uniprotkb_accession gene_name protein_name data_source dbsnp_id cosmic_id description evidence_ECO:0000269 evidence_ECO:0000313 cytogenic_band chromosome_id position ref_allele alt_allele ref_aa alt_aa begin_aa_pos end_aa_pos frequency mutation_type polyphen_score polyphen_prediction sift_score sift_prediction somatic_status disease disease_description disease_xrefs disease_evidence_ECO:0000269 disease_evidence_ECO:0000313 A0A024QYW1 TMEM191C Transmembrane protein 191C TOPMed rs1230584338 22q11.21 22 21466533T> C null W R 14 14 missense 0.0 benign 0 A0A024QYW1 TMEM191C Transmembrane protein 191C TOPMed,gnomAD rs1411763546 22q11.21 22 21466552T> C null V A 20 20 missense 0.302 benign 0 A0A024QYW1 TMEM191C Transmembrane protein 191C TOPMed rs1323547814 22q11.21 22 21466663G> T null S I 57 57 missense 0.0 benign 0 A0A024QYW1 TMEM191C Transmembrane protein 191C gnomAD rs1328541807 22q11.21 22 21466698G> A null G R 69 69 missense 0.98 probably damaging 0 A0A024QYW1 TMEM191C Transmembrane protein 191C Ensembl rs463485 22q11.21 22 21466729T> C null V A 79 79 missense 0.0 benign 0 A0A024QYW1 TMEM191C Transmembrane protein 191C TOPMed rs1460590158 22q11.21 22 21466739C> A null Y * 82 82 stop gained 0 A0A024QYW1 TMEM191C Transmembrane protein 191C gnomAD rs1226849879 22q11.21 22 21466810C> T null S L 106 106 missense 0.514 possibly damaging 0 A0A024QYW1 TMEM191C Transmembrane protein 191C TOPMed,gnomAD rs1052110097 22q11.21 22 21466821G> C null E Q 110 110 missense 0.617 possibly damaging 0 A0A024QYW1 TMEM191C Transmembrane protein 191C TOPMed rs1417260811 22q11.21 22 21466827G> A null A T 112 112 missense 0.005 benign 0 A0A024QYW1 TMEM191C Transmembrane protein 191C TOPMed rs2845470 22q11.21 22 21466837C> T null P L 115 115 missense 0.0 benign 0 A0A024QYW1 TMEM191C Transmembrane protein 191C TOPMed rs1176693528 22q11.21 22 21466854G> T null D Y 121 121 missense 0.937 probably damaging 0 A0A024QYW1 TMEM191C Transmembrane protein 191C TOPMed,gnomAD rs1345540388 22q11.21 22 21466886T> G null F L 131 131 missense 0.302 benign 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs965203080 17q11.2 17 30172593A> G null K E 2 2 missense 0.811 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs562675606 17q11.2 17 30178074A> G null K E 5 5 missense 0.964 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs562675606 17q11.2 17 30178074A> C null K Q 5 5 missense 0.615 possibly damaging 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1471378657 17q11.2 17 30178078T> C null L P 6 6 missense 1.0 probably damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1005041322 17q11.2 17 30178091G> C null K N 10 10 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1375824145 17q11.2 17 30178090A> G null K R 10 10 missense 0.889 possibly damaging 0.05 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1306071001 17q11.2 17 30178098G> A null A T 13 13 missense 0.934 probably damaging 0.05 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,TOPMed,gnomAD rs200960999 17q11.2 17 30178099C> T null A V 13 13 2.0E-4 missense 0.984 probably damaging 0.06 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1199802386 17q11.2 17 30178102A> G null E G 14 14 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs752681070 17q11.2 17 30178106T> G null D E 15 15 missense 0.975 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1005620036 17q11.2 17 30178107G> A null A T 16 16 missense 0.16 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs758277396 17q11.2 17 30178110A> G null T A 17 17 missense 0.985 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs777653699 17q11.2 17 30178117A> G null Y C 19 19 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs777653699 17q11.2 17 30178117A> T null Y F 19 19 missense 0.93 probably damaging 0.27 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs781242765 17q11.2 17 30178122T> C null Y H 21 21 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1437699720 17q11.2 17 30178127C> G null D E 22 22 missense 1.0 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1182622312 17q11.2 17 30178128A> G null S G 23 23 missense 0.872 possibly damaging 0.14 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,NCI-TCGA,gnomAD rs746016935 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30178129G> A null S N 23 23 missense 0.56 possibly damaging 0.1 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1555583362 17q11.2 17 30178139T> A null D E 26 26 missense 1.0 probably damaging 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1279266473 17q11.2 17 30178137G> A null D N 26 26 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1555583365 17q11.2 17 30178140G> A null E K 27 27 missense 0.851 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1173220258 17q11.2 17 30178145G> A null M I 28 28 missense 0.268 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1477194298 17q11.2 17 30178144T> A null M K 28 28 missense 0.972 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1395497464 17q11.2 17 30178146C> A null Q K 29 29 missense 0.801 possibly damaging 0.14 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143842750 17q11.2 17 30178149A> G null K E 30 30 7.99E-4 missense 0.577 possibly damaging 0.09 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,TOPMed,gnomAD rs529982933 17q11.2 17 30178150A> G null K R 30 30 2.0E-4 missense 0.096 benign 0.17 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1395705345 17q11.2 17 30178155A> T null K * 32 32 stop gained 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11544945 17q11.2 17 30178156A> G null K R 32 32 0.02117 missense 0.143 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11544945 17q11.2 17 30178156A> C null K T 32 32 0.02117 missense 0.938 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs769026576 17q11.2 17 30178159A> G null E G 33 33 missense 0.914 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1328835169 17q11.2 17 30178161G> A null E K 34 34 missense 1.0 probably damaging 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,gnomAD rs566349900 17q11.2 17 30178165A> G null N S 35 35 2.0E-4 missense 0.005 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs762050562 17q11.2 17 30178171C> G null P R 37 37 missense 0.553 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs138098896 17q11.2 17 30178174A> C null K T 38 38 missense 0.688 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1160688451 cosmic curated [Cosmic]: autonomic_ganglia pubmed:22367537,cosmic_study:390 17q11.2 17 30178178G> T null L F 39 39 missense 0.973 probably damaging 0.02 deleterious 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs968072730 17q11.2 17 30178176T> A null L M 39 39 missense 0.779 possibly damaging 0.12 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1236974549 17q11.2 17 30178186G> A null G E 42 42 missense 0.608 possibly damaging 0.06 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs776136959 17q11.2 17 30178188A> G null K E 43 43 missense 0.124 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1339384456 17q11.2 17 30178193C> G null D E 44 44 missense 0.722 possibly damaging 0.19 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs759187390 17q11.2 17 30178198A> G null K R 46 46 missense 0.974 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1386404119 17q11.2 17 30179091C> T null P L 47 47 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28564040 17q11.2 17 30179094A> G null K R 48 48 0.003594 missense 0.454 possibly damaging 0.23 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs772260035 17q11.2 17 30179097A> G null Y C 49 49 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs772260035 17q11.2 17 30179097A> T null Y F 49 49 missense 0.995 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs776354605 17q11.2 17 30179099A> C null I L 50 50 missense 0.998 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1173663694 17q11.2 17 30179103A> G null H R 51 51 missense 0.783 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1366669653 17q11.2 17 30179116A> C null K N 55 55 missense 0.995 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1474801002 17q11.2 17 30179121T> C null V A 57 57 missense 0.221 benign 0.94 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1165099443 17q11.2 17 30179136A> G null K R 62 62 missense 0.908 possibly damaging 0.19 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs745464588 17q11.2 17 30179141C> G null Q E 64 64 missense 0.752 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs745464588 17q11.2 17 30179141C> A null Q K 64 64 missense 0.969 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1287890158 17q11.2 17 30179151G> T null R I 67 67 missense 0.998 probably damaging 0.06 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs769451191 17q11.2 17 30179153A> G null M V 68 68 missense 0.958 probably damaging 0.09 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1383144866 17q11.2 17 30179161G> C null K N 70 70 missense 0.99 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1567807214 17q11.2 17 30179166T> C null I T 72 72 missense 0.998 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs374096765 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q11.2 17 30179177C> T null R * 76 76 stop gained 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs762523200 17q11.2 17 30179178G> A null R Q 76 76 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1567807225 17q11.2 17 30179181A> C null E A 77 77 missense 0.998 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs368966248 17q11.2 17 30179184T> A null M K 78 78 missense 0.285 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1294047402 17q11.2 17 30179183A> G null M V 78 78 missense 0.621 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1213968038 17q11.2 17 30179186G> A null E K 79 79 missense 0.529 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1260393699 17q11.2 17 30179189A> G null K E 80 80 missense 0.627 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,gnomAD rs372734687 17q11.2 17 30179191G> T null K N 80 80 2.0E-4 missense 0.056 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs767158654 17q11.2 17 30179193G> A null G E 81 81 missense 0.462 possibly damaging 0.33 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1206676661 17q11.2 17 30179192G> C null G R 81 81 missense 0.987 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1485336216 17q11.2 17 30179198T> A null F I 83 83 missense 0.997 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs750680433 cosmic curated [Cosmic]: large_intestine cosmic_study:376 17q11.2 17 30179202A> C null D A 84 84 missense 0.268 benign 0.64 tolerated 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs756284687 17q11.2 17 30179208A> G null K R 86 86 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs753964711 17q11.2 17 30179216T> C null F L 89 89 missense 0.985 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1403757698 17q11.2 17 30179219G> A null V M 90 90 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1567807283 17q11.2 17 30179225T> A null S T 92 92 missense 0.995 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs779542980 17q11.2 17 30179231T> C null Y H 94 94 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149526911 17q11.2 17 30179235A> C null K T 95 95 9.98E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs777955554 17q11.2 17 30179241A> T null K I 97 97 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1357870337 17q11.2 17 30179240A> C null K Q 97 97 missense 0.999 probably damaging 0.1 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1468980485 17q11.2 17 30179253G> T null R I 101 101 missense 0.963 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1412328781 17q11.2 17 30179254A> T null R S 101 101 missense 0.958 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs745547815 17q11.2 17 30179256C> T null A V 102 102 missense 0.993 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs769611082 17q11.2 17 30179258G> C null E Q 103 103 missense 0.998 probably damaging 0.05 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs775261703 17q11.2 17 30179274A> C null E A 108 108 missense 0.985 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs748866625 17q11.2 17 30179281G> T null R S 110 110 missense 0.876 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1027203393 17q11.2 17 30179282G> A null A T 111 111 missense 0.848 possibly damaging 0.25 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs774358124 17q11.2 17 30179289C> G null A G 113 113 missense 0.993 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs767376843 17q11.2 17 30179297G> A null A T 116 116 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1251439258 17q11.2 17 30180911G> C null C S 117 117 missense 0.0 benign 0.51 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1282355559 17q11.2 17 30180916G> A null D N 119 119 missense 1.0 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1375507380 17q11.2 17 30180919G> A null V I 120 120 missense 0.999 probably damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs765176858 17q11.2 17 30180922A> G null T A 121 121 missense 0.992 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1296350266 17q11.2 17 30180926A> T null K M 122 122 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs753273058 17q11.2 17 30180928C> T null Q * 123 123 stop gained 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs752020771 17q11.2 17 30180936T> G null D E 125 125 missense 1.0 probably damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs758791206 17q11.2 17 30180934G> A null D N 125 125 missense 1.0 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,NCI-TCGA,gnomAD rs758791206 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q11.2 17 30180934G> T null D Y 125 125 missense 1.0 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1194660227 17q11.2 17 30180940A> G null S G 127 127 missense 0.995 probably damaging 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1406902705 17q11.2 17 30180941G> A null S N 127 127 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs757684820 17q11.2 17 30180953G> A null R K 131 131 missense 0.996 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,gnomAD rs202058173 17q11.2 17 30180956A> G null H R 132 132 3.99E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs748888956 17q11.2 17 30180964A> G null N D 135 135 missense 0.954 probably damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1463607717 17q11.2 17 30180974T> C null V A 138 138 missense 0.96 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1370531864 17q11.2 17 30180982G> A null E K 141 141 missense 0.987 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs778242274 17q11.2 17 30180989T> C null V A 143 143 missense 0.005 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1441914944 17q11.2 17 30180988G> A null V I 143 143 missense 0.003 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs747663072 17q11.2 17 30180992C> T null P L 144 144 missense 1.0 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs747663072 17q11.2 17 30180992C> G null P R 144 144 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1213958963 17q11.2 17 30180999C> G null C W 146 146 missense 0.887 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1384124079 17q11.2 17 30181002C> G null S R 147 147 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs773119002 17q11.2 17 30181005T> A null F L 148 148 missense 0.005 benign 0.25 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144072900 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30181006C> T null R C 149 149 missense 0.987 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201919501 17q11.2 17 30181007G> A null R H 149 149 2.0E-4 missense 0.42 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs776853452 17q11.2 17 30181015A> G null R G 152 152 missense 0.024 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs759629179 17q11.2 17 30181016G> A null R K 152 152 missense 0.024 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1165027669 17q11.2 17 30184620G> C null G A 154 154 missense 0.001 benign 0.27 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1406078246 17q11.2 17 30184626A> C null K T 156 156 missense 0.941 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1407741265 17q11.2 17 30184632A> G null E G 158 158 missense 0.681 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs370966796 17q11.2 17 30184644G> C null G A 162 162 missense 0.339 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs370966796 17q11.2 17 30184644G> T null G V 162 162 missense 0.946 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs201551307 17q11.2 17 30184652A> G null N D 165 165 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,NCI-TCGA,gnomAD rs201551307 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q11.2 17 30184652A> C null N H 165 165 missense 0.084 benign 0.0 deleterious 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs769963022 17q11.2 17 30184653A> G null N S 165 165 missense 0.006 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs755157083 17q11.2 17 30184656A> C null E A 166 166 missense 0.994 probably damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs375558524 17q11.2 17 30184661A> G null S G 168 168 missense 0.0 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs375558524 17q11.2 17 30184661A> C null S R 168 168 missense 0.069 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs764209337 17q11.2 17 30184668A> G null K R 170 170 missense 0.0 benign 0.65 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1346061397 17q11.2 17 30184670A> C null N H 171 171 missense 0.007 benign 0.12 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs762366162 17q11.2 17 30184672C> G null N K 171 171 missense 0.058 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1209131799 17q11.2 17 30184674G> C null R T 172 172 missense 0.702 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs768102631 17q11.2 17 30184677T> C null I T 173 173 missense 0.003 benign 0.28 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1375926302 17q11.2 17 30184680C> T null P L 174 174 missense 0.005 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1486252377 17q11.2 17 30184679C> T null P S 174 174 missense 0.009 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1486252377 17q11.2 17 30184679C> A null P T 174 174 missense 0.086 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs913173935 17q11.2 17 30184686A> G null E G 176 176 missense 0.118 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1189713038 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30184697C> A null L I 180 180 missense 0.023 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370384526 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 17q11.2 17 30184706G> A null D N 183 183 missense 0.014 benign 0.5 tolerated 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1469872676 17q11.2 17 30184709G> A null V M 184 184 missense 0.022 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1045563883 17q11.2 17 30184713A> G null K R 185 185 missense 0.154 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1356622616 17q11.2 17 30184721G> A null E K 188 188 missense 0.003 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs752326325 17q11.2 17 30184728C> T null P L 190 190 missense 0.904 possibly damaging 0.09 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs764863885 17q11.2 17 30184727C> T null P S 190 190 missense 0.862 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs777217408 17q11.2 17 30184734C> G null A G 192 192 missense 0.669 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs746980453 17q11.2 17 30184736G> C null D H 193 193 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,gnomAD rs536310311 17q11.2 17 30184741T> A null S R 194 194 2.0E-4 missense 0.012 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1442542729 17q11.2 17 30184746T> A null F Y 196 196 missense 0.198 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs781089931 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 17q11.2 17 30184748G> A null D N 197 197 missense 0.048 benign 0.01 deleterious 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs745710731 17q11.2 17 30184756G> C null K N 199 199 missense 0.0 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs745710731 17q11.2 17 30184756G> T null K N 199 199 missense 0.0 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1279976533 17q11.2 17 30184758G> A null S N 200 200 missense 0.041 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1382657594 17q11.2 17 30184761G> A null S N 201 201 missense 0.842 possibly damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs775581263 17q11.2 17 30184760A> C null S R 201 201 missense 0.889 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1401108241 17q11.2 17 30184763G> A null A T 202 202 missense 0.003 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs148657875 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375,cosmic_study:419 17q11.2 17 30184764C> T null A V 202 202 2.0E-4 missense 0.012 benign 0.01 deleterious 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs774610044 17q11.2 17 30184767A> G null D G 203 203 missense 0.43 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1437347100 17q11.2 17 30184766G> A null D N 203 203 missense 0.039 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs761957472 17q11.2 17 30184776T> C null I T 206 206 missense 0.003 benign 0.42 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1567809239 17q11.2 17 30184782A> T null E V 208 208 missense 0.188 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1467564210 17q11.2 17 30184803G> A null R K 215 215 missense 0.009 benign 0.42 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1467564210 17q11.2 17 30184803G> C null R T 215 215 missense 0.196 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1467766691 17q11.2 17 30184808A> G null K E 217 217 missense 0.003 benign 0.31 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs146216710 17q11.2 17 30184811G> A null V I 218 218 missense 0.0 benign 0.29 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs146216710 17q11.2 17 30184811G> C null V L 218 218 missense 0.01 benign 0.44 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1447549887 17q11.2 17 30184830A> T null N I 224 224 missense 0.0 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,TOPMed,gnomAD rs374953834 17q11.2 17 30184831T> A null N K 224 224 missense 0.0 benign 0.54 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs367942780 17q11.2 17 30184835T> A null F I 226 226 missense 0.001 benign 0.34 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs367942780 17q11.2 17 30184835T> C null F L 226 226 missense 0.0 benign 0.66 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs367942780 17q11.2 17 30184835T> G null F V 226 226 missense 0.0 benign 0.52 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1332730150 17q11.2 17 30184839A> G null K R 227 227 missense 0.003 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1332020185 17q11.2 17 30184846C> G null H Q 229 229 missense 0.005 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs763705384 17q11.2 17 30184845A> G null H R 229 229 missense 0.003 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs751122250 17q11.2 17 30184860A> G null H R 234 234 missense 0.0 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116966685 17q11.2 17 30184866G> A null R Q 236 236 0.01198 missense 0.001 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146547631 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30184865C> T null R W 236 236 2.0E-4 missense 0.001 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs755882248 17q11.2 17 30184874A> G null S G 239 239 missense 0.053 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs755882248 17q11.2 17 30184874A> C null S R 239 239 missense 0.963 probably damaging 0.05 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1213273778 17q11.2 17 30184883A> G null R G 242 242 missense 0.001 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs769044389 17q11.2 17 30184892A> G null S G 245 245 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs767964691 17q11.2 17 30184893G> A null S N 245 245 missense 0.014 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs748304304 17q11.2 17 30184908C> T null T M 250 250 missense 0.549 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs773603188 17q11.2 17 30184914G> T null G V 252 252 missense 0.051 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs766687348 17q11.2 17 30184919C> T null R * 254 254 stop gained 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,NCI-TCGA,gnomAD rs372875096 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 17q11.2 17 30184920G> A null R Q 254 254 missense 0.001 benign 0.2 tolerated 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,NCI-TCGA,TOPMed rs777094250 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30184923C> T null T M 255 255 missense 0.132 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs763799172 17q11.2 17 30184926C> T null S L 256 256 missense 0.0 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP rs368477825 17q11.2 17 30184929G> A null R K 257 257 missense 0.001 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1567809338 17q11.2 17 30184935A> G null H R 259 259 missense 0.007 benign 0.17 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1346565424 17q11.2 17 30184934C> T null H Y 259 259 missense 0.469 possibly damaging 0.16 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs761320116 17q11.2 17 30184944G> A null R K 262 262 missense 0.0 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1280226476 17q11.2 17 30184946G> A null E K 263 263 missense 0.057 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1332722944 17q11.2 17 30184949G> T null D Y 264 264 missense 0.011 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs750357312 17q11.2 17 30184953A> C null Q P 265 265 missense 0.0 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1266289108 17q11.2 17 30184955C> T null H Y 266 266 missense 0.255 benign 0.2 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs779830066 17q11.2 17 30184961C> T null Q * 268 268 stop gained 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs753740317 17q11.2 17 30184962A> G null Q R 268 268 missense 0.01 benign 0.34 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1195728591 17q11.2 17 30184965A> G null K R 269 269 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,gnomAD rs561206034 17q11.2 17 30184978C> G null D E 273 273 2.0E-4 missense 0.003 benign 0.36 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1415077496 17q11.2 17 30184976G> A null D N 273 273 missense 0.005 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs148978796 17q11.2 17 30184979C> G null Q E 274 274 missense 0.0 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs777871847 17q11.2 17 30184980A> G null Q R 274 274 missense 0.0 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1451171875 17q11.2 17 30184982G> A null E K 275 275 missense 0.005 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1413226005 17q11.2 17 30184988C> G null H D 277 277 missense 0.0 benign 0.22 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1157248115 17q11.2 17 30184989A> T null H L 277 277 missense 0.01 benign 0.38 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,TOPMed,gnomAD rs147077641 17q11.2 17 30184995C> T null T I 279 279 missense 0.0 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs747030474 17q11.2 17 30184994A> T null T S 279 279 missense 0.001 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs376766098 17q11.2 17 30185000C> T null R C 281 281 missense 0.549 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs376766098 17q11.2 17 30185000C> G null R G 281 281 missense 0.103 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,NCI-TCGA,TOPMed,gnomAD rs770079774 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q11.2 17 30185001G> A null R H 281 281 missense 0.005 benign 0.36 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1275636693 17q11.2 17 30185007A> G null Y C 283 283 missense 0.003 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs201232538 17q11.2 17 30185010G> A null R Q 284 284 missense 0.001 benign 0.37 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs193177731 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185009C> T null R W 284 284 2.0E-4 missense 0.003 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1567809456 17q11.2 17 30185012A> G null K E 285 285 missense 0.003 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1311441116 17q11.2 17 30185016A> G null E G 286 286 missense 0.018 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs760087006 17q11.2 17 30185015G> A null E K 286 286 missense 0.444 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs766405951 17q11.2 17 30185018A> G null R G 287 287 missense 0.0 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1182004983 17q11.2 17 30185019G> A null R K 287 287 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117171982 cosmic curated [Cosmic]: pancreas pubmed:21750719,cosmic_study:429 17q11.2 17 30185021G> A null D N 288 288 0.002596 missense 0.251 benign 0.03 deleterious 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1286689057 17q11.2 17 30185022A> T null D V 288 288 missense 0.618 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs778801204 17q11.2 17 30185027C> G null H D 290 290 missense 0.188 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs937176449 17q11.2 17 30185029T> A null H Q 290 290 missense 0.024 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs753000082 17q11.2 17 30185028A> G null H R 290 290 missense 0.276 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs778801204 17q11.2 17 30185027C> T null H Y 290 290 missense 0.001 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,gnomAD rs146387574 17q11.2 17 30185034A> G null H R 292 292 missense 0.025 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs777836514 17q11.2 17 30185039G> A null E K 294 294 missense 0.003 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1434639383 17q11.2 17 30185042G> T null A S 295 295 missense 0.003 benign 0.59 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1434639383 17q11.2 17 30185042G> A null A T 295 295 missense 0.001 benign 0.57 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1459845098 17q11.2 17 30185043C> T null A V 295 295 missense 0.023 benign 0.51 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1389932103 17q11.2 17 30185049A> G null H R 297 297 missense 0.026 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1303561276 17q11.2 17 30185045_30185051du p null R K 298 298 stop gained 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1377848780 17q11.2 17 30185057T> C null S P 300 300 missense 0.559 possibly damaging 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs12950401 17q11.2 17 30185061A> T null H L 301 301 missense 0.084 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs12950401 17q11.2 17 30185061A> G null H R 301 301 missense 0.174 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,gnomAD rs550614524 17q11.2 17 30185073A> G null H R 305 305 2.0E-4 missense 0.012 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs12950413 17q11.2 17 30185077A> C null E D 306 306 missense 0.092 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,TOPMed,gnomAD rs12947131 17q11.2 17 30185075G> A null E K 306 306 5.99E-4 missense 0.541 possibly damaging 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,TOPMed,gnomAD rs187315102 17q11.2 17 30185091C> T null P L 311 311 7.99E-4 missense 0.0 benign 0.27 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,TOPMed,gnomAD rs187315102 17q11.2 17 30185091C> A null P Q 311 311 7.99E-4 missense 0.001 benign 0.48 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1238423620 17q11.2 17 30185096G> A null A T 313 313 missense 0.0 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,NCI-TCGA,gnomAD rs760235374 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185097C> T null A V 313 313 missense 0.01 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1433168648 17q11.2 17 30185105C> T null Q * 316 316 stop gained 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1282440002 17q11.2 17 30185112A> G null E G 318 318 missense 0.003 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs759505460 17q11.2 17 30185114A> G null R G 319 319 missense 0.003 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs765237204 17q11.2 17 30185117A> G null S G 320 320 missense 0.006 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1460538053 17q11.2 17 30185120G> A null D N 321 321 missense 0.118 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1252343741 17q11.2 17 30185124G> T null R I 322 322 missense 0.927 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC rs758114727 17q11.2 17 30185126G> A null V I 323 323 missense 0.0 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1301040890 17q11.2 17 30185138G> A null E K 327 327 missense 0.007 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1219546668 17q11.2 17 30185144G> A null D N 329 329 missense 0.462 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs764444794 17q11.2 17 30185150G> A null E K 331 331 missense 0.054 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed rs751669510 17q11.2 17 30185154A> G null K R 332 332 missense 0.0 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1258139812 17q11.2 17 30185163A> G null Q R 335 335 missense 0.009 benign 0.2 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1211417395 17q11.2 17 30185172A> G null Q R 338 338 missense 0.003 benign 0.84 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs745914377 17q11.2 17 30185179A> T null R S 340 340 missense 0.076 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs781203044 17q11.2 17 30185178G> C null R T 340 340 missense 0.162 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs780521815 17q11.2 17 30185181A> C null D A 341 341 missense 0.005 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs780521815 17q11.2 17 30185181A> G null D G 341 341 missense 0.001 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,gnomAD rs375254014 17q11.2 17 30185180G> C null D H 341 341 missense 0.007 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1427250030 17q11.2 17 30185183A> G null R G 342 342 missense 0.738 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1424390556 17q11.2 17 30185187A> C null Q P 343 343 missense 0.001 benign 0.24 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs749725761 17q11.2 17 30185191A> C null Q H 344 344 missense 0.0 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs746189146 17q11.2 17 30185192A> G null N D 345 345 missense 0.0 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1436651657 17q11.2 17 30185195G> T null D Y 346 346 missense 0.001 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,NCI-TCGA,TOPMed,gnomAD rs772930615 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q11.2 17 30185204C> T null R * 349 349 stop gained 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1436945801 17q11.2 17 30185205G> A null R Q 349 349 missense 0.009 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs746591228 17q11.2 17 30185208C> T null P L 350 350 missense 0.0 benign 0.31 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,TOPMed,gnomAD rs368129693 17q11.2 17 30185216A> G null K E 353 353 missense 0.039 benign 0.13 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1319349706 17q11.2 17 30185231G> A null E K 358 358 missense 0.003 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1272180795 17q11.2 17 30185238G> A null S N 360 360 missense 0.0 benign 0.17 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs891259879 17q11.2 17 30185243G> A null A T 362 362 missense 0.003 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1567809635 17q11.2 17 30185246A> G null K E 363 363 missense 0.003 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1192216198 17q11.2 17 30185259T> C null M T 367 367 missense 0.0 benign 0.39 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs759097578 17q11.2 17 30185258A> G null M V 367 367 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs765323379 17q11.2 17 30185265T> G null V G 369 369 missense 0.0 benign 0.42 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1429089479 17q11.2 17 30185264G> C null V L 369 369 missense 0.001 benign 0.25 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1193536277 17q11.2 17 30185268G> A null R K 370 370 missense 0.003 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1478264019 17q11.2 17 30185273G> A null E K 372 372 missense 0.162 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1478855544 17q11.2 17 30185280A> G null Y C 374 374 missense 0.0 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1406169378 17q11.2 17 30185287T> A null N K 376 376 missense 0.001 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1417644208 17q11.2 17 30185294A> G null K E 379 379 missense 0.066 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs751832321 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 17q11.2 17 30185300A> G null R G 381 381 missense 0.007 benign 0.05 deleterious 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs372452182 17q11.2 17 30185301G> A null R K 381 381 missense 0.012 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,TOPMed,gnomAD rs138101458 17q11.2 17 30185305T> G null D E 382 382 9.98E-4 missense 0.003 benign 0.38 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,gnomAD rs374804942 17q11.2 17 30185311A> C null E D 384 384 missense 0.146 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1351514186 17q11.2 17 30185313A> G null K R 385 385 missense 0.007 benign 0.3 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115609438 17q11.2 17 30185315C> G null R G 386 386 0.004792 missense 0.0 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,TOPMed,gnomAD rs143123894 17q11.2 17 30185316G> A null R Q 386 386 0.003195 missense 0.0 benign 0.58 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1393117666 cosmic curated [Cosmic]: large_intestine cosmic_study:376 17q11.2 17 30185320G> T null E D 387 387 missense 0.001 benign 0.11 tolerated 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1292512448 17q11.2 17 30185321G> C null V L 388 388 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs755392730 17q11.2 17 30185325G> C null G A 389 389 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs755392730 17q11.2 17 30185325G> A null G D 389 389 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs749699044 17q11.2 17 30185324G> C null G R 389 389 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs748513327 17q11.2 17 30185333T> A null S T 392 392 missense 0.11 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,TOPMed,gnomAD rs200205592 17q11.2 17 30185341A> C null E D 394 394 3.99E-4 missense 0.341 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,gnomAD rs148231103 17q11.2 17 30185339G> A null E K 394 394 2.0E-4 missense 0.419 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs745438267 17q11.2 17 30185343G> T null R I 395 395 missense 0.606 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs745438267 17q11.2 17 30185343G> A null R K 395 395 missense 0.007 benign 0.19 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1183786116 17q11.2 17 30185345A> G null N D 396 396 missense 0.0 benign 0.33 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1418892821 17q11.2 17 30185357A> C null K Q 400 400 missense 0.153 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs775515026 17q11.2 17 30185361A> G null E G 401 401 missense 0.026 benign 0.11 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,gnomAD rs369195228 17q11.2 17 30185370C> A null P Q 404 404 missense 0.546 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs774060605 17q11.2 17 30185372A> C null N H 405 405 missense 0.078 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1340512368 17q11.2 17 30185379G> C null R T 407 407 missense 0.299 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1449530389 17q11.2 17 30185381G> T null A S 408 408 missense 0.057 benign 0.21 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs761579774 17q11.2 17 30185384A> G null K E 409 409 missense 0.018 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1377505069 17q11.2 17 30185385A> G null K R 409 409 missense 0.021 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1239881855 17q11.2 17 30185388A> G null D G 410 410 missense 0.115 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117582579 17q11.2 17 30185387G> C null D H 410 410 0.005791 missense 0.541 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117582579 17q11.2 17 30185387G> A null D N 410 410 0.005791 missense 0.006 benign 0.06 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1310446437 17q11.2 17 30185391A> G null K R 411 411 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1356541985 17q11.2 17 30185393T> C null F L 412 412 missense 0.0 benign 0.71 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1417919382 17q11.2 17 30185397T> A null L H 413 413 missense 0.005 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1209327451 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q11.2 17 30185396C> A null L I 413 413 missense 0.024 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1209327451 17q11.2 17 30185396C> G null L V 413 413 missense 0.0 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1251707388 17q11.2 17 30185403A> G null Q R 415 415 missense 0.0 benign 0.34 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs766396463 17q11.2 17 30185409G> A null R K 417 417 missense 0.0 benign 0.48 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs753063662 17q11.2 17 30185429A> G null M V 424 424 missense 0.0 benign 0.46 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1291456458 17q11.2 17 30185432G> C null A P 425 425 missense 0.0 benign 0.05 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1452543134 17q11.2 17 30185437G> C null K N 426 426 missense 0.386 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs141753156 17q11.2 17 30185447A> G null R G 430 430 missense 0.001 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1415694563 17q11.2 17 30185448G> C null R T 430 430 missense 0.039 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs780996736 17q11.2 17 30185451A> G null N S 431 431 missense 0.006 benign 0.04 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1415508168 17q11.2 17 30185454A> G null Q R 432 432 missense 0.001 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,NCI-TCGA,TOPMed rs745462894 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185463C> T null P L 435 435 missense 0.0 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1253838206 17q11.2 17 30185466C> T null S F 436 436 missense 0.498 possibly damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs866042181 17q11.2 17 30185472C> T null S F 438 438 missense 0.365 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1379537386 17q11.2 17 30185476A> T null E D 439 439 missense 0.009 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,TOPMed,gnomAD rs373476348 17q11.2 17 30185475A> G null E G 439 439 missense 0.006 benign 0.12 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,TOPMed,gnomAD rs373476348 17q11.2 17 30185475A> T null E V 439 439 missense 0.112 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1231475063 17q11.2 17 30185478C> T null S L 440 440 missense 0.0 benign 0.18 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1291054838 17q11.2 17 30185481C> T null S L 441 441 missense 0.003 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs779393708 17q11.2 17 30185483C> A null L M 442 442 missense 0.459 possibly damaging 0.13 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs779393708 17q11.2 17 30185483C> G null L V 442 442 missense 0.039 benign 0.28 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs748803640 17q11.2 17 30185487G> A null G E 443 443 missense 0.03 benign 0.25 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs748803640 17q11.2 17 30185487G> T null G V 443 443 missense 0.357 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,TOPMed,gnomAD rs200921290 17q11.2 17 30185499G> A null R K 447 447 2.0E-4 missense 0.009 benign 0.31 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,TOPMed,gnomAD rs200921290 17q11.2 17 30185499G> C null R T 447 447 2.0E-4 missense 0.084 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs760846065 17q11.2 17 30185502T> A null L H 448 448 missense 0.003 benign 0.15 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,gnomAD rs372340051 17q11.2 17 30185508A> G null E G 450 450 missense 0.042 benign 0.14 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs753912294 17q11.2 17 30185510G> A null E K 451 451 missense 0.003 benign 0.07 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1378138303 17q11.2 17 30185514G> A null G E 452 452 missense 0.0 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs146235514 17q11.2 17 30185513G> A null G R 452 452 missense 0.0 benign 0.71 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs146235514 17q11.2 17 30185513G> C null G R 452 452 missense 0.0 benign 0.71 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs758847520 17q11.2 17 30185523A> T null K M 455 455 missense 0.001 benign 0.23 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs778237398 17q11.2 17 30185529A> G null K R 457 457 missense 0.003 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1332989910 17q11.2 17 30185534C> A null Q K 459 459 missense 0.01 benign 0.1 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1463345116 17q11.2 17 30185538A> G null E G 460 460 missense 0.026 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1391773763 17q11.2 17 30185537G> C null E Q 460 460 missense 0.617 possibly damaging 0.38 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs755875308 17q11.2 17 30185544C> T null P L 462 462 missense 0.001 benign 0.08 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs371790916 17q11.2 17 30185547C> T null P L 463 463 missense 0.003 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1332248439 17q11.2 17 30185555G> A null V M 466 466 missense 0.039 benign 0.42 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs1567809892 17q11.2 17 30185563G> T null K N 468 468 missense 0.061 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs779739700 17q11.2 17 30185565T> C null F S 469 469 missense 0.184 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 Ensembl rs866668828 17q11.2 17 30185568C> A null A E 470 470 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs778726681 17q11.2 17 30185574G> A null R Q 472 472 missense 0.084 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs377148450 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 17q11.2 17 30185573C> T null R W 472 472 missense 0.045 benign 0.0 deleterious 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ESP,ExAC,TOPMed,gnomAD rs369889777 17q11.2 17 30185580A> G null N S 474 474 missense 0.007 benign 0.28 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs746784442 17q11.2 17 30185586A> G null E G 476 476 missense 0.255 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1477875611 17q11.2 17 30185595T> C null M T 479 479 missense 0.0 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs771118226 17q11.2 17 30185594A> G null M V 479 479 missense 0.003 benign 0.05 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs776908088 17q11.2 17 30185618G> T null A S 487 487 missense 0.859 possibly damaging 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs759541223 17q11.2 17 30185629G> A null M I 490 490 missense 0.145 benign 0.01 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1475231575 17q11.2 17 30185627A> G null M V 490 490 missense 0.292 benign 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs572953048 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30185631C> T null A V 491 491 2.0E-4 missense 0.978 probably damaging 0.03 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs559964855 cosmic curated [Cosmic]: prostate cosmic_study:435 17q11.2 17 30185634G> T null R L 492 492 missense 0.94 probably damaging 0.0 deleterious 1 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs559964855 17q11.2 17 30185634G> A null R Q 492 492 missense 0.44 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,TOPMed,gnomAD rs543227737 17q11.2 17 30185633C> T null R W 492 492 missense 0.197 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1340390424 17q11.2 17 30185637T> G null V G 493 493 missense 0.086 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 gnomAD rs1400695653 17q11.2 17 30185639A> G null N D 494 494 missense 0.169 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1338983709 17q11.2 17 30185645A> G null K E 496 496 missense 0.039 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed,gnomAD rs1265855184 17q11.2 17 30185652A> G null Y C 498 498 missense 0.026 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs765948540 17q11.2 17 30185654A> G null I V 499 499 missense 0.033 benign 0.09 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1447258866 17q11.2 17 30185661A> G null K R 501 501 missense 0.046 benign 0.02 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 ExAC,gnomAD rs753470842 17q11.2 17 30185668T> A null D E 503 503 missense 0.001 benign 1.0 tolerated 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 1000Genomes,gnomAD rs540335133 17q11.2 17 30185667A> G null D G 503 503 2.0E-4 missense 0.003 benign 0.0 deleterious 0 A0A024QZ33 NSRP1 Coiled-coil domain-containing protein 55 TOPMed rs1214090837 17q11.2 17 30185672T> A null * R 505 505 stop lost 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201302366 5p15.33 5 306613C> T null R C 4 4 0.001398 missense 0.955 probably damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs776970258 5p15.33 5 306614G> A null R H 4 4 missense 0.037 benign 0.12 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs776970258 5p15.33 5 306614G> T null R L 4 4 missense 0.258 benign 0.07 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201302366 5p15.33 5 306613C> A null R S 4 4 0.001398 missense 0.159 benign 0.22 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1341660631 5p15.33 5 306619A> G null N D 6 6 missense 0.026 benign 0.08 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs765680201 5p15.33 5 306626C> T null A V 8 8 missense 0.044 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs1244037334 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 5p15.33 5 306628G> A null G S 9 9 missense 0.015 benign 0.15 tolerated 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs766012558 5p15.33 5 306631G> A null V M 10 10 missense 0.2 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs1560860970 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 306641G> C null S T 13 13 missense 0.001 benign 0.1 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs772839574 5p15.33 5 306643G> A null E K 14 14 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs751042838 5p15.33 5 306650C> T null T M 16 16 missense 0.007 benign 0.03 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs145515975 5p15.33 5 306653G> A null G D 17 17 2.0E-4 missense 0.388 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1259286633 5p15.33 5 306655G> C null V L 18 18 missense 0.003 benign 1.0 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1259286633 5p15.33 5 306655G> A null V M 18 18 missense 0.416 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,NCI-TCGA,TOPMed,gnomAD rs372244838 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 306671C> T null T M 23 23 missense 0.288 benign 0.02 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1363410033 5p15.33 5 306675C> G null D E 24 24 missense 0.028 benign 0.09 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs752564923 5p15.33 5 306679C> G null Q E 26 26 missense 0.133 benign 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs777478206 5p15.33 5 306685G> T null V F 28 28 missense 0.795 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs777478206 5p15.33 5 306685G> A null V I 28 28 missense 0.003 benign 0.13 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1044096810 5p15.33 5 306690C> G null F L 29 29 missense 0.999 probably damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1044096810 5p15.33 5 306690C> A null F L 29 29 missense 0.999 probably damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs758565797 5p15.33 5 306691C> T null R C 30 30 missense 0.407 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111451538 5p15.33 5 306692G> A null R H 30 30 3.99E-4 missense 0.361 benign 0.02 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs758565797 5p15.33 5 306691C> A null R S 30 30 missense 0.501 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs761977523 5p15.33 5 306694A> G null T A 31 31 missense 0.003 benign 0.41 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs545985005 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 306695C> T null T M 31 31 missense 0.262 benign 0.07 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs773665840 5p15.33 5 306698A> G null Y C 32 32 missense 0.333 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs770749524 5p15.33 5 306701A> G null D G 33 33 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1004444042 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5p15.33 5 306700G> A null D N 33 33 missense 0.992 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1485901510 5p15.33 5 306704G> A null R Q 34 34 missense 0.116 benign 0.18 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs186610320 5p15.33 5 306703C> T null R W 34 34 2.0E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs759143857 5p15.33 5 306707A> G null D G 35 35 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs377279142 5p15.33 5 306715G> A null G R 38 38 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1381059532 5p15.33 5 306718A> C null M L 39 39 missense 0.0 benign 0.27 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs191142207 5p15.33 5 306723C> G null I M 40 40 5.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1027974918 5p15.33 5 306722T> C null I T 40 40 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs919592414 5p15.33 5 306724G> A null D N 41 41 missense 0.639 possibly damaging 0.04 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1393884956 5p15.33 5 306735G> T null E D 44 44 missense 0.975 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs751714208 5p15.33 5 306733G> A null E K 44 44 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs755147828 5p15.33 5 306743A> C null Q P 47 47 missense 0.713 possibly damaging 0.13 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs755147828 5p15.33 5 306743A> G null Q R 47 47 missense 0.042 benign 0.28 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1437179325 5p15.33 5 306745G> C null A P 48 48 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1437179325 5p15.33 5 306745G> A null A T 48 48 missense 0.993 probably damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs369997630 5p15.33 5 306748C> T null L F 49 49 missense 0.855 possibly damaging 0.14 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs369997630 5p15.33 5 306748C> G null L V 49 49 missense 0.866 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1305603346 5p15.33 5 306754G> T null G C 51 51 missense 0.078 benign 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1312655647 5p15.33 5 306758T> G null F C 52 52 missense 0.982 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs562736743 5p15.33 5 306759C> G null F L 52 52 2.0E-4 missense 0.054 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs373052818 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 5p15.33 5 306760G> A null G S 53 53 missense 0.999 probably damaging 0.0 deleterious 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs776613586 5p15.33 5 311299G> A null R Q 55 55 missense 0.009 benign 0.02 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1416762592 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5p15.33 5 311298C> T null R W 55 55 missense 0.722 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1166624323 5p15.33 5 311301C> A null L I 56 56 missense 0.902 possibly damaging 0.02 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1179587118 5p15.33 5 311302T> C null L P 56 56 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1350026839 5p15.33 5 311305C> G null S C 57 57 missense 0.672 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1451981309 5p15.33 5 311319G> T null D Y 62 62 missense 0.343 benign 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1363927572 5p15.33 5 311331C> T null R * 66 66 stop gained 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs772846590 5p15.33 5 311332G> T null R L 66 66 missense 0.006 benign 0.05 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs772846590 5p15.33 5 311332G> A null R Q 66 66 missense 0.001 benign 0.56 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145654625 5p15.33 5 311337T> C null F L 68 68 2.0E-4 missense 0.88 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1355076299 5p15.33 5 311341A> G null D G 69 69 missense 0.849 possibly damaging 0.04 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs1032938242 5p15.33 5 311343A> T null R W 70 70 missense 0.989 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs183545231 5p15.33 5 311353G> A null R Q 73 73 2.0E-4 missense 0.03 benign 0.27 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs767684079 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 5p15.33 5 311352C> T null R W 73 73 missense 0.85 possibly damaging 0.01 deleterious 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs996549656 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 311364G> A null A T 77 77 missense 0.018 benign 1.0 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs757656555 5p15.33 5 311365C> T null A V 77 77 missense 0.089 benign 0.17 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs779736494 5p15.33 5 311372C> A null D E 79 79 missense 0.878 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs368897410 5p15.33 5 311370G> C null D H 79 79 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368897410 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 311370G> A null D N 79 79 missense 0.996 probably damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed,gnomAD rs1378816110 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 311373G> A null D N 80 80 missense 0.852 possibly damaging 0.23 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs1560865553 5p15.33 5 311379A> T null I F 82 82 missense 0.968 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs746657841 5p15.33 5 311389G> T null C F 85 85 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1029082968 5p15.33 5 311391A> G null I V 86 86 missense 0.0 benign 1.0 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs371288200 5p15.33 5 311394G> A null V I 87 87 missense 0.014 benign 0.03 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1156261478 5p15.33 5 311400C> T null Q * 89 89 stop gained 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1294369854 5p15.33 5 311402G> T null Q H 89 89 missense 0.009 benign 0.16 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs201782998 5p15.33 5 314418G> A null R K 90 90 missense 0.0 benign 0.21 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs774240050 5p15.33 5 314421T> C null L S 91 91 missense 0.88 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs761008685 5p15.33 5 314424C> T null T M 92 92 missense 0.988 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1437589086 5p15.33 5 314431A> G null I M 94 94 missense 0.148 benign 0.02 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs909500893 5p15.33 5 314429A> G null I V 94 94 missense 0.0 benign 0.16 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs201011657 5p15.33 5 314438C> T null R C 97 97 missense 0.768 possibly damaging 0.03 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139334790 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 5p15.33 5 314439G> A null R H 97 97 3.99E-4 missense 0.017 benign 0.06 tolerated 1 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139334790 5p15.33 5 314439G> T null R L 97 97 3.99E-4 missense 0.031 benign 0.04 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs201011657 5p15.33 5 314438C> A null R S 97 97 missense 0.048 benign 0.12 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1452552006 5p15.33 5 314441T> C null Y H 98 98 missense 0.005 benign 0.53 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,NCI-TCGA rs149412009 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 314444G> A null D N 99 99 2.0E-4 missense 0.866 possibly damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,TOPMed,gnomAD rs763389359 5p15.33 5 314448C> T null T M 100 100 missense 0.184 benign 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs751964638 5p15.33 5 314450G> C null D H 101 101 missense 0.04 benign 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs751964638 5p15.33 5 314450G> A null D N 101 101 missense 0.003 benign 0.16 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed rs144783509 5p15.33 5 314458C> A null D E 103 103 2.0E-4 missense 0.017 benign 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1233702405 5p15.33 5 314460G> C null G A 104 104 missense 0.956 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,gnomAD rs369618664 5p15.33 5 314462T> C null W R 105 105 missense 0.0 benign 0.19 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c gnomAD rs1407999951 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5p15.33 5 314475C> T null S L 109 109 missense 0.5 possibly damaging 0.04 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370878298 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5p15.33 5 314480G> A null E K 111 111 missense 0.921 probably damaging 0.0 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c Ensembl rs1560868344 5p15.33 5 314496T> C null M T 116 116 missense 0.313 benign 0.2 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138896105 5p15.33 5 314495A> G null M V 116 116 3.99E-4 missense 0.025 benign 0.05 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs770951720 5p15.33 5 314498G> A null V I 117 117 missense 0.014 benign 0.07 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c TOPMed rs1308659459 5p15.33 5 314501T> G null F V 118 118 missense 0.804 possibly damaging 0.01 deleterious 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs778962868 5p15.33 5 314504A> G null S G 119 119 missense 0.005 benign 0.07 tolerated 0 A0A024QZ42 PDCD6 HCG1985580, isoform CRA_c ExAC,gnomAD rs745705216 5p15.33 5 314510G> A null V I 121 121 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed,gnomAD rs1002689539 10q21.2 10 60780179C> A null T N 5 5 missense 0.007 benign 0.14 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs1035478197 10q21.2 10 60780184A> T null I L 7 7 missense 0.017 benign 0.73 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1468681761 10q21.2 10 60780185T> C null I T 7 7 missense 0.571 possibly damaging 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1179034229 10q21.2 10 60780195T> G null I M 10 10 missense 0.807 possibly damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs745479111 10q21.2 10 60780194T> C null I T 10 10 missense 0.765 possibly damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1201393937 10q21.2 10 60784708C> G null T S 14 14 missense 0.157 benign 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed,gnomAD rs1403343549 10q21.2 10 60784712T> A null Y * 15 15 stop gained 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1335188877 10q21.2 10 60784729G> C null G A 21 21 missense 0.101 benign 1.0 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC rs111992007 10q21.2 10 60784735A> G null H R 23 23 missense 0.274 benign 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs745660582 10q21.2 10 60784740A> C null T P 25 25 missense 0.056 benign 0.27 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,TOPMed rs377117179 10q21.2 10 60784750A> G null Q R 28 28 missense 0.003 benign 0.83 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs754755265 10q21.2 10 60784752G> T null V L 29 29 missense 0.0 benign 0.53 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs771969255 10q21.2 10 60784755G> T null V L 30 30 missense 0.592 possibly damaging 0.03 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1370963471 10q21.2 10 60784783G> A null S N 39 39 missense 0.003 benign 0.4 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs746720738 10q21.2 10 60784785G> A null E K 40 40 missense 0.692 possibly damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1297673130 10q21.2 10 60784797G> A null V I 44 44 missense 0.094 benign 0.29 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs768015814 10q21.2 10 60784806A> T null T S 47 47 missense 0.998 probably damaging 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1454245611 10q21.2 10 60784809G> A null A T 48 48 missense 0.983 probably damaging 0.07 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,ExAC,gnomAD rs142650572 10q21.2 10 60784812A> G null I V 49 49 missense 0.005 benign 0.08 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1312102931 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 10q21.2 10 60784815C> T null R W 50 50 missense 1.0 probably damaging 0.01 deleterious 1 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed,gnomAD rs1323937308 10q21.2 10 60784821A> G null I V 52 52 missense 0.051 benign 0.05 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1230964680 10q21.2 10 60784836G> C null E Q 57 57 missense 0.956 probably damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1173075218 10q21.2 10 60784839C> A null L I 58 58 missense 0.92 probably damaging 0.04 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs8755 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q21.2 10 60784842C> T null R C 59 59 missense 0.311 benign 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs8755 10q21.2 10 60784842C> G null R G 59 59 missense 0.023 benign 0.03 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs773501650 10q21.2 10 60784843G> A null R H 59 59 missense 0.0 benign 0.22 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1238716954 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q21.2 10 60784848C> T null P S 61 61 missense 0.154 benign 0.04 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1460089100 10q21.2 10 60785665C> T null L F 66 66 missense 0.593 possibly damaging 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs768316764 10q21.2 10 60785673T> A null D E 68 68 missense 0.025 benign 0.1 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs985951399 10q21.2 10 60785674G> A null V M 69 69 missense 0.968 probably damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs780626115 10q21.2 10 60785677C> T null L F 70 70 missense 0.517 possibly damaging 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs11540347 10q21.2 10 60785683C> T null Q * 72 72 stop gained 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs747663798 10q21.2 10 60785688T> G null D E 73 73 missense 0.005 benign 1.0 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs771169549 10q21.2 10 60785763G> C null Q H 98 98 missense 0.003 benign 0.15 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs374332309 10q21.2 10 60785767A> G null M V 100 100 missense 0.001 benign 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs759629291 10q21.2 10 60785770G> T null D Y 101 101 missense 0.418 benign 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1465016560 10q21.2 10 60785783T> C null V A 105 105 missense 0.105 benign 0.04 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs761017140 10q21.2 10 60788061G> A null S N 107 107 missense 0.609 possibly damaging 0.06 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1482350274 10q21.2 10 60788082A> G null Q R 114 114 missense 0.027 benign 0.4 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1261981012 10q21.2 10 60788102T> G null S A 121 121 missense 0.003 benign 0.27 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs199958833 10q21.2 10 60788112T> G null V G 124 124 missense 0.922 probably damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs563327821 10q21.2 10 60788154A> T null D V 138 138 2.0E-4 missense 0.003 benign 0.18 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs767353239 10q21.2 10 60788156A> C null K Q 139 139 missense 0.007 benign 0.26 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs752316620 10q21.2 10 60788163C> T null T I 141 141 missense 0.0 benign 0.41 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed,gnomAD rs1397780496 10q21.2 10 60788165A> G null I V 142 142 missense 0.062 benign 0.07 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1287451334 10q21.2 10 60788195G> A null A T 152 152 missense 0.193 benign 0.07 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,TOPMed,gnomAD rs748844693 10q21.2 10 60788210A> G null I V 157 157 missense 0.0 benign 1.0 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs756782434 10q21.2 10 60788225C> T null H Y 162 162 missense 0.106 benign 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs759513279 10q21.2 10 60791930G> C null G A 177 177 missense 0.977 probably damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs767261283 10q21.2 10 60791936C> G null A G 179 179 missense 0.062 benign 0.03 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1322570597 10q21.2 10 60791938C> T null R C 180 180 missense 0.742 possibly damaging 0.1 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs45540532 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 10q21.2 10 60791939G> A null R H 180 180 2.0E-4 missense 0.018 benign 0.68 tolerated 1 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs45540532 10q21.2 10 60791939G> T null R L 180 180 2.0E-4 missense 0.007 benign 0.32 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1234513195 10q21.2 10 60791954T> C null V A 185 185 missense 0.291 benign 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,TOPMed,gnomAD rs753490763 10q21.2 10 60791977A> G null I V 193 193 missense 0.769 possibly damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,TOPMed,gnomAD rs756767206 10q21.2 10 60791989C> A null L I 197 197 missense 0.003 benign 0.05 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs944914584 10q21.2 10 60792046A> G null I V 216 216 missense 0.031 benign 0.05 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs764750612 10q21.2 10 60792169T> G null N K 225 225 missense 0.149 benign 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1408749415 10q21.2 10 60792174T> G null V G 227 227 missense 0.194 benign 0.07 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs749964005 10q21.2 10 60792173G> A null V M 227 227 missense 0.04 benign 0.16 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,gnomAD rs373718394 10q21.2 10 60792195T> C null L S 234 234 missense 0.976 probably damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1271439313 10q21.2 10 60792197C> G null Q E 235 235 missense 0.013 benign 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1198047745 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 10q21.2 10 60792208G> T null K N 238 238 missense 0.362 benign 0.06 tolerated 1 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1342614799 10q21.2 10 60792210A> G null N S 239 239 missense 0.001 benign 1.0 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs755351843 10q21.2 10 60792229A> T null K N 245 245 missense 0.003 benign 0.25 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,TOPMed,gnomAD rs748366106 10q21.2 10 60792237G> A null S N 248 248 missense 0.003 benign 0.72 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1208109737 10q21.2 10 60792242G> A null A T 250 250 missense 0.005 benign 0.33 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1373397632 10q21.2 10 60792243C> T null A V 250 250 missense 0.003 benign 0.15 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs113211927 10q21.2 10 60792245T> A null S T 251 251 missense 0.001 benign 0.48 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367855803 10q21.2 10 60792250T> A null H Q 252 252 2.0E-4 missense 0.005 benign 0.38 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed,gnomAD rs755852078 10q21.2 10 60792271T> G null N K 259 259 missense 0.0 benign 0.66 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs749375137 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q21.2 10 60792288C> T null S L 265 265 missense 0.0 benign 0.19 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1386995645 10q21.2 10 60793890A> G null Y C 270 270 missense 0.998 probably damaging 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ESP,gnomAD rs142476851 10q21.2 10 60793908T> C null I T 276 276 missense 0.985 probably damaging 0.01 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs35671174 10q21.2 10 60793917A> G null K R 279 279 missense 0.007 benign 0.3 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a ExAC,gnomAD rs777969351 10q21.2 10 60793929A> G null N S 283 283 missense 0.003 benign 0.71 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1382290424 10q21.2 10 60793935C> T null P L 285 285 missense 0.235 benign 0.02 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a Ensembl rs11540348 10q21.2 10 60793943A> G null N D 288 288 missense 0.0 benign 1.0 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1260427336 10q21.2 10 60793952G> T null D Y 291 291 missense 0.819 possibly damaging 0.0 deleterious 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1388236578 10q21.2 10 60793955A> G null N D 292 292 missense 0.0 benign 0.53 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a gnomAD rs1388236578 10q21.2 10 60793955A> C null N H 292 292 missense 0.0 benign 0.17 tolerated 0 A0A024QZP7 CDK1 Cell division cycle 2, G1 to S and G2 to M, isoform CRA_a TOPMed rs1162806554 10q21.2 10 60793956A> G null N S 292 292 missense 0.0 benign 0.65 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1321577231 6p24.3 6 8430048T> C null N S 6 6 missense 0.001 benign 0.12 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs775155225 6p24.3 6 8430040T> C null R G 9 9 missense 0.003 benign 0.18 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1383314040 6p24.3 6 8430037T> C null K E 10 10 missense 0.091 benign 0.02 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs767415866 6p24.3 6 8430036T> G null K T 10 10 missense 0.468 possibly damaging 0.01 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs759459928 6p24.3 6 8430032A> C null Y * 11 11 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1357661654 6p24.3 6 8430033T> C null Y C 11 11 missense 0.527 possibly damaging 0.09 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1191834197 6p24.3 6 8430022T> A null T S 15 15 missense 0.003 benign 0.87 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1218260045 6p24.3 6 8430018A> G null V A 16 16 missense 0.039 benign 0.02 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs550117055 6p24.3 6 8430019C> T null V M 16 16 2.0E-4 missense 0.014 benign 0.02 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770966789 6p24.3 6 8430010T> C null K E 19 19 missense 0.052 benign 0.15 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs146380653 6p24.3 6 8430002T> G null Q H 21 21 missense 0.0 benign 0.1 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs776313854 6p24.3 6 8430001T> C null T A 22 22 missense 0.0 benign 0.76 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs769923765 6p24.3 6 8429998T> C null M V 23 23 missense 0.011 benign 0.15 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1232953560 6p24.3 6 8429995A> T null S T 24 24 missense 0.039 benign 0.17 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1271544234 6p24.3 6 8429988T> C null H R 26 26 missense 0.147 benign 0.19 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs748468172 6p24.3 6 8429979G> A null S L 29 29 missense 0.011 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781394644 6p24.3 6 8429974C> G null D H 31 31 missense 0.336 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781394644 6p24.3 6 8429974C> T null D N 31 31 missense 0.048 benign 0.32 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs371562817 6p24.3 6 8429971C> T null D N 32 32 missense 0.211 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1474587073 6p24.3 6 8429967A> G null V A 33 33 missense 0.031 benign 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1474587073 6p24.3 6 8429967A> T null V D 33 33 missense 0.192 benign 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141964463 6p24.3 6 8429968C> T null V I 33 33 3.99E-4 missense 0.0 benign 0.91 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1241233616 6p24.3 6 8429962C> T null V I 35 35 missense 0.054 benign 0.78 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs753410372 6p24.3 6 8429959G> A null L F 36 36 missense 0.18 benign 0.1 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1278137628 6p24.3 6 8429955C> T null G D 37 37 missense 0.945 probably damaging 0.57 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs969026360 6p24.3 6 8429951C> T null M I 38 38 missense 0.0 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP rs376659169 6p24.3 6 8429943C> A null S I 41 41 missense 0.467 possibly damaging 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs755719090 6p24.3 6 8429941T> C null K E 42 42 missense 0.007 benign 0.69 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1212440197 6p24.3 6 8429936A> T null F L 43 43 missense 0.001 benign 0.58 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs201086048 6p24.3 6 8429931T> C null K R 45 45 2.0E-4 missense 0.001 benign 0.64 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs201086048 6p24.3 6 8429931T> G null K T 45 45 2.0E-4 missense 0.003 benign 0.29 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs866436116 6p24.3 6 8429929G> A null L F 46 46 missense 0.001 benign 0.7 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs759366208 6p24.3 6 8429928A> T null L H 46 46 missense 0.312 benign 0.54 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs766329109 6p24.3 6 8429923G> A null Q * 48 48 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs766329109 6p24.3 6 8429923G> C null Q E 48 48 missense 0.888 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs202129168 6p24.3 6 8429922T> G null Q P 48 48 missense 0.987 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs202129168 6p24.3 6 8429922T> C null Q R 48 48 missense 0.928 probably damaging 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs769972205 6p24.3 6 8429914T> G null I L 51 51 missense 0.037 benign 0.56 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs866348642 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8429910C> A null C F 52 52 missense 0.973 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs866348642 6p24.3 6 8429910C> T null C Y 52 52 missense 0.99 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1409377975 6p24.3 6 8429868A> C null L * 66 66 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1168371677 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p24.3 6 8429866G> A null Q * 67 67 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,NCI-TCGA,gnomAD rs780769115 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8428058C> T null E K 68 68 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs754632276 6p24.3 6 8428043C> T null V M 73 73 missense 0.026 benign 0.28 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs751281602 6p24.3 6 8428039T> C null E G 74 74 missense 0.071 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs758226161 6p24.3 6 8428037C> T null G S 75 75 missense 0.994 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs750284085 6p24.3 6 8428034A> G null F L 76 76 missense 0.267 benign 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs138204292 6p24.3 6 8428033A> G null F S 76 76 missense 0.978 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs138204292 6p24.3 6 8428033A> T null F Y 76 76 missense 0.733 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1284454918 6p24.3 6 8428028A> G null S P 78 78 missense 0.0 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1487119062 6p24.3 6 8428025A> G null C R 79 79 missense 0.0 benign 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs372940131 6p24.3 6 8428024C> T null C Y 79 79 missense 0.0 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1262930903 6p24.3 6 8428021C> A null G V 80 80 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs764335719 6p24.3 6 8428018C> T null W * 81 81 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs200429479 6p24.3 6 8428017C> T null W * 81 81 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs200429479 6p24.3 6 8428017C> A null W C 81 81 missense 0.99 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs764335719 6p24.3 6 8428018C> G null W S 81 81 missense 0.979 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs774675272 6p24.3 6 8428014G> C null Y * 82 82 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs774675272 6p24.3 6 8428014G> T null Y * 82 82 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1236616659 6p24.3 6 8428015T> C null Y C 82 82 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs759977461 6p24.3 6 8428016A> C null Y D 82 82 missense 0.988 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs759977461 6p24.3 6 8428016A> T null Y N 82 82 missense 0.983 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs771486685 cosmic curated [Cosmic]: breast pubmed:22722201,cosmic_study:385 6p24.3 6 8428013G> A null L F 83 83 missense 0.995 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs747547737 6p24.3 6 8428010T> C null T A 84 84 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs768201981 6p24.3 6 8428003A> G null V A 86 86 missense 0.755 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1286903715 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6p24.3 6 8428001G> A null Q * 87 87 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs200049584 6p24.3 6 8428000T> G null Q P 87 87 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs779708076 6p24.3 6 8427986A> G null S P 92 92 missense 0.99 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs758075645 6p24.3 6 8427983T> C null I V 93 93 missense 0.009 benign 0.61 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs757213109 6p24.3 6 8427970A> G null I T 97 97 missense 0.142 benign 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1455268111 6p24.3 6 8427971T> C null I V 97 97 missense 0.009 benign 0.66 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs753774868 6p24.3 6 8427967T> G null E A 98 98 missense 0.951 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs535191243 6p24.3 6 8427965G> A null L F 99 99 2.0E-4 missense 0.908 possibly damaging 0.7 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1185160530 6p24.3 6 8427960C> A null Q H 100 100 missense 0.95 probably damaging 0.52 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1185160530 6p24.3 6 8427960C> G null Q H 100 100 missense 0.95 probably damaging 0.52 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1390025524 6p24.3 6 8427948G> T null D E 104 104 missense 0.179 benign 0.5 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1485799904 6p24.3 6 8427950C> T null D N 104 104 missense 0.179 benign 0.29 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141256356 6p24.3 6 8427946T> C null K R 105 105 7.99E-4 missense 0.02 benign 0.38 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1213691857 6p24.3 6 8427940C> T null R K 107 107 missense 0.992 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1345789676 6p24.3 6 8427937C> T null R K 108 108 missense 0.241 benign 0.37 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs765743302 6p24.3 6 8422619G> C null P R 110 110 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1248576002 6p24.3 6 8422605T> G null M L 115 115 missense 0.012 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs760110146 6p24.3 6 8422604A> G null M T 115 115 missense 0.517 possibly damaging 0.14 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1248576002 6p24.3 6 8422605T> C null M V 115 115 missense 0.055 benign 0.23 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1469081754 6p24.3 6 8422602T> A null I L 116 116 missense 0.006 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1211616803 6p24.3 6 8422600T> C null I M 116 116 missense 0.152 benign 0.18 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs774976524 6p24.3 6 8422601A> C null I R 116 116 missense 0.601 possibly damaging 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1280037639 6p24.3 6 8422592A> C null F C 119 119 missense 0.984 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1291536851 6p24.3 6 8422593A> G null F L 119 119 missense 0.071 benign 0.5 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs771537703 6p24.3 6 8422590G> C null L V 120 120 missense 0.968 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770722268 6p24.3 6 8422584C> G null V L 122 122 missense 0.122 benign 0.5 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770722268 6p24.3 6 8422584C> T null V M 122 122 missense 0.961 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs954770019 6p24.3 6 8422574A> G null M T 125 125 missense 0.95 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1328296423 6p24.3 6 8422572C> G null G R 126 126 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1460169827 6p24.3 6 8422565G> T null S * 128 128 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1159636485 6p24.3 6 8422563T> C null N D 129 129 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777796568 6p24.3 6 8422550C> G null G A 133 133 missense 0.951 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777796568 6p24.3 6 8422550C> T null G D 133 133 missense 0.994 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1490196666 6p24.3 6 8422537G> T null Y * 137 137 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs769861644 6p24.3 6 8422539A> G null Y H 137 137 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1284766780 6p24.3 6 8422535G> A null P L 138 138 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1284766780 6p24.3 6 8422535G> C null P R 138 138 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1434125999 6p24.3 6 8422530G> C null Q E 140 140 missense 0.955 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs748167381 6p24.3 6 8422526A> G null V A 141 141 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs961790317 6p24.3 6 8422521A> G null F L 143 143 missense 0.914 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1159389371 6p24.3 6 8422516C> G null K N 144 144 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1362627500 6p24.3 6 8422517T> C null K R 144 144 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs907580615 6p24.3 6 8422511C> T null C Y 146 146 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs996300470 6p24.3 6 8422500G> C null P A 150 150 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs987342097 6p24.3 6 8422496A> G null V A 151 151 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1234423632 6p24.3 6 8422497C> G null V L 151 151 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1372589241 6p24.3 6 8422493A> T null M K 152 152 missense 0.985 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1178581274 6p24.3 6 8422494T> C null M V 152 152 missense 0.823 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs780159985 6p24.3 6 8422488C> G null G R 154 154 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs780159985 6p24.3 6 8422488C> T null G R 154 154 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1306002420 6p24.3 6 8422478A> C null F C 157 157 missense 0.838 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1171854322 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8420823G> A null R C 162 162 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs781019652 6p24.3 6 8420822C> T null R H 162 162 missense 0.993 probably damaging 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1420530083 6p24.3 6 8420820A> G null Y H 163 163 missense 0.942 probably damaging 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs768730553 6p24.3 6 8420815A> T null N K 164 164 missense 0.348 benign 0.14 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs747069121 cosmic curated [Cosmic]: central_nervous_system pubmed:22832583,cosmic_study:379 6p24.3 6 8420814C> T null V I 165 165 missense 0.003 benign 0.54 tolerated 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1188557955 6p24.3 6 8420810G> A null A V 166 166 missense 0.005 benign 0.28 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs951065823 6p24.3 6 8420807T> C null D G 167 167 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1486612721 6p24.3 6 8420808C> A null D Y 167 167 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs780251782 6p24.3 6 8420801G> C null S C 169 169 missense 0.035 benign 0.18 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs758613946 6p24.3 6 8420793T> A null I L 172 172 missense 0.0 benign 0.99 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed rs758613946 6p24.3 6 8420793T> C null I V 172 172 missense 0.0 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs750702343 6p24.3 6 8420790A> C null C G 173 173 missense 0.309 benign 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs750702343 6p24.3 6 8420790A> G null C R 173 173 missense 0.752 possibly damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1223485557 6p24.3 6 8420787T> C null M V 174 174 missense 0.976 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1274641474 6p24.3 6 8420783C> G null S T 175 175 missense 0.177 benign 0.52 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1212496479 6p24.3 6 8420777C> A null G V 177 177 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs757657651 6p24.3 6 8420774A> G null L P 178 178 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs754331760 6p24.3 6 8420769A> G null W R 180 180 missense 0.895 possibly damaging 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764533271 6p24.3 6 8420757C> A null A S 184 184 missense 0.972 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764533271 6p24.3 6 8420757C> T null A T 184 184 missense 0.692 possibly damaging 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs759029245 6p24.3 6 8420753T> G null D A 185 185 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs371235196 6p24.3 6 8420751T> C null S G 186 186 missense 0.908 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1355238003 6p24.3 6 8420748T> C null T A 187 187 missense 0.038 benign 0.36 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs202083548 6p24.3 6 8420745T> C null T A 188 188 2.0E-4 missense 0.027 benign 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs976505388 6p24.3 6 8420744G> A null T I 188 188 missense 0.0 benign 0.34 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs868600649 6p24.3 6 8420742C> A null A S 189 189 missense 0.124 benign 1.0 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs139697376 6p24.3 6 8420723G> A null T M 195 195 2.0E-4 missense 0.96 probably damaging 0.22 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs901366430 6p24.3 6 8419675C> T null V M 197 197 missense 0.933 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1253726598 6p24.3 6 8419664A> C null I M 200 200 missense 0.926 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1195377442 6p24.3 6 8419665A> C null I S 200 200 missense 0.962 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs753309521 6p24.3 6 8419662G> A null S F 201 201 missense 0.236 benign 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1439098245 6p24.3 6 8419663A> T null S T 201 201 missense 0.394 benign 0.05 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs765968010 6p24.3 6 8419651A> G null C R 205 205 missense 0.979 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs758025919 6p24.3 6 8419647G> A null A V 206 206 missense 0.933 probably damaging 0.16 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs750043929 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6p24.3 6 8419639C> T null V I 209 209 missense 0.179 benign 0.39 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs371936863 6p24.3 6 8419635A> G null I T 210 210 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1253203388 6p24.3 6 8419633C> T null G R 211 211 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1554118100 6p24.3 6 8419627C> T null V I 213 213 missense 0.679 possibly damaging 0.19 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs868404113 6p24.3 6 8419624G> A null Q * 214 214 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1463495359 cosmic curated [Cosmic]: liver cosmic_study:322 6p24.3 6 8419612T> C null M V 218 218 missense 0.955 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs374380164 6p24.3 6 8419609T> C null K E 219 219 missense 0.983 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1318060033 6p24.3 6 8419607T> A null K N 219 219 missense 0.992 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1286368371 6p24.3 6 8419603G> T null H N 221 221 missense 0.574 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs761598438 6p24.3 6 8419602T> C null H R 221 221 missense 0.968 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs776282547 6p24.3 6 8419600T> G null N H 222 222 missense 0.722 possibly damaging 0.13 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1443461519 6p24.3 6 8419591T> C null N D 225 225 missense 0.992 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764006472 6p24.3 6 8419587G> A null S F 226 226 missense 0.958 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1292736767 6p24.3 6 8419581A> G null M T 228 228 missense 0.867 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1196533655 6p24.3 6 8417493A> G null V A 229 229 missense 0.969 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1255637971 6p24.3 6 8417494C> T null V I 229 229 missense 0.817 possibly damaging 0.06 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs774410829 6p24.3 6 8417490A> G null L S 230 230 missense 0.714 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC rs199599350 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 6p24.3 6 8417487T> C null Y C 231 231 0.0 missense 0.997 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200430359 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8417484G> A null S L 232 232 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs748556231 6p24.3 6 8417476T> G null I L 235 235 missense 0.025 benign 0.18 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781734739 6p24.3 6 8417475A> G null I T 235 235 missense 0.538 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs748556231 6p24.3 6 8417476T> C null I V 235 235 missense 0.024 benign 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144747158 6p24.3 6 8417462G> T null Y * 239 239 0.002596 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC rs778543593 6p24.3 6 8417461T> G null I L 240 240 missense 0.139 benign 0.9 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1392713565 6p24.3 6 8417460A> G null I T 240 240 missense 0.95 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190725185 6p24.3 6 8417454A> G null L P 242 242 9.98E-4 missense 0.683 possibly damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777503753 6p24.3 6 8417445G> A null T I 245 245 missense 0.005 benign 0.59 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1165502797 6p24.3 6 8417446T> A null T S 245 245 missense 0.007 benign 0.24 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1561746986 6p24.3 6 8417443A> C null C G 246 246 missense 0.173 benign 0.17 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1453004882 6p24.3 6 8417440T> C null T A 247 247 missense 0.338 benign 0.05 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs76955948 6p24.3 6 8417427C> T null G D 251 251 missense 0.116 benign 0.21 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs755808845 6p24.3 6 8417421G> T null A E 253 253 missense 0.971 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs752494448 6p24.3 6 8417416T> C null T A 255 255 missense 0.001 benign 0.9 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1178308840 6p24.3 6 8417413A> G null F L 256 256 missense 0.91 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,TOPMed,gnomAD rs137936752 6p24.3 6 8417406G> C null A G 258 258 missense 0.077 benign 0.48 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,TOPMed,gnomAD rs137936752 6p24.3 6 8417406G> A null A V 258 258 missense 0.012 benign 0.61 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1008732309 6p24.3 6 8416989C> G null V L 262 262 missense 0.003 benign 0.62 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs755787757 6p24.3 6 8416985C> T null R Q 263 263 missense 0.0 benign 0.72 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777225733 6p24.3 6 8416986G> A null R W 263 263 missense 0.533 possibly damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs752406652 6p24.3 6 8416982G> T null T N 264 264 missense 0.89 possibly damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs371087191 6p24.3 6 8416978A> C null Y * 265 265 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1487018848 6p24.3 6 8416979T> C null Y C 265 265 missense 0.983 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs370759766 6p24.3 6 8416973T> A null Y F 267 267 missense 0.034 benign 0.04 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs777326370 6p24.3 6 8416971C> T null A T 268 268 missense 0.11 benign 0.1 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,NCI-TCGA,gnomAD rs754810102 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p24.3 6 8416970G> A null A V 268 268 missense 0.058 benign 0.02 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1330934958 6p24.3 6 8416964A> T null L H 270 270 missense 0.963 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143437815 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8416965G> T null L I 270 270 9.98E-4 missense 0.181 benign 0.42 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1312254586 6p24.3 6 8416956G> C null L V 273 273 missense 0.46 possibly damaging 0.15 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1297674489 6p24.3 6 8416952G> T null T N 274 274 missense 0.582 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1427570469 6p24.3 6 8416950C> A null G * 275 275 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1186182171 6p24.3 6 8416940C> G null G A 278 278 missense 0.964 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1373493194 6p24.3 6 8416932A> G null F L 281 281 missense 0.038 benign 0.33 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777032338 6p24.3 6 8416931A> G null F S 281 281 missense 0.521 possibly damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1450081465 6p24.3 6 8416928A> C null V G 282 282 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,NCI-TCGA rs145512512 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 6p24.3 6 8416918C> G null L F 285 285 missense 0.998 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1211012652 6p24.3 6 8416911T> G null I L 288 288 missense 0.001 benign 0.45 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs764511746 6p24.3 6 8416904C> T null G D 290 290 missense 0.889 possibly damaging 0.05 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs761143598 6p24.3 6 8416901G> A null A V 291 291 missense 0.989 probably damaging 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1199579616 6p24.3 6 8416899G> A null L F 292 292 missense 0.465 possibly damaging 0.27 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs775801929 6p24.3 6 8416898A> T null L H 292 292 missense 0.995 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs772639103 6p24.3 6 8416895A> G null I T 293 293 missense 0.02 benign 0.22 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs746429493 6p24.3 6 8416892G> C null A G 294 294 missense 0.996 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs769345087 6p24.3 6 8416884C> A null V L 297 297 missense 0.956 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs756161172 6p24.3 6 8414972T> C null T A 299 299 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs774762743 6p24.3 6 8414968C> T null G E 300 300 missense 0.736 possibly damaging 0.05 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs774762743 6p24.3 6 8414968C> A null G V 300 300 missense 0.09 benign 0.29 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,gnomAD rs377709536 6p24.3 6 8414965C> A null R I 301 301 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1282550036 6p24.3 6 8414959G> T null A E 303 303 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs964980162 6p24.3 6 8414955C> T null M I 304 304 missense 0.042 benign 0.25 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1022320277 6p24.3 6 8414951T> C null I V 306 306 missense 0.058 benign 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs150037099 6p24.3 6 8414948C> T null V I 307 307 missense 0.021 benign 0.53 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs780027674 6p24.3 6 8414945G> A null L F 308 308 missense 0.679 possibly damaging 0.11 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374587821 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,pubmed:22895193,cosmic_study:376,cosmic_study:452 6p24.3 6 8414941G> A null S L 309 309 missense 1.0 probably damaging 0.0 deleterious 1 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1003121144 6p24.3 6 8414942A> G null S P 309 309 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1239589332 6p24.3 6 8414935A> G null I T 311 311 missense 0.16 benign 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1176451855 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8414931G> T null F L 312 312 missense 0.109 benign 0.35 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1002581820 6p24.3 6 8414920G> A null P L 316 316 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs758163827 6p24.3 6 8414921G> A null P S 316 316 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1267038087 6p24.3 6 8414916G> T null F L 317 317 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1286868476 6p24.3 6 8414914G> A null T M 318 318 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs757786010 6p24.3 6 8414910A> C null F L 319 319 missense 0.01 benign 0.33 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs537241906 6p24.3 6 8413699C> A null Q H 320 320 2.0E-4 missense 0.969 probably damaging 0.08 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1400611401 6p24.3 6 8413697T> C null Y C 321 321 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs770986778 6p24.3 6 8413698A> G null Y H 321 321 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1361826298 6p24.3 6 8413690C> T null W * 323 323 stop gained 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs1361826298 6p24.3 6 8413690C> A null W C 323 323 missense 0.997 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs749298011 6p24.3 6 8413686C> G null G R 325 325 missense 0.986 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs777978560 6p24.3 6 8413685C> A null G V 325 325 missense 0.965 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs371370316 6p24.3 6 8413681C> G null L F 326 326 missense 0.048 benign 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs371370316 6p24.3 6 8413681C> A null L F 326 326 missense 0.048 benign 0.07 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1177849394 6p24.3 6 8413676A> G null V A 328 328 missense 0.993 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1177849394 6p24.3 6 8413676A> C null V G 328 328 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1423591720 6p24.3 6 8413668C> T null G S 331 331 missense 0.989 probably damaging 0.01 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1191054960 6p24.3 6 8413665T> C null I V 332 332 missense 0.721 possibly damaging 0.1 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,TOPMed,gnomAD rs188362246 6p24.3 6 8413650A> G null Y H 337 337 3.99E-4 missense 0.974 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs766799654 6p24.3 6 8413642T> A null K N 339 339 missense 0.97 probably damaging 0.0 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed,gnomAD rs569798441 6p24.3 6 8413635C> T null D N 342 342 missense 0.02 benign 0.47 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs763425682 6p24.3 6 8413632T> G null K Q 343 343 missense 0.071 benign 0.09 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1310217577 6p24.3 6 8413628A> T null I K 344 344 missense 0.037 benign 0.03 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,gnomAD rs372727251 6p24.3 6 8413627T> C null I M 344 344 missense 0.003 benign 0.51 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1165365862 6p24.3 6 8413624T> G null R S 345 345 missense 0.009 benign 0.5 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,gnomAD rs760123801 6p24.3 6 8413619G> A null P L 347 347 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140169332 6p24.3 6 8413620G> A null P S 347 347 3.99E-4 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138555152 6p24.3 6 8413617A> G null S P 348 348 0.006789 missense 0.001 benign 0.1 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1402363944 6p24.3 6 8413611A> G null Y H 350 350 missense 0.0 benign 0.51 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs546504771 6p24.3 6 8413608C> A null D Y 351 351 2.0E-4 missense 0.087 benign 0.02 deleterious 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184068804 6p24.3 6 8413603C> G null L F 352 352 2.0E-4 missense 0.178 benign 0.4 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs974619578 6p24.3 6 8413599T> G null N H 354 354 missense 0.087 benign 0.18 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Ensembl rs1561742269 6p24.3 6 8413597G> C null N K 354 354 missense 0.0 benign 0.75 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,ExAC,TOPMed,gnomAD rs142786673 6p24.3 6 8413595T> G null K T 355 355 missense 0.001 benign 0.18 tolerated 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 gnomAD rs1466564596 6p24.3 6 8413592G> A null S L 356 356 missense 0.0 benign 0.53 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs908811179 6p24.3 6 8413589A> G null V A 357 357 missense 0.0 benign 0.47 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs1291189899 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8413590C> T null V M 357 357 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs770900545 6p24.3 6 8413587C> T null E K 358 358 missense 0.0 benign 0.35 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs749208348 6p24.3 6 8413584C> T null A T 359 359 missense 0.0 benign 0.57 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ESP,TOPMed rs375405898 6p24.3 6 8413574G> A null S L 362 362 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs769872030 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p24.3 6 8413568G> A null T M 364 364 missense 0.323 benign 0.03 deleterious - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 ExAC,TOPMed,gnomAD rs781412205 6p24.3 6 8413565A> G null L P 365 365 missense 0.656 possibly damaging 0.08 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 TOPMed rs950423574 6p24.3 6 8413562G> A null A V 366 366 missense 0.326 benign 0.08 tolerated - low confidence 0 A0A024QZW4 SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 1000Genomes,ExAC,gnomAD rs201176928 6p24.3 6 8413550T> A null * L 370 370 2.0E-4 stop lost 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1018325703 6p25.2 6 2959334A> G null I T 4 4 missense 0.003 benign 0.19 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,dbSNP,gnomAD rs779093042 6p25.2 6 2959335T> C null I V 4 4 missense 0.001 benign 0.47 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1225963332 6p25.2 6 2959330C> G null M I 5 5 missense 0.923 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs770912151 6p25.2 6 2959332T> C null M V 5 5 missense 0.879 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1178074123 6p25.2 6 2959328T> C null D G 6 6 missense 0.238 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs749581042 6p25.2 6 2959326C> T null V I 7 7 missense 0.003 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1175149405 6p25.2 6 2959319G> T null A E 9 9 missense 0.098 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs377092491 6p25.2 6 2959320C> T null A T 9 9 missense 0.003 benign 0.09 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs781572313 6p25.2 6 2959316T> G null E A 10 10 missense 0.024 benign 0.28 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs371532463 6p25.2 6 2959317C> T null E K 10 10 missense 0.059 benign 0.33 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP rs376640280 6p25.2 6 2959307C> T null G D 13 13 missense 0.162 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1168478288 6p25.2 6 2959308C> T null G S 13 13 missense 0.17 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs751978309 6p25.2 6 2959304G> T null T N 14 14 missense 0.059 benign 0.14 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs751978309 6p25.2 6 2959304G> C null T S 14 14 missense 0.139 benign 0.29 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs761297437 6p25.2 6 2959284T> C null K E 21 21 missense 0.238 benign 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs753498563 6p25.2 6 2959280G> A null T M 22 22 missense 0.01 benign 0.24 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147083388 6p25.2 6 2959278G> C null L V 23 23 3.99E-4 missense 0.775 possibly damaging 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs775408746 6p25.2 6 2959275C> G null G R 24 24 missense 0.955 probably damaging 0.12 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs775408746 6p25.2 6 2959275C> T null G S 24 24 missense 0.233 benign 0.46 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs771735789 6p25.2 6 2959274C> A null G V 24 24 missense 0.891 possibly damaging 0.05 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,gnomAD rs143500518 6p25.2 6 2959266T> C null N D 27 27 missense 0.03 benign 0.12 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs145375367 6p25.2 6 2959262G> A null S L 28 28 missense 0.099 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs145375367 6p25.2 6 2959262G> C null S W 28 28 missense 0.987 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,TOPMed,gnomAD rs375870990 6p25.2 6 2959259T> C null K R 29 29 missense 0.044 benign 0.54 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1281844981 6p25.2 6 2959257T> A null N Y 30 30 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs773598446 6p25.2 6 2959253A> T null V E 31 31 missense 0.97 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs773598446 6p25.2 6 2959253A> C null V G 31 31 missense 0.96 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1341373572 6p25.2 6 2959251A> C null F V 32 32 missense 0.437 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1253425288 6p25.2 6 2959246G> C null F L 33 33 missense 0.03 benign 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1487326938 6p25.2 6 2959244G> A null S L 34 34 missense 0.771 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1290636465 6p25.2 6 2959242G> A null P S 35 35 missense 0.98 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1451752856 6p25.2 6 2959237C> T null M I 36 36 missense 0.0 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs938436154 6p25.2 6 2959236T> C null S G 37 37 missense 0.483 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145538358 6p25.2 6 2959233T> C null M V 38 38 5.99E-4 missense 0.001 benign 0.11 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs982920044 6p25.2 6 2959229G> A null S F 39 39 missense 0.279 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs748293831 6p25.2 6 2959224C> T null A T 41 41 missense 0.483 possibly damaging 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs755289908 6p25.2 6 2959211A> T null V D 45 45 missense 0.979 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140220538 6p25.2 6 2959212C> T null V I 45 45 2.0E-4 missense 0.329 benign 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1184205501 6p25.2 6 2959207G> T null Y * 46 46 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs147962494 6p25.2 6 2959208T> C null Y C 46 46 missense 0.031 benign 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs147962494 6p25.2 6 2959208T> G null Y S 46 46 missense 0.022 benign 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1561682751 6p25.2 6 2959206T> G null M L 47 47 missense 0.007 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1423708802 6p25.2 6 2959200C> A null A S 49 49 missense 0.781 possibly damaging 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1256116221 6p25.2 6 2959197T> A null K * 50 50 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1256116221 6p25.2 6 2959197T> C null K E 50 50 missense 0.046 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1406918066 6p25.2 6 2959190T> C null N S 52 52 missense 0.015 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed rs753299868 6p25.2 6 2959187G> A null T I 53 53 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144890174 6p25.2 6 2959185C> T null A T 54 54 3.99E-4 missense 0.54 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs752291019 6p25.2 6 2959182C> T null A T 55 55 missense 0.001 benign 0.3 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1298325813 6p25.2 6 2959179G> C null Q E 56 56 missense 0.948 probably damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs767405543 6p25.2 6 2959178T> C null Q R 56 56 missense 0.693 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1320319140 6p25.2 6 2959172G> A null A V 58 58 missense 0.007 benign 0.25 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1398359794 6p25.2 6 2955667G> A null L F 61 61 missense 0.95 probably damaging 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1296292240 6p25.2 6 2955664A> G null S P 62 62 missense 0.851 possibly damaging 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1296292240 6p25.2 6 2955664A> T null S T 62 62 missense 0.192 benign 0.15 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs752410026 6p25.2 6 2955663G> T null S Y 62 62 missense 0.069 benign 0.37 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs767011498 6p25.2 6 2955660A> C null F C 63 63 missense 0.941 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs754833916 6p25.2 6 2955659G> C null F L 63 63 missense 0.005 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1442219139 6p25.2 6 2955658T> C null N D 64 64 missense 0.003 benign 0.35 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs751262205 6p25.2 6 2955655T> C null K E 65 65 missense 0.093 benign 0.15 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1183518055 6p25.2 6 2955653T> G null K N 65 65 missense 0.093 benign 0.05 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs766254249 6p25.2 6 2955651C> T null S N 66 66 missense 0.031 benign 0.38 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs368352906 6p25.2 6 2955648C> T null G D 67 67 missense 0.007 benign 0.48 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,gnomAD rs727503417 6p25.2 6 2955649C> T null G S 67 67 missense 0.006 benign 0.54 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs761738216 cosmic curated [Cosmic]: breast cosmic_study:414 6p25.2 6 2955646C> T null G S 68 68 missense 0.796 possibly damaging 0.16 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1225064036 6p25.2 6 2955642C> T null G D 69 69 missense 0.041 benign 0.2 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1314538545 6p25.2 6 2955640C> T null G R 70 70 missense 0.069 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs760933099 6p25.2 6 2955631G> A null H Y 73 73 missense 0.985 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs139696192 6p25.2 6 2955624C> T null G D 75 75 missense 0.162 benign 0.2 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,gnomAD rs569086788 6p25.2 6 2955619G> A null Q * 77 77 2.0E-4 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs947869732 6p25.2 6 2955615G> A null S F 78 78 missense 0.586 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1304552067 6p25.2 6 2955616A> G null S P 78 78 missense 0.522 possibly damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs779335963 6p25.2 6 2955613G> A null L F 79 79 missense 0.996 probably damaging 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed rs769353821 6p25.2 6 2955610G> A null L F 80 80 missense 0.303 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed rs769353821 6p25.2 6 2955610G> C null L V 80 80 missense 0.66 possibly damaging 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs772566054 6p25.2 6 2955607T> C null T A 81 81 missense 0.012 benign 0.52 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs751225761 6p25.2 6 2955604C> A null E * 82 82 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs751225761 cosmic curated [Cosmic]: endometrium cosmic_study:419 6p25.2 6 2955604C> T null E K 82 82 missense 0.171 benign 0.12 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs751225761 6p25.2 6 2955604C> G null E Q 82 82 missense 0.637 possibly damaging 0.2 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs780061780 6p25.2 6 2955600A> G null V A 83 83 missense 0.69 possibly damaging 0.05 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs750395449 6p25.2 6 2955588C> T null G D 87 87 missense 0.015 benign 0.47 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs538616923 6p25.2 6 2955585G> T null T K 88 88 2.0E-4 missense 0.161 benign 0.15 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs538616923 [ClinVar]: Deafness, autosomal recessive 91 6p25.2 6 2955585G> A null T M 88 88 2.0E-4 missense 0.349 benign 0.02 deleterious 0 Deafness, autosomal recessive 91 (DFNB91) MIM:613453 ClinVar:RCV000764642 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs538616923 6p25.2 6 2955585G> C null T R 88 88 2.0E-4 missense 0.226 benign 0.14 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1435401095 6p25.2 6 2955573A> G null L P 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs760875056 6p25.2 6 2955570C> A null R M 93 93 missense 0.967 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2295769 pubmed:14702039,pubmed:17974005,pubmed:8136380,pubmed:8415716 6p25.2 6 2955568T> C null M V 94 94 0.2129 missense 0.0 benign 0.44 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs866592012 6p25.2 6 2955565C> T null A T 95 95 missense 0.973 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs759829139 6p25.2 6 2955557C> G null R S 97 97 missense 0.551 possibly damaging 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1391225021 6p25.2 6 2955555A> G null L P 98 98 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs774872271 6p25.2 6 2955543T> C null K R 102 102 missense 0.112 benign 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1402656047 6p25.2 6 2955540G> A null S F 103 103 missense 0.834 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1230629041 6p25.2 6 2955532A> G null F L 106 106 missense 0.094 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs749779148 6p25.2 6 2955529G> C null L V 107 107 missense 0.031 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs771798303 6p25.2 6 2954709A> C null S A 109 109 missense 0.012 benign 0.24 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148530934 6p25.2 6 2954708G> T null S Y 109 109 5.99E-4 missense 0.029 benign 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1347898840 6p25.2 6 2954702C> T null R K 111 111 missense 0.0 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs968930117 6p25.2 6 2954694A> G null C R 114 114 missense 0.972 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs778642972 6p25.2 6 2954688T> G null K Q 116 116 missense 0.037 benign 0.23 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl,dbSNP rs397516637 6p25.2 6 2954679G> C null Q E 119 119 missense 0.018 benign 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs757063982 6p25.2 6 2954673C> T null E K 121 121 missense 0.068 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1273529568 6p25.2 6 2954670T> C null M V 122 122 missense 0.031 benign 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1215947691 6p25.2 6 2954665C> G null E D 123 123 missense 0.777 possibly damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,gnomAD rs553009746 6p25.2 6 2954661G> A null L F 125 125 2.0E-4 missense 0.394 benign 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1269010644 6p25.2 6 2954651A> C null I S 128 128 missense 0.005 benign 0.44 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs368785463 cosmic curated [Cosmic]: large_intestine cosmic_study:375 6p25.2 6 2954646C> T null A T 130 130 missense 0.137 benign 0.05 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs374591548 6p25.2 6 2954642A> G null V A 131 131 missense 0.0 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs374591548 6p25.2 6 2954642A> T null V E 131 131 missense 0.062 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs146252067 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 6p25.2 6 2954643C> T null V I 131 131 missense 0.065 benign 0.06 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 dbSNP,gnomAD rs1329989490 6p25.2 6 2954639T> C null E G 132 132 missense 0.688 possibly damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1411805495 6p25.2 6 2954626T> G null K N 136 136 missense 0.026 benign 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs773592860 6p25.2 6 2954622T> G null I L 138 138 missense 0.743 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs773592860 6p25.2 6 2954622T> C null I V 138 138 missense 0.178 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs765731764 6p25.2 6 2954617G> T null N K 139 139 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1371813510 6p25.2 6 2954616T> C null T A 140 140 missense 0.018 benign 0.7 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1181675462 6p25.2 6 2954615G> C null T S 140 140 missense 0.031 benign 0.79 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1233184506 6p25.2 6 2954611C> T null W * 141 141 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1461839580 6p25.2 6 2954613A> G null W R 141 141 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs760282479 6p25.2 6 2954610C> G null V L 142 142 missense 0.669 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1171857229 6p25.2 6 2954599C> G null K N 145 145 missense 0.162 benign 0.05 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,dbSNP,gnomAD rs200861589 6p25.2 6 2954598T> C null T A 146 146 5.99E-4 missense 0.936 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,gnomAD rs78667919 6p25.2 6 2953186C> T null G D 148 148 2.0E-4 missense 0.061 benign 0.13 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1420248778 6p25.2 6 2953183T> G null K T 149 149 missense 0.947 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs750577552 6p25.2 6 2953177G> C null A G 151 151 missense 0.168 benign 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1011266071 6p25.2 6 2953178C> T null A T 151 151 missense 0.001 benign 0.54 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs750577552 6p25.2 6 2953177G> A null A V 151 151 missense 0.005 benign 0.17 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1281588232 6p25.2 6 2953173C> A null E D 152 152 missense 0.003 benign 0.38 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1325863623 6p25.2 6 2953175C> T null E K 152 152 missense 0.038 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1362744366 6p25.2 6 2953168A> G null L P 154 154 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs764659148 6p25.2 6 2953162G> A null P L 156 156 missense 0.031 benign 0.09 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1426996664 6p25.2 6 2953159C> T null G D 157 157 missense 0.026 benign 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2295766 6p25.2 6 2953160C> T null G S 157 157 0.003794 missense 0.101 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,dbSNP,gnomAD rs727503416 6p25.2 6 2953157A> C null S A 158 158 missense 0.011 benign 0.17 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs762734632 6p25.2 6 2953150T> C null D G 160 160 missense 0.267 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141773281 6p25.2 6 2953147G> A null P L 161 161 3.99E-4 missense 0.005 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1288742760 6p25.2 6 2953142T> A null T S 163 163 missense 0.357 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1003446975 6p25.2 6 2953135A> C null L R 165 165 missense 0.994 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs769589382 6p25.2 6 2953133C> T null V I 166 166 missense 0.021 benign 0.12 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs761528606 6p25.2 6 2953127C> T null V M 168 168 missense 0.87 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1561674497 6p25.2 6 2953123T> A null N I 169 169 missense 0.98 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs768585396 6p25.2 6 2953120G> A null A V 170 170 missense 0.613 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,dbSNP rs876657997 6p25.2 6 2953114T> C null Y C 172 172 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1308307779 6p25.2 6 2953109T> A null R * 174 174 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1212905441 6p25.2 6 2953099C> T null W * 177 177 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs746895380 6p25.2 6 2953100A> T null W R 177 177 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs780219055 6p25.2 6 2953096T> C null D G 178 178 missense 0.149 benign 0.11 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1176338435 6p25.2 6 2953097C> T null D N 178 178 missense 0.013 benign 0.51 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs772038204 6p25.2 6 2953094C> T null E K 179 179 missense 0.0 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1403621401 6p25.2 6 2953091G> C null Q E 180 180 missense 0.029 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1302064205 6p25.2 6 2953090T> G null Q P 180 180 missense 0.012 benign 0.31 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1051056254 6p25.2 6 2953084T> C null D G 182 182 missense 0.007 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs373122292 6p25.2 6 2953085C> T null D N 182 182 missense 0.001 benign 0.67 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201274381 6p25.2 6 2953078T> A null E V 184 184 2.0E-4 missense 0.019 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs201952350 6p25.2 6 2953070C> T null E K 187 187 missense 0.0 benign 0.48 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1376301522 6p25.2 6 2953067C> T null E K 188 188 missense 0.386 benign 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs754210089 6p25.2 6 2953063C> A null R I 189 189 missense 0.078 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1447037411 6p25.2 6 2953060A> C null L R 190 190 missense 0.003 benign 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs765973715 6p25.2 6 2953055T> C null K E 192 192 missense 0.743 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs765973715 6p25.2 6 2953055T> G null K Q 192 192 missense 0.209 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs764004468 6p25.2 6 2949069T> C null N D 196 196 missense 0.015 benign 0.18 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs760322224 6p25.2 6 2949067A> C null N K 196 196 missense 0.022 benign 0.71 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1256429895 6p25.2 6 2949066C> T null E K 197 197 missense 0.019 benign 0.12 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs775531558 6p25.2 6 2949063C> T null E K 198 198 missense 0.003 benign 0.98 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs775531558 6p25.2 6 2949063C> G null E Q 198 198 missense 0.007 benign 0.86 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs767312070 6p25.2 6 2949060T> A null K * 199 199 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs759528009 6p25.2 6 2949057G> A null P S 200 200 missense 0.603 possibly damaging 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs774614022 6p25.2 6 2949054C> A null V L 201 201 missense 0.796 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1258667123 6p25.2 6 2949047A> C null M R 203 203 missense 0.941 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1227589700 6p25.2 6 2949044A> G null M T 204 204 missense 0.964 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs773252719 6p25.2 6 2949038T> A null K M 206 206 missense 0.135 benign 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs749580923 6p25.2 6 2949039T> G null K Q 206 206 missense 0.02 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs748420410 6p25.2 6 2949036G> A null Q * 207 207 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1318428057 6p25.2 6 2949033A> C null S A 208 208 missense 0.009 benign 0.98 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs544481054 6p25.2 6 2949030T> C null T A 209 209 missense 0.015 benign 0.21 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs781733784 6p25.2 6 2949023T> C null K R 211 211 missense 0.015 benign 0.41 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs755523811 6p25.2 6 2949017G> A null T I 213 213 missense 0.11 benign 0.2 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1318892247 6p25.2 6 2949018T> A null T S 213 213 missense 0.047 benign 0.24 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs939018024 6p25.2 6 2949013A> T null Y * 214 214 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs747479646 6p25.2 6 2949010T> C null I M 215 215 missense 0.222 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1410209674 6p25.2 6 2949012T> C null I V 215 215 missense 0.001 benign 0.5 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs886134571 6p25.2 6 2949009C> G null G R 216 216 missense 0.02 benign 0.41 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs778458495 6p25.2 6 2949006C> T null E K 217 217 missense 0.101 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs753496457 6p25.2 6 2948989G> C null I M 222 222 missense 0.97 probably damaging 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs777254485 6p25.2 6 2948984A> G null V A 224 224 missense 0.02 benign 0.09 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs755962397 6p25.2 6 2948978G> C null P R 226 226 missense 0.973 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1328797149 6p25.2 6 2948974A> C null Y * 227 227 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1378657152 6p25.2 6 2948976A> G null Y H 227 227 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs752487540 6p25.2 6 2948967T> C null K E 230 230 missense 0.005 benign 0.67 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 dbSNP,gnomAD rs1201327476 [ClinVar]: Rare genetic deafness 6p25.2 6 2948964C> A null E * 231 231 stop gained 0 Rare genetic deafness ClinVar:RCV000601975 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1201327476 6p25.2 6 2948964C> T null E K 231 231 missense 0.523 possibly damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1399975382 6p25.2 6 2948957T> C null N S 233 233 missense 0.019 benign 1.0 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs930371368 6p25.2 6 2948958T> A null N Y 233 233 missense 0.799 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1561668967 6p25.2 6 2948951A> G null I T 235 235 missense 0.246 benign 0.05 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,gnomAD rs138645542 6p25.2 6 2948946T> C null M V 237 237 missense 0.05 benign 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs772585965 6p25.2 6 2948939G> A null P L 239 239 missense 0.996 probably damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs763058302 6p25.2 6 2948936T> A null D V 240 240 missense 0.899 possibly damaging 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs769858532 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6p25.2 6 2948934C> T null E K 241 241 missense 0.05 benign 0.08 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs187482841 6p25.2 6 2948918C> T null R K 246 246 0.002196 missense 0.001 benign 0.72 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs776896710 cosmic curated [Cosmic]: lung cosmic_study:417 6p25.2 6 2948915G> A null T M 247 247 missense 0.063 benign 0.27 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 Ensembl,dbSNP rs267607037 [Ensembl]: Deafness, autosomal recessive 91 (dfnb91), [ClinVar]: Deafness, autosomal recessive 91 pubmed:20451170 6p25.2 6 2948696C> A null E * 249 249 stop gained 0 Deafness, autosomal recessive 91 (DFNB91) MIM:613453 ClinVar:RCV000014571 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs747769939 6p25.2 6 2948687G> A null L F 252 252 missense 0.155 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs780927320 6p25.2 6 2948684T> A null T S 253 253 missense 0.144 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1218441683 6p25.2 6 2948681A> C null Y D 254 254 missense 0.107 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs779969884 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:21798893,cosmic_study:349 6p25.2 6 2948669C> T null V I 258 258 missense 0.001 benign 0.45 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1471324981 6p25.2 6 2948662C> T null W * 260 260 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs758304446 6p25.2 6 2948659G> A null T M 261 261 missense 0.931 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1404747676 6p25.2 6 2948655C> A null R S 262 262 missense 0.013 benign 0.8 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1408365742 6p25.2 6 2948654G> T null L M 263 263 missense 0.831 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs754009164 6p25.2 6 2948648T> G null M L 265 265 missense 0.005 benign 0.67 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs754009164 6p25.2 6 2948648T> A null M L 265 265 missense 0.005 benign 0.67 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs754009164 6p25.2 6 2948648T> C null M V 265 265 missense 0.005 benign 0.52 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs764253709 6p25.2 6 2948643C> T null M I 266 266 missense 0.251 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1250641984 6p25.2 6 2948644A> G null M T 266 266 missense 0.887 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,gnomAD rs199796495 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 6p25.2 6 2948633C> T null E K 270 270 2.0E-4 missense 0.074 benign 0.31 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1448411527 6p25.2 6 2948627C> A null E * 272 272 stop gained 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1294142999 6p25.2 6 2948614G> A null P L 276 276 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs370396473 6p25.2 6 2948611C> A null R L 277 277 missense 0.803 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs370396473 6p25.2 6 2948611C> T null R Q 277 277 missense 0.789 possibly damaging 0.05 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1451542842 6p25.2 6 2948612G> A null R W 277 277 missense 0.52 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs774866778 6p25.2 6 2948603G> C null L V 280 280 missense 0.878 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1327592660 6p25.2 6 2948599T> C null E G 281 281 missense 0.278 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs994520292 6p25.2 6 2948595T> G null E D 282 282 missense 0.035 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs994520292 6p25.2 6 2948595T> A null E D 282 282 missense 0.035 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs769195054 6p25.2 6 2948596T> A null E V 282 282 missense 0.921 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,gnomAD rs377464993 6p25.2 6 2948592G> C null S R 283 283 missense 0.02 benign 0.13 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs150294928 6p25.2 6 2948588C> G null D H 285 285 missense 0.964 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs150294928 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue cosmic_study:440 6p25.2 6 2948588C> T null D N 285 285 missense 0.076 benign 0.16 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 ESP,TOPMed rs369931282 6p25.2 6 2948583C> A null M I 286 286 missense 0.335 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs374321672 6p25.2 6 2948584A> G null M T 286 286 missense 0.735 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs200574376 6p25.2 6 2948585T> C null M V 286 286 2.0E-4 missense 0.099 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs758198797 6p25.2 6 2948575A> T null V D 289 289 missense 0.717 possibly damaging 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs778841769 6p25.2 6 2948570G> A null R C 291 291 missense 0.005 benign 0.31 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs566604967 cosmic curated [Cosmic]: lung cosmic_study:418 6p25.2 6 2948569C> T null R H 291 291 2.0E-4 missense 0.013 benign 0.43 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs912094262 6p25.2 6 2948560C> T null G D 294 294 missense 0.995 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs912094262 6p25.2 6 2948560C> A null G V 294 294 missense 0.998 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs756395142 6p25.2 6 2948548G> T null A D 298 298 missense 0.979 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs752907413 6p25.2 6 2948543C> T null E K 300 300 missense 0.375 benign 0.05 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs752907413 6p25.2 6 2948543C> G null E Q 300 300 missense 0.136 benign 0.43 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs767790339 6p25.2 6 2948537C> A null G C 302 302 missense 0.758 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1267953165 6p25.2 6 2948536C> T null G D 302 302 missense 0.012 benign 0.21 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1028904180 6p25.2 6 2948533T> G null K T 303 303 missense 0.02 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs774754668 6p25.2 6 2948530G> T null A E 304 304 missense 0.999 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201754754 6p25.2 6 2948528C> T null D N 305 305 2.0E-4 missense 0.734 possibly damaging 0.09 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs924861233 6p25.2 6 2948521G> A null S F 307 307 missense 0.989 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1314436539 6p25.2 6 2948513A> G null S P 310 310 missense 0.076 benign 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs199881345 6p25.2 6 2948507T> C null T A 312 312 missense 0.0 benign 0.51 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs776317863 6p25.2 6 2948506G> C null T R 312 312 missense 0.0 benign 0.87 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs768273992 6p25.2 6 2948502G> T null D E 313 313 missense 0.031 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1470729759 6p25.2 6 2948501G> C null L V 314 314 missense 0.999 probably damaging 0.1 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1357095797 6p25.2 6 2948492A> G null S P 317 317 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1408198187 6p25.2 6 2948489T> C null K E 318 318 missense 0.026 benign 0.19 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl,dbSNP rs876657582 6p25.2 6 2948488T> C null K R 318 318 missense 0.025 benign 0.07 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs775223503 6p25.2 6 2948486C> A null V F 319 319 missense 0.622 possibly damaging 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs775223503 6p25.2 6 2948486C> T null V I 319 319 missense 0.398 benign 0.16 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs550855004 6p25.2 6 2948483C> G null V L 320 320 2.0E-4 missense 0.18 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs550855004 cosmic curated [Cosmic]: large_intestine cosmic_study:375 6p25.2 6 2948483C> T null V M 320 320 2.0E-4 missense 0.397 benign 0.07 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1421111088 6p25.2 6 2948473G> C null S C 323 323 missense 0.813 possibly damaging 0.22 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1489213532 6p25.2 6 2948469A> C null F L 324 324 missense 0.97 probably damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs745633507 6p25.2 6 2948470A> G null F S 324 324 missense 0.996 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs756196273 6p25.2 6 2948458T> C null N S 328 328 missense 0.138 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,gnomAD rs374188748 6p25.2 6 2948456C> T null E K 329 329 missense 0.74 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs376116821 6p25.2 6 2948446G> A null T M 332 332 missense 0.998 probably damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs781438732 6p25.2 6 2948432C> A null A S 337 337 missense 0.702 possibly damaging 0.05 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs781438732 6p25.2 6 2948432C> T null A T 337 337 missense 0.575 possibly damaging 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs752001917 6p25.2 6 2948428G> A null T I 338 338 missense 0.988 probably damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs766618230 6p25.2 6 2948423C> G null A P 340 340 missense 0.059 benign 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC rs763618033 6p25.2 6 2948422G> A null A V 340 340 missense 0.025 benign 0.53 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs750948748 6p25.2 6 2948417T> C null M V 342 342 missense 0.001 benign 0.72 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs763709966 6p25.2 6 2948412C> T null M I 343 343 missense 0.007 benign 0.39 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs760194824 6p25.2 6 2948407C> T null R Q 345 345 missense 0.052 benign 0.23 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1280223777 6p25.2 6 2948408G> A null R W 345 345 missense 0.765 possibly damaging 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1462226443 6p25.2 6 2948404C> T null C Y 346 346 missense 0.799 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs1034792235 6p25.2 6 2948402C> T null A T 347 347 missense 0.031 benign 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61737420 cosmic curated [Cosmic]: pancreas cosmic_study:382 6p25.2 6 2948393C> T null V I 350 350 0.003395 missense 0.003 benign 0.29 tolerated 1 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs759080903 6p25.2 6 2948390G> A null P S 351 351 missense 0.031 benign 0.05 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,dbSNP,gnomAD rs774270238 6p25.2 6 2948387G> A null R C 352 352 missense 0.033 benign 0.04 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs774270238 6p25.2 6 2948387G> C null R G 352 352 missense 0.409 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs770619586 6p25.2 6 2948386C> T null R H 352 352 missense 0.021 benign 0.21 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1254023131 6p25.2 6 2948384A> T null F I 353 353 missense 0.584 possibly damaging 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 gnomAD rs1254023131 6p25.2 6 2948384A> G null F L 353 353 missense 0.447 possibly damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,gnomAD rs571608493 6p25.2 6 2948383A> G null F S 353 353 2.0E-4 missense 0.978 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs777623703 6p25.2 6 2948380C> T null C Y 354 354 missense 0.029 benign 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed,gnomAD rs972231546 6p25.2 6 2948378C> T null A T 355 355 missense 0.988 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs199684069 6p25.2 6 2948375C> T null D N 356 356 2.0E-4 missense 0.322 benign 0.06 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs755264422 6p25.2 6 2948372G> A null H Y 357 357 missense 0.972 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1561667003 6p25.2 6 2948366A> G null F L 359 359 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs780521331 6p25.2 6 2948344C> G null S T 366 366 missense 0.007 benign 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 Ensembl rs1007283930 6p25.2 6 2948335T> C null N S 369 369 missense 0.013 benign 0.27 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs760282663 6p25.2 6 2948332C> G null G A 370 370 missense 0.001 benign 0.09 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs765798757 6p25.2 6 2948333C> T null G R 370 370 missense 0.284 benign 0.01 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs752293739 6p25.2 6 2948329A> T null I N 371 371 missense 0.97 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes rs200355535 6p25.2 6 2948327G> A null L F 372 372 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs773817659 6p25.2 6 2948323A> G null F S 373 373 missense 0.999 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs762701058 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 6p25.2 6 2948318C> T null G S 375 375 missense 0.994 probably damaging 0.0 deleterious 1 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs192407835 6p25.2 6 2948317C> A null G V 375 375 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 1000Genomes,ExAC,TOPMed,gnomAD rs201117044 6p25.2 6 2948315G> A null R C 376 376 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,TOPMed,gnomAD rs748043996 6p25.2 6 2948314C> T null R H 376 376 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs776835532 6p25.2 6 2948312A> G null F L 377 377 missense 0.113 benign 0.08 tolerated 0 A0A024QZX5 SERPINB6 Serpin B6 TOPMed rs1161574229 6p25.2 6 2948308G> T null S Y 378 378 missense 0.882 possibly damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs747264946 6p25.2 6 2948305G> C null S C 379 379 missense 0.412 benign 0.03 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs747264946 6p25.2 6 2948305G> A null S F 379 379 missense 0.962 probably damaging 0.02 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ESP,ExAC,TOPMed,gnomAD rs369004254 6p25.2 6 2948302G> A null P L 380 380 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs758863651 6p25.2 6 2948303G> A null P S 380 380 missense 1.0 probably damaging 0.0 deleterious 0 A0A024QZX5 SERPINB6 Serpin B6 ExAC,gnomAD rs757907504 6p25.2 6 2948299C> G null * S 381 381 stop lost 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781952967 19q13.2 19 41708735G> T null E * 2 2 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781952967 19q13.2 19 41708735G> A null E K 2 2 missense 0.343 benign 0.27 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781952967 19q13.2 19 41708735G> C null E Q 2 2 missense 0.681 possibly damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813329 19q13.2 19 41708738T> A null S T 3 3 missense 0.113 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs267605502 19q13.2 19 41708742C> T null P L 4 4 missense 0.076 benign 0.19 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1342394678 19q13.2 19 41708744T> G null S A 5 5 missense 0.615 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs201518445 19q13.2 19 41708745C> T null S L 5 5 2.0E-4 missense 0.084 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782150992 19q13.2 19 41708748C> T null A V 6 6 missense 0.031 benign 0.14 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1239120122 19q13.2 19 41708751C> T null P L 7 7 missense 0.503 possibly damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1040941041 19q13.2 19 41708756C> G null H D 9 9 missense 0.185 benign 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782815290 19q13.2 19 41708757A> G null H R 9 9 missense 0.037 benign 0.34 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781793706 19q13.2 19 41708763G> A null W * 11 11 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1555813343 19q13.2 19 41708764G> T null W C 11 11 missense 0.879 possibly damaging 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781793706 19q13.2 19 41708763G> T null W L 11 11 missense 0.031 benign 0.86 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813340 19q13.2 19 41708762T> C null W R 11 11 missense 0.031 benign 0.79 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813344 19q13.2 19 41708766G> A null C Y 12 12 missense 0.07 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs200391100 19q13.2 19 41708770C> G null I M 13 13 missense 0.976 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782727394 19q13.2 19 41708771C> T null P S 14 14 missense 0.89 possibly damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1287007958 19q13.2 19 41708774T> C null W R 15 15 missense 0.444 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1026803117 19q13.2 19 41708777C> T null Q * 16 16 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs200859918 19q13.2 19 41708782G> C null R S 17 17 3.99E-4 missense 0.233 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781846226 19q13.2 19 41708781G> C null R T 17 17 missense 0.07 benign 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1336523706 19q13.2 19 41708783C> T null L F 18 18 missense 0.279 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1336523706 19q13.2 19 41708783C> G null L V 18 18 missense 0.279 benign 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813351 19q13.2 19 41708790T> C null L P 20 20 missense 0.996 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782551516 19q13.2 19 41709680C> A null A D 22 22 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs782259884 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 19q13.2 19 41709692C> A null T N 26 26 missense 0.55 possibly damaging 0.05 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813587 19q13.2 19 41709694T> A null F I 27 27 missense 0.979 probably damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs369263590 19q13.2 19 41709698G> A null W * 28 28 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs782202653 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19q13.2 19 41709704C> T null P L 30 30 missense 0.117 benign 1.0 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1390734199 19q13.2 19 41709706C> G null P A 31 31 missense 0.936 probably damaging 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1189230508 19q13.2 19 41709720G> C null K N 35 35 missense 0.127 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1368783171 19q13.2 19 41709718A> C null K Q 35 35 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813620 19q13.2 19 41709725C> T null T I 37 37 missense 0.343 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782785872 19q13.2 19 41709728T> A null I N 38 38 missense 0.037 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782785872 19q13.2 19 41709728T> C null I T 38 38 missense 0.007 benign 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782156211 19q13.2 19 41709727A> G null I V 38 38 missense 0.023 benign 0.52 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs111403501 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41709737C> T null T M 41 41 missense 0.01 benign 0.16 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs782504876 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.2 19 41709740C> T null P L 42 42 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782504876 19q13.2 19 41709740C> A null P Q 42 42 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813639 19q13.2 19 41709742T> C null F L 43 43 missense 0.171 benign 0.67 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813643 19q13.2 19 41709745A> G null N D 44 44 missense 0.197 benign 0.35 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813653 19q13.2 19 41709747T> A null N K 44 44 missense 0.197 benign 0.22 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs140967734 19q13.2 19 41709746A> G null N S 44 44 missense 0.007 benign 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs140967734 19q13.2 19 41709746A> C null N T 44 44 missense 0.138 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140477498 19q13.2 19 41709751G> C null A P 46 46 0.02236 missense 0.986 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140477498 19q13.2 19 41709751G> A null A T 46 46 0.02236 missense 0.54 possibly damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1298504126 19q13.2 19 41709763G> C null E Q 50 50 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813668 19q13.2 19 41709769C> A null L I 52 52 missense 0.444 benign 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1316165149 19q13.2 19 41709775C> T null L F 54 54 missense 0.976 probably damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813676 19q13.2 19 41709779T> C null V A 55 55 missense 0.01 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1400006391 19q13.2 19 41709783C> A null H Q 56 56 missense 0.713 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782298600 19q13.2 19 41709781C> T null H Y 56 56 missense 0.108 benign 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782423973 19q13.2 19 41709785A> G null N S 57 57 missense 0.402 benign 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1391241304 19q13.2 19 41709784A> T null N Y 57 57 missense 0.219 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813679 19q13.2 19 41709797A> G null H R 61 61 missense 0.0 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782251588 19q13.2 19 41709819C> G null Y * 68 68 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes rs202184382 19q13.2 19 41709818A> G null Y C 68 68 2.0E-4 missense 0.2 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782363167 19q13.2 19 41709824G> A null G D 70 70 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,NCI-TCGA,gnomAD rs201178300 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41709826G> A null E K 71 71 5.99E-4 missense 0.321 benign 0.24 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782032742 19q13.2 19 41709833T> C null V A 73 73 missense 0.839 possibly damaging 0.2 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813693 19q13.2 19 41709832G> C null V L 73 73 missense 0.396 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813698 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 19q13.2 19 41709835G> A null D N 74 74 missense 0.236 benign 0.1 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782789683 19q13.2 19 41709842A> C null N T 76 76 missense 0.084 benign 0.5 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs781851303 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41709844C> T null R C 77 77 missense 0.009 benign 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs137884611 19q13.2 19 41709845G> A null R H 77 77 2.0E-4 missense 0.003 benign 0.94 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1363161517 19q13.2 19 41709849A> C null Q H 78 78 missense 0.482 possibly damaging 0.48 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813704 19q13.2 19 41709851T> G null I S 79 79 missense 0.962 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs201527439 19q13.2 19 41709854T> C null I T 80 80 missense 0.015 benign 0.23 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12971352 19q13.2 19 41709853A> G null I V 80 80 0.1633 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs143925794 19q13.2 19 41709860A> G null Y C 82 82 missense 0.221 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs143925794 19q13.2 19 41709860A> T null Y F 82 82 missense 0.855 possibly damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28683503 19q13.2 19 41709863T> C null V A 83 83 0.1623 missense 0.007 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782622659 19q13.2 19 41709866T> A null I K 84 84 missense 0.113 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782215853 19q13.2 19 41709869G> T null G V 85 85 missense 0.124 benign 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782327893 19q13.2 19 41709872C> T null T I 86 86 missense 0.015 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782327893 19q13.2 19 41709872C> G null T S 86 86 missense 0.025 benign 0.42 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1015363581 19q13.2 19 41709878A> C null Q P 88 88 missense 0.284 benign 0.26 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1364668359 19q13.2 19 41709887C> T null P L 91 91 missense 0.108 benign 0.38 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1364668359 19q13.2 19 41709887C> G null P R 91 91 missense 0.108 benign 0.22 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1568699121 19q13.2 19 41709886C> T null P S 91 91 missense 0.171 benign 0.23 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782417451 19q13.2 19 41709895G> T null A S 94 94 missense 0.949 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782417451 19q13.2 19 41709895G> A null A T 94 94 missense 0.596 possibly damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113590637 19q13.2 19 41709898T> A null Y N 95 95 missense 0.155 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs755587636 19q13.2 19 41709901A> G null S G 96 96 missense 0.931 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781950072 19q13.2 19 41709904G> T null G C 97 97 missense 0.89 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1478679920 19q13.2 19 41709905G> A null G D 97 97 missense 0.599 possibly damaging 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs939162828 19q13.2 19 41709907C> T null R * 98 98 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782062081 19q13.2 19 41709908G> A null R Q 98 98 missense 0.842 possibly damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782691295 19q13.2 19 41709911A> G null E G 99 99 missense 0.951 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1490294094 19q13.2 19 41709913A> T null I L 100 100 missense 0.015 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs112905632 19q13.2 19 41709914T> C null I T 100 100 0.03395 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,gnomAD rs377584490 19q13.2 19 41709917T> C null I T 101 101 missense 0.062 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1272452547 19q13.2 19 41709921C> A null Y * 102 102 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782783323 19q13.2 19 41709919T> C null Y H 102 102 missense 0.341 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782783323 19q13.2 19 41709919T> A null Y N 102 102 missense 0.108 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs74626868 19q13.2 19 41709922C> T null P S 103 103 0.006989 missense 0.122 benign 0.38 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74626868 19q13.2 19 41709922C> A null P T 103 103 0.006989 missense 0.237 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs370822239 19q13.2 19 41709926A> G null N S 104 104 missense 0.55 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1402981682 19q13.2 19 41709929C> G null A G 105 105 missense 0.219 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1402981682 19q13.2 19 41709929C> T null A V 105 105 missense 0.32 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs150911810 19q13.2 19 41709932C> G null S C 106 106 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813745 19q13.2 19 41709931T> A null S T 106 106 missense 0.219 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1411339693 19q13.2 19 41709937C> A null L M 108 108 missense 0.991 probably damaging 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782552359 19q13.2 19 41709938T> C null L P 108 108 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782667351 19q13.2 19 41709942C> G null I M 109 109 missense 0.408 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782256585 19q13.2 19 41709947A> C null N T 111 111 missense 0.94 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34155934 19q13.2 19 41709949A> G null I V 112 112 0.1296 missense 0.006 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35091611 19q13.2 19 41709953T> C null I T 113 113 0.1296 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813759 19q13.2 19 41709957G> T null Q H 114 114 missense 0.201 benign 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs375689687 19q13.2 19 41709959A> T null N I 115 115 missense 0.972 probably damaging 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs375689687 19q13.2 19 41709959A> G null N S 115 115 missense 0.216 benign 0.22 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1480379979 19q13.2 19 41709965C> A null T K 117 117 missense 0.408 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782323435 19q13.2 19 41709968G> C null G A 118 118 missense 0.889 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs781974521 19q13.2 19 41709973T> C null Y H 120 120 missense 0.91 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782400172 19q13.2 19 41709976A> T null T S 121 121 missense 0.783 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781988963 19q13.2 19 41709979C> A null L I 122 122 missense 0.435 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143742915 19q13.2 19 41709984C> A null H Q 123 123 0.001797 missense 0.003 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs550154092 19q13.2 19 41709985G> A null V I 124 124 2.0E-4 missense 0.187 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed rs782811516 19q13.2 19 41709990A> G null I M 125 125 missense 0.991 probably damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813778 19q13.2 19 41709992A> T null K M 126 126 missense 0.27 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146721225 19q13.2 19 41709999T> A null D E 128 128 5.99E-4 missense 0.912 probably damaging 0.23 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1221661282 19q13.2 19 41709998A> T null D V 128 128 missense 0.973 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813786 19q13.2 19 41710000C> T null L F 129 129 missense 0.513 possibly damaging 0.89 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1288821853 19q13.2 19 41710003G> A null V M 130 130 missense 0.627 possibly damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs148884404 19q13.2 19 41710011A> T null E D 132 132 missense 0.783 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1278611348 19q13.2 19 41710022G> A null G D 136 136 missense 0.987 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs3815780 19q13.2 19 41710025A> T null Q L 137 137 0.003195 missense 0.29 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs3815780 cosmic curated [Cosmic]: stomach cosmic_study:371 19q13.2 19 41710025A> C null Q P 137 137 0.003195 missense 0.959 probably damaging 0.0 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs782477374 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21984974,cosmic_study:357 19q13.2 19 41710031G> A null R Q 139 139 missense 0.165 benign 0.15 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs200369485 19q13.2 19 41710030C> T null R W 139 139 0.001797 missense 0.011 benign 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813805 19q13.2 19 41710038C> G null Y * 141 141 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813807 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.2 19 41710039C> G null P A 142 142 missense 0.167 benign 0.15 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1054821520 19q13.2 19 41714971C> T null P L 142 142 missense 0.097 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555813807 19q13.2 19 41710039C> T null P S 142 142 missense 0.205 benign 0.25 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs373889998 19q13.2 19 41714989C> T null S F 148 148 missense 0.023 benign 0.62 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs916790457 19q13.2 19 41714992T> C null I T 149 149 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782137330 19q13.2 19 41714991A> G null I V 149 149 missense 0.591 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143589559 19q13.2 19 41714998G> A null S N 151 151 2.0E-4 missense 0.993 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814620 19q13.2 19 41715004A> G null N S 153 153 missense 0.859 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814620 19q13.2 19 41715004A> C null N T 153 153 missense 0.859 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781845608 19q13.2 19 41715006T> G null S A 154 154 missense 0.91 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1359926864 19q13.2 19 41715012C> A null P T 156 156 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs368068137 19q13.2 19 41715015G> C null V L 157 157 missense 0.509 possibly damaging 0.16 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368068137 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23917401,cosmic_study:329,cosmic_study:552 19q13.2 19 41715015G> A null V M 157 157 missense 0.716 possibly damaging 0.18 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1373488448 19q13.2 19 41715022A> G null D G 159 159 missense 0.846 possibly damaging 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814633 19q13.2 19 41715030G> A null A T 162 162 missense 0.912 probably damaging 0.76 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs902700262 19q13.2 19 41715031C> T null A V 162 162 missense 0.268 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs371758270 19q13.2 19 41715033G> A null V M 163 163 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1040433933 19q13.2 19 41715042A> C null T P 166 166 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781871350 19q13.2 19 41715051C> T null P S 169 169 missense 0.805 possibly damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs60336130 19q13.2 19 41715056G> T null E D 170 170 missense 0.044 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115472929 19q13.2 19 41715065C> G null D E 173 173 0.009585 missense 0.172 benign 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115472929 19q13.2 19 41715065C> A null D E 173 173 0.009585 missense 0.172 benign 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs368142383 cosmic curated [Cosmic]: breast pubmed:22722201,cosmic_study:385 19q13.2 19 41715063G> A null D N 173 173 missense 0.015 benign 1.0 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782212178 19q13.2 19 41715066G> A null A T 174 174 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814650 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41715070C> T null T I 175 175 missense 0.997 probably damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782564710 19q13.2 19 41715073A> G null Y C 176 176 missense 0.632 possibly damaging 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782396480 19q13.2 19 41715083G> T null W C 179 179 missense 0.991 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782288851 19q13.2 19 41715082G> C null W S 179 179 missense 0.982 probably damaging 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs781992472 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41715084G> A null V I 180 180 missense 0.435 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs140663408 19q13.2 19 41715089C> A null N K 181 181 missense 0.125 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782103200 19q13.2 19 41715088A> G null N S 181 181 missense 0.342 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814658 19q13.2 19 41715090A> G null N D 182 182 missense 0.164 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814661 19q13.2 19 41715091A> G null N S 182 182 missense 0.32 benign 0.46 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs147510914 cosmic curated [Cosmic]: skin pubmed:21499247,cosmic_study:348 19q13.2 19 41715097G> A null S N 184 184 missense 0.709 possibly damaging 0.08 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1234442415 19q13.2 19 41715099C> T null L F 185 185 missense 0.76 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs113097830 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41715103C> T null P L 186 186 0.002596 missense 0.028 benign 0.24 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs113097830 19q13.2 19 41715103C> A null P Q 186 186 0.002596 missense 0.608 possibly damaging 0.25 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814674 19q13.2 19 41715120C> G null Q E 192 192 missense 0.009 benign 0.83 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782751995 19q13.2 19 41715122G> C null Q H 192 192 missense 0.75 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814676 19q13.2 19 41715129A> C null N H 195 195 missense 0.921 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1374478613 19q13.2 19 41715133G> A null G D 196 196 missense 0.025 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1374478613 19q13.2 19 41715133G> T null G V 196 196 missense 0.947 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781785530 19q13.2 19 41715137C> A null N K 197 197 missense 0.854 possibly damaging 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782660405 19q13.2 19 41715139G> A null R K 198 198 missense 0.91 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1436036251 19q13.2 19 41715144C> G null L V 200 200 missense 0.969 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782258088 19q13.2 19 41715148C> T null T I 201 201 missense 0.991 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782503209 19q13.2 19 41715154T> C null F S 203 203 missense 0.275 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782602037 19q13.2 19 41715160T> C null V A 205 205 missense 0.954 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782198510 19q13.2 19 41715163C> T null T I 206 206 missense 0.991 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs562617012 19q13.2 19 41715166G> A null R K 207 207 2.0E-4 missense 0.91 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1419342024 19q13.2 19 41715169A> T null N I 208 208 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1482649811 19q13.2 19 41715172A> G null D G 209 209 missense 0.987 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1482649811 19q13.2 19 41715172A> T null D V 209 209 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1175282299 19q13.2 19 41715171G> T null D Y 209 209 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs17853315 19q13.2 19 41715174A> G null T A 210 210 missense 0.051 benign 0.16 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs17853315 19q13.2 19 41715174A> T null T S 210 210 missense 0.051 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782039954 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.2 19 41715178C> A null A E 211 211 missense 0.62 possibly damaging 0.0 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782039954 19q13.2 19 41715178C> G null A G 211 211 missense 0.006 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1486684273 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41715177G> A null A T 211 211 missense 0.538 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1005474927 19q13.2 19 41715181G> A null S N 212 212 missense 0.062 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs533268241 19q13.2 19 41715180A> C null S R 212 212 2.0E-4 missense 0.063 benign 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781991272 19q13.2 19 41715183T> C null Y H 213 213 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782093327 19q13.2 19 41715189T> C null C R 215 215 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375538670 19q13.2 19 41715194A> T null E D 216 216 9.98E-4 missense 0.379 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1232759988 19q13.2 19 41715192G> A null E K 216 216 missense 0.379 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781931742 19q13.2 19 41715199A> G null Q R 218 218 missense 0.888 possibly damaging 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs369870451 19q13.2 19 41715201A> C null N H 219 219 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141597462 19q13.2 19 41715202A> G null N S 219 219 7.99E-4 missense 0.953 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782511943 19q13.2 19 41715204C> G null P A 220 220 missense 0.222 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782753397 19q13.2 19 41715205C> T null P L 220 220 missense 0.541 possibly damaging 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782511943 19q13.2 19 41715204C> T null P S 220 220 missense 0.039 benign 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782511943 19q13.2 19 41715204C> A null P T 220 220 missense 0.303 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781830094 19q13.2 19 41715207G> A null V M 221 221 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs372254328 19q13.2 19 41715210A> G null S G 222 222 missense 0.916 probably damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782292675 19q13.2 19 41715214C> A null A D 223 223 missense 0.387 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782583835 19q13.2 19 41715213G> A null A T 223 223 missense 0.093 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782292675 19q13.2 19 41715214C> T null A V 223 223 missense 0.003 benign 0.36 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814732 19q13.2 19 41715216A> G null R G 224 224 missense 0.142 benign 0.59 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs150900406 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract pubmed:22810696,pubmed:24185509,cosmic_study:376,cosmic_study:553 19q13.2 19 41715219C> T null R C 225 225 5.99E-4 missense 0.988 probably damaging 0.07 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150900406 19q13.2 19 41715219C> G null R G 225 225 5.99E-4 missense 0.969 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs376770900 19q13.2 19 41715220G> A null R H 225 225 missense 0.984 probably damaging 0.26 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs376770900 19q13.2 19 41715220G> T null R L 225 225 missense 0.969 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150900406 19q13.2 19 41715219C> A null R S 225 225 5.99E-4 missense 0.969 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814742 19q13.2 19 41715229C> T null S L 228 228 missense 0.0 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782136127 19q13.2 19 41715232T> C null V A 229 229 missense 0.173 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814745 19q13.2 19 41715231G> C null V L 229 229 missense 0.001 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,gnomAD rs368912460 19q13.2 19 41715236C> G null I M 230 230 missense 0.138 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1189942967 19q13.2 19 41715235T> A null I N 230 230 missense 0.001 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes rs199564277 19q13.2 19 41715238T> C null L P 231 231 missense 0.964 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781976338 19q13.2 19 41715242T> A null N K 232 232 missense 0.924 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814751 19q13.2 19 41715249T> C null Y H 235 235 missense 0.998 probably damaging 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs200472113 cosmic curated [Cosmic]: liver cosmic_study:381 19q13.2 19 41715656C> T null P L 237 237 2.0E-4 missense 0.998 probably damaging 0.05 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs200472113 19q13.2 19 41715656C> G null P R 237 237 2.0E-4 missense 0.999 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814888 19q13.2 19 41715655C> A null P T 237 237 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,TOPMed,gnomAD rs199857011 19q13.2 19 41715661G> T null A S 239 239 missense 0.142 benign 0.2 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,TOPMed,gnomAD rs199857011 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41715661G> A null A T 239 239 missense 0.01 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781981768 19q13.2 19 41715668C> T null T I 241 241 missense 0.042 benign 0.43 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814893 19q13.2 19 41715670A> G null I V 242 242 missense 0.318 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1412930045 19q13.2 19 41715676C> T null P S 244 244 missense 0.998 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814899 19q13.2 19 41715695G> A null R K 250 250 missense 0.05 benign 0.27 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1159428567 19q13.2 19 41715698C> T null S L 251 251 missense 0.0 benign 0.44 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs781924507 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41715703G> A null E K 253 253 missense 0.067 benign 0.44 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP rs149409426 19q13.2 19 41715713A> G null N S 256 256 missense 0.007 benign 0.97 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200945684 19q13.2 19 41715712A> T null N Y 256 256 5.99E-4 missense 0.693 possibly damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs140053609 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41715727G> A null A T 261 261 2.0E-4 missense 0.342 benign 0.37 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1284503220 19q13.2 19 41715734C> G null S C 263 263 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782747516 19q13.2 19 41715737A> G null N S 264 264 missense 0.558 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144819038 19q13.2 19 41715740C> T null P L 265 265 2.0E-4 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782557844 19q13.2 19 41715743C> T null P L 266 266 missense 0.26 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782528208 19q13.2 19 41715749A> G null Q R 268 268 missense 0.917 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1233774622 19q13.2 19 41715751T> C null Y H 269 269 missense 0.98 probably damaging 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814920 19q13.2 19 41715754T> C null S P 270 270 missense 0.551 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1357307683 19q13.2 19 41715758G> A null W * 271 271 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1568704155 19q13.2 19 41715760T> C null F L 272 272 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,TOPMed rs148587179 19q13.2 19 41715763G> A null V I 273 273 missense 0.003 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782355979 19q13.2 19 41715767A> G null N S 274 274 missense 0.094 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782242021 19q13.2 19 41715766A> T null N Y 274 274 missense 0.923 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814930 19q13.2 19 41715769G> A null G R 275 275 missense 0.943 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814932 19q13.2 19 41715773C> A null T N 276 276 missense 0.001 benign 0.2 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782594703 19q13.2 19 41715772A> T null T S 276 276 missense 0.005 benign 0.57 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814936 19q13.2 19 41715775T> A null F I 277 277 missense 0.011 benign 0.39 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814939 19q13.2 19 41715777C> A null F L 277 277 missense 0.0 benign 0.66 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782180675 19q13.2 19 41715776T> C null F S 277 277 missense 0.079 benign 0.4 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814941 19q13.2 19 41715778C> T null Q * 278 278 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782438192 19q13.2 19 41715781C> T null Q * 279 279 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814943 19q13.2 19 41715784T> C null S P 280 280 missense 0.145 benign 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814944 19q13.2 19 41715785C> A null S Y 280 280 missense 0.988 probably damaging 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1050523075 19q13.2 19 41715788C> T null T I 281 281 missense 0.881 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs61735258 19q13.2 19 41715791A> G null Q R 282 282 missense 0.475 possibly damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs182078144 19q13.2 19 41715793G> C null E Q 283 283 2.0E-4 missense 0.158 benign 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782375838 19q13.2 19 41715799T> C null F L 285 285 missense 0.007 benign 0.26 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs201961466 19q13.2 19 41715809A> G null N S 288 288 missense 0.028 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782088161 19q13.2 19 41715814A> C null T P 290 290 missense 0.858 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs887900962 19q13.2 19 41715817G> A null V M 291 291 missense 0.865 possibly damaging 0.29 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781788150 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 19q13.2 19 41715821A> G null N S 292 292 missense 0.058 benign 0.23 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781788150 19q13.2 19 41715821A> C null N T 292 292 missense 0.393 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814962 19q13.2 19 41715833C> G null S C 296 296 missense 0.85 possibly damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782156563 19q13.2 19 41715836A> G null Y C 297 297 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782807202 19q13.2 19 41715839C> A null T K 298 298 missense 0.446 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs782807202 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22891273,pubmed:22895193,cosmic_study:452,cosmic_study:457 19q13.2 19 41715839C> T null T M 298 298 missense 0.039 benign 0.06 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs111739385 19q13.2 19 41715848C> T null A V 301 301 0.008986 missense 0.007 benign 0.68 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781818432 19q13.2 19 41715851A> G null H R 302 302 missense 0.306 benign 0.18 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782686634 19q13.2 19 41715860A> C null D A 305 305 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814973 19q13.2 19 41715859G> A null D N 305 305 missense 0.044 benign 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,gnomAD rs370386394 19q13.2 19 41715865G> T null G C 307 307 missense 0.05 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1463289577 19q13.2 19 41715868C> T null L F 308 308 missense 0.982 probably damaging 0.19 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782392674 19q13.2 19 41715871A> G null N D 309 309 missense 0.281 benign 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782651082 19q13.2 19 41715873T> A null N K 309 309 missense 0.373 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782392674 19q13.2 19 41715871A> T null N Y 309 309 missense 0.076 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782224739 19q13.2 19 41715887C> T null T M 314 314 missense 0.614 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs201986383 19q13.2 19 41715890C> T null T M 315 315 2.0E-4 missense 0.725 possibly damaging 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555814987 19q13.2 19 41715901T> C null Y H 319 319 missense 0.381 benign 0.53 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC rs201034775 19q13.2 19 41715902A> C null Y S 319 319 2.0E-4 missense 0.0 benign 0.44 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,TOPMed rs146058300 19q13.2 19 41715904G> T null A S 320 320 missense 0.693 possibly damaging 0.41 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781930149 19q13.2 19 41717463C> G null P A 323 323 missense 0.021 benign 0.32 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781930149 19q13.2 19 41717463C> T null P S 323 323 missense 0.003 benign 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782799284 19q13.2 19 41717469C> T null P S 325 325 missense 0.988 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs570298013 19q13.2 19 41717473T> C null F S 326 326 2.0E-4 missense 0.0 benign 0.92 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75927810 19q13.2 19 41717499G> T null V L 335 335 0.01937 missense 0.001 benign 0.26 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs75927810 cosmic curated [Cosmic]: thyroid cosmic_study:589 19q13.2 19 41717499G> A null V M 335 335 0.01937 missense 0.001 benign 0.07 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1378605912 19q13.2 19 41717507T> G null D E 337 337 missense 0.059 benign 0.65 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815248 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19q13.2 19 41717505G> A null D N 337 337 missense 0.003 benign 0.74 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782448402 19q13.2 19 41717506A> T null D V 337 337 missense 0.233 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1201580988 19q13.2 19 41717510G> C null E D 338 338 missense 0.0 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142727064 19q13.2 19 41717512A> T null D V 339 339 2.0E-4 missense 0.84 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs10407503 19q13.2 19 41717515C> A null A D 340 340 0.04672 missense 0.04 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10407503 19q13.2 19 41717515C> G null A G 340 340 0.04672 missense 0.014 benign 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815252 19q13.2 19 41717517G> A null V I 341 341 missense 0.035 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs139130037 19q13.2 19 41717520G> A null A T 342 342 missense 0.0 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1568706287 19q13.2 19 41717530G> C null C S 345 345 missense 0.969 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1194917049 19q13.2 19 41717550A> G null T A 352 352 missense 0.059 benign 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815255 19q13.2 19 41717553A> C null T P 353 353 missense 0.233 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs928991669 19q13.2 19 41717560T> G null L R 355 355 missense 0.829 possibly damaging 0.58 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782585404 19q13.2 19 41717564G> A null W * 356 356 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815261 19q13.2 19 41717567G> C null W C 357 357 missense 0.373 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782187530 19q13.2 19 41717568G> A null V I 358 358 missense 0.0 benign 0.3 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs372398696 19q13.2 19 41717572A> G null N S 359 359 missense 0.029 benign 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782300892 19q13.2 19 41717574A> G null N D 360 360 missense 0.003 benign 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs534720244 19q13.2 19 41717575A> G null N S 360 360 2.0E-4 missense 0.0 benign 0.18 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1322740937 19q13.2 19 41717577C> A null Q K 361 361 missense 0.0 benign 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815264 19q13.2 19 41717581G> C null S T 362 362 missense 0.255 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782270981 19q13.2 19 41717583C> T null L F 363 363 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs376831302 19q13.2 19 41717587C> T null P L 364 364 missense 0.0 benign 0.47 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782382763 19q13.2 19 41717586C> A null P T 364 364 missense 0.007 benign 0.49 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,gnomAD rs782730168 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:416 19q13.2 19 41717596C> T null P L 367 367 missense 0.005 benign 0.12 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1337664472 19q13.2 19 41717595C> T null P S 367 367 missense 0.0 benign 0.44 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815270 19q13.2 19 41717600G> T null R S 368 368 missense 0.969 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781922382 19q13.2 19 41717602T> C null L P 369 369 missense 0.914 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782165010 19q13.2 19 41717605A> T null Q L 370 370 missense 0.006 benign 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815276 19q13.2 19 41717613A> G null N D 373 373 missense 0.003 benign 0.48 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs553202248 19q13.2 19 41717615T> A null N K 373 373 2.0E-4 missense 0.0 benign 0.75 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782501998 19q13.2 19 41717617A> G null D G 374 374 missense 0.007 benign 0.3 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs199819373 19q13.2 19 41717626C> T null T I 377 377 missense 0.033 benign 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs199819373 cosmic curated [Cosmic]: kidney cosmic_study:416 19q13.2 19 41717626C> A null T N 377 377 missense 0.537 possibly damaging 0.04 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs145041033 19q13.2 19 41717632C> T null T I 379 379 missense 0.988 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815287 19q13.2 19 41717634C> A null L I 380 380 missense 0.003 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149110921 19q13.2 19 41717635T> C null L P 380 380 2.0E-4 missense 0.311 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1555815289 19q13.2 19 41717637C> T null L F 381 381 missense 0.0 benign 0.71 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782534291 19q13.2 19 41717640A> T null S C 382 382 missense 0.132 benign 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782632166 19q13.2 19 41717641G> A null S N 382 382 missense 0.0 benign 0.23 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782351981 19q13.2 19 41717655G> A null D N 387 387 missense 0.982 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed rs146243423 19q13.2 19 41717664C> A null P T 390 390 missense 0.033 benign 0.41 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815303 19q13.2 19 41717668A> G null Y C 391 391 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1180592544 19q13.2 19 41717670G> A null E K 392 392 missense 0.003 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815305 19q13.2 19 41717674G> T null C F 393 393 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1010263102 19q13.2 19 41717682C> A null Q K 396 396 missense 0.157 benign 0.74 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7249230 pubmed:2342461,pubmed:3033671,pubmed:3220478,pubmed:3670312,pubmed:3814146 19q13.2 19 41717688G> A null E K 398 398 0.1028 missense 0.007 benign 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141152395 19q13.2 19 41717695G> T null S I 400 400 2.0E-4 missense 0.983 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1268666698 19q13.2 19 41717697G> A null V I 401 401 missense 0.632 possibly damaging 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1230182712 19q13.2 19 41717706A> G null S G 404 404 missense 0.961 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199938455 19q13.2 19 41717709G> A null D N 405 405 2.0E-4 missense 0.992 probably damaging 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815323 19q13.2 19 41717715G> A null V I 407 407 missense 0.949 probably damaging 0.62 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201856501 19q13.2 19 41717719T> C null I T 408 408 2.0E-4 missense 0.0 benign 0.7 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl,NCI-TCGA rs782016288 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41717722T> G null L R 409 409 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs973143222 19q13.2 19 41717725A> G null N S 410 410 missense 0.979 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs148011427 19q13.2 19 41718139G> C null D H 417 417 missense 0.378 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs148011427 19q13.2 19 41718139G> A null D N 417 417 missense 0.023 benign 0.5 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782474709 19q13.2 19 41718143C> A null P H 418 418 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1223468320 19q13.2 19 41718142C> T null P S 418 418 missense 0.991 probably damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1223468320 19q13.2 19 41718142C> A null P T 418 418 missense 0.994 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1308531464 19q13.2 19 41718145A> G null T A 419 419 missense 0.4 benign 0.66 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782603077 19q13.2 19 41718146C> T null T I 419 419 missense 0.026 benign 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782184553 19q13.2 19 41718148A> G null I V 420 420 missense 0.743 possibly damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150455412 19q13.2 19 41718152C> G null S C 421 421 5.99E-4 missense 0.992 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs150455412 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:24838835,cosmic_study:578 19q13.2 19 41718152C> T null S F 421 421 5.99E-4 missense 0.989 probably damaging 0.08 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150455412 19q13.2 19 41718152C> A null S Y 421 421 5.99E-4 missense 0.989 probably damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782276798 19q13.2 19 41718154C> T null P S 422 422 missense 0.991 probably damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781969946 19q13.2 19 41718162C> G null Y * 424 424 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815392 19q13.2 19 41718167A> G null Y C 426 426 missense 0.895 possibly damaging 0.14 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782322278 19q13.2 19 41718170A> G null Y C 427 427 missense 0.995 probably damaging 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368617829 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41718172C> T null R C 428 428 missense 0.881 possibly damaging 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371542733 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.2 19 41718173G> A null R H 428 428 missense 0.012 benign 0.61 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs782431372 19q13.2 19 41718181G> A null V M 431 431 missense 0.773 possibly damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815400 19q13.2 19 41718184A> G null N D 432 432 missense 0.4 benign 0.36 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782799653 19q13.2 19 41718188T> C null L P 433 433 missense 0.994 probably damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782113990 19q13.2 19 41718197C> A null S Y 436 436 missense 0.989 probably damaging 0.19 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs868995827 19q13.2 19 41718203A> G null H R 438 438 missense 0.948 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782677397 19q13.2 19 41718215A> G null N S 442 442 missense 0.969 probably damaging 0.25 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815411 19q13.2 19 41718224C> T null A V 445 445 missense 0.98 probably damaging 0.49 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782459879 19q13.2 19 41718226C> G null Q E 446 446 missense 0.83 possibly damaging 0.6 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815416 19q13.2 19 41718235T> G null W G 449 449 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815420 19q13.2 19 41718243T> G null I M 451 451 missense 0.906 possibly damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs112998286 19q13.2 19 41718242T> A null I N 451 451 missense 0.906 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815422 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41718244G> A null D N 452 452 missense 0.059 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1417465245 19q13.2 19 41718247G> A null G R 453 453 missense 0.999 probably damaging 0.37 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1407503956 19q13.2 19 41718254T> A null I N 455 455 missense 0.26 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815427 19q13.2 19 41718253A> G null I V 455 455 missense 0.006 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs557404221 19q13.2 19 41718257A> G null Q R 456 456 2.0E-4 missense 0.922 probably damaging 0.19 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815429 19q13.2 19 41718262C> T null H Y 458 458 missense 0.495 possibly damaging 0.72 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1446779145 19q13.2 19 41718268C> T null Q * 460 460 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1241705361 19q13.2 19 41718281T> C null I T 464 464 missense 0.423 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs140159293 cosmic curated [Cosmic]: skin pubmed:21499247,cosmic_study:348 19q13.2 19 41718287A> G null N S 466 466 missense 0.969 probably damaging 0.05 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs983229008 19q13.2 19 41718291C> G null I M 467 467 missense 0.977 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782648704 19q13.2 19 41718293C> T null T I 468 468 missense 0.991 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815446 19q13.2 19 41718302A> G null N S 471 471 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376701458 cosmic curated [Cosmic]: endometrium, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413,cosmic_study:419 19q13.2 19 41718307G> A null G R 473 473 missense 0.046 benign 0.02 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815452 19q13.2 19 41718317C> T null T I 476 476 missense 0.494 possibly damaging 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782176320 19q13.2 19 41718316A> C null T P 476 476 missense 0.899 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782441524 19q13.2 19 41718322C> G null Q E 478 478 missense 0.023 benign 0.58 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815456 19q13.2 19 41718338C> G null A G 483 483 missense 0.632 possibly damaging 0.41 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs373389663 19q13.2 19 41718340A> G null S G 484 484 0.003594 missense 0.325 benign 0.35 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs979767715 19q13.2 19 41718344G> A null G D 485 485 missense 0.998 probably damaging 0.47 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815466 19q13.2 19 41718352A> G null R G 488 488 missense 0.962 probably damaging 0.25 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782380671 19q13.2 19 41718355A> C null T P 489 489 missense 0.827 possibly damaging 0.28 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs781968228 19q13.2 19 41718358A> G null T A 490 490 missense 0.003 benign 0.35 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs200943930 19q13.2 19 41718365A> G null K R 492 492 missense 0.448 possibly damaging 0.58 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815480 19q13.2 19 41718377T> C null V A 496 496 missense 0.954 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815478 19q13.2 19 41718376G> C null V L 496 496 missense 0.927 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,gnomAD rs782676085 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41719930C> T null A V 498 498 missense 0.851 possibly damaging 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1261248063 19q13.2 19 41719938C> G null P A 501 501 missense 0.991 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1568708513 19q13.2 19 41719945C> T null P L 503 503 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815794 19q13.2 19 41719951T> C null I T 505 505 missense 0.964 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782383551 19q13.2 19 41719950A> G null I V 505 505 missense 0.811 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782639484 19q13.2 19 41719953T> G null S A 506 506 missense 0.05 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782222362 19q13.2 19 41719956A> T null S C 507 507 missense 0.994 probably damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782328991 19q13.2 19 41719957G> T null S I 507 507 missense 0.988 probably damaging 0.09 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782328991 19q13.2 19 41719957G> C null S T 507 507 missense 0.961 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs149101572 19q13.2 19 41719960A> G null N S 508 508 2.0E-4 missense 0.006 benign 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782297920 19q13.2 19 41719963A> T null N I 509 509 missense 0.994 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs888611670 19q13.2 19 41719970A> C null K N 511 511 missense 0.0 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1490598601 19q13.2 19 41719971C> T null P S 512 512 missense 0.991 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs138295038 19q13.2 19 41719974G> C null V L 513 513 missense 0.036 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs138295038 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19q13.2 19 41719974G> A null V M 513 513 missense 0.446 possibly damaging 0.22 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs201069007 19q13.2 19 41719985G> T null K N 516 516 2.0E-4 missense 0.503 possibly damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815816 19q13.2 19 41719988T> G null D E 517 517 missense 0.98 probably damaging 0.14 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149636403 19q13.2 19 41719987A> T null D V 517 517 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782698894 19q13.2 19 41719992G> A null V M 519 519 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781898276 19q13.2 19 41719996C> A null A D 520 520 missense 0.487 possibly damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781851553 19q13.2 19 41720002C> T null T I 522 522 missense 0.899 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782778786 19q13.2 19 41720001A> C null T P 522 522 missense 0.899 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1277130898 19q13.2 19 41720008A> G null E G 524 524 missense 0.979 probably damaging 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782495250 19q13.2 19 41720007G> C null E Q 524 524 missense 0.979 probably damaging 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815828 19q13.2 19 41720011C> T null P L 525 525 missense 0.994 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782578740 19q13.2 19 41720010C> T null P S 525 525 missense 0.991 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815831 19q13.2 19 41720016G> A null A T 527 527 missense 0.037 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1405197095 19q13.2 19 41720017C> T null A V 527 527 missense 0.0 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782181374 19q13.2 19 41720022A> G null N D 529 529 missense 0.0 benign 0.79 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815835 19q13.2 19 41720028A> G null T A 531 531 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1351339974 19q13.2 19 41720029C> A null T N 531 531 missense 0.985 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs550694828 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 19q13.2 19 41720038G> A null W * 534 534 2.0E-4 missense 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1321339324 19q13.2 19 41720039G> C null W C 534 534 missense 0.993 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs562531881 19q13.2 19 41720042G> A null W * 535 535 9.98E-4 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1404598532 19q13.2 19 41720040T> C null W R 535 535 missense 0.991 probably damaging 0.93 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781970198 19q13.2 19 41720043G> A null V I 536 536 missense 0.927 probably damaging 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815844 19q13.2 19 41720046A> G null N D 537 537 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782320520 19q13.2 19 41720049G> T null G C 538 538 missense 0.873 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs533199278 19q13.2 19 41720050G> A null G D 538 538 2.0E-4 missense 0.342 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782320520 19q13.2 19 41720049G> A null G S 538 538 missense 0.271 benign 0.46 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815850 19q13.2 19 41720059T> C null L P 541 541 missense 0.757 possibly damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1478476269 19q13.2 19 41720068G> A null S N 544 544 missense 0.961 probably damaging 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1219795676 19q13.2 19 41720075G> C null R S 546 546 missense 0.974 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1248734203 19q13.2 19 41720074G> C null R T 546 546 missense 0.974 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782003033 19q13.2 19 41720081G> T null Q H 548 548 missense 0.444 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815855 19q13.2 19 41720083T> C null L P 549 549 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs201362268 19q13.2 19 41720088A> G null N D 551 551 missense 0.496 possibly damaging 0.62 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781818940 19q13.2 19 41720089A> G null N S 551 551 missense 0.068 benign 0.73 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs958579590 19q13.2 19 41720095A> G null N S 553 553 missense 0.979 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs991356609 19q13.2 19 41720098G> A null R K 554 554 missense 0.268 benign 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815871 19q13.2 19 41720109C> G null L V 558 558 missense 0.805 possibly damaging 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs552514245 19q13.2 19 41720116A> G null N S 560 560 missense 0.007 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782530350 19q13.2 19 41720119T> A null V D 561 561 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138799075 19q13.2 19 41720133G> C null A P 566 566 2.0E-4 missense 0.619 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs138799075 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 19q13.2 19 41720133G> A null A T 566 566 2.0E-4 missense 0.003 benign 1.0 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815881 19q13.2 19 41720134C> T null A V 566 566 missense 0.03 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs375804916 19q13.2 19 41720144T> G null Y * 569 569 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815886 19q13.2 19 41720146T> C null V A 570 570 missense 0.005 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815887 19q13.2 19 41720152G> A null G E 572 572 missense 0.006 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs924326217 19q13.2 19 41720162C> G null N K 575 575 missense 0.99 probably damaging 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1336148911 19q13.2 19 41720161A> C null N T 575 575 missense 0.805 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815895 19q13.2 19 41720172G> A null A T 579 579 missense 0.613 possibly damaging 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1333217164 19q13.2 19 41720173C> T null A V 579 579 missense 0.358 benign 0.29 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141974793 19q13.2 19 41720178C> T null R C 581 581 3.99E-4 missense 0.042 benign 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141974793 19q13.2 19 41720178C> G null R G 581 581 3.99E-4 missense 0.459 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146319665 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 19q13.2 19 41720179G> A null R H 581 581 missense 0.01 benign 0.33 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815902 19q13.2 19 41720191T> C null V A 585 585 missense 0.989 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782374981 19q13.2 19 41720190G> A null V I 585 585 missense 0.859 possibly damaging 0.13 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs868915781 19q13.2 19 41720194C> T null T I 586 586 missense 0.087 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555815906 19q13.2 19 41720197T> A null L Q 587 587 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61735249 19q13.2 19 41720199G> A null D N 588 588 0.00619 missense 0.001 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1401476611 19q13.2 19 41720925G> A null G E 592 592 missense 0.96 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1278360655 19q13.2 19 41720924G> A null G R 592 592 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1401476611 19q13.2 19 41720925G> T null G V 592 592 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782226981 19q13.2 19 41720928C> T null P L 593 593 missense 1.0 probably damaging 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1568709454 19q13.2 19 41720927C> T null P S 593 593 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816074 19q13.2 19 41720934C> A null T N 595 595 missense 0.314 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782583270 19q13.2 19 41720936C> G null P A 596 596 missense 0.99 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75582708 19q13.2 19 41720944T> G null I M 598 598 0.007388 missense 0.997 probably damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782299888 19q13.2 19 41720943T> C null I T 598 598 missense 0.995 probably damaging 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816089 19q13.2 19 41720949C> T null P L 600 600 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs373325856 19q13.2 19 41720951C> G null P A 601 601 missense 0.104 benign 0.5 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs556201612 19q13.2 19 41720952C> T null P L 601 601 2.0E-4 missense 0.044 benign 0.16 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs556201612 19q13.2 19 41720952C> A null P Q 601 601 2.0E-4 missense 0.685 possibly damaging 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs556201612 19q13.2 19 41720952C> G null P R 601 601 2.0E-4 missense 0.614 possibly damaging 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs373325856 19q13.2 19 41720951C> A null P T 601 601 missense 0.242 benign 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1192896058 19q13.2 19 41720955A> T null D V 602 602 missense 0.231 benign 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs371859092 19q13.2 19 41720957T> G null S A 603 603 missense 0.003 benign 0.27 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,gnomAD rs781903049 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19q13.2 19 41720958C> T null S L 603 603 missense 0.031 benign 0.21 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs371859092 19q13.2 19 41720957T> C null S P 603 603 missense 0.466 possibly damaging 0.1 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816107 19q13.2 19 41720961C> T null S F 604 604 missense 0.328 benign 0.3 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816110 19q13.2 19 41720966C> A null L I 606 606 missense 0.26 benign 0.37 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781854363 19q13.2 19 41720967T> C null L P 606 606 missense 0.031 benign 0.29 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs782478629 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney pubmed:22622578,cosmic_study:388,cosmic_study:416 19q13.2 19 41720970C> T null S L 607 607 missense 0.031 benign 0.4 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200399646 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary cosmic_study:585 19q13.2 19 41720976C> T null A V 609 609 2.0E-4 missense 0.07 benign 0.11 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782670029 19q13.2 19 41720979A> C null N T 610 610 missense 1.0 probably damaging 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs75165133 19q13.2 19 41720985A> C null N T 612 612 missense 0.072 benign 0.31 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816119 19q13.2 19 41720984A> T null N Y 612 612 missense 0.104 benign 0.37 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs545208884 19q13.2 19 41720988T> C null L P 613 613 0.06949 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782326336 19q13.2 19 41720991C> T null S F 614 614 missense 0.435 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,gnomAD rs201761909 19q13.2 19 41720990T> C null S P 614 614 0.06949 missense 0.996 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782290971 19q13.2 19 41720997A> C null H P 616 616 missense 0.934 probably damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781924468 19q13.2 19 41720996C> T null H Y 616 616 missense 0.195 benign 0.25 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782401497 cosmic curated [Cosmic]: central_nervous_system pubmed:23592488,cosmic_study:472 19q13.2 19 41721000C> T null S L 617 617 missense 0.085 benign 0.02 deleterious 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816140 19q13.2 19 41721003C> T null A V 618 618 missense 0.941 probably damaging 0.5 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1436868362 19q13.2 19 41721011C> G null P A 621 621 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816144 19q13.2 19 41721015C> T null S F 622 622 missense 0.552 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782110730 19q13.2 19 41721018C> T null P L 623 623 missense 0.184 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1321427697 19q13.2 19 41721020C> T null Q * 624 624 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782063496 19q13.2 19 41721022G> C null Q H 624 624 missense 0.75 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781890364 19q13.2 19 41721023T> C null Y H 625 625 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs74946020 19q13.2 19 41721030G> A null W * 627 627 2.0E-4 stop gained 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs201571774 19q13.2 19 41721032C> T null R C 628 628 missense 0.745 possibly damaging 0.03 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,ExAC,TOPMed,gnomAD rs147855837 19q13.2 19 41721033G> A null R H 628 628 missense 0.567 possibly damaging 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1171440835 19q13.2 19 41721039A> G null N S 630 630 missense 0.412 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1171440835 19q13.2 19 41721039A> C null N T 630 630 missense 0.895 possibly damaging 0.05 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1467294934 19q13.2 19 41721042G> A null G E 631 631 missense 0.957 probably damaging 0.17 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782601271 19q13.2 19 41721044A> T null I L 632 632 missense 0.031 benign 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC rs782182729 19q13.2 19 41721047C> G null P A 633 633 missense 0.051 benign 0.51 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782558080 cosmic curated [Cosmic]: ovary pubmed:22102435,cosmic_study:397 19q13.2 19 41721048C> T null P L 633 633 missense 0.003 benign 0.67 tolerated 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ESP,TOPMed rs141086263 19q13.2 19 41721053C> G null Q E 635 635 missense 0.831 possibly damaging 0.24 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782260134 19q13.2 19 41721059A> G null T A 637 637 missense 0.358 benign 0.15 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816160 19q13.2 19 41721074A> G null I V 642 642 missense 0.951 probably damaging 0.07 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782212015 19q13.2 19 41721077G> A null A T 643 643 missense 0.342 benign 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs1040798227 19q13.2 19 41721084T> C null I T 645 645 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs550022667 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.2 19 41721087C> T null T M 646 646 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816164 19q13.2 19 41721090C> G null P R 647 647 missense 0.156 benign 0.39 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ExAC,TOPMed,gnomAD rs565105444 19q13.2 19 41721100C> G null N K 650 650 2.0E-4 missense 0.373 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs998112305 19q13.2 19 41721101G> A null G R 651 651 missense 0.993 probably damaging 0.06 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs889619169 19q13.2 19 41721104A> T null T S 652 652 missense 0.001 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782793773 19q13.2 19 41721108A> G null Y C 653 653 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1439950686 19q13.2 19 41721111C> G null A G 654 654 missense 0.024 benign 0.05 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816170 19q13.2 19 41721110G> A null A T 654 654 missense 0.02 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782735814 19q13.2 19 41721123C> G null S C 658 658 missense 0.732 possibly damaging 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs1555816179 19q13.2 19 41721135C> A null T N 662 662 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10423171 19q13.2 19 41721140C> T null R C 664 664 0.04872 missense 0.029 benign 0.11 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782505424 19q13.2 19 41721141G> A null R H 664 664 missense 0.01 benign 0.34 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs10423171 19q13.2 19 41721140C> A null R S 664 664 0.04872 missense 0.433 benign 0.27 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781837493 19q13.2 19 41721147A> T null N I 666 666 missense 0.427 benign 0.01 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs781837493 19q13.2 19 41721147A> G null N S 666 666 missense 0.007 benign 0.21 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782174541 19q13.2 19 41721154A> G null I M 668 668 missense 0.75 possibly damaging 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138328698 19q13.2 19 41721153T> C null I T 668 668 3.99E-4 missense 0.001 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed rs1427607489 19q13.2 19 41721160G> C null K N 670 670 missense 0.405 benign 0.02 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1172128197 19q13.2 19 41721162G> A null S N 671 671 missense 0.007 benign 0.81 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782432182 19q13.2 19 41721163C> G null S R 671 671 missense 0.156 benign 0.43 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782643301 19q13.2 19 41721174C> T null S F 675 675 missense 0.479 possibly damaging 0.71 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs868942347 19q13.2 19 41721176G> A null A T 676 676 missense 0.131 benign 0.33 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs9621 19q13.2 19 41727239G> A null G R 678 678 0.008586 missense 0.923 probably damaging 0.57 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,NCI-TCGA,gnomAD rs781873106 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41727248C> T null P S 681 681 missense 0.122 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1441607923 19q13.2 19 41727252G> A null G D 682 682 missense 0.015 benign 0.18 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 TOPMed,gnomAD rs1441607923 19q13.2 19 41727252G> T null G V 682 682 missense 0.001 benign 0.51 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs961497729 19q13.2 19 41727260G> A null A T 685 685 missense 0.237 benign 0.08 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782629273 19q13.2 19 41727267C> A null A D 687 687 missense 0.352 benign 0.19 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782629273 19q13.2 19 41727267C> G null A G 687 687 missense 0.352 benign 0.12 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs782497345 19q13.2 19 41727266G> A null A T 687 687 missense 0.021 benign 1.0 tolerated 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,TOPMed,gnomAD rs201356826 19q13.2 19 41727273T> A null V D 689 689 missense 0.07 benign 0.0 deleterious 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368131026 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41727275G> A null G S 690 690 2.0E-4 missense 0.065 benign 0.54 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 gnomAD rs782506776 19q13.2 19 41727279T> C null I T 691 691 missense 0.693 possibly damaging 0.03 deleterious - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782575375 19q13.2 19 41727281A> G null M V 692 692 missense 0.007 benign 0.94 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 Ensembl rs868972759 19q13.2 19 41727284A> C null I L 693 693 missense 0.07 benign 0.14 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782305548 19q13.2 19 41727285T> C null I T 693 693 missense 0.054 benign 0.07 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782412306 cosmic curated [Cosmic]: urinary_tract pubmed:22923433,cosmic_study:490 19q13.2 19 41727287G> A null G R 694 694 missense 0.962 probably damaging 0.13 tolerated - low confidence 1 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782107321 19q13.2 19 41727296G> T null V F 697 697 missense 0.123 benign 0.06 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs782107321 19q13.2 19 41727296G> A null V I 697 697 missense 0.037 benign 0.62 tolerated - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs202005812 19q13.2 19 41727302G> T null V F 699 699 missense 0.969 probably damaging 0.01 deleterious - low confidence 0 A0A024R0K5 CEACAM5 Carcinoembryonic antigen-related cell adhesion molecule 5 ExAC,gnomAD rs202005812 19q13.2 19 41727302G> A null V I 699 699 missense 0.178 benign 0.07 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs531145748 17q12 17 37411372C> T null R C 3 3 2.0E-4 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs374991405 17q12 17 37411373G> A null R H 3 3 missense 0.011 benign 0.1 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs374991405 17q12 17 37411373G> T null R L 3 3 missense 0.214 benign 0.01 deleterious - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs757277731 17q12 17 37411379G> T null G V 5 5 missense 0.003 benign 0.35 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7211875 17q12 17 37411381T> C null S P 6 6 0.1452 missense 0.007 benign 0.28 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1426998075 17q12 17 37411386T> G null F L 7 7 missense 0.034 benign 0.1 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1386674507 17q12 17 37411388G> A null S N 8 8 missense 0.001 benign 0.5 tolerated - low confidence 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs777684288 17q12 17 37423510T> A null N K 9 9 missense 0.169 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1268855242 17q12 17 37423509A> G null N S 9 9 missense 0.003 benign 0.64 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568137334 17q12 17 37423511G> A null D N 10 10 missense 0.614 possibly damaging 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs746853187 17q12 17 37423515C> G null P R 11 11 missense 0.915 probably damaging 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1340691801 17q12 17 37423518C> T null S F 12 12 missense 0.0 benign 0.14 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs769361999 17q12 17 37423523A> G null K E 14 14 missense 0.328 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1165196770 17q12 17 37423524A> C null K T 14 14 missense 0.804 possibly damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1450036651 17q12 17 37423527C> T null P L 15 15 missense 0.108 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1391218354 17q12 17 37423529C> T null P S 16 16 missense 0.17 benign 0.25 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs143836210 17q12 17 37423535C> T null R * 18 18 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs143836210 17q12 17 37423535C> G null R G 18 18 missense 0.222 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs200118946 17q12 17 37423536G> A null R Q 18 18 3.99E-4 missense 0.066 benign 0.31 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767717382 17q12 17 37423545C> G null S C 21 21 missense 0.973 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1164751689 17q12 17 37423548C> T null S F 22 22 missense 0.144 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1405764961 17q12 17 37423547T> A null S T 22 22 missense 0.031 benign 0.61 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs760610332 17q12 17 37423551A> G null Y C 23 23 missense 0.936 probably damaging 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1356095701 17q12 17 37423557T> A null M K 25 25 missense 0.003 benign 0.27 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs561407972 17q12 17 37423556A> T null M L 25 25 2.0E-4 missense 0.003 benign 0.32 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs561407972 17q12 17 37423556A> G null M V 25 25 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1208495585 17q12 17 37423563C> T null P L 27 27 missense 0.614 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1208495585 17q12 17 37423563C> G null P R 27 27 missense 0.708 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1264808996 17q12 17 37423566A> T null Y F 28 28 missense 0.132 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1181906545 17q12 17 37423568A> G null I V 29 29 missense 0.139 benign 0.26 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs751397194 17q12 17 37423587G> A null G E 35 35 missense 0.138 benign 0.19 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs757122720 17q12 17 37423590C> T null P L 36 36 missense 0.897 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs980691501 17q12 17 37423602T> G null F C 40 40 missense 0.0 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs980691501 17q12 17 37423602T> C null F S 40 40 missense 0.0 benign 0.42 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs777071633 17q12 17 37423613C> T null Q * 44 44 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs777071633 17q12 17 37423613C> A null Q K 44 44 missense 0.033 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs909164484 17q12 17 37426954T> G null F C 46 46 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs941854665 17q12 17 37426955C> A null F L 46 46 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,NCI-TCGA,TOPMed,gnomAD rs759757775 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q12 17 37426959C> T null R * 48 48 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs759757775 17q12 17 37426959C> G null R G 48 48 missense 0.023 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs751557109 17q12 17 37426960G> A null R Q 48 48 missense 0.04 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1474977822 17q12 17 37426968G> A null E K 51 51 missense 0.99 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1394834928 17q12 17 37426974A> G null K E 53 53 missense 0.022 benign 0.81 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs755769498 17q12 17 37426987G> A null S N 57 57 missense 0.005 benign 0.8 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs750222887 17q12 17 37426986A> C null S R 57 57 missense 0.142 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1202611869 17q12 17 37426991T> A null D E 58 58 missense 0.115 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs748823884 17q12 17 37426989G> A null D N 58 58 missense 0.009 benign 0.79 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs748823884 17q12 17 37426989G> T null D Y 58 58 missense 0.885 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs374099682 17q12 17 37426993A> G null H R 59 59 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs748673452 17q12 17 37426995A> G null T A 60 60 missense 0.001 benign 0.79 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568141759 17q12 17 37426996C> G null T S 60 60 missense 0.001 benign 0.93 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1198672460 17q12 17 37427009G> A null M I 64 64 missense 0.003 benign 0.83 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568152478 17q12 17 37437738A> G null T A 65 65 missense 0.561 possibly damaging 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs755925823 17q12 17 37437742C> T null S L 66 66 missense 0.001 benign 0.22 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1419671531 17q12 17 37437745A> G null D G 67 67 missense 0.036 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed rs141037954 17q12 17 37437744G> C null D H 67 67 2.0E-4 missense 0.295 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed rs141037954 17q12 17 37437744G> A null D N 67 67 2.0E-4 missense 0.022 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs147950347 17q12 17 37437763C> T null P L 73 73 missense 0.06 benign 0.37 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs753498929 17q12 17 37437765A> C null S R 74 74 missense 0.012 benign 0.41 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1189869589 17q12 17 37437769G> A null W * 75 75 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs754433137 17q12 17 37437768T> C null W R 75 75 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1438098357 17q12 17 37437771A> G null T A 76 76 missense 0.358 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568152576 17q12 17 37437772C> T null T I 76 76 missense 0.747 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs369092308 17q12 17 37437787T> G null M R 81 81 missense 0.526 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs929963414 17q12 17 37437786A> G null M V 81 81 missense 0.031 benign 0.4 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs758897797 17q12 17 37437789G> A null A T 82 82 missense 0.005 benign 0.41 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1466606998 17q12 17 37437798G> A null E K 85 85 missense 0.749 possibly damaging 0.19 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs545436243 17q12 17 37437811A> G null D G 89 89 2.0E-4 missense 0.43 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs771214399 17q12 17 37437813T> C null C R 90 90 missense 0.43 benign 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs888361627 17q12 17 37437829G> A null W * 95 95 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1376649458 17q12 17 37440513T> C null V A 98 98 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs770126092 17q12 17 37440512G> C null V L 98 98 missense 0.918 probably damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs780489911 17q12 17 37440516C> G null A G 99 99 missense 0.845 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs148703392 17q12 17 37440519A> G null N S 100 100 2.0E-4 missense 0.003 benign 0.61 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1464644057 17q12 17 37440522A> G null Q R 101 101 missense 0.025 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs773149366 17q12 17 37440526G> T null M I 102 102 missense 0.011 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs760559082 17q12 17 37440530A> G null T A 104 104 missense 0.382 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs760559082 17q12 17 37440530A> T null T S 104 104 missense 0.3 benign 0.21 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1279076701 17q12 17 37440539A> G null K E 107 107 missense 0.614 possibly damaging 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs962355419 17q12 17 37440540A> G null K R 107 107 missense 0.346 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs147234139 17q12 17 37440543A> T null E V 108 108 missense 0.079 benign 0.28 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1054865 17q12 17 37440563A> G null M V 115 115 missense 0.176 benign 0.27 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1236030137 17q12 17 37440567A> G null K R 116 116 missense 0.049 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs17849432 17q12 17 37440569C> T null H Y 117 117 missense 0.001 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1194930466 17q12 17 37440578A> G null N D 120 120 missense 0.007 benign 0.31 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs762476985 17q12 17 37440579A> G null N S 120 120 missense 0.015 benign 0.39 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1194930466 17q12 17 37440578A> T null N Y 120 120 missense 0.015 benign 0.85 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs763545857 17q12 17 37440581A> C null N H 121 121 missense 0.078 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs757681201 17q12 17 37440584C> T null P S 122 122 missense 0.511 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs750812372 17q12 17 37440587C> G null L V 123 123 missense 0.015 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1298635693 17q12 17 37440599A> G null T A 127 127 missense 0.015 benign 0.22 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs756551066 17q12 17 37440606T> C null L P 129 129 missense 0.234 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs756551066 17q12 17 37440606T> A null L Q 129 129 missense 0.642 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749490492 17q12 17 37440614A> C null K Q 132 132 missense 0.091 benign 0.3 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1263454482 17q12 17 37440615A> G null K R 132 132 missense 0.003 benign 0.61 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs768738677 17q12 17 37440623G> A null E K 135 135 missense 0.091 benign 0.25 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1218781306 17q12 17 37440626G> A null E K 136 136 missense 0.027 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs748319407 17q12 17 37440638G> T null A S 140 140 missense 0.0 benign 0.4 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs748319407 17q12 17 37440638G> A null A T 140 140 missense 0.001 benign 0.4 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs78395792 17q12 17 37440644A> C null T P 142 142 missense 0.014 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs776558332 17q12 17 37440647G> A null A T 143 143 missense 0.038 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34408045 17q12 17 37440653C> T null P S 145 145 0.001997 missense 0.026 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1478063083 17q12 17 37440660A> G null H R 147 147 missense 0.0 benign 0.46 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs779265621 17q12 17 37442566A> G null T A 149 149 missense 0.0 benign 0.31 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs972398099 17q12 17 37442567C> T null T I 149 149 missense 0.015 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1403132471 17q12 17 37442570A> T null D V 150 150 missense 0.023 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568158593 17q12 17 37442576C> G null P R 152 152 missense 0.971 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs781059297 17q12 17 37442581C> T null R * 154 154 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs985453152 17q12 17 37442582G> A null R Q 154 154 missense 0.355 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1388247289 17q12 17 37442585C> G null P R 155 155 missense 0.876 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs775126931 17q12 17 37442596T> G null S A 159 159 missense 0.395 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs749164183 17q12 17 37442597C> G null S C 159 159 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1247415777 17q12 17 37442602C> T null L F 161 161 missense 0.48 possibly damaging 0.05 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1247415777 17q12 17 37442602C> G null L V 161 161 missense 0.013 benign 0.49 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs774056248 17q12 17 37442609G> A null R Q 163 163 missense 0.01 benign 0.59 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs768187507 17q12 17 37442608C> T null R W 163 163 missense 0.663 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767153736 17q12 17 37442612A> C null D A 164 164 missense 0.197 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767153736 17q12 17 37442612A> G null D G 164 164 missense 0.255 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs761169873 17q12 17 37442611G> T null D Y 164 164 missense 0.029 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1458705782 17q12 17 37442614A> C null M L 165 165 missense 0.023 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs767039292 17q12 17 37442620G> A null G R 167 167 missense 0.963 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1283050287 17q12 17 37442628G> T null M I 169 169 missense 0.167 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs754152102 17q12 17 37442626A> G null M V 169 169 missense 0.059 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1040429867 17q12 17 37442635C> T null R * 172 172 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs374860776 17q12 17 37442636G> A null R Q 172 172 missense 0.988 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs765322399 17q12 17 37442648T> C null I T 176 176 missense 0.003 benign 0.7 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs377490313 17q12 17 37442652G> C null E D 177 177 missense 0.014 benign 0.22 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs760331528 17q12 17 37444696G> A null E K 178 178 missense 0.691 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1038300227 17q12 17 37444703A> G null D G 180 180 missense 0.959 probably damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs771278100 17q12 17 37444706A> G null N S 181 181 missense 0.954 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs375889975 17q12 17 37444708T> C null Y H 182 182 missense 0.136 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1413288465 17q12 17 37444711G> A null A T 183 183 missense 0.954 probably damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs367698801 17q12 17 37444712C> T null A V 183 183 missense 0.527 possibly damaging 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1458840100 17q12 17 37444717T> C null W R 185 185 missense 0.53 possibly damaging 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs753043534 17q12 17 37444722C> G null D E 186 186 missense 0.316 benign 0.2 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1423139282 17q12 17 37444721A> T null D V 186 186 missense 0.439 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1200288414 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37444720G> T null D Y 186 186 missense 0.616 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1477000755 17q12 17 37444725G> T null L F 187 187 missense 0.99 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs764359936 17q12 17 37444749T> G null D E 195 195 missense 0.076 benign 0.5 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs529523943 17q12 17 37444754C> T null S L 197 197 missense 0.179 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs753835969 17q12 17 37444757A> G null D G 198 198 missense 0.34 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs779797259 17q12 17 37444756G> T null D Y 198 198 missense 0.136 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,gnomAD rs142136696 17q12 17 37444766A> T null H L 201 201 missense 0.001 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,gnomAD rs142136696 17q12 17 37444766A> G null H R 201 201 missense 0.0 benign 0.84 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs745430985 17q12 17 37458524C> T null A V 202 202 missense 0.255 benign 0.19 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1253060759 17q12 17 37458533T> C null M T 205 205 missense 0.009 benign 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs770332199 17q12 17 37458535G> A null A T 206 206 missense 0.202 benign 0.33 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs775978650 17q12 17 37458541G> A null V I 208 208 missense 0.23 benign 0.05 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1377608754 17q12 17 37458545A> G null D G 209 209 missense 0.209 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749593690 17q12 17 37458548T> A null I N 210 210 missense 0.917 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs749593690 17q12 17 37458548T> C null I T 210 210 missense 0.702 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1262636076 17q12 17 37458563T> C null L S 215 215 missense 0.971 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1487397604 17q12 17 37458570G> C null E D 217 217 missense 0.169 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs960786246 17q12 17 37458574C> G null Q E 219 219 missense 0.003 benign 0.29 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs769028253 17q12 17 37458576A> C null Q H 219 219 missense 0.013 benign 0.54 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs960786246 17q12 17 37458574C> A null Q K 219 219 missense 0.005 benign 0.3 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,TOPMed,gnomAD rs367602386 17q12 17 37458581G> A null R Q 221 221 missense 0.92 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs755590586 17q12 17 37462081T> G null I M 224 224 missense 0.543 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150744923 17q12 17 37462082A> C null I L 225 225 9.98E-4 missense 0.015 benign 0.07 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs948827615 17q12 17 37462083T> C null I T 225 225 missense 0.154 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150744923 17q12 17 37462082A> G null I V 225 225 9.98E-4 missense 0.003 benign 0.31 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1333012318 17q12 17 37462090C> A null D E 227 227 missense 0.003 benign 0.26 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs928700220 17q12 17 37462088G> A null D N 227 227 missense 0.012 benign 0.22 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs928700220 17q12 17 37462088G> T null D Y 227 227 missense 0.689 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1045907641 17q12 17 37462092A> T null H L 228 228 missense 0.111 benign 0.2 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs749821727 17q12 17 37462091C> T null H Y 228 228 missense 0.017 benign 0.75 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs907253924 17q12 17 37462106C> A null L I 233 233 missense 0.07 benign 0.35 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs774675965 17q12 17 37462109A> T null R * 234 234 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs573981711 17q12 17 37462110G> C null R T 234 234 2.0E-4 missense 0.661 possibly damaging 0.08 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1163650883 17q12 17 37462114G> C null K N 235 235 missense 0.477 possibly damaging 0.2 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed rs371661972 17q12 17 37462121T> A null L I 238 238 missense 0.001 benign 0.52 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs184173195 17q12 17 37465434T> C null M T 239 239 2.0E-4 missense 0.003 benign 0.4 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs778017944 17q12 17 37465440G> A null R Q 241 241 missense 0.468 possibly damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs972824162 17q12 17 37465439C> T null R W 241 241 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs376421675 17q12 17 37465443G> A null R Q 242 242 missense 0.26 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs747169374 17q12 17 37465442C> T null R W 242 242 missense 0.977 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1208030542 17q12 17 37465448C> T null P S 244 244 missense 0.006 benign 0.37 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1361482732 17q12 17 37465452A> G null K R 245 245 missense 0.003 benign 0.33 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs201607716 17q12 17 37465461A> G null Q R 248 248 2.0E-4 missense 0.0 benign 0.73 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs768651633 17q12 17 37465469T> C null Y H 251 251 missense 0.007 benign 0.36 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,NCI-TCGA,TOPMed,gnomAD rs774171350 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37465478A> G null M V 254 254 missense 0.013 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs761618764 17q12 17 37465484C> T null R * 256 256 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs985432564 17q12 17 37465489T> A null F L 257 257 missense 0.789 possibly damaging 0.14 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs750269130 17q12 17 37465503G> A null G E 262 262 missense 0.022 benign 0.18 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs911129443 17q12 17 37465515A> T null H L 266 266 missense 0.041 benign 0.45 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs911129443 17q12 17 37465515A> G null H R 266 266 missense 0.381 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs965304287 17q12 17 37465519C> A null D E 267 267 missense 0.182 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs753341302 17q12 17 37465517G> A null D N 267 267 missense 0.582 possibly damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs754488351 17q12 17 37465520A> C null K Q 268 268 missense 0.149 benign 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs143994775 17q12 17 37465521A> G null K R 268 268 missense 0.013 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1307892133 17q12 17 37465528T> G null I M 270 270 missense 0.059 benign 0.16 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs753176409 17q12 17 37465527T> C null I T 270 270 missense 0.033 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs188630265 17q12 17 37465538G> A null A T 274 274 2.0E-4 missense 0.014 benign 0.71 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs773206191 17q12 17 37467468C> T null R * 280 280 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,NCI-TCGA,gnomAD rs746746027 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37467469G> A null R Q 280 280 missense 0.291 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1300801420 17q12 17 37467481A> G null K R 284 284 missense 0.001 benign 0.32 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1300801420 17q12 17 37467481A> C null K T 284 284 missense 0.015 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs576475151 17q12 17 37467484G> A null R K 285 285 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs759167526 17q12 17 37467489C> T null Q * 287 287 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1162578231 17q12 17 37467495T> G null Y D 289 289 missense 0.729 possibly damaging 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,NCI-TCGA,gnomAD rs541695385 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37467501A> G null T A 291 291 2.0E-4 missense 0.0 benign 0.81 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1227603812 17q12 17 37467502C> T null T I 291 291 missense 0.007 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs774862825 17q12 17 37467505C> T null A V 292 292 missense 0.06 benign 0.57 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs754005263 17q12 17 37467518T> G null N K 296 296 missense 0.0 benign 0.92 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1326466468 17q12 17 37470400G> A null S N 299 299 missense 0.014 benign 0.32 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs761105676 17q12 17 37470402G> A null A T 300 300 missense 0.087 benign 0.52 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs377297752 17q12 17 37470406G> A null R K 301 301 missense 0.0 benign 0.73 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs528499631 17q12 17 37470414G> A null D N 304 304 2.0E-4 missense 0.001 benign 0.54 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs778943011 17q12 17 37470417C> T null H Y 305 305 missense 0.056 benign 0.61 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1568184956 17q12 17 37470420C> G null L V 306 306 missense 0.82 possibly damaging 0.13 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1214439404 17q12 17 37470425G> C null K N 307 307 missense 0.611 possibly damaging 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1252892619 17q12 17 37470430C> T null T I 309 309 missense 0.009 benign 0.3 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs200169209 17q12 17 37470433G> A null R Q 310 310 2.0E-4 missense 0.928 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs752832027 17q12 17 37470432C> T null R W 310 310 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs781116439 17q12 17 37470439A> G null E G 312 312 missense 0.012 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs565416493 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470444C> T null R C 314 314 2.0E-4 missense 0.655 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs146413054 17q12 17 37470445G> A null R H 314 314 missense 0.007 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142392695 17q12 17 37470450A> C null K Q 316 316 0.003195 missense 0.137 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1022179164 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470453C> T null R C 317 317 missense 0.212 benign 0.06 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1036733761 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470454G> A null R H 317 317 missense 0.197 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1036733761 17q12 17 37470454G> T null R L 317 317 missense 0.15 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed rs768470304 17q12 17 37470460T> C null M T 319 319 missense 0.037 benign 0.17 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter NCI-TCGA,TOPMed,gnomAD rs766832434 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470459A> G null M V 319 319 missense 0.012 benign 0.3 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,NCI-TCGA,gnomAD rs773980698 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470462C> T null L F 320 320 missense 0.139 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs761471503 17q12 17 37470463T> C null L P 320 320 missense 0.188 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1305091524 17q12 17 37470466C> T null S L 321 321 missense 0.079 benign 0.05 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1337284206 17q12 17 37470474C> A null L I 324 324 missense 0.273 benign 0.11 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs773868308 17q12 17 37470492A> T null S C 330 330 missense 0.753 possibly damaging 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs773868308 17q12 17 37470492A> G null S G 330 330 missense 0.005 benign 0.28 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1360759028 17q12 17 37470495A> G null S G 331 331 missense 0.0 benign 0.14 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs760897387 17q12 17 37470496G> C null S T 331 331 missense 0.009 benign 0.36 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1480507342 17q12 17 37470502G> T null C F 333 333 missense 0.033 benign 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1175900996 17q12 17 37470505A> T null Q L 334 334 missense 0.012 benign 0.24 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,NCI-TCGA,TOPMed,gnomAD rs765510378 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37470516C> T null R C 338 338 missense 0.371 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs752708938 17q12 17 37470517G> A null R H 338 338 missense 0.0 benign 0.27 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs765510378 17q12 17 37470516C> A null R S 338 338 missense 0.0 benign 0.39 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149845906 17q12 17 37470520G> A null R Q 339 339 5.99E-4 missense 0.355 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs750408176 17q12 17 37470519C> T null R W 339 339 missense 0.963 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1461272546 17q12 17 37470526C> T null A V 341 341 missense 0.087 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1459775149 17q12 17 37470531A> C null I L 343 343 missense 0.0 benign 0.89 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1312493627 17q12 17 37471095G> A null D N 344 344 missense 0.316 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs777051321 17q12 17 37471101G> A null G S 346 346 missense 0.056 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1173344516 17q12 17 37471108G> A null S N 348 348 missense 0.001 benign 0.49 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed,gnomAD rs1361791575 17q12 17 37471110C> T null P S 349 349 missense 0.015 benign 0.36 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs755385269 17q12 17 37471113T> A null S T 350 350 missense 0.0 benign 0.75 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2522969 17q12 17 37471118T> G null I M 351 351 0.004992 missense 0.009 benign 0.12 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs765389140 17q12 17 37471116A> G null I V 351 351 missense 0.0 benign 0.52 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs762982052 17q12 17 37471122A> G null M V 353 353 missense 0.0 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117373044 17q12 17 37471129C> T null S L 355 355 2.0E-4 missense 0.009 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1193641091 17q12 17 37471131A> T null N Y 356 356 missense 0.106 benign 0.1 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs375609348 17q12 17 37471135C> G null S * 357 357 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,NCI-TCGA,TOPMed,gnomAD rs369901141 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37474562G> A null R Q 360 360 missense 0.491 possibly damaging 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs563439261 17q12 17 37474561C> T null R W 360 360 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs766279125 17q12 17 37474568C> T null A V 362 362 missense 0.82 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs766089640 17q12 17 37474570C> G null P A 363 363 missense 0.058 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs573640576 17q12 17 37474574C> A null P H 364 364 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs573640576 17q12 17 37474574C> T null P L 364 364 2.0E-4 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,gnomAD rs573640576 17q12 17 37474574C> G null P R 364 364 2.0E-4 missense 0.919 probably damaging 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1167215604 17q12 17 37474591C> T null L F 370 370 missense 0.464 possibly damaging 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs746471520 17q12 17 37474613A> G null N S 377 377 missense 0.024 benign 0.28 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1337888572 17q12 17 37474616A> T null E V 378 378 missense 0.138 benign 0.04 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1184472657 17q12 17 37474627G> A null E K 382 382 missense 0.328 benign 0.09 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1272025990 17q12 17 37476806A> T null M L 386 386 missense 0.003 benign 0.8 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1185571871 17q12 17 37476827G> C null A P 393 393 missense 0.019 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs780549502 17q12 17 37476843A> G null K R 398 398 missense 0.307 benign 0.15 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs780549502 17q12 17 37476843A> C null K T 398 398 missense 0.609 possibly damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1319632429 17q12 17 37476857A> C null N H 403 403 missense 0.029 benign 0.21 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1036614439 17q12 17 37476860G> T null E * 404 404 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1036614439 17q12 17 37476860G> C null E Q 404 404 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs749593818 17q12 17 37476865T> G null C W 405 405 missense 0.165 benign 0.02 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,NCI-TCGA,gnomAD rs373768236 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37476876G> A null G E 409 409 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter 1000Genomes,ExAC,TOPMed,gnomAD rs186687337 17q12 17 37476885G> A null R K 412 412 5.99E-4 missense 0.071 benign 0.23 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,NCI-TCGA,TOPMed,gnomAD rs748285471 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 37476891C> T null A V 414 414 missense 0.95 probably damaging 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1296855173 17q12 17 37476893C> T null Q * 415 415 stop gained 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1236270887 17q12 17 37476902G> A null A T 418 418 missense 0.005 benign 1.0 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1346716855 17q12 17 37476908A> C null I L 420 420 missense 0.104 benign 0.01 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,TOPMed,gnomAD rs760842735 17q12 17 37476914A> T null I L 422 422 missense 0.774 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs769797807 17q12 17 37476915T> C null I T 422 422 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs1473275859 17q12 17 37476917G> C null D H 423 423 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs775593551 17q12 17 37476925C> G null N K 425 425 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1346370052 17q12 17 37476929A> G null T A 427 427 missense 0.898 possibly damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter Ensembl rs774041584 17q12 17 37476933G> A null R Q 428 428 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1263964153 17q12 17 37476932C> T null R W 428 428 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter TOPMed rs1434763804 17q12 17 37476938A> G null I V 430 430 missense 0.386 benign 0.03 deleterious 0 A0A024R0Y4 TADA2A Transcriptional adapter gnomAD rs1447715107 17q12 17 37476953A> G null I V 435 435 missense 0.017 benign 0.36 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ESP,ExAC,TOPMed,gnomAD rs376913298 17q12 17 37476968A> G null I V 440 440 missense 0.873 possibly damaging 0.2 tolerated 0 A0A024R0Y4 TADA2A Transcriptional adapter ExAC,gnomAD rs767220490 17q12 17 37476977G> C null G R 443 443 missense 0.718 possibly damaging 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1264375388 9q31.3 9 111631412G> A null G E 2 2 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs999791922 9q31.3 9 111631414G> T null A S 3 3 missense 0.037 benign 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs530603296 9q31.3 9 111631415C> T null A V 3 3 3.99E-4 missense 0.001 benign 0.15 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs544358015 9q31.3 9 111631418C> T null P L 4 4 2.0E-4 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs544358015 9q31.3 9 111631418C> A null P Q 4 4 2.0E-4 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1275801541 9q31.3 9 111631417C> T null P S 4 4 missense 0.009 benign 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs886470284 9q31.3 9 111631421T> C null L P 5 5 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1284295122 9q31.3 9 111631423C> T null L F 6 6 missense 0.063 benign 0.19 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs774301664 9q31.3 9 111631427C> T null S F 7 7 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs960701170 9q31.3 9 111631430C> G null P R 8 8 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs906125776 9q31.3 9 111631442C> G null A G 12 12 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ExAC rs561187112 9q31.3 9 111631441G> A null A T 12 12 3.99E-4 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs906125776 9q31.3 9 111631442C> T null A V 12 12 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1429786258 9q31.3 9 111631445G> A null G E 13 13 missense 0.161 benign 0.17 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1023718695 9q31.3 9 111631448C> T null A V 14 14 missense 0.003 benign 0.44 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1035861157 9q31.3 9 111631453G> A null G S 16 16 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs959766272 9q31.3 9 111631465T> C null W R 20 20 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1481364068 9q31.3 9 111631468A> G null M V 21 21 missense 0.0 benign 0.66 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs952193701 9q31.3 9 111631472T> G null L R 22 22 missense 0.452 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1197351031 9q31.3 9 111631477G> C null A P 24 24 missense 0.0 benign 0.29 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC rs748650710 9q31.3 9 111631478C> T null A V 24 24 missense 0.0 benign 0.74 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC rs770270619 9q31.3 9 111631480C> A null P T 25 25 missense 0.04 benign 0.5 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1186834756 9q31.3 9 111631484T> C null L P 26 26 missense 0.0 benign 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1225667347 9q31.3 9 111631490C> T null P L 28 28 missense 0.0 benign 0.83 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1225667347 9q31.3 9 111631490C> G null P R 28 28 missense 0.045 benign 0.34 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1264165933 9q31.3 9 111631489C> T null P S 28 28 missense 0.015 benign 0.42 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs907721802 9q31.3 9 111631493C> A null A E 29 29 missense 0.018 benign 0.26 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs907721802 9q31.3 9 111631493C> T null A V 29 29 missense 0.0 benign 0.78 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1440643819 9q31.3 9 111631498C> G null L V 31 31 missense 0.082 benign 0.12 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10980984 9q31.3 9 111631504G> T null V L 33 33 0.131 missense 0.025 benign 0.53 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10980984 9q31.3 9 111631504G> C null V L 33 33 0.131 missense 0.025 benign 0.53 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10980984 cosmic curated [Cosmic]: large_intestine cosmic_study:375,cosmic_study:376 9q31.3 9 111631504G> A null V M 33 33 0.131 missense 0.264 benign 0.13 tolerated 1 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1332821008 9q31.3 9 111631508G> T null R L 34 34 missense 0.151 benign 0.2 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1395947701 9q31.3 9 111631507C> T null R W 34 34 missense 0.007 benign 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1448796758 9q31.3 9 111631510C> G null P A 35 35 missense 0.005 benign 0.21 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1287830551 9q31.3 9 111631511C> A null P H 35 35 missense 0.012 benign 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1448796758 9q31.3 9 111631510C> T null P S 35 35 missense 0.007 benign 0.37 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1327268193 9q31.3 9 111631513G> T null A S 36 36 missense 0.003 benign 0.3 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs770523679 9q31.3 9 111631519G> T null A S 38 38 missense 0.915 probably damaging 0.07 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1199775729 9q31.3 9 111631520C> T null A V 38 38 missense 0.974 probably damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1420475080 9q31.3 9 111631525G> C null V L 40 40 missense 0.033 benign 0.42 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1253949277 9q31.3 9 111631528G> T null E * 41 41 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1444088699 9q31.3 9 111631530G> T null E D 41 41 missense 0.086 benign 0.28 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs968390000 9q31.3 9 111631532G> A null G E 42 42 missense 0.913 probably damaging 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs968390000 9q31.3 9 111631532G> T null G V 42 42 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs766344689 9q31.3 9 111631547C> A null T K 47 47 missense 0.025 benign 0.94 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs766344689 9q31.3 9 111631547C> T null T M 47 47 missense 0.825 possibly damaging 0.08 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1413138772 9q31.3 9 111631550G> T null R L 48 48 missense 0.663 possibly damaging 0.05 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1171218907 9q31.3 9 111631554C> A null D E 49 49 missense 0.581 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes rs566864923 9q31.3 9 111631553A> T null D V 49 49 2.0E-4 missense 0.039 benign 0.22 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1465886893 9q31.3 9 111631552G> T null D Y 49 49 missense 0.916 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1307196837 9q31.3 9 111631560C> G null Y * 51 51 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1399357407 9q31.3 9 111631570G> T null G C 55 55 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1399357407 9q31.3 9 111631570G> A null G S 55 55 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs771691965 9q31.3 9 111631573G> T null V L 56 56 missense 0.773 possibly damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs771691965 9q31.3 9 111631573G> A null V M 56 56 missense 0.889 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1450333835 9q31.3 9 111631576A> G null S G 57 57 missense 0.033 benign 0.07 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs775630762 9q31.3 9 111631579C> T null R C 58 58 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes rs532686498 9q31.3 9 111631583C> T null S L 59 59 2.0E-4 missense 0.23 benign 0.06 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1232198508 9q31.3 9 111631588G> T null G C 61 61 missense 0.77 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1343011881 9q31.3 9 111631592A> C null K T 62 62 missense 0.537 possibly damaging 0.05 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1254046094 9q31.3 9 111631600A> G null I V 65 65 missense 0.55 possibly damaging 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs947174502 9q31.3 9 111631609G> A null A T 68 68 missense 0.881 possibly damaging 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1157530057 9q31.3 9 111631619A> C null Q P 71 71 missense 0.867 possibly damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1206811335 9q31.3 9 111631625C> T null A V 73 73 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1444782234 9q31.3 9 111631628G> A null R Q 74 74 missense 0.939 probably damaging 0.03 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1252034172 9q31.3 9 111631631G> A null R H 75 75 missense 0.921 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1432254682 9q31.3 9 111631634A> G null Y C 76 76 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1168576360 9q31.3 9 111631655C> T null P L 83 83 missense 0.07 benign 0.03 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1255938123 9q31.3 9 111631654C> T null P S 83 83 missense 0.054 benign 0.1 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs760530524 9q31.3 9 111631659G> T null Q H 84 84 missense 0.408 benign 0.04 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1431663363 9q31.3 9 111631657C> A null Q K 84 84 missense 0.013 benign 0.12 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs753597719 9q31.3 9 111631663G> A null G R 86 86 missense 0.592 possibly damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1360322205 9q31.3 9 111631667A> C null D A 87 87 missense 0.0 benign 0.12 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1298920536 9q31.3 9 111631669G> C null E Q 88 88 missense 0.014 benign 0.16 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1317216843 9q31.3 9 111631672G> A null G S 89 89 missense 0.017 benign 0.05 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,TOPMed,gnomAD rs552369308 9q31.3 9 111631676C> T null P L 90 90 7.99E-4 missense 0.0 benign 0.07 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1340006056 9q31.3 9 111631678G> T null G W 91 91 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs761627108 9q31.3 9 111631687C> T null P S 94 94 missense 0.023 benign 0.06 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs112180032 9q31.3 9 111631690C> G null Q E 95 95 missense 0.003 benign 0.87 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1047778084 9q31.3 9 111631696G> C null A P 97 97 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1251392357 9q31.3 9 111631697C> T null A V 97 97 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1296047351 9q31.3 9 111631706C> G null A G 100 100 missense 0.461 possibly damaging 0.19 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1207770092 9q31.3 9 111631715T> A null L Q 103 103 missense 0.171 benign 0.42 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs867314244 9q31.3 9 111631720G> A null A T 105 105 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1269899110 9q31.3 9 111631721C> T null A V 105 105 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs766627561 9q31.3 9 111631723A> G null T A 106 106 missense 0.155 benign 0.05 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1388804754 9q31.3 9 111631732G> A null E K 109 109 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1388804754 9q31.3 9 111631732G> C null E Q 109 109 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1451892812 9q31.3 9 111631738C> T null L F 111 111 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1451892812 9q31.3 9 111631738C> G null L V 111 111 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1212247774 9q31.3 9 111666818T> C null S P 114 114 missense 0.503 possibly damaging 0.32 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ESP,ExAC,TOPMed,gnomAD rs372546622 9q31.3 9 111666821C> T null Q * 115 115 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1489102839 9q31.3 9 111666830G> T null A S 118 118 missense 0.091 benign 0.27 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1204565767 9q31.3 9 111666831C> T null A V 118 118 missense 0.627 possibly damaging 0.17 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs778762707 9q31.3 9 111666839C> T null Q * 121 121 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1474729722 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 9q31.3 9 111666847C> A null Y * 123 123 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1474729722 9q31.3 9 111666847C> G null Y * 123 123 stop gained 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,NCI-TCGA rs779628567 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 111666848T> A null C S 124 124 missense 0.998 probably damaging 0.48 tolerated 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs746454143 9q31.3 9 111666852T> A null M K 125 125 missense 0.099 benign 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs746454143 9q31.3 9 111666852T> G null M R 125 125 missense 0.26 benign 0.01 deleterious 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs768611495 9q31.3 9 111666864G> T null C F 129 129 missense 0.834 possibly damaging 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma 1000Genomes,ExAC,gnomAD rs528697467 9q31.3 9 111666871T> G null D E 131 131 2.0E-4 missense 0.861 possibly damaging 0.11 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs747996557 9q31.3 9 111666873C> G null A G 132 132 missense 0.178 benign 0.73 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs747996557 9q31.3 9 111666873C> T null A V 132 132 missense 0.975 probably damaging 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1354456540 9q31.3 9 111666881G> T null V L 135 135 missense 0.011 benign 0.52 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1354456540 9q31.3 9 111666881G> A null V M 135 135 missense 0.127 benign 0.13 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs920207865 9q31.3 9 111666887G> A null V I 137 137 missense 0.067 benign 0.68 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs969884301 9q31.3 9 111666891C> G null P R 138 138 missense 0.987 probably damaging 0.01 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs759820293 9q31.3 9 111666890C> T null P S 138 138 missense 0.698 possibly damaging 0.03 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs113951364 9q31.3 9 111666893G> C null A P 139 139 missense 0.956 probably damaging 0.33 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs538617954 9q31.3 9 111666894C> T null A V 139 139 missense 0.766 possibly damaging 0.1 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed,gnomAD rs1239015418 9q31.3 9 111666900G> T null S I 141 141 missense 0.967 probably damaging 0.02 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,TOPMed,gnomAD rs760644969 9q31.3 9 111666904C> A null N K 142 142 missense 0.232 benign 0.28 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs775674485 9q31.3 9 111666903A> G null N S 142 142 missense 0.768 possibly damaging 0.52 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma gnomAD rs1217466195 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 111666906C> T null P L 143 143 missense 0.956 probably damaging 0.37 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs754379804 9q31.3 9 111666912G> A null R Q 145 145 missense 0.934 probably damaging 0.04 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,NCI-TCGA,TOPMed,gnomAD rs776244288 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 111666911C> T null R W 145 145 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma Ensembl rs939964706 9q31.3 9 111666916G> T null E D 146 146 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ESP,ExAC,gnomAD rs377200861 9q31.3 9 111666930C> G null A G 151 151 missense 0.691 possibly damaging 0.28 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma TOPMed rs1180185756 9q31.3 9 111666929G> A null A T 151 151 missense 0.041 benign 0.45 tolerated - low confidence 0 A0A024R161 DNAJC25-GNG10 Guanine nucleotide-binding protein subunit gamma ExAC,gnomAD rs758092675 9q31.3 9 111666938T> C null * R 154 154 stop lost 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs910273782 22q13.1 22 39964383C> G null S R 3 3 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1317667301 22q13.1 22 39964385A> G null H R 4 4 missense 0.0 unknown 1.0 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1365194164 22q13.1 22 39964387G> A null E K 5 5 missense 0.0 unknown 0.25 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs772945574 22q13.1 22 39964391G> T null G V 6 6 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1401884210 22q13.1 22 39964397A> G null K R 8 8 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 1000Genomes rs530685978 22q13.1 22 39964399A> C null K Q 9 9 2.0E-4 missense 0.0 unknown 0.1 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 Ensembl rs1042858189 22q13.1 22 39964402A> G null K E 10 10 missense 0.0 unknown 0.05 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs749102745 22q13.1 22 39964403A> C null K T 10 10 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed,gnomAD rs1420781707 22q13.1 22 39964405G> A null A T 11 11 missense 0.0 unknown 0.01 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed,gnomAD rs889494933 22q13.1 22 39964415A> G null Q R 14 14 missense 0.0 unknown 0.11 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 Ensembl rs1297948549 22q13.1 22 39964417C> T null P S 15 15 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1184043693 22q13.1 22 39964423A> G null K E 17 17 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1008307302 22q13.1 22 39964426C> T null Q * 18 18 stop gained 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1195265494 22q13.1 22 39964430C> T null A V 19 19 missense 0.0 unknown 0.06 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 Ensembl rs772865677 22q13.1 22 39964434G> C null K N 20 20 missense 0.0 unknown 0.04 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 Ensembl rs934530393 22q13.1 22 39964438A> G null M V 22 22 missense 0.0 unknown 0.1 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 1000Genomes rs548731683 22q13.1 22 39964444G> A null E K 24 24 2.0E-4 missense 0.0 unknown 0.16 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1285090426 22q13.1 22 39964449A> T null E D 25 25 missense 0.0 unknown 0.55 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 Ensembl rs112093393 22q13.1 22 39964448A> G null E G 25 25 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 Ensembl rs112093393 22q13.1 22 39964448A> T null E V 25 25 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1209440421 22q13.1 22 39964453A> T null K * 27 27 stop gained 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1354579423 22q13.1 22 39964454A> G null K R 27 27 missense 0.0 unknown 0.57 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 gnomAD rs1314932549 22q13.1 22 39964456G> A null A T 28 28 missense 0.0 unknown 0.06 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 1000Genomes rs561892654 22q13.1 22 39964472A> G null Q R 33 33 2.0E-4 missense 0.0 unknown 0.04 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed,gnomAD rs1414198674 22q13.1 22 39964475A> C null K T 34 34 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed,gnomAD rs950028905 22q13.1 22 39964483C> T null Q * 37 37 stop gained 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1295986482 22q13.1 22 39964492C> T null L F 40 40 missense 0.0 unknown 0.07 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 gnomAD rs1390166424 22q13.1 22 39964498G> A null V M 42 42 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1009960253 22q13.1 22 39964504A> C null K Q 44 44 missense 0.0 unknown 0.16 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1021486452 22q13.1 22 39964507G> C null A P 45 45 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1021486452 22q13.1 22 39964507G> A null A T 45 45 missense 0.0 unknown 0.11 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs1044803074 22q13.1 22 39964508C> T null A V 45 45 missense 0.0 unknown 0.2 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed,gnomAD rs1006051760 22q13.1 22 39964516G> A null V M 48 48 missense 0.0 unknown 0.24 tolerated 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 1000Genomes,TOPMed,gnomAD rs566144131 22q13.1 22 39964525G> A null G R 51 51 3.99E-4 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed,gnomAD rs927193490 22q13.1 22 39964528C> A null P T 52 52 missense 0.0 unknown 0.02 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed,gnomAD rs897307469 22q13.1 22 39964531C> G null L V 53 53 missense 0.0 unknown 0.01 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed rs993247212 22q13.1 22 39964544G> A null G E 57 57 missense 0.0 unknown 0.04 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 TOPMed,gnomAD rs1209588458 22q13.1 22 39964555T> G null S A 61 61 missense 0.0 unknown 0.0 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 Ensembl rs994366137 22q13.1 22 39964556C> T null S F 61 61 missense 0.0 unknown 0.03 deleterious 0 A0A024R1R8 hCG_2014768 Coiled-coil domain-containing protein 72 gnomAD rs1481613386 22q13.1 22 39964566A> T null K N 64 64 missense 0.0 unknown 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1396946272 15q25.2 15 82628324C> T null W * 3 3 stop gained 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs759760225 15q25.2 15 82628325C> G null W S 3 3 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1036094073 15q25.2 15 82628307G> A null T I 9 9 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1261016853 15q25.2 15 82628300A> C null F L 11 11 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1486644364 15q25.2 15 82628301A> T null F Y 11 11 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567232719 15q25.2 15 82628298C> T null C Y 12 12 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1345176862 15q25.2 15 82628295T> A null H L 13 13 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1345176862 15q25.2 15 82628295T> C null H R 13 13 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1209687019 15q25.2 15 82628296G> A null H Y 13 13 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1234964417 15q25.2 15 82628291G> C null I M 14 14 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1281799504 15q25.2 15 82628292A> T null I N 14 14 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs555797882 15q25.2 15 82628289T> C null Y C 15 15 5.99E-4 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,gnomAD rs542968277 15q25.2 15 82628287T> C null S G 16 16 2.0E-4 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs921507560 15q25.2 15 82628277T> A null H L 19 19 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs921507560 15q25.2 15 82628277T> C null H R 19 19 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes rs192139739 15q25.2 15 82628278G> A null H Y 19 19 2.0E-4 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1413133412 15q25.2 15 82628274T> C null D G 20 20 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs186787813 15q25.2 15 82628257A> C null C G 26 26 2.0E-4 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs186787813 15q25.2 15 82628257A> G null C R 26 26 2.0E-4 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1173156073 15q25.2 15 82628256C> G null C S 26 26 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs551153300 15q25.2 15 82628253C> T null G D 27 27 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1194324801 15q25.2 15 82628251T> C null K E 28 28 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1255875594 15q25.2 15 82628247G> C null S C 29 29 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1255875594 15q25.2 15 82628247G> T null S Y 29 29 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1484460362 15q25.2 15 82628241T> G null K T 31 31 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1210897406 15q25.2 15 82628236A> G null C R 33 33 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,TOPMed rs533959069 15q25.2 15 82628229G> A null T I 35 35 3.99E-4 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1307901601 15q25.2 15 82628218T> A null S C 39 39 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs150842273 15q25.2 15 82628203C> A null E * 44 44 0.001797 stop gained 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs150842273 15q25.2 15 82628203C> T null E K 44 44 0.001797 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1390960145 15q25.2 15 82628192A> C null I M 47 47 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1313563570 15q25.2 15 82628194T> C null I V 47 47 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs988426601 15q25.2 15 82628189C> G null L F 48 48 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs967465790 15q25.2 15 82628187C> G null G A 49 49 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1300467834 15q25.2 15 82628183C> G null M I 50 50 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1394404969 15q25.2 15 82628185T> C null M V 50 50 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1368281046 15q25.2 15 82628180C> T null M I 51 51 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,TOPMed,gnomAD rs557389544 15q25.2 15 82628181A> G null M T 51 51 0.0 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs958274616 15q25.2 15 82628169T> G null D A 55 55 missense 0.0 unknown 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,TOPMed rs183470527 15q25.2 15 82628153C> T null M I 60 60 0.001198 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1419667704 15q25.2 15 82628149C> T null A T 62 62 missense 0.682 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs975789910 15q25.2 15 82628145A> G null L S 63 63 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs548554449 15q25.2 15 82628142G> C null S * 64 64 2.0E-4 stop gained 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1436774265 15q25.2 15 82628143A> T null S T 64 64 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202018031 15q25.2 15 82627360T> G null E A 68 68 3.99E-4 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1239944704 15q25.2 15 82627358C> A null A S 69 69 missense 0.001 benign 0.18 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs748700912 15q25.2 15 82627354C> T null G E 70 70 missense 0.925 probably damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1443716055 15q25.2 15 82627349T> A null I L 72 72 missense 0.0 benign 0.32 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs760880558 15q25.2 15 82627347T> C null I M 72 72 missense 0.075 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1347429740 15q25.2 15 82627346T> C null K E 73 73 missense 0.107 benign 0.43 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1194262152 15q25.2 15 82627345T> G null K T 73 73 missense 0.265 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs528444931 15q25.2 15 82627343C> G null D H 74 74 5.99E-4 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1399767623 15q25.2 15 82627340A> C null C G 75 75 missense 0.405 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1399767623 15q25.2 15 82627340A> G null C R 75 75 missense 0.628 possibly damaging 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1180577628 15q25.2 15 82627334C> T null D N 77 77 missense 0.691 possibly damaging 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1382239197 15q25.2 15 82627328G> A null Q * 79 79 stop gained 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1382239197 15q25.2 15 82627328G> C null Q E 79 79 missense 0.107 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs748604452 15q25.2 15 82627327T> C null Q R 79 79 missense 0.201 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs868523340 15q25.2 15 82627325C> A null E * 80 80 stop gained 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs868523340 15q25.2 15 82627325C> T null E K 80 80 missense 0.121 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61733713 15q25.2 15 82627322C> T null A T 81 81 0.007788 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567231999 15q25.2 15 82627319G> A null P S 82 82 missense 0.053 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1393930063 15q25.2 15 82627316C> G null A P 83 83 missense 0.824 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC rs769267245 15q25.2 15 82627313G> A null L F 84 84 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs370569656 15q25.2 15 82627312A> G null L P 84 84 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs376164471 15q25.2 15 82627307T> C null T A 86 86 missense 0.107 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs374349658 15q25.2 15 82627306G> A null T M 86 86 missense 0.561 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1286685439 15q25.2 15 82627300C> T null S N 88 88 missense 0.116 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs780574053 15q25.2 15 82627298T> G null N H 89 89 missense 0.824 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs897203190 15q25.2 15 82627291T> C null N S 91 91 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs370977022 15q25.2 15 82627286A> C null F V 93 93 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs751474815 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82627282C> T null R Q 94 94 missense 0.007 benign 0.05 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs758301379 15q25.2 15 82627279C> T null R K 95 95 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1429146037 15q25.2 15 82627271C> T null A T 98 98 missense 0.005 benign 0.81 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,TOPMed,gnomAD rs377521130 15q25.2 15 82627268T> C null I V 99 99 missense 0.023 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs923070859 15q25.2 15 82627265A> T null L M 100 100 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1302451796 15q25.2 15 82627259T> C null N D 102 102 missense 0.015 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1400195288 15q25.2 15 82627253G> C null L V 104 104 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1171141221 15q25.2 15 82627249T> C null D G 105 105 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1425697191 15q25.2 15 82627243C> G null S T 107 107 missense 0.003 benign 0.51 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs760817775 15q25.2 15 82627235A> G null C R 110 110 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs773415266 15q25.2 15 82627234C> T null C Y 110 110 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1485440143 15q25.2 15 82627232T> C null T A 111 111 missense 0.022 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1225676826 15q25.2 15 82627231G> A null T I 111 111 missense 0.663 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs941472138 15q25.2 15 82627229T> C null T A 112 112 missense 0.183 benign 0.05 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs767520769 15q25.2 15 82627223T> C null I V 114 114 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs761900804 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82627216C> T null R Q 116 116 missense 0.005 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP rs369500861 15q25.2 15 82627209A> C null I M 118 118 missense 0.005 benign 0.09 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1318784954 15q25.2 15 82627211T> C null I V 118 118 missense 0.0 benign 0.73 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs769357207 15q25.2 15 82627207T> A null H L 119 119 missense 0.058 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs774544798 15q25.2 15 82627208G> A null H Y 119 119 missense 0.201 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs749802457 15q25.2 15 82627204T> C null D G 120 120 missense 0.079 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs776012986 15q25.2 15 82627197C> G null L F 122 122 missense 0.018 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs751767966 15q25.2 15 82571528G> T null F L 125 125 missense 0.006 benign 0.31 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs752803486 15q25.2 15 82571521A> C null S A 128 128 missense 0.359 benign 0.13 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs765813900 15q25.2 15 82571514T> G null E A 130 130 missense 0.001 benign 0.16 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs759956063 15q25.2 15 82571513T> A null E D 130 130 missense 0.003 benign 0.11 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs181711228 15q25.2 15 82571511G> C null T R 131 131 5.99E-4 missense 0.219 benign 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs771141046 15q25.2 15 82571505G> T null T K 133 133 missense 0.036 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1257618465 15q25.2 15 82571500T> C null R G 135 135 missense 0.154 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1301303824 15q25.2 15 82571493A> G null L P 137 137 missense 0.999 probably damaging 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201068240 15q25.2 15 82571485T> C null T A 140 140 3.99E-4 missense 0.173 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs998507815 15q25.2 15 82571484G> A null T I 140 140 missense 0.663 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201068240 15q25.2 15 82571485T> G null T P 140 140 3.99E-4 missense 0.009 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs998507815 15q25.2 15 82571484G> C null T S 140 140 missense 0.029 benign 0.39 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs537799390 15q25.2 15 82571481G> C null S C 141 141 missense 0.027 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs537799390 15q25.2 15 82571481G> A null S F 141 141 missense 0.885 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374422926 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82571478G> A null A V 142 142 2.0E-4 missense 0.254 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1391333807 15q25.2 15 82571475T> G null Q P 143 143 missense 0.564 possibly damaging 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1391333807 15q25.2 15 82571475T> C null Q R 143 143 missense 0.124 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1192351271 15q25.2 15 82571469G> A null S F 145 145 missense 0.858 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200188266 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82571464G> A null R C 147 147 2.0E-4 missense 0.017 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200188266 15q25.2 15 82571464G> C null R G 147 147 2.0E-4 missense 0.535 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778190180 15q25.2 15 82571463C> A null R L 147 147 missense 0.372 benign 0.05 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1394173250 15q25.2 15 82571461C> T null G S 148 148 missense 0.817 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1163808161 15q25.2 15 82571458G> A null L F 149 149 missense 0.914 probably damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs758663360 15q25.2 15 82571457A> C null L R 149 149 missense 0.716 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1187561538 15q25.2 15 82571449C> A null A S 152 152 missense 0.173 benign 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1370982565 15q25.2 15 82571440A> T null L M 155 155 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1418000076 15q25.2 15 82571436C> A null C F 156 156 missense 0.885 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs765216065 15q25.2 15 82571434G> A null L F 157 157 missense 0.997 probably damaging 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs986269316 15q25.2 15 82571433A> C null L R 157 157 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs774915539 15q25.2 15 82571424T> C null Q R 160 160 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1168259742 15q25.2 15 82571416T> A null S C 163 163 missense 0.891 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP rs373592605 15q25.2 15 82571413G> C null L V 164 164 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs971561948 15q25.2 15 82571398G> C null R G 169 169 missense 0.736 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1266113402 15q25.2 15 82571397C> T null R Q 169 169 missense 0.072 benign 0.09 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs766794382 15q25.2 15 82571394G> A null P L 170 170 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1312155443 15q25.2 15 82571389T> C null S G 172 172 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs773540758 15q25.2 15 82571385G> A null T I 173 173 missense 0.827 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1303579681 15q25.2 15 82571378G> C null D E 175 175 missense 0.038 benign 0.19 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs761444395 15q25.2 15 82571376G> A null S L 176 176 missense 0.085 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370471256 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82571364G> T null A D 180 180 missense 0.075 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs202165773 15q25.2 15 82571357G> T null S R 182 182 missense 0.211 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1160416512 15q25.2 15 82571349T> C null H R 185 185 missense 0.037 benign 0.09 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs376051599 15q25.2 15 82571346G> A null S L 186 186 missense 0.56 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs376051599 15q25.2 15 82571346G> C null S W 186 186 missense 0.971 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1411739407 15q25.2 15 82557980C> G null S T 189 189 missense 0.107 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1486474469 15q25.2 15 82557977A> G null M T 190 190 missense 0.058 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs374108325 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82557975G> A null L F 191 191 2.0E-4 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs768896324 15q25.2 15 82557971T> C null H R 192 192 missense 0.023 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,gnomAD rs377642839 15q25.2 15 82557960C> T null G R 196 196 missense 0.967 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1178813350 15q25.2 15 82557956T> C null N S 197 197 missense 0.001 benign 0.36 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1383859431 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82557947C> T null G E 200 200 missense 0.187 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs897294113 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82557938G> A null P L 203 203 missense 0.372 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs780099982 15q25.2 15 82557926A> G null L P 207 207 missense 0.999 probably damaging 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1198907027 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82557924G> T null P T 208 208 missense 0.439 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1037625600 15q25.2 15 82557918C> T null D N 210 210 missense 0.318 benign 0.05 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1287135294 15q25.2 15 82557909C> A null G W 213 213 missense 0.938 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1431462434 15q25.2 15 82557905G> C null S C 214 214 missense 0.518 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1173149377 15q25.2 15 82557892G> T null D E 218 218 missense 0.015 benign 0.7 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs781571987 15q25.2 15 82557888A> G null F L 220 220 missense 0.009 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs751930618 15q25.2 15 82557885G> C null P A 221 221 missense 0.179 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs944212857 15q25.2 15 82557884G> A null P L 221 221 missense 0.647 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs751930618 15q25.2 15 82557885G> A null P S 221 221 missense 0.046 benign 0.12 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1436890245 15q25.2 15 82557882C> T null A T 222 222 missense 0.003 benign 0.23 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs763694189 15q25.2 15 82557870T> C null R G 226 226 missense 0.675 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1440455205 15q25.2 15 82557867C> T null G R 227 227 missense 0.59 possibly damaging 0.13 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs762664847 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82557861G> A null R C 229 229 missense 0.938 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs866404089 15q25.2 15 82557860C> T null R H 229 229 missense 0.039 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs866404089 15q25.2 15 82557860C> A null R L 229 229 missense 0.796 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs762664847 15q25.2 15 82557861G> T null R S 229 229 missense 0.736 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs764781490 15q25.2 15 82557852T> C null T A 232 232 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs200353216 15q25.2 15 82557848C> T null R Q 233 233 missense 0.014 benign 0.13 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs374178054 15q25.2 15 82557849G> A null R W 233 233 missense 0.857 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs760432506 15q25.2 15 82557845G> A null P L 234 234 missense 0.385 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs377214567 15q25.2 15 82557840G> C null L V 236 236 missense 0.513 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs780115988 15q25.2 15 82557812T> C null D G 245 245 missense 0.864 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1233363237 15q25.2 15 82557777G> A null H Y 257 257 missense 0.022 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1206392622 15q25.2 15 82557774G> T null L I 258 258 missense 0.007 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs990051817 15q25.2 15 82557761A> G null I T 262 262 missense 0.496 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1312838117 15q25.2 15 82556118C> T null S N 264 264 missense 0.022 benign 0.12 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs940994460 15q25.2 15 82556113G> A null R C 266 266 missense 0.997 probably damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1361276650 15q25.2 15 82556112C> T null R H 266 266 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567174479 15q25.2 15 82556107A> C null S A 268 268 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1177161932 15q25.2 15 82556095G> A null P S 272 272 missense 0.998 probably damaging 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1428289662 15q25.2 15 82556090G> C null F L 273 273 missense 0.389 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs771402341 15q25.2 15 82556083G> T null L M 276 276 missense 0.015 benign 0.1 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1199822461 15q25.2 15 82556076C> G null G A 278 278 missense 0.022 benign 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1301504898 15q25.2 15 82556077C> G null G R 278 278 missense 0.748 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs758747685 15q25.2 15 82556073C> T null G D 279 279 missense 0.124 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567174374 15q25.2 15 82556068G> A null P S 281 281 missense 0.022 benign 0.26 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs374639193 15q25.2 15 82556065T> C null R G 282 282 missense 0.6 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1256446072 15q25.2 15 82556064C> T null R K 282 282 missense 0.038 benign 0.32 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1341235188 15q25.2 15 82556049A> G null M T 287 287 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs916554329 15q25.2 15 82556050T> C null M V 287 287 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1312024593 15q25.2 15 82556046C> T null G E 288 288 missense 0.242 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567174322 15q25.2 15 82556047C> T null G R 288 288 missense 0.015 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs765897586 15q25.2 15 82556043A> G null V A 289 289 missense 0.022 benign 0.29 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c NCI-TCGA,TOPMed,gnomAD rs202101964 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82556044C> T null V I 289 289 missense 0.225 benign 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs767240699 15q25.2 15 82556040C> T null G E 290 290 missense 0.436 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs371798240 15q25.2 15 82556041C> G null G R 290 290 missense 0.837 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs761721227 15q25.2 15 82556037G> A null S F 291 291 missense 0.93 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs765510280 15q25.2 15 82556034C> T null R Q 292 292 missense 0.007 benign 0.07 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs774102152 15q25.2 15 82556035G> A null R W 292 292 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs776707753 15q25.2 15 82556030C> T null M I 293 293 missense 0.009 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs776707753 15q25.2 15 82556030C> G null M I 293 293 missense 0.009 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201992482 15q25.2 15 82556031A> G null M T 293 293 2.0E-4 missense 0.068 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs201042979 15q25.2 15 82556029C> T null D N 294 294 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs773719815 15q25.2 15 82556021C> G null E D 296 296 missense 0.001 benign 0.56 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs747500576 15q25.2 15 82556022T> C null E G 296 296 missense 0.085 benign 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1200773337 15q25.2 15 82556017C> G null A P 298 298 missense 0.998 probably damaging 0.09 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs772436267 15q25.2 15 82556013G> C null A G 299 299 missense 0.461 possibly damaging 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1268935356 15q25.2 15 82555987T> C null T A 308 308 missense 0.003 benign 0.51 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs779412598 15q25.2 15 82555986G> A null T I 308 308 missense 0.173 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs779412598 15q25.2 15 82555986G> C null T S 308 308 missense 0.019 benign 0.37 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1314110836 15q25.2 15 82555975T> C null K E 312 312 missense 0.496 possibly damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375007947 15q25.2 15 82555973C> A null K N 312 312 missense 0.677 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs978321225 15q25.2 15 82555966G> A null P S 315 315 missense 0.866 possibly damaging 0.15 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1053438406 15q25.2 15 82555963C> T null G R 316 316 missense 0.9 possibly damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1333714042 15q25.2 15 82555959G> A null A V 317 317 missense 0.23 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1396851769 15q25.2 15 82555947G> A null P L 321 321 missense 0.947 probably damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375566002 15q25.2 15 82555939C> T null D N 324 324 missense 0.006 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1369653545 15q25.2 15 82555936G> T null L I 325 325 missense 0.337 benign 0.04 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1324050964 15q25.2 15 82555935A> G null L P 325 325 missense 0.914 probably damaging 0.01 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs757183251 15q25.2 15 82555933G> A null L F 326 326 missense 0.066 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed rs199575057 15q25.2 15 82555930C> T null E K 327 327 2.0E-4 missense 0.005 benign 0.09 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1236141936 15q25.2 15 82555929T> A null E V 327 327 missense 0.154 benign 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs771010179 15q25.2 15 82555923G> A null P L 329 329 missense 0.382 benign 0.03 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs759760492 15q25.2 15 82555924G> A null P S 329 329 missense 0.04 benign 0.18 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1218570054 15q25.2 15 82555914G> A null P L 332 332 missense 0.826 possibly damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs766390631 15q25.2 15 82555899C> T null R K 337 337 missense 0.573 possibly damaging 0.05 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1325006379 15q25.2 15 82555896T> C null E G 338 338 missense 0.6 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs760857489 15q25.2 15 82555897C> T null E K 338 338 missense 0.523 possibly damaging 0.07 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs371097233 15q25.2 15 82555889C> A null R S 340 340 missense 0.311 benign 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1230915788 15q25.2 15 82555879G> T null Q K 344 344 missense 0.968 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1322512092 15q25.2 15 82555870C> T null A T 347 347 missense 0.814 possibly damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1265368312 15q25.2 15 82553989C> A null V L 348 348 missense 0.095 benign 0.21 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1442284803 15q25.2 15 82553964C> T null S N 356 356 missense 0.994 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs775717963 15q25.2 15 82553963A> C null S R 356 356 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1413976965 15q25.2 15 82553957C> A null Q H 358 358 missense 0.015 benign 0.04 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs769544216 15q25.2 15 82553958T> C null Q R 358 358 missense 0.52 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375580464 15q25.2 15 82553952G> C null P R 360 360 missense 0.925 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs770390317 15q25.2 15 82553949G> A null P L 361 361 missense 0.866 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs372549710 15q25.2 15 82553950G> A null P S 361 361 missense 0.187 benign 0.05 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs777735904 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q25.2 15 82553946C> T null R Q 362 362 missense 0.007 benign 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC rs758299678 15q25.2 15 82553925T> C null Y C 369 369 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs752604379 15q25.2 15 82553914C> T null V M 373 373 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375484108 15q25.2 15 82553887T> C null I V 382 382 missense 0.978 probably damaging 0.11 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1445702584 15q25.2 15 82553553C> T null G E 386 386 missense 1.0 probably damaging 0.36 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1177230227 15q25.2 15 82553551A> T null L I 387 387 missense 0.99 probably damaging 0.17 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778770274 15q25.2 15 82553548C> T null V I 388 388 missense 0.003 benign 0.81 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1204738005 15q25.2 15 82553542T> C null T A 390 390 missense 0.775 possibly damaging 0.27 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1378813542 15q25.2 15 82553541G> C null T S 390 390 missense 0.826 possibly damaging 0.25 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1450571194 15q25.2 15 82553539A> G null F L 391 391 missense 0.979 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1287067981 15q25.2 15 82553536G> A null R C 392 392 missense 0.003 benign 0.09 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs754687553 15q25.2 15 82553535C> T null R H 392 392 missense 0.003 benign 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs749088988 15q25.2 15 82553523G> T null S Y 396 396 missense 0.814 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1308430737 15q25.2 15 82553521A> C null L V 397 397 missense 0.203 benign 0.26 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1237753733 15q25.2 15 82553517C> T null S N 398 398 missense 0.009 benign 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1018099950 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82553481C> T null R Q 410 410 missense 0.82 possibly damaging 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs781607914 15q25.2 15 82553482G> A null R W 410 410 missense 0.911 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1298995502 15q25.2 15 82553469T> C null K R 414 414 missense 0.991 probably damaging 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1435971404 15q25.2 15 82553461T> C null M V 417 417 missense 0.0 benign 0.44 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1348224605 15q25.2 15 82553455T> C null K E 419 419 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1310192665 15q25.2 15 82552613T> C null Y C 421 421 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs755502093 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82552601A> C null V G 425 425 missense 0.93 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs776809406 15q25.2 15 82552602C> T null V I 425 425 missense 0.488 possibly damaging 0.41 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,TOPMed rs374285215 15q25.2 15 82552595T> A null E V 427 427 missense 0.9 possibly damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200502593 15q25.2 15 82552585C> A null K N 430 430 0.002995 missense 0.866 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs982099662 15q25.2 15 82552584A> C null S A 431 431 missense 0.145 benign 0.07 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1401919754 15q25.2 15 82552583G> A null S F 431 431 missense 0.13 benign 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs760324550 15q25.2 15 82552577C> T null R Q 433 433 missense 0.99 probably damaging 0.3 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1446337800 15q25.2 15 82552574G> A null S F 434 434 missense 0.347 benign 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs200180986 15q25.2 15 82552566G> C null Q E 437 437 missense 0.415 benign 0.09 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs761271959 15q25.2 15 82552565T> C null Q R 437 437 missense 0.52 possibly damaging 0.05 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs768534811 15q25.2 15 82552562G> A null A V 438 438 missense 0.623 possibly damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs762926242 15q25.2 15 82552554G> A null H Y 441 441 missense 0.201 benign 0.12 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,gnomAD rs370076554 15q25.2 15 82552551C> A null D Y 442 442 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs185845489 15q25.2 15 82552547G> A null P L 443 443 2.0E-4 missense 0.007 benign 0.81 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC rs747259960 15q25.2 15 82552540G> T null S R 445 445 missense 0.775 possibly damaging 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1244692716 15q25.2 15 82552541C> G null S T 445 445 missense 0.675 possibly damaging 0.08 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1372269615 15q25.2 15 82552538G> A null P L 446 446 missense 0.466 possibly damaging 0.02 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs777908639 15q25.2 15 82552535T> C null D G 447 447 missense 0.121 benign 0.17 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1375173029 15q25.2 15 82552529A> G null L P 449 449 missense 0.003 benign 0.08 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed rs375776536 15q25.2 15 82552520T> C null Y C 452 452 missense 0.891 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1005914277 15q25.2 15 82552512T> G null K Q 455 455 missense 0.997 probably damaging 0.03 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1318565769 15q25.2 15 82552508A> G null M T 456 456 missense 0.546 possibly damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs748240361 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82552499C> T null R Q 459 459 missense 0.996 probably damaging 0.04 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1229767581 15q25.2 15 82552492C> T null M I 461 461 missense 0.121 benign 0.32 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs373879261 15q25.2 15 82552491G> A null R C 462 462 missense 0.938 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1312676021 15q25.2 15 82552490C> T null R H 462 462 missense 0.938 probably damaging 0.05 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC rs376299266 15q25.2 15 82552488A> G null C R 463 463 missense 0.998 probably damaging 0.15 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1227058059 15q25.2 15 82552483C> G null K N 464 464 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1385458554 15q25.2 15 82552481T> C null E G 465 465 missense 0.737 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1184269268 15q25.2 15 82549646G> T null P T 470 470 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs751188082 15q25.2 15 82549640C> T null V I 472 472 missense 0.99 probably damaging 0.11 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs990702450 15q25.2 15 82549629G> C null D E 475 475 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs936176471 15q25.2 15 82549631C> T null D N 475 475 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs752225468 15q25.2 15 82549628T> A null S C 476 476 missense 0.911 probably damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs759530064 15q25.2 15 82549615C> T null R Q 480 480 missense 0.005 benign 0.05 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1351988587 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82549616G> A null R W 480 480 missense 0.005 benign 0.07 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1165931299 15q25.2 15 82549611G> C null S R 481 481 missense 0.316 benign 0.12 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs776300873 15q25.2 15 82549610G> C null P A 482 482 missense 0.879 possibly damaging 0.12 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1321247240 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82549609G> A null P L 482 482 missense 0.943 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs200654665 15q25.2 15 82549604G> C null Q E 484 484 missense 0.979 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes rs186381324 15q25.2 15 82549599C> G null R S 485 485 missense 0.996 probably damaging 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1441282187 15q25.2 15 82549585C> T null R K 490 490 missense 0.001 benign 1.0 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375054209 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82549582G> A null T M 491 491 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs768842586 15q25.2 15 82549580C> A null V L 492 492 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1362885918 15q25.2 15 82549574C> T null V I 494 494 missense 0.99 probably damaging 0.05 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs775536915 15q25.2 15 82549554C> T null M I 500 500 missense 0.018 benign 0.06 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs1269633995 15q25.2 15 82549522T> C null N S 511 511 missense 0.229 benign 0.03 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202224849 15q25.2 15 82549520C> T null D N 512 512 2.0E-4 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1468206938 15q25.2 15 82549501A> G null V A 518 518 missense 0.173 benign 0.06 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1255084612 15q25.2 15 82549502C> G null V L 518 518 missense 0.07 benign 0.15 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs752310882 15q25.2 15 82549498T> C null Y C 519 519 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375678414 15q25.2 15 82549493C> T null G R 521 521 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375678414 15q25.2 15 82549493C> A null G W 521 521 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs540987926 15q25.2 15 82549473G> T null H Q 527 527 2.0E-4 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1279905913 15q25.2 15 82547217T> C null N D 539 539 missense 0.991 probably damaging 0.04 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs1049298382 15q25.2 15 82547216T> C null N S 539 539 missense 0.987 probably damaging 0.5 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs200803573 15q25.2 15 82547207C> T null R Q 542 542 missense 0.217 benign 0.36 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1244049673 15q25.2 15 82547199G> C null L V 545 545 missense 0.802 possibly damaging 0.08 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs761026665 15q25.2 15 82547190C> T null V I 548 548 missense 0.987 probably damaging 0.38 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP rs373749169 15q25.2 15 82547184C> T null A T 550 550 missense 0.996 probably damaging 0.02 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs747825334 15q25.2 15 82547165T> C null K R 556 556 missense 0.041 benign 0.15 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778756628 15q25.2 15 82547162G> T null T N 557 557 missense 0.996 probably damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs779375273 15q25.2 15 82547151T> A null T S 561 561 missense 0.028 benign 0.17 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs748826949 15q25.2 15 82546521C> T null V I 564 564 missense 0.987 probably damaging 0.13 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ESP,ExAC,gnomAD rs370005577 15q25.2 15 82546516C> A null Q H 565 565 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs768893179 15q25.2 15 82546483A> C null H Q 576 576 missense 0.001 benign 0.93 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c gnomAD rs771288550 15q25.2 15 82546476T> C null S G 579 579 missense 0.121 benign 0.36 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777377028 15q25.2 15 82546475C> A null S I 579 579 missense 0.173 benign 0.12 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777377028 15q25.2 15 82546475C> T null S N 579 579 missense 0.006 benign 0.41 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777377028 15q25.2 15 82546475C> G null S T 579 579 missense 0.163 benign 0.24 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed,gnomAD rs893878284 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82546467G> A null P S 582 582 missense 0.998 probably damaging 0.1 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1051621864 15q25.2 15 82546456G> T null F L 585 585 missense 0.979 probably damaging 0.03 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c ExAC,gnomAD rs756309932 15q25.2 15 82546445T> C null D G 589 589 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1230000886 15q25.2 15 82544693T> G null K Q 594 594 missense 0.996 probably damaging 0.33 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1312415747 15q25.2 15 82544681G> A null R W 598 598 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1030220938 15q25.2 15 82544662C> T null R Q 604 604 missense 0.005 benign 1.0 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1291836785 15q25.2 15 82544653A> G null M T 607 607 missense 0.003 benign 0.31 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1214902859 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82544642G> A null R C 611 611 missense 0.827 possibly damaging 0.01 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1242647902 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82544641C> T null R H 611 611 missense 0.535 possibly damaging 0.05 tolerated 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c Ensembl rs1567161437 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q25.2 15 82544621G> A null R W 618 618 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs897450666 15q25.2 15 82544603C> G null D H 624 624 missense 0.621 possibly damaging 0.0 deleterious - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs897450666 15q25.2 15 82544603C> T null D N 624 624 missense 0.009 benign 0.06 tolerated - low confidence 0 A0A024R214 CPEB1 Cytoplasmic polyadenylation element binding protein 1, isoform CRA_c TOPMed rs1383593068 15q25.2 15 82544599G> A null S F 625 625 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs139750142 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; impact. 11q23.1 11 111910446G> A null R C 2 2 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000691763 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,gnomAD rs987496548 11q23.1 11 111910445C> T null R H 2 2 missense 0.999 probably damaging 0.05 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139750142 11q23.1 11 111910446G> T null R S 2 2 2.0E-4 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs17850134 11q23.1 11 111910438C> A null E D 4 4 missense 0.007 benign 1.0 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165418 11q23.1 11 111910440C> T null E K 4 4 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,TOPMed,gnomAD rs542645787 11q23.1 11 111910434C> G null D H 6 6 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165409 11q23.1 11 111910427A> G null F S 8 8 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782223550 11q23.1 11 111910397G> A null S F 18 18 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs797044515 11q23.1 11 111910386G> A null L F 22 22 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,gnomAD rs1185490043 11q23.1 11 111910381T> G null K N 23 23 missense 0.005 benign 0.35 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,TOPMed,gnomAD rs201474470 11q23.1 11 111910382T> C null K R 23 23 2.0E-4 missense 0.001 benign 0.05 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,TOPMed,gnomAD rs201474470 11q23.1 11 111910382T> G null K T 23 23 2.0E-4 missense 0.015 benign 0.78 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,dbSNP,gnomAD rs1256600488 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910376T> C null K R 25 25 missense 0.975 probably damaging 0.03 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000797026 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs547282752 11q23.1 11 111910374C> A null V L 26 26 missense 0.157 benign 0.03 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs547282752 11q23.1 11 111910374C> T null V M 26 26 missense 0.983 probably damaging 0.03 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,dbSNP,gnomAD rs553865461 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910364T> C null D G 29 29 2.0E-4 missense 0.663 possibly damaging 0.36 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000820487 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782452521 11q23.1 11 111910362C> T null V M 30 30 missense 0.034 benign 0.22 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs1168775790 11q23.1 11 111910358A> G null I T 31 31 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,dbSNP rs1029108489 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111910350G> T null H N 34 34 missense 0.841 possibly damaging 0.01 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000702354 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782728956 11q23.1 11 111910333C> A null E D 39 39 missense 0.099 benign 0.09 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,NCI-TCGA,gnomAD rs782520163 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11q23.1 11 111910332G> A null R C 40 40 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,gnomAD rs144451841 11q23.1 11 111910331C> T null R H 40 40 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,dbSNP,gnomAD rs144451841 [ClinVar]: Congenital cataract 11q23.1 11 111910331C> A null R L 40 40 2.0E-4 missense 1.0 probably damaging 0.03 deleterious 0 Congenital cataract ClinVar:RCV000203405 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,dbSNP rs886039099 11q23.1 11 111910327C> G null Q H 41 41 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165258 11q23.1 11 111908965A> C null D E 42 42 missense 0.488 possibly damaging 0.02 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs1114167341 [ClinVar]: Familial restrictive cardiomyopathy 1, [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: probable disease-associated variant found in patients with restrictive cardiomyopathy; reduces CRYAB and DES localization at the Z-bands and the intercalated disk in the myocardium; cytoplasmic aggregations of CRYAB and DES pubmed:28493373 11q23.1 11 111908966T> C null D G 42 42 missense 0.994 probably damaging 0.02 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000655020 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs1114167341 [ClinVar]: Familial restrictive cardiomyopathy 1, [ClinVar]: Dilated cardiomyopathy 1II, [UniProt]: probable disease-associated variant found in patients with restrictive cardiomyopathy; reduces CRYAB and DES localization at the Z-bands and the intercalated disk in the myocardium; cytoplasmic aggregations of CRYAB and DES pubmed:28493373 11q23.1 11 111908966T> C null D G 42 42 missense 0.994 probably damaging 0.02 deleterious 0 Familial restrictive cardiomyopathy 1 (RCM1) Familial restrictive cardiomyopathy is a genetic form of heart disease. MIM:115210 ClinVar:RCV000491328 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP,gnomAD rs387907339 [ClinVar]: Alpha-B crystallinopathy pubmed:21920752 pubmed:21920752 11q23.1 11 111908967C> G null D H 42 42 missense 0.997 probably damaging 0.0 deleterious 0 Alpha-B crystallinopathy (MFM2) MIM:608810 pubmed:20301672,ClinVar:RCV000034843 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP,gnomAD rs387907339 [ClinVar]: Alpha-B crystallinopathy pubmed:21920752 pubmed:21920752 11q23.1 11 111908967C> G null D H 42 42 missense 0.997 probably damaging 0.0 deleterious 0 Myopathy, myofibrillar, 2 (MFM2) A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. MIM:608810 pubmed:12601044,pubmed:14681890,pubmed:21920752,pubmed:9731540 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs387907339 11q23.1 11 111908967C> A null D Y 42 42 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165257 11q23.1 11 111908953G> T null F L 46 46 missense 0.139 benign 0.08 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs281865142 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Alpha-B crystallinopathy 11q23.1 11 111908949de l null S null 48 48 frameshift 0 Alpha-B crystallinopathy (MFM2) MIM:608810 pubmed:20301672,ClinVar:RCV000032215 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs281865142 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Alpha-B crystallinopathy 11q23.1 11 111908949de l null S null 48 48 frameshift 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000694268 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165252 11q23.1 11 111908941C> G null E D 50 50 missense 0.089 benign 0.06 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs876657766 11q23.1 11 111908939A> G null F S 51 51 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs104894201 [UniProt]: decreased interactions with wild-type CRYAA and CRYAB but increased interactions with wild-type CRYBB2 and CRYGC; cytoplasmic aggregation, [ClinVar]: Alpha-B crystallinopathy pubmed:12601044,pubmed:28493373,pubmed:9731540 pubmed:12601044,pubmed:12812987,pubmed:16483541,pubmed:26542570,pubmed:570292,pubmed:9731540 11q23.1 11 111908934T> C null R G 53 53 missense 1.0 probably damaging 0.0 deleterious 0 Alpha-B crystallinopathy (MFM2) MIM:608810 pubmed:20301672,ClinVar:RCV000018465 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs104894201 [UniProt]: decreased interactions with wild-type CRYAA and CRYAB but increased interactions with wild-type CRYBB2 and CRYGC; cytoplasmic aggregation, [ClinVar]: Alpha-B crystallinopathy pubmed:12601044,pubmed:28493373,pubmed:9731540 pubmed:12601044,pubmed:12812987,pubmed:16483541,pubmed:26542570,pubmed:570292,pubmed:9731540 11q23.1 11 111908934T> C null R G 53 53 missense 1.0 probably damaging 0.0 deleterious 0 Myopathy, myofibrillar, 2 (MFM2) A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. MIM:608810 pubmed:12601044,pubmed:14681890,pubmed:21920752,pubmed:9731540 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs781915800 11q23.1 11 111908930T> C null K R 54 54 missense 0.025 benign 1.0 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs782206421 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22197931,cosmic_study:389 11q23.1 11 111908924C> T null R Q 56 56 missense 0.802 possibly damaging 0.55 tolerated 1 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs534473091 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; impact. 11q23.1 11 111908925G> A null R W 56 56 missense 0.992 probably damaging 0.13 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000813845 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs782635893 11q23.1 11 111908920G> C null I M 57 57 missense 0.71 possibly damaging 0.03 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs876657444 11q23.1 11 111908922T> C null I V 57 57 missense 0.009 benign 0.12 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374661019 11q23.1 11 111908919G> A null P S 58 58 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs1286547434 11q23.1 11 111908911A> C null D E 60 60 missense 0.206 benign 0.04 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs899795789 11q23.1 11 111908906T> C null D G 62 62 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs1327383479 11q23.1 11 111908907C> T null D N 62 62 missense 0.814 possibly damaging 0.18 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs1566402887 11q23.1 11 111908903G> A null P L 63 63 missense 0.948 probably damaging 0.31 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs1208156922 11q23.1 11 111908901G> C null L V 64 64 missense 0.136 benign 0.22 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782672409 11q23.1 11 111908895T> C null I V 66 66 missense 0.276 benign 1.0 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165243 11q23.1 11 111908888G> T null S * 68 68 stop gained 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,ExAC,TOPMed,gnomAD rs371079119 11q23.1 11 111908886A> G null S P 69 69 missense 0.938 probably damaging 0.01 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,ExAC,TOPMed,dbSNP,gnomAD rs371079119 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Cardiomyopathy 11q23.1 11 111908886A> T null S T 69 69 missense 0.028 benign 0.2 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770311 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,ExAC,TOPMed,dbSNP,gnomAD rs371079119 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Cardiomyopathy 11q23.1 11 111908886A> T null S T 69 69 missense 0.028 benign 0.2 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000537120 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs387907336 [ClinVar]: Cataract 16, multiple types pubmed:16505043 11q23.1 11 111908874C> T null D N 73 73 missense 0.992 probably damaging 0.01 deleterious 0 Cataract 16, multiple types (CTRCT16) MIM:613763 ClinVar:RCV000034840 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs782629197 11q23.1 11 111908865G> A null L F 76 76 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs782629197 11q23.1 11 111908865G> C null L V 76 76 missense 0.976 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,gnomAD rs1246649844 11q23.1 11 111908858A> T null V E 78 78 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs781852612 11q23.1 11 111908859C> G null V L 78 78 missense 0.007 benign 0.17 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs781852612 11q23.1 11 111908859C> T null V M 78 78 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165234 11q23.1 11 111908855T> A null N I 79 79 missense 0.382 benign 0.1 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165234 11q23.1 11 111908855T> C null N S 79 79 missense 0.0 benign 0.48 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165235 11q23.1 11 111908856T> A null N Y 79 79 missense 0.484 possibly damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782799100 11q23.1 11 111908852C> T null G E 80 80 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782799100 11q23.1 11 111908852C> A null G V 80 80 missense 0.779 possibly damaging 0.03 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs1566402656 [ClinVar]: Cataract 16, multiple types pubmed:11577372 11q23.1 11 111908844de l null K null 83 83 frameshift 0 Cataract 16, multiple types (CTRCT16) MIM:613763 ClinVar:RCV000018466 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,dbSNP rs104894202 [ClinVar]: Alpha-B crystallinopathy pubmed:14681890 11q23.1 11 111908841G> A null Q * 84 84 stop gained 0 Alpha-B crystallinopathy (MFM2) MIM:608810 pubmed:20301672,ClinVar:RCV000018468 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs104894202 11q23.1 11 111908841G> C null Q E 84 84 missense 0.455 possibly damaging 0.93 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,NCI-TCGA,gnomAD rs782145127 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q23.1 11 111908840T> C null Q R 84 84 missense 0.414 benign 0.43 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed,gnomAD rs1160682106 11q23.1 11 111908835A> C null S A 86 86 missense 0.005 benign 0.61 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs868980796 [ClinVar]: Hypertrophic cardiomyopathy 11q23.1 11 111908834G> A null S F 86 86 missense 0.644 possibly damaging 0.02 deleterious 0 Hypertrophic cardiomyopathy ClinVar:RCV000768500 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl,dbSNP rs1555165228 [ClinVar]: Dilated cardiomyopathy 1II 11q23.1 11 111908831C> T null G D 87 87 missense 0.941 probably damaging 0.53 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000547444 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Congenital cataract, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Cardiomyopathy, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832C> T null G S 87 87 2.0E-4 missense 0.088 benign 0.72 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV001170406 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Congenital cataract, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Cardiomyopathy, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832C> T null G S 87 87 2.0E-4 missense 0.088 benign 0.72 tolerated 0 Cardiomyopathy, dilated 1II (CMD1II) A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. MIM:615184 pubmed:16483541,pubmed:16793013 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Congenital cataract, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Cardiomyopathy, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832C> T null G S 87 87 2.0E-4 missense 0.088 benign 0.72 tolerated 0 Cataract 16, multiple types (CTRCT16) MIM:613763 ClinVar:RCV000297606 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Congenital cataract, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Cardiomyopathy, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832C> T null G S 87 87 2.0E-4 missense 0.088 benign 0.72 tolerated 0 Congenital cataract ClinVar:RCV000203359 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Congenital cataract, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Cardiomyopathy, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832C> T null G S 87 87 2.0E-4 missense 0.088 benign 0.72 tolerated 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000034839 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Congenital cataract, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Cardiomyopathy, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832C> T null G S 87 87 2.0E-4 missense 0.088 benign 0.72 tolerated 0 Fatal infantile hypertonic myofibrillar myopathy MIM:613869 pubmed:20301672,ClinVar:RCV000398508 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Congenital cataract, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Cardiomyopathy, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832C> T null G S 87 87 2.0E-4 missense 0.088 benign 0.72 tolerated 0 Hypertrophic cardiomyopathy ClinVar:RCV000852658 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Congenital cataract, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Cardiomyopathy, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832C> T null G S 87 87 2.0E-4 missense 0.088 benign 0.72 tolerated 0 Myofibrillar Myopathy, Dominant ClinVar:RCV000352488 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150516929 [ClinVar]: Dilated cardiomyopathy 1II, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Congenital cataract, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Cardiomyopathy, [ClinVar]: Myofibrillar Myopathy, Dominant pubmed:16793013 pubmed:16793013 11q23.1 11 111908832C> T null G S 87 87 2.0E-4 missense 0.088 benign 0.72 tolerated 0 Primary familial hypertrophic cardiomyopathy (HCM) MIM:PS192600 pubmed:14607462,pubmed:20301725,pubmed:21810866,pubmed:25173338,ClinVar:RCV000157153 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs1566402514 [ClinVar]: Alpha-B crystallinopathy pubmed:14681890 11q23.1 11 111908827_111908828de l null P null 88 88 frameshift 0 Alpha-B crystallinopathy (MFM2) MIM:608810 pubmed:20301672,ClinVar:RCV000018467 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165227 11q23.1 11 111908826C> T null E K 89 89 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs374169381 NCI-TCGA Cosmic [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q23.1 11 111908823G> A null R C 90 90 missense 0.508 possibly damaging 0.01 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000794223 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs141638421 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:16483541 pubmed:16483541 11q23.1 11 111908822C> T null R H 90 90 2.0E-4 missense 0.986 probably damaging 0.01 deleterious 0 Cardiomyopathy, dilated 1II (CMD1II) A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. MIM:615184 pubmed:16483541,pubmed:16793013 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs141638421 [ClinVar]: Dilated cardiomyopathy 1II, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:16483541 pubmed:16483541 11q23.1 11 111908822C> T null R H 90 90 2.0E-4 missense 0.986 probably damaging 0.01 deleterious 0 Dilated cardiomyopathy 1II (CMD1II) MIM:615184 ClinVar:RCV000034838 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs907356354 11q23.1 11 111908820T> G null T P 91 91 missense 0.026 benign 0.35 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165225 11q23.1 11 111908817T> G null I L 92 92 missense 0.94 probably damaging 0.01 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,gnomAD rs782115863 11q23.1 11 111908816A> G null I T 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Alpha-B crystallinopathy 11q23.1 11 111908810A> G null I T 94 94 missense 0 Alpha-B crystallinopathy (MFM2) MIM:608810 pubmed:20301672,ClinVar:RCV001103196 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Alpha-B crystallinopathy 11q23.1 11 111908810A> G null I T 94 94 missense 0 Cataract 16, multiple types (CTRCT16) MIM:613763 ClinVar:RCV001105110 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Alpha-B crystallinopathy 11q23.1 11 111908810A> G null I T 94 94 missense 0 Fatal infantile hypertonic myofibrillar myopathy MIM:613869 pubmed:20301672,ClinVar:RCV001103197 A0A024R3B9 CRYAB Alpha-crystallin B chain dbSNP rs1592506005 [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Fatal infantile hypertonic myofibrillar myopathy, [ClinVar]: Cataract 16, multiple types, [ClinVar]: Alpha-B crystallinopathy 11q23.1 11 111908810A> G null I T 94 94 missense 0 Hypertrophic cardiomyopathy ClinVar:RCV000999592 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165224 11q23.1 11 111908811T> C null I V 94 94 missense 0.047 benign 0.37 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,TOPMed,gnomAD rs199861008 11q23.1 11 111908807G> A null T I 95 95 missense 0.684 possibly damaging 0.14 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs186242388 11q23.1 11 111908805G> A null R C 96 96 2.0E-4 missense 0.21 benign 0.15 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ExAC,NCI-TCGA,TOPMed,gnomAD rs782207078 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q23.1 11 111908804C> T null R H 96 96 missense 0.952 probably damaging 0.18 tolerated 1 A0A024R3B9 CRYAB Alpha-crystallin B chain TOPMed rs1348837968 11q23.1 11 111908799C> T null E K 98 98 missense 0.488 possibly damaging 0.48 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain ESP,NCI-TCGA,TOPMed,dbSNP,gnomAD rs370803064 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy cosmic_study:376 11q23.1 11 111908781C> T null A T 104 104 missense 0.014 benign 0.29 tolerated 1 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770310 A0A024R3B9 CRYAB Alpha-crystallin B chain gnomAD rs1555165218 11q23.1 11 111908777G> T null A D 105 105 missense 0.045 benign 0.17 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs11549441 11q23.1 11 111908778C> G null A P 105 105 missense 0.111 benign 0.1 tolerated 0 A0A024R3B9 CRYAB Alpha-crystallin B chain Ensembl rs1801966 11q23.1 11 111908766A> T null * K 109 109 stop lost 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1026084418 11q24.1 11 123577477G> A null G D 5 5 missense 0.89 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1026084418 11q24.1 11 123577477G> T null G V 5 5 missense 0.945 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs748022861 11q24.1 11 123577482G> C null D H 7 7 missense 0.894 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs748022861 11q24.1 11 123577482G> T null D Y 7 7 missense 0.945 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1247125379 11q24.1 11 123577486A> C null H P 8 8 missense 0.999 probably damaging 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1478882645 11q24.1 11 123577489C> G null S C 9 9 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1435538267 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123577492C> T null S L 10 10 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC rs777548798 11q24.1 11 123577491T> A null S T 10 10 missense 0.992 probably damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs770509019 11q24.1 11 123577496C> A null D E 11 11 missense 0.997 probably damaging 0.85 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1466228954 11q24.1 11 123577495A> T null D V 11 11 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs773851458 11q24.1 11 123577501C> T null S F 13 13 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs2276409 11q24.1 11 123577503C> T null P S 14 14 missense 0.999 probably damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1275930227 11q24.1 11 123577510C> A null T K 16 16 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC rs761144627 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 11q24.1 11 123577513C> T null P L 17 17 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC rs761144627 11q24.1 11 123577513C> A null P Q 17 17 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1271474946 11q24.1 11 123577522G> A null G D 20 20 missense 0.946 probably damaging 0.23 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1218824523 11q24.1 11 123577521G> A null G S 20 20 missense 0.746 possibly damaging 0.62 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs921395364 11q24.1 11 123577524G> T null V L 21 21 missense 0.535 possibly damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs921395364 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 11q24.1 11 123577524G> A null V M 21 21 missense 0.919 probably damaging 0.02 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1209232507 11q24.1 11 123577527C> A null Q K 22 22 missense 0.989 probably damaging 0.24 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1290422654 11q24.1 11 123577528A> G null Q R 22 22 missense 0.992 probably damaging 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs764365722 11q24.1 11 123577531G> A null R H 23 23 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs764365722 11q24.1 11 123577531G> C null R P 23 23 missense 0.999 probably damaging 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1214117874 11q24.1 11 123577539T> C null S P 26 26 missense 0.998 probably damaging 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1163864464 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 11q24.1 11 123577551G> A null G S 30 30 missense 1.0 probably damaging 1.0 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1416519760 11q24.1 11 123577555G> T null R L 31 31 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1416519760 11q24.1 11 123577555G> A null R Q 31 31 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs750564920 11q24.1 11 123577554C> T null R W 31 31 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1297932736 11q24.1 11 123577561G> A null G D 33 33 missense 0.783 possibly damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs763079105 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123577560G> A null G S 33 33 missense 0.079 benign 0.52 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs868846413 11q24.1 11 123577564G> A null G D 34 34 missense 0.237 benign 0.27 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs767530052 11q24.1 11 123577563G> A null G S 34 34 missense 0.012 benign 0.95 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,gnomAD rs377168373 11q24.1 11 123584317C> A null S R 40 40 missense 0.998 probably damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369716573 11q24.1 11 123584331A> G null N S 45 45 missense 0.012 benign 0.55 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs763984941 11q24.1 11 123594094A> C null T P 50 50 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes rs570959026 11q24.1 11 123594110A> G null N S 55 55 2.0E-4 missense 0.998 probably damaging 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1322809783 11q24.1 11 123594117C> A null D E 57 57 missense 0.999 probably damaging 0.14 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs765007012 11q24.1 11 123594143C> T null P L 66 66 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs531490633 11q24.1 11 123594149C> T null T M 68 68 3.99E-4 missense 0.884 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP rs375080947 11q24.1 11 123594758G> C null D H 82 82 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1264166646 11q24.1 11 123594792A> C null E A 93 93 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1443514559 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123594801T> A null I N 96 96 missense 0.97 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs749660161 11q24.1 11 123594816A> T null N I 101 101 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1170206716 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123595951C> T null R C 112 112 missense 0.919 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1021191097 11q24.1 11 123595952G> A null R H 112 112 missense 0.944 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1021191097 11q24.1 11 123595952G> C null R P 112 112 missense 0.914 probably damaging 0.12 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1405181132 11q24.1 11 123595957A> G null K E 114 114 missense 0.741 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1480759321 11q24.1 11 123595958A> G null K R 114 114 missense 0.799 possibly damaging 0.05 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs758654739 11q24.1 11 123595963A> G null I V 116 116 missense 0.03 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1340791303 11q24.1 11 123595969T> G null S A 118 118 missense 0.197 benign 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1304116416 11q24.1 11 123595970C> T null S F 118 118 missense 0.027 benign 0.19 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565436059 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123595973T> C null M T 119 119 missense 0.287 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1406405547 11q24.1 11 123595972A> G null M V 119 119 missense 0.087 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs780201409 11q24.1 11 123595994G> A null R H 126 126 missense 0.955 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1430801211 11q24.1 11 123595996C> A null L I 127 127 missense 0.873 possibly damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1013518328 11q24.1 11 123596011A> C null I L 132 132 missense 0.024 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1033800528 11q24.1 11 123596035A> T null K * 140 140 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1047450644 11q24.1 11 123600477A> T null T S 144 144 missense 0.077 benign 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1233169320 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:375,cosmic_study:418 11q24.1 11 123600481C> T null S L 145 145 missense 0.703 possibly damaging 0.0 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs753231387 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123600489G> T null A S 148 148 missense 0.61 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs753231387 11q24.1 11 123600489G> A null A T 148 148 missense 0.072 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1207068677 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123600493G> A null R Q 149 149 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1351709340 11q24.1 11 123600492C> T null R W 149 149 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1444981884 11q24.1 11 123600501A> G null T A 152 152 missense 0.389 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs900414573 11q24.1 11 123600543G> C null E Q 166 166 missense 0.301 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1397025441 11q24.1 11 123603429C> G null L V 169 169 missense 0.046 benign 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs763377469 11q24.1 11 123603432T> G null C G 170 170 missense 0.209 benign 0.35 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs766719644 11q24.1 11 123603452C> G null H Q 176 176 missense 0.287 benign 0.14 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1227430707 11q24.1 11 123603465T> C null C R 181 181 missense 0.444 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs756116420 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123603477G> A null E K 185 185 missense 0.176 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,gnomAD rs564971872 11q24.1 11 123603501G> A null E K 193 193 2.0E-4 missense 0.049 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1373547245 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123603513C> T null P S 197 197 missense 0.786 possibly damaging 0.85 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs771458771 11q24.1 11 123603521C> G null D E 199 199 missense 0.017 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs769186696 11q24.1 11 123603524C> A null D E 200 200 missense 0.02 benign 0.36 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs769186696 11q24.1 11 123603524C> G null D E 200 200 missense 0.02 benign 0.36 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs747738090 11q24.1 11 123603522G> A null D N 200 200 missense 0.284 benign 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374293269 11q24.1 11 123603527C> A null D E 201 201 missense 0.358 benign 0.5 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs895281458 11q24.1 11 123603525G> A null D N 201 201 missense 0.642 possibly damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774716927 11q24.1 11 123603529T> G null F C 202 202 missense 0.882 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs766828280 11q24.1 11 123603528T> C null F L 202 202 missense 0.012 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs759793942 11q24.1 11 123603533C> G null N K 203 203 missense 0.135 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs767820521 11q24.1 11 123603534A> G null T A 204 204 missense 0.003 benign 0.37 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565448169 11q24.1 11 123603535C> T null T I 204 204 missense 0.079 benign 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs756273514 11q24.1 11 123603539G> T null M I 205 205 missense 0.094 benign 0.18 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs752857335 11q24.1 11 123603537A> T null M L 205 205 missense 0.003 benign 0.95 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1045479840 11q24.1 11 123603538T> G null M R 205 205 missense 0.211 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs752857335 [NCI-TCGA]: Variant assessed as Somatic; impact. 11q24.1 11 123603537A> G null M V 205 205 missense 0.097 benign 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1286717396 11q24.1 11 123605326T> A null C S 208 208 missense 0.999 probably damaging 0.64 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1049273508 11q24.1 11 123605334G> T null E D 210 210 missense 0.67 possibly damaging 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs766462983 11q24.1 11 123605336T> G null I S 211 211 missense 0.857 possibly damaging 0.16 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs766462983 11q24.1 11 123605336T> C null I T 211 211 missense 0.812 possibly damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs994687856 11q24.1 11 123605342T> A null V E 213 213 missense 0.543 possibly damaging 0.56 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs754862708 11q24.1 11 123605357T> C null V A 218 218 missense 0.011 benign 0.29 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs889307024 11q24.1 11 123605379C> G null S R 225 225 missense 0.025 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs752494131 11q24.1 11 123605381G> A null S N 226 226 missense 0.025 benign 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1455008458 11q24.1 11 123605383A> G null I V 227 227 missense 0.0 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114589175 11q24.1 11 123605400T> A null D E 232 232 0.005391 missense 0.009 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1349732962 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123605417C> T null P L 238 238 missense 0.287 benign 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1307248266 11q24.1 11 123605416C> T null P S 238 238 missense 0.02 benign 0.68 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs770423087 11q24.1 11 123605429T> C null I T 242 242 missense 0.06 benign 0.41 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs779453804 11q24.1 11 123605432C> T null T I 243 243 missense 0.05 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1472430563 11q24.1 11 123605435A> T null N I 244 244 missense 0.251 benign 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1205423823 11q24.1 11 123605441C> T null T I 246 246 missense 0.255 benign 0.13 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1480183400 11q24.1 11 123605443C> G null L V 247 247 missense 0.028 benign 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140366389 11q24.1 11 123605450C> G null S C 249 249 3.99E-4 missense 0.89 possibly damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1479518380 11q24.1 11 123605452A> C null T P 250 250 missense 0.018 benign 0.35 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs769050280 11q24.1 11 123605458A> G null S G 252 252 missense 0.197 benign 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1354383551 11q24.1 11 123605464G> A null E K 254 254 missense 0.127 benign 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1443363619 11q24.1 11 123605467G> A null A T 255 255 missense 0.366 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1282107937 11q24.1 11 123605474T> C null V A 257 257 missense 0.0 benign 0.61 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs113672412 11q24.1 11 123605473G> A null V I 257 257 missense 0.0 benign 0.68 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs759398423 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123605477C> T null S L 258 258 missense 0.007 benign 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs759398423 11q24.1 11 123605477C> G null S W 258 258 missense 0.894 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs748398230 11q24.1 11 123606616G> A null G E 261 261 missense 0.982 probably damaging 0.49 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1453444317 11q24.1 11 123606619T> C null L P 262 262 missense 0.394 benign 0.27 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1476036305 11q24.1 11 123606622C> T null P L 263 263 missense 0.0 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs373808855 11q24.1 11 123606621C> T null P S 263 263 missense 0.06 benign 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs373808855 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606621C> A null P T 263 263 missense 0.06 benign 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1030348550 11q24.1 11 123606625T> C null L P 264 264 missense 0.0 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1383849253 11q24.1 11 123606627G> A null E K 265 265 missense 0.547 possibly damaging 0.19 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1424407150 11q24.1 11 123606635G> C null E D 267 267 missense 0.012 benign 0.42 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs771946953 11q24.1 11 123606636G> A null A T 268 268 missense 0.001 benign 0.64 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs532856454 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606637C> T null A V 268 268 3.99E-4 missense 0.0 benign 0.35 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1325291798 11q24.1 11 123606642G> A null E K 270 270 missense 0.06 benign 0.54 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs753560680 11q24.1 11 123606646G> A null G E 271 271 missense 0.003 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs756933883 11q24.1 11 123606650C> G null D E 272 272 missense 0.007 benign 0.32 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1380375088 11q24.1 11 123606648G> T null D Y 272 272 missense 0.741 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs757894340 11q24.1 11 123606652G> A null G E 273 273 missense 0.02 benign 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs749953166 11q24.1 11 123606651G> A null G R 273 273 missense 0.0 benign 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs757894340 11q24.1 11 123606652G> T null G V 273 273 missense 0.012 benign 0.36 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs747509131 11q24.1 11 123606655C> T null S F 274 274 missense 0.301 benign 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs747509131 11q24.1 11 123606655C> A null S Y 274 274 missense 0.182 benign 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1447653328 11q24.1 11 123606658T> C null L P 275 275 missense 0.394 benign 0.35 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs149488546 11q24.1 11 123606664A> G null K R 277 277 5.99E-4 missense 0.007 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs267602745 11q24.1 11 123606666G> A null E K 278 278 missense 0.236 benign 0.33 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1046775434 11q24.1 11 123606670T> C null L P 279 279 missense 0.753 possibly damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1046775434 11q24.1 11 123606670T> G null L R 279 279 missense 0.599 possibly damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375511617 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606672G> A null A T 280 280 missense 0.005 benign 0.68 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191981781 cosmic curated [Cosmic]: thyroid cosmic_study:589 11q24.1 11 123606675A> G null I V 281 281 0.001797 missense 0.055 benign 0.48 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114469707 11q24.1 11 123606682A> G null N S 283 283 0.001597 missense 0.0 benign 0.81 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114469707 11q24.1 11 123606682A> C null N T 283 283 0.001597 missense 0.06 benign 0.55 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376872587 11q24.1 11 123606684A> C null I L 284 284 missense 0.003 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376872587 11q24.1 11 123606684A> G null I V 284 284 missense 0.007 benign 0.57 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1322519595 11q24.1 11 123606689G> T null M I 285 285 missense 0.0 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,gnomAD rs371265661 11q24.1 11 123606687A> G null M V 285 285 2.0E-4 missense 0.0 benign 0.3 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1403860607 11q24.1 11 123606690G> A null G R 286 286 missense 0.251 benign 0.29 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1451766272 11q24.1 11 123606693G> A null E K 287 287 missense 0.127 benign 0.27 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774236612 11q24.1 11 123606700T> C null I T 289 289 missense 0.003 benign 0.72 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,TOPMed,gnomAD rs370508125 11q24.1 11 123606704G> T null E D 290 290 missense 0.003 benign 0.52 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs76756402 11q24.1 11 123606705A> C null M L 291 291 missense 0.0 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs76756402 11q24.1 11 123606705A> G null M V 291 291 missense 0.0 benign 0.32 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1279173737 11q24.1 11 123606708A> T null I F 292 292 missense 0.119 benign 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs776432140 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606711G> A null A T 293 293 missense 0.001 benign 0.48 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1432159441 11q24.1 11 123606714C> T null P S 294 294 missense 0.959 probably damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1261292885 11q24.1 11 123606717G> A null V M 295 295 missense 0.935 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs761575476 11q24.1 11 123606726C> T null P S 298 298 missense 0.941 probably damaging 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs764839388 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606730C> T null S L 299 299 missense 0.338 benign 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1258706185 11q24.1 11 123606739T> A null F Y 302 302 missense 0.761 possibly damaging 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1029451265 11q24.1 11 123606741A> G null N D 303 303 missense 0.755 possibly damaging 0.41 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377539345 11q24.1 11 123606742A> T null N I 303 303 missense 0.847 possibly damaging 0.31 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377539345 11q24.1 11 123606742A> G null N S 303 303 missense 0.511 possibly damaging 0.86 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1362832679 11q24.1 11 123606745A> C null D A 304 304 missense 0.999 probably damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1472693993 11q24.1 11 123606746C> A null D E 304 304 missense 0.999 probably damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1160778334 11q24.1 11 123606747A> G null N D 305 305 missense 0.998 probably damaging 0.45 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1426518441 11q24.1 11 123606748A> G null N S 305 305 missense 0.998 probably damaging 0.4 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs866068201 11q24.1 11 123606754A> G null D G 307 307 missense 0.874 possibly damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1317231120 11q24.1 11 123606758C> G null I M 308 308 missense 0.436 benign 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1389438565 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606772G> A null S N 313 313 missense 0.759 possibly damaging 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs751049869 11q24.1 11 123606783G> A null D N 317 317 missense 0.314 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs867480430 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606789C> A null H N 319 319 missense 0.855 possibly damaging 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs755577223 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123606792G> A null D N 320 320 missense 0.924 probably damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1183869073 11q24.1 11 123608661G> A null E K 323 323 missense 0.041 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200540342 11q24.1 11 123608664G> A null V I 324 324 missense 0.806 possibly damaging 0.13 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1160028716 11q24.1 11 123608667C> T null Q * 325 325 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1339548414 11q24.1 11 123608668A> C null Q P 325 325 missense 0.791 possibly damaging 0.23 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373699394 11q24.1 11 123608677A> G null Y C 328 328 2.0E-4 missense 0.967 probably damaging 0.29 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373699394 11q24.1 11 123608677A> T null Y F 328 328 2.0E-4 missense 0.073 benign 0.64 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1468703173 11q24.1 11 123608679G> A null E K 329 329 missense 0.028 benign 0.47 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1450603005 11q24.1 11 123608695G> A null R Q 334 334 missense 0.796 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs748832223 11q24.1 11 123608694C> T null R W 334 334 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1304266955 11q24.1 11 123608699G> C null Q H 335 335 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs750631307 11q24.1 11 123608703G> A null V M 337 337 missense 0.014 benign 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs758559482 11q24.1 11 123608715T> C null F L 341 341 missense 0.024 benign 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs770386203 11q24.1 11 123608719A> G null N S 342 342 missense 0.003 benign 0.31 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1385913574 11q24.1 11 123608728T> C null V A 345 345 missense 0.997 probably damaging 0.64 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1262409324 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q24.1 11 123608727G> A null V M 345 345 missense 1.0 probably damaging 0.01 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,gnomAD rs367844387 11q24.1 11 123608740A> G null Y C 349 349 missense 0.967 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs777552496 11q24.1 11 123608744C> A null D E 350 350 missense 0.168 benign 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1183079679 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q24.1 11 123608745C> A null L I 351 351 missense 0.999 probably damaging 0.26 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes rs554684318 11q24.1 11 123608746T> G null L R 351 351 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1176395644 11q24.1 11 123608751T> C null F L 353 353 missense 0.995 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1426446805 11q24.1 11 123608754A> G null T A 354 354 missense 0.628 possibly damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1416610584 11q24.1 11 123608757A> G null N D 355 355 missense 0.0 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374919881 11q24.1 11 123608761C> T null S L 356 356 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1000145974 11q24.1 11 123608763C> T null P S 357 357 missense 0.236 benign 0.67 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs774227885 11q24.1 11 123608773G> A null R Q 360 360 missense 0.127 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs745517263 11q24.1 11 123608775G> A null D N 361 361 missense 0.999 probably damaging 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs745517263 11q24.1 11 123608775G> T null D Y 361 361 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1402522933 11q24.1 11 123608778T> A null F I 362 362 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs958828726 11q24.1 11 123608784G> A null E K 364 364 missense 0.998 probably damaging 0.23 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs760013778 11q24.1 11 123608787C> G null Q E 365 365 missense 0.599 possibly damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1368239562 11q24.1 11 123608789G> T null Q H 365 365 missense 0.94 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1012745976 11q24.1 11 123608791G> A null R Q 366 366 missense 0.999 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1024525756 cosmic curated [Cosmic]: prostate pubmed:22722839,cosmic_study:391 11q24.1 11 123608793C> T null R C 367 367 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,NCI-TCGA,TOPMed,gnomAD rs371994802 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123608794G> A null R H 367 367 missense 0.999 probably damaging 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs771808457 11q24.1 11 123608797T> A null F Y 368 368 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1450598849 11q24.1 11 123609798T> C null I T 371 371 missense 0.138 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs772568357 11q24.1 11 123609802C> G null I M 372 372 missense 0.336 benign 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs760097861 11q24.1 11 123609801T> A null I N 372 372 missense 0.251 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1383706222 11q24.1 11 123609800A> G null I V 372 372 missense 0.001 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1162276287 11q24.1 11 123609807A> T null H L 374 374 missense 0.171 benign 0.46 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1162276287 11q24.1 11 123609807A> G null H R 374 374 missense 0.127 benign 0.51 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1316181066 11q24.1 11 123609810C> A null P Q 375 375 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1406577746 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:21720365,cosmic_study:331 11q24.1 11 123609809C> T null P S 375 375 missense 0.999 probably damaging 0.1 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1435660703 11q24.1 11 123609814G> A null W * 376 376 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1204307633 11q24.1 11 123609815A> T null K * 377 377 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs918117659 11q24.1 11 123609816A> G null K R 377 377 missense 0.073 benign 0.3 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs776005482 11q24.1 11 123609821G> A null E K 379 379 missense 0.615 possibly damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs757192032 11q24.1 11 123609826G> T null E D 380 380 missense 0.003 benign 0.39 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1284979934 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123609830G> A null G R 382 382 missense 0.945 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs778881141 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123609851C> A null L I 389 389 missense 0.615 possibly damaging 0.18 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1465758519 11q24.1 11 123609858C> T null T I 391 391 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1211051190 11q24.1 11 123609860A> G null I V 392 392 missense 0.575 possibly damaging 0.12 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs771900117 11q24.1 11 123609864C> T null T I 393 393 missense 0.224 benign 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs771900117 11q24.1 11 123609864C> A null T N 393 393 missense 0.003 benign 0.13 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774973587 11q24.1 11 123609866C> T null L F 394 394 missense 0.981 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs760967017 11q24.1 11 123609876C> T null P L 397 397 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs746597994 11q24.1 11 123609881G> A null A T 399 399 missense 0.782 possibly damaging 0.14 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs201009984 11q24.1 11 123609890A> C null T P 402 402 missense 0.007 benign 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1457769586 11q24.1 11 123609893G> A null A T 403 403 missense 0.92 probably damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1161268135 11q24.1 11 123609897C> G null T S 404 404 missense 0.358 benign 0.6 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs764491640 11q24.1 11 123609899G> A null V I 405 405 missense 0.412 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1334522808 11q24.1 11 123609903G> A null R K 406 406 missense 0.06 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1297351943 11q24.1 11 123609909C> A null T K 408 408 missense 0.786 possibly damaging 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs774707387 11q24.1 11 123610209C> T null A V 414 414 missense 0.999 probably damaging 0.16 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1452688501 11q24.1 11 123610218A> G null E G 417 417 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1329911488 11q24.1 11 123610221G> A null S N 418 418 missense 0.864 possibly damaging 0.16 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1379208489 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 11q24.1 11 123610232G> A null V M 422 422 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1261074275 11q24.1 11 123610244G> A null E K 426 426 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1191880391 11q24.1 11 123610247G> A null V I 427 427 missense 0.997 probably damaging 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs752871193 11q24.1 11 123610258C> G null H Q 430 430 missense 0.058 benign 0.68 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs542866239 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:375 11q24.1 11 123610259G> A null D N 431 431 2.0E-4 missense 0.999 probably damaging 0.13 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs765331397 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123610262G> A null V M 432 432 missense 0.751 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10893053 11q24.1 11 123610273T> G null H Q 435 435 0.2418 missense 0.632 possibly damaging 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1387920256 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123610272A> G null H R 435 435 missense 0.471 possibly damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC rs758353236 11q24.1 11 123610281T> C null F S 438 438 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1325090049 11q24.1 11 123610283T> G null Y D 439 439 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1230075351 11q24.1 11 123610289A> G null I V 441 441 missense 0.005 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs779719653 11q24.1 11 123610302C> T null T M 445 445 missense 0.981 probably damaging 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs751330868 11q24.1 11 123610304C> A null L I 446 446 missense 0.792 possibly damaging 0.58 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1318330456 11q24.1 11 123610308C> T null T I 447 447 missense 0.68 possibly damaging 0.3 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1216696944 11q24.1 11 123610310C> T null R C 448 448 missense 0.999 probably damaging 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs573181030 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123610311G> A null R H 448 448 2.0E-4 missense 0.999 probably damaging 0.56 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1301307776 11q24.1 11 123610317C> T null A V 450 450 missense 0.836 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs780877280 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q24.1 11 123610320G> A null R Q 451 451 missense 0.486 possibly damaging 0.03 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1390495624 [NCI-TCGA]: Variant assessed as Somatic; impact. 11q24.1 11 123610319C> T null R W 451 451 missense 0.943 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1368020418 11q24.1 11 123610325A> G null K E 453 453 missense 0.81 possibly damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs755934019 11q24.1 11 123610329G> C null S T 454 454 missense 0.579 possibly damaging 0.44 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs747701660 11q24.1 11 123610332G> A null R Q 455 455 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1348079401 11q24.1 11 123612762G> A null V I 458 458 missense 0.028 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565465448 11q24.1 11 123612768A> T null T S 460 460 missense 0.998 probably damaging 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1331085646 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123612777C> T null R C 463 463 missense 0.969 probably damaging 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs748744678 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123612778G> A null R H 463 463 missense 0.955 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs748744678 11q24.1 11 123612778G> T null R L 463 463 missense 0.854 possibly damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs969160143 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q24.1 11 123612783C> T null R * 465 465 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs969160143 11q24.1 11 123612783C> G null R G 465 465 missense 0.716 possibly damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs779442588 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123612784G> A null R Q 465 465 missense 0.704 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1249789698 11q24.1 11 123612790A> G null Q R 467 467 missense 0.995 probably damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1272715913 11q24.1 11 123612799G> A null G E 470 470 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1247803361 11q24.1 11 123612811C> T null T M 474 474 missense 0.858 possibly damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC rs747239385 11q24.1 11 123612819G> A null E K 477 477 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs776874803 11q24.1 11 123612823A> G null K R 478 478 missense 0.998 probably damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs761933797 11q24.1 11 123612846G> A null D N 486 486 missense 0.836 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs766270069 11q24.1 11 123612851C> A null Y * 487 487 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1329532401 11q24.1 11 123612849T> C null Y H 487 487 missense 0.956 probably damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774345801 11q24.1 11 123612855C> T null R C 489 489 missense 0.944 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs538509009 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q24.1 11 123612856G> A null R H 489 489 3.99E-4 missense 0.062 benign 0.24 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs773095404 11q24.1 11 123613455A> G null E G 492 492 missense 0.856 possibly damaging 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1350417509 11q24.1 11 123613458G> A null S N 493 493 missense 0.001 benign 0.51 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,NCI-TCGA,gnomAD rs374304588 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11q24.1 11 123613460G> A null E K 494 494 missense 0.829 possibly damaging 0.02 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs62641672 11q24.1 11 123613467C> G null A G 496 496 missense 0.07 benign 0.27 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371958694 11q24.1 11 123613466G> A null A T 496 496 2.0E-4 missense 0.001 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369825461 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123613473C> T null T M 498 498 missense 0.01 benign 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs373054264 11q24.1 11 123613496A> T null M L 506 506 missense 0.0 benign 0.57 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1247862121 11q24.1 11 123613499C> A null H N 507 507 missense 0.855 possibly damaging 0.35 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs749861438 11q24.1 11 123613505C> A null Q K 509 509 missense 0.992 probably damaging 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs758997685 11q24.1 11 123613509C> G null S C 510 510 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1434749828 11q24.1 11 123613515A> C null K T 512 512 missense 0.72 possibly damaging 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs780686154 11q24.1 11 123613519G> T null E D 513 513 missense 0.017 benign 0.53 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1190590583 11q24.1 11 123613530A> G null K R 517 517 missense 0.998 probably damaging 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs946321091 11q24.1 11 123613535A> G null T A 519 519 missense 0.0 benign 0.49 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1202535829 11q24.1 11 123613536C> T null T I 519 519 missense 0.03 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs946321091 11q24.1 11 123613535A> T null T S 519 519 missense 0.0 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs769863986 11q24.1 11 123613538A> G null T A 520 520 missense 0.003 benign 0.98 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199604534 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q24.1 11 123613539C> T null T M 520 520 3.99E-4 missense 0.748 possibly damaging 0.12 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,NCI-TCGA,gnomAD rs368784935 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q24.1 11 123613545G> A null R Q 522 522 missense 0.999 probably damaging 0.04 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs772035485 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11q24.1 11 123613544C> T null R W 522 522 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1314374755 11q24.1 11 123613548G> A null R K 523 523 missense 0.995 probably damaging 0.09 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1357437283 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11q24.1 11 123613556C> T null R C 526 526 missense 0.999 probably damaging 0.02 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs768451724 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 11q24.1 11 123613557G> A null R H 526 526 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs768451724 11q24.1 11 123613557G> C null R P 526 526 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs894915963 11q24.1 11 123613563A> G null H R 528 528 missense 0.791 possibly damaging 0.36 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs776221454 11q24.1 11 123613565G> A null A T 529 529 missense 0.003 benign 0.37 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs749999499 11q24.1 11 123613569A> T null H L 530 530 missense 0.826 possibly damaging 0.3 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs764749144 11q24.1 11 123613568C> T null H Y 530 530 missense 0.855 possibly damaging 0.33 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs762523319 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123613575G> A null R Q 532 532 missense 0.999 probably damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1257670898 11q24.1 11 123613583C> A null H N 535 535 missense 0.997 probably damaging 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1179975438 11q24.1 11 123613586C> G null L V 536 536 missense 0.159 benign 0.5 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs755488531 11q24.1 11 123613595G> T null V L 539 539 missense 0.412 benign 0.72 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs755488531 11q24.1 11 123613595G> A null V M 539 539 missense 0.93 probably damaging 0.24 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1399794477 11q24.1 11 123613599T> G null M R 540 540 missense 0.138 benign 0.58 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1160090336 11q24.1 11 123613598A> G null M V 540 540 missense 0.0 benign 0.42 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,TOPMed rs373889123 11q24.1 11 123613601A> G null S G 541 541 missense 0.995 probably damaging 0.29 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1414178795 11q24.1 11 123613605C> T null P L 542 542 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1414178795 11q24.1 11 123613605C> G null P R 542 542 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,gnomAD rs557839467 11q24.1 11 123613607G> T null V F 543 543 2.0E-4 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,gnomAD rs557839467 11q24.1 11 123613607G> C null V L 543 543 2.0E-4 missense 0.997 probably damaging 0.36 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1452676344 11q24.1 11 123613610A> G null T A 544 544 missense 0.998 probably damaging 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs757313912 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123613614C> T null T M 545 545 missense 1.0 probably damaging 0.27 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs912435884 11q24.1 11 123613622G> A null D N 548 548 missense 0.999 probably damaging 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs912435884 11q24.1 11 123613622G> T null D Y 548 548 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs778905988 11q24.1 11 123613630T> A null D E 550 550 missense 0.003 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1484430156 11q24.1 11 123613628G> T null D Y 550 550 missense 0.809 possibly damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs575823580 11q24.1 11 123613632T> A null V E 551 551 2.0E-4 missense 0.301 benign 0.79 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1280558584 11q24.1 11 123613635G> A null G D 552 552 missense 0.339 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1199568658 11q24.1 11 123613634G> A null G S 552 552 missense 0.182 benign 0.41 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373969484 11q24.1 11 123613651T> G null H Q 557 557 missense 0.361 benign 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1202425504 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:24241536,cosmic_study:571 11q24.1 11 123613652G> A null V M 558 558 missense 0.771 possibly damaging 0.15 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377530501 11q24.1 11 123614745G> T null G V 560 560 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs773086921 11q24.1 11 123614760G> A null R Q 565 565 missense 0.478 possibly damaging 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs769465102 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 11q24.1 11 123614759C> T null R W 565 565 missense 0.88 possibly damaging 0.0 deleterious 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs748956557 11q24.1 11 123614764T> A null H Q 566 566 missense 0.602 possibly damaging 0.29 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370988688 11q24.1 11 123614769C> T null P L 568 568 missense 0.43 benign 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1214237041 11q24.1 11 123614773G> C null E D 569 569 missense 0.556 possibly damaging 0.23 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200711609 11q24.1 11 123614771G> A null E K 569 569 missense 0.277 benign 0.16 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565470137 11q24.1 11 123614775A> G null D G 570 570 missense 0.0 benign 0.39 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375570291 11q24.1 11 123614774G> A null D N 570 570 missense 0.127 benign 0.52 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375570291 11q24.1 11 123614774G> T null D Y 570 570 missense 0.575 possibly damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs761185461 11q24.1 11 123614778C> T null T I 571 571 missense 0.0 benign 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs754161430 11q24.1 11 123614781C> T null P L 572 572 missense 0.197 benign 0.1 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs754161430 11q24.1 11 123614781C> G null P R 572 572 missense 0.255 benign 0.24 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs757493522 11q24.1 11 123614783A> G null N D 573 573 missense 0.0 benign 0.28 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs534553453 11q24.1 11 123614786G> T null G C 574 574 0.002396 missense 0.877 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs534553453 11q24.1 11 123614786G> C null G R 574 574 0.002396 missense 0.041 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs534553453 11q24.1 11 123614786G> A null G S 574 574 0.002396 missense 0.028 benign 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs781251456 11q24.1 11 123614792C> T null H Y 576 576 missense 0.478 possibly damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201812830 11q24.1 11 123614799A> G null Q R 578 578 missense 0.197 benign 0.57 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374118769 11q24.1 11 123614803C> G null S R 579 579 3.99E-4 missense 0.056 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs770363124 11q24.1 11 123614804G> A null V M 580 580 missense 0.086 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1163327613 11q24.1 11 123614817T> C null L P 584 584 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1310036362 11q24.1 11 123614825A> G null I V 587 587 missense 0.358 benign 0.52 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs778697361 11q24.1 11 123614831T> A null C S 589 589 missense 0.038 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs745453238 11q24.1 11 123614834G> A null V I 590 590 missense 0.301 benign 0.38 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1443449023 11q24.1 11 123618697G> A null V M 592 592 missense 0.867 possibly damaging 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375428225 11q24.1 11 123618706G> T null V F 595 595 2.0E-4 missense 0.962 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375428225 11q24.1 11 123618706G> A null V I 595 595 2.0E-4 missense 0.163 benign 0.21 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs746558109 11q24.1 11 123618711C> G null I M 596 596 missense 0.023 benign 0.16 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1213612735 11q24.1 11 123618717C> A null N K 598 598 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs780611834 11q24.1 11 123618718A> G null M V 599 599 missense 0.0 benign 0.54 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1311437280 11q24.1 11 123618723G> A null M I 600 600 missense 0.007 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1006465006 11q24.1 11 123618730T> C null Y H 603 603 missense 0.899 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs770234763 11q24.1 11 123618734A> G null K R 604 604 missense 0.784 possibly damaging 0.44 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1291145842 11q24.1 11 123618736C> T null L F 605 605 missense 0.867 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs773476425 11q24.1 11 123618744G> A null M I 607 607 missense 0.014 benign 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1186594571 11q24.1 11 123618742A> G null M V 607 607 missense 0.0 benign 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs775623707 11q24.1 11 123618755C> T null T I 611 611 missense 0.203 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs775623707 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123618755C> G null T S 611 611 missense 0.026 benign 0.15 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs549560391 11q24.1 11 123618758C> T null T M 612 612 missense 0.938 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs760937431 11q24.1 11 123618760C> T null Q * 613 613 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1395001592 11q24.1 11 123618762G> T null Q H 613 613 missense 0.967 probably damaging 0.67 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1462850443 11q24.1 11 123618764C> G null T S 614 614 missense 0.031 benign 0.37 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1326089661 11q24.1 11 123618769A> G null T A 616 616 missense 0.511 possibly damaging 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1431670868 11q24.1 11 123618777G> A null W * 618 618 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1377048609 11q24.1 11 123618782G> A null G D 620 620 missense 0.969 probably damaging 0.32 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1272069804 11q24.1 11 123618781G> A null G S 620 620 missense 0.534 possibly damaging 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1478030113 11q24.1 11 123618788G> A null R K 622 622 missense 0.389 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs947730358 11q24.1 11 123618789G> C null R S 622 622 missense 0.575 possibly damaging 0.74 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs752169349 11q24.1 11 123618795A> C null Q H 624 624 missense 0.011 benign 0.22 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774631746 11q24.1 11 123618799A> G null R G 626 626 missense 0.209 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs774631746 11q24.1 11 123618799A> T null R W 626 626 missense 0.029 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs766011731 11q24.1 11 123619111C> T null P S 628 628 missense 0.999 probably damaging 0.05 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1377336512 11q24.1 11 123619122G> T null Q H 631 631 missense 0.888 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1408586274 11q24.1 11 123619124C> A null T K 632 632 missense 0.182 benign 0.58 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1328730446 11q24.1 11 123619131G> A null W * 634 634 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1336833794 11q24.1 11 123619132G> A null A T 635 635 missense 0.073 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs867595369 11q24.1 11 123619135C> A null Q K 636 636 missense 0.13 benign 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148264959 11q24.1 11 123619148C> T null S F 640 640 5.99E-4 missense 0.999 probably damaging 0.03 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs747612717 11q24.1 11 123619154A> T null Q L 642 642 missense 0.996 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,TOPMed,gnomAD rs747612717 11q24.1 11 123619154A> G null Q R 642 642 missense 0.995 probably damaging 0.4 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1193530640 11q24.1 11 123619160A> G null Y C 644 644 missense 0.967 probably damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565477915 11q24.1 11 123619162C> A null H N 645 645 missense 0.279 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370259530 cosmic curated [Cosmic]: NS pubmed:22622578,cosmic_study:388 11q24.1 11 123619165G> A null D N 646 646 missense 0.167 benign 0.17 tolerated 1 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs1565478028 11q24.1 11 123619205C> T null S L 659 659 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs969001195 11q24.1 11 123619211T> C null M T 661 661 missense 0.003 benign 0.65 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1365651947 11q24.1 11 123622508G> A null M I 666 666 missense 0.015 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1452238751 11q24.1 11 123622506A> G null M V 666 666 missense 0.001 benign 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs981266512 11q24.1 11 123622510A> G null K R 667 667 missense 0.009 benign 0.25 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1451461778 11q24.1 11 123622513A> G null D G 668 668 missense 0.14 benign 0.34 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs538908520 11q24.1 11 123622516C> A null S * 669 669 2.0E-4 stop gained 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs538908520 11q24.1 11 123622516C> T null S L 669 669 2.0E-4 missense 0.397 benign 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs780652358 11q24.1 11 123622521A> G null I V 671 671 missense 0.0 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1160222847 11q24.1 11 123622525A> T null N I 672 672 missense 0.356 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1382909997 11q24.1 11 123622526C> A null N K 672 672 missense 0.137 benign 1.0 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs4083122 11q24.1 11 123622527C> T null L F 673 673 missense 0.735 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs866062141 11q24.1 11 123622530C> A null Q K 674 674 missense 0.07 benign 0.07 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs1162502089 11q24.1 11 123622531A> G null Q R 674 674 missense 0.185 benign 0.08 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs772471280 [NCI-TCGA]: Variant assessed as Somatic; impact. 11q24.1 11 123622537G> A null G D 676 676 missense 0.526 possibly damaging 0.0 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1179974608 11q24.1 11 123622536G> A null G S 676 676 missense 0.037 benign 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1374311060 11q24.1 11 123622541C> G null I M 677 677 missense 0.667 possibly damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1415377499 11q24.1 11 123622546C> T null S F 679 679 missense 0.356 benign 0.42 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs780409933 11q24.1 11 123622548C> T null R C 680 680 missense 0.758 possibly damaging 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs780409933 11q24.1 11 123622548C> G null R G 680 680 missense 0.369 benign 0.05 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,gnomAD rs747151599 11q24.1 11 123622549G> A null R H 680 680 missense 0.605 possibly damaging 0.02 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368223750 11q24.1 11 123622558C> A null T K 683 683 5.99E-4 missense 0.035 benign 0.92 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368223750 11q24.1 11 123622558C> T null T M 683 683 5.99E-4 missense 0.263 benign 0.11 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368223750 11q24.1 11 123622558C> G null T R 683 683 5.99E-4 missense 0.005 benign 0.53 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370949646 11q24.1 11 123622561C> T null S L 684 684 missense 0.005 benign 0.17 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs1026118502 11q24.1 11 123622566A> G null S G 686 686 missense 0.087 benign 0.04 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs986113458 11q24.1 11 123622567G> A null S N 686 686 missense 0.127 benign 0.09 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed rs911438812 11q24.1 11 123622568T> A null S R 686 686 missense 0.007 benign 0.06 tolerated 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs774167637 [NCI-TCGA]: Variant assessed as Somatic; impact. 11q24.1 11 123622569G> A null E K 687 687 missense 0.341 benign 0.01 deleterious 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1480557545 11q24.1 11 123622579G> T null R M 690 690 missense 0.59 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs545662974 11q24.1 11 123622582A> G null N S 691 691 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1253101591 11q24.1 11 123622584C> T null R C 692 692 missense 0.501 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs901617580 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.1 11 123622585G> A null R H 692 692 missense 0.003 benign 0.09 tolerated - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a TOPMed,gnomAD rs901617580 11q24.1 11 123622585G> T null R L 692 692 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a Ensembl rs951873344 11q24.1 11 123622588A> G null Y C 693 693 missense 0.804 possibly damaging 0.0 deleterious - low confidence 0 A0A024R3M2 GRAMD1B HCG39893, isoform CRA_a gnomAD rs1434836714 11q24.1 11 123622595A> C null * C 695 695 stop lost 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs757875254 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241266860C> T null V I 4 4 missense 0.934 probably damaging 0.03 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs200742521 2q37.3 2 241266856G> T null A E 5 5 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759403524 2q37.3 2 241266854C> T null V I 6 6 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1456326486 2q37.3 2 241266829T> A null E V 14 14 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs986847427 2q37.3 2 241266821T> C null S G 17 17 missense 0.941 probably damaging 0.05 deleterious - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs753730202 2q37.3 2 241266812C> T null V I 20 20 missense 0.003 benign 0.28 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs766397299 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241266808G> A null P L 21 21 missense 0.135 benign 0.25 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1400305114 2q37.3 2 241264602G> T null A D 27 27 missense 0.011 benign 0.07 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1212464794 2q37.3 2 241264603C> A null A S 27 27 missense 0.127 benign 0.29 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144379709 2q37.3 2 241264600T> C null T A 28 28 0.002796 missense 0.001 benign 0.91 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369014439 2q37.3 2 241264596A> G null L P 29 29 missense 0.851 possibly damaging 0.09 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs541078735 2q37.3 2 241264597G> C null L V 29 29 missense 0.018 benign 0.38 tolerated - low confidence 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs750320032 2q37.3 2 241264592A> T null N K 30 30 missense 0.038 benign 0.83 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1191024009 2q37.3 2 241264593T> G null N T 30 30 missense 0.001 benign 0.68 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1463413559 2q37.3 2 241264588C> T null E K 32 32 missense 0.547 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs761945807 2q37.3 2 241264584T> C null E G 33 33 missense 0.127 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs767410138 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241264585C> T null E K 33 33 missense 0.127 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559521759 2q37.3 2 241264579T> C null S G 35 35 missense 0.0 benign 0.35 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs768840264 2q37.3 2 241264576C> T null D N 36 36 missense 0.847 possibly damaging 0.84 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs141167515 2q37.3 2 241264572G> A null P L 37 37 missense 0.192 benign 0.33 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1265620584 2q37.3 2 241264563T> C null Y C 40 40 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs770075568 2q37.3 2 241264560T> C null K R 41 41 missense 0.352 benign 0.37 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1356903199 2q37.3 2 241264555C> T null A T 43 43 missense 0.918 probably damaging 0.46 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1329961135 2q37.3 2 241264524C> A null C F 53 53 missense 0.308 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747673112 2q37.3 2 241264512G> A null A V 57 57 missense 0.011 benign 0.28 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11891776 2q37.3 2 241264501C> G null A P 61 61 3.99E-4 missense 0.532 possibly damaging 0.28 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11891776 pubmed:1318310,pubmed:14702039,pubmed:15489334,pubmed:21269460 2q37.3 2 241264501C> A null A S 61 61 3.99E-4 missense 0.022 benign 0.61 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11891776 2q37.3 2 241264501C> T null A T 61 61 3.99E-4 missense 0.007 benign 0.49 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs182727333 2q37.3 2 241264495C> A null A S 63 63 9.98E-4 missense 0.056 benign 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1456699162 2q37.3 2 241264491C> G null W S 64 64 missense 1.0 probably damaging 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1375079473 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241264488C> T null G E 65 65 missense 0.037 benign 0.8 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1375079473 2q37.3 2 241264488C> A null G V 65 65 missense 0.022 benign 0.29 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs757187077 2q37.3 2 241264483T> C null K E 67 67 missense 0.467 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1283529258 2q37.3 2 241264478G> C null I M 68 68 missense 0.103 benign 0.72 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs764118724 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241264476C> T null R Q 69 69 missense 0.065 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1303060063 2q37.3 2 241264474G> A null P S 70 70 missense 0.09 benign 0.46 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763024592 2q37.3 2 241264471T> C null I V 71 71 missense 0.019 benign 0.89 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1255155726 2q37.3 2 241264465C> A null A S 73 73 missense 0.006 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1221094501 2q37.3 2 241262857T> C null K E 102 102 missense 0.614 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP rs140608605 2q37.3 2 241262848G> T null L I 105 105 missense 0.039 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP rs140608605 2q37.3 2 241262848G> C null L V 105 105 missense 0.039 benign 0.33 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1274287208 2q37.3 2 241262839T> G null M L 108 108 missense 0.835 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs761118075 2q37.3 2 241262818A> T null L M 115 115 missense 0.57 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1490898113 2q37.3 2 241262795G> T null D E 122 122 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1356351149 2q37.3 2 241262794G> T null Q K 123 123 missense 0.219 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs762517514 2q37.3 2 241262775A> G null V A 129 129 missense 0.918 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1475760245 2q37.3 2 241262759A> T null D E 134 134 missense 0.009 benign 0.63 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs745470341 2q37.3 2 241262761C> G null D H 134 134 missense 0.736 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs745470341 2q37.3 2 241262761C> T null D N 134 134 missense 0.415 benign 0.35 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1169746510 2q37.3 2 241262757G> T null A D 135 135 missense 0.03 benign 0.5 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs780901435 2q37.3 2 241262751A> G null M T 137 137 missense 0.005 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1405298290 2q37.3 2 241262733A> G null I T 143 143 missense 0.018 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs531962779 2q37.3 2 241262734T> C null I V 143 143 2.0E-4 missense 0.006 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1473316822 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 2q37.3 2 241262725T> C null R G 146 146 missense 0.003 benign 0.23 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1412587582 2q37.3 2 241262719G> T null Q K 148 148 missense 0.607 possibly damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1367918749 2q37.3 2 241262712T> G null Q P 150 150 missense 0.723 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs780105002 2q37.3 2 241256802G> A null S L 152 152 missense 0.192 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs750691998 2q37.3 2 241256796G> A null T I 154 154 missense 0.053 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs756450726 2q37.3 2 241256797T> A null T S 154 154 missense 0.013 benign 0.49 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1008430478 2q37.3 2 241256790G> C null A G 156 156 missense 0.0 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1350485384 2q37.3 2 241256791C> T null A T 156 156 missense 0.001 benign 0.5 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC rs148487749 2q37.3 2 241256788T> C null I V 157 157 missense 0.195 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1411286729 2q37.3 2 241256781T> C null K R 159 159 missense 0.654 possibly damaging 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1451517942 2q37.3 2 241256775T> C null H R 161 161 missense 0.238 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1248964755 2q37.3 2 241256744C> G null E D 171 171 missense 0.669 possibly damaging 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1248964755 2q37.3 2 241256744C> A null E D 171 171 missense 0.669 possibly damaging 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1226199057 2q37.3 2 241256732G> C null D E 175 175 missense 0.005 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs764717873 2q37.3 2 241256699G> C null I M 186 186 missense 0.729 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1051912982 2q37.3 2 241256695G> A null R C 188 188 missense 0.189 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1289991895 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256694C> T null R H 188 188 missense 0.919 probably damaging 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs758962394 2q37.3 2 241256691G> A null P L 189 189 missense 0.06 benign 0.27 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs61757694 2q37.3 2 241256683G> C null P A 192 192 missense 0.0 benign 0.52 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs772856476 2q37.3 2 241256682G> T null P H 192 192 missense 0.357 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs61757694 2q37.3 2 241256683G> A null P S 192 192 missense 0.001 benign 0.55 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs61757694 2q37.3 2 241256683G> T null P T 192 192 missense 0.001 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs771800582 2q37.3 2 241256677T> C null N D 194 194 missense 0.009 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1217285528 2q37.3 2 241256674G> C null Q E 195 195 missense 0.01 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1348085599 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256641C> T null E K 206 206 missense 0.134 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs774154606 2q37.3 2 241256632G> A null R C 209 209 missense 0.202 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP rs371457818 2q37.3 2 241256631C> T null R H 209 209 missense 0.073 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1390987420 2q37.3 2 241256628T> C null H R 210 210 missense 0.931 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs376881661 2q37.3 2 241256623C> T null V I 212 212 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1191854801 2q37.3 2 241256619A> G null L S 213 213 missense 0.258 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs746016337 2q37.3 2 241256613A> G null I T 215 215 missense 0.749 possibly damaging 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1267437924 2q37.3 2 241256614T> C null I V 215 215 missense 0.55 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl,NCI-TCGA rs777752687 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 2q37.3 2 241256605C> T null E K 218 218 missense 0.968 probably damaging 0.07 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs376021997 2q37.3 2 241256395T> C null K R 221 221 missense 0.991 probably damaging 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs556914078 2q37.3 2 241256393G> A null R C 222 222 2.0E-4 missense 0.888 possibly damaging 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs757592730 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256392C> T null R H 222 222 missense 0.049 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs200585028 2q37.3 2 241256387C> T null V M 224 224 2.0E-4 missense 0.312 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559510228 2q37.3 2 241256382C> G null E D 225 225 missense 0.991 probably damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1216610110 2q37.3 2 241256380C> G null R T 226 226 missense 0.666 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7572799 2q37.3 2 241256372C> T null V I 229 229 9.98E-4 missense 0.007 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7572799 2q37.3 2 241256372C> A null V L 229 229 9.98E-4 missense 0.031 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755621726 2q37.3 2 241256363C> G null A P 232 232 missense 0.03 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755621726 2q37.3 2 241256363C> A null A S 232 232 missense 0.127 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1400002014 2q37.3 2 241256362G> A null A V 232 232 missense 0.003 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1256417729 2q37.3 2 241256351A> T null F I 236 236 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs375276065 2q37.3 2 241256345C> T null A T 238 238 missense 0.062 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1193459074 2q37.3 2 241256333T> C null N D 242 242 missense 0.17 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148554464 2q37.3 2 241256316C> G null E D 247 247 3.99E-4 missense 0.2 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs754784308 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256318C> T null E K 247 247 missense 0.096 benign 0.6 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs775919823 2q37.3 2 241256313G> C null I M 248 248 missense 0.167 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs566982506 2q37.3 2 241256315T> C null I V 248 248 2.0E-4 missense 0.253 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145890016 2q37.3 2 241256304C> G null E D 251 251 0.00619 missense 0.012 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1380894489 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256297T> C null T A 254 254 missense 0.001 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs772471761 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 2q37.3 2 241256294G> A null R C 255 255 missense 0.988 probably damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1384832289 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,pubmed:23856246,cosmic_study:376,cosmic_study:504 2q37.3 2 241256293C> T null R H 255 255 missense 0.721 possibly damaging 0.08 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs772471761 2q37.3 2 241256294G> T null R S 255 255 missense 0.914 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs910873549 2q37.3 2 241256285T> C null I V 258 258 missense 0.086 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs201285919 2q37.3 2 241256278G> A null P L 260 260 2.0E-4 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs201285919 2q37.3 2 241256278G> T null P Q 260 260 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs779366383 2q37.3 2 241256276G> A null P S 261 261 missense 0.13 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1442356090 2q37.3 2 241256273T> C null S G 262 262 missense 0.162 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755531759 2q37.3 2 241256272C> G null S T 262 262 missense 0.877 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs199760155 2q37.3 2 241256270C> T null V M 263 263 missense 0.803 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1019959681 2q37.3 2 241256263C> T null R Q 265 265 missense 0.017 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs756722367 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241256264G> A null R W 265 265 missense 0.721 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1264595005 2q37.3 2 241256261T> C null T A 266 266 missense 0.135 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763710691 2q37.3 2 241256255T> C null I V 268 268 missense 0.822 possibly damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs762803485 2q37.3 2 241256252C> T null V I 269 269 missense 0.623 possibly damaging 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1218813713 2q37.3 2 241256246T> C null T A 271 271 missense 0.012 benign 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs752578678 2q37.3 2 241256238C> G null E D 273 273 missense 0.278 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs956892676 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 2q37.3 2 241256233T> C null E G 275 275 missense 0.169 benign 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,TOPMed rs369501121 2q37.3 2 241256231G> A null Q * 276 276 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759507598 2q37.3 2 241256224G> A null A V 278 278 missense 0.461 possibly damaging 0.28 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1258620936 2q37.3 2 241256219C> A null A S 280 280 missense 0.918 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs766108090 2q37.3 2 241256210G> A null R C 283 283 missense 0.013 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1392123829 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 2q37.3 2 241256209C> T null R H 283 283 missense 0.417 benign 0.06 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1423168686 2q37.3 2 241256184C> A null K N 291 291 missense 0.972 probably damaging 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1271212594 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241255575C> G null K N 293 293 missense 0.082 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs774557611 2q37.3 2 241255565T> C null T A 297 297 missense 0.615 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1345871483 2q37.3 2 241255564G> C null T S 297 297 missense 0.17 benign 0.2 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1262602197 2q37.3 2 241255562T> C null I V 298 298 missense 0.035 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1352895994 2q37.3 2 241255546T> C null K R 303 303 missense 0.012 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs768946845 2q37.3 2 241255540G> C null S C 305 305 missense 0.354 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs768946845 2q37.3 2 241255540G> A null S F 305 305 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs145139653 2q37.3 2 241255510C> G null G A 315 315 missense 0.426 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1028361939 cosmic curated [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:24292195,cosmic_study:563 2q37.3 2 241255504G> T null S * 317 317 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs916729106 2q37.3 2 241255483C> T null R K 324 324 missense 0.0 benign 0.87 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs746504056 2q37.3 2 241255471G> C null S C 328 328 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs556038051 2q37.3 2 241255469C> T null V I 329 329 3.99E-4 missense 0.88 possibly damaging 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747745784 2q37.3 2 241255463T> C null I V 331 331 missense 0.023 benign 0.65 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs145626561 2q37.3 2 241255456G> T null P H 333 333 missense 0.266 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1417592410 2q37.3 2 241255450T> C null D G 335 335 missense 0.779 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1468450061 2q37.3 2 241255444A> T null I N 337 337 missense 0.0 benign 0.53 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1222715616 2q37.3 2 241255430T> C null I V 342 342 missense 0.09 benign 0.73 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1231378912 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 2q37.3 2 241255424G> A null R * 344 344 missense 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1167605599 2q37.3 2 241255423C> A null R L 344 344 missense 0.919 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1167605599 2q37.3 2 241255423C> T null R Q 344 344 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs753729962 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241255418C> T null E K 346 346 missense 0.988 probably damaging 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1242565449 2q37.3 2 241255415G> C null P A 347 347 missense 0.343 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1196986399 2q37.3 2 241255409T> C null K E 349 349 missense 0.835 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs755960637 2q37.3 2 241255407C> G null K N 349 349 missense 0.749 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs750410025 2q37.3 2 241255398C> G null Q H 352 352 missense 0.211 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs761890384 2q37.3 2 241255381T> C null Y C 358 358 missense 0.996 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1490281928 2q37.3 2 241255379C> T null A T 359 359 missense 0.295 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1223649745 2q37.3 2 241255154T> C null N S 362 362 missense 0.183 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs931675738 2q37.3 2 241255148A> G null F S 364 364 missense 0.009 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1335040082 2q37.3 2 241255142A> G null V A 366 366 missense 0.219 benign 0.33 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs201275944 2q37.3 2 241255143C> T null V I 366 366 3.99E-4 missense 0.023 benign 0.43 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1382121364 2q37.3 2 241255140A> C null S A 367 367 missense 0.001 benign 0.92 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs566762728 2q37.3 2 241255139G> C null S C 367 367 2.0E-4 missense 0.673 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs566762728 2q37.3 2 241255139G> A null S F 367 367 2.0E-4 missense 0.503 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs918799841 2q37.3 2 241255136G> C null S C 368 368 missense 0.003 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs745739712 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 2q37.3 2 241255131C> T null A T 370 370 missense 0.001 benign 0.59 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1275433961 2q37.3 2 241255128C> G null A P 371 371 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1275433961 2q37.3 2 241255128C> T null A T 371 371 missense 0.249 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147572258 2q37.3 2 241255125G> C null P A 372 372 2.0E-4 missense 0.919 probably damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1210201866 2q37.3 2 241255112T> C null H R 376 376 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1431820924 2q37.3 2 241255091T> C null K R 383 383 missense 0.108 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs780063807 2q37.3 2 241255084C> A null Q H 385 385 missense 0.172 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs777790935 2q37.3 2 241255073T> C null K R 389 389 missense 0.012 benign 0.39 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs777790935 2q37.3 2 241255073T> G null K T 389 389 missense 0.322 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs758477634 2q37.3 2 241255071T> C null I V 390 390 missense 0.011 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs752851077 2q37.3 2 241255062G> T null Q K 393 393 missense 0.006 benign 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1200856333 2q37.3 2 241255059T> G null M L 394 394 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs765562077 2q37.3 2 241255056G> A null P S 395 395 missense 0.377 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1267158668 2q37.3 2 241255053T> C null K E 396 396 missense 0.292 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1321295286 2q37.3 2 241253496A> C null V G 397 397 missense 0.961 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1290083060 2q37.3 2 241253497C> T null V I 397 397 missense 0.307 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs940546201 2q37.3 2 241253491T> C null I V 399 399 missense 0.101 benign 0.72 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559506203 2q37.3 2 241253476C> T null G S 404 404 missense 0.748 possibly damaging 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs756565008 2q37.3 2 241253468G> C null D E 406 406 missense 0.94 probably damaging 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1304599664 2q37.3 2 241253470C> T null D N 406 406 missense 0.312 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188141511 2q37.3 2 241253466T> C null K R 407 407 3.99E-4 missense 0.003 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1186578519 2q37.3 2 241253462G> C null I M 408 408 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1450010232 2q37.3 2 241253449G> A null P S 413 413 missense 0.986 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1170200390 2q37.3 2 241253446T> C null T A 414 414 missense 0.312 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1323220004 2q37.3 2 241253440C> A null D Y 416 416 missense 0.94 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1454767196 2q37.3 2 241253437C> T null V I 417 417 missense 0.976 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs568215896 2q37.3 2 241253434T> G null N H 418 418 2.0E-4 missense 0.014 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs7578199 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241253433T> C null N S 418 418 0.1378 missense 0.001 benign 0.27 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7578199 2q37.3 2 241253433T> G null N T 418 418 0.1378 missense 0.001 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,TOPMed,gnomAD rs143089046 2q37.3 2 241253427G> A null A V 420 420 missense 0.045 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1249810478 2q37.3 2 241253424T> C null Q R 421 421 missense 0.001 benign 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1319981187 2q37.3 2 241253418T> C null Q R 423 423 missense 0.103 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs776269894 2q37.3 2 241253411T> G null E D 425 425 missense 0.135 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1258700672 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241253405C> T null M I 427 427 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1485508430 2q37.3 2 241253406A> G null M T 427 427 missense 0.039 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1366512900 2q37.3 2 241253407T> C null M V 427 427 missense 0.009 benign 0.27 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1361084095 2q37.3 2 241253403A> C null V G 428 428 missense 0.049 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1223550181 2q37.3 2 241253404C> G null V L 428 428 missense 0.02 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1282766552 2q37.3 2 241253400T> A null K I 429 429 missense 0.381 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs899877903 2q37.3 2 241253397T> A null D V 430 430 missense 0.948 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1259146230 2q37.3 2 241253035T> C null I V 432 432 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs778201425 2q37.3 2 241253028C> T null R Q 434 434 missense 0.022 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1208333007 2q37.3 2 241253024C> T null M I 435 435 missense 0.055 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs754453807 2q37.3 2 241253019T> C null Y C 437 437 missense 0.019 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs765897287 2q37.3 2 241253011T> A null I F 440 440 missense 0.717 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1470218667 2q37.3 2 241253009G> C null I M 440 440 missense 0.341 benign 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs923651807 2q37.3 2 241253010A> G null I T 440 440 missense 0.628 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114345925 2q37.3 2 241253007T> C null N S 441 441 3.99E-4 missense 0.0 benign 0.84 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114345925 2q37.3 2 241253007T> G null N T 441 441 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1169568768 2q37.3 2 241253000G> T null D E 443 443 missense 0.113 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs967948797 2q37.3 2 241253002C> T null D N 443 443 missense 0.261 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs761574565 2q37.3 2 241252987T> C null R G 448 448 missense 0.031 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1437474732 2q37.3 2 241252966C> T null G S 455 455 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs772433542 2q37.3 2 241249972T> C null I V 461 461 missense 0.104 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs748599607 2q37.3 2 241249969T> C null K E 462 462 missense 0.976 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559501621 2q37.3 2 241249963G> C null Q E 464 464 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1358861208 2q37.3 2 241249959T> C null Y C 465 465 missense 0.001 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1382355136 cosmic curated [Cosmic]: breast pubmed:22302350,cosmic_study:370 2q37.3 2 241249955C> G null K N 466 466 missense 0.051 benign 0.43 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs755620029 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241249956T> C null K R 466 466 missense 0.118 benign 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs997824640 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241249950G> A null S F 468 468 missense 0.875 possibly damaging 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes rs573105480 2q37.3 2 241249947A> G null V A 469 469 2.0E-4 missense 0.406 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1384636597 2q37.3 2 241249948C> G null V L 469 469 missense 0.09 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1384636597 2q37.3 2 241249948C> T null V M 469 469 missense 0.422 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1180226952 cosmic curated [Cosmic]: autonomic_ganglia, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23334666,cosmic_study:466 2q37.3 2 241249945G> A null R C 470 470 missense 0.347 benign 0.01 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs780871072 2q37.3 2 241249942T> C null I V 471 471 missense 0.73 possibly damaging 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1052841532 2q37.3 2 241249935G> A null P L 473 473 missense 0.022 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1192906299 2q37.3 2 241249936G> T null P T 473 473 missense 0.025 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs758279727 2q37.3 2 241249916A> C null N K 479 479 missense 0.127 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1222304781 2q37.3 2 241249914A> G null L S 480 480 missense 0.211 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs752666961 2q37.3 2 241249909G> A null R C 482 482 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1271362034 2q37.3 2 241249908C> T null R H 482 482 missense 0.829 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs765331558 2q37.3 2 241249906T> C null I V 483 483 missense 0.036 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1447913820 2q37.3 2 241249903C> T null E K 484 484 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1428559202 2q37.3 2 241249893G> A null P L 487 487 missense 0.764 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs760744082 2q37.3 2 241249885C> T null V M 490 490 missense 0.843 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs773438416 2q37.3 2 241249876C> A null A S 493 493 missense 0.964 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs772415501 2q37.3 2 241249875G> A null A V 493 493 missense 0.422 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1420844409 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241249870G> A null R * 495 495 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370192530 2q37.3 2 241249869C> T null R Q 495 495 missense 0.003 benign 0.52 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1200637799 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241249846G> A null R C 503 503 missense 0.954 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1200637799 2q37.3 2 241249846G> C null R G 503 503 missense 0.79 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs151140223 2q37.3 2 241249845C> T null R H 503 503 missense 0.422 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1190768773 2q37.3 2 241249841C> T null M I 504 504 missense 0.014 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1023568942 2q37.3 2 241249843T> C null M V 504 504 missense 0.023 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1421950518 2q37.3 2 241248347T> C null E G 505 505 missense 0.76 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1263823381 cosmic curated [Cosmic]: endometrium cosmic_study:419 2q37.3 2 241248338C> T null R H 508 508 missense 0.039 benign 0.09 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1439509990 2q37.3 2 241248333T> C null K E 510 510 missense 0.316 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767610900 2q37.3 2 241248327G> T null L I 512 512 missense 0.048 benign 0.69 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767610900 2q37.3 2 241248327G> C null L V 512 512 missense 0.101 benign 0.67 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs761986466 2q37.3 2 241248323A> C null I S 513 513 missense 0.037 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1282899775 2q37.3 2 241248318C> T null E K 515 515 missense 0.273 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs764310403 2q37.3 2 241248306G> A null H Y 519 519 missense 0.982 probably damaging 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559499253 2q37.3 2 241248302C> T null R H 520 520 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs775858829 2q37.3 2 241248295G> C null I M 522 522 missense 0.885 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs763435125 2q37.3 2 241248297T> C null I V 522 522 missense 0.55 possibly damaging 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559499185 2q37.3 2 241248276G> A null R W 529 529 missense 0.888 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1460165009 2q37.3 2 241248270G> A null R C 531 531 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1340226483 2q37.3 2 241248269C> T null R H 531 531 missense 0.955 probably damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs760239912 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241248261G> A null R C 534 534 missense 0.414 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1406351960 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 2q37.3 2 241248260C> T null R H 534 534 missense 0.981 probably damaging 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1365848414 2q37.3 2 241248255T> G null K Q 536 536 missense 0.661 possibly damaging 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1162100393 2q37.3 2 241248254T> C null K R 536 536 missense 0.276 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs772808360 2q37.3 2 241248252A> C null F V 537 537 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559498875 2q37.3 2 241248113T> C null I V 541 541 missense 0.039 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1029749733 2q37.3 2 241248101G> C null P A 545 545 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs770255776 2q37.3 2 241248098C> G null D H 546 546 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1453151552 2q37.3 2 241248094G> A null P L 547 547 missense 0.316 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs745750949 2q37.3 2 241248083T> C null S G 551 551 missense 0.933 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs781166307 2q37.3 2 241248076A> T null I N 553 553 missense 0.674 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs747154508 2q37.3 2 241248059G> A null P S 559 559 missense 0.382 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs748517409 2q37.3 2 241248055T> C null K R 560 560 missense 0.16 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1213442886 2q37.3 2 241248049T> C null E G 562 562 missense 0.044 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1394634926 2q37.3 2 241248047C> T null V M 563 563 missense 0.966 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1346242316 2q37.3 2 241248040T> G null K T 565 565 missense 0.462 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1303307976 2q37.3 2 241248034G> A null T I 567 567 missense 0.026 benign 0.38 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs894283509 2q37.3 2 241248023G> C null Q E 571 571 missense 0.025 benign 0.6 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs752867460 2q37.3 2 241248015C> G null M I 573 573 missense 0.026 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs758598415 2q37.3 2 241248016A> G null M T 573 573 missense 0.043 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1170624294 2q37.3 2 241248017T> C null M V 573 573 missense 0.005 benign 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1452996011 2q37.3 2 241248011C> T null A T 575 575 missense 0.012 benign 0.42 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755449911 2q37.3 2 241248010G> A null A V 575 575 missense 0.287 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs780583839 2q37.3 2 241247135T> C null N S 580 580 missense 0.031 benign 0.66 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs11555545 2q37.3 2 241247132C> G null S T 581 581 missense 0.57 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs937344069 2q37.3 2 241247124T> C null I V 584 584 missense 0.007 benign 0.5 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs769058847 2q37.3 2 241247115G> C null P A 587 587 missense 0.461 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs756644872 2q37.3 2 241247114G> A null P L 587 587 missense 0.913 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763604849 2q37.3 2 241247093T> C null K R 594 594 missense 0.174 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1358923618 2q37.3 2 241247090T> C null N S 595 595 missense 0.646 possibly damaging 0.29 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs181729976 2q37.3 2 241247084A> G null I T 597 597 2.0E-4 missense 0.868 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs764911830 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241247070C> T null A T 602 602 missense 0.111 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1161917676 2q37.3 2 241247069G> A null A V 602 602 missense 0.105 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs776362305 2q37.3 2 241247065G> C null N K 603 603 missense 0.142 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs759306459 2q37.3 2 241247066T> G null N T 603 603 missense 0.042 benign 0.18 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs918561418 2q37.3 2 241246879C> T null R H 608 608 missense 0.597 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1217931932 2q37.3 2 241246856C> T null D N 616 616 missense 0.493 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs770193034 2q37.3 2 241246839A> C null N K 621 621 missense 0.197 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1444526185 2q37.3 2 241246834T> C null N S 623 623 missense 0.025 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559497220 2q37.3 2 241246831G> A null S L 624 624 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559497205 2q37.3 2 241246817T> C null I V 629 629 missense 0.059 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs746261841 2q37.3 2 241246813G> C null T R 630 630 missense 0.771 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559497188 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241246805G> A null R * 633 633 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs757658659 2q37.3 2 241246804C> G null R P 633 633 missense 0.67 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs757658659 2q37.3 2 241246804C> T null R Q 633 633 missense 0.024 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747546844 2q37.3 2 241246798T> C null N S 635 635 missense 0.13 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1002069225 2q37.3 2 241246793C> T null E K 637 637 missense 0.111 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1483735019 2q37.3 2 241246787C> A null A S 639 639 missense 0.894 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs777767470 2q37.3 2 241246783C> T null R Q 640 640 missense 0.131 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs754540075 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 2q37.3 2 241246784G> A null R W 640 640 missense 0.118 benign 0.03 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs149428713 2q37.3 2 241242674T> C null N S 652 652 missense 0.121 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1256845609 2q37.3 2 241242672T> C null I V 653 653 missense 0.421 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs755680102 2q37.3 2 241242666C> T null E K 655 655 missense 0.306 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1243642652 2q37.3 2 241242657C> T null V I 658 658 missense 0.074 benign 0.47 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs757179990 2q37.3 2 241242648G> T null P T 661 661 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1184810683 2q37.3 2 241242641T> C null K R 663 663 missense 0.101 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1238138959 2q37.3 2 241242639G> C null L V 664 664 missense 0.381 benign 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376700640 2q37.3 2 241242623A> G null I T 669 669 missense 0.248 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs775384709 2q37.3 2 241242617G> T null T N 671 671 missense 0.022 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1156288804 2q37.3 2 241242612C> T null G S 673 673 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1426076682 2q37.3 2 241242609G> A null R C 674 674 missense 0.446 possibly damaging 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs765392068 2q37.3 2 241242608C> T null R H 674 674 missense 0.721 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs776926351 2q37.3 2 241242600G> A null R C 677 677 missense 0.226 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1194166211 2q37.3 2 241242597A> T null S T 678 678 missense 0.691 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1262826847 2q37.3 2 241242590A> G null M T 680 680 missense 0.287 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1266133167 2q37.3 2 241242579C> T null G S 684 684 missense 0.791 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs757259747 2q37.3 2 241242572A> C null V G 686 686 missense 0.954 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1320486746 2q37.3 2 241242573C> T null V I 686 686 missense 0.7 possibly damaging 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140921483 2q37.3 2 241242555C> T null V M 692 692 3.99E-4 missense 0.006 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1219258173 2q37.3 2 241242549C> G null G R 694 694 missense 0.485 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs751452385 2q37.3 2 241242542C> T null G E 696 696 missense 0.462 possibly damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1019420712 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241242537C> T null D N 698 698 missense 0.451 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs202096199 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241242531C> T null V I 700 700 missense 0.049 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1477335554 2q37.3 2 241242528C> T null V I 701 701 missense 0.003 benign 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146439982 2q37.3 2 241242523G> C null I M 702 702 5.99E-4 missense 0.897 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759720651 2q37.3 2 241242512G> A null S F 706 706 missense 0.121 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs909483686 2q37.3 2 241242513A> T null S T 706 706 missense 0.003 benign 0.3 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151299167 2q37.3 2 241242509G> A null S L 707 707 3.99E-4 missense 0.04 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1374059225 2q37.3 2 241242503A> G null V A 709 709 missense 0.271 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs983647050 2q37.3 2 241242504C> G null V L 709 709 missense 0.48 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs760907330 2q37.3 2 241242496C> A null K N 711 711 missense 0.077 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs773522283 2q37.3 2 241242491T> G null K T 713 713 missense 0.065 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs762165124 2q37.3 2 241242489T> C null K E 714 714 missense 0.088 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs762165124 2q37.3 2 241242489T> G null K Q 714 714 missense 0.009 benign 0.47 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1304230191 2q37.3 2 241242476T> A null H L 718 718 missense 0.062 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1234910093 2q37.3 2 241242470G> A null A V 720 720 missense 0.704 possibly damaging 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs769186742 2q37.3 2 241242467T> C null E G 721 721 missense 0.005 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1384627037 2q37.3 2 241242465C> T null E K 722 722 missense 0.348 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1401851553 2q37.3 2 241242461T> C null K R 723 723 missense 0.007 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1183327892 2q37.3 2 241240118G> C null T S 725 725 missense 0.253 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1424008744 2q37.3 2 241240104C> A null V F 730 730 missense 0.694 possibly damaging 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1339596954 2q37.3 2 241240096G> C null I M 732 732 missense 0.087 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs754903566 2q37.3 2 241240095G> A null R C 733 733 missense 0.843 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115571292 2q37.3 2 241240094C> T null R H 733 733 0.006589 missense 0.052 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs756241811 2q37.3 2 241240092C> T null A T 734 734 missense 0.962 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1405888654 2q37.3 2 241240082T> C null E G 737 737 missense 0.864 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1335810214 2q37.3 2 241240071A> C null F V 741 741 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs757542367 2q37.3 2 241240065T> C null I V 743 743 missense 0.798 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs143103039 2q37.3 2 241240062C> G null G R 744 744 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs143103039 cosmic curated [Cosmic]: kidney cosmic_study:416 2q37.3 2 241240062C> T null G S 744 744 missense 0.991 probably damaging 0.08 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs906480587 2q37.3 2 241240055C> T null G E 746 746 missense 0.978 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763451461 2q37.3 2 241240056C> G null G R 746 746 missense 0.843 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1486987244 2q37.3 2 241240050C> T null G S 748 748 missense 0.012 benign 0.37 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs199968516 2q37.3 2 241240049C> A null G V 748 748 missense 0.041 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs760329761 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver pubmed:22810696,cosmic_study:322,cosmic_study:328,cosmic_study:376,cosmic_study:419 2q37.3 2 241240041G> A null R C 751 751 missense 0.888 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs772976334 2q37.3 2 241240040C> T null R H 751 751 missense 0.021 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs893602391 2q37.3 2 241240036C> G null K N 752 752 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1220298990 2q37.3 2 241240035C> A null V L 753 753 missense 0.042 benign 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,NCI-TCGA,gnomAD rs141380467 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241240032G> A null R C 754 754 missense 0.969 probably damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1399655029 2q37.3 2 241240031C> T null R H 754 754 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs780030761 2q37.3 2 241240022G> C null T S 757 757 missense 0.119 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1175857333 2q37.3 2 241240016G> A null A V 759 759 missense 0.283 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs370186689 2q37.3 2 241240013C> T null R H 760 760 missense 0.974 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs370186689 2q37.3 2 241240013C> A null R L 760 760 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1424807099 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241240010A> G null V A 761 761 missense 0.087 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs751738727 2q37.3 2 241240008T> A null I F 762 762 missense 0.323 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs11555548 2q37.3 2 241240001G> A null P L 764 764 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1159214190 2q37.3 2 241239999C> G null A P 765 765 missense 0.012 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs758748107 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241239998G> A null A V 765 765 missense 0.093 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1247911599 2q37.3 2 241239986T> G null K T 769 769 missense 0.009 benign 0.63 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1030179762 2q37.3 2 241239984C> G null D H 770 770 missense 0.894 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1009876583 2q37.3 2 241239966T> C null I V 776 776 missense 0.113 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375902370 2q37.3 2 241239963T> A null I F 777 777 missense 0.079 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs765886386 2q37.3 2 241239962A> G null I T 777 777 missense 0.127 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375902370 2q37.3 2 241239963T> C null I V 777 777 missense 0.007 benign 0.43 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1449882818 2q37.3 2 241239952C> A null E D 780 780 missense 0.02 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs200770509 2q37.3 2 241239949G> C null D E 781 781 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1200458864 2q37.3 2 241239948C> T null A T 782 782 missense 0.477 possibly damaging 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs772806420 2q37.3 2 241239947G> A null A V 782 782 missense 0.586 possibly damaging 0.05 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs761469892 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 2q37.3 2 241239945C> T null V I 783 783 missense 0.394 benign 0.04 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1214801603 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241239942G> A null R * 784 784 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs773929734 2q37.3 2 241239941C> T null R Q 784 784 missense 0.0 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,TOPMed,gnomAD rs149815299 2q37.3 2 241239914A> G null L S 793 793 missense 0.135 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1401427824 2q37.3 2 241239912T> C null I V 794 794 missense 0.29 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs745840916 2q37.3 2 241239909G> C null Q E 795 795 missense 0.023 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1407833046 2q37.3 2 241239908T> C null Q R 795 795 missense 0.0 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1237865950 2q37.3 2 241239817T> C null N D 799 799 missense 0.073 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs919543833 2q37.3 2 241239810A> G null V A 801 801 missense 0.098 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1478583172 2q37.3 2 241239811C> A null V L 801 801 missense 0.059 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs761359186 2q37.3 2 241239806T> G null E D 802 802 missense 0.577 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1221036289 2q37.3 2 241239808C> T null E K 802 802 missense 0.299 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs748384140 2q37.3 2 241239805C> T null D N 803 803 missense 0.345 benign 0.26 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs779363266 2q37.3 2 241239801G> A null S F 804 804 missense 0.003 benign 0.7 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1192379452 2q37.3 2 241239787G> C null P A 809 809 missense 0.614 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs754362167 2q37.3 2 241239786G> C null P R 809 809 missense 0.953 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs780463546 2q37.3 2 241239780T> G null H P 811 811 missense 0.847 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs79678263 2q37.3 2 241239777T> A null H L 812 812 missense 0.847 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs79678263 2q37.3 2 241239777T> G null H P 812 812 missense 0.967 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs79678263 2q37.3 2 241239777T> C null H R 812 812 missense 0.915 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs750987672 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 2q37.3 2 241239774C> T null R H 813 813 missense 0.55 possibly damaging 0.06 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs910628111 2q37.3 2 241239771T> C null H R 814 814 missense 0.015 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs763692759 2q37.3 2 241239766C> T null V I 816 816 missense 0.078 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,TOPMed,gnomAD rs200702604 2q37.3 2 241239759C> T null R H 818 818 missense 0.939 probably damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1181112753 2q37.3 2 241239756C> T null R K 819 819 missense 0.072 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs762530439 2q37.3 2 241239749C> G null Q H 821 821 missense 0.882 possibly damaging 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a dbSNP rs371053785 [ClinVar]: Marfanoid habitus and intellectual disability 2q37.3 2 241239742G> C null R G 824 824 missense 0 Marfanoid habitus and intellectual disability ClinVar:RCV000850416 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377448064 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:23619168,cosmic_study:561 2q37.3 2 241239741C> T null R Q 824 824 missense 0.022 benign 0.13 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371053785 2q37.3 2 241239742G> A null R W 824 824 missense 0.121 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1488623926 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241239730C> T null E K 828 828 missense 0.182 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759392733 2q37.3 2 241239725C> G null E D 829 829 missense 0.109 benign 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs151104717 2q37.3 2 241239723T> C null Y C 830 830 missense 0.02 benign 0.28 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1366543397 2q37.3 2 241239724A> G null Y H 830 830 missense 0.847 possibly damaging 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1324079070 2q37.3 2 241239721C> T null G S 831 831 missense 0.823 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs200802562 2q37.3 2 241239714A> C null V G 833 833 missense 0.018 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1356866448 2q37.3 2 241239715C> A null V L 833 833 missense 0.164 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1279638603 2q37.3 2 241239710C> T null M I 834 834 missense 0.001 benign 0.77 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1279638603 2q37.3 2 241239710C> A null M I 834 834 missense 0.001 benign 0.77 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs772290900 2q37.3 2 241239711A> T null M K 834 834 missense 0.062 benign 0.07 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs773097426 2q37.3 2 241239712T> C null M V 834 834 missense 0.007 benign 0.54 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs199506125 2q37.3 2 241239708A> G null V A 835 835 missense 0.596 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs199506125 2q37.3 2 241239708A> C null V G 835 835 missense 0.962 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs748367542 2q37.3 2 241239709C> G null V L 835 835 missense 0.22 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs749661867 2q37.3 2 241239706T> C null S G 836 836 missense 0.636 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed rs780486771 2q37.3 2 241239705C> T null S N 836 836 missense 0.599 possibly damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1452768247 2q37.3 2 241239700G> A null P S 838 838 missense 0.74 possibly damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1213028910 2q37.3 2 241239696C> T null R H 839 839 missense 0.828 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1459355982 2q37.3 2 241239687G> C null T R 842 842 missense 0.382 benign 0.48 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs756541532 2q37.3 2 241239683C> G null Q H 843 843 missense 0.012 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs147457010 2q37.3 2 241239680G> T null S R 844 844 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs757966131 2q37.3 2 241239679C> T null D N 845 845 missense 0.127 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1280232163 2q37.3 2 241239676T> C null K E 846 846 missense 0.343 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs904896800 2q37.3 2 241239675T> C null K R 846 846 missense 0.011 benign 0.6 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs904896800 2q37.3 2 241239675T> G null K T 846 846 missense 0.034 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1196053898 2q37.3 2 241239669G> A null T I 848 848 missense 0.025 benign 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1444255918 2q37.3 2 241239664T> C null K E 850 850 missense 0.92 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs532145414 2q37.3 2 241239658C> G null A P 852 852 2.0E-4 missense 0.073 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs532145414 2q37.3 2 241239658C> T null A T 852 852 2.0E-4 missense 0.099 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1416228775 2q37.3 2 241239657G> A null A V 852 852 missense 0.662 possibly damaging 0.05 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs766199413 2q37.3 2 241239651T> C null D G 854 854 missense 0.028 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1158451246 2q37.3 2 241239640C> T null A T 858 858 missense 0.198 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs773259310 2q37.3 2 241239636G> C null A G 859 859 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767701164 2q37.3 2 241239628G> A null R C 862 862 missense 0.108 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767701164 2q37.3 2 241239628G> C null R G 862 862 missense 0.693 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs762020447 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241239627C> T null R H 862 862 missense 0.279 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs762020447 2q37.3 2 241239627C> A null R L 862 862 missense 0.194 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs774689627 2q37.3 2 241239625T> C null I V 863 863 missense 0.275 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs749559163 2q37.3 2 241239612A> G null I T 867 867 missense 0.03 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs144556840 2q37.3 2 241239605G> C null D E 869 869 missense 0.076 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs772620966 2q37.3 2 241239607C> T null D N 869 869 missense 0.162 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1179816556 2q37.3 2 241238783G> A null A V 872 872 missense 0.943 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1437547989 2q37.3 2 241238781G> A null Q * 873 873 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755839436 2q37.3 2 241238779C> G null Q H 873 873 missense 0.894 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1248887796 2q37.3 2 241238780T> A null Q L 873 873 missense 0.875 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1483395854 2q37.3 2 241238774G> A null T I 875 875 missense 0.278 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1278964455 2q37.3 2 241238765C> T null C Y 878 878 missense 0.76 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1231529677 2q37.3 2 241238763C> T null A T 879 879 missense 0.001 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs750190856 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241238760T> C null I V 880 880 missense 0.326 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs781161341 2q37.3 2 241238756G> T null P H 881 881 missense 0.744 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1238272873 2q37.3 2 241238753T> C null Q R 882 882 missense 0.95 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1225518003 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241238742G> A null R * 886 886 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs528720838 2q37.3 2 241238736C> G null V L 888 888 missense 0.056 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1397986112 2q37.3 2 241238733T> A null M L 889 889 missense 0.022 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs764070872 2q37.3 2 241238726G> A null P L 891 891 missense 0.347 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763163799 2q37.3 2 241238723T> C null K R 892 892 missense 0.189 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1321954244 2q37.3 2 241238720C> A null G V 893 893 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs765545509 2q37.3 2 241238717G> A null S F 894 894 missense 0.528 possibly damaging 0.78 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759778635 2q37.3 2 241238706G> A null Q * 898 898 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP rs376116113 2q37.3 2 241238699G> A null T I 900 900 missense 0.796 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs771295977 2q37.3 2 241238696C> T null R Q 901 901 missense 0.031 benign 0.35 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs776943175 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 2q37.3 2 241238697G> A null R W 901 901 missense 0.934 probably damaging 0.03 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1190109215 2q37.3 2 241238687C> T null S N 904 904 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs768019779 2q37.3 2 241238675T> C null K R 908 908 missense 0.995 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs748874925 2q37.3 2 241238662T> G null R S 912 912 missense 0.81 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs779449255 2q37.3 2 241238655T> C null N D 915 915 missense 0.01 benign 0.62 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs745517400 2q37.3 2 241238652C> T null A T 916 916 missense 0.001 benign 0.43 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a NCI-TCGA,gnomAD rs61757693 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241236766T> C null H R 918 918 missense 0.046 benign 0.56 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs776496339 2q37.3 2 241236763C> G null S T 919 919 missense 0.072 benign 0.55 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs770822941 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 2q37.3 2 241236758C> G null E Q 921 921 missense 0.087 benign 0.28 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs746849248 2q37.3 2 241236757T> A null E V 921 921 missense 0.631 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1333629097 2q37.3 2 241236746G> C null Q E 925 925 missense 0.013 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs758317347 2q37.3 2 241236740T> G null N H 927 927 missense 0.979 probably damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369507432 2q37.3 2 241236731C> T null E K 930 930 missense 0.003 benign 0.65 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1208064006 2q37.3 2 241236727G> C null A G 931 931 missense 0.0 benign 0.47 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs142659756 2q37.3 2 241236724C> G null G A 932 932 missense 0.003 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs750756203 2q37.3 2 241236716T> C null R G 935 935 missense 0.0 benign 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs767776112 2q37.3 2 241236707T> C null K E 938 938 missense 0.041 benign 0.81 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs767776112 2q37.3 2 241236707T> G null K Q 938 938 missense 0.041 benign 0.44 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs951499300 2q37.3 2 241236701A> C null C G 940 940 missense 0.0 benign 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs951499300 2q37.3 2 241236701A> G null C R 940 940 missense 0.003 benign 0.51 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1027587329 2q37.3 2 241236696G> T null D E 941 941 missense 0.009 benign 0.7 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs995731049 2q37.3 2 241236695G> C null P A 942 942 missense 0.134 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs995731049 2q37.3 2 241236695G> A null P S 942 942 missense 0.35 benign 0.3 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs145223755 2q37.3 2 241236691C> T null G D 943 943 missense 0.003 benign 0.62 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed rs561809495 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241236692C> T null G S 943 943 2.0E-4 missense 0.003 benign 0.78 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs2305072 2q37.3 2 241236682C> G null R T 946 946 missense 0.072 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1449381216 2q37.3 2 241236683T> A null R W 946 946 missense 0.828 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759158851 2q37.3 2 241236679C> T null R K 947 947 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs776400845 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241236676C> T null C Y 948 948 missense 0.75 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs746674954 2q37.3 2 241236665T> A null I F 952 952 missense 0.009 benign 0.71 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs143341723 2q37.3 2 241236663G> C null I M 952 952 missense 0.031 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559481630 2q37.3 2 241236662T> A null I F 953 953 missense 0.972 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC rs771778870 2q37.3 2 241236658G> A null S F 954 954 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145714274 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 2q37.3 2 241236652C> T null R Q 956 956 missense 0.908 possibly damaging 0.11 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs778753184 2q37.3 2 241236653G> A null R W 956 956 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1282551852 2q37.3 2 241236647C> G null E Q 958 958 missense 0.993 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs749312258 2q37.3 2 241236637T> G null E A 961 961 missense 0.79 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs896624019 2q37.3 2 241236638C> G null E Q 961 961 missense 0.308 benign 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs572912678 2q37.3 2 241236635C> A null A S 962 962 7.99E-4 missense 0.322 benign 0.27 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1301799884 2q37.3 2 241236634G> A null A V 962 962 missense 0.738 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs557925333 2q37.3 2 241236626C> T null E K 965 965 2.0E-4 missense 0.113 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs557925333 2q37.3 2 241236626C> G null E Q 965 965 2.0E-4 missense 0.113 benign 0.52 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1374456315 2q37.3 2 241236622G> A null A V 966 966 missense 0.991 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1378599271 2q37.3 2 241236620G> T null L M 967 967 missense 0.988 probably damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs758892886 2q37.3 2 241235594C> A null A S 969 969 missense 0.784 possibly damaging 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs758892886 2q37.3 2 241235594C> T null A T 969 969 missense 0.972 probably damaging 0.23 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs779334390 2q37.3 2 241235589C> G null L F 970 970 missense 0.596 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs914923334 2q37.3 2 241235584G> A null P L 972 972 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1214379431 2q37.3 2 241235582C> T null V I 973 973 missense 0.404 benign 0.8 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1360672220 2q37.3 2 241235575A> G null I T 975 975 missense 0.009 benign 0.67 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs769672109 2q37.3 2 241235566T> G null E A 978 978 missense 0.04 benign 0.3 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs755527074 2q37.3 2 241235567C> T null E K 978 978 missense 0.328 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1394910353 2q37.3 2 241235561G> C null P A 980 980 missense 0.775 possibly damaging 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1271506625 2q37.3 2 241235560G> A null P L 980 980 missense 0.6 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs751269194 2q37.3 2 241235554T> C null D G 982 982 missense 0.957 probably damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs763870731 2q37.3 2 241235552G> A null L F 983 983 missense 0.058 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1172814173 2q37.3 2 241235546G> A null R C 985 985 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs762778846 2q37.3 2 241235545C> T null R H 985 985 missense 0.998 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs144083652 2q37.3 2 241235541G> C null Y * 986 986 5.99E-4 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs775385733 2q37.3 2 241235542T> C null Y C 986 986 missense 0.9 possibly damaging 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs34961814 2q37.3 2 241235540C> T null V I 987 987 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1254005009 2q37.3 2 241235537T> C null I V 988 988 missense 0.957 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs776511784 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241235524C> T null G E 992 992 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1227729795 2q37.3 2 241235519C> T null G R 994 994 missense 0.129 benign 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1405992847 2q37.3 2 241235518C> A null G V 994 994 missense 0.845 possibly damaging 0.15 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs747224928 2q37.3 2 241235513G> A null R C 996 996 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs773639028 2q37.3 2 241235499A> C null D E 1000 1000 missense 0.015 benign 0.92 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1324970880 2q37.3 2 241235496C> A null E D 1001 1001 missense 0.102 benign 0.55 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1481604838 2q37.3 2 241235245T> C null H R 1007 1007 missense 0.0 benign 0.54 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1430488034 2q37.3 2 241235246G> A null H Y 1007 1007 missense 0.033 benign 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1333778436 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241235239G> A null P L 1009 1009 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1237972796 2q37.3 2 241235240G> A null P S 1009 1009 missense 1.0 probably damaging 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs757980527 2q37.3 2 241235237C> T null A T 1010 1010 missense 0.177 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1251229389 2q37.3 2 241235233G> A null P L 1011 1011 missense 0.532 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375138734 2q37.3 2 241235224T> A null Q L 1014 1014 missense 0.161 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs368614346 2q37.3 2 241235210C> T null A T 1019 1019 missense 0.001 benign 0.46 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs750456889 2q37.3 2 241235203G> A null T M 1021 1021 missense 0.866 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs148676564 2q37.3 2 241235195C> T null A T 1024 1024 missense 0.022 benign 0.32 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1262269085 2q37.3 2 241235192C> T null A T 1025 1025 missense 0.014 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1317462458 2q37.3 2 241235189T> C null N D 1026 1026 missense 0.036 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1204500688 2q37.3 2 241235185A> G null L S 1027 1027 missense 0.845 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1205316129 2q37.3 2 241235181G> C null D E 1028 1028 missense 0.003 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1274853214 2q37.3 2 241235179C> A null R L 1029 1029 missense 0.043 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1274853214 2q37.3 2 241235179C> T null R Q 1029 1029 missense 0.405 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1348222068 2q37.3 2 241235180G> A null R W 1029 1029 missense 0.864 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs866622430 2q37.3 2 241235177C> T null A T 1030 1030 missense 0.274 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs746379684 2q37.3 2 241235173T> C null K R 1031 1031 missense 0.071 benign 0.21 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747753675 2q37.3 2 241235162G> T null L M 1035 1035 missense 0.045 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs778670196 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241235156G> A null R C 1037 1037 missense 0.936 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559478259 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241235155C> T null R H 1037 1037 missense 0.127 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs778670196 2q37.3 2 241235156G> T null R S 1037 1037 missense 0.476 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559478250 2q37.3 2 241235152A> G null V A 1038 1038 missense 0.035 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1386871698 2q37.3 2 241235140T> C null Q R 1042 1042 missense 0.003 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs756054968 2q37.3 2 241235135C> T null E K 1044 1044 missense 0.083 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs866561712 2q37.3 2 241235128T> G null E A 1046 1046 missense 0.314 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs750442483 2q37.3 2 241235129C> G null E Q 1046 1046 missense 0.314 benign 0.17 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767701270 2q37.3 2 241235124G> C null D E 1047 1047 missense 0.174 benign 0.16 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1242223092 2q37.3 2 241235122C> T null R Q 1048 1048 missense 0.267 benign 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1476078840 2q37.3 2 241235123G> A null R W 1048 1048 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs866105821 2q37.3 2 241233963C> A null A S 1049 1049 missense 0.225 benign 0.5 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1354827359 2q37.3 2 241233962G> A null A V 1049 1049 missense 0.014 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs571243212 2q37.3 2 241233941C> T null S N 1056 1056 missense 0.003 benign 0.28 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs765585751 2q37.3 2 241233929T> C null D G 1060 1060 missense 0.307 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs765585751 2q37.3 2 241233929T> A null D V 1060 1060 missense 0.591 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs777103021 2q37.3 2 241233927G> C null P A 1061 1061 missense 0.066 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1427404086 2q37.3 2 241233909T> C null I V 1067 1067 missense 0.158 benign 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs773848988 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241233903C> T null G R 1069 1069 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs11555550 2q37.3 2 241233894C> A null G W 1072 1072 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1170391197 2q37.3 2 241233890G> A null A V 1073 1073 missense 0.285 benign 0.12 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1482090373 2q37.3 2 241233881G> C null T S 1076 1076 missense 0.007 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs748965030 2q37.3 2 241233872C> T null R Q 1079 1079 missense 0.729 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1212191858 2q37.3 2 241233873G> A null R W 1079 1079 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs745607429 2q37.3 2 241233840C> T null D N 1090 1090 missense 0.506 possibly damaging 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2230359 2q37.3 2 241233832G> T null D E 1092 1092 0.1236 missense 0.005 benign 0.37 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2230359 2q37.3 2 241233832G> C null D E 1092 1092 0.1236 missense 0.005 benign 0.37 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1419798633 2q37.3 2 241233834C> T null D N 1092 1092 missense 0.0 benign 0.62 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs758477087 2q37.3 2 241233823G> C null N K 1095 1095 missense 0.06 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559471196 2q37.3 2 241230943G> A null P L 1097 1097 missense 0.007 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs750917763 2q37.3 2 241230944G> A null P S 1097 1097 missense 0.003 benign 0.62 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1416429182 2q37.3 2 241230934T> C null Q R 1100 1100 missense 0.01 benign 0.56 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs140776659 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 2q37.3 2 241230914C> T null E K 1107 1107 missense 0.562 possibly damaging 0.05 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs140776659 2q37.3 2 241230914C> G null E Q 1107 1107 missense 0.692 possibly damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs770732430 2q37.3 2 241230898G> A null A V 1112 1112 missense 0.703 possibly damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs760438598 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 2q37.3 2 241230893T> C null R G 1114 1114 missense 0.844 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1454369072 2q37.3 2 241230891C> G null R S 1114 1114 missense 0.793 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,gnomAD rs372685027 2q37.3 2 241230887C> T null A T 1116 1116 missense 0.32 benign 0.2 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1425884109 2q37.3 2 241230884T> C null I V 1117 1117 missense 0.822 possibly damaging 0.06 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs771960300 2q37.3 2 241230880A> G null L P 1118 1118 missense 0.966 probably damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs748088464 2q37.3 2 241230877C> T null R K 1119 1119 missense 0.001 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs778946858 2q37.3 2 241230875T> A null I F 1120 1120 missense 0.947 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs768789088 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 2q37.3 2 241230866C> T null E K 1123 1123 missense 0.025 benign 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1287534661 2q37.3 2 241230863G> T null L I 1124 1124 missense 0.835 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1455825281 2q37.3 2 241230857G> C null Q E 1126 1126 missense 0.0 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs780186842 2q37.3 2 241230840G> T null D E 1131 1131 missense 0.01 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs756379632 2q37.3 2 241230839C> T null V I 1132 1132 missense 0.02 benign 0.94 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368440496 2q37.3 2 241230835G> A null P L 1133 1133 missense 0.006 benign 0.41 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs569995599 2q37.3 2 241230830C> G null D H 1135 1135 2.0E-4 missense 0.744 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs753509915 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230821C> T null V I 1138 1138 missense 0.031 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs760410955 cosmic curated [Cosmic]: ovary pubmed:22102435,cosmic_study:397 2q37.3 2 241230811C> T null R H 1141 1141 missense 0.997 probably damaging 0.17 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs772822054 2q37.3 2 241230809T> C null I V 1142 1142 missense 0.073 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs767353594 2q37.3 2 241230799G> A null A V 1145 1145 missense 0.549 possibly damaging 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs774308878 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230797G> A null R C 1146 1146 missense 0.944 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs768699303 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230796C> T null R H 1146 1146 missense 0.891 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,TOPMed rs370946253 2q37.3 2 241230787G> C null A G 1149 1149 missense 0.012 benign 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed rs769840070 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230782G> A null R C 1151 1151 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs746115994 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230781C> T null R H 1151 1151 missense 0.891 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs781680747 2q37.3 2 241230775A> G null I T 1153 1153 missense 0.786 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs201478473 2q37.3 2 241230773T> A null M L 1154 1154 2.0E-4 missense 0.877 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs753251867 2q37.3 2 241230767C> T null E K 1156 1156 missense 0.026 benign 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs765922546 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241230762G> C null F L 1157 1157 missense 0.852 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1157507249 2q37.3 2 241230763A> G null F S 1157 1157 missense 0.975 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs372823425 2q37.3 2 241230760T> C null K R 1158 1158 missense 0.464 possibly damaging 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs894032339 2q37.3 2 241230263T> A null I F 1161 1161 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs752747372 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 2q37.3 2 241230259C> T null R H 1162 1162 missense 0.701 possibly damaging 0.02 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1185300977 2q37.3 2 241230255G> C null F L 1163 1163 missense 0.945 probably damaging 0.04 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1293293553 2q37.3 2 241230248T> C null S G 1166 1166 missense 0.009 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs776876774 2q37.3 2 241230244C> T null G E 1167 1167 missense 0.01 benign 0.44 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs759712338 2q37.3 2 241230245C> T null G R 1167 1167 missense 0.067 benign 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs771240280 2q37.3 2 241230241G> T null A D 1168 1168 missense 0.014 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1343850448 2q37.3 2 241230234G> C null D E 1170 1170 missense 0.261 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376382320 2q37.3 2 241230224C> T null V I 1174 1174 missense 0.63 possibly damaging 0.13 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1283726369 2q37.3 2 241230221T> G null T P 1175 1175 missense 0.905 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1283726369 2q37.3 2 241230221T> A null T S 1175 1175 missense 0.373 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs748567689 2q37.3 2 241230217A> C null V G 1176 1176 missense 0.983 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs779520491 2q37.3 2 241230214G> A null T M 1177 1177 missense 0.134 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1041170759 2q37.3 2 241230188C> T null A T 1186 1186 missense 0.979 probably damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs944103334 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:24292195,cosmic_study:563 2q37.3 2 241230182C> T null D N 1188 1188 missense 0.761 possibly damaging 0.0 deleterious 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,TOPMed,gnomAD rs373443431 2q37.3 2 241230173G> A null L F 1191 1191 missense 0.461 possibly damaging 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs756844405 2q37.3 2 241230170T> G null N H 1192 1192 missense 0.973 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1332564266 2q37.3 2 241230169T> A null N I 1192 1192 missense 0.817 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1439250824 cosmic curated [Cosmic]: large_intestine cosmic_study:376 2q37.3 2 241230159C> G null E D 1195 1195 missense 0.598 possibly damaging 0.12 tolerated 1 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1283414299 2q37.3 2 241230161C> G null E Q 1195 1195 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1350547252 2q37.3 2 241229958C> T null A T 1199 1199 missense 0.009 benign 0.45 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1400306870 2q37.3 2 241229955C> G null D H 1200 1200 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs766531306 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.3 2 241229952C> T null V M 1201 1201 missense 0.82 possibly damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1413651766 2q37.3 2 241229949C> T null V M 1202 1202 missense 0.149 benign 0.11 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1473727691 2q37.3 2 241229943T> C null S G 1204 1204 missense 0.023 benign 0.4 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1252620242 2q37.3 2 241229942C> A null S I 1204 1204 missense 0.056 benign 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1181463892 2q37.3 2 241229940C> G null E Q 1205 1205 missense 0.666 possibly damaging 0.1 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs527489432 2q37.3 2 241229937C> G null A P 1206 1206 missense 0.373 benign 0.35 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs527489432 2q37.3 2 241229937C> A null A S 1206 1206 missense 0.015 benign 0.84 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs761944295 2q37.3 2 241229936G> A null A V 1206 1206 missense 0.003 benign 0.61 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1283598250 2q37.3 2 241229925A> G null Y H 1210 1210 missense 0.106 benign 0.23 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs149149076 2q37.3 2 241229915G> T null P H 1213 1213 missense 0.921 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs149149076 2q37.3 2 241229915G> A null P L 1213 1213 missense 0.764 possibly damaging 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1229842354 2q37.3 2 241229916G> A null P S 1213 1213 missense 0.164 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1287334000 2q37.3 2 241229913G> C null P A 1214 1214 missense 0.006 benign 0.38 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1225978697 2q37.3 2 241229909G> A null A V 1215 1215 missense 0.001 benign 0.5 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1356840824 2q37.3 2 241229907G> A null H Y 1216 1216 missense 0.007 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs776017355 2q37.3 2 241229904C> T null E K 1217 1217 missense 0.116 benign 0.38 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376066963 2q37.3 2 241229897G> C null A G 1219 1219 missense 0.0 benign 0.25 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1559468685 2q37.3 2 241229898C> T null A T 1219 1219 missense 0.001 benign 0.31 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1457573764 2q37.3 2 241229891G> C null A G 1221 1221 missense 0.0 benign 0.71 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1457573764 2q37.3 2 241229891G> A null A V 1221 1221 missense 0.005 benign 0.22 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747771920 2q37.3 2 241229867C> A null R L 1229 1229 missense 0.961 probably damaging 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,TOPMed,gnomAD rs747771920 2q37.3 2 241229867C> T null R Q 1229 1229 missense 0.637 possibly damaging 0.14 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs771691256 2q37.3 2 241229868G> A null R W 1229 1229 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs866303067 2q37.3 2 241229858G> A null P L 1232 1232 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367686311 2q37.3 2 241229850C> A null A S 1235 1235 missense 0.001 benign 0.46 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367686311 2q37.3 2 241229850C> T null A T 1235 1235 missense 0.0 benign 0.47 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,gnomAD rs200093185 2q37.3 2 241229840C> T null S N 1238 1238 2.0E-4 missense 0.0 benign 0.62 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs139297681 2q37.3 2 241229678T> C null M V 1244 1244 missense 0.003 benign 0.29 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs752977176 2q37.3 2 241229674C> T null S N 1245 1245 missense 0.007 benign 0.19 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1466057829 2q37.3 2 241229654T> A null S C 1252 1252 missense 0.087 benign 0.01 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs897653883 2q37.3 2 241229653C> A null S I 1252 1252 missense 0.059 benign 0.08 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs897653883 2q37.3 2 241229653C> G null S T 1252 1252 missense 0.047 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed rs1347863588 2q37.3 2 241229650A> C null F C 1253 1253 missense 0.754 possibly damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs755342837 2q37.3 2 241229651A> C null F V 1253 1253 missense 0.138 benign 0.03 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1482451170 2q37.3 2 241229645C> T null A T 1255 1255 missense 0.007 benign 0.42 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs754247789 2q37.3 2 241229644G> A null A V 1255 1255 missense 0.197 benign 0.02 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a TOPMed,gnomAD rs1174659237 2q37.3 2 241229642G> C null Q E 1256 1256 missense 0.003 benign 1.0 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1202139855 2q37.3 2 241229640C> G null Q H 1256 1256 missense 0.482 possibly damaging 0.24 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl rs1381627134 2q37.3 2 241229635G> A null A V 1258 1258 missense 0.462 possibly damaging 0.09 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a 1000Genomes,ExAC,gnomAD rs577589305 2q37.3 2 241229624G> C null L V 1262 1262 2.0E-4 missense 0.098 benign 0.34 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a Ensembl,dbSNP rs12281 2q37.3 2 241229617C> A null W L 1264 1264 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1290456784 2q37.3 2 241229608T> C null K R 1267 1267 missense 0.062 benign 0.51 tolerated 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a gnomAD rs1229026680 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2q37.3 2 241229606G> A null R * 1268 1268 stop gained 0 A0A024R4E5 HDLBP High density lipoprotein binding protein (Vigilin), isoform CRA_a ExAC,gnomAD rs762688647 2q37.3 2 241229605C> T null R Q 1268 1268 missense 0.263 benign 0.01 deleterious 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1456174059 7q11.23 7 75994563G> A null P L 3 3 missense 0.169 benign 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1456174059 7q11.23 7 75994563G> C null P R 3 3 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782006094 7q11.23 7 75994564G> A null P S 3 3 missense 0.395 benign 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782783790 7q11.23 7 75994560G> A null P L 4 4 missense 0.178 benign 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781943398 7q11.23 7 75994558G> C null P A 5 5 missense 0.029 benign 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs367841388 7q11.23 7 75994557G> T null P H 5 5 missense 0.142 benign 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs367841388 7q11.23 7 75994557G> C null P R 5 5 missense 0.777 possibly damaging 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781943398 7q11.23 7 75994558G> A null P S 5 5 missense 0.108 benign 0.13 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782030674 7q11.23 7 75994554G> A null P L 6 6 missense 0.178 benign 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782030674 7q11.23 7 75994554G> C null P R 6 6 missense 0.981 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1402644247 7q11.23 7 75994551C> T null G D 7 7 missense 0.268 benign 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562779 7q11.23 7 75994548G> A null P L 8 8 missense 1.0 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868981119 7q11.23 7 75994549G> A null P S 8 8 missense 0.999 probably damaging 0.19 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868981119 7q11.23 7 75994549G> T null P T 8 8 missense 1.0 probably damaging 0.05 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs909290583 7q11.23 7 75994543C> T null G S 10 10 missense 0.664 possibly damaging 0.29 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562772 7q11.23 7 75994542C> A null G V 10 10 missense 0.991 probably damaging 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374489610 7q11.23 7 75994531G> C null R G 14 14 0.002196 missense 0.966 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782567251 7q11.23 7 75994530C> T null R Q 14 14 missense 0.41 benign 0.05 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374489610 7q11.23 7 75994531G> A null R W 14 14 0.002196 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562762 7q11.23 7 75994524C> A null W L 16 16 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1259428794 7q11.23 7 75994518T> C null D G 18 18 missense 0.561 possibly damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868916302 7q11.23 7 75994513G> C null Q E 20 20 missense 0.878 possibly damaging 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs868916302 7q11.23 7 75994513G> T null Q K 20 20 missense 0.878 possibly damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868936379 7q11.23 7 75994507C> A null D Y 22 22 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs559466676 7q11.23 7 75994502G> T null F L 23 23 2.0E-4 missense 0.877 possibly damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562749 7q11.23 7 75994501G> C null Q E 24 24 missense 0.155 benign 0.11 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1212705862 7q11.23 7 75994498T> C null N D 25 25 missense 0.62 possibly damaging 0.12 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782653316 7q11.23 7 75994493G> C null I M 26 26 missense 0.952 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1475168133 7q11.23 7 75994491T> C null Q R 27 27 missense 0.837 possibly damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562118 7q11.23 7 75992555C> G null E D 28 28 missense 0.185 benign 0.13 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1161823601 7q11.23 7 75992556T> A null E V 28 28 missense 0.986 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562115 7q11.23 7 75992553G> T null T N 29 29 missense 0.261 benign 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1390539107 7q11.23 7 75992554T> G null T P 29 29 missense 0.962 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,TOPMed,gnomAD rs370222222 7q11.23 7 75992550T> C null H R 30 30 missense 0.498 possibly damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs982855347 7q11.23 7 75992547C> G null R P 31 31 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs982855347 7q11.23 7 75992547C> T null R Q 31 31 missense 0.987 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781814451 7q11.23 7 75992548G> A null R W 31 31 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782574941 7q11.23 7 75992539G> A null R C 34 34 missense 1.0 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1026911558 7q11.23 7 75992538C> T null R H 34 34 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1026911558 7q11.23 7 75992538C> A null R L 34 34 missense 0.999 probably damaging 0.24 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1563445001 7q11.23 7 75992512G> A null L F 43 43 missense 1.0 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4732519 7q11.23 7 75992509G> A null Q * 44 44 0.0 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4732519 7q11.23 7 75992509G> C null Q E 44 44 0.0 missense 0.995 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1249562189 7q11.23 7 75992506T> C null N D 45 45 missense 0.038 benign 0.38 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1188055132 7q11.23 7 75992502T> C null N S 46 46 missense 0.108 benign 0.73 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782111803 7q11.23 7 75992498G> T null C * 47 47 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1257740461 7q11.23 7 75992500A> C null C G 47 47 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1257740461 7q11.23 7 75992500A> G null C R 47 47 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1421676997 7q11.23 7 75992499C> T null C Y 47 47 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376971210 7q11.23 7 75992492G> T null S R 49 49 missense 0.948 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562082 7q11.23 7 75992491A> C null S A 50 50 missense 0.174 benign 0.13 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs540771278 7q11.23 7 75992484G> A null T M 52 52 2.0E-4 missense 0.983 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs368355993 7q11.23 7 75992481C> A null R L 53 53 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs368355993 7q11.23 7 75992481C> T null R Q 53 53 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782405727 7q11.23 7 75992482G> A null R W 53 53 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1394483896 7q11.23 7 75992479G> C null Q E 54 54 missense 0.995 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1312323786 7q11.23 7 75992478T> C null Q R 54 54 missense 0.998 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1326759436 7q11.23 7 75992473T> G null K Q 56 56 missense 1.0 probably damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199834444 7q11.23 7 75992472T> C null K R 56 56 2.0E-4 missense 0.999 probably damaging 0.19 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781983762 7q11.23 7 75992469C> T null R Q 57 57 missense 0.055 benign 0.08 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1272305390 7q11.23 7 75992470G> A null R W 57 57 missense 0.982 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782353976 7q11.23 7 75992458G> T null L M 61 61 missense 0.918 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782200874 7q11.23 7 75992454G> C null A G 62 62 missense 0.132 benign 0.11 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1011359693 7q11.23 7 75992449C> T null A T 64 64 missense 0.163 benign 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562061 7q11.23 7 75992445A> C null L R 65 65 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554562060 7q11.23 7 75992443T> C null K E 66 66 missense 0.96 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782361216 7q11.23 7 75992257G> C null C W 68 68 missense 0.995 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1473625652 7q11.23 7 75992258C> T null C Y 68 68 missense 0.986 probably damaging 0.71 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs149750507 7q11.23 7 75992253G> T null P T 70 70 0.01038 missense 0.748 possibly damaging 0.25 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs371384423 7q11.23 7 75992249G> A null S F 71 71 missense 0.99 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs371384423 7q11.23 7 75992249G> T null S Y 71 71 missense 0.99 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,gnomAD rs368479303 7q11.23 7 75992243G> A null P L 73 73 missense 0.127 benign 0.11 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782449232 7q11.23 7 75992231T> C null E G 77 77 missense 0.458 possibly damaging 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs374738520 7q11.23 7 75992232C> T null E K 77 77 missense 0.066 benign 0.54 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561979 7q11.23 7 75992229C> G null G R 78 78 missense 0.343 benign 0.21 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1347949322 7q11.23 7 75992225G> A null A V 79 79 missense 0.925 probably damaging 0.41 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782820867 7q11.23 7 75992223C> T null A T 80 80 missense 0.41 benign 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561970 7q11.23 7 75992222G> A null A V 80 80 missense 0.261 benign 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl,dbSNP rs17852664 pubmed:15489334 7q11.23 7 75992204T> C null Q R 86 86 missense 0.958 probably damaging 0.21 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782150303 7q11.23 7 75992201A> C null M R 87 87 missense 0.343 benign 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs782753035 7q11.23 7 75992195T> C null E G 89 89 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201059329 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75992193G> A null R C 90 90 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782756092 7q11.23 7 75992192C> T null R H 90 90 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782756092 7q11.23 7 75992192C> G null R P 90 90 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561953 7q11.23 7 75992186C> G null G A 92 92 missense 0.967 probably damaging 0.48 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781949687 7q11.23 7 75992172T> C null M V 97 97 missense 0.992 probably damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561949 7q11.23 7 75992168T> C null E G 98 98 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782309975 7q11.23 7 75992165G> C null A G 99 99 missense 0.96 probably damaging 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1275990997 7q11.23 7 75992149C> A null K N 104 104 missense 0.933 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868972984 7q11.23 7 75989221C> A null L F 107 107 missense 0.979 probably damaging 0.1 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1445987420 7q11.23 7 75989222A> G null L S 107 107 missense 0.958 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561311 7q11.23 7 75989220A> G null Y H 108 108 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781982538 7q11.23 7 75989211G> C null L V 111 111 missense 0.953 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561307 7q11.23 7 75989202C> A null G W 114 114 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs531304901 7q11.23 7 75989196C> T null V I 116 116 3.99E-4 missense 0.935 probably damaging 0.12 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,TOPMed,gnomAD rs371074253 7q11.23 7 75989192T> C null N S 117 117 missense 0.327 benign 0.18 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1260448124 7q11.23 7 75989189A> C null V G 118 118 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782307627 7q11.23 7 75989190C> T null V I 118 118 missense 0.955 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782307627 7q11.23 7 75989190C> G null V L 118 118 missense 0.948 probably damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs567816984 7q11.23 7 75989186G> A null T M 119 119 2.0E-4 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1256870328 7q11.23 7 75989175T> C null K E 123 123 missense 0.909 probably damaging 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554561291 7q11.23 7 75989171T> G null Q P 124 124 missense 0.974 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868912455 7q11.23 7 75989168G> T null A D 125 125 missense 1.0 probably damaging 0.31 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs916296075 7q11.23 7 75989165T> C null K R 126 126 missense 0.395 benign 0.24 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560801 7q11.23 7 75988508T> C null Y C 129 129 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560798 7q11.23 7 75988506T> C null K E 130 130 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140919124 7q11.23 7 75988501G> C null D E 131 131 2.0E-4 missense 0.931 probably damaging 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140919124 7q11.23 7 75988501G> T null D E 131 131 2.0E-4 missense 0.931 probably damaging 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782766666 7q11.23 7 75988500C> A null E * 132 132 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782766666 7q11.23 7 75988500C> T null E K 132 132 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782107848 7q11.23 7 75988493T> G null E A 134 134 missense 0.909 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781959690 7q11.23 7 75988490T> C null K R 135 135 missense 0.951 probably damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560793 7q11.23 7 75988485T> C null K E 137 137 missense 0.827 possibly damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782717399 7q11.23 7 75988482G> C null L V 138 138 missense 0.937 probably damaging 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1016885882 7q11.23 7 75988478T> G null Y S 139 139 missense 0.962 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560781 7q11.23 7 75988476G> T null L I 140 140 missense 0.45 possibly damaging 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560781 7q11.23 7 75988476G> C null L V 140 140 missense 0.451 possibly damaging 0.2 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1396371148 7q11.23 7 75988470T> C null I V 142 142 missense 0.878 possibly damaging 0.18 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1364081163 7q11.23 7 75988451G> C null S C 148 148 missense 0.99 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372405984 7q11.23 7 75988448A> C null F C 149 149 3.99E-4 missense 0.987 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782560822 7q11.23 7 75988443A> T null C S 151 151 missense 0.966 probably damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,NCI-TCGA,TOPMed,gnomAD rs782555331 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75988440G> A null R C 152 152 missense 0.999 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782279908 7q11.23 7 75988439C> T null R H 152 152 missense 0.999 probably damaging 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782501281 7q11.23 7 75988424G> A null S F 157 157 missense 0.974 probably damaging 0.24 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781942050 7q11.23 7 75988340C> T null V M 159 159 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560712 7q11.23 7 75988336G> A null T I 160 160 missense 0.805 possibly damaging 0.13 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782310318 7q11.23 7 75988321T> C null N S 165 165 missense 0.792 possibly damaging 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782372847 7q11.23 7 75988303T> C null Y C 171 171 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,NCI-TCGA,gnomAD rs782229519 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75988297C> T null C Y 173 173 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1189157008 7q11.23 7 75988294G> A null T I 174 174 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782464296 7q11.23 7 75988291A> G null L P 175 175 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560704 7q11.23 7 75988289T> C null T A 176 176 missense 0.907 possibly damaging 0.05 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs200635965 7q11.23 7 75988282C> A null R L 178 178 missense 0.419 benign 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs200635965 7q11.23 7 75988282C> T null R Q 178 178 missense 0.976 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs372926266 7q11.23 7 75988283G> A null R W 178 178 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs369106841 7q11.23 7 75988277T> C null S G 180 180 missense 0.209 benign 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560696 7q11.23 7 75988276C> G null S T 180 180 missense 0.909 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1350140598 7q11.23 7 75988273A> G null I T 181 181 missense 0.917 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782713297 7q11.23 7 75988271G> A null L F 182 182 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782051407 7q11.23 7 75988270A> G null L P 182 182 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782810677 7q11.23 7 75988267A> G null I T 183 183 missense 0.966 probably damaging 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1554560687 7q11.23 7 75988265T> C null N D 184 184 missense 0.909 probably damaging 0.05 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782136567 7q11.23 7 75988264T> C null N S 184 184 missense 0.327 benign 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,NCI-TCGA,TOPMed,gnomAD rs782345420 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75988259C> T null G S 186 186 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782409607 7q11.23 7 75988252C> T null R Q 188 188 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs556085933 7q11.23 7 75988253G> A null R W 188 188 2.0E-4 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,gnomAD rs534499056 7q11.23 7 75988249C> T null W * 189 189 2.0E-4 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs373139417 7q11.23 7 75988248C> T null W * 189 189 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782635915 7q11.23 7 75988250A> C null W G 189 189 missense 0.001 benign 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782635915 7q11.23 7 75988250A> G null W R 189 189 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,gnomAD rs534499056 7q11.23 7 75988249C> G null W S 189 189 2.0E-4 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782460399 7q11.23 7 75988246G> T null A E 190 190 missense 0.009 benign 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782460399 7q11.23 7 75988246G> C null A G 190 190 missense 0.04 benign 0.05 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560674 7q11.23 7 75988247C> T null A T 190 190 missense 0.054 benign 0.05 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782460399 7q11.23 7 75988246G> A null A V 190 190 missense 0.054 benign 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1250391092 7q11.23 7 75988244C> T null G R 191 191 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1028117665 7q11.23 7 75988240C> T null R Q 192 192 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs374980586 7q11.23 7 75988241G> A null R W 192 192 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs368177681 7q11.23 7 75988238C> T null A T 193 193 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560663 7q11.23 7 75988234A> T null L Q 194 194 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560659 7q11.23 7 75988228T> C null E G 196 196 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782743996 7q11.23 7 75988225C> T null G E 197 197 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781874900 7q11.23 7 75988226C> T null G R 197 197 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782080464 7q11.23 7 75988222C> T null S N 198 198 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,gnomAD rs551699229 7q11.23 7 75988218C> T null M I 199 199 2.0E-4 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1563440220 7q11.23 7 75988219A> G null M T 199 199 missense 0.0 unknown 0.24 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs370443613 7q11.23 7 75988212C> T null W * 201 201 3.99E-4 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142196931 7q11.23 7 75988214A> G null W R 201 201 0.002196 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782006582 7q11.23 7 75988211C> T null G S 202 202 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782234411 7q11.23 7 75988208C> T null A T 203 203 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781974824 7q11.23 7 75988207G> A null A V 203 203 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC rs782205966 7q11.23 7 75988202T> C null T A 205 205 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1314409830 7q11.23 7 75988199G> A null L F 206 206 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782575102 7q11.23 7 75988198A> C null L R 206 206 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372363121 7q11.23 7 75988195C> G null R P 207 207 2.0E-4 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372363121 7q11.23 7 75988195C> T null R Q 207 207 2.0E-4 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1044127445 7q11.23 7 75988196G> A null R W 207 207 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560626 7q11.23 7 75988183G> A null T I 211 211 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs782604571 7q11.23 7 75988181C> T null G S 212 212 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs371798181 7q11.23 7 75988178C> T null A T 213 213 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560610 7q11.23 7 75988174C> G null G A 214 214 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs185977178 7q11.23 7 75988172C> T null G S 215 215 2.0E-4 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781896643 7q11.23 7 75988171C> A null G V 215 215 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1563440073 7q11.23 7 75988162C> T null G D 218 218 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560600 7q11.23 7 75988163C> T null G S 218 218 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368049231 7q11.23 7 75988160A> C null S A 219 219 2.0E-4 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782122031 7q11.23 7 75988159G> A null S F 219 219 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560592 7q11.23 7 75988154G> A null L F 221 221 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560590 7q11.23 7 75988151G> A null Q * 222 222 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1209911483 7q11.23 7 75988150T> G null Q P 222 222 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560580 7q11.23 7 75988146A> T null D E 223 223 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782743658 7q11.23 7 75988148C> T null D N 223 223 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560577 7q11.23 7 75988145G> C null Q E 224 224 missense 0.0 unknown 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1184812309 7q11.23 7 75988136C> G null V L 227 227 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1184812309 7q11.23 7 75988136C> T null V M 227 227 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1389635118 7q11.23 7 75988132C> G null G A 228 228 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1389635118 7q11.23 7 75988132C> T null G D 228 228 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560558 7q11.23 7 75988129A> G null V A 229 229 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560560 7q11.23 7 75988130C> T null V I 229 229 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782085273 7q11.23 7 75988127G> A null P S 230 230 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373610271 7q11.23 7 75988118G> A null R C 233 233 3.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs199749808 7q11.23 7 75988117C> T null R H 233 233 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl,dbSNP rs17855697 pubmed:15489334 7q11.23 7 75988111T> C null H R 235 235 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs201406245 7q11.23 7 75988112G> A null H Y 235 235 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782018052 7q11.23 7 75988109G> A null L F 236 236 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560546 7q11.23 7 75988108A> G null L P 236 236 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1413678225 7q11.23 7 75988105G> A null P L 237 237 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376297554 7q11.23 7 75988100C> T null G R 239 239 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782318093 7q11.23 7 75988091C> T null A T 242 242 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560542 7q11.23 7 75988088C> T null D N 243 243 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374331144 7q11.23 7 75988085C> T null V M 244 244 2.0E-4 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376995698 7q11.23 7 75987981G> A null R * 246 246 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781876346 7q11.23 7 75987980C> G null R P 246 246 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781876346 7q11.23 7 75987980C> T null R Q 246 246 missense 0.0 unknown 0.61 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782491183 7q11.23 7 75987978G> C null R G 247 247 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372514117 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75987977C> T null R Q 247 247 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782491183 7q11.23 7 75987978G> A null R W 247 247 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782704684 7q11.23 7 75987975A> G null S P 248 248 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782158646 7q11.23 7 75987971T> C null H R 249 249 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC rs781967880 7q11.23 7 75987968A> G null V A 250 250 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782111928 7q11.23 7 75987969C> T null V I 250 250 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782111928 7q11.23 7 75987969C> A null V L 250 250 missense 0.0 unknown 0.64 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560418 7q11.23 7 75987963C> T null E K 252 252 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs888199370 7q11.23 7 75987956G> A null P L 254 254 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs888199370 7q11.23 7 75987956G> T null P Q 254 254 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1162088558 7q11.23 7 75987948T> G null I L 257 257 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1048049957 7q11.23 7 75987942G> A null L F 259 259 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1048049957 7q11.23 7 75987942G> C null L V 259 259 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560405 7q11.23 7 75987933G> A null H Y 262 262 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs782693536 7q11.23 7 75987930C> T null V I 263 263 missense 0.0 unknown 0.63 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560399 7q11.23 7 75987923T> C null E G 265 265 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,TOPMed,gnomAD rs555840167 7q11.23 7 75987806G> A null R C 267 267 2.0E-4 missense 0.0 unknown 0.61 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,NCI-TCGA,TOPMed,gnomAD rs782572304 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75987805C> T null R H 267 267 missense 0.0 unknown 0.22 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560334 7q11.23 7 75987800C> G null V L 269 269 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560330 7q11.23 7 75987796G> A null S F 270 270 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,TOPMed rs374150422 7q11.23 7 75987794G> C null P A 271 271 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781909858 7q11.23 7 75987784A> G null L P 274 274 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1230728714 7q11.23 7 75987782G> A null P S 275 275 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs543501547 7q11.23 7 75987775C> T null R Q 277 277 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782801337 7q11.23 7 75987776G> A null R W 277 277 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560306 7q11.23 7 75987770G> A null P S 279 279 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC rs781853213 7q11.23 7 75987766A> G null L P 280 280 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782082182 7q11.23 7 75987763G> A null P L 281 281 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782763009 7q11.23 7 75987764G> A null P S 281 281 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs781943871 7q11.23 7 75987757G> A null A V 283 283 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1193775361 7q11.23 7 75987755C> T null G S 284 284 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376483231 7q11.23 7 75987751G> T null A D 285 285 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781997749 7q11.23 7 75987752C> T null A T 285 285 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs376483231 7q11.23 7 75987751G> A null A V 285 285 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782220788 7q11.23 7 75987746G> A null R * 287 287 stop gained 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782587381 7q11.23 7 75987745C> T null R Q 287 287 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374985692 7q11.23 7 75987742G> A null A V 288 288 2.0E-4 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782543570 7q11.23 7 75987739G> T null A E 289 289 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1454682552 7q11.23 7 75987737G> A null H Y 290 290 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN 1000Genomes,ExAC,gnomAD rs566879698 7q11.23 7 75987734G> A null H Y 291 291 2.0E-4 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560282 7q11.23 7 75987730C> T null G E 292 292 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1161992953 7q11.23 7 75987727G> C null P R 293 293 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782633931 7q11.23 7 75987725G> A null H Y 294 294 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782480607 7q11.23 7 75987719C> T null G R 296 296 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1251507828 7q11.23 7 75987601C> T null G R 297 297 missense 0.0 unknown 0.3 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560198 7q11.23 7 75987595G> A null P S 299 299 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782117913 7q11.23 7 75987591A> C null V G 300 300 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs377729252 7q11.23 7 75987592C> T null V I 300 300 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs781935263 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75987586C> G null D H 302 302 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs781935263 7q11.23 7 75987586C> T null D N 302 302 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs62475303 7q11.23 7 75987583C> T null V M 303 303 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs781973486 7q11.23 7 75987579G> A null A V 304 304 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ESP,ExAC,TOPMed,gnomAD rs373027190 7q11.23 7 75987577C> T null G R 305 305 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1554560180 7q11.23 7 75987574G> C null P A 306 306 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1422107927 7q11.23 7 75987571G> T null H N 307 307 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1164198145 7q11.23 7 75987569G> C null H Q 307 307 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1422107927 7q11.23 7 75987571G> A null H Y 307 307 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782398579 7q11.23 7 75987568G> A null L F 308 308 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560173 7q11.23 7 75987567A> T null L H 308 308 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560173 7q11.23 7 75987567A> G null L P 308 308 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782252864 7q11.23 7 75987565G> A null P S 309 309 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,TOPMed,gnomAD rs782618758 7q11.23 7 75987562C> G null A P 310 310 missense 0.0 unknown 0.67 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1369706656 7q11.23 7 75987558G> A null A V 311 311 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560168 7q11.23 7 75987556A> G null F L 312 312 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN ExAC,gnomAD rs782489821 7q11.23 7 75987554A> C null F L 312 312 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1304485482 7q11.23 7 75987552G> A null S F 313 313 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1376951671 7q11.23 7 75987550A> G null F L 314 314 missense 0.0 unknown 0.5 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs1563438991 7q11.23 7 75987547G> A null L F 315 315 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed rs1227200385 7q11.23 7 75987543C> T null W * 316 316 missense 0 A0A024R4K9 TMEM120A Ion channel TACAN TOPMed,gnomAD rs1004365572 7q11.23 7 75987538G> A null L F 318 318 missense 0.0 unknown 0.84 tolerated - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN Ensembl rs868984702 7q11.23 7 75987422G> T null A E 320 320 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R4K9 TMEM120A Ion channel TACAN gnomAD rs1554560087 7q11.23 7 75987415A> C null F L 322 322 missense 0.0 unknown 0.91 tolerated - low confidence 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs371917521 11q13.1 11 64878484G> C null A G 8 8 missense 0.012 benign 0.24 tolerated - low confidence 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs942189964 11q13.1 11 64878478G> T null P H 10 10 missense 0.0 benign 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1163371888 11q13.1 11 64878472G> T null S Y 12 12 missense 0.0 benign 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1403765042 11q13.1 11 64878470C> G null G R 13 13 missense 0.0 benign 0.41 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1403765042 11q13.1 11 64878470C> T null G S 13 13 missense 0.009 benign 0.49 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1178528796 11q13.1 11 64878456G> C null S R 17 17 missense 0.491 possibly damaging 0.21 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1051310913 11q13.1 11 64878454C> T null W * 18 18 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs138083441 11q13.1 11 64878448C> T null S N 20 20 missense 0.0 benign 0.54 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1369058183 11q13.1 11 64878439G> A null A V 23 23 missense 0.049 benign 0.19 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1179129822 11q13.1 11 64878437G> A null R C 24 24 missense 0.453 possibly damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs775447750 11q13.1 11 64878434G> A null R C 25 25 missense 0.648 possibly damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565726965 11q13.1 11 64878418T> G null E A 30 30 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1179575966 11q13.1 11 64878416G> C null L V 31 31 missense 0.358 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs988164257 11q13.1 11 64878412A> C null F C 32 32 missense 0.919 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs988164257 11q13.1 11 64878412A> G null F S 32 32 missense 0.697 possibly damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1358656321 11q13.1 11 64878406G> A null T M 34 34 missense 0.888 possibly damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1324979330 11q13.1 11 64878397T> A null E V 37 37 missense 0.127 benign 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1260210131 11q13.1 11 64878394C> T null G E 38 38 missense 1.0 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP rs145554262 11q13.1 11 64878392G> C null L V 39 39 missense 0.997 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs760385045 11q13.1 11 64878388C> T null R Q 40 40 missense 0.135 benign 0.16 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1308017189 11q13.1 11 64878385T> C null Q R 41 41 missense 0.0 benign 0.36 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs772785137 11q13.1 11 64878383G> C null L V 42 42 missense 0.997 probably damaging 0.1 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1338503780 11q13.1 11 64878379T> C null Y C 43 43 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs749640201 11q13.1 11 64878376G> C null A G 44 44 missense 0.068 benign 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs749640201 11q13.1 11 64878376G> A null A V 44 44 missense 0.04 benign 0.11 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs780540022 11q13.1 11 64878373T> C null Q R 45 45 missense 0.023 benign 0.46 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1181843765 11q13.1 11 64878365G> T null L I 48 48 missense 0.138 benign 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs770278119 11q13.1 11 64878361G> T null P H 49 49 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs527316623 11q13.1 11 64878358A> C null L R 50 50 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1241683742 11q13.1 11 64878346T> C null Y C 54 54 missense 0.967 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs781223385 11q13.1 11 64878343C> T null R H 55 55 missense 0.013 benign 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs781223385 11q13.1 11 64878343C> A null R L 55 55 missense 0.313 benign 0.43 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1270521302 11q13.1 11 64878339G> C null F L 56 56 missense 0.412 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs941501200 11q13.1 11 64878333C> G null E D 58 58 missense 0.003 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs564948518 11q13.1 11 64878330G> C null F L 59 59 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs758153764 11q13.1 11 64878313T> C null E G 65 65 missense 0.998 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,gnomAD rs371914053 11q13.1 11 64878303G> C null D E 68 68 missense 0.997 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1316872445 11q13.1 11 64878299C> A null D Y 70 70 missense 0.713 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1246454849 11q13.1 11 64878295T> C null N S 71 71 missense 0.017 benign 0.36 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1383361008 11q13.1 11 64878285C> T null M I 74 74 missense 0.98 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs765192562 11q13.1 11 64878287T> G null M L 74 74 missense 0.924 probably damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs765192562 11q13.1 11 64878287T> C null M V 74 74 missense 0.968 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs963829661 11q13.1 11 64878284C> T null V M 75 75 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs759533960 11q13.1 11 64878277A> G null L P 77 77 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1422352959 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64878275C> G null V L 78 78 missense 0.997 probably damaging 0.27 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs3205255 11q13.1 11 64878272C> T null G R 79 79 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs765959999 11q13.1 11 64878267C> G null Q H 80 80 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs765959999 11q13.1 11 64878267C> A null Q H 80 80 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs760138247 [NCI-TCGA]: Variant assessed as Somatic; impact. 11q13.1 11 64878266A> T null Y N 81 81 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1018105660 11q13.1 11 64878262C> G null S T 82 82 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1263992665 cosmic curated [Cosmic]: pancreas pubmed:24293293,cosmic_study:529 11q13.1 11 64878259G> A null T M 83 83 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1221915586 11q13.1 11 64878256C> G null G A 84 84 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1489904051 11q13.1 11 64878245A> C null F V 88 88 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1279002972 11q13.1 11 64878242T> A null I F 89 89 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs771639688 11q13.1 11 64878235T> C null H R 91 91 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1314190383 11q13.1 11 64878236G> A null H Y 91 91 missense 0.995 probably damaging 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1008556692 11q13.1 11 64878230T> G null I L 93 93 missense 0.001 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs200295706 11q13.1 11 64878225C> A null E D 94 94 2.0E-4 missense 0.995 probably damaging 0.17 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs368813242 11q13.1 11 64878219G> C null D E 96 96 missense 0.997 probably damaging 0.26 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1229517334 cosmic curated [Cosmic]: kidney cosmic_study:416 11q13.1 11 64878214G> A null P L 98 98 missense 1.0 probably damaging 0.02 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1047130806 11q13.1 11 64878205C> A null R L 101 101 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs770189746 11q13.1 11 64878199C> T null G E 103 103 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs770189746 11q13.1 11 64878199C> A null G V 103 103 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs531929623 11q13.1 11 64878191G> A null P S 106 106 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1396188944 11q13.1 11 64878170C> A null A S 113 113 missense 0.999 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs777987078 11q13.1 11 64878166A> T null V D 114 114 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1476665692 11q13.1 11 64878162C> T null M I 115 115 missense 0.98 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1303588860 11q13.1 11 64878164T> G null M L 115 115 missense 0.924 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs937096645 11q13.1 11 64878158C> A null G C 117 117 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1424987063 11q13.1 11 64878157C> T null G D 117 117 missense 0.935 probably damaging 0.11 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs758546434 11q13.1 11 64878148T> G null E A 120 120 missense 0.341 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1479513414 11q13.1 11 64878146C> T null G S 121 121 missense 1.0 probably damaging 0.16 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1271251677 11q13.1 11 64878145C> A null G V 121 121 missense 1.0 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs753021444 11q13.1 11 64878136G> C null P R 124 124 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs778829881 [NCI-TCGA]: Variant assessed as Somatic; impact. 11q13.1 11 64878133C> A null G V 125 125 missense 0.086 benign 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs542855298 11q13.1 11 64878130T> C null N S 126 126 2.0E-4 missense 0.017 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs766444274 11q13.1 11 64878124A> G null L P 128 128 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1275257456 11q13.1 11 64878125G> C null L V 128 128 missense 0.997 probably damaging 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,TOPMed,gnomAD rs140984667 11q13.1 11 64878118A> G null V A 130 130 missense 0.995 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1274970504 11q13.1 11 64878119C> A null V L 130 130 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1333678998 11q13.1 11 64878112G> A null P L 132 132 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1412002967 11q13.1 11 64878103G> A null P L 135 135 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565726582 11q13.1 11 64878098G> C null R G 137 137 missense 0.998 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1468744839 11q13.1 11 64878097C> A null R L 137 137 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1191907896 11q13.1 11 64878093C> G null K N 138 138 missense 0.999 probably damaging 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,gnomAD rs375310103 11q13.1 11 64878094T> C null K R 138 138 missense 0.997 probably damaging 0.45 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs765545026 11q13.1 11 64878092G> A null L F 139 139 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs759915884 11q13.1 11 64878088T> C null N S 140 140 missense 0.015 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1183675105 11q13.1 11 64878079C> T null G D 143 143 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1242352044 11q13.1 11 64878075G> T null N K 144 144 missense 0.744 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1458065227 11q13.1 11 64878076T> C null N S 144 144 missense 0.275 benign 0.11 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1201657003 11q13.1 11 64878074C> A null A S 145 145 missense 0.049 benign 0.42 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1201657003 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64878074C> T null A T 145 145 missense 0.498 possibly damaging 0.24 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs777063700 11q13.1 11 64878073G> A null A V 145 145 missense 0.648 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1196925130 11q13.1 11 64878068G> A null L F 147 147 missense 0.843 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565726549 11q13.1 11 64878063G> C null N K 148 148 missense 0.183 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs763748125 11q13.1 11 64874514T> A null M L 151 151 missense 0.015 benign 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs763748125 11q13.1 11 64874514T> C null M V 151 151 missense 0.001 benign 0.2 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1303958442 11q13.1 11 64874511A> T null C S 152 152 missense 0.996 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1373037767 11q13.1 11 64874508C> T null A T 153 153 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1300193499 11q13.1 11 64874505G> A null Q * 154 154 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs117115792 11q13.1 11 64874502G> C null L V 155 155 2.0E-4 missense 0.412 benign 0.42 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs773811724 11q13.1 11 64874495T> C null N S 157 157 missense 0.995 probably damaging 0.8 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs748263460 11q13.1 11 64874493G> C null P A 158 158 missense 0.015 benign 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs748263460 11q13.1 11 64874493G> T null P T 158 158 missense 0.341 benign 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs914599045 11q13.1 11 64874490C> T null V I 159 159 missense 0.996 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs139892854 11q13.1 11 64874487G> C null L V 160 160 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1216773151 11q13.1 11 64874474C> T null S N 164 164 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs202024706 11q13.1 11 64874472T> C null I V 165 165 2.0E-4 missense 0.982 probably damaging 0.11 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565724936 11q13.1 11 64874459G> C null P R 169 169 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC rs755974607 11q13.1 11 64874457C> A null G W 170 170 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1214494513 11q13.1 11 64874442C> T null E K 175 175 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1280108235 11q13.1 11 64874432C> T null R Q 178 178 missense 0.435 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs745749443 11q13.1 11 64874433G> A null R W 178 178 missense 0.957 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs921754810 11q13.1 11 64874426C> T null S N 180 180 missense 0.019 benign 0.27 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs370682065 11q13.1 11 64860336C> T null G D 182 182 missense 0.89 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs913639525 11q13.1 11 64860333T> C null Y C 183 183 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1333087395 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860321G> A null A V 187 187 missense 0.998 probably damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs777243803 cosmic curated [Cosmic]: prostate pubmed:22610119,cosmic_study:392 11q13.1 11 64860319C> T null V I 188 188 missense 0.996 probably damaging 0.04 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1458316923 11q13.1 11 64860303G> C null A G 193 193 missense 0.999 probably damaging 0.05 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs372656658 11q13.1 11 64860304C> T null A T 193 193 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1458316923 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860303G> A null A V 193 193 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs576058223 11q13.1 11 64860297C> T null R H 195 195 2.0E-4 missense 0.999 probably damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs897861323 11q13.1 11 64860295C> T null V M 196 196 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs144337563 11q13.1 11 64860289G> A null R C 198 198 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs747628133 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 11q13.1 11 64860288C> T null R H 198 198 missense 0.999 probably damaging 0.02 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs763144350 11q13.1 11 64860271C> T null D N 204 204 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1254688704 11q13.1 11 64860259G> C null L V 208 208 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs759743110 11q13.1 11 64860251G> C null I M 210 210 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1260263823 11q13.1 11 64860250A> C null S A 211 211 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1478914927 11q13.1 11 64860247C> T null D N 212 212 missense 0.998 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs771522896 11q13.1 11 64860242C> A null E D 213 213 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs746917690 11q13.1 11 64860244C> T null E K 213 213 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1380441842 11q13.1 11 64860240A> T null F Y 214 214 missense 0.992 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1314796245 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860237G> A null S L 215 215 missense 0.997 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,gnomAD rs370296006 11q13.1 11 64860233T> G null E D 216 216 missense 0.028 benign 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1334634628 11q13.1 11 64860227G> C null I M 218 218 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC rs754658374 11q13.1 11 64860229T> C null I V 218 218 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs753495293 11q13.1 11 64860223C> T null A T 220 220 missense 0.279 benign 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1360778451 11q13.1 11 64860220G> C null L V 221 221 missense 0.997 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs781659919 11q13.1 11 64860214T> C null N D 223 223 missense 0.755 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1412897403 11q13.1 11 64860208C> T null E K 225 225 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs764708094 11q13.1 11 64860204T> C null D G 226 226 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs752061690 11q13.1 11 64860205C> T null D N 226 226 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,gnomAD rs150536999 11q13.1 11 64860201T> C null K R 227 227 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs368130910 11q13.1 11 64860196G> A null R C 229 229 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs764527030 11q13.1 11 64860195C> T null R H 229 229 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565718120 11q13.1 11 64860178C> T null A T 235 235 missense 0.72 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1339079513 11q13.1 11 64860170C> G null Q H 237 237 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs938894652 11q13.1 11 64860169T> C null I V 238 238 missense 0.982 probably damaging 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs374651114 11q13.1 11 64860166C> T null E K 239 239 missense 0.157 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1353963733 11q13.1 11 64860163T> C null T A 240 240 missense 0.995 probably damaging 0.64 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs772683924 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 11q13.1 11 64860162G> A null T M 240 240 missense 0.999 probably damaging 0.18 tolerated 1 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs199636551 11q13.1 11 64860160G> A null Q * 241 241 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1292743440 11q13.1 11 64860149C> T null M I 244 244 missense 0.98 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1325840009 11q13.1 11 64860151T> A null M L 244 244 missense 0.924 probably damaging 0.1 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs766122136 11q13.1 11 64860148G> C null R G 245 245 missense 0.65 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs766122136 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860148G> A null R W 245 245 missense 0.015 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs142323286 11q13.1 11 64860145C> G null V L 246 246 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs142323286 11q13.1 11 64860145C> A null V L 246 246 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs772003242 11q13.1 11 64860139C> T null G R 248 248 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1389025678 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860130T> C null M V 251 251 missense 0.968 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs989198708 11q13.1 11 64860127A> G null W R 252 252 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs748105429 11q13.1 11 64860117C> T null G D 255 255 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs936411919 11q13.1 11 64860118C> T null G S 255 255 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1373015261 11q13.1 11 64860111A> G null I T 257 257 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1478857913 cosmic curated [Cosmic]: pancreas cosmic_study:328 11q13.1 11 64860109T> C null I V 258 258 missense 0.007 benign 0.51 tolerated 1 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs748926280 11q13.1 11 64860102G> A null T I 260 260 missense 0.839 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1290798473 11q13.1 11 64860087C> T null R K 265 265 missense 0.992 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs758930905 11q13.1 11 64860078A> C null I S 268 268 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1256112036 11q13.1 11 64860079T> C null I V 268 268 missense 0.982 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs765330673 11q13.1 11 64860076C> T null G S 269 269 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs754012326 11q13.1 11 64860073A> T null S T 270 270 missense 0.992 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1436803458 11q13.1 11 64860072G> T null S Y 270 270 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs766603148 11q13.1 11 64860070A> G null F L 271 271 missense 0.992 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs760398339 11q13.1 11 64860065C> G null W C 272 272 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ESP,ExAC,gnomAD rs137874978 11q13.1 11 64860057G> A null P L 275 275 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs772990090 11q13.1 11 64860058G> A null P S 275 275 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs774181653 11q13.1 11 64860055G> C null L V 276 276 missense 0.997 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1477129904 11q13.1 11 64860052G> A null L F 277 277 missense 0.877 possibly damaging 0.71 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1248674937 11q13.1 11 64860048A> T null I N 278 278 missense 0.894 possibly damaging 0.32 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs376041030 11q13.1 11 64860046G> A null P S 279 279 missense 0.358 benign 0.36 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs910736633 11q13.1 11 64860043C> T null D N 280 280 missense 0.663 possibly damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs745572506 11q13.1 11 64860039T> C null N S 281 281 missense 0.995 probably damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,NCI-TCGA,gnomAD rs145274478 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860037G> A null R C 282 282 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs758729682 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860036C> T null R H 282 282 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,gnomAD rs145274478 11q13.1 11 64860037G> T null R S 282 282 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1237944390 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64860019C> T null E K 288 288 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1376582279 11q13.1 11 64860012T> C null Q R 290 290 missense 0.287 benign 0.27 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs780177579 11q13.1 11 64859995T> A null I F 296 296 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1427467380 11q13.1 11 64859982G> A null P L 300 300 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs767299233 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64859979C> T null R Q 301 301 missense 0.044 benign 0.18 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs761533385 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64859974C> T null A T 303 303 missense 0.998 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375367567 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11q13.1 11 64859971C> T null A T 304 304 0.001198 missense 0.998 probably damaging 0.08 tolerated 1 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs143108927 11q13.1 11 64859968G> C null L V 305 305 missense 0.499 possibly damaging 0.42 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1383678134 11q13.1 11 64859962T> G null K Q 307 307 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1405546039 11q13.1 11 64859953C> T null D N 310 310 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1003029260 11q13.1 11 64859941G> A null R W 314 314 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs772435067 11q13.1 11 64859938C> A null A S 315 315 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs748477384 11q13.1 11 64859935G> A null R W 316 316 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1168013810 11q13.1 11 64859928G> C null A G 318 318 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1216574356 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 11q13.1 11 64855483G> A null H Y 321 321 missense 0.519 possibly damaging 0.0 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs747303692 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64855480C> T null A T 322 322 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1219832228 11q13.1 11 64855476T> C null Y C 323 323 missense 0.952 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,TOPMed,gnomAD rs199679486 11q13.1 11 64855477A> G null Y H 323 323 missense 0.908 possibly damaging 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,TOPMed,gnomAD rs199679486 11q13.1 11 64855477A> T null Y N 323 323 missense 0.826 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC rs777398166 11q13.1 11 64855474T> C null I V 324 324 missense 0.007 benign 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs758299802 11q13.1 11 64855464G> A null S F 327 327 missense 0.522 possibly damaging 0.18 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1316115979 11q13.1 11 64855447G> C null P A 333 333 missense 0.045 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs112277567 11q13.1 11 64855429C> A null E * 339 339 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs752633828 11q13.1 11 64855425C> T null S N 340 340 missense 0.003 benign 0.56 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1462611164 11q13.1 11 64855423T> C null K E 341 341 missense 0.127 benign 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs765280172 11q13.1 11 64855419T> C null K R 342 342 missense 0.622 possibly damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs913337623 11q13.1 11 64855416T> G null K T 343 343 missense 0.697 possibly damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs890634944 11q13.1 11 64855403G> T null N K 347 347 missense 0.062 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1051928143 11q13.1 11 64855402T> C null N D 348 348 missense 0.197 benign 0.24 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1350349145 11q13.1 11 64855401T> C null N S 348 348 missense 0.019 benign 0.17 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs764406886 11q13.1 11 64855395C> T null G E 350 350 missense 0.343 benign 0.76 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs147065799 11q13.1 11 64855396C> T null G R 350 350 missense 0.478 possibly damaging 0.43 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs764406886 11q13.1 11 64855395C> A null G V 350 350 missense 0.343 benign 0.18 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1432170365 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64855391C> A null E D 351 351 missense 0.012 benign 0.28 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1468732445 11q13.1 11 64855389A> G null I T 352 352 missense 0.012 benign 0.17 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs763317796 11q13.1 11 64855384G> A null Q * 354 354 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs775905162 11q13.1 11 64855383T> G null Q P 354 354 missense 0.0 benign 0.26 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1247699756 11q13.1 11 64855380T> C null K R 355 355 missense 0.005 benign 0.39 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1198569163 11q13.1 11 64855377A> G null I T 356 356 missense 0.209 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs769343856 11q13.1 11 64855374T> A null E V 357 357 missense 0.549 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs770277984 11q13.1 11 64855372G> A null R C 358 358 missense 0.761 possibly damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs141684244 11q13.1 11 64855371C> T null R H 358 358 missense 0.616 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs369314193 11q13.1 11 64855369C> T null E K 359 359 missense 0.26 benign 0.42 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs369314193 11q13.1 11 64855369C> G null E Q 359 359 missense 0.688 possibly damaging 0.18 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1252131831 11q13.1 11 64855365T> G null H P 360 360 missense 0.377 benign 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1287331084 11q13.1 11 64855363G> A null Q * 361 361 stop gained 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs538751200 11q13.1 11 64855341G> A null P L 368 368 2.0E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs778919976 11q13.1 11 64855333G> A null R C 371 371 missense 0.498 possibly damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs754955045 11q13.1 11 64855332C> T null R H 371 371 missense 0.322 benign 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs754955045 cosmic curated [Cosmic]: liver cosmic_study:322 11q13.1 11 64855332C> A null R L 371 371 missense 0.001 benign 0.12 tolerated 1 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs753864789 11q13.1 11 64855323T> C null Q R 374 374 missense 0.024 benign 0.39 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs189447161 11q13.1 11 64854855T> G null E D 375 375 9.98E-4 missense 0.045 benign 0.15 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs189447161 11q13.1 11 64854855T> A null E D 375 375 9.98E-4 missense 0.045 benign 0.15 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1286560980 11q13.1 11 64854857C> T null E K 375 375 missense 0.615 possibly damaging 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1262602490 11q13.1 11 64854841T> C null Q R 380 380 missense 0.197 benign 0.21 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs773420368 11q13.1 11 64854837G> C null D E 381 381 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1314155782 11q13.1 11 64854835A> C null F C 382 382 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs762102313 11q13.1 11 64854834G> C null F L 382 382 missense 0.992 probably damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1339386474 11q13.1 11 64854829T> G null K T 384 384 missense 0.999 probably damaging 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1421181516 11q13.1 11 64854826A> G null F S 385 385 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs774732929 11q13.1 11 64854827A> C null F V 385 385 missense 0.995 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1159565317 11q13.1 11 64854821C> G null A P 387 387 missense 0.0 benign 0.43 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1457787267 11q13.1 11 64854820G> A null A V 387 387 missense 0.003 benign 0.13 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs1565715275 11q13.1 11 64854812G> A null P S 390 390 missense 0.301 benign 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs199557517 11q13.1 11 64854796G> A null T M 395 395 2.0E-4 missense 0.489 possibly damaging 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1209023423 11q13.1 11 64854794C> A null V L 396 396 missense 0.995 probably damaging 0.5 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs200505838 11q13.1 11 64854790T> C null D G 397 397 2.0E-4 missense 0.622 possibly damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs372649209 11q13.1 11 64854791C> T null D N 397 397 missense 0.547 possibly damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs945198650 11q13.1 11 64854784A> G null M T 399 399 missense 0.339 benign 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1275831430 11q13.1 11 64854785T> C null M V 399 399 missense 0.139 benign 0.3 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1401447662 11q13.1 11 64854779C> T null A T 401 401 missense 0.341 benign 0.48 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs751340054 11q13.1 11 64854775T> G null N T 402 402 missense 0.341 benign 0.66 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs755240501 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854773C> T null D N 403 403 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1295771316 11q13.1 11 64854768G> C null I M 404 404 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs139980253 11q13.1 11 64854770T> C null I V 404 404 missense 0.982 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1462494316 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854767C> T null A T 405 405 missense 0.998 probably damaging 0.15 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1422999914 cosmic curated [Cosmic]: large_intestine pubmed:23856246,cosmic_study:504 11q13.1 11 64854766G> A null A V 405 405 missense 0.998 probably damaging 0.04 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs368134228 11q13.1 11 64854763C> T null R Q 406 406 missense 0.435 benign 0.2 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs751013780 11q13.1 11 64854764G> A null R W 406 406 missense 0.957 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,gnomAD rs200967520 11q13.1 11 64854750C> T null M I 410 410 2.0E-4 missense 0.025 benign 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs774644717 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854745C> T null R Q 412 412 missense 0.027 benign 0.26 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs151119199 11q13.1 11 64854746G> A null R W 412 412 missense 0.91 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs768914352 11q13.1 11 64854739T> C null E G 414 414 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1214239328 11q13.1 11 64854740C> T null E K 414 414 missense 0.997 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1219969389 11q13.1 11 64854736T> C null E G 415 415 missense 0.998 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1255537229 11q13.1 11 64854737C> G null E Q 415 415 missense 0.998 probably damaging 0.12 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs763155061 11q13.1 11 64854726C> T null M I 418 418 missense 0.025 benign 0.19 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1051657504 11q13.1 11 64854716C> G null V L 422 422 missense 0.0 benign 0.68 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1051657504 11q13.1 11 64854716C> T null V M 422 422 missense 0.003 benign 0.29 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed rs775327121 11q13.1 11 64854710T> C null K E 424 424 missense 0.148 benign 0.29 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1230660399 11q13.1 11 64854707C> T null G S 425 425 missense 1.0 probably damaging 0.05 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs745758923 11q13.1 11 64854703C> T null G D 426 426 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 NCI-TCGA,gnomAD rs775486279 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854704C> T null G S 426 426 missense 1.0 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs770361784 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854701C> T null A T 427 427 missense 0.995 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1467264055 11q13.1 11 64854700G> A null A V 427 427 missense 0.991 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1397360498 11q13.1 11 64854698A> G null F L 428 428 missense 0.981 probably damaging 0.16 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs777205616 11q13.1 11 64854692C> A null G C 430 430 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs758064042 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854691C> T null G D 430 430 missense 1.0 probably damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs777205616 11q13.1 11 64854692C> T null G S 430 430 missense 1.0 probably damaging 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1194041615 11q13.1 11 64854685A> G null M T 432 432 missense 0.003 benign 0.58 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs768139342 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854671C> T null G R 437 437 missense 0.93 probably damaging 0.26 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1198360200 11q13.1 11 64854667T> G null H P 438 438 missense 0.768 possibly damaging 0.22 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs751688333 11q13.1 11 64854665C> T null G S 439 439 missense 1.0 probably damaging 0.17 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs765042811 11q13.1 11 64854647C> T null G S 445 445 missense 0.081 benign 0.81 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1404624957 11q13.1 11 64854643T> C null E G 446 446 missense 0.998 probably damaging 0.27 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145959349 [NCI-TCGA]: Variant assessed as Somatic; impact. 11q13.1 11 64854644C> T null E K 446 446 missense 0.995 probably damaging 0.48 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1173987847 11q13.1 11 64854638T> C null I V 448 448 missense 0.033 benign 0.63 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs747015075 11q13.1 11 64854633G> T null D E 449 449 missense 0.986 probably damaging 0.56 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1470506911 11q13.1 11 64854631T> C null D G 450 450 missense 0.474 possibly damaging 0.05 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1180429847 11q13.1 11 64854632C> T null D N 450 450 missense 0.239 benign 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1465592519 11q13.1 11 64854613C> G null G A 456 456 missense 0.001 benign 1.0 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1215501899 11q13.1 11 64854608C> T null D N 458 458 missense 0.819 possibly damaging 0.05 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs201012032 11q13.1 11 64854601G> A null P L 460 460 missense 1.0 probably damaging 0.14 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs778458817 11q13.1 11 64854602G> A null P S 460 460 missense 0.999 probably damaging 0.34 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146180179 11q13.1 11 64854598G> A null T I 461 461 2.0E-4 missense 0.289 benign 0.12 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1445964141 11q13.1 11 64854595T> C null Y C 462 462 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1008067847 11q13.1 11 64854591G> T null D E 463 463 missense 0.611 possibly damaging 0.09 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs200066321 11q13.1 11 64854593C> T null D N 463 463 missense 0.803 possibly damaging 0.04 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1279892217 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 11q13.1 11 64854590C> T null E K 464 464 missense 0.995 probably damaging 0.18 tolerated 1 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs910451434 11q13.1 11 64854580T> C null Y C 467 467 missense 0.942 probably damaging 0.17 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs757811551 11q13.1 11 64854577G> A null T M 468 468 missense 0.951 probably damaging 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 Ensembl rs777466279 11q13.1 11 64854574A> G null L P 469 469 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1236479445 11q13.1 11 64854575G> C null L V 469 469 missense 0.977 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,gnomAD rs558563641 11q13.1 11 64854571G> T null S Y 470 470 3.99E-4 missense 0.937 probably damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1485995284 11q13.1 11 64854568G> T null P H 471 471 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1188614152 11q13.1 11 64854566C> A null V F 472 472 missense 0.426 benign 0.28 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1188614152 11q13.1 11 64854566C> T null V I 472 472 missense 0.001 benign 0.5 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs202195664 11q13.1 11 64854561G> C null N K 473 473 missense 0.513 possibly damaging 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs759813362 11q13.1 11 64854560C> T null G S 474 474 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1487135938 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q13.1 11 64854550G> A null T M 477 477 missense 0.883 possibly damaging 0.01 deleterious 1 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed,gnomAD rs1318006288 11q13.1 11 64854545C> T null A T 479 479 missense 0.338 benign 0.38 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs576194809 11q13.1 11 64854541T> C null N S 480 480 2.0E-4 missense 0.0 benign 0.78 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs773992056 11q13.1 11 64854539C> T null A T 481 481 missense 0.665 possibly damaging 0.01 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1338109178 11q13.1 11 64854527T> A null M L 485 485 missense 0.007 benign 0.63 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs897745909 11q13.1 11 64854523A> G null V A 486 486 missense 0.08 benign 0.03 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs556269920 11q13.1 11 64854513C> G null K N 489 489 5.99E-4 missense 0.998 probably damaging 0.12 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs771446626 11q13.1 11 64854509G> A null P S 491 491 missense 0.999 probably damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs747511970 11q13.1 11 64854505T> C null N S 492 492 missense 0.969 probably damaging 0.12 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs1317090714 11q13.1 11 64854497G> C null L V 495 495 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1425367485 11q13.1 11 64854494C> T null G R 496 496 missense 0.368 benign 0.33 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs958886354 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854473C> T null D N 503 503 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs958886354 11q13.1 11 64854473C> A null D Y 503 503 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs755160517 11q13.1 11 64854470C> G null V L 504 504 missense 0.982 probably damaging 0.11 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs755160517 11q13.1 11 64854470C> T null V M 504 504 missense 0.998 probably damaging 0.08 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs754106431 11q13.1 11 64854467C> T null D N 505 505 missense 0.996 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs567807578 11q13.1 11 64854463T> C null K R 506 506 2.0E-4 missense 0.001 benign 0.87 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs370911440 11q13.1 11 64854454A> C null L R 509 509 missense 0.208 benign 0.15 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs762647797 11q13.1 11 64854446C> T null D N 512 512 missense 0.809 possibly damaging 0.45 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs367709253 11q13.1 11 64854441C> G null E D 513 513 missense 0.015 benign 0.95 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs747349369 11q13.1 11 64854437A> G null F L 515 515 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs772454605 11q13.1 11 64854433G> A null A V 516 516 missense 0.728 possibly damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs755070502 11q13.1 11 64854416T> C null I V 522 522 missense 0.968 probably damaging 0.18 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs267603107 11q13.1 11 64854392C> T null E K 530 530 missense 0.995 probably damaging 0.15 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1205468312 11q13.1 11 64854386G> A null P S 532 532 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs201518487 11q13.1 11 64854383C> T null A T 533 533 2.0E-4 missense 0.001 benign 0.6 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs762558324 11q13.1 11 64854379T> C null D G 534 534 missense 0.054 benign 0.06 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs763660911 11q13.1 11 64854380C> T null D N 534 534 missense 0.027 benign 0.1 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1291217449 11q13.1 11 64854374G> A null P S 536 536 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 1000Genomes,TOPMed,gnomAD rs529387634 11q13.1 11 64854370G> A null P L 537 537 2.0E-4 missense 0.001 benign 0.29 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs772535208 11q13.1 11 64854362C> A null V L 540 540 missense 0.022 benign 0.16 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,TOPMed,gnomAD rs772535208 11q13.1 11 64854362C> T null V M 540 540 missense 0.716 possibly damaging 0.07 tolerated 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1436949958 11q13.1 11 64854358G> A null P L 541 541 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 TOPMed rs954952083 11q13.1 11 64854347G> A null R C 545 545 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs774868370 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.1 11 64854346C> T null R H 545 545 missense 0.997 probably damaging 0.02 deleterious 0 A0A024R571 EHD1 EH domain-containing protein 1 ExAC,gnomAD rs768654185 11q13.1 11 64854341G> A null H Y 547 547 missense 0.023 benign 1.0 tolerated - low confidence 0 A0A024R571 EHD1 EH domain-containing protein 1 gnomAD rs1483024494 11q13.1 11 64854338C> T null E K 548 548 missense 0.069 benign 1.0 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1344395740 11q13.4 11 75151389C> A null P H 3 3 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1344395740 11q13.4 11 75151389C> T null P L 3 3 missense 0.612 possibly damaging 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed,gnomAD rs145530420 11q13.4 11 75151394A> T null I L 5 5 missense 0.046 benign 0.07 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs151095859 11q13.4 11 75162655G> C null G A 6 6 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs151095859 11q13.4 11 75162655G> A null G E 6 6 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs776368842 11q13.4 11 75162657C> T null P S 7 7 missense 0.121 benign 0.12 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs181644851 11q13.4 11 75162661C> T null A V 8 8 3.99E-4 missense 0.013 benign 0.7 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1053153998 11q13.4 11 75162664G> C null G A 9 9 missense 0.186 benign 0.02 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1053153998 11q13.4 11 75162664G> T null G V 9 9 missense 0.344 benign 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC rs201671639 11q13.4 11 75162668G> T null E D 10 10 2.0E-4 missense 0.547 possibly damaging 0.02 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1450364580 11q13.4 11 75162667A> T null E V 10 10 missense 0.335 benign 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1284999216 11q13.4 11 75162673C> A null P H 12 12 missense 0.569 possibly damaging 0.01 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1565533283 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q13.4 11 75162675C> T null Q * 13 13 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1350030576 11q13.4 11 75162676A> G null Q R 13 13 missense 0.018 benign 0.06 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1331570880 11q13.4 11 75162679T> C null V A 14 14 missense 0.097 benign 0.01 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs56837383 11q13.4 11 75162681C> G null P A 15 15 0.002796 missense 0.041 benign 0.06 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs56837383 11q13.4 11 75162681C> T null P S 15 15 0.002796 missense 0.042 benign 0.12 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1290540695 11q13.4 11 75162685A> C null D A 16 16 missense 0.598 possibly damaging 0.02 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs768055058 11q13.4 11 75162686C> G null D E 16 16 missense 0.03 benign 0.18 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs768055058 11q13.4 11 75162686C> A null D E 16 16 missense 0.03 benign 0.18 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1415488357 11q13.4 11 75162691A> C null E A 18 18 missense 0.097 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1427898621 11q13.4 11 75162694C> T null T I 19 19 missense 0.02 benign 0.4 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs750481996 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 11q13.4 11 75162699G> A null A T 21 21 missense 0.042 benign 0.33 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs760767910 11q13.4 11 75162700C> T null A V 21 21 missense 0.024 benign 0.48 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs754098731 11q13.4 11 75162706T> C null M T 23 23 missense 0.013 benign 0.16 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs766548153 11q13.4 11 75162705A> G null M V 23 23 missense 0.007 benign 0.19 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs528731324 11q13.4 11 75162711A> G null T A 25 25 2.0E-4 missense 0.012 benign 0.56 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs778758110 11q13.4 11 75162714G> A null E K 26 26 missense 0.462 possibly damaging 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs752503707 11q13.4 11 75162718A> G null N S 27 27 missense 0.003 benign 0.34 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs150221994 11q13.4 11 75162723C> G null P A 29 29 missense 0.012 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs746464858 11q13.4 11 75162724C> T null P L 29 29 missense 0.287 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs150221994 11q13.4 11 75162723C> T null P S 29 29 missense 0.02 benign 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs998397411 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 11q13.4 11 75162742C> T null P L 35 35 missense 0.018 benign 0.05 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1370049934 11q13.4 11 75162746C> A null D E 36 36 missense 0.001 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs770592117 11q13.4 11 75162744G> C null D H 36 36 missense 0.012 benign 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs761666858 11q13.4 11 75162748C> G null P R 37 37 missense 0.481 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1387966892 11q13.4 11 75162747C> A null P T 37 37 missense 0.034 benign 0.08 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1408186577 11q13.4 11 75162751A> C null Q P 38 38 missense 0.713 possibly damaging 0.05 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs780641592 11q13.4 11 75162756G> A null V M 40 40 missense 0.027 benign 0.24 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs769389079 11q13.4 11 75162760G> A null R Q 41 41 missense 0.012 benign 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,TOPMed,gnomAD rs745547277 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75162759C> T null R W 41 41 missense 0.814 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs765170000 11q13.4 11 75162775A> T null H L 46 46 missense 0.03 benign 0.78 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs765170000 11q13.4 11 75162775A> G null H R 46 46 missense 0.586 possibly damaging 0.36 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1017289678 11q13.4 11 75162779C> A null N K 47 47 missense 0.182 benign 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs772520935 11q13.4 11 75162782C> G null I M 48 48 missense 0.847 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs533776004 11q13.4 11 75162780A> G null I V 48 48 missense 0.073 benign 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs767405995 11q13.4 11 75163964T> C null L P 50 50 missense 0.543 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs767405995 11q13.4 11 75163964T> A null L Q 50 50 missense 0.642 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,NCI-TCGA,gnomAD rs551118953 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75163969G> A null V I 52 52 2.0E-4 missense 0.078 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1185676094 11q13.4 11 75163978C> T null H Y 55 55 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1370489724 11q13.4 11 75163981A> G null S G 56 56 missense 0.205 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs995575292 11q13.4 11 75163988T> A null L Q 58 58 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1027104068 11q13.4 11 75163994T> A null L Q 60 60 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs778109080 11q13.4 11 75163997C> G null A G 61 61 missense 0.613 possibly damaging 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs778109080 11q13.4 11 75163997C> T null A V 61 61 missense 0.062 benign 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1356915639 11q13.4 11 75164005A> G null M V 64 64 missense 0.749 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1287449612 11q13.4 11 75164012C> T null S F 66 66 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1217835956 11q13.4 11 75164014G> A null G S 67 67 missense 0.828 possibly damaging 0.11 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs769764109 11q13.4 11 75164021T> C null L P 69 69 missense 0.519 possibly damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1259715798 11q13.4 11 75164025G> C null K N 70 70 missense 0.929 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1198736683 11q13.4 11 75164024A> G null K R 70 70 missense 0.944 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs763253658 11q13.4 11 75164026A> G null S G 71 71 missense 0.073 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1410174244 11q13.4 11 75164033T> C null I T 73 73 missense 0.944 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs371781051 11q13.4 11 75164041G> A null V M 76 76 missense 0.92 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs774254668 11q13.4 11 75164050C> T null R C 79 79 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761537748 11q13.4 11 75164051G> A null R H 79 79 missense 0.987 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1414989882 11q13.4 11 75164057G> A null G D 81 81 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs750333137 11q13.4 11 75164056G> A null G S 81 81 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1323868636 11q13.4 11 75164062T> G null S A 83 83 missense 0.628 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs765864501 11q13.4 11 75164065A> G null S G 84 84 missense 0.91 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1307448279 11q13.4 11 75164066G> A null S N 84 84 missense 0.97 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs765864501 11q13.4 11 75164065A> C null S R 84 84 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs140953109 11q13.4 11 75164072C> A null T K 86 86 5.99E-4 missense 0.872 possibly damaging 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs140953109 11q13.4 11 75164072C> T null T M 86 86 5.99E-4 missense 0.918 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs140953109 11q13.4 11 75164072C> G null T R 86 86 5.99E-4 missense 0.952 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1282514172 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75164075C> T null S L 87 87 missense 0.82 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1003833651 11q13.4 11 75164078G> A null G E 88 88 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1014990551 11q13.4 11 75164080C> A null L M 89 89 missense 1.0 probably damaging 0.05 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs560919223 11q13.4 11 75164081T> A null L Q 89 89 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs757591216 11q13.4 11 75164083C> G null L V 90 90 missense 0.999 probably damaging 0.05 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1431906824 11q13.4 11 75164095A> G null N D 94 94 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1396343977 11q13.4 11 75164098G> A null E K 95 95 missense 0.343 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1464804211 11q13.4 11 75165787G> A null V M 96 96 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs780753438 11q13.4 11 75165793A> G null N D 98 98 missense 0.911 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1336953463 11q13.4 11 75165800C> T null A V 100 100 missense 0.598 possibly damaging 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs749340894 11q13.4 11 75165821A> C null Y S 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142693902 11q13.4 11 75165833G> T null R L 111 111 3.99E-4 missense 0.682 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142693902 11q13.4 11 75165833G> A null R Q 111 111 3.99E-4 missense 0.948 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1040627675 11q13.4 11 75165832C> T null R W 111 111 missense 0.992 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1362956420 11q13.4 11 75165836T> G null V G 112 112 missense 0.923 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs779220150 11q13.4 11 75165835G> T null V L 112 112 missense 0.839 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs772408748 11q13.4 11 75165841C> T null R * 114 114 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,gnomAD rs772856687 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 11q13.4 11 75165842G> A null R Q 114 114 missense 0.974 probably damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs148248368 11q13.4 11 75165844C> T null P S 115 115 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs148248368 11q13.4 11 75165844C> A null P T 115 115 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,TOPMed,gnomAD rs758977546 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q13.4 11 75165847C> T null R * 116 116 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,gnomAD rs764735701 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:24241536,cosmic_study:571 11q13.4 11 75165848G> A null R Q 116 116 missense 0.964 probably damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1377178704 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q13.4 11 75165852G> A null M I 117 117 missense 0.022 benign 0.08 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP rs367913899 11q13.4 11 75165850A> G null M V 117 117 missense 0.025 benign 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed rs141178021 11q13.4 11 75165854T> G null I S 118 118 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed rs141178021 11q13.4 11 75165854T> C null I T 118 118 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs762506817 11q13.4 11 75165856G> C null G R 119 119 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs763847000 11q13.4 11 75165863G> A null G E 121 121 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs766728788 11q13.4 11 75165871C> T null L F 124 124 missense 0.976 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1448214443 11q13.4 11 75165872T> C null L P 124 124 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC rs371587955 11q13.4 11 75165875T> C null V A 125 125 missense 0.207 benign 0.29 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs754410339 11q13.4 11 75165880C> G null L V 127 127 missense 0.073 benign 0.16 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs755602252 11q13.4 11 75165884C> A null A E 128 128 missense 0.958 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs755602252 11q13.4 11 75165884C> T null A V 128 128 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1418283706 11q13.4 11 75165886G> T null G C 129 129 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1247802515 11q13.4 11 75165897G> A null M I 132 132 missense 0.997 probably damaging 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1175843238 11q13.4 11 75165896T> G null M R 132 132 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs778081546 11q13.4 11 75165895A> G null M V 132 132 missense 0.995 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1401232471 11q13.4 11 75165904C> G null P A 135 135 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,TOPMed,gnomAD rs746738259 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75165905C> T null P L 135 135 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1220893206 11q13.4 11 75165913A> T null I F 138 138 missense 0.847 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,gnomAD rs776490379 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75165917C> T null S L 139 139 missense 0.291 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1275367891 11q13.4 11 75165919G> C null E Q 140 140 missense 0.844 possibly damaging 0.19 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1350239621 11q13.4 11 75165922C> G null P A 141 141 missense 0.782 possibly damaging 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs769789363 11q13.4 11 75165926A> G null Y C 142 142 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs375353895 11q13.4 11 75165928C> T null R C 143 143 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78648789 11q13.4 11 75165929G> A null R H 143 143 2.0E-4 missense 0.078 benign 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78648789 11q13.4 11 75165929G> T null R L 143 143 2.0E-4 missense 0.93 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs375353895 11q13.4 11 75165928C> A null R S 143 143 missense 0.277 benign 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs368465543 11q13.4 11 75165931T> G null Y D 144 144 missense 0.985 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed,gnomAD rs145010543 11q13.4 11 75165934G> A null D N 145 145 missense 0.329 benign 0.05 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs754322215 11q13.4 11 75165940A> G null T A 147 147 missense 0.012 benign 0.48 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs561594626 11q13.4 11 75165941C> T null T I 147 147 3.99E-4 missense 0.029 benign 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1433598794 11q13.4 11 75165946C> T null P S 149 149 missense 0.02 benign 0.7 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs765826108 11q13.4 11 75165949G> C null E Q 150 150 missense 0.713 possibly damaging 0.56 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs762880709 11q13.4 11 75169176A> T null D V 151 151 missense 0.339 benign 0.24 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1455536333 11q13.4 11 75169182C> T null P L 153 153 missense 0.018 benign 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1450430558 11q13.4 11 75169192C> A null F L 156 156 missense 0.012 benign 0.66 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1228243182 11q13.4 11 75169194A> G null K R 157 157 missense 0.015 benign 0.42 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs889870412 11q13.4 11 75169196G> C null A P 158 158 missense 0.011 benign 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1399675655 11q13.4 11 75169206G> T null C F 161 161 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1276519411 11q13.4 11 75169205T> C null C R 161 161 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1460619782 11q13.4 11 75169209T> G null L R 162 162 missense 0.847 possibly damaging 0.33 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs757438513 11q13.4 11 75169212C> A null P H 163 163 missense 0.952 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs757438513 11q13.4 11 75169212C> T null P L 163 163 missense 0.073 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1041268284 11q13.4 11 75169211C> A null P T 163 163 missense 0.121 benign 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs368918877 11q13.4 11 75169215C> A null T K 164 164 missense 0.012 benign 0.92 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1555138824 11q13.4 11 75169217A> G null T A 165 165 missense 0.003 benign 0.91 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,TOPMed,gnomAD rs750167927 cosmic curated [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,pubmed:24121792,cosmic_study:452,cosmic_study:557,cosmic_study:581 11q13.4 11 75169221C> T null S L 166 166 missense 0.007 benign 0.36 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs749237533 11q13.4 11 75169224C> A null A D 167 167 missense 0.073 benign 0.4 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC rs373743485 11q13.4 11 75169229G> A null A T 169 169 missense 0.018 benign 0.55 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs778535776 11q13.4 11 75169233C> T null S L 170 170 missense 0.0 benign 0.36 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1271629028 11q13.4 11 75169235G> T null A S 171 171 missense 0.381 benign 0.85 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs771806175 11q13.4 11 75169236C> T null A V 171 171 missense 0.03 benign 0.32 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,NCI-TCGA rs182191826 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75169238C> T null P S 172 172 2.0E-4 missense 0.02 benign 0.52 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs759916743 11q13.4 11 75169245A> T null N I 174 174 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1018513636 11q13.4 11 75169246T> G null N K 174 174 missense 0.999 probably damaging 0.08 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs759916743 11q13.4 11 75169245A> G null N S 174 174 missense 0.999 probably damaging 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1469722445 11q13.4 11 75169248G> A null G D 175 175 missense 0.011 benign 0.61 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs957697636 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11q13.4 11 75169263A> G null Y C 180 180 missense 0.646 possibly damaging 0.17 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs140159487 11q13.4 11 75169270A> C null E D 182 182 missense 0.615 possibly damaging 0.24 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1023345633 11q13.4 11 75169274C> T null Q * 184 184 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs113701638 11q13.4 11 75169277C> G null H D 185 185 missense 0.967 probably damaging 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs750647248 11q13.4 11 75169278A> C null H P 185 185 missense 0.989 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs113701638 11q13.4 11 75169277C> T null H Y 185 185 missense 0.984 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs779894847 11q13.4 11 75169281T> C null L P 186 186 missense 0.851 possibly damaging 0.23 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs779894847 11q13.4 11 75169281T> A null L Q 186 186 missense 0.888 possibly damaging 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs753616277 11q13.4 11 75169283A> C null S R 187 187 missense 0.104 benign 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs201813282 11q13.4 11 75169287T> C null V A 188 188 2.0E-4 missense 0.009 benign 0.11 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs754924730 cosmic curated [Cosmic]: bone pubmed:23770606,cosmic_study:486 11q13.4 11 75169286G> A null V M 188 188 missense 0.068 benign 0.39 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1328627706 11q13.4 11 75169292G> A null G R 190 190 missense 0.992 probably damaging 0.37 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1326593699 11q13.4 11 75169295A> G null I V 191 191 missense 0.045 benign 0.4 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs747623736 11q13.4 11 75169299T> C null M T 192 192 missense 0.877 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1464659355 11q13.4 11 75169298A> G null M V 192 192 missense 0.511 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed rs145304530 11q13.4 11 75169301T> C null F L 193 193 missense 0.149 benign 0.47 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs553595767 11q13.4 11 75169303C> G null F L 193 193 2.0E-4 missense 0.149 benign 0.47 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs775889132 11q13.4 11 75169305T> C null V A 194 194 missense 0.007 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,TOPMed,gnomAD rs770552231 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 11q13.4 11 75169304G> A null V M 194 194 missense 0.026 benign 0.38 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75987864 11q13.4 11 75169312G> C null Q H 196 196 0.00599 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1236903673 11q13.4 11 75169311A> G null Q R 196 196 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35199625 cosmic curated [Cosmic]: central_nervous_system pubmed:23917401,cosmic_study:552 11q13.4 11 75169325G> A null V M 201 201 0.02576 missense 0.515 possibly damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs767572143 11q13.4 11 75169331G> A null G R 203 203 missense 0.678 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1255154873 11q13.4 11 75169332G> T null G V 203 203 missense 0.02 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs773348240 11q13.4 11 75169340A> G null I V 206 206 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374600854 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75169358T> G null S A 212 212 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1159065092 11q13.4 11 75169362A> G null Y C 213 213 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs375650742 11q13.4 11 75169364A> G null I V 214 214 missense 0.998 probably damaging 0.33 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1159746186 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75169367G> A null D N 215 215 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs72559740 11q13.4 11 75169368A> T null D V 215 215 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1385088765 11q13.4 11 75169374T> A null F Y 217 217 missense 0.999 probably damaging 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1335747101 11q13.4 11 75169381C> G null H Q 219 219 missense 1.0 probably damaging 0.16 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed,gnomAD rs370297980 11q13.4 11 75169380A> G null H R 219 219 missense 1.0 probably damaging 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1412362213 11q13.4 11 75169387C> A null S R 221 221 missense 0.059 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs202235884 11q13.4 11 75169392C> T null S L 223 223 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1020352224 11q13.4 11 75169404T> A null L H 227 227 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs746538003 11q13.4 11 75169406G> A null G R 228 228 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs746538003 11q13.4 11 75169406G> T null G W 228 228 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1453133342 11q13.4 11 75169680G> A null V M 233 233 missense 0.382 benign 0.08 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1191154665 11q13.4 11 75169684C> T null T I 234 234 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1454426443 11q13.4 11 75169688G> C null M I 235 235 missense 0.012 benign 0.14 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs745520331 11q13.4 11 75169686A> G null M V 235 235 missense 0.087 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1352533205 11q13.4 11 75169693G> C null G A 237 237 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs368444230 11q13.4 11 75169692G> A null G R 237 237 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1298535685 11q13.4 11 75169696C> T null P L 238 238 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs779219127 11q13.4 11 75169695C> T null P S 238 238 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs140630595 11q13.4 11 75169701C> G null L V 240 240 missense 0.055 benign 0.79 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1214182664 11q13.4 11 75169714T> A null L Q 244 244 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1333384266 11q13.4 11 75169722C> T null L F 247 247 missense 0.16 benign 0.35 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,TOPMed,gnomAD rs762316212 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 11q13.4 11 75169731C> T null R C 250 250 missense 0.981 probably damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,TOPMed,gnomAD rs776833873 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75169732G> A null R H 250 250 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1177500336 11q13.4 11 75169753A> G null Q R 257 257 missense 0.0 benign 0.99 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs897617888 11q13.4 11 75169756T> C null M T 258 258 missense 0.885 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,gnomAD rs368772615 11q13.4 11 75172379G> A null G D 261 261 missense 0.638 possibly damaging 0.62 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs371427807 11q13.4 11 75172382G> C null G A 262 262 missense 1.0 probably damaging 0.51 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1414353313 11q13.4 11 75172381G> A null G S 262 262 missense 1.0 probably damaging 0.32 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1156965454 11q13.4 11 75172384A> T null I F 263 263 missense 0.945 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs762768069 11q13.4 11 75172385T> C null I T 263 263 missense 0.856 possibly damaging 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1431726367 11q13.4 11 75172387A> T null S C 264 264 missense 0.919 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs774259845 11q13.4 11 75172393A> G null T A 266 266 missense 0.991 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761625607 11q13.4 11 75172394C> A null T N 266 266 missense 0.919 probably damaging 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761625607 11q13.4 11 75172394C> G null T S 266 266 missense 0.983 probably damaging 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs767540264 11q13.4 11 75172402G> C null D H 269 269 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs749887671 11q13.4 11 75172403A> T null D V 269 269 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs562515081 11q13.4 11 75172409G> A null R Q 271 271 2.0E-4 missense 0.366 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1279242806 11q13.4 11 75172411T> G null W G 272 272 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs753504866 11q13.4 11 75172412G> T null W L 272 272 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1279242806 11q13.4 11 75172411T> A null W R 272 272 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs754721606 11q13.4 11 75172415T> C null V A 273 273 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs777998803 11q13.4 11 75172420G> T null A S 275 275 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1175462094 11q13.4 11 75172432G> A null G S 279 279 missense 0.819 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA rs751991584 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75172438C> T null L F 281 281 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs781732705 11q13.4 11 75172444G> A null A T 283 283 missense 0.373 benign 0.14 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150167315 cosmic curated [Cosmic]: prostate cosmic_study:435 11q13.4 11 75172450G> A null G S 285 285 0.002396 missense 0.366 benign 0.74 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1440614236 11q13.4 11 75172460C> T null A V 288 288 missense 0.108 benign 0.75 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1281835753 11q13.4 11 75172465G> A null A T 290 290 missense 0.767 possibly damaging 0.99 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1467258060 11q13.4 11 75172468G> A null A T 291 291 missense 0.953 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1279006396 11q13.4 11 75172478A> G null Y C 294 294 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1279006396 11q13.4 11 75172478A> T null Y F 294 294 missense 0.999 probably damaging 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs773995538 11q13.4 11 75172480T> A null F I 295 295 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1279042347 11q13.4 11 75172485C> A null F L 296 296 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1437075801 11q13.4 11 75172493A> G null K R 299 299 missense 0.007 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs760122376 11q13.4 11 75172500G> T null M I 301 301 missense 0.702 possibly damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs773139597 11q13.4 11 75172499T> C null M T 301 301 missense 0.913 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1393379855 11q13.4 11 75172504A> T null K * 303 303 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1455720050 11q13.4 11 75172508A> G null E G 304 304 missense 1.0 probably damaging 0.14 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl,dbSNP rs865987804 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: a breast cancer sample; somatic mutation pubmed:16959974 pubmed:22842228,cosmic_study:511 11q13.4 11 75172507G> A null E K 304 304 missense 0.999 probably damaging 0.03 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs527915181 11q13.4 11 75172513C> T null R C 306 306 2.0E-4 missense 0.001 benign 0.05 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78825186 11q13.4 11 75172514G> A null R H 306 306 0.005591 missense 0.0 benign 0.54 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs867895882 11q13.4 11 75172522C> T null Q * 309 309 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs759076545 11q13.4 11 75172526T> A null F Y 310 310 missense 0.908 possibly damaging 0.43 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs564410502 11q13.4 11 75172529G> C null R P 311 311 2.0E-4 missense 0.822 possibly damaging 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs564410502 cosmic curated [Cosmic]: lung cosmic_study:583 11q13.4 11 75172529G> A null R Q 311 311 2.0E-4 missense 0.022 benign 0.33 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs764985441 11q13.4 11 75172528C> T null R W 311 311 missense 0.021 benign 0.14 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1440864317 11q13.4 11 75172531C> T null R * 312 312 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12422149 11q13.4 11 75172532G> T null R L 312 312 0.2099 missense 0.036 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12422149 11q13.4 11 75172532G> A null R Q 312 312 0.2099 missense 0.022 benign 0.4 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs773942861 11q13.4 11 75172538T> C null V A 314 314 missense 0.005 benign 0.43 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1234944677 11q13.4 11 75172544C> T null A V 316 316 missense 0.044 benign 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs756742803 11q13.4 11 75172546G> A null V I 317 317 missense 0.003 benign 0.55 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs756742803 11q13.4 11 75172546G> C null V L 317 317 missense 0.007 benign 0.76 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs909561788 11q13.4 11 75172549A> G null T A 318 318 missense 0.001 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs199654337 11q13.4 11 75172550C> T null T I 318 318 missense 0.005 benign 0.34 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs199654337 11q13.4 11 75172550C> G null T R 318 318 missense 0.246 benign 0.42 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1458124137 11q13.4 11 75172553A> G null D G 319 319 missense 0.149 benign 0.36 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs779228894 11q13.4 11 75172559C> T null P L 321 321 missense 0.094 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,gnomAD rs373522915 11q13.4 11 75172561G> C null A P 322 322 missense 0.622 possibly damaging 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1372654057 11q13.4 11 75172568A> G null K R 324 324 missense 0.059 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1028704319 11q13.4 11 75188137G> T null G V 325 325 missense 0.03 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs762662713 11q13.4 11 75188143A> G null D G 327 327 missense 0.012 benign 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs768464119 11q13.4 11 75188146C> G null S C 328 328 missense 0.078 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1291223663 11q13.4 11 75188152C> G null S C 330 330 missense 0.646 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1306921828 11q13.4 11 75188160A> C null S R 333 333 missense 0.007 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1342142211 11q13.4 11 75188163C> G null P A 334 334 missense 0.05 benign 0.59 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs773663668 11q13.4 11 75188169G> T null E * 336 336 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs761153901 11q13.4 11 75188170A> G null E G 336 336 missense 0.02 benign 0.05 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs761153901 11q13.4 11 75188170A> T null E V 336 336 missense 0.029 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1332596112 11q13.4 11 75188173C> A null S Y 337 337 missense 0.007 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs199595373 11q13.4 11 75188176C> T null T M 338 338 missense 0.379 benign 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs760021739 11q13.4 11 75188180G> C null K N 339 339 missense 0.007 benign 0.25 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs555605508 11q13.4 11 75188183G> C null K N 340 340 missense 0.162 benign 0.11 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs971935565 11q13.4 11 75188189T> A null D E 342 342 missense 0.003 benign 0.42 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs752763309 11q13.4 11 75188188A> G null D G 342 342 missense 0.007 benign 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs928502913 11q13.4 11 75188191G> A null G D 343 343 missense 0.041 benign 0.6 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1424877096 11q13.4 11 75188196G> A null V I 345 345 missense 0.005 benign 0.21 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs758601411 11q13.4 11 75188203T> C null I T 347 347 missense 0.287 benign 0.21 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs777989657 11q13.4 11 75188206C> T null A V 348 348 missense 0.69 possibly damaging 0.14 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs147131265 11q13.4 11 75188212A> C null N T 350 350 missense 0.253 benign 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1360702702 11q13.4 11 75188221T> C null V A 353 353 missense 0.106 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1433738090 11q13.4 11 75188226C> T null Q * 355 355 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs377133671 11q13.4 11 75188231C> A null F L 356 356 missense 0.944 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1476301449 11q13.4 11 75188232A> C null I L 357 357 missense 0.065 benign 0.37 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs745803025 11q13.4 11 75188237A> C null K N 358 358 missense 0.786 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs764231184 11q13.4 11 75193218T> C null V A 359 359 missense 0.065 benign 0.52 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1016906501 11q13.4 11 75188238G> A null V I 359 359 missense 0.065 benign 0.4 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs781034608 11q13.4 11 75193224C> A null P H 361 361 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs781034608 11q13.4 11 75193224C> T null P L 361 361 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs757531078 11q13.4 11 75193223C> T null P S 361 361 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs750224640 11q13.4 11 75193227G> A null R K 362 362 missense 0.009 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1427726087 11q13.4 11 75193233T> C null L P 364 364 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1267936377 11q13.4 11 75193236T> C null L P 365 365 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs756056146 11q13.4 11 75193242C> T null T I 367 367 missense 0.571 possibly damaging 0.21 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1467693247 11q13.4 11 75193245T> C null L P 368 368 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs543049597 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75193247C> T null R C 369 369 3.99E-4 missense 0.171 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs141975187 11q13.4 11 75193248G> A null R H 369 369 missense 0.939 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1376704258 11q13.4 11 75193250C> G null H D 370 370 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs200134899 11q13.4 11 75193254C> A null P H 371 371 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs200134899 11q13.4 11 75193254C> T null P L 371 371 2.0E-4 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs200134899 11q13.4 11 75193254C> G null P R 371 371 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1464293583 11q13.4 11 75193256A> G null I V 372 372 missense 0.38 benign 0.73 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1003105244 11q13.4 11 75193260T> C null F S 373 373 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs747800964 11q13.4 11 75193266T> C null L P 375 375 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1218365501 11q13.4 11 75193269T> C null V A 376 376 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs375930243 11q13.4 11 75193283G> A null V I 381 381 missense 0.698 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs375930243 11q13.4 11 75193283G> T null V L 381 381 missense 0.149 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1385646201 11q13.4 11 75193286T> C null C R 382 382 missense 0.984 probably damaging 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1295373038 11q13.4 11 75193287G> A null C Y 382 382 missense 0.992 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1366990088 11q13.4 11 75193295T> C null S P 385 385 missense 0.972 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs980143851 11q13.4 11 75193298A> C null M L 386 386 missense 0.012 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs959270143 11q13.4 11 75193305C> T null A V 388 388 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs372375909 11q13.4 11 75193311T> C null M T 390 390 missense 0.05 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,dbSNP,gnomAD rs1621378 pubmed:10048485,pubmed:10873595,pubmed:14702039,pubmed:15489334,pubmed:17974005 11q13.4 11 75193317C> T null T I 392 392 0.0 missense 0.113 benign 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149821342 11q13.4 11 75193326C> A null P H 395 395 2.0E-4 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1378049844 11q13.4 11 75193331T> C null F L 397 397 missense 0.692 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs750183458 11q13.4 11 75193332T> A null F Y 397 397 missense 0.959 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs938789487 11q13.4 11 75193335T> C null L P 398 398 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs938789487 11q13.4 11 75193335T> G null L R 398 398 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs772797787 11q13.4 11 75193340C> T null R C 400 400 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs777679616 11q13.4 11 75193341G> A null R H 400 400 missense 0.112 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs755034833 11q13.4 11 75193353T> G null I S 404 404 missense 0.877 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs930239811 11q13.4 11 75193355A> G null T A 405 405 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs747713084 11q13.4 11 75193356C> T null T I 405 405 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs749031335 11q13.4 11 75193358G> A null A T 406 406 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1387692248 11q13.4 11 75193361T> C null S P 407 407 missense 0.16 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs368538607 11q13.4 11 75193364T> C null Y H 408 408 missense 0.956 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1342617461 11q13.4 11 75193368C> A null A D 409 409 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1040286463 11q13.4 11 75193367G> A null A T 409 409 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1230478260 11q13.4 11 75193371A> G null N S 410 410 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl,NCI-TCGA rs762752722 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75193380T> C null I T 413 413 missense 0.92 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs921877534 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75193379A> G null I V 413 413 missense 0.628 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs111782322 11q13.4 11 75193382G> C null G R 414 414 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs111782322 11q13.4 11 75193382G> A null G S 414 414 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs769193802 11q13.4 11 75193387C> G null C W 415 415 missense 0.882 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761821836 11q13.4 11 75193392C> T null S F 417 417 missense 0.481 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs773318962 11q13.4 11 75193395T> A null F Y 418 418 missense 0.225 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1206949282 11q13.4 11 75193398C> T null P L 419 419 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs200453426 11q13.4 11 75193401C> T null S L 420 420 missense 0.003 benign 0.39 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1489073015 11q13.4 11 75193400T> C null S P 420 420 missense 0.622 possibly damaging 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs200453426 11q13.4 11 75193401C> G null S W 420 420 missense 0.902 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs765284410 11q13.4 11 75193409G> C null V L 423 423 missense 0.017 benign 0.79 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,TOPMed,gnomAD rs765284410 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75193409G> A null V M 423 423 missense 0.072 benign 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs777429800 11q13.4 11 75193419T> C null V A 426 426 missense 0.615 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs757854988 11q13.4 11 75193418G> A null V M 426 426 missense 0.397 benign 0.05 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs751161747 11q13.4 11 75193421G> T null V L 427 427 missense 0.018 benign 0.68 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs757004014 11q13.4 11 75193425G> A null G D 428 428 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1420576123 11q13.4 11 75193424G> A null G S 428 428 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374986387 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75193430G> A null V I 430 430 missense 0.007 benign 0.96 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs779427466 11q13.4 11 75193436G> A null V I 432 432 missense 0.113 benign 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC rs748200665 11q13.4 11 75193440A> G null K R 433 433 missense 0.903 possibly damaging 0.22 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,TOPMed,gnomAD rs773407118 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75193443G> A null R Q 434 434 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs367795991 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 11q13.4 11 75193442C> T null R W 434 434 missense 0.988 probably damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1216935832 11q13.4 11 75193446T> C null L P 435 435 missense 0.991 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1021989150 11q13.4 11 75193445C> G null L V 435 435 missense 0.894 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs771325791 11q13.4 11 75193450C> G null H Q 436 436 missense 0.073 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs760774939 11q13.4 11 75193448C> T null H Y 436 436 missense 0.791 possibly damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1237927718 11q13.4 11 75193455G> A null G D 438 438 missense 0.786 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs759431902 11q13.4 11 75193464G> A null G E 441 441 missense 0.062 benign 0.27 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1243027542 11q13.4 11 75193466T> C null C R 442 442 missense 0.944 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs752593740 11q13.4 11 75193469G> A null G S 443 443 missense 0.007 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1173314250 11q13.4 11 75193470G> T null G V 443 443 missense 0.007 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs763008797 11q13.4 11 75193482T> C null L P 447 447 missense 0.979 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1354410447 11q13.4 11 75193488G> A null G E 449 449 missense 0.954 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs751122652 11q13.4 11 75193490A> T null M L 450 450 missense 0.001 benign 0.32 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1328647989 11q13.4 11 75193494T> C null L P 451 451 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs756839464 11q13.4 11 75193497T> C null L P 452 452 missense 0.73 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1240404717 11q13.4 11 75193499T> C null C R 453 453 missense 0.642 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs965832666 11q13.4 11 75193502C> T null L F 454 454 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs975940872 11q13.4 11 75193511A> G null S G 457 457 missense 0.018 benign 0.12 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes rs537776354 11q13.4 11 75193514C> A null L M 458 458 2.0E-4 missense 0.935 probably damaging 0.11 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1220692334 11q13.4 11 75193515T> C null L P 458 458 missense 0.952 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed rs755350290 11q13.4 11 75193518C> T null P L 459 459 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs772180722 11q13.4 11 75193520C> T null L F 460 460 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs764506717 11q13.4 11 75193523T> A null F I 461 461 missense 0.999 probably damaging 0.05 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs764506717 11q13.4 11 75193523T> G null F V 461 461 missense 0.999 probably damaging 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,gnomAD rs771234191 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q13.4 11 75193532G> A null G S 464 464 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs776993592 11q13.4 11 75193537C> G null C W 465 465 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1389051572 11q13.4 11 75193544C> A null H N 468 468 missense 0.913 probably damaging 0.05 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs146532688 11q13.4 11 75193554C> A null A E 471 471 missense 0.442 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs146532688 11q13.4 11 75193554C> T null A V 471 471 missense 0.312 benign 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1401837267 11q13.4 11 75193556G> A null G S 472 472 missense 0.933 probably damaging 0.07 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs764144223 11q13.4 11 75193563C> T null T I 474 474 missense 0.005 benign 0.37 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761344728 11q13.4 11 75193570G> T null Q H 476 476 missense 0.019 benign 0.2 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761344728 11q13.4 11 75193570G> C null Q H 476 476 missense 0.019 benign 0.2 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1185011871 11q13.4 11 75193575G> T null S I 478 478 missense 0.056 benign 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1185011871 11q13.4 11 75193575G> C null S T 478 478 missense 0.003 benign 0.27 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs940957018 11q13.4 11 75196516C> A null A D 479 479 missense 0.056 benign 0.3 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs772747925 11q13.4 11 75196525G> T null G V 482 482 missense 0.84 possibly damaging 0.11 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1475155458 11q13.4 11 75196528T> G null L R 483 483 missense 0.02 benign 0.36 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs760296169 11q13.4 11 75196533C> A null L M 485 485 missense 0.054 benign 0.22 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2306168 pubmed:14702039 11q13.4 11 75196537C> T null S F 486 486 0.1803 missense 0.0 benign 0.76 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs201163362 11q13.4 11 75196539C> T null P S 487 487 missense 0.121 benign 0.21 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1565549818 11q13.4 11 75196546G> T null C F 489 489 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114413167 11q13.4 11 75196548A> G null M V 490 490 5.99E-4 missense 0.023 benign 0.49 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs752102813 11q13.4 11 75196554G> C null A P 492 492 missense 0.0 benign 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs752102813 11q13.4 11 75196554G> T null A S 492 492 missense 0.003 benign 0.76 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs752102813 11q13.4 11 75196554G> A null A T 492 492 missense 0.062 benign 0.57 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1360987245 11q13.4 11 75196555C> T null A V 492 492 missense 0.005 benign 0.3 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs781393154 11q13.4 11 75196561C> T null S F 494 494 missense 0.162 benign 0.16 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs756358511 11q13.4 11 75196570T> C null L S 497 497 missense 0.0 benign 0.79 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs552133259 11q13.4 11 75196574C> A null D E 498 498 3.99E-4 missense 0.643 possibly damaging 0.46 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs868104786 11q13.4 11 75196573A> G null D G 498 498 missense 0.046 benign 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,gnomAD rs780355944 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75196572G> A null D N 498 498 missense 0.067 benign 0.21 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs768509882 11q13.4 11 75196575G> A null G S 499 499 missense 0.22 benign 0.39 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1483164746 11q13.4 11 75196583C> G null N K 501 501 missense 0.93 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs774081148 11q13.4 11 75196582A> G null N S 501 501 missense 0.889 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs59305495 11q13.4 11 75196592C> A null C * 504 504 5.99E-4 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1009964902 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75196593G> A null D N 505 505 missense 0.168 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1187595918 cosmic curated [Cosmic]: lung pubmed:22941188,pubmed:22941189,cosmic_study:423,cosmic_study:424 11q13.4 11 75196597C> T null P L 506 506 missense 0.007 benign 0.2 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1198823473 11q13.4 11 75196600G> A null S N 507 507 missense 0.02 benign 0.08 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1437414075 11q13.4 11 75196605C> T null R C 509 509 missense 0.761 possibly damaging 0.05 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs140407559 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75196606G> A null R H 509 509 2.0E-4 missense 0.001 benign 0.36 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs199904235 11q13.4 11 75196624C> A null P H 515 515 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs776356585 11q13.4 11 75196623C> T null P S 515 515 missense 0.307 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs776356585 11q13.4 11 75196623C> A null P T 515 515 missense 0.927 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1331031853 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q13.4 11 75196628C> A null C * 516 516 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1330735994 11q13.4 11 75196629C> T null H Y 517 517 missense 0.041 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1009122956 11q13.4 11 75196639G> C null C S 520 520 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1041554804 11q13.4 11 75196644A> C null S R 522 522 missense 0.007 benign 0.22 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1008480131 11q13.4 11 75196661T> G null D E 527 527 missense 0.0 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1356035281 11q13.4 11 75196669A> G null D G 530 530 missense 0.0 benign 0.37 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1346294353 11q13.4 11 75196675G> A null S N 532 532 missense 0.012 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61555831 11q13.4 11 75196676C> A null S R 532 532 0.07268 missense 0.012 benign 0.28 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1237021929 11q13.4 11 75196677C> T null Q * 533 533 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1192680517 11q13.4 11 75200224G> T null V F 534 534 missense 0.94 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1016197877 11q13.4 11 75200230T> C null Y H 536 536 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs753914011 11q13.4 11 75200239T> G null C G 539 539 missense 0.984 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1450653283 11q13.4 11 75200243G> T null S I 540 540 missense 0.988 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1357259611 11q13.4 11 75200245T> C null C R 541 541 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143480565 11q13.4 11 75200248G> A null V M 542 542 2.0E-4 missense 0.26 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145875125 11q13.4 11 75200262C> A null N K 546 546 3.99E-4 missense 0.098 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs138773402 11q13.4 11 75200264C> A null P H 547 547 missense 0.017 benign 0.53 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs138773402 11q13.4 11 75200264C> G null P R 547 547 missense 0.011 benign 0.31 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1436070836 11q13.4 11 75200267T> C null V A 548 548 missense 0.702 possibly damaging 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149242910 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 11q13.4 11 75200266G> A null V M 548 548 missense 0.493 possibly damaging 0.05 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs759037908 11q13.4 11 75200270T> C null L P 549 549 missense 0.003 benign 0.31 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs769449884 11q13.4 11 75200276G> T null G V 551 551 missense 0.976 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs865872713 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75200279C> T null S F 552 552 missense 0.978 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,gnomAD rs775289054 cosmic curated [Cosmic]: ovary, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:21720365,cosmic_study:331 11q13.4 11 75200283C> A null C * 553 553 missense 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1320660565 11q13.4 11 75200284G> C null D H 554 554 missense 0.964 probably damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1320660565 11q13.4 11 75200284G> A null D N 554 554 missense 0.112 benign 0.29 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs772552828 11q13.4 11 75200291C> T null T M 556 556 missense 0.796 possibly damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1490417189 11q13.4 11 75200302C> G null L V 560 560 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1397845107 11q13.4 11 75200305G> A null V M 561 561 missense 0.84 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1260809523 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75200309T> C null V A 562 562 missense 0.086 benign 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs761222395 11q13.4 11 75200308G> A null V M 562 562 missense 0.187 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1187099580 11q13.4 11 75200318T> G null L R 565 565 missense 0.642 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1023112273 11q13.4 11 75200326G> T null V F 568 568 missense 0.093 benign 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1023112273 11q13.4 11 75200326G> A null V I 568 568 missense 0.024 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1430841453 11q13.4 11 75200329A> G null S G 569 569 missense 0.045 benign 0.33 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1366377227 11q13.4 11 75200330G> T null S I 569 569 missense 0.887 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs765383081 11q13.4 11 75200339C> T null S L 572 572 missense 0.022 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs765383081 11q13.4 11 75200339C> G null S W 572 572 missense 0.85 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1184429179 11q13.4 11 75200356A> C null T P 578 578 missense 0.073 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1226067491 11q13.4 11 75200360A> G null H R 579 579 missense 0.481 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1314283576 11q13.4 11 75200362A> G null T A 580 580 missense 0.779 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs781025711 11q13.4 11 75200369C> T null S F 582 582 missense 0.888 possibly damaging 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed,gnomAD rs377570993 cosmic curated [Cosmic]: lung cosmic_study:417 11q13.4 11 75200376G> A null M I 584 584 missense 0.019 benign 0.02 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs745319884 11q13.4 11 75200375T> G null M R 584 584 missense 0.782 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1489188463 11q13.4 11 75200374A> G null M V 584 584 missense 0.13 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs956566591 11q13.4 11 75200381T> C null I T 586 586 missense 0.877 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1218664961 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75200387G> A null R K 588 588 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs576675226 11q13.4 11 75202903G> C null G A 589 589 missense 0.971 probably damaging 0.94 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs981757637 11q13.4 11 75202915A> G null E G 593 593 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,gnomAD rs199755341 11q13.4 11 75202919C> A null D E 594 594 2.0E-4 missense 1.0 probably damaging 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs267603190 11q13.4 11 75202917G> T null D Y 594 594 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs779687972 11q13.4 11 75202920A> G null K E 595 595 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1423565942 11q13.4 11 75202932G> A null V M 599 599 missense 0.943 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs748829559 11q13.4 11 75202935G> A null G S 600 600 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,gnomAD rs754635131 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 11q13.4 11 75202949G> T null M I 604 604 missense 0.769 possibly damaging 0.01 deleterious 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1177876692 11q13.4 11 75202948T> G null M R 604 604 missense 0.94 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1177876692 11q13.4 11 75202948T> C null M T 604 604 missense 0.844 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs778432643 11q13.4 11 75202952C> A null F L 605 605 missense 0.0 benign 1.0 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs747338319 11q13.4 11 75202960T> G null I S 608 608 missense 0.521 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1398060789 11q13.4 11 75203312A> G null M V 612 612 missense 0.382 benign 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs759609798 11q13.4 11 75203315C> T null P S 613 613 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs764619160 11q13.4 11 75203320C> G null S R 614 614 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs752297803 11q13.4 11 75203322C> T null P L 615 615 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1282534010 11q13.4 11 75203324G> A null V M 616 616 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs757942683 11q13.4 11 75203327A> T null I F 617 617 missense 0.786 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs777515970 11q13.4 11 75203328T> A null I N 617 617 missense 0.967 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1219263860 11q13.4 11 75203333G> A null G S 619 619 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs564567772 11q13.4 11 75203336A> G null S G 620 620 missense 0.836 possibly damaging 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs753943330 11q13.4 11 75203339G> A null A T 621 621 missense 0.666 possibly damaging 0.31 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,NCI-TCGA,gnomAD rs146349897 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75203340C> T null A V 621 621 missense 0.953 probably damaging 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs755551258 11q13.4 11 75203344C> G null I M 622 622 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs200729218 11q13.4 11 75203345G> A null D N 623 623 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs773581850 11q13.4 11 75203349C> A null T N 624 624 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs770841522 11q13.4 11 75203355G> A null C Y 626 626 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1332248906 11q13.4 11 75203365G> A null W * 629 629 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1385158679 11q13.4 11 75203377T> G null C W 633 633 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs776603215 11q13.4 11 75203378G> A null G R 634 634 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1351808451 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75203381C> T null R C 635 635 missense 0.814 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs199857166 11q13.4 11 75203382G> A null R H 635 635 2.0E-4 missense 0.012 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs199857166 11q13.4 11 75203382G> T null R L 635 635 2.0E-4 missense 0.197 benign 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,TOPMed,gnomAD rs199857166 11q13.4 11 75203382G> C null R P 635 635 2.0E-4 missense 0.794 possibly damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs774826122 11q13.4 11 75203384C> G null R G 636 636 missense 0.073 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1344892615 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75203385G> A null R Q 636 636 missense 0.044 benign 0.27 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1240718536 11q13.4 11 75203387G> T null A S 637 637 missense 0.684 possibly damaging 0.06 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs762532018 11q13.4 11 75203390G> A null V I 638 638 missense 0.814 possibly damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs762532018 11q13.4 11 75203390G> C null V L 638 638 missense 0.248 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1458711343 11q13.4 11 75203393T> C null C R 639 639 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1458711343 11q13.4 11 75203393T> A null C S 639 639 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs1183686096 11q13.4 11 75203396C> T null R C 640 640 missense 0.981 probably damaging 0.08 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs763682883 11q13.4 11 75203397G> A null R H 640 640 missense 0.169 benign 0.32 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1437473063 11q13.4 11 75203409A> G null N S 644 644 missense 0.199 benign 0.02 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs751203701 11q13.4 11 75203420C> T null R * 648 648 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs547836651 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75203421G> A null R Q 648 648 5.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,TOPMed,gnomAD rs754251441 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75203427G> A null R Q 650 650 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,NCI-TCGA,gnomAD rs144448580 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75203426C> T null R W 650 650 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs146573945 11q13.4 11 75204404A> G null I V 652 652 missense 0.024 benign 0.09 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs772535247 11q13.4 11 75204407G> A null G S 653 653 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,gnomAD rs371344315 11q13.4 11 75204411T> C null L P 654 654 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1285622490 11q13.4 11 75204414A> G null Q R 655 655 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs753242353 11q13.4 11 75204416T> C null F L 656 656 missense 0.012 benign 0.23 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1255862434 11q13.4 11 75204426A> T null K I 659 659 missense 0.935 probably damaging 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed rs375220968 11q13.4 11 75204429C> T null T I 660 660 missense 0.007 benign 0.33 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed rs375220968 11q13.4 11 75204429C> A null T K 660 660 missense 0.011 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs777974470 11q13.4 11 75204428A> T null T S 660 660 missense 0.007 benign 0.29 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs199644096 11q13.4 11 75204432G> C null G A 661 661 missense 0.953 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs199644096 11q13.4 11 75204432G> A null G D 661 661 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1206014679 11q13.4 11 75204431G> A null G S 661 661 missense 0.754 possibly damaging 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs199644096 11q13.4 11 75204432G> T null G V 661 661 missense 0.99 probably damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1208262279 11q13.4 11 75204435C> A null S Y 662 662 missense 0.851 possibly damaging 0.01 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1487971228 11q13.4 11 75204437G> A null V M 663 663 missense 0.009 benign 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1335525108 11q13.4 11 75204443T> C null C R 665 665 missense 0.972 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1219935949 11q13.4 11 75204446T> C null F L 666 666 missense 0.149 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192050675 11q13.4 11 75204448C> A null F L 666 666 2.0E-4 missense 0.149 benign 0.13 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,NCI-TCGA,TOPMed,gnomAD rs745594123 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 11q13.4 11 75204449G> A null A T 667 667 missense 0.044 benign 0.19 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,TOPMed,gnomAD rs368871107 11q13.4 11 75204453T> C null L S 668 668 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs930782525 11q13.4 11 75204459T> C null L S 670 670 missense 0.791 possibly damaging 0.16 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs1028526955 11q13.4 11 75204461G> A null A T 671 671 missense 0.052 benign 0.49 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed rs779783177 11q13.4 11 75204471G> A null R K 674 674 missense 0.873 possibly damaging 0.1 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs749219145 11q13.4 11 75204487G> C null E D 679 679 missense 0.946 probably damaging 0.03 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs773804224 11q13.4 11 75204488G> A null A T 680 680 missense 0.381 benign 0.52 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1399927760 11q13.4 11 75204491A> G null R G 681 681 missense 0.001 benign 0.6 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member Ensembl rs746506913 11q13.4 11 75204502G> C null E D 684 684 missense 0.098 benign 0.38 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed,gnomAD rs780603514 11q13.4 11 75204500G> A null E K 684 684 missense 0.001 benign 0.58 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1215773529 11q13.4 11 75204501A> T null E V 684 684 missense 0.001 benign 0.26 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member TOPMed rs1456019163 11q13.4 11 75204507G> C null R T 686 686 missense 0.001 benign 0.59 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs771653294 11q13.4 11 75204513G> C null S T 688 688 missense 0.007 benign 0.22 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs760310031 11q13.4 11 75204516C> T null P L 689 689 missense 0.012 benign 0.23 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs772905542 11q13.4 11 75204515C> T null P S 689 689 missense 0.02 benign 0.17 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,TOPMed,gnomAD rs765602544 11q13.4 11 75204519C> T null A V 690 690 missense 0.005 benign 0.04 deleterious 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs149765874 11q13.4 11 75204521G> A null V I 691 691 missense 0.024 benign 0.45 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member gnomAD rs1255622960 cosmic curated [Cosmic]: central_nervous_system pubmed:23441165,cosmic_study:474 11q13.4 11 75204524G> C null E Q 692 692 missense 0.009 benign 0.83 tolerated 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140987364 11q13.4 11 75204527C> G null Q E 693 693 3.99E-4 missense 0.024 benign 0.15 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140987364 11q13.4 11 75204527C> A null Q K 693 693 3.99E-4 missense 0.024 benign 0.58 tolerated 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs781191690 11q13.4 11 75204537T> C null L P 696 696 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs144746239 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 11q13.4 11 75204543C> T null S L 698 698 2.0E-4 missense 0.026 benign 0.06 tolerated - low confidence 1 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ExAC,gnomAD rs749062012 11q13.4 11 75204551G> A null G R 701 701 missense 0.211 benign 0.34 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,gnomAD rs202213657 11q13.4 11 75204560C> A null P T 704 704 2.0E-4 missense 0.007 benign 0.5 tolerated - low confidence 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member ESP,ExAC,TOPMed,gnomAD rs142700667 11q13.4 11 75204572C> T null R * 708 708 stop gained 0 A0A024R5I4 SLCO2B1 Solute carrier organic anion transporter family member 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs535083589 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.4 11 75204573G> A null R Q 708 708 2.0E-4 missense 0.375 benign 0.04 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1158536632 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q31.1 14 80211468C> T null G D 2 2 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ESP,ExAC,TOPMed,gnomAD rs200390046 14q31.1 14 80211462A> T null L H 4 4 missense 0.939 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1181966409 14q31.1 14 80211458G> T null S R 5 5 missense 0.864 possibly damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs756525368 14q31.1 14 80211457C> T null V I 6 6 missense 0.003 benign 0.5 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs894457956 14q31.1 14 80211453T> G null D A 7 7 missense 0.079 benign 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1255140404 14q31.1 14 80211441G> C null T R 11 11 missense 0.984 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs767741367 14q31.1 14 80211424C> T null V I 17 17 missense 0.006 benign 1.0 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs767741367 14q31.1 14 80211424C> G null V L 17 17 missense 0.077 benign 0.52 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs78670124 14q31.1 14 80211411T> C null N S 21 21 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs78670124 14q31.1 14 80211411T> G null N T 21 21 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs774131479 14q31.1 14 80211408C> A null C F 22 22 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1359514767 14q31.1 14 80211403A> T null F I 24 24 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed rs1379519737 14q31.1 14 80211400G> T null L M 25 25 missense 0.243 benign 0.03 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed rs1379519737 14q31.1 14 80211400G> C null L V 25 25 missense 0.453 possibly damaging 0.09 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase 1000Genomes,ExAC,gnomAD rs560635197 14q31.1 14 80211397C> A null A S 26 26 2.0E-4 missense 0.689 possibly damaging 0.02 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed rs1437556021 14q31.1 14 80211394G> C null L V 27 27 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs775092695 14q31.1 14 80211391A> G null Y H 28 28 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1296675037 14q31.1 14 80211387T> C null D G 29 29 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ESP,ExAC,gnomAD rs376291377 14q31.1 14 80211384G> A null S L 30 30 missense 0.742 possibly damaging 0.09 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs770622026 14q31.1 14 80211361C> A null V L 38 38 missense 0.005 benign 0.06 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs770622026 14q31.1 14 80211361C> T null V M 38 38 missense 0.066 benign 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs748438251 14q31.1 14 80211346G> A null R C 43 43 missense 0.006 benign 0.08 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1367705359 14q31.1 14 80211345C> T null R H 43 43 missense 0.781 possibly damaging 0.14 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1367705359 14q31.1 14 80211345C> A null R L 43 43 missense 0.253 benign 1.0 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1170949895 14q31.1 14 80211339T> A null K M 45 45 missense 0.891 possibly damaging 0.04 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs779114709 14q31.1 14 80211334T> G null T P 47 47 missense 0.277 benign 0.18 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1259641253 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q31.1 14 80211330C> T null R H 48 48 missense 0.36 benign 0.6 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs749389382 14q31.1 14 80211328C> G null G R 49 49 missense 0.018 benign 0.11 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs779952827 14q31.1 14 80211323C> G null E D 50 50 missense 0.169 benign 0.24 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs756684593 14q31.1 14 80211322A> T null W R 51 51 missense 0.006 benign 0.06 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1355265132 14q31.1 14 80211319G> C null R G 52 52 missense 0.614 possibly damaging 0.03 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase Ensembl rs941410719 14q31.1 14 80211318C> T null R Q 52 52 missense 0.07 benign 0.23 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1355265132 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q31.1 14 80211319G> A null R W 52 52 missense 0.897 possibly damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1265533572 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q31.1 14 80211316G> C null R G 53 53 missense 0.806 possibly damaging 0.03 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1306113696 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 14q31.1 14 80211315C> T null R H 53 53 missense 0.942 probably damaging 0.05 deleterious - low confidence 1 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1265533572 [NCI-TCGA]: Variant assessed as Somatic; impact. 14q31.1 14 80211316G> T null R S 53 53 missense 0.806 possibly damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs750873030 14q31.1 14 80211313T> C null M V 54 54 missense 0.079 benign 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase 1000Genomes,ExAC,NCI-TCGA,gnomAD rs540962070 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 14q31.1 14 80211292G> A null R C 61 61 2.0E-4 missense 0.982 probably damaging 0.0 deleterious - low confidence 1 A0A024R6J8 DIO2 Iodothyronine deiodinase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs571944276 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q31.1 14 80211291C> T null R H 61 61 2.0E-4 missense 0.992 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1041490356 14q31.1 14 80211287G> C null C W 62 62 missense 0.94 probably damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1237290682 14q31.1 14 80211279T> C null K R 65 65 missense 0.0 benign 0.54 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs944548096 14q31.1 14 80211265C> T null D N 70 70 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs751916610 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 14q31.1 14 80211258T> C null Y C 72 72 missense 0.991 probably damaging 0.0 deleterious - low confidence 1 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs762655591 14q31.1 14 80211252T> A null Q L 74 74 missense 0.871 possibly damaging 0.0 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs762655591 14q31.1 14 80211252T> C null Q R 74 74 missense 0.644 possibly damaging 0.01 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs778251642 14q31.1 14 80206334T> G null N T 76 76 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1416892699 14q31.1 14 80206331C> A null C F 77 77 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase TOPMed,gnomAD rs1416892699 14q31.1 14 80206331C> T null C Y 77 77 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase 1000Genomes,ExAC,TOPMed,gnomAD rs181652125 14q31.1 14 80206326G> A null P S 79 79 7.99E-4 missense 0.001 benign 0.65 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase 1000Genomes,ExAC,TOPMed,gnomAD rs181652125 14q31.1 14 80206326G> T null P T 79 79 7.99E-4 missense 0.017 benign 0.34 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs752282810 14q31.1 14 80206323A> G null S P 80 80 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs764872574 14q31.1 14 80206315A> T null F L 82 82 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC rs758976363 14q31.1 14 80206314T> C null S G 83 83 missense 0.037 benign 0.27 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,TOPMed,gnomAD rs376459152 14q31.1 14 80206313C> T null S N 83 83 missense 0.001 benign 0.13 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ESP,ExAC,TOPMed,gnomAD rs377114990 14q31.1 14 80206307T> C null D G 85 85 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs760563686 14q31.1 14 80206308C> T null D N 85 85 missense 0.001 benign 0.29 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs760563686 14q31.1 14 80206308C> A null D Y 85 85 missense 0.001 benign 0.05 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs763218486 14q31.1 14 80206304C> T null G E 86 86 missense 0.001 benign 0.06 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase gnomAD rs1384652173 14q31.1 14 80206301T> A null H L 87 87 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A024R6J8 DIO2 Iodothyronine deiodinase ExAC,gnomAD rs769990672 14q31.1 14 80206302G> A null H Y 87 87 missense 0.006 benign 0.1 tolerated - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1440219763 19p13.2 19 11555214A> G null V A 2 2 missense 0.294 benign 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1448245470 19p13.2 19 11555212G> A null R * 3 3 stop gained 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1313928483 19p13.2 19 11555211C> T null R Q 3 3 missense 0.417 benign 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs770322535 19p13.2 19 11555208G> C null S C 4 4 missense 0.843 possibly damaging 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs770322535 19p13.2 19 11555208G> T null S Y 4 4 missense 0.781 possibly damaging 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs777006370 19p13.2 19 11555205C> A null R L 5 5 missense 0.433 benign 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs777006370 19p13.2 19 11555205C> T null R Q 5 5 missense 0.417 benign 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed,gnomAD rs1350188356 19p13.2 19 11555206G> A null R W 5 5 missense 0.835 possibly damaging 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed,gnomAD rs1326932985 19p13.2 19 11555203G> A null L F 6 6 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1442824426 19p13.2 19 11555196G> C null A G 8 8 missense 0.0 benign 0.14 tolerated - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1187028205 19p13.2 19 11555194C> T null V I 9 9 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog 1000Genomes,ExAC,TOPMed,gnomAD rs536436224 19p13.2 19 11555188C> T null A T 11 11 0.001597 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1179378385 19p13.2 19 11555184G> A null S F 12 12 missense 0.683 possibly damaging 0.01 deleterious - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog Ensembl rs1039361740 19p13.2 19 11555180C> G null W C 13 13 missense 0.878 possibly damaging 0.0 deleterious - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1188688012 19p13.2 19 11555179C> T null V I 14 14 missense 0.003 benign 0.17 tolerated - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1432068796 19p13.2 19 11555176G> A null Q * 15 15 stop gained 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1380200908 19p13.2 19 11555175T> A null Q L 15 15 missense 0.145 benign 0.01 deleterious - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs762056453 19p13.2 19 11554360A> C null H Q 17 17 missense 0.001 benign 0.06 tolerated - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1200016374 19p13.2 19 11554362G> A null H Y 17 17 missense 0.025 benign 0.42 tolerated - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs776866141 19p13.2 19 11554358G> A null P L 18 18 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1257896290 19p13.2 19 11554359G> A null P S 18 18 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1287626109 19p13.2 19 11554355G> T null P H 19 19 missense 0.001 benign 0.05 deleterious - low confidence 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1195625825 19p13.2 19 11554346A> G null M T 22 22 missense 0.466 possibly damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs755727195 19p13.2 19 11554341G> A null R C 24 24 missense 0.95 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,NCI-TCGA,TOPMed,gnomAD rs775976345 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 19p13.2 19 11554340C> T null R H 24 24 missense 0.95 probably damaging 0.05 tolerated 1 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs770472199 19p13.2 19 11554325C> T null R Q 29 29 missense 0.057 benign 0.05 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs943633264 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.2 19 11554319G> A null P L 31 31 missense 0.683 possibly damaging 0.06 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs747766890 19p13.2 19 11554317G> A null P S 32 32 missense 0.255 benign 0.07 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ESP,ExAC,gnomAD rs140836187 19p13.2 19 11554311T> G null K Q 34 34 missense 0.865 possibly damaging 0.12 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs780117768 19p13.2 19 11554305T> C null K E 36 36 missense 0.894 possibly damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1258498950 19p13.2 19 11554304T> A null K M 36 36 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1201158191 19p13.2 19 11554300C> T null M I 37 37 missense 0.007 benign 0.37 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs758363350 19p13.2 19 11554293T> C null T A 40 40 missense 0.006 benign 0.13 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1226429862 19p13.2 19 11554292G> A null T I 40 40 missense 0.021 benign 0.24 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs757437211 19p13.2 19 11554287C> T null E K 42 42 missense 0.216 benign 0.04 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog Ensembl rs1568421265 19p13.2 19 11554278A> G null F L 45 45 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1268055126 19p13.2 19 11554275T> C null T A 46 46 missense 0.039 benign 0.14 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed,gnomAD rs1314367685 19p13.2 19 11554254C> T null E K 53 53 missense 0.127 benign 0.04 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs776021530 19p13.2 19 11554247G> A null S F 55 55 missense 0.965 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs768030543 19p13.2 19 11554245A> T null C S 56 56 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog Ensembl rs750085439 19p13.2 19 11554233T> C null M V 60 60 missense 0.591 possibly damaging 0.03 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,NCI-TCGA,TOPMed,gnomAD rs11539252 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.2 19 11554077G> A null R C 62 62 missense 0.921 probably damaging 0.01 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs11539252 19p13.2 19 11554077G> C null R G 62 62 missense 0.749 possibly damaging 0.01 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1230010558 19p13.2 19 11554074C> T null A T 63 63 missense 0.01 benign 0.07 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,NCI-TCGA,TOPMed,gnomAD rs768454338 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.2 19 11554071G> A null R C 64 64 missense 0.962 probably damaging 0.03 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ESP,ExAC,TOPMed,gnomAD rs375925429 19p13.2 19 11554070C> T null R H 64 64 missense 0.245 benign 0.11 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs745870835 19p13.2 19 11554062C> T null G R 67 67 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,TOPMed,gnomAD rs745870835 19p13.2 19 11554062C> G null G R 67 67 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog 1000Genomes,ExAC,gnomAD rs548002884 19p13.2 19 11554047T> C null T A 72 72 2.0E-4 missense 0.039 benign 0.1 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs756331430 19p13.2 19 11554040C> A null C F 74 74 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs752856314 19p13.2 19 11554032C> T null E K 77 77 missense 0.039 benign 0.61 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs781592525 19p13.2 19 11554022G> A null T M 80 80 missense 0.742 possibly damaging 0.04 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed,gnomAD rs1482580180 19p13.2 19 11554019G> A null P L 81 81 missense 0.012 benign 0.1 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed,gnomAD rs1482580180 19p13.2 19 11554019G> C null P R 81 81 missense 0.039 benign 0.4 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs752045865 19p13.2 19 11554017T> C null I V 82 82 missense 0.28 benign 0.19 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs951197696 19p13.2 19 11553798G> A null P L 88 88 missense 0.837 possibly damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog 1000Genomes,ExAC rs201351097 19p13.2 19 11553792T> C null D G 90 90 2.0E-4 missense 0.722 possibly damaging 0.05 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1301005856 19p13.2 19 11553785_11553786de l null Y * 92 92 stop gained 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs779536402 19p13.2 19 11553784T> C null S G 93 93 missense 0.017 benign 0.1 tolerated 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ExAC,gnomAD rs757786782 19p13.2 19 11553778A> T null W R 95 95 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog gnomAD rs1187443726 19p13.2 19 11553774A> G null I T 96 96 missense 0.962 probably damaging 0.04 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog TOPMed rs1295156015 19p13.2 19 11553763C> T null E K 100 100 missense 0.91 probably damaging 0.0 deleterious 0 A0A024R7E8 ELOF1 Transcription elongation factor 1 homolog ESP,ExAC,TOPMed,gnomAD rs372431965 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 19p13.2 19 11553759G> A null A V 101 101 missense 0.022 benign 0.09 tolerated 1 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1236253450 19p13.11 19 18870300G> A null P L 3 3 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1461591525 19p13.11 19 18870288C> T null G D 7 7 missense 0.0 unknown 0.69 tolerated - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs899577326 19p13.11 19 18870279C> T null G D 10 10 missense 0.0 unknown 0.34 tolerated - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs996386218 19p13.11 19 18870280C> T null G S 10 10 missense 0.0 unknown 0.65 tolerated - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1310675843 19p13.11 19 18870276T> A null H L 11 11 missense 0.0 unknown 0.19 tolerated - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1240931265 19p13.11 19 18870273T> C null H R 12 12 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs934643899 19p13.11 19 18870274G> A null H Y 12 12 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs772809060 19p13.11 19 18870270A> T null L H 13 13 missense 0.0 unknown 0.28 tolerated - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1007855858 19p13.11 19 18870268G> A null L F 14 14 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1380267256 19p13.11 19 18870267A> G null L P 14 14 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1046754957 19p13.11 19 18870265G> A null L F 15 15 missense 0.0 unknown 0.51 tolerated - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs767175863 19p13.11 19 18870264A> G null L P 15 15 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1318610564 19p13.11 19 18870258A> G null L P 17 17 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs981500523 19p13.11 19 18870255G> A null A V 18 18 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs370986101 [ClinVar]: Heterotaxia 19p13.11 19 18870253G> C null L V 19 19 9.98E-4 missense 0.0 unknown 0.23 tolerated - low confidence 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV001087916 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1274881853 19p13.11 19 18870244G> A null P S 22 22 missense 0.0 unknown 0.3 tolerated - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs774207034 19p13.11 19 18870235G> T null P T 25 25 missense 0.0 unknown 0.78 tolerated - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl,dbSNP rs1568291657 [ClinVar]: Heterotaxia 19p13.11 19 18870228G> A null T I 27 27 missense 0.0 unknown 0.45 tolerated - low confidence 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000705383 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs749115084 19p13.11 19 18870225C> T null R H 28 28 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs775090073 19p13.11 19 18870222G> A null A V 29 29 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1239987495 19p13.11 19 18870219G> A null P L 30 30 missense 0.0 unknown 0.4 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs1568291627 19p13.11 19 18870216A> G null V A 31 31 missense 0.0 unknown 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1164935305 19p13.11 19 18870217C> G null V L 31 31 missense 0.0 unknown 0.28 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1462539398 19p13.11 19 18870213G> A null P L 32 32 missense 0.0 unknown 0.26 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1198788126 19p13.11 19 18870214G> A null P S 32 32 missense 0.0 unknown 0.55 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs745755701 19p13.11 19 18870199C> T null A T 37 37 missense 0.0 unknown 0.49 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1278423148 19p13.11 19 18870196C> A null A S 38 38 missense 0.0 unknown 0.44 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs781079772 19p13.11 19 18870186T> C null Q R 41 41 missense 0.0 unknown 0.2 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs950417647 19p13.11 19 18870183G> A null A V 42 42 missense 0.0 unknown 0.05 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs758524812 19p13.11 19 18870180A> G null L P 43 43 missense 0.0 unknown 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1458299338 19p13.11 19 18870178C> T null G R 44 44 missense 0.0 unknown 0.08 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1458299338 19p13.11 19 18870178C> G null G R 44 44 missense 0.0 unknown 0.08 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1189353366 19p13.11 19 18870175G> C null L V 45 45 missense 0.0 unknown 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1351573913 19p13.11 19 18870172G> A null R C 46 46 missense 0.965 probably damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs748219517 19p13.11 19 18870162G> A null P L 49 49 missense 0.506 possibly damaging 0.04 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs748219517 19p13.11 19 18870162G> C null P R 49 49 missense 0.607 possibly damaging 0.04 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1162659067 19p13.11 19 18870163G> A null P S 49 49 missense 0.506 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1420703949 19p13.11 19 18870160G> A null Q * 50 50 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs1039214872 19p13.11 19 18870157C> T null G S 51 51 missense 0.007 benign 0.4 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1011691382 19p13.11 19 18870156C> A null G V 51 51 missense 0.281 benign 0.13 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368516114 19p13.11 19 18870151G> A null P S 53 53 3.99E-4 missense 0.99 probably damaging 0.05 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs754247769 19p13.11 19 18870145G> A null L F 55 55 missense 0.119 benign 0.31 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs756469531 19p13.11 19 18870141C> G null R P 56 56 missense 0.974 probably damaging 0.05 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs756469531 19p13.11 19 18870141C> T null R Q 56 56 missense 0.939 probably damaging 0.03 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1267733037 19p13.11 19 18870138G> T null P Q 57 57 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1220079011 19p13.11 19 18870136C> T null V I 58 58 missense 0.941 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1321489687 19p13.11 19 18870133G> T null P T 59 59 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs868299849 19p13.11 19 18870129G> A null P L 60 60 missense 0.853 possibly damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs868299849 19p13.11 19 18870129G> T null P Q 60 60 missense 0.897 possibly damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs868299849 19p13.11 19 18870129G> C null P R 60 60 missense 0.897 possibly damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs751015517 19p13.11 19 18870127C> T null V I 61 61 missense 0.018 benign 0.18 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 dbSNP,gnomAD rs934696667 [ClinVar]: Heterotaxia 19p13.11 19 18870123A> G null M T 62 62 missense 0.832 possibly damaging 0.0 deleterious 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000824225 A0A024R7N8 CERS1 Ceramide synthase 1 dbSNP,gnomAD rs1487660277 [ClinVar]: Heterotaxia 19p13.11 19 18870119C> T null W * 63 63 stop gained 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000822429 A0A024R7N8 CERS1 Ceramide synthase 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs375610429 [ClinVar]: Heterotaxia 19p13.11 19 18870118G> A null R C 64 64 missense 0.989 probably damaging 0.0 deleterious 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000470694 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1291714515 19p13.11 19 18870117C> T null R H 64 64 missense 0.976 probably damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1172586632 19p13.11 19 18870112A> G null F L 66 66 missense 0.851 possibly damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs773933484 19p13.11 19 18870109G> C null R G 67 67 missense 0.823 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1421717698 19p13.11 19 18870106G> A null R C 68 68 missense 0.846 possibly damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,dbSNP,gnomAD rs763822282 [UniProt]: found in a patient with atrioventricular canal-cleft mitral valve; unknown pathological significance pubmed:17924340 19p13.11 19 18870105C> T null R H 68 68 missense 0.015 benign 0.17 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs775390513 19p13.11 19 18870102C> T null R Q 69 69 missense 0.026 benign 0.09 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs769520095 19p13.11 19 18870098G> T null D E 70 70 missense 0.136 benign 0.27 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1189916653 19p13.11 19 18870100C> A null D Y 70 70 missense 0.699 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1239116792 19p13.11 19 18870097G> T null P T 71 71 missense 0.312 benign 0.08 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs948744401 19p13.11 19 18870091C> T null E K 73 73 missense 0.119 benign 0.11 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1337076286 19p13.11 19 18870075G> A null S L 78 78 missense 0.012 benign 0.3 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs748236096 19p13.11 19 18870072C> T null R Q 79 79 missense 0.375 benign 0.17 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs915995518 19p13.11 19 18870073G> A null R W 79 79 missense 0.815 possibly damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ExAC,TOPMed,gnomAD rs578136748 19p13.11 19 18870066G> A null T M 81 81 2.0E-4 missense 0.005 benign 0.18 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ExAC,TOPMed,gnomAD rs578136748 19p13.11 19 18870066G> C null T R 81 81 2.0E-4 missense 0.082 benign 0.15 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs941846448 19p13.11 19 18870057C> G null G A 84 84 missense 0.0 benign 0.15 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1399346223 19p13.11 19 18870058C> T null G R 84 84 missense 0.238 benign 0.14 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs991984001 19p13.11 19 18870054A> C null V G 85 85 missense 0.021 benign 0.24 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,gnomAD rs558289125 19p13.11 19 18870055C> T null V I 85 85 2.0E-4 missense 0.03 benign 0.23 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs768953358 19p13.11 19 18870051G> A null T I 86 86 missense 0.069 benign 0.18 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs983750735 19p13.11 19 18870048A> G null L P 87 87 missense 0.001 benign 0.29 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1239284345 19p13.11 19 18870042G> A null P L 89 89 missense 0.63 possibly damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs780298709 19p13.11 19 18870038G> T null C * 90 90 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs756490784 19p13.11 19 18870033A> G null V A 92 92 missense 0.954 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs750814477 19p13.11 19 18870024A> G null L P 95 95 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1472990025 19p13.11 19 18870022C> G null G R 96 96 missense 0.996 probably damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1162472780 19p13.11 19 18870018A> G null V A 97 97 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs867486870 19p13.11 19 18870016C> A null A S 98 98 missense 0.693 possibly damaging 0.31 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1311350605 19p13.11 19 18870013C> A null G * 99 99 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs752526453 19p13.11 19 18870012C> T null G E 99 99 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1025727382 19p13.11 19 18870008G> T null N K 100 100 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1375787373 19p13.11 19 18870009T> C null N S 100 100 missense 0.585 possibly damaging 0.03 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1396771162 19p13.11 19 18870007T> A null I F 101 101 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs751137635 19p13.11 19 18870005G> C null I M 101 101 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs763476348 19p13.11 19 18870004C> T null V M 102 102 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs762497401 cosmic curated [Cosmic]: large_intestine cosmic_study:375 19p13.11 19 18870001G> A null R C 103 103 missense 0.998 probably damaging 0.0 deleterious 1 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs752344406 19p13.11 19 18869993G> C null I M 105 105 missense 0.029 benign 0.02 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1438404071 19p13.11 19 18869991G> A null P L 106 106 missense 0.01 benign 0.47 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1438404071 19p13.11 19 18869991G> C null P R 106 106 missense 0.044 benign 0.74 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs764931939 19p13.11 19 18869986G> C null R G 108 108 missense 0.003 benign 0.13 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1188718821 19p13.11 19 18869985C> T null R H 108 108 missense 0.729 possibly damaging 0.03 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1188718821 19p13.11 19 18869985C> G null R P 108 108 missense 0.345 benign 0.03 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs764931939 19p13.11 19 18869986G> T null R S 108 108 missense 0.018 benign 0.26 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs766202026 19p13.11 19 18869387G> C null A G 110 110 missense 0.003 benign 0.53 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1388953182 19p13.11 19 18869388C> A null A S 110 110 missense 0.135 benign 0.82 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs766202026 19p13.11 19 18869387G> A null A V 110 110 missense 0.055 benign 0.61 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1168154098 19p13.11 19 18869384G> T null P H 111 111 missense 0.51 possibly damaging 0.48 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1168154098 19p13.11 19 18869384G> A null P L 111 111 missense 0.069 benign 0.88 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs767483299 19p13.11 19 18869385G> A null P S 111 111 missense 0.01 benign 0.57 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1200844541 19p13.11 19 18869379G> A null R W 113 113 missense 0.937 probably damaging 0.02 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ExAC,TOPMed,gnomAD rs558253917 19p13.11 19 18869376C> A null A S 114 114 2.0E-4 missense 0.081 benign 0.77 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ExAC,TOPMed,gnomAD rs558253917 19p13.11 19 18869376C> T null A T 114 114 2.0E-4 missense 0.081 benign 0.52 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs746048741 19p13.11 19 18869375G> A null A V 114 114 missense 0.015 benign 0.22 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs776966639 19p13.11 19 18869372G> A null S L 115 115 missense 0.0 benign 0.81 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1275526814 19p13.11 19 18869370C> T null E K 116 116 missense 0.229 benign 0.05 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1275526814 19p13.11 19 18869370C> G null E Q 116 116 missense 0.067 benign 0.4 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1439162400 19p13.11 19 18869366G> A null P L 117 117 missense 0.384 benign 0.06 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs4808863 [ClinVar]: Heterotaxia pubmed:2034669 19p13.11 19 18869363G> A null A V 118 118 0.2338 missense 0.388 benign 0.22 tolerated 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000860222 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1402976664 19p13.11 19 18869360G> T null S * 119 119 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1402976664 19p13.11 19 18869360G> A null S L 119 119 missense 0.01 benign 0.32 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1409027910 19p13.11 19 18869358C> T null A T 120 120 missense 0.015 benign 0.48 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs778442978 19p13.11 19 18869355C> G null A P 121 121 missense 0.511 possibly damaging 0.14 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs778442978 19p13.11 19 18869355C> A null A S 121 121 missense 0.003 benign 0.22 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs778442978 19p13.11 19 18869355C> T null A T 121 121 missense 0.1 benign 0.38 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1476780696 19p13.11 19 18869354G> A null A V 121 121 missense 0.247 benign 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs754449715 19p13.11 19 18869352C> T null G R 122 122 missense 0.806 possibly damaging 0.02 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs754449715 19p13.11 19 18869352C> G null G R 122 122 missense 0.806 possibly damaging 0.02 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs753537451 19p13.11 19 18869351C> A null G V 122 122 missense 0.508 possibly damaging 0.02 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs766003135 19p13.11 19 18869349G> T null H N 123 123 missense 0.003 benign 0.43 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs766003135 19p13.11 19 18869349G> A null H Y 123 123 missense 0.153 benign 0.46 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 dbSNP,gnomAD rs1057524707 19p13.11 19 18869345C> A null C F 124 124 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1057524707 19p13.11 19 18869345C> T null C Y 124 124 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1220982460 19p13.11 19 18869342G> T null P H 125 125 missense 0.972 probably damaging 0.02 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1279373441 19p13.11 19 18869343G> A null P S 125 125 missense 0.823 possibly damaging 0.27 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs767371085 19p13.11 19 18869340C> A null E * 126 126 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1303291971 19p13.11 19 18869338C> A null E D 126 126 missense 0.928 probably damaging 0.03 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs767371085 19p13.11 19 18869340C> T null E K 126 126 missense 0.752 possibly damaging 0.28 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs900625437 19p13.11 19 18869336C> T null W * 127 127 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs761762230 19p13.11 19 18869334T> G null T P 128 128 missense 0.024 benign 0.24 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1329759247 19p13.11 19 18869333G> C null T R 128 128 missense 0.885 possibly damaging 0.94 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1238991458 19p13.11 19 18869331C> G null V L 129 129 missense 0.026 benign 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs181918871 [ClinVar]: Heterotaxia 19p13.11 19 18869328C> T null V I 130 130 0.004593 missense 0.003 benign 0.3 tolerated 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000529166 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1164112656 19p13.11 19 18869318A> T null L Q 133 133 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1064793136 19p13.11 19 18869315G> A null S L 134 134 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,dbSNP rs1064793136 19p13.11 19 18869315G> C null S W 134 134 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1335835855 19p13.11 19 18869313C> T null A T 135 135 missense 0.006 benign 0.07 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,dbSNP,gnomAD rs944730356 [ClinVar]: Heterotaxia 19p13.11 19 18869312G> A null A V 135 135 missense 0.007 benign 0.54 tolerated 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000464468 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs912090524 19p13.11 19 18869309A> G null V A 136 136 missense 0.673 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs895247220 19p13.11 19 18869305T> G null E D 137 137 missense 0.294 benign 0.06 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs765449212 19p13.11 19 18869304G> T null P T 138 138 missense 0.866 possibly damaging 0.09 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1378195581 19p13.11 19 18869300G> A null A V 139 139 missense 0.003 benign 0.4 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs868061973 19p13.11 19 18869295G> A null R C 141 141 missense 0.871 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1473026614 19p13.11 19 18869294C> T null R H 141 141 missense 0.834 possibly damaging 0.23 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs929436392 19p13.11 19 18869292G> A null P S 142 142 missense 0.006 benign 0.18 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1212578292 19p13.11 19 18869287G> C null S R 143 143 missense 0.387 benign 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs771276786 19p13.11 19 18869285C> G null R P 144 144 missense 0.112 benign 0.17 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs771276786 19p13.11 19 18869285C> T null R Q 144 144 missense 0.001 benign 0.29 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs777054909 19p13.11 19 18869286G> A null R W 144 144 missense 0.464 possibly damaging 0.14 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1279675594 19p13.11 19 18869283C> A null A S 145 145 missense 0.565 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs747345121 19p13.11 19 18869279C> T null R H 146 146 missense 0.984 probably damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs747345121 19p13.11 19 18869279C> A null R L 146 146 missense 0.967 probably damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs747345121 19p13.11 19 18869279C> G null R P 146 146 missense 0.978 probably damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,gnomAD rs555453880 19p13.11 19 18869261G> T null A E 152 152 3.99E-4 missense 0.552 possibly damaging 0.66 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,gnomAD rs555453880 19p13.11 19 18869261G> C null A G 152 152 3.99E-4 missense 0.716 possibly damaging 0.46 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1305548087 19p13.11 19 18869258G> C null A G 153 153 missense 0.177 benign 0.39 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs973565739 19p13.11 19 18869252G> A null A V 155 155 missense 0.015 benign 0.06 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs773574790 19p13.11 19 18869249G> C null A G 156 156 missense 0.027 benign 0.35 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1375718300 19p13.11 19 18869246G> C null A G 157 157 missense 0.011 benign 0.41 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1421396867 19p13.11 19 18869240G> C null P R 159 159 missense 0.178 benign 0.52 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1388538763 19p13.11 19 18869241G> A null P S 159 159 missense 0.043 benign 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1277943861 19p13.11 19 18869238C> T null E K 160 160 missense 0.038 benign 0.75 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs121434424 [ClinVar]: Heterotaxia, [Ensembl]: Tetralogy of fallot (tof), [ClinVar]: Tetralogy of Fallot pubmed:17924340 pubmed:17924340 19p13.11 19 18869231C> T null G D 162 162 0.001597 missense 0.457 possibly damaging 0.19 tolerated 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV001078800 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs121434424 [ClinVar]: Heterotaxia, [Ensembl]: Tetralogy of fallot (tof), [ClinVar]: Tetralogy of Fallot pubmed:17924340 pubmed:17924340 19p13.11 19 18869231C> T null G D 162 162 0.001597 missense 0.457 possibly damaging 0.19 tolerated 0 Tetralogy of Fallot (TOF) Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. MIM:187500 ClinVar:RCV000007141 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs121434424 [ClinVar]: Heterotaxia, [Ensembl]: Tetralogy of fallot (tof), [ClinVar]: Tetralogy of Fallot pubmed:17924340 pubmed:17924340 19p13.11 19 18869231C> T null G D 162 162 0.001597 missense 0.457 possibly damaging 0.19 tolerated 0 Tetralogy of Fallot (TOF) A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. MIM:187500 pubmed:17924340 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1447624554 19p13.11 19 18869232C> T null G S 162 162 missense 0.022 benign 0.27 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ExAC,TOPMed,gnomAD rs121434424 [Ensembl]: Tetralogy of fallot (tof) 19p13.11 19 18869231C> A null G V 162 162 0.001597 missense 0.065 benign 0.21 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1416772401 19p13.11 19 18869224C> G null E D 164 164 missense 0.341 benign 0.02 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1280861632 19p13.11 19 18869209T> G null Q H 169 169 missense 0.304 benign 0.13 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1236202209 19p13.11 19 18869199C> T null G S 173 173 missense 0.084 benign 0.76 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs978050328 19p13.11 19 18869193C> A null G C 175 175 missense 0.305 benign 0.09 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1227644911 19p13.11 19 18869185G> T null D E 177 177 missense 0.0 benign 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1324308734 19p13.11 19 18869181C> T null G R 179 179 missense 0.012 benign 0.99 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1327700282 19p13.11 19 18869178G> A null P S 180 180 missense 0.194 benign 0.11 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1344026515 19p13.11 19 18869160A> C null L V 186 186 missense 0.0 benign 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1194443998 19p13.11 19 18869144C> G null G A 191 191 missense 0.213 benign 0.61 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1194443998 19p13.11 19 18869144C> A null G V 191 191 missense 0.568 possibly damaging 0.54 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1022132445 19p13.11 19 18869141G> A null P L 192 192 missense 0.0 benign 0.32 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1259474229 19p13.11 19 18869139G> A null P S 193 193 missense 0.025 benign 0.88 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1322632787 19p13.11 19 18869133G> A null R C 195 195 missense 0.631 possibly damaging 0.17 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs900553253 19p13.11 19 18869129G> C null A G 196 196 missense 0.149 benign 0.34 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs868026629 19p13.11 19 18869120A> G null L P 199 199 missense 0.006 benign 0.14 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,TOPMed,dbSNP rs573559104 [ClinVar]: Heterotaxia 19p13.11 19 18869117C> T null G D 200 200 2.0E-4 missense 0.014 benign 0.35 tolerated 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000458525 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1401282711 19p13.11 19 18869115C> A null A S 201 201 missense 0.0 benign 0.34 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1401282711 19p13.11 19 18869115C> T null A T 201 201 missense 0.0 benign 0.29 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1359321518 19p13.11 19 18869108C> T null W * 203 203 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1438878646 19p13.11 19 18869097C> A null A S 207 207 missense 0.074 benign 0.42 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1438878646 19p13.11 19 18869097C> T null A T 207 207 missense 0.295 benign 0.39 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1009289636 19p13.11 19 18869090C> T null W * 209 209 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1382522321 19p13.11 19 18869085G> A null R C 211 211 missense 0.0 benign 0.07 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs890473382 19p13.11 19 18869082T> C null S G 212 212 missense 0.087 benign 0.28 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1048221173 19p13.11 19 18869079G> A null L F 213 213 missense 0.036 benign 0.03 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1273796772 19p13.11 19 18869075C> T null R H 214 214 missense 0.559 possibly damaging 0.44 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1333497341 19p13.11 19 18869070C> G null A P 216 216 missense 0.138 benign 0.1 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs899464952 19p13.11 19 18869063G> T null A E 218 218 missense 0.001 benign 0.68 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1437111227 19p13.11 19 18869060A> G null L P 219 219 missense 0.911 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1037827220 19p13.11 19 18869058G> A null R C 220 220 missense 0.362 benign 0.06 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1425997323 19p13.11 19 18869057C> G null R P 220 220 missense 0.108 benign 0.25 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,dbSNP,gnomAD rs1037827220 [ClinVar]: Heterotaxia 19p13.11 19 18869058G> T null R S 220 220 missense 0.003 benign 0.81 tolerated 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000546327 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1374868661 19p13.11 19 18869055G> C null P A 221 221 missense 0.052 benign 0.16 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs948898162 19p13.11 19 18869051C> T null R Q 222 222 missense 0.003 benign 0.61 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1345947679 19p13.11 19 18869048G> C null A G 223 223 missense 0.003 benign 0.49 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1161508110 19p13.11 19 18869049C> A null A S 223 223 missense 0.056 benign 0.78 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,dbSNP,gnomAD rs121434422 [ClinVar]: Heterotaxia, [ClinVar]: Transposition of the great arteries, dextro-looped 3, [ClinVar]: Bilateral right-sidedness sequence pubmed:14648004,pubmed:17924340,pubmed:20413652,pubmed:28991257 19p13.11 19 18869035G> T null C * 227 227 stop gained 0 Bilateral right-sidedness sequence (RAI) MIM:208530 ClinVar:RCV000055615 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,dbSNP,gnomAD rs121434422 [ClinVar]: Heterotaxia, [ClinVar]: Transposition of the great arteries, dextro-looped 3, [ClinVar]: Bilateral right-sidedness sequence pubmed:14648004,pubmed:17924340,pubmed:20413652,pubmed:28991257 19p13.11 19 18869035G> T null C * 227 227 stop gained 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000197225 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,dbSNP,gnomAD rs121434422 [ClinVar]: Heterotaxia, [ClinVar]: Transposition of the great arteries, dextro-looped 3, [ClinVar]: Bilateral right-sidedness sequence pubmed:14648004,pubmed:17924340,pubmed:20413652,pubmed:28991257 19p13.11 19 18869035G> T null C * 227 227 stop gained 0 Transposition of the great arteries, dextro-looped 3 (CHTD6) MIM:613854 ClinVar:RCV000007139 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs121434422 19p13.11 19 18869035G> C null C W 227 227 missense 0.699 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1416440204 19p13.11 19 18869034C> T null A T 228 228 missense 0.044 benign 0.27 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1258108118 19p13.11 19 18869022C> A null E * 232 232 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1258108118 19p13.11 19 18869022C> G null E Q 232 232 missense 0.292 benign 0.21 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1258652147 19p13.11 19 18868995C> G null D H 241 241 missense 0.238 benign 0.05 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1481966920 19p13.11 19 18868986G> C null L V 244 244 missense 0.736 possibly damaging 0.29 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs1363443064 19p13.11 19 18868983A> G null C R 245 245 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs1568289844 19p13.11 19 18868982C> T null C Y 245 245 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1184350399 19p13.11 19 18868976G> A null P L 247 247 missense 0.711 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1157162412 19p13.11 19 18868970G> C null A G 249 249 missense 0.1 benign 0.2 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1436311174 19p13.11 19 18868954G> T null D E 254 254 missense 0.0 benign 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs927642111 19p13.11 19 18868953C> T null A T 255 255 missense 0.0 benign 0.28 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs978187037 19p13.11 19 18868950C> A null E * 256 256 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,TOPMed,gnomAD rs533711419 19p13.11 19 18868949T> C null E G 256 256 9.98E-4 missense 0.197 benign 0.23 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs978187037 19p13.11 19 18868950C> T null E K 256 256 missense 0.197 benign 0.48 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1171734871 19p13.11 19 18868946G> T null P H 257 257 missense 0.012 benign 0.04 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1373416886 19p13.11 19 18868947G> A null P S 257 257 missense 0.02 benign 0.07 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs754540207 19p13.11 19 18868937C> A null G V 260 260 missense 0.309 benign 0.16 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1280087615 19p13.11 19 18868932C> G null G R 262 262 missense 0.298 benign 0.05 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl,dbSNP rs1555702266 [ClinVar]: Heterotaxia 19p13.11 19 18868928G> A null P L 263 263 missense 0.005 benign 0.12 tolerated 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000558869 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1022227174 19p13.11 19 18868926C> T null G R 264 264 missense 0.464 possibly damaging 0.14 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ExAC,TOPMed,gnomAD rs571126746 19p13.11 19 18868922C> T null G D 265 265 2.0E-4 missense 0.61 possibly damaging 0.58 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs755707666 19p13.11 19 18868920C> T null A T 266 266 missense 0.006 benign 0.51 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 dbSNP,gnomAD rs121434423 [ClinVar]: Double outlet right ventricle, [UniProt]: double-outlet right ventricle pubmed:17924340 pubmed:17924340 19p13.11 19 18868916C> T null C Y 267 267 missense 0.998 probably damaging 0.0 deleterious 0 Conotruncal heart malformations (CTHM) A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. MIM:217095 pubmed:17924340 A0A024R7N8 CERS1 Ceramide synthase 1 dbSNP,gnomAD rs121434423 [ClinVar]: Double outlet right ventricle, [UniProt]: double-outlet right ventricle pubmed:17924340 pubmed:17924340 19p13.11 19 18868916C> T null C Y 267 267 missense 0.998 probably damaging 0.0 deleterious 0 Double outlet right ventricle (DORV) ClinVar:RCV000007140 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1175580019 19p13.11 19 18868914G> A null R C 268 268 missense 0.958 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1427480444 19p13.11 19 18868911C> A null A S 269 269 missense 0.274 benign 0.08 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1219700063 19p13.11 19 18868907C> A null R L 270 270 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1219700063 19p13.11 19 18868907C> T null R Q 270 270 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1294245027 19p13.11 19 18868908G> A null R W 270 270 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1173969061 19p13.11 19 18868905G> A null R W 271 271 missense 0.992 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1439882613 19p13.11 19 18868901A> C null L R 272 272 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1349040611 19p13.11 19 18868896C> T null V M 274 274 missense 0.96 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1463734892 19p13.11 19 18868887G> A null R C 277 277 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1355088234 19p13.11 19 18868886C> T null R H 277 277 missense 0.944 probably damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs767303516 19p13.11 19 18868882C> G null E D 278 278 missense 0.027 benign 0.79 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1371359675 19p13.11 19 18868884C> T null E K 278 278 missense 0.767 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1371359675 19p13.11 19 18868884C> G null E Q 278 278 missense 0.872 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1427840404 19p13.11 19 18868877C> G null G A 280 280 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1468313178 19p13.11 19 18868872G> A null H Y 282 282 missense 0.764 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1239173649 19p13.11 19 18868868C> T null R H 283 283 missense 0.712 possibly damaging 0.2 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1346134061 19p13.11 19 18868864C> G null W C 284 284 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1479465684 19p13.11 19 18868866A> G null W R 284 284 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1250455537 19p13.11 19 18868863C> T null V I 285 285 missense 0.315 benign 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs756972470 19p13.11 19 18868856G> A null A V 287 287 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs867919965 19p13.11 19 18868848C> A null G C 290 290 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs867919965 19p13.11 19 18868848C> T null G S 290 290 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1301159117 19p13.11 19 18868845A> T null F I 291 291 missense 0.978 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1377289578 19p13.11 19 18868841A> G null L P 292 292 missense 0.985 probably damaging 0.04 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1393322295 19p13.11 19 18868839C> T null A T 293 293 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1394561582 19p13.11 19 18868838G> A null A V 293 293 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl,dbSNP rs1555702233 [ClinVar]: Heterotaxia 19p13.11 19 18868833A> T null Y N 295 295 missense 0.991 probably damaging 0.0 deleterious 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000649013 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1466604623 19p13.11 19 18868827G> A null Q * 297 297 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1377423780 19p13.11 19 18868824C> G null G R 298 298 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1377423780 19p13.11 19 18868824C> T null G S 298 298 missense 0.945 probably damaging 0.03 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1208767118 19p13.11 19 18868805A> G null V A 304 304 missense 0.0 benign 0.77 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1409301380 19p13.11 19 18868806C> G null V L 304 304 missense 0.0 benign 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1417757274 19p13.11 19 18868803C> T null A T 305 305 missense 0.013 benign 0.72 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs764119124 19p13.11 19 18868796G> A null S L 307 307 missense 0.141 benign 0.28 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1334953984 19p13.11 19 18868794C> T null G R 308 308 missense 0.331 benign 0.04 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1339234939 19p13.11 19 18868790G> A null S F 309 309 missense 0.488 possibly damaging 0.02 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,dbSNP,gnomAD rs864622513 [ClinVar]: Heterotaxia, [ClinVar]: Epilepsy, progressive myoclonic 8 pubmed:17924340 19p13.11 19 18868791A> G null S P 309 309 missense 0.0 benign 0.76 tolerated 0 Epilepsy, progressive myoclonic 8 (EPM8) MIM:616230 ClinVar:RCV000543577 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,dbSNP,gnomAD rs864622513 [ClinVar]: Heterotaxia, [ClinVar]: Epilepsy, progressive myoclonic 8 pubmed:17924340 19p13.11 19 18868791A> G null S P 309 309 missense 0.0 benign 0.76 tolerated 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000205585 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,dbSNP,gnomAD rs864622513 [ClinVar]: Heterotaxia, [ClinVar]: Epilepsy, progressive myoclonic 8 pubmed:17924340 19p13.11 19 18868791A> G null S P 309 309 missense 0.0 benign 0.76 tolerated 0 Tetralogy of Fallot (TOF) A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. MIM:187500 pubmed:17924340 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs899391416 19p13.11 19 18868788C> G null G R 310 310 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs899391416 19p13.11 19 18868788C> T null G R 310 310 missense 0.989 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs899391416 19p13.11 19 18868788C> A null G W 310 310 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1354366394 19p13.11 19 18868784C> T null G E 311 311 missense 0.486 possibly damaging 0.36 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1210012759 19p13.11 19 18868785C> T null G R 311 311 missense 0.663 possibly damaging 0.04 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs1568289554 19p13.11 19 18868782G> C null P A 312 312 missense 0.031 benign 0.3 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs759759832 19p13.11 19 18868781G> A null P L 312 312 missense 0.048 benign 0.21 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs759759832 19p13.11 19 18868781G> C null P R 312 312 missense 0.184 benign 0.09 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1306555468 19p13.11 19 18868778G> A null P L 313 313 missense 0.993 probably damaging 0.02 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1396826999 19p13.11 19 18868776C> T null A T 314 314 missense 0.463 possibly damaging 0.09 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1037920678 19p13.11 19 18868769T> C null N S 316 316 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,dbSNP,gnomAD rs1064793138 pubmed:17924340 19p13.11 19 18868764C> T null A T 318 318 missense 0.999 probably damaging 0.0 deleterious 0 Congenital heart defects, multiple types, 6 (CHTD6) An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle. MIM:613854 pubmed:17924340,pubmed:28991257 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs753906369 19p13.11 19 18868757A> G null L P 320 320 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1361710548 19p13.11 19 18868751G> A null A V 322 322 missense 0.365 benign 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1452075582 19p13.11 19 18868745A> G null M T 324 324 missense 0.826 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1461466304 19p13.11 19 18868741G> C null H Q 325 325 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs894657723 19p13.11 19 18868740C> A null A S 326 326 missense 0.009 benign 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs894657723 19p13.11 19 18868740C> T null A T 326 326 missense 0.198 benign 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1391745705 19p13.11 19 18868737C> G null A P 327 327 missense 0.918 probably damaging 0.03 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1187747006 19p13.11 19 18868733G> T null A D 328 328 missense 0.632 possibly damaging 0.55 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,dbSNP,gnomAD rs760908706 [ClinVar]: Heterotaxia 19p13.11 19 18868731G> A null P S 329 329 missense 1.0 probably damaging 0.01 deleterious 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000547119 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1057491518 19p13.11 19 18868722C> T null A T 332 332 missense 0.01 benign 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ESP,TOPMed,gnomAD rs376692379 19p13.11 19 18868717G> T null D E 333 333 missense 0.214 benign 0.61 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1429110767 19p13.11 19 18868719C> T null D N 333 333 missense 0.164 benign 0.65 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1349595855 19p13.11 19 18868712G> A null P L 335 335 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1245731033 19p13.11 19 18868709C> A null C F 336 336 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1245731033 19p13.11 19 18868709C> T null C Y 336 336 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1291719585 19p13.11 19 18868705G> T null C * 337 337 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1337263079 19p13.11 19 18868706C> T null C Y 337 337 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1353039336 cosmic curated [Cosmic]: large_intestine cosmic_study:376 19p13.11 19 18868704C> T null V M 338 338 missense 0.995 probably damaging 0.0 deleterious 1 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs865998453 19p13.11 19 18868701G> A null P S 339 339 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 1000Genomes,ExAC,TOPMed,gnomAD rs537524649 19p13.11 19 18868697G> C null A G 340 340 2.0E-4 missense 0.639 possibly damaging 0.14 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1320776392 19p13.11 19 18868698C> G null A P 340 340 missense 0.803 possibly damaging 0.05 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1320776392 19p13.11 19 18868698C> T null A T 340 340 missense 0.096 benign 0.2 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1446194780 19p13.11 19 18868694C> T null R H 341 341 missense 0.98 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs769083453 19p13.11 19 18868692G> T null L M 342 342 missense 0.865 possibly damaging 0.03 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,dbSNP,gnomAD rs779492558 [ClinVar]: Heterotaxia 19p13.11 19 18868686G> A null P S 344 344 missense 0.947 probably damaging 0.0 deleterious 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000816805 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1158982977 19p13.11 19 18868682A> G null I T 345 345 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1243346241 19p13.11 19 18868683T> C null I V 345 345 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1446379797 19p13.11 19 18868679G> A null S F 346 346 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1215300649 19p13.11 19 18868677C> T null V M 347 347 missense 0.382 benign 0.28 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs769364770 19p13.11 19 18868674G> A null L F 348 348 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1292056473 19p13.11 19 18868664T> C null D G 351 351 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1318628871 19p13.11 19 18868661T> C null N S 352 352 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1225830078 19p13.11 19 18868658C> T null S N 353 353 missense 0.017 benign 0.52 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs780686644 19p13.11 19 18868657G> T null S R 353 353 missense 0.652 possibly damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1254407319 19p13.11 19 18868655T> C null D G 354 354 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1048053843 19p13.11 19 18868656C> T null D N 354 354 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1337583682 19p13.11 19 18868652T> G null N T 355 355 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1392820474 19p13.11 19 18868649A> G null V A 356 356 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1056201063 19p13.11 19 18868650C> G null V L 356 356 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1056201063 19p13.11 19 18868650C> A null V L 356 356 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1056201063 19p13.11 19 18868650C> T null V M 356 356 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs762593109 19p13.11 19 18868646A> G null V A 357 357 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs762593109 19p13.11 19 18868646A> T null V E 357 357 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs1348853211 19p13.11 19 18868644G> T null L M 358 358 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs772895457 19p13.11 19 18868640C> A null R L 359 359 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs772895457 19p13.11 19 18868640C> G null R P 359 359 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed rs772895457 19p13.11 19 18868640C> T null R Q 359 359 missense 0.885 possibly damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 dbSNP,gnomAD rs1324719289 [ClinVar]: Heterotaxia 19p13.11 19 18868641G> A null R W 359 359 missense 0.999 probably damaging 0.0 deleterious 0 Heterotaxia Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. ClinVar:RCV000818089 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs751311265 19p13.11 19 18868638G> A null Q * 360 360 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 Ensembl rs868686446 19p13.11 19 18868636C> A null Q H 360 360 missense 0.0 benign 1.0 tolerated 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,TOPMed,gnomAD rs751311265 19p13.11 19 18868638G> T null Q K 360 360 missense 0.081 benign 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1165681939 19p13.11 19 18868632C> T null E K 362 362 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs754571030 19p13.11 19 18868629C> T null D N 363 363 missense 0.811 possibly damaging 0.03 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs374016704 [ClinVar]: Congenital heart defects, [ClinVar]: Transposition of the great arteries, dextro-looped 3, [ClinVar]: Epilepsy, progressive myoclonic 8 pubmed:28991257 pubmed:28991257 19p13.11 19 18868625A> G null M T 364 364 missense 0.998 probably damaging 0.0 deleterious 0 Congenital heart defects ClinVar:RCV000991185 A0A024R7N8 CERS1 Ceramide synthase 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs374016704 [ClinVar]: Congenital heart defects, [ClinVar]: Transposition of the great arteries, dextro-looped 3, [ClinVar]: Epilepsy, progressive myoclonic 8 pubmed:28991257 pubmed:28991257 19p13.11 19 18868625A> G null M T 364 364 missense 0.998 probably damaging 0.0 deleterious 0 Congenital heart defects, multiple types, 6 (CHTD6) An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle. MIM:613854 pubmed:17924340,pubmed:28991257 A0A024R7N8 CERS1 Ceramide synthase 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs374016704 [ClinVar]: Congenital heart defects, [ClinVar]: Transposition of the great arteries, dextro-looped 3, [ClinVar]: Epilepsy, progressive myoclonic 8 pubmed:28991257 pubmed:28991257 19p13.11 19 18868625A> G null M T 364 364 missense 0.998 probably damaging 0.0 deleterious 0 Epilepsy, progressive myoclonic 8 (EPM8) MIM:616230 ClinVar:RCV000685174 A0A024R7N8 CERS1 Ceramide synthase 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs374016704 [ClinVar]: Congenital heart defects, [ClinVar]: Transposition of the great arteries, dextro-looped 3, [ClinVar]: Epilepsy, progressive myoclonic 8 pubmed:28991257 pubmed:28991257 19p13.11 19 18868625A> G null M T 364 364 missense 0.998 probably damaging 0.0 deleterious 0 Transposition of the great arteries, dextro-looped 3 (CHTD6) MIM:613854 ClinVar:RCV000625716 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC rs777860096 19p13.11 19 18868626T> C null M V 364 364 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 gnomAD rs1466920594 19p13.11 19 18868617C> G null D H 367 367 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ESP,ExAC,TOPMed,gnomAD rs369804280 19p13.11 19 18868614C> A null E * 368 368 stop gained 0 A0A024R7N8 CERS1 Ceramide synthase 1 ESP,ExAC,TOPMed,gnomAD rs369804280 19p13.11 19 18868614C> T null E K 368 368 missense 0.421 benign 0.02 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 ExAC,gnomAD rs766602616 19p13.11 19 18868607C> G null G A 370 370 missense 1.0 probably damaging 0.01 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1304798916 19p13.11 19 18868602G> A null R C 372 372 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7N8 CERS1 Ceramide synthase 1 TOPMed,gnomAD rs1304798916 19p13.11 19 18868602G> C null R G 372 372 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1237895296 19p13.11 19 19193952G> T null E D 2 2 missense 0.979 probably damaging 0.06 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1019901096 19p13.11 19 19193951A> G null E G 2 2 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1488966736 19p13.11 19 19193957C> T null T I 4 4 missense 0.994 probably damaging 0.08 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs772043527 19p13.11 19 19193956A> C null T P 4 4 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs746728542 19p13.11 19 19193962C> G null P A 6 6 missense 0.079 benign 0.35 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1326107852 19p13.11 19 19193963C> T null P L 6 6 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs746728542 19p13.11 19 19193962C> A null P T 6 6 missense 0.116 benign 0.78 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs776148883 19p13.11 19 19193965G> A null A T 7 7 missense 0.107 benign 0.14 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1183893593 19p13.11 19 19193966C> T null A V 7 7 missense 0.107 benign 0.22 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs770297156 19p13.11 19 19193968G> A null E K 8 8 missense 0.107 benign 0.08 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs1009789125 19p13.11 19 19193977A> T null I F 11 11 missense 0.014 benign 0.12 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1157183741 19p13.11 19 19193982G> C null Q H 12 12 missense 0.115 benign 0.12 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs373342097 19p13.11 19 19193983A> T null T S 13 13 missense 0.003 benign 0.31 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1312378543 19p13.11 19 19193992A> G null T A 16 16 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs764499202 19p13.11 19 19193993C> T null T I 16 16 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs764499202 19p13.11 19 19193993C> G null T S 16 16 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1312378543 19p13.11 19 19193992A> T null T S 16 16 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,dbSNP rs1156936548 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19193995C> G null P A 17 17 missense 0.012 benign 0.31 tolerated - low confidence 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000809067 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1425835390 19p13.11 19 19194001T> G null S A 19 19 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs761951873 19p13.11 19 19194008T> C null L P 21 21 missense 0.001 benign 0.12 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1379607348 19p13.11 19 19194007C> G null L V 21 21 missense 0.049 benign 0.09 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1355433000 19p13.11 19 19194011G> A null G E 22 22 missense 0.003 benign 0.46 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs968833538 19p13.11 19 19194010G> C null G R 22 22 missense 0.003 benign 0.55 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs968833538 19p13.11 19 19194010G> A null G R 22 22 missense 0.003 benign 0.55 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs756191972 19p13.11 19 19194029G> A null G E 28 28 missense 0.049 benign 0.22 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs559367724 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19194028G> A null G R 28 28 2.0E-4 missense 0.001 benign 0.89 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs778890706 19p13.11 19 19194035A> G null E G 30 30 missense 0.621 possibly damaging 0.08 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs924654241 19p13.11 19 19194034G> C null E Q 30 30 missense 0.691 possibly damaging 0.1 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1212837083 19p13.11 19 19194037G> A null A T 31 31 missense 0.003 benign 0.29 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs376225883 19p13.11 19 19194038C> T null A V 31 31 missense 0.079 benign 0.2 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114064359 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19194041C> T null A V 32 32 0.001597 missense 0.003 benign 0.5 tolerated - low confidence 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000647950 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1177218011 19p13.11 19 19194043G> T null D Y 33 33 missense 0.944 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1240212432 19p13.11 19 19194047G> A null G D 34 34 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1240212432 19p13.11 19 19194047G> T null G V 34 34 missense 0.3 benign 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs751129186 19p13.11 19 19194050C> G null S * 35 35 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1290480803 19p13.11 19 19194058G> A null V M 38 38 missense 0.931 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs746814298 19p13.11 19 19194061G> A null V I 39 39 missense 0.011 benign 0.17 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs770661421 19p13.11 19 19194075T> A null F L 43 43 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1340297024 19p13.11 19 19194074T> C null F S 43 43 missense 0.143 benign 0.04 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1359837593 19p13.11 19 19194077C> T null P L 44 44 missense 0.559 possibly damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs780741433 19p13.11 19 19194076C> T null P S 44 44 missense 0.434 benign 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs769234114 19p13.11 19 19194079T> C null C R 45 45 missense 0.458 possibly damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34282046 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19194090G> C null E D 48 48 0.04393 missense 0.0 benign 0.32 tolerated 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000296111 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs953884677 19p13.11 19 19194089A> G null E G 48 48 missense 0.049 benign 0.04 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs369403645 19p13.11 19 19194094G> A null V M 50 50 missense 0.003 benign 0.2 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1364864540 19p13.11 19 19194101C> T null P L 52 52 missense 0.018 benign 0.07 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs912409307 19p13.11 19 19194107C> T null P L 54 54 missense 0.0 benign 0.66 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1307452669 19p13.11 19 19194115A> G null S G 57 57 missense 0.0 benign 0.57 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1431730261 19p13.11 19 19194119T> C null V A 58 58 missense 0.0 benign 1.0 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,TOPMed rs373095352 19p13.11 19 19194118G> A null V I 58 58 missense 0.007 benign 0.43 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1197099934 19p13.11 19 19194121T> G null S A 59 59 missense 0.003 benign 0.29 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs142461365 19p13.11 19 19194125C> T null S F 60 60 missense 0.568 possibly damaging 0.05 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,dbSNP,gnomAD rs150525759 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19194133G> A null G S 63 63 missense 0.758 possibly damaging 0.22 tolerated 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000687490 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1300551779 19p13.11 19 19196971T> C null S P 65 65 missense 0.001 benign 0.46 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1300551779 19p13.11 19 19196971T> A null S T 65 65 missense 0.171 benign 0.74 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs1568578546 19p13.11 19 19196972C> A null S Y 65 65 missense 0.139 benign 0.34 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1233012700 19p13.11 19 19196979G> T null K N 67 67 missense 0.396 benign 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs764092902 19p13.11 19 19196978A> G null K R 67 67 missense 0.396 benign 0.07 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1300437440 19p13.11 19 19196981A> G null H R 68 68 missense 0.596 possibly damaging 0.18 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs757059776 19p13.11 19 19196990C> T null T I 71 71 missense 0.997 probably damaging 0.15 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs767281603 19p13.11 19 19196993T> G null L R 72 72 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1231256421 19p13.11 19 19196999A> G null N S 74 74 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs755661612 19p13.11 19 19197002G> A null R Q 75 75 missense 0.895 possibly damaging 0.21 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs368808881 NCI-TCGA Cosmic [ClinVar]: Bare lymphocyte syndrome 2, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19197001C> T null R W 75 75 missense 0.992 probably damaging 0.01 deleterious 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000795958 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs779699696 19p13.11 19 19197007C> T null R * 77 77 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs375541634 19p13.11 19 19197008G> T null R L 77 77 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs375541634 [ClinVar]: Bare lymphocyte syndrome 2, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19197008G> A null R Q 77 77 missense 1.0 probably damaging 0.0 deleterious 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000809077 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1473689675 19p13.11 19 19197018G> T null E D 80 80 missense 0.942 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,dbSNP,gnomAD rs779382779 cosmic curated [ClinVar]: Bare lymphocyte syndrome 2, [Cosmic]: lung pubmed:22941188,cosmic_study:423 19p13.11 19 19197016G> A null E K 80 80 missense 0.943 probably damaging 0.06 tolerated 1 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000817083 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl rs866391864 19p13.11 19 19197025G> A null A T 83 83 missense 0.131 benign 0.31 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs748724203 19p13.11 19 19197031C> G null P A 85 85 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs545211228 19p13.11 19 19197032C> T null P L 85 85 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs545211228 19p13.11 19 19197032C> A null P Q 85 85 2.0E-4 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1361658343 19p13.11 19 19197034G> A null A T 86 86 missense 0.756 possibly damaging 0.11 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK dbSNP rs1568578747 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19197041_19197043de l null L H 88 89 - 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000692999 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs374843362 19p13.11 19 19197522T> G null C W 90 90 missense 0.451 possibly damaging 0.13 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145448880 19p13.11 19 19197532G> A null V I 94 94 3.99E-4 missense 0.003 benign 1.0 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl,dbSNP rs104894709 [ClinVar]: Bare lymphocyte syndrome, type II, complementation group B, [ClinVar]: Bare lymphocyte syndrome 2 pubmed:12618906 19p13.11 19 19197545A> T null D V 98 98 missense 1.0 probably damaging 0.0 deleterious 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000985115 A0A024R7P0 RFXANK DNA-binding protein RFXANK Ensembl,dbSNP rs104894709 [ClinVar]: Bare lymphocyte syndrome, type II, complementation group B, [ClinVar]: Bare lymphocyte syndrome 2 pubmed:12618906 19p13.11 19 19197545A> T null D V 98 98 missense 1.0 probably damaging 0.0 deleterious 0 Bare lymphocyte syndrome, type II, complementation group B Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). ClinVar:RCV000006979 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs769689430 19p13.11 19 19197547G> A null E K 99 99 missense 0.473 possibly damaging 0.06 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs775003911 19p13.11 19 19197550C> T null R C 100 100 missense 0.858 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs762597760 19p13.11 19 19197551G> A null R H 100 100 missense 0.038 benign 0.09 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs377750233 19p13.11 19 19197553G> A null G S 101 101 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1439415098 19p13.11 19 19197562C> A null P T 104 104 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC rs756530632 19p13.11 19 19197580G> A null A T 110 110 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1021022752 19p13.11 19 19197587G> A null G E 112 112 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1481704512 19p13.11 19 19197589G> A null E K 113 113 missense 0.925 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs754170563 19p13.11 19 19197597G> C null E D 115 115 missense 0.023 benign 0.32 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs906618330 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19197599C> T null T I 116 116 missense 0.661 possibly damaging 0.05 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1382983710 19p13.11 19 19197601G> A null V I 117 117 missense 0.766 possibly damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,dbSNP,gnomAD rs779039407 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19197604C> T null R C 118 118 missense 0.17 benign 0.0 deleterious 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000347711 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs779039407 19p13.11 19 19197604C> G null R G 118 118 missense 0.851 possibly damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs758522910 19p13.11 19 19197605G> A null R H 118 118 missense 0.969 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1206746915 19p13.11 19 19197609C> A null F L 119 119 missense 0.583 possibly damaging 0.44 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,dbSNP,gnomAD rs778357787 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19197620G> A null W * 123 123 stop gained 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000779255 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs775296271 19p13.11 19 19197621G> A null W * 123 123 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1301129319 19p13.11 19 19197619T> C null W R 123 123 missense 0.007 benign 0.7 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs771867382 19p13.11 19 19198108G> A null G D 124 124 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1483730599 19p13.11 19 19198115C> A null D E 126 126 missense 0.313 benign 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115220304 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19198113G> A null D N 126 126 0.002196 missense 0.07 benign 0.15 tolerated 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000647953 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs771437963 19p13.11 19 19198119C> T null H Y 128 128 missense 0.915 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK dbSNP rs753338285 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19198122_19198123de l null I null 129 129 frameshift 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000850361 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs777058246 19p13.11 19 19198122A> G null I V 129 129 missense 0.001 benign 0.58 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs765659642 19p13.11 19 19198131A> C null K Q 132 132 missense 0.66 possibly damaging 0.1 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1475656044 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19p13.11 19 19198137C> T null R * 134 134 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed rs763100974 19p13.11 19 19198138G> T null R L 134 134 missense 0.38 benign 0.1 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed rs763100974 19p13.11 19 19198138G> A null R Q 134 134 missense 0.955 probably damaging 0.17 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC rs764319239 19p13.11 19 19198141A> C null E A 135 135 missense 0.961 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC rs751594870 19p13.11 19 19198143A> C null S R 136 136 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK dbSNP rs368281475 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19198145C> A null S R 136 136 missense 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000985219 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,NCI-TCGA,TOPMed,gnomAD rs780019385 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19198146G> A null A T 137 137 missense 0.977 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,NCI-TCGA,gnomAD rs753776724 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.11 19 19198153C> T null S L 139 139 missense 0.792 possibly damaging 0.18 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs778781120 19p13.11 19 19198159C> T null A V 141 141 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs989833829 19p13.11 19 19198161A> G null S G 142 142 missense 0.132 benign 0.08 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1398711276 19p13.11 19 19198162G> C null S T 142 142 missense 0.888 possibly damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1327386243 19p13.11 19 19198167G> T null G C 144 144 missense 0.993 probably damaging 0.06 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1424876858 19p13.11 19 19198173T> C null Y H 146 146 missense 0.985 probably damaging 0.48 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs746506139 19p13.11 19 19198180A> G null D G 148 148 missense 0.968 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs886054309 19p13.11 19 19198182A> C null I L 149 149 missense 0.999 probably damaging 0.11 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1428063418 19p13.11 19 19198184T> G null I M 149 149 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK dbSNP,gnomAD rs886054309 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19198182A> G null I V 149 149 missense 0.996 probably damaging 0.2 tolerated 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000402039 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs777194266 19p13.11 19 19198189G> T null G V 151 151 missense 0.0 benign 0.29 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs151053440 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19198197C> G null L V 154 154 2.0E-4 missense 0.566 possibly damaging 0.01 deleterious 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000943941 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs372111384 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19198201A> C null E A 155 155 2.0E-4 missense 0.138 benign 0.15 tolerated 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000799276 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372111384 19p13.11 19 19198201A> T null E V 155 155 2.0E-4 missense 0.398 benign 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs115964828 19p13.11 19 19198203C> T null R C 156 156 0.002396 missense 0.005 benign 0.33 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs562901844 cosmic curated [Cosmic]: prostate pubmed:22722839,cosmic_study:391 19p13.11 19 19198204G> A null R H 156 156 2.0E-4 missense 0.005 benign 0.88 tolerated 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs115964828 19p13.11 19 19198203C> A null R S 156 156 0.002396 missense 0.165 benign 0.38 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs761939764 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 19p13.11 19 19198209G> A null V M 158 158 missense 0.996 probably damaging 0.04 deleterious 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1379140459 19p13.11 19 19198216T> C null I T 160 160 missense 0.972 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed rs140946419 19p13.11 19 19198219A> G null N S 161 161 missense 0.828 possibly damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK dbSNP rs1599784374 19p13.11 19 19198226T> A null Y * 163 163 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs754824751 19p13.11 19 19198224T> A null Y N 163 163 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs752740364 19p13.11 19 19198657A> C null N H 166 166 missense 0.918 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1398406438 19p13.11 19 19198663G> T null G W 168 168 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1393172112 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19198667C> T null T M 169 169 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,dbSNP,gnomAD rs751386365 [ClinVar]: Inherited Immunodeficiency Diseases, [UniProt]: loss of expression pubmed:10725724,pubmed:22649097 19p13.11 19 19198676T> C null L P 172 172 missense 0.997 probably damaging 0.0 deleterious 0 Bare lymphocyte syndrome 2 (BLS2) A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. MIM:209920 pubmed:10072068,pubmed:10725724,pubmed:22649097,pubmed:9806546 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,dbSNP,gnomAD rs751386365 [ClinVar]: Inherited Immunodeficiency Diseases, [UniProt]: loss of expression pubmed:10725724,pubmed:22649097 19p13.11 19 19198676T> C null L P 172 172 missense 0.997 probably damaging 0.0 deleterious 0 Inherited Immunodeficiency Diseases ClinVar:RCV001027618 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1281377020 19p13.11 19 19198679A> G null Y C 173 173 missense 0.995 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs745335142 19p13.11 19 19198681G> A null A T 174 174 missense 0.985 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs749859039 [ClinVar]: Bare lymphocyte syndrome 2, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.11 19 19198687C> T null R C 176 176 missense 0.996 probably damaging 0.07 tolerated 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000819452 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs769155207 19p13.11 19 19198688G> A null R H 176 176 missense 0.321 benign 0.47 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs749859039 19p13.11 19 19198687C> A null R S 176 176 missense 0.983 probably damaging 0.18 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs772154823 19p13.11 19 19198691G> C null G A 177 177 missense 0.986 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs772154823 19p13.11 19 19198691G> A null G E 177 177 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,dbSNP,gnomAD rs748578827 cosmic curated [ClinVar]: Bare lymphocyte syndrome 2, [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 19p13.11 19 19198690G> A null G R 177 177 missense 0.999 probably damaging 0.0 deleterious 1 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000808699 A0A024R7P0 RFXANK DNA-binding protein RFXANK dbSNP rs1599785560 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19198694A> T null N I 178 178 missense 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000802902 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs554811149 19p13.11 19 19198698C> G null H Q 179 179 3.99E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs554811149 19p13.11 19 19198698C> A null H Q 179 179 3.99E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1170452718 19p13.11 19 19198697A> G null H R 179 179 missense 0.966 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1480941310 19p13.11 19 19198696C> T null H Y 179 179 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs762928386 19p13.11 19 19198699G> A null V M 180 180 missense 0.277 benign 0.06 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ExAC,TOPMed,gnomAD rs201676379 19p13.11 19 19198704A> C null K N 181 181 2.0E-4 missense 0.966 probably damaging 0.02 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs751270105 19p13.11 19 19198708G> A null V I 183 183 missense 0.597 possibly damaging 0.04 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,dbSNP,gnomAD rs140748502 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19198715C> T null A V 185 185 missense 0.101 benign 0.83 tolerated 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000647946 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1277340509 19p13.11 19 19198723G> A null A T 188 188 missense 0.535 possibly damaging 0.38 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,NCI-TCGA,TOPMed,gnomAD rs747402973 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19p13.11 19 19199156C> T null R * 189 189 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs757517948 NCI-TCGA Cosmic [ClinVar]: Bare lymphocyte syndrome 2, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19199157G> A null R Q 189 189 missense 0.369 benign 0.13 tolerated 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000306670 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs781601864 19p13.11 19 19199159G> T null G C 190 190 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs769970316 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 19p13.11 19 19199162G> A null A T 191 191 missense 0.853 possibly damaging 0.0 deleterious 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1481038979 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p13.11 19 19199177G> A null E K 196 196 missense 0.918 probably damaging 0.03 deleterious 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1479307125 cosmic curated [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:21720365,pubmed:23525077,cosmic_study:331,cosmic_study:464 19p13.11 19 19199183G> A null D N 198 198 missense 0.646 possibly damaging 0.04 deleterious 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs760492401 19p13.11 19 19199190G> C null G A 200 200 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs376955692 19p13.11 19 19199193A> G null Y C 201 201 missense 0.938 probably damaging 0.06 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs758964462 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.11 19 19199196C> T null T I 202 202 missense 0.124 benign 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs758964462 19p13.11 19 19199196C> A null T N 202 202 missense 0.053 benign 0.3 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs377347305 19p13.11 19 19199199C> T null P L 203 203 missense 0.856 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs764732273 19p13.11 19 19199202T> C null M T 204 204 missense 0.498 possibly damaging 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,NCI-TCGA,TOPMed,gnomAD rs757742036 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: lung pubmed:23033341,cosmic_study:456 19p13.11 19 19199213G> A null V M 208 208 missense 0.144 benign 0.08 tolerated 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs746164654 19p13.11 19 19199225T> C null Y H 212 212 missense 0.007 benign 1.0 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143964319 19p13.11 19 19199228C> G null R G 213 213 9.98E-4 missense 0.303 benign 0.01 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs780122862 19p13.11 19 19199229G> C null R P 213 213 missense 0.033 benign 0.05 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs780122862 19p13.11 19 19199229G> A null R Q 213 213 missense 0.152 benign 0.08 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs143964319 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19199228C> T null R W 213 213 9.98E-4 missense 0.945 probably damaging 0.0 deleterious 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000647945 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1269324522 19p13.11 19 19199231A> G null K E 214 214 missense 0.281 benign 0.13 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs769532234 19p13.11 19 19201657G> T null V L 218 218 missense 0.01 benign 0.06 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs769532234 19p13.11 19 19201657G> A null V M 218 218 missense 0.756 possibly damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,dbSNP,gnomAD rs200043123 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19201662C> G null I M 219 219 missense 0.034 benign 0.21 tolerated 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000647944 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed rs1456448826 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 19p13.11 19 19201663G> A null E K 220 220 missense 0.964 probably damaging 0.0 deleterious 1 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1015461724 19p13.11 19 19201669C> G null H D 222 222 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK TOPMed,gnomAD rs1015461724 19p13.11 19 19201669C> T null H Y 222 222 missense 1.0 probably damaging 0.21 tolerated 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs377064458 19p13.11 19 19201681C> G null L V 226 226 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1802498 19p13.11 19 19201687C> T null Q * 228 228 0.03714 stop gained 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1802498 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19201687C> G null Q E 228 228 0.03714 missense 0.007 benign 0.06 tolerated 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000525677 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs761097826 19p13.11 19 19201690A> G null S G 229 229 missense 0.005 benign 0.1 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs765477759 19p13.11 19 19201703C> T null P L 233 233 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,dbSNP,gnomAD rs759707164 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19201702C> T null P S 233 233 missense 0.998 probably damaging 0.02 deleterious - low confidence 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000807418 A0A024R7P0 RFXANK DNA-binding protein RFXANK gnomAD rs1294355115 19p13.11 19 19201705G> A null A T 234 234 missense 0.0 benign 0.61 tolerated - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs199868077 19p13.11 19 19201711C> G null P A 236 236 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,dbSNP,gnomAD rs199868077 [ClinVar]: Bare lymphocyte syndrome 2 19p13.11 19 19201711C> T null P S 236 236 missense 0.133 benign 0.0 deleterious - low confidence 0 Bare lymphocyte syndrome 2 MIM:209920 ClinVar:RCV000896156 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,TOPMed,gnomAD rs199868077 19p13.11 19 19201711C> A null P T 236 236 missense 0.133 benign 0.0 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ExAC,gnomAD rs756078268 19p13.11 19 19201715A> C null E A 237 237 missense 0.969 probably damaging 0.01 deleterious - low confidence 0 A0A024R7P0 RFXANK DNA-binding protein RFXANK ESP,ExAC,TOPMed,gnomAD rs150729244 19p13.11 19 19201714G> A null E K 237 237 missense 0.969 probably damaging 0.09 tolerated - low confidence 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs200374147 8q12.3 8 63186168T> C null S P 2 2 missense 0.969 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs139728132 8q12.3 8 63186172A> G null D G 3 3 missense 0.958 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1472505316 8q12.3 8 63186180A> G null M V 6 6 missense 0.0 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs755677765 8q12.3 8 63186187G> A null S N 8 8 missense 0.932 probably damaging 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1380111417 8q12.3 8 63186192T> C null Y H 10 10 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs777802604 8q12.3 8 63186195G> A null A T 11 11 missense 0.515 possibly damaging 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs749247122 8q12.3 8 63186204A> G null I V 14 14 missense 0.011 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC rs757043254 8q12.3 8 63186222C> G null L V 20 20 missense 0.952 probably damaging 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1310588388 8q12.3 8 63186234G> A null A T 24 24 missense 0.515 possibly damaging 0.41 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1340523612 8q12.3 8 63186235C> T null A V 24 24 missense 0.448 possibly damaging 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1352320447 8q12.3 8 63186238G> T null W L 25 25 missense 0.245 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs776951090 8q12.3 8 63186253A> C null D A 30 30 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1307590918 8q12.3 8 63186252G> C null D H 30 30 missense 0.993 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs748138153 8q12.3 8 63186261A> G null M V 33 33 missense 0.678 possibly damaging 0.22 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1253383386 8q12.3 8 63186276A> G null T A 38 38 missense 0.171 benign 0.27 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1231721269 8q12.3 8 63186292G> A null S N 43 43 missense 0.105 benign 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1287534319 8q12.3 8 63186310A> G null Y C 49 49 missense 0.0 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1014099388 8q12.3 8 63186312A> C null I L 50 50 missense 0.0 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs769939625 8q12.3 8 63186315C> G null P A 51 51 missense 0.986 probably damaging 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1482918755 8q12.3 8 63186316C> T null P L 51 51 missense 0.994 probably damaging 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs771521146 8q12.3 8 63186336C> G null P A 58 58 missense 0.005 benign 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1037783524 8q12.3 8 63186337C> T null P L 58 58 missense 0.272 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs771521146 8q12.3 8 63186336C> A null P T 58 58 missense 0.185 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs763456577 8q12.3 8 63186342G> A null A T 60 60 missense 0.0 benign 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1211912168 8q12.3 8 63186352A> G null N S 63 63 missense 0.026 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1304568727 8q12.3 8 63186360C> T null P S 66 66 missense 0.5 possibly damaging 0.25 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1174148188 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63186366C> T null L F 68 68 missense 0.27 benign 0.24 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1455662146 8q12.3 8 63186378G> A null G R 72 72 missense 0.026 benign 0.58 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1360236329 8q12.3 8 63186394C> T null P L 77 77 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs752412447 8q12.3 8 63186396G> A null G S 78 78 missense 0.01 benign 0.6 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1199160329 8q12.3 8 63186399A> C null N H 79 79 missense 0.36 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs267601964 8q12.3 8 63186410C> A null F L 82 82 missense 0.066 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1341759262 8q12.3 8 63186414A> G null T A 84 84 missense 0.014 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs763699606 8q12.3 8 63186426A> G null S G 88 88 missense 0.132 benign 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs753463627 8q12.3 8 63186427G> A null S N 88 88 missense 0.143 benign 0.21 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1257556040 8q12.3 8 63186451A> G null Q R 96 96 missense 0.063 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs970092062 8q12.3 8 63186453A> G null S G 97 97 missense 0.132 benign 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs757245389 8q12.3 8 63186455T> A null S R 97 97 missense 0.441 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1387898634 8q12.3 8 63186471A> G null S G 103 103 missense 0.046 benign 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs906756052 8q12.3 8 63186495C> G null L V 111 111 missense 0.157 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1356070814 8q12.3 8 63186499G> T null G V 112 112 missense 0.326 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs745618517 8q12.3 8 63186505C> G null A G 114 114 missense 0.16 benign 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1003733429 8q12.3 8 63186517G> C null G A 118 118 missense 0.992 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1454606619 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63186522G> A null A T 120 120 missense 0.515 possibly damaging 0.99 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1295524712 8q12.3 8 63186526G> A null G E 121 121 missense 0.452 possibly damaging 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs573898918 8q12.3 8 63186535A> G null N S 124 124 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs781222654 8q12.3 8 63186541C> A null T N 126 126 missense 0.017 benign 0.05 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs781222654 8q12.3 8 63186541C> G null T S 126 126 missense 0.0 benign 0.24 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1374578995 8q12.3 8 63186544T> G null L W 127 127 missense 0.005 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs748417403 8q12.3 8 63186548T> A null S R 128 128 missense 0.0 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs769696584 8q12.3 8 63186553T> G null V G 130 130 missense 0.0 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs778188005 8q12.3 8 63186561A> G null I V 133 133 missense 0.007 benign 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs749430267 8q12.3 8 63186565G> T null S I 134 134 missense 0.137 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs771410194 8q12.3 8 63186567A> G null S G 135 135 missense 0.023 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1186727270 8q12.3 8 63186571T> C null I T 136 136 missense 0.95 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1358702676 8q12.3 8 63186570A> G null I V 136 136 missense 0.785 possibly damaging 0.51 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1421266578 8q12.3 8 63186575G> C null E D 137 137 missense 0.0 benign 0.28 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs774882606 8q12.3 8 63186577A> C null Q P 138 138 missense 0.954 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1406665873 8q12.3 8 63186579G> A null G S 139 139 missense 0.396 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs13255728 8q12.3 8 63186585A> G null T A 141 141 missense 0.0 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs13255987 8q12.3 8 63186586C> G null T S 141 141 missense 0.001 benign 0.73 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1387989520 8q12.3 8 63186610T> G null L R 149 149 missense 0.125 benign 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs767933495 8q12.3 8 63186612A> G null T A 150 150 missense 0.0 benign 0.73 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs760368020 8q12.3 8 63186615G> C null A P 151 151 missense 0.543 possibly damaging 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ExAC,gnomAD rs544382837 8q12.3 8 63186618G> T null A S 152 152 2.0E-4 missense 0.039 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC rs753373699 8q12.3 8 63186633G> A null V I 157 157 missense 0.265 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs750251668 8q12.3 8 63186636G> C null G R 158 158 missense 0.278 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs756867588 8q12.3 8 63186639A> G null T A 159 159 missense 0.0 benign 0.17 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs758071490 8q12.3 8 63186655G> A null S N 164 164 missense 0.0 benign 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs772802725 8q12.3 8 63186657G> A null G S 165 165 missense 0.795 possibly damaging 0.4 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1411811367 8q12.3 8 63186661T> C null M T 166 166 missense 0.084 benign 0.8 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201903186 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63186667G> A null S N 168 168 missense 0.324 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1429741243 8q12.3 8 63186676C> T null T I 171 171 missense 0.006 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs771034100 8q12.3 8 63186679A> G null N S 172 172 missense 0.003 benign 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs749338824 8q12.3 8 63186678A> T null N Y 172 172 missense 0.298 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61740399 8q12.3 8 63186682G> A null S N 173 173 0.009185 missense 0.0 benign 0.24 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1401328415 8q12.3 8 63186688C> T null P L 175 175 missense 0.0 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1563401820 8q12.3 8 63186687C> T null P S 175 175 missense 0.141 benign 0.13 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1320405161 8q12.3 8 63186691C> T null P L 176 176 missense 0.481 possibly damaging 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1436049766 8q12.3 8 63186694T> G null V G 177 177 missense 0.059 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs746387401 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63186697G> A null S N 178 178 missense 0.003 benign 0.37 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs746387401 8q12.3 8 63186697G> C null S T 178 178 missense 0.054 benign 0.43 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs987018453 8q12.3 8 63186700G> C null S T 179 179 missense 0.05 benign 0.83 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1347776731 8q12.3 8 63186709C> T null P L 182 182 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1487556492 8q12.3 8 63186711A> G null K E 183 183 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs772519482 8q12.3 8 63186714C> G null P A 184 184 missense 0.007 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs760992097 8q12.3 8 63186718C> T null T I 185 185 missense 0.001 benign 0.22 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs776453859 8q12.3 8 63186720T> A null S T 186 186 missense 0.899 possibly damaging 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs764853148 8q12.3 8 63186732A> G null I V 190 190 missense 0.785 possibly damaging 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370117149 8q12.3 8 63186738A> G null R G 192 192 missense 0.026 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs920033275 8q12.3 8 63186756C> T null Q * 198 198 stop gained 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1470484863 8q12.3 8 63186760C> T null P L 199 199 missense 0.005 benign 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs751349389 8q12.3 8 63186759C> T null P S 199 199 missense 0.5 possibly damaging 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1401403842 8q12.3 8 63186771C> A null P T 203 203 missense 0.992 probably damaging 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1387183451 8q12.3 8 63186774A> G null K E 204 204 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1301644028 8q12.3 8 63186780A> C null N H 206 206 missense 0.27 benign 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200284548 8q12.3 8 63186781A> G null N S 206 206 5.99E-4 missense 0.0 benign 0.43 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1301644028 8q12.3 8 63186780A> T null N Y 206 206 missense 0.27 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1367728289 8q12.3 8 63186789A> G null I V 209 209 missense 0.0 benign 0.55 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC rs779043943 8q12.3 8 63186796G> T null G V 211 211 missense 0.0 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs745990022 8q12.3 8 63186798T> C null S P 212 212 missense 0.0 benign 0.44 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs772608530 8q12.3 8 63186801G> C null A P 213 213 missense 0.266 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs780463786 8q12.3 8 63186802C> T null A V 213 213 missense 0.037 benign 0.13 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1444993722 8q12.3 8 63186808C> T null P L 215 215 missense 0.0 benign 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs747337578 8q12.3 8 63186819A> G null I V 219 219 missense 0.785 possibly damaging 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs771234146 8q12.3 8 63186822A> G null K E 220 220 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1244667483 8q12.3 8 63186829A> G null N S 222 222 missense 0.015 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs962515764 8q12.3 8 63186833G> T null M I 223 223 missense 0.0 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1046018521 8q12.3 8 63186832T> C null M T 223 223 missense 0.01 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs769164848 8q12.3 8 63186831A> G null M V 223 223 missense 0.0 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1276218385 8q12.3 8 63186834A> C null N H 224 224 missense 0.796 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs776365957 8q12.3 8 63186837A> G null I V 225 225 missense 0.006 benign 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs973902131 8q12.3 8 63186851T> G null D E 229 229 missense 0.0 benign 0.28 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1234964985 8q12.3 8 63186856A> G null K R 231 231 missense 0.956 probably damaging 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs761562716 8q12.3 8 63186859G> T null G V 232 232 missense 0.131 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs769401599 8q12.3 8 63186862C> T null S L 233 233 missense 0.043 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1483110032 8q12.3 8 63186864G> C null V L 234 234 missense 0.0 benign 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1328292355 8q12.3 8 63186867G> A null V I 235 235 missense 0.003 benign 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs772767802 8q12.3 8 63186870A> G null K E 236 236 missense 0.355 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs762422750 8q12.3 8 63186873G> A null A T 237 237 missense 0.0 benign 0.14 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1440257654 8q12.3 8 63186874C> T null A V 237 237 missense 0.034 benign 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs766311978 8q12.3 8 63186877C> A null P Q 238 238 missense 0.994 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1251739533 8q12.3 8 63186876C> A null P T 238 238 missense 0.992 probably damaging 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1001639777 8q12.3 8 63186880C> T null P L 239 239 missense 0.0 benign 0.37 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1001639777 8q12.3 8 63186880C> A null P Q 239 239 missense 0.043 benign 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1032663224 8q12.3 8 63186882A> G null T A 240 240 missense 0.0 benign 0.87 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs759282105 8q12.3 8 63186883C> A null T N 240 240 missense 0.0 benign 0.54 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1167632086 8q12.3 8 63186888C> T null P S 242 242 missense 0.0 benign 0.75 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1464419119 8q12.3 8 63186894C> A null L M 244 244 missense 0.025 benign 0.26 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs767300438 8q12.3 8 63186897C> A null P T 245 245 missense 0.992 probably damaging 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1419190017 8q12.3 8 63186903C> G null Q E 247 247 missense 0.857 possibly damaging 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs892910092 8q12.3 8 63186907C> T null T I 248 248 missense 0.103 benign 0.17 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1009961596 8q12.3 8 63186913T> G null I S 250 250 missense 0.04 benign 0.65 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1047701169 8q12.3 8 63186922C> T null P L 253 253 missense 0.202 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1047701169 8q12.3 8 63186922C> G null P R 253 253 missense 0.202 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs765423467 8q12.3 8 63186942C> T null P S 260 260 missense 0.047 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1020473519 8q12.3 8 63186955A> G null Q R 264 264 missense 0.901 possibly damaging 0.52 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs955485957 8q12.3 8 63186961A> G null Q R 266 266 missense 0.047 benign 0.6 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1432857863 8q12.3 8 63186971A> T null Q H 269 269 missense 0.0 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1225737280 8q12.3 8 63186979C> T null P L 272 272 missense 0.0 benign 0.71 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs758438116 8q12.3 8 63186985C> A null P Q 274 274 missense 0.0 benign 0.2 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs780560299 8q12.3 8 63186988C> G null P R 275 275 missense 0.076 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1392203257 8q12.3 8 63186987C> T null P S 275 275 missense 0.047 benign 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs939616143 8q12.3 8 63186993C> T null P S 277 277 missense 0.0 benign 0.31 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs964314471 8q12.3 8 63187000A> G null Q R 279 279 missense 0.009 benign 0.42 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs974503837 8q12.3 8 63187003A> C null Q P 280 280 missense 0.185 benign 0.24 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs781688462 8q12.3 8 63187008G> C null G R 282 282 missense 0.108 benign 0.32 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs772783105 8q12.3 8 63187015A> G null Q R 284 284 missense 0.025 benign 0.46 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1272978886 8q12.3 8 63187024C> G null A G 287 287 missense 0.25 benign 0.51 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1476575863 8q12.3 8 63187023G> C null A P 287 287 missense 0.006 benign 0.82 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1171224886 8q12.3 8 63187027A> C null Q P 288 288 missense 0.058 benign 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs774204229 8q12.3 8 63187030C> G null P R 289 289 missense 0.054 benign 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs568180760 8q12.3 8 63187029C> T null P S 289 289 9.98E-4 missense 0.001 benign 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1336741967 8q12.3 8 63187035C> G null Q E 291 291 missense 0.007 benign 0.41 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs759461793 8q12.3 8 63187037A> C null Q H 291 291 missense 0.0 benign 0.55 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1563402465 8q12.3 8 63187039T> C null V A 292 292 missense 0.0 benign 0.51 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC rs760500603 8q12.3 8 63187064G> T null Q H 300 300 missense 0.0 benign 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs765457330 8q12.3 8 63187067T> A null N K 301 301 missense 0.018 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1272869293 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187069G> A null R H 302 302 missense 0.551 possibly damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1322639186 8q12.3 8 63187078C> T null A V 305 305 missense 0.003 benign 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1204215985 8q12.3 8 63187080C> G null P A 306 306 missense 0.187 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs750632736 8q12.3 8 63187083C> T null R C 307 307 missense 0.116 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl,NCI-TCGA rs563216596 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187084G> A null R H 307 307 missense 0.089 benign 0.08 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs751757480 8q12.3 8 63187099G> T null G V 312 312 missense 0.145 benign 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs755530257 8q12.3 8 63187104A> C null N H 314 314 missense 0.0 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs781777381 8q12.3 8 63187109G> C null Q H 315 315 missense 0.0 benign 0.23 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201205275 8q12.3 8 63187114A> G null N S 317 317 missense 0.0 benign 0.8 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs756469901 8q12.3 8 63187119G> A null A T 319 319 missense 0.003 benign 0.48 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs777437074 8q12.3 8 63187120C> T null A V 319 319 missense 0.0 benign 0.52 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs770679480 8q12.3 8 63187125A> G null S G 321 321 missense 0.0 benign 0.57 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1287802036 8q12.3 8 63187136T> G null F L 324 324 missense 0.024 benign 0.65 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs773834763 8q12.3 8 63187138G> C null G A 325 325 missense 0.025 benign 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1383562606 8q12.3 8 63187140T> A null L I 326 326 missense 0.147 benign 0.47 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs771964036 8q12.3 8 63187143G> A null G S 327 327 missense 0.997 probably damaging 0.09 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs763809507 8q12.3 8 63187150T> C null V A 329 329 missense 0.023 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375247562 8q12.3 8 63187149G> A null V I 329 329 missense 0.001 benign 0.28 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs773417481 8q12.3 8 63187153C> T null P L 330 330 missense 0.133 benign 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs765997680 8q12.3 8 63187155G> C null V L 331 331 missense 0.0 benign 0.68 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1208284167 8q12.3 8 63187162C> T null A V 333 333 missense 0.001 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs766768080 8q12.3 8 63187165C> T null S L 334 334 missense 0.08 benign 0.18 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs751669769 8q12.3 8 63187167C> T null P S 335 335 missense 0.035 benign 0.12 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1250181631 8q12.3 8 63187174G> C null S T 337 337 missense 0.039 benign 0.38 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1348702383 8q12.3 8 63187189C> G null P R 342 342 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368150163 8q12.3 8 63187191G> T null V L 343 343 missense 0.038 benign 0.16 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368150163 [NCI-TCGA]: Variant assessed as Somatic; impact. 8q12.3 8 63187191G> A null V M 343 343 missense 0.015 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs756447302 8q12.3 8 63187194C> A null L M 344 344 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs777992273 8q12.3 8 63187197G> A null E K 345 345 missense 0.971 probably damaging 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1405286308 8q12.3 8 63187207A> G null K R 348 348 missense 0.003 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs756835273 8q12.3 8 63187209G> T null A S 349 349 missense 0.005 benign 0.57 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1018108836 8q12.3 8 63187214A> G null I M 350 350 missense 0.003 benign 0.15 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1357749375 8q12.3 8 63187215A> T null N Y 351 351 missense 0.994 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1371019684 8q12.3 8 63187234A> C null D A 357 357 missense 0.991 probably damaging 0.05 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs771592020 8q12.3 8 63187246A> G null N S 361 361 missense 0.0 benign 0.14 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs779908098 8q12.3 8 63187249T> C null L P 362 362 missense 0.007 benign 0.22 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1291282762 8q12.3 8 63187252A> G null K R 363 363 missense 0.956 probably damaging 0.22 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1360480915 8q12.3 8 63187260C> T null R C 366 366 missense 0.005 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs761718898 8q12.3 8 63187296A> G null I V 378 378 missense 0.935 probably damaging 0.11 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC rs771248491 8q12.3 8 63187306C> G null S C 381 381 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1181250118 8q12.3 8 63187308A> C null I L 382 382 missense 0.935 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs767721927 8q12.3 8 63187318C> T null S F 385 385 missense 0.621 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs759642549 8q12.3 8 63187317T> A null S T 385 385 missense 0.005 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs753185035 8q12.3 8 63187320A> G null I V 386 386 missense 0.001 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs761069568 8q12.3 8 63187337G> C null E D 391 391 missense 0.148 benign 0.19 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1298660867 8q12.3 8 63187348A> G null K R 395 395 missense 0.989 probably damaging 0.06 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1375498529 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187351G> A null R H 396 396 missense 0.623 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1406842826 8q12.3 8 63187362G> A null A T 400 400 missense 0.635 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs892773232 8q12.3 8 63187368C> T null R C 402 402 missense 0.022 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs764707405 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187369G> A null R H 402 402 missense 0.013 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs757647498 8q12.3 8 63187390C> A null P Q 409 409 missense 0.784 possibly damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs750088240 8q12.3 8 63187392C> G null L V 410 410 missense 0.413 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367772925 8q12.3 8 63187396A> G null Y C 411 411 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1460389250 8q12.3 8 63187401C> T null L F 413 413 missense 0.996 probably damaging 0.55 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs764411560 8q12.3 8 63187402T> C null L P 413 413 missense 0.998 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs746588064 8q12.3 8 63187404T> G null F V 414 414 missense 0.982 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1563403044 8q12.3 8 63187407A> G null S G 415 415 missense 0.199 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs878945635 8q12.3 8 63187425C> T null H Y 421 421 missense 0.982 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1417013252 8q12.3 8 63187453C> G null S C 430 430 missense 0.996 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs890870386 8q12.3 8 63187455G> C null V L 431 431 missense 0.028 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375939861 8q12.3 8 63187458G> T null V L 432 432 2.0E-4 missense 0.983 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1170926529 8q12.3 8 63187461G> A null D N 433 433 missense 0.994 probably damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs751873623 8q12.3 8 63187465A> G null Y C 434 434 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs751873623 8q12.3 8 63187465A> C null Y S 434 434 missense 0.995 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372046184 8q12.3 8 63187471C> A null A E 436 436 missense 0.903 possibly damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372046184 8q12.3 8 63187471C> G null A G 436 436 missense 0.802 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372046184 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187471C> T null A V 436 436 missense 0.545 possibly damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1454690692 8q12.3 8 63187474A> G null Y C 437 437 missense 0.017 benign 0.45 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,gnomAD rs369089663 8q12.3 8 63187477C> T null A V 438 438 missense 0.737 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1361563740 8q12.3 8 63187495A> G null D G 444 444 missense 0.994 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1215472863 8q12.3 8 63187504A> G null K R 447 447 missense 0.989 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs777214855 8q12.3 8 63187510A> G null K R 449 449 missense 0.989 probably damaging 0.39 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs765589874 8q12.3 8 63187516A> G null E G 451 451 missense 0.18 benign 0.04 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1026949046 8q12.3 8 63187529C> G null I M 455 455 missense 0.29 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,TOPMed,gnomAD rs372861604 8q12.3 8 63187531T> G null F C 456 456 missense 0.933 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1264372502 8q12.3 8 63187534T> C null V A 457 457 missense 0.374 benign 0.1 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs766105168 8q12.3 8 63187537A> G null K R 458 458 missense 0.007 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1239967302 8q12.3 8 63187542G> A null V I 460 460 missense 0.449 possibly damaging 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs751003990 8q12.3 8 63187546C> G null P R 461 461 missense 0.812 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs780945794 8q12.3 8 63187555A> C null Q P 464 464 missense 0.604 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1429953895 8q12.3 8 63187569C> T null R C 469 469 missense 0.667 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl,NCI-TCGA rs767444673 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187570G> A null R H 469 469 missense 0.005 benign 0.02 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs772389646 8q12.3 8 63187588A> G null N S 475 475 missense 0.374 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1290925370 8q12.3 8 63187594C> T null P L 477 477 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1272771307 8q12.3 8 63187621A> T null E V 486 486 missense 0.031 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1322236802 8q12.3 8 63187623G> A null V I 487 487 missense 0.031 benign 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs762303497 8q12.3 8 63187633A> G null E G 490 490 missense 0.808 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs867011657 8q12.3 8 63187638G> T null A S 492 492 missense 0.414 benign 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1489782307 8q12.3 8 63187663C> G null A G 500 500 missense 0.405 benign 0.3 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs765792093 8q12.3 8 63187662G> T null A S 500 500 missense 0.089 benign 0.96 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1198456744 8q12.3 8 63187665A> G null T A 501 501 missense 0.007 benign 0.07 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1269450252 8q12.3 8 63187666C> G null T S 501 501 missense 0.096 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1156822759 8q12.3 8 63187669T> A null F Y 502 502 missense 0.01 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1043923299 8q12.3 8 63187678C> G null T S 505 505 missense 0.028 benign 0.27 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1407343819 8q12.3 8 63187686A> G null I V 508 508 missense 0.785 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1161527430 8q12.3 8 63187692G> C null D H 510 510 missense 0.67 possibly damaging 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1161527430 8q12.3 8 63187692G> A null D N 510 510 missense 0.005 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1404680481 8q12.3 8 63187717G> A null R H 518 518 missense 0.0 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1304158076 8q12.3 8 63187723A> G null E G 520 520 missense 0.968 probably damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs1324764103 8q12.3 8 63187722G> A null E K 520 520 missense 0.956 probably damaging 0.03 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1440659752 8q12.3 8 63187738T> C null M T 525 525 missense 0.017 benign 0.28 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373841599 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187740C> T null R C 526 526 missense 0.412 benign 0.05 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs765910246 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q12.3 8 63187741G> A null R H 526 526 missense 0.116 benign 0.0 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,TOPMed,gnomAD rs751249316 8q12.3 8 63187744G> A null R K 527 527 missense 0.0 benign 1.0 tolerated 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs764086442 8q12.3 8 63209686A> G null R G 529 529 missense 0.879 possibly damaging 0.01 deleterious 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a Ensembl rs1554541478 8q12.3 8 63209697C> A null N K 532 532 missense 0.932 probably damaging 0.01 deleterious - low confidence 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202058325 8q12.3 8 63209696A> G null N S 532 532 5.99E-4 missense 0.899 possibly damaging 0.34 tolerated - low confidence 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed rs13274195 8q12.3 8 63209700A> C null K N 533 533 missense 0.95 probably damaging 0.0 deleterious - low confidence 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a ExAC,gnomAD rs756945996 8q12.3 8 63209705A> T null * L 535 535 stop lost 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a gnomAD rs1437102436 8q12.3 8 63209704T> C null * Q 535 535 stop lost 0 A0A024R7W5 YTHDF3 YTH domain family, member 3, isoform CRA_a TOPMed,gnomAD rs1192838384 8q12.3 8 63209704_63209706de l null * del 535 535 stop lost 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1166024852 9q34.13 9 132986682C> A null P T 2 2 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1472210411 9q34.13 9 132986685C> T null R C 3 3 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs528249677 9q34.13 9 132986705C> A null S R 9 9 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1431101028 9q34.13 9 132986712G> A null A T 12 12 missense 0.312 benign 0.05 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1009956222 9q34.13 9 132986715C> T null H Y 13 13 missense 0.073 benign 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1564177115 9q34.13 9 132986719C> T null T I 14 14 missense 0.697 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1481886997 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:23619168,cosmic_study:561 9q34.13 9 132986718A> T null T S 14 14 missense 0.043 benign 0.99 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1021775815 9q34.13 9 132986726C> G null H Q 16 16 missense 0.999 probably damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1361526628 9q34.13 9 132986731C> T null P L 18 18 missense 1.0 probably damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1292353837 9q34.13 9 132986730C> T null P S 18 18 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs753257069 9q34.13 9 132986733C> T null R C 19 19 missense 0.171 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,gnomAD rs143455917 9q34.13 9 132986734G> A null R H 19 19 missense 0.171 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs776935786 9q34.13 9 132986742G> A null E K 22 22 missense 0.393 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1370237253 9q34.13 9 132986746A> G null D G 23 23 missense 0.46 possibly damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs544599977 9q34.13 9 132986745G> A null D N 23 23 0.004593 missense 0.041 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs556644999 9q34.13 9 132986748G> T null E * 24 24 2.0E-4 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs775541235 9q34.13 9 132986749A> G null E G 24 24 missense 0.003 benign 0.45 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs556644999 9q34.13 9 132986748G> A null E K 24 24 2.0E-4 missense 0.197 benign 0.49 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,NCI-TCGA,gnomAD rs764276098 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132986752C> T null P L 25 25 missense 0.015 benign 0.45 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs764276098 9q34.13 9 132986752C> A null P Q 25 25 missense 0.93 probably damaging 0.12 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs938560000 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 9q34.13 9 132986751C> T null P S 25 25 missense 0.697 possibly damaging 0.25 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs1143162 9q34.13 9 132986764C> A null P H 29 29 missense 0.866 possibly damaging 0.05 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs1143162 9q34.13 9 132986764C> T null P L 29 29 missense 0.025 benign 0.21 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1402824889 9q34.13 9 132986763C> T null P S 29 29 missense 0.043 benign 0.05 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs778609270 9q34.13 9 132986769C> T null L F 31 31 missense 0.018 benign 0.18 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1446582350 9q34.13 9 132986773C> T null T I 32 32 missense 0.001 benign 0.09 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1446582350 9q34.13 9 132986773C> A null T N 32 32 missense 0.038 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1564177246 9q34.13 9 132986772A> T null T S 32 32 missense 0.0 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1446582350 9q34.13 9 132986773C> G null T S 32 32 missense 0.0 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs568826386 9q34.13 9 132986776C> T null P L 33 33 2.0E-4 missense 0.698 possibly damaging 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114955344 9q34.13 9 132986778G> A null V M 34 34 0.006589 missense 0.694 possibly damaging 0.25 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1344576755 9q34.13 9 132987285C> A null P H 35 35 missense 0.451 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs975575009 9q34.13 9 132987287A> G null R G 36 36 missense 0.001 benign 0.5 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1316317138 9q34.13 9 132987297C> G null A G 39 39 missense 0.003 benign 0.42 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377661083 9q34.13 9 132987299C> T null P S 40 40 missense 0.003 benign 0.82 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs776592642 9q34.13 9 132987318T> G null L R 46 46 missense 0.776 possibly damaging 0.3 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1443015063 9q34.13 9 132987321G> A null S N 47 47 missense 0.012 benign 0.19 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370708708 9q34.13 9 132987322C> G null S R 47 47 missense 0.444 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1202082073 9q34.13 9 132987323A> T null T S 48 48 missense 0.026 benign 0.64 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs947590696 9q34.13 9 132987326C> G null L V 49 49 missense 0.018 benign 0.28 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139685732 9q34.13 9 132987329T> C null F L 50 50 0.001797 missense 0.001 benign 0.8 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1373207619 9q34.13 9 132987335A> T null N Y 52 52 missense 0.5 possibly damaging 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs545885234 9q34.13 9 132987347G> T null D Y 56 56 2.0E-4 missense 0.694 possibly damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs934326404 9q34.13 9 132987352G> C null W C 57 57 missense 0.106 benign 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1364914633 9q34.13 9 132987350T> C null W R 57 57 missense 0.967 probably damaging 0.32 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202104252 9q34.13 9 132987354C> T null T I 58 58 3.99E-4 missense 0.243 benign 0.19 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202104252 9q34.13 9 132987354C> A null T N 58 58 3.99E-4 missense 0.005 benign 0.64 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149810016 9q34.13 9 132987359C> T null L F 60 60 0.007188 missense 0.007 benign 0.34 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs149810016 9q34.13 9 132987359C> A null L I 60 60 0.007188 missense 0.005 benign 0.18 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1381935874 9q34.13 9 132987360T> C null L P 60 60 missense 0.007 benign 0.13 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1296372718 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 9q34.13 9 132987365C> T null R * 62 62 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs749864797 9q34.13 9 132987366G> A null R Q 62 62 missense 0.005 benign 0.58 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs755483011 9q34.13 9 132987372C> T null P L 64 64 missense 0.207 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs755483011 9q34.13 9 132987372C> G null P R 64 64 missense 0.022 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1360853713 9q34.13 9 132987375A> G null E G 65 65 missense 0.0 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373691272 9q34.13 9 132987381A> G null E G 67 67 missense 0.005 benign 0.36 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs748212888 9q34.13 9 132987380G> C null E Q 67 67 missense 0.014 benign 0.41 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs778075619 9q34.13 9 132987390A> G null Q R 70 70 missense 0.003 benign 0.46 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs745670907 9q34.13 9 132987396T> C null L S 72 72 missense 0.046 benign 0.15 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs769769380 9q34.13 9 132987398G> T null A S 73 73 missense 0.003 benign 0.84 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1429729062 9q34.13 9 132987401A> G null R G 74 74 missense 0.236 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1429729062 9q34.13 9 132987401A> T null R W 74 74 missense 0.926 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs775420059 9q34.13 9 132987404A> C null M L 75 75 missense 0.0 benign 0.78 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1384514886 9q34.13 9 132987405T> G null M R 75 75 missense 0.078 benign 0.63 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,gnomAD rs368601873 9q34.13 9 132987411C> T null P L 77 77 missense 0.0 benign 0.29 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1022720842 9q34.13 9 132987419G> A null E K 80 80 missense 0.041 benign 0.43 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115534814 9q34.13 9 132988200G> T null G V 81 81 0.004593 missense 0.027 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs760373604 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132988202C> T null P S 82 82 missense 0.015 benign 0.34 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs760373604 9q34.13 9 132988202C> A null P T 82 82 missense 0.236 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs765677480 9q34.13 9 132988214T> A null S T 86 86 missense 0.272 benign 0.31 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1220919198 9q34.13 9 132988217C> T null R * 87 87 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200908551 9q34.13 9 132988218G> C null R P 87 87 missense 0.626 possibly damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200908551 9q34.13 9 132988218G> A null R Q 87 87 missense 0.007 benign 0.47 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1263195120 9q34.13 9 132988221C> G null P R 88 88 missense 0.361 benign 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs767778204 9q34.13 9 132988230G> A null G E 91 91 missense 0.046 benign 0.33 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs565772612 cosmic curated [Cosmic]: central_nervous_system pubmed:24140581,cosmic_study:548 9q34.13 9 132988229G> A null G R 91 91 3.99E-4 missense 0.031 benign 0.5 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1470967398 9q34.13 9 132988236C> T null S F 93 93 missense 0.436 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781432577 9q34.13 9 132988245C> T null S F 96 96 missense 0.924 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145562579 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 9q34.13 9 132988247G> A null D N 97 97 0.01178 missense 0.027 benign 0.23 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143926538 9q34.13 9 132988251C> A null S * 98 98 2.0E-4 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs143926538 9q34.13 9 132988251C> T null S L 98 98 2.0E-4 missense 0.891 possibly damaging 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs142654869 9q34.13 9 132988257C> A null P Q 100 100 missense 0.945 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs142654869 9q34.13 9 132988257C> G null P R 100 100 missense 0.927 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs771980295 9q34.13 9 132988256C> A null P T 100 100 missense 0.16 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1205060414 9q34.13 9 132988265A> C null K Q 103 103 missense 1.0 probably damaging 0.07 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372809223 9q34.13 9 132988268C> G null P A 104 104 missense 0.999 probably damaging 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs759097390 9q34.13 9 132988272G> C null S T 105 105 missense 0.121 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1481562524 9q34.13 9 132988283G> T null D Y 109 109 missense 0.991 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed rs763603738 9q34.13 9 132988289T> G null L V 111 111 missense 0.999 probably damaging 0.12 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1168624885 9q34.13 9 132988293C> A null A D 112 112 missense 0.927 probably damaging 0.12 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs764644794 9q34.13 9 132988296C> T null T I 113 113 missense 0.038 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1047946772 9q34.13 9 132988299C> T null T I 114 114 missense 0.161 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1047946772 9q34.13 9 132988299C> G null T S 114 114 missense 0.0 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1204188537 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 9q34.13 9 132988304G> A null G S 116 116 missense 0.011 benign 0.4 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1479272040 9q34.13 9 132988315C> A null Y * 119 119 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs533662277 9q34.13 9 132988316C> G null R G 120 120 2.0E-4 missense 0.005 benign 0.23 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1304184399 9q34.13 9 132988317G> A null R Q 120 120 missense 0.005 benign 0.32 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs533662277 9q34.13 9 132988316C> T null R W 120 120 2.0E-4 missense 0.663 possibly damaging 0.05 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs750711297 9q34.13 9 132988319C> T null Q * 121 121 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs77329269 9q34.13 9 132988323C> G null A G 122 122 missense 0.015 benign 0.37 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs77329269 9q34.13 9 132988323C> T null A V 122 122 missense 0.341 benign 0.51 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1317829813 9q34.13 9 132988325C> T null P S 123 123 missense 0.686 possibly damaging 0.37 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1317829813 9q34.13 9 132988325C> A null P T 123 123 missense 0.783 possibly damaging 0.23 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs778821265 cosmic curated [Cosmic]: urinary_tract cosmic_study:581 9q34.13 9 132988328T> C null S P 124 124 missense 0.159 benign 0.08 tolerated 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs758366716 9q34.13 9 132988331A> C null T P 125 125 missense 0.937 probably damaging 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1274965157 9q34.13 9 132988334A> G null M V 126 126 missense 0.007 benign 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1357251258 9q34.13 9 132988343G> A null A T 129 129 missense 0.89 possibly damaging 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1396268669 9q34.13 9 132988347T> G null F C 130 130 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs770534417 9q34.13 9 132988350T> C null L P 131 131 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs776000235 9q34.13 9 132988356A> C null H P 133 133 missense 0.265 benign 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs775944163 9q34.13 9 132988362T> C null V A 135 135 missense 0.997 probably damaging 0.21 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs372949898 9q34.13 9 132988361G> T null V F 135 135 missense 1.0 probably damaging 0.13 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs372949898 9q34.13 9 132988361G> A null V I 135 135 missense 0.997 probably damaging 0.13 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1475760647 9q34.13 9 132988367C> A null L M 137 137 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140090505 9q34.13 9 132988373G> T null G C 139 139 3.99E-4 missense 1.0 probably damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140090505 9q34.13 9 132988373G> C null G R 139 139 3.99E-4 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140090505 9q34.13 9 132988373G> A null G S 139 139 3.99E-4 missense 1.0 probably damaging 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1049709369 9q34.13 9 132988376A> T null S C 140 140 missense 0.952 probably damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs767699735 9q34.13 9 132988379C> T null P S 141 141 missense 1.0 probably damaging 0.2 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs750451502 9q34.13 9 132988385G> A null V M 143 143 missense 0.248 benign 0.19 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs756385747 9q34.13 9 132988391A> G null S G 145 145 missense 0.03 benign 0.17 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1418256970 9q34.13 9 132988395C> A null T N 146 146 missense 0.255 benign 0.2 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1315739296 9q34.13 9 132988401C> T null P L 148 148 missense 0.894 possibly damaging 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1430790946 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132988403G> A null A T 149 149 missense 0.087 benign 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368905369 9q34.13 9 132988413T> A null F Y 152 152 missense 0.012 benign 0.59 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs150284911 9q34.13 9 132988418C> G null L V 154 154 missense 0.073 benign 0.21 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78837507 9q34.13 9 132988421C> T null R C 155 155 5.99E-4 missense 0.742 possibly damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs560461496 9q34.13 9 132988422G> A null R H 155 155 2.0E-4 missense 0.005 benign 0.69 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs560461496 9q34.13 9 132988422G> T null R L 155 155 2.0E-4 missense 0.278 benign 0.21 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78837507 9q34.13 9 132988421C> A null R S 155 155 5.99E-4 missense 0.014 benign 0.31 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs745314098 9q34.13 9 132988427T> C null S P 157 157 missense 0.185 benign 0.1 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs951366034 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132988430C> G null P A 158 158 missense 0.999 probably damaging 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs951366034 9q34.13 9 132988430C> T null P S 158 158 missense 0.999 probably damaging 0.13 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1414620986 9q34.13 9 132988434G> A null G D 159 159 missense 0.783 possibly damaging 0.29 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1376447537 9q34.13 9 132988436A> G null M V 160 160 missense 0.007 benign 0.32 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769515561 9q34.13 9 132988443C> T null A V 162 162 missense 0.007 benign 0.15 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs779785796 9q34.13 9 132988449A> G null H R 164 164 missense 0.015 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1241436394 9q34.13 9 132988452G> A null C Y 165 165 missense 0.945 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs754085243 9q34.13 9 132988457A> G null K E 167 167 missense 0.197 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs754085243 9q34.13 9 132988457A> C null K Q 167 167 missense 0.046 benign 0.08 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1184678414 9q34.13 9 132988458A> G null K R 167 167 missense 0.018 benign 0.09 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs527297896 9q34.13 9 132988461G> T null C F 168 168 9.98E-4 missense 0.913 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1468878225 9q34.13 9 132988467A> T null K M 170 170 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1468878225 9q34.13 9 132988467A> G null K R 170 170 missense 0.792 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1027855830 9q34.13 9 132989062T> C null V A 171 171 missense 0.997 probably damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142421593 9q34.13 9 132989061G> T null V F 171 171 3.99E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142421593 9q34.13 9 132989061G> A null V I 171 171 3.99E-4 missense 0.997 probably damaging 0.06 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1195749893 cosmic curated [Cosmic]: large_intestine cosmic_study:375 9q34.13 9 132989064T> C null F L 172 172 missense 0.995 probably damaging 0.04 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs762304847 9q34.13 9 132989070A> G null T A 174 174 missense 0.628 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376762177 9q34.13 9 132989071C> T null T I 174 174 missense 0.16 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376762177 9q34.13 9 132989071C> A null T N 174 174 missense 0.959 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,gnomAD rs146007027 9q34.13 9 132989074C> A null P H 175 175 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,gnomAD rs146007027 9q34.13 9 132989074C> T null P L 175 175 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs138653823 9q34.13 9 132989078C> G null H Q 176 176 missense 0.924 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs138653823 9q34.13 9 132989078C> A null H Q 176 176 missense 0.924 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1005136553 9q34.13 9 132989079G> A null G R 177 177 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1345110952 9q34.13 9 132989085G> A null E K 179 179 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1405838680 9q34.13 9 132989088G> T null V L 180 180 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs973515605 9q34.13 9 132989092A> T null H L 181 181 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs973515605 9q34.13 9 132989092A> G null H R 181 181 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1397252914 9q34.13 9 132989095T> G null V G 182 182 missense 0.575 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs778195914 9q34.13 9 132989097C> T null R * 183 183 stop gained 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs148728985 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 9q34.13 9 132989098G> A null R Q 183 183 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs771408008 9q34.13 9 132989100C> T null R C 184 184 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs771408008 9q34.13 9 132989100C> G null R G 184 184 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs570058270 9q34.13 9 132989101G> A null R H 184 184 5.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs748303990 9q34.13 9 132989107A> G null H R 186 186 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1269061411 9q34.13 9 132989109A> G null S G 187 187 missense 0.998 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1181677415 9q34.13 9 132989116C> T null T I 189 189 missense 0.877 possibly damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs192854759 9q34.13 9 132989119G> A null R Q 190 190 2.0E-4 missense 0.863 possibly damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144046935 [ClinVar]: Platelet-type bleeding disorder 17 9q34.13 9 132989118C> T null R W 190 190 3.99E-4 missense 0.996 probably damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000477857 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs766382842 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989127G> A null A T 193 193 missense 0.999 probably damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1364664092 9q34.13 9 132989130T> C null C R 194 194 missense 0.952 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP rs753406078 9q34.13 9 132989131G> A null C Y 194 194 missense 0.967 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs754483976 9q34.13 9 132989136A> T null I F 196 196 missense 0.323 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs754483976 9q34.13 9 132989136A> G null I V 196 196 missense 0.001 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs146440020 9q34.13 9 132989143G> A null G D 198 198 2.0E-4 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs370269669 9q34.13 9 132989142G> C null G R 198 198 9.98E-4 missense 1.0 probably damaging 0.14 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs370269669 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989142G> A null G S 198 198 9.98E-4 missense 1.0 probably damaging 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1367971464 9q34.13 9 132989149C> A null T N 200 200 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145418687 9q34.13 9 132989153C> A null F L 201 201 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781610790 9q34.13 9 132989154G> T null G C 202 202 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781610790 9q34.13 9 132989154G> C null G R 202 202 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs781610790 9q34.13 9 132989154G> A null G S 202 202 missense 1.0 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62638686 9q34.13 9 132989160G> T null A S 204 204 0.01498 missense 0.146 benign 0.24 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs62638686 9q34.13 9 132989160G> A null A T 204 204 0.01498 missense 0.053 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs768898305 9q34.13 9 132989164T> C null V A 205 205 missense 0.999 probably damaging 0.05 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1450806158 9q34.13 9 132989175C> A null Q K 209 209 missense 0.997 probably damaging 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs776772049 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989182C> T null T M 211 211 missense 0.873 possibly damaging 0.18 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1383225691 9q34.13 9 132989181A> T null T S 211 211 missense 0.047 benign 0.42 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145867669 9q34.13 9 132989187G> A null V I 213 213 3.99E-4 missense 0.026 benign 0.36 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs763764108 9q34.13 9 132989192C> A null H Q 214 214 missense 0.956 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148996720 9q34.13 9 132989190C> T null H Y 214 214 5.99E-4 missense 0.908 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,TOPMed,gnomAD rs373796028 9q34.13 9 132989198G> C null Q H 216 216 missense 0.997 probably damaging 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,TOPMed rs578136625 9q34.13 9 132989683C> T null P L 219 219 2.0E-4 missense 0.006 benign 0.03 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs900680337 9q34.13 9 132989685G> A null A T 220 220 missense 0.01 benign 0.08 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,TOPMed,gnomAD rs545245507 9q34.13 9 132989688G> A null G R 221 221 3.99E-4 missense 0.017 benign 0.03 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,gnomAD rs367558713 9q34.13 9 132989702G> C null E D 225 225 missense 0.014 benign 0.04 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1407468572 9q34.13 9 132989700G> C null E Q 225 225 missense 0.027 benign 0.03 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1392363464 9q34.13 9 132989709C> G null P A 228 228 missense 0.997 probably damaging 0.27 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs767905800 9q34.13 9 132989716C> T null P L 230 230 missense 0.999 probably damaging 0.59 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs761450242 9q34.13 9 132989715C> T null P S 230 230 missense 0.998 probably damaging 0.16 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs771432303 9q34.13 9 132989719C> T null P L 231 231 missense 0.062 benign 0.05 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs771432303 9q34.13 9 132989719C> G null P R 231 231 missense 0.677 possibly damaging 0.07 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs750759802 9q34.13 9 132989718C> T null P S 231 231 missense 0.238 benign 0.17 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs755145823 9q34.13 9 132989721G> C null G R 232 232 missense 0.042 benign 0.13 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs755145823 9q34.13 9 132989721G> A null G R 232 232 missense 0.042 benign 0.13 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs748424899 9q34.13 9 132989725C> T null P L 233 233 missense 0.209 benign 0.66 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1264388246 9q34.13 9 132989728A> G null H R 234 234 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs952773206 9q34.13 9 132989730T> C null F L 235 235 missense 0.979 probably damaging 0.43 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769624853 9q34.13 9 132989737G> T null R L 237 237 missense 0.99 probably damaging 0.08 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769624853 9q34.13 9 132989737G> C null R P 237 237 missense 0.996 probably damaging 0.07 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769624853 9q34.13 9 132989737G> A null R Q 237 237 missense 0.99 probably damaging 0.2 tolerated - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs759704658 9q34.13 9 132989736C> T null R W 237 237 missense 0.997 probably damaging 0.01 deleterious - low confidence 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1430002750 9q34.13 9 132989742G> A null E K 239 239 missense 0.755 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1016682120 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 9q34.13 9 132989745C> T null R C 240 240 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs762784268 9q34.13 9 132989746G> A null R H 240 240 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1016682120 9q34.13 9 132989745C> A null R S 240 240 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374075090 9q34.13 9 132989753C> G null F L 242 242 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs142322678 9q34.13 9 132989754G> A null E K 243 243 2.0E-4 missense 0.508 possibly damaging 0.09 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,TOPMed rs371395428 9q34.13 9 132989757T> C null C R 244 244 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1462798363 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989760C> T null R C 245 245 missense 0.91 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367947845 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989761G> A null R H 245 245 missense 0.832 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367947845 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132989761G> T null R L 245 245 missense 0.573 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs767105897 9q34.13 9 132989763A> C null M L 246 246 missense 0.988 probably damaging 0.05 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371084332 9q34.13 9 132989769G> A null G S 248 248 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1367615343 9q34.13 9 132989775G> C null A P 250 250 missense 0.945 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a NCI-TCGA,TOPMed rs201349915 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 9q34.13 9 132989784C> T null R C 253 253 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs761044764 cosmic curated [Cosmic]: large_intestine, [UniProt]: a colorectal cancer sample; somatic mutation pubmed:16959974 pubmed:16959974 9q34.13 9 132989785G> A null R H 253 253 missense 1.0 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs754439744 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 9q34.13 9 132989788C> T null S L 254 254 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs754439744 9q34.13 9 132989788C> G null S W 254 254 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs1554724654 9q34.13 9 132989794C> T null T M 256 256 missense 0.996 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs752776987 9q34.13 9 132989802A> C null T P 259 259 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs752776987 9q34.13 9 132989802A> T null T S 259 259 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs986660744 9q34.13 9 132989807C> G null H Q 260 260 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs758726712 9q34.13 9 132989808C> G null L V 261 261 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a dbSNP rs1564180346 [ClinVar]: Storage pool disease of platelets 9q34.13 9 132989817de l null H null 264 264 frameshift 0 Storage pool disease of platelets MIM:185050 ClinVar:RCV000710041 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1196364560 9q34.13 9 132989827C> T null T M 267 267 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1201544876 9q34.13 9 132989830G> A null R Q 268 268 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs745670434 9q34.13 9 132989829C> T null R W 268 268 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs910795219 9q34.13 9 132989833C> T null P L 269 269 missense 0.987 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1170867202 9q34.13 9 132989836A> C null Y S 270 270 missense 0.972 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1364041454 9q34.13 9 132989842G> A null C Y 272 272 missense 0.986 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1302101616 9q34.13 9 132989845A> G null Q R 273 273 missense 0.932 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs944694471 9q34.13 9 132989848T> A null F Y 274 274 missense 0.024 benign 1.0 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs749288375 9q34.13 9 132989854G> A null G D 276 276 missense 0.999 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs765446969 9q34.13 9 132989853G> A null G S 276 276 missense 0.981 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs768451177 9q34.13 9 132989859C> T null R C 278 278 missense 0.999 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs773869692 9q34.13 9 132989860G> A null R H 278 278 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1299732331 9q34.13 9 132989865C> A null H N 280 280 missense 0.997 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs866282944 9q34.13 9 132989875C> T null S F 283 283 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl,dbSNP rs1554724691 cosmic curated [ClinVar]: Inborn genetic diseases, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 9q34.13 9 132989877G> A null D N 284 284 missense 0.999 probably damaging 0.08 tolerated 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000622939 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl,dbSNP rs1554724694 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:28041820 9q34.13 9 132989886A> T null K * 287 287 stop gained 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000505272 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1053415693 9q34.13 9 132989893C> T null T I 289 289 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC rs766810669 9q34.13 9 132989899T> C null I T 291 291 missense 0.918 probably damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,gnomAD rs543334869 9q34.13 9 132989898A> G null I V 291 291 2.0E-4 missense 0.175 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1465414678 9q34.13 9 132989904A> T null T S 293 293 missense 0.805 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs759753475 9q34.13 9 132990878A> G null K R 296 296 missense 0.812 possibly damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs543214484 9q34.13 9 132990881C> T null P L 297 297 2.0E-4 missense 0.353 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs763548823 9q34.13 9 132990892C> A null Q K 301 301 missense 0.135 benign 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1166124418 9q34.13 9 132990895G> C null V L 302 302 missense 0.248 benign 0.11 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs753669252 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 9q34.13 9 132990902G> A null G E 304 304 missense 0.856 possibly damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs762113108 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 9q34.13 9 132990901G> C null G R 304 304 missense 0.249 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs762113108 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 9q34.13 9 132990901G> A null G R 304 304 missense 0.249 benign 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs753669252 9q34.13 9 132990902G> T null G V 304 304 missense 0.945 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1439794611 9q34.13 9 132990904A> C null K Q 305 305 missense 0.662 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1279137850 9q34.13 9 132990907G> T null A S 306 306 missense 0.615 possibly damaging 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1197266637 9q34.13 9 132990914G> A null S N 308 308 missense 0.041 benign 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl,dbSNP rs587777211 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:5681484 9q34.13 9 132990916C> T null Q * 309 309 stop gained 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000088664 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1041169993 9q34.13 9 132990918G> C null Q H 309 309 missense 0.789 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1230296068 9q34.13 9 132990920G> A null S N 310 310 missense 0.856 possibly damaging 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed,gnomAD rs1375064224 9q34.13 9 132990928C> T null L F 313 313 missense 0.972 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs74332772 9q34.13 9 132990934A> C null T P 315 315 missense 0.113 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a dbSNP rs397989794 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:1065298,pubmed:23927492 9q34.13 9 132990937du p null H null 316 316 frameshift 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000088665 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1225851256 9q34.13 9 132990940A> G null S G 317 317 missense 0.024 benign 0.02 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs990886827 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132990943C> T null R C 318 318 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs537470322 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q34.13 9 132990944G> A null R H 318 318 missense 0.979 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs537470322 9q34.13 9 132990944G> T null R L 318 318 missense 0.114 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs770622297 9q34.13 9 132990947A> T null K M 319 319 missense 0.955 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs770622297 9q34.13 9 132990947A> G null K R 319 319 missense 0.929 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1309426757 9q34.13 9 132990956G> A null G D 322 322 missense 0.398 benign 0.03 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1426521584 9q34.13 9 132990967T> G null F V 326 326 missense 0.823 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1390492908 9q34.13 9 132990974G> A null C Y 328 328 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs775963992 [ClinVar]: Platelet-type bleeding disorder 17 pubmed:28041820 9q34.13 9 132990980T> C null L P 330 330 missense 0.986 probably damaging 0.0 deleterious 0 Platelet-type bleeding disorder 17 (BDPLT17) MIM:187900 ClinVar:RCV000505268 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs775963992 9q34.13 9 132990980T> A null L Q 330 330 missense 0.986 probably damaging 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs769236543 9q34.13 9 132990986C> G null T S 332 332 missense 0.007 benign 0.38 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1307228755 9q34.13 9 132990991G> A null G S 334 334 missense 0.975 probably damaging 0.09 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs774517040 cosmic curated [Cosmic]: central_nervous_system pubmed:22722829,cosmic_study:401 9q34.13 9 132991000C> T null R C 337 337 missense 0.979 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs761729738 cosmic curated [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:22810696,cosmic_study:376,cosmic_study:413 9q34.13 9 132991001G> A null R H 337 337 missense 0.969 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a Ensembl rs955174616 9q34.13 9 132991009G> C null D H 340 340 missense 1.0 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs760858233 9q34.13 9 132991016G> A null R Q 342 342 missense 0.891 possibly damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs750680851 9q34.13 9 132991015C> T null R W 342 342 missense 0.99 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369095339 9q34.13 9 132991019G> T null R L 343 343 missense 0.922 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369095339 9q34.13 9 132991019G> A null R Q 343 343 missense 0.891 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs765068455 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 9q34.13 9 132991018C> T null R W 343 343 missense 0.99 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,TOPMed,gnomAD rs751095810 9q34.13 9 132991023C> G null H Q 344 344 missense 0.999 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs777505501 9q34.13 9 132991021C> T null H Y 344 344 missense 0.998 probably damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs756778026 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 9q34.13 9 132991024C> T null R C 345 345 missense 0.999 probably damaging 0.0 deleterious 1 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373040348 9q34.13 9 132991025G> A null R H 345 345 2.0E-4 missense 0.999 probably damaging 0.23 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373040348 9q34.13 9 132991025G> T null R L 345 345 2.0E-4 missense 0.999 probably damaging 0.12 tolerated 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1281439058 9q34.13 9 132991030A> G null S G 347 347 missense 0.579 possibly damaging 0.0 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a TOPMed rs1231376875 9q34.13 9 132991031G> A null S N 347 347 missense 0.575 possibly damaging 0.04 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a gnomAD rs1474417793 9q34.13 9 132991047G> C null K N 352 352 missense 0.072 benign 0.01 deleterious 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs749626626 9q34.13 9 132991049G> T null * L 353 353 stop lost 0 A0A024R8F3 GFI1B Growth factor independent 1B (Potential regulator of CDKN1A, translocated in CML), isoform CRA_a ExAC,gnomAD rs769206886 9q34.13 9 132991050A> G null * W 353 353 stop lost 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs764325302 7p14.1 7 42932155C> T null A T 2 2 missense 0.001 benign 0.09 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1250056473 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 42932154G> A null A V 2 2 missense 0.049 benign 0.02 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs763261249 7p14.1 7 42932150C> G null E D 3 3 missense 0.0 benign 1.0 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs775798679 7p14.1 7 42932148C> T null R H 4 4 missense 0.601 possibly damaging 0.1 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed rs1243162760 7p14.1 7 42932140T> C null S G 7 7 missense 0.011 benign 0.16 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type 1000Genomes,ExAC,TOPMed,gnomAD rs531717051 7p14.1 7 42932138G> C null S R 7 7 2.0E-4 missense 0.858 possibly damaging 0.01 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed,gnomAD rs1183520591 7p14.1 7 42932139C> G null S T 7 7 missense 0.028 benign 0.02 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs771543966 7p14.1 7 42932134A> G null S P 9 9 missense 0.986 probably damaging 0.02 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1338232845 7p14.1 7 42927412G> A null A V 30 30 missense 0.071 benign 0.11 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type Ensembl rs867277858 7p14.1 7 42927407C> T null G R 32 32 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs754184831 7p14.1 7 42927400G> A null P L 34 34 missense 0.208 benign 0.04 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1236350104 7p14.1 7 42927401G> A null P S 34 34 missense 0.239 benign 0.15 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ESP,ExAC,TOPMed,gnomAD rs138335219 7p14.1 7 42927395C> T null V M 36 36 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1383205899 7p14.1 7 42926647G> A null A V 47 47 missense 0.791 possibly damaging 0.09 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type Ensembl rs13233636 7p14.1 7 42926645T> G null T P 48 48 missense 0.956 probably damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs755134433 7p14.1 7 42926638T> C null K R 50 50 missense 0.484 possibly damaging 0.13 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs780277661 7p14.1 7 42926623A> C null I S 55 55 missense 0.013 benign 0.74 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs756552869 7p14.1 7 42926613A> T null D E 58 58 missense 0.039 benign 0.73 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs750906250 7p14.1 7 42926608C> T null R Q 60 60 missense 0.0 benign 0.37 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs768165675 7p14.1 7 42926604A> C null S R 61 61 missense 0.805 possibly damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed,gnomAD rs1448688040 7p14.1 7 42926600G> A null H Y 63 63 missense 0.103 benign 0.09 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1295405712 7p14.1 7 42926588G> C null P A 67 67 missense 0.0 benign 0.77 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs766018498 7p14.1 7 42926546G> A null P S 81 81 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs766040241 7p14.1 7 42924795A> G null V A 85 85 missense 0.037 benign 0.12 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs866363627 7p14.1 7 42924793G> A null L F 86 86 missense 0.355 benign 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs866363627 7p14.1 7 42924793G> C null L V 86 86 missense 0.066 benign 0.06 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs760422656 7p14.1 7 42924790C> A null V L 87 87 missense 0.025 benign 0.25 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1191527666 7p14.1 7 42924783C> T null R K 89 89 missense 0.0 benign 1.0 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ESP,ExAC,TOPMed,gnomAD rs151168516 7p14.1 7 42924777C> T null R Q 91 91 missense 0.7 possibly damaging 0.03 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs761735044 7p14.1 7 42924769C> A null A S 94 94 missense 0.756 possibly damaging 0.21 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs200851330 7p14.1 7 42924761T> A null Q H 96 96 missense 0.431 benign 0.12 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs768563334 7p14.1 7 42924756T> C null Y C 98 98 missense 0.561 possibly damaging 0.15 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs749412007 7p14.1 7 42924754G> T null L I 99 99 missense 0.084 benign 0.26 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs749412007 7p14.1 7 42924754G> C null L V 99 99 missense 0.003 benign 0.33 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs770113879 7p14.1 7 42924750A> G null V A 100 100 missense 0.001 benign 0.44 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs775538034 7p14.1 7 42924751C> A null V L 100 100 missense 0.0 benign 0.49 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs746145368 7p14.1 7 42924744T> C null Q R 102 102 missense 0.003 benign 0.37 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1306897229 7p14.1 7 42924738G> T null P H 104 104 missense 0.031 benign 0.2 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1352216696 7p14.1 7 42924739G> T null P T 104 104 missense 0.015 benign 0.53 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs757758580 7p14.1 7 42924732G> C null P R 106 106 missense 0.885 possibly damaging 0.03 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs747406381 7p14.1 7 42924715G> C null Q E 112 112 missense 0.018 benign 0.04 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs778355024 7p14.1 7 42924703A> C null S A 116 116 missense 0.0 benign 0.62 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs754395581 7p14.1 7 42924694G> A null Q * 119 119 stop gained 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs753417947 7p14.1 7 42924690T> G null E A 120 120 missense 0.062 benign 0.06 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1232321625 7p14.1 7 42924678G> A null S L 124 124 missense 0.559 possibly damaging 0.04 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ESP,ExAC,TOPMed,gnomAD rs369475667 7p14.1 7 42923353C> T null R Q 143 143 missense 0.021 benign 0.36 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1307995394 7p14.1 7 42921899C> T null M I 163 163 missense 0.033 benign 1.0 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1380278255 7p14.1 7 42921894T> C null K R 165 165 missense 0.166 benign 0.08 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed rs1342232218 7p14.1 7 42921889A> G null Y H 167 167 missense 0.007 benign 0.52 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ESP,ExAC,TOPMed,gnomAD rs371848172 7p14.1 7 42921886C> T null V M 168 168 missense 0.187 benign 0.12 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type Ensembl rs780028037 7p14.1 7 42921870A> G null F S 173 173 missense 0.412 benign 0.02 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs767865796 7p14.1 7 42917835T> G null R S 177 177 missense 0.962 probably damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1342659642 7p14.1 7 42917833T> C null Y C 178 178 missense 0.996 probably damaging 0.01 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs774800823 7p14.1 7 42917831T> G null N H 179 179 missense 0.038 benign 0.13 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type Ensembl rs1562699552 7p14.1 7 42917830T> C null N S 179 179 missense 0.003 benign 0.56 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1337758770 7p14.1 7 42917828C> T null E K 180 180 missense 0.005 benign 0.08 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs531260552 7p14.1 7 42917823A> T null D E 181 181 missense 0.0 benign 0.23 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type Ensembl rs887011513 7p14.1 7 42917816G> C null L V 184 184 missense 0.487 possibly damaging 0.05 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs766500954 7p14.1 7 42917797G> A null T I 190 190 missense 0.971 probably damaging 0.33 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs749845962 7p14.1 7 42917792T> C null I V 192 192 missense 0.322 benign 0.04 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1448563630 7p14.1 7 42917657T> C null I V 208 208 missense 0.031 benign 0.36 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1246001208 7p14.1 7 42917650A> C null V G 210 210 missense 0.976 probably damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,gnomAD rs771816510 7p14.1 7 42917645T> C null I V 212 212 missense 0.007 benign 0.74 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1335738344 7p14.1 7 42917638T> C null N S 214 214 missense 0.0 benign 0.63 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed,gnomAD rs1226745466 7p14.1 7 42917615T> C null T A 222 222 missense 0.0 benign 0.12 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type 1000Genomes,ExAC,gnomAD rs201992093 7p14.1 7 42917611G> A null P L 223 223 2.0E-4 missense 0.308 benign 0.02 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs778836202 7p14.1 7 42917609T> C null T A 224 224 missense 0.0 benign 0.63 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ESP,ExAC,TOPMed,gnomAD rs368515158 7p14.1 7 42917608G> A null T I 224 224 missense 0.027 benign 0.05 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type TOPMed rs1193815348 7p14.1 7 42917597C> G null D H 228 228 missense 0.933 probably damaging 0.0 deleterious 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1363419253 7p14.1 7 42917588C> G null A P 231 231 missense 0.015 benign 0.11 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type ExAC,TOPMed,gnomAD rs749182263 7p14.1 7 42917585C> A null A S 232 232 missense 0.001 benign 0.69 tolerated 0 A0A024RA52 PSMA2 Proteasome subunit alpha type gnomAD rs1394851381 7p14.1 7 42917580T> C null I M 233 233 missense 0.424 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1206199541 1p36.11 1 23743508C> T null A V 2 2 missense 0.287 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs765016806 1p36.11 1 23743514A> G null E G 4 4 missense 0.005 benign 0.24 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1467563848 1p36.11 1 23743513G> A null E K 4 4 missense 0.063 benign 0.2 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1254095175 1p36.11 1 23743517C> T null S L 5 5 missense 0.946 probably damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1254095175 1p36.11 1 23743517C> G null S W 5 5 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1179942030 1p36.11 1 23743520C> A null A E 6 6 missense 0.111 benign 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1179942030 1p36.11 1 23743520C> T null A V 6 6 missense 0.003 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1363250948 1p36.11 1 23743523T> C null L P 7 7 missense 0.593 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1307538482 1p36.11 1 23743531G> A null V M 10 10 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1161510072 1p36.11 1 23743535A> G null E G 11 11 missense 0.065 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1470571309 1p36.11 1 23743534G> C null E Q 11 11 missense 0.043 benign 0.19 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1459861777 1p36.11 1 23743550G> A null R H 16 16 missense 0.983 probably damaging 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1388104437 1p36.11 1 23743555G> A null A T 18 18 missense 0.432 benign 0.19 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,gnomAD rs192950496 1p36.11 1 23743558G> A null A T 19 19 3.99E-4 missense 0.0 benign 0.73 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs780628476 1p36.11 1 23743561A> G null N D 20 20 missense 0.119 benign 0.47 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1228449974 1p36.11 1 23743565C> T null P L 21 21 missense 0.028 benign 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1233216409 1p36.11 1 23743571C> A null P H 23 23 missense 0.703 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1000278163 1p36.11 1 23743570C> T null P S 23 23 missense 0.589 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1274135545 1p36.11 1 23743573A> G null K E 24 24 missense 0.003 benign 0.18 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1489683508 1p36.11 1 23743575G> C null K N 24 24 missense 0.077 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1400343325 1p36.11 1 23743578G> C null K N 25 25 missense 0.081 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1188803494 1p36.11 1 23749028A> G null K R 28 28 missense 0.038 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs368013601 1p36.11 1 23749030T> A null Y N 29 29 missense 0.04 benign 0.85 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1429931173 1p36.11 1 23749049C> T null T I 35 35 missense 0.0 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs961886546 1p36.11 1 23749075G> A null A T 44 44 missense 0.072 benign 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371583224 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23749076C> T null A V 44 44 missense 0.015 benign 0.59 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs377295472 1p36.11 1 23749843A> C null E A 45 45 missense 0.913 probably damaging 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs150115720 1p36.11 1 23749849G> C null G A 47 47 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs769410391 1p36.11 1 23749851G> A null V I 48 48 missense 0.615 possibly damaging 0.59 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1343600308 1p36.11 1 23749866A> G null N D 53 53 missense 0.996 probably damaging 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1403117935 1p36.11 1 23749870G> C null S T 54 54 missense 0.848 possibly damaging 0.17 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs766084856 1p36.11 1 23749874G> T null L F 55 55 missense 0.058 benign 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1346304198 1p36.11 1 23749884G> A null E K 59 59 missense 0.895 possibly damaging 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1437702791 1p36.11 1 23749896A> T null S C 63 63 missense 0.799 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs753199541 1p36.11 1 23749910C> G null D E 67 67 missense 0.006 benign 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs767844119 1p36.11 1 23749909A> G null D G 67 67 missense 0.033 benign 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143001257 1p36.11 1 23749911C> G null L V 68 68 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs764139105 1p36.11 1 23749917G> A null A T 70 70 missense 0.826 possibly damaging 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs753960598 1p36.11 1 23749924G> C null W S 72 72 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1282858527 1p36.11 1 23749930A> G null K R 74 74 missense 0.985 probably damaging 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs757384328 1p36.11 1 23749935G> A null V I 76 76 missense 0.879 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs746727963 1p36.11 1 23749939C> T null P L 77 77 missense 0.763 possibly damaging 0.37 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1191424078 1p36.11 1 23749942T> C null V A 78 78 missense 0.099 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1487914541 1p36.11 1 23749941G> T null V L 78 78 missense 0.143 benign 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1291632490 1p36.11 1 23749944G> A null E K 79 79 missense 0.096 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1416761957 1p36.11 1 23749948G> A null R Q 80 80 missense 0.009 benign 0.24 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs752568593 1p36.11 1 23750847A> G null N S 81 81 missense 0.006 benign 0.31 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs756065445 1p36.11 1 23750850C> T null A V 82 82 missense 0.0 benign 0.58 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs372609163 1p36.11 1 23750852G> A null E K 83 83 missense 0.036 benign 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC rs770469214 1p36.11 1 23750855C> T null P S 84 84 missense 0.003 benign 0.46 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139033109 1p36.11 1 23750862A> G null E G 86 86 2.0E-4 missense 0.014 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1249768877 1p36.11 1 23750861G> C null E Q 86 86 missense 0.189 benign 0.13 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs745512699 1p36.11 1 23750873G> C null E Q 90 90 missense 0.342 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1414378916 1p36.11 1 23750880G> A null S N 92 92 missense 0.0 benign 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs771664345 1p36.11 1 23750883A> G null N S 93 93 missense 0.0 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs375426032 1p36.11 1 23750886C> T null S F 94 94 missense 0.075 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs144663226 1p36.11 1 23750889G> A null R Q 95 95 missense 0.031 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1291395324 1p36.11 1 23750891A> G null K E 96 96 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,gnomAD rs553800577 1p36.11 1 23750894C> T null R C 97 97 2.0E-4 missense 0.959 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,NCI-TCGA,TOPMed,gnomAD rs566963884 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23750895G> A null R H 97 97 3.99E-4 missense 0.959 probably damaging 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142849555 1p36.11 1 23750898C> A null P H 98 98 0.001398 missense 0.007 benign 0.43 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1291850428 1p36.11 1 23750897C> T null P S 98 98 missense 0.015 benign 0.26 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs140503916 1p36.11 1 23750900C> G null R G 99 99 missense 0.84 possibly damaging 0.26 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,TOPMed,gnomAD rs147846325 1p36.11 1 23750901G> A null R Q 99 99 2.0E-4 missense 0.097 benign 0.18 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs140503916 1p36.11 1 23750900C> T null R W 99 99 missense 0.965 probably damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs752480966 1p36.11 1 23750916A> C null K T 104 104 missense 0.081 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1557453448 1p36.11 1 23750918G> A null E K 105 105 missense 0.058 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1210583009 1p36.11 1 23750934G> A null G E 110 110 missense 0.0 benign 0.24 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs755977406 1p36.11 1 23750933G> C null G R 110 110 missense 0.001 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs755977406 1p36.11 1 23750933G> A null G R 110 110 missense 0.001 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs755977406 1p36.11 1 23750933G> T null G W 110 110 missense 0.41 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,gnomAD rs202235631 1p36.11 1 23750937A> G null D G 111 111 2.0E-4 missense 0.115 benign 0.25 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1250634773 1p36.11 1 23750936G> A null D N 111 111 missense 0.01 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs202188908 1p36.11 1 23750942C> G null Q E 113 113 missense 0.0 benign 0.67 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs866297201 1p36.11 1 23750943A> G null Q R 113 113 missense 0.0 benign 0.88 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1369644409 1p36.11 1 23750948A> G null T A 115 115 missense 0.0 benign 0.74 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2235541 1p36.11 1 23750961C> T null T M 119 119 0.08067 missense 0.266 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A Ensembl rs754422683 1p36.11 1 23750967G> A null S N 121 121 missense 0.054 benign 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs745402534 1p36.11 1 23750970G> A null R Q 122 122 missense 0.001 benign 0.91 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs771665936 1p36.11 1 23750976A> G null Y C 124 124 missense 0.007 benign 0.15 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201208839 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23750979G> A null S N 125 125 3.99E-4 missense 0.837 possibly damaging 0.05 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,TOPMed,gnomAD rs201208839 1p36.11 1 23750979G> C null S T 125 125 3.99E-4 missense 0.836 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP rs369488205 1p36.11 1 23750984G> C null D H 127 127 missense 0.62 possibly damaging 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs974836209 1p36.11 1 23750987C> T null H Y 128 128 missense 0.0 benign 0.2 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,TOPMed,gnomAD rs541981310 1p36.11 1 23750994A> G null Q R 130 130 2.0E-4 missense 0.115 benign 0.4 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs755357772 1p36.11 1 23751004T> A null H Q 133 133 missense 0.025 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs755357772 1p36.11 1 23751004T> G null H Q 133 133 missense 0.025 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs777025164 1p36.11 1 23751003A> G null H R 133 133 missense 0.185 benign 0.32 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs150907189 1p36.11 1 23751007G> T null R S 134 134 missense 0.015 benign 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138140460 1p36.11 1 23751012T> C null L P 136 136 2.0E-4 missense 0.005 benign 0.27 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs913070109 1p36.11 1 23751014T> G null S A 137 137 missense 0.0 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,gnomAD rs572158292 1p36.11 1 23751015C> T null S L 137 137 2.0E-4 missense 0.0 benign 0.21 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs759894591 1p36.11 1 23751018A> G null E G 138 138 missense 0.018 benign 0.27 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1336129610 1p36.11 1 23751021T> C null L P 139 139 missense 0.0 benign 0.24 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1294579762 1p36.11 1 23751024A> G null E G 140 140 missense 0.563 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs147397474 1p36.11 1 23751023G> A null E K 140 140 missense 0.296 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1339874604 1p36.11 1 23751029C> G null P A 142 142 missense 0.003 benign 0.41 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs757180354 1p36.11 1 23751030C> T null P L 142 142 missense 0.039 benign 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1366908946 1p36.11 1 23751033A> G null H R 143 143 missense 0.057 benign 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1230497998 1p36.11 1 23751035A> G null K E 144 144 missense 0.007 benign 0.48 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs201840802 1p36.11 1 23751036A> G null K R 144 144 missense 0.003 benign 0.59 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs749893035 1p36.11 1 23751044C> G null H D 147 147 missense 0.039 benign 0.21 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs749893035 1p36.11 1 23751044C> T null H Y 147 147 missense 0.001 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs758057916 1p36.11 1 23751047G> A null G S 148 148 missense 0.0 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1250296850 1p36.11 1 23751053G> A null E K 150 150 missense 0.115 benign 0.19 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35397069 1p36.11 1 23751064T> G null D E 153 153 0.09724 missense 0.001 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs781577560 1p36.11 1 23751062G> C null D H 153 153 missense 0.348 benign 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1489584592 1p36.11 1 23751067G> C null E D 154 154 missense 0.003 benign 0.19 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs773596568 1p36.11 1 23751071A> G null K E 156 156 missense 0.696 possibly damaging 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs749876218 1p36.11 1 23751072A> G null K R 156 156 missense 0.132 benign 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs771121488 1p36.11 1 23751076G> C null R S 157 157 missense 0.023 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1056891867 1p36.11 1 23751078G> A null C Y 158 158 missense 0.0 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1456699934 1p36.11 1 23751088G> A null M I 161 161 missense 0.0 benign 0.3 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1170988379 1p36.11 1 23751098T> C null Y H 165 165 missense 0.042 benign 0.28 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1391347482 1p36.11 1 23751102C> T null S F 166 166 missense 0.768 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs774622404 1p36.11 1 23751110C> G null P A 169 169 missense 0.023 benign 0.25 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs774622404 1p36.11 1 23751110C> A null P T 169 169 missense 0.046 benign 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1423390147 1p36.11 1 23751114A> G null E G 170 170 missense 0.82 possibly damaging 0.22 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1557453570 1p36.11 1 23751113G> A null E K 170 170 missense 0.734 possibly damaging 0.05 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1384666843 1p36.11 1 23751117C> T null S F 171 171 missense 0.113 benign 0.6 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1390574350 1p36.11 1 23751116T> A null S T 171 171 missense 0.138 benign 0.4 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1162097375 1p36.11 1 23751125T> G null Y D 174 174 missense 0.153 benign 0.85 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1018618294 1p36.11 1 23751126A> T null Y F 174 174 missense 0.335 benign 0.07 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs759802657 1p36.11 1 23751131C> A null H N 176 176 missense 0.236 benign 0.2 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs767884062 1p36.11 1 23751132A> G null H R 176 176 missense 0.138 benign 0.27 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1436733920 1p36.11 1 23751134G> A null V I 177 177 missense 0.237 benign 0.39 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1351443469 1p36.11 1 23751141C> T null S F 179 179 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs776440113 1p36.11 1 23751140T> A null S T 179 179 missense 0.994 probably damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1277333887 1p36.11 1 23751146C> T null P S 181 181 missense 0.118 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1287978239 1p36.11 1 23751150C> A null S Y 182 182 missense 0.459 possibly damaging 0.13 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1557453595 1p36.11 1 23751161C> T null P S 186 186 missense 0.921 probably damaging 0.15 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC rs765159041 1p36.11 1 23751164C> T null H Y 187 187 missense 0.139 benign 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs765839564 1p36.11 1 23751176G> A null V I 191 191 missense 0.0 benign 0.19 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1323628782 1p36.11 1 23751181C> A null D E 192 192 missense 0.997 probably damaging 0.18 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs754572931 1p36.11 1 23751179G> A null D N 192 192 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1557453627 1p36.11 1 23751186A> G null Y C 194 194 missense 0.005 benign 0.05 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1179741313 1p36.11 1 23751198A> G null E G 198 198 missense 0.563 possibly damaging 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1463785555 1p36.11 1 23751205C> A null D E 200 200 missense 0.003 benign 0.83 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1006448404 1p36.11 1 23751204A> G null D G 200 200 missense 0.006 benign 0.72 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1251172620 1p36.11 1 23751207A> G null Q R 201 201 missense 0.0 benign 0.47 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1325018965 1p36.11 1 23751213C> T null P L 203 203 missense 0.444 benign 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs367886141 1p36.11 1 23751216T> C null I T 204 204 missense 0.0 benign 0.43 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,TOPMed,gnomAD rs373345862 1p36.11 1 23751215A> G null I V 204 204 missense 0.0 benign 0.51 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs538159087 1p36.11 1 23751221T> C null S P 206 206 missense 0.0 benign 0.86 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs538159087 1p36.11 1 23751221T> A null S T 206 206 missense 0.031 benign 0.6 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1334447113 1p36.11 1 23751224C> T null H Y 207 207 missense 0.878 possibly damaging 0.13 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1162483199 1p36.11 1 23751228A> G null Q R 208 208 missense 0.0 benign 0.49 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs749790354 1p36.11 1 23751233C> G null P A 210 210 missense 0.001 benign 0.51 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs749790354 1p36.11 1 23751233C> T null P S 210 210 missense 0.009 benign 0.31 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs771606084 1p36.11 1 23751236G> A null G R 211 211 missense 0.74 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1305580445 1p36.11 1 23751248A> G null S G 215 215 missense 0.003 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1349361180 1p36.11 1 23751252A> T null N I 216 216 missense 0.466 possibly damaging 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1410938265 1p36.11 1 23751254G> C null A P 217 217 missense 0.406 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1410938265 1p36.11 1 23751254G> A null A T 217 217 missense 0.003 benign 0.07 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1458567819 1p36.11 1 23751255C> T null A V 217 217 missense 0.006 benign 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs781057487 1p36.11 1 23751262G> C null Q H 219 219 missense 0.888 possibly damaging 0.05 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC rs745969466 1p36.11 1 23751270T> G null L R 222 222 missense 0.307 benign 0.6 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs775582884 1p36.11 1 23751272G> A null G R 223 223 missense 0.046 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs775582884 1p36.11 1 23751272G> C null G R 223 223 missense 0.046 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1266468140 1p36.11 1 23751273G> T null G V 223 223 missense 0.024 benign 0.18 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs764931361 1p36.11 1 23751279G> T null S I 225 225 missense 0.014 benign 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs764931361 1p36.11 1 23751279G> A null S N 225 225 missense 0.005 benign 0.2 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1483440974 1p36.11 1 23751285A> G null E G 227 227 missense 0.115 benign 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs996167623 1p36.11 1 23751288G> A null R Q 228 228 missense 0.009 benign 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs773043646 1p36.11 1 23751291A> G null H R 229 229 missense 0.015 benign 0.28 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1204503628 1p36.11 1 23751290C> T null H Y 229 229 missense 0.091 benign 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs377463691 1p36.11 1 23751293C> G null L V 230 230 missense 0.001 benign 0.48 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs148991333 1p36.11 1 23751302C> T null P S 233 233 missense 0.005 benign 0.25 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,TOPMed rs143816348 1p36.11 1 23751306A> T null H L 234 234 missense 0.0 benign 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1269149754 1p36.11 1 23751309G> A null G E 235 235 missense 0.073 benign 0.15 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,NCI-TCGA,TOPMed,gnomAD rs759049246 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23751314G> A null G R 237 237 missense 0.01 benign 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,TOPMed,gnomAD rs200184587 1p36.11 1 23751318T> C null V A 238 238 2.0E-4 missense 0.0 benign 0.94 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs908539876 1p36.11 1 23751329A> G null N D 242 242 missense 0.015 benign 0.07 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs752277100 1p36.11 1 23751332A> G null K E 243 243 missense 0.197 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1309383161 1p36.11 1 23751333A> G null K R 243 243 missense 0.018 benign 0.15 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1473359352 1p36.11 1 23751342A> G null K R 246 246 missense 0.007 benign 0.15 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs968976553 1p36.11 1 23751344T> C null S P 247 247 missense 0.58 possibly damaging 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs754285866 1p36.11 1 23751347T> C null S P 248 248 missense 0.03 benign 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1297101131 1p36.11 1 23751351A> T null H L 249 249 missense 0.274 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,TOPMed,gnomAD rs147855980 1p36.11 1 23751350C> T null H Y 249 249 2.0E-4 missense 0.007 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs779578955 1p36.11 1 23751353A> G null K E 250 250 missense 0.081 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1207363074 1p36.11 1 23751356G> A null D N 251 251 missense 0.051 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1412576160 1p36.11 1 23751357A> T null D V 251 251 missense 0.092 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1278292799 1p36.11 1 23751360A> G null K R 252 252 missense 0.007 benign 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370908284 1p36.11 1 23751362C> T null R C 253 253 2.0E-4 missense 0.005 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs141832703 1p36.11 1 23751363G> A null R H 253 253 missense 0.001 benign 0.17 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1425307126 1p36.11 1 23751368G> A null V M 255 255 missense 0.006 benign 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1186499584 1p36.11 1 23751372A> G null D G 256 256 missense 0.003 benign 0.53 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1186499584 1p36.11 1 23751372A> T null D V 256 256 missense 0.296 benign 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs772939089 1p36.11 1 23751392G> A null A T 263 263 missense 0.0 benign 0.48 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,gnomAD rs188166129 1p36.11 1 23751393C> T null A V 263 263 2.0E-4 missense 0.014 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs770786578 1p36.11 1 23751396C> T null S F 264 264 missense 0.005 benign 0.24 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs770786578 1p36.11 1 23751396C> A null S Y 264 264 missense 0.125 benign 0.28 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs759575278 1p36.11 1 23751411A> G null E G 269 269 missense 0.879 possibly damaging 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC rs766913564 1p36.11 1 23751416T> C null S P 271 271 missense 0.0 benign 0.22 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1405033049 1p36.11 1 23751419C> T null H Y 272 272 missense 0.36 benign 0.27 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,TOPMed,gnomAD rs552843966 1p36.11 1 23751423A> T null K M 273 273 2.0E-4 missense 0.707 possibly damaging 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,TOPMed,gnomAD rs552843966 1p36.11 1 23751423A> G null K R 273 273 2.0E-4 missense 0.154 benign 0.22 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,NCI-TCGA,gnomAD rs571041050 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23751432C> T null S F 276 276 2.0E-4 missense 0.003 benign 0.2 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs779489267 1p36.11 1 23751436A> C null K N 277 277 missense 0.518 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1311710455 1p36.11 1 23751441A> G null E G 279 279 missense 0.236 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs769760843 1p36.11 1 23751447G> A null R Q 281 281 missense 0.067 benign 0.34 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139059717 1p36.11 1 23751453C> T null P L 283 283 0.001997 missense 0.001 benign 0.17 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs779971063 1p36.11 1 23751455C> T null P S 284 284 missense 0.003 benign 0.61 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1557453791 1p36.11 1 23751458T> G null S A 285 285 missense 0.039 benign 0.35 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs768698137 1p36.11 1 23751461G> A null G R 286 286 missense 0.246 benign 0.25 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs781408627 1p36.11 1 23751464G> A null D N 287 287 missense 0.001 benign 0.2 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1046864856 1p36.11 1 23751465A> T null D V 287 287 missense 0.026 benign 0.05 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35797868 1p36.11 1 23751467A> G null N D 288 288 0.002196 missense 0.0 benign 0.13 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs942220421 1p36.11 1 23751471C> A null A E 289 289 missense 0.036 benign 0.33 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs942220421 1p36.11 1 23751471C> G null A G 289 289 missense 0.024 benign 0.23 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,TOPMed,gnomAD rs142230782 1p36.11 1 23751479A> G null K E 292 292 missense 0.025 benign 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1158817064 1p36.11 1 23751483C> T null P L 293 293 missense 0.0 benign 0.5 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs772069358 1p36.11 1 23751486C> T null P L 294 294 missense 0.001 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1231440598 1p36.11 1 23751488T> C null S P 295 295 missense 0.758 possibly damaging 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1291971534 1p36.11 1 23751495G> T null G V 297 297 missense 0.003 benign 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs520713 1p36.11 1 23751497G> A null V I 298 298 0.008786 missense 0.0 benign 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs520713 1p36.11 1 23751497G> T null V L 298 298 0.008786 missense 0.011 benign 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs520713 1p36.11 1 23751497G> C null V L 298 298 0.008786 missense 0.011 benign 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs763779657 1p36.11 1 23751502G> C null K N 299 299 missense 0.235 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138349044 1p36.11 1 23751504A> G null K R 300 300 0.002796 missense 0.0 benign 0.19 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1329636811 1p36.11 1 23751513A> G null D G 303 303 missense 0.034 benign 0.63 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,TOPMed,gnomAD rs180904912 1p36.11 1 23751512G> A null D N 303 303 2.0E-4 missense 0.001 benign 0.7 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,gnomAD rs572549516 1p36.11 1 23751524A> T null S C 307 307 2.0E-4 missense 0.533 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1205268147 1p36.11 1 23751525G> A null S N 307 307 missense 0.003 benign 0.15 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs758795316 1p36.11 1 23751528G> C null S T 308 308 missense 0.0 benign 0.35 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs766917209 1p36.11 1 23751537A> G null K R 311 311 missense 0.018 benign 0.15 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1270417320 1p36.11 1 23751539A> T null K * 312 312 stop gained 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1471869512 1p36.11 1 23751540A> G null K R 312 312 missense 0.021 benign 0.13 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs751539795 1p36.11 1 23751546T> G null L W 314 314 missense 0.533 possibly damaging 0.24 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs755074280 1p36.11 1 23751549C> T null P L 315 315 missense 0.164 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs781318446 1p36.11 1 23751552C> T null P L 316 316 missense 0.0 benign 0.48 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs781318446 1p36.11 1 23751552C> G null P R 316 316 missense 0.0 benign 0.52 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1413303815 1p36.11 1 23751560G> T null A S 319 319 missense 0.003 benign 0.82 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1391976746 1p36.11 1 23751570A> T null D V 322 322 missense 0.005 benign 0.18 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs778630286 1p36.11 1 23751572A> G null N D 323 323 missense 0.001 benign 0.21 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs775509037 1p36.11 1 23751588C> G null P R 328 328 missense 0.0 benign 0.28 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1351081941 1p36.11 1 23751592G> C null K N 329 329 missense 0.975 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs746975181 1p36.11 1 23751593C> G null H D 330 330 missense 0.039 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs768274378 1p36.11 1 23751595C> G null H Q 330 330 missense 0.1 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs746975181 1p36.11 1 23751593C> T null H Y 330 330 missense 0.0 benign 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1168575971 1p36.11 1 23751597G> A null R K 331 331 missense 0.0 benign 0.89 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1013205940 1p36.11 1 23751600A> T null D V 332 332 missense 0.031 benign 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1320670665 1p36.11 1 23751599G> T null D Y 332 332 missense 0.594 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1221881139 1p36.11 1 23751612C> T null A V 336 336 missense 0.01 benign 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs776317943 1p36.11 1 23751616A> C null K N 337 337 missense 0.299 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1481768868 1p36.11 1 23751615A> G null K R 337 337 missense 0.01 benign 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1022737213 1p36.11 1 23751618T> C null L S 338 338 missense 0.0 benign 0.82 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs765000150 1p36.11 1 23751623A> G null K E 340 340 missense 0.061 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC rs773386316 1p36.11 1 23751631G> C null K N 342 342 missense 0.018 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1424562720 1p36.11 1 23751639T> A null L Q 345 345 missense 0.365 benign 0.15 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1295968960 1p36.11 1 23751642A> G null D G 346 346 missense 0.009 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs766714303 1p36.11 1 23751644A> G null S G 347 347 missense 0.0 benign 0.53 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs752105529 1p36.11 1 23751646C> G null S R 347 347 missense 0.0 benign 0.56 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1308774412 1p36.11 1 23751654C> T null T I 350 350 missense 0.0 benign 0.22 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs771661610 1p36.11 1 23751657G> C null G A 351 351 missense 0.138 benign 0.36 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs767563828 1p36.11 1 23751666C> G null A G 354 354 missense 0.0 benign 0.37 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs767563828 1p36.11 1 23751666C> T null A V 354 354 missense 0.026 benign 0.22 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs752796990 1p36.11 1 23751673C> A null D E 356 356 missense 0.005 benign 0.25 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC rs182428129 1p36.11 1 23751679G> C null L F 358 358 missense 0.1 benign 0.7 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1286837907 1p36.11 1 23751678T> C null L S 358 358 missense 0.0 benign 0.45 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs778060736 1p36.11 1 23751689A> G null K E 362 362 missense 0.194 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1034270702 1p36.11 1 23751692G> A null E K 363 363 missense 0.02 benign 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1015611125 1p36.11 1 23751699G> A null G D 365 365 missense 0.05 benign 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs958648529 1p36.11 1 23751704A> G null N D 367 367 missense 0.001 benign 0.18 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs961675769 1p36.11 1 23751706C> A null N K 367 367 missense 0.01 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs745590102 1p36.11 1 23751709C> A null N K 368 368 missense 0.037 benign 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1274743254 1p36.11 1 23751711T> G null L R 369 369 missense 0.621 possibly damaging 0.6 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1249744423 1p36.11 1 23751717C> T null T I 371 371 missense 0.01 benign 0.19 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs779777006 1p36.11 1 23751725G> A null G R 374 374 missense 0.039 benign 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1237220619 1p36.11 1 23751731G> C null V L 376 376 missense 0.0 benign 0.51 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34394004 1p36.11 1 23751744T> C null L S 380 380 0.05571 missense 0.0 benign 0.84 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1185858700 1p36.11 1 23751750G> C null R T 382 382 missense 0.107 benign 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs768760084 1p36.11 1 23751753A> T null K M 383 383 missense 0.819 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1449164817 1p36.11 1 23751756C> T null S L 384 384 missense 0.058 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs776228044 1p36.11 1 23751762G> A null G D 386 386 missense 0.003 benign 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1421756519 1p36.11 1 23751765C> G null S C 387 387 missense 0.43 benign 0.18 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs916945138 1p36.11 1 23751768T> G null L R 388 388 missense 0.143 benign 0.45 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs772897393 1p36.11 1 23751780A> G null E G 392 392 missense 0.0 benign 0.18 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs772897393 1p36.11 1 23751780A> T null E V 392 392 missense 0.058 benign 0.07 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs747670548 1p36.11 1 23751788G> C null D H 395 395 missense 0.707 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1456982219 1p36.11 1 23751793G> A null M I 396 396 missense 0.006 benign 0.2 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs769516563 1p36.11 1 23751792T> C null M T 396 396 missense 0.0 benign 0.56 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1318954483 1p36.11 1 23751795A> C null E A 397 397 missense 0.322 benign 0.41 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs772908388 1p36.11 1 23751794G> C null E Q 397 397 missense 0.517 possibly damaging 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs762581720 1p36.11 1 23751801A> T null E V 399 399 missense 0.018 benign 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs932914726 1p36.11 1 23751806G> A null E K 401 401 missense 0.722 possibly damaging 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs774629892 1p36.11 1 23751815A> G null T A 404 404 missense 0.041 benign 0.05 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1246379794 1p36.11 1 23751816C> T null T I 404 404 missense 0.184 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1265608309 1p36.11 1 23751834A> G null Y C 410 410 missense 0.707 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1464565690 1p36.11 1 23751840G> C null S T 412 412 missense 0.159 benign 0.26 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1189479515 1p36.11 1 23751852C> A null P H 416 416 missense 0.123 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs760757694 1p36.11 1 23751855G> A null R Q 417 417 missense 0.003 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1206511315 1p36.11 1 23751854C> T null R W 417 417 missense 0.723 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1477069180 1p36.11 1 23751857A> G null K E 418 418 missense 0.612 possibly damaging 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs764136735 1p36.11 1 23751859G> C null K N 418 418 missense 0.843 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs754084407 1p36.11 1 23751865G> C null K N 420 420 missense 0.941 probably damaging 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1168048760 1p36.11 1 23751874T> G null I M 423 423 missense 0.01 benign 0.05 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1199763219 1p36.11 1 23751875G> C null V L 424 424 missense 0.03 benign 0.31 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141899107 1p36.11 1 23751882C> T null T I 426 426 9.98E-4 missense 0.012 benign 0.15 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1422069532 1p36.11 1 23751885C> T null S L 427 427 missense 0.086 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1178255672 1p36.11 1 23751884T> C null S P 427 427 missense 0.003 benign 0.21 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1386216347 1p36.11 1 23751890A> G null T A 429 429 missense 0.0 benign 0.49 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,NCI-TCGA,TOPMed,gnomAD rs377449904 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23751891C> T null T M 429 429 missense 0.288 benign 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139569946 1p36.11 1 23751893G> C null A P 430 430 2.0E-4 missense 0.143 benign 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs781296844 1p36.11 1 23751899G> A null G R 432 432 missense 0.01 benign 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1356531687 1p36.11 1 23751905A> G null K E 434 434 missense 0.994 probably damaging 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186209653 1p36.11 1 23751909G> A null G E 435 435 3.99E-4 missense 0.015 benign 0.25 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1368835472 1p36.11 1 23751908G> A null G R 435 435 missense 0.012 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1328874577 1p36.11 1 23751921A> T null N I 439 439 missense 0.166 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1397202700 1p36.11 1 23751922T> G null N K 439 439 missense 0.003 benign 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1293667242 1p36.11 1 23751927C> G null S C 441 441 missense 0.819 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,TOPMed,gnomAD rs559076647 1p36.11 1 23751935A> G null T A 444 444 2.0E-4 missense 0.005 benign 0.28 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,TOPMed,gnomAD rs559076647 1p36.11 1 23751935A> C null T P 444 444 2.0E-4 missense 0.36 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1198172875 1p36.11 1 23751941A> G null K E 446 446 missense 0.091 benign 0.4 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs374542397 1p36.11 1 23751947T> G null L V 448 448 missense 0.005 benign 0.51 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1480697088 1p36.11 1 23751950G> C null D H 449 449 missense 0.46 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1480697088 1p36.11 1 23751950G> A null D N 449 449 missense 0.003 benign 0.17 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs759897584 1p36.11 1 23751963A> T null K I 453 453 missense 0.819 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1456485290 1p36.11 1 23751968C> T null P S 455 455 missense 0.03 benign 0.22 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs146285087 1p36.11 1 23751975T> G null V G 457 457 missense 0.0 benign 0.33 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs776893448 1p36.11 1 23751978A> G null N S 458 458 missense 0.006 benign 0.25 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1557454101 1p36.11 1 23751981A> G null K R 459 459 missense 0.015 benign 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs762042195 1p36.11 1 23751989T> G null S A 462 462 missense 0.0 benign 0.25 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1010162290 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23751999C> T null P L 465 465 missense 0.0 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs751346244 1p36.11 1 23752002C> A null A D 466 466 missense 0.036 benign 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs961475153 1p36.11 1 23752017C> T null A V 471 471 missense 0.188 benign 0.13 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs974518460 1p36.11 1 23752026G> A null R K 474 474 missense 0.0 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs776729655 1p36.11 1 23752410C> T null P S 477 477 missense 0.022 benign 0.38 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs776729655 1p36.11 1 23752410C> A null P T 477 477 missense 0.122 benign 0.52 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1027454754 1p36.11 1 23752413G> A null D N 478 478 missense 0.028 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs954089709 1p36.11 1 23752416G> A null V M 479 479 missense 0.417 benign 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs374698928 1p36.11 1 23752425G> C null V L 482 482 missense 0.039 benign 0.36 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs758695109 1p36.11 1 23752437C> G null L V 486 486 missense 0.01 benign 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1243223088 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23752440C> T null P S 487 487 missense 0.945 probably damaging 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs550252 1p36.11 1 23752450C> G null A G 490 490 0.008786 missense 0.041 benign 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs767400952 1p36.11 1 23752449G> A null A T 490 490 missense 0.0 benign 0.41 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs550252 1p36.11 1 23752450C> T null A V 490 490 0.008786 missense 0.0 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1166113029 1p36.11 1 23752452A> G null I V 491 491 missense 0.556 possibly damaging 0.25 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1462912086 1p36.11 1 23752461A> G null N D 494 494 missense 0.761 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs368805803 1p36.11 1 23752462A> G null N S 494 494 missense 0.219 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs756708761 1p36.11 1 23752467C> T null R C 496 496 missense 0.987 probably damaging 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs372130750 1p36.11 1 23752468G> A null R H 496 496 missense 0.972 probably damaging 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1557454313 1p36.11 1 23752482C> A null L I 501 501 missense 0.001 benign 0.28 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs374904031 1p36.11 1 23752494T> G null S A 505 505 missense 0.0 benign 0.19 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs374904031 1p36.11 1 23752494T> C null S P 505 505 missense 0.0 benign 0.37 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs914269592 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1p36.11 1 23752512C> T null R * 511 511 stop gained 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs914269592 1p36.11 1 23752512C> G null R G 511 511 missense 0.956 probably damaging 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs775358723 1p36.11 1 23754100C> T null A V 513 513 missense 0.081 benign 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1325383931 1p36.11 1 23754105T> C null S P 515 515 missense 0.294 benign 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,gnomAD rs553236953 1p36.11 1 23754111C> A null P T 517 517 2.0E-4 missense 0.154 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1211905345 1p36.11 1 23754116G> C null Q H 518 518 missense 0.0 benign 0.46 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs753715107 1p36.11 1 23754115A> G null Q R 518 518 missense 0.035 benign 0.41 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144826294 1p36.11 1 23754127A> C null E A 522 522 5.99E-4 missense 0.541 possibly damaging 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1187690495 1p36.11 1 23754130C> G null A G 523 523 missense 0.011 benign 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1264666946 1p36.11 1 23754139C> T null T I 526 526 missense 0.227 benign 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs764702892 1p36.11 1 23754144C> T null R C 528 528 missense 0.987 probably damaging 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,NCI-TCGA,TOPMed,gnomAD rs749954868 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23754145G> A null R H 528 528 missense 0.972 probably damaging 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1158979769 1p36.11 1 23754157C> G null S C 532 532 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1389463621 1p36.11 1 23754184A> G null K R 541 541 missense 0.996 probably damaging 0.19 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs368056391 1p36.11 1 23754193A> G null Y C 544 544 missense 0.994 probably damaging 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC rs781653623 1p36.11 1 23754192T> C null Y H 544 544 missense 0.994 probably damaging 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1003147141 1p36.11 1 23754199C> G null P R 546 546 missense 0.999 probably damaging 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1283826412 1p36.11 1 23754202A> C null K T 547 547 missense 0.784 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1016234266 1p36.11 1 23754204A> T null M L 548 548 missense 0.97 probably damaging 0.17 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1347385520 1p36.11 1 23754207A> T null M L 549 549 missense 0.97 probably damaging 0.21 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs915291244 1p36.11 1 23754216C> A null H N 552 552 missense 0.107 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs371521263 1p36.11 1 23754224A> T null Q H 554 554 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed rs771219804 1p36.11 1 23754232G> T null R L 557 557 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed rs771219804 1p36.11 1 23754232G> A null R Q 557 557 missense 0.998 probably damaging 0.21 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs774422576 1p36.11 1 23754235T> C null V A 558 558 missense 0.659 possibly damaging 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1490034391 1p36.11 1 23754246A> G null N D 562 562 missense 0.996 probably damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A Ensembl rs878971041 1p36.11 1 23754247A> G null N S 562 562 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs374783663 1p36.11 1 23754249A> G null I V 563 563 missense 0.987 probably damaging 0.25 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs148243938 1p36.11 1 23754253A> G null D G 564 564 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201928604 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23754252G> A null D N 564 564 3.99E-4 missense 0.999 probably damaging 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs761598210 1p36.11 1 23754365A> G null I V 566 566 missense 0.997 probably damaging 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1220904128 1p36.11 1 23754370T> G null F L 567 567 missense 0.136 benign 0.35 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1424022789 1p36.11 1 23754377G> C null G R 570 570 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs146265686 1p36.11 1 23754383G> A null V I 572 572 missense 0.998 probably damaging 0.17 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1169614777 1p36.11 1 23754386C> A null P T 573 573 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs762922358 1p36.11 1 23754392T> C null S P 575 575 missense 0.977 probably damaging 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs765787938 1p36.11 1 23754395G> C null V L 576 576 missense 0.017 benign 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,gnomAD rs375991958 1p36.11 1 23754407G> A null V I 580 580 missense 0.9 possibly damaging 0.21 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,gnomAD rs375991958 1p36.11 1 23754407G> C null V L 580 580 missense 0.919 probably damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs752949233 1p36.11 1 23754414A> T null E V 582 582 missense 0.911 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs778349721 1p36.11 1 23754418G> T null R S 583 583 missense 0.947 probably damaging 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs767212367 1p36.11 1 23754420G> A null C Y 584 584 missense 1.0 probably damaging 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1557455021 1p36.11 1 23754425C> G null P A 586 586 missense 1.0 probably damaging 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1213533133 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23754441G> A null R H 591 591 missense 0.978 probably damaging 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1274310611 1p36.11 1 23754460T> A null H Q 597 597 missense 0.285 benign 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142679874 1p36.11 1 23755844T> C null V A 598 598 0.001597 missense 0.699 possibly damaging 0.33 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1243939445 1p36.11 1 23755849A> G null I V 600 600 missense 0.038 benign 0.51 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs369258695 1p36.11 1 23755862A> G null D G 604 604 missense 0.784 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1197150964 1p36.11 1 23755861G> A null D N 604 604 missense 0.993 probably damaging 0.07 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,NCI-TCGA,gnomAD rs747213303 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23755889G> A null R Q 613 613 missense 0.958 probably damaging 0.3 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs777508868 1p36.11 1 23755893C> G null D E 614 614 missense 0.913 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs755217650 1p36.11 1 23755891G> T null D Y 614 614 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs749089364 1p36.11 1 23755900G> A null E K 617 617 missense 0.012 benign 0.67 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs770717588 1p36.11 1 23755905A> C null E D 618 618 missense 0.287 benign 0.05 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1433731608 1p36.11 1 23755904A> G null E G 618 618 missense 0.927 probably damaging 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1346489606 1p36.11 1 23755903G> C null E Q 618 618 missense 0.977 probably damaging 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1346761487 1p36.11 1 23755906A> G null R G 619 619 missense 0.138 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs896340303 1p36.11 1 23755910C> T null P L 620 620 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78642828 1p36.11 1 23755912G> T null E * 621 621 9.98E-4 stop gained 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78642828 1p36.11 1 23755912G> A null E K 621 621 9.98E-4 missense 0.906 possibly damaging 0.25 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC rs775188358 1p36.11 1 23755919A> C null Y S 623 623 missense 0.93 probably damaging 0.21 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373604867 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23755925C> T null S L 625 625 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1449914568 1p36.11 1 23755936A> C null M L 629 629 missense 0.054 benign 0.44 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1490493510 1p36.11 1 23755957G> A null A T 636 636 missense 0.987 probably damaging 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1280412433 1p36.11 1 23755960C> G null R G 637 637 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs750934214 1p36.11 1 23755961G> C null R P 637 637 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs750934214 1p36.11 1 23755961G> A null R Q 637 637 missense 0.999 probably damaging 0.07 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1236300767 1p36.11 1 23755968G> T null Q H 639 639 missense 0.979 probably damaging 0.05 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1158758844 1p36.11 1 23755975C> G null R G 642 642 missense 0.392 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202158596 1p36.11 1 23755976G> A null R Q 642 642 2.0E-4 missense 0.022 benign 0.22 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1289997844 1p36.11 1 23755984A> G null T A 645 645 missense 0.55 possibly damaging 0.11 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs781406601 1p36.11 1 23755991A> G null N S 647 647 missense 0.481 possibly damaging 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs757072300 1p36.11 1 23756005C> T null H Y 652 652 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1225403142 1p36.11 1 23756276C> T null R * 659 659 stop gained 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1333346847 1p36.11 1 23756280A> G null Q R 660 660 missense 0.025 benign 0.23 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1249533460 1p36.11 1 23756290G> A null M I 663 663 missense 0.995 probably damaging 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs759599132 1p36.11 1 23756300A> C null N H 667 667 missense 0.105 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1459662789 1p36.11 1 23756301A> G null N S 667 667 missense 0.657 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1243426490 1p36.11 1 23756303T> C null S P 668 668 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A Ensembl rs1557455733 1p36.11 1 23756307T> C null V A 669 669 missense 0.079 benign 0.32 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs996144598 1p36.11 1 23756322G> A null R H 674 674 missense 0.998 probably damaging 0.17 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs767651611 1p36.11 1 23756326C> A null D E 675 675 missense 0.999 probably damaging 0.07 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs756341375 1p36.11 1 23756327G> A null V I 676 676 missense 0.992 probably damaging 0.09 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs750214479 1p36.11 1 23756331G> A null R Q 677 677 missense 0.998 probably damaging 0.1 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs778719155 1p36.11 1 23756330C> T null R W 677 677 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs758288703 1p36.11 1 23756334G> A null R K 678 678 missense 0.991 probably damaging 0.07 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1206084297 1p36.11 1 23756336A> T null R W 679 679 missense 0.999 probably damaging 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1056789313 1p36.11 1 23756346A> G null K R 682 682 missense 0.996 probably damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A Ensembl rs866242648 1p36.11 1 23756351G> T null G * 684 684 stop gained 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1337614930 1p36.11 1 23756352G> A null G E 684 684 missense 0.984 probably damaging 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs780150340 1p36.11 1 23756355C> T null T M 685 685 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1294951220 1p36.11 1 23756358G> A null G E 686 686 missense 0.87 possibly damaging 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141826083 1p36.11 1 23756363G> A null A T 688 688 9.98E-4 missense 0.127 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1048747252 1p36.11 1 23756367C> G null A G 689 689 missense 0.478 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1048747252 1p36.11 1 23756367C> T null A V 689 689 missense 0.031 benign 0.23 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs369945975 1p36.11 1 23756370T> C null V A 690 690 missense 0.146 benign 0.03 deleterious 0 A0A024RAC6 ELOA Elongin-A Ensembl rs868776775 1p36.11 1 23756369G> A null V I 690 690 missense 0.294 benign 0.45 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1381780156 1p36.11 1 23756373C> G null P R 691 691 missense 0.08 benign 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs747791183 1p36.11 1 23756380A> T null K N 693 693 missense 0.327 benign 0.23 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs769364849 1p36.11 1 23756383C> G null I M 694 694 missense 0.293 benign 0.06 tolerated 0 A0A024RAC6 ELOA Elongin-A Ensembl rs932039687 1p36.11 1 23756956C> G null I M 696 696 missense 0.781 possibly damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs766340008 1p36.11 1 23756967C> T null P L 700 700 missense 0.001 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs755012172 1p36.11 1 23756970A> C null Y S 701 701 missense 0.371 benign 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs780717368 1p36.11 1 23756972C> T null P S 702 702 missense 0.0 benign 0.16 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs770094801 1p36.11 1 23756976T> G null M R 703 703 missense 0.0 benign 0.26 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs770094801 1p36.11 1 23756976T> C null M T 703 703 missense 0.0 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147665180 1p36.11 1 23756981A> G null S G 705 705 7.99E-4 missense 0.079 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs749036861 1p36.11 1 23756982G> C null S T 705 705 missense 0.115 benign 0.17 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs771254929 1p36.11 1 23756985G> A null S N 706 706 missense 0.922 probably damaging 0.0 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1158618455 1p36.11 1 23756986C> G null S R 706 706 missense 0.197 benign 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,TOPMed,gnomAD rs150218376 1p36.11 1 23756988A> G null H R 707 707 missense 0.0 benign 0.07 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs746326810 1p36.11 1 23756990G> T null A S 708 708 missense 0.04 benign 0.6 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1042371389 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23756991C> T null A V 708 708 missense 0.001 benign 0.35 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs772597008 1p36.11 1 23756994C> G null S C 709 709 missense 0.237 benign 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1305842313 1p36.11 1 23756997C> A null A D 710 710 missense 0.025 benign 0.39 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1389513511 1p36.11 1 23756996G> T null A S 710 710 missense 0.001 benign 1.0 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1389513511 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23756996G> A null A T 710 710 missense 0.017 benign 0.6 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs200959151 1p36.11 1 23756999A> C null S R 711 711 missense 0.172 benign 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs150739752 1p36.11 1 23757005A> G null I V 713 713 missense 0.0 benign 0.17 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,TOPMed,gnomAD rs200480343 1p36.11 1 23757009G> A null S N 714 714 2.0E-4 missense 0.003 benign 0.12 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs751434272 1p36.11 1 23757010C> G null S R 714 714 missense 0.298 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1468751954 1p36.11 1 23757031G> T null E D 721 721 missense 0.185 benign 0.17 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs752741432 1p36.11 1 23757033C> T null P L 722 722 missense 0.0 benign 0.29 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs752741432 1p36.11 1 23757033C> A null P Q 722 722 missense 0.003 benign 0.87 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1179201926 1p36.11 1 23757032C> T null P S 722 722 missense 0.001 benign 0.47 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,TOPMed,gnomAD rs748918684 1p36.11 1 23757039A> G null Y C 724 724 missense 0.077 benign 0.15 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed rs1470618593 1p36.11 1 23757054C> T null T I 729 729 missense 0.333 benign 0.08 tolerated 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1170393872 1p36.11 1 23757069T> A null L * 734 734 stop gained 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1373602842 1p36.11 1 23757070G> T null L F 734 734 missense 0.001 benign 0.48 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs367979370 1p36.11 1 23757072C> A null A E 735 735 missense 0.282 benign 0.05 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,NCI-TCGA,TOPMed,gnomAD rs756926181 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.11 1 23757071G> A null A T 735 735 missense 0.007 benign 0.4 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs367979370 1p36.11 1 23757072C> T null A V 735 735 missense 0.003 benign 0.28 tolerated 0 A0A024RAC6 ELOA Elongin-A ExAC,gnomAD rs749441062 1p36.11 1 23757074C> G null P A 736 736 missense 0.35 benign 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A TOPMed,gnomAD rs1448563240 1p36.11 1 23757081T> G null V G 738 738 missense 0.001 benign 0.19 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1381364235 1p36.11 1 23757085C> A null S R 739 739 missense 0.758 possibly damaging 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1413684005 1p36.11 1 23757092G> C null V L 742 742 missense 0.015 benign 0.58 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,gnomAD rs201983548 1p36.11 1 23757095T> G null S A 743 743 2.0E-4 missense 0.098 benign 0.02 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1292638948 1p36.11 1 23757096C> G null S C 743 743 missense 0.012 benign 0.04 deleterious 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ExAC,gnomAD rs201983548 1p36.11 1 23757095T> C null S P 743 743 2.0E-4 missense 0.694 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,TOPMed,gnomAD rs140089365 1p36.11 1 23757099A> G null Y C 744 744 missense 0.003 benign 0.14 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1252277043 1p36.11 1 23757116A> T null T S 750 750 missense 0.015 benign 0.32 tolerated 0 A0A024RAC6 ELOA Elongin-A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145432831 1p36.11 1 23757119G> C null V L 751 751 2.0E-4 missense 0.836 possibly damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1262750914 1p36.11 1 23759514A> G null I V 754 754 missense 0.232 benign 0.38 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,gnomAD rs377120804 1p36.11 1 23759523A> T null M L 757 757 missense 0.97 probably damaging 0.39 tolerated 0 A0A024RAC6 ELOA Elongin-A ESP,ExAC,gnomAD rs377120804 1p36.11 1 23759523A> G null M V 757 757 missense 0.97 probably damaging 0.01 deleterious 0 A0A024RAC6 ELOA Elongin-A Ensembl rs895456074 1p36.11 1 23759545C> G null A G 764 764 missense 0.994 probably damaging 0.84 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs564201870 1p36.11 1 23759544G> A null A T 764 764 missense 0.996 probably damaging 0.29 tolerated 0 A0A024RAC6 ELOA Elongin-A gnomAD rs1185830051 1p36.11 1 23759554A> C null N T 767 767 missense 0.996 probably damaging 0.03 deleterious 0 A0A024RBG1 NUDT4B Diphosphoinositol polyphosphate phosphohydrolase NUDT4B Ensembl rs1558397755 1q21.2 1 148748996A> G null E G 15 15 missense 0.462 possibly damaging 0.03 deleterious 0 A0A024RBG1 NUDT4B Diphosphoinositol polyphosphate phosphohydrolase NUDT4B Ensembl rs112714472 1q21.2 1 148749091A> T null I F 47 47 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RBG1 NUDT4B Diphosphoinositol polyphosphate phosphohydrolase NUDT4B Ensembl rs1558397759 1q21.2 1 148749133G> A null G S 61 61 missense 0.206 benign 0.81 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1273774512 12q24.31 12 122218352C> T null A T 4 4 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1422200315 12q24.31 12 122218348A> G null V A 5 5 missense 0.398 benign 0.67 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ESP,TOPMed,gnomAD rs147316018 12q24.31 12 122218341C> G null L F 7 7 missense 0.864 possibly damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs962688195 12q24.31 12 122218342A> G null L S 7 7 missense 0.951 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs763349592 12q24.31 12 122218337T> C null T A 9 9 missense 0.242 benign 0.07 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs758000427 12q24.31 12 122218336G> A null T I 9 9 missense 0.989 probably damaging 0.05 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370060703 [NCI-TCGA]: Variant assessed as Somatic; impact. 12q24.31 12 122225987G> A null R C 10 10 missense 2.0 unknown 0.932 probably damaging 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs773828186 12q24.31 12 122218332A> T null D E 10 10 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1015881528 12q24.31 12 122218333T> C null D G 10 10 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1228853282 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122225986C> T null R H 10 10 missense 0.932 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1015881528 12q24.31 12 122218333T> A null D V 10 10 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs752158530 12q24.31 12 122218327G> A null T I 12 12 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs752158530 12q24.31 12 122218327G> C null T S 12 12 missense 0.487 possibly damaging 0.71 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs764802910 12q24.31 12 122218324G> C null S C 13 13 missense 0.974 probably damaging 0.18 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs761129000 12q24.31 12 122218322T> C null T A 14 14 missense 0.511 possibly damaging 0.07 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs774790079 12q24.31 12 122218316G> A null L F 16 16 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs774790079 12q24.31 12 122218316G> T null L I 16 16 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs774790079 12q24.31 12 122218316G> C null L V 16 16 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116496131 12q24.31 12 122218312G> C null S C 17 17 9.98E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs749514412 12q24.31 12 122218313A> G null S P 17 17 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs1312482444 12q24.31 12 122218310G> C null Q E 18 18 missense 0.127 benign 0.05 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs1446212555 12q24.31 12 122218307T> C null T A 19 19 missense 0.995 probably damaging 0.18 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs769884447 12q24.31 12 122218304T> C null T A 20 20 missense 0.995 probably damaging 0.07 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201330335 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122224636T> G null Q P 20 20 2.0E-4 missense 0.653 possibly damaging 0.2 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs745841502 12q24.31 12 122218299A> C null Y * 21 21 stop gained 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial Ensembl,dbSNP rs876657775 12q24.31 12 122218290A> C null I M 24 24 missense 0.183 benign 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs757142709 12q24.31 12 122218285G> C null A G 26 26 missense 0.894 possibly damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1445325321 12q24.31 12 122218283T> C null I V 27 27 missense 0.235 benign 0.09 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,dbSNP,gnomAD rs746807208 12q24.31 12 122218280T> C null T A 28 28 missense 0.982 probably damaging 0.06 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs758040962 12q24.31 12 122218271T> C null T A 31 31 missense 0.995 probably damaging 0.33 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1317215726 12q24.31 12 122216868G> C null A G 33 33 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1409193763 12q24.31 12 122216865A> G null V A 34 34 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs754521964 12q24.31 12 122216863A> C null Y D 35 35 missense 1.0 probably damaging 0.04 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1335500507 12q24.31 12 122216850G> C null S C 39 39 missense 0.999 probably damaging 0.04 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1335500507 12q24.31 12 122216850G> T null S Y 39 39 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1291927404 12q24.31 12 122216848G> A null L F 40 40 missense 1.0 probably damaging 0.09 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC rs757907510 12q24.31 12 122216847A> C null L R 40 40 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147087100 12q24.31 12 122216842G> A null R * 42 42 2.0E-4 stop gained 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,gnomAD rs572542575 12q24.31 12 122216841C> T null R Q 42 42 2.0E-4 missense 0.056 benign 0.35 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1271246337 12q24.31 12 122216839G> C null Q E 43 43 missense 0.171 benign 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1431215087 12q24.31 12 122216835T> C null Y C 44 44 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,dbSNP,gnomAD rs764412748 12q24.31 12 122216836A> G null Y H 44 44 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial Ensembl rs759161752 12q24.31 12 122216825T> A null L F 47 47 missense 1.0 probably damaging 0.05 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ExAC,NCI-TCGA,gnomAD rs200047081 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122224553T> C null I V 48 48 2.0E-4 missense 0.001 benign 1.0 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs763398045 12q24.31 12 122216821C> G null G R 49 49 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs763398045 12q24.31 12 122216821C> T null G R 49 49 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs752963586 12q24.31 12 122216814A> G null M T 51 51 missense 0.007 benign 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1339270201 12q24.31 12 122216815T> C null M V 51 51 missense 0.03 benign 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial Ensembl,dbSNP rs387906893 [ClinVar]: Deafness, autosomal dominant 64, [Ensembl]: Deafness, autosomal dominant 64 (dfna64), [UniProt]: does not increase apoptotic activity compared to wild-type; enhances the degradation of mutant and wild-type protein via heterodimerization; cells expressing the mutant protein show increased susceptibility to calcium-induced loss of mitochondrial potential compared to wild-type, indicating increased sensitivity to mitochondrial stress and suggestive of mitochondrial dysfunction pubmed:21722859 pubmed:21722859 12q24.31 12 122216808G> A null S L 53 53 missense 0.999 probably damaging 0.05 deleterious 0 Deafness, autosomal dominant 64 (DFNA64) MIM:614152 ClinVar:RCV000023402 A0A024RBT2 DIABLO Diablo homolog, mitochondrial Ensembl,dbSNP rs387906893 [ClinVar]: Deafness, autosomal dominant 64, [Ensembl]: Deafness, autosomal dominant 64 (dfna64), [UniProt]: does not increase apoptotic activity compared to wild-type; enhances the degradation of mutant and wild-type protein via heterodimerization; cells expressing the mutant protein show increased susceptibility to calcium-induced loss of mitochondrial potential compared to wild-type, indicating increased sensitivity to mitochondrial stress and suggestive of mitochondrial dysfunction pubmed:21722859 pubmed:21722859 12q24.31 12 122216808G> A null S L 53 53 missense 0.999 probably damaging 0.05 deleterious 0 Deafness, autosomal dominant, 64 (DFNA64) A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. MIM:614152 pubmed:21722859 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ESP,TOPMed rs369759498 12q24.31 12 122216806C> T null E K 54 54 missense 0.007 benign 0.89 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1324628178 12q24.31 12 122216792T> A null E D 58 58 missense 0.005 benign 0.12 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,dbSNP,gnomAD rs759692888 12q24.31 12 122216791C> T null V M 59 59 missense 0.997 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs776746774 12q24.31 12 122216786C> T null W * 60 60 stop gained 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs776746774 12q24.31 12 122216786C> A null W C 60 60 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs770991206 12q24.31 12 122216784T> C null Q R 61 61 missense 0.997 probably damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs760657869 12q24.31 12 122216781A> C null V G 62 62 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs773157999 12q24.31 12 122216778A> T null I N 63 63 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1224656077 12q24.31 12 122216779T> C null I V 63 63 missense 0.076 benign 0.17 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs747983793 12q24.31 12 122216774T> C null I M 64 64 missense 0.825 possibly damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs980422753 12q24.31 12 122216775A> G null I T 64 64 missense 0.931 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs771868678 12q24.31 12 122216776T> C null I V 64 64 missense 0.245 benign 0.24 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs1470436827 12q24.31 12 122216772C> G null G A 65 65 missense 0.999 probably damaging 0.06 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs1470436827 12q24.31 12 122216772C> T null G E 65 65 missense 1.0 probably damaging 0.06 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial Ensembl rs946390746 12q24.31 12 122216773C> T null G R 65 65 missense 1.0 probably damaging 0.05 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs778516044 12q24.31 12 122216770C> T null A T 66 66 missense 1.0 probably damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs768413662 12q24.31 12 122216766C> G null R T 67 67 missense 0.836 possibly damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1423569916 12q24.31 12 122216582C> A null M I 70 70 missense 0.103 benign 0.21 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial Ensembl rs1425869096 12q24.31 12 122216574T> C null K R 73 73 missense 0.192 benign 0.88 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs774270478 12q24.31 12 122216569G> C null Q E 75 75 missense 0.019 benign 0.58 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1274563329 12q24.31 12 122216562T> G null Y S 77 77 missense 0.991 probably damaging 0.23 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1361713467 12q24.31 12 122216559A> C null L W 78 78 missense 0.989 probably damaging 0.04 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ESP,ExAC,TOPMed,gnomAD rs376774043 12q24.31 12 122216551C> A null E * 81 81 stop gained 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs994617815 12q24.31 12 122216537C> T null M I 85 85 missense 0.048 benign 0.33 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs994617815 12q24.31 12 122216537C> A null M I 85 85 missense 0.048 benign 0.33 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ExAC,TOPMed,gnomAD rs199768401 12q24.31 12 122216539T> A null M L 85 85 missense 0.003 benign 0.11 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ExAC,TOPMed,gnomAD rs199768401 12q24.31 12 122216539T> C null M V 85 85 missense 0.078 benign 0.25 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs745376603 12q24.31 12 122216535G> A null T I 86 86 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs780506459 12q24.31 12 122216529A> G null V A 88 88 missense 0.744 possibly damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC rs748596027 12q24.31 12 122216518C> T null E K 92 92 missense 0.999 probably damaging 0.3 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1365705749 12q24.31 12 122216509C> A null A S 95 95 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs779372275 cosmic curated [Cosmic]: large_intestine cosmic_study:376 12q24.31 12 122216508G> A null A V 95 95 missense 1.0 probably damaging 0.02 deleterious 1 A0A024RBT2 DIABLO Diablo homolog, mitochondrial NCI-TCGA,gnomAD rs112610245 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122218297G> A null A V 95 95 missense 0.996 probably damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1366697557 12q24.31 12 122216492T> G null Q H 100 100 missense 0.013 benign 0.07 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial Ensembl rs1056690931 12q24.31 12 122216493T> C null Q R 100 100 missense 0.41 benign 0.14 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs766596915 12q24.31 12 122216490G> A null T I 101 101 missense 0.909 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs766195715 12q24.31 12 122208575C> T null A T 103 103 missense 0.951 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ExAC,gnomAD rs575550434 12q24.31 12 122208572C> T null D N 104 104 5.99E-4 missense 0.954 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1187894368 12q24.31 12 122208569G> C null Q E 105 105 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs973478698 12q24.31 12 122208565G> C null A G 106 106 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs750056920 12q24.31 12 122208566C> A null A S 106 106 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs973478698 12q24.31 12 122208565G> A null A V 106 106 missense 0.998 probably damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs767109973 12q24.31 12 122208562G> C null S C 107 107 missense 1.0 probably damaging 0.04 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs767109973 12q24.31 12 122208562G> A null S F 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ExAC,TOPMed,gnomAD rs191255872 12q24.31 12 122208560T> G null I L 108 108 3.99E-4 missense 0.071 benign 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs760073847 12q24.31 12 122208556G> A null T I 109 109 missense 0.747 possibly damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs760073847 12q24.31 12 122208556G> T null T N 109 109 missense 0.837 possibly damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1399707737 12q24.31 12 122208551T> C null R G 111 111 missense 0.971 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1345795433 12q24.31 12 122208549C> A null R S 111 111 missense 0.971 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ESP,ExAC,TOPMed,gnomAD rs199738234 12q24.31 12 122208548T> C null N D 112 112 missense 0.255 benign 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1297175168 12q24.31 12 122208544T> A null H L 113 113 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial Ensembl rs865798313 12q24.31 12 122208541A> G null I T 114 114 missense 0.911 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1432587092 12q24.31 12 122208542T> C null I V 114 114 missense 0.034 benign 0.1 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs747280328 12q24.31 12 122208537C> A null Q H 115 115 missense 0.04 benign 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1465537999 12q24.31 12 122208530T> A null K * 118 118 stop gained 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs772377484 12q24.31 12 122208521C> T null V M 121 121 missense 0.986 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs867016501 12q24.31 12 122208513C> A null E D 123 123 missense 0.653 possibly damaging 0.04 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial Ensembl rs1216715267 12q24.31 12 122208512C> T null V M 124 124 missense 0.994 probably damaging 0.09 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs779040136 12q24.31 12 122208509G> C null H D 125 125 missense 0.165 benign 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs764647908 12q24.31 12 122208508T> C null H R 125 125 missense 0.0 benign 1.0 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs779040136 12q24.31 12 122208509G> A null H Y 125 125 missense 0.159 benign 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1448019291 12q24.31 12 122208505T> G null Q P 126 126 missense 0.918 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1448019291 12q24.31 12 122208505T> C null Q R 126 126 missense 0.695 possibly damaging 0.1 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1193868082 12q24.31 12 122208499G> C null S C 128 128 missense 0.522 possibly damaging 0.08 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138784666 12q24.31 12 122208496C> T null R Q 129 129 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ESP,ExAC,TOPMed,gnomAD rs375537524 12q24.31 12 122208497G> A null R W 129 129 missense 0.609 possibly damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1343006878 12q24.31 12 122208490G> C null A G 131 131 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1343006878 12q24.31 12 122208490G> A null A V 131 131 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1274156633 12q24.31 12 122208484G> C null T S 133 133 missense 0.007 benign 0.25 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ExAC,gnomAD rs534795428 12q24.31 12 122208481T> C null K R 134 134 2.0E-4 missense 0.903 possibly damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1409384874 12q24.31 12 122208479G> C null L V 135 135 missense 0.998 probably damaging 0.05 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1313251652 12q24.31 12 122208472T> G null E A 137 137 missense 0.462 possibly damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs751124169 12q24.31 12 122208470C> T null A T 138 138 missense 0.046 benign 0.75 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs760001142 12q24.31 12 122208465C> G null Q H 139 139 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC rs763651707 12q24.31 12 122208466T> C null Q R 139 139 missense 0.997 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs1299845903 12q24.31 12 122208463A> G null I T 140 140 missense 0.0 benign 1.0 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1409867469 12q24.31 12 122208461C> T null E K 141 141 missense 0.012 benign 0.03 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1409867469 12q24.31 12 122208461C> G null E Q 141 141 missense 0.007 benign 0.14 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1369452147 12q24.31 12 122208460T> A null E V 141 141 missense 0.42 benign 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs761150083 12q24.31 12 122208455G> A null L F 143 143 missense 0.984 probably damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1325467280 12q24.31 12 122208454A> G null L P 143 143 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs773655643 12q24.31 12 122208452G> A null R C 144 144 missense 0.873 possibly damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,TOPMed,gnomAD rs772481515 12q24.31 12 122208451C> T null R H 144 144 missense 0.018 benign 0.17 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs748377863 12q24.31 12 122208449G> T null Q K 145 145 missense 0.005 benign 0.39 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1304680651 12q24.31 12 122208440G> C null Q E 148 148 missense 0.205 benign 0.53 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1323281887 12q24.31 12 122208439T> C null Q R 148 148 missense 0.456 possibly damaging 0.19 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1203281941 12q24.31 12 122208437C> G null E Q 149 149 missense 0.75 possibly damaging 0.14 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1272125345 12q24.31 12 122208432T> G null E D 150 150 missense 0.0 benign 0.36 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial Ensembl rs761328867 12q24.31 12 122208433T> C null E G 150 150 missense 0.003 benign 0.18 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1489552571 12q24.31 12 122208434C> T null E K 150 150 missense 0.035 benign 0.3 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1243741310 12q24.31 12 122208430C> G null G A 151 151 missense 0.001 benign 0.68 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150199226 12q24.31 12 122208431C> T null G R 151 151 0.001198 missense 0.007 benign 0.07 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed,gnomAD rs999897604 12q24.31 12 122208425C> T null E K 153 153 missense 0.084 benign 0.37 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ESP,ExAC,TOPMed,gnomAD rs371241484 12q24.31 12 122208422G> C null R G 154 154 missense 0.0 benign 0.39 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs749282754 12q24.31 12 122208421C> T null R Q 154 154 missense 0.0 benign 0.59 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1416489769 12q24.31 12 122208416C> A null E * 156 156 stop gained 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs769655007 12q24.31 12 122208412G> A null S L 157 157 missense 0.0 benign 0.29 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs780949034 12q24.31 12 122208410C> A null E * 158 158 stop gained 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ESP,ExAC,TOPMed,gnomAD rs367673893 12q24.31 12 122208406T> G null Q P 159 159 missense 0.335 benign 0.36 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ExAC,TOPMed,gnomAD rs530426732 12q24.31 12 122208403T> G null E A 160 160 2.0E-4 missense 0.776 possibly damaging 0.01 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1354002754 12q24.31 12 122208402C> G null E D 160 160 missense 0.003 benign 0.32 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs555842468 12q24.31 12 122208404C> T null E K 160 160 missense 0.637 possibly damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs555842468 12q24.31 12 122208404C> G null E Q 160 160 missense 0.684 possibly damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1391765504 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q24.31 12 122216532G> A null A V 160 160 missense 1.0 probably damaging 0.03 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial TOPMed rs1441476566 12q24.31 12 122208401C> A null A S 161 161 missense 0.857 possibly damaging 0.07 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial dbSNP rs1057519151 12q24.31 12 122208389_122208399de l null Y null 162 162 frameshift 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ExAC,gnomAD rs563254479 12q24.31 12 122208397T> A null Y F 162 162 2.0E-4 missense 0.993 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs766996092 12q24.31 12 122208395G> C null L V 163 163 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ESP,ExAC,gnomAD rs373789053 12q24.31 12 122208392G> A null R C 164 164 missense 0.96 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial 1000Genomes,ExAC,TOPMed,gnomAD rs551079634 12q24.31 12 122208391C> T null R H 164 164 2.0E-4 missense 0.839 possibly damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ExAC,gnomAD rs767963561 12q24.31 12 122208389C> G null E Q 165 165 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial gnomAD rs1365705749 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122216509C> T null A T 168 168 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial NCI-TCGA,TOPMed,gnomAD rs781358968 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122208554C> T null A T 183 183 missense 0.665 possibly damaging 0.07 tolerated 0 A0A024RBT2 DIABLO Diablo homolog, mitochondrial ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371241484 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122208422G> A null R W 227 227 missense 0.42 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs761234276 12q24.31 12 122788828C> G null A G 5 5 missense 0.275 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs756743489 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122788833C> T null R C 7 7 missense 0.125 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs141243392 12q24.31 12 122788834G> A null R H 7 7 2.0E-4 missense 0.054 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1311755413 12q24.31 12 122788837A> T null D V 8 8 missense 0.976 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs919957536 12q24.31 12 122788843A> G null K R 10 10 missense 0.781 possibly damaging 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1215823006 12q24.31 12 122788849C> T null A V 12 12 missense 0.0 benign 0.71 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1331092374 12q24.31 12 122788857T> A null C S 15 15 missense 0.015 benign 0.81 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1457408352 12q24.31 12 122788860A> G null I V 16 16 missense 0.005 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs974695507 12q24.31 12 122788870A> G null E G 19 19 missense 0.988 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,TOPMed,gnomAD rs370209442 12q24.31 12 122788869G> A null E K 19 19 missense 0.98 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs202205961 12q24.31 12 122788873A> G null K R 20 20 missense 0.987 probably damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs202205961 12q24.31 12 122788873A> C null K T 20 20 missense 0.983 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs952306924 12q24.31 12 122788875C> G null Q E 21 21 missense 0.391 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs952306924 12q24.31 12 122788875C> A null Q K 21 21 missense 0.941 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs199854554 12q24.31 12 122788880T> G null D E 22 22 missense 0.96 probably damaging 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1387785760 12q24.31 12 122788894T> A null L * 27 27 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs774175442 12q24.31 12 122788899G> A null A T 29 29 missense 0.007 benign 0.42 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs748235376 12q24.31 12 122788900C> T null A V 29 29 missense 0.007 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs772085306 12q24.31 12 122788902C> T null L F 30 30 missense 0.062 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368758447 12q24.31 12 122788906A> G null K R 31 31 5.99E-4 missense 0.024 benign 0.34 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs761037261 12q24.31 12 122788918A> G null N S 35 35 missense 0.037 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1283485549 12q24.31 12 122788921A> T null K I 36 36 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs777073101 12q24.31 12 122788924T> C null L P 37 37 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1555254717 12q24.31 12 122788929G> A null E K 39 39 missense 0.311 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1344079032 12q24.31 12 122792028A> G null N D 42 42 missense 0.941 probably damaging 0.18 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs764663509 12q24.31 12 122792029A> G null N S 42 42 missense 0.391 benign 0.26 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs749893773 12q24.31 12 122792038C> A null T K 45 45 missense 0.739 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs749893773 12q24.31 12 122792038C> T null T M 45 45 missense 0.819 possibly damaging 0.28 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1033861844 12q24.31 12 122792050A> G null N S 49 49 missense 0.983 probably damaging 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs754799246 12q24.31 12 122792053A> G null E G 50 50 missense 0.403 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1442547280 cosmic curated [Cosmic]: lung cosmic_study:418 12q24.31 12 122792055C> A null Q K 51 51 missense 0.205 benign 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372331925 12q24.31 12 122792056A> C null Q P 51 51 missense 0.009 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs992259057 12q24.31 12 122792058C> T null R * 52 52 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143361087 12q24.31 12 122792059G> A null R Q 52 52 3.99E-4 missense 0.574 possibly damaging 0.31 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1436511899 12q24.31 12 122792062A> G null E G 53 53 missense 0.678 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1485695776 12q24.31 12 122792061G> C null E Q 53 53 missense 0.162 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs762641313 12q24.31 12 122792065A> G null E G 54 54 missense 0.634 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs950740146 12q24.31 12 122792067A> G null I V 55 55 missense 0.919 probably damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1212393442 12q24.31 12 122792072T> G null I M 56 56 missense 0.714 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs984795619 12q24.31 12 122792070A> G null I V 56 56 missense 0.028 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs765867205 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122792074G> A null R H 57 57 missense 0.994 probably damaging 0.36 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1244157482 12q24.31 12 122792079A> G null K E 59 59 missense 0.98 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs747041118 12q24.31 12 122792084A> C null Q H 60 60 missense 0.673 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs771186923 12q24.31 12 122792088A> T null K * 62 62 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs771186923 12q24.31 12 122792088A> G null K E 62 62 missense 0.085 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs771186923 12q24.31 12 122792088A> C null K Q 62 62 missense 0.316 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs770066309 12q24.31 12 122792093T> A null S R 63 63 missense 0.643 possibly damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs770066309 12q24.31 12 122792093T> G null S R 63 63 missense 0.643 possibly damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs775646453 12q24.31 12 122792095G> T null C F 64 64 missense 0.013 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1351911557 12q24.31 12 122792101A> G null H R 66 66 missense 0.13 benign 0.61 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375333901 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 12q24.31 12 122792103G> A null D N 67 67 missense 0.975 probably damaging 0.36 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs760146684 12q24.31 12 122792111G> T null L F 69 69 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1426015988 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 12q24.31 12 122792119C> T null T I 72 72 missense 0.025 benign 0.04 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1301960706 12q24.31 12 122797307T> C null V A 73 73 missense 0.001 benign 0.55 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1413563479 12q24.31 12 122797312A> G null R G 75 75 missense 0.983 probably damaging 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs775259284 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122797313G> C null R T 75 75 missense 0.983 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs79287693 12q24.31 12 122797319A> G null K R 77 77 missense 0.618 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs762814336 12q24.31 12 122797322G> A null R K 78 78 missense 0.996 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs764051643 12q24.31 12 122797323G> T null R S 78 78 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1355278893 12q24.31 12 122797328A> C null D A 80 80 missense 0.922 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs751409749 12q24.31 12 122797331A> G null E G 81 81 missense 0.621 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1293604092 12q24.31 12 122797330G> A null E K 81 81 missense 0.453 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1409417843 12q24.31 12 122797335G> C null L F 82 82 missense 0.853 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs750418742 12q24.31 12 122797346C> A null A E 86 86 missense 0.99 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs750418742 12q24.31 12 122797346C> G null A G 86 86 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs146255239 12q24.31 12 122797345G> T null A S 86 86 missense 0.972 probably damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs146255239 12q24.31 12 122797345G> A null A T 86 86 missense 0.988 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs750418742 12q24.31 12 122797346C> T null A V 86 86 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1197502961 12q24.31 12 122797350G> C null K N 87 87 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs780106765 12q24.31 12 122797354A> G null K E 89 89 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs749590258 12q24.31 12 122797360G> T null E * 91 91 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs749590258 12q24.31 12 122797360G> A null E K 91 91 missense 0.725 possibly damaging 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs755321849 12q24.31 12 122797363C> T null R C 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs993212157 12q24.31 12 122797364G> A null R H 92 92 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1318758741 12q24.31 12 122797366A> G null T A 93 93 missense 0.475 possibly damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1169963403 12q24.31 12 122797378C> G null L V 97 97 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs139198472 12q24.31 12 122797381C> T null H Y 98 98 missense 0.439 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1327714787 12q24.31 12 122797391G> T null R I 101 101 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1176037305 12q24.31 12 122798086T> C null I T 103 103 missense 0.154 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1322062264 12q24.31 12 122798089A> T null Y F 104 104 missense 0.673 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1359049473 12q24.31 12 122798097C> G null Q E 107 107 missense 0.183 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1453465931 12q24.31 12 122798104G> A null S N 109 109 missense 0.022 benign 0.43 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs756143185 12q24.31 12 122798106G> T null D Y 110 110 missense 0.873 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs753929252 12q24.31 12 122798113A> T null Q L 112 112 missense 0.311 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs971303790 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 12q24.31 12 122798118C> A null L I 114 114 missense 0.997 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs755125925 12q24.31 12 122798125T> G null F C 116 116 missense 0.8 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs779139526 12q24.31 12 122798128A> T null N I 117 117 missense 0.468 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs779139526 12q24.31 12 122798128A> G null N S 117 117 missense 0.021 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs984616654 12q24.31 12 122798136A> G null N D 120 120 missense 0.116 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1229439242 12q24.31 12 122798140C> G null S C 121 121 missense 0.091 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778113712 12q24.31 12 122798152T> C null I T 125 125 missense 0.079 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373556095 12q24.31 12 122798154C> T null Q * 126 126 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs769178465 12q24.31 12 122798158T> C null M T 127 127 missense 0.003 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1293527904 12q24.31 12 122798157A> G null M V 127 127 missense 0.003 benign 0.14 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78361567 12q24.31 12 122798161A> G null Y C 128 128 0.00619 missense 0.01 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs78361567 12q24.31 12 122798161A> T null Y F 128 128 0.00619 missense 0.006 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1368912379 12q24.31 12 122798163G> A null D N 129 129 missense 0.003 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1480871094 12q24.31 12 122798166T> A null S T 130 130 missense 0.005 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs768372312 12q24.31 12 122798169A> G null K E 131 131 missense 0.099 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs768372312 12q24.31 12 122798169A> C null K Q 131 131 missense 0.189 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs774192846 12q24.31 12 122798172A> G null M V 132 132 missense 0.006 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1160271001 12q24.31 12 122798175G> T null E * 133 133 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes rs189466786 12q24.31 12 122798177G> C null E D 133 133 2.0E-4 missense 0.007 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs369413638 12q24.31 12 122798200G> A null S N 141 141 missense 0.369 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370023254 12q24.31 12 122801133G> A null M I 144 144 missense 0.121 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375704989 12q24.31 12 122801131A> C null M L 144 144 missense 0.006 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375704989 12q24.31 12 122801131A> G null M V 144 144 missense 0.121 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1437273992 12q24.31 12 122801135G> T null C F 145 145 missense 0.961 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1205859048 12q24.31 12 122801140T> C null S P 147 147 missense 0.914 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs757607826 12q24.31 12 122801149G> A null E K 150 150 missense 0.654 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs757607826 12q24.31 12 122801149G> C null E Q 150 150 missense 0.856 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs373036488 12q24.31 12 122801161C> T null P S 154 154 missense 0.019 benign 0.39 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1258588651 12q24.31 12 122801164A> G null K E 155 155 missense 0.997 probably damaging 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs754520724 12q24.31 12 122801171A> G null D G 157 157 missense 0.085 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs188186254 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 12q24.31 12 122801170G> A null D N 157 157 5.99E-4 missense 0.003 benign 0.05 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778507187 12q24.31 12 122801174T> A null I N 158 158 missense 0.542 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1341052041 12q24.31 12 122801176A> G null K E 159 159 missense 0.039 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1356200326 12q24.31 12 122801180G> A null R K 160 160 missense 0.875 possibly damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1394115530 12q24.31 12 122801201T> C null L P 167 167 missense 0.009 benign 0.14 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201433522 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801209G> A null D N 170 170 2.0E-4 missense 0.558 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1285692210 12q24.31 12 122801214G> C null Q H 171 171 missense 0.006 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs746798450 12q24.31 12 122801224G> A null A T 175 175 missense 0.001 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141587850 12q24.31 12 122801228T> C null M T 176 176 0.005591 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs979860198 12q24.31 12 122801227A> G null M V 176 176 missense 0.0 benign 0.26 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs777883090 12q24.31 12 122801232G> T null L F 177 177 missense 0.011 benign 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1368435277 12q24.31 12 122801239C> G null Q E 180 180 missense 0.173 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs775504326 12q24.31 12 122801248T> C null S P 183 183 missense 0.003 benign 0.21 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1281536104 12q24.31 12 122801251G> C null D H 184 184 missense 0.912 probably damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1486832582 12q24.31 12 122801255A> G null K R 185 185 missense 0.005 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs545336133 12q24.31 12 122801265C> A null C * 188 188 3.99E-4 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1040613218 12q24.31 12 122801264G> A null C Y 188 188 missense 0.009 benign 0.31 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs774474363 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801266G> A null D N 189 189 missense 0.029 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs762231732 12q24.31 12 122801269G> T null E * 190 190 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs768051388 12q24.31 12 122801272T> C null C R 191 191 missense 0.015 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1432789628 12q24.31 12 122801275A> G null K E 192 192 missense 0.017 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs750830635 12q24.31 12 122801284A> G null K E 195 195 missense 0.453 possibly damaging 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs750830635 12q24.31 12 122801284A> C null K Q 195 195 missense 0.73 possibly damaging 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1487645028 12q24.31 12 122801287C> G null Q E 196 196 missense 0.023 benign 0.36 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs767024804 12q24.31 12 122801291A> G null Q R 197 197 missense 0.001 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566079716 12q24.31 12 122801294T> C null I T 198 198 missense 0.037 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1356926284 12q24.31 12 122801297A> G null D G 199 199 missense 0.0 benign 0.25 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1431683921 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801296G> A null D N 199 199 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs201538122 12q24.31 12 122801300C> T null T I 200 200 7.99E-4 missense 0.277 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs147898872 12q24.31 12 122801303T> C null V A 201 201 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1234233996 12q24.31 12 122801302G> A null V M 201 201 missense 0.206 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs17855031 pubmed:15489334 12q24.31 12 122801327C> A null T K 209 209 missense 0.272 benign 0.35 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs17855031 12q24.31 12 122801327C> T null T M 209 209 missense 0.736 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1387473716 12q24.31 12 122801338A> G null I V 213 213 missense 0.0 benign 0.23 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1390590283 12q24.31 12 122801341T> G null F V 214 214 missense 0.146 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs745671215 12q24.31 12 122801352C> G null D E 217 217 missense 0.996 probably damaging 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs878900282 12q24.31 12 122801360A> T null E V 220 220 missense 0.836 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs749353109 12q24.31 12 122801365C> T null H Y 222 222 missense 0.058 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566079810 12q24.31 12 122801369A> G null N S 223 223 missense 0.0 benign 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs768682142 12q24.31 12 122801375C> T null P L 225 225 missense 0.202 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1401536678 12q24.31 12 122801395A> G null T A 232 232 missense 0.0 benign 0.24 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs774617309 12q24.31 12 122801404G> A null E K 235 235 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148126897 12q24.31 12 122801410G> A null E K 237 237 5.99E-4 missense 0.129 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1451705082 12q24.31 12 122801422A> G null T A 241 241 missense 0.197 benign 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374651077 12q24.31 12 122801423C> T null T I 241 241 missense 0.463 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1002855314 12q24.31 12 122801429G> C null C S 243 243 missense 0.007 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141048617 12q24.31 12 122801431A> G null K E 244 244 2.0E-4 missense 0.291 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1224013559 12q24.31 12 122801432A> C null K T 244 244 missense 0.544 possibly damaging 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs757923046 12q24.31 12 122801434A> G null I V 245 245 missense 0.003 benign 0.36 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1459081167 12q24.31 12 122801437C> A null H N 246 246 missense 0.736 possibly damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566079878 12q24.31 12 122801450C> T null P L 250 250 missense 0.007 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs763572618 12q24.31 12 122801452A> C null K Q 251 251 missense 0.067 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs751097754 12q24.31 12 122801456G> A null C Y 252 252 missense 0.243 benign 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs540867038 12q24.31 12 122801459A> G null H R 253 253 7.99E-4 missense 0.051 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199705995 12q24.31 12 122801465C> G null T S 255 255 2.0E-4 missense 0.005 benign 0.77 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1034934949 12q24.31 12 122801475G> T null Q H 258 258 missense 0.742 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs780033896 12q24.31 12 122801479G> T null E * 260 260 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs780033896 12q24.31 12 122801479G> A null E K 260 260 missense 0.24 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1161703872 12q24.31 12 122801486A> G null K R 262 262 missense 0.022 benign 0.14 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs749239981 12q24.31 12 122801492C> G null P R 264 264 missense 0.277 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1461037280 12q24.31 12 122801494T> C null S P 265 265 missense 0.929 probably damaging 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs768650790 12q24.31 12 122801504C> G null P R 268 268 missense 0.035 benign 0.07 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs748269523 12q24.31 12 122801516A> G null D G 272 272 missense 0.006 benign 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs985198794 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q24.31 12 122801518G> A null E K 273 273 missense 0.109 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1449640182 12q24.31 12 122801527T> G null W G 276 276 missense 0.736 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1328712948 12q24.31 12 122801531A> G null H R 277 277 missense 0.382 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs772372235 12q24.31 12 122801533G> C null D H 278 278 missense 0.961 probably damaging 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs772372235 12q24.31 12 122801533G> A null D N 278 278 missense 0.892 possibly damaging 0.23 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs773618660 12q24.31 12 122801534A> T null D V 278 278 missense 0.755 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1289895084 12q24.31 12 122801536G> A null V I 279 279 missense 0.003 benign 0.35 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1273304407 12q24.31 12 122801549T> C null L P 283 283 missense 0.919 probably damaging 0.05 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,gnomAD rs368745484 12q24.31 12 122801561A> G null N S 287 287 missense 0.0 benign 0.61 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,gnomAD rs138955637 12q24.31 12 122801564G> A null C Y 288 288 missense 0.961 probably damaging 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1173972839 12q24.31 12 122801567C> A null P Q 289 289 missense 0.387 benign 0.32 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1194993713 12q24.31 12 122801566C> T null P S 289 289 missense 0.003 benign 0.75 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs750997907 12q24.31 12 122801579A> G null H R 293 293 missense 0.0 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1376560907 12q24.31 12 122801578C> T null H Y 293 293 missense 0.058 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1370289900 12q24.31 12 122801585A> C null E A 295 295 missense 0.124 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs761358663 12q24.31 12 122801586A> T null E D 295 295 missense 0.003 benign 0.3 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs761358663 12q24.31 12 122801586A> C null E D 295 295 missense 0.003 benign 0.3 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1370289900 12q24.31 12 122801585A> G null E G 295 295 missense 0.003 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1263972951 12q24.31 12 122801584G> A null E K 295 295 missense 0.234 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1197723509 12q24.31 12 122801587A> T null K * 296 296 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1435900488 12q24.31 12 122801588A> T null K M 296 296 missense 0.912 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1280923985 12q24.31 12 122801589G> T null K N 296 296 missense 0.714 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1412158291 12q24.31 12 122801595T> G null D E 298 298 missense 0.067 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1196512393 12q24.31 12 122801594A> G null D G 298 298 missense 0.453 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs767122360 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801597T> C null V A 299 299 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs549775391 12q24.31 12 122801596G> A null V I 299 299 missense 0.001 benign 0.36 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs755888041 12q24.31 12 122801602T> C null C R 301 301 missense 0.316 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1293508547 12q24.31 12 122801605C> T null Q * 302 302 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1301334181 12q24.31 12 122801608G> A null D N 303 303 missense 0.856 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs753671216 12q24.31 12 122801611C> G null Q E 304 304 missense 0.023 benign 0.86 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs754830884 12q24.31 12 122801612A> G null Q R 304 304 missense 0.001 benign 0.73 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1340003930 12q24.31 12 122801620A> G null R G 307 307 missense 0.121 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778931723 12q24.31 12 122801621G> T null R M 307 307 missense 0.053 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,TOPMed,gnomAD rs145950256 12q24.31 12 122801622G> C null R S 307 307 missense 0.011 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs772319364 12q24.31 12 122801626G> T null E * 309 309 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs772319364 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801626G> A null E K 309 309 missense 0.158 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1258492593 12q24.31 12 122801633C> T null S L 311 311 missense 0.067 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778139001 12q24.31 12 122801636G> A null C Y 312 312 missense 0.003 benign 0.28 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs747294737 12q24.31 12 122801639G> T null C F 313 313 missense 0.082 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs771200702 12q24.31 12 122801646A> C null K N 315 315 missense 0.003 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs776798019 12q24.31 12 122801648A> G null N S 316 316 missense 0.009 benign 0.59 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs923962912 12q24.31 12 122801654C> T null A V 318 318 missense 0.006 benign 0.18 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs990690474 12q24.31 12 122801656T> C null C R 319 319 missense 0.461 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs759979825 12q24.31 12 122801659C> G null L V 320 320 missense 0.006 benign 0.43 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1375278557 12q24.31 12 122801662G> T null G C 321 321 missense 0.874 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,NCI-TCGA,TOPMed,gnomAD rs569908909 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 12q24.31 12 122801665G> A null E K 322 322 2.0E-4 missense 0.031 benign 0.06 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs376779932 12q24.31 12 122801669G> C null S T 323 323 missense 0.121 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs530858736 12q24.31 12 122801672G> A null G D 324 324 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs767069379 12q24.31 12 122801675T> C null M T 325 325 missense 0.001 benign 0.5 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1294234465 12q24.31 12 122801674A> G null M V 325 325 missense 0.0 benign 0.84 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,TOPMed,gnomAD rs138584723 12q24.31 12 122801678G> A null C Y 326 326 missense 0.007 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1301129720 12q24.31 12 122801687A> G null K R 329 329 missense 0.013 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs749946854 12q24.31 12 122801696A> G null H R 332 332 missense 0.046 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs776373958 12q24.31 12 122801699C> T null P L 333 333 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1331331167 12q24.31 12 122801702G> A null S N 334 334 missense 0.797 possibly damaging 0.14 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1331331167 12q24.31 12 122801702G> C null S T 334 334 missense 0.795 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC rs370139805 12q24.31 12 122801711T> C null I T 337 337 missense 0.23 benign 0.07 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1204734388 12q24.31 12 122801714T> C null I T 338 338 missense 0.306 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1384181624 12q24.31 12 122801713A> G null I V 338 338 missense 0.013 benign 0.54 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141689290 12q24.31 12 122801722C> G null P A 341 341 9.98E-4 missense 0.352 benign 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,TOPMed rs376712102 12q24.31 12 122801723C> T null P L 341 341 missense 0.039 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141689290 12q24.31 12 122801722C> T null P S 341 341 9.98E-4 missense 0.116 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs747092493 12q24.31 12 122801725G> A null G S 342 342 missense 0.357 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1455025486 12q24.31 12 122801728C> T null H Y 343 343 missense 0.003 benign 0.3 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs781503880 12q24.31 12 122801731A> G null M V 344 344 missense 0.003 benign 0.49 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371690932 12q24.31 12 122801739C> G null D E 346 346 2.0E-4 missense 0.998 probably damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1447819666 12q24.31 12 122801738A> G null D G 346 346 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75175797 12q24.31 12 122801740G> T null V L 347 347 0.005391 missense 0.005 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75175797 12q24.31 12 122801740G> C null V L 347 347 0.005391 missense 0.005 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75175797 12q24.31 12 122801740G> A null V M 347 347 0.005391 missense 0.014 benign 0.24 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1388792229 12q24.31 12 122801743G> A null E K 348 348 missense 0.356 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs769167318 12q24.31 12 122801746T> G null W G 349 349 missense 0.041 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs772662041 12q24.31 12 122801751G> A null M I 350 350 missense 0.011 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs896847842 12q24.31 12 122801749A> G null M V 350 350 missense 0.047 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs760263928 12q24.31 12 122801753G> A null S N 351 351 missense 0.001 benign 0.51 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs993855750 12q24.31 12 122801763G> C null K N 354 354 missense 0.067 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1303173416 12q24.31 12 122801764C> A null P T 355 355 missense 0.935 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1314859675 12q24.31 12 122801768C> T null S F 356 356 missense 0.884 possibly damaging 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1056018084 12q24.31 12 122801767T> A null S T 356 356 missense 0.439 benign 0.17 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs765916160 12q24.31 12 122801775G> A null M I 358 358 missense 0.009 benign 0.24 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs776393227 12q24.31 12 122801777A> G null Q R 359 359 missense 0.006 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs759236904 12q24.31 12 122801779A> G null R G 360 360 missense 0.797 possibly damaging 0.21 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1316083322 12q24.31 12 122801783T> C null I T 361 361 missense 0.02 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs765144942 12q24.31 12 122801788C> T null R C 363 363 missense 0.809 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1252384447 12q24.31 12 122801789G> A null R H 363 363 missense 0.007 benign 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs752542291 12q24.31 12 122801791C> T null L F 364 364 missense 0.063 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566080484 12q24.31 12 122801794A> G null K E 365 365 missense 0.359 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1263719641 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801800G> A null G R 367 367 missense 0.101 benign 0.15 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs758351015 12q24.31 12 122801804G> T null C F 368 368 missense 0.93 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1462577584 12q24.31 12 122801803T> A null C S 368 368 missense 0.579 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566080507 12q24.31 12 122801805C> G null C W 368 368 missense 0.975 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs764145983 12q24.31 12 122801807C> T null T I 369 369 missense 0.766 possibly damaging 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs751645409 12q24.31 12 122801810G> A null C Y 370 370 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,gnomAD rs199891405 12q24.31 12 122801817A> T null E D 372 372 2.0E-4 missense 0.288 benign 0.38 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,gnomAD rs199891405 12q24.31 12 122801817A> C null E D 372 372 2.0E-4 missense 0.288 benign 0.38 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs746171063 12q24.31 12 122801838T> A null H Q 379 379 missense 0.154 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs781261329 12q24.31 12 122801837A> G null H R 379 379 missense 0.005 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs756298234 12q24.31 12 122801839G> C null D H 380 380 missense 0.003 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs780340207 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122801846C> T null P L 382 382 missense 0.0 benign 0.59 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1209478649 12q24.31 12 122806159T> C null I T 387 387 missense 0.007 benign 0.49 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1185400083 12q24.31 12 122806168A> C null Q P 390 390 missense 0.862 possibly damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs780693155 12q24.31 12 122806170G> T null D Y 391 391 missense 0.055 benign 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs868849647 12q24.31 12 122806176C> A null H N 393 393 missense 0.167 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1183107572 12q24.31 12 122806180C> G null S C 394 394 missense 0.001 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1305466269 12q24.31 12 122806179T> C null S P 394 394 missense 0.564 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1270674925 12q24.31 12 122806186G> C null G A 396 396 missense 0.475 possibly damaging 0.19 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1230569020 12q24.31 12 122806189C> T null S F 397 397 missense 0.824 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1380341053 12q24.31 12 122806195A> C null K T 399 399 missense 0.346 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1427876271 12q24.31 12 122806211A> T null E D 404 404 missense 0.21 benign 0.05 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs142626019 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122806219C> T null T M 407 407 2.0E-4 missense 0.754 possibly damaging 0.09 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142626019 12q24.31 12 122806219C> G null T R 407 407 2.0E-4 missense 0.031 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs775318071 12q24.31 12 122806225C> G null S C 409 409 missense 0.639 possibly damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs762816058 12q24.31 12 122806234A> G null N S 412 412 missense 0.009 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs768643588 12q24.31 12 122806245T> G null S A 416 416 missense 0.003 benign 0.26 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs774024082 12q24.31 12 122806249C> T null P L 417 417 missense 0.087 benign 0.12 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs761755699 12q24.31 12 122806252C> A null T K 418 418 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs761755699 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 12q24.31 12 122806252C> T null T M 418 418 missense 0.36 benign 0.05 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs750476793 12q24.31 12 122806257T> G null L V 420 420 missense 0.359 benign 0.1 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1156834714 12q24.31 12 122806261T> G null L * 421 421 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1425548020 12q24.31 12 122806263A> T null I F 422 422 missense 0.0 benign 0.37 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs983940383 12q24.31 12 122806264T> C null I T 422 422 missense 0.003 benign 0.42 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1182759390 12q24.31 12 122806267A> G null Y C 423 423 missense 0.0 benign 0.18 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1439491684 12q24.31 12 122806269A> C null K Q 424 424 missense 0.372 benign 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs760784616 12q24.31 12 122806270A> C null K T 424 424 missense 0.366 benign 0.02 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,gnomAD rs201866869 12q24.31 12 122806275G> T null A S 426 426 5.99E-4 missense 0.009 benign 0.3 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1015039949 12q24.31 12 122806278C> A null P T 427 427 missense 0.001 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566083003 12q24.31 12 122806284T> G null F V 429 429 missense 0.003 benign 0.53 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs754116643 12q24.31 12 122806288A> G null N S 430 430 missense 0.0 benign 0.51 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs553772107 12q24.31 12 122806293A> G null K E 432 432 0.001597 missense 0.164 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs779269736 12q24.31 12 122806294A> G null K R 432 432 missense 0.23 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1464105304 cosmic curated [Cosmic]: kidney cosmic_study:416 12q24.31 12 122813270G> A null A T 433 433 missense 0.003 benign 0.36 tolerated 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs766513080 12q24.31 12 122813271C> T null A V 433 433 missense 0.0 benign 0.59 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs753919054 12q24.31 12 122813274C> T null S L 434 434 missense 0.006 benign 0.62 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1198034185 12q24.31 12 122813276A> G null I V 435 435 missense 0.0 benign 1.0 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1247090487 12q24.31 12 122813279G> T null V L 436 436 missense 0.036 benign 0.35 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs765398059 12q24.31 12 122813283T> C null L S 437 437 missense 0.294 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1411490167 12q24.31 12 122813286C> A null P H 438 438 missense 0.267 benign 0.08 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs753064099 12q24.31 12 122813285C> T null P S 438 438 missense 0.0 benign 0.54 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs764636974 12q24.31 12 122813291C> G null Q E 440 440 missense 0.969 probably damaging 0.13 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1392322022 12q24.31 12 122813292A> G null Q R 440 440 missense 0.979 probably damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1305031182 12q24.31 12 122813297G> T null D Y 442 442 missense 0.863 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs752165996 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122813304C> T null S L 444 444 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs779657244 12q24.31 12 122813307C> T null P L 445 445 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs748831792 12q24.31 12 122813309A> G null T A 446 446 missense 0.996 probably damaging 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs200979651 12q24.31 12 122813310C> T null T M 446 446 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1228554163 12q24.31 12 122813312A> G null S G 447 447 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1331968847 12q24.31 12 122813317G> T null K N 448 448 missense 0.964 probably damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1373961142 12q24.31 12 122813321C> T null Q * 450 450 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371482324 12q24.31 12 122813324C> T null R C 451 451 missense 0.999 probably damaging 0.06 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs773196241 12q24.31 12 122813325G> A null R H 451 451 missense 0.999 probably damaging 0.21 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs746880817 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 12q24.31 12 122813334C> T null A V 454 454 missense 0.998 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1473058028 12q24.31 12 122813336G> T null E * 455 455 stop gained 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1473058028 12q24.31 12 122813336G> A null E K 455 455 missense 0.997 probably damaging 0.04 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1043623162 12q24.31 12 122813340C> G null S C 456 456 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1043623162 12q24.31 12 122813340C> T null S F 456 456 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs776640583 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122813342C> T null R C 457 457 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs759641693 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 12q24.31 12 122813343G> A null R H 457 457 missense 0.999 probably damaging 0.0 deleterious 1 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs765465257 12q24.31 12 122813349T> C null M T 459 459 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55716280 12q24.31 12 122813355C> T null T M 461 461 0.02576 missense 0.963 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs775619984 12q24.31 12 122813354A> C null T P 461 461 missense 0.925 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs751990186 12q24.31 12 122813359C> A null D E 462 462 missense 0.34 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs991342989 12q24.31 12 122813363G> C null E Q 464 464 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1307816236 12q24.31 12 122813370G> A null S N 466 466 missense 0.189 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs757793011 12q24.31 12 122813372A> C null T P 467 467 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,gnomAD rs143536297 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.31 12 122813382C> T null P L 470 470 3.99E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a 1000Genomes,ExAC,gnomAD rs143536297 12q24.31 12 122813382C> G null P R 470 470 3.99E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs376927819 12q24.31 12 122813385T> C null I T 471 471 missense 0.295 benign 0.11 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1174510283 12q24.31 12 122813390C> G null H D 473 473 missense 0.015 benign 0.53 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566087271 12q24.31 12 122813391A> C null H P 473 473 missense 0.0 benign 0.22 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374420339 12q24.31 12 122813392T> A null H Q 473 473 missense 0.069 benign 0.16 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1358381726 12q24.31 12 122813395G> C null E D 474 474 missense 0.009 benign 0.03 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1344996922 12q24.31 12 122813394A> G null E G 474 474 missense 0.311 benign 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs947498529 12q24.31 12 122813403C> T null T I 477 477 missense 0.101 benign 0.01 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1193960227 12q24.31 12 122813408A> C null S R 479 479 missense 0.474 possibly damaging 0.0 deleterious 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1273671675 12q24.31 12 122813414A> G null T A 481 481 missense 0.01 benign 0.75 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778614854 12q24.31 12 122813415C> T null T I 481 481 missense 0.025 benign 0.2 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs778614854 12q24.31 12 122813415C> A null T K 481 481 missense 0.0 benign 0.99 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs747822993 12q24.31 12 122813417A> G null N D 482 482 missense 0.037 benign 0.27 tolerated 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1220054253 12q24.31 12 122826425T> G null S A 484 484 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372780491 12q24.31 12 122826429A> G null H R 485 485 missense 0.0 benign 0.63 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs772436650 12q24.31 12 122826434T> C null C R 487 487 missense 0.001 benign 0.16 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566093980 12q24.31 12 122826435G> A null C Y 487 487 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs773400376 12q24.31 12 122826438G> A null G E 488 488 missense 0.466 possibly damaging 0.29 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1471426192 12q24.31 12 122826440A> G null R G 489 489 missense 0.009 benign 0.4 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a Ensembl rs1566093999 12q24.31 12 122826446A> G null K E 491 491 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,TOPMed,gnomAD rs747430347 12q24.31 12 122826447A> G null K R 491 491 missense 0.003 benign 0.51 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed rs1433446117 12q24.31 12 122826450C> G null A G 492 492 missense 0.35 benign 0.07 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ExAC,gnomAD rs777241229 12q24.31 12 122826458A> T null N Y 495 495 missense 0.127 benign 0.02 deleterious - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1349237675 12q24.31 12 122826462C> T null T I 496 496 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a gnomAD rs1190119692 12q24.31 12 122826461A> C null T P 496 496 missense 0.466 possibly damaging 0.0 deleterious - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a TOPMed,gnomAD rs1458285863 12q24.31 12 122826464G> A null E K 497 497 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A024RBT8 CCDC62 Coiled-coil domain containing 62, isoform CRA_a ESP rs866509684 12q24.31 12 122826468du p null * W 498 498 stop lost 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs773544185 6p21.33 6 31410770C> G null L V 3 3 missense 0.998 probably damaging 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs17200207 6p21.33 6 31410773G> A null A T 4 4 missense 0.031 benign 0.2 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1190250981 6p21.33 6 31410777A> C null H P 5 5 missense 0.879 possibly damaging 0.11 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1425663015 6p21.33 6 31410776C> T null H Y 5 5 missense 0.024 benign 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1476851649 6p21.33 6 31410779A> G null I V 6 6 missense 0.12 benign 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs766489634 6p21.33 6 31410782A> G null K E 7 7 missense 0.015 benign 0.2 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1188647529 6p21.33 6 31410789A> G null Q R 9 9 missense 0.196 benign 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs17200214 6p21.33 6 31410795A> G null E G 11 11 missense 0.0 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs992637981 6p21.33 6 31411076G> C null L F 13 13 missense 0.999 probably damaging 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs959455053 6p21.33 6 31411075T> C null L S 13 13 missense 1.0 probably damaging 0.21 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs773242477 6p21.33 6 31411077C> T null H Y 14 14 missense 0.974 probably damaging 0.06 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs41544623 6p21.33 6 31411083C> T null L F 16 16 missense 0.995 probably damaging 0.09 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41558312 6p21.33 6 31411087A> T null Q L 17 17 0.03175 missense 0.652 possibly damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41558312 6p21.33 6 31411087A> G null Q R 17 17 0.03175 missense 0.041 benign 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs770954179 6p21.33 6 31411094T> G null I M 19 19 missense 0.993 probably damaging 0.32 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1250981471 6p21.33 6 31411096G> A null R K 20 20 missense 0.003 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs776673195 6p21.33 6 31411097G> C null R S 20 20 missense 0.188 benign 0.14 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs759656020 6p21.33 6 31411098G> T null V F 21 21 missense 0.638 possibly damaging 0.48 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs759656020 6p21.33 6 31411098G> A null V I 21 21 missense 0.006 benign 0.45 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1251025303 6p21.33 6 31411101T> A null C S 22 22 missense 0.961 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1474745456 6p21.33 6 31411111A> G null H R 25 25 missense 0.751 possibly damaging 0.36 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs190052924 6p21.33 6 31411116G> A null D N 27 27 3.99E-4 missense 0.999 probably damaging 0.05 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs751553245 6p21.33 6 31411120A> G null N S 28 28 missense 0.0 benign 0.44 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1348459863 6p21.33 6 31411122A> G null S G 29 29 missense 0.927 probably damaging 0.31 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1220578744 6p21.33 6 31411124C> G null S R 29 29 missense 0.994 probably damaging 0.45 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1169067930 6p21.33 6 31411125A> T null T S 30 30 missense 0.993 probably damaging 0.25 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs41557113 6p21.33 6 31411129G> A null R K 31 31 missense 0.012 benign 0.18 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1352250501 6p21.33 6 31411131A> G null S G 32 32 missense 0.006 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1463234741 6p21.33 6 31411132G> T null S I 32 32 missense 0.933 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1387031240 6p21.33 6 31411137C> G null Q E 34 34 missense 0.215 benign 0.2 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs761453958 6p21.33 6 31411139G> C null Q H 34 34 missense 0.795 possibly damaging 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1298367173 6p21.33 6 31411138A> G null Q R 34 34 missense 0.063 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed rs767344473 6p21.33 6 31411142T> A null H Q 35 35 missense 0.998 probably damaging 0.14 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1414504614 6p21.33 6 31411140C> T null H Y 35 35 missense 0.998 probably damaging 0.5 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs750002665 6p21.33 6 31411143T> C null F L 36 36 missense 0.997 probably damaging 0.25 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,NCI-TCGA,gnomAD rs755812607 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31411147A> G null Y C 37 37 missense 0.986 probably damaging 0.26 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1244824627 6p21.33 6 31411146T> C null Y H 37 37 missense 0.981 probably damaging 0.35 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1489339401 6p21.33 6 31411150A> G null Y C 38 38 missense 0.994 probably damaging 0.07 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1295029117 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31411152G> A null D N 39 39 missense 0.013 benign 0.23 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41556715 6p21.33 6 31411155G> A null G R 40 40 0.01418 missense 0.963 probably damaging 0.06 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs779505758 6p21.33 6 31411176A> C null N H 47 47 missense 0.972 probably damaging 0.59 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051790 6p21.33 6 31411179C> A null L M 48 48 0.2183 missense 1.0 probably damaging 0.18 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051790 6p21.33 6 31411179C> G null L V 48 48 0.2183 missense 0.998 probably damaging 0.31 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1259550477 6p21.33 6 31411182G> A null E K 49 49 missense 0.257 benign 0.21 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1432843151 6p21.33 6 31411186C> T null T I 50 50 missense 0.937 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41539919 6p21.33 6 31411185A> T null T S 50 50 9.98E-4 missense 0.349 benign 0.08 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051791 6p21.33 6 31411188G> A null E K 51 51 0.01178 missense 0.097 benign 0.29 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051791 6p21.33 6 31411188G> C null E Q 51 51 0.01178 missense 0.006 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs776908494 6p21.33 6 31411194T> G null W G 53 53 missense 0.193 benign 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs745932785 6p21.33 6 31411195G> C null W S 53 53 missense 0.018 benign 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1170743708 6p21.33 6 31411198C> T null T I 54 54 missense 0.777 possibly damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051792 6p21.33 6 31411200G> A null V M 55 55 0.3648 missense 0.478 possibly damaging 0.07 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1311502268 6p21.33 6 31411203C> T null P S 56 56 missense 0.022 benign 0.23 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1466150680 6p21.33 6 31411212T> C null S P 59 59 missense 0.966 probably damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1270105030 6p21.33 6 31411234T> C null M T 66 66 missense 0.17 benign 0.11 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1268670925 6p21.33 6 31411233A> G null M V 66 66 missense 0.001 benign 0.36 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3819269 6p21.33 6 31411239G> A null V I 68 68 9.98E-4 missense 0.001 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1298616628 6p21.33 6 31411243G> C null R T 69 69 missense 0.007 benign 0.34 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs767167060 6p21.33 6 31411252T> G null L W 72 72 missense 0.031 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41560824 6p21.33 6 31411266A> G null M V 77 77 0.01378 missense 0.003 benign 0.34 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs772852827 6p21.33 6 31411271G> C null K N 78 78 missense 0.939 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1486562745 6p21.33 6 31411275A> G null K E 80 80 missense 0.144 benign 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs760585199 6p21.33 6 31411279C> T null T I 81 81 missense 0.999 probably damaging 0.23 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3819268 6p21.33 6 31411282A> T null H L 82 82 0.02835 missense 0.569 possibly damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3819268 6p21.33 6 31411282A> G null H R 82 82 0.02835 missense 0.027 benign 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs766116357 6p21.33 6 31411289C> A null H Q 84 84 missense 0.149 benign 0.31 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1452258258 6p21.33 6 31411288A> G null H R 84 84 missense 0.001 benign 0.38 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs753096505 6p21.33 6 31411290G> T null A S 85 85 missense 0.555 possibly damaging 0.49 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs753096505 6p21.33 6 31411290G> A null A T 85 85 missense 0.04 benign 0.48 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs751182756 6p21.33 6 31411298T> A null H Q 87 87 missense 0.003 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs751182756 6p21.33 6 31411298T> G null H Q 87 87 missense 0.003 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1465672558 6p21.33 6 31411296C> T null H Y 87 87 missense 0.285 benign 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs747399661 6p21.33 6 31411314G> A null E K 93 93 missense 0.003 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1450158882 6p21.33 6 31411317C> A null L I 94 94 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1321374008 6p21.33 6 31411318T> C null L P 94 94 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs781330960 6p21.33 6 31411321G> A null R Q 95 95 missense 0.009 benign 0.72 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs757679954 6p21.33 6 31411320C> T null R W 95 95 missense 0.021 benign 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs746091244 6p21.33 6 31411323C> T null R * 96 96 stop gained 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs769820263 6p21.33 6 31411324G> A null R Q 96 96 missense 0.026 benign 0.49 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1445245203 6p21.33 6 31411333A> G null E G 99 99 missense 0.381 benign 0.16 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1051794 6p21.33 6 31411332G> A null E K 99 99 0.3646 missense 0.018 benign 0.94 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1209271029 6p21.33 6 31411336C> A null S Y 100 100 missense 0.788 possibly damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1131896 6p21.33 6 31411338G> C null G R 101 101 0.3454 missense 0.082 benign 0.38 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1131896 6p21.33 6 31411338G> A null G S 101 101 0.3454 missense 0.084 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs530334547 6p21.33 6 31411342T> C null V A 102 102 2.0E-4 missense 0.011 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41549718 6p21.33 6 31411341G> A null V I 102 102 0.001997 missense 0.001 benign 0.5 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs759284709 6p21.33 6 31411344G> A null V I 103 103 missense 0.069 benign 0.42 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs764851411 6p21.33 6 31411347C> A null L M 104 104 missense 0.522 possibly damaging 0.35 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs1562245849 6p21.33 6 31411348T> C null L P 104 104 missense 0.692 possibly damaging 0.14 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1296258723 6p21.33 6 31411350A> T null R W 105 105 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1131897 6p21.33 6 31411357C> G null T R 107 107 0.1222 missense 0.044 benign 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs539007016 6p21.33 6 31411359G> C null V L 108 108 missense 0.101 benign 0.2 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs539007016 6p21.33 6 31411359G> A null V M 108 108 missense 0.874 possibly damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs762470610 6p21.33 6 31411953C> T null P L 110 110 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1338149216 6p21.33 6 31411957G> A null M I 111 111 missense 0.254 benign 0.16 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,NCI-TCGA,TOPMed,gnomAD rs763515128 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31411970C> T null R C 116 116 missense 0.019 benign 0.16 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,NCI-TCGA,TOPMed,gnomAD rs752018470 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31411971G> A null R H 116 116 missense 0.005 benign 0.55 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs752018470 6p21.33 6 31411971G> T null R L 116 116 missense 0.232 benign 0.66 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs763515128 6p21.33 6 31411970C> A null R S 116 116 missense 0.489 possibly damaging 0.42 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1206237939 6p21.33 6 31411974G> T null S I 117 117 missense 0.466 possibly damaging 0.05 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1206237939 6p21.33 6 31411974G> C null S T 117 117 missense 0.096 benign 0.19 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1013523501 6p21.33 6 31411978G> C null E D 118 118 missense 0.127 benign 0.11 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs376912874 6p21.33 6 31411976G> A null E K 118 118 missense 0.02 benign 0.15 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1025201583 6p21.33 6 31411980C> T null A V 119 119 missense 0.003 benign 0.17 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1475097041 6p21.33 6 31411997A> C null T P 125 125 missense 0.771 possibly damaging 0.08 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs536431393 6p21.33 6 31412000G> A null V M 126 126 2.0E-4 missense 0.264 benign 0.2 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1430182925 6p21.33 6 31412004C> T null T I 127 127 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs755047324 6p21.33 6 31412009A> G null R G 129 129 missense 0.413 benign 0.09 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs778882093 6p21.33 6 31412012G> A null A T 130 130 missense 0.999 probably damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs386699191 6p21.33 6 31412017_31412018in v null S G 132 132 missense 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs1131898 6p21.33 6 31412018A> G null S G 132 132 0.364 missense 0.0 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41546915 6p21.33 6 31412025A> G null Y C 134 134 5.99E-4 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1271595816 6p21.33 6 31412028C> A null P H 135 135 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs775138518 6p21.33 6 31412031G> A null R Q 136 136 missense 0.003 benign 0.43 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs1051798 6p21.33 6 31412030C> T null R W 136 136 0.364 missense 0.0 benign 0.07 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC rs762541518 6p21.33 6 31412034A> T null N I 137 137 missense 0.938 probably damaging 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC rs762541518 6p21.33 6 31412034A> G null N S 137 137 missense 0.249 benign 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC rs768160048 6p21.33 6 31412037T> C null I T 138 138 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs1140700 6p21.33 6 31412040T> A null I K 139 139 0.4175 missense 0.062 benign 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1252810433 6p21.33 6 31412039A> C null I L 139 139 missense 0.015 benign 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1257396624 6p21.33 6 31412041A> G null I M 139 139 missense 0.382 benign 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1140700 6p21.33 6 31412040T> C null I T 139 139 0.4175 missense 0.0 benign 0.47 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1191051008 6p21.33 6 31412043T> C null L P 140 140 missense 0.998 probably damaging 0.05 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs761352626 6p21.33 6 31412042C> G null L V 140 140 missense 0.791 possibly damaging 0.49 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs1051799 6p21.33 6 31412046C> A null T N 141 141 0.364 missense 0.023 benign 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs1051799 6p21.33 6 31412046C> G null T S 141 141 0.364 missense 0.015 benign 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1450365983 6p21.33 6 31412050G> C null W C 142 142 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs761040624 6p21.33 6 31412051C> T null R C 143 143 missense 0.099 benign 0.16 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs766687346 6p21.33 6 31412052G> A null R H 143 143 missense 0.948 probably damaging 0.46 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs754045239 6p21.33 6 31412057G> C null D H 145 145 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs754045239 6p21.33 6 31412057G> A null D N 145 145 missense 0.999 probably damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1384102922 6p21.33 6 31412060G> C null G R 146 146 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs574970221 6p21.33 6 31412064T> C null V A 147 147 2.0E-4 missense 0.335 benign 0.52 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs574970221 6p21.33 6 31412064T> A null V E 147 147 2.0E-4 missense 0.017 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41540613 6p21.33 6 31412063G> C null V L 147 147 0.01298 missense 0.043 benign 0.18 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1235831939 6p21.33 6 31412079A> G null D G 152 152 missense 0.466 possibly damaging 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs542426798 6p21.33 6 31412078G> A null D N 152 152 3.99E-4 missense 0.012 benign 0.12 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs17200344 6p21.33 6 31412084C> G null Q E 154 154 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs781219985 6p21.33 6 31412088A> G null Q R 155 155 missense 0.011 benign 0.09 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs72558175 6p21.33 6 31412091G> T null W L 156 156 9.98E-4 missense 0.687 possibly damaging 0.65 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs72558175 6p21.33 6 31412091G> C null W S 156 156 9.98E-4 missense 0.097 benign 0.55 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1465390089 6p21.33 6 31412094G> A null G E 157 157 missense 0.095 benign 0.14 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1465390089 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31412094G> T null G V 157 157 missense 0.941 probably damaging 0.07 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs749152285 6p21.33 6 31412096G> C null D H 158 158 missense 0.907 possibly damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs749152285 6p21.33 6 31412096G> A null D N 158 158 missense 0.327 benign 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1251297198 6p21.33 6 31412100T> G null V G 159 159 missense 0.966 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1434715127 6p21.33 6 31412108G> T null D Y 162 162 missense 1.0 probably damaging 0.53 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1199373713 6p21.33 6 31412112G> A null G E 163 163 missense 0.012 benign 0.24 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1161268424 6p21.33 6 31412118G> A null G E 165 165 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs747641299 6p21.33 6 31412124A> G null Y C 167 167 missense 0.999 probably damaging 0.1 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1460407434 6p21.33 6 31412123T> C null Y H 167 167 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs771582156 6p21.33 6 31412126C> A null Q K 168 168 missense 0.25 benign 0.08 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1386966909 6p21.33 6 31412130C> T null T I 169 169 missense 1.0 probably damaging 0.04 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1386966909 6p21.33 6 31412130C> A null T N 169 169 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs773671233 6p21.33 6 31412134G> A null W * 170 170 stop gained 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1360840387 6p21.33 6 31412138G> T null A S 172 172 missense 0.707 possibly damaging 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs766959751 6p21.33 6 31412150T> C null C R 176 176 missense 0.003 benign 0.33 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1270511810 6p21.33 6 31412151G> A null C Y 176 176 missense 0.712 possibly damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41554616 6p21.33 6 31412153C> T null R * 177 177 0.01578 stop gained 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41554616 6p21.33 6 31412153C> G null R G 177 177 0.01578 missense 0.219 benign 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1063635 6p21.33 6 31412154G> A null R Q 177 177 0.4167 missense 0.001 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs765546742 6p21.33 6 31412163A> C null E A 180 180 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs765546742 6p21.33 6 31412163A> G null E G 180 180 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1249630212 6p21.33 6 31412169G> A null R K 182 182 missense 0.025 benign 0.13 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41557614 6p21.33 6 31412170G> T null R S 182 182 0.001398 missense 0.531 possibly damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs758488656 6p21.33 6 31412172T> C null F S 183 183 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1162230694 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.33 6 31412179C> A null C * 185 185 stop gained 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1458153311 6p21.33 6 31412184T> A null M K 187 187 missense 0.931 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1351083786 6p21.33 6 31412183A> G null M V 187 187 missense 0.007 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ESP,ExAC,TOPMed,gnomAD rs377047105 6p21.33 6 31412195G> A null G R 191 191 missense 0.332 benign 0.08 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs949103320 6p21.33 6 31412201C> G null H D 193 193 missense 0.517 possibly damaging 0.01 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1280204065 6p21.33 6 31412202A> G null H R 193 193 missense 0.324 benign 0.05 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs61759927 6p21.33 6 31412204A> G null S G 194 194 missense 0.006 benign 0.11 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs749031460 6p21.33 6 31412208C> T null T I 195 195 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41553616 6p21.33 6 31412213C> G null P A 197 197 0.01537 missense 0.358 benign 0.21 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs778476996 6p21.33 6 31412214C> G null P R 197 197 missense 0.963 probably damaging 0.02 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed,gnomAD rs1250907016 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31412220C> T null P L 199 199 missense 1.0 probably damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs775972045 6p21.33 6 31412331T> C null V A 203 203 missense 0.012 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1318659802 6p21.33 6 31412330G> A null V M 203 203 missense 0.847 possibly damaging 0.11 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs372677694 6p21.33 6 31412336G> A null V M 205 205 3.99E-4 missense 0.945 probably damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1346884983 6p21.33 6 31412345A> G null S G 208 208 missense 0.795 possibly damaging 0.05 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1217220852 6p21.33 6 31412346G> A null S N 208 208 missense 0.81 possibly damaging 0.1 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,gnomAD rs553060235 6p21.33 6 31412348C> T null H Y 209 209 2.0E-4 missense 0.18 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1214983287 6p21.33 6 31412353G> A null W * 210 210 stop gained 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1258038232 6p21.33 6 31412351T> G null W G 210 210 missense 0.555 possibly damaging 0.0 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs767638328 6p21.33 6 31412364A> G null H R 214 214 missense 0.065 benign 0.37 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs201198334 6p21.33 6 31412369T> G null S A 216 216 missense 0.006 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs199843678 6p21.33 6 31412376T> C null V A 218 218 missense 0.0 benign 0.38 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC rs759449533 6p21.33 6 31412375G> T null V F 218 218 missense 0.282 benign 0.12 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A dbSNP rs41293539 6p21.33 6 31412384_31412385insCTGCTGCTGC T null A null 220 220 frameshift 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A dbSNP rs41293539 6p21.33 6 31412384_31412385insC T null A null 220 220 frameshift 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A dbSNP rs138201170 6p21.33 6 31412381_31412384GCTG[1 ] null G null 221 221 frameshift 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs879119541 6p21.33 6 31412385G> C null G A 221 221 missense 0.039 benign 1.0 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1386560148 6p21.33 6 31412387T> C null C R 222 222 missense 0.14 benign 0.06 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs869101911 6p21.33 6 31412389C> G null C W 222 222 missense 0.709 possibly damaging 0.03 deleterious 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1321500864 6p21.33 6 31412394A> G null Y C 224 224 missense 0.709 possibly damaging 0.12 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A gnomAD rs1434548755 6p21.33 6 31412397T> G null F C 225 225 missense 0.0 benign 0.16 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC rs752484557 6p21.33 6 31412396T> C null F L 225 225 missense 0.009 benign 0.38 tolerated 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs758248388 6p21.33 6 31412405T> G null Y D 228 228 missense 0.096 benign 0.0 deleterious - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A TOPMed rs1395927036 6p21.33 6 31412411T> G null F V 230 230 missense 0.001 benign 0.25 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs41559920 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31412414C> A null L I 231 231 missense 0.113 benign 0.16 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A Ensembl rs41559920 6p21.33 6 31412414C> G null L V 231 231 missense 0.02 benign 0.06 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,gnomAD rs41554412 6p21.33 6 31412417T> C null C R 232 232 0.2528 missense 0.935 probably damaging 0.38 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs41554412 [UniProt]: allele MICA*002, allele MICA*011, allele MICA*020, allele MICA*041, allele MICA*043, allele MICA*046, allele MICA*047, allele MICA*050 and allele MICA*052 6p21.33 6 31412417T> A null C S 232 232 0.2528 missense 0.876 possibly damaging 0.22 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,TOPMed,gnomAD rs72558178 6p21.33 6 31412418G> A null C Y 232 232 missense 0.935 probably damaging 0.05 tolerated - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61738275 6p21.33 6 31412421C> T null P L 233 233 0.2696 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A024RCL3 MICA MHC class I polypeptide-related sequence A ExAC,gnomAD rs75417713 6p21.33 6 31412428G> T null L F 235 235 missense 0.067 benign 0.07 tolerated - low confidence 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1319149092 6p22.1 6 28271926A> G null T A 3 3 missense 0.005 benign 0.16 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1334683237 6p22.1 6 28271934G> C null L F 5 5 missense 0.023 benign 0.7 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561873976 6p22.1 6 28271935G> T null V L 6 6 missense 0.009 benign 0.34 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561873976 6p22.1 6 28271935G> C null V L 6 6 missense 0.009 benign 0.34 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs896465645 6p22.1 6 28271942C> T null A V 8 8 missense 0.012 benign 0.95 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1356948986 6p22.1 6 28271948C> A null S Y 10 10 missense 0.876 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1273703535 6p22.1 6 28271959C> G null L V 14 14 missense 0.121 benign 0.29 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1365115805 6p22.1 6 28271962A> C null N H 15 15 missense 0.932 probably damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76463649 6p22.1 6 28271963A> G null N S 15 15 0.05132 missense 0.424 benign 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs773854446 6p22.1 6 28271972A> G null K R 18 18 missense 0.999 probably damaging 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1226330246 6p22.1 6 28271984G> A null R Q 22 22 missense 0.001 benign 0.42 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1472451396 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28271983C> T null R W 22 22 missense 0.585 possibly damaging 0.19 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1270008484 6p22.1 6 28271986G> A null V I 23 23 missense 0.011 benign 0.58 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1342679600 6p22.1 6 28271993G> C null R T 25 25 missense 0.311 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1465264735 6p22.1 6 28271996A> G null E G 26 26 missense 0.036 benign 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1482360739 6p22.1 6 28272005A> G null Y C 29 29 missense 0.001 benign 0.19 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1021513786 6p22.1 6 28272019C> T null Q * 34 34 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes rs191270314 6p22.1 6 28272020A> G null Q R 34 34 missense 0.003 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1329825849 6p22.1 6 28272037G> A null G R 40 40 missense 0.022 benign 0.1 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1483921628 6p22.1 6 28272041A> G null N S 41 41 missense 0.01 benign 0.88 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1269904774 6p22.1 6 28272052C> T null L F 45 45 missense 0.047 benign 0.65 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1430178770 6p22.1 6 28272053T> G null L R 45 45 missense 0.819 possibly damaging 0.3 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs772386690 6p22.1 6 28272059A> G null Q R 47 47 missense 0.544 possibly damaging 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs773589771 6p22.1 6 28272064C> T null P S 49 49 missense 0.242 benign 0.1 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1414889825 6p22.1 6 28272067T> A null L M 50 50 missense 0.976 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs761111611 6p22.1 6 28272068T> C null L S 50 50 missense 0.93 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs761111611 6p22.1 6 28272068T> G null L W 50 50 missense 0.992 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1191121043 6p22.1 6 28272076C> G null Q E 53 53 missense 0.306 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1437910002 6p22.1 6 28272078A> T null Q H 53 53 missense 0.862 possibly damaging 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs563307562 6p22.1 6 28272080T> A null F Y 54 54 3.99E-4 missense 0.631 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs574074069 6p22.1 6 28272090G> T null L F 57 57 2.0E-4 missense 0.919 probably damaging 0.78 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs369207761 6p22.1 6 28272091C> T null R C 58 58 missense 0.018 benign 0.52 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs543136888 6p22.1 6 28272092G> A null R H 58 58 2.0E-4 missense 0.018 benign 0.05 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs892204811 6p22.1 6 28272096T> G null Y * 59 59 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs892204811 6p22.1 6 28272096T> A null Y * 59 59 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16893892 6p22.1 6 28272095A> G null Y C 59 59 0.07828 missense 0.13 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs16893892 6p22.1 6 28272095A> C null Y S 59 59 0.07828 missense 0.858 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs375716851 6p22.1 6 28272104C> A null T N 62 62 missense 1.0 probably damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1255704499 6p22.1 6 28272115C> T null R * 66 66 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs768841058 6p22.1 6 28272116G> C null R P 66 66 missense 0.791 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs768841058 6p22.1 6 28272116G> A null R Q 66 66 missense 0.034 benign 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1482834474 6p22.1 6 28272120A> T null E D 67 67 missense 0.853 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1269954459 6p22.1 6 28272118G> A null E K 67 67 missense 0.89 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs776538749 6p22.1 6 28272121G> A null A T 68 68 missense 0.999 probably damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1382967879 6p22.1 6 28272128G> A null S N 70 70 missense 0.021 benign 0.69 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs750252089 6p22.1 6 28272130C> G null R G 71 71 missense 0.447 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs779844501 6p22.1 6 28272131G> A null R Q 71 71 missense 0.021 benign 0.51 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs750252089 6p22.1 6 28272130C> T null R W 71 71 missense 0.883 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1412242832 6p22.1 6 28272133C> A null L I 72 72 missense 0.422 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs11965538 6p22.1 6 28272137G> T null R L 73 73 0.1522 missense 0.006 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs11965538 6p22.1 6 28272137G> A null R Q 73 73 0.1522 missense 0.01 benign 0.57 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs749299020 6p22.1 6 28272136C> T null R W 73 73 missense 0.014 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1311532031 6p22.1 6 28272141G> T null E D 74 74 missense 0.52 possibly damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs770232910 6p22.1 6 28272139G> A null E K 74 74 missense 0.037 benign 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1228633845 6p22.1 6 28272142C> A null L I 75 75 missense 0.82 possibly damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs747750846 6p22.1 6 28272148C> A null Q K 77 77 missense 0.007 benign 0.19 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1446941711 6p22.1 6 28272153G> T null Q H 78 78 missense 0.747 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs113269107 6p22.1 6 28272152A> T null Q L 78 78 2.0E-4 missense 0.009 benign 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs113269107 6p22.1 6 28272152A> G null Q R 78 78 2.0E-4 missense 0.009 benign 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs868069968 6p22.1 6 28272154T> G null W G 79 79 missense 0.506 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs74775964 6p22.1 6 28272157C> G null L V 80 80 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747366919 6p22.1 6 28272160C> T null Q * 81 81 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs760126834 6p22.1 6 28272162G> T null Q H 81 81 missense 0.862 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747366919 6p22.1 6 28272160C> A null Q K 81 81 missense 0.207 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs776978602 6p22.1 6 28272161A> C null Q P 81 81 missense 0.806 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs775730777 6p22.1 6 28272164C> G null P R 82 82 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs765187169 6p22.1 6 28272163C> T null P S 82 82 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs765187169 6p22.1 6 28272163C> A null P T 82 82 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11965542 6p22.1 6 28272166G> T null E * 83 83 0.03534 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs755843745 6p22.1 6 28272167A> C null E A 83 83 missense 0.012 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs766238252 6p22.1 6 28272168G> T null E D 83 83 missense 0.012 benign 0.27 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11965542 6p22.1 6 28272166G> A null E K 83 83 0.03534 missense 0.29 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11965542 6p22.1 6 28272166G> C null E Q 83 83 0.03534 missense 0.645 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1313601989 6p22.1 6 28272191T> C null L P 91 91 missense 0.02 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1427190708 6p22.1 6 28272193G> T null E * 92 92 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs778337779 6p22.1 6 28272197T> C null L P 93 93 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs898532505 6p22.1 6 28272209A> G null E G 97 97 missense 0.059 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1396752436 6p22.1 6 28272208G> C null E Q 97 97 missense 0.849 possibly damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs757970390 6p22.1 6 28272215T> C null F S 99 99 missense 0.95 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1453320687 6p22.1 6 28272224T> A null I N 102 102 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1296735608 6p22.1 6 28272229C> T null P S 104 104 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs777388998 6p22.1 6 28272235G> A null E K 106 106 missense 0.389 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs781641665 6p22.1 6 28272244G> T null A S 109 109 missense 0.434 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs550613662 6p22.1 6 28272247C> G null R G 110 110 3.99E-4 missense 0.215 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs770434648 6p22.1 6 28272248G> C null R P 110 110 missense 0.01 benign 0.1 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs770434648 6p22.1 6 28272248G> A null R Q 110 110 missense 0.015 benign 0.32 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs550613662 6p22.1 6 28272247C> T null R W 110 110 3.99E-4 missense 0.006 benign 0.62 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1204868757 6p22.1 6 28272250G> A null V M 111 111 missense 0.726 possibly damaging 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1447195862 6p22.1 6 28272260A> G null H R 114 114 missense 0.009 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1247888029 6p22.1 6 28272259C> T null H Y 114 114 missense 0.525 possibly damaging 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1194691492 6p22.1 6 28272262C> A null H N 115 115 missense 0.408 benign 0.38 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1373332765 6p22.1 6 28272263A> G null H R 115 115 missense 0.404 benign 0.23 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs973247145 6p22.1 6 28272272G> A null S N 118 118 missense 0.036 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs766725810 6p22.1 6 28272275G> A null R K 119 119 missense 0.019 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1477480016 6p22.1 6 28272277G> A null E K 120 120 missense 0.641 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs776209508 6p22.1 6 28272283G> A null V M 122 122 missense 0.018 benign 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs145722921 6p22.1 6 28272314A> T null D V 132 132 0.001198 missense 0.049 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1431937939 6p22.1 6 28272313G> T null D Y 132 132 missense 0.419 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs766041260 6p22.1 6 28272317T> C null L P 133 133 missense 0.031 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1273231589 6p22.1 6 28272319G> A null G R 134 134 missense 0.132 benign 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs180736887 6p22.1 6 28272323A> T null E V 135 135 2.0E-4 missense 0.44 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1478379688 6p22.1 6 28272326C> T null T I 136 136 missense 0.528 possibly damaging 0.05 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs546712749 6p22.1 6 28272328G> A null G R 137 137 2.0E-4 missense 0.854 possibly damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1468282604 6p22.1 6 28272332A> C null Q P 138 138 missense 0.009 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1200942391 6p22.1 6 28272334C> T null Q * 139 139 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs765154187 6p22.1 6 28272335A> G null Q R 139 139 missense 0.003 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes rs565447272 6p22.1 6 28272673C> A null P T 142 142 2.0E-4 missense 0.22 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1405979140 6p22.1 6 28272683C> G null P R 145 145 missense 0.029 benign 0.25 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs781349770 6p22.1 6 28272682C> T null P S 145 145 missense 0.0 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561875056 6p22.1 6 28272685A> G null K E 146 146 missense 0.027 benign 0.98 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373814822 6p22.1 6 28272691C> T null Q * 148 148 3.99E-4 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1055142132 6p22.1 6 28272697A> T null I L 150 150 missense 0.0 benign 0.54 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1288090850 6p22.1 6 28272699A> G null I M 150 150 missense 0.001 benign 0.29 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1055142132 6p22.1 6 28272697A> G null I V 150 150 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1327466681 6p22.1 6 28272700C> T null L F 151 151 missense 0.014 benign 0.7 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs780687737 6p22.1 6 28272704T> C null V A 152 152 missense 0.005 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1229225509 6p22.1 6 28272703G> A null V M 152 152 missense 0.029 benign 0.29 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs749854697 6p22.1 6 28272709G> A null E K 154 154 missense 0.009 benign 0.62 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs768817534 6p22.1 6 28272719C> T null P L 157 157 missense 0.019 benign 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs768817534 6p22.1 6 28272719C> G null P R 157 157 missense 0.658 possibly damaging 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs918001391 6p22.1 6 28272718C> T null P S 157 157 missense 0.048 benign 0.25 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1490404089 6p22.1 6 28272724A> G null K E 159 159 missense 0.003 benign 0.89 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1180939405 6p22.1 6 28272725A> G null K R 159 159 missense 0.003 benign 0.56 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1249385868 6p22.1 6 28272728G> A null G E 160 160 missense 0.047 benign 0.76 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1420582393 6p22.1 6 28272734A> C null Q P 162 162 missense 0.009 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs774513249 6p22.1 6 28272741G> T null Q H 164 164 missense 0.739 possibly damaging 0.16 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1182453748 6p22.1 6 28272744G> T null Q H 165 165 missense 0.724 possibly damaging 0.12 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1367805303 6p22.1 6 28272745G> T null V F 166 166 missense 0.658 possibly damaging 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370023717 6p22.1 6 28272749G> A null R Q 167 167 3.99E-4 missense 0.0 benign 0.81 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187327081 6p22.1 6 28272748C> T null R W 167 167 0.004393 missense 0.471 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1367743417 6p22.1 6 28272754G> A null E K 169 169 missense 0.007 benign 0.43 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs773372053 6p22.1 6 28272757T> C null C R 170 170 missense 0.0 benign 0.36 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1393444678 6p22.1 6 28272773C> T null P L 175 175 missense 0.176 benign 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1308413814 6p22.1 6 28272776A> G null E G 176 176 missense 0.003 benign 0.24 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs375096577 6p22.1 6 28272775G> C null E Q 176 176 missense 0.009 benign 0.48 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs752598872 6p22.1 6 28272786G> T null K N 179 179 missense 0.046 benign 0.31 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs569301192 6p22.1 6 28276195G> A null G D 180 180 5.99E-4 missense 0.076 benign 0.31 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs569301192 6p22.1 6 28276195G> T null G V 180 180 5.99E-4 missense 0.939 probably damaging 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199612523 6p22.1 6 28276201A> G null E G 182 182 2.0E-4 missense 0.014 benign 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs762817558 6p22.1 6 28276204C> A null T K 183 183 missense 0.005 benign 0.22 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs775281774 6p22.1 6 28276203A> T null T S 183 183 missense 0.108 benign 0.55 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1430539981 6p22.1 6 28276207G> C null R T 184 184 missense 0.615 possibly damaging 0.16 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1218300935 6p22.1 6 28276209A> T null I F 185 185 missense 0.413 benign 0.7 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs200703885 6p22.1 6 28276213A> C null E A 186 186 missense 0.011 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,NCI-TCGA,gnomAD rs774216204 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276218G> A null G R 188 188 missense 0.127 benign 0.32 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs189868497 6p22.1 6 28276221A> C null K Q 189 189 3.99E-4 missense 0.736 possibly damaging 0.33 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs568537725 6p22.1 6 28276228T> C null I T 191 191 2.0E-4 missense 0.001 benign 0.33 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1433764176 6p22.1 6 28276234T> A null V E 193 193 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146128238 6p22.1 6 28276246G> C null C S 197 197 2.0E-4 missense 0.003 benign 0.83 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs952614092 6p22.1 6 28276249G> C null G A 198 198 missense 0.423 benign 0.32 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs766792794 6p22.1 6 28276267G> A null G E 204 204 missense 0.02 benign 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs755854753 6p22.1 6 28276266G> T null G W 204 204 missense 0.882 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1473585519 6p22.1 6 28276272A> T null I L 206 206 missense 0.007 benign 0.84 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1168244537 6p22.1 6 28276273T> C null I T 206 206 missense 0.013 benign 0.55 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs553908256 6p22.1 6 28276275T> C null S P 207 207 3.99E-4 missense 0.018 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs577137594 6p22.1 6 28276285T> G null M R 210 210 2.0E-4 missense 0.037 benign 0.57 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs577137594 6p22.1 6 28276285T> C null M T 210 210 2.0E-4 missense 0.0 benign 0.62 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1240457295 6p22.1 6 28276290G> A null A T 212 212 missense 0.007 benign 0.61 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1187340325 6p22.1 6 28276302G> A null G S 216 216 missense 0.015 benign 0.73 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1266922752 6p22.1 6 28276303G> T null G V 216 216 missense 0.007 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs944512250 6p22.1 6 28276317A> G null R G 221 221 missense 0.007 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 dbSNP,gnomAD rs17851075 pubmed:15489334 6p22.1 6 28276319G> T null R S 221 221 missense 0.021 benign 0.25 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747182472 6p22.1 6 28276323C> T null Q * 223 223 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747182472 6p22.1 6 28276323C> G null Q E 223 223 missense 0.087 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs771150743 6p22.1 6 28276329A> C null K Q 225 225 missense 0.021 benign 0.55 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs775197115 6p22.1 6 28276332C> G null P A 226 226 missense 0.024 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs749075793 6p22.1 6 28276333C> A null P H 226 226 missense 0.152 benign 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs774317111 6p22.1 6 28276344A> T null I F 230 230 missense 0.138 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1040507789 6p22.1 6 28276345T> C null I T 230 230 missense 0.0 benign 0.88 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs761691188 6p22.1 6 28276351A> G null Y C 232 232 missense 0.011 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs767007169 6p22.1 6 28276360C> T null S L 235 235 missense 0.399 benign 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1481891438 6p22.1 6 28276359T> C null S P 235 235 missense 0.991 probably damaging 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs539718240 6p22.1 6 28276365C> T null R C 237 237 7.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376872529 6p22.1 6 28276366G> A null R H 237 237 2.0E-4 missense 0.0 benign 0.21 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,TOPMed rs370280420 6p22.1 6 28276379C> G null F L 241 241 missense 0.358 benign 0.22 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs766126680 6p22.1 6 28276380A> T null I F 242 242 missense 0.001 benign 0.33 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs755346099 6p22.1 6 28276382C> G null I M 242 242 missense 0.006 benign 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs766126680 6p22.1 6 28276380A> G null I V 242 242 missense 0.001 benign 0.47 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs765558461 6p22.1 6 28276384A> G null Q R 243 243 missense 0.011 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs753207556 6p22.1 6 28276388C> G null H Q 244 244 missense 0.007 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1270093146 6p22.1 6 28276396T> G null L R 247 247 missense 0.945 probably damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1472431391 6p22.1 6 28276399T> C null I T 248 248 missense 0.003 benign 0.84 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs758848192 6p22.1 6 28276408C> A null A E 251 251 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1410788849 6p22.1 6 28276410A> G null S G 252 252 missense 0.001 benign 0.48 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs777847322 6p22.1 6 28276411G> A null S N 252 252 missense 0.005 benign 0.27 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,TOPMed,gnomAD rs374449641 6p22.1 6 28276416C> T null H Y 254 254 missense 0.041 benign 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs779221996 6p22.1 6 28276420C> T null T M 255 255 missense 0.015 benign 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,gnomAD rs368592837 6p22.1 6 28276427G> T null K N 257 257 missense 0.085 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs746130804 6p22.1 6 28276429A> C null K T 258 258 missense 0.877 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1373924685 6p22.1 6 28276434T> G null C G 260 260 missense 0.011 benign 0.27 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs569619601 6p22.1 6 28276437G> T null E * 261 261 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs569619601 6p22.1 6 28276437G> A null E K 261 261 missense 0.031 benign 0.59 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs778598171 6p22.1 6 28276446G> A null V M 264 264 missense 0.459 possibly damaging 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1049068112 6p22.1 6 28276450G> A null C Y 265 265 missense 0.007 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1178502424 6p22.1 6 28276452C> T null Q * 266 266 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561877947 6p22.1 6 28276459C> T null S F 268 268 missense 0.787 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs771907693 6p22.1 6 28276461A> C null S R 269 269 missense 0.012 benign 0.57 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1482967681 6p22.1 6 28276467A> G null T A 271 271 missense 0.135 benign 0.54 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs746385615 6p22.1 6 28276468C> T null T I 271 271 missense 0.012 benign 0.55 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs770612647 6p22.1 6 28276471G> A null G E 272 272 missense 0.037 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs770612647 6p22.1 6 28276471G> T null G V 272 272 missense 0.543 possibly damaging 0.27 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1261429772 6p22.1 6 28276474A> G null H R 273 273 missense 0.003 benign 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1181743009 6p22.1 6 28276473C> T null H Y 273 273 missense 0.454 possibly damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs776390277 6p22.1 6 28276479A> G null K E 275 275 missense 0.073 benign 0.3 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1163889892 6p22.1 6 28276482G> T null V F 276 276 missense 0.361 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561878044 6p22.1 6 28276489C> T null S F 278 278 missense 0.642 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs759142165 6p22.1 6 28276492G> T null R I 279 279 missense 0.622 possibly damaging 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1056414076 6p22.1 6 28276496G> C null E D 280 280 missense 0.003 benign 0.2 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs765588169 6p22.1 6 28276501G> A null G D 282 282 missense 0.159 benign 0.06 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs765588169 6p22.1 6 28276501G> T null G V 282 282 missense 0.159 benign 0.14 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1354850025 6p22.1 6 28276503C> G null H D 283 283 missense 0.915 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs907404144 6p22.1 6 28276509T> C null C R 285 285 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs764578564 6p22.1 6 28276513A> T null H L 286 286 missense 0.005 benign 0.33 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1312747183 6p22.1 6 28276512C> A null H N 286 286 missense 0.139 benign 0.67 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs764578564 6p22.1 6 28276513A> G null H R 286 286 missense 0.139 benign 0.38 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs752116217 6p22.1 6 28276515G> A null E K 287 287 missense 0.616 possibly damaging 0.05 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1272679128 6p22.1 6 28276519G> A null C Y 288 288 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs772381255 6p22.1 6 28276525A> G null K R 290 290 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs947540640 6p22.1 6 28276528C> G null A G 291 291 missense 0.447 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1484160993 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p22.1 6 28276533C> T null Q * 293 293 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs757299852 6p22.1 6 28276535G> C null Q H 293 293 missense 0.952 probably damaging 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1338950214 6p22.1 6 28276534A> G null Q R 293 293 missense 0.073 benign 0.36 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1275582262 6p22.1 6 28276537G> A null R K 294 294 missense 0.991 probably damaging 0.32 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1275582262 6p22.1 6 28276537G> T null R M 294 294 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1289034206 6p22.1 6 28276538G> C null R S 294 294 missense 0.999 probably damaging 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs750598932 6p22.1 6 28276545C> T null H Y 297 297 missense 0.998 probably damaging 0.34 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs368346312 6p22.1 6 28276551G> A null V I 299 299 missense 0.047 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747892291 6p22.1 6 28276555G> T null R I 300 300 missense 0.999 probably damaging 0.17 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs747892291 6p22.1 6 28276555G> C null R T 300 300 missense 0.999 probably damaging 0.09 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1185830247 6p22.1 6 28276560C> T null Q * 302 302 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1389217837 6p22.1 6 28276563A> G null K E 303 303 missense 0.869 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1442166284 6p22.1 6 28276570A> T null H L 305 305 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs547687161 6p22.1 6 28276584C> G null P A 310 310 missense 0.506 possibly damaging 0.3 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs547687161 6p22.1 6 28276584C> A null P T 310 310 missense 0.864 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1419968924 6p22.1 6 28276588A> G null Y C 311 311 missense 1.0 probably damaging 0.23 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs777833357 6p22.1 6 28276594G> A null C Y 313 313 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs746981982 6p22.1 6 28276611G> A null V I 319 319 missense 0.872 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs902930746 6p22.1 6 28276629G> A null G S 325 325 missense 1.0 probably damaging 0.22 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1360021158 6p22.1 6 28276636T> C null L S 327 327 missense 0.98 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1256873588 6p22.1 6 28276638G> A null E K 328 328 missense 0.999 probably damaging 0.32 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,TOPMed rs180863059 6p22.1 6 28276642A> G null H R 329 329 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1223252887 6p22.1 6 28276652T> G null I M 332 332 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1021998871 6p22.1 6 28276650A> G null I V 332 332 missense 0.997 probably damaging 0.05 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1261889900 6p22.1 6 28276668C> A null P T 338 338 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1326263902 6p22.1 6 28276672A> T null Y F 339 339 missense 0.998 probably damaging 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1444738172 6p22.1 6 28276677T> G null C G 341 341 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1444738172 6p22.1 6 28276677T> C null C R 341 341 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1477596965 6p22.1 6 28276698T> C null F L 348 348 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs541804397 6p22.1 6 28276700T> G null F L 348 348 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1431427935 6p22.1 6 28276704C> T null R C 350 350 missense 0.81 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs769331933 6p22.1 6 28276705G> A null R H 350 350 missense 0.995 probably damaging 0.36 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1158243219 6p22.1 6 28276711C> T null S F 352 352 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs775277786 6p22.1 6 28276722C> T null R * 356 356 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1380586793 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276723G> A null R Q 356 356 missense 0.998 probably damaging 0.18 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1393557337 6p22.1 6 28276726A> C null H P 357 357 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1320582740 6p22.1 6 28276725C> T null H Y 357 357 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs763210427 6p22.1 6 28276728C> G null Q E 358 358 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,gnomAD rs186064877 6p22.1 6 28276732G> T null R I 359 359 2.0E-4 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,gnomAD rs186064877 6p22.1 6 28276732G> A null R K 359 359 2.0E-4 missense 0.338 benign 0.15 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs762334316 6p22.1 6 28276743C> T null Q * 363 363 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs750473713 6p22.1 6 28276753C> T null P L 366 366 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1490079998 6p22.1 6 28276762G> T null C F 369 369 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs766499284 6p22.1 6 28276771G> A null C Y 372 372 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs754141333 6p22.1 6 28276776A> G null K E 374 374 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs572064531 6p22.1 6 28276777A> G null K R 374 374 3.99E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1361968542 6p22.1 6 28276780C> G null T S 375 375 missense 0.854 possibly damaging 0.13 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1160361770 6p22.1 6 28276789A> G null Q R 378 378 missense 0.996 probably damaging 0.3 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1040705439 6p22.1 6 28276792C> G null A G 379 379 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs757273930 6p22.1 6 28276798T> G null L R 381 381 missense 0.951 probably damaging 0.35 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs559424010 6p22.1 6 28276800C> T null L F 382 382 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1554136247 6p22.1 6 28276807A> C null H P 384 384 missense 0.999 probably damaging 0.3 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1306962810 6p22.1 6 28276810A> G null H R 385 385 missense 0.822 possibly damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1223357353 6p22.1 6 28276809C> T null H Y 385 385 missense 0.952 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1334503478 6p22.1 6 28276812C> T null Q * 386 386 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1240633472 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276818A> C null I L 388 388 missense 0.011 benign 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1291951498 6p22.1 6 28276819T> A null I N 388 388 missense 0.655 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs780777946 6p22.1 6 28276821C> T null H Y 389 389 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,TOPMed,gnomAD rs540882490 6p22.1 6 28276827C> T null H Y 391 391 2.0E-4 missense 0.936 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs749003843 6p22.1 6 28276831C> T null S F 392 392 missense 0.952 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs774981495 6p22.1 6 28276830T> C null S P 392 392 missense 0.915 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1195010250 6p22.1 6 28276833A> G null K E 393 393 missense 0.294 benign 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1337921270 6p22.1 6 28276840A> G null H R 395 395 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1277136348 6p22.1 6 28276843A> G null Q R 396 396 missense 0.018 benign 0.44 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs754428219 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276850C> A null N K 398 398 missense 0.87 possibly damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs533137539 6p22.1 6 28276851G> A null E K 399 399 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1161957745 6p22.1 6 28276856T> A null C * 400 400 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1445210559 6p22.1 6 28276855G> T null C F 400 400 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs768008002 6p22.1 6 28276854T> G null C G 400 400 missense 0.999 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs748384015 6p22.1 6 28276874G> T null L F 406 406 missense 1.0 probably damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs748384015 6p22.1 6 28276874G> C null L F 406 406 missense 1.0 probably damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP rs371968394 6p22.1 6 28276884C> T null L F 410 410 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs760650910 6p22.1 6 28276888T> C null I T 411 411 missense 0.202 benign 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1458796800 6p22.1 6 28276890C> T null R * 412 412 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1297950437 6p22.1 6 28276891G> A null R Q 412 412 missense 0.998 probably damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1397737124 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28276894A> T null H L 413 413 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC rs766522512 6p22.1 6 28276893C> T null H Y 413 413 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs753965503 6p22.1 6 28276897A> G null H R 414 414 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1393648227 6p22.1 6 28276900G> C null R T 415 415 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1330091762 6p22.1 6 28276905C> G null H D 417 417 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1380546768 6p22.1 6 28276906A> G null H R 417 417 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1316803559 6p22.1 6 28276912G> A null G E 419 419 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs780546859 6p22.1 6 28276911G> A null G R 419 419 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1359698133 6p22.1 6 28276925C> G null F L 423 423 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs763923028 6p22.1 6 28276926A> C null K Q 424 424 missense 0.544 possibly damaging 0.41 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1249410430 6p22.1 6 28276937A> G null I M 427 427 missense 0.915 probably damaging 0.07 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1481470583 6p22.1 6 28276938T> C null C R 428 428 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs888320862 6p22.1 6 28276939G> C null C S 428 428 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs888320862 6p22.1 6 28276939G> A null C Y 428 428 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1242430140 6p22.1 6 28276948C> T null A V 431 431 missense 0.959 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs757181763 6p22.1 6 28276953C> T null R * 433 433 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs375309268 6p22.1 6 28276954G> A null R Q 433 433 missense 0.991 probably damaging 0.12 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1016379009 6p22.1 6 28276960A> G null N S 435 435 missense 0.999 probably damaging 0.65 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs779641149 6p22.1 6 28276965C> T null H Y 437 437 missense 0.998 probably damaging 0.11 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs748885770 6p22.1 6 28276968C> G null L V 438 438 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs972112881 6p22.1 6 28276974C> T null Q * 440 440 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs972112881 6p22.1 6 28276974C> G null Q E 440 440 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs537254525 6p22.1 6 28276979T> G null H Q 441 441 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1405993380 6p22.1 6 28276978A> G null H R 441 441 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs960276641 6p22.1 6 28276986A> G null I V 444 444 missense 0.997 probably damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs991796657 6p22.1 6 28276989C> T null H Y 445 445 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs916143982 6p22.1 6 28276993A> T null N I 446 446 missense 0.847 possibly damaging 0.01 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1381335277 6p22.1 6 28276998G> T null E * 448 448 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1381335277 6p22.1 6 28276998G> C null E Q 448 448 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Ensembl rs1561879457 6p22.1 6 28277005C> T null P L 450 450 missense 0.841 possibly damaging 0.02 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs771309593 6p22.1 6 28277008A> G null Y C 451 451 missense 0.977 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs909249453 6p22.1 6 28277010C> G null Q E 452 452 missense 0.0 benign 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1292938543 6p22.1 6 28277011A> G null Q R 452 452 missense 0.023 benign 0.4 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1309089563 6p22.1 6 28277017G> C null S T 454 454 missense 0.062 benign 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs774057290 6p22.1 6 28277019G> C null E Q 455 455 missense 0.003 benign 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1262505908 6p22.1 6 28277026G> A null G E 457 457 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1321318811 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p22.1 6 28277028G> A null E K 458 458 missense 0.779 possibly damaging 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs371333289 6p22.1 6 28277032C> G null A G 459 459 missense 0.901 possibly damaging 0.03 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs748499677 6p22.1 6 28277031G> A null A T 459 459 missense 0.955 probably damaging 0.08 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed rs1172047395 6p22.1 6 28277034T> G null F V 460 460 missense 0.978 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 1000Genomes,ExAC,gnomAD rs116288753 6p22.1 6 28277044G> A null R K 463 463 2.0E-4 missense 0.019 benign 0.28 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,TOPMed,gnomAD rs769518702 6p22.1 6 28277046T> C null S P 464 464 missense 0.972 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ESP,ExAC,TOPMed,gnomAD rs376665599 6p22.1 6 28277050G> A null G D 465 465 missense 1.0 probably damaging 0.76 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 TOPMed,gnomAD rs1171820047 6p22.1 6 28277059A> G null Q R 468 468 missense 0.998 probably damaging 1.0 tolerated 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs1468705980 6p22.1 6 28277061C> T null H Y 469 469 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs776785015 6p22.1 6 28277064C> T null Q * 470 470 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 gnomAD rs529692636 6p22.1 6 28277069A> T null R S 471 471 missense 0.842 possibly damaging 0.04 deleterious 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs758411154 6p22.1 6 28277071du p null Y * 472 472 stop gained 0 A0A024RCN4 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 ExAC,gnomAD rs765548403 6p22.1 6 28277091G> A null A T 479 479 missense 0.89 possibly damaging 0.0 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs867437797 6p21.33 6 31740474C> T null S F 3 3 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs867437797 6p21.33 6 31740474C> A null S Y 3 3 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1400253745 6p21.33 6 31740477T> C null L S 4 4 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1365883110 6p21.33 6 31740479G> C null G R 5 5 missense 0.001 benign 0.41 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1365883110 6p21.33 6 31740479G> A null G R 5 5 missense 0.001 benign 0.41 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1284389608 6p21.33 6 31740492G> A null R K 9 9 missense 0.003 benign 0.19 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1328721732 6p21.33 6 31740494A> G null R G 10 10 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,TOPMed rs543053495 6p21.33 6 31740497A> T null T S 11 11 2.0E-4 missense 0.037 benign 0.11 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs746002203 6p21.33 6 31740507G> A null G E 14 14 missense 0.025 benign 0.11 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1244931634 6p21.33 6 31740513G> T null R I 16 16 missense 0.001 benign 0.08 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1489451150 6p21.33 6 31740518G> A null G R 18 18 missense 0.0 benign 0.85 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866226534 6p21.33 6 31740522C> A null A E 19 19 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1199842222 6p21.33 6 31740521G> A null A T 19 19 missense 0.015 benign 0.34 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866226534 6p21.33 6 31740522C> T null A V 19 19 missense 0.0 benign 0.43 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs761833682 6p21.33 6 31740527T> G null S A 21 21 missense 0.0 benign 0.82 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs200570010 6p21.33 6 31740528C> T null S F 21 21 5.99E-4 missense 0.082 benign 0.04 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1407988417 6p21.33 6 31740531C> A null S Y 22 22 missense 0.014 benign 0.02 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1323423768 6p21.33 6 31740534G> A null G D 23 23 missense 0.015 benign 0.58 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1404277828 6p21.33 6 31740533G> C null G R 23 23 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs773181036 6p21.33 6 31740538C> G null F L 24 24 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs760382710 6p21.33 6 31740540C> T null P L 25 25 missense 0.05 benign 0.02 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs766196782 6p21.33 6 31740543G> T null S I 26 26 missense 0.001 benign 0.09 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1350316138 6p21.33 6 31740544C> A null S R 26 26 missense 0.16 benign 0.19 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1408171782 6p21.33 6 31740548G> A null A T 28 28 missense 0.001 benign 0.62 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2075789 6p21.33 6 31740551C> T null P S 29 29 0.1018 missense 0.001 benign 0.05 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1242257989 6p21.33 6 31740554G> A null V M 30 30 missense 0.006 benign 0.18 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs764819567 6p21.33 6 31740558C> T null P L 31 31 missense 0.001 benign 0.7 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs764819567 6p21.33 6 31740558C> A null P Q 31 31 missense 0.003 benign 0.62 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1399705967 6p21.33 6 31740575G> A null E K 37 37 missense 0.109 benign 0.71 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1018466417 6p21.33 6 31740578G> A null E K 38 38 missense 0.037 benign 0.47 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs962405041 6p21.33 6 31740584G> A null E K 40 40 missense 0.047 benign 0.43 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,gnomAD rs559101088 6p21.33 6 31740593G> T null E * 43 43 2.0E-4 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1250720922 6p21.33 6 31740600A> G null E G 45 45 missense 0.037 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1481951458 6p21.33 6 31740604_31740605insGAGTA G null E E* 46 47 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1392009363 6p21.33 6 31740602G> A null E K 46 46 missense 0.075 benign 0.53 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1456552413 6p21.33 6 31740606T> C null L P 47 47 missense 0.0 benign 0.31 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1472291367 6p21.33 6 31740613G> T null E D 49 49 missense 0.075 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs760617988 6p21.33 6 31741167A> G null H R 51 51 missense 0.075 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1444725613 6p21.33 6 31741170T> A null L Q 52 52 missense 0.49 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776092248 6p21.33 6 31741175G> A null V M 54 54 missense 0.142 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1262863691 6p21.33 6 31741181T> G null W G 56 56 missense 0.003 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1170000008 6p21.33 6 31741199G> C null G R 62 62 missense 0.902 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs764619072 6p21.33 6 31741202A> G null I V 63 63 missense 0.0 benign 0.65 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752295911 6p21.33 6 31741209A> G null Y C 65 65 missense 0.939 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758885613 6p21.33 6 31741212A> G null Y C 66 66 missense 0.939 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1209413151 6p21.33 6 31741221G> A null S N 69 69 missense 0.005 benign 0.52 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs757557635 6p21.33 6 31741226T> A null S T 71 71 missense 0.157 benign 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs781635576 6p21.33 6 31741232A> G null I V 73 73 missense 0.003 benign 0.49 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs779976920 6p21.33 6 31741261C> G null H Q 82 82 missense 0.007 benign 0.62 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1264654777 6p21.33 6 31741262G> A null E K 83 83 missense 0.007 benign 0.36 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1417449468 6p21.33 6 31741266G> A null S N 84 84 missense 0.001 benign 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28381349 6p21.33 6 31741268C> T null L F 85 85 0.03255 missense 0.147 benign 0.36 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs772135212 6p21.33 6 31741271A> G null K E 86 86 missense 0.003 benign 0.61 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1427241995 6p21.33 6 31741273G> C null K N 86 86 missense 0.075 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1245736608 6p21.33 6 31741272A> G null K R 86 86 missense 0.006 benign 0.4 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1477922821 6p21.33 6 31741277C> T null L F 88 88 missense 0.957 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746959342 6p21.33 6 31741281A> G null Q R 89 89 missense 0.001 benign 0.25 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1475168724 6p21.33 6 31742879C> G null L V 92 92 missense 0.013 benign 0.31 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs762338344 6p21.33 6 31742897C> T null Q * 98 98 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1003771751 6p21.33 6 31742901C> A null S Y 99 99 missense 0.006 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs889291350 6p21.33 6 31742903G> A null V I 100 100 missense 0.003 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs889291350 6p21.33 6 31742903G> C null V L 100 100 missense 0.007 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,TOPMed,gnomAD rs767743499 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31742910C> T null T M 102 102 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1274108728 6p21.33 6 31742913G> C null S T 103 103 missense 0.107 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs989240192 6p21.33 6 31742922A> G null Q R 106 106 missense 0.785 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1408766372 6p21.33 6 31742925A> G null D G 107 107 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1408766372 6p21.33 6 31742925A> T null D V 107 107 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs756277944 6p21.33 6 31742927G> A null E K 108 108 missense 0.546 possibly damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754120062 6p21.33 6 31742935G> A null M I 110 110 missense 0.039 benign 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780394457 6p21.33 6 31742933A> G null M V 110 110 missense 0.069 benign 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1025328818 cosmic curated [Cosmic]: kidney pubmed:23797736,cosmic_study:494 6p21.33 6 31742939C> T null R * 112 112 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,TOPMed,gnomAD rs755055223 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31742940G> A null R Q 112 112 missense 0.001 benign 0.59 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754068882 6p21.33 6 31743113C> A null Q K 120 120 missense 0.012 benign 0.7 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs755286122 cosmic curated [Cosmic]: urinary_tract cosmic_study:581 6p21.33 6 31743114A> G null Q R 120 120 missense 0.001 benign 0.4 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765382400 6p21.33 6 31743116G> A null E K 121 121 missense 0.108 benign 0.3 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs752877507 6p21.33 6 31743119C> G null H D 122 122 missense 0.001 benign 0.78 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1425500131 6p21.33 6 31743121C> G null H Q 122 122 missense 0.066 benign 0.57 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs867446497 6p21.33 6 31743125G> A null E K 124 124 missense 0.001 benign 0.65 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs757134162 6p21.33 6 31743129C> G null P R 125 125 missense 0.055 benign 0.49 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1420944568 6p21.33 6 31743131A> G null K E 126 126 missense 0.001 benign 0.9 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1480276752 6p21.33 6 31743135G> C null R T 127 127 missense 0.003 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1403219350 6p21.33 6 31743138C> G null P R 128 128 missense 0.966 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745804757 6p21.33 6 31743143A> G null I V 130 130 missense 0.003 benign 0.58 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs546320539 6p21.33 6 31743146A> G null I V 131 131 5.99E-4 missense 0.001 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs906559667 6p21.33 6 31743159G> A null S N 135 135 missense 0.023 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1293804623 6p21.33 6 31743162T> C null V A 136 136 missense 0.608 possibly damaging 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1410526308 6p21.33 6 31743921C> A null Q K 145 145 missense 0.491 possibly damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs141863919 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31743924C> T null R C 146 146 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,TOPMed,gnomAD rs778472555 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31743925G> A null R H 146 146 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs965034637 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31743934C> T null S F 149 149 missense 0.724 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1347431600 6p21.33 6 31743936G> A null G R 150 150 missense 0.023 benign 0.38 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs951767819 6p21.33 6 31743951A> C null I L 155 155 missense 0.001 benign 0.53 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs951767819 6p21.33 6 31743951A> G null I V 155 155 missense 0.003 benign 0.74 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1344042391 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31743954C> T null P S 156 156 missense 0.254 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs771564610 6p21.33 6 31743960G> A null A T 158 158 missense 0.019 benign 0.44 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs555852787 6p21.33 6 31743961C> T null A V 158 158 5.99E-4 missense 0.029 benign 0.49 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147242972 6p21.33 6 31743963A> T null M L 159 159 missense 0.001 benign 0.61 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147242972 6p21.33 6 31743963A> G null M V 159 159 missense 0.028 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1289238696 6p21.33 6 31743978A> G null K E 164 164 missense 0.94 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs200847013 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31743984C> T null L F 166 166 missense 0.933 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs200847013 6p21.33 6 31743984C> G null L V 166 166 missense 0.175 benign 0.4 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1246912077 6p21.33 6 31743987T> C null F L 167 167 missense 0.108 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs544248641 6p21.33 6 31743997C> G null S C 170 170 2.0E-4 missense 1.0 probably damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs544248641 6p21.33 6 31743997C> T null S F 170 170 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1178426915 6p21.33 6 31744002A> T null I F 172 172 missense 0.783 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1246778705 6p21.33 6 31744008T> G null F V 174 174 missense 0.929 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs375782879 6p21.33 6 31744012A> G null D G 175 175 missense 0.732 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs751638760 6p21.33 6 31744014T> A null C S 176 176 missense 0.013 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1364061906 6p21.33 6 31744016C> G null C W 176 176 missense 0.929 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs878954386 6p21.33 6 31744017C> T null L F 177 177 missense 0.253 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1035542409 6p21.33 6 31744018T> A null L H 177 177 missense 0.012 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs961052469 6p21.33 6 31744024C> T null T I 179 179 missense 0.018 benign 0.0 deleterious - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs979678139 6p21.33 6 31744142C> T null P S 181 181 missense 0.001 benign 0.98 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1269317419 6p21.33 6 31744152T> C null L S 184 184 missense 0.801 possibly damaging 0.12 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1215921764 6p21.33 6 31744157T> C null F L 186 186 missense 0.0 benign 0.72 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs747284710 6p21.33 6 31744164C> T null P L 188 188 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs374128866 6p21.33 6 31744163C> T null P S 188 188 missense 0.01 benign 0.5 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs374128866 6p21.33 6 31744163C> A null P T 188 188 missense 0.109 benign 0.28 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759503147 6p21.33 6 31744169C> T null P S 190 190 missense 0.003 benign 0.66 tolerated - low confidence 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752487453 6p21.33 6 31744184T> C null S P 195 195 missense 0.241 benign 0.36 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs201902027 6p21.33 6 31744188A> G null Q R 196 196 missense 0.954 probably damaging 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147515280 6p21.33 6 31744193C> T null R * 198 198 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs373533126 6p21.33 6 31744194G> C null R P 198 198 missense 0.969 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs373533126 6p21.33 6 31744194G> A null R Q 198 198 missense 0.286 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs780879911 6p21.33 6 31744197C> G null A G 199 199 missense 0.962 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs931705193 6p21.33 6 31744200T> C null L P 200 200 missense 0.977 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs140046907 6p21.33 6 31744202G> A null G R 201 201 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1453199689 6p21.33 6 31744214A> C null K Q 205 205 missense 0.992 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs112751313 6p21.33 6 31744221T> A null L Q 207 207 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs149694647 6p21.33 6 31744226C> T null R * 209 209 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs149694647 6p21.33 6 31744226C> G null R G 209 209 missense 0.956 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs138712583 6p21.33 6 31744227G> A null R Q 209 209 3.99E-4 missense 0.571 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1426267022 6p21.33 6 31744232A> G null R G 211 211 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375514940 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31744238G> A null G R 213 213 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375514940 6p21.33 6 31744238G> C null G R 213 213 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375514940 6p21.33 6 31744238G> T null G W 213 213 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1221371179 6p21.33 6 31744244G> C null E Q 215 215 missense 0.833 possibly damaging 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs201310137 6p21.33 6 31744255C> G null D E 218 218 2.0E-4 missense 0.303 benign 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,dbSNP rs28381358 6p21.33 6 31744257A> G null Y C 219 219 2.0E-4 missense 0.003 benign 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs369927732 6p21.33 6 31744265A> G null S G 222 222 missense 0.0 benign 0.62 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765150543 6p21.33 6 31744266G> A null S N 222 222 missense 0.001 benign 0.51 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs28381359 6p21.33 6 31744268G> T null V F 223 223 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs28381359 6p21.33 6 31744268G> A null V I 223 223 missense 0.943 probably damaging 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs757008823 6p21.33 6 31744281G> A null G D 227 227 missense 0.003 benign 0.16 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1470357782 6p21.33 6 31744294T> G null F L 231 231 missense 0.671 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1470357782 6p21.33 6 31744294T> A null F L 231 231 missense 0.671 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs370701049 6p21.33 6 31744296T> C null M T 232 232 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767345603 6p21.33 6 31744546G> T null L F 233 233 missense 0.894 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs755523006 6p21.33 6 31744560A> G null N S 238 238 missense 0.0 benign 0.54 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1337020273 6p21.33 6 31744562A> G null I V 239 239 missense 0.009 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562221408 6p21.33 6 31744580A> T null S C 245 245 missense 0.017 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562222608 6p21.33 6 31745238G> A null V I 246 246 missense 0.893 possibly damaging 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1322704307 6p21.33 6 31745247A> G null I V 249 249 missense 0.997 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1203863745 6p21.33 6 31745259G> T null E * 253 253 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772006766 6p21.33 6 31745265C> T null H Y 255 255 missense 0.996 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs760408814 6p21.33 6 31745269C> T null P L 256 256 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs202161678 6p21.33 6 31745268C> A null P T 256 256 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs878903258 6p21.33 6 31745281A> T null K I 260 260 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765777525 6p21.33 6 31745286G> T null A S 262 262 missense 0.012 benign 0.38 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1480408717 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31745290G> A null S N 263 263 missense 0.261 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs753440321 6p21.33 6 31745293G> A null G E 264 264 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759951855 6p21.33 6 31745296T> G null L R 265 265 missense 0.244 benign 0.43 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs765804606 6p21.33 6 31745304G> A null G R 268 268 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1427727199 6p21.33 6 31745308T> G null L R 269 269 missense 0.672 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1374404021 6p21.33 6 31745313C> G null L V 271 271 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758709925 6p21.33 6 31745317T> G null F C 272 272 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1342775439 6p21.33 6 31747392C> T null L F 275 275 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1463325219 6p21.33 6 31747397C> A null N K 276 276 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs775716730 6p21.33 6 31747400A> T null R S 277 277 missense 0.957 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs927297718 6p21.33 6 31747408G> C null C S 280 280 missense 0.007 benign 0.66 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1282907122 6p21.33 6 31747411A> C null K T 281 281 missense 0.047 benign 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs760225808 6p21.33 6 31747415G> A null W * 282 282 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1366942259 6p21.33 6 31747417G> A null G E 283 283 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770677623 6p21.33 6 31747429T> A null L H 287 287 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770677623 6p21.33 6 31747429T> G null L R 287 287 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs763435940 6p21.33 6 31753306G> T null W L 290 290 missense 0.993 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs144471639 6p21.33 6 31753314C> T null R C 293 293 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs372287164 6p21.33 6 31753315G> A null R H 293 293 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs774724163 6p21.33 6 31753318C> T null P L 294 294 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs142533600 6p21.33 6 31753323C> A null H N 296 296 missense 0.0 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs527471080 6p21.33 6 31753324A> G null H R 296 296 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,NCI-TCGA,gnomAD rs142533600 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 6p21.33 6 31753323C> T null H Y 296 296 missense 0.013 benign 0.06 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs548939028 6p21.33 6 31753330T> C null L P 298 298 2.0E-4 missense 0.958 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1200625278 6p21.33 6 31753332G> A null G R 299 299 missense 0.003 benign 0.51 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1200625278 6p21.33 6 31753332G> C null G R 299 299 missense 0.003 benign 0.51 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1245163682 6p21.33 6 31753335G> A null E K 300 300 missense 0.39 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1312556857 6p21.33 6 31753341A> G null S G 302 302 missense 0.0 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs200237441 6p21.33 6 31753343T> G null S R 302 302 missense 0.003 benign 0.3 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1047906074 6p21.33 6 31753344T> C null S P 303 303 missense 0.662 possibly damaging 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,gnomAD rs777829104 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 6p21.33 6 31753347C> T null R C 304 304 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs746903566 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.33 6 31753348G> A null R H 304 304 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs746903566 6p21.33 6 31753348G> T null R L 304 304 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs145519200 6p21.33 6 31753356G> A null V I 307 307 2.0E-4 missense 0.705 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745544583 6p21.33 6 31753359A> G null I V 308 308 missense 0.355 benign 0.17 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146418933 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31753364G> T null Q H 309 309 missense 0.0 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769381856 6p21.33 6 31753363A> C null Q P 309 309 missense 0.127 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769381856 6p21.33 6 31753363A> G null Q R 309 309 missense 0.003 benign 0.42 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs748865335 6p21.33 6 31753371C> G null L V 312 312 missense 0.122 benign 0.16 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs774971042 6p21.33 6 31753381A> C null Q P 315 315 missense 0.641 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138219906 6p21.33 6 31753389G> T null D Y 318 318 3.99E-4 missense 0.971 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1347323946 6p21.33 6 31753392A> C null M L 319 319 missense 0.001 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1347323946 6p21.33 6 31753392A> T null M L 319 319 missense 0.001 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1334648863 6p21.33 6 31753393T> C null M T 319 319 missense 0.0 benign 0.73 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1406257671 6p21.33 6 31753399A> G null Q R 321 321 missense 0.009 benign 0.5 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1448456133 6p21.33 6 31753408A> G null H R 324 324 missense 0.049 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1269438723 6p21.33 6 31753411G> A null R Q 325 325 missense 0.114 benign 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1009005943 6p21.33 6 31753410C> T null R W 325 325 missense 0.888 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs767954064 6p21.33 6 31753419G> A null G S 328 328 missense 0.009 benign 0.39 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1191323707 6p21.33 6 31753422C> A null H N 329 329 missense 0.007 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs773398484 6p21.33 6 31753424C> A null H Q 329 329 missense 0.049 benign 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs56200818 6p21.33 6 31753425A> G null I V 330 330 missense 0.47 possibly damaging 0.25 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs377707567 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:24325359,cosmic_study:562 6p21.33 6 31753434G> A null V M 333 333 missense 0.526 possibly damaging 0.11 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs755163320 6p21.33 6 31753437C> T null P S 334 334 missense 0.73 possibly damaging 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs146730825 6p21.33 6 31753570A> G null I V 336 336 missense 0.383 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs753519199 6p21.33 6 31753579C> T null R C 339 339 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs923694243 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 6p21.33 6 31753580G> A null R H 339 339 missense 0.991 probably damaging 0.06 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1296509917 6p21.33 6 31753584G> T null M I 340 340 missense 0.692 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1298630548 6p21.33 6 31753582A> G null M V 340 340 missense 0.676 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1364555108 6p21.33 6 31753585A> C null K Q 341 341 missense 0.019 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs778496445 6p21.33 6 31753586A> C null K T 341 341 missense 0.001 benign 0.45 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs747543231 6p21.33 6 31753590G> C null L F 342 342 missense 0.023 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs771603486 6p21.33 6 31753596C> G null H Q 344 344 missense 0.003 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs771603486 6p21.33 6 31753596C> A null H Q 344 344 missense 0.003 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1234557320 6p21.33 6 31753598C> A null T N 345 345 missense 0.037 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1279458314 6p21.33 6 31753601A> C null K T 346 346 missense 0.555 possibly damaging 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1352217266 6p21.33 6 31753603G> T null V F 347 347 missense 0.655 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1352217266 6p21.33 6 31753603G> A null V I 347 347 missense 0.026 benign 0.44 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1219232275 6p21.33 6 31753607G> C null S T 348 348 missense 0.017 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1384916782 6p21.33 6 31753609G> A null D N 349 349 missense 0.566 possibly damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1490228829 6p21.33 6 31753613G> T null W L 350 350 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs920614234 6p21.33 6 31753615C> T null Q * 351 351 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1208301082 6p21.33 6 31753619T> G null V G 352 352 missense 0.006 benign 0.48 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs747492678 6p21.33 6 31753625A> G null Y C 354 354 missense 0.927 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs771456934 6p21.33 6 31753627A> G null K E 355 355 missense 0.056 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs975768398 6p21.33 6 31758169T> C null V A 357 357 missense 0.027 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1024218277 6p21.33 6 31758174A> G null S G 359 359 missense 0.441 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC rs770182829 6p21.33 6 31758177G> T null A S 360 360 missense 0.988 probably damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs968149872 6p21.33 6 31758181T> C null L P 361 361 missense 0.943 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC rs775624062 6p21.33 6 31758183G> A null G S 362 362 missense 0.399 benign 0.42 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1379130675 6p21.33 6 31758190G> C null R T 364 364 missense 0.631 possibly damaging 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1332664728 6p21.33 6 31758189A> T null R W 364 364 missense 0.975 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1309712663 6p21.33 6 31758192G> A null D N 365 365 missense 0.212 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28399976 6p21.33 6 31758201C> T null R C 368 368 0.01478 missense 0.009 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28399976 6p21.33 6 31758201C> G null R G 368 368 0.01478 missense 0.784 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1226966371 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31758202G> A null R H 368 368 missense 0.896 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1243252622 6p21.33 6 31758205C> T null S F 369 369 missense 0.857 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC rs776624759 6p21.33 6 31758211C> T null P L 371 371 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1252357006 6p21.33 6 31758210C> A null P T 371 371 missense 0.992 probably damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs150348946 6p21.33 6 31758214A> G null Q R 372 372 missense 0.503 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs765055098 6p21.33 6 31758217C> T null S F 373 373 missense 0.739 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752328105 6p21.33 6 31758224G> C null Q H 375 375 missense 0.007 benign 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC rs758024890 6p21.33 6 31758225C> G null L V 376 376 missense 0.861 possibly damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145281780 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6p21.33 6 31758232G> A null R Q 378 378 missense 0.0 benign 0.54 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs767522105 6p21.33 6 31758231C> T null R W 378 378 missense 0.505 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs781779688 6p21.33 6 31758234G> A null D N 379 379 missense 0.268 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746365164 6p21.33 6 31758237A> G null I V 380 380 missense 0.227 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1425099380 6p21.33 6 31758244A> C null Q P 382 382 missense 0.169 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1202606859 6p21.33 6 31758267C> T null H Y 390 390 missense 0.007 benign 0.9 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs371214465 6p21.33 6 31758270A> G null I V 391 391 missense 0.355 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs752626267 6p21.33 6 31758273G> A null A T 392 392 missense 0.596 possibly damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28399977 6p21.33 6 31758279C> T null L F 394 394 0.004992 missense 0.988 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1309652288 6p21.33 6 31758280T> C null L P 394 394 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs905227820 6p21.33 6 31758284T> G null I M 395 395 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs774416976 6p21.33 6 31758283T> A null I N 395 395 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs774416976 6p21.33 6 31758283T> C null I T 395 395 missense 0.793 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1219316667 6p21.33 6 31758292T> C null V A 398 398 missense 0.948 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs748346009 6p21.33 6 31758558A> G null E G 402 402 missense 0.936 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1225712829 6p21.33 6 31758563A> G null S G 404 404 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1426472892 6p21.33 6 31758569G> C null A P 406 406 missense 0.881 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772174876 6p21.33 6 31758578C> T null R C 409 409 missense 0.059 benign 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772174876 6p21.33 6 31758578C> G null R G 409 409 missense 0.803 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,gnomAD rs777865774 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31758579G> A null R H 409 409 missense 0.037 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777865774 6p21.33 6 31758579G> T null R L 409 409 missense 0.748 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772174876 6p21.33 6 31758578C> A null R S 409 409 missense 0.748 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745810613 6p21.33 6 31758585C> G null T R 411 411 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1318922901 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31758593C> T null P S 414 414 missense 0.555 possibly damaging 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs908424021 6p21.33 6 31758600T> C null I T 416 416 missense 0.818 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs982649663 6p21.33 6 31758599A> G null I V 416 416 missense 0.037 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs768549863 6p21.33 6 31758608G> A null E K 419 419 missense 0.047 benign 0.59 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs774188697 6p21.33 6 31758619G> C null E D 422 422 missense 0.085 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1045289075 6p21.33 6 31758769A> G null K R 424 424 missense 0.929 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,TOPMed,gnomAD rs772734061 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.33 6 31758771C> T null R * 425 425 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,TOPMed,gnomAD rs760288512 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.33 6 31758772G> A null R Q 425 425 missense 0.936 probably damaging 0.04 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1438957659 6p21.33 6 31758778T> C null L P 427 427 missense 0.916 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs201036343 6p21.33 6 31758783G> C null G R 429 429 missense 0.793 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759991582 6p21.33 6 31758790C> T null P L 431 431 missense 0.971 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752995567 6p21.33 6 31758792A> G null S G 432 432 missense 0.029 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs371674135 6p21.33 6 31758797C> A null F L 433 433 missense 0.103 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1464099616 6p21.33 6 31758798C> T null L F 434 434 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1172989243 6p21.33 6 31758804G> A null E K 436 436 missense 0.069 benign 0.36 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1400939483 6p21.33 6 31758813C> T null R C 439 439 missense 0.785 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed rs764436774 6p21.33 6 31758814G> A null R H 439 439 missense 0.641 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1475124754 6p21.33 6 31758834G> A null D N 446 446 missense 0.227 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs749261273 6p21.33 6 31758840C> T null R C 448 448 missense 0.015 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146419845 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6p21.33 6 31758841G> A null R H 448 448 missense 0.006 benign 0.21 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs146419845 6p21.33 6 31758841G> T null R L 448 448 missense 0.198 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs996971599 6p21.33 6 31758855A> G null S G 453 453 missense 0.275 benign 0.22 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748022464 6p21.33 6 31758865A> G null Y C 456 456 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1270579111 6p21.33 6 31759110T> C null L P 464 464 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746692254 6p21.33 6 31759109C> G null L V 464 464 missense 0.935 probably damaging 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770429409 6p21.33 6 31759113C> T null S F 465 465 missense 0.061 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562245683 6p21.33 6 31759116T> C null I T 466 466 missense 0.74 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1454707671 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31759119C> T null P L 467 467 missense 0.975 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs568198414 6p21.33 6 31759118C> T null P S 467 467 2.0E-4 missense 0.95 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs535334486 6p21.33 6 31759121C> T null R C 468 468 2.0E-4 missense 0.134 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,NCI-TCGA,TOPMed,gnomAD rs139002853 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31759122G> A null R H 468 468 missense 0.959 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1374809697 6p21.33 6 31759124C> G null L V 469 469 missense 0.19 benign 0.3 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1158900357 6p21.33 6 31759128C> T null P L 470 470 missense 0.1 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1283350101 6p21.33 6 31759136G> C null V L 473 473 missense 0.045 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1384543060 6p21.33 6 31759142G> A null A T 475 475 missense 0.001 benign 0.43 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776019613 6p21.33 6 31759143C> T null A V 475 475 missense 0.047 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1226327125 6p21.33 6 31759158T> G null I S 480 480 missense 0.928 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1352005880 6p21.33 6 31759164G> A null G E 482 482 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs769090092 6p21.33 6 31759177G> A null M I 486 486 missense 0.077 benign 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1007207158 6p21.33 6 31759175A> G null M V 486 486 missense 0.022 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752708451 6p21.33 6 31759432C> T null S L 489 489 missense 0.038 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1331227391 6p21.33 6 31759437G> A null E K 491 491 missense 0.156 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,gnomAD rs777634800 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31759452C> T null R C 496 496 missense 0.984 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs751243553 6p21.33 6 31759453G> A null R H 496 496 missense 0.984 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs757036190 6p21.33 6 31759461C> T null R * 499 499 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs143329989 6p21.33 6 31759462G> A null R Q 499 499 missense 0.942 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1242899154 6p21.33 6 31759465C> T null T I 500 500 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1389491312 6p21.33 6 31759468A> G null K R 501 501 missense 0.033 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1267249402 6p21.33 6 31759470G> A null E K 502 502 missense 0.883 possibly damaging 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1335582081 6p21.33 6 31759473C> G null L V 503 503 missense 0.983 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl,dbSNP rs1060505055 [UniProt]: decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide, [ClinVar]: Premature ovarian failure 13 pubmed:28175301 pubmed:28175301 6p21.33 6 31759476G> T null D Y 504 504 missense 0.998 probably damaging 0.0 deleterious 0 Premature ovarian failure 13 (POF13) MIM:617442 ClinVar:RCV000477966 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl,dbSNP rs1060505055 [UniProt]: decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide, [ClinVar]: Premature ovarian failure 13 pubmed:28175301 pubmed:28175301 6p21.33 6 31759476G> T null D Y 504 504 missense 0.998 probably damaging 0.0 deleterious 0 Premature ovarian failure 13 (POF13) An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. MIM:617442 pubmed:28175301 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs564465985 6p21.33 6 31759485C> A null L M 507 507 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs936923027 6p21.33 6 31759500T> C null C R 512 512 missense 0.7 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs372570974 6p21.33 6 31759503G> A null E K 513 513 missense 0.046 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768980200 6p21.33 6 31759509C> G null R G 515 515 missense 0.841 possibly damaging 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs774915854 6p21.33 6 31759510G> A null R Q 515 515 missense 0.906 possibly damaging 0.24 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768980200 6p21.33 6 31759509C> T null R W 515 515 missense 0.967 probably damaging 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1364214339 6p21.33 6 31759787C> A null D E 516 516 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs369328784 6p21.33 6 31759786A> G null D G 516 516 missense 0.997 probably damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,gnomAD rs375240305 6p21.33 6 31759512G> T null D Y 516 516 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs758506140 6p21.33 6 31759788C> G null Q E 517 517 missense 0.19 benign 0.24 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1203566834 6p21.33 6 31759791G> A null E K 518 518 missense 0.972 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs751781847 6p21.33 6 31759795C> T null T M 519 519 missense 0.333 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs747243519 6p21.33 6 31759798T> C null L P 520 520 missense 0.015 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs568300022 6p21.33 6 31759805G> A null M I 522 522 2.0E-4 missense 0.382 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776904194 6p21.33 6 31759824G> A null V M 529 529 missense 0.933 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1157148220 6p21.33 6 31759827C> A null L M 530 530 missense 0.861 possibly damaging 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1485891206 6p21.33 6 31759831C> T null A V 531 531 missense 0.19 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs765331052 6p21.33 6 31759833C> T null R * 532 532 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs141972312 6p21.33 6 31759834G> A null R Q 532 532 missense 0.807 possibly damaging 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs761693917 6p21.33 6 31759839G> C null A P 534 534 missense 0.003 benign 0.29 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1396095125 6p21.33 6 31759842G> A null V I 535 535 missense 0.311 benign 0.16 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,gnomAD rs766003915 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.33 6 31759851C> T null R * 538 538 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs766003915 6p21.33 6 31759851C> G null R G 538 538 missense 0.283 benign 0.11 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1431554863 6p21.33 6 31759852G> T null R L 538 538 missense 0.283 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1431554863 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.33 6 31759852G> A null R Q 538 538 missense 0.072 benign 0.44 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1293085972 6p21.33 6 31759854G> A null V I 539 539 missense 0.61 possibly damaging 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1293085972 6p21.33 6 31759854G> T null V L 539 539 missense 0.383 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1431998328 6p21.33 6 31759863C> T null L F 542 542 missense 0.038 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748684293 6p21.33 6 31759869T> G null S A 544 544 missense 0.007 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1237740792 6p21.33 6 31759872C> T null R C 545 545 missense 0.911 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs898926429 6p21.33 6 31759873G> A null R H 545 545 missense 0.015 benign 0.25 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1220175817 6p21.33 6 31759879A> G null D G 547 547 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1479375303 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31759881G> A null V I 548 548 missense 0.666 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1377935239 6p21.33 6 31759897C> G null A G 553 553 missense 0.599 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1201329599 6p21.33 6 31759896G> A null A T 553 553 missense 0.956 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs370037482 6p21.33 6 31759900G> C null S T 554 554 missense 0.045 benign 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1254227017 6p21.33 6 31759903C> T null A V 555 555 missense 0.069 benign 0.85 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1156485091 6p21.33 6 31759908C> T null R W 557 557 missense 0.993 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs771307170 6p21.33 6 31759915A> G null Y C 559 559 missense 0.957 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776761232 6p21.33 6 31759917G> C null G R 560 560 missense 0.918 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746066292 6p21.33 6 31759922C> A null Y * 561 561 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs895721974 6p21.33 6 31759921A> G null Y C 561 561 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs368545412 6p21.33 6 31759930C> T null P L 564 564 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767511035 6p21.33 6 31759932C> T null R C 565 565 missense 0.003 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs773121271 6p21.33 6 31759933G> A null R H 565 565 missense 0.0 benign 0.32 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs773121271 6p21.33 6 31759933G> T null R L 565 565 missense 0.052 benign 0.23 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562247553 6p21.33 6 31759942C> T null P L 568 568 missense 0.018 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1326460511 6p21.33 6 31759944C> A null Q K 569 569 missense 0.0 benign 0.58 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs867653729 6p21.33 6 31759950C> A null L I 571 571 missense 0.047 benign 0.39 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1376133619 6p21.33 6 31759953G> A null G R 572 572 missense 0.026 benign 0.65 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1444287107 6p21.33 6 31759956G> A null V I 573 573 missense 0.018 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs966796074 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 6p21.33 6 31759960G> A null R Q 574 574 missense 0.304 benign 0.32 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs766164563 6p21.33 6 31759969A> G null N S 577 577 missense 0.029 benign 0.41 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs753464395 6p21.33 6 31759972G> T null G V 578 578 missense 0.968 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1209913246 6p21.33 6 31760092A> G null H R 580 580 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs762594651 6p21.33 6 31760091C> T null H Y 580 580 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed,gnomAD rs369122691 6p21.33 6 31760101T> C null M T 583 583 missense 0.047 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1188665133 6p21.33 6 31760103G> A null E K 584 584 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1423023899 6p21.33 6 31760106C> T null L F 585 585 missense 0.727 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP rs372527730 6p21.33 6 31760110G> A null C Y 586 586 missense 0.977 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs752139216 6p21.33 6 31760115C> T null R * 588 588 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs757728679 6p21.33 6 31760116G> A null R Q 588 588 missense 0.154 benign 0.52 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs781415195 6p21.33 6 31760119C> T null T I 589 589 missense 0.673 possibly damaging 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1376829405 6p21.33 6 31760122T> G null F C 590 590 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1439080670 6p21.33 6 31760125T> G null V G 591 591 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1415037901 6p21.33 6 31760124G> A null V M 591 591 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs780305341 6p21.33 6 31760140A> C null E A 596 596 missense 0.007 benign 0.62 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45468693 6p21.33 6 31760142T> G null C G 597 597 0.002796 missense 0.047 benign 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768752717 6p21.33 6 31760146G> A null G D 598 598 missense 0.009 benign 0.22 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs768752717 6p21.33 6 31760146G> T null G V 598 598 missense 0.206 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1218999283 6p21.33 6 31760151G> T null D Y 600 600 missense 0.735 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs778914313 6p21.33 6 31760158G> A null G E 602 602 missense 0.045 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746932578 6p21.33 6 31760164T> A null V D 604 604 missense 0.942 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1228678047 6p21.33 6 31760167A> G null K R 605 605 missense 0.082 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1242628907 6p21.33 6 31760169G> A null V I 606 606 missense 0.01 benign 0.76 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770830813 6p21.33 6 31760175A> C null T P 608 608 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs776424705 6p21.33 6 31760178G> A null G R 609 609 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1434911254 6p21.33 6 31760182C> G null P R 610 610 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1396690527 6p21.33 6 31760181C> T null P S 610 610 missense 0.991 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1157646234 6p21.33 6 31760185A> T null N I 611 611 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1157646234 6p21.33 6 31760185A> G null N S 611 611 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769686810 6p21.33 6 31760188C> T null S L 612 612 missense 0.857 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1318481233 6p21.33 6 31760198G> C null K N 615 615 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1024841664 6p21.33 6 31760205T> C null Y H 618 618 missense 0.981 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61748589 6p21.33 6 31760212A> G null K R 620 620 0.001597 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1308996881 6p21.33 6 31760690G> A null V I 622 622 missense 0.05 benign 0.26 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758391199 6p21.33 6 31760701C> G null I M 625 625 missense 0.889 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs781237213 6p21.33 6 31760706T> A null F Y 627 627 missense 0.671 possibly damaging 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745755479 6p21.33 6 31760714C> A null L M 630 630 missense 0.671 possibly damaging 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs769736864 6p21.33 6 31760732C> G null P A 636 636 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs775371109 6p21.33 6 31760743G> C null E D 639 639 missense 0.075 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748958256 6p21.33 6 31760744G> A null A T 640 640 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,gnomAD rs773862644 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31760747G> A null E K 641 641 missense 0.03 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1420450908 6p21.33 6 31760752T> G null I M 642 642 missense 0.942 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs529144916 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 6p21.33 6 31760757C> T null A V 644 644 2.0E-4 missense 0.001 benign 1.0 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,TOPMed rs367550649 6p21.33 6 31760759G> C null V L 645 645 missense 0.104 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs569026702 6p21.33 6 31760765G> A null A T 647 647 2.0E-4 missense 0.692 possibly damaging 0.12 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1397242192 6p21.33 6 31760770C> G null I M 648 648 missense 0.904 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,TOPMed,gnomAD rs766742261 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:414 6p21.33 6 31760778G> A null R Q 651 651 missense 0.997 probably damaging 0.01 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1297918100 6p21.33 6 31760780A> G null I V 652 652 missense 0.227 benign 0.22 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754134814 6p21.33 6 31760784A> G null H R 653 653 missense 0.673 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs139795131 6p21.33 6 31760791C> A null C * 655 655 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,TOPMed,gnomAD rs765549669 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31760792G> A null E K 656 656 missense 0.827 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1231521758 6p21.33 6 31760822A> G null M V 666 666 missense 0.596 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758542821 6p21.33 6 31760828G> A null D N 668 668 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1217960899 6p21.33 6 31760835A> G null N S 670 670 missense 0.639 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1217960899 6p21.33 6 31760835A> C null N T 670 670 missense 0.945 probably damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs971199165 6p21.33 6 31761191G> A null A T 673 673 missense 0.95 probably damaging 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs751759812 6p21.33 6 31761192C> T null A V 673 673 missense 0.803 possibly damaging 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1171491067 6p21.33 6 31761204A> T null N I 677 677 missense 0.977 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs753796312 6p21.33 6 31761205C> A null N K 677 677 missense 0.455 possibly damaging 0.05 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1171491067 6p21.33 6 31761204A> G null N S 677 677 missense 0.857 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs754835753 6p21.33 6 31761206A> T null N Y 678 678 missense 0.047 benign 0.19 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs747848552 6p21.33 6 31761219A> G null Q R 682 682 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1287197549 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.33 6 31761222C> T null S L 683 683 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777477382 6p21.33 6 31761234T> C null I T 687 687 missense 0.804 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1302365717 6p21.33 6 31761237A> G null D G 688 688 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,gnomAD rs746576082 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 6p21.33 6 31761239G> T null E * 689 689 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs143496126 6p21.33 6 31761240A> C null E A 689 689 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs746576082 6p21.33 6 31761239G> A null E K 689 689 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs935670710 6p21.33 6 31761242T> C null F L 690 690 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777160024 6p21.33 6 31761251G> A null G R 693 693 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs371336753 6p21.33 6 31761261C> T null T M 696 696 missense 0.769 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs777447655 6p21.33 6 31761472G> T null V L 697 697 missense 0.011 benign 0.14 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780625907 6p21.33 6 31761485C> A null A E 701 701 missense 0.503 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780625907 6p21.33 6 31761485C> G null A G 701 701 missense 0.063 benign 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs561487480 6p21.33 6 31761484G> C null A P 701 701 2.0E-4 missense 0.764 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs561487480 6p21.33 6 31761484G> A null A T 701 701 2.0E-4 missense 0.294 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs780625907 6p21.33 6 31761485C> T null A V 701 701 missense 0.452 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1452325739 6p21.33 6 31761487C> T null L F 702 702 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs923587532 6p21.33 6 31761496G> A null A T 705 705 missense 0.433 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375591471 NCI-TCGA Cosmic [Cosmic]: liver, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:323 6p21.33 6 31761505C> T null R * 708 708 missense 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs201166095 6p21.33 6 31761506G> T null R L 708 708 missense 0.255 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs201166095 6p21.33 6 31761506G> C null R P 708 708 missense 0.68 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs201166095 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31761506G> A null R Q 708 708 missense 0.025 benign 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs750458730 6p21.33 6 31761510C> G null H Q 709 709 missense 0.881 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs760800506 6p21.33 6 31761520C> T null R C 713 713 missense 0.471 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200755245 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31761521G> A null R H 713 713 2.0E-4 missense 0.309 benign 0.09 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1292837626 6p21.33 6 31761538C> T null H Y 719 719 missense 0.635 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,dbSNP,gnomAD rs752657544 [UniProt]: unknown pathological significance pubmed:28175301 6p21.33 6 31761541A> G null I V 720 720 missense 0.011 benign 1.0 tolerated 0 Premature ovarian failure 13 (POF13) An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. MIM:617442 pubmed:28175301 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs931839218 6p21.33 6 31761559T> A null F I 726 726 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs780820087 6p21.33 6 31761589C> T null P S 736 736 missense 0.992 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745428814 6p21.33 6 31761593A> G null Q R 737 737 missense 0.001 benign 0.34 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs957004773 6p21.33 6 31761595G> A null G R 738 738 missense 0.662 possibly damaging 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs148479115 6p21.33 6 31761599C> T null P L 739 739 missense 0.471 possibly damaging 0.18 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs748578129 6p21.33 6 31761822T> C null M T 746 746 missense 0.263 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs779556401 6p21.33 6 31761821A> G null M V 746 746 missense 0.596 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs773345589 6p21.33 6 31761831G> C null C S 749 749 missense 0.076 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs773345589 6p21.33 6 31761831G> A null C Y 749 749 missense 0.076 benign 0.48 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770936535 6p21.33 6 31761833G> A null E K 750 750 missense 0.108 benign 0.66 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1315155376 6p21.33 6 31761836G> T null D Y 751 751 missense 0.839 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs911714366 6p21.33 6 31761843A> G null N S 753 753 missense 0.03 benign 0.04 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs776713339 6p21.33 6 31761845G> C null D H 754 754 missense 0.837 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs776713339 6p21.33 6 31761845G> A null D N 754 754 missense 0.048 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,TOPMed,gnomAD rs776713339 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31761845G> T null D Y 754 754 missense 0.884 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs764077523 6p21.33 6 31761851G> T null V F 756 756 missense 0.824 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs761636864 6p21.33 6 31761854T> C null F L 757 757 missense 0.94 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1217823336 6p21.33 6 31761857T> C null F L 758 758 missense 0.001 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1248622175 6p21.33 6 31761859C> G null F L 758 758 missense 0.001 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767263679 6p21.33 6 31761861A> G null Y C 759 759 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs767263679 6p21.33 6 31761861A> T null Y F 759 759 missense 0.717 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562251778 6p21.33 6 31761864A> G null Q R 760 760 missense 0.014 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,TOPMed,gnomAD rs750069319 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.33 6 31761872G> A null E K 763 763 missense 0.01 benign 0.15 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs760320865 6p21.33 6 31761879T> C null V A 765 765 missense 0.075 benign 0.21 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,TOPMed,gnomAD rs566679964 6p21.33 6 31761882C> T null A V 766 766 3.99E-4 missense 0.184 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs754518812 6p21.33 6 31761887G> C null A P 768 768 missense 0.662 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs753220603 6p21.33 6 31761893C> A null H N 770 770 missense 0.799 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs758863824 6p21.33 6 31761894A> G null H R 770 770 missense 0.772 possibly damaging 0.06 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs778148878 6p21.33 6 31761897C> T null A V 771 771 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1348605243 6p21.33 6 31761912C> A null A D 776 776 missense 0.534 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1225595574 6p21.33 6 31761916G> C null Q H 777 777 missense 0.878 possibly damaging 0.24 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1268689405 6p21.33 6 31761921G> A null G E 779 779 missense 0.906 possibly damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1467983020 6p21.33 6 31761924T> C null L P 780 780 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs771253756 6p21.33 6 31761927C> T null P L 781 781 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1211533286 6p21.33 6 31761926C> T null P S 781 781 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1180604122 6p21.33 6 31761931C> G null D E 782 782 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1180604122 6p21.33 6 31761931C> A null D E 782 782 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1451775630 6p21.33 6 31761930A> G null D G 782 782 missense 0.018 benign 0.33 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs781259202 6p21.33 6 31761932A> G null K E 783 783 missense 0.001 benign 0.88 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1159342042 6p21.33 6 31761934G> T null K N 783 783 missense 0.029 benign 0.42 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1470869937 6p21.33 6 31761933A> C null K T 783 783 missense 0.029 benign 0.41 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs745997271 6p21.33 6 31761936T> C null L P 784 784 missense 0.958 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1449784203 6p21.33 6 31761938G> A null V M 785 785 missense 0.369 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769834225 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6p21.33 6 31761945G> A null R H 787 787 missense 1.0 probably damaging 0.0 deleterious 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs769834225 6p21.33 6 31761945G> C null R P 787 787 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1394531726 6p21.33 6 31762116C> T null S L 792 792 missense 0.992 probably damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs142634264 6p21.33 6 31762127C> T null R C 796 796 missense 0.21 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs142634264 6p21.33 6 31762127C> G null R G 796 796 missense 0.842 possibly damaging 0.05 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148601889 6p21.33 6 31762128G> A null R H 796 796 2.0E-4 missense 0.077 benign 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1413060919 6p21.33 6 31762134G> C null G A 798 798 missense 0.788 possibly damaging 0.03 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1802127 6p21.33 6 31762148C> T null P S 803 803 0.04732 missense 0.108 benign 0.13 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,TOPMed,gnomAD rs772116642 6p21.33 6 31762157G> A null D N 806 806 missense 0.001 benign 0.2 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs146473863 6p21.33 6 31762163C> G null L V 808 808 missense 0.0 benign 0.51 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1484396931 6p21.33 6 31762166A> C null K Q 809 809 missense 0.109 benign 0.27 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1202856417 6p21.33 6 31762172A> G null N D 811 811 missense 0.0 benign 0.53 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs573697229 6p21.33 6 31762174C> A null N K 811 811 7.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs538970548 6p21.33 6 31762178A> C null M L 813 813 2.0E-4 missense 0.001 benign 0.47 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs759215400 6p21.33 6 31762185A> G null N S 815 815 missense 0.075 benign 0.07 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866903702 6p21.33 6 31762433G> C null V L 820 820 missense 0.717 possibly damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs866903702 6p21.33 6 31762433G> A null V M 820 820 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs952525164 6p21.33 6 31762441G> C null K N 822 822 missense 0.268 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs770781686 6p21.33 6 31762444T> A null F L 823 823 missense 0.972 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs200703636 6p21.33 6 31762447G> C null M I 824 824 missense 0.007 benign 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed rs1363750231 6p21.33 6 31762446T> C null M T 824 824 missense 0.054 benign 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP,ExAC,TOPMed,gnomAD rs147878532 6p21.33 6 31762448A> T null K * 825 825 stop gained 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ESP rs141493879 6p21.33 6 31762456T> A null D E 827 827 missense 0.961 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs1562253176 6p21.33 6 31762454G> T null D Y 827 827 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes,ExAC,gnomAD rs189410690 6p21.33 6 31762457T> A null L M 828 828 2.0E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1453194999 6p21.33 6 31762462A> T null E D 829 829 missense 0.039 benign 0.73 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs775261672 6p21.33 6 31762460G> A null E K 829 829 missense 0.858 possibly damaging 0.02 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein TOPMed,gnomAD rs1298811565 6p21.33 6 31762470A> G null N S 832 832 missense 0.0 benign 0.84 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1287035563 6p21.33 6 31762476A> G null D G 834 834 missense 0.758 possibly damaging 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein Ensembl rs984858871 6p21.33 6 31762478T> A null L M 835 835 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,NCI-TCGA,TOPMed,gnomAD rs763472304 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 6p21.33 6 31762484G> A null V I 837 837 missense 0.0 benign 0.19 tolerated 1 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein 1000Genomes rs199880617 6p21.33 6 31762490A> G null M V 839 839 2.0E-4 missense 0.023 benign 0.01 deleterious 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein ExAC,gnomAD rs774946202 6p21.33 6 31762496C> G null Q E 841 841 missense 0.012 benign 0.73 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1220631009 6p21.33 6 31762520A> G null S G 849 849 missense 0.001 benign 0.08 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1301597352 6p21.33 6 31762521G> A null S N 849 849 missense 0.073 benign 0.1 tolerated 0 A0A024RCV8 MSH5-SAPCD1 DNA mismatch repair protein gnomAD rs1301597352 6p21.33 6 31762521G> C null S T 849 849 missense 0.001 benign 0.63 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs746046031 7q11.22 7 70764919C> G null A G 3 3 missense 0.996 probably damaging 0.13 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772174582 7q11.22 7 70764921C> G null P A 4 4 missense 0.337 benign 0.53 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772174582 7q11.22 7 70764921C> T null P S 4 4 missense 0.068 benign 0.29 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375248939 7q11.22 7 70764924C> G null P A 5 5 missense 0.814 possibly damaging 0.1 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375248939 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 7q11.22 7 70764924C> T null P S 5 5 missense 0.509 possibly damaging 0.49 tolerated - low confidence 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769270137 7q11.22 7 70764931C> G null A G 7 7 missense 0.921 probably damaging 0.02 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769270137 7q11.22 7 70764931C> T null A V 7 7 missense 0.861 possibly damaging 0.02 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs776933516 7q11.22 7 70764940C> T null P L 10 10 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1183920669 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 7q11.22 7 70764942C> T null P S 11 11 missense 0.998 probably damaging 0.08 tolerated - low confidence 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1319853511 7q11.22 7 70764949C> T null P L 13 13 missense 0.951 probably damaging 0.28 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs752310034 7q11.22 7 70764979G> C null G A 23 23 missense 0.625 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs767056271 7q11.22 7 70764978G> A null G R 23 23 missense 0.948 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1224095495 7q11.22 7 70764982A> T null H L 24 24 missense 0.36 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369919917 7q11.22 7 70764985C> T null P L 25 25 missense 0.913 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369919917 7q11.22 7 70764985C> G null P R 25 25 missense 0.965 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC rs780131403 7q11.22 7 70764991G> C null G A 27 27 missense 0.097 benign 0.36 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772392460 7q11.22 7 70764990G> A null G R 27 27 missense 0.828 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1057521372 7q11.22 7 70766126T> C null L S 36 36 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1057517708 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 7q11.22 7 70766128C> T null R * 37 37 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs781550695 7q11.22 7 70766141A> G null N S 41 41 missense 0.796 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,TOPMed,gnomAD rs371206262 7q11.22 7 70766164A> G null S G 49 49 missense 0.095 benign 0.21 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1288588789 7q11.22 7 70766168C> T null A V 50 50 missense 0.857 possibly damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs930597957 7q11.22 7 70766173C> T null R C 52 52 missense 0.995 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs749711158 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70766174G> A null R H 52 52 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1194206626 7q11.22 7 70766177G> C null G A 53 53 missense 0.991 probably damaging 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs935766151 7q11.22 7 70766183C> G null S C 55 55 missense 0.989 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs746226084 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70766192C> T null P L 58 58 missense 0.981 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,dbSNP rs1445762479 7q11.22 7 70766191C> T null P S 58 58 missense 0.74 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1184884717 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70766194C> T null P S 59 59 missense 0.93 probably damaging 0.5 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs762837573 7q11.22 7 70766207G> A null R Q 63 63 missense 0.988 probably damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1401136810 7q11.22 7 70766221C> G null Q E 68 68 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1554481763 7q11.22 7 70766227C> T null Q * 70 70 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1563183444 7q11.22 7 70766232C> G null H Q 71 71 missense 0.996 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs759371180 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70766240A> G null Q R 74 74 missense 0.986 probably damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1064795461 7q11.22 7 70766243A> T null H L 75 75 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1563183469 [ClinVar]: Corpus callosum, agenesis of 7q11.22 7 70766245A> C null T P 76 76 missense 0.961 probably damaging 0.13 tolerated 0 Corpus callosum, agenesis of MIM:217990 ClinVar:RCV000779651 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1563183469 [ClinVar]: Corpus callosum, agenesis of 7q11.22 7 70766245A> C null T P 76 76 missense 0.961 probably damaging 0.13 tolerated 0 Mental retardation, autosomal dominant 26 (MRD26) MIM:615834 ClinVar:RCV000779651 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1563183469 [ClinVar]: Corpus callosum, agenesis of 7q11.22 7 70766245A> C null T P 76 76 missense 0.961 probably damaging 0.13 tolerated 0 Multiple congenital anomalies (MCA) pubmed:20466091,ClinVar:RCV000779651 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1057518986 [ClinVar]: Pierre Robin-like syndrome 7q11.22 7 70766250C> G null H Q 77 77 missense 0.996 probably damaging 0.02 deleterious 0 Pierre Robin-like syndrome ClinVar:RCV000415119 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1563183492 [ClinVar]: Mental retardation, autosomal dominant 26 7q11.22 7 70766248C> T null H Y 77 77 missense 0.991 probably damaging 0.0 deleterious 0 Mental retardation, autosomal dominant 26 (MRD26) MIM:615834 ClinVar:RCV000708594 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1384139715 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 7q11.22 7 70766258C> T null T M 80 80 missense 0.999 probably damaging 0.04 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs542847697 7q11.22 7 70766278C> G null P A 87 87 2.0E-4 missense 0.999 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1352975576 7q11.22 7 70766279C> T null P L 87 87 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs889725302 7q11.22 7 70766287C> G null H D 90 90 missense 0.896 possibly damaging 0.13 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs889725302 7q11.22 7 70766287C> A null H N 90 90 missense 0.896 possibly damaging 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779465333 7q11.22 7 70766289C> G null H Q 90 90 missense 0.974 probably damaging 0.21 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772360830 7q11.22 7 70766290G> T null A S 91 91 missense 0.315 benign 0.81 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772360830 7q11.22 7 70766290G> A null A T 91 91 missense 0.811 possibly damaging 0.13 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs367855382 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver cosmic_study:323,cosmic_study:375 7q11.22 7 70766305G> A null A T 96 96 missense 0.214 benign 0.27 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs772644555 7q11.22 7 70766309T> C null I T 97 97 missense 0.889 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs769402743 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70766308A> G null I V 97 97 missense 0.28 benign 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1215596272 7q11.22 7 70766312T> G null M R 98 98 missense 0.862 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,dbSNP rs1359937867 7q11.22 7 70766315C> T null P L 99 99 missense 1.0 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs552275264 7q11.22 7 70766318C> T null T M 100 100 missense 0.967 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1563183632 7q11.22 7 70766326C> T null P S 103 103 missense 0.596 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1335201756 7q11.22 7 70766329C> T null P S 104 104 missense 0.069 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1318040696 7q11.22 7 70766333T> C null M T 105 105 missense 0.047 benign 0.12 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1265351646 7q11.22 7 70768026T> G null F L 106 106 missense 0.986 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761817786 7q11.22 7 70768039A> G null T A 111 111 missense 0.198 benign 0.18 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1051952947 7q11.22 7 70768051C> T null P S 115 115 missense 0.411 benign 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1477059207 7q11.22 7 70768055T> G null F C 116 116 missense 0.966 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1307879591 7q11.22 7 70768058A> G null Y C 117 117 missense 0.95 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1307879591 7q11.22 7 70768058A> C null Y S 117 117 missense 0.566 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs773674679 7q11.22 7 70768061G> A null R Q 118 118 missense 0.437 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1170346168 7q11.22 7 70768060C> T null R W 118 118 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1471741812 7q11.22 7 70768066A> G null S G 120 120 missense 0.86 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1255631422 7q11.22 7 70771562A> G null Y C 125 125 missense 0.976 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs894978620 cosmic curated [Cosmic]: endometrium cosmic_study:419 7q11.22 7 70771573G> A null V M 129 129 missense 0.455 possibly damaging 0.82 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs566822692 7q11.22 7 70771577C> T null S L 130 130 2.0E-4 missense 0.902 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs756954861 7q11.22 7 70771580G> C null G A 131 131 missense 0.793 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs756954861 7q11.22 7 70771580G> T null G V 131 131 missense 0.982 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1216496687 7q11.22 7 70771586C> T null P L 133 133 missense 0.953 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778369039 7q11.22 7 70771585C> A null P T 133 133 missense 0.899 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs199756061 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:22573403,cosmic_study:432 7q11.22 7 70771588C> G null P A 134 134 0.003195 missense 0.986 probably damaging 0.07 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs780193001 7q11.22 7 70771589C> A null P H 134 134 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199756061 7q11.22 7 70771588C> T null P S 134 134 0.003195 missense 0.99 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199756061 7q11.22 7 70771588C> A null P T 134 134 0.003195 missense 0.994 probably damaging 0.12 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141709049 7q11.22 7 70771591A> G null M V 135 135 2.0E-4 missense 0.025 benign 0.63 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs768440944 7q11.22 7 70771601C> G null P R 138 138 missense 0.984 probably damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs781065188 7q11.22 7 70771604C> T null T I 139 139 missense 0.901 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1183738885 cosmic curated [Cosmic]: stomach pubmed:22037554,cosmic_study:479 7q11.22 7 70771606G> A null G S 140 140 missense 0.986 probably damaging 0.02 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs747841534 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70771609C> T null P S 141 141 missense 0.672 possibly damaging 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,dbSNP,gnomAD rs773419852 7q11.22 7 70771640C> T null P L 151 151 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1474398792 7q11.22 7 70774029C> T null T I 153 153 missense 0.498 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs774435329 7q11.22 7 70774035A> T null N I 155 155 missense 0.942 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs774435329 7q11.22 7 70774035A> G null N S 155 155 missense 0.1 benign 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1376247808 7q11.22 7 70774038C> T null P L 156 156 missense 0.948 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1200239404 7q11.22 7 70774041T> C null I T 157 157 missense 0.675 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772634984 7q11.22 7 70774045T> A null D E 158 158 missense 0.251 benign 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs756334229 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70774043G> A null D N 158 158 missense 0.69 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs764526248 7q11.22 7 70774047T> C null V A 159 159 missense 0.342 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs764526248 7q11.22 7 70774047T> G null V G 159 159 missense 0.015 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761155089 7q11.22 7 70774046G> A null V I 159 159 missense 0.269 benign 0.21 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1203289728 7q11.22 7 70774049G> A null A T 160 160 missense 0.095 benign 0.41 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs577323013 7q11.22 7 70774055C> G null R G 162 162 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs766073543 7q11.22 7 70774056G> A null R Q 162 162 missense 0.994 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs577323013 7q11.22 7 70774055C> T null R W 162 162 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs943716124 7q11.22 7 70774074A> T null H L 168 168 missense 0.924 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs943716124 7q11.22 7 70774074A> G null H R 168 168 missense 0.924 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs754442697 7q11.22 7 70774081A> T null L F 170 170 missense 0.051 benign 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs754442697 7q11.22 7 70774081A> C null L F 170 170 missense 0.051 benign 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146659460 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 7q11.22 7 70774095C> T null P L 175 175 missense 0.952 probably damaging 0.01 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC rs753063891 7q11.22 7 70775364_70775365insCTGGTAG G null P W 180 180 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs763960642 7q11.22 7 70775376C> G null P R 183 183 missense 0.429 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1237668919 7q11.22 7 70775379T> C null M T 184 184 missense 0.003 benign 0.66 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1287819222 7q11.22 7 70775378A> G null M V 184 184 missense 0.001 benign 0.63 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1224197797 7q11.22 7 70777110G> A null G E 189 189 missense 1.0 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs760109923 7q11.22 7 70777126G> C null M I 194 194 missense 0.63 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1206101901 7q11.22 7 70777125T> C null M T 194 194 missense 0.85 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs750187638 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 7q11.22 7 70777139G> A null A T 199 199 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs886041609 7q11.22 7 70777144G> A null W * 200 200 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs758566675 7q11.22 7 70777146A> G null Q R 201 201 missense 0.963 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1160707717 7q11.22 7 70777149T> C null I T 202 202 missense 0.175 benign 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1423471265 7q11.22 7 70777166A> C null K Q 208 208 missense 0.98 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs959384891 7q11.22 7 70777169G> A null V I 209 209 missense 0.259 benign 0.69 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1200674851 7q11.22 7 70781620G> C null Q H 212 212 missense 0.995 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1490328774 7q11.22 7 70781618C> A null Q K 212 212 missense 0.964 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1271470982 7q11.22 7 70781623G> A null M I 213 213 missense 0.406 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP rs139009492 7q11.22 7 70781622T> G null M R 213 213 missense 0.852 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1403105456 7q11.22 7 70781632C> G null D E 216 216 missense 0.013 benign 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1481237630 7q11.22 7 70781630G> A null D N 216 216 missense 0.379 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs867898159 7q11.22 7 70781633C> T null P S 217 217 missense 0.9 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1190622954 7q11.22 7 70781646A> G null D G 221 221 missense 0.994 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs530622734 7q11.22 7 70781657A> C null K Q 225 225 2.0E-4 missense 0.985 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779728253 7q11.22 7 70781660C> G null P A 226 226 missense 0.923 probably damaging 0.28 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779728253 7q11.22 7 70781660C> A null P T 226 226 missense 0.948 probably damaging 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1192721397 7q11.22 7 70781667T> C null F S 228 228 missense 0.976 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs761324549 7q11.22 7 70781675C> T null R C 231 231 missense 0.555 possibly damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs769690050 7q11.22 7 70781676G> A null R H 231 231 missense 0.985 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs769690050 7q11.22 7 70781676G> T null R L 231 231 missense 0.97 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs144926407 7q11.22 7 70781678C> G null P A 232 232 missense 0.942 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs144926407 7q11.22 7 70781678C> T null P S 232 232 missense 0.675 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1563195498 7q11.22 7 70781688C> T null P L 235 235 missense 0.981 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1563195513 7q11.22 7 70781697T> C null F S 238 238 missense 0.984 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC rs570653373 7q11.22 7 70781706T> C null I T 241 241 3.99E-4 missense 0.93 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs767789525 7q11.22 7 70781708C> T null H Y 242 242 missense 0.964 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs752826428 7q11.22 7 70781713C> G null H Q 243 243 missense 0.331 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1364341660 7q11.22 7 70781714C> T null P S 244 244 missense 0.973 probably damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1260621089 7q11.22 7 70781719T> G null H Q 245 245 missense 0.181 benign 0.73 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1428746227 7q11.22 7 70781720G> A null D N 246 246 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs764564016 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 7q11.22 7 70781726G> T null A S 248 248 missense 0.781 possibly damaging 0.05 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs764564016 7q11.22 7 70781726G> A null A T 248 248 missense 0.979 probably damaging 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs757599242 7q11.22 7 70781730G> A null R Q 249 249 missense 0.982 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs748925591 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70781729C> T null R W 249 249 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1367313636 7q11.22 7 70781742T> C null L S 253 253 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779276772 7q11.22 7 70781741T> G null L V 253 253 missense 0.972 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs746177538 7q11.22 7 70781750G> A null A T 256 256 missense 0.058 benign 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs747709136 7q11.22 7 70781753G> A null A T 257 257 missense 0.238 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1260878671 7q11.22 7 70784942G> A null G D 258 258 missense 0.969 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs747807553 7q11.22 7 70784944G> A null A T 259 259 missense 0.341 benign 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1203826984 7q11.22 7 70784945C> T null A V 259 259 missense 0.112 benign 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1238687698 7q11.22 7 70784947G> A null A T 260 260 missense 0.058 benign 0.86 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1407789656 7q11.22 7 70784952C> G null H Q 261 261 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs755682279 7q11.22 7 70784951A> G null H R 261 261 missense 0.995 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs748688052 7q11.22 7 70784954C> A null P Q 262 262 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs777365587 7q11.22 7 70784953C> T null P S 262 262 missense 0.986 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1173907576 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 7q11.22 7 70784956A> G null T A 263 263 missense 0.012 benign 1.0 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1178380188 7q11.22 7 70784963C> T null T I 265 265 missense 0.283 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs745713755 7q11.22 7 70784962A> T null T S 265 265 missense 0.041 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1352802517 7q11.22 7 70784969T> C null F S 267 267 missense 0.43 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs771967688 7q11.22 7 70784975C> T null P L 269 269 missense 0.798 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1376092925 7q11.22 7 70784978C> T null P L 270 270 missense 0.19 benign 0.38 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1403494361 7q11.22 7 70784983C> G null H D 272 272 missense 0.854 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs760983452 7q11.22 7 70784992A> C null N H 275 275 missense 0.985 probably damaging 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs976637271 7q11.22 7 70784993A> G null N S 275 275 missense 0.331 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs976637271 7q11.22 7 70784993A> C null N T 275 275 missense 0.85 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1480946986 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70784998C> T null L F 277 277 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761880351 7q11.22 7 70785005C> T null P L 279 279 missense 0.264 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs199704244 7q11.22 7 70785008C> T null A V 280 280 missense 0.455 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1483994190 7q11.22 7 70785010G> A null A T 281 281 missense 0.19 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs149192549 7q11.22 7 70785964A> G null N S 287 287 missense 0.058 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs774705600 7q11.22 7 70785967G> C null R P 288 288 missense 0.974 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs774705600 7q11.22 7 70785967G> A null R Q 288 288 missense 0.928 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs759994021 7q11.22 7 70785970C> T null P L 289 289 missense 0.904 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs775953543 7q11.22 7 70785972T> C null S P 290 290 missense 0.003 benign 0.26 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1244512393 7q11.22 7 70785975A> G null T A 291 291 missense 0.241 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372998593 7q11.22 7 70785981A> C null T P 293 293 2.0E-4 missense 0.583 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs905999697 7q11.22 7 70785990G> C null A P 296 296 missense 0.83 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1410280290 7q11.22 7 70785993G> A null A T 297 297 missense 0.122 benign 0.44 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201229021 7q11.22 7 70786006A> G null N S 301 301 2.0E-4 missense 0.025 benign 0.6 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,dbSNP,gnomAD rs770211572 7q11.22 7 70786014G> A null G R 304 304 missense 0.942 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs766391532 7q11.22 7 70786018G> C null G A 305 305 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs766391532 7q11.22 7 70786018G> A null G E 305 305 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs747879933 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:376,cosmic_study:452 7q11.22 7 70786035G> A null V I 311 311 missense 0.506 possibly damaging 0.08 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1028656252 7q11.22 7 70787212C> G null P R 313 313 missense 0.846 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1369948699 7q11.22 7 70787216C> G null N K 314 314 missense 0.899 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1165282876 7q11.22 7 70787215A> G null N S 314 314 missense 0.337 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs745899098 7q11.22 7 70787217T> C null S P 315 315 missense 0.931 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs537105723 7q11.22 7 70787222G> A null M I 316 316 2.0E-4 missense 0.003 benign 0.87 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1226690190 7q11.22 7 70787221T> C null M T 316 316 missense 0.018 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1158235085 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70787220A> G null M V 316 316 missense 0.0 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1437453235 7q11.22 7 70787223T> G null F V 317 317 missense 0.596 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs747429714 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70787226G> A null G S 318 318 missense 0.369 benign 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1397089237 7q11.22 7 70787233A> G null K R 320 320 missense 0.939 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1361039805 7q11.22 7 70787236A> G null D G 321 321 missense 0.857 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,gnomAD rs147106727 7q11.22 7 70787235G> A null D N 321 321 missense 0.857 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367838374 7q11.22 7 70787239G> A null G D 322 322 missense 0.246 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs777099881 7q11.22 7 70787242C> G null P R 323 323 missense 0.933 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1267112202 7q11.22 7 70787244A> G null S G 324 324 missense 0.065 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs759084342 7q11.22 7 70787248T> C null V A 325 325 missense 0.022 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs773739644 7q11.22 7 70787247G> A null V M 325 325 missense 0.077 benign 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs760502563 7q11.22 7 70787264C> G null N K 330 330 missense 0.255 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs760502563 7q11.22 7 70787264C> A null N K 330 330 missense 0.255 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs752606916 7q11.22 7 70787263A> C null N T 330 330 missense 0.077 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1258122802 7q11.22 7 70787269A> C null H P 332 332 missense 0.028 benign 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs763907536 7q11.22 7 70787270C> G null H Q 332 332 missense 0.146 benign 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1258122802 7q11.22 7 70787269A> G null H R 332 332 missense 0.58 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1479195481 7q11.22 7 70787271G> C null E Q 333 333 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201841605 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23856246,cosmic_study:504 7q11.22 7 70787275C> T null P L 334 334 missense 0.98 probably damaging 0.0 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs750532676 7q11.22 7 70787284G> A null R Q 337 337 missense 0.996 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779121870 7q11.22 7 70787283C> T null R W 337 337 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1466570042 7q11.22 7 70787291C> G null H Q 339 339 missense 0.962 probably damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs758533465 7q11.22 7 70787293G> A null R Q 340 340 missense 0.689 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs961419320 7q11.22 7 70787295A> G null T A 341 341 missense 0.011 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs780749241 7q11.22 7 70787296C> T null T M 341 341 missense 0.839 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs961419320 7q11.22 7 70787295A> C null T P 341 341 missense 0.636 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs868207585 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70787305C> T null S L 344 344 missense 0.788 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs781425098 7q11.22 7 70787304T> C null S P 344 344 missense 0.943 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1311127815 7q11.22 7 70787311C> T null P L 346 346 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs770558391 7q11.22 7 70787310C> T null P S 346 346 missense 0.998 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs759015569 7q11.22 7 70787317C> T null P L 348 348 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1252233387 7q11.22 7 70787322C> T null P S 350 350 missense 0.998 probably damaging 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs867861925 7q11.22 7 70787325T> C null W R 351 351 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1183556876 7q11.22 7 70787338G> A null G E 355 355 missense 0.982 probably damaging 0.28 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs942210356 7q11.22 7 70787340G> A null E K 356 356 missense 0.546 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs990972744 7q11.22 7 70787341A> T null E V 356 356 missense 0.57 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372882374 7q11.22 7 70787349C> T null R C 359 359 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs150219264 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 7q11.22 7 70787350G> A null R H 359 359 missense 0.996 probably damaging 0.02 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs150219264 7q11.22 7 70787350G> T null R L 359 359 missense 0.994 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1433843969 7q11.22 7 70787352A> T null S C 360 360 missense 0.987 probably damaging 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1353332565 7q11.22 7 70787355G> A null A T 361 361 missense 0.015 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761661914 7q11.22 7 70787356C> T null A V 361 361 missense 0.266 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs750630131 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70787361G> A null A T 363 363 missense 0.748 possibly damaging 0.27 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs780307747 7q11.22 7 70787365C> T null A V 364 364 missense 0.061 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs751635272 7q11.22 7 70787368C> A null A D 365 365 missense 0.669 possibly damaging 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs751635272 7q11.22 7 70787368C> G null A G 365 365 missense 0.492 possibly damaging 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs755547003 7q11.22 7 70787371A> G null H R 366 366 missense 0.365 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1191155682 7q11.22 7 70787377G> A null R K 368 368 missense 0.647 possibly damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs748520514 7q11.22 7 70787381T> G null D E 369 369 missense 0.042 benign 0.86 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1554487952 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 7q11.22 7 70787397C> T null R * 375 375 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs778469209 7q11.22 7 70787398G> A null R Q 375 375 missense 0.071 benign 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs200188572 7q11.22 7 70787423C> G null D E 383 383 missense 0.875 possibly damaging 0.84 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1219887883 7q11.22 7 70787421G> A null D N 383 383 missense 0.91 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1244868633 7q11.22 7 70787427G> A null E K 385 385 missense 0.879 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC rs771663725 7q11.22 7 70787431G> A null R K 386 386 missense 0.979 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs757602384 7q11.22 7 70789749G> A null E K 387 387 missense 0.066 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs904867931 7q11.22 7 70789753G> A null S N 388 388 missense 0.034 benign 0.49 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs751246676 7q11.22 7 70789755G> A null V I 389 389 missense 0.03 benign 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs560607073 7q11.22 7 70789758G> A null E K 390 390 2.0E-4 missense 0.885 possibly damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs747549575 7q11.22 7 70789764A> G null R G 392 392 missense 0.99 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1009447114 7q11.22 7 70789766A> T null R S 392 392 missense 0.99 probably damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs769837415 7q11.22 7 70789768A> C null H P 393 393 missense 0.996 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201055436 7q11.22 7 70789769C> G null H Q 393 393 2.0E-4 missense 0.994 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs769837415 7q11.22 7 70789768A> G null H R 393 393 missense 0.99 probably damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs954683613 7q11.22 7 70789774G> T null S I 395 395 missense 0.952 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1270059647 7q11.22 7 70789775C> A null S R 395 395 missense 0.899 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1487901851 7q11.22 7 70789776C> A null H N 396 396 missense 0.986 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1187487100 7q11.22 7 70789780C> T null P L 397 397 missense 0.001 benign 0.18 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1460005573 7q11.22 7 70789779C> T null P S 397 397 missense 0.05 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs774246179 7q11.22 7 70789788G> A null A T 400 400 missense 0.647 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371248372 7q11.22 7 70789795T> C null V A 402 402 missense 0.029 benign 0.81 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs760663281 7q11.22 7 70789800C> G null P A 404 404 missense 0.216 benign 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1017455957 7q11.22 7 70789801C> T null P L 404 404 missense 0.481 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1017455957 7q11.22 7 70789801C> A null P Q 404 404 missense 0.107 benign 0.25 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs531794766 7q11.22 7 70789813T> C null L P 408 408 2.0E-4 missense 0.974 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs200504524 7q11.22 7 70789815G> A null G R 409 409 2.0E-4 missense 0.982 probably damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1286213604 7q11.22 7 70789818C> T null H Y 410 410 missense 0.889 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1350143010 7q11.22 7 70789822C> A null T N 411 411 missense 0.003 benign 0.6 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs750997066 7q11.22 7 70789824C> T null R C 412 412 missense 0.997 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs973467545 7q11.22 7 70789825G> A null R H 412 412 missense 0.996 probably damaging 0.22 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1290391608 7q11.22 7 70789840A> G null Q R 417 417 missense 0.014 benign 0.42 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs780708729 7q11.22 7 70789846G> C null R P 419 419 missense 0.998 probably damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs754666556 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70789845C> T null R W 419 419 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1202921547 7q11.22 7 70789849C> G null A G 420 420 missense 0.0 benign 0.57 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1444618532 7q11.22 7 70789848G> T null A S 420 420 missense 0.009 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs201559855 7q11.22 7 70789852A> T null H L 421 421 missense 0.719 possibly damaging 0.12 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs201559855 7q11.22 7 70789852A> G null H R 421 421 missense 0.57 possibly damaging 0.22 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1276734994 7q11.22 7 70789855T> C null L P 422 422 missense 0.988 probably damaging 0.3 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs755558019 7q11.22 7 70789858A> C null N T 423 423 missense 0.083 benign 0.56 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs562632912 7q11.22 7 70789861C> T null T I 424 424 2.0E-4 missense 0.137 benign 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs770941644 7q11.22 7 70789867C> A null A D 426 426 missense 0.32 benign 0.62 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs770941644 7q11.22 7 70789867C> G null A G 426 426 missense 0.137 benign 0.44 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199657836 7q11.22 7 70789869C> G null R G 427 427 2.0E-4 missense 0.03 benign 0.47 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs745581942 7q11.22 7 70789870G> C null R P 427 427 missense 0.089 benign 0.13 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs199657836 7q11.22 7 70789869C> T null R W 427 427 2.0E-4 missense 0.96 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs146682239 7q11.22 7 70789880C> G null D E 430 430 0.003195 missense 0.013 benign 0.86 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1369741838 7q11.22 7 70789878G> A null D N 430 430 missense 0.52 possibly damaging 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs768689013 7q11.22 7 70789888A> G null K R 433 433 missense 0.991 probably damaging 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1232698720 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70789890G> C null E Q 434 434 missense 0.542 possibly damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs765669602 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 7q11.22 7 70789897A> G null E G 436 436 missense 0.672 possibly damaging 0.05 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1163695433 7q11.22 7 70789900G> C null R T 437 437 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs773697450 7q11.22 7 70789902G> T null D Y 438 438 missense 0.598 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs534033649 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70789909C> T null S L 440 440 2.0E-4 missense 0.356 benign 0.24 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs534033649 [ClinVar]: Mental retardation, autosomal dominant 26 7q11.22 7 70789909C> G null S W 440 440 2.0E-4 missense 0.965 probably damaging 0.01 deleterious 0 Mental retardation, autosomal dominant 26 (MRD26) MIM:615834 ClinVar:RCV001250575 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs976081207 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 7q11.22 7 70789917C> T null R C 443 443 missense 0.878 possibly damaging 0.13 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138775036 7q11.22 7 70789918G> A null R H 443 443 2.0E-4 missense 0.784 possibly damaging 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138775036 7q11.22 7 70789918G> T null R L 443 443 2.0E-4 missense 0.464 possibly damaging 0.69 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs763718023 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70789921A> G null K R 444 444 missense 0.041 benign 0.75 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1377728531 7q11.22 7 70789926C> G null L V 446 446 missense 0.086 benign 0.63 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141876742 7q11.22 7 70789932G> A null A T 448 448 2.0E-4 missense 0.0 benign 0.69 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1389406582 7q11.22 7 70789933C> T null A V 448 448 missense 0.001 benign 0.38 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs936382256 7q11.22 7 70789936A> C null D A 449 449 missense 0.033 benign 0.93 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369119031 7q11.22 7 70789937C> G null D E 449 449 missense 0.0 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369119031 7q11.22 7 70789937C> A null D E 449 449 missense 0.0 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs936382256 7q11.22 7 70789936A> G null D G 449 449 missense 0.046 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs758102358 7q11.22 7 70789935G> A null D N 449 449 missense 0.052 benign 0.24 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1324407316 7q11.22 7 70789938G> A null E K 450 450 missense 0.095 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs776699634 7q11.22 7 70789947G> T null A S 453 453 missense 0.194 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed rs748225756 7q11.22 7 70789948C> T null A V 453 453 missense 0.02 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs763418721 7q11.22 7 70789955G> C null E D 455 455 missense 0.005 benign 0.26 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs773570392 7q11.22 7 70789954A> G null E G 455 455 missense 0.318 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1284338668 7q11.22 7 70789960A> T null H L 457 457 missense 0.033 benign 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1303977599 7q11.22 7 70789959C> T null H Y 457 457 missense 0.003 benign 0.25 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1051457112 7q11.22 7 70789966C> T null P L 459 459 missense 0.003 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs774731574 7q11.22 7 70789968G> A null E K 460 460 missense 0.014 benign 0.82 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1324595939 7q11.22 7 70789971A> G null K E 461 461 missense 0.169 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs946416893 7q11.22 7 70789972A> G null K R 461 461 missense 0.006 benign 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1469423323 7q11.22 7 70789976C> A null D E 462 462 missense 0.069 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs576715792 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23396385,cosmic_study:459 7q11.22 7 70789977G> A null G R 463 463 missense 0.129 benign 0.2 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs576715792 7q11.22 7 70789977G> T null G W 463 463 missense 0.638 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1260201399 7q11.22 7 70789980C> T null H Y 464 464 missense 0.49 possibly damaging 0.52 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1449975429 7q11.22 7 70789983G> A null G S 465 465 missense 0.01 benign 0.79 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs765267651 7q11.22 7 70789989G> A null E K 467 467 missense 0.204 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1164066489 7q11.22 7 70789992G> C null G R 468 468 missense 0.326 benign 0.68 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1164066489 7q11.22 7 70789992G> T null G W 468 468 missense 0.667 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs758313517 7q11.22 7 70789995C> T null R C 469 469 missense 0.938 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779729601 7q11.22 7 70789996G> A null R H 469 469 missense 0.938 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs758313517 7q11.22 7 70789995C> A null R S 469 469 missense 0.736 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1437864529 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70789998G> A null A T 470 470 missense 0.005 benign 0.62 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs867675903 7q11.22 7 70789999_70790000delinsT T null A V 470 470 missense 0.011 benign 0.37 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs200872171 7q11.22 7 70790002C> G null A G 471 471 2.0E-4 missense 0.011 benign 0.21 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1340261250 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790001G> A null A T 471 471 missense 0.007 benign 0.15 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs200872171 7q11.22 7 70790002C> T null A V 471 471 2.0E-4 missense 0.007 benign 0.22 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769836595 7q11.22 7 70790005G> A null G D 472 472 missense 0.022 benign 0.18 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1336473194 7q11.22 7 70790004G> A null G S 472 472 missense 0.0 benign 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs749784668 7q11.22 7 70790007G> A null E K 473 473 missense 0.749 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1188234927 7q11.22 7 70790013G> A null A T 475 475 missense 0.022 benign 0.6 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs771409160 7q11.22 7 70790016A> G null K E 476 476 missense 0.236 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs774580940 7q11.22 7 70790017A> G null K R 476 476 missense 0.394 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1471720771 7q11.22 7 70790023T> C null L P 478 478 missense 0.113 benign 0.27 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs761448632 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 7q11.22 7 70790029G> A null R Q 480 480 missense 0.588 possibly damaging 0.26 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs776400671 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790028C> T null R W 480 480 missense 0.913 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs764683823 7q11.22 7 70790035C> T null P L 482 482 missense 0.886 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1397035425 7q11.22 7 70790037T> C null S P 483 483 missense 0.994 probably damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1024325794 7q11.22 7 70790041C> T null P L 484 484 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs766336613 7q11.22 7 70790040C> T null P S 484 484 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs781437098 7q11.22 7 70790046G> C null V L 486 486 missense 0.001 benign 0.48 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs781437098 7q11.22 7 70790046G> T null V L 486 486 missense 0.001 benign 0.48 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs781437098 7q11.22 7 70790046G> A null V M 486 486 missense 0.006 benign 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs756314192 7q11.22 7 70790050G> A null R Q 487 487 missense 0.883 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1254253472 7q11.22 7 70790053C> T null T I 488 488 missense 0.003 benign 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs749321104 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790056C> T null P L 489 489 missense 0.481 possibly damaging 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs749321104 7q11.22 7 70790056C> G null P R 489 489 missense 0.826 possibly damaging 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1200874136 7q11.22 7 70790055C> T null P S 489 489 missense 0.099 benign 0.48 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1424579758 7q11.22 7 70790062T> C null V A 491 491 missense 0.001 benign 0.76 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1181305637 7q11.22 7 70790061G> A null V M 491 491 missense 0.014 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1412887933 7q11.22 7 70790065A> G null E G 492 492 missense 0.098 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs779458839 7q11.22 7 70790071C> A null A D 494 494 missense 0.034 benign 0.62 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1174024336 7q11.22 7 70790075G> T null R S 495 495 missense 0.99 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1377601842 7q11.22 7 70790077C> T null P L 496 496 missense 0.73 possibly damaging 0.69 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772532630 7q11.22 7 70790080A> G null N S 497 497 missense 0.453 possibly damaging 0.71 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs775955641 7q11.22 7 70790082A> G null S G 498 498 missense 0.014 benign 0.61 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1409537915 7q11.22 7 70790083G> T null S I 498 498 missense 0.905 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs983090024 7q11.22 7 70790085A> C null T P 499 499 missense 0.271 benign 0.24 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1222450896 7q11.22 7 70790089C> T null S L 500 500 missense 0.005 benign 0.36 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs867456597 7q11.22 7 70790092G> T null S I 501 501 missense 0.62 possibly damaging 0.16 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1225032496 7q11.22 7 70790095G> A null R Q 502 502 missense 0.869 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,TOPMed,gnomAD rs369710317 7q11.22 7 70790094C> T null R W 502 502 missense 0.104 benign 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761578895 7q11.22 7 70790099G> C null E D 503 503 missense 0.011 benign 0.45 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs866376248 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790101C> T null A V 504 504 missense 0.003 benign 0.35 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs980386241 7q11.22 7 70790103G> A null E K 505 505 missense 0.332 benign 0.2 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs772666638 7q11.22 7 70790106C> G null P A 506 506 missense 0.009 benign 0.25 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs146263446 7q11.22 7 70790107C> T null P L 506 506 missense 0.182 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs146263446 7q11.22 7 70790107C> A null P Q 506 506 missense 0.017 benign 0.15 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs565156541 7q11.22 7 70790110G> A null R H 507 507 missense 0.909 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs565156541 7q11.22 7 70790110G> T null R L 507 507 missense 0.618 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs565156541 7q11.22 7 70790110G> C null R P 507 507 missense 0.875 possibly damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1421472648 7q11.22 7 70790116G> A null G D 509 509 missense 0.033 benign 0.6 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1481727765 7q11.22 7 70790115G> A null G S 509 509 missense 0.006 benign 0.76 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs946551219 7q11.22 7 70790119A> G null E G 510 510 missense 0.91 probably damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs767324991 7q11.22 7 70790121C> G null P A 511 511 missense 0.0 benign 0.5 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1266794556 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 7q11.22 7 70790122C> T null P L 511 511 missense 0.0 benign 0.57 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs767324991 7q11.22 7 70790121C> T null P S 511 511 missense 0.031 benign 0.51 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs767324991 7q11.22 7 70790121C> A null P T 511 511 missense 0.022 benign 0.45 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113194983 7q11.22 7 70790129C> G null Y * 513 513 0.004992 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1169614213 7q11.22 7 70790134A> T null N I 515 515 missense 0.421 benign 0.45 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778048697 7q11.22 7 70790137C> A null P H 516 516 missense 0.895 possibly damaging 0.41 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778048697 7q11.22 7 70790137C> G null P R 516 516 missense 0.488 possibly damaging 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs753920054 7q11.22 7 70790142A> G null K E 518 518 missense 0.991 probably damaging 0.66 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs200059796 7q11.22 7 70790145A> G null S G 519 519 missense 0.0 benign 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs757333667 7q11.22 7 70790146G> T null S I 519 519 missense 0.241 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,TOPMed rs373094910 7q11.22 7 70790147C> G null S R 519 519 missense 0.067 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs757333667 7q11.22 7 70790146G> C null S T 519 519 missense 0.033 benign 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1339956624 7q11.22 7 70790149C> T null S F 520 520 missense 0.323 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1305619236 7q11.22 7 70790148T> C null S P 520 520 missense 0.001 benign 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs747213045 7q11.22 7 70790151G> A null E K 521 521 missense 0.848 possibly damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1270749380 7q11.22 7 70790155T> C null V A 522 522 missense 0.826 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs772657089 7q11.22 7 70790154G> A null V I 522 522 missense 0.203 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769391491 7q11.22 7 70790160G> T null V L 524 524 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769391491 7q11.22 7 70790160G> A null V M 524 524 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1284239237 7q11.22 7 70790163A> G null K E 525 525 missense 0.648 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs770510009 cosmic curated [Cosmic]: large_intestine cosmic_study:376 7q11.22 7 70790173G> A null R Q 528 528 missense 0.767 possibly damaging 0.04 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs748790164 7q11.22 7 70790172C> T null R W 528 528 missense 0.96 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1056492547 7q11.22 7 70790175A> G null K E 529 529 missense 0.991 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,gnomAD rs377538146 7q11.22 7 70790181G> A null D N 531 531 missense 0.205 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,gnomAD rs377538146 7q11.22 7 70790181G> T null D Y 531 531 missense 0.714 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs759486465 7q11.22 7 70790185A> G null H R 532 532 missense 0.296 benign 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,TOPMed,gnomAD rs369801854 7q11.22 7 70790184C> T null H Y 532 532 missense 0.642 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs943242452 7q11.22 7 70790188A> C null D A 533 533 missense 0.647 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs150548501 7q11.22 7 70790194C> T null P L 535 535 missense 0.022 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1317631817 7q11.22 7 70790193C> T null P S 535 535 missense 0.022 benign 0.49 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs879243300 7q11.22 7 70790200A> C null E A 537 537 missense 0.57 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs775328536 7q11.22 7 70790199G> C null E Q 537 537 missense 0.736 possibly damaging 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,TOPMed rs554881140 7q11.22 7 70790203C> A null A D 538 538 2.0E-4 missense 0.677 possibly damaging 0.35 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs374548780 7q11.22 7 70790206C> T null P L 539 539 missense 0.052 benign 0.15 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs374548780 7q11.22 7 70790206C> G null P R 539 539 missense 0.299 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1026130789 7q11.22 7 70790217C> G null R G 543 543 missense 0.736 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1266287610 7q11.22 7 70790218G> A null R Q 543 543 missense 0.755 possibly damaging 0.21 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs543645962 7q11.22 7 70790224C> T null S L 545 545 2.0E-4 missense 0.057 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs543645962 7q11.22 7 70790224C> G null S W 545 545 2.0E-4 missense 0.747 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs750470894 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790230C> T null P L 547 547 missense 0.129 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139511589 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 7q11.22 7 70790233C> T null P L 548 548 missense 0.025 benign 0.25 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs755339567 7q11.22 7 70790238C> G null P A 550 550 missense 0.997 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1211320003 7q11.22 7 70790242A> G null N S 551 551 missense 0.001 benign 0.87 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,gnomAD rs375599992 7q11.22 7 70790245C> T null S F 552 552 missense 0.864 possibly damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1445624768 7q11.22 7 70790248C> T null S L 553 553 missense 0.204 benign 0.23 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs745375336 7q11.22 7 70790250T> A null S T 554 554 missense 0.033 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs772052092 7q11.22 7 70790253A> G null S G 555 555 missense 0.0 benign 0.47 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1286632609 7q11.22 7 70790254G> T null S I 555 555 missense 0.083 benign 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs970084721 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23856246,cosmic_study:504 7q11.22 7 70790256G> A null V M 556 556 missense 0.635 possibly damaging 0.1 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1287023573 7q11.22 7 70790261C> G null H Q 557 557 missense 0.77 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs144860288 7q11.22 7 70790259C> T null H Y 557 557 missense 0.67 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs763979959 7q11.22 7 70790263C> T null P L 558 558 missense 0.001 benign 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1220228952 7q11.22 7 70790262C> T null P S 558 558 missense 0.007 benign 0.34 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1238444260 7q11.22 7 70790268C> T null P S 560 560 missense 0.778 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs776239694 7q11.22 7 70790275C> A null A D 562 562 missense 0.496 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs776239694 7q11.22 7 70790275C> T null A V 562 562 missense 0.018 benign 0.24 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs765487153 7q11.22 7 70790280A> G null M V 564 564 missense 0.006 benign 0.48 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1472015866 7q11.22 7 70790283C> G null P A 565 565 missense 0.069 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs544784004 7q11.22 7 70790284C> A null P H 565 565 2.0E-4 missense 0.964 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs544784004 7q11.22 7 70790284C> T null P L 565 565 2.0E-4 missense 0.826 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1472015866 7q11.22 7 70790283C> T null P S 565 565 missense 0.592 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs758531526 7q11.22 7 70790290C> T null T M 567 567 missense 0.669 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1173628813 7q11.22 7 70790298G> T null V L 570 570 missense 0.031 benign 0.22 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs755394081 7q11.22 7 70790302C> T null T M 571 571 missense 0.36 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs866178263 7q11.22 7 70790305G> A null G D 572 572 missense 0.943 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1443083015 7q11.22 7 70790307A> G null I V 573 573 missense 0.019 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs756973112 7q11.22 7 70790313C> T null P S 575 575 missense 0.098 benign 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs756973112 7q11.22 7 70790313C> A null P T 575 575 missense 0.131 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1350504764 7q11.22 7 70790326T> G null I S 579 579 missense 0.836 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1238333817 7q11.22 7 70790328A> G null S G 580 580 missense 0.0 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs771535030 7q11.22 7 70790332G> C null S T 581 581 missense 0.269 benign 0.67 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs988960317 7q11.22 7 70790335T> C null L P 582 582 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1482513220 7q11.22 7 70790334C> G null L V 582 582 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1181959724 7q11.22 7 70790339C> A null D E 583 583 missense 0.203 benign 0.3 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1272065983 7q11.22 7 70790343A> G null T A 585 585 missense 0.954 probably damaging 0.44 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs768420169 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 7q11.22 7 70790346C> T null R C 586 586 missense 0.997 probably damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs776489400 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 7q11.22 7 70790347G> A null R H 586 586 missense 0.996 probably damaging 0.01 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1395540395 7q11.22 7 70790350T> C null M T 587 587 missense 0.546 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs761501069 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 7q11.22 7 70790354G> A null M I 588 588 missense 0.003 benign 0.19 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs988441031 7q11.22 7 70790353T> C null M T 588 588 missense 0.022 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1166458226 7q11.22 7 70790356C> A null T N 589 589 missense 0.73 possibly damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs770191694 7q11.22 7 70790358C> G null P A 590 590 missense 0.997 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs773537161 7q11.22 7 70790365T> C null M T 592 592 missense 0.546 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1392214902 7q11.22 7 70790364A> G null M V 592 592 missense 0.028 benign 0.1 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs866677721 7q11.22 7 70790368G> A null G D 593 593 missense 1.0 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes rs527325057 7q11.22 7 70790379C> T null L F 597 597 2.0E-4 missense 0.308 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs766592601 7q11.22 7 70790383C> T null P L 598 598 missense 0.975 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs911670984 7q11.22 7 70790386G> A null G D 599 599 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1057522609 [ClinVar]: Chromosome 15q11-q13 duplication syndrome 7q11.22 7 70790385G> A null G S 599 599 missense 0.997 probably damaging 0.02 deleterious 0 Chromosome 15q11-q13 duplication syndrome 15q duplication syndrome and related disorders (dup15q) are caused by presence of at least one extra maternally derived copy of the Prader-Willi/Angelman critical region (PWACR) within chromosome 15q11. MIM:608636 pubmed:27308687,ClinVar:RCV000678333 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs760096118 7q11.22 7 70790388G> A null G R 600 600 missense 0.91 probably damaging 0.61 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1196040328 7q11.22 7 70790395G> A null R H 602 602 missense 0.996 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1039141349 7q11.22 7 70790398T> C null F S 603 603 missense 0.988 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1449385103 7q11.22 7 70790401C> T null P L 604 604 missense 0.406 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a dbSNP,gnomAD rs1057521756 7q11.22 7 70790400C> T null P S 604 604 missense 0.973 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC rs753160423 7q11.22 7 70790420G> C null W C 610 610 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374055596 7q11.22 7 70790425C> G null P R 612 612 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1186548561 7q11.22 7 70790431G> T null R L 614 614 missense 0.769 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1455506276 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790430C> T null R W 614 614 missense 0.065 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778572856 7q11.22 7 70790433G> C null D H 615 615 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1169875410 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790448C> T null P S 620 620 missense 0.994 probably damaging 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs750104446 7q11.22 7 70790454C> T null R * 622 622 stop gained 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs750104446 7q11.22 7 70790454C> G null R G 622 622 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs779628884 7q11.22 7 70790455G> T null R L 622 622 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs768704037 7q11.22 7 70790467T> G null I S 626 626 missense 0.031 benign 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1312973318 7q11.22 7 70790478G> A null D N 630 630 missense 0.942 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1453210016 7q11.22 7 70790482C> G null P R 631 631 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1180084203 7q11.22 7 70790487G> A null G S 633 633 missense 0.169 benign 0.02 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs939046841 7q11.22 7 70790498C> G null F L 636 636 missense 0.015 benign 0.67 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs930577652 7q11.22 7 70790500T> G null L R 637 637 missense 0.974 probably damaging 0.32 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1212563990 7q11.22 7 70790505A> G null R G 639 639 missense 0.009 benign 0.08 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1354453918 7q11.22 7 70790509A> T null N I 640 640 missense 0.067 benign 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs763284520 7q11.22 7 70790514C> G null P A 642 642 missense 0.487 possibly damaging 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs555021087 7q11.22 7 70790515C> T null P L 642 642 2.0E-4 missense 0.606 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs555021087 7q11.22 7 70790515C> A null P Q 642 642 2.0E-4 missense 0.974 probably damaging 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1294170956 7q11.22 7 70790520C> T null H Y 644 644 missense 0.851 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs759524736 7q11.22 7 70790524G> A null R Q 645 645 missense 0.979 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1165877220 7q11.22 7 70790535C> G null P A 649 649 missense 0.997 probably damaging 0.19 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1165877220 7q11.22 7 70790535C> A null P T 649 649 missense 0.998 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs761126035 7q11.22 7 70790539G> A null R Q 650 650 missense 0.267 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1396814042 7q11.22 7 70790538C> T null R W 650 650 missense 0.989 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1384336956 7q11.22 7 70790547G> A null E K 653 653 missense 0.885 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1427531483 7q11.22 7 70790551C> G null A G 654 654 missense 0.994 probably damaging 0.34 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1340203182 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790553G> A null D N 655 655 missense 0.104 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1340203182 7q11.22 7 70790553G> T null D Y 655 655 missense 0.946 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs370456436 7q11.22 7 70790557G> A null R H 656 656 missense 0.703 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs751130860 7q11.22 7 70790560C> G null S C 657 657 missense 0.983 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs751130860 7q11.22 7 70790560C> T null S F 657 657 missense 0.952 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs754417763 7q11.22 7 70790562T> C null F L 658 658 missense 0.389 benign 0.15 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1226035348 7q11.22 7 70790566G> A null R K 659 659 missense 0.725 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs780713561 7q11.22 7 70790576G> T null E D 662 662 missense 0.987 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1260130552 7q11.22 7 70790574G> C null E Q 662 662 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs748120181 7q11.22 7 70790582C> G null H Q 664 664 missense 0.706 possibly damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1213723520 7q11.22 7 70790581A> G null H R 664 664 missense 0.439 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs866904889 7q11.22 7 70790590G> A null S N 667 667 missense 0.003 benign 0.76 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs35604576 7q11.22 7 70790591C> G null S R 667 667 missense 0.308 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs756061374 7q11.22 7 70790593A> G null H R 668 668 missense 0.451 possibly damaging 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs868446843 7q11.22 7 70790599A> C null H P 670 670 missense 0.001 benign 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1364931137 7q11.22 7 70790602A> G null H R 671 671 missense 0.01 benign 0.29 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs865932880 7q11.22 7 70790605A> C null H P 672 672 missense 0.003 benign 0.06 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs749092558 7q11.22 7 70790604C> T null H Y 672 672 missense 0.526 possibly damaging 0.01 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs867872684 7q11.22 7 70790608A> C null H P 673 673 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1184910197 7q11.22 7 70790612C> G null H Q 674 674 missense 0.526 possibly damaging 0.18 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1415274627 7q11.22 7 70790614A> C null H P 675 675 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1415705404 7q11.22 7 70790615C> A null H Q 675 675 missense 0.326 benign 0.02 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1313184148 7q11.22 7 70790617C> T null P L 676 676 missense 0.104 benign 0.0 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs772071144 7q11.22 7 70790620T> C null L P 677 677 missense 0.997 probably damaging 0.16 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs764517497 7q11.22 7 70790628G> T null D Y 680 680 missense 0.952 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs762069191 7q11.22 7 70790632C> T null P L 681 681 missense 0.794 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375948367 7q11.22 7 70790631C> T null P S 681 681 missense 0.736 possibly damaging 0.13 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375948367 7q11.22 7 70790631C> A null P T 681 681 missense 0.794 possibly damaging 0.05 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs145671325 7q11.22 7 70790635G> T null R L 682 682 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs145671325 7q11.22 7 70790635G> A null R Q 682 682 missense 0.99 probably damaging 0.06 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1259950854 7q11.22 7 70790638G> A null R Q 683 683 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs754611047 7q11.22 7 70790644A> G null H R 685 685 missense 0.296 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371317370 7q11.22 7 70790650G> C null R P 687 687 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371317370 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790650G> A null R Q 687 687 missense 0.99 probably damaging 0.01 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs752192412 7q11.22 7 70790649C> T null R W 687 687 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150926322 7q11.22 7 70790653G> C null G A 688 688 0.002995 missense 0.146 benign 1.0 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150926322 7q11.22 7 70790653G> A null G E 688 688 0.002995 missense 0.918 probably damaging 0.76 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs756968287 7q11.22 7 70790652G> A null G R 688 688 missense 0.961 probably damaging 0.7 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150926322 7q11.22 7 70790653G> T null G V 688 688 0.002995 missense 0.085 benign 0.54 tolerated - low confidence 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs747086851 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 7q11.22 7 70790655G> A null G S 689 689 missense 0.029 benign 0.78 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1020426087 7q11.22 7 70790658C> A null H N 690 690 missense 0.465 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1297199327 7q11.22 7 70790664G> A null D N 692 692 missense 0.794 possibly damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1392559268 7q11.22 7 70790667G> A null E K 693 693 missense 0.749 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs769208197 7q11.22 7 70790670C> G null R G 694 694 missense 0.94 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs769208197 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790670C> T null R W 694 694 missense 0.989 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374217111 7q11.22 7 70790676C> T null R C 696 696 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1234817815 7q11.22 7 70790677G> T null R L 696 696 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs1563204510 7q11.22 7 70790683A> C null H P 698 698 missense 0.526 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs762343901 7q11.22 7 70790685A> G null M V 699 699 missense 0.0 benign 0.34 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl rs911635138 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 7q11.22 7 70790697G> A null D N 703 703 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,TOPMed rs539075491 7q11.22 7 70790700T> C null Y H 704 704 2.0E-4 missense 0.904 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,TOPMed rs539075491 7q11.22 7 70790700T> A null Y N 704 704 2.0E-4 missense 0.791 possibly damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1252038479 7q11.22 7 70790704A> G null E G 705 705 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1204105147 7q11.22 7 70790703G> A null E K 705 705 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs773568699 7q11.22 7 70790710C> T null T M 707 707 missense 0.235 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs773568699 7q11.22 7 70790710C> G null T R 707 707 missense 0.07 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1168188278 7q11.22 7 70790712C> G null R G 708 708 missense 0.02 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,gnomAD rs376868075 7q11.22 7 70790713G> T null R L 708 708 missense 0.02 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,NCI-TCGA,gnomAD rs376868075 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 7q11.22 7 70790713G> A null R Q 708 708 missense 0.781 possibly damaging 0.0 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1214271334 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 7q11.22 7 70790715C> T null L F 709 709 missense 0.997 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1214271334 7q11.22 7 70790715C> G null L V 709 709 missense 0.99 probably damaging 0.05 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1428231776 7q11.22 7 70790719A> T null H L 710 710 missense 0.974 probably damaging 0.25 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1295985025 7q11.22 7 70790718C> T null H Y 710 710 missense 0.974 probably damaging 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs764164239 7q11.22 7 70790721T> G null S A 711 711 missense 0.003 benign 0.85 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs757165955 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23917401,cosmic_study:329,cosmic_study:552 7q11.22 7 70790724G> A null V M 712 712 missense 0.104 benign 0.42 tolerated 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778581827 7q11.22 7 70790727C> T null H Y 713 713 missense 0.255 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs553980730 7q11.22 7 70790736T> G null S A 716 716 2.0E-4 missense 0.0 benign 0.99 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,gnomAD rs553980730 7q11.22 7 70790736T> A null S T 716 716 2.0E-4 missense 0.033 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1309460944 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375,cosmic_study:376 7q11.22 7 70790742G> A null D N 718 718 missense 0.996 probably damaging 0.0 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1272659885 7q11.22 7 70790745G> A null G R 719 719 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs768756485 7q11.22 7 70790751C> T null L F 721 721 missense 0.189 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs781201246 7q11.22 7 70790752T> C null L P 721 721 missense 0.98 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1246656867 7q11.22 7 70790754C> T null P S 722 722 missense 0.187 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1485784986 7q11.22 7 70790757C> A null H N 723 723 missense 0.647 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs748618574 7q11.22 7 70790758A> C null H P 723 723 missense 0.862 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1485784986 7q11.22 7 70790757C> T null H Y 723 723 missense 0.099 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1235764227 7q11.22 7 70790760C> T null P S 724 724 missense 0.421 benign 0.23 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,dbSNP,gnomAD rs565725329 7q11.22 7 70790764G> A null S N 725 725 5.99E-4 missense 0.046 benign 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1368161658 7q11.22 7 70790767T> C null L P 726 726 missense 0.999 probably damaging 0.42 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,dbSNP,gnomAD rs202093848 7q11.22 7 70790771C> G null I M 727 727 missense 0.007 benign 0.33 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1162300712 7q11.22 7 70790770T> G null I S 727 727 missense 0.121 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs771904255 7q11.22 7 70790773C> A null T N 728 728 missense 0.382 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1554489359 [ClinVar]: Inborn genetic diseases 7q11.22 7 70790776C> G null P R 729 729 missense 0.998 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000622862 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1289198205 7q11.22 7 70790779G> C null G A 730 730 missense 0.632 possibly damaging 0.4 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs753328166 7q11.22 7 70790778G> C null G R 730 730 missense 0.982 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1289198205 7q11.22 7 70790779G> T null G V 730 730 missense 0.973 probably damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1231708346 7q11.22 7 70790784C> A null P T 732 732 missense 0.187 benign 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs765214493 7q11.22 7 70790789C> G null S R 733 733 missense 0.226 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs750241021 7q11.22 7 70790792G> A null M I 734 734 missense 0.089 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1335554646 7q11.22 7 70790790A> T null M L 734 734 missense 0.006 benign 0.26 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs780293205 7q11.22 7 70790794A> G null H R 735 735 missense 0.578 possibly damaging 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs758166715 7q11.22 7 70790793C> T null H Y 735 735 missense 0.018 benign 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1217012084 7q11.22 7 70790797A> G null Y C 736 736 missense 0.992 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs751803124 7q11.22 7 70790799C> A null P T 737 737 missense 0.591 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1482454954 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790802C> T null R C 738 738 missense 0.985 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1185348364 7q11.22 7 70790803G> T null R L 738 738 missense 0.315 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1185348364 7q11.22 7 70790803G> C null R P 738 738 missense 0.983 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs755137821 7q11.22 7 70790814A> G null T A 742 742 missense 0.337 benign 0.3 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1475279630 7q11.22 7 70790815C> T null T I 742 742 missense 0.827 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1195584864 7q11.22 7 70790817G> C null A P 743 743 missense 0.865 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1186794209 7q11.22 7 70790821G> T null G V 744 744 missense 0.154 benign 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1258222166 7q11.22 7 70790824A> G null N S 745 745 missense 0.0 benign 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs567354186 7q11.22 7 70790831C> A null N K 747 747 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs567354186 7q11.22 7 70790831C> G null N K 747 747 missense 0.997 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes rs202052364 7q11.22 7 70790830A> G null N S 747 747 2.0E-4 missense 0.987 probably damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1159680916 7q11.22 7 70790833G> A null G E 748 748 missense 0.982 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,TOPMed rs140485978 7q11.22 7 70790832G> C null G R 748 748 missense 0.983 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a Ensembl,dbSNP rs1554489424 [ClinVar]: Inborn genetic diseases 7q11.22 7 70790836T> C null L P 749 749 missense 0.914 probably damaging 0.17 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000624846 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs778326381 7q11.22 7 70790835C> G null L V 749 749 missense 0.155 benign 0.11 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1312572641 7q11.22 7 70790842A> G null N S 751 751 missense 0.382 benign 0.25 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs749658188 7q11.22 7 70790845A> G null K R 752 752 missense 0.712 possibly damaging 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1416757959 7q11.22 7 70790848C> A null T N 753 753 missense 0.961 probably damaging 0.12 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1039274139 7q11.22 7 70790851C> T null P L 754 754 missense 0.712 possibly damaging 0.04 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1405917395 7q11.22 7 70790850C> T null P S 754 754 missense 0.994 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,gnomAD rs200355149 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790854C> T null P L 755 755 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs768354002 7q11.22 7 70790859G> A null A T 757 757 missense 0.203 benign 0.03 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1279218604 7q11.22 7 70790863C> G null A G 758 758 missense 0.773 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368565092 7q11.22 7 70790862G> T null A S 758 758 missense 0.12 benign 0.14 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1279218604 7q11.22 7 70790863C> T null A V 758 758 missense 0.805 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs765136217 7q11.22 7 70790868A> G null S G 760 760 missense 0.961 probably damaging 0.15 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1336239612 7q11.22 7 70790881C> T null P L 764 764 missense 0.406 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1336239612 7q11.22 7 70790881C> G null P R 764 764 missense 0.99 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs766175457 7q11.22 7 70790887T> A null I N 766 766 missense 0.935 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1186300311 7q11.22 7 70790889T> A null S T 767 767 missense 0.546 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs755260791 7q11.22 7 70790893C> T null T M 768 768 missense 0.638 possibly damaging 0.09 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1205204962 7q11.22 7 70790902G> C null G A 771 771 missense 0.023 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1205204962 7q11.22 7 70790902G> A null G D 771 771 missense 0.677 possibly damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs752771406 cosmic curated [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: lung pubmed:22980975,pubmed:23525077,pubmed:23619168,cosmic_study:431,cosmic_study:464,cosmic_study:561 7q11.22 7 70790904C> T null R C 772 772 missense 0.997 probably damaging 0.0 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1443011212 7q11.22 7 70790905G> A null R H 772 772 missense 0.996 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1289630665 7q11.22 7 70790910G> T null V F 774 774 missense 0.132 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1342620208 7q11.22 7 70790917C> T null P L 776 776 missense 0.999 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1342620208 7q11.22 7 70790917C> G null P R 776 776 missense 0.999 probably damaging 0.02 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,TOPMed,gnomAD rs201704456 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 7q11.22 7 70790923G> A null R K 778 778 2.0E-4 missense 0.979 probably damaging 0.04 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1012077245 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 7q11.22 7 70790926C> T null T M 779 779 missense 0.998 probably damaging 0.0 deleterious 1 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed,gnomAD rs1436789637 7q11.22 7 70790928A> G null T A 780 780 missense 0.848 possibly damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs768478864 7q11.22 7 70790931C> A null P T 781 781 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs747651759 7q11.22 7 70790940G> T null A S 784 784 missense 0.455 possibly damaging 0.61 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs747651759 7q11.22 7 70790940G> A null A T 784 784 missense 0.03 benign 1.0 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,TOPMed,gnomAD rs769376506 7q11.22 7 70790945G> C null E D 785 785 missense 0.031 benign 0.7 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1475126112 7q11.22 7 70790952G> A null E K 788 788 missense 0.107 benign 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ExAC,gnomAD rs772540060 7q11.22 7 70790961C> G null P A 791 791 missense 0.066 benign 0.07 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a gnomAD rs1396021899 7q11.22 7 70790967C> T null H Y 793 793 missense 0.986 probably damaging 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138087196 7q11.22 7 70790970A> G null T A 794 794 2.0E-4 missense 0.028 benign 0.24 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149469010 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 7q11.22 7 70790971C> T null T M 794 794 missense 0.931 probably damaging 0.01 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a TOPMed rs1231154481 7q11.22 7 70790977A> G null K R 796 796 missense 0.712 possibly damaging 0.17 tolerated 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148604002 7q11.22 7 70790992G> C null R P 801 801 3.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A024RDL5 AUTS2 Autism susceptibility candidate 2, isoform CRA_a 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs148604002 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.22 7 70790992G> A null R Q 801 801 3.99E-4 missense 0.99 probably damaging 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1360144244 19p13.12 19 14072540C> A null A D 2 2 missense 0.0 unknown 0.51 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1308330477 19p13.12 19 14072539G> A null A T 2 2 missense 0.0 unknown 0.22 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1360144244 19p13.12 19 14072540C> T null A V 2 2 missense 0.0 unknown 0.16 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1273610835 19p13.12 19 14072543C> A null P H 3 3 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1217047430 19p13.12 19 14072545C> T null Q * 4 4 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1211784784 19p13.12 19 14072552C> T null A V 6 6 missense 0.691 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1271965995 19p13.12 19 14072555G> A null G E 7 7 missense 0.97 probably damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs915182845 19p13.12 19 14072554G> A null G R 7 7 missense 0.98 probably damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1447136106 19p13.12 19 14072558C> G null P R 8 8 missense 0.908 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1348828673 19p13.12 19 14072561G> A null G D 9 9 missense 0.97 probably damaging 0.11 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1239945515 19p13.12 19 14072576C> T null S F 14 14 missense 0.692 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1322507560 19p13.12 19 14072579C> T null S F 15 15 missense 0.692 possibly damaging 0.16 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs540214875 19p13.12 19 14072581A> G null K E 16 16 missense 0.497 possibly damaging 0.08 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1476458583 19p13.12 19 14072590C> T null R C 19 19 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1476458583 19p13.12 19 14072590C> G null R G 19 19 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1163471509 19p13.12 19 14072593G> A null A T 20 20 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1405934213 19p13.12 19 14072953G> A null G R 24 24 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1234405170 19p13.12 19 14072954G> T null G V 24 24 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs778918837 19p13.12 19 14072960G> A null G E 26 26 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1412634475 19p13.12 19 14072965C> T null P S 28 28 missense 0.81 possibly damaging 0.23 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1336236771 19p13.12 19 14072968A> G null R G 29 29 missense 0.3 benign 0.64 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,TOPMed,gnomAD rs549667559 19p13.12 19 14072977C> G null Q E 32 32 2.0E-4 missense 0.095 benign 0.07 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1234561985 19p13.12 19 14072985C> A null S R 34 34 missense 0.514 possibly damaging 0.05 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs935284075 19p13.12 19 14072986C> T null P S 35 35 missense 0.81 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1302598585 19p13.12 19 14072990G> A null R K 36 36 missense 0.146 benign 0.73 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1052352748 19p13.12 19 14072999C> T null A V 39 39 missense 0.691 possibly damaging 0.07 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1255943352 19p13.12 19 14073016G> T null V F 45 45 missense 0.617 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1377488498 19p13.12 19 14073019C> T null P S 46 46 missense 0.81 possibly damaging 0.08 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1438871359 19p13.12 19 14073023A> G null K R 47 47 missense 0.497 possibly damaging 0.83 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1438871359 19p13.12 19 14073023A> C null K T 47 47 missense 0.617 possibly damaging 0.08 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1184666191 19p13.12 19 14073034A> G null K E 51 51 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs893692580 19p13.12 19 14073040G> T null V L 53 53 missense 0.205 benign 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1439237510 19p13.12 19 14073043G> A null E K 54 54 missense 0.497 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1174347222 19p13.12 19 14073052G> A null E K 57 57 missense 0.497 possibly damaging 0.2 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1383852895 19p13.12 19 14073057A> C null Q H 58 58 missense 0.398 benign 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1397064637 19p13.12 19 14073056A> G null Q R 58 58 missense 0.151 benign 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1433127120 19p13.12 19 14073058G> T null E * 59 59 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1171747562 19p13.12 19 14073059A> G null E G 59 59 missense 0.617 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1430206255 19p13.12 19 14073067G> A null V I 62 62 missense 0.205 benign 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1393047760 19p13.12 19 14073073G> A null E K 64 64 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1047211995 19p13.12 19 14073083T> C null V A 67 67 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1010930771 19p13.12 19 14073082G> A null V I 67 67 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs571247061 19p13.12 19 14073086A> G null E G 68 68 5.99E-4 missense 0.617 possibly damaging 0.48 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1282031032 19p13.12 19 14073099G> C null E D 72 72 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1368289977 19p13.12 19 14073101G> T null S I 73 73 missense 0.617 possibly damaging 0.05 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1368289977 19p13.12 19 14073101G> A null S N 73 73 missense 0.393 benign 0.19 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1255748835 19p13.12 19 14073103C> T null P S 74 74 missense 0.81 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1198073096 19p13.12 19 14073106G> A null G R 75 75 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1457728039 19p13.12 19 14073118G> A null A T 79 79 missense 0.691 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1327522614 19p13.12 19 14073131A> G null E G 83 83 missense 0.617 possibly damaging 0.23 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1312532611 19p13.12 19 14073136C> T null P S 85 85 missense 0.81 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs781480820 19p13.12 19 14073139G> C null E Q 86 86 missense 0.617 possibly damaging 0.26 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1377582059 19p13.12 19 14073142C> A null P T 87 87 missense 0.81 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs995836664 19p13.12 19 14073145G> T null G C 88 88 missense 0.985 probably damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1452785308 19p13.12 19 14073151G> A null D N 90 90 missense 0.737 possibly damaging 0.04 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1373427008 19p13.12 19 14073169G> A null E K 96 96 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1169721129 19p13.12 19 14073173C> A null A E 97 97 missense 0.773 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs547015415 19p13.12 19 14073196C> T null Q * 105 105 7.99E-4 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs116653656 19p13.12 19 14073199C> T null H Y 106 106 0.01498 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1004756764 19p13.12 19 14073206C> T null P L 108 108 missense 0.856 possibly damaging 0.26 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs749573950 19p13.12 19 14073215C> A null P H 111 111 missense 0.952 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs749573950 19p13.12 19 14073215C> T null P L 111 111 missense 0.856 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs749573950 19p13.12 19 14073215C> G null P R 111 111 missense 0.908 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1219405610 19p13.12 19 14073217A> G null K E 112 112 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1197020487 19p13.12 19 14073224C> G null S C 114 114 missense 0.848 possibly damaging 0.17 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes rs536359855 19p13.12 19 14073223T> C null S P 114 114 2.0E-4 missense 0.514 possibly damaging 0.22 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1276732536 19p13.12 19 14073233G> T null R M 117 117 missense 0.711 possibly damaging 0.04 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs560239360 19p13.12 19 14073234G> C null R S 117 117 0.001198 missense 0.412 benign 0.54 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs560239360 19p13.12 19 14073234G> T null R S 117 117 0.001198 missense 0.412 benign 0.54 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs762361002 19p13.12 19 14073235T> C null S P 118 118 missense 0.514 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs770423062 19p13.12 19 14073238G> C null G R 119 119 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs529384554 19p13.12 19 14073242C> T null S L 120 120 0.003594 missense 0.514 possibly damaging 0.26 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs529384554 19p13.12 19 14073242C> G null S W 120 120 0.003594 missense 0.883 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1023241325 19p13.12 19 14073244G> C null E Q 121 121 missense 0.617 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1262620690 19p13.12 19 14073248C> A null A D 122 122 missense 0.826 possibly damaging 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1262620690 19p13.12 19 14073248C> T null A V 122 122 missense 0.691 possibly damaging 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1430542125 19p13.12 19 14073251C> T null P L 123 123 missense 0.856 possibly damaging 0.58 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1348844462 19p13.12 19 14073250C> T null P S 123 123 missense 0.81 possibly damaging 0.16 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1392044649 19p13.12 19 14073254A> T null H L 124 124 missense 0.412 benign 1.0 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs969131978 19p13.12 19 14073253C> A null H N 124 124 missense 0.223 benign 0.14 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1190712061 19p13.12 19 14073256C> G null L V 125 125 missense 0.578 possibly damaging 0.13 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1475482338 19p13.12 19 14073268C> T null P S 129 129 missense 0.81 possibly damaging 0.83 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1167093199 19p13.12 19 14073273C> A null C * 130 130 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1456911449 19p13.12 19 14073277G> A null E K 132 132 missense 0.497 possibly damaging 0.1 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1162615656 19p13.12 19 14073283C> T null P S 134 134 missense 0.81 possibly damaging 0.09 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs981882078 19p13.12 19 14073293C> T null P L 137 137 missense 0.856 possibly damaging 0.13 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs981882078 19p13.12 19 14073293C> G null P R 137 137 missense 0.908 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1214918326 19p13.12 19 14073298G> A null E K 139 139 missense 0.497 possibly damaging 0.03 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1340357201 19p13.12 19 14073304C> T null R W 141 141 missense 0.007 benign 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1295579044 19p13.12 19 14073323T> A null I N 147 147 missense 0.996 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1437934301 19p13.12 19 14073336C> G null I M 151 151 missense 0.98 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1320454469 19p13.12 19 14073338G> A null R H 152 152 missense 0.981 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC rs762626515 19p13.12 19 14073340C> T null R C 153 153 missense 0.928 probably damaging 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs912819200 19p13.12 19 14073348C> A null C * 155 155 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs912819200 19p13.12 19 14073348C> G null C W 155 155 missense 0.97 probably damaging 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs558846444 19p13.12 19 14073357G> T null E D 158 158 3.99E-4 missense 0.992 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1261421892 19p13.12 19 14073355G> A null E K 158 158 missense 0.994 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs751530064 19p13.12 19 14073360G> C null E D 159 159 missense 0.083 benign 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1039750571 19p13.12 19 14073362G> A null S N 160 160 missense 0.327 benign 0.32 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs899833833 19p13.12 19 14073377G> A null R Q 165 165 missense 0.121 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1321634302 19p13.12 19 14073376C> T null R W 165 165 missense 0.972 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1438702968 19p13.12 19 14073385A> G null S G 168 168 missense 0.719 possibly damaging 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC rs757334792 19p13.12 19 14073386G> A null S N 168 168 missense 0.855 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1159152107 19p13.12 19 14073389C> T null P L 169 169 missense 0.183 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1451155091 19p13.12 19 14073392G> A null G D 170 170 missense 0.6 possibly damaging 0.2 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs934105122 19p13.12 19 14073397G> C null A P 172 172 missense 0.905 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1157741973 19p13.12 19 14073403C> T null R C 174 174 missense 0.339 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1375682598 19p13.12 19 14073413T> C null V A 177 177 missense 0.156 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs8104055 19p13.12 19 14073415G> C null E Q 178 178 0.0631 missense 0.021 benign 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs931743754 19p13.12 19 14073421C> A null R S 180 180 missense 0.555 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs756242699 19p13.12 19 14073424G> C null V L 181 181 missense 0.007 benign 0.12 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1043399460 19p13.12 19 14073431C> T null P L 183 183 missense 0.564 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1043399460 19p13.12 19 14073431C> G null P R 183 183 missense 0.706 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs903493573 19p13.12 19 14073434T> C null V A 184 184 missense 0.156 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs999210415 19p13.12 19 14073436C> T null L F 185 185 missense 0.976 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1052747128 19p13.12 19 14073440A> G null N S 186 186 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs896435341 19p13.12 19 14073446C> T null P L 188 188 missense 0.856 possibly damaging 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs896435341 19p13.12 19 14073446C> G null P R 188 188 missense 0.912 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs777109852 19p13.12 19 14073448G> C null G R 189 189 missense 0.062 benign 0.07 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1236599250 19p13.12 19 14073458C> T null P L 192 192 missense 0.172 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1023489515 19p13.12 19 14073470G> A null R H 196 196 missense 0.987 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1416724403 19p13.12 19 14073469C> A null R S 196 196 missense 0.949 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs969429163 19p13.12 19 14073479A> G null E G 199 199 missense 0.943 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs995519894 19p13.12 19 14073482G> T null R L 200 200 missense 0.949 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs995519894 19p13.12 19 14073482G> C null R P 200 200 missense 0.979 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1401071081 19p13.12 19 14073484G> A null A T 201 201 missense 0.996 probably damaging 0.06 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs28477837 19p13.12 19 14073501G> T null Q H 206 206 missense 0.873 possibly damaging 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1395115679 19p13.12 19 14073509G> A null R Q 209 209 missense 0.975 probably damaging 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1568514913 19p13.12 19 14073514A> T null I F 211 211 missense 0.855 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1188543025 19p13.12 19 14073521G> T null R L 213 213 missense 0.995 probably damaging 0.08 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1395258007 19p13.12 19 14073529C> A null H N 216 216 missense 0.0 benign 0.14 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1027043919 19p13.12 19 14073533G> A null R Q 217 217 missense 0.994 probably damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1216934658 19p13.12 19 14073539C> A null A E 219 219 missense 0.058 benign 1.0 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs964159897 19p13.12 19 14073560T> C null V A 226 226 missense 0.0 benign 0.42 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes rs554232124 19p13.12 19 14073567G> C null E D 228 228 5.99E-4 missense 0.083 benign 0.42 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1177175894 19p13.12 19 14073569C> T null P L 229 229 missense 0.001 benign 0.74 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs879391818 19p13.12 19 14073575C> A null A D 231 231 missense 0.001 benign 1.0 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs879391818 19p13.12 19 14073575C> T null A V 231 231 missense 0.003 benign 0.21 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,TOPMed,gnomAD rs572316093 19p13.12 19 14073577C> G null R G 232 232 0.003794 missense 0.0 benign 0.15 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,TOPMed,gnomAD rs572316093 19p13.12 19 14073577C> T null R W 232 232 0.003794 missense 0.312 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1357838001 19p13.12 19 14073581C> A null S * 233 233 stop gained 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1339613863 19p13.12 19 14073580T> G null S A 233 233 missense 0.011 benign 0.16 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs947551139 19p13.12 19 14073584C> T null P L 234 234 missense 0.01 benign 0.06 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1436176016 19p13.12 19 14073587C> A null P Q 235 235 missense 0.782 possibly damaging 0.15 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1375568264 19p13.12 19 14073593C> A null P Q 237 237 missense 0.999 probably damaging 0.24 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1043473513 19p13.12 19 14073596T> A null L Q 238 238 missense 0.982 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1472692778 19p13.12 19 14073604C> T null L F 241 241 missense 0.952 probably damaging 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs934981979 19p13.12 19 14073610C> T null R C 243 243 missense 0.832 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1376177575 19p13.12 19 14073611G> A null R H 243 243 missense 0.832 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1444587105 19p13.12 19 14073629C> T null A V 249 249 missense 0.217 benign 0.11 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1215042251 19p13.12 19 14073638G> T null G V 252 252 missense 0.367 benign 0.12 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs974672026 19p13.12 19 14073653C> G null A G 257 257 missense 0.006 benign 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs974672026 19p13.12 19 14073653C> T null A V 257 257 missense 0.084 benign 0.1 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1027145356 19p13.12 19 14073659A> G null D G 259 259 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1371951844 19p13.12 19 14073685G> T null E * 268 268 missense 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs12982998 19p13.12 19 14073689C> A null P H 269 269 missense 0.0 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs905009808 19p13.12 19 14073698G> C null R P 272 272 missense 0.0 benign 0.1 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1236827527 19p13.12 19 14073701C> T null P L 273 273 missense 0.0 benign 0.06 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1236827527 19p13.12 19 14073701C> G null P R 273 273 missense 0.0 benign 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1270409133 19p13.12 19 14073707C> T null S L 275 275 missense 0.003 benign 0.3 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1416195313 19p13.12 19 14073709G> A null A T 276 276 missense 0.06 benign 0.16 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs995301078 19p13.12 19 14073719G> A null G D 279 279 missense 0.003 benign 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1026994865 19p13.12 19 14073721G> A null G R 280 280 missense 0.0 benign 0.72 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs56051282 19p13.12 19 14073728G> T null R L 282 282 missense 0.0 benign 0.05 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs56051282 19p13.12 19 14073728G> A null R Q 282 282 missense 0.0 benign 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1456403725 19p13.12 19 14073727C> T null R W 282 282 missense 0.0 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1455290146 19p13.12 19 14073731T> C null V A 283 283 missense 0.023 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1484331314 19p13.12 19 14073730G> A null V M 283 283 missense 0.821 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1197880146 19p13.12 19 14073736G> C null G R 285 285 missense 0.093 benign 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs772509019 19p13.12 19 14073740G> T null S I 286 286 missense 0.0 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs772509019 19p13.12 19 14073740G> A null S N 286 286 missense 0.0 benign 0.09 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1432900179 19p13.12 19 14073741C> G null S R 286 286 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1234915712 19p13.12 19 14073745C> T null P S 288 288 missense 0.395 benign 0.09 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1171583513 19p13.12 19 14073749C> A null P Q 289 289 missense 0.006 benign 0.06 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1171583513 19p13.12 19 14073749C> G null P R 289 289 missense 0.006 benign 0.02 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs760190957 19p13.12 19 14073752C> T null P L 290 290 missense 0.001 benign 0.07 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs921533572 19p13.12 19 14073761C> T null P L 293 293 missense 0.013 benign 0.24 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs921533572 19p13.12 19 14073761C> A null P Q 293 293 missense 0.09 benign 0.42 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs921533572 19p13.12 19 14073761C> G null P R 293 293 missense 0.619 possibly damaging 0.39 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs143802484 19p13.12 19 14073760C> T null P S 293 293 3.99E-4 missense 0.367 benign 0.1 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs143802484 19p13.12 19 14073760C> A null P T 293 293 3.99E-4 missense 0.451 possibly damaging 0.06 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1273230248 19p13.12 19 14073772G> A null E K 297 297 missense 0.021 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1273230248 19p13.12 19 14073772G> C null E Q 297 297 missense 0.031 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1367186156 19p13.12 19 14073776A> C null Q P 298 298 missense 0.367 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1297494711 19p13.12 19 14073791T> C null V A 303 303 missense 0.003 benign 0.34 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1297494711 19p13.12 19 14073791T> G null V G 303 303 missense 0.158 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1315951935 19p13.12 19 14073794G> C null R P 304 304 missense 0.422 benign 0.03 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs769388704 19p13.12 19 14073796G> T null E * 305 305 missense 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs769388704 19p13.12 19 14073796G> A null E K 305 305 missense 0.196 benign 0.05 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs142911990 19p13.12 19 14073799C> A null R S 306 306 0.002396 missense 0.882 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1218749595 19p13.12 19 14073804G> T null E D 307 307 missense 0.325 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1403092680 19p13.12 19 14073802G> C null E Q 307 307 missense 0.601 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1468767496 19p13.12 19 14073808G> A null E K 309 309 missense 0.027 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1307194526 19p13.12 19 14073816G> C null Q H 311 311 missense 0.865 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1213263531 19p13.12 19 14073815A> C null Q P 311 311 missense 0.682 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1213263531 19p13.12 19 14073815A> G null Q R 311 311 missense 0.482 possibly damaging 0.08 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs762726115 19p13.12 19 14073818G> A null R H 312 312 missense 0.738 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1568515078 19p13.12 19 14073817C> A null R S 312 312 missense 0.416 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs763792410 19p13.12 19 14073820C> A null Q K 313 313 missense 0.277 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1426289043 19p13.12 19 14073821A> C null Q P 313 313 missense 0.566 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1426289043 19p13.12 19 14073821A> G null Q R 313 313 missense 0.277 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1170677386 19p13.12 19 14073824G> A null R Q 314 314 missense 0.018 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1477118812 19p13.12 19 14073823C> T null R W 314 314 missense 0.796 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs988197162 19p13.12 19 14073827G> T null R L 315 315 missense 0.003 benign 0.91 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1463024022 19p13.12 19 14073830G> T null S I 316 316 missense 0.919 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1463024022 19p13.12 19 14073830G> A null S N 316 316 missense 0.844 possibly damaging 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1349475445 19p13.12 19 14073832G> T null V F 317 317 missense 0.214 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1349475445 19p13.12 19 14073832G> C null V L 317 317 missense 0.003 benign 0.44 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs532293955 19p13.12 19 14073839G> A null G D 319 319 2.0E-4 missense 0.817 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1290388774 19p13.12 19 14073845C> T null A V 321 321 missense 0.049 benign 0.14 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs949090098 19p13.12 19 14073849G> C null E D 322 322 missense 0.003 benign 0.27 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs762478898 19p13.12 19 14073854A> G null K R 324 324 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs905127799 19p13.12 19 14073858G> T null E D 325 325 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs12983322 19p13.12 19 14073860C> T null P L 326 326 missense 0.615 possibly damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs12983322 19p13.12 19 14073860C> G null P R 326 326 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1336876257 19p13.12 19 14073863C> A null T K 327 327 missense 0.049 benign 0.05 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1336876257 19p13.12 19 14073863C> T null T M 327 327 missense 0.381 benign 0.04 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1048257896 19p13.12 19 14073869G> T null S I 329 329 missense 0.01 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1288570953 19p13.12 19 14073870C> A null S R 329 329 missense 0.551 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1023297015 19p13.12 19 14073871C> T null L F 330 330 missense 0.992 probably damaging 0.05 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1186891041 19p13.12 19 14074390C> A null A E 332 332 missense 0.003 benign 0.24 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1487472088 19p13.12 19 14073877G> C null A P 332 332 missense 0.006 benign 0.08 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1281476346 19p13.12 19 14074393G> T null S I 333 333 missense 0.012 benign 0.02 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs908518646 19p13.12 19 14074398G> A null G S 335 335 missense 0.824 possibly damaging 0.17 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1199101015 19p13.12 19 14074399G> T null G V 335 335 missense 0.907 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs779120575 19p13.12 19 14074401G> A null D N 336 336 missense 0.013 benign 0.07 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1438922841 19p13.12 19 14074405G> A null G E 337 337 missense 0.999 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1200566468 19p13.12 19 14074412G> C null L F 339 339 missense 0.998 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs7258963 19p13.12 19 14074414T> C null V A 340 340 0.496 missense 0.0 benign 1.0 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1024720136 19p13.12 19 14074422T> C null W R 343 343 missense 0.997 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes rs571843273 19p13.12 19 14074423G> C null W S 343 343 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs772454436 19p13.12 19 14074426C> T null P L 344 344 missense 0.964 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1439297769 19p13.12 19 14074425C> T null P S 344 344 missense 0.539 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed,gnomAD rs1476884246 19p13.12 19 14074429C> A null P H 345 345 missense 0.982 probably damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs554467018 19p13.12 19 14074432G> A null R H 346 346 2.0E-4 missense 0.049 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1397071286 19p13.12 19 14074431C> A null R S 346 346 missense 0.766 possibly damaging 0.19 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1328660372 19p13.12 19 14074435G> A null R K 347 347 missense 0.031 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 gnomAD rs1328660372 19p13.12 19 14074435G> C null R T 347 347 missense 0.744 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1003518665 19p13.12 19 14074439G> T null K N 348 348 missense 0.548 possibly damaging 0.17 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,gnomAD rs747601725 19p13.12 19 14074438A> G null K R 348 348 missense 0.018 benign 0.07 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs572407856 19p13.12 19 14074440G> T null V F 349 349 2.0E-4 missense 0.136 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs572407856 19p13.12 19 14074440G> C null V L 349 349 2.0E-4 missense 0.011 benign 0.06 tolerated 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 Ensembl rs1056173763 19p13.12 19 14074459A> G null E G 355 355 missense 0.767 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs952395022 19p13.12 19 14074458G> A null E K 355 355 missense 0.702 possibly damaging 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1312779781 19p13.12 19 14074463G> C null Q H 356 356 missense 0.821 possibly damaging 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs370521113 19p13.12 19 14074712C> T null R C 359 359 0.001198 missense 0.003 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 1000Genomes,ExAC,TOPMed,gnomAD rs370521113 19p13.12 19 14074712C> A null R S 359 359 0.001198 missense 0.144 benign 0.0 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 ExAC,TOPMed,gnomAD rs760728666 19p13.12 19 14074717A> C null K N 360 360 missense 0.21 benign 0.01 deleterious 0 A0A044PY82 MISP3 Uncharacterized protein MISP3 TOPMed rs1295638556 19p13.12 19 14074721T> G null * G 362 362 stop lost 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs868182848 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139932035C> T null R H 3 3 missense 0.251 benign 0.01 deleterious - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1181748022 Xq27.1 X 139932033G> A null R W 4 4 missense 0.307 benign 0.08 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778961255 Xq27.1 X 139932030T> C null S G 5 5 missense 0.012 benign 0.49 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs756102804 Xq27.1 X 139932029C> G null S T 5 5 missense 0.0 benign 0.69 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1201369752 Xq27.1 X 139932020C> T null R H 8 8 missense 0.139 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs985796448 Xq27.1 X 139932021G> T null R S 8 8 missense 0.015 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1232126837 Xq27.1 X 139826817C> T null G R 12 12 missense 0.015 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747995530 Xq27.1 X 139826804C> T null R Q 16 16 missense 0.096 benign 0.34 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1443011660 Xq27.1 X 139826802C> A null V F 17 17 missense 0.238 benign 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs754737319 Xq27.1 X 139826798C> T null G D 18 18 missense 0.998 probably damaging 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778844383 Xq27.1 X 139826799C> T null G S 18 18 missense 0.997 probably damaging 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1350894484 Xq27.1 X 139826795G> C null T R 19 19 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1390887404 Xq27.1 X 139826793G> A null R C 20 20 missense 0.995 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs988962095 Xq27.1 X 139826790T> C null T A 21 21 missense 0.979 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs956360939 Xq27.1 X 139826780A> G null V A 24 24 missense 0.049 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs577732149 Xq27.1 X 139826774T> C null N S 26 26 missense 0.003 benign 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs371311929 Xq27.1 X 139826772G> A null H Y 27 27 missense 0.121 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs768884689 Xq27.1 X 139826766C> T null V I 29 29 0.00106 missense 0.0 benign 0.39 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs768123444 Xq27.1 X 139826762G> A null S L 30 30 missense 0.106 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs780434359 Xq27.1 X 139826756G> A null T I 32 32 2.65E-4 missense 0.067 benign 0.18 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1215787567 Xq27.1 X 139826745T> C null I V 36 36 missense 0.0 benign 0.41 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs763234673 Xq27.1 X 139826735C> T null R K 39 39 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1175330508 Xq27.1 X 139826726T> C null D G 42 42 missense 0.0 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1271571781 Xq27.1 X 139826717A> G null I T 45 45 missense 0.964 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1473658479 Xq27.1 X 139826715C> T null V I 46 46 missense 0.007 benign 0.34 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs749993412 Xq27.1 X 139819423G> T null T K 51 51 missense 0.99 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1211547584 Xq27.1 X 139819415T> C null N D 54 54 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,gnomAD rs201273611 Xq27.1 X 139819413A> T null N K 54 54 missense 0.986 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs780679084 Xq27.1 X 139819392A> T null F L 61 61 missense 0.961 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1485593813 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139819391C> G null E Q 62 62 missense 0.986 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757821422 Xq27.1 X 139819369T> C null N S 69 69 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1224475078 Xq27.1 X 139819355T> A null I L 74 74 missense 0.811 possibly damaging 0.15 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP rs1064796558 Xq27.1 X 139819340G> A null Q * 79 79 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1220816522 Xq27.1 X 139816933T> C null D G 83 83 missense 0.991 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs749160335 Xq27.1 X 139816916C> G null V L 89 89 missense 0.017 benign 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs779686911 Xq27.1 X 139816913T> G null T P 90 90 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs374239442 Xq27.1 X 139816904G> A null L F 93 93 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs780753046 Xq27.1 X 139816886T> C null I V 99 99 missense 0.811 possibly damaging 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1345526332 Xq27.1 X 139816882G> T null T N 100 100 missense 0.99 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1302490912 Xq27.1 X 139816880C> T null V I 101 101 missense 0.949 probably damaging 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2491014 Xq27.1 X 139814971A> T null C * 111 111 0.007947 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2491014 pubmed:15533723 Xq27.1 X 139814971A> C null C W 111 111 0.007947 missense 0.0 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs79770109 Xq27.1 X 139814966C> A null R I 113 113 missense 0.988 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs775416752 Xq27.1 X 139814950A> C null N K 118 118 missense 0.003 benign 0.51 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs762800219 Xq27.1 X 139814951T> C null N S 118 118 missense 0.066 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1337436321 Xq27.1 X 139814947T> A null E D 119 119 missense 0.979 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1201681938 Xq27.1 X 139814937T> C null S G 123 123 missense 0.09 benign 0.5 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs141053445 Xq27.1 X 139814934T> C null T A 124 124 missense 0.0 benign 0.21 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs918691679 Xq27.1 X 139814925T> C null I V 127 127 missense 0.811 possibly damaging 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1481034691 Xq27.1 X 139814917T> G null E D 129 129 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1393975712 Xq27.1 X 139814915T> C null N S 130 130 missense 0.979 probably damaging 0.71 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs868329011 Xq27.1 X 139814910T> C null K E 132 132 missense 0.0 benign 0.8 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs965839431 Xq27.1 X 139814907G> A null R * 133 133 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs770545434 Xq27.1 X 139814890A> C null S R 138 138 missense 0.988 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs761897152 Xq27.1 X 139804599C> T null V I 143 143 missense 0.949 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs12835062 Xq27.1 X 139804584C> A null E * 148 148 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs12835062 Xq27.1 X 139804584C> G null E Q 148 148 missense 0.986 probably damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1385689560 Xq27.1 X 139804581C> T null V I 149 149 missense 0.949 probably damaging 0.15 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,NCI-TCGA,gnomAD rs759371950 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139804569C> T null E K 153 153 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1387521664 Xq27.1 X 139804559G> C null P R 156 156 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1452216664 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 Xq27.1 X 139804560G> A null P S 156 156 missense 0.994 probably damaging 0.0 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs770635734 Xq27.1 X 139804538G> T null S * 163 163 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1025067463 Xq27.1 X 139804535G> C null S C 164 164 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs780307263 Xq27.1 X 139804523T> A null D V 168 168 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1336173919 Xq27.1 X 139804506T> C null T A 174 174 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747656739 Xq27.1 X 139804505G> T null T N 174 174 missense 0.99 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs779312013 Xq27.1 X 139804483T> G null E D 181 181 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs766175328 Xq27.1 X 139802338G> A null T I 186 186 missense 0.001 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs766175328 Xq27.1 X 139802338G> C null T R 186 186 missense 0.324 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs199612746 Xq27.1 X 139802336G> T null H N 187 187 missense 0.16 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs771707520 Xq27.1 X 139802331A> T null Y * 188 188 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs140504622 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139802324G> A null R C 191 191 2.65E-4 missense 0.681 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs897543909 Xq27.1 X 139802323C> T null R H 191 191 missense 0.003 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs897543909 Xq27.1 X 139802323C> A null R L 191 191 missense 0.223 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs897543909 Xq27.1 X 139802323C> G null R P 191 191 missense 0.555 possibly damaging 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs773881674 Xq27.1 X 139802315T> C null I V 194 194 missense 0.001 benign 0.34 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs944397473 Xq27.1 X 139802312C> G null A P 195 195 missense 0.162 benign 0.21 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569462672 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139802311G> A null A V 195 195 missense 0.045 benign 0.57 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs367974943 Xq27.1 X 139802309G> T null L M 196 196 missense 0.996 probably damaging 0.05 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1166890827 Xq27.1 X 139802308A> G null L P 196 196 missense 0.997 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs769113317 Xq27.1 X 139802300C> T null A T 199 199 missense 0.006 benign 0.46 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs779359689 Xq27.1 X 139802291T> C null I V 202 202 5.3E-4 missense 0.856 possibly damaging 0.32 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1480053055 Xq27.1 X 139802288C> G null D H 203 203 missense 0.759 possibly damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs770291563 Xq27.1 X 139802284G> T null T N 204 204 missense 0.0 benign 0.23 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs746182778 Xq27.1 X 139802279G> C null R G 206 206 missense 0.158 benign 0.36 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs188113308 Xq27.1 X 139802278C> T null R Q 206 206 2.65E-4 missense 0.003 benign 0.66 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757468405 Xq27.1 X 139802270T> C null I V 209 209 missense 0.856 possibly damaging 0.28 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs751654828 Xq27.1 X 139802261C> G null E Q 212 212 missense 0.99 probably damaging 0.86 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs758111978 Xq27.1 X 139802258G> A null Q * 213 213 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs777893450 Xq27.1 X 139802242A> C null L R 218 218 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753780083 Xq27.1 X 139802237T> A null K * 220 220 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs766263480 Xq27.1 X 139802236T> C null K R 220 220 missense 0.001 benign 0.57 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1177040233 Xq27.1 X 139800106C> A null V F 222 222 missense 0.257 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1278047178 Xq27.1 X 139800099C> T null R Q 224 224 missense 0.975 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374927991 Xq27.1 X 139800093T> C null N S 226 226 2.65E-4 missense 0.0 benign 0.19 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1263887991 Xq27.1 X 139800073C> G null E Q 233 233 missense 0.0 benign 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs899218699 Xq27.1 X 139800067C> G null V L 235 235 missense 0.018 benign 0.25 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs755949628 Xq27.1 X 139798739A> C null L V 239 239 missense 0.984 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1359811246 Xq27.1 X 139798735C> T null G E 240 240 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs758206166 Xq27.1 X 139798736C> T null G R 240 240 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,NCI-TCGA,TOPMed,gnomAD rs754539347 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139798705G> A null T M 250 250 missense 0.748 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1385578853 Xq27.1 X 139798697T> C null N D 253 253 missense 0.984 probably damaging 0.2 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1385578853 Xq27.1 X 139798697T> G null N H 253 253 missense 0.997 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1183274142 Xq27.1 X 139798696T> C null N S 253 253 missense 0.984 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753264253 Xq27.1 X 139798693G> A null T I 254 254 missense 0.996 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1448745003 Xq27.1 X 139798691C> T null E K 255 255 missense 0.0 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs761082044 Xq27.1 X 139798682A> G null Y H 258 258 missense 0.996 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs772022885 Xq27.1 X 139798346C> T null V I 262 262 missense 0.963 probably damaging 0.42 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs772022885 Xq27.1 X 139798346C> G null V L 262 262 missense 0.963 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747901190 Xq27.1 X 139798319C> T null A T 271 271 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1333809835 Xq27.1 X 139798310A> T null Y N 274 274 missense 0.996 probably damaging 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778675982 Xq27.1 X 139798306T> C null Q R 275 275 missense 0.961 probably damaging 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs754984413 Xq27.1 X 139798299T> A null K N 277 277 missense 0.993 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1197757592 Xq27.1 X 139798289G> A null R C 281 281 missense 0.0 benign 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753454802 Xq27.1 X 139798280C> T null V I 284 284 missense 0.963 probably damaging 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs958565980 Xq27.1 X 139797322T> C null I V 288 288 missense 0.856 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed rs763069170 Xq27.1 X 139797290G> C null I M 298 298 missense 0.988 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759646673 Xq27.1 X 139797273G> A null A V 304 304 missense 0.006 benign 0.82 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1178653328 Xq27.1 X 139797267C> A null C F 306 306 missense 0.994 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs772112736 Xq27.1 X 139797262T> C null T A 308 308 missense 0.001 benign 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1353707269 Xq27.1 X 139797250C> T null V I 312 312 missense 0.001 benign 0.38 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1227337388 Xq27.1 X 139797243T> C null Q R 314 314 missense 0.961 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs774013567 Xq27.1 X 139797240C> T null S N 315 315 missense 0.003 benign 0.15 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs768413801 Xq27.1 X 139797238T> C null T A 316 316 missense 0.006 benign 0.52 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569459943 Xq27.1 X 139797237G> T null T N 316 316 missense 0.0 benign 0.44 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs368191959 Xq27.1 X 139797231T> C null Y C 318 318 missense 0.736 possibly damaging 0.2 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs779692550 Xq27.1 X 139797226C> A null D Y 320 320 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1323535656 Xq27.1 X 139797215C> G null W C 323 323 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1190038325 Xq27.1 X 139797207T> C null Q R 326 326 missense 0.003 benign 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1239229087 Xq27.1 X 139797201G> A null T I 328 328 missense 0.996 probably damaging 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1255350200 Xq27.1 X 139797194T> G null K N 330 330 missense 0.993 probably damaging 0.3 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1471866887 Xq27.1 X 139797191C> G null E D 331 331 missense 0.984 probably damaging 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs957402892 Xq27.1 X 139797190G> A null R * 332 332 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,NCI-TCGA,TOPMed,gnomAD rs139162586 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139797189C> T null R Q 332 332 missense 0.216 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1318540161 Xq27.1 X 139797183G> T null T N 334 334 missense 0.131 benign 0.34 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs765266896 Xq27.1 X 139797180A> C null L W 335 335 2.65E-4 missense 0.0 benign 0.18 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1486796737 Xq27.1 X 139796467A> C null L V 338 338 missense 0.979 probably damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs761828644 Xq27.1 X 139796454G> C null T S 342 342 missense 0.984 probably damaging 0.36 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,NCI-TCGA,gnomAD rs768342557 NCI-TCGA Cosmic [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375,cosmic_study:419 Xq27.1 X 139796452C> T null D N 343 343 missense 0.994 probably damaging 0.0 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC rs147377814 Xq27.1 X 139796440A> G null F L 347 347 missense 0.971 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs775030725 Xq27.1 X 139796426G> T null F L 351 351 missense 0.971 probably damaging 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs769417087 Xq27.1 X 139796419T> C null I V 354 354 missense 0.856 possibly damaging 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1236256718 Xq27.1 X 139796412G> C null P R 356 356 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1178015701 Xq27.1 X 139796402C> A null M I 359 359 missense 0.758 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1339979206 Xq27.1 X 139796404T> A null M L 359 359 missense 0.65 possibly damaging 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1436026009 Xq27.1 X 139796395T> A null T S 362 362 missense 0.984 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs200542850 Xq27.1 X 139796379T> C null K R 367 367 2.65E-4 missense 0.984 probably damaging 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs200542850 Xq27.1 X 139796379T> G null K T 367 367 2.65E-4 missense 0.99 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747472093 Xq27.1 X 139796363G> C null F L 372 372 missense 0.214 benign 0.2 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778300185 Xq27.1 X 139796359T> C null I V 374 374 missense 0.07 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1017900566 Xq27.1 X 139796347T> C null K E 378 378 missense 0.142 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs758709585 Xq27.1 X 139796338A> G null Y H 381 381 missense 0.419 benign 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1367437587 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139796332C> T null E K 383 383 missense 0.984 probably damaging 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs920415310 Xq27.1 X 139796327T> G null E D 384 384 missense 0.984 probably damaging 0.19 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1184765821 Xq27.1 X 139796322T> C null N S 386 386 missense 0.045 benign 0.09 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753082643 Xq27.1 X 139796320C> T null E K 387 387 missense 0.984 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1464978015 Xq27.1 X 139796314C> A null A S 389 389 missense 0.99 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1464978015 Xq27.1 X 139796314C> T null A T 389 389 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs755247114 Xq27.1 X 139796301G> A null T I 393 393 missense 0.996 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1270852495 Xq27.1 X 139789485C> A null D Y 404 404 missense 0.955 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP rs1556323334 NCI-TCGA Cosmic [UniProt]: decreased phosphatidylserine translocation from the outer to the inner leaflet of erythrocytes cell membrane, [ClinVar]: X-linked congenital hemolytic anemia, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung pubmed:26944472 pubmed:26944472,cosmic_study:417 Xq27.1 X 139789451G> T null T N 415 415 missense 0.993 probably damaging 0.01 deleterious 1 Hemolytic anemia, congenital, X-linked (HAXL) An X-linked hematologic disease characterized by shortened survival of erythrocytes due to congenital hemolysis that cannot be compensated by bone marrow activity. Clinical features are mild jaundice and anemia. Red cells morphology is normal. MIM:301015 pubmed:26944472 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl,dbSNP rs1556323334 NCI-TCGA Cosmic [UniProt]: decreased phosphatidylserine translocation from the outer to the inner leaflet of erythrocytes cell membrane, [ClinVar]: X-linked congenital hemolytic anemia, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung pubmed:26944472 pubmed:26944472,cosmic_study:417 Xq27.1 X 139789451G> T null T N 415 415 missense 0.993 probably damaging 0.01 deleterious 1 X-linked congenital hemolytic anemia MIM:301015 ClinVar:RCV000678207 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1199299060 Xq27.1 X 139789445T> C null N S 417 417 missense 0.984 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1370378925 Xq27.1 X 139789432G> T null F L 421 421 missense 0.971 probably damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed rs144350443 Xq27.1 X 139789410G> C null H D 429 429 missense 0.22 benign 0.2 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs754118102 Xq27.1 X 139789409T> C null H R 429 429 missense 0.22 benign 0.34 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs750497013 Xq27.1 X 139789370G> C null S C 442 442 missense 0.771 possibly damaging 0.09 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs750497013 Xq27.1 X 139789370G> A null S F 442 442 missense 0.715 possibly damaging 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs201410017 Xq27.1 X 139789350T> C null T A 449 449 missense 0.0 benign 0.59 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1321203663 Xq27.1 X 139789341C> G null D H 452 452 missense 0.576 possibly damaging 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1392732207 Xq27.1 X 139789338T> G null K Q 453 453 missense 0.098 benign 0.28 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs762947590 Xq27.1 X 139789337T> C null K R 453 453 missense 0.003 benign 0.33 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757213577 Xq27.1 X 139788324A> G null L P 463 463 missense 0.795 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,NCI-TCGA,TOPMed,gnomAD rs752658279 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139788322G> A null R C 464 464 missense 0.996 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs765107168 cosmic curated [Cosmic]: pancreas cosmic_study:382 Xq27.1 X 139788321C> T null R H 464 464 missense 0.995 probably damaging 0.07 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs765107168 Xq27.1 X 139788321C> A null R L 464 464 missense 0.99 probably damaging 0.2 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs754814053 Xq27.1 X 139788318G> A null A V 465 465 missense 0.99 probably damaging 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1259162771 Xq27.1 X 139788315A> T null L * 466 466 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753597334 Xq27.1 X 139788297A> T null V E 472 472 missense 0.993 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs766006082 Xq27.1 X 139788286T> C null T A 476 476 missense 0.0 benign 0.55 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC rs765633736 Xq27.1 X 139788282T> C null N S 477 477 2.65E-4 missense 0.36 benign 0.67 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1186907990 Xq27.1 X 139788279T> C null D G 478 478 missense 0.994 probably damaging 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1045378104 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq27.1 X 139788280C> T null D N 478 478 missense 0.994 probably damaging 0.1 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569455798 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139788262T> C null T A 484 484 missense 0.0 benign 0.78 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs775027303 Xq27.1 X 139788261G> A null T I 484 484 missense 0.007 benign 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs769252832 Xq27.1 X 139788253C> T null A T 487 487 missense 0.007 benign 0.5 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs949658326 Xq27.1 X 139788252G> A null A V 487 487 missense 0.142 benign 0.24 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1168194508 Xq27.1 X 139788248T> A null E D 488 488 missense 0.001 benign 0.72 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1353366586 Xq27.1 X 139788244T> C null T A 490 490 missense 0.984 probably damaging 0.66 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs749716771 Xq27.1 X 139788238T> C null I V 492 492 missense 0.0 benign 0.47 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1353928921 Xq27.1 X 139788234G> A null S F 493 493 missense 0.583 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs773311103 Xq27.1 X 139788214C> G null A P 500 500 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs773311103 Xq27.1 X 139788214C> T null A T 500 500 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs754325052 Xq27.1 X 139788196T> C null K E 506 506 2.65E-4 missense 0.363 benign 0.37 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs910569070 Xq27.1 X 139787242T> C null Y C 508 508 missense 0.405 benign 0.41 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs779081002 Xq27.1 X 139787243A> G null Y H 508 508 5.3E-4 missense 0.0 benign 0.23 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs773974402 Xq27.1 X 139787240C> T null G R 509 509 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs764752939 Xq27.1 X 139787234T> C null T A 511 511 missense 0.984 probably damaging 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1477604934 Xq27.1 X 139787233G> A null T I 511 511 missense 0.996 probably damaging 0.26 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1160031262 Xq27.1 X 139787231A> C null F V 512 512 missense 0.981 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs867529692 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 Xq27.1 X 139787219G> A null R * 516 516 missense 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367833293 Xq27.1 X 139787218C> T null R Q 516 516 2.65E-4 missense 0.0 benign 0.25 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1459694543 Xq27.1 X 139787213C> G null G R 518 518 missense 0.901 possibly damaging 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs17281983 Xq27.1 X 139787209T> C null Y C 519 519 0.03099 missense 0.0 benign 0.16 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs776955107 Xq27.1 X 139787210A> T null Y N 519 519 missense 0.024 benign 0.28 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747151951 Xq27.1 X 139787203C> T null R K 521 521 missense 0.0 benign 0.4 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP rs376608133 Xq27.1 X 139787201C> T null V I 522 522 missense 0.003 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146526072 Xq27.1 X 139787191T> C null Q R 525 525 2.65E-4 missense 0.961 probably damaging 0.79 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs147128476 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139787188C> A null R I 526 526 missense 0.732 possibly damaging 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs147128476 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 Xq27.1 X 139787188C> T null R K 526 526 missense 0.01 benign 0.57 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1348946284 Xq27.1 X 139787179A> G null I T 529 529 missense 0.001 benign 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1262768901 Xq27.1 X 139787180T> C null I V 529 529 missense 0.0 benign 0.54 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs759997844 Xq27.1 X 139785295C> T null E K 533 533 missense 0.984 probably damaging 0.67 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs778570495 Xq27.1 X 139785286G> A null H Y 536 536 2.65E-4 missense 0.961 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs760892745 Xq27.1 X 139785268C> T null A T 542 542 missense 0.024 benign 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs866784413 Xq27.1 X 139785261C> T null R Q 544 544 missense 0.982 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase NCI-TCGA,gnomAD rs758140991 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139785262G> A null R W 544 544 missense 0.996 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1267066549 Xq27.1 X 139785258C> T null R Q 545 545 missense 0.982 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1033024084 NCI-TCGA Cosmic [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 Xq27.1 X 139785256G> A null R C 546 546 missense 0.996 probably damaging 0.03 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1239527186 Xq27.1 X 139785244T> C null I V 550 550 missense 0.856 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs748136174 Xq27.1 X 139785241C> G null V L 551 551 missense 0.963 probably damaging 0.17 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs999502806 Xq27.1 X 139785228T> C null E G 555 555 missense 0.0 benign 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs752129647 Xq27.1 X 139783263G> T null D E 557 557 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1446151211 Xq27.1 X 139783265C> T null D N 557 557 missense 0.045 benign 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1004687043 Xq27.1 X 139783264T> A null D V 557 557 missense 0.067 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs898617886 Xq27.1 X 139783260T> C null I M 558 558 missense 0.621 possibly damaging 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1398144422 Xq27.1 X 139783262T> C null I V 558 558 missense 0.063 benign 0.24 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1466981278 Xq27.1 X 139783258A> T null L H 559 559 missense 0.198 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,TOPMed,gnomAD rs148368628 Xq27.1 X 139783259G> C null L V 559 559 missense 0.015 benign 0.17 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs759958294 cosmic curated [Cosmic]: large_intestine cosmic_study:376 Xq27.1 X 139783234G> A null S L 567 567 missense 0.0 benign 0.01 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs759958294 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:21720365,cosmic_study:331 Xq27.1 X 139783234G> C null S W 567 567 missense 0.523 possibly damaging 0.0 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1030233190 Xq27.1 X 139783199C> G null E Q 579 579 missense 0.003 benign 0.32 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs144410603 Xq27.1 X 139783193T> C null T A 581 581 missense 0.045 benign 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs762001124 Xq27.1 X 139783178C> T null E K 586 586 missense 0.045 benign 0.13 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1255257978 Xq27.1 X 139783175G> A null R C 587 587 missense 0.481 possibly damaging 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs774279676 Xq27.1 X 139783174C> T null R H 587 587 missense 0.0 benign 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs750761999 Xq27.1 X 139782728C> A null D Y 591 591 missense 0.897 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1158144993 Xq27.1 X 139782719G> A null R W 594 594 missense 0.407 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs761934223 Xq27.1 X 139782716T> C null T A 595 595 missense 0.027 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1426891032 Xq27.1 X 139782697T> C null K R 601 601 missense 0.16 benign 0.71 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs149608378 Xq27.1 X 139782682T> A null D V 606 606 missense 0.462 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs763035660 Xq27.1 X 139782673T> C null E G 609 609 missense 0.073 benign 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,NCI-TCGA,TOPMed,gnomAD rs776753802 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 Xq27.1 X 139782670C> A null R I 610 610 missense 0.241 benign 0.1 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1478751562 Xq27.1 X 139782667A> G null I T 611 611 missense 0.107 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs372582743 Xq27.1 X 139782665T> C null N D 612 612 missense 0.0 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1212483917 Xq27.1 X 139782653T> C null I V 616 616 missense 0.0 benign 0.26 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs773139955 Xq27.1 X 139782650C> G null E Q 617 617 missense 0.5 possibly damaging 0.18 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs772716732 Xq27.1 X 139782628T> C null D G 624 624 2.65E-4 missense 0.045 benign 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1271326200 cosmic curated [Cosmic]: lung pubmed:22975805,cosmic_study:453 Xq27.1 X 139782620C> T null E K 627 627 missense 0.243 benign 0.53 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1319201149 Xq27.1 X 139782605C> T null V I 632 632 missense 0.001 benign 0.28 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569452773 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:152,cosmic_study:376 Xq27.1 X 139782599C> T null D N 634 634 missense 0.276 benign 0.52 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569452766 Xq27.1 X 139782595T> C null D G 635 635 missense 0.074 benign 0.33 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1333137198 Xq27.1 X 139782591A> C null I M 636 636 missense 0.198 benign 0.14 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs199734080 Xq27.1 X 139782592A> G null I T 636 636 missense 0.0 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1325156070 Xq27.1 X 139782570A> C null I M 643 643 missense 0.141 benign 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs754479098 Xq27.1 X 139782562G> C null T S 646 646 missense 0.013 benign 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs748765102 Xq27.1 X 139782547T> C null K R 651 651 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1323399487 Xq27.1 X 139774936G> C null A G 657 657 missense 0.99 probably damaging 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs773227972 Xq27.1 X 139774927A> G null I T 660 660 missense 0.974 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs771786667 Xq27.1 X 139774924T> G null E A 661 661 missense 0.123 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1350736296 Xq27.1 X 139774913C> A null A S 665 665 missense 0.003 benign 0.71 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201635387 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139774906C> T null G D 667 667 2.65E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1427074505 Xq27.1 X 139774892C> T null V M 672 672 missense 0.996 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1477535693 Xq27.1 X 139774885G> C null T S 674 674 missense 0.984 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1180690737 Xq27.1 X 139774873A> G null M T 678 678 missense 0.914 probably damaging 0.19 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs954915836 Xq27.1 X 139774874T> C null M V 678 678 missense 0.721 possibly damaging 0.15 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs138448381 Xq27.1 X 139774849T> C null Y C 686 686 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs375231544 Xq27.1 X 139774841G> A null R C 689 689 missense 0.996 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs780969333 Xq27.1 X 139774840C> T null R H 689 689 2.65E-4 missense 0.995 probably damaging 0.05 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs780969333 Xq27.1 X 139774840C> A null R L 689 689 2.65E-4 missense 0.99 probably damaging 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757591056 Xq27.1 X 139774824G> T null N K 694 694 missense 0.045 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1200248794 Xq27.1 X 139774823T> C null T A 695 695 missense 0.984 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs751934470 Xq27.1 X 139774818C> G null E D 696 696 missense 0.984 probably damaging 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs921050970 Xq27.1 X 139774816A> G null L P 697 697 missense 0.997 probably damaging 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs752903750 Xq27.1 X 139774804G> C null T S 701 701 missense 0.984 probably damaging 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759642275 Xq27.1 X 139774798T> A null K I 703 703 missense 0.997 probably damaging 0.05 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs750417789 Xq27.1 X 139774796T> C null T A 704 704 missense 0.035 benign 0.25 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs767458821 Xq27.1 X 139774795G> A null T I 704 704 missense 0.402 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs145685259 Xq27.1 X 139774792A> G null I T 705 705 missense 0.003 benign 0.56 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1434789567 Xq27.1 X 139774781C> T null E K 709 709 missense 0.984 probably damaging 0.54 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs774182787 Xq27.1 X 139774769C> G null D H 713 713 missense 0.999 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs774182787 Xq27.1 X 139774769C> T null D N 713 713 missense 0.994 probably damaging 0.16 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs768258707 Xq27.1 X 139774766G> C null R G 714 714 missense 0.99 probably damaging 0.23 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs371692295 Xq27.1 X 139774765C> G null R P 714 714 missense 0.995 probably damaging 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs371692295 Xq27.1 X 139774765C> T null R Q 714 714 missense 0.982 probably damaging 0.28 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs368485065 Xq27.1 X 139774747A> C null I R 720 720 missense 0.107 benign 0.26 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs368485065 Xq27.1 X 139774747A> G null I T 720 720 missense 0.0 benign 0.72 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs754885016 Xq27.1 X 139774743T> G null E D 721 721 2.65E-4 missense 0.001 benign 0.63 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs769314385 Xq27.1 X 139774744T> C null E G 721 721 missense 0.072 benign 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1042049467 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139774739G> A null R C 723 723 missense 0.0 benign 0.04 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs377281877 Xq27.1 X 139774738C> T null R H 723 723 missense 0.0 benign 0.7 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs771460135 Xq27.1 X 139774729A> G null L S 726 726 missense 0.996 probably damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1283031975 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xq27.1 X 139774726A> G null L P 727 727 missense 0.141 benign 0.14 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778207882 Xq27.1 X 139774723T> C null H R 728 728 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1284740285 Xq27.1 X 139774719C> A null E D 729 729 missense 0.003 benign 0.68 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1414058519 Xq27.1 X 139774714G> A null P L 731 731 missense 0.675 possibly damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1353384741 Xq27.1 X 139774712T> C null K E 732 732 missense 0.049 benign 0.89 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1035910505 Xq27.1 X 139774705G> A null T I 734 734 missense 0.021 benign 0.48 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs752991927 Xq27.1 X 139774700T> C null S G 736 736 missense 0.024 benign 0.62 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1360138226 Xq27.1 X 139774699C> T null S N 736 736 missense 0.0 benign 0.69 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1407181062 Xq27.1 X 139774696A> C null F C 737 737 missense 0.123 benign 0.18 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1157124634 Xq27.1 X 139774697A> C null F V 737 737 missense 0.006 benign 0.39 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs775150285 Xq27.1 X 139768427T> A null T S 742 742 missense 0.073 benign 0.38 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1033302877 Xq27.1 X 139768412A> C null Y D 747 747 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1406317157 Xq27.1 X 139768402A> T null I N 750 750 missense 0.992 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1279944188 Xq27.1 X 139768387G> A null T I 755 755 missense 0.139 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs769402351 Xq27.1 X 139768379G> A null L F 758 758 missense 0.791 possibly damaging 0.14 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1326019066 Xq27.1 X 139768375A> G null I T 759 759 missense 0.231 benign 0.31 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759108325 Xq27.1 X 139768373G> T null L I 760 760 missense 0.255 benign 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1287370076 Xq27.1 X 139768372A> C null L R 760 760 missense 0.829 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1348627778 Xq27.1 X 139768363C> T null S N 763 763 missense 0.001 benign 0.38 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs910150280 Xq27.1 X 139768352T> C null S G 767 767 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1000068717 Xq27.1 X 139768331T> A null I F 774 774 missense 0.049 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs776204130 Xq27.1 X 139768317T> C null I M 778 778 missense 0.646 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1325293210 Xq27.1 X 139768315C> A null C F 779 779 missense 0.231 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs989701905 Xq27.1 X 139768313T> G null M L 780 780 missense 0.0 benign 0.32 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1426422415 Xq27.1 X 139768291C> T null C Y 787 787 missense 0.994 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs773545482 Xq27.1 X 139768285C> T null R Q 789 789 missense 0.982 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1332676000 Xq27.1 X 139763418T> C null I V 798 798 missense 0.856 possibly damaging 0.62 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759236051 Xq27.1 X 139763415C> T null V I 799 799 missense 0.963 probably damaging 0.11 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs759236051 Xq27.1 X 139763415C> G null V L 799 799 missense 0.963 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1005483923 Xq27.1 X 139763385G> A null P S 809 809 missense 0.995 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs776092185 Xq27.1 X 139763382T> C null I V 810 810 missense 0.856 possibly damaging 0.14 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs760064762 Xq27.1 X 139763345C> G null S T 822 822 missense 0.971 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1269425951 Xq27.1 X 139763336A> G null L S 825 825 missense 0.996 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1005775674 Xq27.1 X 139762094T> C null K R 833 833 missense 0.984 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs951603041 Xq27.1 X 139762091T> A null E V 834 834 missense 0.993 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs185013366 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139762086G> A null R C 836 836 5.3E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,NCI-TCGA,TOPMed,gnomAD rs768204585 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139762085C> T null R H 836 836 missense 0.995 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs768204585 Xq27.1 X 139762085C> A null R L 836 836 missense 0.99 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1355282473 Xq27.1 X 139762061T> C null Y C 844 844 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1412617689 Xq27.1 X 139762035T> G null K Q 853 853 missense 0.174 benign 0.11 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs769086311 Xq27.1 X 139762034T> C null K R 853 853 missense 0.003 benign 0.5 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC rs775817548 Xq27.1 X 139762020C> A null A S 858 858 missense 0.049 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1569440944 Xq27.1 X 139762004T> C null Y C 863 863 missense 0.998 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1452463514 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139761999C> T null V M 865 865 missense 0.996 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1166888505 Xq27.1 X 139761965T> C null Y C 876 876 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1417098205 Xq27.1 X 139757866T> C null N S 878 878 missense 0.979 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1478698969 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139757864G> C null L V 879 879 missense 0.34 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs750027589 Xq27.1 X 139757856G> T null F L 881 881 missense 0.961 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs755716761 Xq27.1 X 139757857A> G null F S 881 881 missense 0.981 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1445486422 Xq27.1 X 139757855T> C null I V 882 882 missense 0.811 possibly damaging 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs767149410 Xq27.1 X 139757845T> C null Q R 885 885 missense 0.946 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1156848494 Xq27.1 X 139757841A> C null F L 886 886 missense 0.961 probably damaging 0.08 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs752139499 Xq27.1 X 139757842A> T null F Y 886 886 missense 0.961 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1269965176 Xq27.1 X 139757818A> G null F S 894 894 missense 0.981 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1226320264 Xq27.1 X 139757813G> T null Q K 896 896 missense 0.915 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,gnomAD rs376433134 Xq27.1 X 139757812T> C null Q R 896 896 missense 0.946 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs750121703 Xq27.1 X 139750151G> A null P L 898 898 missense 0.997 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs938615516 Xq27.1 X 139750152G> A null P S 898 898 missense 0.995 probably damaging 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1431293873 Xq27.1 X 139750145T> C null Y C 900 900 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1282061977 Xq27.1 X 139750121T> A null Y F 908 908 missense 0.984 probably damaging 0.21 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1234531315 Xq27.1 X 139750112C> G null C S 911 911 missense 0.981 probably damaging 0.44 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1448997772 Xq27.1 X 139750088G> A null A V 919 919 missense 0.255 benign 0.66 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1336286564 Xq27.1 X 139750085T> C null Y C 920 920 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1328036355 Xq27.1 X 139750083T> C null S G 921 921 missense 0.218 benign 0.45 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs760188614 Xq27.1 X 139750065T> G null I L 927 927 missense 0.011 benign 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs1008485451 Xq27.1 X 139750046G> A null T I 933 933 missense 0.003 benign 0.22 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1434325191 Xq27.1 X 139750047T> A null T S 933 933 missense 0.161 benign 0.58 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1263335193 Xq27.1 X 139750037G> A null P L 936 936 missense 0.997 probably damaging 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1393418716 Xq27.1 X 139750038G> A null P S 936 936 missense 0.995 probably damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs767808205 Xq27.1 X 139750035G> A null R * 937 937 2.65E-4 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,gnomAD rs201400223 Xq27.1 X 139750034C> T null R Q 937 937 missense 0.982 probably damaging 0.31 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1232833907 Xq27.1 X 139750028T> C null Y C 939 939 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1180236840 Xq27.1 X 139750026T> C null M V 940 940 missense 0.013 benign 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs79484917 Xq27.1 X 139745856T> A null K * 941 941 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs775449508 Xq27.1 X 139745854T> A null K N 941 941 missense 0.003 benign 0.18 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs745623704 Xq27.1 X 139745838T> A null M L 947 947 missense 0.721 possibly damaging 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs745623704 Xq27.1 X 139745838T> C null M V 947 947 missense 0.721 possibly damaging 0.05 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs781037262 Xq27.1 X 139745831T> C null Q R 949 949 missense 0.961 probably damaging 0.66 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs756953682 Xq27.1 X 139745823G> A null P S 952 952 missense 0.995 probably damaging 0.25 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs746593846 Xq27.1 X 139745814A> G null Y H 955 955 missense 0.001 benign 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1187689265 Xq27.1 X 139745790C> T null E K 963 963 missense 0.438 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs12849115 Xq27.1 X 139745780A> T null V E 966 966 missense 0.993 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ESP,NCI-TCGA,TOPMed,dbSNP,gnomAD rs55724992 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xq27.1 X 139745781C> T null V M 966 966 0.02596 missense 0.996 probably damaging 0.01 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs777164604 Xq27.1 X 139745778A> G null F L 967 967 missense 0.971 probably damaging 0.05 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs944483041 Xq27.1 X 139745763A> C null Y D 972 972 missense 0.848 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1447122785 Xq27.1 X 139745762T> G null Y S 972 972 missense 0.697 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs373196740 Xq27.1 X 139745760A> G null F L 973 973 missense 0.006 benign 0.35 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs753180192 Xq27.1 X 139745754A> G null F L 975 975 missense 0.971 probably damaging 0.1 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1193587246 Xq27.1 X 139745751G> C null Q E 976 976 missense 0.028 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs987558525 Xq27.1 X 139745745C> T null A T 978 978 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1293768298 Xq27.1 X 139745732T> C null E G 982 982 missense 0.072 benign 0.68 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed,gnomAD rs755385365 Xq27.1 X 139745729T> C null N S 983 983 missense 0.142 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs757891503 Xq27.1 X 139743610C> A null W C 990 990 missense 0.771 possibly damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1268581461 Xq27.1 X 139743608G> C null T S 991 991 missense 0.984 probably damaging 0.4 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs747675445 Xq27.1 X 139743605A> G null F S 992 992 missense 0.406 benign 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1395262664 Xq27.1 X 139743582A> T null L I 1000 1000 missense 0.243 benign 0.09 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs779455838 Xq27.1 X 139743569A> G null V A 1004 1004 missense 0.977 probably damaging 0.07 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1166383481 Xq27.1 X 139741084T> C null D G 1011 1011 missense 0.994 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs756474288 Xq27.1 X 139741078C> T null R Q 1013 1013 missense 0.141 benign 0.12 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,NCI-TCGA,TOPMed,gnomAD rs750778379 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq27.1 X 139741069G> A null T M 1016 1016 missense 0.998 probably damaging 0.0 deleterious 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs151005790 Xq27.1 X 139741062T> C null I M 1018 1018 missense 0.04 benign 0.24 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1430896781 Xq27.1 X 139741063A> G null I T 1018 1018 missense 0.462 possibly damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1480212800 Xq27.1 X 139741042C> A null G V 1025 1025 missense 0.999 probably damaging 0.11 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1391820454 Xq27.1 X 139741035T> G null L F 1027 1027 missense 0.996 probably damaging 0.0 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs201052330 Xq27.1 X 139741027T> C null Y C 1030 1030 2.65E-4 missense 0.998 probably damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,TOPMed,gnomAD rs201052330 Xq27.1 X 139741027T> A null Y F 1030 1030 2.65E-4 missense 0.984 probably damaging 0.24 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1213368521 Xq27.1 X 139741007A> G null W R 1037 1037 missense 0.262 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1348871617 Xq27.1 X 139740994A> G null I T 1041 1041 missense 0.053 benign 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1165464661 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 Xq27.1 X 139738068G> A null P S 1043 1043 missense 0.995 probably damaging 0.06 tolerated 1 A0A067XG54 ATP11C Phospholipid-transporting ATPase Ensembl rs868765474 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139738031G> A null A V 1055 1055 missense 0.99 probably damaging 0.66 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1400774603 Xq27.1 X 139738024C> G null M I 1057 1057 missense 0.813 possibly damaging 0.03 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1261374106 Xq27.1 X 139738016G> A null S F 1060 1060 missense 0.994 probably damaging 0.01 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs890191882 Xq27.1 X 139738013A> G null V A 1061 1061 missense 0.06 benign 0.21 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1295591659 Xq27.1 X 139738003C> T null W * 1064 1064 stop gained 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1296371577 Xq27.1 X 139737996T> C null I V 1067 1067 missense 0.0 benign 0.06 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs778114321 Xq27.1 X 139737990G> C null L V 1069 1069 missense 0.082 benign 0.16 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs142741321 Xq27.1 X 139737987G> T null L I 1070 1070 missense 0.979 probably damaging 0.4 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1386579435 Xq27.1 X 139737981A> G null F L 1072 1072 missense 0.961 probably damaging 0.5 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1296787479 Xq27.1 X 139737978T> C null I V 1073 1073 missense 0.001 benign 1.0 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1288943023 Xq27.1 X 139737966G> A null P S 1077 1077 missense 0.994 probably damaging 0.02 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1373108916 Xq27.1 X 139737945A> T null L I 1084 1084 missense 0.001 benign 0.21 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1386385212 Xq27.1 X 139737940C> A null K N 1085 1085 missense 0.99 probably damaging 0.45 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,gnomAD rs374132692 Xq27.1 X 139737938T> C null N S 1086 1086 missense 0.009 benign 0.46 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1381247509 Xq27.1 X 139737936C> T null V I 1087 1087 missense 0.949 probably damaging 0.39 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,gnomAD rs750271759 Xq27.1 X 139737929C> T null R K 1089 1089 missense 0.937 probably damaging 0.93 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed rs1244523745 Xq27.1 X 139737926C> G null R T 1090 1090 missense 0.974 probably damaging 0.46 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1430518922 Xq27.1 X 139737920G> T null A D 1092 1092 missense 0.996 probably damaging 0.26 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP rs371297467 Xq27.1 X 139737918T> C null R G 1093 1093 missense 0.974 probably damaging 0.05 deleterious 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ExAC,TOPMed rs779997719 Xq27.1 X 139728958G> A null P L 1095 1095 missense 0.01 benign 0.32 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase 1000Genomes,ExAC,gnomAD rs202068265 Xq27.1 X 139728946A> G null L P 1099 1099 2.65E-4 missense 0.991 probably damaging 0.33 tolerated 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase ESP,ExAC,TOPMed,gnomAD rs147813784 Xq27.1 X 139728940A> G null M T 1101 1101 missense 0.01 benign 1.0 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase TOPMed,gnomAD rs1186048958 Xq27.1 X 139728941T> C null M V 1101 1101 missense 0.001 benign 0.37 tolerated - low confidence 0 A0A067XG54 ATP11C Phospholipid-transporting ATPase gnomAD rs1273333146 Xq27.1 X 139728913C> T null S N 1110 1110 missense 0.007 benign 0.45 tolerated - low confidence 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs1008485451 Xq27.1 X 139750046G> A null T I 3 3 missense 0.138 benign 0.18 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs1434325191 Xq27.1 X 139750047T> A null T S 3 3 missense 0.012 benign 0.33 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1263335193 Xq27.1 X 139750037G> A null P L 6 6 missense 0.897 possibly damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1393418716 Xq27.1 X 139750038G> A null P S 6 6 missense 0.329 benign 0.03 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) 1000Genomes,ExAC,gnomAD rs767808205 Xq27.1 X 139750035G> A null R * 7 7 2.65E-4 stop gained 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP,ExAC,gnomAD rs201400223 Xq27.1 X 139750034C> T null R Q 7 7 missense 0.009 benign 0.16 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1232833907 Xq27.1 X 139750028T> C null Y C 9 9 missense 1.0 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1180236840 Xq27.1 X 139750026T> C null M V 10 10 missense 0.3 benign 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs79484917 Xq27.1 X 139745856T> A null K * 11 11 stop gained 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,TOPMed,gnomAD rs775449508 Xq27.1 X 139745854T> A null K N 11 11 missense 0.015 benign 0.26 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs745623704 Xq27.1 X 139745838T> A null M L 17 17 missense 0.003 benign 1.0 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs745623704 Xq27.1 X 139745838T> C null M V 17 17 missense 0.097 benign 0.05 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs781037262 Xq27.1 X 139745831T> C null Q R 19 19 missense 0.001 benign 1.0 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,TOPMed,gnomAD rs756953682 Xq27.1 X 139745823G> A null P S 22 22 missense 0.219 benign 0.45 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,TOPMed,gnomAD rs746593846 Xq27.1 X 139745814A> G null Y H 25 25 missense 0.028 benign 0.05 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1187689265 Xq27.1 X 139745790C> T null E K 33 33 missense 0.205 benign 0.07 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs12849115 Xq27.1 X 139745780A> T null V E 36 36 missense 0.945 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) 1000Genomes,ESP,NCI-TCGA,TOPMed,dbSNP,gnomAD rs55724992 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xq27.1 X 139745781C> T null V M 36 36 0.02596 missense 0.861 possibly damaging 0.01 deleterious 1 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,TOPMed,gnomAD rs777164604 Xq27.1 X 139745778A> G null F L 37 37 missense 0.172 benign 0.04 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs944483041 Xq27.1 X 139745763A> C null Y D 42 42 missense 0.786 possibly damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1447122785 Xq27.1 X 139745762T> G null Y S 42 42 missense 0.617 possibly damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP,ExAC,TOPMed,gnomAD rs373196740 Xq27.1 X 139745760A> G null F L 43 43 missense 0.036 benign 0.28 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs753180192 Xq27.1 X 139745754A> G null F L 45 45 missense 0.012 benign 0.07 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1193587246 Xq27.1 X 139745751G> C null Q E 46 46 missense 0.001 benign 0.95 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs987558525 Xq27.1 X 139745745C> T null A T 48 48 missense 0.001 benign 1.0 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1293768298 Xq27.1 X 139745732T> C null E G 52 52 missense 0.0 benign 0.71 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,TOPMed,gnomAD rs755385365 Xq27.1 X 139745729T> C null N S 53 53 missense 0.843 possibly damaging 0.1 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs757891503 Xq27.1 X 139743610C> A null W C 60 60 missense 0.447 possibly damaging 0.03 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1268581461 Xq27.1 X 139743608G> C null T S 61 61 missense 0.075 benign 0.33 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs747675445 Xq27.1 X 139743605A> G null F S 62 62 missense 0.936 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1395262664 Xq27.1 X 139743582A> T null L I 70 70 missense 0.805 possibly damaging 0.02 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs779455838 Xq27.1 X 139743569A> G null V A 74 74 missense 0.928 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs1166383481 Xq27.1 X 139741084T> C null D G 81 81 missense 0.999 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs756474288 Xq27.1 X 139741078C> T null R Q 83 83 missense 0.75 possibly damaging 0.04 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs750778379 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq27.1 X 139741069G> A null T M 86 86 missense 1.0 probably damaging 0.0 deleterious 1 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP,ExAC,TOPMed,gnomAD rs151005790 Xq27.1 X 139741062T> C null I M 88 88 missense 0.168 benign 0.21 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1430896781 Xq27.1 X 139741063A> G null I T 88 88 missense 0.627 possibly damaging 0.05 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1480212800 Xq27.1 X 139741042C> A null G V 95 95 missense 1.0 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1391820454 Xq27.1 X 139741035T> G null L F 97 97 missense 1.0 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201052330 Xq27.1 X 139741027T> C null Y C 100 100 2.65E-4 missense 0.992 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201052330 Xq27.1 X 139741027T> A null Y F 100 100 2.65E-4 missense 0.248 benign 0.13 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1213368521 Xq27.1 X 139741007A> G null W R 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs1348871617 Xq27.1 X 139740994A> G null I T 111 111 missense 0.852 possibly damaging 0.01 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1165464661 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 Xq27.1 X 139738068G> A null P S 113 113 missense 1.0 probably damaging 0.0 deleterious 1 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs868765474 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq27.1 X 139738031G> A null A V 125 125 missense 0.187 benign 1.0 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1400774603 Xq27.1 X 139738024C> G null M I 127 127 missense 0.036 benign 0.03 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs1261374106 Xq27.1 X 139738016G> A null S F 130 130 missense 0.992 probably damaging 0.01 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs890191882 Xq27.1 X 139738013A> G null V A 131 131 missense 0.511 possibly damaging 0.72 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1295591659 Xq27.1 X 139738003C> T null W * 134 134 stop gained 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1296371577 Xq27.1 X 139737996T> C null I V 137 137 missense 0.001 benign 0.03 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs778114321 Xq27.1 X 139737990G> C null L V 139 139 missense 0.09 benign 0.07 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP,ExAC,TOPMed,gnomAD rs142741321 Xq27.1 X 139737987G> T null L I 140 140 missense 0.986 probably damaging 0.14 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1386579435 Xq27.1 X 139737981A> G null F L 142 142 missense 0.003 benign 0.5 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1296787479 Xq27.1 X 139737978T> C null I V 143 143 missense 0.0 benign 1.0 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1288943023 Xq27.1 X 139737966G> A null P S 147 147 missense 0.998 probably damaging 0.0 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1373108916 Xq27.1 X 139737945A> T null L I 154 154 missense 0.077 benign 0.38 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed,gnomAD rs1386385212 Xq27.1 X 139737940C> A null K N 155 155 missense 0.154 benign 0.01 deleterious 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP,ExAC,gnomAD rs374132692 Xq27.1 X 139737938T> C null N S 156 156 missense 0.001 benign 0.06 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1381247509 Xq27.1 X 139737936C> T null V I 157 157 missense 0.007 benign 0.54 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ExAC,gnomAD rs750271759 Xq27.1 X 139737929C> T null R K 159 159 missense 0.024 benign 0.25 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) TOPMed rs1244523745 Xq27.1 X 139737926C> G null R T 160 160 missense 0.172 benign 0.15 tolerated 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1430518922 Xq27.1 X 139737920G> T null A D 162 162 missense 0.031 benign 0.36 tolerated - low confidence 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) ESP rs371297467 Xq27.1 X 139737918T> C null R G 163 163 missense 0.082 benign 0.01 deleterious - low confidence 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) Ensembl rs946964757 Xq27.1 X 139737793G> T null H N 165 165 missense 0.094 benign 0.6 tolerated - low confidence 0 A0A067XG57 ATP11C Phospholipid-transporting ATPase IG (Fragment) gnomAD rs1373882016 Xq27.1 X 139737768T> A null * L 173 173 stop lost 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs781998524 19q13.2 19 41869084A> G null T A 2 2 missense 0.012 benign 0.07 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 TOPMed,gnomAD rs1356155484 19q13.2 19 41869085C> T null T I 2 2 missense 0.03 benign 0.05 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ESP,TOPMed rs371193394 19q13.2 19 41869089G> C null K N 3 3 missense 0.678 possibly damaging 0.04 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841319 19q13.2 19 41869088A> G null K R 3 3 missense 0.327 benign 0.24 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841323 19q13.2 19 41869092C> G null I M 4 4 missense 0.206 benign 0.02 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs782350250 19q13.2 19 41869094A> G null Y C 5 5 missense 0.484 possibly damaging 0.01 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 TOPMed,gnomAD rs1425684767 19q13.2 19 41869102C> T null R C 8 8 missense 0.031 benign 0.09 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed rs782814286 19q13.2 19 41869103G> A null R H 8 8 missense 0.031 benign 0.07 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed rs782814286 19q13.2 19 41869103G> C null R P 8 8 missense 0.054 benign 0.03 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl,dbSNP rs121908649 [ClinVar]: Diamond-Blackfan anemia 1 pubmed:10598818 19q13.2 19 41869108A> T null R * 10 10 missense 0 Diamond-Blackfan anemia 1 (DBA1) Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50% of affected individuals, and growth retardation in 30% of affected individuals. MIM:105650 pubmed:20301769,ClinVar:RCV000033185 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl rs1568795314 19q13.2 19 41869114G> A null G S 12 12 missense 0.641 possibly damaging 0.02 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs782752734 19q13.2 19 41869117G> A null V I 13 13 missense 0.063 benign 0.12 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs74678920 19q13.2 19 41869122G> C null M I 14 14 missense 0.0 benign 0.28 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841342 19q13.2 19 41869129C> T null H Y 17 17 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841343 19q13.2 19 41869133T> A null F Y 18 18 missense 0.052 benign 0.13 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 TOPMed,gnomAD rs1253528744 19q13.2 19 41869136G> C null S T 19 19 missense 0.098 benign 0.11 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 NCI-TCGA,dbSNP,gnomAD rs61762293 [ClinVar]: Diamond-Blackfan anemia 1, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:9988267 19q13.2 19 41869138C> T null R * 20 20 missense 0 Diamond-Blackfan anemia 1 (DBA1) Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50% of affected individuals, and growth retardation in 30% of affected individuals. MIM:105650 pubmed:20301769,ClinVar:RCV000033182 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs781883244 19q13.2 19 41869139G> A null R Q 20 20 missense 0.509 possibly damaging 0.13 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841352 19q13.2 19 41869141G> A null G S 21 21 missense 0.048 benign 0.63 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841355 19q13.2 19 41869151G> A null S N 24 24 missense 0.026 benign 0.15 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl rs200311629 19q13.2 19 41869152T> A null S R 24 24 missense 0.649 possibly damaging 0.0 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs782627671 19q13.2 19 41869159C> T null R C 27 27 missense 0.24 benign 0.04 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs782345448 19q13.2 19 41869163G> A null R Q 28 28 missense 0.006 benign 0.15 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl rs1131691437 19q13.2 19 41869166T> A null V D 29 29 missense 0.721 possibly damaging 0.0 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs782623451 19q13.2 19 41869172A> G null Q R 31 31 missense 0.483 possibly damaging 0.02 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 1000Genomes,ExAC,gnomAD rs559197158 19q13.2 19 41869174G> A null A T 32 32 2.0E-4 missense 0.34 benign 0.13 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841377 19q13.2 19 41869205A> G null D G 42 42 missense 0.049 benign 0.04 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs782118495 19q13.2 19 41869212T> A null D E 44 44 missense 0.021 benign 0.3 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841561 19q13.2 19 41869703C> T null R C 47 47 missense 0.302 benign 0.07 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,NCI-TCGA,TOPMed,gnomAD rs782437157 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41869707A> G null K R 48 48 missense 0.012 benign 0.72 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 TOPMed rs1288261333 19q13.2 19 41869716C> T null P L 51 51 missense 0.155 benign 0.11 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs781898903 19q13.2 19 41869715C> A null P T 51 51 missense 0.024 benign 0.24 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841573 19q13.2 19 41869719A> T null Q L 52 52 missense 0.078 benign 0.02 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841573 19q13.2 19 41869719A> G null Q R 52 52 missense 0.078 benign 0.04 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl,dbSNP rs786200936 [UniProt]: affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit 19q13.2 19 41869722G> A null G E 53 53 missense 0.866 possibly damaging 0.05 deleterious 0 Diamond-Blackfan anemia 1 (DBA1) A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. MIM:105650 pubmed:10590074,pubmed:11112378,pubmed:12586610,pubmed:12750732,pubmed:15384984,pubmed:17517689,pubmed:18412286,pubmed:9988267 A0A075B6E2 RPS19 40S ribosomal protein S19 Ensembl,dbSNP rs1060503688 [ClinVar]: Diamond-Blackfan anemia 19q13.2 19 41869724C> T null Q * 54 54 missense 0 Diamond-Blackfan anemia (DBA) Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50% of affected individuals, and growth retardation in 30% of affected individuals. MIM:PS105650 pubmed:20301769,ClinVar:RCV000462953 A0A075B6E2 RPS19 40S ribosomal protein S19 TOPMed rs1357733112 19q13.2 19 41869726A> C null Q H 54 54 missense 0.061 benign 0.02 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ESP,ExAC,dbSNP,gnomAD rs144337183 19q13.2 19 41869748G> T null G * 62 62 missense 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ESP,ExAC,gnomAD rs144337183 19q13.2 19 41869748G> A null G R 62 62 missense 0.047 benign 0.04 deleterious 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,TOPMed,gnomAD rs782608155 19q13.2 19 41869752A> G null Q R 63 63 missense 0.955 probably damaging 0.16 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841995 19q13.2 19 41871351G> C null V L 64 64 missense 0.052 benign 0.1 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 gnomAD rs1555841997 19q13.2 19 41871367A> G null K R 69 69 missense 0.06 benign 0.22 tolerated 0 A0A075B6E2 RPS19 40S ribosomal protein S19 ExAC,gnomAD rs782383871 19q13.2 19 41871372C> T null H Y 71 71 missense 0.077 benign 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1359670387 3p25.2 3 11703028T> C null T A 3 3 missense 0.88 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376550793 NCI-TCGA Cosmic [Cosmic]: prostate, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23525077,cosmic_study:435,cosmic_study:464 3p25.2 3 11703027G> A null T M 3 3 missense 0.987 probably damaging 0.0 deleterious - low confidence 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs776106266 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.2 3 11703009G> C null S C 9 9 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs776106266 3p25.2 3 11703009G> A null S F 9 9 missense 0.908 possibly damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,NCI-TCGA,gnomAD rs768321759 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.2 3 11702997G> T null S Y 13 13 missense 0.851 possibly damaging 0.08 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1193445045 3p25.2 3 11702989G> C null H D 16 16 missense 0.844 possibly damaging 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs746283007 3p25.2 3 11702985G> T null A D 17 17 missense 0.885 possibly damaging 0.24 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs368803680 3p25.2 3 11702978G> T null D E 19 19 missense 0.429 benign 0.74 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1490664912 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.2 3 11702977C> T null E K 20 20 missense 0.043 benign 0.36 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs777919793 3p25.2 3 11702974T> C null K E 21 21 missense 0.024 benign 1.0 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs752998676 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 3p25.2 3 11702971G> A null R C 22 22 missense 0.924 probably damaging 0.01 deleterious 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs752998676 3p25.2 3 11702971G> T null R S 22 22 missense 0.055 benign 0.27 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,NCI-TCGA,gnomAD rs748118489 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.2 3 11602020C> T null E K 23 23 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs781144877 3p25.2 3 11602017C> G null A P 24 24 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs781144877 3p25.2 3 11602017C> T null A T 24 24 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1403013107 3p25.2 3 11602013G> A null A V 25 25 missense 0.92 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs754841204 3p25.2 3 11602010A> C null L R 26 26 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs779424526 3p25.2 3 11602004C> T null G E 28 28 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1344890444 3p25.2 3 11602005C> T null G R 28 28 missense 0.972 probably damaging 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1289271801 3p25.2 3 11602002C> T null E K 29 29 missense 0.911 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1208096405 3p25.2 3 11601999G> C null P A 30 30 missense 0.779 possibly damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs750018493 3p25.2 3 11601998G> A null P L 30 30 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1208096405 3p25.2 3 11601999G> A null P S 30 30 missense 0.426 benign 0.24 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC rs778133331 3p25.2 3 11601992A> T null I K 32 32 missense 0.187 benign 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2276749 3p25.2 3 11601991T> C null I M 32 32 0.07049 missense 0.007 benign 0.92 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs751730160 3p25.2 3 11601980G> A null P L 36 36 missense 0.863 possibly damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs751730160 3p25.2 3 11601980G> T null P Q 36 36 missense 0.502 possibly damaging 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1268135283 3p25.2 3 11601981G> T null P T 36 36 missense 0.856 possibly damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs763282298 3p25.2 3 11601978C> T null V M 37 37 missense 0.596 possibly damaging 0.17 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs769746896 3p25.2 3 11601974G> T null A D 38 38 missense 0.586 possibly damaging 0.1 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs776270476 3p25.2 3 11601956T> A null H L 44 44 missense 0.948 probably damaging 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144647597 3p25.2 3 11601954G> A null R C 45 45 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs779626554 3p25.2 3 11601953C> T null R H 45 45 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs779626554 3p25.2 3 11601953C> A null R L 45 45 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs376396362 3p25.2 3 11601951T> C null T A 46 46 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs745550697 3p25.2 3 11601950G> C null T S 46 46 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1364806914 3p25.2 3 11601948C> T null G S 47 47 missense 0.956 probably damaging 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1258716857 3p25.2 3 11601945G> T null P T 48 48 missense 1.0 probably damaging 0.05 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs753162290 3p25.2 3 11601941G> A null P L 49 49 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs753162290 3p25.2 3 11601941G> C null P R 49 49 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs148585381 3p25.2 3 11601942G> A null P S 49 49 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs1559892389 3p25.2 3 11601939G> C null P A 50 50 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1270656099 3p25.2 3 11601938G> A null P L 50 50 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147530873 3p25.2 3 11601936T> C null I V 51 51 9.98E-4 missense 0.024 benign 0.4 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs755514754 3p25.2 3 11601932C> G null S T 52 52 missense 0.664 possibly damaging 0.09 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,NCI-TCGA,gnomAD rs750503637 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.2 3 11601929G> A null P L 53 53 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs763090675 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.2 3 11601930G> A null P S 53 53 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs763090675 3p25.2 3 11601930G> T null P T 53 53 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs762116536 3p25.2 3 11601912T> C null S G 59 59 missense 0.028 benign 0.37 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs762116536 3p25.2 3 11601912T> G null S R 59 59 missense 0.867 possibly damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs776487590 3p25.2 3 11601911C> G null S T 59 59 missense 0.046 benign 0.1 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs781468006 3p25.2 3 11601909T> G null M L 60 60 missense 0.001 benign 0.32 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1307432360 3p25.2 3 11601903G> T null P T 62 62 missense 0.258 benign 0.07 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs367900736 3p25.2 3 11601895G> C null D E 64 64 missense 0.045 benign 0.21 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs367900736 3p25.2 3 11601895G> T null D E 64 64 missense 0.045 benign 0.21 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77883256 cosmic curated [Cosmic]: large_intestine cosmic_study:376 3p25.2 3 11601894C> T null E K 65 65 3.99E-4 missense 0.007 benign 0.08 tolerated 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77883256 3p25.2 3 11601894C> G null E Q 65 65 3.99E-4 missense 0.389 benign 0.18 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs141754738 3p25.2 3 11601889G> T null D E 66 66 missense 0.015 benign 0.63 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs781630897 3p25.2 3 11601882A> G null C R 69 69 missense 0.94 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs747583213 3p25.2 3 11601878T> G null D A 70 70 missense 0.138 benign 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs934878024 3p25.2 3 11601868G> T null H Q 73 73 missense 0.82 possibly damaging 0.07 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs758954709 3p25.2 3 11601869T> C null H R 73 73 missense 0.073 benign 0.07 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1053780706 3p25.2 3 11601870G> A null H Y 73 73 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs568310981 3p25.2 3 11601867C> A null V F 74 74 2.0E-4 missense 0.706 possibly damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs568310981 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.2 3 11601867C> T null V I 74 74 2.0E-4 missense 0.012 benign 0.26 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,gnomAD rs189985865 3p25.2 3 11601852G> A null R C 79 79 missense 0.993 probably damaging 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs757511716 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 3p25.2 3 11601851C> T null R H 79 79 missense 0.993 probably damaging 0.0 deleterious 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs757511716 3p25.2 3 11601851C> A null R L 79 79 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs757511716 3p25.2 3 11601851C> G null R P 79 79 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,gnomAD rs530851142 3p25.2 3 11601848A> G null I T 80 80 2.0E-4 missense 0.012 benign 0.08 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1309392221 3p25.2 3 11601849T> C null I V 80 80 missense 0.037 benign 0.05 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs775333035 3p25.2 3 11601840G> C null P A 83 83 missense 0.792 possibly damaging 0.51 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1358961871 3p25.2 3 11601839G> A null P L 83 83 missense 0.962 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs775333035 3p25.2 3 11601840G> A null P S 83 83 missense 0.329 benign 0.34 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs767498788 3p25.2 3 11601836T> C null H R 84 84 missense 0.049 benign 0.12 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,TOPMed,gnomAD rs377609465 3p25.3 3 11565017T> C null N S 86 86 missense 0.013 benign 0.9 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs755170828 3p25.3 3 11565012T> C null T A 88 88 missense 0.018 benign 0.23 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs751418145 3p25.3 3 11565009C> A null A S 89 89 missense 0.021 benign 0.32 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs779898891 3p25.3 3 11565000C> T null D N 92 92 missense 0.913 probably damaging 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1008773145 3p25.3 3 11564997A> T null C S 93 93 missense 0.433 benign 0.38 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373201873 3p25.3 3 11564994G> A null R C 94 94 2.0E-4 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 NCI-TCGA,TOPMed,gnomAD rs112232182 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.3 3 11564993C> T null R H 94 94 missense 0.947 probably damaging 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs112232182 3p25.3 3 11564993C> G null R P 94 94 missense 0.077 benign 0.13 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373201873 3p25.3 3 11564994G> T null R S 94 94 2.0E-4 missense 0.628 possibly damaging 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs919278278 3p25.3 3 11564990C> G null R T 95 95 missense 0.185 benign 0.07 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs140884716 3p25.3 3 11564986G> T null D E 96 96 missense 0.03 benign 0.78 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs764681866 3p25.3 3 11564987T> C null D G 96 96 missense 0.03 benign 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1350047045 3p25.3 3 11564988C> G null D H 96 96 missense 0.93 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs763894231 3p25.3 3 11564984G> T null P H 97 97 missense 0.001 benign 0.68 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1341256614 3p25.3 3 11564985G> T null P T 97 97 missense 0.096 benign 0.48 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs573349223 3p25.3 3 11564981C> T null R Q 98 98 5.99E-4 missense 0.847 possibly damaging 0.26 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs774581253 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 3p25.3 3 11564982G> A null R W 98 98 missense 0.969 probably damaging 0.18 tolerated 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1259758354 3p25.3 3 11564978T> G null E A 99 99 missense 0.615 possibly damaging 0.09 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs770255394 3p25.3 3 11564976G> C null R G 100 100 missense 0.655 possibly damaging 0.07 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs748276954 3p25.3 3 11564975C> T null R Q 100 100 missense 0.066 benign 0.11 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs770255394 3p25.3 3 11564976G> A null R W 100 100 missense 0.91 probably damaging 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1172819114 3p25.3 3 11564972C> T null S N 101 101 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs200844511 3p25.3 3 11564970G> A null R C 102 102 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs150453536 3p25.3 3 11564969C> T null R H 102 102 missense 0.988 probably damaging 0.23 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141056077 3p25.3 3 11564959G> C null I M 105 105 3.99E-4 missense 0.936 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs1559860577 3p25.3 3 11564961T> C null I V 105 105 missense 0.045 benign 0.57 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs939528691 3p25.3 3 11564957T> C null E G 106 106 missense 0.073 benign 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs778954240 3p25.3 3 11564955G> A null R C 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs757243456 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 3p25.3 3 11564954C> T null R H 107 107 missense 1.0 probably damaging 0.26 tolerated 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1272768792 3p25.3 3 11564951G> T null A D 108 108 missense 0.945 probably damaging 0.08 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145391722 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.3 3 11564952C> T null A T 108 108 missense 0.261 benign 0.32 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146579499 3p25.3 3 11564948A> G null V A 109 109 0.001997 missense 0.007 benign 0.47 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1259476335 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.3 3 11564946C> T null A T 110 110 missense 0.944 probably damaging 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs752344587 3p25.3 3 11564945G> A null A V 110 110 missense 0.959 probably damaging 0.14 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1325751495 3p25.3 3 11564942G> A null P L 111 111 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs766685780 3p25.3 3 11564943G> A null P S 111 111 missense 0.329 benign 0.38 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs765792252 3p25.3 3 11564935C> T null M I 113 113 missense 0.087 benign 0.53 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs773427159 3p25.3 3 11564936A> C null M R 113 113 missense 0.602 possibly damaging 0.3 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs773427159 3p25.3 3 11564936A> G null M T 113 113 missense 0.012 benign 0.59 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142388866 3p25.3 3 11564937T> C null M V 113 113 0.002196 missense 0.003 benign 1.0 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs141837390 3p25.3 3 11564930A> G null L P 115 115 missense 0.986 probably damaging 0.08 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs141837390 3p25.3 3 11564930A> C null L R 115 115 missense 0.986 probably damaging 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs776699822 3p25.3 3 11564928G> A null H Y 116 116 missense 0.974 probably damaging 0.17 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs747220655 3p25.3 3 11564925C> T null G S 117 117 missense 0.044 benign 0.4 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1475399434 3p25.3 3 11564924C> A null G V 117 117 missense 0.099 benign 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1007714750 3p25.3 3 11564917G> C null H Q 119 119 missense 0.049 benign 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs1461609402 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.3 3 11564919G> A null H Y 119 119 missense 0.034 benign 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1201171706 3p25.3 3 11564916G> C null L V 120 120 missense 0.073 benign 0.16 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs775817849 3p25.3 3 11564913A> G null Y H 121 121 missense 0.936 probably damaging 0.08 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs889298834 3p25.3 3 11564910T> C null T A 122 122 missense 0.003 benign 1.0 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs964703248 3p25.3 3 11564909G> A null T I 122 122 missense 0.211 benign 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs889298834 3p25.3 3 11564910T> G null T P 122 122 missense 0.419 benign 0.13 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1259794868 3p25.3 3 11564904G> A null L F 124 124 missense 0.599 possibly damaging 0.16 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs372191382 3p25.3 3 11564900G> A null P L 125 125 missense 0.662 possibly damaging 0.05 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,TOPMed rs147984254 3p25.3 3 11564896G> C null S R 126 126 missense 0.586 possibly damaging 0.1 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs778844042 3p25.3 3 11564880G> C null P A 132 132 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs552179239 3p25.3 3 11564874C> T null A T 134 134 7.99E-4 missense 0.942 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs868364435 3p25.3 3 11564868T> C null T A 136 136 missense 0.889 possibly damaging 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1388865507 3p25.3 3 11564867G> T null T N 136 136 missense 0.931 probably damaging 0.05 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1332523006 3p25.3 3 11564863C> G null K N 137 137 missense 0.462 possibly damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1332523006 3p25.3 3 11564863C> A null K N 137 137 missense 0.462 possibly damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs1559860111 3p25.3 3 11564861T> C null N S 138 138 missense 0.047 benign 0.18 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1418077599 3p25.3 3 11564855A> G null L P 140 140 missense 0.522 possibly damaging 0.16 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs754575118 3p25.3 3 11564851G> C null D E 141 141 missense 0.358 benign 0.32 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs752119448 3p25.3 3 11564853C> G null D H 141 141 missense 0.987 probably damaging 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs752119448 3p25.3 3 11564853C> T null D N 141 141 missense 0.952 probably damaging 0.11 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs752119448 3p25.3 3 11564853C> A null D Y 141 141 missense 0.991 probably damaging 0.07 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs750870490 3p25.3 3 11564850C> T null A T 142 142 missense 0.026 benign 0.46 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1191793124 3p25.3 3 11564846C> T null S N 143 143 missense 0.005 benign 0.18 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1459295442 3p25.3 3 11564845G> T null S R 143 143 missense 0.243 benign 0.26 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs765522686 3p25.3 3 11564840G> A null P L 145 145 missense 0.287 benign 0.13 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs754296543 3p25.3 3 11564835C> G null G R 147 147 missense 0.989 probably damaging 0.27 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs754296543 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.3 3 11564835C> T null G S 147 147 missense 0.538 possibly damaging 0.48 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs760855469 3p25.3 3 11564831A> C null L R 148 148 missense 0.622 possibly damaging 0.47 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs775415280 3p25.3 3 11564828G> A null S L 149 149 missense 0.013 benign 0.12 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1231413029 3p25.3 3 11564819A> G null L P 152 152 missense 0.105 benign 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1378729535 3p25.3 3 11564816G> A null T I 153 153 missense 0.192 benign 0.1 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs759608846 3p25.3 3 11564813G> A null P L 154 154 missense 0.559 possibly damaging 0.08 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs759608846 3p25.3 3 11564813G> T null P Q 154 154 missense 0.25 benign 0.05 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs989862470 3p25.3 3 11564804C> T null R Q 157 157 missense 0.111 benign 0.16 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs770798622 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.3 3 11564805G> A null R W 157 157 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs372114729 3p25.3 3 11559430G> A null A V 168 168 missense 0.637 possibly damaging 0.22 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs369969148 3p25.3 3 11559427G> A null S L 169 169 missense 0.726 possibly damaging 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1187039913 3p25.3 3 11559421C> G null G A 171 171 missense 0.023 benign 0.15 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1247884660 3p25.3 3 11559419C> T null A T 172 172 missense 0.007 benign 0.29 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs866158596 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 3p25.3 3 11559416G> A null R C 173 173 missense 0.979 probably damaging 0.0 deleterious 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs566280584 3p25.3 3 11559415C> T null R H 173 173 2.0E-4 missense 0.233 benign 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs566280584 3p25.3 3 11559415C> A null R L 173 173 2.0E-4 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs566280584 3p25.3 3 11559415C> G null R P 173 173 2.0E-4 missense 0.976 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs866158596 3p25.3 3 11559416G> T null R S 173 173 missense 0.91 probably damaging 0.05 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1220825139 3p25.3 3 11559413T> C null N D 174 174 missense 0.557 possibly damaging 0.09 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs748637911 3p25.3 3 11559411G> C null N K 174 174 missense 0.557 possibly damaging 0.13 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1308664059 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.3 3 11559409C> T null C Y 175 175 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1028637875 3p25.3 3 11559406T> G null N T 176 176 missense 0.46 possibly damaging 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1369837846 3p25.3 3 11559404G> A null L F 177 177 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs755052545 3p25.3 3 11559400G> A null S L 178 178 missense 0.845 possibly damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs766766195 3p25.3 3 11559396G> C null H Q 179 179 missense 0.747 possibly damaging 0.12 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1392519468 3p25.3 3 11559397T> C null H R 179 179 missense 0.062 benign 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs867219033 3p25.3 3 11559394C> A null C F 180 180 missense 0.921 probably damaging 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200044987 3p25.3 3 11559386C> A null A S 183 183 3.99E-4 missense 0.613 possibly damaging 0.82 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200044987 3p25.3 3 11559386C> T null A T 183 183 3.99E-4 missense 0.044 benign 0.22 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs928517313 3p25.3 3 11559385G> A null A V 183 183 missense 0.026 benign 0.19 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1467789633 3p25.3 3 11559377C> T null G S 186 186 missense 0.178 benign 0.34 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1250742612 3p25.3 3 11559373C> A null C F 187 187 missense 0.476 possibly damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs75243477 3p25.3 3 11559372A> C null C W 187 187 missense 0.046 benign 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1250742612 3p25.3 3 11559373C> T null C Y 187 187 missense 0.577 possibly damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1197997442 3p25.3 3 11559370G> A null A V 188 188 missense 0.001 benign 0.47 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs776396237 3p25.3 3 11559368C> T null A T 189 189 missense 0.007 benign 0.34 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs768610184 3p25.3 3 11559367G> A null A V 189 189 missense 0.157 benign 0.28 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs771714714 3p25.3 3 11559362C> T null G R 191 191 missense 0.395 benign 0.35 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs745461820 3p25.3 3 11559355G> C null A G 193 193 missense 0.012 benign 0.39 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs550826126 3p25.3 3 11559346C> A null R L 196 196 2.0E-4 missense 0.428 benign 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs550826126 3p25.3 3 11559346C> T null R Q 196 196 2.0E-4 missense 0.856 possibly damaging 0.17 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs986688119 3p25.3 3 11559347G> A null R W 196 196 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1460439379 3p25.3 3 11559344T> C null R G 197 197 missense 0.637 possibly damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1467909803 3p25.3 3 11559343C> T null R K 197 197 missense 0.452 possibly damaging 0.12 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs756392330 3p25.3 3 11559340G> T null P Q 198 198 missense 0.602 possibly damaging 0.09 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1030530281 3p25.3 3 11559341G> T null P T 198 198 missense 0.012 benign 0.43 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs748513541 3p25.3 3 11559337G> A null P L 199 199 missense 0.021 benign 0.36 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs1559851222 3p25.3 3 11559335T> G null S R 200 200 missense 0.71 possibly damaging 0.13 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1250299325 3p25.3 3 11559332C> T null A T 201 201 missense 0.003 benign 0.67 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1383879886 3p25.3 3 11558824G> A null A V 202 202 missense 0.096 benign 0.23 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1156455648 3p25.3 3 11558822T> C null T A 203 203 missense 0.003 benign 0.26 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs908995734 3p25.3 3 11558821G> A null T I 203 203 missense 0.444 benign 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1385753534 3p25.3 3 11558818G> A null T I 204 204 missense 0.444 benign 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1409673798 3p25.3 3 11558816A> G null C R 205 205 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs746300153 3p25.3 3 11558789G> A null R C 214 214 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs758515127 3p25.3 3 11558788C> T null R H 214 214 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1407550217 3p25.3 3 11558786T> C null R G 215 215 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1215813705 3p25.3 3 11558776C> G null G A 218 218 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1215813705 3p25.3 3 11558776C> T null G D 218 218 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs757493212 3p25.3 3 11558764T> C null K R 222 222 missense 0.786 possibly damaging 0.09 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1232437715 3p25.3 3 11558760C> G null E D 223 223 missense 0.984 probably damaging 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1354236243 3p25.3 3 11558759G> A null P S 224 224 missense 0.099 benign 0.14 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs763815966 3p25.3 3 11558756C> T null E K 225 225 missense 0.993 probably damaging 0.07 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs371428293 3p25.3 3 11558752G> A null P L 226 226 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1205653385 3p25.3 3 11558750C> T null A T 227 227 missense 0.615 possibly damaging 0.15 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1034242183 3p25.3 3 11558747G> A null P S 228 228 missense 0.138 benign 1.0 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1325721354 3p25.3 3 11558743T> C null N S 229 229 missense 0.042 benign 0.11 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs759096080 3p25.3 3 11558740G> A null S F 230 230 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs147755206 cosmic curated [Cosmic]: lung cosmic_study:417 3p25.3 3 11558738C> A null V L 231 231 missense 0.919 probably damaging 0.15 tolerated 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147755206 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 3p25.3 3 11558738C> G null V L 231 231 missense 0.919 probably damaging 0.15 tolerated 1 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ESP,ExAC,TOPMed,gnomAD rs147755206 3p25.3 3 11558738C> T null V M 231 231 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1473501373 3p25.3 3 11558732T> C null I V 233 233 missense 0.992 probably damaging 0.12 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC rs769095621 3p25.3 3 11558728G> A null T M 234 234 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1195550152 3p25.3 3 11558719A> G null V A 237 237 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1372834410 3p25.3 3 11558705C> T null A T 242 242 missense 0.422 benign 0.06 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1009501649 3p25.3 3 11558689T> C null D G 247 247 missense 0.99 probably damaging 0.07 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs765140042 3p25.3 3 11558686G> T null T K 248 248 missense 1.0 probably damaging 0.31 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs765140042 3p25.3 3 11558686G> A null T M 248 248 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 Ensembl rs868751924 3p25.3 3 11558676C> A null Q H 251 251 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1247162938 3p25.3 3 11558677T> A null Q L 251 251 missense 0.985 probably damaging 0.04 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs777574394 3p25.3 3 11558668G> A null A V 254 254 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC rs752466113 3p25.3 3 11558662T> G null K T 256 256 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs759514138 3p25.3 3 11558657C> A null G * 258 258 stop gained 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ExAC,gnomAD rs531116584 3p25.3 3 11558656C> T null G E 258 258 2.0E-4 missense 0.351 benign 0.05 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs759514138 3p25.3 3 11558657C> T null G R 258 258 missense 0.931 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs765860021 3p25.3 3 11558651A> C null S A 260 260 missense 0.018 benign 0.12 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs765860021 3p25.3 3 11558651A> G null S P 260 260 missense 0.044 benign 0.16 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1329919468 3p25.3 3 11558647C> A null S I 261 261 missense 0.937 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1329919468 3p25.3 3 11558647C> T null S N 261 261 missense 0.073 benign 0.14 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs762537180 3p25.3 3 11558639C> T null E K 264 264 missense 0.999 probably damaging 0.09 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs769543042 3p25.3 3 11558633C> T null A T 266 266 missense 0.999 probably damaging 0.11 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1394490112 3p25.3 3 11558629G> C null S C 267 267 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed,gnomAD rs1394490112 3p25.3 3 11558629G> T null S Y 267 267 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377034464 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.3 3 11558627G> A null R C 268 268 0.003195 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs772707995 3p25.3 3 11558626C> T null R H 268 268 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377034464 3p25.3 3 11558627G> T null R S 268 268 0.003195 missense 0.999 probably damaging 0.27 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs746324268 3p25.3 3 11558624T> C null R G 269 269 missense 0.999 probably damaging 0.05 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1182226839 3p25.3 3 11558622C> G null R S 269 269 missense 0.999 probably damaging 0.27 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1437223616 3p25.3 3 11558621C> T null G S 270 270 missense 1.0 probably damaging 0.31 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1347991318 3p25.3 3 11558616C> A null Q H 271 271 missense 0.967 probably damaging 0.05 deleterious 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs778879842 3p25.3 3 11558617T> G null Q P 271 271 missense 0.97 probably damaging 0.27 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs778879842 3p25.3 3 11558617T> C null Q R 271 271 missense 0.105 benign 0.28 tolerated 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1403587976 3p25.3 3 11558614G> A null P L 272 272 missense 0.059 benign 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs771000362 3p25.3 3 11558612C> T null A T 273 273 missense 0.0 benign 0.14 tolerated - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1280558769 3p25.3 3 11558605G> T null P H 275 275 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs749295296 3p25.3 3 11558606G> A null P S 275 275 missense 0.422 benign 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs778016957 3p25.3 3 11558600C> T null A T 277 277 missense 0.015 benign 0.42 tolerated - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 TOPMed rs1316791940 3p25.3 3 11558597G> A null H Y 278 278 missense 0.791 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs756315421 3p25.3 3 11558594T> C null M V 279 279 missense 0.961 probably damaging 0.03 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,gnomAD rs748002932 3p25.3 3 11558590A> C null V G 280 280 missense 0.019 benign 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1435825968 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p25.3 3 11558591C> T null V I 280 280 missense 0.011 benign 0.07 tolerated - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1402707426 3p25.3 3 11558587C> T null S N 281 281 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1190008776 3p25.3 3 11558576A> T null S T 285 285 missense 0.991 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1485935279 3p25.3 3 11558572G> T null P H 286 286 missense 0.961 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1485935279 3p25.3 3 11558572G> A null P L 286 286 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 gnomAD rs1485935279 3p25.3 3 11558572G> C null P R 286 286 missense 0.9 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs765840820 3p25.3 3 11558570A> C null S A 287 287 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E4 VGLL4 Transcription cofactor vestigial-like protein 4 ExAC,TOPMed,gnomAD rs765840820 3p25.3 3 11558570A> G null S P 287 287 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,TOPMed,gnomAD rs754433413 1q42.12 1 225567408C> A null Q H 4 4 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs753462445 1q42.12 1 225567380T> C null M V 14 14 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) Ensembl rs201973976 1q42.12 1 225567368C> T null D N 18 18 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs149009967 1q42.12 1 225567361T> C null N S 20 20 missense 0.677 possibly damaging 0.49 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1386262906 1q42.12 1 225567358T> C null K R 21 21 missense 0.14 benign 0.03 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1464808232 1q42.12 1 225567350C> T null V M 24 24 missense 0.83 possibly damaging 0.03 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs750285665 1q42.12 1 225567341C> G null G R 27 27 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ESP,TOPMed,gnomAD rs370799885 1q42.12 1 225567340C> A null G V 27 27 missense 0.869 possibly damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1261190691 1q42.12 1 225567335A> G null S P 29 29 missense 0.978 probably damaging 0.48 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,TOPMed,gnomAD rs781581587 1q42.12 1 225567332T> C null T A 30 30 missense 0.023 benign 0.11 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs761885803 1q42.12 1 225567321G> C null S R 33 33 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs774413665 1q42.12 1 225567319C> T null R K 34 34 missense 0.237 benign 0.2 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,TOPMed,gnomAD rs764294914 1q42.12 1 225567311T> C null I V 37 37 missense 0.259 benign 0.01 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) Ensembl rs1558828210 1q42.12 1 225567307T> C null Y C 38 38 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) TOPMed,gnomAD rs1256353083 1q42.12 1 225567301T> C null H R 40 40 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) TOPMed,gnomAD rs1366032685 1q42.12 1 225567256T> A null D V 55 55 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) TOPMed,gnomAD rs1279574660 1q42.12 1 225567254G> A null H Y 56 56 missense 0.887 possibly damaging 0.01 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) Ensembl rs867704800 1q42.12 1 225555055C> A null G V 67 67 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs765228195 1q42.12 1 225555035T> C null T A 74 74 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs759850828 1q42.12 1 225555029T> A null T S 76 76 missense 0.897 possibly damaging 0.06 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) TOPMed rs1300500132 1q42.12 1 225555010T> C null D G 82 82 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,TOPMed,gnomAD rs771314177 1q42.12 1 225554971T> C null E G 95 95 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs141332414 1q42.12 1 225554962T> C null N S 98 98 missense 0.042 benign 0.26 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1480518959 1q42.12 1 225554954C> A null A S 101 101 missense 0.792 possibly damaging 0.28 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs369760901 1q42.12 1 225554945T> C null M V 104 104 missense 0.62 possibly damaging 0.01 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs748594234 1q42.12 1 225554920T> A null N I 112 112 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) TOPMed rs1359567974 1q42.12 1 225535558T> C null S G 119 119 missense 0.035 benign 0.37 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1352105547 1q42.12 1 225535555T> C null K E 120 120 missense 0.007 benign 0.68 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs752546787 1q42.12 1 225535542G> A null T I 124 124 missense 0.014 benign 0.2 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs752546787 1q42.12 1 225535542G> T null T N 124 124 missense 0.041 benign 0.17 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,TOPMed,gnomAD rs765380041 1q42.12 1 225535531T> C null T A 128 128 missense 0.0 benign 0.81 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1273232869 1q42.12 1 225535528T> C null N D 129 129 missense 0.08 benign 0.23 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1301700589 1q42.12 1 225535521C> T null R Q 131 131 missense 0.081 benign 0.61 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1438872492 1q42.12 1 225535518C> A null C F 132 132 missense 0.516 possibly damaging 0.68 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) 1000Genomes rs566169309 1q42.12 1 225535515A> T null I N 133 133 2.0E-4 missense 0.293 benign 0.11 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) TOPMed rs1301037199 1q42.12 1 225535507C> T null G R 136 136 missense 0.361 benign 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs762434272 1q42.12 1 225530638C> A null G V 136 136 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1324503098 1q42.12 1 225530633T> C null T A 138 138 missense 0.742 possibly damaging 0.16 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) 1000Genomes,ExAC,gnomAD rs530644071 1q42.12 1 225530626G> A null P L 140 140 2.0E-4 missense 0.058 benign 0.02 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1364011018 1q42.12 1 225530612G> T null Q K 145 145 missense 0.725 possibly damaging 0.13 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) 1000Genomes,ExAC,gnomAD rs563482071 1q42.12 1 225530608A> G null L P 146 146 2.0E-4 missense 0.984 probably damaging 0.13 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1335900178 1q42.12 1 225530605G> A null P L 147 147 missense 0.577 possibly damaging 0.0 deleterious 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1422405670 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 1q42.12 1 225530576C> T null E K 157 157 missense 0.991 probably damaging 0.0 deleterious 1 A0A075B6E5 ENAH Protein enabled homolog (Fragment) TOPMed,gnomAD rs1167930835 1q42.12 1 225530570A> C null L V 159 159 missense 0.117 benign 0.12 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) Ensembl rs1235421429 1q42.12 1 225530557C> T null R K 163 163 missense 0.979 probably damaging 0.23 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) 1000Genomes,ExAC,gnomAD rs538781531 1q42.12 1 225519564G> T null Q K 165 165 2.0E-4 missense 0.968 probably damaging 0.07 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1375951146 1q42.12 1 225519558G> T null Q K 167 167 missense 0.968 probably damaging 0.23 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) Ensembl rs749462415 1q42.12 1 225519555C> A null E * 168 168 stop gained 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1392812729 1q42.12 1 225519552G> T null Q K 169 169 missense 0.392 benign 0.53 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1373559875 1q42.12 1 225519549G> A null Q * 170 170 stop gained 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs766016374 1q42.12 1 225519545C> T null R Q 171 171 missense 0.986 probably damaging 0.27 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,TOPMed,gnomAD rs554977125 1q42.12 1 225519546G> A null R W 171 171 missense 0.996 probably damaging 0.08 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201023360 1q42.12 1 225519534G> T null L M 175 175 3.99E-4 missense 0.013 benign 0.33 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs747828346 1q42.12 1 225519527C> T null R Q 177 177 missense 0.072 benign 0.16 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs535035689 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q42.12 1 225519528G> A null R W 177 177 missense 0.971 probably damaging 0.0 deleterious 1 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1251438802 1q42.12 1 225519521C> T null R K 179 179 missense 0.164 benign 0.26 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ESP,ExAC,gnomAD rs374239222 1q42.12 1 225519520C> G null R S 179 179 missense 0.015 benign 0.33 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ESP,ExAC,gnomAD rs374239222 1q42.12 1 225519520C> A null R S 179 179 missense 0.015 benign 0.33 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs749242764 1q42.12 1 225519518A> C null L R 180 180 missense 0.354 benign 0.3 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) TOPMed rs1483307865 1q42.12 1 225519514C> G null E D 181 181 missense 0.006 benign 0.28 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) Ensembl rs1373619961 1q42.12 1 225519515T> C null E G 181 181 missense 0.168 benign 0.06 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1271123645 1q42.12 1 225519516C> G null E Q 181 181 missense 0.282 benign 0.17 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ESP,ExAC,gnomAD rs373605992 1q42.12 1 225519512C> T null R Q 182 182 missense 0.986 probably damaging 0.1 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1352857627 1q42.12 1 225519509T> C null E G 183 183 missense 0.526 possibly damaging 0.26 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,TOPMed,gnomAD rs769869260 1q42.12 1 225519506C> T null R K 184 184 missense 0.969 probably damaging 0.21 tolerated 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC rs745882212 1q42.12 1 225519504T> G null M L 185 185 missense 0.0 benign 0.74 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs781322272 1q42.12 1 225519503A> G null M T 185 185 missense 0.015 benign 0.5 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC rs745882212 1q42.12 1 225519504T> C null M V 185 185 missense 0.0 benign 0.55 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs757488605 1q42.12 1 225519495C> T null E K 188 188 missense 0.987 probably damaging 0.45 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,TOPMed,gnomAD rs778050234 1q42.12 1 225519482C> G null R T 192 192 missense 0.99 probably damaging 0.08 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs758788159 1q42.12 1 225519479T> C null E G 193 193 missense 0.994 probably damaging 0.31 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1455605317 1q42.12 1 225519468T> C null R G 197 197 missense 0.157 benign 0.18 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs765780405 1q42.12 1 225519461C> T null R K 199 199 missense 0.015 benign 0.16 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs556392778 1q42.12 1 225519446C> T null R Q 204 204 2.0E-4 missense 0.979 probably damaging 0.1 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs1206680815 1q42.12 1 225519443A> C null L R 205 205 missense 0.267 benign 0.01 deleterious - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) gnomAD rs370782388 1q42.12 1 225519438G> T null Q K 207 207 missense 0.001 benign 0.71 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) TOPMed rs1400319122 1q42.12 1 225519430C> G null Q H 209 209 missense 0.003 benign 0.08 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,gnomAD rs767019161 1q42.12 1 225519431T> C null Q R 209 209 missense 0.0 benign 0.35 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC,TOPMed,gnomAD rs761419042 1q42.12 1 225519426C> T null E K 211 211 missense 0.415 benign 0.18 tolerated - low confidence 0 A0A075B6E5 ENAH Protein enabled homolog (Fragment) ExAC rs774003069 1q42.12 1 225519419T> C null E G 213 213 missense 0.148 benign 0.0 deleterious - low confidence 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,TOPMed,gnomAD rs547244063 12q15 12 69935964T> A null F L 3 3 9.98E-4 missense 0.207 benign 0.81 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs779293480 12q15 12 69936114G> T null A S 5 5 missense 0.925 probably damaging 0.01 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs750939956 12q15 12 69936115C> T null A V 5 5 missense 0.101 benign 0.11 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1446531100 12q15 12 69936119G> C null L F 6 6 missense 0.222 benign 0.03 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1446531100 12q15 12 69936119G> T null L F 6 6 missense 0.222 benign 0.03 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs543632642 12q15 12 69936121C> A null T K 7 7 2.0E-4 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs543632642 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q15 12 69936121C> T null T M 7 7 2.0E-4 missense 0.222 benign 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs543632642 12q15 12 69936121C> G null T R 7 7 2.0E-4 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1479325483 12q15 12 69936133T> C null L P 11 11 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1250025792 12q15 12 69936138A> G null I V 13 13 missense 0.169 benign 0.33 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1480116988 12q15 12 69936144_69936145insCTT A null S T 15 15 stop gained 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1458531756 12q15 12 69936154A> C null D A 18 18 missense 0.251 benign 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1156464656 12q15 12 69936157A> C null Q P 19 19 missense 0.043 benign 0.14 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1314992088 12q15 12 69936161C> A null D E 20 20 missense 0.007 benign 0.13 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1383570040 12q15 12 69936159G> C null D H 20 20 missense 0.569 possibly damaging 0.11 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs953503322 12q15 12 69936162C> T null R * 21 21 stop gained 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs953503322 12q15 12 69936162C> G null R G 21 21 missense 0.611 possibly damaging 0.07 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1324723612 12q15 12 69936163G> A null R Q 21 21 missense 0.031 benign 0.29 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs747841093 12q15 12 69936165C> T null R C 22 22 missense 0.009 benign 0.2 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1403486990 12q15 12 69936166G> A null R H 22 22 missense 0.001 benign 0.5 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1283089522 12q15 12 69936168G> A null V I 23 23 missense 0.003 benign 0.43 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1425093036 12q15 12 69936180C> T null P S 27 27 missense 0.121 benign 0.27 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs991159320 12q15 12 69936183C> G null P A 28 28 missense 0.012 benign 0.64 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs61754225 12q15 12 69936283C> G null S R 29 29 0.03075 missense 0.062 benign 0.1 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes rs573916063 12q15 12 69936286T> G null N K 30 30 2.0E-4 missense 0.987 probably damaging 0.08 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs748749211 12q15 12 69936289C> G null I M 31 31 missense 0.015 benign 0.11 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs1566038423 12q15 12 69936291C> G null T R 32 32 missense 0.982 probably damaging 0.05 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs550088116 12q15 12 69936293A> G null S G 33 33 missense 0.024 benign 0.11 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1457961072 12q15 12 69936300A> C null Q P 35 35 missense 0.003 benign 0.23 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1238465524 12q15 12 69936306C> T null P L 37 37 missense 0.026 benign 0.34 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs774212271 12q15 12 69936311C> G null L V 39 39 missense 0.059 benign 0.1 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1351414089 12q15 12 69936318C> T null P L 41 41 missense 0.011 benign 0.13 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1393513527 12q15 12 69936320A> G null T A 42 42 missense 0.018 benign 0.17 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1364806661 12q15 12 69936324C> A null A D 43 43 missense 0.067 benign 0.06 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs908308766 12q15 12 69936323G> C null A P 43 43 missense 0.786 possibly damaging 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs908308766 12q15 12 69936323G> T null A S 43 43 missense 0.053 benign 0.1 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs777408386 12q15 12 69936327C> A null S Y 44 44 missense 0.642 possibly damaging 0.11 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs780487041 12q15 12 69936456C> A null P H 48 48 missense 0.967 probably damaging 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs780487041 12q15 12 69936456C> T null P L 48 48 missense 0.162 benign 0.25 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs953452312 12q15 12 69936458A> G null N D 49 49 missense 0.005 benign 0.44 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1483468459 12q15 12 69936464T> A null S T 51 51 missense 0.06 benign 0.14 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1240896656 12q15 12 69936468T> G null L R 52 52 missense 0.517 possibly damaging 0.3 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs777466162 12q15 12 69936470G> T null V L 53 53 missense 0.005 benign 0.07 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1430855401 12q15 12 69936479C> G null P A 56 56 missense 0.015 benign 0.09 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs61754226 12q15 12 69936480C> T null P L 56 56 0.002596 missense 0.005 benign 0.07 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1338882515 12q15 12 69936491C> A null Q K 60 60 missense 0.005 benign 0.24 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs928897728 12q15 12 69936494G> A null V I 61 61 missense 0.03 benign 1.0 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1216487463 12q15 12 69936498C> A null P H 62 62 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs778455296 12q15 12 69936497C> T null P S 62 62 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs200435330 12q15 12 69936501A> T null E V 63 63 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs1566038756 12q15 12 69936506A> G null T A 65 65 missense 0.358 benign 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1269370559 12q15 12 69936509T> G null F V 66 66 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1428616900 12q15 12 69936513G> A null C Y 67 67 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs971003797 12q15 12 69936517A> C null E D 68 68 missense 0.036 benign 1.0 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs745328875 12q15 12 69936519T> C null I T 69 69 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs947554314 12q15 12 69936525C> T null P L 71 71 missense 0.933 probably damaging 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1225175491 12q15 12 69936530C> G null Q E 73 73 missense 0.012 benign 0.37 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs760217887 12q15 12 69936539T> C null Y H 76 76 missense 0.105 benign 0.09 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1208785859 12q15 12 69936542T> A null C S 77 77 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs973863503 12q15 12 69936553C> G null I M 80 80 missense 0.745 possibly damaging 0.04 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1428131089 12q15 12 69936552T> C null I T 80 80 missense 0.457 possibly damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs765678851 12q15 12 69936555G> A null R Q 81 81 missense 0.0 benign 0.51 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs934306771 12q15 12 69936554C> T null R W 81 81 missense 0.0 benign 0.31 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes rs189536396 12q15 12 69936558G> A null G E 82 82 2.0E-4 missense 0.018 benign 0.72 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs138671705 12q15 12 69936568A> C null E D 85 85 0.001198 missense 0.039 benign 0.24 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1261654260 12q15 12 69936570T> C null V A 86 86 missense 0.003 benign 0.7 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs61753523 12q15 12 69936573C> T null S F 87 87 missense 0.0 benign 0.7 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs35051828 12q15 12 69936576C> T null S L 88 88 0.03075 missense 0.059 benign 0.69 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs932591671 12q15 12 69936578A> T null S C 89 89 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1433543784 12q15 12 69936587C> G null Q E 92 92 missense 0.037 benign 0.37 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1469530666 12q15 12 69936596T> G null S A 95 95 missense 0.007 benign 0.76 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs763580394 12q15 12 69936597C> T null S F 95 95 missense 0.013 benign 0.06 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs763580394 12q15 12 69936597C> A null S Y 95 95 missense 0.06 benign 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1428729840 12q15 12 69936606A> T null K M 98 98 missense 0.054 benign 0.05 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1288201795 12q15 12 69936608G> A null E K 99 99 missense 0.02 benign 0.29 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1288201795 12q15 12 69936608G> C null E Q 99 99 missense 0.049 benign 0.19 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1360731711 12q15 12 69936615A> G null H R 101 101 missense 0.005 benign 0.43 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1386986183 12q15 12 69936617C> G null Q E 102 102 missense 0.011 benign 0.35 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1346145258 12q15 12 69936621G> A null R K 103 103 missense 0.007 benign 0.31 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs180790706 [NCI-TCGA]: Variant assessed as Somatic; impact. 12q15 12 69936623C> T null R * 104 104 2.0E-4 stop gained 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs184470223 12q15 12 69936624G> T null R L 104 104 missense 0.0 benign 0.31 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs184470223 12q15 12 69936624G> C null R P 104 104 missense 0.0 benign 0.51 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs184470223 12q15 12 69936624G> A null R Q 104 104 missense 0.0 benign 0.77 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1485547897 12q15 12 69952116A> T null D V 108 108 missense 0.481 possibly damaging 0.21 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1280911381 12q15 12 69952123C> G null S R 110 110 missense 0.012 benign 0.53 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs745396891 12q15 12 69952130G> A null V I 113 113 missense 0.0 benign 0.38 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1291936956 12q15 12 69952134T> G null L W 114 114 missense 0.944 probably damaging 0.08 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs757917591 12q15 12 69952136G> T null A S 115 115 missense 0.087 benign 0.46 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs11177991 12q15 12 69952145G> T null A S 118 118 0.003994 missense 0.034 benign 0.56 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs11177991 12q15 12 69952145G> A null A T 118 118 0.003994 missense 0.034 benign 0.51 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1290225618 12q15 12 69952148C> T null L F 119 119 missense 0.029 benign 0.26 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1205743307 12q15 12 69952152G> T null S I 120 120 missense 0.003 benign 0.34 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,TOPMed,gnomAD rs140111570 12q15 12 69952154G> T null G C 121 121 3.99E-4 missense 0.508 possibly damaging 0.06 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs945999164 12q15 12 69952155G> A null G D 121 121 missense 0.001 benign 0.58 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,TOPMed,gnomAD rs140111570 12q15 12 69952154G> A null G S 121 121 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1199107931 12q15 12 69952158C> G null P R 122 122 missense 0.047 benign 0.27 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs768623428 12q15 12 69952157C> T null P S 122 122 missense 0.02 benign 0.35 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs776460434 12q15 12 69952162C> G null D E 123 123 missense 0.027 benign 0.06 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1446523084 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 12q15 12 69952165G> A null W * 124 124 stop gained 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1374919615 12q15 12 69952171T> G null S R 126 126 missense 0.747 possibly damaging 0.05 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1384502625 12q15 12 69952799G> A null W * 128 128 stop gained 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1253271587 12q15 12 69952804G> C null D H 130 130 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1409164961 12q15 12 69952813A> G null I V 133 133 missense 0.733 possibly damaging 0.12 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,gnomAD rs572940419 12q15 12 69952817G> A null S N 134 134 2.0E-4 missense 0.837 possibly damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1355938268 12q15 12 69952820C> G null S C 135 135 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1407922995 12q15 12 69952819T> A null S T 135 135 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1412323960 12q15 12 69952826A> G null Q R 137 137 missense 0.222 benign 0.04 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1375133332 12q15 12 69952828A> G null I V 138 138 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs865892053 12q15 12 69952833G> A null M I 139 139 missense 0.043 benign 0.08 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs995220177 12q15 12 69952838T> C null I T 141 141 missense 0.073 benign 1.0 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1462874456 12q15 12 69952841A> G null Q R 142 142 missense 0.299 benign 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1326525904 12q15 12 69952847T> C null I T 144 144 missense 0.02 benign 0.37 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1168905582 12q15 12 69952854T> A null D E 146 146 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes rs540428184 12q15 12 69952855C> A null H N 147 147 2.0E-4 missense 0.06 benign 0.62 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs111545047 12q15 12 69952858C> T null Q * 148 148 stop gained 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1272434758 12q15 12 69952859A> G null Q R 148 148 missense 0.0 benign 1.0 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1337789843 12q15 12 69952861T> C null Y H 149 149 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs940820536 12q15 12 69952865G> C null C S 150 150 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1218471353 12q15 12 69952868T> C null I T 151 151 missense 0.0 benign 0.01 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs753127626 12q15 12 69952874G> A null S N 153 153 missense 0.059 benign 0.76 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1325976434 12q15 12 69952876C> T null L F 154 154 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs564986498 12q15 12 69952884C> G null C W 156 156 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1419152441 12q15 12 69952883G> A null C Y 156 156 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs267603650 12q15 12 69952885G> C null G R 157 157 missense 0.216 benign 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs267603650 12q15 12 69952885G> A null G S 157 157 missense 0.32 benign 0.06 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1327103202 12q15 12 69957824C> A null T K 158 158 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1327103202 12q15 12 69957824C> G null T R 158 158 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1246877218 12q15 12 69957826A> G null T A 159 159 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1317069209 12q15 12 69957827C> T null T I 159 159 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1243765249 12q15 12 69957847C> T null Q * 166 166 stop gained 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs950871446 12q15 12 69957850T> C null C R 167 167 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs992926446 12q15 12 69957853A> G null K E 168 168 missense 0.093 benign 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1481511558 12q15 12 69957855A> C null K N 168 168 missense 0.093 benign 0.01 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs924900226 12q15 12 69957854A> G null K R 168 168 missense 0.093 benign 0.04 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs554272350 12q15 12 69957858C> G null F L 169 169 3.99E-4 missense 0.011 benign 0.25 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1221851041 12q15 12 69957857T> C null F S 169 169 missense 0.036 benign 0.1 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs761171096 12q15 12 69957862C> A null L I 171 171 missense 0.428 benign 0.08 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs138964588 12q15 12 69957872T> C null I T 174 174 9.98E-4 missense 0.373 benign 0.14 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs990538042 12q15 12 69957876T> A null C * 175 175 stop gained 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,TOPMed,gnomAD rs187862284 12q15 12 69957881A> G null H R 177 177 2.0E-4 missense 0.007 benign 0.23 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs866076106 12q15 12 69957893G> A null G E 181 181 missense 0.0 benign 1.0 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1164727039 12q15 12 69957901G> C null G R 184 184 missense 0.16 benign 0.14 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs969795589 12q15 12 69957902G> T null G V 184 184 missense 0.169 benign 0.08 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs10879065 pubmed:14702039,pubmed:15489334 12q15 12 69957904C> A null L M 185 185 0.3237 missense 0.003 benign 0.66 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs925636077 12q15 12 69957905T> A null L Q 185 185 missense 0.21 benign 0.5 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs762666002 12q15 12 69957914A> G null H R 188 188 missense 0.003 benign 0.54 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1168697048 12q15 12 69957920A> G null E G 190 190 missense 0.069 benign 0.03 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1263376841 12q15 12 69957926C> T null S F 192 192 missense 0.067 benign 0.85 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein Ensembl rs868232453 12q15 12 69957931G> A null E K 194 194 missense 0.535 possibly damaging 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs949225292 12q15 12 69957938C> T null T I 196 196 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1047598270 12q15 12 69957940C> T null Q * 197 197 stop gained 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs749667149 12q15 12 69957941A> G null Q R 197 197 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs755982776 12q15 12 69958266G> A null W * 203 203 stop gained 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs1311087235 12q15 12 69958269C> A null S R 204 204 missense 0.018 benign 0.09 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,gnomAD rs777398058 12q15 12 69958273C> T null P S 206 206 missense 0.773 possibly damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1270877505 12q15 12 69958277T> C null V A 207 207 missense 0.422 benign 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1487165059 12q15 12 69958276G> A null V I 207 207 missense 0.422 benign 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs749041045 12q15 12 69958289C> T null S F 211 211 missense 0.012 benign 0.54 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs544926408 12q15 12 69958288T> C null S P 211 211 missense 0.847 possibly damaging 0.01 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs765090192 12q15 12 69958299G> A null M I 214 214 missense 0.003 benign 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs564594009 12q15 12 69958297A> G null M V 214 214 missense 0.0 benign 0.1 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1413973994 12q15 12 69958303C> T null H Y 216 216 missense 0.991 probably damaging 0.31 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1346873821 12q15 12 69958309C> T null R C 218 218 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs895441132 12q15 12 69958310G> A null R H 218 218 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs771164817 12q15 12 69958322C> T null P L 222 222 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs199741380 12q15 12 69958451G> A null A T 225 225 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,TOPMed,gnomAD rs535892442 12q15 12 69958458G> A null C Y 227 227 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1047682687 12q15 12 69958463A> T null T S 229 229 missense 0.775 possibly damaging 0.06 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1205408126 12q15 12 69958466G> T null D Y 230 230 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs754427351 12q15 12 69958481G> C null G R 235 235 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1456495722 12q15 12 69958488T> C null F S 237 237 missense 0.729 possibly damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs1392559070 12q15 12 69958491T> A null F Y 238 238 missense 0.519 possibly damaging 0.03 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1178146361 12q15 12 69958494C> T null T I 239 239 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs886451774 12q15 12 69958496G> A null D N 240 240 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs1172073449 12q15 12 69958515A> G null Y C 246 246 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein ExAC,TOPMed,gnomAD rs766146896 12q15 12 69958517C> T null R * 247 247 stop gained 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs931864355 12q15 12 69958518G> T null R L 247 247 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs931864355 [NCI-TCGA]: Variant assessed as Somatic; impact. 12q15 12 69958518G> A null R Q 247 247 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed,gnomAD rs987349721 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q15 12 69958520C> T null R C 248 248 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,NCI-TCGA,TOPMed,gnomAD rs540008044 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q15 12 69958521G> A null R H 248 248 3.99E-4 missense 0.043 benign 0.56 tolerated 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein 1000Genomes,TOPMed,gnomAD rs540008044 12q15 12 69958521G> C null R P 248 248 3.99E-4 missense 0.936 probably damaging 0.02 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein gnomAD rs912541183 12q15 12 69958523T> C null C R 249 249 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E6 MYRFL Myelin regulatory factor-like protein TOPMed rs944049686 12q15 12 69958524G> A null C Y 249 249 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs746453993 1p31.1 1 69760200T> C null L P 4 4 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs955748785 1p31.1 1 69760206T> G null M R 6 6 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs545752928 1p31.1 1 69760209C> A null T N 7 7 0.001398 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs747077838 1p31.1 1 69760218G> A null R Q 10 10 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,gnomAD rs150507629 cosmic curated [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: lung pubmed:23525077,cosmic_study:418,cosmic_study:464 1p31.1 1 69760217C> T null R W 10 10 missense 0.995 probably damaging 0.0 deleterious 1 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1158759785 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 69760229G> A null G S 14 14 missense 0.997 probably damaging 0.49 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs371838885 1p31.1 1 69760232C> T null R C 15 15 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1417501005 1p31.1 1 69760233G> A null R H 15 15 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1557692687 1p31.1 1 69760250T> C null C R 21 21 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs767787912 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1p31.1 1 69760256C> T null R * 23 23 stop gained 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1216235119 1p31.1 1 69760266A> G null E G 26 26 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs750594049 1p31.1 1 69760272T> C null I T 28 28 missense 0.964 probably damaging 0.75 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1042004102 1p31.1 1 69760271A> G null I V 28 28 missense 0.811 possibly damaging 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs754812068 1p31.1 1 69760274A> C null I L 29 29 missense 0.005 benign 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs754812068 1p31.1 1 69760274A> G null I V 29 29 missense 0.0 benign 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs907477513 1p31.1 1 69760280G> A null V I 31 31 missense 0.949 probably damaging 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1381691826 1p31.1 1 69760319A> G null K E 44 44 missense 0.979 probably damaging 0.14 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs746532846 1p31.1 1 69760324G> T null E D 45 45 missense 0.979 probably damaging 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs780956737 1p31.1 1 69760325G> A null V I 46 46 missense 0.949 probably damaging 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs745493022 1p31.1 1 69760349G> C null E Q 54 54 missense 0.986 probably damaging 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1319089924 1p31.1 1 69792043C> A null Q K 69 69 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1057299123 1p31.1 1 69792053A> G null N S 72 72 missense 0.979 probably damaging 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 NCI-TCGA,TOPMed,gnomAD rs267598703 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p31.1 1 69792068G> A null R Q 77 77 missense 0.975 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1222862261 1p31.1 1 69792077G> T null S I 80 80 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs944727020 1p31.1 1 69792085G> A null D N 83 83 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs41287878 1p31.1 1 69792091G> A null D N 85 85 missense 0.992 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1470314934 1p31.1 1 69792094C> G null L V 86 86 missense 0.979 probably damaging 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1267693645 1p31.1 1 69792106C> T null P S 90 90 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1172584364 1p31.1 1 69792110C> T null T I 91 91 missense 0.326 benign 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1478053689 1p31.1 1 69792109A> C null T P 91 91 missense 0.326 benign 0.59 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1484967143 1p31.1 1 69792115A> G null I V 93 93 missense 0.811 possibly damaging 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1351757725 1p31.1 1 69792145G> A null D N 103 103 missense 0.992 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs376095080 1p31.1 1 69792148A> G null I V 104 104 missense 0.811 possibly damaging 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,TOPMed rs552763263 1p31.1 1 69825756G> C null E Q 111 111 2.0E-4 missense 0.173 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1041506358 1p31.1 1 69825759T> A null F I 112 112 missense 0.974 probably damaging 0.27 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1243897761 1p31.1 1 69825771A> G null I V 116 116 missense 0.811 possibly damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs774038757 1p31.1 1 69825776G> C null K N 117 117 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1307393675 1p31.1 1 69825779C> G null C W 118 118 missense 0.994 probably damaging 0.18 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs745411045 1p31.1 1 69825814A> G null N S 130 130 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs535749243 1p31.1 1 69834799C> G null Q E 141 141 2.0E-4 missense 0.878 possibly damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs888530412 1p31.1 1 69834801G> C null Q H 141 141 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs535749243 1p31.1 1 69834799C> A null Q K 141 141 2.0E-4 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs111522036 1p31.1 1 69834809A> G null N S 144 144 missense 0.979 probably damaging 0.28 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1176362963 1p31.1 1 69834820C> G null L V 148 148 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs766366739 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p31.1 1 69834835G> A null A T 153 153 missense 0.992 probably damaging 0.13 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1331492349 1p31.1 1 69834836C> T null A V 153 153 missense 0.987 probably damaging 0.11 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs376370993 1p31.1 1 69834857C> G null A G 160 160 missense 0.987 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs376370993 1p31.1 1 69834857C> T null A V 160 160 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1222648368 1p31.1 1 69834861T> G null N K 161 161 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs754441917 1p31.1 1 69834860A> G null N S 161 161 missense 0.979 probably damaging 0.2 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs754441917 1p31.1 1 69834860A> C null N T 161 161 missense 0.986 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs202175098 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1p31.1 1 69838241G> A null R Q 169 169 2.0E-4 missense 0.052 benign 0.83 tolerated 1 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs559659117 1p31.1 1 69931513G> A null M I 185 185 2.0E-4 missense 0.758 possibly damaging 0.51 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1347653159 1p31.1 1 69931511A> G null M V 185 185 missense 0.65 possibly damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs766970305 1p31.1 1 69931516C> G null H Q 186 186 missense 0.974 probably damaging 0.32 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs760893498 1p31.1 1 69931515A> G null H R 186 186 missense 0.964 probably damaging 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs755151095 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 69931524C> A null A D 189 189 missense 0.503 possibly damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs755151095 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 69931524C> G null A G 189 189 missense 0.0 benign 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs754394114 1p31.1 1 69931523G> T null A S 189 189 missense 0.13 benign 0.13 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs754394114 1p31.1 1 69931523G> A null A T 189 189 missense 0.306 benign 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs755151095 1p31.1 1 69931524C> T null A V 189 189 missense 0.379 benign 0.15 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs765386695 1p31.1 1 69931538C> T null L F 194 194 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs765386695 1p31.1 1 69931538C> G null L V 194 194 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs140920935 1p31.1 1 69931562G> A null G S 202 202 missense 0.0 benign 0.71 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs777791456 1p31.1 1 69931568C> A null L M 204 204 missense 0.994 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs777791456 1p31.1 1 69931568C> G null L V 204 204 missense 0.905 possibly damaging 0.9 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1316690956 1p31.1 1 69980391G> C null D H 209 209 missense 0.737 possibly damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1287237210 1p31.1 1 69980399A> G null I M 211 211 missense 0.989 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1407437476 1p31.1 1 69980400C> G null Q E 212 212 missense 0.917 probably damaging 0.29 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs28654288 1p31.1 1 69980409A> G null R G 215 215 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1416290954 1p31.1 1 69986245A> G null I V 231 231 missense 0.902 possibly damaging 0.15 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1046808157 1p31.1 1 69986248G> C null G R 232 232 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs544546011 1p31.1 1 69986253G> C null K N 233 233 2.0E-4 missense 0.995 probably damaging 0.32 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs544546011 1p31.1 1 69986253G> T null K N 233 233 2.0E-4 missense 0.995 probably damaging 0.32 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1223913802 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 69986260A> G null M V 236 236 missense 0.8 possibly damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes rs200421856 1p31.1 1 69986266G> C null V L 238 238 2.0E-4 missense 0.161 benign 0.19 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs780933399 1p31.1 1 69986278A> G null M V 242 242 missense 0.8 possibly damaging 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1157627216 1p31.1 1 69986300C> G null T R 249 249 missense 0.997 probably damaging 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs746291208 1p31.1 1 69986308A> G null M V 252 252 missense 0.019 benign 0.14 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1486947757 1p31.1 1 69986313C> G null D E 253 253 missense 0.034 benign 0.85 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs183786351 1p31.1 1 69986311G> A null D N 253 253 2.0E-4 missense 0.631 possibly damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1160859893 1p31.1 1 69986314A> G null I V 254 254 missense 0.001 benign 0.13 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs776103608 1p31.1 1 69986318C> T null S F 255 255 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs899477469 1p31.1 1 69986349G> T null L F 265 265 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1486829367 1p31.1 1 69986360T> C null M T 269 269 missense 0.956 probably damaging 0.38 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs767788922 1p31.1 1 69986378A> T null D V 275 275 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1372902662 1p31.1 1 69986385A> G null I M 277 277 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs773422061 1p31.1 1 69986383A> G null I V 277 277 missense 0.924 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs760911159 1p31.1 1 69994564T> A null L H 279 279 missense 0.999 probably damaging 0.56 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs762752829 1p31.1 1 69994597A> G null D G 290 290 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1328160824 1p31.1 1 69994609C> T null T I 294 294 missense 0.998 probably damaging 0.21 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1225076316 1p31.1 1 69994612T> G null M R 295 295 missense 0.095 benign 0.23 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1351760802 1p31.1 1 69994611A> G null M V 295 295 missense 0.0 benign 0.36 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1360248599 1p31.1 1 69994620A> G null N D 298 298 missense 0.992 probably damaging 0.94 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs72676879 1p31.1 1 69994621A> G null N S 298 298 0.006989 missense 0.992 probably damaging 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1289830164 1p31.1 1 69994623A> G null T A 299 299 missense 0.001 benign 0.3 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1012111899 1p31.1 1 69994627T> C null I T 300 300 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1490233048 1p31.1 1 69994626A> G null I V 300 300 missense 0.924 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1422938120 1p31.1 1 70011801T> A null S T 304 304 missense 0.986 probably damaging 0.28 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1029126158 1p31.1 1 70011826G> A null S N 312 312 missense 0.986 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs767519419 1p31.1 1 70011829G> T null C F 313 313 missense 0.997 probably damaging 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs761863170 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70011828T> C null C R 313 313 missense 0.997 probably damaging 0.36 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1382193124 1p31.1 1 70011836A> C null E D 315 315 missense 0.992 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1406769614 1p31.1 1 70011835A> G null E G 315 315 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1455859609 1p31.1 1 70011855A> G null T A 322 322 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs79675598 1p31.1 1 70011858A> G null I V 323 323 missense 0.003 benign 0.21 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs370913990 1p31.1 1 70011866C> A null Y * 325 325 stop gained 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs755351152 1p31.1 1 70011865A> G null Y C 325 325 missense 0.851 possibly damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1238809622 1p31.1 1 70011871A> G null H R 327 327 missense 0.987 probably damaging 0.37 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1195865471 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70011879C> T null R W 330 330 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1164759909 1p31.1 1 70011882A> T null T S 331 331 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1326288620 1p31.1 1 70011888G> A null A T 333 333 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1202270440 1p31.1 1 70011906C> A null L I 339 339 missense 0.992 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1557985327 1p31.1 1 70011921A> G null R G 344 344 missense 0.991 probably damaging 0.3 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1474444135 1p31.1 1 70011922G> A null R K 344 344 missense 0.977 probably damaging 0.72 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs758912320 1p31.1 1 70011923A> T null R S 344 344 missense 0.991 probably damaging 0.63 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1424404695 1p31.1 1 70012974A> C null I L 346 346 missense 0.903 possibly damaging 0.13 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs753076846 1p31.1 1 70012980A> T null S C 348 348 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1172629412 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70012981G> A null S N 348 348 missense 0.986 probably damaging 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1303951422 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70013010C> T null R C 358 358 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1396319250 1p31.1 1 70013011G> A null R H 358 358 missense 0.997 probably damaging 0.58 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs369401567 1p31.1 1 70013020A> G null K R 361 361 missense 0.992 probably damaging 0.17 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1441216804 1p31.1 1 70013044T> C null I T 369 369 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs923327359 1p31.1 1 70013070C> A null L I 378 378 missense 0.992 probably damaging 0.51 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1216774297 1p31.1 1 70013083A> G null D G 382 382 missense 0.997 probably damaging 0.25 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1464356506 1p31.1 1 70016474_70016475insATTTAAAAAAATGAAAAT A null L I 388 388 stop gained 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1224886827 1p31.1 1 70016504G> T null E D 397 397 missense 0.992 probably damaging 0.56 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs756299438 1p31.1 1 70018756C> T null P L 420 420 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1453563867 1p31.1 1 70018755C> A null P T 420 420 missense 0.996 probably damaging 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1198418578 1p31.1 1 70018766G> C null K N 423 423 missense 0.99 probably damaging 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs755259670 1p31.1 1 70018788A> T null M L 431 431 missense 0.65 possibly damaging 0.27 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs755259670 1p31.1 1 70018788A> G null M V 431 431 missense 0.65 possibly damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs778947693 1p31.1 1 70018806C> T null R C 437 437 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs751429233 1p31.1 1 70018807G> A null R H 437 437 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs753984471 1p31.1 1 70021008T> C null F S 442 442 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1490562987 1p31.1 1 70021034C> T null P S 451 451 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs991942224 1p31.1 1 70021041T> C null L P 453 453 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs765562100 1p31.1 1 70021064C> T null R C 461 461 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs535532334 1p31.1 1 70021067A> G null M V 462 462 missense 0.721 possibly damaging 0.18 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1194508723 1p31.1 1 70021071C> T null T I 463 463 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1194508723 1p31.1 1 70021071C> G null T S 463 463 missense 0.984 probably damaging 0.16 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1242230780 1p31.1 1 70021077C> G null A G 465 465 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1234484430 1p31.1 1 70021087T> G null F L 468 468 missense 0.971 probably damaging 0.18 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs267598704 1p31.1 1 70021094A> G null K E 471 471 missense 0.984 probably damaging 0.13 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1334878334 1p31.1 1 70021095A> G null K R 471 471 missense 0.984 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs199590476 1p31.1 1 70021102A> T null E D 473 473 2.0E-4 missense 0.003 benign 0.8 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1166117688 1p31.1 1 70021100G> C null E Q 473 473 missense 0.226 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs780870301 1p31.1 1 70021104A> G null D G 474 474 missense 0.286 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs757125340 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70021103G> A null D N 474 474 missense 0.22 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1479787904 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70021106G> A null D N 475 475 missense 0.525 possibly damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1318855534 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70021109G> A null E K 476 476 missense 0.095 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs370020555 1p31.1 1 70021118G> A null G R 479 479 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1420998179 1p31.1 1 70021121A> G null K E 480 480 missense 0.003 benign 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1325089261 1p31.1 1 70021128A> C null K T 482 482 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs201467999 1p31.1 1 70023135T> G null C G 486 486 2.0E-4 missense 0.974 probably damaging 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs201467999 1p31.1 1 70023135T> C null C R 486 486 2.0E-4 missense 0.992 probably damaging 0.15 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs199981285 1p31.1 1 70023142C> A null A D 488 488 missense 0.996 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs765211566 1p31.1 1 70023141G> C null A P 488 488 missense 0.996 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs752772068 1p31.1 1 70023145C> T null P L 489 489 missense 0.996 probably damaging 0.26 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs752772068 1p31.1 1 70023145C> G null P R 489 489 missense 0.997 probably damaging 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1383610585 1p31.1 1 70023147T> A null W R 490 490 missense 0.994 probably damaging 0.34 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs866086728 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70023150G> A null E K 491 491 missense 0.049 benign 0.2 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1310816554 1p31.1 1 70023156G> C null G R 493 493 missense 0.999 probably damaging 0.13 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1340041433 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70023162C> T null R C 495 495 missense 0.995 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs750231315 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70023163G> A null R H 495 495 missense 0.993 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs765357966 1p31.1 1 70023172C> T null T I 498 498 missense 0.372 benign 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs765357966 1p31.1 1 70023172C> G null T S 498 498 missense 0.164 benign 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1327721623 1p31.1 1 70023178A> G null Q R 500 500 missense 0.946 probably damaging 0.55 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs775479062 1p31.1 1 70023180C> T null P S 501 501 missense 0.994 probably damaging 0.19 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs766365842 1p31.1 1 70023183G> A null A T 502 502 missense 0.991 probably damaging 0.69 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1267017787 1p31.1 1 70023187G> C null R T 503 503 missense 0.974 probably damaging 0.25 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs931606232 1p31.1 1 70023190T> C null L P 504 504 missense 0.996 probably damaging 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1201875440 1p31.1 1 70023195G> A null G S 506 506 missense 0.997 probably damaging 0.31 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1182270546 1p31.1 1 70023199A> G null D G 507 507 missense 0.991 probably damaging 0.23 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201075157 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70023198G> A null D N 507 507 missense 0.992 probably damaging 0.28 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs778320194 1p31.1 1 70023202G> T null C F 508 508 missense 0.992 probably damaging 0.28 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs778320194 1p31.1 1 70023202G> C null C S 508 508 missense 0.974 probably damaging 0.57 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1471605366 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70023205G> A null C Y 509 509 missense 0.992 probably damaging 0.22 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs747630247 1p31.1 1 70023208C> T null T I 510 510 missense 0.994 probably damaging 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1251325285 1p31.1 1 70023210C> T null P S 511 511 missense 0.994 probably damaging 0.1 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1406985430 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70023213T> C null W R 512 512 missense 0.994 probably damaging 0.41 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs539854400 1p31.1 1 70023219A> G null R G 514 514 2.0E-4 missense 0.974 probably damaging 0.29 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1484214916 1p31.1 1 70023220G> C null R T 514 514 missense 0.974 probably damaging 0.21 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs539854400 1p31.1 1 70023219A> T null R W 514 514 2.0E-4 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1278655089 1p31.1 1 70023230G> C null Q H 517 517 missense 0.989 probably damaging 0.19 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs777557731 1p31.1 1 70023229A> C null Q P 517 517 missense 0.964 probably damaging 0.14 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1392122539 1p31.1 1 70023235T> A null I N 519 519 missense 0.989 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs565543587 1p31.1 1 70023245G> T null M I 522 522 missense 0.758 possibly damaging 0.53 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs771391360 1p31.1 1 70023244T> G null M R 522 522 missense 0.884 possibly damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs200897551 1p31.1 1 70023249G> A null V I 524 524 3.99E-4 missense 0.952 probably damaging 0.23 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1220420087 1p31.1 1 70023255C> G null Q E 526 526 missense 0.878 possibly damaging 0.45 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1482755622 1p31.1 1 70023270C> G null L V 531 531 missense 0.979 probably damaging 0.38 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs764279942 1p31.1 1 70023273G> C null A P 532 532 missense 0.996 probably damaging 0.15 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs764279942 1p31.1 1 70023273G> T null A S 532 532 missense 0.987 probably damaging 0.38 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs774549173 1p31.1 1 70023280G> T null G V 534 534 missense 0.999 probably damaging 0.22 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1481937563 1p31.1 1 70023285A> G null I V 536 536 missense 0.811 possibly damaging 0.64 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1410065936 1p31.1 1 70023292G> A null G D 538 538 missense 0.998 probably damaging 0.31 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs766138134 1p31.1 1 70023294C> T null L F 539 539 missense 0.994 probably damaging 0.66 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1174062344 1p31.1 1 70023300C> G null Q E 541 541 missense 0.424 benign 0.52 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs765167220 1p31.1 1 70023307G> T null R M 543 543 missense 0.66 possibly damaging 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1310053555 1p31.1 1 70023310G> A null S N 544 544 missense 0.154 benign 0.47 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1310053555 1p31.1 1 70023310G> C null S T 544 544 missense 0.005 benign 0.43 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs752211463 1p31.1 1 70023315T> G null C G 546 546 missense 0.0 benign 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs757925062 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70023318A> G null T A 547 547 missense 0.003 benign 0.44 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1298638742 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70023326G> T null L F 549 549 missense 0.319 benign 0.47 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1217961542 1p31.1 1 70023325T> G null L W 549 549 missense 0.79 possibly damaging 0.11 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1378111862 1p31.1 1 70023328C> T null P L 550 550 missense 0.996 probably damaging 0.2 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs373563844 1p31.1 1 70023330G> T null V F 551 551 missense 0.401 benign 0.27 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1471630590 1p31.1 1 70023334C> A null A E 552 552 missense 0.994 probably damaging 0.51 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1228748771 1p31.1 1 70023339C> T null Q * 554 554 stop gained 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs971537952 1p31.1 1 70023340A> C null Q P 554 554 missense 0.036 benign 0.24 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1339585967 1p31.1 1 70023342T> C null S P 555 555 missense 0.0 benign 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs781712945 1p31.1 1 70023355C> T null P L 559 559 missense 0.996 probably damaging 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs781712945 1p31.1 1 70023355C> G null P R 559 559 missense 0.997 probably damaging 0.15 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs746175015 1p31.1 1 70023360C> G null L V 561 561 missense 0.979 probably damaging 0.33 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs374585057 1p31.1 1 70023364G> A null S N 562 562 missense 0.961 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs770215222 1p31.1 1 70023370G> T null R I 564 564 missense 0.988 probably damaging 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs770215222 1p31.1 1 70023370G> A null R K 564 564 missense 0.937 probably damaging 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs752649439 1p31.1 1 70028175A> G null E G 567 567 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs762420604 1p31.1 1 70028184T> G null L R 570 570 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs763720419 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70028190G> A null R Q 572 572 missense 0.984 probably damaging 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1264820695 1p31.1 1 70028198A> G null T A 575 575 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1030286536 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70028208C> G null P R 578 578 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs866567784 1p31.1 1 70028207C> A null P T 578 578 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1486133427 1p31.1 1 70028211A> C null E A 579 579 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs756972138 1p31.1 1 70028214A> G null D G 580 580 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs750809955 1p31.1 1 70028216T> G null L V 581 581 missense 0.986 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs267598705 1p31.1 1 70028221G> T null K N 582 582 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs780461590 1p31.1 1 70028228G> T null V L 585 585 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368837470 1p31.1 1 70028233A> T null K N 586 586 7.99E-4 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs769099864 1p31.1 1 70028234T> G null S A 587 587 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs778993760 1p31.1 1 70028237G> C null V L 588 588 missense 0.981 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC rs552230060 1p31.1 1 70028243A> T null N Y 590 590 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs565621932 1p31.1 1 70028247T> C null L S 591 591 3.99E-4 missense 0.588 possibly damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs759293934 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70028249G> A null V M 592 592 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs534680122 1p31.1 1 70028255A> C null K Q 594 594 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs775100037 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70028259C> T null P L 595 595 missense 0.144 benign 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1417170556 1p31.1 1 70028265A> G null H R 597 597 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs753669805 1p31.1 1 70028270G> A null V M 599 599 missense 0.807 possibly damaging 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201500873 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70028273C> T null R C 600 600 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375559029 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70028274G> A null R H 600 600 missense 0.993 probably damaging 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1194164492 1p31.1 1 70028276G> A null V I 601 601 missense 0.003 benign 0.25 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs950729285 1p31.1 1 70028280A> G null E G 602 602 missense 0.981 probably damaging 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs751127439 1p31.1 1 70028283A> G null N S 603 603 missense 0.961 probably damaging 0.22 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs987456834 1p31.1 1 70028295C> T null T I 607 607 missense 0.147 benign 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs761393211 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70028304C> T null T M 610 610 missense 0.171 benign 0.38 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs750056767 1p31.1 1 70028325A> C null K T 617 617 missense 0.988 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1317560283 1p31.1 1 70028334A> G null H R 620 620 missense 0.974 probably damaging 0.53 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs756480524 1p31.1 1 70028343C> T null P L 623 623 missense 0.63 possibly damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1432248392 1p31.1 1 70028345G> T null V L 624 624 missense 0.039 benign 0.65 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs974995296 1p31.1 1 70028349C> A null A D 625 625 missense 0.782 possibly damaging 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes rs200880197 1p31.1 1 70028352C> T null P L 626 626 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1301195503 1p31.1 1 70028354A> C null K Q 627 627 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,NCI-TCGA,gnomAD rs200158661 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70028357G> A null E K 628 628 2.0E-4 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs779382830 1p31.1 1 70028366G> T null V L 631 631 missense 0.009 benign 0.32 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1334205773 1p31.1 1 70028370A> T null E V 632 632 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs774424374 1p31.1 1 70036125C> G null S C 634 634 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs927857622 1p31.1 1 70036124T> C null S P 634 634 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs937851050 1p31.1 1 70036130G> A null V I 636 636 missense 0.976 probably damaging 0.18 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144654091 1p31.1 1 70036144T> G null N K 640 640 0.001398 missense 0.133 benign 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs867919561 1p31.1 1 70036145G> A null E K 641 641 missense 0.133 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs768516683 1p31.1 1 70036158G> C null G A 645 645 missense 0.998 probably damaging 0.73 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs768516683 1p31.1 1 70036158G> A null G E 645 645 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs754261582 1p31.1 1 70036163C> T null L F 647 647 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1243616676 1p31.1 1 70036211C> A null L M 663 663 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376367677 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70036218G> A null G E 665 665 missense 0.29 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1284751263 1p31.1 1 70036227A> T null K I 668 668 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs753119568 1p31.1 1 70036444A> G null E G 670 670 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs267598706 1p31.1 1 70036232G> A null E K 670 670 missense 0.986 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1367642704 1p31.1 1 70036449A> G null T A 672 672 missense 0.986 probably damaging 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1274458679 1p31.1 1 70036453A> C null D A 673 673 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs776239025 1p31.1 1 70036458T> G null S A 675 675 missense 0.938 probably damaging 0.15 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1451468387 1p31.1 1 70036470A> G null K E 679 679 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs200240524 1p31.1 1 70036477A> G null H R 681 681 missense 0.049 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs774366448 1p31.1 1 70036476C> T null H Y 681 681 missense 0.173 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1248091305 1p31.1 1 70036480G> T null C F 682 682 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1248091305 1p31.1 1 70036480G> C null C S 682 682 missense 0.983 probably damaging 0.04 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs765612430 1p31.1 1 70036504G> A null G D 690 690 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1485417050 1p31.1 1 70036506A> C null T P 691 691 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs758949633 1p31.1 1 70036519A> G null Y C 695 695 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1460807529 1p31.1 1 70036524C> T null P S 697 697 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs866948588 1p31.1 1 70036537C> T null S F 701 701 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs757278900 1p31.1 1 70036546C> T null S F 704 704 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1341249313 1p31.1 1 70036549C> G null S C 705 705 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs761783275 1p31.1 1 70036551A> G null N D 706 706 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs761783275 1p31.1 1 70036551A> C null N H 706 706 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs140092259 1p31.1 1 70036558G> T null R L 708 708 missense 0.991 probably damaging 0.14 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs140092259 1p31.1 1 70036558G> A null R Q 708 708 missense 0.984 probably damaging 0.26 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1209899583 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70036566G> A null V M 711 711 missense 0.01 benign 0.57 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs773021847 1p31.1 1 70036570G> C null G A 712 712 missense 0.039 benign 0.06 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs773021847 1p31.1 1 70036570G> A null G E 712 712 missense 0.818 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1465843611 1p31.1 1 70036578C> A null Q K 715 715 missense 0.943 probably damaging 0.07 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs770329377 1p31.1 1 70036579A> G null Q R 715 715 missense 0.964 probably damaging 0.03 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1423965467 1p31.1 1 70036596G> A null A T 721 721 missense 0.015 benign 0.05 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs966432962 1p31.1 1 70036603A> C null H P 723 723 missense 0.326 benign 0.4 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs566826422 1p31.1 1 70036606A> T null N I 724 724 missense 0.259 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs375152543 1p31.1 1 70036607T> G null N K 724 724 missense 0.049 benign 0.02 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs759218726 1p31.1 1 70036618G> C null G A 728 728 missense 0.998 probably damaging 0.1 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs759218726 1p31.1 1 70036618G> T null G V 728 728 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs746942619 1p31.1 1 70038114A> T null I F 731 731 missense 0.073 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC rs770865664 1p31.1 1 70038120C> A null P T 733 733 missense 0.224 benign 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1439026962 1p31.1 1 70038123T> C null S P 734 734 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl,NCI-TCGA rs771941077 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038136C> T null P L 738 738 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1471534291 1p31.1 1 70038139T> C null L P 739 739 missense 0.857 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1371795931 1p31.1 1 70038151C> T null P L 743 743 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1048803344 1p31.1 1 70038155A> T null L F 744 744 missense 0.996 probably damaging 0.03 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs780689303 1p31.1 1 70038157T> G null L R 745 745 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1467811019 1p31.1 1 70038159A> G null S G 746 746 missense 0.098 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs201295016 1p31.1 1 70038166G> A null R Q 748 748 3.99E-4 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs745328044 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038165C> T null R W 748 748 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs763412623 1p31.1 1 70038171G> T null A S 750 750 missense 0.007 benign 0.65 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,gnomAD rs376641036 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038175T> C null V A 751 751 missense 0.23 benign 1.0 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1355662935 1p31.1 1 70038177C> T null P S 752 752 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1305758247 1p31.1 1 70038181C> T null P L 753 753 missense 0.107 benign 0.03 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1391310817 1p31.1 1 70038180C> A null P T 753 753 missense 0.073 benign 0.37 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1312235722 1p31.1 1 70038186A> G null N D 755 755 missense 0.053 benign 0.02 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs762257420 1p31.1 1 70038187A> G null N S 755 755 missense 0.003 benign 0.34 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1253909278 1p31.1 1 70038190T> A null I K 756 756 missense 0.132 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1253909278 1p31.1 1 70038190T> C null I T 756 756 missense 0.09 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1397847299 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038192C> T null P S 757 757 missense 0.364 benign 0.55 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1004541019 1p31.1 1 70038195C> G null Q E 758 758 missense 0.03 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1346614881 1p31.1 1 70038196A> G null Q R 758 758 missense 0.068 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200373817 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038198C> T null R C 759 759 2.0E-4 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs777755924 1p31.1 1 70038199G> A null R H 759 759 missense 0.995 probably damaging 0.03 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs555212671 1p31.1 1 70038201C> T null P S 760 760 0.002196 missense 0.996 probably damaging 0.65 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1176517583 1p31.1 1 70038206C> A null D E 761 761 missense 0.001 benign 0.42 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs766749937 1p31.1 1 70038207C> G null R G 762 762 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs372336266 1p31.1 1 70038208G> T null R L 762 762 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs372336266 1p31.1 1 70038208G> A null R Q 762 762 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs766749937 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p31.1 1 70038207C> T null R W 762 762 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1196797047 1p31.1 1 70038214C> G null P R 764 764 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs568596228 1p31.1 1 70038218G> C null M I 765 765 2.0E-4 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs568596228 1p31.1 1 70038218G> A null M I 765 765 2.0E-4 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs953211594 1p31.1 1 70038216A> G null M V 765 765 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs751306267 1p31.1 1 70038220G> A null S N 766 766 missense 0.068 benign 0.02 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1021698219 1p31.1 1 70038228T> C null F L 769 769 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1369094910 1p31.1 1 70038231A> G null T A 770 770 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs757203769 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038232C> A null T N 770 770 missense 0.033 benign 0.03 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs757203769 1p31.1 1 70038232C> G null T S 770 770 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1262901519 1p31.1 1 70038234G> T null D Y 771 771 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC rs146798900 1p31.1 1 70038238A> G null N S 772 772 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1388011161 1p31.1 1 70038247A> G null D G 775 775 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs769259626 1p31.1 1 70038253C> T null S L 777 777 missense 0.984 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1467000059 1p31.1 1 70038252T> C null S P 777 777 missense 0.987 probably damaging 0.44 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs768313801 1p31.1 1 70038256A> G null H R 778 778 missense 0.976 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1203496978 1p31.1 1 70038268C> T null T I 782 782 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs748486631 1p31.1 1 70038276G> A null V I 785 785 missense 0.966 probably damaging 0.22 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs983160594 1p31.1 1 70038282G> C null E Q 787 787 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1253301441 1p31.1 1 70038285G> A null E K 788 788 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1208150547 1p31.1 1 70038289C> T null T I 789 789 missense 0.049 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1450400128 1p31.1 1 70038291A> G null T A 790 790 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs760887850 1p31.1 1 70038299G> C null E D 792 792 missense 0.986 probably damaging 0.23 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs773827039 1p31.1 1 70038297G> A null E K 792 792 missense 0.987 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146930680 1p31.1 1 70038301A> G null N S 793 793 2.0E-4 missense 0.986 probably damaging 0.17 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144821920 1p31.1 1 70038304C> G null A G 794 794 2.0E-4 missense 0.991 probably damaging 0.19 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144821920 1p31.1 1 70038304C> T null A V 794 794 2.0E-4 missense 0.991 probably damaging 0.06 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs199999690 1p31.1 1 70038306A> G null N D 795 795 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1393055389 1p31.1 1 70038310G> A null S N 796 796 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1299391687 1p31.1 1 70038315C> G null P A 798 798 missense 0.006 benign 0.05 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1299391687 1p31.1 1 70038315C> T null P S 798 798 missense 0.116 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs751372300 1p31.1 1 70038319T> C null L P 799 799 missense 0.997 probably damaging 0.26 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1054286896 1p31.1 1 70038321T> A null L I 800 800 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1313089987 1p31.1 1 70038325G> A null S N 801 801 missense 0.001 benign 0.29 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372385321 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p31.1 1 70038328C> T null S L 802 802 missense 0.104 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,gnomAD rs375714913 1p31.1 1 70038336A> G null R G 805 805 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1465387393 1p31.1 1 70038339A> G null S G 806 806 missense 0.098 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs946110751 1p31.1 1 70038342A> G null T A 807 807 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1246459421 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038349C> T null S L 809 809 missense 0.035 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1182861744 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038357C> T null R C 812 812 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1214869434 1p31.1 1 70038358G> A null R H 812 812 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1164805950 1p31.1 1 70038364C> T null P L 814 814 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1457338604 1p31.1 1 70038383G> T null R S 820 820 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1321894929 1p31.1 1 70038388T> C null V A 822 822 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1196264283 1p31.1 1 70038387G> A null V I 822 822 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs754599704 1p31.1 1 70038397C> T null P L 825 825 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs778612870 1p31.1 1 70038404A> C null E D 827 827 missense 0.013 benign 0.02 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1231432387 1p31.1 1 70038408G> A null E K 829 829 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs772544650 1p31.1 1 70038411C> A null Q K 830 830 missense 0.943 probably damaging 0.02 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1329735347 1p31.1 1 70038414T> C null S P 831 831 missense 0.01 benign 0.52 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1230312980 1p31.1 1 70038417A> G null T A 832 832 missense 0.005 benign 0.21 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1302499163 1p31.1 1 70038435G> C null E Q 838 838 missense 0.991 probably damaging 0.23 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1441582236 1p31.1 1 70038438A> G null T A 839 839 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1396722507 1p31.1 1 70038456A> G null N D 845 845 missense 0.99 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs771403094 1p31.1 1 70038457A> G null N S 845 845 missense 0.99 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1465202870 1p31.1 1 70038460C> T null P L 846 846 missense 0.998 probably damaging 0.05 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1239630066 1p31.1 1 70038466A> C null Q P 848 848 missense 0.976 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1397476244 1p31.1 1 70038481C> T null T I 853 853 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs267598707 1p31.1 1 70038483C> T null P S 854 854 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1224240690 1p31.1 1 70038489C> G null P A 856 856 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs776591746 1p31.1 1 70038490C> T null P L 856 856 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC rs369279821 1p31.1 1 70038503G> T null R S 860 860 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1455950577 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038507G> A null A T 862 862 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs767318850 1p31.1 1 70038520A> G null K R 866 866 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs750175960 1p31.1 1 70038526A> C null E A 868 868 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1176308156 1p31.1 1 70038529C> A null T K 869 869 missense 0.107 benign 0.09 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1176308156 1p31.1 1 70038529C> G null T R 869 869 missense 0.143 benign 0.05 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs560621997 1p31.1 1 70038528A> T null T S 869 869 missense 0.003 benign 0.75 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs756045617 1p31.1 1 70038532C> T null T I 870 870 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs756045617 1p31.1 1 70038532C> A null T N 870 870 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs756045617 1p31.1 1 70038532C> G null T S 870 870 missense 0.986 probably damaging 0.04 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs141934258 1p31.1 1 70038534C> T null P S 871 871 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1279364334 1p31.1 1 70038537A> G null T A 872 872 missense 0.986 probably damaging 0.22 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1279364334 1p31.1 1 70038537A> T null T S 872 872 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs778481361 1p31.1 1 70038540A> C null T P 873 873 missense 0.424 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1373051936 1p31.1 1 70038543A> G null S G 874 874 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1231845003 1p31.1 1 70038546C> T null P S 875 875 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs561433206 1p31.1 1 70038551G> T null L F 876 876 2.0E-4 missense 0.996 probably damaging 0.21 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs771342490 1p31.1 1 70038553C> A null P H 877 877 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs771177815 1p31.1 1 70038552C> T null P S 877 877 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1336441719 1p31.1 1 70038562A> G null K R 880 880 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs879400916 1p31.1 1 70038564G> C null E Q 881 881 missense 0.132 benign 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs747323408 1p31.1 1 70038568A> T null H L 882 882 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs747323408 1p31.1 1 70038568A> G null H R 882 882 missense 0.091 benign 0.18 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1050296539 1p31.1 1 70038571T> C null I T 883 883 missense 0.033 benign 0.11 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs771402657 1p31.1 1 70038578A> T null E D 885 885 missense 0.005 benign 0.05 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1178261980 1p31.1 1 70038580C> G null S C 886 886 missense 0.489 possibly damaging 0.07 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs966066293 1p31.1 1 70038579T> A null S T 886 886 missense 0.046 benign 0.41 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs745977690 1p31.1 1 70038582A> G null T A 887 887 missense 0.0 benign 0.69 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs745977690 1p31.1 1 70038582A> T null T S 887 887 missense 0.02 benign 0.47 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs775496191 1p31.1 1 70038585G> C null E Q 888 888 missense 0.242 benign 0.22 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs990013007 1p31.1 1 70038588A> G null I V 889 889 missense 0.014 benign 0.79 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1558013598 1p31.1 1 70038592C> G null P R 890 890 missense 0.48 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs768795497 1p31.1 1 70038597C> T null P S 892 892 missense 0.996 probably damaging 0.05 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs773004438 1p31.1 1 70038606C> G null P A 895 895 missense 0.074 benign 0.04 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs773004438 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038606C> T null P S 895 895 missense 0.006 benign 0.28 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs753775702 1p31.1 1 70038610G> A null G D 896 896 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs753775702 1p31.1 1 70038610G> T null G V 896 896 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs758138383 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038612G> A null V I 897 897 missense 0.04 benign 0.89 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs757614153 1p31.1 1 70038623G> T null E D 900 900 missense 0.986 probably damaging 0.15 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs781601158 1p31.1 1 70038624T> C null Y H 901 901 missense 0.996 probably damaging 0.03 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1558013681 1p31.1 1 70038627C> T null H Y 902 902 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1369126172 1p31.1 1 70038631A> G null D G 903 903 missense 0.994 probably damaging 0.03 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs981893942 1p31.1 1 70038630G> A null D N 903 903 missense 0.994 probably damaging 0.2 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs770157708 1p31.1 1 70038637A> G null N S 905 905 missense 0.03 benign 0.22 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs780109772 1p31.1 1 70038639C> T null P S 906 906 missense 0.003 benign 0.27 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs780109772 1p31.1 1 70038639C> A null P T 906 906 missense 0.073 benign 0.41 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs774551120 1p31.1 1 70038644C> A null N K 907 907 missense 0.098 benign 0.02 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs768924219 1p31.1 1 70038643A> G null N S 907 907 missense 0.005 benign 0.11 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs769921319 1p31.1 1 70038646G> A null R K 908 908 missense 0.958 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs776250160 1p31.1 1 70038647G> T null R S 908 908 missense 0.983 probably damaging 0.06 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1254323726 1p31.1 1 70038649G> A null S N 909 909 missense 0.974 probably damaging 0.31 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs916154154 1p31.1 1 70038655G> A null S N 911 911 missense 0.1 benign 0.39 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs759522446 1p31.1 1 70038659T> G null N K 912 912 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs765208920 1p31.1 1 70038661T> A null V D 913 913 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs752317246 1p31.1 1 70038664T> C null F S 914 914 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1476287310 1p31.1 1 70038663T> G null F V 914 914 missense 0.983 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs182735253 1p31.1 1 70038676A> G null H R 918 918 2.0E-4 missense 0.976 probably damaging 0.01 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs560442756 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038681C> T null R C 920 920 2.0E-4 missense 0.701 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs141932871 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p31.1 1 70038682G> A null R H 920 920 5.99E-4 missense 0.003 benign 0.19 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141932871 1p31.1 1 70038682G> T null R L 920 920 5.99E-4 missense 0.239 benign 0.11 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs560442756 1p31.1 1 70038681C> A null R S 920 920 2.0E-4 missense 0.182 benign 0.09 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs764421124 1p31.1 1 70038685C> T null P L 921 921 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs780524150 1p31.1 1 70038684C> A null P T 921 921 missense 0.997 probably damaging 0.05 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1401813984 1p31.1 1 70038696A> G null K E 925 925 missense 0.986 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1269921800 1p31.1 1 70038713T> G null I M 930 930 missense 0.012 benign 0.45 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs796216940 1p31.1 1 70038715G> C null S T 931 931 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1471560814 1p31.1 1 70038727A> T null E V 935 935 missense 0.505 possibly damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs745638750 1p31.1 1 70038730G> A null R K 936 936 missense 0.958 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1212476443 1p31.1 1 70038732C> T null L F 937 937 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs769922739 1p31.1 1 70038733T> A null L H 937 937 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs769922739 1p31.1 1 70038733T> C null L P 937 937 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs775540854 1p31.1 1 70038738C> A null P T 939 939 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs761529034 1p31.1 1 70038746G> A null M I 941 941 missense 0.827 possibly damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1473109138 1p31.1 1 70038744A> C null M L 941 941 missense 0.739 possibly damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs767015646 1p31.1 1 70038751A> G null D G 943 943 missense 0.994 probably damaging 0.16 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1484988468 1p31.1 1 70038781A> C null Q P 953 953 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1387436863 1p31.1 1 70038784G> A null S N 954 954 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs756429296 1p31.1 1 70038786A> T null I F 955 955 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs754320646 1p31.1 1 70038789G> A null D N 956 956 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs755440263 1p31.1 1 70038801A> T null I F 960 960 missense 0.28 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1334694422 1p31.1 1 70038805G> A null G D 961 961 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs199625804 1p31.1 1 70038811A> G null Y C 963 963 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1338834080 1p31.1 1 70038822A> G null N D 967 967 missense 0.986 probably damaging 0.65 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1474005389 1p31.1 1 70038824C> A null N K 967 967 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs758704986 1p31.1 1 70038825A> C null I L 968 968 missense 0.867 possibly damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1202973123 1p31.1 1 70038827A> G null I M 968 968 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs777857057 1p31.1 1 70038828C> G null P A 969 969 missense 0.994 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1442812782 1p31.1 1 70038829C> A null P Q 969 969 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs777857057 1p31.1 1 70038828C> A null P T 969 969 missense 0.997 probably damaging 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs769692717 1p31.1 1 70038841A> G null Y C 973 973 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1189755053 1p31.1 1 70038840T> C null Y H 973 973 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,gnomAD rs374705442 1p31.1 1 70038844C> T null A V 974 974 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs749265766 1p31.1 1 70038850G> C null G A 976 976 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1451955450 1p31.1 1 70038852A> G null S G 977 977 missense 0.0 benign 0.41 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1042901855 1p31.1 1 70038855G> T null D Y 978 978 missense 0.621 possibly damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1158231866 1p31.1 1 70038865G> A null G E 981 981 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs553369730 1p31.1 1 70038867A> G null S G 982 982 2.0E-4 missense 0.367 benign 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1166355964 1p31.1 1 70038868G> A null S N 982 982 missense 0.566 possibly damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371826605 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038873G> A null E K 984 984 missense 0.311 benign 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs535762389 1p31.1 1 70038877G> T null R L 985 985 2.0E-4 missense 0.991 probably damaging 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs535762389 1p31.1 1 70038877G> A null R Q 985 985 2.0E-4 missense 0.984 probably damaging 0.2 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs766750522 1p31.1 1 70038880C> T null P L 986 986 missense 0.176 benign 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs755491527 1p31.1 1 70038883A> G null D G 987 987 missense 0.994 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs765648963 1p31.1 1 70038890G> T null M I 989 989 missense 0.0 benign 0.32 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs574899140 1p31.1 1 70038894G> A null G R 991 991 2.0E-4 missense 0.928 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs574899140 1p31.1 1 70038894G> C null G R 991 991 2.0E-4 missense 0.928 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1212778250 1p31.1 1 70038900G> A null E K 993 993 missense 0.986 probably damaging 0.2 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs778110082 1p31.1 1 70038904A> T null H L 994 994 missense 0.976 probably damaging 0.31 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs778110082 1p31.1 1 70038904A> G null H R 994 994 missense 0.976 probably damaging 0.48 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1485324801 1p31.1 1 70038911G> C null M I 996 996 missense 0.003 benign 0.39 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs751755069 1p31.1 1 70038912T> C null S P 997 997 missense 0.0 benign 0.28 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs757516889 1p31.1 1 70038915A> G null S G 998 998 missense 0.974 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1417411406 1p31.1 1 70038918A> G null M V 999 999 missense 0.739 possibly damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs779996649 1p31.1 1 70038932G> C null Q H 1003 1003 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs375046296 1p31.1 1 70038942A> G null M V 1007 1007 missense 0.739 possibly damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1316257040 1p31.1 1 70038954G> A null E K 1011 1011 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs747733940 1p31.1 1 70038960C> T null L F 1013 1013 missense 0.996 probably damaging 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1300431430 1p31.1 1 70038961T> C null L P 1013 1013 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs747733940 1p31.1 1 70038960C> G null L V 1013 1013 missense 0.986 probably damaging 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs771460031 1p31.1 1 70038964C> G null T S 1014 1014 missense 0.049 benign 0.4 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs981289748 1p31.1 1 70038967A> G null Y C 1015 1015 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1558014645 1p31.1 1 70038970G> C null G A 1016 1016 missense 0.024 benign 0.65 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1342022584 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p31.1 1 70038969G> A null G R 1016 1016 missense 0.857 possibly damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs760326575 1p31.1 1 70038972A> G null S G 1017 1017 missense 0.0 benign 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs770515000 1p31.1 1 70038975A> G null S G 1018 1018 missense 0.0 benign 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1205526743 1p31.1 1 70038980G> T null K N 1019 1019 missense 0.993 probably damaging 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs777039171 1p31.1 1 70038982G> A null G E 1020 1020 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1015767083 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70038981G> A null G R 1020 1020 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs777039171 1p31.1 1 70038982G> T null G V 1020 1020 missense 0.999 probably damaging 0.37 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs376875830 1p31.1 1 70038985C> T null P L 1021 1021 missense 0.224 benign 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1428457255 1p31.1 1 70038984C> A null P T 1021 1021 missense 0.291 benign 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC rs145438020 1p31.1 1 70038987C> A null Q K 1022 1022 2.0E-4 missense 0.02 benign 0.28 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs764114115 1p31.1 1 70038994A> C null Q P 1024 1024 missense 0.0 benign 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1394643961 1p31.1 1 70038997A> G null K R 1025 1025 missense 0.005 benign 0.23 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1558014836 1p31.1 1 70039002T> G null S A 1027 1027 missense 0.938 probably damaging 0.42 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1450484335 1p31.1 1 70039003C> G null S C 1027 1027 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113002971 1p31.1 1 70039005A> G null M V 1028 1028 3.99E-4 missense 0.0 benign 0.97 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1371869512 1p31.1 1 70039008A> G null T A 1029 1029 missense 0.986 probably damaging 0.14 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs757564241 1p31.1 1 70039009C> T null T I 1029 1029 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs781546681 1p31.1 1 70039013A> T null K N 1030 1030 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1394567052 1p31.1 1 70039021A> G null Y C 1033 1033 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs753748733 1p31.1 1 70039030A> C null D A 1036 1036 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs754697856 1p31.1 1 70039035A> T null S C 1038 1038 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs754697856 1p31.1 1 70039035A> C null S R 1038 1038 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1205492200 1p31.1 1 70039042A> T null N I 1040 1040 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1297431971 1p31.1 1 70039044C> A null P T 1041 1041 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1309590415 1p31.1 1 70039047C> G null Q E 1042 1042 missense 0.917 probably damaging 0.45 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs772004165 1p31.1 1 70039056G> A null V M 1045 1045 missense 0.49 possibly damaging 0.28 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1266171023 1p31.1 1 70039068G> A null A T 1049 1049 missense 0.254 benign 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs770637610 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039071G> A null E K 1050 1050 missense 0.104 benign 0.11 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs776235344 1p31.1 1 70039078G> A null R K 1052 1052 missense 0.068 benign 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1442396943 1p31.1 1 70039080A> G null I V 1053 1053 missense 0.0 benign 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1465472619 1p31.1 1 70039084C> A null P Q 1054 1054 missense 0.003 benign 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1188705317 1p31.1 1 70039086C> T null P S 1055 1055 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs759946531 1p31.1 1 70039089C> G null P A 1056 1056 missense 0.0 benign 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs759946531 1p31.1 1 70039089C> A null P T 1056 1056 missense 0.049 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12069888 1p31.1 1 70039098C> T null H Y 1059 1059 0.009784 missense 0.053 benign 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs112709192 1p31.1 1 70039103T> A null N K 1060 1060 missense 0.242 benign 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs764600371 1p31.1 1 70039102A> G null N S 1060 1060 missense 0.098 benign 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs774628561 1p31.1 1 70039104C> A null P T 1061 1061 missense 0.0 benign 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139023629 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039114T> C null V A 1064 1064 missense 0.0 benign 0.18 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs370148025 1p31.1 1 70039113G> T null V L 1064 1064 missense 0.001 benign 0.18 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs370148025 1p31.1 1 70039113G> A null V M 1064 1064 missense 0.003 benign 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1293834287 1p31.1 1 70039122G> T null A S 1067 1067 missense 0.049 benign 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs764971514 1p31.1 1 70039123C> T null A V 1067 1067 missense 0.049 benign 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs758326913 1p31.1 1 70039137G> A null A T 1072 1072 missense 0.003 benign 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs777684992 1p31.1 1 70039140A> G null K E 1073 1073 missense 0.072 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs934477611 1p31.1 1 70039148G> T null L F 1075 1075 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs895924392 1p31.1 1 70039152A> T null S C 1077 1077 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs895924392 1p31.1 1 70039152A> G null S G 1077 1077 missense 0.974 probably damaging 0.15 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs780634419 1p31.1 1 70039156C> T null P L 1078 1078 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs745554902 1p31.1 1 70039158A> G null R G 1079 1079 missense 0.983 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1400989885 1p31.1 1 70039166C> G null Y * 1081 1081 stop gained 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs769425449 1p31.1 1 70039164T> C null Y H 1081 1081 missense 0.996 probably damaging 0.16 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs775728075 1p31.1 1 70039177C> T null P L 1085 1085 missense 0.185 benign 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs775728075 1p31.1 1 70039177C> G null P R 1085 1085 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377656393 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039180C> T null P L 1086 1086 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs377656393 1p31.1 1 70039180C> G null P R 1086 1086 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1005841908 1p31.1 1 70039179C> A null P T 1086 1086 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs200089251 1p31.1 1 70039183T> G null M R 1087 1087 2.0E-4 missense 0.122 benign 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs767725934 1p31.1 1 70039186A> G null E G 1088 1088 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs773385783 1p31.1 1 70039196T> A null F L 1091 1091 missense 0.02 benign 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs760811500 1p31.1 1 70039204C> T null S F 1094 1094 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1212112245 1p31.1 1 70039220T> A null N K 1099 1099 missense 0.049 benign 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs550787212 1p31.1 1 70039223G> C null E D 1100 1100 2.0E-4 missense 0.005 benign 0.2 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1485016207 1p31.1 1 70039225A> G null D G 1101 1101 missense 0.305 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1369594406 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039228C> T null A V 1102 1102 missense 0.006 benign 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs751522787 1p31.1 1 70039233G> A null V M 1104 1104 missense 0.005 benign 0.19 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs991508774 1p31.1 1 70039237A> G null N S 1105 1105 missense 0.0 benign 0.84 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC rs745329231 1p31.1 1 70039240C> A null A D 1106 1106 missense 0.997 probably damaging 0.2 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs757148771 1p31.1 1 70039239G> C null A P 1106 1106 missense 0.997 probably damaging 0.63 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs757148771 1p31.1 1 70039239G> A null A T 1106 1106 missense 0.994 probably damaging 0.61 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs961590038 1p31.1 1 70039242C> G null Q E 1107 1107 missense 0.043 benign 0.22 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC rs755776254 1p31.1 1 70039244G> T null Q H 1107 1107 missense 0.518 possibly damaging 0.15 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1310763445 1p31.1 1 70039243A> C null Q P 1107 1107 missense 0.0 benign 0.41 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC rs779747924 1p31.1 1 70039246T> G null F C 1108 1108 missense 0.787 possibly damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs769117658 1p31.1 1 70039247C> G null F L 1108 1108 missense 0.003 benign 0.13 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs769117658 1p31.1 1 70039247C> A null F L 1108 1108 missense 0.003 benign 0.13 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC rs779747924 1p31.1 1 70039246T> C null F S 1108 1108 missense 0.428 benign 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs199521356 1p31.1 1 70039249C> A null A E 1109 1109 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs772640586 1p31.1 1 70039248G> C null A P 1109 1109 missense 0.999 probably damaging 0.32 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs772640586 1p31.1 1 70039248G> T null A S 1109 1109 missense 0.995 probably damaging 0.55 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs772640586 1p31.1 1 70039248G> A null A T 1109 1109 missense 0.995 probably damaging 0.18 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1377041252 1p31.1 1 70039257G> T null G W 1112 1112 missense 0.939 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs776891779 1p31.1 1 70039260G> T null A S 1113 1113 missense 0.001 benign 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs776891779 1p31.1 1 70039260G> A null A T 1113 1113 missense 0.049 benign 0.11 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs570970804 1p31.1 1 70039261C> T null A V 1113 1113 2.0E-4 missense 0.049 benign 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs763909923 1p31.1 1 70039264G> A null R K 1114 1114 missense 0.958 probably damaging 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375269941 1p31.1 1 70039266G> A null A T 1115 1115 2.0E-4 missense 0.402 benign 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149601487 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039267C> T null A V 1115 1115 missense 0.417 benign 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs755616373 1p31.1 1 70039274C> A null F L 1117 1117 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs779619009 1p31.1 1 70039276T> C null L P 1118 1118 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1440012256 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039287G> A null D N 1122 1122 missense 0.995 probably damaging 0.4 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1230644733 1p31.1 1 70039294T> C null L P 1124 1124 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs779425542 1p31.1 1 70039299A> G null S G 1126 1126 missense 0.0 benign 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs748465593 1p31.1 1 70039300G> A null S N 1126 1126 missense 0.1 benign 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs144289156 1p31.1 1 70039302G> C null A P 1127 1127 missense 0.375 benign 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144289156 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039302G> A null A T 1127 1127 missense 0.077 benign 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,TOPMed rs370159835 1p31.1 1 70039303C> T null A V 1127 1127 missense 0.073 benign 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1420203568 1p31.1 1 70039305A> G null T A 1128 1128 missense 0.005 benign 0.24 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1411565263 1p31.1 1 70039310A> C null E D 1129 1129 missense 0.986 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs547137914 1p31.1 1 70039312T> C null M T 1130 1130 2.0E-4 missense 0.921 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs776536630 1p31.1 1 70039314G> A null A T 1131 1131 missense 0.994 probably damaging 0.15 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs566745532 1p31.1 1 70039317A> T null M L 1132 1132 7.99E-4 missense 0.007 benign 0.91 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1368998792 1p31.1 1 70039318T> C null M T 1132 1132 missense 0.033 benign 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs566745532 1p31.1 1 70039317A> G null M V 1132 1132 7.99E-4 missense 0.001 benign 0.14 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs777702829 1p31.1 1 70039326A> G null R G 1135 1135 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1271112593 1p31.1 1 70039327G> A null R K 1135 1135 missense 0.958 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs777702829 1p31.1 1 70039326A> T null R W 1135 1135 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs769950298 1p31.1 1 70039330T> C null V A 1136 1136 missense 0.001 benign 0.17 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1380381756 1p31.1 1 70039329G> C null V L 1136 1136 missense 0.098 benign 0.18 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs147424063 1p31.1 1 70039333A> G null N S 1137 1137 missense 0.0 benign 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1270339711 1p31.1 1 70039342A> G null H R 1140 1140 missense 0.079 benign 0.85 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs948785346 1p31.1 1 70039345A> G null E G 1141 1141 missense 0.349 benign 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs767478276 1p31.1 1 70039351C> T null P L 1143 1143 missense 0.049 benign 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs760477435 1p31.1 1 70039353C> G null P A 1144 1144 missense 0.0 benign 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs760477435 1p31.1 1 70039353C> T null P S 1144 1144 missense 0.026 benign 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1002764441 1p31.1 1 70039356A> G null T A 1145 1145 missense 0.007 benign 0.69 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs61734800 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039368G> A null G S 1149 1149 0.003395 missense 0.998 probably damaging 0.67 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed rs374397577 1p31.1 1 70039375C> T null P L 1151 1151 missense 0.107 benign 0.2 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs139513686 1p31.1 1 70039374C> T null P S 1151 1151 missense 0.073 benign 0.26 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs758814482 1p31.1 1 70039377C> G null P A 1152 1152 missense 0.0 benign 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs777951750 1p31.1 1 70039378C> T null P L 1152 1152 missense 0.049 benign 0.32 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs758814482 1p31.1 1 70039377C> T null P S 1152 1152 missense 0.03 benign 0.36 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs771278020 1p31.1 1 70039381A> G null Y C 1153 1153 missense 0.998 probably damaging 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs747585455 1p31.1 1 70039380T> C null Y H 1153 1153 missense 0.996 probably damaging 0.17 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs781350493 1p31.1 1 70039383A> G null R G 1154 1154 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs745938815 1p31.1 1 70039384G> A null R K 1154 1154 missense 0.958 probably damaging 0.16 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs770065143 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039398C> T null R C 1159 1159 missense 0.606 possibly damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs148814251 1p31.1 1 70039399G> A null R H 1159 1159 missense 0.534 possibly damaging 0.31 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs771920217 1p31.1 1 70039406C> G null S R 1161 1161 missense 0.226 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs921438582 1p31.1 1 70039410G> T null V F 1163 1163 missense 0.251 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs921438582 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039410G> A null V I 1163 1163 missense 0.001 benign 0.32 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1190710494 1p31.1 1 70039425T> C null S P 1168 1168 missense 0.0 benign 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1190710494 1p31.1 1 70039425T> A null S T 1168 1168 missense 0.033 benign 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1330227496 1p31.1 1 70039429A> G null Q R 1169 1169 missense 0.964 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs932838267 1p31.1 1 70039431T> C null F L 1170 1170 missense 0.035 benign 0.3 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs776261353 1p31.1 1 70039444A> G null N S 1174 1174 missense 0.591 possibly damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1461743494 1p31.1 1 70039446G> A null G S 1175 1175 missense 0.998 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl,dbSNP rs1135401780 1p31.1 1 70039454T> G null Y * 1177 1177 stop gained 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs759087323 1p31.1 1 70039452T> G null Y D 1177 1177 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs765031080 1p31.1 1 70039458G> T null D Y 1179 1179 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs764526691 1p31.1 1 70039466C> G null H Q 1181 1181 missense 0.226 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs758085443 1p31.1 1 70039465A> G null H R 1181 1181 missense 0.173 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs148128276 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039468C> T null P L 1182 1182 missense 0.842 possibly damaging 0.48 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1558016362 1p31.1 1 70039473T> C null Y H 1184 1184 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs757845149 1p31.1 1 70039476C> A null Q K 1185 1185 missense 0.647 possibly damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs781550038 1p31.1 1 70039486A> G null K R 1188 1188 missense 0.986 probably damaging 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs745984716 1p31.1 1 70039494G> A null A T 1191 1191 missense 0.313 benign 0.59 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs141951097 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p31.1 1 70039495C> T null A V 1191 1191 missense 0.408 benign 0.16 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs867278392 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039498G> A null G E 1192 1192 missense 0.999 probably damaging 0.25 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1468549165 1p31.1 1 70039500A> T null S C 1193 1193 missense 0.494 possibly damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1269514558 1p31.1 1 70039503T> C null F L 1194 1194 missense 0.974 probably damaging 0.44 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,NCI-TCGA,TOPMed,gnomAD rs372250538 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039507C> T null P L 1195 1195 missense 0.998 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs773071457 1p31.1 1 70039510T> C null V A 1196 1196 missense 0.0 benign 0.41 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1485995831 1p31.1 1 70039521A> G null T A 1200 1200 missense 0.986 probably damaging 0.17 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1558016545 1p31.1 1 70039552A> G null Y C 1210 1210 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1327055750 1p31.1 1 70039551T> C null Y H 1210 1210 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1182565343 1p31.1 1 70039558C> G null T R 1212 1212 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1391063102 1p31.1 1 70039564G> C null S T 1214 1214 missense 0.974 probably damaging 0.86 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs148653369 1p31.1 1 70039569G> A null G S 1216 1216 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,TOPMed,gnomAD rs202046491 1p31.1 1 70039572G> A null A T 1217 1217 missense 0.017 benign 0.47 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1436909366 1p31.1 1 70039596G> A null A T 1225 1225 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs762683462 1p31.1 1 70039608A> G null M V 1229 1229 missense 0.739 possibly damaging 0.37 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs763644949 1p31.1 1 70039611G> A null A T 1230 1230 missense 0.994 probably damaging 0.27 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs752032344 1p31.1 1 70039615C> G null A G 1231 1231 missense 0.991 probably damaging 0.11 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs757527693 1p31.1 1 70039617C> G null L V 1232 1232 missense 0.986 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs76093943 1p31.1 1 70039622G> T null L F 1233 1233 missense 0.996 probably damaging 0.14 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1308335529 1p31.1 1 70039631A> G null I M 1236 1236 missense 0.203 benign 0.39 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1558016730 1p31.1 1 70039636C> G null S C 1238 1238 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1236131260 1p31.1 1 70039635T> C null S P 1238 1238 missense 0.987 probably damaging 0.18 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1278139301 1p31.1 1 70039645A> C null N T 1241 1241 missense 0.001 benign 0.19 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs780110140 1p31.1 1 70039650G> C null G R 1243 1243 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs780110140 1p31.1 1 70039650G> A null G S 1243 1243 missense 0.904 possibly damaging 0.51 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1252753638 1p31.1 1 70039653A> T null N Y 1244 1244 missense 0.968 probably damaging 1.0 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs749307728 1p31.1 1 70039657A> G null Y C 1245 1245 missense 0.998 probably damaging 0.24 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1178276601 1p31.1 1 70039675A> G null D G 1251 1251 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs924273526 1p31.1 1 70039681G> A null S N 1253 1253 missense 0.1 benign 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1455880175 1p31.1 1 70039680A> C null S R 1253 1253 missense 0.424 benign 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs778998569 1p31.1 1 70039693C> T null T M 1257 1257 missense 0.977 probably damaging 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs778998569 1p31.1 1 70039693C> G null T R 1257 1257 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC rs770654648 1p31.1 1 70039701A> G null T A 1260 1260 missense 0.001 benign 0.4 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1298317361 1p31.1 1 70039702C> T null T I 1260 1260 missense 0.155 benign 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs781096559 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039705C> T null P L 1261 1261 missense 0.997 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1328769682 1p31.1 1 70039712G> C null K N 1263 1263 missense 0.993 probably damaging 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1371220914 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039717A> G null E G 1265 1265 missense 0.991 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375210814 1p31.1 1 70039736G> A null M I 1271 1271 2.0E-4 missense 0.827 possibly damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1298886500 1p31.1 1 70039750G> A null R K 1276 1276 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs768399344 1p31.1 1 70039774A> C null E A 1284 1284 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs768399344 1p31.1 1 70039774A> T null E V 1284 1284 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs773848392 1p31.1 1 70039777C> T null A V 1285 1285 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,TOPMed,gnomAD rs143979484 1p31.1 1 70039783G> A null R Q 1287 1287 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1198046235 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70039782C> T null R W 1287 1287 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs965374957 1p31.1 1 70039786T> C null L S 1288 1288 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs976739887 1p31.1 1 70039791A> G null R G 1290 1290 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs984984641 1p31.1 1 70053027C> A null T N 1291 1291 missense 0.068 benign 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs780006267 1p31.1 1 70053030C> T null P L 1292 1292 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs764464505 1p31.1 1 70053045A> T null N I 1297 1297 missense 0.994 probably damaging 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs764464505 1p31.1 1 70053045A> G null N S 1297 1297 missense 0.969 probably damaging 0.69 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs766088309 1p31.1 1 70053055C> G null D E 1300 1300 missense 0.98 probably damaging 0.17 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs757510588 1p31.1 1 70053053G> A null D N 1300 1300 missense 0.987 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs757510588 1p31.1 1 70053053G> T null D Y 1300 1300 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,TOPMed rs559080242 1p31.1 1 70053057A> G null N S 1301 1301 2.0E-4 missense 0.969 probably damaging 0.16 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs754926067 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70053059G> A null G R 1302 1302 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs778903265 1p31.1 1 70053063A> G null Q R 1303 1303 missense 0.922 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs757882298 1p31.1 1 70053069A> T null D V 1305 1305 missense 0.996 probably damaging 0.26 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1274250121 1p31.1 1 70053078C> T null P L 1308 1308 missense 0.935 probably damaging 0.75 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1274250121 1p31.1 1 70053078C> G null P R 1308 1308 missense 0.986 probably damaging 0.46 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1199938627 1p31.1 1 70053080A> G null S G 1309 1309 missense 0.943 probably damaging 0.22 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1558029238 1p31.1 1 70053084G> A null G D 1310 1310 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs776919531 1p31.1 1 70053083G> A null G S 1310 1310 missense 0.82 possibly damaging 0.44 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1194067843 1p31.1 1 70053096C> A null P H 1314 1314 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs746242327 1p31.1 1 70053099A> T null Y F 1315 1315 missense 0.969 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ESP,ExAC,gnomAD rs143357509 1p31.1 1 70053104C> T null L F 1317 1317 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs764297008 1p31.1 1 70053114G> A null R Q 1320 1320 missense 0.964 probably damaging 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs763509973 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p31.1 1 70053113C> T null R W 1320 1320 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1168596136 1p31.1 1 70053116G> C null D H 1321 1321 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1329722559 1p31.1 1 70053132C> A null T N 1326 1326 missense 0.985 probably damaging 0.92 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs753644380 1p31.1 1 70053135T> C null I T 1327 1327 missense 0.127 benign 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1271316680 1p31.1 1 70053140A> G null K E 1329 1329 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1339289844 1p31.1 1 70076077G> A null A T 1331 1331 missense 0.012 benign 0.05 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs774634401 1p31.1 1 70076078C> T null A V 1331 1331 missense 0.294 benign 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC rs761981927 1p31.1 1 70076080G> A null G S 1332 1332 missense 0.997 probably damaging 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1353798956 1p31.1 1 70076090T> G null I S 1335 1335 missense 0.964 probably damaging 0.62 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs951900790 1p31.1 1 70076096C> A null T K 1337 1337 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs765085458 1p31.1 1 70076123A> G null H R 1346 1346 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs752431101 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70076125C> T null R C 1347 1347 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs762934778 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70076126G> A null R H 1347 1347 missense 0.993 probably damaging 0.15 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1472571531 1p31.1 1 70076132G> A null R Q 1349 1349 missense 0.975 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1024729333 1p31.1 1 70076131C> T null R W 1349 1349 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs751107645 1p31.1 1 70076134G> A null E K 1350 1350 missense 0.979 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs751107645 1p31.1 1 70076134G> C null E Q 1350 1350 missense 0.986 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs780516582 1p31.1 1 70076139G> T null Q H 1351 1351 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs756766847 1p31.1 1 70076138A> T null Q L 1351 1351 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1433750721 1p31.1 1 70076141A> G null Q R 1352 1352 missense 0.946 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1376546849 1p31.1 1 70076144C> T null P L 1353 1353 missense 0.358 benign 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1376546849 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70076144C> A null P Q 1353 1353 missense 0.057 benign 0.4 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs755659746 1p31.1 1 70076149G> A null E K 1355 1355 missense 0.981 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl,NCI-TCGA rs267598708 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70076153G> A null G E 1356 1356 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs780581912 1p31.1 1 70076158A> C null I L 1358 1358 missense 0.017 benign 0.21 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs769355251 1p31.1 1 70076173A> G null I V 1363 1363 missense 0.91 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs772065026 1p31.1 1 70076177A> G null Q R 1364 1364 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1279713803 1p31.1 1 70076179C> A null Q K 1365 1365 missense 0.959 probably damaging 0.15 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1484870539 1p31.1 1 70076180A> G null Q R 1365 1365 missense 0.974 probably damaging 0.18 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs879037252 1p31.1 1 70076183T> C null F S 1366 1366 missense 0.988 probably damaging 0.31 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs760964105 1p31.1 1 70076200A> G null I V 1372 1372 missense 0.811 possibly damaging 0.54 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1302763966 1p31.1 1 70076204A> T null Q L 1373 1373 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs762703382 1p31.1 1 70076213C> G null S C 1376 1376 missense 0.997 probably damaging 0.17 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1240184272 1p31.1 1 70076221G> T null A S 1379 1379 missense 0.019 benign 0.94 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs931828859 1p31.1 1 70076222C> T null A V 1379 1379 missense 0.073 benign 0.21 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs751516677 1p31.1 1 70076224A> G null T A 1380 1380 missense 0.011 benign 0.48 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs573192198 1p31.1 1 70076228G> A null R Q 1381 1381 2.0E-4 missense 0.976 probably damaging 0.43 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs199872098 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70076227C> T null R W 1381 1381 2.0E-4 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs778300251 1p31.1 1 70076233C> T null P S 1383 1383 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC rs749849077 1p31.1 1 70076239C> G null P A 1385 1385 missense 0.665 possibly damaging 0.1 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1359099436 1p31.1 1 70076240C> G null P R 1385 1385 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,gnomAD rs186142931 1p31.1 1 70076246G> A null R Q 1387 1387 2.0E-4 missense 0.991 probably damaging 0.08 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs755856495 1p31.1 1 70076245C> T null R W 1387 1387 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 1000Genomes,ExAC,TOPMed,gnomAD rs561506790 1p31.1 1 70076266G> T null G W 1394 1394 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1378589765 1p31.1 1 70076270A> C null Q P 1395 1395 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs755373930 1p31.1 1 70076278A> G null M V 1398 1398 missense 0.802 possibly damaging 0.39 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs867288118 1p31.1 1 70076291C> T null P L 1402 1402 missense 0.937 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs772849551 1p31.1 1 70089744A> C null E D 1410 1410 missense 0.839 possibly damaging 0.09 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs760074898 1p31.1 1 70089746A> G null K R 1411 1411 missense 0.992 probably damaging 0.06 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1198269499 1p31.1 1 70089769A> G null I V 1419 1419 missense 0.924 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1273977522 1p31.1 1 70089772A> G null S G 1420 1420 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs925060864 1p31.1 1 70089776G> T null G V 1421 1421 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs765701072 1p31.1 1 70089786T> A null S R 1424 1424 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1249513428 1p31.1 1 70089793G> A null G R 1427 1427 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1208381477 1p31.1 1 70089800C> T null P L 1429 1429 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1558059721 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70089804C> A null F L 1430 1430 missense 0.986 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1434292892 1p31.1 1 70107761G> A null V I 1439 1439 missense 0.981 probably damaging 0.19 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1265218681 1p31.1 1 70107776C> T null P S 1444 1444 missense 0.992 probably damaging 0.07 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1486510325 1p31.1 1 70107779G> T null D Y 1445 1445 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs772089732 1p31.1 1 70107791T> A null S T 1449 1449 missense 0.102 benign 0.05 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs750492635 1p31.1 1 70121784A> G null N S 1462 1462 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1378446369 1p31.1 1 70121790A> G null H R 1464 1464 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1419013668 1p31.1 1 70121798G> A null V I 1467 1467 missense 0.264 benign 0.53 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1419013668 1p31.1 1 70121798G> C null V L 1467 1467 missense 0.062 benign 0.6 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1176949403 1p31.1 1 70121802A> G null H R 1468 1468 missense 0.798 possibly damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,gnomAD rs748027043 1p31.1 1 70121819G> T null A S 1474 1474 missense 0.355 benign 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1307529811 1p31.1 1 70121834A> G null K E 1479 1479 missense 0.845 possibly damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 gnomAD rs1376888559 1p31.1 1 70121844A> C null Q P 1482 1482 missense 0.305 benign 0.38 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs771786861 1p31.1 1 70121850C> T null T I 1484 1484 missense 0.651 possibly damaging 0.01 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1403507063 1p31.1 1 70121861G> A null V I 1488 1488 missense 0.808 possibly damaging 0.59 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed rs1335655794 1p31.1 1 70121868A> G null Q R 1490 1490 missense 0.962 probably damaging 0.4 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs909071809 1p31.1 1 70121870C> T null R C 1491 1491 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,TOPMed,gnomAD rs777585848 1p31.1 1 70121876C> T null L F 1493 1493 missense 0.984 probably damaging 0.03 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC,NCI-TCGA,gnomAD rs746947342 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p31.1 1 70121877T> C null L P 1493 1493 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 ExAC rs770935518 1p31.1 1 70121879A> T null T S 1494 1494 missense 0.73 possibly damaging 0.56 tolerated 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 TOPMed,gnomAD rs1457908067 1p31.1 1 70121883T> C null V A 1495 1495 missense 0.961 probably damaging 0.29 tolerated - low confidence 0 A0A075B6E9 LRRC7 Leucine-rich repeat-containing protein 7 Ensembl rs1558086573 1p31.1 1 70121882_70121885de l null V K 1495 1495 stop lost 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1045087823 19q13.33 19 47555843C> T null S N 5 5 missense 0.157 benign 0.36 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1011386815 19q13.33 19 47555833G> C null D E 8 8 missense 0.035 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1202719856 19q13.33 19 47555835C> A null D Y 8 8 missense 0.831 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,TOPMed,gnomAD rs535443562 19q13.33 19 47555832C> T null E K 9 9 2.0E-4 missense 0.051 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1187089718 19q13.33 19 47555831T> A null E V 9 9 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1486797621 19q13.33 19 47555829C> T null G S 10 10 missense 0.063 benign 0.22 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs991215110 19q13.33 19 47555828C> A null G V 10 10 missense 0.843 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1425593523 19q13.33 19 47555823G> A null L F 12 12 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1486513708 19q13.33 19 47555814C> G null E Q 15 15 missense 0.36 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1343756756 19q13.33 19 47555810A> G null M T 16 16 missense 0.0 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs867980428 19q13.33 19 47555811T> C null M V 16 16 missense 0.0 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed rs764429000 19q13.33 19 47555806G> C null H Q 17 17 missense 0.022 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1323545413 19q13.33 19 47555801G> A null P L 19 19 missense 0.079 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs566557215 19q13.33 19 47555796A> T null F I 21 21 5.99E-4 missense 0.246 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs772370329 19q13.33 19 47555793A> C null S A 22 22 missense 0.137 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes rs553603173 19q13.33 19 47555792G> A null S L 22 22 2.0E-4 missense 0.518 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs920244269 19q13.33 19 47555790C> A null E * 23 23 stop gained 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1306163441 19q13.33 19 47555785G> C null S R 24 24 missense 0.386 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs745973883 19q13.33 19 47555781C> G null G R 26 26 missense 0.483 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1335246973 19q13.33 19 47555773G> T null N K 28 28 missense 0.001 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs910181094 19q13.33 19 47555774T> C null N S 28 28 missense 0.003 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,NCI-TCGA,gnomAD rs368317942 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.33 19 47555766C> T null D N 31 31 5.99E-4 missense 0.996 probably damaging 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs962989474 19q13.33 19 47555762G> T null T N 32 32 missense 0.462 possibly damaging 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1004390063 19q13.33 19 47555753C> T null R Q 35 35 missense 0.815 possibly damaging 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1016209821 19q13.33 19 47555754G> A null R W 35 35 missense 0.103 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1430010157 19q13.33 19 47555751C> T null D N 36 36 missense 0.859 possibly damaging 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147774355 19q13.33 19 47555745C> G null G R 38 38 5.99E-4 missense 0.936 probably damaging 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1182855430 19q13.33 19 47555744C> A null G V 38 38 missense 0.734 possibly damaging 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1244413373 19q13.33 19 47555741G> C null P R 39 39 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1445425519 19q13.33 19 47555742G> A null P S 39 39 missense 0.997 probably damaging 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs971861438 19q13.33 19 47555737G> C null N K 40 40 missense 0.026 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ESP,TOPMed,gnomAD rs201997465 19q13.33 19 47555735G> A null T M 41 41 missense 0.026 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,NCI-TCGA,gnomAD rs779706025 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:375,cosmic_study:419 19q13.33 19 47555732C> T null R Q 42 42 missense 0.205 benign 0.08 tolerated 1 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1463594713 19q13.33 19 47555727A> G null F L 44 44 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1344697562 19q13.33 19 47555717G> C null A G 47 47 missense 0.003 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1313595225 19q13.33 19 47555705C> G null G A 51 51 missense 0.079 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1313595225 19q13.33 19 47555705C> T null G D 51 51 missense 0.006 benign 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144244907 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47555696G> A null P L 54 54 0.001597 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs899869176 19q13.33 19 47555697G> A null P S 54 54 missense 0.0 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1313935805 19q13.33 19 47555693T> C null D G 55 55 missense 0.859 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1246190192 19q13.33 19 47555694C> A null D Y 55 55 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1356554742 19q13.33 19 47555688T> C null S G 57 57 missense 0.006 benign 0.25 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1024039932 19q13.33 19 47555686G> C null S R 57 57 missense 0.564 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs778232109 19q13.33 19 47555685G> A null L F 58 58 missense 0.088 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1298899283 19q13.33 19 47555681G> A null P L 59 59 missense 0.212 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1480252260 19q13.33 19 47555679T> C null T A 60 60 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370590971 19q13.33 19 47555678G> T null T K 60 60 2.0E-4 missense 0.001 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370590971 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47555678G> A null T M 60 60 2.0E-4 missense 0.01 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1237573198 19q13.33 19 47555668C> G null M I 63 63 missense 0.003 benign 0.49 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1162896064 19q13.33 19 47555670T> C null M V 63 63 missense 0.0 benign 0.75 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1183150022 19q13.33 19 47555661C> T null E K 66 66 missense 0.771 possibly damaging 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1383613572 19q13.33 19 47555658C> G null V L 67 67 missense 0.024 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1430579059 19q13.33 19 47555655G> C null L V 68 68 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1179053903 19q13.33 19 47555649C> T null D N 70 70 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs903109847 19q13.33 19 47555646T> C null N D 71 71 missense 0.994 probably damaging 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1568513762 19q13.33 19 47555645T> C null N S 71 71 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1250828457 19q13.33 19 47555636G> A null T I 74 74 missense 0.299 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs917059785 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47555619C> T null G R 80 80 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1267679554 19q13.33 19 47555608A> T null S R 83 83 missense 0.003 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC rs759774115 19q13.33 19 47555591A> C null L R 89 89 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1376494835 19q13.33 19 47555586C> G null E Q 91 91 missense 0.96 probably damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1343459685 19q13.33 19 47555585T> A null E V 91 91 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1041247727 19q13.33 19 47555582T> C null Y C 92 92 missense 0.003 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1050501381 19q13.33 19 47555579G> T null A E 93 93 missense 0.462 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,NCI-TCGA,TOPMed,gnomAD rs377098313 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary cosmic_study:585 19q13.33 19 47555580C> T null A T 93 93 missense 0.01 benign 0.65 tolerated 1 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1050501381 19q13.33 19 47555579G> A null A V 93 93 missense 0.009 benign 0.16 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs770983546 19q13.33 19 47555573G> A null S L 95 95 missense 0.0 benign 0.35 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,TOPMed rs543995994 19q13.33 19 47555567G> C null S C 97 97 2.0E-4 missense 0.751 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,TOPMed rs543995994 19q13.33 19 47555567G> A null S F 97 97 2.0E-4 missense 0.751 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1330675264 19q13.33 19 47555563C> G null Q H 98 98 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1183602101 19q13.33 19 47555564T> A null Q L 98 98 missense 0.879 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1187358977 19q13.33 19 47555552T> C null Q R 102 102 missense 0.216 benign 0.28 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1380219775 19q13.33 19 47549480C> T null G R 105 105 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1188557022 19q13.33 19 47549479C> A null G V 105 105 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1428177837 19q13.33 19 47549458T> G null K T 112 112 missense 0.089 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1176637045 19q13.33 19 47549449T> C null D G 115 115 missense 0.014 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1177745973 19q13.33 19 47549446T> G null E A 116 116 missense 0.037 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs868472215 19q13.33 19 47549447C> T null E K 116 116 missense 0.001 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1568507443 19q13.33 19 47549443C> T null G E 117 117 missense 0.568 possibly damaging 0.24 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1191726660 19q13.33 19 47549444C> T null G R 117 117 missense 0.044 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1367189016 19q13.33 19 47549441C> G null G R 118 118 missense 0.774 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,gnomAD rs571350245 19q13.33 19 47549435C> T null A T 120 120 2.0E-4 missense 0.188 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs756763958 19q13.33 19 47549434G> A null A V 120 120 missense 0.014 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1273811189 19q13.33 19 47549431G> A null T I 121 121 missense 0.12 benign 0.2 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1224325813 19q13.33 19 47549428G> A null S L 122 122 missense 0.141 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1268187576 19q13.33 19 47549422C> T null S N 124 124 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1226688622 19q13.33 19 47549420C> G null A P 125 125 missense 0.353 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1279557005 19q13.33 19 47549413T> C null K R 127 127 missense 0.011 benign 0.37 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1322399567 19q13.33 19 47549407T> G null K T 129 129 missense 0.544 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1404663130 19q13.33 19 47549404C> T null R Q 130 130 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1449858181 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19q13.33 19 47549405G> A null R W 130 130 missense 0.993 probably damaging 0.0 deleterious 1 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs924280237 19q13.33 19 47549397G> C null H Q 132 132 missense 0.047 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1055595913 19q13.33 19 47549395C> T null S N 133 133 missense 0.001 benign 0.19 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1568507220 19q13.33 19 47549392G> C null S C 134 134 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs753336272 19q13.33 19 47549389G> A null P L 135 135 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1166511988 19q13.33 19 47549380G> A null P L 138 138 missense 0.154 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs898491325 19q13.33 19 47549370G> C null D E 141 141 missense 0.912 probably damaging 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,gnomAD rs182509783 19q13.33 19 47549369A> G null C R 142 142 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1479185046 19q13.33 19 47549365C> T null S N 143 143 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs910369680 19q13.33 19 47549359C> T null C Y 145 145 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs148071479 19q13.33 19 47549357C> T null G R 146 146 9.98E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1238054474 19q13.33 19 47549346G> C null F L 149 149 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1204617160 19q13.33 19 47549345T> C null S G 150 150 missense 0.0 benign 0.16 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1317517167 19q13.33 19 47549344C> T null S N 150 150 missense 0.346 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ESP,ExAC,TOPMed,gnomAD rs371719667 19q13.33 19 47549339C> T null A T 152 152 missense 0.179 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,gnomAD rs531297805 19q13.33 19 47549338G> A null A V 152 152 5.99E-4 missense 0.714 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1339767848 19q13.33 19 47549318A> T null Y N 159 159 missense 0.999 probably damaging 0.2 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1275240105 19q13.33 19 47549292C> G null K N 167 167 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs549210823 19q13.33 19 47549288C> A null V F 169 169 2.0E-4 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs549210823 19q13.33 19 47549288C> T null V I 169 169 2.0E-4 missense 0.164 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,gnomAD rs529169129 19q13.33 19 47549277G> C null I M 172 172 2.0E-4 missense 0.867 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1329892598 19q13.33 19 47549272C> G null S T 174 174 missense 0.926 probably damaging 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs972392103 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47549258G> A null R C 179 179 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1352405704 19q13.33 19 47549257C> T null R H 179 179 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs762966420 19q13.33 19 47549246G> T null L M 183 183 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1423060765 19q13.33 19 47545972T> G null H P 186 186 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1365527088 19q13.33 19 47545970T> C null M V 187 187 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs760553383 19q13.33 19 47545966A> T null L H 188 188 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1405844385 19q13.33 19 47545940C> T null V M 197 197 missense 0.999 probably damaging 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1158257716 19q13.33 19 47545936C> T null C Y 198 198 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1316538643 19q13.33 19 47545932G> C null I M 199 199 missense 0.899 possibly damaging 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1021792812 19q13.33 19 47545934T> C null I V 199 199 missense 0.026 benign 0.24 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs750537607 19q13.33 19 47545931C> T null E K 200 200 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs750537607 19q13.33 19 47545931C> G null E Q 200 200 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1050805731 19q13.33 19 47545924C> T null G D 202 202 missense 1.0 probably damaging 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs140680651 19q13.33 19 47545918C> G null S T 204 204 0.009784 missense 0.634 possibly damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1568503694 19q13.33 19 47545910A> T null Y N 207 207 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1179639502 19q13.33 19 47545900T> C null Y C 210 210 missense 0.992 probably damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1282928022 19q13.33 19 47545898G> A null R C 211 211 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1224060392 19q13.33 19 47545897C> T null R H 211 211 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1330780150 19q13.33 19 47545894G> C null S C 212 212 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1238024849 19q13.33 19 47545888C> T null R H 214 214 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1280912247 19q13.33 19 47545868G> T null H N 221 221 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1345234788 19q13.33 19 47545865C> T null G S 222 222 missense 0.762 possibly damaging 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1294666526 19q13.33 19 47545862G> C null L V 223 223 missense 0.026 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs773895263 19q13.33 19 47545847C> T null E K 228 228 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1369646354 19q13.33 19 47545844C> T null A T 229 229 missense 0.021 benign 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs539027617 19q13.33 19 47545841G> C null P A 230 230 0.003195 missense 0.283 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs539027617 19q13.33 19 47545841G> A null P S 230 230 0.003195 missense 0.355 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1480011052 19q13.33 19 47545838G> C null P A 231 231 missense 0.001 benign 0.34 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs748751439 19q13.33 19 47545837G> A null P L 231 231 missense 0.003 benign 0.39 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1480011052 19q13.33 19 47545838G> A null P S 231 231 missense 0.06 benign 0.29 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1480011052 19q13.33 19 47545838G> T null P T 231 231 missense 0.082 benign 0.26 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1192911410 19q13.33 19 47545831T> G null E A 233 233 missense 0.321 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1484851468 19q13.33 19 47545829C> T null E K 234 234 missense 0.516 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs905855109 19q13.33 19 47545825G> T null A D 235 235 missense 0.224 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1389867729 19q13.33 19 47545826C> T null A T 235 235 missense 0.007 benign 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs748731735 19q13.33 19 47545821G> C null C W 236 236 missense 0.589 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs951495196 19q13.33 19 47545820C> T null G R 237 237 missense 0.031 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1260906192 19q13.33 19 47545817C> G null D H 238 238 missense 0.671 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1024358039 19q13.33 19 47545813G> A null S F 239 239 missense 0.05 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1302394811 19q13.33 19 47545808G> T null H N 241 241 missense 0.107 benign 0.22 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1302394811 19q13.33 19 47545808G> A null H Y 241 241 missense 0.001 benign 0.7 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs941945743 19q13.33 19 47545805C> G null A P 242 242 missense 0.0 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs543362890 19q13.33 19 47545797C> A null E D 244 244 missense 0.005 benign 0.62 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1469471280 19q13.33 19 47545793C> A null A S 246 246 missense 0.007 benign 0.15 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,gnomAD rs570136107 19q13.33 19 47545790C> T null G S 247 247 2.0E-4 missense 0.0 benign 0.84 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1257846244 19q13.33 19 47545787G> C null Q E 248 248 missense 0.018 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs751903947 19q13.33 19 47545783G> A null P L 249 249 missense 0.001 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs751903947 19q13.33 19 47545783G> C null P R 249 249 missense 0.26 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs111426088 19q13.33 19 47545780G> A null P L 250 250 missense 0.0 benign 0.3 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1034535647 19q13.33 19 47545781G> A null P S 250 250 missense 0.0 benign 0.64 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs766544407 19q13.33 19 47545778G> A null P S 251 251 missense 0.196 benign 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1487978047 19q13.33 19 47545775T> C null S G 252 252 missense 0.003 benign 0.58 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1286867809 19q13.33 19 47545773G> T null S R 252 252 missense 0.282 benign 0.15 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1450842304 19q13.33 19 47545771C> G null S T 253 253 missense 0.111 benign 0.35 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1353655871 19q13.33 19 47545765C> T null R Q 255 255 missense 0.537 possibly damaging 0.15 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1218941143 19q13.33 19 47545757C> T null V M 258 258 missense 0.033 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1212697523 19q13.33 19 47545753G> A null P L 259 259 missense 0.521 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1212697523 19q13.33 19 47545753G> C null P R 259 259 missense 0.621 possibly damaging 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1257322980 19q13.33 19 47545754G> T null P T 259 259 missense 0.254 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1306077405 19q13.33 19 47545748C> T null E K 261 261 missense 0.991 probably damaging 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1306077405 19q13.33 19 47545748C> G null E Q 261 261 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1229761288 19q13.33 19 47545745C> T null A T 262 262 missense 0.021 benign 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1000439402 19q13.33 19 47545744G> A null A V 262 262 missense 0.196 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1367514545 19q13.33 19 47545741C> T null R K 263 263 missense 0.079 benign 0.22 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1367514545 19q13.33 19 47545741C> A null R M 263 263 missense 0.707 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1304761015 19q13.33 19 47545733C> A null G C 266 266 missense 0.792 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1304761015 19q13.33 19 47545733C> T null G S 266 266 missense 0.006 benign 0.28 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs575921745 19q13.33 19 47545729G> A null S F 267 267 missense 0.017 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1460306640 19q13.33 19 47545730A> G null S P 267 267 missense 0.548 possibly damaging 0.27 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1382921764 19q13.33 19 47545720G> A null P L 270 270 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1182446632 19q13.33 19 47545718G> T null H N 271 271 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1423828429 19q13.33 19 47545717T> C null H R 271 271 missense 0.015 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs923061330 19q13.33 19 47545714C> T null R Q 272 272 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1257860666 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.33 19 47545715G> A null R W 272 272 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1479885984 19q13.33 19 47545708A> G null L P 274 274 missense 0.909 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs976221419 19q13.33 19 47545705A> G null L P 275 275 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1209754676 19q13.33 19 47545706G> C null L V 275 275 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1254741809 19q13.33 19 47545703G> A null R C 276 276 missense 0.972 probably damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1344943069 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19q13.33 19 47545699C> T null R H 277 277 missense 0.2 benign 0.04 deleterious 1 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs943071635 19q13.33 19 47545694C> A null V L 279 279 missense 0.221 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs943071635 19q13.33 19 47545694C> T null V M 279 279 missense 0.14 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1194245384 19q13.33 19 47545690C> A null S I 280 280 missense 0.785 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1341102084 19q13.33 19 47545688T> C null S G 281 281 missense 0.978 probably damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1315159359 19q13.33 19 47545681A> C null V G 283 283 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs776558489 19q13.33 19 47545682C> T null V I 283 283 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1378033155 19q13.33 19 47545676G> C null Q E 285 285 missense 0.138 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1043395793 19q13.33 19 47545671C> A null K N 286 286 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1372427128 19q13.33 19 47545669G> A null T I 287 287 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1411362105 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47545666G> A null P L 288 288 missense 0.07 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1308410624 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47545667G> A null P S 288 288 missense 0.007 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs113816177 19q13.33 19 47545661G> C null P A 290 290 missense 0.023 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs113816177 19q13.33 19 47545661G> A null P S 290 290 missense 0.037 benign 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1418144673 19q13.33 19 47545648G> C null P R 294 294 missense 0.067 benign 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1156564314 19q13.33 19 47545649G> A null P S 294 294 missense 0.003 benign 0.39 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146808728 19q13.33 19 47545643C> A null G W 296 296 0.005391 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1050771382 19q13.33 19 47545640C> A null A S 297 297 missense 0.001 benign 0.2 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1050771382 19q13.33 19 47545640C> T null A T 297 297 missense 0.027 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1302373159 19q13.33 19 47545632G> C null D E 299 299 missense 0.011 benign 0.3 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1021845306 19q13.33 19 47545633T> C null D G 299 299 missense 0.516 possibly damaging 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs989011938 19q13.33 19 47545625C> T null G R 302 302 missense 0.621 possibly damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1357197200 19q13.33 19 47545620C> A null R S 303 303 missense 0.015 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1568502670 19q13.33 19 47545615G> C null T S 305 305 missense 0.0 benign 0.98 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs933758599 19q13.33 19 47545612G> C null A G 306 306 missense 0.24 benign 0.15 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1267293417 19q13.33 19 47545613C> A null A S 306 306 missense 0.14 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1267293417 19q13.33 19 47545613C> T null A T 306 306 missense 0.014 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs921075512 19q13.33 19 47545609C> A null C F 307 307 missense 0.185 benign 0.35 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs775451409 19q13.33 19 47545610A> G null C R 307 307 missense 0.506 possibly damaging 0.29 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1215899418 19q13.33 19 47545608A> C null C W 307 307 missense 0.58 possibly damaging 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1264237105 19q13.33 19 47545601G> C null P A 310 310 missense 0.001 benign 0.31 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs767390309 19q13.33 19 47545598C> T null A T 311 311 missense 0.0 benign 0.56 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs759279382 19q13.33 19 47545591G> A null S L 313 313 missense 0.0 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,TOPMed rs568307609 19q13.33 19 47545588C> T null G E 314 314 3.99E-4 missense 0.726 possibly damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1453610919 19q13.33 19 47545583A> C null S A 316 316 missense 0.001 benign 0.88 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs982723845 19q13.33 19 47545573G> T null T N 319 319 missense 0.421 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1035803056 19q13.33 19 47545574T> G null T P 319 319 missense 0.691 possibly damaging 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1452358558 19q13.33 19 47545571G> C null P A 320 320 missense 0.001 benign 0.34 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs774127541 19q13.33 19 47545564C> T null G D 322 322 missense 0.0 benign 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs774127541 19q13.33 19 47545564C> A null G V 322 322 missense 0.017 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1343548663 19q13.33 19 47545561G> A null P L 323 323 missense 0.001 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1427607150 19q13.33 19 47545562G> A null P S 323 323 missense 0.0 benign 0.43 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1452692447 19q13.33 19 47545557G> C null H Q 324 324 missense 0.015 benign 0.26 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1452692447 19q13.33 19 47545557G> T null H Q 324 324 missense 0.015 benign 0.26 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs770501381 19q13.33 19 47545558T> C null H R 324 324 missense 0.005 benign 0.29 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1270017132 19q13.33 19 47545556C> T null A T 325 325 missense 0.0 benign 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1203484795 19q13.33 19 47545553C> A null A S 326 326 missense 0.081 benign 0.51 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1269045925 19q13.33 19 47545549G> A null P L 327 327 missense 0.0 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1464462116 19q13.33 19 47545550G> A null P S 327 327 missense 0.001 benign 0.29 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1230429139 19q13.33 19 47545547C> T null A T 328 328 missense 0.056 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs548354002 19q13.33 19 47545546G> A null A V 328 328 5.99E-4 missense 0.001 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1233615784 19q13.33 19 47545538C> T null D N 331 331 missense 0.027 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes rs566156663 19q13.33 19 47545523C> T null E K 336 336 2.0E-4 missense 0.04 benign 0.22 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs769469428 19q13.33 19 47545520C> T null E K 337 337 missense 0.326 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1006140402 19q13.33 19 47545517G> C null P A 338 338 missense 0.079 benign 0.26 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1006140402 19q13.33 19 47545517G> A null P S 338 338 missense 0.011 benign 0.24 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1323926248 19q13.33 19 47545508G> A null P S 341 341 missense 0.005 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1467822170 19q13.33 19 47545504T> C null Q R 342 342 missense 0.0 benign 0.86 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1404452323 19q13.33 19 47545496G> C null P A 345 345 missense 0.001 benign 0.35 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1415824591 19q13.33 19 47545495G> T null P Q 345 345 missense 0.619 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1239846873 19q13.33 19 47545493C> T null A T 346 346 missense 0.081 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1470615667 19q13.33 19 47545483A> G null V A 349 349 missense 0.0 benign 0.19 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1478529421 19q13.33 19 47545481A> C null F V 350 350 missense 0.086 benign 0.25 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1176884695 19q13.33 19 47545474G> A null A V 352 352 missense 0.001 benign 0.27 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs781770536 19q13.33 19 47545472G> A null P S 353 353 missense 0.0 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs887716462 19q13.33 19 47545462C> G null R T 356 356 missense 0.107 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1048079899 19q13.33 19 47545452C> G null E D 359 359 missense 0.396 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1339419195 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.33 19 47545453T> C null E G 359 359 missense 0.012 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1248699638 19q13.33 19 47545454C> T null E K 359 359 missense 0.493 possibly damaging 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1000810372 19q13.33 19 47545448C> T null G S 361 361 missense 0.0 benign 0.85 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs755503767 19q13.33 19 47545444G> C null A G 362 362 missense 0.0 benign 0.91 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs755503767 19q13.33 19 47545444G> A null A V 362 362 missense 0.001 benign 0.32 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1346810459 19q13.33 19 47545442G> A null P S 363 363 missense 0.001 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1370458876 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47545435G> A null P L 365 365 missense 0.0 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1273336346 19q13.33 19 47545430C> T null E K 367 367 missense 0.27 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1365362686 19q13.33 19 47545427G> A null P S 368 368 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1365362686 19q13.33 19 47545427G> T null P T 368 368 missense 0.0 benign 0.82 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1449754611 19q13.33 19 47545424C> T null E K 369 369 missense 0.76 possibly damaging 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1334350849 19q13.33 19 47545414G> C null T S 372 372 missense 0.0 benign 0.57 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1020920382 cosmic curated [Cosmic]: large_intestine cosmic_study:376 19q13.33 19 47545412C> T null A T 373 373 missense 0.0 benign 0.3 tolerated 1 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1167319253 19q13.33 19 47545411G> A null A V 373 373 missense 0.0 benign 0.26 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1231400550 19q13.33 19 47545405A> G null L P 375 375 missense 0.019 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1390938752 19q13.33 19 47545400C> T null A T 377 377 missense 0.011 benign 0.44 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1040161134 19q13.33 19 47545397G> C null R G 378 378 missense 0.005 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs758680655 19q13.33 19 47545396C> G null R P 378 378 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1040161134 19q13.33 19 47545397G> A null R W 378 378 missense 0.17 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1188465855 19q13.33 19 47545385C> A null E * 382 382 stop gained 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1188465855 19q13.33 19 47545385C> T null E K 382 382 missense 0.719 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1443972399 19q13.33 19 47545384T> A null E V 382 382 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1173483706 19q13.33 19 47545380G> C null C W 383 383 missense 0.125 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1397612244 19q13.33 19 47545377C> A null W C 384 384 missense 0.879 possibly damaging 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs943090546 19q13.33 19 47545375G> A null P L 385 385 missense 0.273 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1010499823 19q13.33 19 47545372T> G null E A 386 386 missense 0.154 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs910267663 19q13.33 19 47545370C> T null G S 387 387 missense 0.033 benign 0.33 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs753872049 19q13.33 19 47545366C> T null G D 388 388 missense 0.563 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1302728766 19q13.33 19 47545367C> T null G S 388 388 missense 0.035 benign 0.22 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1231325828 19q13.33 19 47545363G> C null S C 389 389 missense 0.204 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1449740753 19q13.33 19 47545346G> T null P T 395 395 missense 0.808 possibly damaging 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1371737854 19q13.33 19 47545340A> G null F L 397 397 missense 0.039 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1170986465 19q13.33 19 47545338G> T null F L 397 397 missense 0.039 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1170986465 19q13.33 19 47545338G> C null F L 397 397 missense 0.039 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs563682772 19q13.33 19 47545337G> C null R G 398 398 3.99E-4 missense 0.766 possibly damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1413135648 19q13.33 19 47545336C> T null R Q 398 398 missense 0.091 benign 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs989455282 19q13.33 19 47545329C> A null Q H 400 400 missense 0.012 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs774140647 19q13.33 19 47545322G> C null P A 403 403 missense 0.006 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1473893235 19q13.33 19 47545321G> T null P H 403 403 missense 0.671 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs774140647 19q13.33 19 47545322G> A null P S 403 403 missense 0.006 benign 0.51 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs766263101 19q13.33 19 47545312G> C null S C 406 406 missense 0.707 possibly damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs766263101 19q13.33 19 47545312G> A null S F 406 406 missense 0.548 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs969204771 19q13.33 19 47545313A> G null S P 406 406 missense 0.006 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs550450779 19q13.33 19 47545306G> A null P L 408 408 0.001597 missense 0.07 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1483234656 19q13.33 19 47545307G> A null P S 408 408 missense 0.003 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1450591453 19q13.33 19 47545303G> A null S L 409 409 missense 0.001 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs981600888 19q13.33 19 47545300C> T null S N 410 410 missense 0.306 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1229743682 19q13.33 19 47545295T> A null S C 412 412 missense 0.319 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1348105702 19q13.33 19 47545290G> T null F L 413 413 missense 0.458 possibly damaging 0.19 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs868465828 19q13.33 19 47545288T> C null Q R 414 414 missense 0.134 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1436168169 19q13.33 19 47545279C> T null R Q 417 417 missense 0.051 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1287266195 19q13.33 19 47545280G> A null R W 417 417 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs769524421 19q13.33 19 47545275G> C null N K 418 418 missense 0.156 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs769524421 19q13.33 19 47545275G> T null N K 418 418 missense 0.156 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs561466278 19q13.33 19 47545273A> G null L P 419 419 2.0E-4 missense 0.007 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs561466278 19q13.33 19 47545273A> C null L R 419 419 2.0E-4 missense 0.012 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs776217535 19q13.33 19 47545270G> A null P L 420 420 missense 0.578 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs768380078 19q13.33 19 47545271G> A null P S 420 420 missense 0.02 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1349436305 19q13.33 19 47545267C> T null G D 421 421 missense 0.563 possibly damaging 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs760543880 19q13.33 19 47545262G> A null P S 423 423 missense 0.643 possibly damaging 0.24 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs56162770 19q13.33 19 47545258T> C null K R 424 424 0.03974 missense 0.026 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1158658121 19q13.33 19 47545255C> T null S N 425 425 missense 0.003 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,gnomAD rs572583087 19q13.33 19 47545253T> C null K E 426 426 2.0E-4 missense 0.991 probably damaging 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1346889543 19q13.33 19 47545250C> T null G S 427 427 missense 0.163 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs186086770 19q13.33 19 47545243T> C null N S 429 429 0.004193 missense 0.001 benign 0.75 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1181166925 19q13.33 19 47545240A> G null V A 430 430 missense 0.068 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1181166925 19q13.33 19 47545240A> C null V G 430 430 missense 0.33 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs757401661 19q13.33 19 47545238A> G null F L 431 431 missense 0.003 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1223158353 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47545234A> G null V A 432 432 missense 0.055 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs927322088 19q13.33 19 47545228T> C null H R 434 434 missense 0.157 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1267143942 19q13.33 19 47545225T> C null K R 435 435 missense 0.815 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs576380845 19q13.33 19 47545223G> A null P S 436 436 2.0E-4 missense 0.01 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,gnomAD rs556534122 19q13.33 19 47545214C> T null V M 439 439 2.0E-4 missense 0.003 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs762829205 19q13.33 19 47545211G> A null P S 440 440 missense 0.0 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs764987967 19q13.33 19 47545207G> A null S L 441 441 missense 0.041 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs969261306 19q13.33 19 47545205G> A null R W 442 442 missense 0.0 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1040617428 19q13.33 19 47545199C> T null G S 444 444 missense 0.012 benign 0.31 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1394114007 19q13.33 19 47545195G> C null S C 445 445 missense 0.0 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1007359916 19q13.33 19 47545191C> G null E D 446 446 missense 0.012 benign 0.2 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1390649032 19q13.33 19 47545193C> T null E K 446 446 missense 0.206 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1159789511 19q13.33 19 47545190A> C null S A 447 447 missense 0.001 benign 0.67 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1381529231 19q13.33 19 47545186C> G null G A 448 448 missense 0.007 benign 0.39 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1043466934 19q13.33 19 47545183G> A null P L 449 449 missense 0.162 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1432325340 19q13.33 19 47545184G> A null P S 449 449 missense 0.011 benign 0.16 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1192817061 19q13.33 19 47545175T> A null S C 452 452 missense 0.541 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1447187050 19q13.33 19 47545172T> A null S C 453 453 missense 0.436 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1246862618 19q13.33 19 47545170G> T null S R 453 453 missense 0.415 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs989448557 19q13.33 19 47545168C> T null G E 454 454 missense 0.007 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,gnomAD rs574657798 19q13.33 19 47545169C> T null G R 454 454 2.0E-4 missense 0.021 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,gnomAD rs554594529 19q13.33 19 47545162G> A null P L 456 456 2.0E-4 missense 0.006 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1221417044 19q13.33 19 47545147G> A null P L 461 461 missense 0.0 benign 0.39 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1296962904 19q13.33 19 47545145G> C null P A 462 462 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs954984382 19q13.33 19 47545142C> G null G R 463 463 missense 0.014 benign 0.1 tolerated - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1292647145 19q13.33 19 47545138G> A null P L 464 464 missense 0.0 benign 0.42 tolerated - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs571605029 cosmic curated [Cosmic]: large_intestine cosmic_study:376 19q13.33 19 47545139G> A null P S 464 464 7.99E-4 missense 0.0 benign 0.62 tolerated - low confidence 1 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1359500511 19q13.33 19 47545136C> T null G S 465 465 missense 0.022 benign 0.08 tolerated - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs928862701 19q13.33 19 47545126A> G null L P 468 468 missense 0.001 benign 0.15 tolerated - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs928862701 19q13.33 19 47545126A> T null L Q 468 468 missense 0.005 benign 0.09 tolerated - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1193385436 19q13.33 19 47545123T> G null E A 469 469 missense 0.196 benign 0.0 deleterious - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1389404471 19q13.33 19 47545124C> G null E Q 469 469 missense 0.031 benign 0.12 tolerated - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1018408748 19q13.33 19 47545117G> C null A G 471 471 missense 0.015 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs899512590 19q13.33 19 47545118C> A null A S 471 471 missense 0.011 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs982033378 19q13.33 19 47545111G> A null P L 473 473 missense 0.36 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1180895887 19q13.33 19 47545112G> T null P T 473 473 missense 0.254 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1213730149 19q13.33 19 47545106G> A null P S 475 475 missense 0.003 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1340668797 19q13.33 19 47545102G> A null A V 476 476 missense 0.035 benign 0.16 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1568501086 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.33 19 47545099G> A null A V 477 477 missense 0.028 benign 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs879637672 19q13.33 19 47545094G> A null L F 479 479 missense 0.445 benign 0.16 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1395654813 19q13.33 19 47545087A> G null V A 481 481 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1310907547 19q13.33 19 47545088C> T null V I 481 481 missense 0.007 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs952087984 19q13.33 19 47545085G> C null P A 482 482 missense 0.01 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1046915887 19q13.33 19 47545084G> A null P L 482 482 missense 0.0 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs952087984 19q13.33 19 47545085G> A null P S 482 482 missense 0.0 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1304372235 19q13.33 19 47545082C> T null A T 483 483 missense 0.012 benign 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1335174731 19q13.33 19 47545081G> A null A V 483 483 missense 0.0 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs895774407 19q13.33 19 47545072G> A null P L 486 486 missense 0.0 benign 0.61 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 dbSNP,gnomAD rs3810320 19q13.33 19 47545073G> A null P S 486 486 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1366181344 19q13.33 19 47545066T> C null D G 488 488 missense 0.196 benign 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs772415761 19q13.33 19 47545067C> T null D N 488 488 missense 0.013 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1163710168 19q13.33 19 47545064G> T null P T 489 489 missense 0.011 benign 0.39 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs746232868 19q13.33 19 47545055C> G null A P 492 492 missense 0.282 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs937289841 19q13.33 19 47545051C> T null S N 493 493 missense 0.04 benign 0.16 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1482250869 19q13.33 19 47545049C> A null G W 494 494 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs771269447 19q13.33 19 47545046C> T null E K 495 495 missense 0.188 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs993481052 19q13.33 19 47545042T> A null D V 496 496 missense 0.403 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1206467731 19q13.33 19 47545043C> A null D Y 496 496 missense 0.65 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1481691030 19q13.33 19 47545040C> T null D N 497 497 missense 0.007 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs749577274 19q13.33 19 47545027G> A null P L 501 501 missense 0.0 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs777826331 19q13.33 19 47545025T> G null K Q 502 502 missense 0.034 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1250815663 19q13.33 19 47545024T> C null K R 502 502 missense 0.012 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1418207473 19q13.33 19 47545015T> C null K R 505 505 missense 0.003 benign 0.3 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1349621444 19q13.33 19 47545007A> G null C R 508 508 missense 0.154 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs756267198 19q13.33 19 47545002G> C null D E 509 509 missense 0.0 benign 0.27 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1308613703 19q13.33 19 47545004C> T null D N 509 509 missense 0.003 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1179042922 19q13.33 19 47545001A> G null S P 510 510 missense 0.0 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1475484586 19q13.33 19 47544998A> T null F I 511 511 missense 0.035 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1292438744 19q13.33 19 47544995G> C null L V 512 512 missense 0.011 benign 0.45 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1351281696 19q13.33 19 47544991C> A null C F 513 513 missense 0.011 benign 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs752671334 19q13.33 19 47544992A> C null C G 513 513 missense 0.009 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1156456010 19q13.33 19 47544990G> C null C W 513 513 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1471842511 19q13.33 19 47544987C> G null Q H 514 514 missense 0.541 possibly damaging 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs979230138 19q13.33 19 47544988T> G null Q P 514 514 missense 0.001 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs979230138 19q13.33 19 47544988T> C null Q R 514 514 missense 0.147 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1411670529 19q13.33 19 47544984G> C null N K 515 515 missense 0.001 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs966360436 19q13.33 19 47544983G> A null P S 516 516 missense 0.048 benign 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs780072882 19q13.33 19 47544980C> T null G R 517 517 missense 0.014 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1265809200 19q13.33 19 47544976T> G null E A 518 518 missense 0.025 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs758204539 19q13.33 19 47544975C> A null E D 518 518 missense 0.005 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs770418590 19q13.33 19 47544970C> T null G D 520 520 missense 0.012 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs750258653 19q13.33 19 47544971C> T null G S 520 520 missense 0.009 benign 0.22 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs761699758 19q13.33 19 47544961T> C null E G 523 523 missense 0.0 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1010652491 19q13.33 19 47544958G> A null A V 524 524 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1328295178 19q13.33 19 47544955T> C null Q R 525 525 missense 0.001 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1240841159 19q13.33 19 47544944C> T null G R 529 529 missense 0.379 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1300447624 19q13.33 19 47544938G> A null P S 531 531 missense 0.011 benign 0.34 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1030502668 19q13.33 19 47544934G> A null A V 532 532 missense 0.059 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1456374477 19q13.33 19 47544930A> T null D E 533 533 missense 0.001 benign 0.48 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs753589926 19q13.33 19 47544932C> T null D N 533 533 missense 0.202 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1568500557 19q13.33 19 47544931T> A null D V 533 533 missense 0.368 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1052533251 19q13.33 19 47544928G> T null A D 534 534 missense 0.36 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1485733099 19q13.33 19 47544929C> A null A S 534 534 missense 0.021 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1388830496 19q13.33 19 47544925G> A null S L 535 535 missense 0.007 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1455622110 19q13.33 19 47544922G> A null P L 536 536 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1455622110 19q13.33 19 47544922G> T null P Q 536 536 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1264555298 19q13.33 19 47544917A> G null F L 538 538 missense 0.019 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs928893029 19q13.33 19 47544913C> T null R H 539 539 missense 0.84 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs928893029 19q13.33 19 47544913C> G null R P 539 539 missense 0.872 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1433896994 19q13.33 19 47544909C> G null Q H 540 540 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs745429336 19q13.33 19 47544907A> G null L P 541 541 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1017958923 19q13.33 19 47544902G> A null L F 543 543 missense 0.546 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1186986786 19q13.33 19 47544899T> C null K E 544 544 missense 0.991 probably damaging 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1268939656 19q13.33 19 47544886G> A null P L 548 548 missense 0.027 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1268939656 19q13.33 19 47544886G> C null P R 548 548 missense 0.076 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs763600176 19q13.33 19 47544875G> T null H N 552 552 missense 0.201 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs948911031 19q13.33 19 47544873G> C null H Q 552 552 missense 0.027 benign 0.68 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs763600176 19q13.33 19 47544875G> A null H Y 552 552 missense 0.342 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs895659233 19q13.33 19 47544872C> T null E K 553 553 missense 0.786 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1233862216 19q13.33 19 47544868T> C null Q R 554 554 missense 0.398 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1057042289 19q13.33 19 47544864C> G null M I 555 555 missense 0.015 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1372622778 19q13.33 19 47544866T> A null M L 555 555 missense 0.007 benign 0.23 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1294771908 19q13.33 19 47544865A> C null M R 555 555 missense 0.0 benign 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1365495391 19q13.33 19 47544863G> C null Q E 556 556 missense 0.185 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1319835727 19q13.33 19 47544862T> C null Q R 556 556 missense 0.398 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs879537612 19q13.33 19 47544855G> T null F L 558 558 missense 0.005 benign 0.35 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1384313026 19q13.33 19 47544851T> C null M V 560 560 missense 0.003 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs905839231 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 19q13.33 19 47544832C> T null R Q 566 566 missense 0.84 possibly damaging 0.2 tolerated 1 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1166810809 19q13.33 19 47544825G> C null F L 568 568 missense 0.344 benign 0.37 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1397361362 19q13.33 19 47544827A> G null F L 568 568 missense 0.344 benign 0.37 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs760259756 19q13.33 19 47544820T> C null H R 570 570 missense 0.018 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1448890418 19q13.33 19 47544821G> A null H Y 570 570 missense 0.69 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1195555630 19q13.33 19 47544818C> G null A P 571 571 missense 0.606 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,gnomAD rs539139633 19q13.33 19 47544813C> G null Q H 572 572 2.0E-4 missense 0.819 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1255209715 19q13.33 19 47544809C> T null A T 574 574 missense 0.012 benign 0.29 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs984876283 19q13.33 19 47544806C> T null A T 575 575 missense 0.007 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs930732096 19q13.33 19 47544796G> C null S C 578 578 missense 0.541 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1426551178 19q13.33 19 47544797A> G null S P 578 578 missense 0.005 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs760091622 19q13.33 19 47544792C> G null Q H 579 579 missense 0.667 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1272321244 19q13.33 19 47544794G> T null Q K 579 579 missense 0.006 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs919311611 19q13.33 19 47544784G> A null A V 582 582 missense 0.0 benign 0.37 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1339149907 19q13.33 19 47544779C> T null E K 584 584 missense 0.269 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1339149907 19q13.33 19 47544779C> G null E Q 584 584 missense 0.67 possibly damaging 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1053137099 19q13.33 19 47544771T> A null K N 586 586 missense 0.298 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1333932747 19q13.33 19 47544772T> G null K T 586 586 missense 0.261 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1377823494 19q13.33 19 47544769G> A null P L 587 587 missense 0.11 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1306673258 19q13.33 19 47544764C> A null A S 589 589 missense 0.07 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1306673258 19q13.33 19 47544764C> T null A T 589 589 missense 0.003 benign 0.22 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1429237037 19q13.33 19 47544754G> A null P L 592 592 missense 0.554 possibly damaging 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs933458445 19q13.33 19 47544748T> C null Q R 594 594 missense 0.0 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1471934741 19q13.33 19 47544745C> T null G E 595 595 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs879355467 19q13.33 19 47544746C> T null G R 595 595 missense 0.974 probably damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs974943508 19q13.33 19 47544743G> A null P S 596 596 missense 0.005 benign 0.43 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs974943508 19q13.33 19 47544743G> T null P T 596 596 missense 0.058 benign 0.25 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1486504958 19q13.33 19 47544738C> A null W C 597 597 missense 0.707 possibly damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs550140068 19q13.33 19 47544736G> A null P L 598 598 2.0E-4 missense 0.005 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs550140068 19q13.33 19 47544736G> C null P R 598 598 2.0E-4 missense 0.274 benign 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs983837793 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19q13.33 19 47544728G> A null P S 601 601 missense 0.007 benign 0.21 tolerated 1 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1355229542 19q13.33 19 47544724G> T null P Q 602 602 missense 0.083 benign 0.26 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1226056701 19q13.33 19 47544725G> A null P S 602 602 missense 0.0 benign 0.82 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs561608658 19q13.33 19 47544721G> A null P L 603 603 2.0E-4 missense 0.0 benign 0.15 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1357728047 19q13.33 19 47544718A> C null L R 604 604 missense 0.506 possibly damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs534665034 19q13.33 19 47544715G> A null A V 605 605 7.99E-4 missense 0.001 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1409743962 19q13.33 19 47544713G> A null P S 606 606 missense 0.006 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1355553504 19q13.33 19 47544709G> A null A V 607 607 missense 0.015 benign 0.27 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1403628524 19q13.33 19 47544703T> C null D G 609 609 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1390323914 19q13.33 19 47544700G> C null S C 610 610 missense 0.707 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1463534376 19q13.33 19 47544701A> T null S T 610 610 missense 0.108 benign 0.25 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC rs755098158 19q13.33 19 47544698G> C null L V 611 611 missense 0.001 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1439643222 19q13.33 19 47544691G> C null A G 613 613 missense 0.0 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1476091462 19q13.33 19 47544692C> A null A S 613 613 missense 0.003 benign 0.46 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1476091462 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47544692C> T null A T 613 613 missense 0.0 benign 0.29 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs879603099 19q13.33 19 47544688C> A null G V 614 614 missense 0.762 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1470476371 19q13.33 19 47544683C> T null G R 616 616 missense 0.003 benign 0.52 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1001437785 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47544674C> T null E K 619 619 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1290197003 19q13.33 19 47544670G> C null A G 620 620 missense 0.0 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1450497940 19q13.33 19 47544671C> T null A T 620 620 missense 0.05 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1337481441 19q13.33 19 47544664C> T null G D 622 622 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1010704829 19q13.33 19 47544665C> G null G R 622 622 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1010704829 19q13.33 19 47544665C> T null G S 622 622 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1228104286 19q13.33 19 47544658G> A null P L 624 624 missense 0.012 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1286850156 19q13.33 19 47544659G> A null P S 624 624 missense 0.601 possibly damaging 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1281739794 19q13.33 19 47544652C> T null R H 626 626 missense 0.005 benign 0.32 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1374721662 19q13.33 19 47544653G> T null R S 626 626 missense 0.144 benign 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1434446002 19q13.33 19 47544650T> C null R G 627 627 missense 0.749 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1326896552 19q13.33 19 47544646C> G null R T 628 628 missense 0.351 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1463209702 19q13.33 19 47544644T> C null K E 629 629 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs905812575 19q13.33 19 47544632C> T null G R 633 633 missense 0.034 benign 0.15 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1470666243 19q13.33 19 47544631C> A null G V 633 633 missense 0.0 benign 0.3 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1176682004 19q13.33 19 47544622C> T null R K 636 636 missense 0.009 benign 0.43 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1409896936 19q13.33 19 47544619T> C null E G 637 637 missense 0.1 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1476459361 19q13.33 19 47544616G> A null A V 638 638 missense 0.115 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1222790055 19q13.33 19 47544611G> C null P A 640 640 missense 0.22 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs892227188 19q13.33 19 47544608C> G null G R 641 641 missense 0.58 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs892227188 19q13.33 19 47544608C> T null G S 641 641 missense 0.018 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1465971822 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.33 19 47544607C> A null G V 641 641 missense 0.203 benign 0.15 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs757171697 19q13.33 19 47544602T> C null T A 643 643 missense 0.0 benign 0.38 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1477438210 19q13.33 19 47544601G> A null T M 643 643 missense 0.007 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1463278797 19q13.33 19 47544596G> A null R * 645 645 stop gained 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs755247019 19q13.33 19 47544595C> T null R Q 645 645 missense 0.015 benign 0.34 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs763803139 19q13.33 19 47544592T> G null D A 646 646 missense 0.196 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1215305299 19q13.33 19 47544589G> T null A E 647 647 missense 0.04 benign 0.28 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1215305299 19q13.33 19 47544589G> A null A V 647 647 missense 0.04 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs948968209 19q13.33 19 47544585C> A null K N 648 648 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs567345337 19q13.33 19 47544584C> T null G R 649 649 2.0E-4 missense 0.013 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs567345337 19q13.33 19 47544584C> G null G R 649 649 2.0E-4 missense 0.013 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs567345337 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.33 19 47544584C> A null G W 649 649 2.0E-4 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,gnomAD rs545242395 19q13.33 19 47544580C> A null G V 650 650 2.0E-4 missense 0.577 possibly damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1226382443 19q13.33 19 47544578G> C null L V 651 651 missense 0.018 benign 0.87 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1443124055 19q13.33 19 47544565G> C null A G 655 655 missense 0.03 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1320099275 19q13.33 19 47544556G> A null T M 658 658 missense 0.04 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1204148644 19q13.33 19 47544553G> C null P R 659 659 missense 0.077 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs930805838 19q13.33 19 47544551G> A null L F 660 660 missense 0.001 benign 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 NCI-TCGA,gnomAD rs751201378 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.33 19 47544541G> A null P L 663 663 missense 0.007 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs774886794 19q13.33 19 47544535A> G null L P 665 665 missense 0.007 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs972161329 19q13.33 19 47544536G> C null L V 665 665 missense 0.321 benign 0.23 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1486429202 19q13.33 19 47544510G> C null I M 673 673 missense 0.167 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs780105036 19q13.33 19 47544512T> C null I V 673 673 missense 0.0 benign 0.43 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs766822136 19q13.33 19 47544508G> C null S C 674 674 missense 0.707 possibly damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs766822136 19q13.33 19 47544508G> A null S F 674 674 missense 0.548 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1410132225 19q13.33 19 47544509A> G null S P 674 674 missense 0.006 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs865927300 19q13.33 19 47544505G> A null S F 675 675 missense 0.01 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1281613205 19q13.33 19 47544496T> C null K R 678 678 missense 0.76 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs563075422 19q13.33 19 47544492C> G null Q H 679 679 2.0E-4 missense 0.005 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1416100311 19q13.33 19 47544487C> A null R L 681 681 missense 0.722 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1340100921 19q13.33 19 47544484G> T null S Y 682 682 missense 0.019 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC rs773384037 19q13.33 19 47544481G> C null S C 683 683 missense 0.343 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC rs773384037 19q13.33 19 47544481G> A null S F 683 683 missense 0.157 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143702897 19q13.33 19 47544472G> C null T S 686 686 0.009585 missense 0.009 benign 0.25 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1446952474 19q13.33 19 47544455T> A null I F 692 692 missense 0.169 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1446952474 19q13.33 19 47544455T> C null I V 692 692 missense 0.003 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs776910248 19q13.33 19 47544450G> C null F L 693 693 missense 0.035 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1376027047 19q13.33 19 47544452A> C null F V 693 693 missense 0.035 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs768901088 19q13.33 19 47544448G> A null P L 694 694 missense 0.07 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1388994968 19q13.33 19 47544443T> C null T A 696 696 missense 0.0 benign 0.77 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1475292794 19q13.33 19 47544442G> A null T I 696 696 missense 0.007 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs747067686 19q13.33 19 47544439C> G null G A 697 697 missense 0.138 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1387917375 19q13.33 19 47544433C> T null R Q 699 699 missense 0.005 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs985454798 19q13.33 19 47544434G> A null R W 699 699 missense 0.635 possibly damaging 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1481193568 19q13.33 19 47544430T> C null Q R 700 700 missense 0.26 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1173685702 19q13.33 19 47544425G> C null Q E 702 702 missense 0.056 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,gnomAD rs554813876 19q13.33 19 47544421A> G null L S 703 703 3.99E-4 missense 0.001 benign 0.78 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1400934717 19q13.33 19 47544413C> T null E K 706 706 missense 0.003 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs953277934 19q13.33 19 47544412T> A null E V 706 706 missense 0.135 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1250828041 19q13.33 19 47544409T> C null E G 707 707 missense 0.149 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs750500813 19q13.33 19 47544410C> G null E Q 707 707 missense 0.007 benign 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114027430 19q13.33 19 47544407G> T null P T 708 708 0.01258 missense 0.001 benign 0.96 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1310796562 19q13.33 19 47544400C> T null G E 710 710 missense 0.659 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1447142710 19q13.33 19 47544401C> T null G R 710 710 missense 0.726 possibly damaging 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1227571883 19q13.33 19 47544398C> T null A T 711 711 missense 0.003 benign 0.77 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1295111955 19q13.33 19 47544385C> T null G E 715 715 missense 0.819 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1235361422 19q13.33 19 47544373G> T null P Q 719 719 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1407912825 19q13.33 19 47544371C> A null A S 720 720 missense 0.02 benign 0.35 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs113099247 19q13.33 19 47544368C> T null E K 721 721 missense 0.608 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs113099247 19q13.33 19 47544368C> G null E Q 721 721 missense 0.861 possibly damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1347792087 19q13.33 19 47544359C> T null A T 724 724 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1031189835 19q13.33 19 47544350T> A null R W 727 727 missense 0.161 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1475113724 19q13.33 19 47544347T> A null I F 728 728 missense 0.027 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs572224958 19q13.33 19 47544345G> C null I M 728 728 3.99E-4 missense 0.06 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73940887 19q13.33 19 47544343G> A null T I 729 729 0.002995 missense 0.015 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1376537321 19q13.33 19 47544341T> C null K E 730 730 missense 0.196 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1476759841 19q13.33 19 47544340T> G null K T 730 730 missense 0.521 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1471900520 19q13.33 19 47544338C> T null G S 731 731 missense 0.005 benign 0.29 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs757344707 19q13.33 19 47544334T> C null E G 732 732 missense 0.005 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,gnomAD rs538877900 19q13.33 19 47544330C> G null K N 733 733 0.001398 missense 0.996 probably damaging 0.23 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1177882752 19q13.33 19 47544328C> T null G D 734 734 missense 0.276 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1263947264 19q13.33 19 47544323C> A null A S 736 736 missense 0.081 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1335310552 19q13.33 19 47544320A> T null C S 737 737 missense 0.005 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1274817554 19q13.33 19 47544314G> C null R G 739 739 missense 0.847 possibly damaging 0.15 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1274817554 19q13.33 19 47544314G> A null R W 739 739 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs781359614 19q13.33 19 47544311C> G null G R 740 740 missense 0.659 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs34152047 19q13.33 19 47544310C> A null G V 740 740 2.0E-4 missense 0.785 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs894750507 19q13.33 19 47544304C> A null G V 742 742 missense 0.522 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1392666975 19q13.33 19 47544301T> C null Y C 743 743 missense 0.007 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1021511380 19q13.33 19 47544299G> C null R G 744 744 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1241252668 19q13.33 19 47544298C> T null R Q 744 744 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1364848538 19q13.33 19 47544296G> C null L V 745 745 missense 0.132 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs750917710 19q13.33 19 47544280C> T null R K 750 750 missense 0.527 possibly damaging 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1455937609 19q13.33 19 47544274G> A null P L 752 752 missense 0.074 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs267605559 19q13.33 19 47544271C> T null R Q 753 753 missense 0.689 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1266249184 19q13.33 19 47544263C> T null G S 756 756 missense 0.998 probably damaging 0.37 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs776771887 19q13.33 19 47544260A> G null F L 757 757 missense 0.087 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1265353666 19q13.33 19 47544258G> T null F L 757 757 missense 0.087 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs944815994 19q13.33 19 47544256C> T null R Q 758 758 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1193012414 19q13.33 19 47544257G> A null R W 758 758 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1469084405 19q13.33 19 47544253T> G null K T 759 759 missense 0.706 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1050434065 19q13.33 19 47544244G> A null A V 762 762 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1169521909 19q13.33 19 47544237C> T null M I 764 764 missense 0.066 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs997545524 19q13.33 19 47544235T> C null D G 765 765 missense 0.979 probably damaging 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1226997718 19q13.33 19 47544233T> C null M V 766 766 missense 0.0 benign 0.62 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1461778449 19q13.33 19 47544230A> G null C R 767 767 missense 0.741 possibly damaging 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs775665526 19q13.33 19 47544223G> T null A E 769 769 missense 0.349 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs775665526 19q13.33 19 47544223G> C null A G 769 769 missense 0.141 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs775665526 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47544223G> A null A V 769 769 missense 0.058 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1302072608 19q13.33 19 47544221C> T null A T 770 770 missense 0.177 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1393396041 19q13.33 19 47544217G> A null S F 771 771 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs931940048 19q13.33 19 47544215G> C null P A 772 772 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs989392808 19q13.33 19 47544206C> T null V I 775 775 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs901969508 19q13.33 19 47544197C> T null A T 778 778 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1295663239 19q13.33 19 47544194A> C null S A 779 779 missense 0.908 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1165174144 19q13.33 19 47544193G> A null S F 779 779 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1039175803 19q13.33 19 47544187G> A null S L 781 781 missense 0.476 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs201407638 19q13.33 19 47544188A> G null S P 781 781 missense 0.785 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1455808851 19q13.33 19 47544182C> A null A S 783 783 missense 0.007 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs757387184 19q13.33 19 47544175G> A null P L 785 785 missense 0.034 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs777763555 19q13.33 19 47544172G> A null P L 786 786 missense 0.003 benign 0.27 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1186888100 19q13.33 19 47544169G> A null A V 787 787 missense 0.001 benign 0.33 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1262167386 19q13.33 19 47544163G> C null P R 789 789 missense 0.11 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1250566336 19q13.33 19 47544160G> C null S C 790 790 missense 0.257 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34984302 19q13.33 19 47544158T> C null K E 791 791 0.02336 missense 0.026 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs887956237 19q13.33 19 47544157T> G null K T 791 791 missense 0.007 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1049293545 19q13.33 19 47544155A> T null S T 792 792 missense 0.188 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl,dbSNP rs3826835 19q13.33 19 47544146T> A null T S 795 795 missense 0.775 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1475530693 19q13.33 19 47544142A> G null I T 796 796 missense 0.476 possibly damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1421798037 19q13.33 19 47540944T> C null N S 804 804 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1256777190 19q13.33 19 47540938T> C null Y C 806 806 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1489851526 19q13.33 19 47540934C> A null R S 807 807 missense 0.02 benign 0.54 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs867999809 19q13.33 19 47540927G> C null H D 810 810 missense 0.001 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs867999809 19q13.33 19 47540927G> T null H N 810 810 missense 0.001 benign 0.51 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs544260706 19q13.33 19 47540926T> C null H R 810 810 0.001398 missense 0.109 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs867999809 19q13.33 19 47540927G> A null H Y 810 810 missense 0.006 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1049986911 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19q13.33 19 47540923G> A null P L 811 811 missense 0.006 benign 0.1 tolerated 1 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1049986911 19q13.33 19 47540923G> C null P R 811 811 missense 0.58 possibly damaging 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1245259501 19q13.33 19 47540917T> C null K R 813 813 missense 0.007 benign 0.35 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes rs542521040 19q13.33 19 47540914T> G null E A 814 814 2.0E-4 missense 0.516 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes rs555751958 19q13.33 19 47540915C> T null E K 814 814 2.0E-4 missense 0.438 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1445310069 19q13.33 19 47540911T> A null E V 815 815 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ESP,ExAC,TOPMed,gnomAD rs370239964 19q13.33 19 47540903C> T null A T 818 818 missense 0.051 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs764437953 19q13.33 19 47540899C> T null G D 819 819 missense 0.011 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs937817255 19q13.33 19 47540327T> G null Q P 824 824 missense 0.0 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1278256168 19q13.33 19 47540325T> C null N D 825 825 missense 0.01 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ESP,ExAC,TOPMed,gnomAD rs371040136 19q13.33 19 47540322C> T null G S 826 826 missense 0.669 possibly damaging 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs747927039 19q13.33 19 47540321C> A null G V 826 826 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1460073899 19q13.33 19 47540312G> A null T I 829 829 missense 0.025 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs771138312 19q13.33 19 47540303G> A null T M 832 832 missense 0.015 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34730322 19q13.33 19 47540297G> T null P H 834 834 0.006589 missense 0.027 benign 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1401815239 19q13.33 19 47540285A> G null F S 838 838 missense 0.147 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs901218875 19q13.33 19 47540283C> A null V F 839 839 missense 0.357 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs901218875 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.33 19 47540283C> T null V I 839 839 missense 0.007 benign 0.41 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs573570878 19q13.33 19 47540279C> G null C S 840 840 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1157907977 19q13.33 19 47540267C> T null S N 844 844 missense 0.037 benign 0.19 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1296692120 19q13.33 19 47540253T> C null T A 849 849 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs140989558 19q13.33 19 47540252G> A null T M 849 849 3.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1196050105 19q13.33 19 47540235T> G null S R 855 855 missense 0.028 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes rs546388694 19q13.33 19 47540228A> G null M T 857 857 2.0E-4 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1467767029 19q13.33 19 47540229T> C null M V 857 857 missense 0.931 probably damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1216918134 19q13.33 19 47540226A> C null C G 858 858 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs987166407 19q13.33 19 47540223A> T null F I 859 859 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1205705058 19q13.33 19 47540221A> C null F L 859 859 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1214744541 19q13.33 19 47540219T> C null H R 860 860 missense 0.829 possibly damaging 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1447474058 19q13.33 19 47540220G> A null H Y 860 860 missense 0.048 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1337373328 19q13.33 19 47540214C> T null D N 862 862 missense 0.814 possibly damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1288057458 19q13.33 19 47540209C> A null Q H 863 863 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1282835746 19q13.33 19 47540210T> G null Q P 863 863 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1282835746 19q13.33 19 47540210T> C null Q R 863 863 missense 0.979 probably damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1223708260 19q13.33 19 47540204G> A null P L 865 865 missense 0.894 possibly damaging 0.16 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs757900127 19q13.33 19 47540198G> A null P L 867 867 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1477169674 19q13.33 19 47540195C> T null R Q 868 868 missense 0.886 possibly damaging 0.32 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1370569707 19q13.33 19 47540189T> C null K R 870 870 missense 0.018 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1408843273 19q13.33 19 47540184C> T null E K 872 872 missense 0.037 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs745321719 19q13.33 19 47540180G> A null P L 873 873 missense 0.043 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1442894014 19q13.33 19 47540181G> A null P S 873 873 missense 0.027 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1442894014 19q13.33 19 47540181G> T null P T 873 873 missense 0.056 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs759539415 19q13.33 19 47539877A> G null V A 875 875 missense 0.001 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1165980313 19q13.33 19 47539878C> T null V M 875 875 missense 0.01 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1174900993 19q13.33 19 47539873A> C null F L 876 876 missense 0.0 benign 0.24 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs535113976 19q13.33 19 47539869T> G null T P 878 878 2.0E-4 missense 0.202 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs765109471 19q13.33 19 47539864C> A null E D 879 879 missense 0.013 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs768504551 19q13.33 19 47539858G> T null C * 881 881 stop gained 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs761858188 19q13.33 19 47539860A> T null C S 881 881 missense 0.26 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs776517514 19q13.33 19 47539859C> T null C Y 881 881 missense 0.005 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs746790693 19q13.33 19 47539853G> A null P L 883 883 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs775133791 19q13.33 19 47539847C> A null R I 885 885 missense 0.77 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs775133791 19q13.33 19 47539847C> T null R K 885 885 missense 0.237 benign 0.27 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1212260357 19q13.33 19 47539841A> G null V A 887 887 missense 0.0 benign 0.45 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs933961097 19q13.33 19 47539812G> A null P S 897 897 missense 0.02 benign 0.15 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1295080691 19q13.33 19 47539809G> A null P S 898 898 missense 0.009 benign 0.46 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs865854569 19q13.33 19 47539806C> T null G R 899 899 missense 0.007 benign 0.29 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1214990217 19q13.33 19 47539805C> A null G V 899 899 missense 0.403 benign 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1363793895 19q13.33 19 47539802G> A null T I 900 900 missense 0.007 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1291432077 19q13.33 19 47539795C> A null K N 902 902 missense 0.421 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1216615712 19q13.33 19 47539793G> A null P L 903 903 missense 0.027 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1459990021 19q13.33 19 47539781G> A null T I 907 907 missense 0.0 benign 0.28 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1232548524 19q13.33 19 47539779C> G null A P 908 908 missense 0.548 possibly damaging 0.19 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1254339517 19q13.33 19 47539775G> A null A V 909 909 missense 0.001 benign 0.87 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1487112729 19q13.33 19 47539769G> C null P R 911 911 missense 0.11 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1170679630 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 19q13.33 19 47539770G> A null P S 911 911 missense 0.0 benign 0.19 tolerated 1 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs927075031 19q13.33 19 47539755G> C null Q E 916 916 missense 0.003 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs546513010 19q13.33 19 47539753T> A null Q H 916 916 2.0E-4 missense 0.041 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs756694351 19q13.33 19 47539743C> T null V M 920 920 missense 0.003 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1270573930 19q13.33 19 47539733A> T null V E 923 923 missense 0.0 benign 0.3 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1174703773 19q13.33 19 47539727C> T null R Q 925 925 missense 0.007 benign 0.26 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1017110574 19q13.33 19 47539725G> T null H N 926 926 missense 0.009 benign 0.36 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12972658 19q13.33 19 47539719C> T null G R 928 928 0.1486 missense 0.884 possibly damaging 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs769424073 19q13.33 19 47539707T> A null M L 932 932 missense 0.003 benign 0.9 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1057197589 19q13.33 19 47538496T> A null M L 933 933 missense 0.0 benign 0.66 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1057197589 19q13.33 19 47538496T> C null M V 933 933 missense 0.0 benign 0.52 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1316203397 19q13.33 19 47538488C> T null W * 935 935 stop gained 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs985155573 19q13.33 19 47538478A> G null W R 939 939 missense 0.0 benign 0.37 tolerated - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs181482443 19q13.33 19 47538475G> A null L F 940 940 3.99E-4 missense 0.146 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1303986471 19q13.33 19 47538472G> A null Q * 941 941 stop gained 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1241625848 19q13.33 19 47538470C> A null Q H 941 941 missense 0.146 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1368373326 19q13.33 19 47538469C> T null A T 942 942 missense 0.011 benign 0.57 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs556994413 19q13.33 19 47538468G> A null A V 942 942 2.0E-4 missense 0.0 benign 0.34 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1295874587 19q13.33 19 47538451T> G null K Q 948 948 missense 0.0 benign 0.57 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1452273954 19q13.33 19 47538432T> C null E G 954 954 missense 0.326 benign 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs775310863 19q13.33 19 47538424C> T null G R 957 957 missense 0.0 benign 0.16 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs775310863 19q13.33 19 47538424C> G null G R 957 957 missense 0.0 benign 0.16 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs971920008 19q13.33 19 47538423C> A null G V 957 957 missense 0.055 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs775310863 19q13.33 19 47538424C> A null G W 957 957 missense 0.59 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs147189897 19q13.33 19 47538418C> T null E K 959 959 5.99E-4 missense 0.516 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs200160121 19q13.33 19 47538414C> G null R P 960 960 missense 0.481 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs200160121 19q13.33 19 47538414C> T null R Q 960 960 missense 0.005 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1568492732 19q13.33 19 47538411T> A null D V 961 961 missense 0.785 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1269206896 19q13.33 19 47538408C> G null S T 962 962 missense 0.003 benign 0.45 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1265529616 19q13.33 19 47538405T> C null K R 963 963 missense 0.007 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1206753943 19q13.33 19 47538396C> T null S N 966 966 missense 0.203 benign 0.2 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs770534578 19q13.33 19 47538391G> T null Q K 968 968 missense 0.015 benign 0.56 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1218216119 19q13.33 19 47538384T> A null K M 970 970 missense 0.871 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs748751966 19q13.33 19 47538383C> G null K N 970 970 missense 0.62 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs989479893 19q13.33 19 47538385T> G null K Q 970 970 missense 0.457 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1218216119 19q13.33 19 47538384T> C null K R 970 970 missense 0.026 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs778431189 19q13.33 19 47538381C> A null R L 971 971 missense 0.847 possibly damaging 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs778431189 19q13.33 19 47538381C> T null R Q 971 971 missense 0.791 possibly damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1302313850 19q13.33 19 47538382G> A null R W 971 971 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs922285307 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.33 19 47538372C> T null R Q 974 974 missense 0.703 possibly damaging 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs201362446 19q13.33 19 47538373G> A null R W 974 974 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1375436455 19q13.33 19 47538370G> A null P S 975 975 missense 0.643 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,TOPMed,gnomAD rs568168796 19q13.33 19 47538366G> A null P L 976 976 2.0E-4 missense 0.001 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs770385744 19q13.33 19 47538358T> C null T A 979 979 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs748545726 19q13.33 19 47538357G> T null T K 979 979 missense 0.033 benign 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs748545726 19q13.33 19 47538357G> A null T M 979 979 missense 0.007 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1379538998 19q13.33 19 47538351C> A null G V 981 981 missense 0.521 possibly damaging 0.29 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1190801993 19q13.33 19 47538349C> T null E K 982 982 missense 0.115 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs200669663 19q13.33 19 47538345G> A null P L 983 983 missense 0.005 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1427671304 19q13.33 19 47538346G> A null P S 983 983 missense 0.505 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs751874984 19q13.33 19 47538333C> G null G A 987 987 missense 0.47 possibly damaging 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs751874984 19q13.33 19 47538333C> T null G E 987 987 missense 0.684 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs780123259 19q13.33 19 47538319G> A null R C 992 992 missense 0.0 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs572657043 19q13.33 19 47538318C> T null R H 992 992 missense 0.288 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs572657043 19q13.33 19 47538318C> A null R L 992 992 missense 0.033 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201524743 19q13.33 19 47538312C> T null R Q 994 994 2.0E-4 missense 0.007 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs535118056 19q13.33 19 47538313G> A null R W 994 994 3.99E-4 missense 0.513 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes rs190326991 19q13.33 19 47538304T> C null M V 997 997 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1208413066 19q13.33 19 47538295C> T null V M 1000 1000 missense 0.037 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1402401354 19q13.33 19 47538286G> A null L F 1003 1003 missense 0.142 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1215293320 19q13.33 19 47538279T> G null K T 1005 1005 missense 0.521 possibly damaging 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,gnomAD rs532428703 19q13.33 19 47538273A> G null L S 1007 1007 2.0E-4 missense 0.996 probably damaging 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs999015401 19q13.33 19 47538264C> G null C S 1010 1010 missense 0.086 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs999015401 19q13.33 19 47538264C> T null C Y 1010 1010 missense 0.246 benign 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs994513103 19q13.33 19 47538261G> A null S F 1011 1011 missense 0.831 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs570301192 19q13.33 19 47538258G> C null P R 1012 1012 0.001398 missense 0.767 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1461348844 19q13.33 19 47538259G> A null P S 1012 1012 missense 0.457 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1568492353 19q13.33 19 47538255T> A null Y F 1013 1013 missense 0.596 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs538900148 19q13.33 19 47538250G> A null P S 1015 1015 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs571602003 19q13.33 19 47538247G> A null P S 1016 1016 missense 0.834 possibly damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1256665594 19q13.33 19 47538244G> C null P A 1017 1017 missense 0.706 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1360676265 19q13.33 19 47538241T> C null M V 1018 1018 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1188092806 19q13.33 19 47538229T> C null I V 1022 1022 missense 0.185 benign 0.34 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1248049291 19q13.33 19 47538225C> T null R Q 1023 1023 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1317190132 19q13.33 19 47538219C> T null G D 1025 1025 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1194868396 19q13.33 19 47538216G> A null S F 1026 1026 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1316110325 19q13.33 19 47538214C> T null G R 1027 1027 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1339578287 19q13.33 19 47538213C> A null G V 1027 1027 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1259125459 19q13.33 19 47538211C> T null V M 1028 1028 missense 0.023 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs948833435 19q13.33 19 47538201T> C null N S 1031 1031 missense 0.014 benign 0.47 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1220798511 19q13.33 19 47538198G> T null T N 1032 1032 missense 0.444 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1333378564 19q13.33 19 47538196G> C null L V 1033 1033 missense 0.591 possibly damaging 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1448913333 19q13.33 19 47538192C> T null C Y 1034 1034 missense 0.178 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,NCI-TCGA,gnomAD rs767415819 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47538186G> A null T M 1036 1036 missense 0.007 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs767415819 19q13.33 19 47538186G> C null T R 1036 1036 missense 0.001 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs866624685 19q13.33 19 47538183G> A null S F 1037 1037 missense 0.548 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs866624685 19q13.33 19 47538183G> T null S Y 1037 1037 missense 0.641 possibly damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs775953990 19q13.33 19 47538177T> C null Q R 1039 1039 missense 0.001 benign 0.27 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1172591369 19q13.33 19 47538175C> T null A T 1040 1040 missense 0.037 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs759242573 19q13.33 19 47538171C> A null S I 1041 1041 missense 0.059 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs530275691 19q13.33 19 47538145G> C null L V 1050 1050 2.0E-4 missense 0.055 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1230680944 19q13.33 19 47538142C> T null D N 1051 1051 missense 0.009 benign 0.17 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,TOPMed,gnomAD rs557382497 19q13.33 19 47532970G> C null Q E 1052 1052 2.0E-4 missense 0.081 benign 0.45 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1453862740 19q13.33 19 47532967C> A null V L 1053 1053 missense 0.003 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1453862740 19q13.33 19 47532967C> T null V M 1053 1053 missense 0.033 benign 0.42 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1568487945 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47532964C> T null D N 1054 1054 missense 0.755 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs747275799 19q13.33 19 47532960C> T null G E 1055 1055 missense 0.276 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1192080224 19q13.33 19 47532949T> G null I L 1059 1059 missense 0.015 benign 0.4 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1204676545 19q13.33 19 47532945C> A null C F 1060 1060 missense 0.466 possibly damaging 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs944192347 19q13.33 19 47532946A> G null C R 1060 1060 missense 0.296 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1204676545 19q13.33 19 47532945C> G null C S 1060 1060 missense 0.005 benign 0.54 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1354485006 19q13.33 19 47532943C> G null V L 1061 1061 missense 0.003 benign 0.62 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1311819162 19q13.33 19 47532939A> G null V A 1062 1062 missense 0.185 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1232373053 19q13.33 19 47532936T> C null K R 1063 1063 missense 0.978 probably damaging 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs537530178 19q13.33 19 47532915A> G null I T 1070 1070 3.99E-4 missense 0.007 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1306370871 19q13.33 19 47532916T> C null I V 1070 1070 missense 0.062 benign 0.21 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1310571022 19q13.33 19 47532268T> C null H R 1073 1073 missense 0.601 possibly damaging 0.25 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1257720214 19q13.33 19 47532266T> C null I V 1074 1074 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1177769094 19q13.33 19 47532260T> C null I V 1076 1076 missense 0.044 benign 0.19 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1416579786 19q13.33 19 47532250C> T null R Q 1079 1079 missense 0.283 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1170338744 19q13.33 19 47532230C> G null E Q 1086 1086 missense 0.831 possibly damaging 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1478447163 19q13.33 19 47532226A> C null L R 1087 1087 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1265923609 19q13.33 19 47532211A> T null L Q 1092 1092 missense 0.548 possibly damaging 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1482955044 19q13.33 19 47532205C> A null G V 1094 1094 missense 0.326 benign 0.33 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs747428287 19q13.33 19 47532197C> T null E K 1097 1097 missense 0.045 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs934726001 19q13.33 19 47532188C> T null A T 1100 1100 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1426646350 19q13.33 19 47532182G> C null L V 1102 1102 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs775780195 19q13.33 19 47532176A> T null W R 1104 1104 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1218965984 19q13.33 19 47532161C> T null D N 1109 1109 missense 0.999 probably damaging 0.11 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1319960049 19q13.33 19 47532156C> G null M I 1110 1110 missense 0.003 benign 0.74 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs928607373 19q13.33 19 47532157A> G null M T 1110 1110 missense 0.027 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs907206790 19q13.33 19 47532152T> C null I V 1112 1112 missense 0.007 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1045735023 19q13.33 19 47532148C> T null S N 1113 1113 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs980597417 19q13.33 19 47532134C> T null D N 1118 1118 missense 0.334 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs970207355 19q13.33 19 47532130C> T null R K 1119 1119 missense 0.23 benign 0.2 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs553093803 19q13.33 19 47531740C> T null E K 1122 1122 0.001597 missense 0.936 probably damaging 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs553093803 19q13.33 19 47531740C> G null E Q 1122 1122 0.001597 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1360679614 19q13.33 19 47531737G> A null L F 1123 1123 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs751492696 19q13.33 19 47531728C> A null V L 1126 1126 missense 0.139 benign 0.31 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs868566856 19q13.33 19 47531725C> T null A T 1127 1127 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1012910442 19q13.33 19 47531709A> G null M T 1132 1132 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs758263279 19q13.33 19 47531710T> C null M V 1132 1132 missense 0.931 probably damaging 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1332567795 19q13.33 19 47531694G> T null T N 1137 1137 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1233668949 19q13.33 19 47531689G> C null L V 1139 1139 missense 0.714 possibly damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs894431166 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19q13.33 19 47531680C> T null A T 1142 1142 missense 0.528 possibly damaging 0.0 deleterious 1 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1322191091 19q13.33 19 47531679G> A null A V 1142 1142 missense 0.907 possibly damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1372207226 19q13.33 19 47531662C> T null E K 1148 1148 missense 0.269 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1331582478 19q13.33 19 47531659C> T null A T 1149 1149 missense 0.17 benign 0.19 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs532156959 19q13.33 19 47531656G> T null Q K 1150 1150 2.0E-4 missense 0.033 benign 0.3 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1385675257 19q13.33 19 47531655T> C null Q R 1150 1150 missense 0.003 benign 0.32 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1324227589 19q13.33 19 47531652C> A null G V 1151 1151 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs919091492 19q13.33 19 47531647C> T null V I 1153 1153 missense 0.007 benign 0.68 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1167137096 19q13.33 19 47531643T> G null Q P 1154 1154 missense 0.367 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1184564988 19q13.33 19 47529651A> C null V G 1155 1155 missense 0.112 benign 0.36 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs796434627 19q13.33 19 47529649C> T null A T 1156 1156 missense 0.995 probably damaging 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs747008660 19q13.33 19 47529639G> A null T I 1159 1159 missense 0.231 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs890198740 19q13.33 19 47529631G> A null L F 1162 1162 missense 0.986 probably damaging 0.31 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1051638378 19q13.33 19 47529619G> T null H N 1166 1166 missense 0.01 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs78411306 19q13.33 19 47529617G> T null H Q 1166 1166 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1051638378 19q13.33 19 47529619G> A null H Y 1166 1166 missense 0.029 benign 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376357174 19q13.33 19 47529616T> C null K E 1167 1167 7.99E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ESP,ExAC,TOPMed,gnomAD rs373148602 19q13.33 19 47529609C> T null R Q 1169 1169 missense 0.001 benign 0.78 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1037556708 19q13.33 19 47529610G> A null R W 1169 1169 missense 0.353 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs907844513 19q13.33 19 47529603T> G null H P 1171 1171 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1174614673 19q13.33 19 47529602G> T null H Q 1171 1171 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs756806891 19q13.33 19 47529595C> T null A T 1174 1174 missense 0.048 benign 0.13 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1340355500 19q13.33 19 47529592C> T null D N 1175 1175 missense 0.007 benign 0.45 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs933425416 19q13.33 19 47529585C> T null R H 1177 1177 missense 0.003 benign 0.82 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs759149474 19q13.33 19 47529580T> C null T A 1179 1179 missense 0.987 probably damaging 0.26 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs773478650 19q13.33 19 47529030C> T null V I 1183 1183 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1303813468 19q13.33 19 47529016T> C null I M 1187 1187 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1397021635 19q13.33 19 47529017A> G null I T 1187 1187 missense 0.0 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1157177558 19q13.33 19 47529018T> C null I V 1187 1187 missense 0.0 benign 0.86 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1406906508 19q13.33 19 47528993G> A null A V 1195 1195 missense 0.069 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1465065967 19q13.33 19 47528991A> G null F L 1196 1196 missense 0.978 probably damaging 0.19 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ESP rs369225827 19q13.33 19 47528989G> C null F L 1196 1196 missense 0.978 probably damaging 0.19 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1424007946 19q13.33 19 47528987T> C null Y C 1197 1197 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ESP,ExAC,TOPMed,gnomAD rs375905291 19q13.33 19 47528984G> A null A V 1198 1198 missense 0.283 benign 0.51 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1367522367 19q13.33 19 47528978T> C null K R 1200 1200 missense 0.1 benign 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1443614308 19q13.33 19 47528954T> C null K R 1208 1208 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1055216498 19q13.33 19 47528951A> C null M R 1209 1209 missense 0.007 benign 0.39 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1055216498 19q13.33 19 47528951A> G null M T 1209 1209 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377161876 19q13.33 19 47521976C> T null A T 1216 1216 2.0E-4 missense 0.021 benign 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1309046617 19q13.33 19 47521975G> A null A V 1216 1216 missense 0.254 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs768036432 19q13.33 19 47521967C> T null V I 1219 1219 missense 0.02 benign 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1323984708 19q13.33 19 47521951A> T null I N 1224 1224 missense 0.02 benign 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1330251112 19q13.33 19 47521952T> C null I V 1224 1224 missense 0.007 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1157737465 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 47521935G> C null I M 1229 1229 missense 0.021 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1358226560 19q13.33 19 47521936A> G null I T 1229 1229 missense 0.115 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1419749480 19q13.33 19 47521932C> G null K N 1230 1230 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1381666656 19q13.33 19 47521926G> C null D E 1232 1232 missense 0.76 possibly damaging 0.15 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs760087394 19q13.33 19 47521921C> T null G D 1234 1234 missense 0.762 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1477337571 19q13.33 19 47521918C> T null R Q 1235 1235 missense 0.982 probably damaging 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs58537729 19q13.33 19 47521916C> T null A T 1236 1236 missense 0.007 benign 0.16 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1429550546 19q13.33 19 47521913G> A null P S 1237 1237 missense 0.02 benign 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1246430453 19q13.33 19 47521909C> G null G A 1238 1238 missense 0.012 benign 0.52 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1246430453 19q13.33 19 47521909C> T null G E 1238 1238 missense 0.621 possibly damaging 0.67 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1453750871 19q13.33 19 47521904C> G null E Q 1240 1240 missense 0.878 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1284125989 19q13.33 19 47521901T> C null K E 1241 1241 missense 0.966 probably damaging 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1038095469 19q13.33 19 47521898T> C null R G 1242 1242 missense 0.82 possibly damaging 0.1 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1216219410 19q13.33 19 47521891T> C null K R 1244 1244 missense 0.007 benign 0.34 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1354457244 19q13.33 19 47521882G> A null P L 1247 1247 missense 0.0 benign 0.41 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1005227684 19q13.33 19 47521874C> A null V L 1250 1250 missense 0.027 benign 0.23 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1005227684 19q13.33 19 47521874C> T null V M 1250 1250 missense 0.365 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1029812975 19q13.33 19 47521857T> A null E D 1255 1255 missense 0.0 benign 0.12 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs868450885 19q13.33 19 47521859C> T null E K 1255 1255 missense 0.003 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs770648223 19q13.33 19 47521654C> A null V F 1257 1257 missense 0.564 possibly damaging 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1478392559 19q13.33 19 47521651G> T null P T 1258 1258 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs755715828 19q13.33 19 47521648A> G null C R 1259 1259 missense 0.01 benign 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1238154335 19q13.33 19 47521638C> T null R Q 1262 1262 missense 0.013 benign 0.18 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ESP,ExAC,TOPMed,gnomAD rs371182783 19q13.33 19 47521639G> A null R W 1262 1262 missense 0.011 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1191897755 19q13.33 19 47521635T> C null E G 1263 1263 missense 0.276 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1205428806 19q13.33 19 47521630G> A null P S 1265 1265 missense 0.01 benign 0.31 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs1568477974 19q13.33 19 47521621G> C null H D 1268 1268 missense 0.023 benign 0.22 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1456397287 19q13.33 19 47521618G> A null P S 1269 1269 missense 0.054 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,gnomAD rs79514292 19q13.33 19 47521608T> A null K M 1272 1272 2.0E-4 missense 0.003 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,gnomAD rs79514292 19q13.33 19 47521608T> C null K R 1272 1272 2.0E-4 missense 0.0 benign 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1199030203 19q13.33 19 47521604T> G null L F 1273 1273 missense 0.007 benign 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs373537894 19q13.33 19 47521599G> A null T I 1275 1275 missense 0.834 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1227422610 19q13.33 19 47521576T> G null I L 1283 1283 missense 0.051 benign 0.27 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1379204935 19q13.33 19 47521573G> A null L F 1284 1284 missense 0.564 possibly damaging 0.05 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1285466065 19q13.33 19 47521570T> C null S G 1285 1285 missense 0.026 benign 0.09 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1454989576 19q13.33 19 47521569C> T null S N 1285 1285 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1320687326 19q13.33 19 47521560G> C null P R 1288 1288 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1398735097 19q13.33 19 47521554G> C null A G 1290 1290 missense 0.039 benign 0.06 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1005280092 19q13.33 19 47521552C> T null G S 1291 1291 missense 0.059 benign 0.42 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs745715368 19q13.33 19 47521548G> C null S C 1292 1292 missense 0.161 benign 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1025342415 19q13.33 19 47521545T> C null K R 1293 1293 missense 0.012 benign 0.16 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs754482188 19q13.33 19 47521542C> T null R Q 1294 1294 missense 0.697 possibly damaging 0.07 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs778519631 19q13.33 19 47521543G> A null R W 1294 1294 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1185501115 19q13.33 19 47521537G> T null P T 1296 1296 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs984820986 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.33 19 47521534C> T null E K 1297 1297 missense 0.786 possibly damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1179229326 19q13.33 19 47521530A> G null L P 1298 1298 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs546644837 19q13.33 19 47521527A> G null L S 1299 1299 3.99E-4 missense 0.0 benign 0.14 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1041033627 19q13.33 19 47521524C> G null G A 1300 1300 missense 0.138 benign 0.02 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs763231985 19q13.33 19 47521521C> A null S I 1301 1301 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1321957007 19q13.33 19 47521519C> T null A T 1302 1302 missense 0.04 benign 0.34 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1293577444 19q13.33 19 47521514C> G null E D 1303 1303 missense 0.675 possibly damaging 0.55 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 Ensembl rs865974656 19q13.33 19 47521512C> T null S N 1304 1304 missense 0.003 benign 0.46 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1375583311 19q13.33 19 47521508C> A null Q H 1305 1305 missense 0.58 possibly damaging 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1461157051 19q13.33 19 47521509T> G null Q P 1305 1305 missense 0.005 benign 0.05 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1448206581 19q13.33 19 47521504T> C null I V 1307 1307 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1263937885 19q13.33 19 47521498G> A null P S 1309 1309 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 1000Genomes,ExAC,TOPMed,gnomAD rs142618329 19q13.33 19 47521488T> A null E V 1312 1312 2.0E-4 missense 0.605 possibly damaging 0.01 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1431206091 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19q13.33 19 47521354C> T null R Q 1323 1323 missense 0.994 probably damaging 0.0 deleterious 1 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1190992331 19q13.33 19 47521348G> C null A G 1325 1325 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1254742866 19q13.33 19 47521336C> T null R Q 1329 1329 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1482020425 19q13.33 19 47521337G> A null R W 1329 1329 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,gnomAD rs749063967 19q13.33 19 47521331G> A null R C 1331 1331 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1365422736 19q13.33 19 47521330C> T null R H 1331 1331 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed rs1294682877 19q13.33 19 47521303A> G null I T 1340 1340 missense 0.015 benign 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1216960679 19q13.33 19 47521304T> C null I V 1340 1340 missense 0.0 benign 1.0 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ESP,ExAC,TOPMed,gnomAD rs374622717 19q13.33 19 47521291C> T null W * 1344 1344 stop gained 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ESP,ExAC,TOPMed,gnomAD rs374622717 19q13.33 19 47521291C> G null W S 1344 1344 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs777200810 19q13.33 19 47521274G> A null Q * 1350 1350 stop gained 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1400209786 19q13.33 19 47521262C> T null E K 1354 1354 missense 0.791 possibly damaging 0.04 deleterious 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1407951572 19q13.33 19 47521244T> C null I V 1360 1360 missense 0.057 benign 0.08 tolerated 0 A0A075B6F0 ZNF541 Zinc finger protein 541 ExAC,TOPMed,gnomAD rs769547016 19q13.33 19 47521240C> T null G D 1361 1361 missense 0.722 possibly damaging 0.11 tolerated - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1477411458 19q13.33 19 47521241C> G null G R 1361 1361 missense 0.909 probably damaging 0.0 deleterious - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 TOPMed,gnomAD rs1477411458 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19q13.33 19 47521241C> T null G S 1361 1361 missense 0.068 benign 0.23 tolerated - low confidence 1 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1421507689 19q13.33 19 47521237G> A null P L 1362 1362 missense 0.573 possibly damaging 0.06 tolerated - low confidence 0 A0A075B6F0 ZNF541 Zinc finger protein 541 gnomAD rs1254906749 19q13.33 19 47521231T> G null Q P 1364 1364 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs938464385 6p21.2 6 38722813G> A null E K 2 2 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762613710 6p21.2 6 38722816A> T null K * 3 3 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs565853864 6p21.2 6 38722818G> T null K N 3 3 2.0E-4 missense 0.0 unknown 0.26 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs918093929 6p21.2 6 38722821T> G null D E 4 4 missense 0.0 unknown 0.25 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs918093929 6p21.2 6 38722821T> A null D E 4 4 missense 0.0 unknown 0.25 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773587098 6p21.2 6 38722819G> C null D H 4 4 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761145538 6p21.2 6 38722820A> T null D V 4 4 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1194079435 6p21.2 6 38722829A> C null D A 7 7 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs766901959 6p21.2 6 38722828G> A null D N 7 7 missense 0.0 unknown 0.2 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1476379780 6p21.2 6 38722834G> T null A S 9 9 missense 0.0 unknown 0.3 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1476379780 6p21.2 6 38722834G> A null A T 9 9 missense 0.0 unknown 0.2 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752732695 6p21.2 6 38722841C> G null S C 11 11 missense 0.0 unknown 0.05 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs756587791 6p21.2 6 38722840T> C null S P 11 11 missense 0.0 unknown 0.29 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1283340628 6p21.2 6 38722843G> A null E K 12 12 missense 0.0 unknown 0.22 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs780500868 6p21.2 6 38722847G> A null G E 13 13 missense 0.0 unknown 0.6 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777885822 6p21.2 6 38722846G> A null G R 13 13 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs534843319 6p21.2 6 38722854G> C null E D 15 15 2.0E-4 missense 0.398 benign 0.07 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs757017842 6p21.2 6 38722852G> A null E K 15 15 missense 0.497 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs757017842 6p21.2 6 38722852G> C null E Q 15 15 missense 0.617 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs754105184 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38722856C> T null A V 16 16 missense 0.006 benign 0.44 tolerated - low confidence 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000227900 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs769740350 6p21.2 6 38722859C> T null P L 17 17 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1174472663 6p21.2 6 38722865C> A null S Y 19 19 missense 0.028 benign 0.02 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779549158 6p21.2 6 38722868C> T null T M 20 20 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1240681880 6p21.2 6 38722870G> A null E K 21 21 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1348980244 6p21.2 6 38722874A> G null E G 22 22 missense 0.617 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1471622411 6p21.2 6 38722877C> G null A G 23 23 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1236967297 6p21.2 6 38722876G> A null A T 23 23 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768307399 6p21.2 6 38722880C> A null A D 24 24 missense 0.0 unknown 0.52 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768307399 6p21.2 6 38722880C> G null A G 24 24 missense 0.0 unknown 0.66 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748780209 6p21.2 6 38722879G> T null A S 24 24 missense 0.0 unknown 0.64 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748780209 6p21.2 6 38722879G> A null A T 24 24 missense 0.0 unknown 0.43 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768307399 6p21.2 6 38722880C> T null A V 24 24 missense 0.0 unknown 0.29 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1207810630 6p21.2 6 38722883C> G null P R 25 25 missense 0.0 unknown 0.28 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs554901790 6p21.2 6 38722882C> T null P S 25 25 0.0 missense 0.0 unknown 0.26 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760061997 6p21.2 6 38722889G> A null R H 27 27 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs777193495 6p21.2 6 38722888C> A null R S 27 27 missense 0.0 unknown 0.72 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs910443081 6p21.2 6 38722894G> C null E Q 29 29 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562544213 6p21.2 6 38722895A> T null E V 29 29 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1305759309 6p21.2 6 38722898A> G null E G 30 30 missense 0.0 unknown 0.05 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762962212 6p21.2 6 38722907C> A null A D 33 33 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762962212 6p21.2 6 38722907C> G null A G 33 33 missense 0.0 unknown 0.4 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762962212 6p21.2 6 38722907C> T null A V 33 33 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751778628 6p21.2 6 38722910C> T null P L 34 34 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751778628 6p21.2 6 38722910C> A null P Q 34 34 missense 0.0 unknown 0.35 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751778628 6p21.2 6 38722910C> G null P R 34 34 missense 0.0 unknown 0.26 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1452651708 6p21.2 6 38722909C> A null P T 34 34 missense 0.0 unknown 0.28 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750227332 cosmic curated [Cosmic]: endometrium cosmic_study:419 6p21.2 6 38722912C> T null R C 35 35 missense 0.0 unknown 0.14 tolerated - low confidence 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756006472 6p21.2 6 38722913G> T null R L 35 35 missense 0.0 unknown 0.63 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes rs574826551 6p21.2 6 38722916C> G null P R 36 36 2.0E-4 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs1178576726 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38722915C> T null P S 36 36 missense 0.0 unknown 0.05 deleterious - low confidence 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629282 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1178576726 6p21.2 6 38722915C> A null P T 36 36 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779879117 6p21.2 6 38722918C> G null P A 37 37 missense 0.0 unknown 0.2 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749298702 6p21.2 6 38722919C> A null P Q 37 37 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs771861249 6p21.2 6 38722922C> T null T I 38 38 missense 0.0 unknown 0.18 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs778551218 6p21.2 6 38722921A> C null T P 38 38 missense 0.0 unknown 0.28 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs778551218 6p21.2 6 38722921A> T null T S 38 38 missense 0.0 unknown 0.74 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1272457190 6p21.2 6 38722925T> C null V A 39 39 missense 0.0 unknown 0.82 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1005158629 6p21.2 6 38722924G> A null V M 39 39 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777064945 6p21.2 6 38722928A> C null E A 40 40 missense 0.0 benign 0.64 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1248099376 6p21.2 6 38722929G> C null E D 40 40 missense 0.0 benign 0.52 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777064945 6p21.2 6 38722928A> G null E G 40 40 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746266293 6p21.2 6 38722930G> T null A S 41 41 missense 0.01 benign 0.48 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs184882877 6p21.2 6 38722934C> T null P L 42 42 2.0E-4 missense 0.0 benign 0.53 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs184882877 6p21.2 6 38722934C> G null P R 42 42 2.0E-4 missense 0.015 benign 0.43 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1365191172 6p21.2 6 38722933C> T null P S 42 42 missense 0.0 benign 0.61 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1365191172 6p21.2 6 38722933C> A null P T 42 42 missense 0.01 benign 0.47 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763586301 6p21.2 6 38722936G> A null A T 43 43 missense 0.022 benign 0.49 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1395830207 6p21.2 6 38722937C> T null A V 43 43 missense 0.03 benign 0.22 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs774952820 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38722946_38722969du p null G null 46 53 insertion 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000538194 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1205175846 6p21.2 6 38722949T> C null F S 47 47 missense 0.001 benign 0.45 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs188635757 6p21.2 6 38722952C> G null S C 48 48 3.99E-4 missense 0.166 benign 0.03 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs776744908 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38722951T> C null S P 48 48 missense 0.0 benign 0.23 tolerated - low confidence 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629309 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1353862693 6p21.2 6 38722960G> A null A T 51 51 missense 0.0 benign 0.6 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1318231185 6p21.2 6 38722961C> T null A V 51 51 missense 0.005 benign 0.29 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750174047 6p21.2 6 38722964A> T null E V 52 52 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs541097237 6p21.2 6 38722969G> A null A T 54 54 missense 0.0 benign 0.65 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1337077576 6p21.2 6 38722970C> T null A V 54 54 missense 0.014 benign 0.32 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs755843860 6p21.2 6 38722972G> T null V F 55 55 missense 0.021 benign 0.07 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs755843860 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:21798893,cosmic_study:349 6p21.2 6 38722972G> C null V L 55 55 missense 0.0 benign 0.32 tolerated - low confidence 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs766238623 6p21.2 6 38722975T> C null S P 56 56 missense 0.0 benign 0.5 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753713102 6p21.2 6 38722979C> T null S F 57 57 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1014350937 6p21.2 6 38722981G> A null V M 58 58 missense 0.003 benign 0.2 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754998330 6p21.2 6 38722984G> A null V M 59 59 missense 0.003 benign 0.11 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747662373 6p21.2 6 38722994G> A null R Q 62 62 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs778505007 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38722993C> T null R W 62 62 missense 0.396 benign 0.01 deleterious - low confidence 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000696922 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1186567798 6p21.2 6 38722997A> C null D A 63 63 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs906090744 6p21.2 6 38722996G> C null D H 63 63 missense 0.089 benign 0.05 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs906090744 6p21.2 6 38722996G> A null D N 63 63 missense 0.0 benign 0.62 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777590248 6p21.2 6 38723006C> T null P L 66 66 missense 0.216 benign 0.01 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs755524955 6p21.2 6 38723009C> T null S F 67 67 missense 0.18 benign 0.01 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs770020515 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38723018G> A null G E 70 70 missense 0.0 benign 1.0 tolerated - low confidence 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000807078 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1444009416 6p21.2 6 38723020A> T null I L 71 71 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775983133 6p21.2 6 38723021T> G null I R 71 71 missense 0.021 benign 0.01 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775983133 6p21.2 6 38723021T> C null I T 71 71 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749701046 6p21.2 6 38723032G> A null D N 75 75 missense 0.047 benign 0.04 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779225947 6p21.2 6 38723036A> G null D G 76 76 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs1357378794 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38723038C> A null H N 77 77 missense 0.0 benign 0.45 tolerated - low confidence 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000808442 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761908514 6p21.2 6 38723044G> A null A T 79 79 missense 0.012 benign 0.58 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1185247828 6p21.2 6 38723045C> T null A V 79 79 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1463244818 6p21.2 6 38723048A> C null D A 80 80 missense 0.0 benign 0.78 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767635716 6p21.2 6 38723047G> C null D H 80 80 missense 0.089 benign 0.15 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1227862263 6p21.2 6 38723051T> C null L P 81 81 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1283417758 6p21.2 6 38723057G> T null R I 83 83 missense 0.458 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1345507643 6p21.2 6 38723059G> C null V L 84 84 missense 0.01 benign 0.31 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs545867507 6p21.2 6 38723062C> T null R * 85 85 2.0E-4 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs545867507 6p21.2 6 38723062C> G null R G 85 85 2.0E-4 missense 0.983 probably damaging 0.01 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1483944490 6p21.2 6 38723063G> T null R L 85 85 missense 0.983 probably damaging 0.01 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1483944490 6p21.2 6 38723063G> A null R Q 85 85 missense 0.983 probably damaging 0.02 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1184315439 6p21.2 6 38723066A> G null Q R 86 86 missense 0.03 benign 0.39 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs766071932 6p21.2 6 38723071C> T null L F 88 88 missense 0.03 benign 0.7 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs368527130 6p21.2 6 38723074G> A null A T 89 89 missense 0.001 benign 0.49 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746576087 6p21.2 6 38723078C> T null P L 90 90 missense 0.001 benign 0.21 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs960018798 6p21.2 6 38723077C> A null P T 90 90 missense 0.051 benign 0.09 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757958716 6p21.2 6 38723084C> T null P L 92 92 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP rs368624401 6p21.2 6 38723105A> G null E G 99 99 missense 0.047 benign 0.2 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1296500620 6p21.2 6 38723108T> C null V A 100 100 missense 0.001 benign 0.75 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1302697102 6p21.2 6 38723111T> C null L P 101 101 missense 0.001 benign 0.26 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs954540376 6p21.2 6 38723120C> T null P L 104 104 missense 0.0 benign 0.48 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs954540376 6p21.2 6 38723120C> A null P Q 104 104 missense 0.0 benign 0.72 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs954540376 6p21.2 6 38723120C> G null P R 104 104 missense 0.0 benign 0.55 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779374597 6p21.2 6 38723126C> T null S F 106 106 missense 0.15 benign 0.01 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs765307487 6p21.2 6 38723129G> T null R L 107 107 missense 0.001 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs765307487 6p21.2 6 38723129G> A null R Q 107 107 missense 0.071 benign 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1212995937 6p21.2 6 38723135C> T null S F 109 109 missense 0.158 benign 0.28 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1485920182 6p21.2 6 38723140A> G null R G 111 111 missense 0.051 benign 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773336154 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6p21.2 6 38723147G> A null R H 113 113 missense 0.001 benign 0.22 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs542057474 6p21.2 6 38723149C> G null R G 114 114 2.0E-4 missense 0.983 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1221155183 6p21.2 6 38723150G> A null R Q 114 114 missense 0.983 probably damaging 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs542057474 6p21.2 6 38723149C> T null R W 114 114 2.0E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs978277478 6p21.2 6 38723155A> G null M V 116 116 missense 0.033 benign 0.43 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1203659491 6p21.2 6 38723164C> T null L F 119 119 missense 0.139 benign 0.05 tolerated - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1179151737 6p21.2 6 38723165T> C null L P 119 119 missense 0.416 benign 0.01 deleterious - low confidence 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759397600 6p21.2 6 38723167C> T null P S 120 120 missense 0.104 benign 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562547028 6p21.2 6 38723173C> G null L V 122 122 missense 0.007 benign 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1271209537 6p21.2 6 38723180A> G null E G 124 124 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116164504 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38723193G> C null E D 128 128 2.0E-4 missense 0.99 probably damaging 0.13 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000469173 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,dbSNP,gnomAD rs763048415 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38723191G> A null E K 128 128 missense 0.99 probably damaging 0.07 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000467617 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763048415 6p21.2 6 38723191G> C null E Q 128 128 missense 0.994 probably damaging 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1439860742 6p21.2 6 38723194A> G null R G 129 129 missense 0.07 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1286602474 6p21.2 6 38723337G> A null A T 131 131 missense 0.996 probably damaging 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764158389 6p21.2 6 38723338C> T null A V 131 131 missense 0.994 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1439916323 6p21.2 6 38723346A> G null R G 134 134 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1229678505 6p21.2 6 38723349G> C null E Q 135 135 missense 0.32 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773686512 6p21.2 6 38723353C> G null A G 136 136 missense 0.994 probably damaging 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1234386636 6p21.2 6 38723365G> A null R Q 140 140 missense 0.988 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1436367216 6p21.2 6 38723370C> G null L V 142 142 missense 0.07 benign 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1204336259 6p21.2 6 38723373A> G null K E 143 143 missense 0.043 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1356392953 6p21.2 6 38723377T> C null I T 144 144 missense 0.199 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755824326 6p21.2 6 38723379G> C null D H 145 145 missense 0.614 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765524742 6p21.2 6 38723380A> T null D V 145 145 missense 0.44 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753060938 6p21.2 6 38723382C> T null P S 146 146 missense 0.001 benign 0.53 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753060938 6p21.2 6 38723382C> A null P T 146 146 missense 0.07 benign 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs368430092 6p21.2 6 38723389A> G null Y C 148 148 missense 0.003 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs368430092 6p21.2 6 38723389A> T null Y F 148 148 missense 0.003 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs868867866 6p21.2 6 38723388T> C null Y H 148 148 missense 0.003 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs747518898 6p21.2 6 38723391A> G null K E 149 149 missense 0.104 benign 0.59 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1175189474 6p21.2 6 38723392A> G null K R 149 149 missense 0.005 benign 0.88 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs376030488 6p21.2 6 38723399A> G null I M 151 151 missense 0.03 benign 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371708059 6p21.2 6 38723397A> G null I V 151 151 2.0E-4 missense 0.001 benign 0.75 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1156356567 6p21.2 6 38723401T> C null F S 152 152 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1470050318 6p21.2 6 38723407T> A null I N 154 154 missense 0.707 possibly damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775387175 6p21.2 6 38723418A> G null N D 158 158 missense 0.0 benign 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs371425796 6p21.2 6 38723420T> A null N K 158 158 missense 0.0 benign 0.59 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1414872977 6p21.2 6 38723425G> T null G V 160 160 missense 0.413 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768385574 6p21.2 6 38723435A> G null I M 163 163 missense 0.007 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1214317879 6p21.2 6 38723433A> G null I V 163 163 missense 0.0 benign 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374691452 6p21.2 6 38723443T> C null V A 166 166 7.99E-4 missense 0.104 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs374691452 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38723443T> A null V D 166 166 7.99E-4 missense 0.62 possibly damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000814045 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767043823 6p21.2 6 38723467C> T null P L 174 174 missense 0.012 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1202219875 6p21.2 6 38729909C> A null A E 178 178 missense 0.14 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1446527998 6p21.2 6 38729919T> A null N K 181 181 missense 0.0 benign 0.55 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1308668216 6p21.2 6 38729926G> A null A T 184 184 missense 0.03 benign 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs368460226 6p21.2 6 38729927C> T null A V 184 184 missense 0.0 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1451094316 6p21.2 6 38729930A> C null K T 185 185 missense 0.994 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs917448158 6p21.2 6 38729945C> T null T I 190 190 missense 0.645 possibly damaging 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1173992224 6p21.2 6 38729953T> C null F L 193 193 missense 0.001 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs748063803 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38729958G> T null L F 194 194 missense 0.005 benign 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629410 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs771905434 6p21.2 6 38729973T> A null D E 199 199 missense 0.005 benign 0.99 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs980394378 6p21.2 6 38729978C> T null P L 201 201 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1391541448 6p21.2 6 38729980G> A null G S 202 202 missense 0.058 benign 0.62 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1230239923 6p21.2 6 38734477G> A null C Y 205 205 missense 0.517 possibly damaging 0.6 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs746465579 6p21.2 6 38734480G> A null G D 206 206 missense 0.74 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs776176679 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38734482C> T null R * 207 207 stop gained 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000700884 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs756731770 cosmic curated [Cosmic]: endometrium cosmic_study:419 6p21.2 6 38734483G> A null R Q 207 207 missense 0.228 benign 0.21 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1436901950 6p21.2 6 38734485A> T null T S 208 208 missense 0.048 benign 0.53 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1413472247 6p21.2 6 38734488A> G null I V 209 209 missense 0.001 benign 0.84 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1473949597 6p21.2 6 38734492C> T null A V 210 210 missense 0.001 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1373682260 6p21.2 6 38734495G> A null G E 211 211 missense 1.0 probably damaging 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1343547990 6p21.2 6 38734497G> T null A S 212 212 missense 0.183 benign 0.91 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs774729790 6p21.2 6 38734501C> T null T I 213 213 missense 0.096 benign 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs200815756 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38734507G> A null G E 215 215 missense 1.0 probably damaging 0.7 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000699497 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1369615342 6p21.2 6 38734506G> A null G R 215 215 missense 1.0 probably damaging 0.53 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768035095 6p21.2 6 38734509G> A null A T 216 216 missense 0.003 benign 0.65 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1396266518 6p21.2 6 38734510C> T null A V 216 216 missense 0.07 benign 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs750965126 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.2 6 38734517G> A null M I 218 218 missense 0.001 benign 0.53 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1410613805 6p21.2 6 38734515A> G null M V 218 218 missense 0.006 benign 0.66 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761327493 6p21.2 6 38734519T> A null M K 219 219 missense 0.135 benign 0.41 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761327493 6p21.2 6 38734519T> C null M T 219 219 missense 0.075 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753974456 6p21.2 6 38734528A> G null Y C 222 222 missense 0.774 possibly damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753974456 6p21.2 6 38734528A> T null Y F 222 222 missense 0.005 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs766510979 6p21.2 6 38734527T> C null Y H 222 222 missense 0.718 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1249365541 6p21.2 6 38734532A> G null I M 223 223 missense 0.203 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1554195443 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38734531T> C null I T 223 223 missense 0.068 benign 0.07 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629271 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779023133 6p21.2 6 38734535C> A null D E 224 224 missense 0.005 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1009197625 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38734533G> A null D N 224 224 missense 0.208 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs548292757 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38734537A> G null N S 225 225 2.0E-4 missense 0.0 benign 0.25 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000820439 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1254654602 6p21.2 6 38734540C> A null A E 226 226 missense 0.1 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs370991185 cosmic curated [Cosmic]: large_intestine cosmic_study:375,cosmic_study:376 6p21.2 6 38734546C> T null P L 228 228 missense 1.0 probably damaging 0.21 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs199848059 6p21.2 6 38734545C> T null P S 228 228 2.0E-4 missense 0.999 probably damaging 0.71 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1191690018 6p21.2 6 38734550T> A null D E 229 229 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562587069 6p21.2 6 38734552A> C null K T 230 230 missense 0.046 benign 0.43 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1430808030 6p21.2 6 38734555T> C null L P 231 231 missense 0.33 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs979139615 6p21.2 6 38734560G> C null G R 233 233 missense 0.244 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780611949 6p21.2 6 38734566T> C null C R 235 235 missense 0.099 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1434156128 6p21.2 6 38734569A> G null I V 236 236 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1197608561 6p21.2 6 38734572T> C null F L 237 237 missense 0.0 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs889094736 6p21.2 6 38734576T> A null F Y 238 238 missense 0.325 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs769396908 6p21.2 6 38734578G> A null V I 239 239 missense 0.994 probably damaging 0.91 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs769396908 6p21.2 6 38734578G> C null V L 239 239 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs145773185 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38734581C> T null R C 240 240 missense 0.785 possibly damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000547898 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188018051 6p21.2 6 38734582G> A null R H 240 240 2.0E-4 missense 0.73 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1007614402 6p21.2 6 38734585G> C null C S 241 241 missense 0.511 possibly damaging 0.52 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs79455046 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38734587C> T null R C 242 242 0.002196 missense 0.493 possibly damaging 0.03 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000465733 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs142863013 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia cosmic_study:376 6p21.2 6 38734588G> A null R H 242 242 5.99E-4 missense 0.001 benign 0.12 tolerated 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000232124 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142863013 6p21.2 6 38734588G> T null R L 242 242 5.99E-4 missense 0.082 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79455046 6p21.2 6 38734587C> A null R S 242 242 0.002196 missense 0.007 benign 0.72 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1208779013 6p21.2 6 38734590A> G null N D 243 243 missense 0.068 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs776721493 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38734595T> A null D E 244 244 missense 0.005 benign 0.35 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000695784 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs146560083 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38734600C> T null A V 246 246 missense 0.003 benign 0.11 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000863208 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed,gnomAD rs141218388 6p21.2 6 38734602A> G null I V 247 247 missense 0.0 benign 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765394346 6p21.2 6 38734612A> C null K T 250 250 missense 0.286 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs941365295 6p21.2 6 38734623G> A null E K 254 254 missense 0.007 benign 0.56 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1251469400 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38737068A> G null E G 255 255 missense 0.068 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,dbSNP,gnomAD rs776968317 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38737071C> T null A V 256 256 missense 0.0 benign 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000822718 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1427612873 6p21.2 6 38737074T> C null L P 257 257 missense 0.8 possibly damaging 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs1056358638 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38737078T> A null F L 258 258 missense 0.061 benign 0.04 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000686215 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1287693879 6p21.2 6 38737083T> C null V A 260 260 missense 0.068 benign 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1350996814 6p21.2 6 38737085C> G null L V 261 261 missense 0.995 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1413646649 6p21.2 6 38737089A> G null D G 262 262 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145115573 6p21.2 6 38737092C> A null A E 263 263 7.99E-4 missense 0.54 possibly damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs1411109414 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38737091G> A null A T 263 263 missense 0.189 benign 0.27 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000805704 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145115573 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38737092C> T null A V 263 263 7.99E-4 missense 0.007 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751829816 6p21.2 6 38737095C> T null S L 264 264 missense 0.072 benign 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs796636840 6p21.2 6 38737101G> C null G A 266 266 missense 0.013 benign 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs796636840 6p21.2 6 38737101G> A null G E 266 266 missense 0.682 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1369340028 6p21.2 6 38737109A> G null N D 269 269 missense 0.018 benign 0.48 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1008275320 6p21.2 6 38737116T> C null I T 271 271 missense 0.995 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1451138078 6p21.2 6 38737122A> C null D A 273 273 missense 0.007 benign 0.86 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs868257301 6p21.2 6 38737121G> A null D N 273 273 missense 0.0 benign 0.74 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1237563023 6p21.2 6 38737127T> A null L M 275 275 missense 0.065 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1221540853 6p21.2 6 38737130G> A null A T 276 276 missense 0.068 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs750314831 6p21.2 6 38737138A> G null I M 278 278 missense 0.203 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147580001 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38737136A> G null I V 278 278 0.002396 missense 0.0 benign 0.87 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000543844 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1295215179 6p21.2 6 38737145C> A null P T 281 281 missense 0.492 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs756093731 6p21.2 6 38737154C> G null L V 284 284 missense 0.068 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs76249323 6p21.2 6 38737157G> T null A S 285 285 missense 0.003 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs779369031 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23917401,cosmic_study:329,cosmic_study:552 6p21.2 6 38737160A> G null T A 286 286 missense 0.994 probably damaging 0.54 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753423983 6p21.2 6 38737164A> T null N I 287 287 missense 0.203 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1222850683 6p21.2 6 38737165C> A null N K 287 287 missense 0.068 benign 0.58 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs6935293 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38737167A> G null N S 288 288 0.05831 missense 0.007 benign 0.38 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000469312 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs371250738 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38737176C> A null A D 291 291 missense 0.988 probably damaging 0.53 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000687734 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs561903158 6p21.2 6 38737175G> T null A S 291 291 2.0E-4 missense 0.958 probably damaging 0.61 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs561903158 6p21.2 6 38737175G> A null A T 291 291 2.0E-4 missense 0.97 probably damaging 0.46 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs371250738 6p21.2 6 38737176C> T null A V 291 291 missense 0.919 probably damaging 0.28 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs971110651 6p21.2 6 38737181A> C null N H 293 293 missense 0.999 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746300876 6p21.2 6 38737182A> G null N S 293 293 missense 0.994 probably damaging 0.98 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763041304 cosmic curated [Cosmic]: ovary cosmic_study:585 6p21.2 6 38737192G> T null K N 296 296 missense 0.003 benign 0.32 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775392746 6p21.2 6 38737191A> G null K R 296 296 missense 0.068 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768764670 6p21.2 6 38737194A> T null Q L 297 297 missense 0.046 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs774551537 6p21.2 6 38737196G> A null G R 298 298 missense 0.888 possibly damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767160721 6p21.2 6 38737200A> C null E A 299 299 missense 0.881 possibly damaging 0.56 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1307039134 6p21.2 6 38737199G> A null E K 299 299 missense 0.958 probably damaging 0.55 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767160721 6p21.2 6 38737200A> T null E V 299 299 missense 0.355 benign 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1291968591 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38737205G> A null E K 301 301 missense 0.1 benign 0.89 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760493851 6p21.2 6 38737211C> T null H Y 303 303 missense 0.001 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138258349 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38737215T> C null I T 304 304 2.0E-4 missense 0.003 benign 0.48 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000822536 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754502447 6p21.2 6 38737220A> G null T A 306 306 missense 0.068 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778631444 6p21.2 6 38737221C> A null T N 306 306 missense 0.293 benign 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1484067686 6p21.2 6 38737227C> G null T S 308 308 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752382452 6p21.2 6 38737232A> G null N D 310 310 missense 0.046 benign 0.6 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752382452 6p21.2 6 38737232A> C null N H 310 310 missense 0.001 benign 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1235635197 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38737233A> G null N S 310 310 missense 0.001 benign 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781343452 6p21.2 6 38737235A> G null R G 311 311 missense 0.945 probably damaging 0.6 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs200985360 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38737237A> T null R S 311 311 2.0E-4 missense 0.945 probably damaging 0.68 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629258 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1189697219 6p21.2 6 38737241C> G null L V 313 313 missense 0.881 possibly damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1477705354 6p21.2 6 38737245C> T null S L 314 314 missense 0.003 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770149834 6p21.2 6 38737247T> A null F I 315 315 missense 0.246 benign 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs567584262 6p21.2 6 38737809G> A null G D 318 318 2.0E-4 missense 0.009 benign 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs567584262 6p21.2 6 38737809G> T null G V 318 318 2.0E-4 missense 0.402 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs757946681 6p21.2 6 38737814A> G null R G 320 320 missense 0.0 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs899809874 6p21.2 6 38737824T> C null I T 323 323 missense 0.005 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763828744 6p21.2 6 38737826G> C null E Q 324 324 missense 0.281 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs756498084 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38737830G> A null G E 325 325 missense 0.732 possibly damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs1582867594 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38737839A> G null K R 328 328 missense 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000822201 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780454556 6p21.2 6 38737842T> C null L S 329 329 missense 0.353 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs143492695 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38737847A> G null T A 331 331 missense 0.007 benign 0.58 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000457964 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1463520755 6p21.2 6 38737857A> G null N S 334 334 missense 0.068 benign 0.95 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs111566149 6p21.2 6 38737863A> G null N S 336 336 missense 0.018 benign 0.28 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs111566149 6p21.2 6 38737863A> C null N T 336 336 missense 0.04 benign 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1466099903 6p21.2 6 38737866T> G null F C 337 337 missense 0.839 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs772095746 6p21.2 6 38737872A> G null K R 339 339 missense 0.005 benign 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747257406 6p21.2 6 38737877C> T null H Y 341 341 missense 0.108 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770743086 6p21.2 6 38737880A> G null T A 342 342 missense 0.026 benign 0.47 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs137954757 6p21.2 6 38737884T> C null F S 343 343 5.99E-4 missense 0.686 possibly damaging 0.49 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1367000930 6p21.2 6 38737890A> T null E V 345 345 missense 0.038 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs143368533 6p21.2 6 38737892G> A null V I 346 346 missense 0.021 benign 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1323128949 6p21.2 6 38737901G> A null A T 349 349 missense 0.919 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1194003481 6p21.2 6 38737902C> T null A V 349 349 missense 0.23 benign 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1331951067 6p21.2 6 38737905C> T null A V 350 350 missense 0.056 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs762501541 6p21.2 6 38737907A> G null S G 351 351 missense 0.0 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763579484 6p21.2 6 38737911A> T null N I 352 352 missense 0.1 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751210553 6p21.2 6 38737912C> G null N K 352 352 missense 0.068 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763579484 6p21.2 6 38737911A> G null N S 352 352 missense 0.003 benign 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1376514856 6p21.2 6 38737914C> G null S * 353 353 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1268700173 6p21.2 6 38737920C> T null T I 355 355 missense 0.041 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756876172 6p21.2 6 38737923T> C null V A 356 356 missense 0.133 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1207890931 6p21.2 6 38737926A> G null H R 357 357 missense 0.0 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs376791268 6p21.2 6 38737938A> C null E A 361 361 missense 0.003 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs376791268 6p21.2 6 38737938A> G null E G 361 361 missense 0.068 benign 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs759859299 6p21.2 6 38737940G> T null V L 362 362 missense 0.021 benign 0.57 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1471980111 6p21.2 6 38737948G> A null M I 364 364 missense 0.075 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1414912825 6p21.2 6 38737956A> G null Y C 367 367 missense 0.999 probably damaging 0.72 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs138901149 6p21.2 6 38737967G> A null E K 371 371 missense 0.279 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1361360387 6p21.2 6 38741711G> A null V I 373 373 missense 0.085 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765653307 6p21.2 6 38741719T> G null I M 375 375 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759866696 6p21.2 6 38741718T> C null I T 375 375 missense 0.995 probably damaging 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,dbSNP,gnomAD rs552179604 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38741727A> G null E G 378 378 3.99E-4 missense 0.1 benign 0.03 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000706175 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1251890095 6p21.2 6 38741729C> T null Q * 379 379 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs758840030 6p21.2 6 38741730A> C null Q P 379 379 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777839170 6p21.2 6 38741736G> C null R T 381 381 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs559609199 6p21.2 6 38741742A> C null E A 383 383 2.0E-4 missense 0.133 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751620349 6p21.2 6 38741741G> A null E K 383 383 missense 0.007 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs141326848 6p21.2 6 38741757G> A null G D 388 388 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1389979247 6p21.2 6 38741756G> C null G R 388 388 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1389979247 6p21.2 6 38741756G> A null G S 388 388 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs141326848 6p21.2 6 38741757G> T null G V 388 388 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs867794988 6p21.2 6 38741759C> T null P S 389 389 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs867794988 6p21.2 6 38741759C> A null P T 389 389 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1357433165 6p21.2 6 38741766C> A null T N 391 391 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768508741 6p21.2 6 38741778A> G null H R 395 395 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1454349279 6p21.2 6 38741781G> A null W * 396 396 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs370751861 cosmic curated [Cosmic]: pancreas, [ClinVar]: Primary ciliary dyskinesia pubmed:24293293,cosmic_study:529 6p21.2 6 38741786C> T null R C 398 398 missense 0.685 possibly damaging 0.14 tolerated 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000234614 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1051264232 6p21.2 6 38741787G> A null R H 398 398 missense 0.001 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1051264232 6p21.2 6 38741787G> T null R L 398 398 missense 0.226 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs374073806 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38741790T> C null M T 399 399 missense 0.974 probably damaging 0.03 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000704214 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771614521 6p21.2 6 38741802T> G null F C 403 403 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772850492 6p21.2 6 38741804A> G null N D 404 404 missense 0.133 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs760373783 6p21.2 6 38741805A> G null N S 404 404 missense 0.007 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562612462 6p21.2 6 38741808A> G null Y C 405 405 missense 0.757 possibly damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1257078364 6p21.2 6 38741807T> C null Y H 405 405 missense 0.61 possibly damaging 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1207412760 6p21.2 6 38741814T> C null I T 407 407 missense 0.995 probably damaging 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765524511 6p21.2 6 38741825A> G null K E 411 411 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs867564649 6p21.2 6 38741828G> A null G R 412 412 missense 1.0 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1218388160 6p21.2 6 38741835G> C null S T 414 414 missense 0.003 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs866436515 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38741844C> A null A D 417 417 missense 0.999 probably damaging 0.43 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753004781 6p21.2 6 38741843G> A null A T 417 417 missense 0.998 probably damaging 0.48 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs763474060 6p21.2 6 38741853A> G null N S 420 420 missense 0.994 probably damaging 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764529157 6p21.2 6 38741864G> A null V I 424 424 missense 0.014 benign 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1176934751 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38741867G> A null A T 425 425 missense 0.304 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368095177 6p21.2 6 38741868C> T null A V 425 425 missense 0.013 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs757379846 6p21.2 6 38741871A> C null H P 426 426 missense 0.405 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs757379846 6p21.2 6 38741871A> G null H R 426 426 missense 0.003 benign 0.64 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs766167387 6p21.2 6 38741870C> T null H Y 426 426 missense 0.228 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs548191993 6p21.2 6 38741874C> T null S F 427 427 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs750616002 6p21.2 6 38741885A> G null K E 431 431 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1288111849 6p21.2 6 38750480G> T null W L 433 433 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367709378 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 6p21.2 6 38750482C> T null R C 434 434 missense 0.847 possibly damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs754133293 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38750483G> A null R H 434 434 missense 0.009 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs754133293 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38750483G> T null R L 434 434 missense 0.427 benign 0.03 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000536322 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778831256 6p21.2 6 38750497A> G null R G 439 439 missense 0.988 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs748017047 6p21.2 6 38750509A> G null T A 443 443 missense 0.052 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs758332333 6p21.2 6 38750510C> T null T I 443 443 missense 0.51 possibly damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs758332333 6p21.2 6 38750510C> G null T R 443 443 missense 0.432 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs892864091 6p21.2 6 38750515A> G null N D 445 445 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs892864091 6p21.2 6 38750515A> C null N H 445 445 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1178890483 6p21.2 6 38750516A> G null N S 445 445 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777221401 6p21.2 6 38750518G> T null E * 446 446 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746541575 6p21.2 6 38750520A> T null E D 446 446 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1163812722 6p21.2 6 38750521T> A null S T 447 447 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770521966 6p21.2 6 38750528A> G null D G 449 449 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs200355421 6p21.2 6 38750534T> C null V A 451 451 5.99E-4 missense 0.985 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs943639840 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38750538A> T null R S 452 452 missense 0.1 benign 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000549755 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768888575 6p21.2 6 38750545T> A null Y N 455 455 missense 0.51 possibly damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1236021253 6p21.2 6 38750552T> C null L S 457 457 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1011759039 6p21.2 6 38750570C> T null P L 463 463 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762370274 6p21.2 6 38750573T> C null L P 464 464 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1040338006 6p21.2 6 38750581C> G null H D 467 467 missense 0.074 benign 0.27 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1020386285 6p21.2 6 38750584G> C null D H 468 468 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs191702529 6p21.2 6 38755976C> T null S F 471 471 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770862847 6p21.2 6 38755980G> A null M I 472 472 missense 0.974 probably damaging 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1264002797 6p21.2 6 38755979T> C null M T 472 472 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs150780644 6p21.2 6 38755978A> G null M V 472 472 missense 0.959 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs776772658 6p21.2 6 38755981G> T null A S 473 473 missense 0.223 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs776772658 6p21.2 6 38755981G> A null A T 473 473 missense 0.013 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1386899515 6p21.2 6 38755991T> C null I T 476 476 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759633396 6p21.2 6 38755990A> G null I V 476 476 missense 0.976 probably damaging 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1319200347 6p21.2 6 38756000T> C null L S 479 479 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1434619181 6p21.2 6 38756005A> C null N H 481 481 missense 0.999 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs529544221 6p21.2 6 38756015G> A null R K 484 484 2.0E-4 missense 0.0 benign 0.5 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs755104748 6p21.2 6 38756017A> G null M V 485 485 missense 0.959 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1397284571 6p21.2 6 38756021T> G null I S 486 486 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs990219218 6p21.2 6 38756029G> A null V M 489 489 missense 0.784 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1326800915 6p21.2 6 38756036G> A null R K 491 491 missense 0.99 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1265006042 6p21.2 6 38756035A> T null R W 491 491 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs757231620 6p21.2 6 38756038T> C null Y H 492 492 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs780528860 6p21.2 6 38756042A> G null Y C 493 493 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed,gnomAD rs368961825 6p21.2 6 38756045A> G null N S 494 494 missense 0.994 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs150022614 6p21.2 6 38756048C> T null T I 495 495 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs150022614 6p21.2 6 38756048C> G null T S 495 495 missense 0.994 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1439731318 6p21.2 6 38756056A> T null R * 498 498 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562666258 6p21.2 6 38756070G> C null L F 502 502 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562666258 6p21.2 6 38756070G> T null L F 502 502 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs749017903 6p21.2 6 38756078A> G null K R 505 505 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767468885 6p21.2 6 38761702G> A null V I 506 506 missense 0.994 probably damaging 0.78 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1053193564 6p21.2 6 38761709A> G null N S 508 508 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1390694893 6p21.2 6 38761716G> A null M I 510 510 missense 0.974 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750365801 6p21.2 6 38761718T> A null V E 511 511 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755678677 6p21.2 6 38761723G> A null A T 513 513 missense 0.998 probably damaging 0.62 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1243152915 6p21.2 6 38761726T> C null C R 514 514 missense 0.265 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs189725873 6p21.2 6 38761732G> C null A P 516 516 2.0E-4 missense 0.999 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1313878483 6p21.2 6 38761733C> T null A V 516 516 missense 0.997 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778247413 6p21.2 6 38761736A> G null Y C 517 517 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61748600 6p21.2 6 38761735T> C null Y H 517 517 0.08387 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1386583924 6p21.2 6 38761738A> G null I V 518 518 missense 0.976 probably damaging 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1319914179 6p21.2 6 38761744G> A null D N 520 520 missense 0.998 probably damaging 0.79 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747426488 6p21.2 6 38761745A> T null D V 520 520 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1196883272 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38761748G> A null G E 521 521 missense 1.0 probably damaging 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1253355621 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38761750G> A null G R 522 522 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1408538785 6p21.2 6 38761760A> G null H R 525 525 missense 0.264 benign 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1386284760 6p21.2 6 38761765T> G null W G 527 527 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781704190 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 6p21.2 6 38761772A> G null Q R 529 529 missense 0.99 probably damaging 0.04 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs890072820 6p21.2 6 38761777A> G null T A 531 531 missense 0.068 benign 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs376907315 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38761778C> T null T M 531 531 missense 0.018 benign 0.09 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000695743 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775561557 6p21.2 6 38761790T> C null L P 535 535 missense 0.91 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749446329 6p21.2 6 38761793A> G null K R 536 536 missense 0.068 benign 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1398592956 6p21.2 6 38761795A> G null K E 537 537 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1207266323 6p21.2 6 38770413G> A null D N 540 540 missense 0.982 probably damaging 0.38 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1207266323 6p21.2 6 38770413G> T null D Y 540 540 missense 0.991 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749346482 cosmic curated [Cosmic]: liver cosmic_study:323 6p21.2 6 38770418C> A null C * 541 541 missense 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1349499892 6p21.2 6 38770417G> A null C Y 541 541 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1454966653 6p21.2 6 38770426T> C null L P 544 544 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1056745711 6p21.2 6 38770431A> G null K E 546 546 missense 0.204 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs267601009 6p21.2 6 38770434G> T null E * 547 547 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs112926656 6p21.2 6 38770435A> G null E G 547 547 missense 0.94 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774627328 6p21.2 6 38770438A> T null Y F 548 548 missense 0.147 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1265273251 6p21.2 6 38770440C> T null Q * 549 549 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1260848618 6p21.2 6 38770441A> C null Q P 549 549 missense 0.953 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748375168 6p21.2 6 38770443G> A null A T 550 550 missense 0.0 benign 0.57 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772883655 6p21.2 6 38770459C> T null T I 555 555 missense 0.003 benign 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1032074595 6p21.2 6 38770461A> G null R G 556 556 missense 0.144 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1247188381 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38770462G> A null R K 556 556 missense 0.001 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs753994535 6p21.2 6 38770474C> T null S L 560 560 missense 0.0 benign 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs370590661 6p21.2 6 38770476G> A null E K 561 561 missense 0.133 benign 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs370590661 6p21.2 6 38770476G> C null E Q 561 561 missense 0.311 benign 0.59 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1290274535 6p21.2 6 38770480C> T null S F 562 562 missense 0.784 possibly damaging 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1381901982 6p21.2 6 38770495C> A null S Y 567 567 missense 0.632 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1385917517 6p21.2 6 38770497T> G null F V 568 568 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1284446702 6p21.2 6 38770501A> C null E A 569 569 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs367805228 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38770511A> T null E D 572 572 2.0E-4 missense 0.994 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000463655 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1347893341 6p21.2 6 38770509G> C null E Q 572 572 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs764722886 6p21.2 6 38770513T> C null M T 573 573 missense 0.974 probably damaging 0.62 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759089510 6p21.2 6 38770512A> G null M V 573 573 missense 0.959 probably damaging 0.47 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1402109106 6p21.2 6 38770516A> G null Y C 574 574 missense 0.757 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs758001955 6p21.2 6 38770520A> G null I M 575 575 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1263958608 6p21.2 6 38770518A> G null I V 575 575 missense 0.976 probably damaging 0.3 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767857519 6p21.2 6 38770525G> A null G E 577 577 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767857519 6p21.2 6 38770525G> T null G V 577 577 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1271183567 6p21.2 6 38770529A> T null K N 578 578 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1481350475 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 38770531T> G null F C 579 579 missense 0.999 probably damaging 0.01 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562721084 6p21.2 6 38770530T> C null F L 579 579 missense 0.99 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1481350475 6p21.2 6 38770531T> C null F S 579 579 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1175428639 6p21.2 6 38770533_38770534insTA T null E V* 580 580 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1419528326 6p21.2 6 38770536G> A null A T 581 581 missense 0.998 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554205182 6p21.2 6 38770540T> G null F C 582 582 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1363369602 6p21.2 6 38770546A> G null K R 584 584 missense 0.996 probably damaging 0.78 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780507357 6p21.2 6 38770549G> A null R K 585 585 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs551431678 6p21.2 6 38770554G> C null E Q 587 587 2.0E-4 missense 0.997 probably damaging 0.3 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755070157 6p21.2 6 38770559G> C null K N 588 588 missense 0.94 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1284959800 6p21.2 6 38775754A> T null I F 589 589 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs752736988 6p21.2 6 38775756T> G null I M 589 589 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs778114356 6p21.2 6 38775766A> T null I L 593 593 missense 0.007 benign 0.57 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs138059948 6p21.2 6 38775773T> C null V A 595 595 2.0E-4 missense 0.043 benign 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770839298 6p21.2 6 38775775G> T null V L 596 596 missense 0.994 probably damaging 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs370147660 6p21.2 6 38775781A> T null T S 598 598 missense 0.133 benign 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs745753828 6p21.2 6 38775785A> G null Y C 599 599 missense 0.812 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562741133 6p21.2 6 38775790A> G null T A 601 601 missense 0.0 benign 0.93 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP rs377235708 6p21.2 6 38775795G> T null L F 602 602 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,NCI-TCGA rs538032199 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38775797G> A null S N 603 603 2.0E-4 missense 0.001 benign 0.53 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775016069 6p21.2 6 38775805A> G null T A 606 606 missense 0.133 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs762338880 6p21.2 6 38775808A> G null I V 607 607 missense 0.976 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs910311184 6p21.2 6 38775826A> T null M L 613 613 missense 0.0 benign 0.81 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1419649182 6p21.2 6 38775830C> T null A V 614 614 missense 0.189 benign 0.59 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1368161666 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary cosmic_study:331 6p21.2 6 38775832A> G null I V 615 615 missense 0.976 probably damaging 0.37 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761466636 6p21.2 6 38775836A> G null K R 616 616 missense 0.996 probably damaging 0.51 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs571596846 6p21.2 6 38775841A> G null R G 618 618 2.0E-4 missense 0.007 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754229085 6p21.2 6 38775845A> G null N S 619 619 missense 0.036 benign 0.99 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs146884052 6p21.2 6 38775848T> G null I R 620 620 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs146884052 6p21.2 6 38775848T> C null I T 620 620 missense 0.948 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760036710 6p21.2 6 38775847A> G null I V 620 620 missense 0.769 possibly damaging 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1296936778 6p21.2 6 38775850T> C null Y H 621 621 missense 0.011 benign 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1461833955 6p21.2 6 38775853C> T null Q * 622 622 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1364192339 6p21.2 6 38775855A> C null Q H 622 622 missense 0.001 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1261256394 6p21.2 6 38775857G> T null G V 623 623 missense 0.888 possibly damaging 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs534270834 6p21.2 6 38775856G> T null G W 623 623 2.0E-4 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1371554492 6p21.2 6 38775859G> A null V I 624 624 missense 0.003 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs142965642 6p21.2 6 38775862A> G null K E 625 625 missense 0.083 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1022099211 6p21.2 6 38775872A> T null Q L 628 628 missense 0.001 benign 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1177422888 6p21.2 6 38775875A> G null Y C 629 629 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757558240 6p21.2 6 38775880A> C null I L 631 631 missense 0.047 benign 0.83 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757558240 6p21.2 6 38775880A> G null I V 631 631 missense 0.047 benign 0.64 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755976610 cosmic curated [Cosmic]: skin pubmed:22622578,cosmic_study:388 6p21.2 6 38775886G> A null D N 633 633 missense 0.998 probably damaging 0.13 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755976610 6p21.2 6 38775886G> T null D Y 633 633 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1199610661 6p21.2 6 38775890C> T null P L 634 634 missense 0.999 probably damaging 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779850498 6p21.2 6 38775899C> T null T I 637 637 missense 0.334 benign 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs779850498 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38775899C> G null T R 637 637 missense 0.988 probably damaging 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1470492374 6p21.2 6 38775908A> G null D G 640 640 missense 0.248 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs536718309 6p21.2 6 38775916T> C null F L 643 643 2.0E-4 missense 0.0 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs747756965 6p21.2 6 38775924T> A null D E 645 645 missense 0.001 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs771731052 6p21.2 6 38775930G> A null M I 647 647 missense 0.046 benign 0.43 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1319298414 6p21.2 6 38775928A> G null M V 647 647 missense 0.019 benign 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1275006878 6p21.2 6 38775935A> C null K T 649 649 missense 0.592 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772897238 6p21.2 6 38775938T> C null I T 650 650 missense 0.22 benign 0.38 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs375668014 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38775941A> G null N S 651 651 missense 0.0 benign 0.67 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000703007 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1224082470 6p21.2 6 38775946T> G null L V 653 653 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1276325008 6p21.2 6 38775949G> A null E K 654 654 missense 0.996 probably damaging 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1279744605 6p21.2 6 38778389T> G null V G 655 655 missense 0.51 possibly damaging 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1238108829 6p21.2 6 38778388G> A null V I 655 655 missense 0.001 benign 0.43 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771606558 6p21.2 6 38778397C> G null Q E 658 658 missense 0.985 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61748601 6p21.2 6 38778400G> T null A S 659 659 0.08526 missense 0.003 benign 0.78 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61748601 6p21.2 6 38778400G> A null A T 659 659 0.08526 missense 0.003 benign 0.79 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs769997917 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38778408G> A null M I 661 661 missense 0.974 probably damaging 0.62 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,gnomAD rs368267043 6p21.2 6 38778410A> G null N S 662 662 missense 0.011 benign 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1416476047 6p21.2 6 38778414T> G null S R 663 663 missense 0.265 benign 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763516063 6p21.2 6 38778430T> G null L V 669 669 missense 0.003 benign 0.52 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764720313 6p21.2 6 38778437C> T null S F 671 671 missense 0.684 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1394421241 6p21.2 6 38778440A> G null Q R 672 672 missense 0.99 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1163191109 6p21.2 6 38778453G> T null Q H 676 676 missense 0.005 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1401510479 6p21.2 6 38778454C> G null L V 677 677 missense 0.995 probably damaging 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775047700 6p21.2 6 38778458T> G null L R 678 678 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1168487014 6p21.2 6 38779968T> C null F S 681 681 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs769183418 6p21.2 6 38779967T> G null F V 681 681 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1402194681 6p21.2 6 38779972G> T null Q H 682 682 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed,gnomAD rs376309134 6p21.2 6 38779982A> C null I L 686 686 missense 0.014 benign 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs774984318 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38779985C> T null P S 687 687 missense 0.999 probably damaging 0.14 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000464581 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs774984318 6p21.2 6 38779985C> A null P T 687 687 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762629034 6p21.2 6 38779988T> C null C R 688 688 missense 0.998 probably damaging 0.51 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1022971595 6p21.2 6 38779989G> A null C Y 688 688 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1260619082 6p21.2 6 38779991C> A null L M 689 689 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1738254 6p21.2 6 38779994G> A null G R 690 690 0.2035 missense 0.0 benign 0.52 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs1189384115 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38780004T> C null I T 693 693 missense 0.995 probably damaging 0.57 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000800821 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs751395316 6p21.2 6 38780003A> G null I V 693 693 missense 0.976 probably damaging 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs200737379 6p21.2 6 38780009C> G null H D 695 695 missense 0.264 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs201894505 6p21.2 6 38780011C> G null H Q 695 695 missense 0.156 benign 0.41 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs766599968 6p21.2 6 38780010A> G null H R 695 695 missense 0.005 benign 0.46 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759318887 6p21.2 6 38780016T> C null I T 697 697 missense 0.226 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1261118458 6p21.2 6 38780015A> G null I V 697 697 missense 0.009 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs765078483 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 6p21.2 6 38780021C> T null R C 699 699 missense 0.685 possibly damaging 0.21 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs141983502 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia cosmic_study:376 6p21.2 6 38780022G> A null R H 699 699 5.99E-4 missense 0.441 benign 0.49 tolerated 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000813488 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765078483 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38780021C> A null R S 699 699 missense 0.119 benign 0.79 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs758338554 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38780026T> G null I M 700 700 missense 0.844 possibly damaging 0.06 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000693332 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777111315 6p21.2 6 38780027C> A null L I 701 701 missense 0.995 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1406549027 6p21.2 6 38780032G> C null Q H 702 702 missense 0.003 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751104202 6p21.2 6 38780037A> G null Y C 704 704 missense 0.999 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1286815814 6p21.2 6 38780052A> G null D G 709 709 missense 0.136 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs989035341 6p21.2 6 38780051G> C null D H 709 709 missense 0.531 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1306767179 6p21.2 6 38781261A> C null H P 716 716 missense 0.288 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145798237 6p21.2 6 38781264C> G null S C 717 717 5.99E-4 missense 0.83 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1317703164 6p21.2 6 38781263T> C null S P 717 717 missense 0.514 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554208586 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.2 6 38781266C> T null Q * 718 718 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs766948425 6p21.2 6 38781267A> T null Q L 718 718 missense 0.191 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1288344507 6p21.2 6 38781270A> C null K T 719 719 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs138373981 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38781273A> T null D V 720 720 missense 0.888 possibly damaging 0.12 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629436 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs201100607 6p21.2 6 38781282C> T null P L 723 723 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61757621 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38781288C> G null A G 725 725 5.99E-4 missense 0.997 probably damaging 0.2 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000461456 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs778334889 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38781290C> T null R C 726 726 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747524974 6p21.2 6 38781291G> A null R H 726 726 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747524974 6p21.2 6 38781291G> T null R L 726 726 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs144608736 6p21.2 6 38781298G> A null M I 728 728 missense 0.974 probably damaging 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1278387502 6p21.2 6 38781297T> C null M T 728 728 missense 0.974 probably damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746052496 6p21.2 6 38781296A> G null M V 728 728 missense 0.959 probably damaging 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs866179461 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38781299C> G null P A 729 729 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000701602 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs866179461 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38781299C> T null P S 729 729 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs532980633 6p21.2 6 38781307A> G null I M 731 731 2.0E-4 missense 0.426 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368357323 6p21.2 6 38781305A> G null I V 731 731 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs774286485 6p21.2 6 38781312G> A null G E 733 733 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767096237 6p21.2 6 38781320C> T null L F 736 736 missense 0.999 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1250489452 6p21.2 6 38781327T> A null V E 738 738 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1202359936 6p21.2 6 38781326G> A null V M 738 738 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1193834845 6p21.2 6 38781329A> G null R G 739 739 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755731536 6p21.2 6 38781330G> A null R K 739 739 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1180094502 6p21.2 6 38781334G> C null Q H 740 740 missense 0.997 probably damaging 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs766094006 6p21.2 6 38781338T> C null Y H 742 742 missense 0.684 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs753499080 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38781341C> T null R C 743 743 missense 0.685 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs758774116 6p21.2 6 38781344C> G null R G 744 744 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,gnomAD rs546652224 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38781345G> A null R Q 744 744 2.0E-4 missense 0.996 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs758774116 6p21.2 6 38781344C> T null R W 744 744 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs910851042 6p21.2 6 38781354A> G null E G 747 747 missense 0.189 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs781203182 6p21.2 6 38781357C> T null P L 748 748 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1467547966 6p21.2 6 38781362A> G null N D 750 750 missense 0.003 benign 0.75 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1334942947 6p21.2 6 38781363A> G null N S 750 750 missense 0.068 benign 0.53 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1374972507 6p21.2 6 38783004A> G null K E 754 754 missense 0.061 benign 0.51 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1328382410 6p21.2 6 38783008A> T null N I 755 755 missense 0.999 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753469141 6p21.2 6 38783019T> G null L V 759 759 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs199804814 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia cosmic_study:376 6p21.2 6 38783029C> T null P L 762 762 missense 0.0 benign 0.1 tolerated 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000805574 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs199804814 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38783029C> A null P Q 762 762 missense 0.14 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781642105 6p21.2 6 38783035G> A null G D 764 764 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199536824 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38783034G> A null G S 764 764 5.99E-4 missense 1.0 probably damaging 0.3 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs571479487 6p21.2 6 38783044T> C null V A 767 767 2.0E-4 missense 0.881 possibly damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs921657030 6p21.2 6 38783047T> A null I N 768 768 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs780122329 6p21.2 6 38783046A> G null I V 768 768 missense 0.976 probably damaging 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs533818443 cosmic curated [Cosmic]: liver cosmic_study:323 6p21.2 6 38783049C> T null R C 769 769 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs768782343 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38783050G> A null R H 769 769 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768782343 6p21.2 6 38783050G> T null R L 769 769 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1263311591 6p21.2 6 38783052C> T null Q * 770 770 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1252107840 6p21.2 6 38783053A> G null Q R 770 770 missense 0.147 benign 0.48 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs140061071 6p21.2 6 38783056A> G null Y C 771 771 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1347873868 6p21.2 6 38783059A> G null N S 772 772 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1197903942 6p21.2 6 38783067T> G null S A 775 775 missense 0.003 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1177355119 6p21.2 6 38783068C> T null S F 775 775 missense 0.684 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747862687 6p21.2 6 38783071A> G null Y C 776 776 missense 0.999 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1406007553 6p21.2 6 38783074T> C null V A 777 777 missense 0.005 benign 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1174515801 6p21.2 6 38783073G> C null V L 777 777 missense 0.021 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs760698318 6p21.2 6 38783088G> A null E K 782 782 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs202222826 6p21.2 6 38783098A> G null Y C 785 785 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs756762480 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38783106G> C null A P 788 788 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs756762480 6p21.2 6 38783106G> T null A S 788 788 missense 0.997 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3823430 pubmed:12297094 6p21.2 6 38783112A> G null I V 790 790 0.1813 missense 0.0 benign 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs146311829 6p21.2 6 38783115A> G null R G 791 791 missense 0.068 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1436991070 6p21.2 6 38783122T> A null I N 793 793 missense 0.603 possibly damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs770668255 6p21.2 6 38783125C> T null S L 794 794 missense 0.133 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,gnomAD rs139248988 6p21.2 6 38783127C> T null Q * 795 795 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs940191116 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.2 6 38783134A> G null H R 797 797 missense 0.029 benign 0.56 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767930161 6p21.2 6 38783139G> C null A P 799 799 missense 0.993 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767930161 6p21.2 6 38783139G> T null A S 799 799 missense 0.954 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs767930161 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38783139G> A null A T 799 799 missense 0.972 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1395875588 6p21.2 6 38786765C> T null A V 799 799 missense 0.97 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs78686644 6p21.2 6 38786770C> T null Q * 801 801 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs78686644 6p21.2 6 38786770C> A null Q K 801 801 missense 0.854 possibly damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746906348 6p21.2 6 38786771A> G null Q R 801 801 missense 0.899 possibly damaging 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1425821148 6p21.2 6 38786774C> G null A G 802 802 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200838286 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38786777C> T null T M 803 803 2.0E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs200838286 6p21.2 6 38786777C> G null T R 803 803 2.0E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs567050969 [ClinVar]: Kartagener syndrome, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:24307375 6p21.2 6 38786788C> T null R * 807 807 2.0E-4 stop gained 0 Kartagener syndrome (CILD1) MIM:244400 pubmed:20301301,ClinVar:RCV000190949 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1325804996 6p21.2 6 38786789G> A null R Q 807 807 missense 0.996 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774992093 6p21.2 6 38786795C> T null P L 809 809 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562781960 6p21.2 6 38786798A> G null E G 810 810 missense 0.997 probably damaging 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs888196252 6p21.2 6 38786803G> A null G R 812 812 missense 1.0 probably damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762609369 6p21.2 6 38786811G> C null L F 814 814 missense 0.999 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762609369 6p21.2 6 38786811G> T null L F 814 814 missense 0.999 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761076754 6p21.2 6 38786823C> A null F L 818 818 missense 0.99 probably damaging 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs766763431 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:452 6p21.2 6 38786824G> A null D N 819 819 missense 0.998 probably damaging 0.03 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1322197957 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:416 6p21.2 6 38786827C> T null P S 820 820 missense 0.329 benign 0.09 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754431773 6p21.2 6 38786830A> C null K Q 821 821 missense 0.998 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1199608727 6p21.2 6 38786839G> A null E K 824 824 missense 0.996 probably damaging 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1260427078 6p21.2 6 38786845G> T null V F 826 826 missense 0.999 probably damaging 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1260427078 6p21.2 6 38786845G> A null V I 826 826 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765369792 6p21.2 6 38786849G> A null R Q 827 827 missense 0.996 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs1738248 6p21.2 6 38786848C> T null R W 827 827 2.0E-4 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1256933123 6p21.2 6 38786851G> A null E K 828 828 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752897644 6p21.2 6 38786854A> G null T A 829 829 missense 0.994 probably damaging 0.59 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs1562782355 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38786858_38786859de l null K null 830 830 frameshift 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000689710 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs758728603 6p21.2 6 38786863A> G null M V 832 832 missense 0.959 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1236441951 6p21.2 6 38786873T> C null M T 835 835 missense 0.135 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1477474459 6p21.2 6 38786883T> G null D E 838 838 missense 0.001 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777664096 6p21.2 6 38786882A> G null D G 838 838 missense 0.193 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777664096 6p21.2 6 38786882A> T null D V 838 838 missense 0.313 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1171046116 6p21.2 6 38786884G> A null V I 839 839 missense 0.994 probably damaging 0.49 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746781813 6p21.2 6 38786888C> T null P L 840 840 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1425528912 6p21.2 6 38786887C> T null P S 840 840 missense 0.999 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1425528912 6p21.2 6 38786887C> A null P T 840 840 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1402257419 6p21.2 6 38786891A> C null E A 841 841 missense 0.178 benign 0.27 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs745876485 6p21.2 6 38786893C> T null Q * 842 842 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1340407009 6p21.2 6 38786894A> G null Q R 842 842 missense 0.046 benign 0.57 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774986794 6p21.2 6 38786897C> A null A E 843 843 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1490165855 6p21.2 6 38786896G> T null A S 843 843 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748889760 6p21.2 6 38786906T> G null L W 846 846 missense 0.812 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs117061525 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38786918A> G null E G 850 850 0.005591 missense 0.997 probably damaging 0.09 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000225944 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs998813558 6p21.2 6 38786920A> G null S G 851 851 missense 0.068 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1271804469 6p21.2 6 38786921G> A null S N 851 851 missense 0.003 benign 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761021867 6p21.2 6 38786932G> A null A T 855 855 missense 0.068 benign 0.6 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1203413148 6p21.2 6 38786933C> T null A V 855 855 missense 0.003 benign 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1469790244 6p21.2 6 38786936A> G null D G 856 856 missense 0.243 benign 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1487890468 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38786945A> T null Y F 859 859 missense 0.123 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs776941636 6p21.2 6 38786949G> T null L F 860 860 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1479357113 6p21.2 6 38786950C> T null Q * 861 861 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1479357113 6p21.2 6 38786950C> G null Q E 861 861 missense 0.001 benign 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1174888938 6p21.2 6 38786952G> T null Q H 861 861 missense 0.632 possibly damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs144797040 6p21.2 6 38789816A> G null Y C 866 866 missense 0.001 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs776183547 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.2 6 38789819A> G null Y C 867 867 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1308861071 6p21.2 6 38789824G> A null E K 869 869 missense 0.005 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1377712795 6p21.2 6 38789829A> T null L F 870 870 missense 0.999 probably damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1354978930 6p21.2 6 38789830T> C null C R 871 871 missense 0.998 probably damaging 0.48 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45529837 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38789839G> A null V M 874 874 0.02097 missense 0.999 probably damaging 0.11 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000470599 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764327756 6p21.2 6 38789854G> A null V I 879 879 missense 0.009 benign 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1235609260 6p21.2 6 38789864T> G null M R 882 882 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751774239 6p21.2 6 38789866A> G null T A 883 883 missense 0.0 benign 0.79 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1338995929 6p21.2 6 38789867C> T null T I 883 883 missense 0.134 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767179124 6p21.2 6 38789870C> T null P L 884 884 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755900871 6p21.2 6 38789876T> C null M T 886 886 missense 0.0 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1055070416 6p21.2 6 38789881A> G null K E 888 888 missense 0.132 benign 0.27 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1400890382 6p21.2 6 38789883G> C null K N 888 888 missense 0.281 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779961428 6p21.2 6 38789882A> C null K T 888 888 missense 0.357 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753704728 6p21.2 6 38790294A> C null E D 890 890 missense 0.994 probably damaging 0.67 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,gnomAD rs145862170 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38790292G> A null E K 890 890 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs890134081 6p21.2 6 38790296C> T null S F 891 891 missense 0.003 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs754937417 6p21.2 6 38790299T> C null V A 892 892 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs754937417 6p21.2 6 38790299T> G null V G 892 892 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1448911305 6p21.2 6 38790298G> A null V M 892 892 missense 0.999 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752232309 6p21.2 6 38790305G> A null R K 894 894 missense 0.003 benign 0.62 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1277321887 6p21.2 6 38790307C> T null Q * 895 895 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs112679495 6p21.2 6 38790308A> G null Q R 895 895 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1220055201 6p21.2 6 38790311G> A null G E 896 896 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757889674 6p21.2 6 38790310G> A null G R 896 896 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1197384412 6p21.2 6 38790314T> C null L P 897 897 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1479526727 6p21.2 6 38790313C> G null L V 897 897 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1441512771 6p21.2 6 38790316A> G null T A 898 898 missense 0.013 benign 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1238710633 6p21.2 6 38790320T> C null V A 899 899 missense 0.1 benign 0.78 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1210165593 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38790319G> A null V M 899 899 missense 0.355 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1339482369 6p21.2 6 38790329G> C null W S 902 902 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs569365870 6p21.2 6 38790332C> T null S L 903 903 9.98E-4 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746701565 6p21.2 6 38790331T> C null S P 903 903 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749774007 6p21.2 6 38790338T> C null L S 905 905 missense 0.999 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs769310274 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38790340A> G null T A 906 906 missense 0.133 benign 0.02 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000699260 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1164779096 6p21.2 6 38790348A> C null E D 908 908 missense 0.007 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs772099828 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38790367G> A null E K 915 915 missense 0.072 benign 0.78 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773425594 6p21.2 6 38790374T> C null V A 917 917 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs559075687 6p21.2 6 38790380A> G null D G 919 919 2.0E-4 missense 0.0 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1340873314 6p21.2 6 38790383T> A null M K 920 920 missense 0.983 probably damaging 0.56 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1340873314 6p21.2 6 38790383T> C null M T 920 920 missense 0.974 probably damaging 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs12663315 6p21.2 6 38790386T> G null F C 921 921 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs766119651 6p21.2 6 38790385T> C null F L 921 921 missense 0.99 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759373980 6p21.2 6 38790401A> G null K R 926 926 missense 0.996 probably damaging 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765192141 6p21.2 6 38790404A> C null K T 927 927 missense 0.003 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1208591601 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38791566G> C null L F 931 931 missense 0.619 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759325051 6p21.2 6 38791564T> G null L V 931 931 missense 0.317 benign 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs915582078 6p21.2 6 38791568G> A null C Y 932 932 missense 0.784 possibly damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562799254 6p21.2 6 38791575G> A null M I 934 934 missense 0.974 probably damaging 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150379318 6p21.2 6 38791577A> G null H R 935 935 3.99E-4 missense 0.046 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200401493 6p21.2 6 38791591C> A null L M 940 940 2.0E-4 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200401493 6p21.2 6 38791591C> G null L V 940 940 2.0E-4 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751137902 6p21.2 6 38791595A> G null K R 941 941 missense 0.996 probably damaging 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1678674 6p21.2 6 38791603G> A null A T 944 944 0.1214 missense 0.013 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767272246 6p21.2 6 38791610C> A null T N 946 946 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767272246 6p21.2 6 38791610C> G null T S 946 946 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755335372 6p21.2 6 38791613T> G null V G 947 947 missense 0.1 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1161461204 6p21.2 6 38791630G> C null E Q 953 953 missense 0.311 benign 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs142581907 6p21.2 6 38791633A> G null S G 954 954 missense 0.0 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1419078544 6p21.2 6 38791637G> A null G D 955 955 missense 1.0 probably damaging 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778390129 6p21.2 6 38791636G> A null G S 955 955 missense 1.0 probably damaging 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs747057985 6p21.2 6 38791639G> T null A S 956 956 missense 0.223 benign 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1397624511 6p21.2 6 38791648G> T null V L 959 959 missense 0.005 benign 0.51 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1445586140 6p21.2 6 38791652A> C null E A 960 960 missense 0.267 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1300182990 6p21.2 6 38791655A> G null D G 961 961 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1251689327 6p21.2 6 38791658T> A null M K 962 962 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781382055 6p21.2 6 38791657A> G null M V 962 962 missense 0.959 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs557671097 6p21.2 6 38791664C> T null T I 964 964 2.0E-4 missense 0.134 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs144805357 6p21.2 6 38791666C> T null L F 965 965 missense 0.474 possibly damaging 0.53 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs892710478 6p21.2 6 38791667T> G null L R 965 965 missense 0.784 possibly damaging 0.75 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775179967 6p21.2 6 38791670A> G null N S 966 966 missense 0.994 probably damaging 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1341523887 6p21.2 6 38803180C> G null T R 968 968 missense 0.23 benign 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs769934728 6p21.2 6 38803184C> G null Y * 969 969 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1246842086 6p21.2 6 38803186C> G null T R 970 970 missense 0.999 probably damaging 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1314787020 6p21.2 6 38803188A> G null K E 971 971 missense 0.005 benign 0.58 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780376103 6p21.2 6 38803191G> C null E Q 972 972 missense 0.997 probably damaging 0.27 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139961713 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38803192A> T null E V 972 972 0.01558 missense 0.998 probably damaging 0.12 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000210503 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767180208 6p21.2 6 38803196G> A null W * 973 973 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774370739 6p21.2 6 38803198C> G null A G 974 974 missense 0.0 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1256954621 6p21.2 6 38803200G> T null D Y 975 975 missense 0.698 possibly damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761842930 6p21.2 6 38803210A> C null N T 978 978 missense 0.996 probably damaging 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs142078696 6p21.2 6 38803214C> G null H Q 979 979 missense 0.246 benign 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771663428 6p21.2 6 38803212C> T null H Y 979 979 missense 0.466 possibly damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1477402405 6p21.2 6 38803216A> G null K R 980 980 missense 0.996 probably damaging 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1171155557 6p21.2 6 38803221A> G null K E 982 982 missense 0.068 benign 0.99 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs770372463 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38803226du p null V null 984 984 frameshift 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629354 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs148508759 6p21.2 6 38803237C> A null A D 987 987 missense 0.732 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,NCI-TCGA rs749933430 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38803236G> A null A T 987 987 missense 0.542 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs148508759 6p21.2 6 38803237C> T null A V 987 987 missense 0.701 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs111845489 6p21.2 6 38803240T> C null V A 988 988 missense 0.994 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562839341 6p21.2 6 38803253A> G null I M 992 992 missense 0.299 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141818413 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38803257A> T null I L 994 994 3.99E-4 missense 0.976 probably damaging 0.76 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000457792 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1169034096 6p21.2 6 38803264A> C null E A 996 996 missense 0.996 probably damaging 0.52 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1428437696 6p21.2 6 38803267A> C null Q P 997 997 missense 0.054 benign 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs944837198 6p21.2 6 38803273A> T null Y F 999 999 missense 0.994 probably damaging 0.56 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs763215779 6p21.2 6 38803277A> C null E D 1000 1000 missense 0.147 benign 0.58 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1400940083 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38803275G> C null E Q 1000 1000 missense 0.956 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs562397332 6p21.2 6 38803282A> G null K R 1002 1002 2.0E-4 missense 0.996 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP,gnomAD rs1376949943 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38803291G> A null G E 1005 1005 missense 0.1 benign 0.77 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629331 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751997357 6p21.2 6 38803293A> G null K E 1006 1006 missense 0.003 benign 0.55 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs200071000 6p21.2 6 38803294A> G null K R 1006 1006 missense 0.003 benign 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767539664 6p21.2 6 38803297T> G null V G 1007 1007 missense 0.0 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1283738605 6p21.2 6 38803303A> G null K R 1009 1009 missense 0.011 benign 0.46 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1263601293 6p21.2 6 38803311G> A null E K 1012 1012 missense 0.383 benign 0.61 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1161997107 6p21.2 6 38805483C> A null Q K 1013 1013 missense 0.017 benign 0.56 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375687323 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38805487G> A null R Q 1014 1014 missense 0.001 benign 0.43 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372630464 6p21.2 6 38805486C> T null R W 1014 1014 missense 0.59 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs200355671 6p21.2 6 38805491A> C null K N 1015 1015 missense 0.998 probably damaging 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs997370856 6p21.2 6 38805496T> C null V A 1017 1017 missense 0.994 probably damaging 0.77 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs112491228 NCI-TCGA Cosmic [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23525077,cosmic_study:464 6p21.2 6 38805495G> A null V I 1017 1017 missense 0.994 probably damaging 0.37 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1297672881 6p21.2 6 38805501T> C null F L 1019 1019 missense 0.99 probably damaging 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs902849215 6p21.2 6 38805505G> A null G E 1020 1020 missense 1.0 probably damaging 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs865933270 6p21.2 6 38805507A> G null S G 1021 1021 missense 0.0 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1330747810 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38805510G> A null E K 1022 1022 missense 0.108 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1385617491 6p21.2 6 38805513A> G null T A 1023 1023 missense 0.0 benign 0.72 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs874808 pubmed:12297094 6p21.2 6 38805517G> A null G E 1024 1024 0.475 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1319882935 6p21.2 6 38805520A> G null E G 1025 1025 missense 0.068 benign 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs769418820 6p21.2 6 38805519G> A null E K 1025 1025 missense 0.068 benign 0.56 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775166742 6p21.2 6 38805523G> A null G D 1026 1026 missense 0.1 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775166742 6p21.2 6 38805523G> T null G V 1026 1026 missense 0.003 benign 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1273582114 6p21.2 6 38805529A> G null N S 1028 1028 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1475993880 6p21.2 6 38805532A> G null N S 1029 1029 missense 0.0 benign 0.79 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1192343334 6p21.2 6 38805535A> T null D V 1030 1030 missense 0.1 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773523082 6p21.2 6 38805538A> T null Y F 1031 1031 missense 0.003 benign 0.66 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761273361 6p21.2 6 38805541A> C null E A 1032 1032 missense 0.1 benign 0.52 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1480696575 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38805549A> G null I V 1035 1035 missense 0.0 benign 0.65 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1179439042 6p21.2 6 38805562T> G null F C 1039 1039 missense 0.005 benign 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs190247264 6p21.2 6 38805572T> G null H Q 1042 1042 3.99E-4 missense 0.0 benign 0.47 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1412212297 6p21.2 6 38805570C> T null H Y 1042 1042 missense 0.001 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs573755164 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38805575T> A null D E 1043 1043 missense 0.001 benign 0.69 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000537231 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs546536222 6p21.2 6 38805574A> T null D V 1043 1043 5.99E-4 missense 0.429 benign 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs533179338 6p21.2 6 38805573G> T null D Y 1043 1043 5.99E-4 missense 0.28 benign 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs763247724 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38805576_38805578de l null K null 1044 1044 inframe deletion 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629361 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs144912598 6p21.2 6 38805583A> G null D G 1046 1046 missense 0.423 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1008063656 6p21.2 6 38807610G> C null E Q 1051 1051 missense 0.802 possibly damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1397855965 6p21.2 6 38807613T> G null C G 1052 1052 missense 0.707 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs373886534 6p21.2 6 38807614G> A null C Y 1052 1052 missense 0.784 possibly damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759673327 6p21.2 6 38807620A> C null E A 1054 1054 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs752902011 6p21.2 6 38807622G> T null V F 1055 1055 missense 0.402 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1286935384 6p21.2 6 38807628G> A null A T 1057 1057 missense 0.431 benign 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763749116 6p21.2 6 38807638C> G null S C 1060 1060 missense 0.745 possibly damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757046068 6p21.2 6 38807650T> C null L P 1064 1064 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs750421296 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.2 6 38807658C> T null L F 1067 1067 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs926965495 6p21.2 6 38807665A> G null K R 1069 1069 missense 0.423 benign 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs926965495 6p21.2 6 38807665A> C null K T 1069 1069 missense 0.766 possibly damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201654193 6p21.2 6 38807674G> T null R L 1072 1072 3.99E-4 missense 0.082 benign 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201654193 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38807674G> A null R Q 1072 1072 3.99E-4 missense 0.003 benign 0.03 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629479 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs755566659 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Primary ciliary dyskinesia, [Cosmic]: lung cosmic_study:323,cosmic_study:417 6p21.2 6 38807673C> T null R W 1072 1072 missense 0.59 possibly damaging 0.01 deleterious 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629475 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768327990 6p21.2 6 38807683T> C null L P 1075 1075 missense 0.831 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1369821470 6p21.2 6 38807693G> A null M I 1078 1078 missense 0.028 benign 0.71 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1426079117 6p21.2 6 38807691A> G null M V 1078 1078 missense 0.031 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747393955 6p21.2 6 38807697A> T null R * 1080 1080 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1260206894 6p21.2 6 38807707T> C null F S 1083 1083 missense 0.514 possibly damaging 0.49 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs371088304 6p21.2 6 38807710T> A null V D 1084 1084 missense 0.125 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs972369581 6p21.2 6 38807712G> T null A S 1085 1085 missense 0.001 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770402144 6p21.2 6 38814055C> T null L F 1087 1087 missense 0.012 benign 0.7 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs776181724 6p21.2 6 38814059A> T null Y F 1088 1088 missense 0.0 benign 0.66 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1416964895 6p21.2 6 38814061G> A null G R 1089 1089 missense 1.0 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs199969537 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.2 6 38814064C> T null R * 1090 1090 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs774576655 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38814065G> A null R Q 1090 1090 missense 0.001 benign 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs780903706 6p21.2 6 38814070C> G null Q E 1092 1092 missense 0.012 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs74575227 6p21.2 6 38814080A> G null D G 1095 1095 2.0E-4 missense 0.003 benign 0.64 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs74575227 6p21.2 6 38814080A> T null D V 1095 1095 2.0E-4 missense 0.558 possibly damaging 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs761948627 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38814079G> T null D Y 1095 1095 missense 0.795 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1337982532 6p21.2 6 38814083T> C null I T 1096 1096 missense 0.1 benign 0.72 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs147941001 6p21.2 6 38814085A> G null I V 1097 1097 missense 0.0 benign 0.87 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs553578959 6p21.2 6 38814089C> G null S C 1098 1098 2.0E-4 missense 0.698 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,gnomAD rs553578959 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38814089C> T null S F 1098 1098 2.0E-4 missense 0.632 possibly damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562876432 6p21.2 6 38814088T> A null S T 1098 1098 missense 0.108 benign 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs754452292 6p21.2 6 38814091T> C null F L 1099 1099 missense 0.007 benign 0.78 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764655921 6p21.2 6 38814095T> C null I T 1100 1100 missense 0.246 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs758010350 6p21.2 6 38814110A> G null H R 1105 1105 missense 0.995 probably damaging 0.57 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs752353072 6p21.2 6 38814109C> T null H Y 1105 1105 missense 0.993 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1252775585 6p21.2 6 38814116C> T null A V 1107 1107 missense 0.013 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777618650 6p21.2 6 38814118A> G null I V 1108 1108 missense 0.976 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1260848543 6p21.2 6 38814121C> T null P S 1109 1109 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746205065 6p21.2 6 38814126T> A null N K 1110 1110 missense 0.204 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1231994732 6p21.2 6 38815474A> G null I V 1114 1114 missense 0.0 benign 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs754333679 6p21.2 6 38815478C> T null P L 1115 1115 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1275665035 6p21.2 6 38815486G> T null D Y 1118 1118 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755414582 6p21.2 6 38815490A> T null D V 1119 1119 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748168815 6p21.2 6 38815494T> G null I M 1120 1120 missense 0.998 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61757622 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38815493T> C null I T 1120 1120 0.001398 missense 0.995 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000474242 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1455950524 6p21.2 6 38815492A> G null I V 1120 1120 missense 0.976 probably damaging 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs200670267 6p21.2 6 38815495C> A null Q K 1121 1121 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777914101 6p21.2 6 38815498C> A null Q K 1122 1122 missense 0.985 probably damaging 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs747236022 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38815504A> G null I V 1124 1124 missense 0.976 probably damaging 0.43 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000707618 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs371440557 6p21.2 6 38815510C> T null R C 1126 1126 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs776311330 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38815511G> A null R H 1126 1126 missense 0.998 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000812117 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1329584445 6p21.2 6 38815514T> A null M K 1127 1127 missense 0.177 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1233605245 6p21.2 6 38815521G> T null Q H 1129 1129 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759426227 6p21.2 6 38815523T> C null L S 1130 1130 missense 0.661 possibly damaging 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145492929 6p21.2 6 38815526C> A null T N 1131 1131 2.0E-4 missense 0.781 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs370320041 6p21.2 6 38815528C> G null L V 1132 1132 missense 0.995 probably damaging 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562881452 6p21.2 6 38815534G> T null V F 1134 1134 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs763714234 6p21.2 6 38815538G> A null S N 1135 1135 missense 0.993 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1554218874 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38815547T> A null V E 1138 1138 missense 0.998 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000557568 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1263357570 6p21.2 6 38815546G> T null V L 1138 1138 missense 0.994 probably damaging 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1416527874 6p21.2 6 38815549G> A null A T 1139 1139 missense 0.998 probably damaging 0.44 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs377516809 6p21.2 6 38815553A> G null H R 1140 1140 0.007987 missense 0.514 possibly damaging 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs754117748 6p21.2 6 38815557G> A null W * 1141 1141 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs754117748 6p21.2 6 38815557G> C null W C 1141 1141 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1455966049 6p21.2 6 38815555T> C null W R 1141 1141 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs755433676 6p21.2 6 38815558G> A null G R 1142 1142 missense 1.0 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs980655511 6p21.2 6 38815564C> T null Q * 1144 1144 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs546140159 6p21.2 6 38815567C> G null Q E 1145 1145 2.0E-4 missense 0.029 benign 0.74 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs758406192 6p21.2 6 38815569A> T null Q H 1145 1145 missense 0.001 benign 0.49 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1326646337 6p21.2 6 38815570A> G null I V 1146 1146 missense 0.0 benign 0.69 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777860401 6p21.2 6 38815573C> T null R C 1147 1147 missense 0.768 possibly damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs960637197 NCI-TCGA Cosmic [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 6p21.2 6 38815574G> A null R H 1147 1147 missense 0.005 benign 0.41 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs367690985 6p21.2 6 38815582A> G null K E 1150 1150 missense 0.133 benign 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs111917060 6p21.2 6 38815588G> A null V I 1152 1152 missense 0.0 benign 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1239419536 6p21.2 6 38815600C> T null P S 1156 1156 missense 0.001 benign 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1400825356 6p21.2 6 38815613A> G null D G 1160 1160 missense 0.068 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769689406 6p21.2 6 38815616T> G null V G 1161 1161 missense 0.0 benign 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed rs201712851 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23204322,cosmic_study:442 6p21.2 6 38815615G> A null V M 1161 1161 missense 0.062 benign 0.31 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs766707325 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38815617_38815623de l null T null 1162 1162 frameshift 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629379 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1323158150 6p21.2 6 38815621C> G null H D 1163 1163 missense 0.029 benign 0.65 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775236937 6p21.2 6 38815622A> C null H P 1163 1163 missense 0.0 benign 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs976393468 6p21.2 6 38815624C> T null Q * 1164 1164 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1174993747 6p21.2 6 38815625A> G null Q R 1164 1164 missense 0.04 benign 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs921029861 6p21.2 6 38815629C> A null N K 1165 1165 missense 0.029 benign 0.78 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749245008 6p21.2 6 38815630A> G null T A 1166 1166 missense 0.0 benign 0.82 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1420207440 6p21.2 6 38815643T> C null L P 1170 1170 missense 0.0 benign 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1161659821 6p21.2 6 38815654G> A null E K 1174 1174 missense 0.068 benign 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs946418532 6p21.2 6 38815657A> G null R G 1175 1175 missense 0.0 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774493535 6p21.2 6 38822841C> A null S Y 1176 1176 missense 0.632 possibly damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372754063 6p21.2 6 38822844T> G null F C 1177 1177 missense 0.58 possibly damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1279134980 6p21.2 6 38822845T> G null F L 1177 1177 missense 0.026 benign 0.65 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372754063 6p21.2 6 38822844T> C null F S 1177 1177 missense 0.068 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs769982287 6p21.2 6 38822850A> G null E G 1179 1179 missense 0.379 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201917454 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38822852G> A null A T 1180 1180 missense 0.0 benign 0.59 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000537038 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs760404927 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.2 6 38822862C> T null A V 1183 1183 missense 0.003 benign 0.56 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775809056 6p21.2 6 38822866G> C null R S 1184 1184 missense 0.995 probably damaging 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs143431894 6p21.2 6 38822868A> T null K M 1185 1185 missense 0.931 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs868412104 6p21.2 6 38822870C> A null L M 1186 1186 missense 0.999 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs763348835 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 6p21.2 6 38822875G> T null K N 1187 1187 missense 0.436 benign 0.11 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs764580800 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38822883A> C null Y S 1190 1190 missense 0.661 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150925022 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38822885C> G null P A 1191 1191 2.0E-4 missense 0.304 benign 0.11 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000551654 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs369211011 6p21.2 6 38822886C> T null P L 1191 1191 missense 0.014 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150925022 6p21.2 6 38822885C> T null P S 1191 1191 2.0E-4 missense 0.73 possibly damaging 0.3 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756385686 6p21.2 6 38822889G> A null G E 1192 1192 missense 1.0 probably damaging 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs141147228 6p21.2 6 38822888G> A null G R 1192 1192 missense 1.0 probably damaging 0.38 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1214306208 6p21.2 6 38822891G> A null V I 1193 1193 missense 0.938 probably damaging 0.62 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1060501472 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38822895C> T null A V 1194 1194 missense 0.997 probably damaging 0.25 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000463398 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs572891728 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 6p21.2 6 38822901A> G null H R 1196 1196 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778934081 6p21.2 6 38822906G> A null D N 1198 1198 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778934081 6p21.2 6 38822906G> T null D Y 1198 1198 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs748098363 6p21.2 6 38822909A> T null I F 1199 1199 missense 0.488 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777363308 6p21.2 6 38822917G> T null K N 1201 1201 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771441470 6p21.2 6 38822916A> C null K T 1201 1201 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746549939 6p21.2 6 38822920G> T null L F 1202 1202 missense 0.707 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1157380033 6p21.2 6 38822918T> A null L M 1202 1202 missense 0.843 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1004468877 6p21.2 6 38822927C> T null L F 1205 1205 missense 0.999 probably damaging 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763291756 6p21.2 6 38822934C> A null S Y 1207 1207 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1486976807 6p21.2 6 38822936T> A null S T 1208 1208 missense 0.99 probably damaging 0.8 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1394617846 6p21.2 6 38822943T> C null V A 1210 1210 missense 0.133 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs769024310 6p21.2 6 38822942G> A null V I 1210 1210 missense 0.083 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1189490056 6p21.2 6 38822946A> G null N S 1211 1211 missense 0.994 probably damaging 0.74 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774774303 6p21.2 6 38822957A> G null K E 1215 1215 missense 0.178 benign 0.47 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs762415827 6p21.2 6 38822958A> G null K R 1215 1215 missense 0.178 benign 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs868651177 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38822976T> G null L R 1221 1221 missense 0.999 probably damaging 0.03 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000792398 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs144870469 6p21.2 6 38822979A> C null Q P 1222 1222 missense 0.506 possibly damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs144870469 6p21.2 6 38822979A> G null Q R 1222 1222 missense 0.246 benign 0.43 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1323301517 6p21.2 6 38822983C> G null D E 1223 1223 missense 0.003 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1421387136 6p21.2 6 38822982A> G null D G 1223 1223 missense 0.248 benign 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1369657395 6p21.2 6 38822988A> G null Q R 1225 1225 missense 0.046 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs999624710 6p21.2 6 38822991A> T null K M 1226 1226 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1283530435 6p21.2 6 38822994A> G null Y C 1227 1227 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754749739 6p21.2 6 38822997A> G null K R 1228 1228 missense 0.51 possibly damaging 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs138719382 6p21.2 6 38823000C> T null T I 1229 1229 missense 0.041 benign 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs201946936 6p21.2 6 38823005T> A null W R 1231 1231 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200239803 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38823017C> T null R C 1235 1235 missense 0.821 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs777609925 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38823018G> A null R H 1235 1235 missense 0.625 possibly damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs200239803 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.2 6 38823017C> A null R S 1235 1235 missense 0.303 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs201420305 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38823020G> C null D H 1236 1236 missense 0.015 benign 0.04 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000706920 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201420305 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:376,cosmic_study:418 6p21.2 6 38823020G> A null D N 1236 1236 missense 0.152 benign 0.23 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs745525934 6p21.2 6 38823023G> T null V L 1237 1237 missense 0.021 benign 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1415557019 6p21.2 6 38823033A> G null K R 1240 1240 missense 0.204 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs898719487 6p21.2 6 38823572C> T null A V 1244 1244 missense 0.439 benign 0.28 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs564472219 6p21.2 6 38823581C> T null P L 1247 1247 3.99E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756691539 6p21.2 6 38823587T> A null L Q 1249 1249 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1414194269 6p21.2 6 38823586C> G null L V 1249 1249 missense 0.995 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs185774108 6p21.2 6 38823590C> T null T I 1250 1250 2.0E-4 missense 0.353 benign 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1278727412 6p21.2 6 38823610C> A null L I 1257 1257 missense 0.995 probably damaging 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs962157263 6p21.2 6 38823615C> G null H Q 1258 1258 missense 0.1 benign 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP rs1258463187 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38823613C> T null H Y 1258 1258 missense 0.003 benign 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000815384 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs189744425 6p21.2 6 38823617A> G null Y C 1259 1259 3.99E-4 missense 0.812 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,gnomAD rs141695361 6p21.2 6 38823616T> C null Y H 1259 1259 missense 0.684 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1185565421 6p21.2 6 38823623C> T null T I 1261 1261 missense 0.998 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1416631904 6p21.2 6 38823628G> T null E * 1263 1263 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs755746336 6p21.2 6 38823632A> T null Q L 1264 1264 missense 0.357 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1331842599 6p21.2 6 38823634G> T null E * 1265 1265 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779616816 6p21.2 6 38823635A> G null E G 1265 1265 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1409866806 6p21.2 6 38823637A> T null I F 1266 1266 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1330207223 6p21.2 6 38823638T> G null I S 1266 1266 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772332577 6p21.2 6 38823641A> C null D A 1267 1267 missense 0.068 benign 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs773699478 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38823645G> T null E D 1268 1268 missense 0.013 benign 0.45 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000806182 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs771084644 6p21.2 6 38823655A> G null I V 1272 1272 missense 0.0 benign 0.58 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs375776680 6p21.2 6 38823659T> C null I T 1273 1273 missense 0.329 benign 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765550724 6p21.2 6 38823670G> A null A T 1277 1277 missense 0.414 benign 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775633963 6p21.2 6 38823677A> G null E G 1279 1279 missense 0.997 probably damaging 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1208393539 6p21.2 6 38823676G> A null E K 1279 1279 missense 0.996 probably damaging 0.64 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs762752794 6p21.2 6 38823683A> G null H R 1281 1281 missense 0.189 benign 0.43 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs562900966 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38826159C> T null P L 1284 1284 2.0E-4 missense 1.0 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1259181793 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38826163G> A null M I 1285 1285 missense 0.019 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1038774938 6p21.2 6 38826166A> C null K N 1286 1286 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769776767 6p21.2 6 38826168T> C null L S 1287 1287 missense 0.999 probably damaging 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1173612779 6p21.2 6 38826171C> A null A D 1288 1288 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75954485 6p21.2 6 38826170G> T null A S 1288 1288 2.0E-4 missense 0.997 probably damaging 0.46 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75954485 6p21.2 6 38826170G> A null A T 1288 1288 2.0E-4 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773997433 6p21.2 6 38826181C> G null I M 1291 1291 missense 0.785 possibly damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761639011 6p21.2 6 38826182G> T null E * 1292 1292 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761639011 NCI-TCGA Cosmic [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22842228,cosmic_study:511 6p21.2 6 38826182G> A null E K 1292 1292 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767443140 6p21.2 6 38826189A> G null K R 1294 1294 missense 0.996 probably damaging 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1383050625 6p21.2 6 38826197A> C null K Q 1297 1297 missense 0.998 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1322641393 6p21.2 6 38826198A> G null K R 1297 1297 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs571467371 6p21.2 6 38826202G> A null M I 1298 1298 missense 0.041 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1368926257 6p21.2 6 38826200A> T null M L 1298 1298 missense 0.0 benign 0.73 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1312733857 6p21.2 6 38826207T> C null L P 1300 1300 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750370242 6p21.2 6 38826206C> G null L V 1300 1300 missense 0.325 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs760107925 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:376 6p21.2 6 38826212C> T null R * 1302 1302 missense 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs267601013 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38826213G> A null R Q 1302 1302 missense 0.996 probably damaging 0.5 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs754563016 6p21.2 6 38826221A> G null N D 1305 1305 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1350183725 6p21.2 6 38826228A> C null E A 1307 1307 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1391514914 6p21.2 6 38826234A> C null K T 1309 1309 missense 0.998 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs778666054 6p21.2 6 38826238G> T null K N 1310 1310 missense 0.998 probably damaging 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751967637 6p21.2 6 38826248T> C null Y H 1314 1314 missense 0.0 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1444886904 6p21.2 6 38826251A> G null M V 1315 1315 missense 0.959 probably damaging 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1180095292 6p21.2 6 38826256A> G null I M 1316 1316 missense 0.998 probably damaging 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs757754264 6p21.2 6 38826255T> C null I T 1316 1316 missense 0.995 probably damaging 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs552093031 6p21.2 6 38826257G> A null A T 1317 1317 2.0E-4 missense 0.001 benign 0.65 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs201847227 6p21.2 6 38826264T> C null I T 1319 1319 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1011282775 6p21.2 6 38826266A> G null N D 1320 1320 missense 0.068 benign 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1161715412 6p21.2 6 38826272T> C null Y H 1322 1322 missense 0.999 probably damaging 0.43 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs769880091 6p21.2 6 38826276T> G null L W 1323 1323 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780022086 6p21.2 6 38826291G> A null R K 1328 1328 missense 0.99 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs749436834 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38826292A> T null R S 1328 1328 missense 0.995 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629264 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1472059399 6p21.2 6 38826294C> T null P L 1329 1329 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1010473718 6p21.2 6 38826293C> T null P S 1329 1329 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768733052 6p21.2 6 38826297T> C null I T 1330 1330 missense 0.354 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1368144760 6p21.2 6 38826296A> G null I V 1330 1330 missense 0.071 benign 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200947240 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38826299C> T null R C 1331 1331 2.0E-4 missense 0.999 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs771853970 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver cosmic_study:322 6p21.2 6 38826300G> A null R H 1331 1331 missense 0.998 probably damaging 0.07 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200947240 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38826299C> A null R S 1331 1331 2.0E-4 missense 0.997 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773090243 6p21.2 6 38826312A> G null D G 1335 1335 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773090243 6p21.2 6 38826312A> T null D V 1335 1335 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1043869660 6p21.2 6 38826317A> G null R G 1337 1337 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs766385711 6p21.2 6 38826321T> G null F C 1338 1338 missense 0.999 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1332221677 6p21.2 6 38826320T> C null F L 1338 1338 missense 0.99 probably damaging 0.82 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759151664 6p21.2 6 38826326A> G null M V 1340 1340 missense 0.001 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs149583150 6p21.2 6 38826333C> G null A G 1342 1342 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs764782306 6p21.2 6 38826332G> A null A T 1342 1342 missense 0.998 probably damaging 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs889316802 6p21.2 6 38826342G> A null C Y 1345 1345 missense 0.043 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1184830557 6p21.2 6 38826344A> T null I L 1346 1346 missense 0.976 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1184830557 6p21.2 6 38826344A> G null I V 1346 1346 missense 0.976 probably damaging 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,gnomAD rs368700966 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38826347C> T null R C 1347 1347 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs780654058 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 38826348G> A null R H 1347 1347 missense 0.02 benign 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749327704 6p21.2 6 38826351A> G null D G 1348 1348 missense 0.383 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1351726990 6p21.2 6 38826350G> T null D Y 1348 1348 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1296329386 6p21.2 6 38826356G> A null E K 1350 1350 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1395717857 6p21.2 6 38826363A> G null Q R 1352 1352 missense 0.22 benign 0.7 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779036783 6p21.2 6 38826373G> C null M I 1355 1355 missense 0.014 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768842815 6p21.2 6 38826371A> C null M L 1355 1355 missense 0.01 benign 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs748397281 6p21.2 6 38826378T> C null L S 1357 1357 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771802642 6p21.2 6 38826384C> A null P Q 1359 1359 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs779527872 6p21.2 6 38826387T> C null I T 1360 1360 missense 0.329 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs201887726 6p21.2 6 38828187G> T null A S 1363 1363 missense 0.858 possibly damaging 0.9 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775119197 6p21.2 6 38828191A> G null Y C 1364 1364 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769381464 6p21.2 6 38828190T> A null Y N 1364 1364 missense 0.911 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775119197 6p21.2 6 38828191A> C null Y S 1364 1364 missense 0.933 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1428287075 6p21.2 6 38828202A> G null N D 1368 1368 missense 0.108 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1319300829 6p21.2 6 38828203A> G null N S 1368 1368 missense 0.009 benign 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs547539908 6p21.2 6 38828207A> T null R S 1369 1369 2.0E-4 missense 0.136 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760893606 6p21.2 6 38828208T> C null F L 1370 1370 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs567364354 6p21.2 6 38828210T> A null F L 1370 1370 2.0E-4 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs766775857 6p21.2 6 38828209T> C null F S 1370 1370 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149020489 6p21.2 6 38828211G> A null E K 1371 1371 5.99E-4 missense 0.816 possibly damaging 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs752766661 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38828229G> A null E K 1377 1377 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1156925265 6p21.2 6 38828230A> T null E V 1377 1377 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777914000 6p21.2 6 38828233A> T null E V 1378 1378 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs993128051 6p21.2 6 38828254T> C null L S 1385 1385 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs747269111 6p21.2 6 38828263C> T null S F 1388 1388 missense 0.918 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1313070138 6p21.2 6 38828269A> G null N S 1390 1390 missense 0.786 possibly damaging 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs756953921 6p21.2 6 38828273A> T null K N 1391 1391 missense 0.705 possibly damaging 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1191544240 6p21.2 6 38828276G> T null L F 1392 1392 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs745689828 6p21.2 6 38828277C> T null Q * 1393 1393 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1350554223 6p21.2 6 38828281G> A null S N 1394 1394 missense 0.563 possibly damaging 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs757468753 6p21.2 6 38832323T> A null V D 1397 1397 missense 0.533 possibly damaging 0.62 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1276355046 6p21.2 6 38832329T> C null V A 1399 1399 missense 0.005 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753062783 6p21.2 6 38832331C> T null Q * 1400 1400 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1232601630 6p21.2 6 38832332A> G null Q R 1400 1400 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756036998 6p21.2 6 38832337G> A null D N 1402 1402 missense 0.012 benign 0.41 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1411657657 6p21.2 6 38832346C> T null Q * 1405 1405 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1372450923 6p21.2 6 38832350T> C null V A 1406 1406 missense 0.133 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs543832354 6p21.2 6 38832349G> C null V L 1406 1406 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768227470 6p21.2 6 38832353A> T null Q L 1407 1407 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562937280 6p21.2 6 38832358A> G null K E 1409 1409 missense 0.017 benign 0.74 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747664075 6p21.2 6 38832359A> G null K R 1409 1409 missense 0.029 benign 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs140704775 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38832364A> G null K E 1411 1411 missense 0.996 probably damaging 0.07 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000803083 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1204156273 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38832368G> A null S N 1412 1412 missense 0.007 benign 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1252348914 6p21.2 6 38832370A> C null N H 1413 1413 missense 0.506 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1185409506 6p21.2 6 38832372T> A null N K 1413 1413 missense 0.068 benign 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772809690 6p21.2 6 38832371A> G null N S 1413 1413 missense 0.0 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1367556893 6p21.2 6 38832377T> C null L P 1415 1415 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759830380 6p21.2 6 38832380A> G null E G 1416 1416 missense 0.997 probably damaging 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759830380 6p21.2 6 38832380A> T null E V 1416 1416 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs9357283 pubmed:12297094 6p21.2 6 38832388G> A null E K 1419 1419 0.1823 missense 0.005 benign 0.67 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1417925648 6p21.2 6 38832392T> G null V G 1420 1420 missense 0.1 benign 0.3 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562937571 6p21.2 6 38832395T> G null F C 1421 1421 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs532828311 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38832397C> T null R C 1422 1422 3.99E-4 missense 0.003 benign 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145309531 cosmic curated [Cosmic]: urinary_tract, [ClinVar]: Primary ciliary dyskinesia pubmed:24121792,cosmic_study:557,cosmic_study:581 6p21.2 6 38832398G> A null R H 1422 1422 0.008387 missense 0.441 benign 0.63 tolerated 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000231333 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145309531 6p21.2 6 38832398G> C null R P 1422 1422 0.008387 missense 0.559 possibly damaging 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs889137358 6p21.2 6 38832406G> A null V M 1425 1425 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1209569915 6p21.2 6 38832418G> A null A T 1429 1429 missense 0.005 benign 0.48 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1450229062 6p21.2 6 38832424G> T null A S 1431 1431 missense 0.005 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1442572420 6p21.2 6 38832427T> C null Y H 1432 1432 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,gnomAD rs553696622 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38834579G> A null E K 1435 1435 2.0E-4 missense 0.996 probably damaging 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs767504389 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38834583G> A null G E 1436 1436 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767504389 6p21.2 6 38834583G> T null G V 1436 1436 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs372418892 6p21.2 6 38834586C> T null P L 1437 1437 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs772321189 6p21.2 6 38834588A> G null M V 1438 1438 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1199675909 6p21.2 6 38834592T> G null V G 1439 1439 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs567162400 6p21.2 6 38834598A> G null N S 1441 1441 2.0E-4 missense 0.332 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1002218956 6p21.2 6 38834601T> C null I T 1442 1442 missense 0.005 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes rs536307444 6p21.2 6 38834603C> A null P T 1443 1443 2.0E-4 missense 0.22 benign 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1467750887 6p21.2 6 38834615G> A null A T 1447 1447 missense 0.423 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753676877 6p21.2 6 38834619G> T null S I 1448 1448 missense 0.188 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs145520125 6p21.2 6 38834625G> A null R K 1450 1450 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765157183 6p21.2 6 38834635A> G null I M 1453 1453 missense 0.576 possibly damaging 0.48 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs151175737 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38837951G> A null D N 1459 1459 missense 0.998 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000456181 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1255966069 6p21.2 6 38837962G> A null W * 1462 1462 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1255966069 6p21.2 6 38837962G> T null W C 1462 1462 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs772146998 cosmic curated [Cosmic]: skin pubmed:22197931,cosmic_study:389 6p21.2 6 38837976C> T null T M 1467 1467 missense 0.999 probably damaging 0.14 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs766707073 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38837979A> G null Y C 1468 1468 missense 0.999 probably damaging 0.05 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000525394 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs776999715 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38837982C> T null S L 1469 1469 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764965916 6p21.2 6 38838003G> T null G V 1476 1476 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1266478832 6p21.2 6 38838009C> A null P H 1478 1478 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61757623 6p21.2 6 38838025G> C null E D 1483 1483 0.007388 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764067274 6p21.2 6 38838033A> G null H R 1486 1486 missense 0.995 probably damaging 0.28 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751054755 6p21.2 6 38838035A> G null K E 1487 1487 missense 0.204 benign 0.68 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs370607993 6p21.2 6 38838039C> T null T I 1488 1488 missense 0.003 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1232943310 6p21.2 6 38842374A> C null E D 1491 1491 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1432294775 6p21.2 6 38842379A> T null N I 1493 1493 missense 0.452 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs946839192 6p21.2 6 38842380C> G null N K 1493 1493 missense 0.108 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs376977881 6p21.2 6 38842383G> C null L F 1494 1494 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs755481327 6p21.2 6 38842387C> T null Q * 1496 1496 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779352392 6p21.2 6 38842388A> C null Q P 1496 1496 missense 0.264 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779352392 6p21.2 6 38842388A> G null Q R 1496 1496 missense 0.147 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1411168388 6p21.2 6 38842397A> G null Y C 1499 1499 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1431118220 6p21.2 6 38842415T> A null V E 1505 1505 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs200202666 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38842414G> A null V I 1505 1505 missense 0.994 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000816942 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs756704449 6p21.2 6 38842419G> A null M I 1506 1506 missense 0.974 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs146743978 6p21.2 6 38842418T> A null M K 1506 1506 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs146743978 6p21.2 6 38842418T> C null M T 1506 1506 missense 0.974 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1276990829 6p21.2 6 38842421G> A null S N 1507 1507 missense 0.003 benign 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761252547 6p21.2 6 38842426A> G null I V 1509 1509 missense 0.976 probably damaging 0.82 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368354332 6p21.2 6 38842430G> A null S N 1510 1510 missense 0.226 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1036924909 6p21.2 6 38842438T> C null Y H 1513 1513 missense 0.999 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs1407889028 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38842441G> C null E Q 1514 1514 missense 0.997 probably damaging 0.05 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000685840 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1554226304 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38842444A> G null I V 1515 1515 missense 0.0 benign 0.06 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629499 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750048354 6p21.2 6 38842452G> C null W C 1517 1517 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1455127575 6p21.2 6 38842450T> C null W R 1517 1517 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1013901694 6p21.2 6 38842458T> G null D E 1519 1519 missense 0.995 probably damaging 0.96 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1200066011 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 6p21.2 6 38842456G> C null D H 1519 1519 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1200066011 6p21.2 6 38842456G> A null D N 1519 1519 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs267601014 6p21.2 6 38842468G> T null E * 1523 1523 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs267601014 6p21.2 6 38842468G> A null E K 1523 1523 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1227000333 6p21.2 6 38842476T> G null I M 1525 1525 missense 0.998 probably damaging 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554226309 6p21.2 6 38842481C> T null A V 1527 1527 missense 0.068 benign 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779817409 6p21.2 6 38842486C> G null L V 1529 1529 missense 0.995 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1280652454 6p21.2 6 38842500A> C null Q H 1533 1533 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed rs753004347 6p21.2 6 38842505G> A null R K 1535 1535 missense 0.99 probably damaging 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs78877915 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia cosmic_study:376 6p21.2 6 38842667C> T null R C 1537 1537 5.99E-4 missense 0.821 possibly damaging 0.01 deleterious 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000550296 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs375507271 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia cosmic_study:376 6p21.2 6 38842668G> A null R H 1537 1537 missense 0.012 benign 0.02 deleterious 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000468987 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs375507271 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38842668G> T null R L 1537 1537 missense 0.462 possibly damaging 0.02 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629265 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1450331503 6p21.2 6 38842673C> A null L I 1539 1539 missense 0.056 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368084160 6p21.2 6 38842679A> G null K E 1541 1541 missense 0.304 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs745505994 6p21.2 6 38842683G> A null G E 1542 1542 missense 0.697 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562964634 6p21.2 6 38842682G> C null G R 1542 1542 missense 0.826 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs745505994 6p21.2 6 38842683G> T null G V 1542 1542 missense 0.619 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1361007565 6p21.2 6 38842688A> C null K Q 1544 1544 missense 0.998 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs745931225 6p21.2 6 38842696G> A null W * 1546 1546 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs769685364 6p21.2 6 38842695G> A null W * 1546 1546 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1294833717 6p21.2 6 38842699A> C null Q H 1547 1547 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756220469 6p21.2 6 38842703T> C null F L 1549 1549 missense 0.1 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756220469 6p21.2 6 38842703T> G null F V 1549 1549 missense 0.1 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780080304 6p21.2 6 38842711T> A null D E 1551 1551 missense 0.995 probably damaging 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs749532085 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38842716A> G null K R 1553 1553 missense 0.996 probably damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed,gnomAD rs371941719 6p21.2 6 38842723A> T null R S 1555 1555 missense 0.995 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768398278 6p21.2 6 38842732T> A null D E 1558 1558 missense 0.995 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562964838 6p21.2 6 38842737G> A null S N 1560 1560 missense 0.993 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1369149946 6p21.2 6 38842741G> C null E D 1561 1561 missense 0.994 probably damaging 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs369462893 6p21.2 6 38842739G> A null E K 1561 1561 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1409625697 6p21.2 6 38842743C> G null S * 1562 1562 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1308823993 6p21.2 6 38842745T> C null C R 1563 1563 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs747982513 6p21.2 6 38842748C> T null P S 1564 1564 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1283735349 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38842752T> C null L P 1565 1565 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1246682998 6p21.2 6 38842769A> G null N D 1571 1571 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1293883888 6p21.2 6 38842771T> G null N K 1571 1571 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1436947070 6p21.2 6 38842770A> G null N S 1571 1571 missense 0.994 probably damaging 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375089340 6p21.2 6 38842775G> A null A T 1573 1573 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765939144 6p21.2 6 38842778A> C null M L 1574 1574 missense 0.902 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs775436333 6p21.2 6 38842779T> C null M T 1574 1574 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765939144 6p21.2 6 38842778A> G null M V 1574 1574 missense 0.959 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1439251275 6p21.2 6 38842791A> C null H P 1578 1578 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1298081554 6p21.2 6 38842794G> A null W * 1579 1579 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1188585396 6p21.2 6 38842797A> G null D G 1580 1580 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759235578 6p21.2 6 38842805T> G null S A 1583 1583 missense 0.001 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs912357949 6p21.2 6 38842810G> C null E D 1584 1584 missense 0.011 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs201823651 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38842808G> A null E K 1584 1584 missense 0.215 benign 0.23 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000472051 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs939877826 6p21.2 6 38842817G> A null G R 1587 1587 missense 0.285 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs148030324 6p21.2 6 38842821C> T null T I 1588 1588 missense 0.998 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs148030324 6p21.2 6 38842821C> A null T N 1588 1588 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs186408574 6p21.2 6 38842824C> G null P R 1589 1589 2.0E-4 missense 0.134 benign 0.49 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1271858384 6p21.2 6 38842830A> T null D V 1591 1591 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780210807 6p21.2 6 38842845C> G null S C 1596 1596 missense 0.745 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1366120302 6p21.2 6 38842848T> A null F Y 1597 1597 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1233843857 6p21.2 6 38842851G> T null C F 1598 1598 missense 0.998 probably damaging 0.7 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1297277904 6p21.2 6 38842856A> G null R G 1600 1600 missense 0.281 benign 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141012833 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38842858A> T null R S 1600 1600 5.99E-4 missense 0.281 benign 0.04 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000703159 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs896884432 6p21.2 6 38842860A> G null N S 1601 1601 missense 0.994 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755166575 6p21.2 6 38842863T> C null I T 1602 1602 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779160284 6p21.2 6 38842865A> G null M V 1603 1603 missense 0.959 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1406662777 6p21.2 6 38842872C> T null A V 1605 1605 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs898424315 6p21.2 6 38842874C> G null P A 1606 1606 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1554226482 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38842877C> T null L F 1607 1607 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629471 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1210967529 6p21.2 6 38842878T> C null L P 1607 1607 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372329730 6p21.2 6 38842881T> G null L R 1608 1608 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375356688 6p21.2 6 38842893A> G null D G 1612 1612 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375356688 6p21.2 6 38842893A> T null D V 1612 1612 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs866233929 6p21.2 6 38842895G> A null D N 1613 1613 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1172838594 6p21.2 6 38842896A> T null D V 1613 1613 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747001373 6p21.2 6 38842899T> C null I T 1614 1614 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1431714583 6p21.2 6 38842898A> G null I V 1614 1614 missense 0.976 probably damaging 0.27 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1562965775 6p21.2 6 38842902A> G null E G 1615 1615 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs943252271 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38845575A> G null D G 1616 1616 missense 0.487 possibly damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000467429 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs943252271 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38845575A> T null D V 1616 1616 missense 0.53 possibly damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629277 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs528250155 6p21.2 6 38845574G> T null D Y 1616 1616 missense 0.629 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1411389193 6p21.2 6 38845580T> C null C R 1618 1618 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1171266562 6p21.2 6 38845581G> A null C Y 1618 1618 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed,gnomAD rs370335048 6p21.2 6 38845583A> G null I V 1619 1619 missense 0.014 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs769442737 6p21.2 6 38845589G> T null A S 1621 1621 missense 0.663 possibly damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs769442737 6p21.2 6 38845589G> A null A T 1621 1621 missense 0.665 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1211956186 6p21.2 6 38845612A> C null E D 1628 1628 missense 0.563 possibly damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1345752116 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS pubmed:22622578,cosmic_study:388 6p21.2 6 38845610G> A null E K 1628 1628 missense 0.602 possibly damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1026014401 6p21.2 6 38845617A> G null K R 1630 1630 missense 0.005 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1327818594 6p21.2 6 38845619C> G null L V 1631 1631 missense 0.157 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1456702985 6p21.2 6 38845625C> G null Q E 1633 1633 missense 0.114 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs887565130 6p21.2 6 38845628G> A null V M 1634 1634 missense 0.783 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1239141018 6p21.2 6 38845632T> A null I N 1635 1635 missense 0.203 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61757219 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38845636G> T null E D 1636 1636 0.00639 missense 0.003 benign 0.44 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000230636 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1354929477 6p21.2 6 38845643A> G null T A 1639 1639 missense 0.001 benign 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP,gnomAD rs1209612162 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38845644C> T null T I 1639 1639 missense 0.206 benign 0.02 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000690227 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1270100288 6p21.2 6 38845646A> G null N D 1640 1640 missense 0.093 benign 0.64 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1490895252 6p21.2 6 38845648C> A null N K 1640 1640 missense 0.1 benign 0.81 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773601504 6p21.2 6 38845649C> A null Q K 1641 1641 missense 0.157 benign 0.7 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760999926 6p21.2 6 38845655C> A null L M 1643 1643 missense 0.91 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs969595384 6p21.2 6 38845656T> C null L P 1643 1643 missense 0.872 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs969595384 6p21.2 6 38845656T> A null L Q 1643 1643 missense 0.718 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375665568 6p21.2 6 38845664G> T null A S 1646 1646 missense 0.005 benign 0.67 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs754359838 6p21.2 6 38845667G> A null A T 1647 1647 missense 0.003 benign 0.78 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1331272048 6p21.2 6 38845673A> G null K E 1649 1649 missense 0.51 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs139039516 6p21.2 6 38845677G> A null G E 1650 1650 missense 0.107 benign 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs148642821 6p21.2 6 38845683G> A null G E 1652 1652 missense 0.377 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs765334148 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38845685G> A null E K 1653 1653 missense 0.996 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000234559 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed,gnomAD rs368451192 6p21.2 6 38845688C> T null L F 1654 1654 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1391447346 6p21.2 6 38845701G> T null G V 1658 1658 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751367633 6p21.2 6 38845704C> T null T I 1659 1659 missense 0.51 possibly damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs142959082 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6p21.2 6 38845706G> A null E K 1660 1660 missense 0.996 probably damaging 0.11 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1293165543 6p21.2 6 38845710C> T null S L 1661 1661 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1293165543 6p21.2 6 38845710C> G null S W 1661 1661 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1477753320 6p21.2 6 38845712G> A null G R 1662 1662 missense 0.746 possibly damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1203462930 6p21.2 6 38845715G> A null E K 1663 1663 missense 0.423 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,dbSNP,gnomAD rs769387808 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38845724A> G null T A 1666 1666 missense 0.0 benign 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000538745 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769387808 6p21.2 6 38845724A> T null T S 1666 1666 missense 0.006 benign 0.78 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1378332390 6p21.2 6 38845728T> G null L W 1667 1667 missense 0.757 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1201242416 6p21.2 6 38845731T> A null M K 1668 1668 missense 0.156 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1438128043 6p21.2 6 38845733G> T null E * 1669 1669 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773938402 cosmic curated [Cosmic]: large_intestine pubmed:23856246,cosmic_study:504 6p21.2 6 38845740G> A null S N 1671 1671 missense 0.009 benign 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1237891920 6p21.2 6 38845741T> A null S R 1671 1671 missense 0.402 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1182863604 6p21.2 6 38845743T> C null L S 1672 1672 missense 0.506 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed rs761046432 6p21.2 6 38845748G> A null V I 1674 1674 missense 0.005 benign 0.87 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1385788425 6p21.2 6 38845754G> A null G R 1676 1676 missense 0.776 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs771310097 6p21.2 6 38845764T> C null L P 1679 1679 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs541531465 6p21.2 6 38845766A> G null S G 1680 1680 2.0E-4 missense 0.068 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1257318232 6p21.2 6 38845768C> A null S R 1680 1680 missense 0.1 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1345068227 6p21.2 6 38845767G> C null S T 1680 1680 missense 0.003 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1353552757 6p21.2 6 38845771C> G null N K 1681 1681 missense 0.423 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1353552757 6p21.2 6 38845771C> A null N K 1681 1681 missense 0.423 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1336886097 6p21.2 6 38848650A> G null Y C 1683 1683 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs748824075 6p21.2 6 38848649T> C null Y H 1683 1683 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs751383763 6p21.2 6 38848653A> T null N I 1684 1684 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1433581910 6p21.2 6 38848658C> G null P A 1686 1686 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs754448491 6p21.2 6 38848663T> A null F L 1687 1687 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778582165 6p21.2 6 38848664A> T null K * 1688 1688 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747790182 6p21.2 6 38848667A> G null K E 1689 1689 missense 0.996 probably damaging 0.3 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1275583554 6p21.2 6 38848669A> T null K N 1689 1689 missense 0.998 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1224195716 6p21.2 6 38848672T> A null N K 1690 1690 missense 0.003 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs374665832 6p21.2 6 38848670A> T null N Y 1690 1690 missense 0.405 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs776961753 6p21.2 6 38848684G> A null W * 1694 1694 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs776961753 6p21.2 6 38848684G> T null W C 1694 1694 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1241477518 6p21.2 6 38848696G> T null L F 1698 1698 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746290110 6p21.2 6 38848695T> C null L S 1698 1698 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1188062472 6p21.2 6 38848700A> G null T A 1700 1700 missense 0.085 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1354674639 6p21.2 6 38848701C> T null T I 1700 1700 missense 0.636 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1354674639 6p21.2 6 38848701C> G null T S 1700 1700 missense 0.02 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1309454133 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38848704C> T null S F 1701 1701 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1422607624 6p21.2 6 38848710A> G null D G 1703 1703 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1432490548 6p21.2 6 38848709G> T null D Y 1703 1703 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1176486677 6p21.2 6 38848712A> G null I V 1704 1704 missense 0.166 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763031130 6p21.2 6 38848716T> A null I N 1705 1705 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763031130 6p21.2 6 38848716T> C null I T 1705 1705 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs753938162 6p21.2 6 38848721G> T null E * 1707 1707 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774592715 6p21.2 6 38848723G> C null E D 1707 1707 missense 0.994 probably damaging 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs192383980 6p21.2 6 38848724T> A null W R 1708 1708 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767897929 6p21.2 6 38848727C> T null L F 1709 1709 missense 0.628 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753745756 6p21.2 6 38848731T> C null V A 1710 1710 missense 0.133 benign 0.51 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753745756 6p21.2 6 38848731T> A null V E 1710 1710 missense 0.59 possibly damaging 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs756038605 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38848730G> A null V I 1710 1710 missense 0.003 benign 0.51 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000816855 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs756038605 6p21.2 6 38848730G> C null V L 1710 1710 missense 0.053 benign 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs778260503 6p21.2 6 38848733G> A null V I 1711 1711 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747709832 6p21.2 6 38848737A> G null Q R 1712 1712 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs758033766 6p21.2 6 38848740A> G null N S 1713 1713 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1060501470 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38848742C> G null L V 1714 1714 missense 0.995 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000475082 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138523753 6p21.2 6 38848748G> A null V I 1716 1716 2.0E-4 missense 0.013 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770159111 6p21.2 6 38848764T> C null V A 1721 1721 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746165563 6p21.2 6 38848763G> A null V I 1721 1721 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs776015759 6p21.2 6 38848769G> C null V L 1723 1723 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs45461493 6p21.2 6 38848773G> C null G A 1724 1724 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs45461493 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38848773G> A null G D 1724 1724 missense 1.0 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000554643 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148767488 6p21.2 6 38848787A> G null K E 1729 1729 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148767488 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38848787A> C null K Q 1729 1729 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000467222 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs371388180 6p21.2 6 38848801G> C null Q H 1733 1733 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1354449683 6p21.2 6 38848800A> G null Q R 1733 1733 missense 0.798 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1445955703 6p21.2 6 38850255C> A null A E 1735 1735 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760951077 6p21.2 6 38850254G> A null A T 1735 1735 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771237620 6p21.2 6 38850257A> G null K E 1736 1736 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs146241522 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38850260C> T null R C 1737 1737 0.001597 missense 0.999 probably damaging 0.02 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000528390 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs568480936 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38850261G> A null R H 1737 1737 3.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000538535 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs761361186 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38850273T> C null I T 1741 1741 missense 0.995 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000814339 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs199737918 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38850275G> A null D N 1742 1742 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000803291 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1023281989 6p21.2 6 38850282C> T null S F 1744 1744 missense 0.731 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762401941 6p21.2 6 38850288T> A null I K 1746 1746 missense 0.179 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1273599948 6p21.2 6 38850290A> C null K Q 1747 1747 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs547165959 6p21.2 6 38850293A> G null I V 1748 1748 missense 0.976 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1273309145 6p21.2 6 38850297T> G null M R 1749 1749 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs200056261 6p21.2 6 38850300A> T null Q L 1750 1750 missense 0.99 probably damaging 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs201568629 6p21.2 6 38850302C> T null R * 1751 1751 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs756837520 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38850303G> A null R Q 1751 1751 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780954806 6p21.2 6 38850306C> G null A G 1752 1752 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs981849626 6p21.2 6 38850309A> C null H P 1753 1753 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754145859 6p21.2 6 38850321A> C null N T 1757 1757 missense 0.423 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755370528 6p21.2 6 38850329A> C null N H 1760 1760 missense 0.296 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772749119 6p21.2 6 38850339T> G null V G 1763 1763 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777980655 6p21.2 6 38850342G> C null G A 1764 1764 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747175047 6p21.2 6 38850346T> G null D E 1765 1765 missense 0.995 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs771057399 6p21.2 6 38850353A> C null M L 1768 1768 missense 0.902 possibly damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs771057399 6p21.2 6 38850353A> G null M V 1768 1768 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1001357787 6p21.2 6 38850363T> A null L H 1771 1771 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1348826703 6p21.2 6 38850362C> G null L V 1771 1771 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1453344513 6p21.2 6 38850372A> C null H P 1774 1774 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1453344513 6p21.2 6 38850372A> G null H R 1774 1774 missense 0.995 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1338644482 6p21.2 6 38850378A> G null H R 1776 1776 missense 0.995 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1410811556 6p21.2 6 38850398C> G null Q E 1783 1783 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1324427708 6p21.2 6 38850401A> G null K E 1784 1784 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746995476 6p21.2 6 38851581G> C null E D 1791 1791 missense 0.994 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs371592236 6p21.2 6 38851584G> C null K N 1792 1792 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs781224411 6p21.2 6 38851588C> T null R * 1794 1794 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746134358 6p21.2 6 38851589G> C null R P 1794 1794 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746134358 6p21.2 6 38851589G> A null R Q 1794 1794 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775242224 6p21.2 6 38851595T> G null L R 1796 1796 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1043402714 6p21.2 6 38851600C> G null P A 1798 1798 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs888795938 6p21.2 6 38851606T> C null F L 1800 1800 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs534783808 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38851616T> C null V A 1803 1803 5.99E-4 missense 0.994 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000553318 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1198917764 6p21.2 6 38851615G> T null V L 1803 1803 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1205173677 6p21.2 6 38851622A> G null D G 1805 1805 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1481425159 6p21.2 6 38851621G> T null D Y 1805 1805 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1040131436 6p21.2 6 38851624C> T null P S 1806 1806 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1180178086 6p21.2 6 38851627G> T null V F 1807 1807 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1361990554 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6p21.2 6 38851628T> G null V G 1807 1807 missense 0.998 probably damaging 0.05 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768576577 6p21.2 6 38851639A> G null I V 1811 1811 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774345905 6p21.2 6 38851648C> A null Q K 1814 1814 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761167536 6p21.2 6 38851657G> A null D N 1817 1817 missense 0.998 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767074174 6p21.2 6 38851660T> A null S T 1818 1818 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1468825447 6p21.2 6 38851663C> T null H Y 1819 1819 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs113364667 6p21.2 6 38851666A> G null T A 1820 1820 missense 0.994 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772697458 6p21.2 6 38851669A> G null I V 1821 1821 missense 0.976 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1263045958 6p21.2 6 38851673A> T null Q L 1822 1822 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs201197291 6p21.2 6 38852695C> T null P L 1823 1823 missense 1.0 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs966655366 6p21.2 6 38852706G> A null A T 1827 1827 missense 0.414 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45519938 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38852717C> A null D E 1830 1830 0.003994 missense 0.995 probably damaging 0.05 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000230523 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs999815371 6p21.2 6 38852715G> C null D H 1830 1830 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1425362503 6p21.2 6 38852718A> G null N D 1831 1831 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs908949662 6p21.2 6 38852720C> G null N K 1831 1831 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1167794042 6p21.2 6 38852721A> G null I V 1832 1832 missense 0.095 benign 0.76 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143128496 6p21.2 6 38852725A> G null N S 1833 1833 2.0E-4 missense 0.021 benign 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1404499776 6p21.2 6 38852728A> T null E V 1834 1834 missense 0.286 benign 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs750511268 6p21.2 6 38852737T> C null F S 1837 1837 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1378418651 6p21.2 6 38852740A> G null H R 1838 1838 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,dbSNP,gnomAD rs756190655 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38852742G> A null A T 1839 1839 missense 0.003 benign 0.03 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000531548 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs780187879 6p21.2 6 38852745A> G null K E 1840 1840 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs963095538 6p21.2 6 38852748G> C null D H 1841 1841 missense 0.994 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs566394706 6p21.2 6 38852752A> G null Y C 1842 1842 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140442435 6p21.2 6 38852755A> G null D G 1843 1843 2.0E-4 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61758415 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38852754G> C null D H 1843 1843 0.003195 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000546443 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs747954312 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38852757C> T null R C 1844 1844 missense 0.847 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772045082 6p21.2 6 38852758G> T null R L 1844 1844 missense 0.427 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1182388549 6p21.2 6 38852763A> G null M V 1846 1846 missense 0.019 benign 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs149016705 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38852769G> A null V I 1848 1848 3.99E-4 missense 0.023 benign 0.99 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000820418 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145036630 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38852772A> T null I L 1849 1849 2.0E-4 missense 0.026 benign 0.63 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000468080 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1428818059 6p21.2 6 38852773T> C null I T 1849 1849 missense 0.144 benign 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1468837648 6p21.2 6 38852776C> T null S L 1850 1850 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1426518067 6p21.2 6 38852775T> A null S T 1850 1850 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759233853 6p21.2 6 38852781G> A null E K 1852 1852 missense 0.221 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1042338640 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38852784G> A null G R 1853 1853 missense 0.768 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1361427472 6p21.2 6 38852792A> T null K N 1855 1855 missense 0.144 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs903879426 6p21.2 6 38852797T> C null V A 1857 1857 missense 0.012 benign 0.56 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769383206 6p21.2 6 38852796G> A null V I 1857 1857 missense 0.0 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775009997 6p21.2 6 38853194T> G null N K 1860 1860 missense 0.029 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1335204247 6p21.2 6 38853199T> C null V A 1862 1862 missense 0.1 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748486865 6p21.2 6 38853198G> T null V F 1862 1862 missense 0.191 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748486865 6p21.2 6 38853198G> A null V I 1862 1862 missense 0.005 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1177100063 6p21.2 6 38853203G> C null M I 1863 1863 missense 0.068 benign 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773665435 6p21.2 6 38853205C> G null A G 1864 1864 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs761136243 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38853213C> T null P S 1867 1867 missense 0.506 possibly damaging 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs201264105 6p21.2 6 38853217T> G null V G 1868 1868 missense 0.819 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs936707560 6p21.2 6 38853216G> A null V M 1868 1868 missense 0.718 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1365186126 6p21.2 6 38853221G> T null E D 1869 1869 missense 0.482 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759541064 6p21.2 6 38853232T> C null L P 1873 1873 missense 0.762 possibly damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1352768772 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38853234G> T null D Y 1874 1874 missense 0.89 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765442782 6p21.2 6 38853237T> G null L V 1875 1875 missense 0.317 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1297488496 6p21.2 6 38853249C> T null Q * 1879 1879 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1312732408 6p21.2 6 38853253T> C null M T 1880 1880 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1242008174 6p21.2 6 38853252A> G null M V 1880 1880 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1427725698 6p21.2 6 38853258T> A null S T 1882 1882 missense 0.958 probably damaging 0.43 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1157302965 6p21.2 6 38853268A> G null N S 1885 1885 missense 0.208 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751452482 6p21.2 6 38853276A> G null R G 1888 1888 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757249489 6p21.2 6 38853277G> T null R I 1888 1888 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1291624685 6p21.2 6 38853276_38853277insATT A null R N 1888 1888 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs781342164 6p21.2 6 38853280C> G null S C 1889 1889 missense 0.698 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs781342164 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38853280C> T null S F 1889 1889 missense 0.632 possibly damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000530342 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs375461103 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia pubmed:22895193,cosmic_study:419,cosmic_study:452 6p21.2 6 38853282G> A null A T 1890 1890 missense 0.557 possibly damaging 0.01 deleterious 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000696088 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1266888689 6p21.2 6 38853285T> G null F V 1891 1891 missense 0.068 benign 0.48 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773542471 6p21.2 6 38853289A> G null Y C 1892 1892 missense 0.9 possibly damaging 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1165179325 6p21.2 6 38853300G> A null D N 1896 1896 missense 0.87 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1313687368 6p21.2 6 38853301A> T null D V 1896 1896 missense 0.506 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1417663356 6p21.2 6 38853306G> A null G R 1898 1898 missense 0.853 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1004766907 6p21.2 6 38853309T> G null F V 1899 1899 missense 0.993 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1005995782 6p21.2 6 38853313A> T null Q L 1900 1900 missense 0.0 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs111580219 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38853315C> T null L F 1901 1901 0.007788 missense 0.91 probably damaging 0.17 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000470221 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777137437 6p21.2 6 38853319T> C null L S 1902 1902 missense 0.766 possibly damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759612322 6p21.2 6 38853321C> G null P A 1903 1903 missense 0.003 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775682802 6p21.2 6 38853332C> A null S R 1906 1906 missense 0.0 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763067053 6p21.2 6 38853334A> G null H R 1907 1907 missense 0.188 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1213475149 6p21.2 6 38853340C> T null P L 1909 1909 missense 0.628 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1319405667 6p21.2 6 38853345C> T null Q * 1911 1911 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746333530 6p21.2 6 38857519T> A null V D 1912 1912 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs770385236 6p21.2 6 38857521G> A null G R 1913 1913 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1467448925 6p21.2 6 38857524C> T null L F 1914 1914 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1202538198 6p21.2 6 38857525T> G null L R 1914 1914 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs895136259 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 6p21.2 6 38857531G> A null G E 1916 1916 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1282665414 6p21.2 6 38857548A> G null T A 1922 1922 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs994955767 6p21.2 6 38857552A> T null H L 1923 1923 missense 0.353 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2061907 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38857553C> A null H Q 1923 1923 0.4842 missense 0.503 possibly damaging 0.02 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000546074 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal NCI-TCGA,TOPMed rs267601015 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 38857554G> A null D N 1924 1924 missense 0.998 probably damaging 0.01 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1479487059 6p21.2 6 38857560G> C null E Q 1926 1926 missense 0.997 probably damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774724676 6p21.2 6 38857563G> T null E * 1927 1927 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767447851 6p21.2 6 38857572C> T null R C 1930 1930 missense 0.398 benign 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs758923038 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia pubmed:22810696,cosmic_study:376 6p21.2 6 38857573G> A null R H 1930 1930 missense 0.0 benign 0.24 tolerated 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000821058 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs758923038 6p21.2 6 38857573G> T null R L 1930 1930 missense 0.033 benign 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1399926202 6p21.2 6 38857576A> G null N S 1931 1931 missense 0.011 benign 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753223026 6p21.2 6 38857586T> A null D E 1934 1934 missense 0.034 benign 0.99 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753223026 6p21.2 6 38857586T> G null D E 1934 1934 missense 0.034 benign 0.99 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs766395761 6p21.2 6 38857584G> C null D H 1934 1934 missense 0.937 probably damaging 0.53 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs769537891 6p21.2 6 38857600T> C null M T 1939 1939 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs556109331 6p21.2 6 38857612A> T null N I 1943 1943 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs556109331 6p21.2 6 38857612A> G null N S 1943 1943 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs758090935 6p21.2 6 38857617A> G null K E 1945 1945 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs549839617 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38857618A> C null K T 1945 1945 missense 0.998 probably damaging 0.07 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629448 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs998506045 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6p21.2 6 38857621T> G null F C 1946 1946 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs746305586 6p21.2 6 38857620T> G null F V 1946 1946 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780613252 6p21.2 6 38857627A> C null D A 1948 1948 missense 0.999 probably damaging 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780613252 6p21.2 6 38857627A> G null D G 1948 1948 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs182835785 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38857629A> G null I V 1949 1949 2.0E-4 missense 0.071 benign 0.15 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000696316 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs762805894 6p21.2 6 38857633T> C null L P 1950 1950 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs774977614 6p21.2 6 38857632C> G null L V 1950 1950 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1489751499 6p21.2 6 38857651A> G null Q R 1956 1956 missense 0.99 probably damaging 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1231733057 6p21.2 6 38857653A> G null T A 1957 1957 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs150691309 6p21.2 6 38857656A> G null T A 1958 1958 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs774671297 6p21.2 6 38857664T> G null D E 1960 1960 missense 0.995 probably damaging 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762096087 6p21.2 6 38857666T> G null L R 1961 1961 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1159069850 6p21.2 6 38857679T> A null D E 1965 1965 missense 0.005 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1469417136 6p21.2 6 38857677G> A null D N 1965 1965 missense 0.144 benign 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,TOPMed rs202187941 6p21.2 6 38857680A> T null R * 1966 1966 2.0E-4 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,TOPMed rs202187941 6p21.2 6 38857680A> G null R G 1966 1966 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1381773632 6p21.2 6 38857683G> A null V M 1967 1967 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs915013682 6p21.2 6 38857694G> T null E D 1970 1970 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138892245 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia cosmic_study:419 6p21.2 6 38857692G> A null E K 1970 1970 missense 0.996 probably damaging 0.0 deleterious 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000560886 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1563013990 6p21.2 6 38857695A> G null T A 1971 1971 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs569848417 6p21.2 6 38857696C> T null T I 1971 1971 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1287696542 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38857705C> T null T I 1974 1974 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs766171890 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue cosmic_study:377 6p21.2 6 38857711A> C null H P 1976 1976 missense 0.998 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs766171890 6p21.2 6 38857711A> G null H R 1976 1976 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759008197 6p21.2 6 38857713G> A null V M 1977 1977 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs752257572 6p21.2 6 38857723G> A null R K 1980 1980 missense 0.99 probably damaging 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs758036056 6p21.2 6 38857727T> G null D E 1981 1981 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs763867026 6p21.2 6 38857729T> C null I T 1982 1982 missense 0.995 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs369198801 6p21.2 6 38857735A> G null D G 1984 1984 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780373668 6p21.2 6 38857737G> C null D H 1985 1985 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs749841276 6p21.2 6 38857742G> T null L F 1986 1986 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1490241215 6p21.2 6 38860467A> G null H R 1990 1990 missense 0.995 probably damaging 0.52 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs758528601 6p21.2 6 38860469A> G null I V 1991 1991 missense 0.009 benign 0.38 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs747224041 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38860476C> T null S L 1993 1993 missense 0.995 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000706205 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771108275 6p21.2 6 38860479C> G null P R 1994 1994 missense 0.081 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1465720055 6p21.2 6 38860478C> T null P S 1994 1994 missense 0.018 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs776401497 6p21.2 6 38860481A> G null T A 1995 1995 missense 0.994 probably damaging 0.27 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1469585806 6p21.2 6 38860484G> A null D N 1996 1996 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554231355 6p21.2 6 38860488T> C null F S 1997 1997 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs961897795 6p21.2 6 38860490G> A null E K 1998 1998 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1381598975 6p21.2 6 38860495G> T null W C 1999 1999 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs995046757 6p21.2 6 38860494G> T null W L 1999 1999 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs867055592 6p21.2 6 38860502C> A null Q K 2002 2002 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1380685447 6p21.2 6 38860508A> G null R G 2004 2004 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1563022487 6p21.2 6 38860511T> C null F L 2005 2005 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs142910384 6p21.2 6 38860515A> T null Y F 2006 2006 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1309844027 6p21.2 6 38860517T> C null F L 2007 2007 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1341162834 6p21.2 6 38860524A> G null E G 2009 2009 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775422657 6p21.2 6 38860528T> A null D E 2010 2010 missense 0.995 probably damaging 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs762397682 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38860533A> G null D G 2012 2012 missense 0.998 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000686927 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1309334131 6p21.2 6 38860532G> A null D N 2012 2012 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763688560 6p21.2 6 38860541G> A null V M 2015 2015 missense 0.495 possibly damaging 0.3 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1209152310 6p21.2 6 38860553A> G null T A 2019 2019 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs765593777 6p21.2 6 38860557A> G null D G 2020 2020 missense 0.423 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761500520 6p21.2 6 38860556G> C null D H 2020 2020 missense 0.869 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767132184 6p21.2 6 38860560T> C null V A 2021 2021 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1202962059 6p21.2 6 38860559G> A null V I 2021 2021 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs267601016 6p21.2 6 38860562G> A null D N 2022 2022 missense 0.998 probably damaging 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs868195768 6p21.2 6 38860568A> G null I V 2024 2024 missense 0.0 benign 0.51 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754250696 6p21.2 6 38860578A> G null N S 2027 2027 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs267601017 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 6p21.2 6 38860580G> A null E K 2028 2028 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1427810154 6p21.2 6 38860590G> C null G A 2031 2031 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759982085 6p21.2 6 38860593G> A null C Y 2032 2032 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1043207748 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38860595A> G null T A 2033 2033 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs551526597 6p21.2 6 38860596C> G null T S 2033 2033 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs753290114 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38860601C> T null R C 2035 2035 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs758868992 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38860602G> A null R H 2035 2035 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs376679535 6p21.2 6 38860607G> T null V F 2037 2037 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751652764 6p21.2 6 38860608T> G null V G 2037 2037 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs376679535 6p21.2 6 38860607G> A null V I 2037 2037 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1344984811 6p21.2 6 38860612C> G null I M 2038 2038 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1301938853 6p21.2 6 38860627T> G null D E 2043 2043 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs200037660 cosmic curated [Cosmic]: prostate, [ClinVar]: Primary ciliary dyskinesia, [Cosmic]: lung pubmed:22722839,pubmed:22980975,cosmic_study:391,cosmic_study:431 6p21.2 6 38862285A> G null Y C 2046 2046 missense 0.999 probably damaging 0.0 deleterious 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000534499 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1358281395 6p21.2 6 38862284T> C null Y H 2046 2046 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs772890319 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38862290A> G null T A 2048 2048 missense 0.994 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000823917 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed rs760382625 6p21.2 6 38862291C> T null T M 2048 2048 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1036120879 6p21.2 6 38862308G> T null G C 2054 2054 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1425885529 6p21.2 6 38862311A> T null M L 2055 2055 missense 0.902 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763236157 6p21.2 6 38862315A> C null N T 2056 2056 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs774746325 6p21.2 6 38862319G> A null M I 2057 2057 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764606324 6p21.2 6 38862317A> T null M L 2057 2057 missense 0.902 possibly damaging 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1216177207 6p21.2 6 38862321G> A null G E 2058 2058 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1413407899 6p21.2 6 38862320G> A null G R 2058 2058 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1167091849 6p21.2 6 38862326G> A null A T 2060 2060 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759134218 6p21.2 6 38862329C> T null P S 2061 2061 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs756311363 6p21.2 6 38862332G> T null A S 2062 2062 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs756311363 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38862332G> A null A T 2062 2062 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs200319317 6p21.2 6 38862333C> T null A V 2062 2062 2.0E-4 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs865843196 6p21.2 6 38862336G> A null G E 2063 2063 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754740893 6p21.2 6 38862338C> T null P S 2064 2064 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs967690797 6p21.2 6 38862374A> T null M L 2076 2076 missense 0.902 possibly damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs989332520 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38862378G> A null G E 2077 2077 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1355251374 6p21.2 6 38862383T> A null C S 2079 2079 missense 0.108 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs914390992 6p21.2 6 38862399T> C null V A 2084 2084 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1228388444 6p21.2 6 38862401G> T null V F 2085 2085 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1291473150 6p21.2 6 38862402T> G null V G 2085 2085 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs748005521 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 6p21.2 6 38862404G> A null V M 2086 2086 missense 0.999 probably damaging 0.01 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1182174649 6p21.2 6 38862412T> G null N K 2088 2088 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1459353320 6p21.2 6 38862411A> G null N S 2088 2088 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP rs376215439 6p21.2 6 38862415C> G null C W 2089 2089 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs146195264 6p21.2 6 38862421T> A null D E 2091 2091 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1457315275 6p21.2 6 38862420A> G null D G 2091 2091 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1166855216 6p21.2 6 38862428G> C null D H 2094 2094 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs767015181 6p21.2 6 38862449A> T null I F 2101 2101 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs767015181 6p21.2 6 38862449A> G null I V 2101 2101 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1401188844 6p21.2 6 38863873G> A null G D 2104 2104 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780860610 6p21.2 6 38863875C> T null L F 2105 2105 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1358281716 6p21.2 6 38863881C> T null Q * 2107 2107 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs769531980 6p21.2 6 38863885C> A null S * 2108 2108 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs769531980 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38863885C> T null S L 2108 2108 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs748575207 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38863887G> T null G C 2109 2109 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748575207 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38863887G> A null G S 2109 2109 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs201462063 6p21.2 6 38863890T> C null S P 2110 2110 2.0E-4 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs146299075 6p21.2 6 38863896G> A null G S 2112 2112 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1488122812 6p21.2 6 38863908G> T null E * 2116 2116 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1213095001 6p21.2 6 38863910G> T null E D 2116 2116 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1217413328 6p21.2 6 38863909A> G null E G 2116 2116 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1265352467 6p21.2 6 38863916C> A null N K 2118 2118 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1377053927 6p21.2 6 38863924A> G null E G 2121 2121 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770946677 6p21.2 6 38863923G> A null E K 2121 2121 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1563035057 6p21.2 6 38863928G> T null L F 2122 2122 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs776821810 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38863927T> C null L S 2122 2122 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765563949 6p21.2 6 38863932G> A null V I 2124 2124 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765563949 6p21.2 6 38863932G> T null V L 2124 2124 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762857344 6p21.2 6 38863936T> C null L S 2125 2125 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554232544 6p21.2 6 38863941G> A null V M 2127 2127 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs997865092 6p21.2 6 38863944G> A null A T 2128 2128 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1361848839 6p21.2 6 38863947G> A null A T 2129 2129 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs764076499 6p21.2 6 38863950C> A null Q K 2130 2130 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1323450320 6p21.2 6 38863962A> G null I V 2134 2134 missense 0.976 probably damaging 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs751582101 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6p21.2 6 38863974G> A null A T 2138 2138 missense 0.366 benign 0.03 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1271186054 6p21.2 6 38863988A> T null R S 2142 2142 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750003404 6p21.2 6 38863997G> C null Q H 2145 2145 missense 0.997 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs757262289 6p21.2 6 38863995C> A null Q K 2145 2145 missense 0.985 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs780541458 6p21.2 6 38863996A> G null Q R 2145 2145 missense 0.99 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1325856361 6p21.2 6 38863998T> A null F I 2146 2146 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1288457242 6p21.2 6 38863999T> C null F S 2146 2146 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs779758002 6p21.2 6 38864002T> G null I S 2147 2147 missense 0.144 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs61758416 6p21.2 6 38864008C> A null S Y 2149 2149 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1022918229 6p21.2 6 38864011A> C null D A 2150 2150 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1266588383 6p21.2 6 38864012T> G null D E 2150 2150 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1022918229 6p21.2 6 38864011A> G null D G 2150 2150 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs548115896 6p21.2 6 38864010G> A null D N 2150 2150 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772446103 6p21.2 6 38864013G> A null G S 2151 2151 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778212992 6p21.2 6 38864014G> T null G V 2151 2151 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771527651 6p21.2 6 38864017A> G null D G 2152 2152 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747481849 6p21.2 6 38864016G> A null D N 2152 2152 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1409072779 6p21.2 6 38864019T> C null C R 2153 2153 missense 0.684 possibly damaging 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1455906180 6p21.2 6 38864023T> C null V A 2154 2154 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142694922 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38864022G> A null V I 2154 2154 2.0E-4 missense 0.994 probably damaging 0.12 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000803046 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775880026 6p21.2 6 38864027T> G null D E 2155 2155 missense 0.995 probably damaging 0.44 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769854103 6p21.2 6 38864025G> T null D Y 2155 2155 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1005307902 6p21.2 6 38864030A> C null L F 2156 2156 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762800922 6p21.2 6 38864034C> T null P S 2158 2158 missense 0.73 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs905096420 6p21.2 6 38864038A> T null E V 2159 2159 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763953846 6p21.2 6 38864040T> C null F L 2160 2160 missense 0.99 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1463871305 6p21.2 6 38864048C> G null I M 2162 2162 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751446301 6p21.2 6 38864046A> G null I V 2162 2162 missense 0.976 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs150999554 6p21.2 6 38864054A> C null L F 2164 2164 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs199517916 6p21.2 6 38864056C> A null T K 2165 2165 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199517916 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; impact. pubmed:24140581,cosmic_study:548 6p21.2 6 38864056C> T null T M 2165 2165 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs749832940 6p21.2 6 38864055A> C null T P 2165 2165 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779631693 6p21.2 6 38864058A> C null M L 2166 2166 missense 0.902 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1276189848 6p21.2 6 38866600T> G null Y D 2170 2170 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761670160 6p21.2 6 38866603G> T null A S 2171 2171 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs773222614 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414,cosmic_study:419 6p21.2 6 38866609C> T null R C 2173 2173 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139579198 cosmic curated [Cosmic]: prostate, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22610119,cosmic_study:329,cosmic_study:392 6p21.2 6 38866610G> A null R H 2173 2173 missense 0.998 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs139579198 6p21.2 6 38866610G> T null R L 2173 2173 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1199485098 6p21.2 6 38866616A> C null E A 2175 2175 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs373289918 6p21.2 6 38866629C> A null N K 2179 2179 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1354879895 6p21.2 6 38866638C> G null I M 2182 2182 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs892309036 6p21.2 6 38866640A> G null Q R 2183 2183 missense 0.311 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs999609652 6p21.2 6 38866646G> C null R T 2185 2185 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs373602975 6p21.2 6 38866654G> C null A P 2188 2188 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1173170111 6p21.2 6 38866655C> T null A V 2188 2188 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs757665480 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38866657A> G null M V 2189 2189 missense 0.959 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000698235 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1208004196 6p21.2 6 38866660A> G null M V 2190 2190 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781513432 6p21.2 6 38866664T> C null V A 2191 2191 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746359026 6p21.2 6 38866669G> A null D N 2193 2193 missense 0.998 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746359026 6p21.2 6 38866669G> T null D Y 2193 2193 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1440165210 6p21.2 6 38866676A> G null Q R 2195 2195 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1418032863 6p21.2 6 38866771C> G null I M 2196 2196 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs765618018 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38866777G> A null M I 2198 2198 missense 0.974 probably damaging 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000471841 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1207764103 6p21.2 6 38866780A> T null R S 2199 2199 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1361202447 6p21.2 6 38866786A> C null K N 2201 2201 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1242291908 6p21.2 6 38866785A> C null K T 2201 2201 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1329582329 6p21.2 6 38866788T> G null L R 2202 2202 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs961724755 6p21.2 6 38866790G> T null A S 2203 2203 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1365487570 6p21.2 6 38866799G> C null G R 2206 2206 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1385998241 6p21.2 6 38866800G> T null G V 2206 2206 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372147360 6p21.2 6 38866811A> G null N D 2210 2210 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs375364078 6p21.2 6 38866814G> T null V F 2211 2211 missense 0.718 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1237461986 6p21.2 6 38866818T> C null I T 2212 2212 missense 0.226 benign 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780706523 6p21.2 6 38866817A> G null I V 2212 2212 missense 0.009 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1284900345 6p21.2 6 38866822G> C null L F 2213 2213 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1188881523 6p21.2 6 38866821T> C null L S 2213 2213 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1353776663 6p21.2 6 38866824C> T null A V 2214 2214 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1408473930 6p21.2 6 38866833T> G null F C 2217 2217 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs571866276 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38866839T> C null V A 2219 2219 2.0E-4 missense 0.994 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000794218 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs571866276 6p21.2 6 38866839T> A null V D 2219 2219 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368252927 6p21.2 6 38866838G> A null V I 2219 2219 missense 0.994 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs534264075 6p21.2 6 38866841C> A null L I 2220 2220 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777610268 6p21.2 6 38866862C> T null Q * 2227 2227 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777610268 6p21.2 6 38866862C> G null Q E 2227 2227 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1402521217 6p21.2 6 38866868A> C null T P 2229 2229 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1563044711 6p21.2 6 38866872A> G null K R 2230 2230 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs991367838 6p21.2 6 38866876G> T null Q H 2231 2231 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141684275 6p21.2 6 38868062G> T null V F 2232 2232 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141684275 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38868062G> A null V I 2232 2232 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000800509 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1330491220 6p21.2 6 38868069A> G null Y C 2234 2234 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1481012460 6p21.2 6 38868086A> G null N D 2240 2240 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777871564 6p21.2 6 38868090T> G null I S 2241 2241 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1563049849 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38868089A> G null I V 2241 2241 missense 0.976 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000685312 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs953643178 6p21.2 6 38868092C> G null L V 2242 2242 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs200708402 6p21.2 6 38868098G> A null V I 2244 2244 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1233417584 6p21.2 6 38868110C> G null L V 2248 2248 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1179035059 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38868113G> A null G R 2249 2249 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs781008225 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38868117C> G null S C 2250 2250 missense 0.678 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs781008225 6p21.2 6 38868117C> T null S F 2250 2250 missense 0.61 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP rs1320995212 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38868122A> C null K Q 2252 2252 missense 0.998 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629482 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372163928 6p21.2 6 38868133A> C null R S 2255 2255 missense 0.988 probably damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs552357174 6p21.2 6 38868140G> A null D N 2258 2258 2.0E-4 missense 0.583 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554234145 6p21.2 6 38868143A> G null S G 2259 2259 missense 0.99 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs1018899864 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38868146G> A null E K 2260 2260 missense 0.996 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000544866 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1440106662 6p21.2 6 38868153G> A null S N 2262 2262 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs773895088 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38868156T> C null I T 2263 2263 missense 0.0 benign 0.26 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000795868 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs376781077 6p21.2 6 38868163G> T null M I 2265 2265 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1419922354 6p21.2 6 38868165G> A null R K 2266 2266 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1476765160 6p21.2 6 38868166A> T null R S 2266 2266 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,dbSNP,gnomAD rs766818202 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38868168G> A null G E 2267 2267 missense 0.999 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000811903 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1169872872 6p21.2 6 38868167G> A null G R 2267 2267 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754301957 6p21.2 6 38868175A> C null R S 2269 2269 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1414853287 6p21.2 6 38868177A> G null D G 2270 2270 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs760106714 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38868176G> T null D Y 2270 2270 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752764006 6p21.2 6 38868179A> G null M V 2271 2271 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs758431647 6p21.2 6 38868185C> T null L F 2273 2273 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs758431647 6p21.2 6 38868185C> A null L I 2273 2273 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764338465 6p21.2 6 38868193A> C null K N 2275 2275 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1321707522 6p21.2 6 38870401G> A null V I 2277 2277 missense 0.013 benign 0.57 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777130552 6p21.2 6 38870405A> G null D G 2278 2278 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1328776627 6p21.2 6 38870411A> T null D V 2280 2280 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1434750964 6p21.2 6 38870416C> T null P S 2282 2282 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1464451033 6p21.2 6 38870420T> G null L R 2283 2283 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765727795 6p21.2 6 38870423T> C null F S 2284 2284 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs113909197 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38870428A> G null S G 2286 2286 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000466183 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs111398454 6p21.2 6 38870429G> A null S N 2286 2286 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751699059 6p21.2 6 38870434A> C null I L 2288 2288 missense 0.976 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP,gnomAD rs1412777895 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38870436C> G null I M 2288 2288 missense 0.998 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000811789 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs374774952 6p21.2 6 38870440G> A null D N 2290 2290 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1245874391 6p21.2 6 38870443C> G null L V 2291 2291 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs951114259 6p21.2 6 38870467A> G null S G 2299 2299 missense 0.985 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP rs1269105628 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38870468G> A null S N 2299 2299 missense 0.99 probably damaging 0.02 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000692508 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1195094013 6p21.2 6 38870476T> C null Y H 2302 2302 missense 0.021 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779998983 6p21.2 6 38870494G> T null A S 2308 2308 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779998983 6p21.2 6 38870494G> A null A T 2308 2308 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1404026377 6p21.2 6 38870501C> G null A G 2310 2310 missense 0.017 benign 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1404026377 6p21.2 6 38870501C> T null A V 2310 2310 missense 0.068 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1372116031 6p21.2 6 38870504A> T null H L 2311 2311 missense 0.007 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1372116031 6p21.2 6 38870504A> C null H P 2311 2311 missense 0.054 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1372116031 6p21.2 6 38870504A> G null H R 2311 2311 missense 0.0 benign 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs370226425 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38870503C> T null H Y 2311 2311 missense 0.074 benign 0.04 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000704750 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes rs532290730 6p21.2 6 38870517A> G null I M 2315 2315 2.0E-4 missense 0.059 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1232693686 6p21.2 6 38870516T> C null I T 2315 2315 missense 0.018 benign 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1307310167 6p21.2 6 38870522G> T null G V 2317 2317 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747727253 6p21.2 6 38870533C> T null H Y 2321 2321 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1034546923 6p21.2 6 38870540C> G null P R 2323 2323 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773021493 6p21.2 6 38870547C> G null N K 2325 2325 missense 0.993 probably damaging 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1272523681 6p21.2 6 38870554C> A null L I 2328 2328 missense 0.995 probably damaging 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs143397128 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38870557G> T null V L 2329 2329 missense 0.146 benign 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000474058 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs143397128 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 6p21.2 6 38870557G> A null V M 2329 2329 missense 0.696 possibly damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1418094229 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 6p21.2 6 38870560C> G null Q E 2330 2330 missense 0.985 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554123455 6p21.2 6 38872548T> C null S P 2335 2335 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1359725663 6p21.2 6 38872552T> C null L S 2336 2336 missense 0.894 possibly damaging 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1419192629 6p21.2 6 38872554G> A null V I 2337 2337 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs148367783 6p21.2 6 38872557C> T null R W 2338 2338 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746621630 6p21.2 6 38872561A> G null H R 2339 2339 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs373404092 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38872560C> T null H Y 2339 2339 missense 0.993 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629376 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs932781204 6p21.2 6 38872568G> T null L F 2341 2341 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1300084561 6p21.2 6 38872569A> T null M L 2342 2342 missense 0.902 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1395516781 6p21.2 6 38872573C> A null T N 2343 2343 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1357454308 6p21.2 6 38872576T> A null L H 2344 2344 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1259913382 6p21.2 6 38872582C> G null P R 2346 2346 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs891346358 6p21.2 6 38872584A> G null S G 2347 2347 missense 0.243 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749670952 6p21.2 6 38872585G> C null S T 2347 2347 missense 0.243 benign 0.53 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1252696160 6p21.2 6 38872587G> A null G S 2348 2348 missense 0.173 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1342509606 6p21.2 6 38872588G> T null G V 2348 2348 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1209723351 6p21.2 6 38872594G> T null G V 2350 2350 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769097965 6p21.2 6 38872597A> G null K R 2351 2351 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1486380664 6p21.2 6 38872600C> A null T K 2352 2352 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs774857869 6p21.2 6 38872603C> A null T N 2353 2353 missense 0.068 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1354862504 6p21.2 6 38872606T> C null V A 2354 2354 missense 0.985 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs761837303 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.2 6 38872605G> A null V I 2354 2354 missense 0.986 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767784878 6p21.2 6 38872609T> C null I T 2355 2355 missense 0.011 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773388584 6p21.2 6 38872612C> T null T M 2356 2356 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs766688342 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 6p21.2 6 38872617C> G null L V 2358 2358 missense 0.995 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753509409 6p21.2 6 38872621T> A null M K 2359 2359 missense 0.156 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs375336311 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38872626G> T null A S 2361 2361 missense 0.009 benign 0.18 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629504 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1361266974 6p21.2 6 38872627C> T null A V 2361 2361 missense 0.237 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765227049 6p21.2 6 38872629C> A null Q K 2362 2362 missense 0.025 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs537105066 6p21.2 6 38872637A> C null E D 2364 2364 missense 0.147 benign 0.55 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1349383136 6p21.2 6 38872638T> A null C S 2365 2365 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs918204097 6p21.2 6 38872642G> A null G E 2366 2366 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs549318995 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38872641G> A null G R 2366 2366 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs549318995 6p21.2 6 38872641G> C null G R 2366 2366 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs756796684 6p21.2 6 38872646G> T null R S 2367 2367 missense 0.108 benign 0.56 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780915673 6p21.2 6 38872647C> A null P T 2368 2368 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1163353343 6p21.2 6 38872650C> T null H Y 2369 2369 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs769036544 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38872659A> G null M V 2372 2372 missense 0.043 benign 0.08 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000475371 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs779286785 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.2 6 38872662C> T null R * 2373 2373 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141532428 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38872668A> C null N H 2375 2375 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000471047 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs772627456 6p21.2 6 38872669A> G null N S 2375 2375 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs76153632 6p21.2 6 38872672C> A null P Q 2376 2376 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773162903 6p21.2 6 38872684C> T null T I 2380 2380 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1260652801 6p21.2 6 38872687C> T null A V 2381 2381 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1345874690 6p21.2 6 38872694G> C null Q H 2383 2383 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771001804 6p21.2 6 38872695A> T null M L 2384 2384 missense 0.902 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1330094908 6p21.2 6 38872701G> T null G C 2386 2386 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs776942951 6p21.2 6 38872707C> G null L V 2388 2388 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61758417 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38872716G> T null A S 2391 2391 0.04792 missense 0.997 probably damaging 0.04 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000463508 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP rs369471873 6p21.2 6 38872720C> T null T I 2392 2392 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs377740147 6p21.2 6 38872722A> G null N D 2393 2393 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs377740147 6p21.2 6 38872722A> C null N H 2393 2393 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775481465 6p21.2 6 38872723A> G null N S 2393 2393 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs762976815 6p21.2 6 38872726A> T null D V 2394 2394 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764094245 6p21.2 6 38872735A> G null D G 2397 2397 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed rs750973619 6p21.2 6 38872740A> G null I V 2399 2399 missense 0.976 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767042034 6p21.2 6 38872750C> T null T I 2402 2402 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs373052203 6p21.2 6 38872759G> T null R I 2405 2405 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes rs551727664 6p21.2 6 38872776A> G null K E 2411 2411 2.0E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1324312656 6p21.2 6 38872777A> G null K R 2411 2411 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757761049 6p21.2 6 38872920C> T null L F 2418 2418 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs967704640 6p21.2 6 38872923A> T null I F 2419 2419 missense 0.355 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs967704640 6p21.2 6 38872923A> C null I L 2419 2419 missense 0.026 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1354819393 6p21.2 6 38872933G> A null G D 2422 2422 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs544209258 6p21.2 6 38872949C> G null I M 2427 2427 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770081064 6p21.2 6 38872950T> C null W R 2428 2428 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs954477155 6p21.2 6 38872960A> T null N I 2431 2431 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768471074 6p21.2 6 38872972T> C null V A 2435 2435 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs749048233 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:416 6p21.2 6 38872971G> A null V I 2435 2435 missense 0.994 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774066833 6p21.2 6 38872981A> G null D G 2438 2438 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1246465613 6p21.2 6 38872980G> A null D N 2438 2438 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761800731 6p21.2 6 38872984A> G null N S 2439 2439 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771972862 6p21.2 6 38872995A> T null T S 2443 2443 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs918102003 6p21.2 6 38873008G> C null G A 2447 2447 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765968561 6p21.2 6 38873011A> C null D A 2448 2448 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765968561 6p21.2 6 38873011A> G null D G 2448 2448 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs868098416 6p21.2 6 38873013C> T null R C 2449 2449 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs149449115 6p21.2 6 38873014G> T null R L 2449 2449 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764505999 6p21.2 6 38873017T> C null I T 2450 2450 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1037321155 6p21.2 6 38873020C> G null P R 2451 2451 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1196524594 6p21.2 6 38873019C> T null P S 2451 2451 missense 0.999 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,gnomAD rs376153263 6p21.2 6 38873023T> A null M K 2452 2452 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,gnomAD rs376153263 6p21.2 6 38873023T> C null M T 2452 2452 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757714359 6p21.2 6 38873022A> G null M V 2452 2452 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1278517785 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38873029C> T null P L 2454 2454 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1315348214 6p21.2 6 38873031A> T null S C 2455 2455 missense 0.58 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs144169004 6p21.2 6 38873034T> G null C G 2456 2456 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1271072061 6p21.2 6 38873040C> T null L F 2458 2458 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1335751538 6p21.2 6 38873044T> A null L Q 2459 2459 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749508259 6p21.2 6 38873049G> A null E K 2461 2461 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs201809379 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38873052G> A null V I 2462 2462 missense 0.99 probably damaging 0.03 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000537487 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778767913 6p21.2 6 38873056A> G null H R 2463 2463 missense 0.387 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs942036738 6p21.2 6 38873061A> G null I V 2465 2465 missense 0.976 probably damaging 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1430752700 6p21.2 6 38873064G> C null E Q 2466 2466 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1192386572 6p21.2 6 38873068A> G null N S 2467 2467 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760138551 6p21.2 6 38873085G> A null V I 2473 2473 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs770404842 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38873098G> A null G D 2477 2477 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1174911816 6p21.2 6 38873101T> C null M T 2478 2478 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs776175035 6p21.2 6 38873107A> G null Y C 2480 2480 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1220862880 6p21.2 6 38873116G> C null S T 2483 2483 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764800306 6p21.2 6 38873127A> C null S R 2487 2487 missense 0.134 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1439218660 6p21.2 6 38873136C> A null P T 2490 2490 missense 0.226 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148698911 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38873139A> G null I V 2491 2491 0.002196 missense 0.009 benign 0.19 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629642 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1253356713 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 6p21.2 6 38873252G> A null R H 2499 2499 missense 0.141 benign 0.04 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1322545948 6p21.2 6 38873263G> C null E Q 2503 2503 missense 0.997 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767000530 6p21.2 6 38873270C> T null A V 2505 2505 missense 0.0 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755038127 6p21.2 6 38873275T> C null F L 2507 2507 missense 0.001 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765459372 6p21.2 6 38873284C> G null L V 2510 2510 missense 0.861 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1191463357 6p21.2 6 38873288A> T null Y F 2511 2511 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752832768 6p21.2 6 38873290G> T null E * 2512 2512 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,dbSNP,gnomAD rs368018225 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38873292G> C null E D 2512 2512 missense 0.0 benign 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629366 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777539794 6p21.2 6 38873304A> C null E D 2516 2516 missense 0.013 benign 0.99 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs200028892 6p21.2 6 38873305G> T null D Y 2517 2517 missense 0.698 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757128062 6p21.2 6 38873308A> G null T A 2518 2518 missense 0.0 benign 0.53 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs892092769 6p21.2 6 38873311T> C null Y H 2519 2519 missense 0.021 benign 0.38 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1013341999 6p21.2 6 38873318A> G null Y C 2521 2521 missense 0.671 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781011370 6p21.2 6 38873320A> G null M V 2522 2522 missense 0.001 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP,gnomAD rs1253294161 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38873332C> A null L I 2526 2526 missense 0.995 probably damaging 0.04 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000818062 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs769151939 6p21.2 6 38873336A> G null N S 2527 2527 missense 0.0 benign 0.58 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775111744 6p21.2 6 38873338C> T null P S 2528 2528 missense 0.999 probably damaging 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1372873777 6p21.2 6 38873346G> T null M I 2530 2530 missense 0.974 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773647407 6p21.2 6 38873344A> C null M L 2530 2530 missense 0.902 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773647407 6p21.2 6 38873344A> G null M V 2530 2530 missense 0.959 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761137595 6p21.2 6 38873350C> T null L F 2532 2532 missense 0.999 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs912715455 6p21.2 6 38873366A> G null Y C 2537 2537 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1373687911 6p21.2 6 38873368A> T null I F 2538 2538 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1322318525 6p21.2 6 38873369T> C null I T 2538 2538 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs371695716 6p21.2 6 38873372T> G null V G 2539 2539 missense 0.068 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs747339640 6p21.2 6 38875592C> G null S C 2541 2541 missense 0.86 possibly damaging 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs747339640 6p21.2 6 38875592C> T null S F 2541 2541 missense 0.82 possibly damaging 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771169521 6p21.2 6 38875594C> T null L F 2542 2542 missense 0.619 possibly damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771169521 6p21.2 6 38875594C> G null L V 2542 2542 missense 0.129 benign 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1321507805 6p21.2 6 38875604T> C null L P 2545 2545 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs192474104 6p21.2 6 38875607A> T null E V 2546 2546 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1211028612 6p21.2 6 38875610G> A null G E 2547 2547 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770338262 6p21.2 6 38875613T> C null L S 2548 2548 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs865996205 6p21.2 6 38875617T> G null I M 2549 2549 missense 0.767 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1194541957 6p21.2 6 38875616T> A null I N 2549 2549 missense 0.871 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs529995536 cosmic curated [Cosmic]: liver cosmic_study:323 6p21.2 6 38875632A> C null E D 2554 2554 2.0E-4 missense 0.013 benign 0.26 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1156804668 6p21.2 6 38875630G> A null E K 2554 2554 missense 0.304 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP,gnomAD rs1457561714 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38875634G> A null G D 2555 2555 missense 1.0 probably damaging 0.15 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629347 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs369727162 6p21.2 6 38875636G> A null G S 2556 2556 missense 0.071 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs762067933 6p21.2 6 38875642T> C null S P 2558 2558 missense 0.23 benign 0.27 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs911672488 6p21.2 6 38875645T> C null C R 2559 2559 missense 0.265 benign 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs911672488 6p21.2 6 38875645T> A null C S 2559 2559 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs373152110 6p21.2 6 38875651G> A null E K 2561 2561 missense 0.049 benign 0.41 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1306894674 6p21.2 6 38875661A> G null H R 2564 2564 missense 0.046 benign 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755942243 6p21.2 6 38875673T> C null V A 2568 2568 missense 0.994 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1214532811 6p21.2 6 38875686G> T null M I 2572 2572 missense 0.974 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs151051760 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38875684A> C null M L 2572 2572 missense 0.902 possibly damaging 0.06 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000525952 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs151051760 6p21.2 6 38875684A> T null M L 2572 2572 missense 0.902 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1248716479 6p21.2 6 38875689G> T null W C 2573 2573 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1479697033 6p21.2 6 38875692T> A null S R 2574 2574 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs563620555 6p21.2 6 38875696G> A null G R 2576 2576 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1472854512 6p21.2 6 38875702C> G null L V 2578 2578 missense 0.357 benign 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746256960 6p21.2 6 38875717A> C null S R 2583 2583 missense 0.191 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770149516 6p21.2 6 38875720A> G null R G 2584 2584 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1054646525 6p21.2 6 38875733A> G null E G 2588 2588 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1351314682 6p21.2 6 38875732G> A null E K 2588 2588 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113332942 6p21.2 6 38875744C> G null R G 2592 2592 2.0E-4 missense 0.508 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777651701 6p21.2 6 38875745G> C null R P 2592 2592 missense 0.818 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777651701 6p21.2 6 38875745G> A null R Q 2592 2592 missense 0.021 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs113332942 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38875744C> T null R W 2592 2592 2.0E-4 missense 0.885 possibly damaging 0.05 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000475032 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1281732399 6p21.2 6 38875749G> C null Q H 2593 2593 missense 0.0 benign 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs145697663 6p21.2 6 38875751A> T null H L 2594 2594 missense 0.997 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774467668 6p21.2 6 38875756A> G null S G 2596 2596 missense 0.243 benign 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs775113791 6p21.2 6 38875757G> A null S N 2596 2596 missense 0.329 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs775113791 6p21.2 6 38875757G> C null S T 2596 2596 missense 0.014 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs746945226 6p21.2 6 38875759A> G null K E 2597 2597 missense 0.046 benign 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554124713 6p21.2 6 38875761G> T null K N 2597 2597 missense 0.001 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs746945226 6p21.2 6 38875759A> C null K Q 2597 2597 missense 0.068 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs749731714 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38875763de l null L null 2598 2598 frameshift 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629385 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761932451 6p21.2 6 38875763T> A null L * 2598 2598 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs149015796 6p21.2 6 38875772C> T null P L 2601 2601 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs571499719 6p21.2 6 38875783A> G null K E 2605 2605 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760543824 6p21.2 6 38875786G> A null G S 2606 2606 missense 0.133 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs533990732 6p21.2 6 38875787G> T null G V 2606 2606 2.0E-4 missense 0.51 possibly damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs907314611 6p21.2 6 38875790C> G null S * 2607 2607 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1182168966 6p21.2 6 38875803G> A null M I 2611 2611 missense 0.005 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753797970 6p21.2 6 38875805A> G null Y C 2612 2612 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1407822445 6p21.2 6 38875810T> G null F V 2614 2614 missense 0.329 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs778554035 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38875820C> T null T I 2617 2617 missense 0.661 possibly damaging 0.07 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000821988 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1415506933 6p21.2 6 38882912G> T null D Y 2621 2621 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,dbSNP,gnomAD rs766256391 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38882917G> A null W * 2622 2622 stop gained 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000461675 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1336772417 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.2 6 38882916G> A null W * 2622 2622 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs776625731 6p21.2 6 38882926G> C null W C 2625 2625 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1321449040 6p21.2 6 38882933A> G null K E 2628 2628 missense 0.133 benign 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1367544031 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.2 6 38882939C> T null Q * 2630 2630 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759542408 6p21.2 6 38882940A> C null Q P 2630 2630 missense 0.293 benign 0.82 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765278298 6p21.2 6 38882946A> G null Y C 2632 2632 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs1583267887 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38882945_38882947TAT[2 ] null Y null 2634 2634 inframe deletion 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000792813 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1219721344 6p21.2 6 38882952A> T null Y F 2634 2634 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1364555255 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38882954C> T null P S 2635 2635 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752099198 6p21.2 6 38882957A> G null T A 2636 2636 missense 0.325 benign 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1445064881 6p21.2 6 38882964G> C null S T 2638 2638 missense 0.011 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1388041623 6p21.2 6 38882966A> G null I V 2639 2639 missense 0.0 benign 0.79 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369613804 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.2 6 38882970C> T null P L 2640 2640 missense 1.0 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs575069902 6p21.2 6 38882969C> A null P T 2640 2640 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs138415443 6p21.2 6 38882979C> A null S * 2643 2643 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs138415443 6p21.2 6 38882979C> T null S L 2643 2643 missense 0.003 benign 0.3 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs749654809 6p21.2 6 38882989G> T null L F 2646 2646 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs755422258 6p21.2 6 38882990G> T null V F 2647 2647 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs755422258 6p21.2 6 38882990G> A null V I 2647 2647 missense 0.994 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1174821026 6p21.2 6 38882993C> A null P T 2648 2648 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1406496029 6p21.2 6 38883006A> G null N S 2652 2652 missense 0.994 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs779421186 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38883017A> C null N H 2656 2656 missense 0.506 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1438712180 6p21.2 6 38883019T> G null N K 2656 2656 missense 0.068 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs372849137 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38883020T> C null F L 2657 2657 missense 0.99 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629508 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1366281138 6p21.2 6 38883021T> C null F S 2657 2657 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs753496815 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38883029_38883030du p null D null 2660 2660 frameshift 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000524761 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs862432 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38883033C> A null T N 2661 2661 0.07368 missense 0.8 possibly damaging 0.12 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000460338 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs862432 6p21.2 6 38883033C> G null T S 2661 2661 0.07368 missense 0.458 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs537435730 6p21.2 6 38883032A> T null T S 2661 2661 2.0E-4 missense 0.458 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,dbSNP,gnomAD rs575966640 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38883035A> G null I V 2662 2662 missense 0.976 probably damaging 0.2 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000690493 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1272485320 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 6p21.2 6 38883038G> T null A S 2663 2663 missense 0.997 probably damaging 0.15 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1348383754 6p21.2 6 38883047C> T null H Y 2666 2666 missense 0.0 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759425666 6p21.2 6 38883050A> G null K E 2667 2667 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1482469083 6p21.2 6 38883325G> C null V L 2669 2669 missense 0.319 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1481491362 6p21.2 6 38883335C> A null T K 2672 2672 missense 0.387 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1176761622 6p21.2 6 38883344A> C null Q P 2675 2675 missense 0.996 probably damaging 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1474425284 6p21.2 6 38883352G> C null A P 2678 2678 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145365277 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38883366G> A null M I 2682 2682 2.0E-4 missense 0.974 probably damaging 0.5 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000459688 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775202503 6p21.2 6 38883367G> T null V F 2683 2683 missense 0.35 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762939347 6p21.2 6 38883370A> G null K E 2684 2684 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs149884780 6p21.2 6 38883371A> G null K R 2684 2684 2.0E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs373111234 6p21.2 6 38883373G> C null A P 2685 2685 missense 0.751 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761338387 6p21.2 6 38883374C> T null A V 2685 2685 missense 0.568 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs938811322 6p21.2 6 38883377A> G null Y C 2686 2686 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs76526030 6p21.2 6 38883387A> T null K N 2689 2689 missense 0.705 possibly damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750050882 6p21.2 6 38883393T> A null D E 2691 2691 missense 0.325 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760373475 6p21.2 6 38883394C> T null P S 2692 2692 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760373475 6p21.2 6 38883394C> A null P T 2692 2692 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765621822 6p21.2 6 38883400G> A null V I 2694 2694 missense 0.003 benign 0.47 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765621822 6p21.2 6 38883400G> T null V L 2694 2694 missense 0.003 benign 0.67 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753070068 6p21.2 6 38883403C> T null Q * 2695 2695 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1205327006 6p21.2 6 38883405G> C null Q H 2695 2695 missense 0.005 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778164500 6p21.2 6 38883409T> C null S P 2697 2697 missense 0.686 possibly damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751647473 6p21.2 6 38883431C> G null S C 2704 2704 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751647473 6p21.2 6 38883431C> T null S F 2704 2704 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751647473 6p21.2 6 38883431C> A null S Y 2704 2704 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1257242633 6p21.2 6 38883433G> T null A S 2705 2705 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1257242633 6p21.2 6 38883433G> A null A T 2705 2705 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757381549 6p21.2 6 38883443C> A null P Q 2708 2708 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746071253 6p21.2 6 38883450G> A null M I 2710 2710 missense 0.974 probably damaging 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs141672135 6p21.2 6 38883448A> T null M L 2710 2710 missense 0.902 possibly damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1338691565 6p21.2 6 38883451T> A null F I 2711 2711 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs779442491 6p21.2 6 38883453T> G null F L 2711 2711 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554127099 6p21.2 6 38883877G> A null R K 2713 2713 missense 0.89 possibly damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1001423673 6p21.2 6 38883883T> A null I N 2715 2715 missense 0.405 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs756299907 6p21.2 6 38883882A> G null I V 2715 2715 missense 0.0 benign 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,gnomAD rs371141944 6p21.2 6 38883886A> T null E V 2716 2716 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1197379839 6p21.2 6 38883889G> A null S N 2717 2717 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1459906449 6p21.2 6 38883892A> G null Y C 2718 2718 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs749073543 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38883894G> A null V M 2719 2719 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs139459495 6p21.2 6 38883899T> G null D E 2720 2720 missense 0.995 probably damaging 0.72 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1301374653 6p21.2 6 38883897G> A null D N 2720 2720 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754700266 6p21.2 6 38883898A> T null D V 2720 2720 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs367911257 6p21.2 6 38883903C> T null R * 2722 2722 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1330298296 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38883904G> A null R Q 2722 2722 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1251438338 6p21.2 6 38883913G> A null S N 2725 2725 missense 0.993 probably damaging 0.28 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1488192188 6p21.2 6 38883914C> A null S R 2725 2725 missense 0.997 probably damaging 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs142939612 6p21.2 6 38883916C> T null T I 2726 2726 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746537450 6p21.2 6 38883919A> G null Y C 2727 2727 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770575477 6p21.2 6 38883921G> C null G R 2728 2728 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1410924410 6p21.2 6 38883924C> T null P S 2729 2729 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs560954239 6p21.2 6 38883927C> T null P S 2730 2730 2.0E-4 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764351435 6p21.2 6 38883930G> A null G R 2731 2731 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs769402373 6p21.2 6 38883944G> T null M I 2735 2735 missense 0.122 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs774918876 6p21.2 6 38883945A> T null T S 2736 2736 missense 0.958 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs182555083 6p21.2 6 38883949T> C null V A 2737 2737 2.0E-4 missense 0.1 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762339455 6p21.2 6 38883948G> A null V I 2737 2737 missense 0.005 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1408510896 6p21.2 6 38883954A> G null I V 2739 2739 missense 0.455 possibly damaging 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750478940 6p21.2 6 38883959T> A null D E 2740 2740 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs371362386 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38883963A> C null I L 2742 2742 missense 0.104 benign 0.1 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000533502 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs879429285 6p21.2 6 38883964T> C null I T 2742 2742 missense 0.329 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs924238536 6p21.2 6 38883970T> C null M T 2744 2744 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1321282614 6p21.2 6 38883975G> A null V M 2746 2746 missense 0.014 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755288863 6p21.2 6 38883982A> C null N T 2748 2748 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs992966820 6p21.2 6 38883991G> A null G E 2751 2751 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1170810602 6p21.2 6 38883990G> A null G R 2751 2751 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1463726521 6p21.2 6 38886791A> G null I V 2754 2754 missense 0.003 benign 0.75 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777592801 6p21.2 6 38886799T> A null N K 2756 2756 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP rs145198031 6p21.2 6 38886803A> G null I V 2758 2758 missense 0.976 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs776257226 6p21.2 6 38886809C> T null R * 2760 2760 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,NCI-TCGA rs543347999 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38886810G> A null R Q 2760 2760 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs952522528 6p21.2 6 38886827G> A null E K 2766 2766 missense 0.919 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757286533 6p21.2 6 38886828A> T null E V 2766 2766 missense 0.982 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs780498241 6p21.2 6 38886834T> C null M T 2768 2768 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs745392896 6p21.2 6 38886838C> G null Y * 2769 2769 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1261858637 6p21.2 6 38886836T> C null Y H 2769 2769 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1326044099 6p21.2 6 38886847C> G null D E 2772 2772 missense 0.995 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs144296783 6p21.2 6 38886851C> T null P S 2774 2774 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs144296783 6p21.2 6 38886851C> A null P T 2774 2774 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs748991227 6p21.2 6 38886857G> T null D Y 2776 2776 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs899750674 6p21.2 6 38886860T> C null F L 2777 2777 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1463239489 6p21.2 6 38886864C> T null T I 2778 2778 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs996740160 6p21.2 6 38886863A> C null T P 2778 2778 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1253680773 6p21.2 6 38886866A> G null T A 2779 2779 missense 0.994 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142328376 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38886870T> C null I T 2780 2780 0.001597 missense 0.995 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000210500 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116401640 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38886869A> G null I V 2780 2780 0.005192 missense 0.976 probably damaging 0.16 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000467794 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1450838882 6p21.2 6 38886875G> T null D Y 2782 2782 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771474451 6p21.2 6 38886882A> G null Q R 2784 2784 missense 0.311 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs151260543 6p21.2 6 38886884C> T null L F 2785 2785 missense 0.005 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1415562675 6p21.2 6 38886885T> A null L H 2785 2785 missense 0.678 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs759685756 6p21.2 6 38886887A> C null I L 2786 2786 missense 0.976 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs140462076 6p21.2 6 38886890G> C null A P 2787 2787 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs140462076 6p21.2 6 38886890G> A null A T 2787 2787 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed,gnomAD rs373433461 6p21.2 6 38886893G> A null A T 2788 2788 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554127883 6p21.2 6 38886894C> T null A V 2788 2788 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1321513367 NCI-TCGA Cosmic [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22842228,cosmic_study:511 6p21.2 6 38886898G> A null M I 2789 2789 missense 0.974 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs987930672 6p21.2 6 38886897T> A null M K 2789 2789 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs752892989 6p21.2 6 38886896A> G null M V 2789 2789 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs144518341 6p21.2 6 38886905C> T null P S 2792 2792 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1274347654 6p21.2 6 38886912G> A null G D 2794 2794 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs763871040 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:413 6p21.2 6 38886917C> T null R * 2796 2796 missense 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs576946348 6p21.2 6 38886918G> T null R L 2796 2796 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs576946348 NCI-TCGA Cosmic [Cosmic]: skin, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22842228,pubmed:23104009,cosmic_study:449,cosmic_study:511 6p21.2 6 38886918G> A null R Q 2796 2796 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs781208495 6p21.2 6 38886921A> G null N S 2797 2797 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1326877040 6p21.2 6 38886927T> C null I T 2799 2799 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749857369 6p21.2 6 38886932C> A null Q K 2801 2801 missense 0.985 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755651983 6p21.2 6 38886935C> T null R C 2802 2802 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs779761647 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.2 6 38886936G> A null R H 2802 2802 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs146625912 6p21.2 6 38886949A> T null Q H 2806 2806 missense 0.005 benign 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1049956083 6p21.2 6 38886950T> C null F L 2807 2807 missense 0.99 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1478614446 6p21.2 6 38886951T> C null F S 2807 2807 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777937276 6p21.2 6 38886953A> G null T A 2808 2808 missense 0.145 benign 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs747414107 6p21.2 6 38886966G> A null C Y 2812 2812 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771294349 6p21.2 6 38886974C> G null P A 2815 2815 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1249946781 6p21.2 6 38886983G> A null A T 2818 2818 missense 0.0 benign 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs553604610 6p21.2 6 38886990T> C null I T 2820 2820 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1470082497 6p21.2 6 38886989A> G null I V 2820 2820 missense 0.976 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1158168377 6p21.2 6 38886993A> G null D G 2821 2821 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1227622161 6p21.2 6 38887002T> G null F C 2824 2824 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs762625105 6p21.2 6 38887001T> G null F V 2824 2824 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs374402777 6p21.2 6 38890652G> C null G A 2825 2825 missense 0.636 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1315567970 6p21.2 6 38890654A> G null I V 2826 2826 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs908164854 6p21.2 6 38890660G> T null G * 2828 2828 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1260992269 6p21.2 6 38890665T> A null C * 2829 2829 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1487850986 6p21.2 6 38890667_38890669du p null G * 2830 2831 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs141362542 6p21.2 6 38890671C> A null Y * 2831 2831 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs200500474 6p21.2 6 38890675G> T null D Y 2833 2833 missense 0.812 possibly damaging 0.44 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1454124610 6p21.2 6 38890679C> T null P L 2834 2834 missense 0.156 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760626246 6p21.2 6 38890678C> T null P S 2834 2834 missense 0.017 benign 0.74 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1362510994 6p21.2 6 38890681T> C null C R 2835 2835 missense 0.299 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1333274783 6p21.2 6 38890685G> A null R K 2836 2836 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753350828 6p21.2 6 38890688G> T null S I 2837 2837 missense 0.081 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1340908139 6p21.2 6 38890703T> C null I T 2842 2842 missense 0.1 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs377381072 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38890702A> G null I V 2842 2842 0.001997 missense 0.001 benign 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000532131 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs937388868 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38890705T> C null C R 2843 2843 missense 0.148 benign 0.76 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752375333 6p21.2 6 38890710G> C null E D 2844 2844 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1292470887 6p21.2 6 38890730C> T null S L 2851 2851 missense 0.003 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1200179996 6p21.2 6 38890729T> C null S P 2851 2851 missense 0.33 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781551292 6p21.2 6 38890735G> A null G S 2853 2853 missense 0.021 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746244814 6p21.2 6 38890738A> G null R G 2854 2854 missense 0.477 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs112296336 6p21.2 6 38890751A> G null Q R 2858 2858 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1330040224 6p21.2 6 38894701G> T null V L 2862 2862 missense 0.0 benign 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs993212091 6p21.2 6 38894705A> C null K T 2863 2863 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1216272230 6p21.2 6 38894709G> A null M I 2864 2864 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772288325 6p21.2 6 38894714C> T null P L 2866 2866 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778175950 6p21.2 6 38894717C> T null T I 2867 2867 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770831033 6p21.2 6 38894732A> T null H L 2872 2872 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370299465 6p21.2 6 38894731C> A null H N 2872 2872 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770831033 6p21.2 6 38894732A> G null H R 2872 2872 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs759812696 6p21.2 6 38894735A> G null Y C 2873 2873 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1179670836 6p21.2 6 38894734T> C null Y H 2873 2873 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1554129791 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38894738T> A null I N 2874 2874 missense 0.998 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629444 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1388110029 6p21.2 6 38894737A> G null I V 2874 2874 missense 0.976 probably damaging 0.84 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759448809 6p21.2 6 38894742C> G null F L 2875 2875 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,gnomAD rs138885783 6p21.2 6 38894744A> G null N S 2876 2876 missense 0.994 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs149070832 NCI-TCGA Cosmic [ClinVar]: Primary ciliary dyskinesia, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.2 6 38894749C> T null R * 2878 2878 stop gained 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000809648 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs775011889 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38894750G> A null R Q 2878 2878 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1034728161 6p21.2 6 38894770C> T null Q * 2885 2885 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762400523 6p21.2 6 38894771A> G null Q R 2885 2885 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1367927566 6p21.2 6 38894778G> A null M I 2887 2887 missense 0.974 probably damaging 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763633800 6p21.2 6 38894781G> C null L F 2888 2888 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1307756665 6p21.2 6 38894782A> C null T P 2889 2889 missense 0.23 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs373858239 6p21.2 6 38894785A> G null I V 2890 2890 missense 0.009 benign 0.92 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1301374240 6p21.2 6 38894790A> T null K N 2891 2891 missense 0.588 possibly damaging 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs754160223 6p21.2 6 38894797G> A null E K 2894 2894 missense 0.996 probably damaging 0.47 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372338740 6p21.2 6 38894800T> C null C R 2895 2895 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs752786346 6p21.2 6 38894803G> A null A T 2896 2896 missense 0.001 benign 0.85 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1490809963 6p21.2 6 38894809A> G null I V 2898 2898 missense 0.0 benign 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1371596272 6p21.2 6 38894815A> G null T A 2900 2900 missense 0.043 benign 0.41 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1250776496 6p21.2 6 38894816C> T null T I 2900 2900 missense 0.0 benign 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs758380863 6p21.2 6 38894827C> T null L F 2904 2904 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs564511128 6p21.2 6 38894838C> G null H Q 2907 2907 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,gnomAD rs201862791 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38894839G> A null E K 2908 2908 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs745669459 6p21.2 6 38894844C> A null C * 2909 2909 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769727126 6p21.2 6 38894846G> A null S N 2910 2910 missense 0.0 benign 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed rs749296537 6p21.2 6 38894860G> T null D Y 2915 2915 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768139048 6p21.2 6 38894864G> A null R K 2916 2916 missense 0.99 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs148193715 6p21.2 6 38896037A> T null I L 2918 2918 missense 0.065 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1437741186 6p21.2 6 38896039A> G null I M 2918 2918 missense 0.662 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs148193715 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38896037A> G null I V 2918 2918 missense 0.009 benign 0.23 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000802394 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1007741043 6p21.2 6 38896041C> T null T I 2919 2919 missense 0.009 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1425431031 6p21.2 6 38896043C> T null P S 2920 2920 missense 0.001 benign 0.96 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs369304378 6p21.2 6 38896046G> T null E * 2921 2921 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1242225781 6p21.2 6 38896051T> G null D E 2922 2922 missense 0.325 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed,gnomAD rs142674094 6p21.2 6 38896054G> T null E D 2923 2923 missense 0.482 possibly damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1349700368 6p21.2 6 38896057G> C null Q H 2924 2924 missense 0.0 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1190033436 6p21.2 6 38896055C> A null Q K 2924 2924 missense 0.011 benign 0.56 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1424866524 6p21.2 6 38896059G> A null W * 2925 2925 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764716351 6p21.2 6 38896065A> G null N S 2927 2927 missense 0.01 benign 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs372046397 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38896077C> G null T S 2931 2931 missense 0.0 benign 0.66 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000806121 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs367945482 6p21.2 6 38896079C> T null R C 2932 2932 missense 0.768 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs202061074 6p21.2 6 38896080G> A null R H 2932 2932 missense 0.005 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs766209240 6p21.2 6 38896083C> T null A V 2933 2933 missense 0.011 benign 0.81 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1031668402 6p21.2 6 38896086T> C null V A 2934 2934 missense 0.1 benign 0.58 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1299107318 6p21.2 6 38896094A> G null N D 2937 2937 missense 0.068 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750596317 6p21.2 6 38896097A> C null I L 2938 2938 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1378988339 6p21.2 6 38896098T> C null I T 2938 2938 missense 0.001 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750596317 6p21.2 6 38896097A> G null I V 2938 2938 missense 0.0 benign 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779645893 6p21.2 6 38896100G> T null G C 2939 2939 missense 0.58 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779645893 6p21.2 6 38896100G> C null G R 2939 2939 missense 0.134 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs753649297 6p21.2 6 38896110C> T null A V 2942 2942 missense 0.0 benign 0.62 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs147434805 6p21.2 6 38896113C> T null A V 2943 2943 missense 0.0 benign 0.71 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs778854844 6p21.2 6 38896116C> T null S L 2944 2944 missense 0.072 benign 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1364844089 6p21.2 6 38896115T> C null S P 2944 2944 missense 0.003 benign 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771465750 6p21.2 6 38896128C> G null P R 2948 2948 missense 0.068 benign 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP rs980617815 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38896127C> T null P S 2948 2948 missense 0.046 benign 0.54 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629349 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746640155 6p21.2 6 38896137A> G null Y C 2951 2951 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1448270591 6p21.2 6 38896136T> C null Y H 2951 2951 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1230307014 6p21.2 6 38896146A> G null D G 2954 2954 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561832004 6p21.2 6 38896151C> G null L V 2956 2956 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs143707632 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia, [Cosmic]: lung cosmic_study:418 6p21.2 6 38896154C> T null R C 2957 2957 2.0E-4 missense 0.003 benign 0.0 deleterious 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000459200 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs763438877 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38896155G> A null R H 2957 2957 missense 0.003 benign 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629315 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs762468209 6p21.2 6 38896169C> G null P A 2962 2962 missense 0.304 benign 0.68 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs762468209 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38896169C> T null P S 2962 2962 missense 0.661 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1410243772 6p21.2 6 38896173C> G null T S 2963 2963 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767489659 6p21.2 6 38896180T> G null D E 2965 2965 missense 0.021 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1403732213 6p21.2 6 38896179A> G null D G 2965 2965 missense 0.51 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1236665193 6p21.2 6 38896184C> G null P A 2967 2967 missense 0.999 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1051840325 6p21.2 6 38896187G> C null E Q 2968 2968 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150571615 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38896194C> T null S F 2970 2970 7.99E-4 missense 0.001 benign 0.83 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000465892 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753591098 6p21.2 6 38896211A> G null K E 2976 2976 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1348456685 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 6p21.2 6 38896220G> A null E K 2979 2979 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs539475448 6p21.2 6 38898259T> C null M T 2981 2981 2.0E-4 missense 0.0 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1195355302 6p21.2 6 38898270G> C null D H 2985 2985 missense 0.531 possibly damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1450096135 6p21.2 6 38898273T> C null F L 2986 2986 missense 0.003 benign 0.7 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773118048 6p21.2 6 38898274T> C null F S 2986 2986 missense 0.003 benign 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760841441 6p21.2 6 38898283A> G null E G 2989 2989 missense 0.718 possibly damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1024394218 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 6p21.2 6 38898282G> A null E K 2989 2989 missense 0.648 possibly damaging 0.1 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs575113985 6p21.2 6 38898293G> C null Q H 2992 2992 5.99E-4 missense 0.413 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759815675 6p21.2 6 38898298A> G null Y C 2994 2994 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765016899 6p21.2 6 38898307A> G null Q R 2997 2997 missense 0.571 possibly damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs532968224 6p21.2 6 38898313A> G null N S 2999 2999 missense 0.602 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs545106616 6p21.2 6 38898321A> G null I V 3002 3002 missense 0.269 benign 0.66 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1554130647 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38898324A> G null R G 3003 3003 missense 0.995 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629330 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561834966 6p21.2 6 38898326A> T null R S 3003 3003 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs376991437 6p21.2 6 38898328G> T null G V 3004 3004 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1228365887 6p21.2 6 38898330A> G null T A 3005 3005 missense 0.023 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1412128449 6p21.2 6 38898331C> A null T K 3005 3005 missense 0.311 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751488925 6p21.2 6 38898339G> A null D N 3008 3008 missense 0.886 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756764956 6p21.2 6 38898340A> T null D V 3008 3008 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs199779645 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38898342C> A null L M 3009 3009 missense 0.276 benign 0.18 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629418 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1330158485 6p21.2 6 38898343T> C null L P 3009 3009 missense 0.898 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs573022869 6p21.2 6 38898354A> G null K E 3013 3013 3.99E-4 missense 0.775 possibly damaging 0.49 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs200370466 6p21.2 6 38898358A> G null D G 3014 3014 missense 0.886 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773738434 6p21.2 6 38898361C> A null A E 3015 3015 missense 0.081 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs772420159 6p21.2 6 38898360G> T null A S 3015 3015 missense 0.641 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs772420159 6p21.2 6 38898360G> A null A T 3015 3015 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773738434 6p21.2 6 38898361C> T null A V 3015 3015 missense 0.827 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,dbSNP,gnomAD rs776762950 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38898367C> T null T I 3017 3017 missense 0.998 probably damaging 0.97 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000556921 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs957250985 6p21.2 6 38898366A> T null T S 3017 3017 missense 0.994 probably damaging 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1294769569 6p21.2 6 38898369C> A null H N 3018 3018 missense 0.648 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1326318481 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38898376T> C null I T 3020 3020 missense 0.068 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1468598379 NCI-TCGA Cosmic [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22722829,cosmic_study:401 6p21.2 6 38898375A> G null I V 3020 3020 missense 0.0 benign 1.0 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1298465444 6p21.2 6 38899780C> T null S L 3023 3023 missense 0.034 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375764737 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:414 6p21.2 6 38899782C> T null R * 3024 3024 missense 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1223225126 cosmic curated [Cosmic]: large_intestine, [Cosmic]: oesophagus pubmed:22895193,pubmed:23525077,cosmic_study:452,cosmic_study:464 6p21.2 6 38899783G> A null R Q 3024 3024 missense 0.262 benign 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1471094722 6p21.2 6 38899785A> G null I V 3025 3025 missense 0.005 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778058262 6p21.2 6 38899790T> G null I M 3026 3026 missense 0.426 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs747550558 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:414 6p21.2 6 38899791C> T null R * 3027 3027 missense 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747550558 6p21.2 6 38899791C> G null R G 3027 3027 missense 0.171 benign 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs771436783 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 6p21.2 6 38899792G> A null R Q 3027 3027 missense 0.262 benign 0.01 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs568885985 6p21.2 6 38899795C> T null T M 3028 3028 2.0E-4 missense 0.692 possibly damaging 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1048366327 6p21.2 6 38899798C> T null S L 3029 3029 missense 0.003 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1401724946 6p21.2 6 38899801G> A null C Y 3030 3030 missense 0.603 possibly damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775756367 6p21.2 6 38899804G> C null G A 3031 3031 missense 0.383 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs1561836628 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38899807de l null N null 3032 3032 frameshift 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000686591 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1481200963 6p21.2 6 38899818G> A null V M 3036 3036 missense 0.684 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1182345838 6p21.2 6 38899822G> C null G A 3037 3037 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1453923548 6p21.2 6 38899824G> A null V I 3038 3038 missense 0.271 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774020061 6p21.2 6 38899830G> T null G C 3040 3040 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs201923604 6p21.2 6 38899836G> A null G R 3042 3042 3.99E-4 missense 0.696 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749914839 6p21.2 6 38899840A> T null K I 3043 3043 missense 0.61 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749914839 6p21.2 6 38899840A> G null K R 3043 3043 missense 0.189 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1226788615 6p21.2 6 38899843A> G null Q R 3044 3044 missense 0.135 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1306628399 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 38899848C> A null L I 3046 3046 missense 0.458 possibly damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1187571377 6p21.2 6 38899857T> G null L V 3049 3049 missense 0.013 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs369474132 6p21.2 6 38899872G> T null A S 3054 3054 missense 0.161 benign 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs753516152 6p21.2 6 38899876G> C null G A 3055 3055 missense 0.797 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs139564138 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38899879A> G null Y C 3056 3056 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629510 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1357130132 6p21.2 6 38899883A> C null Q H 3057 3057 missense 0.0 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778136677 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6p21.2 6 38899890C> A null Q K 3060 3060 missense 0.068 benign 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751886336 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6p21.2 6 38899891A> G null Q R 3060 3060 missense 0.135 benign 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs373054540 6p21.2 6 38899894T> C null I T 3061 3061 missense 0.046 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs781639025 6p21.2 6 38899896A> C null T P 3062 3062 missense 0.661 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746420749 6p21.2 6 38899900T> C null L S 3063 3063 missense 0.133 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1339146673 6p21.2 6 38906254G> T null R S 3065 3065 missense 0.144 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1463693356 6p21.2 6 38906256C> T null S F 3066 3066 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1355530405 6p21.2 6 38906255T> A null S T 3066 3066 missense 0.99 probably damaging 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768881750 6p21.2 6 38906261A> G null N D 3068 3068 missense 0.304 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768881750 6p21.2 6 38906261A> C null N H 3068 3068 missense 0.802 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1382111352 6p21.2 6 38906262A> G null N S 3068 3068 missense 0.013 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1453396580 6p21.2 6 38906265T> C null V A 3069 3069 missense 0.325 benign 0.28 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1317264025 6p21.2 6 38906267A> G null T A 3070 3070 missense 0.0 benign 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1023145668 6p21.2 6 38906268C> T null T I 3070 3070 missense 0.017 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1212760869 6p21.2 6 38906270A> G null N D 3071 3071 missense 0.423 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1561844607 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38906271A> G null N S 3071 3071 missense 0.036 benign 0.07 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000689115 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs748431291 6p21.2 6 38906280A> G null D G 3074 3074 missense 0.248 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773209277 6p21.2 6 38906282G> A null D N 3075 3075 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372620501 6p21.2 6 38906285T> G null L V 3076 3076 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770791340 6p21.2 6 38906292C> T null A V 3078 3078 missense 0.0 benign 0.74 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1474700081 6p21.2 6 38906295T> C null L S 3079 3079 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1248605868 6p21.2 6 38906298A> G null Y C 3080 3080 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1420664838 6p21.2 6 38906301A> C null K T 3081 3081 missense 0.046 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1430726492 6p21.2 6 38906303G> A null V I 3082 3082 missense 0.009 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561844722 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38906319G> C null G A 3087 3087 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1561844745 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38906325G> C null G A 3089 3089 missense 0.999 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000686816 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1174747269 6p21.2 6 38906328T> G null I S 3090 3090 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759002964 cosmic curated [Cosmic]: NS pubmed:24265154,cosmic_study:526 6p21.2 6 38906334T> C null F S 3092 3092 missense 0.997 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775107491 6p21.2 6 38906338C> G null I M 3093 3093 missense 0.767 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs139533720 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38906336A> G null I V 3093 3093 missense 0.014 benign 0.05 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629305 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1428544397 6p21.2 6 38906342A> G null T A 3095 3095 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1288271307 6p21.2 6 38906343C> T null T I 3095 3095 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767800821 6p21.2 6 38906349G> A null S N 3097 3097 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs750798606 6p21.2 6 38906362T> A null D E 3101 3101 missense 0.995 probably damaging 0.65 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP,gnomAD rs1223799853 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38906363G> T null E * 3102 3102 stop gained 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000703864 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1444848780 6p21.2 6 38906377A> C null E D 3106 3106 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756594059 6p21.2 6 38906378T> C null Y H 3107 3107 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756594059 6p21.2 6 38906378T> A null Y N 3107 3107 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1226688238 6p21.2 6 38906382T> G null L R 3108 3108 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1364832977 6p21.2 6 38906384A> G null N D 3109 3109 missense 0.423 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1243143838 6p21.2 6 38906389C> G null N K 3110 3110 missense 0.021 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs968838351 6p21.2 6 38906392G> C null L F 3111 3111 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs968838351 6p21.2 6 38906392G> T null L F 3111 3111 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1384482098 6p21.2 6 38906402G> A null G R 3115 3115 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1287636094 6p21.2 6 38907957T> A null I N 3117 3117 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1004082639 6p21.2 6 38907962A> G null N D 3119 3119 missense 0.1 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1469844079 6p21.2 6 38907964C> A null N K 3119 3119 missense 0.1 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1409743221 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 6p21.2 6 38907963A> G null N S 3119 3119 missense 0.001 benign 0.02 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs774982758 6p21.2 6 38907974C> T null R * 3123 3123 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146541069 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38907975G> A null R Q 3123 3123 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1161669006 6p21.2 6 38907980G> A null E K 3125 3125 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs760915990 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 6p21.2 6 38907984T> C null M T 3126 3126 missense 0.063 benign 0.06 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs766814851 6p21.2 6 38907987A> G null D G 3127 3127 missense 0.998 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754287316 6p21.2 6 38908001G> C null G R 3132 3132 missense 0.402 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561846864 6p21.2 6 38908002G> T null G V 3132 3132 missense 0.402 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs905054756 6p21.2 6 38908017T> C null M T 3137 3137 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1279614934 6p21.2 6 38908022A> G null R G 3139 3139 missense 0.068 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes rs199746766 6p21.2 6 38908023G> A null R K 3139 3139 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765343481 6p21.2 6 38908025G> A null E K 3140 3140 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1291613319 6p21.2 6 38908029T> A null L Q 3141 3141 missense 0.61 possibly damaging 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs151313083 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38908034C> T null R C 3143 3143 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000795376 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs758647099 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38908035G> A null R H 3143 3143 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1236640276 6p21.2 6 38908038A> C null H P 3144 3144 missense 0.953 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747278340 6p21.2 6 38908041C> T null P L 3145 3145 missense 0.804 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs747278340 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38908041C> G null P R 3145 3145 missense 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000820143 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs989695011 6p21.2 6 38908053A> G null D G 3149 3149 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1182848656 6p21.2 6 38908056A> G null N S 3150 3150 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781103950 6p21.2 6 38908060G> T null L F 3151 3151 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1442918944 6p21.2 6 38908062A> G null Y C 3152 3152 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs748826446 6p21.2 6 38908071T> C null F S 3155 3155 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774931454 6p21.2 6 38908070T> G null F V 3155 3155 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs748826446 6p21.2 6 38908071T> A null F Y 3155 3155 missense 0.99 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1394133909 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38908077C> T null S L 3157 3157 missense 0.133 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768195812 6p21.2 6 38908079A> G null R G 3158 3158 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1329213504 6p21.2 6 38908081A> C null R S 3158 3158 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1402033581 6p21.2 6 38908086G> C null R T 3160 3160 missense 0.135 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773969897 6p21.2 6 38908088A> G null K E 3161 3161 missense 0.133 benign 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761586125 6p21.2 6 38908097C> T null H Y 3164 3164 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs771196109 6p21.2 6 38908101T> C null V A 3165 3165 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1009154926 6p21.2 6 38908100G> A null V I 3165 3165 missense 0.994 probably damaging 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1219859828 6p21.2 6 38908106C> T null L F 3167 3167 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1268755618 6p21.2 6 38908112T> G null F V 3169 3169 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1030384306 6p21.2 6 38909521G> T null G C 3173 3173 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1030384306 6p21.2 6 38909521G> A null G S 3173 3173 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749273003 6p21.2 6 38909522G> T null G V 3173 3173 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768140806 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6p21.2 6 38909533C> T null R C 3177 3177 missense 0.999 probably damaging 0.01 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1446386037 6p21.2 6 38909534G> T null R L 3177 3177 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,gnomAD rs575613410 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38909539C> T null R C 3179 3179 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747689932 6p21.2 6 38909540G> A null R H 3179 3179 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs748002962 6p21.2 6 38909542T> C null S P 3180 3180 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs748002962 6p21.2 6 38909542T> A null S T 3180 3180 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1175338861 6p21.2 6 38909550A> T null K N 3182 3182 missense 0.998 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs776814706 6p21.2 6 38909549A> G null K R 3182 3182 missense 0.996 probably damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759979491 6p21.2 6 38909554C> G null P A 3184 3184 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1192707358 6p21.2 6 38909565A> G null I M 3187 3187 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770326525 6p21.2 6 38909564T> C null I T 3187 3187 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763618026 6p21.2 6 38909569G> A null G S 3189 3189 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1468370619 6p21.2 6 38909572T> C null C R 3190 3190 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1300401377 6p21.2 6 38909576C> T null T I 3191 3191 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1237514888 6p21.2 6 38909575A> C null T P 3191 3191 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751670785 6p21.2 6 38909580G> A null M I 3192 3192 missense 0.005 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1382831334 6p21.2 6 38909579T> C null M T 3192 3192 missense 0.147 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140935840 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38909578A> G null M V 3192 3192 9.98E-4 missense 0.015 benign 0.2 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000476023 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1314182810 6p21.2 6 38909586G> A null W * 3194 3194 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs368597183 6p21.2 6 38909585G> T null W L 3194 3194 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767810261 6p21.2 6 38909591G> A null S N 3196 3196 missense 0.005 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767810261 6p21.2 6 38909591G> C null S T 3196 3196 missense 0.017 benign 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375494581 6p21.2 6 38909593C> T null R C 3197 3197 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs755880157 6p21.2 6 38909594G> A null R H 3197 3197 missense 0.97 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1217315111 6p21.2 6 38909602A> G null R G 3200 3200 missense 0.068 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs202143508 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38909605G> A null E K 3201 3201 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753771941 6p21.2 6 38909611C> G null L V 3203 3203 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1267541568 6p21.2 6 38909617G> A null A T 3205 3205 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1221318001 6p21.2 6 38909623G> A null A T 3207 3207 missense 0.325 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs558361261 6p21.2 6 38909627C> T null S F 3208 3208 2.0E-4 missense 0.931 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1434566606 6p21.2 6 38909626T> C null S P 3208 3208 missense 0.891 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747717704 6p21.2 6 38909632T> A null F I 3210 3210 missense 0.005 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1161031563 6p21.2 6 38909635C> T null L F 3211 3211 missense 0.35 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs959402323 6p21.2 6 38909641G> C null D H 3213 3213 missense 0.426 benign 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs959402323 6p21.2 6 38909641G> A null D N 3213 3213 missense 0.1 benign 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs879105507 6p21.2 6 38909645A> G null Y C 3214 3214 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs757951025 6p21.2 6 38909644T> A null Y N 3214 3214 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145107574 6p21.2 6 38909647A> C null N H 3215 3215 7.99E-4 missense 0.404 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145107574 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38909647A> T null N Y 3215 3215 7.99E-4 missense 0.404 benign 0.02 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000476510 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746712183 6p21.2 6 38909652T> G null I M 3216 3216 missense 0.998 probably damaging 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1446556713 6p21.2 6 38909653G> A null V I 3217 3217 missense 0.267 benign 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs770273303 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.2 6 38909660C> G null S C 3219 3219 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1056630134 6p21.2 6 38909668A> C null I L 3222 3222 missense 0.029 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1056630134 6p21.2 6 38909668A> G null I V 3222 3222 missense 0.005 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1240784248 6p21.2 6 38909672A> G null K R 3223 3223 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1287991273 6p21.2 6 38909674A> G null R G 3224 3224 missense 0.046 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775998449 6p21.2 6 38909675G> T null R I 3224 3224 missense 0.001 benign 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775998449 6p21.2 6 38909675G> A null R K 3224 3224 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138703233 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38909677C> A null Q K 3225 3225 3.99E-4 missense 0.068 benign 0.15 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000550014 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774252886 6p21.2 6 38909684T> C null V A 3227 3227 missense 0.313 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774252886 6p21.2 6 38909684T> G null V G 3227 3227 missense 0.406 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773470484 6p21.2 6 38909692A> T null M L 3230 3230 missense 0.902 possibly damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1241123543 6p21.2 6 38909693T> C null M T 3230 3230 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773470484 6p21.2 6 38909692A> G null M V 3230 3230 missense 0.959 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1482940355 6p21.2 6 38909699T> C null L P 3232 3232 missense 0.843 possibly damaging 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753647378 6p21.2 6 38909712G> A null M I 3236 3236 missense 0.0 benign 0.41 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201157889 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 38909710A> G null M V 3236 3236 missense 0.0 benign 0.51 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs141147863 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38909714T> C null V A 3237 3237 missense 0.994 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000231429 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1351775676 6p21.2 6 38909716T> G null S A 3238 3238 missense 0.99 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs1583326923 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38909723G> A null S N 3240 3240 missense 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000821587 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1285827985 6p21.2 6 38909725T> C null C R 3241 3241 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs146938126 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38909743A> G null R G 3247 3247 3.99E-4 missense 0.133 benign 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000226334 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs746589404 6p21.2 6 38909744G> A null R K 3247 3247 missense 0.133 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs557128576 6p21.2 6 38911472C> T null R C 3249 3249 3.99E-4 missense 0.02 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1386224345 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6p21.2 6 38911473G> A null R H 3249 3249 missense 0.885 possibly damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,dbSNP,gnomAD rs747123680 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38911475C> T null R * 3250 3250 stop gained 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000822721 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370474987 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 38911476G> A null R Q 3250 3250 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1009065595 6p21.2 6 38911485A> G null H R 3253 3253 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759738901 6p21.2 6 38911491C> T null T I 3255 3255 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1178337730 6p21.2 6 38911503A> T null Y F 3259 3259 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs775157431 6p21.2 6 38911502T> C null Y H 3259 3259 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs762896298 6p21.2 6 38911505C> T null L F 3260 3260 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1297335634 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38911514A> G null I V 3263 3263 missense 0.036 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1060501471 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38911520G> T null G C 3265 3265 missense 1.0 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000477101 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561851549 6p21.2 6 38911526A> C null K Q 3267 3267 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1401462491 6p21.2 6 38911530A> G null N S 3268 3268 missense 0.003 benign 0.82 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763966538 6p21.2 6 38911534T> G null I M 3269 3269 missense 0.531 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs137889757 6p21.2 6 38911538G> T null A S 3271 3271 3.99E-4 missense 0.006 benign 0.62 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750095031 6p21.2 6 38911548T> G null V G 3274 3274 missense 0.51 possibly damaging 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767192586 6p21.2 6 38911547G> C null V L 3274 3274 missense 0.001 benign 0.78 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1216583001 6p21.2 6 38911553T> C null F L 3276 3276 missense 0.018 benign 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1325989937 6p21.2 6 38911556A> G null I V 3277 3277 missense 0.976 probably damaging 0.62 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs911854224 6p21.2 6 38911560A> T null N I 3278 3278 missense 0.684 possibly damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs911854224 6p21.2 6 38911560A> G null N S 3278 3278 missense 0.133 benign 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755726931 6p21.2 6 38911565C> G null Q E 3280 3280 missense 0.985 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs180859001 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38911566A> T null Q L 3280 3280 5.99E-4 missense 0.99 probably damaging 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000462741 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs180859001 6p21.2 6 38911566A> C null Q P 3280 3280 5.99E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs753027031 6p21.2 6 38911568G> A null A T 3281 3281 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372500551 6p21.2 6 38911574C> T null R C 3283 3283 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs540958336 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38911575G> A null R H 3283 3283 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1158047737 6p21.2 6 38911579G> C null M I 3284 3284 missense 0.191 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1430406590 6p21.2 6 38911578T> G null M R 3284 3284 missense 0.067 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs745962761 6p21.2 6 38913864T> C null M T 3292 3292 missense 0.974 probably damaging 0.38 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC rs144095274 6p21.2 6 38913867A> C null E A 3293 3293 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC rs144095274 6p21.2 6 38913867A> G null E G 3293 3293 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756254956 6p21.2 6 38913866G> A null E K 3293 3293 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561854607 6p21.2 6 38913877A> C null E D 3296 3296 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768565947 6p21.2 6 38913879C> G null S C 3297 3297 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1195186124 6p21.2 6 38913885C> T null A V 3299 3299 missense 0.665 possibly damaging 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs983067730 6p21.2 6 38913893T> G null S A 3302 3302 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs748040671 6p21.2 6 38913906C> T null A V 3306 3306 missense 0.997 probably damaging 0.46 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1367670687 6p21.2 6 38913926G> T null A S 3313 3313 missense 0.304 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76387239 6p21.2 6 38913932G> T null A S 3315 3315 0.003994 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs76387239 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38913932G> A null A T 3315 3315 0.003994 missense 0.998 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000460004 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772739287 6p21.2 6 38913939T> G null I R 3317 3317 missense 0.405 benign 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,dbSNP,gnomAD rs200884766 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia cosmic_study:375,cosmic_study:419 6p21.2 6 38913950G> A null E K 3321 3321 missense 0.003 benign 0.8 tolerated 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000686713 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1375381076 6p21.2 6 38915207G> A null A T 3324 3324 missense 0.998 probably damaging 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1403488318 6p21.2 6 38915216A> C null T P 3327 3327 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs903310956 6p21.2 6 38915222A> C null S R 3329 3329 missense 0.998 probably damaging 0.3 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs200806673 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 6p21.2 6 38915225G> A null A T 3330 3330 missense 0.023 benign 0.23 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1340360191 6p21.2 6 38915229A> G null Q R 3331 3331 missense 0.003 benign 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747987688 6p21.2 6 38915231G> A null A T 3332 3332 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1223508364 6p21.2 6 38915235C> T null S L 3333 3333 missense 0.226 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1232556125 6p21.2 6 38915244T> A null I N 3336 3336 missense 0.502 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770345794 6p21.2 6 38915250A> G null N S 3338 3338 missense 0.994 probably damaging 0.59 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs776212344 6p21.2 6 38915254A> T null E D 3339 3339 missense 0.013 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1439003830 6p21.2 6 38915273A> G null K E 3346 3346 missense 0.423 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1431126991 6p21.2 6 38915285A> G null I V 3350 3350 missense 0.976 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1410848034 6p21.2 6 38915288G> A null V M 3351 3351 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1472209477 6p21.2 6 38915298T> C null I T 3354 3354 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767941413 6p21.2 6 38915303A> G null S G 3356 3356 missense 0.068 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750830434 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 6p21.2 6 38915305T> G null S R 3356 3356 missense 0.003 benign 0.15 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1281754299 cosmic curated [Cosmic]: endometrium cosmic_study:419 6p21.2 6 38915317A> T null K N 3360 3360 missense 0.379 benign 0.15 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368251682 6p21.2 6 38915318G> A null A T 3361 3361 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370597402 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38915321G> A null E K 3362 3362 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs374651736 6p21.2 6 38915325G> A null S N 3363 3363 missense 0.1 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs755220570 6p21.2 6 38915326C> A null S R 3363 3363 missense 0.179 benign 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1306922073 6p21.2 6 38915329G> C null K N 3364 3364 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1352931271 6p21.2 6 38915330C> T null L F 3365 3365 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779236650 6p21.2 6 38915337C> G null A G 3367 3367 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779236650 6p21.2 6 38915337C> T null A V 3367 3367 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1287947453 6p21.2 6 38915339G> C null A P 3368 3368 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1487289519 6p21.2 6 38915346C> A null P H 3370 3370 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752989536 6p21.2 6 38915351C> G null L V 3372 3372 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,gnomAD rs367980041 6p21.2 6 38915360G> A null A T 3375 3375 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777626502 6p21.2 6 38915369G> T null A S 3378 3378 missense 0.02 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1206394844 6p21.2 6 38917242A> G null I V 3382 3382 missense 0.976 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1395189657 6p21.2 6 38917248C> A null P T 3384 3384 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs561473584 6p21.2 6 38917251A> G null N D 3385 3385 2.0E-4 missense 0.325 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1216460713 6p21.2 6 38917263A> G null T A 3389 3389 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1263730674 6p21.2 6 38917270G> A null R K 3391 3391 missense 0.99 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1236183510 6p21.2 6 38917279C> G null A G 3394 3394 missense 0.437 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1200002060 6p21.2 6 38917278G> A null A T 3394 3394 missense 0.542 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs758710947 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38917284C> T null P S 3396 3396 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs374663858 6p21.2 6 38917290C> A null H N 3398 3398 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1468545995 6p21.2 6 38917291A> G null H R 3398 3398 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1476956874 6p21.2 6 38917293C> A null L I 3399 3399 missense 0.995 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1008507408 6p21.2 6 38917294T> G null L R 3399 3399 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs757037891 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38917301G> A null M I 3401 3401 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751416722 6p21.2 6 38917299A> G null M V 3401 3401 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1478726424 6p21.2 6 38917309T> C null M T 3404 3404 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1014654034 6p21.2 6 38917327T> C null L P 3410 3410 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP rs1180672703 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38917331T> G null F L 3411 3411 missense 0.99 probably damaging 0.02 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000696940 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1467197047 6p21.2 6 38917342T> C null I T 3415 3415 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs577083847 6p21.2 6 38917347C> T null P S 3417 3417 missense 0.005 benign 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes rs532434864 6p21.2 6 38917350G> A null V I 3418 3418 2.0E-4 missense 0.994 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs867281706 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38917359G> A null D N 3421 3421 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1465517548 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38917362C> G null P A 3422 3422 missense 0.999 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1465517548 6p21.2 6 38917362C> T null P S 3422 3422 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs745822331 6p21.2 6 38917378G> A null C Y 3427 3427 missense 0.431 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1024708882 6p21.2 6 38917384C> T null P L 3429 3429 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs62398575 6p21.2 6 38917387C> A null S * 3430 3430 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768405383 6p21.2 6 38917390G> A null W * 3431 3431 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1277813623 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38917389T> G null W G 3431 3431 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1466452723 6p21.2 6 38917925T> G null L V 3437 3437 missense 0.995 probably damaging 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1380746101 6p21.2 6 38917930G> T null M I 3438 3438 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1380746101 6p21.2 6 38917930G> C null M I 3438 3438 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs779006612 6p21.2 6 38917928A> T null M L 3438 3438 missense 0.902 possibly damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770469586 6p21.2 6 38917929T> C null M T 3438 3438 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1402081920 6p21.2 6 38917935C> T null A V 3440 3440 missense 0.189 benign 0.28 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1178391415 6p21.2 6 38917941G> T null G V 3442 3442 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP rs1437893220 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38917951G> A null W * 3445 3445 stop gained 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629371 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763045480 6p21.2 6 38917953G> A null S N 3446 3446 missense 0.007 benign 0.93 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764099125 6p21.2 6 38917955C> T null L F 3447 3447 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1220123284 6p21.2 6 38917958C> T null Q * 3448 3448 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1375287314 6p21.2 6 38917975C> A null D E 3453 3453 missense 0.995 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,dbSNP,gnomAD rs759714537 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38917980T> C null I T 3455 3455 missense 0.995 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000687787 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs774568425 6p21.2 6 38917979A> G null I V 3455 3455 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767288158 6p21.2 6 38917989A> C null E A 3458 3458 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs866303649 6p21.2 6 38917988G> A null E K 3458 3458 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200376058 6p21.2 6 38917994G> A null V I 3460 3460 2.0E-4 missense 0.009 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200376058 6p21.2 6 38917994G> C null V L 3460 3460 2.0E-4 missense 0.036 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1035990812 6p21.2 6 38918006C> G null Q E 3464 3464 missense 0.229 benign 0.64 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778289417 6p21.2 6 38918016T> G null F C 3467 3467 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1456380114 6p21.2 6 38918018A> C null N H 3468 3468 missense 0.404 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1178015604 6p21.2 6 38918019A> T null N I 3468 3468 missense 0.041 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1352319635 6p21.2 6 38918021A> G null M V 3469 3469 missense 0.959 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs772344943 6p21.2 6 38918025A> G null D G 3470 3470 missense 0.248 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs897536036 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38918024G> A null D N 3470 3470 missense 0.248 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs374185872 6p21.2 6 38918029T> G null D E 3471 3471 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1241791998 6p21.2 6 38918027G> A null D N 3471 3471 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs550049898 6p21.2 6 38918028A> T null D V 3471 3471 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1396374307 6p21.2 6 38918030T> A null Y N 3472 3472 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs182442615 6p21.2 6 38918034C> T null T I 3473 3473 5.99E-4 missense 0.33 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs182442615 6p21.2 6 38918034C> G null T S 3473 3473 5.99E-4 missense 0.0 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,dbSNP,gnomAD rs538936217 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38918037T> C null F S 3474 3474 3.99E-4 missense 0.176 benign 0.04 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000525926 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1397572434 6p21.2 6 38918041A> C null E D 3475 3475 missense 0.013 benign 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1420087530 6p21.2 6 38918039G> A null E K 3475 3475 missense 0.304 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770309916 6p21.2 6 38918042A> G null S G 3476 3476 missense 0.1 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1417538042 6p21.2 6 38918043G> A null S N 3476 3476 missense 0.001 benign 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs776011753 6p21.2 6 38918049A> G null K R 3478 3478 missense 0.996 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs377194021 6p21.2 6 38918053A> T null K N 3479 3479 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs199540094 6p21.2 6 38918065T> A null N K 3483 3483 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1023777490 6p21.2 6 38918063A> T null N Y 3483 3483 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1317302890 6p21.2 6 38918088C> T null T I 3491 3491 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1199366350 6p21.2 6 38918090C> T null L F 3492 3492 missense 0.831 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs149851945 6p21.2 6 38918093G> T null A S 3493 3493 missense 0.997 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773454848 6p21.2 6 38918105T> G null F V 3497 3497 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1185101070 6p21.2 6 38918109A> G null Y C 3498 3498 missense 0.812 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs773582929 6p21.2 6 38918112G> C null G A 3499 3499 missense 0.578 possibly damaging 0.27 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1162850592 6p21.2 6 38918126G> A null V M 3504 3504 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1013545602 6p21.2 6 38921370C> A null A D 3509 3509 missense 0.432 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1013545602 6p21.2 6 38921370C> T null A V 3509 3509 missense 0.007 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762500757 6p21.2 6 38921374C> A null N K 3510 3510 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145843224 6p21.2 6 38921373A> G null N S 3510 3510 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1297795503 6p21.2 6 38921378G> A null A T 3512 3512 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751256547 6p21.2 6 38921391G> A null G D 3516 3516 missense 1.0 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs751256547 6p21.2 6 38921391G> T null G V 3516 3516 missense 1.0 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368736066 6p21.2 6 38921393C> G null R G 3517 3517 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779240075 6p21.2 6 38921394G> T null R L 3517 3517 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779240075 6p21.2 6 38921394G> A null R Q 3517 3517 missense 0.996 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs368736066 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38921393C> T null R W 3517 3517 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000693836 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs908242147 6p21.2 6 38921412C> A null A D 3523 3523 missense 0.179 benign 0.59 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs199853566 6p21.2 6 38921420G> A null G R 3526 3526 2.0E-4 missense 0.662 possibly damaging 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs529471563 6p21.2 6 38921424A> G null K R 3527 3527 2.0E-4 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1186726315 6p21.2 6 38921426G> A null A T 3528 3528 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769648533 6p21.2 6 38921429C> T null Q * 3529 3529 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769648533 6p21.2 6 38921429C> A null Q K 3529 3529 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1388863822 6p21.2 6 38921442A> T null D V 3533 3533 missense 0.746 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774055948 6p21.2 6 38921447A> C null K Q 3535 3535 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs904924176 6p21.2 6 38921453G> A null A T 3537 3537 missense 0.361 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1001723802 6p21.2 6 38921469T> G null V G 3542 3542 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1316338331 6p21.2 6 38921468G> A null V I 3542 3542 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1371598194 6p21.2 6 38921475C> T null A V 3544 3544 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1229103500 6p21.2 6 38921479A> C null K N 3545 3545 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142907521 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38921481T> C null F S 3546 3546 3.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000475787 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1306803281 6p21.2 6 38921480T> G null F V 3546 3546 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs147713611 6p21.2 6 38921484A> G null D G 3547 3547 missense 0.733 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs750113660 6p21.2 6 38921486G> A null A T 3548 3548 missense 0.003 benign 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1414445319 6p21.2 6 38921489G> A null A T 3549 3549 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1170420547 6p21.2 6 38921493T> A null M K 3550 3550 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755240745 6p21.2 6 38921492A> G null M V 3550 3550 missense 0.959 probably damaging 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765638035 6p21.2 6 38921498G> C null E Q 3552 3552 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs867676495 6p21.2 6 38923058G> A null D N 3555 3555 missense 0.506 possibly damaging 0.43 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs79869766 6p21.2 6 38923063G> T null L F 3556 3556 missense 0.872 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs746067892 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38923067A> G null N D 3558 3558 missense 0.005 benign 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000793531 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1160474440 6p21.2 6 38923069T> A null N K 3558 3558 missense 0.108 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1308574895 6p21.2 6 38923068A> G null N S 3558 3558 missense 0.005 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770691922 6p21.2 6 38923072C> G null D E 3559 3559 missense 0.472 possibly damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs756412387 6p21.2 6 38923071A> T null D V 3559 3559 missense 0.872 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141263020 6p21.2 6 38923073G> T null A S 3560 3560 2.0E-4 missense 0.101 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141263020 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38923073G> A null A T 3560 3560 2.0E-4 missense 0.558 possibly damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000231381 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561866967 6p21.2 6 38923076G> A null D N 3561 3561 missense 0.286 benign 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs373914023 6p21.2 6 38923080C> A null T K 3562 3562 5.99E-4 missense 0.0 benign 0.59 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs373914023 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38923080C> T null T M 3562 3562 5.99E-4 missense 0.0 benign 0.26 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000529121 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561867010 6p21.2 6 38923082T> C null C R 3563 3563 missense 0.784 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748121138 6p21.2 6 38923085C> G null R G 3564 3564 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs772835642 6p21.2 6 38923086G> C null R P 3564 3564 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs772835642 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38923086G> A null R Q 3564 3564 missense 0.996 probably damaging 0.34 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748121138 6p21.2 6 38923085C> T null R W 3564 3564 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1420392701 6p21.2 6 38923094A> G null M V 3567 3567 missense 0.001 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554136601 6p21.2 6 38923097C> T null Q * 3568 3568 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1207748979 6p21.2 6 38923099G> C null Q H 3568 3568 missense 0.784 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760220015 6p21.2 6 38923098A> G null Q R 3568 3568 missense 0.011 benign 0.25 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1172358712 6p21.2 6 38923100G> T null A S 3569 3569 missense 0.243 benign 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs776294190 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38923103G> A null A T 3570 3570 missense 0.558 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763251337 6p21.2 6 38923110C> T null T I 3572 3572 missense 0.041 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751941460 6p21.2 6 38923119A> C null D A 3575 3575 missense 0.423 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751941460 6p21.2 6 38923119A> G null D G 3575 3575 missense 0.733 possibly damaging 0.46 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764451890 6p21.2 6 38923118G> A null D N 3575 3575 missense 0.877 possibly damaging 0.64 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1418024215 6p21.2 6 38923128G> A null S N 3578 3578 missense 0.684 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1215830936 6p21.2 6 38923131G> A null G E 3579 3579 missense 0.938 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1362966247 6p21.2 6 38923137A> G null K R 3581 3581 missense 0.996 probably damaging 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1235448262 6p21.2 6 38923143G> A null R Q 3583 3583 missense 0.452 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs762444244 6p21.2 6 38923142C> T null R W 3583 3583 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1282978959 6p21.2 6 38923149C> T null T I 3585 3585 missense 0.819 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs201039935 6p21.2 6 38923153G> C null Q H 3586 3586 2.0E-4 missense 0.627 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1434503745 6p21.2 6 38923152A> G null Q R 3586 3586 missense 0.135 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs373965207 6p21.2 6 38923155A> G null Q R 3587 3587 missense 0.431 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs868714336 6p21.2 6 38923158G> A null S N 3588 3588 missense 0.41 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs756182046 6p21.2 6 38923161A> G null K R 3589 3589 missense 0.005 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs147574550 6p21.2 6 38923168C> G null F L 3591 3591 missense 0.076 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754128211 6p21.2 6 38923175C> G null Q E 3594 3594 missense 0.208 benign 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs893504700 6p21.2 6 38923181A> C null N H 3596 3596 missense 0.684 possibly damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs138878545 6p21.2 6 38923182A> G null N S 3596 3596 3.99E-4 missense 0.007 benign 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760779448 6p21.2 6 38923992C> T null L F 3598 3598 missense 0.143 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1184427486 6p21.2 6 38923996T> C null V A 3599 3599 missense 0.001 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs150171166 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38923995G> A null V I 3599 3599 missense 0.108 benign 0.05 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000461733 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs150171166 6p21.2 6 38923995G> T null V L 3599 3599 missense 0.108 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs906560178 6p21.2 6 38923998G> A null G S 3600 3600 missense 0.173 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs376013784 6p21.2 6 38924001G> A null D N 3601 3601 missense 0.108 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs376013784 6p21.2 6 38924001G> T null D Y 3601 3601 missense 0.632 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752577718 6p21.2 6 38924005T> C null I T 3602 3602 missense 0.046 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1280547354 6p21.2 6 38924010C> A null L M 3604 3604 missense 0.91 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs758157645 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38924017C> T null T M 3606 3606 missense 0.847 possibly damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000800223 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs267601019 6p21.2 6 38924024C> G null F L 3608 3608 missense 0.267 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1031105454 6p21.2 6 38924028T> G null S A 3610 3610 missense 0.136 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1350933024 6p21.2 6 38924037G> A null G S 3613 3613 missense 0.909 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368846740 6p21.2 6 38924041C> T null P L 3614 3614 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1436051485 6p21.2 6 38924047A> G null N S 3616 3616 missense 0.325 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs149318458 6p21.2 6 38924050A> T null Q L 3617 3617 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs149318458 6p21.2 6 38924050A> G null Q R 3617 3617 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs535271872 6p21.2 6 38924055T> A null F I 3619 3619 2.0E-4 missense 0.406 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775040873 6p21.2 6 38924061A> G null N D 3621 3621 missense 0.147 benign 0.41 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1454483386 6p21.2 6 38924064T> C null Y H 3622 3622 missense 0.404 benign 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1282384794 6p21.2 6 38924073A> C null K Q 3625 3625 missense 0.705 possibly damaging 0.84 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs748500871 6p21.2 6 38924074A> G null K R 3625 3625 missense 0.423 benign 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1416729937 6p21.2 6 38924077A> G null D G 3626 3626 missense 0.248 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs772338545 6p21.2 6 38924082T> C null W R 3628 3628 missense 0.576 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs372287049 6p21.2 6 38924092A> T null E V 3631 3631 missense 0.766 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs905548870 6p21.2 6 38924096G> T null L F 3632 3632 missense 0.203 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773701733 6p21.2 6 38924098G> A null R K 3633 3633 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs866855066 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38924104G> A null R Q 3635 3635 missense 0.449 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149334389 6p21.2 6 38924103C> T null R W 3635 3635 0.001198 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs986045382 6p21.2 6 38924113C> T null P L 3638 3638 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs953211968 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38924112C> T null P S 3638 3638 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1446285473 6p21.2 6 38924133C> T null L F 3645 3645 missense 0.502 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368315323 6p21.2 6 38924134T> G null L R 3645 3645 missense 0.802 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759798823 6p21.2 6 38924137T> C null I T 3646 3646 missense 0.431 benign 0.52 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs201019340 6p21.2 6 38924143T> G null M R 3648 3648 missense 0.533 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs201019340 6p21.2 6 38924143T> C null M T 3648 3648 missense 0.332 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs754232500 6p21.2 6 38924142A> G null M V 3648 3648 missense 0.191 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1195232317 6p21.2 6 38924148G> A null V M 3650 3650 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763796523 6p21.2 6 38924151G> C null D H 3651 3651 missense 0.931 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751491879 6p21.2 6 38924154C> G null P A 3652 3652 missense 0.145 benign 0.99 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs780652669 6p21.2 6 38924160A> G null T A 3654 3654 missense 0.0 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs899334468 6p21.2 6 38924161C> T null T I 3654 3654 missense 0.001 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1459169930 6p21.2 6 38926056T> C null I T 3655 3655 missense 0.995 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1192434147 6p21.2 6 38926066G> A null W * 3658 3658 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1396137972 6p21.2 6 38926067G> A null G R 3659 3659 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1425448313 6p21.2 6 38926070C> A null L I 3660 3660 missense 0.995 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1264991870 6p21.2 6 38926071T> C null L P 3660 3660 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,NCI-TCGA,TOPMed,gnomAD rs371685174 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38926077G> A null G E 3662 3662 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767398207 6p21.2 6 38926080T> C null L S 3663 3663 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1320411210 6p21.2 6 38926085G> A null G R 3665 3665 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs201841900 6p21.2 6 38926090T> A null D E 3666 3666 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755585924 6p21.2 6 38926089A> T null D V 3666 3666 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754636870 6p21.2 6 38926091G> A null D N 3667 3667 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1348244920 6p21.2 6 38926101T> G null I S 3670 3670 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778251304 6p21.2 6 38926104A> G null Q R 3671 3671 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes rs185533480 6p21.2 6 38926106A> C null N H 3672 3672 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747335603 6p21.2 6 38926108T> A null N K 3672 3672 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1205184659 6p21.2 6 38926116T> C null I T 3675 3675 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs965246460 6p21.2 6 38926115A> G null I V 3675 3675 missense 0.976 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771444510 6p21.2 6 38926119T> C null V A 3676 3676 missense 0.994 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1435027023 6p21.2 6 38926121A> G null T A 3677 3677 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs1035761681 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38926127G> A null A T 3679 3679 missense 0.998 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000693466 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1323693339 6p21.2 6 38926130A> G null T A 3680 3680 missense 0.994 probably damaging 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746378835 6p21.2 6 38926137A> T null Y F 3682 3682 missense 0.994 probably damaging 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs958798935 6p21.2 6 38926140C> T null P L 3683 3683 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1180142033 6p21.2 6 38926142C> T null L F 3684 3684 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775487246 6p21.2 6 38926148A> G null I V 3686 3686 missense 0.976 probably damaging 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1397441519 6p21.2 6 38926152A> T null D V 3687 3687 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1169537056 6p21.2 6 38926155C> G null P R 3688 3688 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs374784188 6p21.2 6 38926163C> G null Q E 3691 3691 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs765827233 6p21.2 6 38926166G> A null G S 3692 3692 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753523056 6p21.2 6 38926177G> C null W C 3695 3695 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs530591856 6p21.2 6 38926182A> C null K T 3697 3697 2.0E-4 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs113496494 6p21.2 6 38926198A> T null E D 3702 3702 missense 0.005 benign 0.53 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1331959799 6p21.2 6 38926208C> A null Q K 3706 3706 missense 0.985 probably damaging 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1186345802 6p21.2 6 38929512T> C null V A 3707 3707 missense 0.223 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs538759323 6p21.2 6 38929511G> T null V L 3707 3707 2.0E-4 missense 0.084 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs538759323 6p21.2 6 38929511G> A null V M 3707 3707 2.0E-4 missense 0.682 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs776651442 6p21.2 6 38929515C> T null T I 3708 3708 missense 0.628 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs758912484 6p21.2 6 38929517T> A null S T 3709 3709 missense 0.007 benign 0.37 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs552766697 6p21.2 6 38929525C> A null N K 3711 3711 2.0E-4 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1380620544 6p21.2 6 38929529A> G null K E 3713 3713 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs144239746 6p21.2 6 38929530A> C null K T 3713 3713 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs758179326 NCI-TCGA Cosmic [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22197931,cosmic_study:389 6p21.2 6 38929538C> T null R C 3716 3716 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,gnomAD rs534987499 [NCI-TCGA]: Variant assessed as Somatic; impact. 6p21.2 6 38929539G> A null R H 3716 3716 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs534987499 6p21.2 6 38929539G> T null R L 3716 3716 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs534987499 6p21.2 6 38929539G> C null R P 3716 3716 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs555291563 6p21.2 6 38929541A> G null T A 3717 3717 2.0E-4 missense 0.069 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1259894906 6p21.2 6 38929542C> T null T I 3717 3717 missense 0.156 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1186041071 6p21.2 6 38929545A> C null H P 3718 3718 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780369808 6p21.2 6 38929544C> T null H Y 3718 3718 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs755050080 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38929553G> A null D N 3721 3721 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1378608780 6p21.2 6 38929557G> A null S N 3722 3722 missense 0.228 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779022579 6p21.2 6 38929558C> G null S R 3722 3722 missense 0.502 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1173809215 6p21.2 6 38929560T> C null L P 3723 3723 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs373404358 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38929568G> C null G R 3726 3726 missense 1.0 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000818615 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773513338 6p21.2 6 38929571C> T null R * 3727 3727 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1363255994 6p21.2 6 38929572G> A null R Q 3727 3727 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138016358 6p21.2 6 38929574C> G null P A 3728 3728 3.99E-4 missense 0.221 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138016358 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38929574C> T null P S 3728 3728 3.99E-4 missense 0.06 benign 0.05 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000459851 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1489945026 6p21.2 6 38929583A> G null I V 3731 3731 missense 0.095 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs762661753 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38929593T> C null I T 3734 3734 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs576898999 6p21.2 6 38929592A> G null I V 3734 3734 2.0E-4 missense 0.976 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs77540135 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38929596A> G null H R 3735 3735 0.01298 missense 0.0 benign 0.17 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000462251 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1215135195 6p21.2 6 38929595C> T null H Y 3735 3735 missense 0.029 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756370205 6p21.2 6 38929601G> A null E K 3737 3737 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1251073756 6p21.2 6 38929613G> C null A P 3741 3741 missense 0.802 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1271025231 6p21.2 6 38929620A> C null D A 3743 3743 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs866943317 6p21.2 6 38929619G> A null D N 3743 3743 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1213044875 6p21.2 6 38929622A> G null N D 3744 3744 missense 0.51 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1426793985 6p21.2 6 38929623A> C null N T 3744 3744 missense 0.665 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755529710 6p21.2 6 38929634A> G null K E 3748 3748 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs778934662 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38929636G> T null K N 3748 3748 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1324413664 6p21.2 6 38929643A> T null I F 3751 3751 missense 0.003 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs748188784 6p21.2 6 38929649T> A null S T 3753 3753 missense 0.014 benign 0.38 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777797977 6p21.2 6 38929656C> G null T S 3755 3755 missense 0.136 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1223496787 6p21.2 6 38929658A> G null T A 3756 3756 missense 0.0 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1307978704 6p21.2 6 38929659C> T null T I 3756 3756 missense 0.001 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1388874669 6p21.2 6 38931817G> T null V F 3761 3761 missense 0.718 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs369468382 6p21.2 6 38931821G> A null G D 3762 3762 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs745615652 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38931820G> A null G S 3762 3762 missense 1.0 probably damaging 0.05 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629512 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1170907354 6p21.2 6 38931825T> A null D E 3763 3763 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1411395627 6p21.2 6 38931826A> T null K * 3764 3764 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs780074019 6p21.2 6 38931829G> T null E * 3765 3765 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1409707763 6p21.2 6 38931839T> A null I N 3768 3768 missense 0.603 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749308476 6p21.2 6 38931842T> A null M K 3769 3769 missense 0.758 possibly damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768042230 6p21.2 6 38931847A> G null T A 3771 3771 missense 0.026 benign 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1413230905 6p21.2 6 38931848C> A null T K 3771 3771 missense 0.003 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773961136 6p21.2 6 38931862A> G null I V 3776 3776 missense 0.976 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs979808022 6p21.2 6 38931868A> G null T A 3778 3778 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373025624 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 6p21.2 6 38931869C> T null T M 3778 3778 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs202245852 6p21.2 6 38931872A> G null K R 3779 3779 2.0E-4 missense 0.996 probably damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765589828 6p21.2 6 38931878C> T null P L 3781 3781 missense 0.502 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765589828 6p21.2 6 38931878C> G null P R 3781 3781 missense 0.682 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150057448 6p21.2 6 38931881A> C null N T 3782 3782 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs147729642 6p21.2 6 38931883C> G null P A 3783 3783 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs147729642 6p21.2 6 38931883C> T null P S 3783 3783 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1256381051 6p21.2 6 38931886G> A null A T 3784 3784 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764054405 6p21.2 6 38931887C> T null A V 3784 3784 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1189052584 6p21.2 6 38931892A> G null T A 3786 3786 missense 0.013 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1284682911 6p21.2 6 38931898G> C null E Q 3788 3788 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs145133976 6p21.2 6 38931903T> G null I M 3789 3789 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1433263323 6p21.2 6 38931907G> A null A T 3791 3791 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750681444 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 6p21.2 6 38931908C> T null A V 3791 3791 missense 0.997 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs780056047 6p21.2 6 38931910A> G null K E 3792 3792 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs370303492 6p21.2 6 38931914C> T null T M 3793 3793 missense 0.056 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1324608029 6p21.2 6 38931916T> A null S T 3794 3794 missense 0.99 probably damaging 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778747433 6p21.2 6 38931931A> G null T A 3799 3799 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs747646794 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38931932C> T null T I 3799 3799 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs371600150 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38931934G> A null V I 3800 3800 missense 0.994 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000460761 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs772782911 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38931937A> G null T A 3801 3801 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746729551 6p21.2 6 38931938C> A null T K 3801 3801 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746729551 6p21.2 6 38931938C> G null T R 3801 3801 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1446924185 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38931942G> A null M I 3802 3802 missense 0.042 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs940339061 6p21.2 6 38931940A> G null M V 3802 3802 missense 0.001 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1407617826 6p21.2 6 38931946G> C null G R 3804 3804 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs775878240 6p21.2 6 38931949C> T null L F 3805 3805 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs374506197 6p21.2 6 38931953A> G null E G 3806 3806 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs368737192 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38931955A> G null N D 3807 3807 missense 0.996 probably damaging 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000818044 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764618646 6p21.2 6 38931959A> C null Q P 3808 3808 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs909094330 6p21.2 6 38931965T> G null L R 3810 3810 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1378403556 6p21.2 6 38931968G> A null R K 3811 3811 missense 0.227 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs771033562 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38931966_38931968de l null R null 3812 3812 inframe deletion 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000555078 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1163808996 6p21.2 6 38931971G> T null R I 3812 3812 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1462172897 6p21.2 6 38931977T> C null I T 3814 3814 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs371025541 6p21.2 6 38931980T> C null L P 3815 3815 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761888641 6p21.2 6 38931979C> G null L V 3815 3815 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1338828163 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38935592G> A null E K 3820 3820 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs185283741 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38935602C> T null A V 3823 3823 missense 0.1 benign 0.11 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000690315 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765005496 6p21.2 6 38935605A> G null E G 3824 3824 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752663686 6p21.2 6 38935622G> A null E K 3830 3830 missense 0.996 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1483534438 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 6p21.2 6 38935629T> C null V A 3832 3832 missense 0.994 probably damaging 0.01 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1041536409 6p21.2 6 38935628G> A null V I 3832 3832 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746482096 6p21.2 6 38935631A> G null T A 3833 3833 missense 0.994 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1455545677 6p21.2 6 38935635T> G null F C 3834 3834 missense 0.774 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780763231 6p21.2 6 38935638A> T null N I 3835 3835 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372052671 6p21.2 6 38935639T> A null N K 3835 3835 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs779195376 6p21.2 6 38935644G> A null R Q 3837 3837 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs769053473 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38935643C> T null R W 3837 3837 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs759193789 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38935653A> G null K R 3840 3840 missense 0.996 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000533390 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs773882347 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 6p21.2 6 38935655G> T null E * 3841 3841 missense 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1482374807 6p21.2 6 38935657A> C null E D 3841 3841 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,dbSNP,gnomAD rs760781678 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38935665A> T null D V 3844 3844 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000475459 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs545841994 6p21.2 6 38935686G> A null S N 3851 3851 missense 0.912 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs545841994 6p21.2 6 38935686G> C null S T 3851 3851 missense 0.269 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs375961326 6p21.2 6 38935688G> A null A T 3852 3852 missense 0.003 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1255686811 6p21.2 6 38935692C> T null T I 3853 3853 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1207477459 6p21.2 6 38935691A> C null T P 3853 3853 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1485362599 6p21.2 6 38935694A> C null K Q 3854 3854 missense 0.012 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs749861252 6p21.2 6 38937977C> T null S L 3856 3856 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs977966788 6p21.2 6 38937976T> A null S T 3856 3856 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs143043316 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38937980T> G null L W 3857 3857 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000693911 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1437696608 6p21.2 6 38937986A> G null D G 3859 3859 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149356438 6p21.2 6 38937990C> G null D E 3860 3860 0.001398 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1219964235 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38937991G> A null E K 3861 3861 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747492941 6p21.2 6 38937994T> A null S T 3862 3862 missense 0.99 probably damaging 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1017664963 6p21.2 6 38938000A> G null I V 3864 3864 missense 0.976 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs752381446 6p21.2 6 38938005_38938006insAGATGACGAATCTCTCATTGG T null V R 3866 3866 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs769929539 cosmic curated [Cosmic]: breast, [Cosmic]: skin, [ClinVar]: Primary ciliary dyskinesia, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:22842228,cosmic_study:414,cosmic_study:511 6p21.2 6 38938012C> T null R * 3868 3868 missense 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000685592 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1250983135 NCI-TCGA Cosmic [Cosmic]: endometrium, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22842228,cosmic_study:419,cosmic_study:511 6p21.2 6 38938013G> A null R Q 3868 3868 missense 0.105 benign 0.7 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1191358823 6p21.2 6 38938019C> T null T I 3870 3870 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs900335621 6p21.2 6 38938018A> T null T S 3870 3870 missense 0.994 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1388825549 6p21.2 6 38938022A> G null K R 3871 3871 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs749577164 6p21.2 6 38938024C> A null Q K 3872 3872 missense 0.046 benign 0.9 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768419092 6p21.2 6 38938028C> T null T I 3873 3873 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1449564807 6p21.2 6 38938034C> T null A V 3875 3875 missense 0.267 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774173621 6p21.2 6 38938038G> C null E D 3876 3876 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774173621 6p21.2 6 38938038G> T null E D 3876 3876 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1459344355 6p21.2 6 38938055A> T null H L 3882 3882 missense 0.921 probably damaging 0.3 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767309755 6p21.2 6 38938058T> G null V G 3883 3883 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs773218875 6p21.2 6 38938061C> T null A V 3884 3884 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs760040194 6p21.2 6 38938063G> A null A T 3885 3885 missense 0.366 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1437651722 6p21.2 6 38938064C> T null A V 3885 3885 missense 0.441 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1227842963 6p21.2 6 38938069A> C null T P 3887 3887 missense 0.661 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754724947 6p21.2 6 38938072G> A null E K 3888 3888 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1030570618 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38938087G> A null A T 3893 3893 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201922165 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38938088C> T null A V 3893 3893 2.0E-4 missense 0.0 benign 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1320838767 6p21.2 6 38938097A> C null E A 3896 3896 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781492856 6p21.2 6 38938102T> A null F I 3898 3898 missense 0.29 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1248071042 6p21.2 6 38938104C> G null F L 3898 3898 missense 0.161 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1180817252 6p21.2 6 38938106G> T null R L 3899 3899 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1180817252 6p21.2 6 38938106G> A null R Q 3899 3899 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs138030174 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38938105C> T null R W 3899 3899 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000543579 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs749482996 6p21.2 6 38938112C> G null A G 3901 3901 missense 0.458 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs560568324 6p21.2 6 38938111G> T null A S 3901 3901 7.99E-4 missense 0.612 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs560568324 6p21.2 6 38938111G> A null A T 3901 3901 7.99E-4 missense 0.318 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs749482996 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38938112C> T null A V 3901 3901 missense 0.013 benign 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000703085 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1413737705 6p21.2 6 38938114G> A null A T 3902 3902 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1167415185 6p21.2 6 38938120C> T null R C 3904 3904 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1167415185 6p21.2 6 38938120C> G null R G 3904 3904 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1352970938 6p21.2 6 38938121G> A null R H 3904 3904 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561888205 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38938123G> A null G R 3905 3905 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747884039 6p21.2 6 38938126A> G null S G 3906 3906 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1050528996 6p21.2 6 38938127G> A null S N 3906 3906 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771909750 6p21.2 6 38938128C> A null S R 3906 3906 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773021947 6p21.2 6 38938129A> G null I V 3907 3907 missense 0.976 probably damaging 0.28 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373142030 6p21.2 6 38938136A> G null Y C 3909 3909 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373142030 6p21.2 6 38938136A> T null Y F 3909 3909 3.99E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375158290 6p21.2 6 38938139T> G null F C 3910 3910 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs375158290 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38938139T> C null F S 3910 3910 missense 0.997 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629515 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375158290 6p21.2 6 38938139T> A null F Y 3910 3910 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757496707 6p21.2 6 38938141C> G null L V 3911 3911 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767990512 6p21.2 6 38938145T> G null I S 3912 3912 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1250747954 6p21.2 6 38938144A> G null I V 3912 3912 missense 0.976 probably damaging 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs530683692 6p21.2 6 38938155G> A null M I 3915 3915 2.0E-4 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs138774499 6p21.2 6 38938159A> G null M V 3917 3917 missense 0.959 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs780572756 6p21.2 6 38938163T> C null V A 3918 3918 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144714552 6p21.2 6 38938166A> G null N S 3919 3919 7.99E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1184825620 6p21.2 6 38938168A> T null I F 3920 3920 missense 0.558 possibly damaging 0.2 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1184825620 6p21.2 6 38938168A> G null I V 3920 3920 missense 0.007 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755064460 6p21.2 6 38938172T> C null M T 3921 3921 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1237393323 6p21.2 6 38938171A> G null M V 3921 3921 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs535938657 6p21.2 6 38938174T> C null Y H 3922 3922 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61757218 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38938181C> T null T M 3924 3924 0.004193 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000474097 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148084212 6p21.2 6 38938186T> A null L M 3926 3926 5.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1307752575 6p21.2 6 38938199T> G null L W 3930 3930 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1333657754 6p21.2 6 38938205T> C null L S 3932 3932 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746887163 6p21.2 6 38938213C> T null Q * 3935 3935 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1448578145 6p21.2 6 38938214A> G null Q R 3935 3935 missense 0.99 probably damaging 0.47 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770949705 6p21.2 6 38938219A> C null M L 3937 3937 missense 0.902 possibly damaging 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1362703002 6p21.2 6 38938223C> T null A V 3938 3938 missense 0.919 probably damaging 0.24 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs182335901 6p21.2 6 38938800C> T null S F 3940 3940 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs752843257 6p21.2 6 38938799T> C null S P 3940 3940 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs182335901 6p21.2 6 38938800C> A null S Y 3940 3940 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1184609993 6p21.2 6 38938803A> G null E G 3941 3941 missense 0.956 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1266746705 6p21.2 6 38938807G> T null K N 3942 3942 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs921967632 6p21.2 6 38938808T> C null S P 3943 3943 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746765756 6p21.2 6 38938815T> C null L P 3945 3945 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746765756 6p21.2 6 38938815T> G null L R 3945 3945 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP rs142032754 6p21.2 6 38938818C> T null P L 3946 3946 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs147313291 6p21.2 6 38938821A> C null Q P 3947 3947 missense 0.635 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs140937135 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38938832A> G null T A 3951 3951 missense 0.001 benign 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000697534 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762402382 6p21.2 6 38938836A> G null N S 3952 3952 missense 0.994 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs377043320 6p21.2 6 38938846G> C null E D 3955 3955 missense 0.021 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs377043320 6p21.2 6 38938846G> T null E D 3955 3955 missense 0.021 benign 0.29 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773889028 6p21.2 6 38938844G> A null E K 3955 3955 missense 0.439 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs766799539 6p21.2 6 38938847T> G null Y D 3956 3956 missense 0.606 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs953615182 6p21.2 6 38938854C> T null T I 3958 3958 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754334951 6p21.2 6 38938858T> G null Y * 3959 3959 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1322422411 6p21.2 6 38938856T> G null Y D 3959 3959 missense 0.781 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs940769485 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 6p21.2 6 38938859G> A null E K 3960 3960 missense 0.021 benign 0.04 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1327868989 6p21.2 6 38938862G> A null V I 3961 3961 missense 0.881 possibly damaging 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs545514096 6p21.2 6 38938868A> G null T A 3963 3963 2.0E-4 missense 0.003 benign 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1318824191 6p21.2 6 38938880A> G null R G 3967 3967 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs533107744 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38938883G> A null G S 3968 3968 2.0E-4 missense 1.0 probably damaging 0.11 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000558247 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs267601020 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38938892G> A null E K 3971 3971 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs781191185 6p21.2 6 38938897C> G null N K 3972 3972 missense 0.423 benign 0.84 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1472969692 6p21.2 6 38938901A> C null K Q 3974 3974 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs745776950 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38938902A> G null K R 3974 3974 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1365498196 6p21.2 6 38938908T> A null L Q 3976 3976 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs376317347 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38938924G> A null M I 3981 3981 missense 0.019 benign 0.02 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000700854 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs576243565 6p21.2 6 38938932A> T null K M 3984 3984 7.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561889695 6p21.2 6 38938936T> G null I M 3985 3985 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1305810294 6p21.2 6 38938934A> G null I V 3985 3985 missense 0.976 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1265988328 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 38938950G> A null G E 3990 3990 missense 0.989 probably damaging 0.28 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747859469 6p21.2 6 38938949G> A null G R 3990 3990 missense 0.992 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs145485818 6p21.2 6 38938953C> T null T I 3991 3991 missense 0.707 possibly damaging 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1361689900 6p21.2 6 38938961C> T null H Y 3994 3994 missense 0.945 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1295423475 6p21.2 6 38938968A> C null E A 3996 3996 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1407334112 6p21.2 6 38938974A> C null Q P 3998 3998 missense 0.635 possibly damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1266467842 6p21.2 6 38938976G> A null A T 3999 3999 missense 0.021 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1203216587 6p21.2 6 38938986A> T null K I 4002 4002 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1203216587 6p21.2 6 38938986A> G null K R 4002 4002 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1256815632 6p21.2 6 38945467G> C null G A 4003 4003 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs868826973 6p21.2 6 38945469G> A null G R 4004 4004 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1472264977 6p21.2 6 38945470G> T null G V 4004 4004 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746171375 6p21.2 6 38945476C> T null A V 4006 4006 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs557517050 6p21.2 6 38945483C> A null D E 4008 4008 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1389149617 6p21.2 6 38945481G> A null D N 4008 4008 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763427413 6p21.2 6 38945485T> C null L P 4009 4009 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1237658259 6p21.2 6 38945491C> G null A G 4011 4011 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764211815 6p21.2 6 38945490G> A null A T 4011 4011 missense 0.998 probably damaging 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774612011 6p21.2 6 38945497C> T null P L 4013 4013 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs762008200 6p21.2 6 38945499C> T null P S 4014 4014 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1052415512 6p21.2 6 38945504A> C null K N 4015 4015 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1247392939 6p21.2 6 38945506C> T null P L 4016 4016 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs373272710 6p21.2 6 38945509A> G null Y C 4017 4017 missense 0.2 benign 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs577374411 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 38945511C> T null R C 4018 4018 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144156671 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38945512G> A null R H 4018 4018 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs144156671 6p21.2 6 38945512G> T null R L 4018 4018 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1366198176 6p21.2 6 38945520C> T null L F 4021 4021 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1216481348 6p21.2 6 38945523G> C null D H 4022 4022 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1266971661 6p21.2 6 38945527T> C null M T 4023 4023 missense 0.974 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760515122 6p21.2 6 38945526A> G null M V 4023 4023 missense 0.959 probably damaging 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561898628 6p21.2 6 38945534G> T null W C 4025 4025 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs766149326 6p21.2 6 38945539A> C null N T 4027 4027 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs754916668 6p21.2 6 38945545T> G null V G 4029 4029 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778944130 6p21.2 6 38945553A> G null S G 4032 4032 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1206580190 6p21.2 6 38945557A> G null K R 4033 4033 missense 0.996 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs146505940 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38945559C> T null L F 4034 4034 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629319 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146505940 6p21.2 6 38945559C> A null L I 4034 4034 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146505940 6p21.2 6 38945559C> G null L V 4034 4034 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs190626920 6p21.2 6 38945562C> T null P S 4035 4035 2.0E-4 missense 0.999 probably damaging 0.47 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1391386376 6p21.2 6 38945569T> C null F S 4037 4037 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769003001 6p21.2 6 38945575A> G null E G 4039 4039 missense 0.997 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed rs141029632 6p21.2 6 38945582G> A null M I 4041 4041 missense 0.228 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777319412 6p21.2 6 38949456C> T null S F 4045 4045 missense 0.265 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs146262277 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38949455T> A null S T 4045 4045 0.002396 missense 0.068 benign 0.29 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000862213 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs751189468 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38949458C> T null R C 4046 4046 missense 0.927 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs139446902 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38949459G> A null R H 4046 4046 0.002796 missense 0.895 possibly damaging 0.07 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629614 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1163341316 6p21.2 6 38949469G> T null K N 4049 4049 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1045521856 6p21.2 6 38949473T> G null W G 4051 4051 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1400645447 6p21.2 6 38949495A> T null D V 4058 4058 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs780928277 6p21.2 6 38949498C> T null A V 4059 4059 missense 0.133 benign 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1409322788 6p21.2 6 38949504A> G null E G 4061 4061 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1348655296 6p21.2 6 38949503G> A null E K 4061 4061 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1351942501 6p21.2 6 38949506G> A null E K 4062 4062 missense 0.021 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs778557111 6p21.2 6 38949521G> A null D N 4067 4067 missense 0.998 probably damaging 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs959738768 6p21.2 6 38949525G> A null G E 4068 4068 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1458756930 6p21.2 6 38949531A> C null N T 4070 4070 missense 0.853 possibly damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1374036995 6p21.2 6 38949536T> G null S A 4072 4072 missense 0.99 probably damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1222699272 6p21.2 6 38949543A> G null D G 4074 4074 missense 0.998 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1320895720 6p21.2 6 38949542G> C null D H 4074 4074 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748723624 6p21.2 6 38949546C> T null T I 4075 4075 missense 0.998 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748723624 6p21.2 6 38949546C> A null T N 4075 4075 missense 0.998 probably damaging 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs200025053 6p21.2 6 38949545A> C null T P 4075 4075 missense 0.998 probably damaging 0.32 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs748723624 6p21.2 6 38949546C> G null T S 4075 4075 missense 0.994 probably damaging 0.33 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1471478014 6p21.2 6 38949549G> T null C F 4076 4076 missense 0.474 possibly damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773467761 6p21.2 6 38949552A> G null H R 4077 4077 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1180625791 6p21.2 6 38949551C> T null H Y 4077 4077 missense 0.228 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,dbSNP,gnomAD rs760843520 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38949566A> G null I V 4082 4082 missense 0.976 probably damaging 0.32 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000474110 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs771014094 6p21.2 6 38949569A> G null R G 4083 4083 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs568273371 6p21.2 6 38949570G> A null R K 4083 4083 2.0E-4 missense 0.99 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs890548759 6p21.2 6 38951318G> C null R S 4083 4083 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs771043522 6p21.2 6 38951324G> C null W C 4085 4085 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368673029 6p21.2 6 38951331G> T null D Y 4088 4088 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1362769199 6p21.2 6 38951334C> T null R C 4089 4089 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374402427 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38951335G> A null R H 4089 4089 2.0E-4 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs1583440880 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38951338C> T null T I 4090 4090 missense 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000797138 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775302234 6p21.2 6 38951346C> G null Q E 4093 4093 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1329114038 6p21.2 6 38951347A> T null Q L 4093 4093 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1340806081 6p21.2 6 38951349G> A null A T 4094 4094 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762766529 6p21.2 6 38951350C> T null A V 4094 4094 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs763970939 6p21.2 6 38951353G> T null R I 4095 4095 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs142667213 6p21.2 6 38951357G> C null K N 4096 4096 2.0E-4 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs571985896 6p21.2 6 38951358T> C null Y H 4097 4097 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1180571529 6p21.2 6 38951361A> G null I V 4098 4098 missense 0.009 benign 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750022918 6p21.2 6 38951364G> A null A T 4099 4099 missense 0.97 probably damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1464740490 6p21.2 6 38951365C> T null A V 4099 4099 missense 0.97 probably damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1461288589 6p21.2 6 38951367G> A null D N 4100 4100 missense 0.009 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs868746258 6p21.2 6 38951376G> A null E K 4103 4103 missense 0.763 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs994663754 6p21.2 6 38951384G> T null K N 4105 4105 missense 0.436 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs994663754 6p21.2 6 38951384G> C null K N 4105 4105 missense 0.436 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs371021462 6p21.2 6 38951383A> C null K T 4105 4105 missense 0.431 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375499346 6p21.2 6 38951389C> T null T I 4107 4107 missense 0.998 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs766163288 6p21.2 6 38951388A> T null T S 4107 4107 missense 0.994 probably damaging 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1470194108 6p21.2 6 38951413A> G null E G 4115 4115 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747614095 6p21.2 6 38951425A> G null E G 4119 4119 missense 0.997 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs140519170 cosmic curated [Cosmic]: liver cosmic_study:323 6p21.2 6 38951424G> C null E Q 4119 4119 missense 0.997 probably damaging 0.22 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1434129598 6p21.2 6 38951432T> G null S R 4121 4121 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs865980865 6p21.2 6 38951437C> T null T I 4123 4123 missense 0.015 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1318531581 6p21.2 6 38951439C> G null R G 4124 4124 missense 0.119 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed,gnomAD rs371307226 6p21.2 6 38951440G> T null R L 4124 4124 missense 0.119 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed,gnomAD rs371307226 6p21.2 6 38951440G> A null R Q 4124 4124 missense 0.006 benign 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1318531581 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 38951439C> T null R W 4124 4124 missense 0.685 possibly damaging 0.01 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs376760583 6p21.2 6 38951442A> G null T A 4125 4125 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1273805892 6p21.2 6 38951446C> T null P L 4126 4126 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1273805892 6p21.2 6 38951446C> G null P R 4126 4126 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1170406490 6p21.2 6 38951445C> T null P S 4126 4126 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561906868 6p21.2 6 38951452T> G null I R 4128 4128 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1323631459 6p21.2 6 38951451A> G null I V 4128 4128 missense 0.976 probably damaging 0.27 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1207279243 6p21.2 6 38951458T> C null F S 4130 4130 missense 0.707 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781379121 6p21.2 6 38951457T> G null F V 4130 4130 missense 0.204 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1266809735 6p21.2 6 38951464C> T null S F 4132 4132 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs746058279 6p21.2 6 38951468G> A null M I 4133 4133 missense 0.974 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763248784 6p21.2 6 38951479C> G null P R 4137 4137 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1206141014 6p21.2 6 38951478C> A null P T 4137 4137 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1279048073 6p21.2 6 38951482C> A null T N 4138 4138 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs775711015 6p21.2 6 38951485A> G null N S 4139 4139 missense 0.085 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs749024693 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.2 6 38951487C> T null Q * 4140 4140 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs768506361 6p21.2 6 38951491T> C null I T 4141 4141 missense 0.226 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554143678 6p21.2 6 38951497C> A null A E 4143 4143 missense 0.999 probably damaging 0.45 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1481472354 6p21.2 6 38951500T> C null L S 4144 4144 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1201447234 6p21.2 6 38951502G> T null A S 4145 4145 missense 0.997 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1452760078 6p21.2 6 38951512T> A null L Q 4148 4148 missense 0.999 probably damaging 0.3 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1158990954 6p21.2 6 38951518T> C null L P 4150 4150 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1386680323 6p21.2 6 38951520G> A null E K 4151 4151 missense 0.996 probably damaging 0.5 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778809220 6p21.2 6 38971594T> G null C G 4152 4152 missense 0.857 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs778809220 6p21.2 6 38971594T> A null C S 4152 4152 missense 0.743 possibly damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1239614458 6p21.2 6 38971600A> C null T P 4154 4154 missense 0.982 probably damaging 0.28 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1395143980 cosmic curated [Cosmic]: lung cosmic_study:418 6p21.2 6 38971607C> G null S * 4156 4156 missense 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1392416546 6p21.2 6 38971609A> C null M L 4157 4157 missense 0.902 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1392416546 6p21.2 6 38971609A> G null M V 4157 4157 missense 0.959 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1309812904 6p21.2 6 38971615C> G null Q E 4159 4159 missense 0.985 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs772000022 6p21.2 6 38971622A> G null Q R 4161 4161 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs919974598 6p21.2 6 38971633G> C null A P 4165 4165 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs150428096 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:22810696,cosmic_study:375 6p21.2 6 38971636C> T null R * 4166 4166 2.0E-4 missense 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs770628767 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia cosmic_study:419 6p21.2 6 38971637G> A null R Q 4166 4166 missense 0.996 probably damaging 0.0 deleterious 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000812374 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs557646259 6p21.2 6 38971647T> G null I M 4169 4169 2.0E-4 missense 0.531 possibly damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1031144268 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38971646T> G null I S 4169 4169 missense 0.313 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1366073824 6p21.2 6 38971651A> T null M L 4171 4171 missense 0.0 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs990624591 6p21.2 6 38971659G> A null M I 4173 4173 missense 0.974 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759309029 6p21.2 6 38971657A> T null M L 4173 4173 missense 0.902 possibly damaging 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759309029 6p21.2 6 38971657A> G null M V 4173 4173 missense 0.959 probably damaging 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762105874 6p21.2 6 38971662G> C null Q H 4174 4174 missense 0.404 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751910064 6p21.2 6 38971661A> C null Q P 4174 4174 missense 0.124 benign 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1342088824 6p21.2 6 38971664A> C null Q P 4175 4175 missense 0.635 possibly damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1344978723 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38973661G> T null G C 4176 4176 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs866974393 6p21.2 6 38973668G> A null W * 4178 4178 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs757218688 6p21.2 6 38973669G> A null W * 4178 4178 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1377947148 6p21.2 6 38973680A> G null Q R 4182 4182 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1325378914 6p21.2 6 38973682A> T null N Y 4183 4183 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs201465001 6p21.2 6 38973687C> G null C W 4184 4184 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs745323392 6p21.2 6 38973689A> G null H R 4185 4185 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1187910901 6p21.2 6 38973691C> A null L I 4186 4186 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs894806968 6p21.2 6 38973695G> A null G D 4187 4187 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61757618 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38973702A> C null E D 4189 4189 0.004193 missense 0.011 benign 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000456409 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes rs572480745 6p21.2 6 38973704T> A null F Y 4190 4190 2.0E-4 missense 0.99 probably damaging 0.46 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed rs143793786 6p21.2 6 38973707T> C null M T 4191 4191 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775203899 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 6p21.2 6 38973709G> A null E K 4192 4192 missense 0.204 benign 0.05 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs146314121 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38973725C> T null T M 4197 4197 9.98E-4 missense 0.056 benign 0.23 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000866753 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs766816061 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38973731T> C null I T 4199 4199 missense 0.0 benign 1.0 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000465209 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs139379184 6p21.2 6 38973736A> G null T A 4201 4201 missense 0.0 benign 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1202066483 6p21.2 6 38973745A> G null S G 4204 4204 missense 0.046 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1426097996 6p21.2 6 38973750T> A null D E 4205 4205 missense 0.0 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs200949378 6p21.2 6 38973752A> C null D A 4206 4206 missense 0.189 benign 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs752937674 6p21.2 6 38973753T> G null D E 4206 4206 missense 0.003 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759661227 6p21.2 6 38973751G> C null D H 4206 4206 missense 0.678 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs758584780 6p21.2 6 38973760C> T null R * 4209 4209 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1305944803 6p21.2 6 38973761G> A null R Q 4209 4209 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1217433728 6p21.2 6 38973764T> C null V A 4210 4210 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764440056 6p21.2 6 38973763G> T null V L 4210 4210 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs867956776 6p21.2 6 38973767G> A null W * 4211 4211 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs922053613 6p21.2 6 38973769A> G null I V 4212 4212 missense 0.059 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757129008 6p21.2 6 38973772A> G null T A 4213 4213 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs372370472 6p21.2 6 38973775A> G null T A 4214 4214 missense 0.994 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs750394180 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38973776C> T null T M 4214 4214 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000470034 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs368883182 6p21.2 6 38973785A> G null H R 4217 4217 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779471571 6p21.2 6 38973784C> T null H Y 4217 4217 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs778552426 6p21.2 6 38973787G> C null D H 4218 4218 missense 0.61 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs747309695 cosmic curated [Cosmic]: endometrium, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:22622578,cosmic_study:376,cosmic_study:388,cosmic_study:419 6p21.2 6 38973790C> T null R * 4219 4219 missense 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs144808884 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia cosmic_study:413 6p21.2 6 38973791G> A null R Q 4219 4219 2.0E-4 missense 0.006 benign 0.88 tolerated 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000457897 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777186173 6p21.2 6 38973799A> G null I V 4222 4222 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1297563537 6p21.2 6 38973806T> G null L W 4224 4224 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1373738757 6p21.2 6 38973809T> C null L P 4225 4225 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1242856712 6p21.2 6 38974374A> G null T A 4227 4227 missense 0.145 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746271289 6p21.2 6 38974380C> T null L F 4229 4229 missense 0.402 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368787070 6p21.2 6 38974392A> T null N Y 4233 4233 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs370456053 6p21.2 6 38974396A> C null E A 4234 4234 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs370456053 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38974396A> G null E G 4234 4234 missense 0.997 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000546766 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561932262 6p21.2 6 38974398C> T null P S 4235 4235 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs569195029 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS pubmed:24265154,cosmic_study:376,cosmic_study:526 6p21.2 6 38974413C> T null R C 4240 4240 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs201939427 6p21.2 6 38974414G> A null R H 4240 4240 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs201939427 6p21.2 6 38974414G> T null R L 4240 4240 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs369473998 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38974416G> A null A T 4241 4241 7.99E-4 missense 0.998 probably damaging 0.01 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000868194 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs142117309 6p21.2 6 38974429G> A null R K 4245 4245 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760531413 6p21.2 6 38974430A> C null R S 4245 4245 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs113487255 6p21.2 6 38974432C> T null T I 4246 4246 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs1583486346 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38974434T> C null F L 4247 4247 missense 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000812421 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs766159939 6p21.2 6 38974437G> A null A T 4248 4248 missense 0.904 possibly damaging 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1264270574 6p21.2 6 38974443A> T null I F 4250 4250 missense 0.997 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1264270574 6p21.2 6 38974443A> G null I V 4250 4250 missense 0.976 probably damaging 0.74 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs968299201 6p21.2 6 38974446A> C null N H 4251 4251 missense 0.802 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753837313 6p21.2 6 38974455C> A null L I 4254 4254 missense 0.995 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs571438417 6p21.2 6 38974463C> A null D E 4256 4256 2.0E-4 missense 0.995 probably damaging 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752320612 6p21.2 6 38974480T> A null M K 4262 4262 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752320612 6p21.2 6 38974480T> C null M T 4262 4262 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764772349 6p21.2 6 38974479A> G null M V 4262 4262 missense 0.959 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs142315396 6p21.2 6 38974487G> T null K N 4264 4264 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs371913220 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38974489C> T null P L 4265 4265 missense 1.0 probably damaging 0.02 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000688053 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780422672 6p21.2 6 38974498A> G null Y C 4268 4268 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749869847 6p21.2 6 38974503G> A null V I 4270 4270 missense 0.994 probably damaging 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1479513627 6p21.2 6 38974507C> G null A G 4271 4271 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1379257645 6p21.2 6 38974516A> C null H P 4274 4274 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1018059147 6p21.2 6 38974515C> T null H Y 4274 4274 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs964731595 6p21.2 6 38974519C> G null S C 4275 4275 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1040033714 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6p21.2 6 38974524G> A null V M 4277 4277 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs902072433 6p21.2 6 38974528A> G null Q R 4278 4278 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1339503481 6p21.2 6 38982347A> G null E G 4279 4279 missense 0.628 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs780517346 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.2 6 38982349C> T null R * 4280 4280 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs749782079 6p21.2 6 38982350G> C null R P 4280 4280 missense 0.764 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1029171985 6p21.2 6 38982352C> T null R * 4281 4281 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1327466194 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 6p21.2 6 38982353G> A null R Q 4281 4281 missense 0.53 possibly damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1401315045 6p21.2 6 38982358T> A null F I 4283 4283 missense 0.011 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1281474390 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38982365C> T null P L 4285 4285 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1281474390 6p21.2 6 38982365C> G null P R 4285 4285 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1240266005 6p21.2 6 38982364C> T null P S 4285 4285 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1357637936 6p21.2 6 38982368T> C null L S 4286 4286 missense 0.751 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779575156 6p21.2 6 38982370G> A null G R 4287 4287 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1405936916 6p21.2 6 38982374G> T null W L 4288 4288 missense 0.011 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,NCI-TCGA rs267601021 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38982382C> T null P S 4291 4291 missense 0.423 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs763568443 6p21.2 6 38982385T> G null Y D 4292 4292 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs763568443 6p21.2 6 38982385T> C null Y H 4292 4292 missense 0.82 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1194425487 6p21.2 6 38982389A> G null E G 4293 4293 missense 0.751 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs773290369 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375,cosmic_study:419 6p21.2 6 38982388G> A null E K 4293 4293 missense 0.583 possibly damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs773290369 6p21.2 6 38982388G> C null E Q 4293 4293 missense 0.834 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1009579026 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 6p21.2 6 38982393C> A null F L 4294 4294 missense 0.99 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP rs1583501877 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38982395A> G null N S 4295 4295 missense 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000798490 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770597133 6p21.2 6 38982413C> A null A D 4301 4301 missense 0.53 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs776374667 6p21.2 6 38982415A> G null S G 4302 4302 missense 0.408 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs776374667 6p21.2 6 38982415A> C null S R 4302 4302 missense 0.707 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs139046748 6p21.2 6 38982430C> A null Q K 4307 4307 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775414233 6p21.2 6 38982434A> G null N S 4308 4308 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762367572 6p21.2 6 38982436C> T null H Y 4309 4309 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs962594921 6p21.2 6 38982448T> C null C R 4313 4313 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs962594921 6p21.2 6 38982448T> A null C S 4313 4313 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs761567737 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38982451G> A null D N 4314 4314 missense 0.023 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1422712718 6p21.2 6 38982452A> T null D V 4314 4314 missense 0.831 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1452127432 6p21.2 6 38982455T> G null I S 4315 4315 missense 0.02 benign 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1381055280 6p21.2 6 38982454A> G null I V 4315 4315 missense 0.182 benign 0.55 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1465267692 6p21.2 6 38982458A> G null K R 4316 4316 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767211001 6p21.2 6 38984207G> A null G D 4318 4318 missense 1.0 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1427875858 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38984206G> A null G S 4318 4318 missense 1.0 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs767211001 6p21.2 6 38984207G> T null G V 4318 4318 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759963989 6p21.2 6 38984209G> A null V I 4319 4319 missense 0.355 benign 0.62 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs765743748 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38984212T> C null S P 4320 4320 missense 0.997 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000473306 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1537232 6p21.2 6 38984222C> T null T M 4323 4323 0.1715 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1401972958 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 6p21.2 6 38984224G> T null V F 4324 4324 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1401972958 6p21.2 6 38984224G> A null V I 4324 4324 missense 0.994 probably damaging 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs368532934 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38984228G> A null R Q 4325 4325 missense 0.996 probably damaging 0.12 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000799979 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201329381 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38984227C> T null R W 4325 4325 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629517 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781390216 6p21.2 6 38984234T> C null M T 4327 4327 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1437563000 6p21.2 6 38984233A> G null M V 4327 4327 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs769556700 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:416 6p21.2 6 38984239G> A null G R 4329 4329 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1259825047 6p21.2 6 38984246T> C null V A 4331 4331 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs759977464 6p21.2 6 38984252du p null Y * 4333 4333 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs779939936 6p21.2 6 38984251T> C null Y H 4333 4333 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372473768 6p21.2 6 38984261G> T null R I 4336 4336 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs372473768 6p21.2 6 38984261G> A null R K 4336 4336 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,NCI-TCGA,gnomAD rs554755440 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38984269G> T null D Y 4339 4339 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs761380037 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38984284C> T null R C 4344 4344 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000685362 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs771763512 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 6p21.2 6 38984285G> A null R H 4344 4344 missense 0.998 probably damaging 0.04 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs772974455 6p21.2 6 38984288T> C null L P 4345 4345 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1279410830 6p21.2 6 38984295T> G null N K 4347 4347 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1199396862 6p21.2 6 38984297G> C null C S 4348 4348 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760440338 6p21.2 6 38984306G> A null R K 4351 4351 missense 0.99 probably damaging 0.97 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs993843561 6p21.2 6 38990013T> A null V D 4352 4352 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs369609087 cosmic curated [Cosmic]: skin pubmed:22622578,cosmic_study:388 6p21.2 6 38990020C> G null F L 4354 4354 missense 0.99 probably damaging 0.04 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs962926737 6p21.2 6 38990026G> C null E D 4356 4356 missense 0.432 benign 0.44 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs139250593 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38990027A> G null K E 4357 4357 5.99E-4 missense 0.383 benign 0.85 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000813841 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs758357466 6p21.2 6 38990029G> T null K N 4357 4357 missense 0.73 possibly damaging 0.7 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs139250593 6p21.2 6 38990027A> C null K Q 4357 4357 5.99E-4 missense 0.73 possibly damaging 0.54 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs952221460 6p21.2 6 38990032G> A null M I 4358 4358 missense 0.041 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs952221460 6p21.2 6 38990032G> T null M I 4358 4358 missense 0.041 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1314057565 6p21.2 6 38990030A> C null M L 4358 4358 missense 0.0 benign 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777862332 6p21.2 6 38990031T> C null M T 4358 4358 missense 0.093 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1314057565 6p21.2 6 38990030A> G null M V 4358 4358 missense 0.043 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746456693 6p21.2 6 38990036G> A null E K 4360 4360 missense 0.189 benign 0.49 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770419203 6p21.2 6 38990040C> T null P L 4361 4361 missense 0.152 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs745559263 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 6p21.2 6 38990042T> C null S P 4362 4362 missense 0.23 benign 0.1 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1202233491 6p21.2 6 38990048T> C null C R 4364 4364 missense 0.029 benign 0.51 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1181739902 6p21.2 6 38990052T> G null F C 4365 4365 missense 0.812 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774659821 6p21.2 6 38990054T> C null Y H 4366 4366 missense 0.731 possibly damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762187345 6p21.2 6 38990057A> G null T A 4367 4367 missense 0.068 benign 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1398560065 6p21.2 6 38990058C> T null T I 4367 4367 missense 0.01 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1239764086 6p21.2 6 38990064A> G null Y C 4369 4369 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773773755 6p21.2 6 38990070T> G null I S 4371 4371 missense 0.566 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1279630441 6p21.2 6 38990073C> T null P L 4372 4372 missense 0.502 possibly damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3737094 6p21.2 6 38990077A> T null L F 4373 4373 0.3287 missense 0.093 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1424312828 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38990085C> T null T I 4376 4376 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1424312828 6p21.2 6 38990085C> A null T N 4376 4376 missense 0.23 benign 0.31 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759633459 6p21.2 6 38990092C> G null D E 4378 4378 missense 0.005 benign 0.7 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs754059502 6p21.2 6 38990091A> G null D G 4378 4378 missense 0.1 benign 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs867092648 6p21.2 6 38990093C> T null Q * 4379 4379 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765516705 6p21.2 6 38990097A> G null Y C 4380 4380 missense 0.844 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs752478642 6p21.2 6 38990107C> A null Y * 4383 4383 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1342894063 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.2 6 38990111C> T null Q * 4385 4385 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs758269268 6p21.2 6 38990112A> G null Q R 4385 4385 missense 0.068 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1561950124 6p21.2 6 38990117C> G null L V 4387 4387 missense 0.317 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777852040 6p21.2 6 38990124C> G null S C 4389 4389 missense 0.58 possibly damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs777852040 6p21.2 6 38990124C> T null S F 4389 4389 missense 0.506 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs371653382 6p21.2 6 38990130A> G null D G 4391 4391 missense 0.304 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780608781 6p21.2 6 38990136C> T null P L 4393 4393 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780608781 6p21.2 6 38990136C> G null P R 4393 4393 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs756772987 6p21.2 6 38990135C> T null P S 4393 4393 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs934747831 6p21.2 6 38990140A> C null E D 4394 4394 missense 0.1 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs934747831 6p21.2 6 38990140A> T null E D 4394 4394 missense 0.1 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1221115991 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 38990142T> C null V A 4395 4395 missense 0.102 benign 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1221115991 6p21.2 6 38990142T> A null V D 4395 4395 missense 0.402 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs764077114 6p21.2 6 38990157C> G null P R 4400 4400 missense 0.502 possibly damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1446480421 6p21.2 6 38990163C> T null A V 4402 4402 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1217517467 6p21.2 6 38990166A> T null D V 4403 4403 missense 0.746 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1312100106 6p21.2 6 38990170C> G null I M 4404 4404 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115630842 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 38990172C> T null T M 4405 4405 9.98E-4 missense 0.896 possibly damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000862446 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1311691958 6p21.2 6 39008821A> T null S C 4408 4408 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1380705924 6p21.2 6 39008827A> G null T A 4410 4410 missense 0.994 probably damaging 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs745927375 6p21.2 6 39008831C> A null A D 4411 4411 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs976348584 6p21.2 6 39008830G> T null A S 4411 4411 missense 0.997 probably damaging 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770060725 6p21.2 6 39008834C> T null S F 4412 4412 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs775837101 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 39008837C> A null A D 4413 4413 missense 0.0 benign 0.95 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1211553121 6p21.2 6 39008843T> C null L P 4415 4415 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763309459 6p21.2 6 39008845G> C null E Q 4416 4416 missense 0.176 benign 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764444093 6p21.2 6 39008848A> G null T A 4417 4417 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1178899014 6p21.2 6 39008849C> A null T K 4417 4417 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773970749 6p21.2 6 39008851A> T null I F 4418 4418 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773970749 6p21.2 6 39008851A> G null I V 4418 4418 missense 0.976 probably damaging 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761682260 6p21.2 6 39008867C> T null P L 4423 4423 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs755556134 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39008881G> C null G R 4428 4428 missense 1.0 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000696318 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs765911536 6p21.2 6 39008888T> C null V A 4430 4430 missense 0.003 benign 0.17 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs267601022 6p21.2 6 39008900G> A null R Q 4434 4434 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs189023122 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39008899C> T null R W 4434 4434 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000534986 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs181050326 6p21.2 6 39008904G> T null E D 4435 4435 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747265665 6p21.2 6 39008910T> G null I M 4437 4437 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757704087 6p21.2 6 39008915A> G null Y C 4439 4439 missense 0.999 probably damaging 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781541650 6p21.2 6 39008918G> A null R K 4440 4440 missense 0.99 probably damaging 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375894977 6p21.2 6 39008922A> T null L F 4441 4441 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs769965696 6p21.2 6 39008923T> C null S P 4442 4442 missense 0.514 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1259592779 6p21.2 6 39008927A> G null E G 4443 4443 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs775675371 6p21.2 6 39008934G> A null M I 4445 4445 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1045837707 6p21.2 6 39008933T> C null M T 4445 4445 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1459751204 6p21.2 6 39008932A> G null M V 4445 4445 missense 0.959 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs749403032 6p21.2 6 39008936T> C null L P 4446 4446 missense 0.906 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs748451088 6p21.2 6 39008939G> A null S N 4447 4447 missense 0.005 benign 0.07 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs905680377 6p21.2 6 39008947C> G null P A 4450 4450 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774637811 6p21.2 6 39008948C> G null P R 4450 4450 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1173362541 6p21.2 6 39008951C> T null P L 4451 4451 missense 0.007 benign 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761510899 6p21.2 6 39008953G> C null D H 4452 4452 missense 0.662 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs761510899 6p21.2 6 39008953G> T null D Y 4452 4452 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1465774199 cosmic curated [Cosmic]: liver cosmic_study:323 6p21.2 6 39008959A> G null I V 4454 4454 missense 0.0 benign 0.38 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767393243 6p21.2 6 39008962C> T null P S 4455 4455 missense 0.005 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs572567288 6p21.2 6 39008966A> G null H R 4456 4456 2.0E-4 missense 0.995 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1404480553 6p21.2 6 39008965C> T null H Y 4456 4456 missense 0.993 probably damaging 0.39 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1267323208 6p21.2 6 39012215G> A null V M 4458 4458 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal dbSNP,gnomAD rs1488366198 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39012221T> A null S T 4460 4460 missense 0.007 benign 0.14 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629281 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs143714496 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39012224C> T null R C 4461 4461 0.001198 missense 0.999 probably damaging 0.02 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000468604 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs148106120 6p21.2 6 39012225G> A null R H 4461 4461 missense 0.998 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1224542783 6p21.2 6 39012228T> G null L W 4462 4462 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs972829158 6p21.2 6 39012238G> C null M I 4465 4465 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs972829158 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 39012238G> A null M I 4465 4465 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760473609 6p21.2 6 39012239G> T null G C 4466 4466 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770784587 6p21.2 6 39012240G> A null G D 4466 4466 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs200138700 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39012245C> T null L F 4468 4468 missense 0.999 probably damaging 0.33 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000698579 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764854257 6p21.2 6 39012252C> A null S * 4470 4470 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764854257 6p21.2 6 39012252C> T null S L 4470 4470 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs979919245 6p21.2 6 39012254A> G null M V 4471 4471 missense 0.959 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200416428 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39012260A> C null I L 4473 4473 2.0E-4 missense 0.976 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000707645 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs935296041 6p21.2 6 39012269A> G null R G 4476 4476 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs762630419 6p21.2 6 39012270G> A null R K 4476 4476 missense 0.99 probably damaging 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1444174890 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:375 6p21.2 6 39012275G> T null E * 4478 4478 missense 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763679903 6p21.2 6 39012279T> C null I T 4479 4479 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs750759315 6p21.2 6 39012283C> G null D E 4480 4480 missense 0.995 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1241609542 6p21.2 6 39012287A> C null M L 4482 4482 missense 0.001 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs142409299 6p21.2 6 39012288T> C null M T 4482 4482 missense 0.191 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1241609542 6p21.2 6 39012287A> G null M V 4482 4482 missense 0.069 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780704251 6p21.2 6 39012291A> G null Q R 4483 4483 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10484847 6p21.2 6 39012305A> C null I L 4488 4488 0.1064 missense 0.001 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs10484847 pubmed:12297094 6p21.2 6 39012305A> G null I V 4488 4488 0.1064 missense 0.047 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs78849281 cosmic curated [Cosmic]: stomach, [ClinVar]: Primary ciliary dyskinesia cosmic_study:371 6p21.2 6 39012311C> T null R C 4490 4490 0.01158 missense 0.999 probably damaging 0.0 deleterious 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000228271 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs202160082 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 39012312G> A null R H 4490 4490 2.0E-4 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202160082 6p21.2 6 39012312G> T null R L 4490 4490 2.0E-4 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs934977401 6p21.2 6 39012329C> G null L V 4496 4496 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs577421218 6p21.2 6 39012337G> T null L F 4498 4498 0.001597 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1242166967 6p21.2 6 39012338G> A null A T 4499 4499 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,gnomAD rs564074826 6p21.2 6 39012342T> C null I T 4500 4500 5.99E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746798789 6p21.2 6 39012341A> G null I V 4500 4500 missense 0.976 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs367599642 6p21.2 6 39012350A> T null T S 4503 4503 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs776524012 6p21.2 6 39012353A> G null I V 4504 4504 missense 0.976 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759513101 6p21.2 6 39012360T> C null M T 4506 4506 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1448526911 6p21.2 6 39012359A> G null M V 4506 4506 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1229430586 6p21.2 6 39012367G> C null E D 4508 4508 missense 0.994 probably damaging 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs533039239 6p21.2 6 39012365G> A null E K 4508 4508 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1305121208 6p21.2 6 39012460G> A null A T 4513 4513 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs745689526 6p21.2 6 39012464T> C null L P 4514 4514 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1218550898 6p21.2 6 39012469A> G null N D 4516 4516 missense 0.996 probably damaging 0.4 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs376558712 6p21.2 6 39012473T> C null M T 4517 4517 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs373389654 6p21.2 6 39012476A> G null Y C 4518 4518 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs373389654 6p21.2 6 39012476A> C null Y S 4518 4518 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs200536426 6p21.2 6 39012478G> A null D N 4519 4519 5.99E-4 missense 0.998 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1312861905 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 39012484C> T null R C 4521 4521 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs143366223 6p21.2 6 39012485G> A null R H 4521 4521 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774127036 6p21.2 6 39012491C> T null P L 4523 4523 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1261116322 6p21.2 6 39012490C> T null P S 4523 4523 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761515917 6p21.2 6 39012512C> G null S C 4530 4530 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs868271357 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 39012517G> A null D N 4532 4532 missense 0.998 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs777077456 6p21.2 6 39012518A> T null D V 4532 4532 missense 0.999 probably damaging 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765766734 6p21.2 6 39012521C> T null S L 4533 4533 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs759822978 6p21.2 6 39012520T> C null S P 4533 4533 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765766734 6p21.2 6 39012521C> G null S W 4533 4533 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs138278528 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39012530T> C null L P 4536 4536 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000687381 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764196380 6p21.2 6 39012533G> A null G D 4537 4537 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1399976095 6p21.2 6 39012535T> C null F L 4538 4538 missense 0.99 probably damaging 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751672521 6p21.2 6 39012540G> C null W C 4539 4539 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1342799867 6p21.2 6 39012542T> C null F S 4540 4540 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781410557 6p21.2 6 39012544A> G null T A 4541 4541 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs745613099 6p21.2 6 39012550C> A null L I 4543 4543 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1221140553 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23856246,cosmic_study:504 6p21.2 6 39012560G> T null R I 4546 4546 missense 0.998 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs755930044 6p21.2 6 39012572T> A null F Y 4550 4550 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780029779 6p21.2 6 39012577A> G null T A 4552 4552 missense 0.0 benign 0.21 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,NCI-TCGA,gnomAD rs375993164 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:435 6p21.2 6 39012578C> T null T M 4552 4552 missense 0.012 benign 0.01 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs780029779 6p21.2 6 39012577A> T null T S 4552 4552 missense 0.046 benign 0.79 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes rs201878949 6p21.2 6 39012595A> G null R G 4558 4558 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1196568176 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 39012596G> A null R K 4558 4558 missense 0.99 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed rs370309820 6p21.2 6 39012599C> T null P L 4559 4559 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773947845 6p21.2 6 39012598C> A null P T 4559 4559 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,TOPMed,gnomAD rs369301487 6p21.2 6 39012603T> A null N K 4560 4560 missense 0.068 benign 0.59 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1418508178 6p21.2 6 39012612G> A null W * 4563 4563 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1469293863 6p21.2 6 39012611G> T null W L 4563 4563 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1183541765 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 6p21.2 6 39012615G> T null M I 4564 4564 missense 0.974 probably damaging 0.04 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773062288 6p21.2 6 39012613A> T null M L 4564 4564 missense 0.902 possibly damaging 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,dbSNP,gnomAD rs970547854 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39012614T> C null M T 4564 4564 missense 0.974 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000793105 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1404091935 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 6p21.2 6 39012624C> A null F L 4567 4567 missense 0.99 probably damaging 0.01 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1404091935 cosmic curated [Cosmic]: large_intestine cosmic_study:375 6p21.2 6 39012624C> G null F L 4567 4567 missense 0.99 probably damaging 0.01 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs761015201 6p21.2 6 39012636A> C null Q H 4571 4571 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs770644934 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6p21.2 6 39026546G> A null G D 4572 4572 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs763392096 6p21.2 6 39026550C> A null F L 4573 4573 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1255911909 6p21.2 6 39026555C> T null T I 4575 4575 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs761867918 6p21.2 6 39026557G> C null A P 4576 4576 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767633539 6p21.2 6 39026560A> G null M V 4577 4577 missense 0.959 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760758332 6p21.2 6 39026566C> A null Q K 4579 4579 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs766636793 6p21.2 6 39026569G> T null E * 4580 4580 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs766636793 6p21.2 6 39026569G> A null E K 4580 4580 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1369490256 6p21.2 6 39026575A> G null T A 4582 4582 missense 0.021 benign 0.19 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1476391693 6p21.2 6 39026576C> T null T I 4582 4582 missense 0.628 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144505769 6p21.2 6 39026578C> T null R C 4583 4583 5.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139227429 6p21.2 6 39026579G> A null R H 4583 4583 9.98E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139227429 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39026579G> T null R L 4583 4583 9.98E-4 missense 0.997 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000461050 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs757948242 6p21.2 6 39026590G> T null G C 4587 4587 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs757948242 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 39026590G> A null G S 4587 4587 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC rs181776947 6p21.2 6 39026595G> C null W C 4588 4588 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs746555033 6p21.2 6 39026593T> C null W R 4588 4588 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs943095717 6p21.2 6 39026604C> A null D E 4591 4591 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1425708244 6p21.2 6 39026605A> G null T A 4592 4592 missense 0.052 benign 0.12 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1276123037 6p21.2 6 39026612C> T null T I 4594 4594 missense 0.998 probably damaging 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC rs576551796 6p21.2 6 39026614A> C null I L 4595 4595 2.0E-4 missense 0.976 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,TOPMed,gnomAD rs199891264 6p21.2 6 39026615T> C null I T 4595 4595 2.0E-4 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1218893576 6p21.2 6 39026617C> T null H Y 4596 4596 missense 0.563 possibly damaging 0.55 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,dbSNP,gnomAD rs774818998 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39026621A> G null N S 4597 4597 missense 0.013 benign 0.18 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629389 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl,dbSNP rs1554166182 cosmic curated [Cosmic]: skin, [ClinVar]: Primary ciliary dyskinesia pubmed:22842228,cosmic_study:511 6p21.2 6 39026623G> A null E K 4598 4598 missense 0.133 benign 0.09 tolerated 1 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000549554 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1342272616 6p21.2 6 39026626G> A null V I 4599 4599 missense 0.994 probably damaging 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1256229286 6p21.2 6 39026641A> G null K E 4604 4604 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs773105785 6p21.2 6 39026643G> T null K N 4604 4604 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1262963539 6p21.2 6 39026649G> T null E D 4606 4606 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs1554166195 6p21.2 6 39026650A> T null I F 4607 4607 missense 0.28 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142438011 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39026654C> T null T M 4608 4608 0.001597 missense 0.007 benign 0.05 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000457038 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs765159791 6p21.2 6 39026657C> T null S L 4609 4609 missense 0.001 benign 0.14 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759378748 6p21.2 6 39026656T> C null S P 4609 4609 missense 0.124 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1173291536 6p21.2 6 39026660C> T null P L 4610 4610 missense 0.329 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs752568525 6p21.2 6 39026659C> T null P S 4610 4610 missense 0.329 benign 0.15 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed rs145951114 6p21.2 6 39026662C> G null P A 4611 4611 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs371583300 6p21.2 6 39026666G> T null G V 4612 4612 missense 0.0 benign 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375455553 6p21.2 6 39030106A> C null E A 4613 4613 missense 0.996 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375455553 6p21.2 6 39030106A> G null E G 4613 4613 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375455553 6p21.2 6 39030106A> T null E V 4613 4613 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1307894494 6p21.2 6 39030109G> A null G D 4614 4614 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ExAC,gnomAD rs552095365 6p21.2 6 39030115A> G null Y C 4616 4616 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC rs763937775 6p21.2 6 39030117A> G null I V 4617 4617 missense 0.976 probably damaging 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1488336144 6p21.2 6 39030121A> G null Y C 4618 4618 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139810428 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39030126C> T null L F 4620 4620 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000473601 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1255052749 6p21.2 6 39030127T> A null L H 4620 4620 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1178177073 6p21.2 6 39030135G> A null D N 4623 4623 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1380983192 6p21.2 6 39030145C> T null A V 4626 4626 missense 0.189 benign 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs749968962 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 39030157G> A null R Q 4630 4630 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs368133429 cosmic curated [Cosmic]: skin pubmed:22622578,cosmic_study:388 6p21.2 6 39030156C> T null R W 4630 4630 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1012706272 6p21.2 6 39030159A> G null N D 4631 4631 missense 0.996 probably damaging 0.09 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs779574046 6p21.2 6 39030161T> G null N K 4631 4631 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1338709868 6p21.2 6 39030162G> A null G R 4632 4632 missense 0.615 possibly damaging 0.35 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1396310613 6p21.2 6 39030167G> T null K N 4633 4633 missense 0.588 possibly damaging 0.03 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs778119823 6p21.2 6 39030173G> A null M I 4635 4635 missense 0.0 benign 0.88 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs971757386 6p21.2 6 39030171A> C null M L 4635 4635 missense 0.0 benign 0.26 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs372017066 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39030172T> C null M T 4635 4635 missense 0.0 benign 0.89 tolerated 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000542574 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs971757386 6p21.2 6 39030171A> G null M V 4635 4635 missense 0.0 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1277832623 6p21.2 6 39030175A> T null E V 4636 4636 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs747587475 cosmic curated [Cosmic]: kidney cosmic_study:416 6p21.2 6 39030184C> T null P L 4639 4639 missense 0.144 benign 0.01 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1321509570 6p21.2 6 39030186A> G null K E 4640 4640 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1208589636 6p21.2 6 39030187A> G null K R 4640 4640 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs776800713 6p21.2 6 39030192C> A null L I 4642 4642 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs537682653 6p21.2 6 39030199C> T null T M 4644 4644 missense 0.006 benign 0.05 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs534222145 6p21.2 6 39030198A> C null T P 4644 4644 missense 0.23 benign 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs770077175 6p21.2 6 39030207C> G null P A 4647 4647 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,gnomAD rs762646929 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 39030210G> A null V M 4648 4648 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs139155514 6p21.2 6 39030219A> T null I F 4651 4651 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs139155514 6p21.2 6 39030219A> C null I L 4651 4651 missense 0.104 benign 0.13 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs139155514 6p21.2 6 39030219A> G null I V 4651 4651 missense 0.014 benign 0.78 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs767466008 6p21.2 6 39030223T> G null F C 4652 4652 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,dbSNP,gnomAD rs149938578 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39030222T> C null F L 4652 4652 missense 0.204 benign 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000629386 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1165457095 6p21.2 6 39030225G> A null A T 4653 4653 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs200859037 6p21.2 6 39030230T> G null I M 4654 4654 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs749879377 6p21.2 6 39030229T> G null I S 4654 4654 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs766001409 6p21.2 6 39030232A> G null N S 4655 4655 missense 0.271 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs201967679 6p21.2 6 39030238C> T null T M 4657 4657 missense 0.734 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1186788424 6p21.2 6 39030241C> T null A V 4658 4658 missense 0.135 benign 0.16 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs753537544 6p21.2 6 39030244C> T null P L 4659 4659 missense 0.999 probably damaging 0.18 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs912050560 6p21.2 6 39030247A> G null K R 4660 4660 missense 0.007 benign 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs764365988 6p21.2 6 39030263T> A null Y * 4665 4665 stop gained 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs201770911 6p21.2 6 39030264G> T null V L 4666 4666 missense 0.053 benign 0.22 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs1273911449 6p21.2 6 39030271C> T null P L 4668 4668 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs375162535 6p21.2 6 39030274T> C null I T 4669 4669 missense 0.22 benign 0.1 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs768210451 6p21.2 6 39030273A> G null I V 4669 4669 missense 0.003 benign 1.0 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1480196346 6p21.2 6 39030277A> T null Y F 4670 4670 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs144993102 6p21.2 6 39030285C> G null P A 4673 4673 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1375982831 6p21.2 6 39030286C> G null P R 4673 4673 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs144993102 6p21.2 6 39030285C> T null P S 4673 4673 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1320341705 6p21.2 6 39030288A> G null R G 4674 4674 missense 0.22 benign 0.11 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs774150212 6p21.2 6 39030289G> C null R T 4674 4674 missense 0.286 benign 0.23 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs369355205 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:376 6p21.2 6 39030291C> T null R * 4675 4675 missense 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,TOPMed,gnomAD rs369355205 6p21.2 6 39030291C> G null R G 4675 4675 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,NCI-TCGA,TOPMed,gnomAD rs771990678 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 39030292G> A null R Q 4675 4675 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal Ensembl rs894603406 6p21.2 6 39030297G> A null D N 4677 4677 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs760152805 6p21.2 6 39030312A> T null T S 4682 4682 missense 0.994 probably damaging 0.57 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1435926892 6p21.2 6 39030319T> C null V A 4684 4684 missense 0.872 possibly damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs781709296 6p21.2 6 39030318G> A null V I 4684 4684 missense 0.269 benign 0.42 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs146551804 [ClinVar]: Primary ciliary dyskinesia, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6p21.2 6 39030327C> T null R * 4687 4687 2.0E-4 stop gained 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000232177 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs907018999 6p21.2 6 39030328G> T null R L 4687 4687 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed,gnomAD rs907018999 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.2 6 39030328G> A null R Q 4687 4687 missense 0.996 probably damaging 0.28 tolerated 1 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs1390109355 6p21.2 6 39030330A> C null T P 4688 4688 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs759178418 6p21.2 6 39030342C> G null P A 4692 4692 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147878071 [ClinVar]: Primary ciliary dyskinesia 6p21.2 6 39030343C> T null P L 4692 4692 0.001198 missense 1.0 probably damaging 0.0 deleterious 0 Primary ciliary dyskinesia (PCD) Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). MIM:PS244400 pubmed:20301301,ClinVar:RCV000531044 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1217668162 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.2 6 39030348C> T null H Y 4694 4694 missense 0.993 probably damaging 0.08 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ESP,ExAC,gnomAD rs377129758 6p21.2 6 39030354A> G null I V 4696 4696 missense 0.976 probably damaging 0.36 tolerated 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs560936004 6p21.2 6 39030357C> G null L V 4697 4697 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1487188355 6p21.2 6 39030361G> C null R T 4698 4698 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,gnomAD rs751017640 6p21.2 6 39030363G> A null G R 4699 4699 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs989852679 6p21.2 6 39030372C> A null L I 4702 4702 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs989852679 6p21.2 6 39030372C> G null L V 4702 4702 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1393982368 6p21.2 6 39030379G> T null C F 4704 4704 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1393982368 6p21.2 6 39030379G> A null C Y 4704 4704 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1454290575 6p21.2 6 39030384A> C null I L 4706 4706 missense 0.065 benign 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal gnomAD rs1027982582 6p21.2 6 39030389G> T null K N 4707 4707 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal ExAC,TOPMed,gnomAD rs749353362 6p21.2 6 39030388A> G null K R 4707 4707 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6F3 DNAH8 Dynein heavy chain 8, axonemal TOPMed rs935262021 6p21.2 6 39030390T> C null * Q 4708 4708 stop lost 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) Ensembl rs1017321349 20q11.21 20 31514555G> A null D N 2 2 missense 0.015 benign 0.01 deleterious - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs970802635 20q11.21 20 31514559C> T null S L 3 3 missense 0.054 benign 0.02 deleterious - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs970802635 20q11.21 20 31514559C> G null S W 3 3 missense 0.737 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1260700641 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 20q11.21 20 31514562C> T null A V 4 4 missense 0.024 benign 0.28 tolerated - low confidence 1 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) 1000Genomes rs560495625 20q11.21 20 31514564C> T null L F 5 5 2.0E-4 missense 0.282 benign 0.08 tolerated - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs768823297 20q11.21 20 31514567A> G null S G 6 6 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs774562081 20q11.21 20 31514569C> A null S R 6 6 missense 0.183 benign 0.12 tolerated - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1477613983 20q11.21 20 31514572T> G null D E 7 7 missense 0.003 benign 0.37 tolerated - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs761608092 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q11.21 20 31514570G> A null D N 7 7 missense 0.187 benign 0.11 tolerated - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs761608092 20q11.21 20 31514570G> T null D Y 7 7 missense 0.84 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202162303 20q11.21 20 31514576C> A null H N 9 9 2.0E-4 missense 0.073 benign 0.64 tolerated - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1195085469 20q11.21 20 31514577A> C null H P 9 9 missense 0.143 benign 0.22 tolerated - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202162303 20q11.21 20 31514576C> T null H Y 9 9 2.0E-4 missense 0.198 benign 0.1 tolerated - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1230329741 20q11.21 20 31514582G> T null G C 11 11 missense 0.99 probably damaging 0.02 deleterious - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs760643674 20q11.21 20 31514583G> T null G V 11 11 missense 0.976 probably damaging 0.07 tolerated - low confidence 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs753345885 20q11.21 20 31514588G> A null A T 13 13 missense 0.003 benign 0.22 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1470372647 20q11.21 20 31514591G> A null E K 14 14 missense 0.0 benign 0.56 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs754444274 20q11.21 20 31514592A> T null E V 14 14 missense 0.0 benign 0.19 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs981349493 20q11.21 20 31514595C> G null A G 15 15 missense 0.037 benign 0.2 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs764810718 20q11.21 20 31514598G> A null G D 16 16 missense 0.149 benign 0.15 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1384229093 20q11.21 20 31514597G> C null G R 16 16 missense 0.17 benign 0.12 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs752350092 20q11.21 20 31514600G> C null G R 17 17 missense 0.261 benign 0.28 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs752350092 20q11.21 20 31514600G> A null G S 17 17 missense 0.003 benign 0.72 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) Ensembl rs1568775037 20q11.21 20 31514607C> T null T I 19 19 missense 0.005 benign 0.16 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1222507689 20q11.21 20 31514610A> G null N S 20 20 missense 0.059 benign 0.12 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1222507689 20q11.21 20 31514610A> C null N T 20 20 missense 0.12 benign 0.12 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1281036201 20q11.21 20 31514619C> T null T M 23 23 missense 0.437 benign 0.09 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs757729524 20q11.21 20 31514621C> T null R W 24 24 missense 0.715 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs1260020285 20q11.21 20 31514625C> T null P L 25 25 missense 0.33 benign 0.7 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1223624028 20q11.21 20 31514624C> T null P S 25 25 missense 0.316 benign 0.53 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1206608649 20q11.21 20 31514627C> G null P A 26 26 missense 0.147 benign 0.25 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs1262167289 20q11.21 20 31514628C> G null P R 26 26 missense 0.962 probably damaging 0.04 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1206608649 20q11.21 20 31514627C> A null P T 26 26 missense 0.832 possibly damaging 0.05 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1490142862 20q11.21 20 31514630T> C null S P 27 27 missense 0.698 possibly damaging 0.1 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1197510243 20q11.21 20 31514636C> G null P A 29 29 missense 0.996 probably damaging 0.11 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1402184474 20q11.21 20 31514641G> C null E D 30 30 missense 0.758 possibly damaging 0.03 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1298063953 20q11.21 20 31514642G> A null G S 31 31 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs746215329 20q11.21 20 31514646T> C null I T 32 32 missense 0.466 possibly damaging 0.46 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377405908 20q11.21 20 31514659C> A null Y * 36 36 stop gained 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) 1000Genomes,ExAC,gnomAD rs546129856 20q11.21 20 31514658A> G null Y C 36 36 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) 1000Genomes,ExAC,gnomAD rs546129856 20q11.21 20 31514658A> T null Y F 36 36 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1365316672 20q11.21 20 31514672C> T null L F 41 41 missense 0.681 possibly damaging 0.31 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1300852357 20q11.21 20 31514677G> A null M I 42 42 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs1411951182 20q11.21 20 31514676T> A null M K 42 42 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1403528437 20q11.21 20 31514675A> T null M L 42 42 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1169462904 20q11.21 20 31514679C> G null A G 43 43 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1188549733 20q11.21 20 31514685T> G null L R 45 45 missense 0.983 probably damaging 0.02 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1241087615 20q11.21 20 31514694T> C null F S 48 48 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1208340257 20q11.21 20 31514702G> T null A S 51 51 missense 0.243 benign 1.0 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1490579370 20q11.21 20 31514714G> T null V L 55 55 missense 0.686 possibly damaging 0.12 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369776751 20q11.21 20 31514723G> T null A S 58 58 3.99E-4 missense 0.023 benign 0.75 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1160428855 20q11.21 20 31514724C> T null A V 58 58 missense 0.022 benign 0.29 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs760449257 20q11.21 20 31514726C> G null R G 59 59 missense 0.148 benign 0.01 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1423072621 20q11.21 20 31514727G> T null R L 59 59 missense 0.009 benign 0.12 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1458094185 20q11.21 20 31514730G> A null G D 60 60 missense 0.062 benign 0.52 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs776574042 20q11.21 20 31514729G> A null G S 60 60 missense 0.001 benign 0.84 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ESP,ExAC,gnomAD rs368138547 20q11.21 20 31527484A> G null N D 62 62 missense 0.062 benign 0.34 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs772338141 20q11.21 20 31527498G> A null M I 66 66 missense 0.003 benign 0.34 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs772338141 20q11.21 20 31527498G> T null M I 66 66 missense 0.003 benign 0.34 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs955502204 20q11.21 20 31527499C> G null P A 67 67 missense 0.034 benign 0.1 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs777967232 20q11.21 20 31527505A> G null T A 69 69 missense 0.343 benign 0.01 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs770711982 20q11.21 20 31527518G> A null R Q 73 73 missense 0.01 benign 0.03 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1485726046 20q11.21 20 31527517C> T null R W 73 73 missense 0.663 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1319409650 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 20q11.21 20 31527520G> A null D N 74 74 missense 0.881 possibly damaging 0.0 deleterious 1 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs762323467 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q11.21 20 31527526G> A null A T 76 76 missense 0.951 probably damaging 0.05 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1427959459 20q11.21 20 31527529C> T null R C 77 77 missense 0.761 possibly damaging 0.08 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1415529629 20q11.21 20 31527530G> A null R H 77 77 missense 0.537 possibly damaging 0.3 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1170300995 20q11.21 20 31527536C> T null P L 79 79 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs769600146 20q11.21 20 31527538A> G null I V 80 80 missense 0.011 benign 0.26 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1312672834 20q11.21 20 31527541A> T null I F 81 81 missense 0.018 benign 0.06 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs974101065 20q11.21 20 31527544G> A null A T 82 82 missense 0.704 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs763847318 20q11.21 20 31527553A> G null T A 85 85 missense 0.001 benign 0.69 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs760965063 20q11.21 20 31527561G> T null L F 87 87 missense 0.007 benign 1.0 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1279899791 20q11.21 20 31527566T> C null L P 89 89 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs754117683 20q11.21 20 31527570C> A null Y * 90 90 stop gained 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1210808246 20q11.21 20 31527571C> A null L I 91 91 missense 0.028 benign 0.86 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs1018545595 20q11.21 20 31527577T> G null F V 93 93 missense 0.691 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs774176148 20q11.21 20 31538182T> C null F L 96 96 missense 0.086 benign 0.09 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs774176148 20q11.21 20 31538182T> G null F V 96 96 missense 0.493 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs767054259 20q11.21 20 31538195A> G null Y C 100 100 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs761563799 20q11.21 20 31538194T> C null Y H 100 100 missense 0.2 benign 0.2 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs777110293 20q11.21 20 31538197A> T null I F 101 101 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs777110293 20q11.21 20 31538197A> C null I L 101 101 missense 0.182 benign 0.03 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1246767316 20q11.21 20 31538201A> G null N S 102 102 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372222178 20q11.21 20 31538216T> C null M T 107 107 missense 0.138 benign 0.21 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1457093191 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q11.21 20 31538215A> G null M V 107 107 missense 0.006 benign 0.49 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs758504552 20q11.21 20 31538227G> T null V L 111 111 missense 0.015 benign 0.34 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs758504552 20q11.21 20 31538227G> A null V M 111 111 missense 0.216 benign 0.03 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs867672052 20q11.21 20 31538238C> G null I M 114 114 missense 0.281 benign 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs764200650 20q11.21 20 31538239C> G null L V 115 115 missense 0.155 benign 0.14 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) Ensembl rs999484510 20q11.21 20 31538245C> G null L V 117 117 missense 0.664 possibly damaging 0.07 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs751571084 20q11.21 20 31538249C> A null S Y 118 118 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs757561027 20q11.21 20 31538255C> T null T I 120 120 missense 0.003 benign 0.36 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) 1000Genomes,ExAC,gnomAD rs577935862 20q11.21 20 31544954A> C null M L 125 125 2.0E-4 missense 0.001 benign 0.36 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) 1000Genomes,ExAC,gnomAD rs577935862 20q11.21 20 31544954A> G null M V 125 125 2.0E-4 missense 0.001 benign 0.75 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs778710357 20q11.21 20 31544958A> G null N S 126 126 missense 0.006 benign 0.88 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs184082131 20q11.21 20 31544963T> A null F I 128 128 0.002196 missense 0.006 benign 0.47 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1188009163 20q11.21 20 31544966T> C null F L 129 129 missense 0.007 benign 0.5 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1368292148 20q11.21 20 31544978T> C null F L 133 133 missense 0.003 benign 0.58 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs771425200 20q11.21 20 31544988G> A null R Q 136 136 missense 0.01 benign 0.57 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs1424395240 20q11.21 20 31544994A> G null Y C 138 138 missense 0.873 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs775892685 20q11.21 20 31545009C> T null T I 143 143 missense 0.015 benign 0.05 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1408971445 20q11.21 20 31545014G> A null G S 145 145 missense 0.059 benign 0.08 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1318081253 20q11.21 20 31545020G> A null G R 147 147 missense 0.077 benign 0.09 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1303713021 20q11.21 20 31545028C> A null N K 149 149 missense 0.001 benign 0.7 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1325124746 20q11.21 20 31545032G> A null E K 151 151 missense 0.015 benign 0.2 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1443208811 20q11.21 20 31549030G> C null E D 152 152 missense 0.006 benign 0.39 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs772519493 20q11.21 20 31549029A> G null E G 152 152 missense 0.036 benign 0.04 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs773786478 20q11.21 20 31549033C> G null I M 153 153 missense 0.086 benign 0.05 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) 1000Genomes,ExAC,gnomAD rs552557597 20q11.21 20 31549038A> G null N S 155 155 2.0E-4 missense 0.018 benign 0.01 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1457919540 20q11.21 20 31549040T> C null Y H 156 156 missense 0.799 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1457919540 20q11.21 20 31549040T> A null Y N 156 156 missense 0.656 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) Ensembl rs1568792894 20q11.21 20 31549045A> T null E D 157 157 missense 0.03 benign 0.13 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs750956171 20q11.21 20 31549051C> A null D E 159 159 missense 0.142 benign 0.01 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs777024280 20q11.21 20 31549050A> G null D G 159 159 missense 0.596 possibly damaging 0.04 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) Ensembl rs1568792903 20q11.21 20 31549053C> A null T N 160 160 missense 0.039 benign 0.16 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs765484395 20q11.21 20 31549058G> A null D N 162 162 missense 0.043 benign 0.05 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1489942543 20q11.21 20 31549061C> A null L M 163 163 missense 0.349 benign 0.07 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs775216833 20q11.21 20 31549064G> C null V L 164 164 missense 0.043 benign 0.18 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs764034697 20q11.21 20 31549067T> C null C R 165 165 missense 0.637 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1217894557 20q11.21 20 31549069C> G null C W 165 165 missense 0.879 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs751453148 cosmic curated [Cosmic]: breast pubmed:23856246,cosmic_study:504 20q11.21 20 31549068G> A null C Y 165 165 missense 0.562 possibly damaging 0.0 deleterious 1 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1459182726 20q11.21 20 31549073G> A null G S 167 167 missense 0.015 benign 0.04 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1199784725 20q11.21 20 31549077T> C null L P 168 168 missense 0.02 benign 0.02 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs749909671 20q11.21 20 31549080G> C null S T 169 169 missense 0.738 possibly damaging 0.11 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs748463508 20q11.21 20 31549089T> C null V A 172 172 missense 0.138 benign 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374785220 20q11.21 20 31549088G> A null V I 172 172 2.0E-4 missense 0.007 benign 0.41 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs758729513 20q11.21 20 31549092G> A null G D 173 173 missense 0.931 probably damaging 0.03 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377441140 cosmic curated [Cosmic]: prostate, [Cosmic]: large_intestine pubmed:21892161,pubmed:22722839,cosmic_study:391,cosmic_study:407 20q11.21 20 31549094G> A null V I 174 174 missense 0.248 benign 0.17 tolerated 1 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1383742730 20q11.21 20 31549098G> C null W S 175 175 missense 0.674 possibly damaging 0.04 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1331912788 20q11.21 20 31549107T> G null L R 178 178 missense 0.099 benign 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ESP,ExAC,TOPMed,gnomAD rs150636757 20q11.21 20 31549110G> A null R K 179 179 missense 0.006 benign 1.0 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1458009957 20q11.21 20 31550074C> G null T S 184 184 missense 0.911 probably damaging 0.04 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) Ensembl rs774831148 20q11.21 20 31550077A> G null N S 185 185 missense 0.198 benign 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs748330154 20q11.21 20 31550088A> G null T A 189 189 missense 0.721 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1473897617 20q11.21 20 31550100T> G null S A 193 193 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) Ensembl,NCI-TCGA rs17855400 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q11.21 20 31550101C> T null S F 193 193 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) Ensembl rs777141256 20q11.21 20 31550106G> A null E K 195 195 missense 0.766 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC rs770904499 20q11.21 20 31550116T> A null I K 198 198 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1263972170 20q11.21 20 31554773A> G null K R 209 209 missense 0.012 benign 0.26 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1379905361 20q11.21 20 31554782A> G null E G 212 212 missense 0.003 benign 0.27 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200379311 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q11.21 20 31554781G> A null E K 212 212 missense 0.194 benign 0.53 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ESP,ExAC,TOPMed,gnomAD rs200379311 20q11.21 20 31554781G> C null E Q 212 212 missense 0.467 possibly damaging 0.34 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1487137552 20q11.21 20 31554788A> G null N S 214 214 missense 0.0 benign 1.0 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1158425784 20q11.21 20 31554799A> G null M V 218 218 missense 0.359 benign 0.07 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1417472873 20q11.21 20 31554812G> A null G E 222 222 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs756183196 20q11.21 20 31554817G> A null V I 224 224 missense 0.0 benign 1.0 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372753255 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q11.21 20 31554820G> A null V I 225 225 missense 0.692 possibly damaging 0.04 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1332763562 20q11.21 20 31554827C> T null P L 227 227 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs755920140 20q11.21 20 31559629T> C null L P 234 234 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,TOPMed,gnomAD rs753680836 20q11.21 20 31559634C> T null R C 236 236 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) NCI-TCGA,gnomAD rs759894516 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q11.21 20 31559635G> A null R H 236 236 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs1195177298 20q11.21 20 31559637T> G null F V 237 237 missense 0.749 possibly damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs754913862 20q11.21 20 31559643A> T null I F 239 239 missense 0.012 benign 0.7 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs778338252 20q11.21 20 31559645C> G null I M 239 239 missense 0.089 benign 0.22 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs754913862 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q11.21 20 31559643A> G null I V 239 239 missense 0.006 benign 0.53 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1467114113 20q11.21 20 31561648C> T null T I 245 245 missense 0.089 benign 0.01 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs752154107 20q11.21 20 31561663A> G null Y C 250 250 missense 0.879 possibly damaging 0.02 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs1356357341 cosmic curated [Cosmic]: endometrium cosmic_study:419 20q11.21 20 31561670C> G null S R 252 252 missense 0.923 probably damaging 0.0 deleterious 1 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1258213800 20q11.21 20 31561678C> T null A V 255 255 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs757853963 20q11.21 20 31561683A> G null I V 257 257 missense 0.02 benign 0.2 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1342496693 20q11.21 20 31561687T> C null F S 258 258 missense 0.103 benign 0.05 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) gnomAD rs1301213926 20q11.21 20 31561689G> A null G S 259 259 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed rs1287724017 20q11.21 20 31561695G> A null G S 261 261 missense 0.061 benign 0.1 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs777434392 20q11.21 20 31561710A> G null I V 266 266 missense 0.005 benign 1.0 tolerated 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) TOPMed,gnomAD rs1212687872 20q11.21 20 31561720T> A null I N 269 269 missense 0.213 benign 0.0 deleterious 0 A0A075B6F6 HM13 Minor histocompatibility antigen H13 (Fragment) ExAC,gnomAD rs746702779 20q11.21 20 31561723T> A null F Y 270 270 missense 0.723 possibly damaging 0.08 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1419603246 19q13.33 19 49560684C> G null R P 3 3 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs996963376 19q13.33 19 49560685G> A null R W 3 3 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1408151536 19q13.33 19 49560678C> T null G D 5 5 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs778892261 19q13.33 19 49560675T> C null K R 6 6 missense 0.536 possibly damaging 0.73 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs764358157 19q13.33 19 49560660C> T null G E 11 11 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1449044667 19q13.33 19 49560658C> T null A T 12 12 missense 0.172 benign 0.29 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,TOPMed,gnomAD rs373372386 19q13.33 19 49560657G> A null A V 12 12 missense 0.835 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs777226139 19q13.33 19 49560655C> A null V F 13 13 missense 0.925 probably damaging 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs777226139 19q13.33 19 49560655C> T null V I 13 13 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1488575532 19q13.33 19 49560649T> C null T A 15 15 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,TOPMed,gnomAD rs369863958 19q13.33 19 49560644G> C null Y * 16 16 stop gained 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1221790458 19q13.33 19 49560642T> C null H R 17 17 missense 0.582 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1343160133 19q13.33 19 49560640C> T null E K 18 18 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs762823521 19q13.33 19 49560631T> C null K E 21 21 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1224319623 19q13.33 19 49560629C> A null K N 21 21 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1224319623 19q13.33 19 49560629C> G null K N 21 21 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs762843467 19q13.33 19 49560039G> A null A V 24 24 missense 0.02 benign 0.12 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1009398687 19q13.33 19 49560013T> C null I V 33 33 missense 0.001 benign 0.48 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1275538743 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.33 19 49560010G> A null R * 34 34 stop gained 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1227176476 19q13.33 19 49560009C> T null R Q 34 34 missense 0.303 benign 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein Ensembl rs1568724951 19q13.33 19 49560006A> G null L P 35 35 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein Ensembl rs960368965 19q13.33 19 49560004T> C null S G 36 36 missense 0.015 benign 1.0 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1315160192 19q13.33 19 49560003C> T null S N 36 36 missense 0.036 benign 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein Ensembl rs1568724914 19q13.33 19 49560000C> T null R Q 37 37 missense 0.206 benign 0.05 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1432497287 19q13.33 19 49559998C> T null D N 38 38 missense 0.909 probably damaging 0.03 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein Ensembl rs867913659 19q13.33 19 49559994G> A null A V 39 39 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs768366062 19q13.33 19 49559992C> T null V M 40 40 missense 0.092 benign 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs760425715 19q13.33 19 49559981G> C null F L 43 43 missense 0.55 possibly damaging 0.06 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1446453191 19q13.33 19 49559979T> G null D A 44 44 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs775323843 19q13.33 19 49559980C> G null D H 44 44 missense 0.989 probably damaging 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs775323843 19q13.33 19 49559980C> T null D N 44 44 missense 0.509 possibly damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1162427500 19q13.33 19 49559965A> T null S T 49 49 missense 0.178 benign 1.0 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1385722912 19q13.33 19 49559950G> C null H D 54 54 missense 0.34 benign 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1385722912 19q13.33 19 49559950G> A null H Y 54 54 missense 0.709 possibly damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs779285289 19q13.33 19 49559947C> T null D N 55 55 missense 0.233 benign 0.73 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1233180989 19q13.33 19 49559941C> G null V L 57 57 missense 0.552 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1001952426 19q13.33 19 49559938C> G null V L 58 58 missense 0.29 benign 0.07 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,TOPMed,gnomAD rs370833946 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49559934G> A null T I 59 59 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,TOPMed,gnomAD rs370833946 19q13.33 19 49559934G> C null T S 59 59 missense 0.255 benign 0.17 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1427534182 19q13.33 19 49558976G> A null P L 60 60 missense 0.962 probably damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1347003747 19q13.33 19 49558977G> A null P S 60 60 missense 0.523 possibly damaging 0.07 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs753806135 19q13.33 19 49558967T> C null Y C 63 63 missense 0.914 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1377499726 19q13.33 19 49558964A> T null L Q 64 64 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1462936981 19q13.33 19 49558961T> C null Y C 65 65 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs764184868 19q13.33 19 49558956G> A null R C 67 67 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs938456550 19q13.33 19 49558955C> T null R H 67 67 missense 0.105 benign 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs938456550 19q13.33 19 49558955C> A null R L 67 67 missense 0.77 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein Ensembl rs759763761 19q13.33 19 49558949G> T null A D 69 69 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1477134927 19q13.33 19 49558947T> C null I V 70 70 missense 0.873 possibly damaging 0.18 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs755682821 19q13.33 19 49558929G> A null H Y 76 76 missense 0.026 benign 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs752257192 19q13.33 19 49558920T> C null K E 79 79 missense 0.034 benign 0.1 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1372396852 19q13.33 19 49558918C> G null K N 79 79 missense 0.026 benign 0.29 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1253729061 19q13.33 19 49558919T> C null K R 79 79 missense 0.007 benign 0.25 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs767023635 19q13.33 19 49558916T> G null E A 80 80 missense 0.17 benign 0.09 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC rs759258487 19q13.33 19 49558914T> G null I L 81 81 missense 0.007 benign 0.38 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1216519575 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49558910G> A null A V 82 82 missense 0.019 benign 0.08 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs766703222 19q13.33 19 49558907C> T null R Q 83 83 missense 0.373 benign 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370070206 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49558908G> A null R W 83 83 missense 0.099 benign 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1463992892 19q13.33 19 49557248G> A null A V 87 87 missense 0.607 possibly damaging 0.17 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1367188779 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49557245T> C null Y C 88 88 missense 0.245 benign 0.03 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1444763551 19q13.33 19 49557243C> A null E * 89 89 stop gained 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1444763551 19q13.33 19 49557243C> T null E K 89 89 missense 0.187 benign 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs754491390 19q13.33 19 49557240T> G null K Q 90 90 missense 0.328 benign 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1436855961 19q13.33 19 49557233C> T null R Q 92 92 missense 0.003 benign 0.36 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1176453226 19q13.33 19 49557234G> A null R W 92 92 missense 0.655 possibly damaging 0.18 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1309230211 19q13.33 19 49557231C> G null G R 93 93 missense 0.009 benign 0.41 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1250973102 19q13.33 19 49557227G> A null T I 94 94 missense 0.003 benign 0.15 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,TOPMed,gnomAD rs200238455 19q13.33 19 49557225G> C null R G 95 95 missense 0.068 benign 0.16 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1487476518 19q13.33 19 49557224C> G null R P 95 95 missense 0.005 benign 0.12 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,TOPMed,gnomAD rs200238455 19q13.33 19 49557225G> A null R W 95 95 missense 0.54 possibly damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1325369637 19q13.33 19 49557222G> A null R C 96 96 missense 0.013 benign 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs151017072 19q13.33 19 49557219C> T null E K 97 97 missense 0.038 benign 0.38 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs151017072 19q13.33 19 49557219C> G null E Q 97 97 missense 0.104 benign 0.19 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein Ensembl rs1568722307 19q13.33 19 49557216C> T null E K 98 98 missense 0.272 benign 0.08 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed rs762403392 19q13.33 19 49557211C> G null Q H 99 99 missense 0.286 benign 0.11 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed rs762403392 19q13.33 19 49557211C> A null Q H 99 99 missense 0.286 benign 0.11 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed rs776532299 19q13.33 19 49557210T> C null K E 100 100 missense 0.0 benign 0.77 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs768749037 19q13.33 19 49557208C> G null K N 100 100 missense 0.014 benign 0.35 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1011408552 19q13.33 19 49557194G> C null A G 105 105 missense 0.765 possibly damaging 0.05 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1011408552 19q13.33 19 49557194G> A null A V 105 105 missense 0.814 possibly damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,TOPMed,gnomAD rs199804285 19q13.33 19 49557188G> A null S L 107 107 missense 0.0 benign 0.21 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1303135812 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.33 19 49557186G> A null Q * 108 108 stop gained 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1386623628 19q13.33 19 49557179T> C null H R 110 110 missense 0.0 benign 0.34 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,TOPMed,gnomAD rs138001141 19q13.33 19 49557180G> A null H Y 110 110 missense 0.017 benign 0.09 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1469318896 19q13.33 19 49557173C> T null R Q 112 112 missense 0.091 benign 0.3 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,NCI-TCGA,gnomAD rs769816516 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49557174G> A null R W 112 112 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1186539310 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49557170C> T null G D 113 113 missense 0.012 benign 0.39 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1186539310 19q13.33 19 49557170C> A null G V 113 113 missense 0.021 benign 0.16 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs751092563 19q13.33 19 49557158T> C null K R 117 117 missense 0.142 benign 0.47 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs751092563 19q13.33 19 49557158T> G null K T 117 117 missense 0.09 benign 0.49 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs758056354 19q13.33 19 49557152G> T null S * 119 119 stop gained 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs779613179 19q13.33 19 49557153A> T null S T 119 119 missense 0.001 benign 0.6 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed rs754347770 19q13.33 19 49557147T> A null I F 121 121 missense 0.974 probably damaging 0.06 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed rs754347770 19q13.33 19 49557147T> C null I V 121 121 missense 0.279 benign 0.09 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein 1000Genomes,ExAC,TOPMed,gnomAD rs201976944 19q13.33 19 49557144C> G null V L 122 122 2.0E-4 missense 0.022 benign 0.15 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein 1000Genomes,ExAC,TOPMed,gnomAD rs201976944 19q13.33 19 49557144C> A null V L 122 122 2.0E-4 missense 0.022 benign 0.15 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein 1000Genomes,ExAC,TOPMed,gnomAD rs201976944 19q13.33 19 49557144C> T null V M 122 122 2.0E-4 missense 0.143 benign 0.12 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1350273519 19q13.33 19 49557140C> T null S N 123 123 missense 0.054 benign 0.08 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs772372595 19q13.33 19 49557137C> T null R Q 124 124 missense 0.035 benign 0.26 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs775726917 19q13.33 19 49557138G> A null R W 124 124 missense 0.84 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs375469093 19q13.33 19 49557132G> A null L F 126 126 missense 0.947 probably damaging 0.53 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs375469093 19q13.33 19 49557132G> T null L I 126 126 missense 0.236 benign 0.53 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs769613583 19q13.33 19 49557127G> C null N K 127 127 missense 0.316 benign 0.22 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs944633904 19q13.33 19 49557125G> T null P H 128 128 missense 0.622 possibly damaging 0.03 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1406091463 19q13.33 19 49557126G> T null P T 128 128 missense 0.771 possibly damaging 0.19 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs747954571 19q13.33 19 49557119G> A null T I 130 130 missense 0.108 benign 0.12 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1399569740 19q13.33 19 49557117C> T null A T 131 131 missense 0.003 benign 0.56 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1259184349 19q13.33 19 49557114T> C null K E 132 132 missense 0.615 possibly damaging 0.57 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs919275543 19q13.33 19 49557108G> A null L F 134 134 missense 0.006 benign 0.06 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs768477864 19q13.33 19 49557104G> A null S L 135 135 missense 0.017 benign 0.16 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1199807755 19q13.33 19 49557099T> C null T A 137 137 missense 0.014 benign 0.34 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1481391496 19q13.33 19 49557098G> A null T I 137 137 missense 0.034 benign 0.05 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,TOPMed,gnomAD rs376597835 19q13.33 19 49557089C> T null G D 140 140 missense 0.0 benign 0.26 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein 1000Genomes,ExAC,gnomAD rs578168985 19q13.33 19 49557085G> C null D E 141 141 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1285034160 19q13.33 19 49557087C> T null D N 141 141 missense 0.0 benign 0.59 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1321589931 19q13.33 19 49557083G> A null S L 142 142 missense 0.001 benign 0.26 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs753236913 19q13.33 19 49556993T> G null D A 143 143 missense 0.79 possibly damaging 0.65 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs753236913 19q13.33 19 49556993T> C null D G 143 143 missense 0.013 benign 0.39 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs753236913 19q13.33 19 49556993T> A null D V 143 143 missense 0.916 probably damaging 0.23 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs768200508 19q13.33 19 49556991C> G null D H 144 144 missense 0.579 possibly damaging 0.1 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs755108331 19q13.33 19 49556988C> T null V I 145 145 missense 0.003 benign 0.21 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs751690144 19q13.33 19 49556983T> G null Q H 146 146 missense 0.357 benign 0.1 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1415409021 19q13.33 19 49556984T> C null Q R 146 146 missense 0.003 benign 0.35 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1175119319 19q13.33 19 49556982G> T null P T 147 147 missense 0.127 benign 0.08 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs766561412 19q13.33 19 49556967C> A null G C 152 152 missense 0.001 benign 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1170597053 19q13.33 19 49556966C> A null G V 152 152 missense 0.088 benign 0.09 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs763103809 19q13.33 19 49556961G> A null P S 154 154 missense 0.0 benign 0.74 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs763763680 19q13.33 19 49556957C> T null S N 155 155 missense 0.007 benign 0.18 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1231543334 19q13.33 19 49556950G> T null D E 157 157 missense 0.003 benign 0.86 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1484357222 19q13.33 19 49556951T> C null D G 157 157 missense 0.169 benign 1.0 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,gnomAD rs368503120 19q13.33 19 49556947C> A null K N 158 158 missense 0.421 benign 0.08 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein 1000Genomes,ExAC,gnomAD rs555883614 19q13.33 19 49556940C> T null V M 161 161 2.0E-4 missense 0.007 benign 0.11 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1275773136 19q13.33 19 49556937G> T null L M 162 162 missense 0.866 possibly damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs990830867 19q13.33 19 49556933G> A null P L 163 163 missense 0.826 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs758989830 19q13.33 19 49556918G> A null P L 168 168 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein Ensembl,dbSNP rs17850728 pubmed:15489334 19q13.33 19 49556909G> A null T M 171 171 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1442609579 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556904C> T null E K 173 173 missense 0.058 benign 0.25 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1356027900 19q13.33 19 49556897T> C null K R 175 175 missense 0.462 possibly damaging 0.05 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs957992254 19q13.33 19 49556888T> C null K R 178 178 missense 0.007 benign 0.27 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein Ensembl rs746981590 19q13.33 19 49556878C> A null K N 181 181 missense 0.739 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1423911495 19q13.33 19 49556877G> T null P T 182 182 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1360034901 19q13.33 19 49556733G> A null R C 184 184 missense 0.571 possibly damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs770327606 19q13.33 19 49556732C> A null R L 184 184 missense 0.017 benign 0.08 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376400410 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556729G> A null T M 185 185 missense 0.238 benign 0.03 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs769578558 19q13.33 19 49556723G> A null T I 187 187 missense 0.062 benign 0.21 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs748461813 19q13.33 19 49556717G> A null P L 189 189 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1427254646 19q13.33 19 49556713C> T null M I 190 190 missense 0.028 benign 0.15 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141077974 19q13.33 19 49556714A> G null M T 190 190 3.99E-4 missense 0.099 benign 0.08 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein Ensembl rs989970099 19q13.33 19 49556708C> T null G E 192 192 missense 0.273 benign 0.05 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1260438688 19q13.33 19 49556709C> G null G R 192 192 missense 0.105 benign 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1490492312 19q13.33 19 49556706T> C null K E 193 193 missense 0.053 benign 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs769242681 19q13.33 19 49556702G> A null P L 194 194 missense 0.969 probably damaging 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1324072664 19q13.33 19 49556697G> A null R C 196 196 missense 0.944 probably damaging 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1225154501 19q13.33 19 49556692C> T null M I 197 197 missense 0.192 benign 0.33 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs924569928 19q13.33 19 49556694T> G null M L 197 197 missense 0.005 benign 0.58 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs747441040 19q13.33 19 49556690G> A null S L 198 198 missense 0.249 benign 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs747441040 19q13.33 19 49556690G> C null S W 198 198 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein Ensembl rs971092767 19q13.33 19 49556681G> C null T R 201 201 missense 0.769 possibly damaging 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1452177977 19q13.33 19 49556679G> A null P S 202 202 missense 0.025 benign 0.29 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs757747143 19q13.33 19 49556676C> G null V L 203 203 missense 0.801 possibly damaging 0.03 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein 1000Genomes rs528844653 19q13.33 19 49556664G> C null P A 207 207 2.0E-4 missense 0.022 benign 0.72 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs865863056 19q13.33 19 49556663G> A null P L 207 207 missense 0.024 benign 0.45 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs991270581 19q13.33 19 49556656G> C null D E 209 209 missense 0.461 possibly damaging 0.48 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1365701396 19q13.33 19 49556654C> G null S T 210 210 missense 0.009 benign 0.06 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1450844850 19q13.33 19 49556643G> A null R C 214 214 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs757493593 19q13.33 19 49556634G> A null L F 217 217 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs752451382 19q13.33 19 49556627G> A null T I 219 219 missense 0.543 possibly damaging 0.18 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs752451382 19q13.33 19 49556627G> T null T N 219 219 missense 0.007 benign 0.32 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,NCI-TCGA,gnomAD rs767271460 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556625G> A null R C 220 220 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs767271460 19q13.33 19 49556625G> C null R G 220 220 missense 0.053 benign 0.06 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1343983191 19q13.33 19 49556622T> A null S C 221 221 missense 0.769 possibly damaging 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs759426411 19q13.33 19 49556619C> G null E Q 222 222 missense 0.77 possibly damaging 0.61 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs958721605 19q13.33 19 49556611G> C null Y * 224 224 stop gained 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs751441811 19q13.33 19 49556610C> T null V M 225 225 missense 0.084 benign 1.0 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1207189854 19q13.33 19 49556607A> T null C S 226 226 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,NCI-TCGA,TOPMed,gnomAD rs772788289 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556601C> T null V M 228 228 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs764930641 19q13.33 19 49556597G> T null T N 229 229 missense 0.899 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1341234051 19q13.33 19 49556595G> A null R C 230 230 missense 0.888 possibly damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,gnomAD rs369839191 19q13.33 19 49556594C> T null R H 230 230 missense 0.021 benign 1.0 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs747462873 19q13.33 19 49556592C> G null D H 231 231 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs747462873 19q13.33 19 49556592C> T null D N 231 231 missense 0.835 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs775855155 19q13.33 19 49556588C> T null S N 232 232 missense 0.038 benign 0.23 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs966801837 19q13.33 19 49556581G> T null S R 234 234 missense 0.16 benign 0.16 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs772637224 19q13.33 19 49556579T> C null N S 235 235 missense 0.897 possibly damaging 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs757369043 19q13.33 19 49556571G> C null P A 238 238 missense 0.615 possibly damaging 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs749491556 19q13.33 19 49556570G> C null P R 238 238 missense 0.615 possibly damaging 0.19 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1008745775 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556565C> T null A T 240 240 missense 0.947 probably damaging 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs781518095 19q13.33 19 49556555C> A null R L 243 243 missense 0.93 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs781518095 19q13.33 19 49556555C> T null R Q 243 243 missense 0.527 possibly damaging 0.05 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs754728597 19q13.33 19 49556553G> T null P T 244 244 missense 0.024 benign 0.98 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1435309155 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556423C> T null G E 246 246 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1478929902 19q13.33 19 49556421C> T null A T 247 247 missense 0.096 benign 0.59 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs750366685 19q13.33 19 49556415C> G null V L 249 249 missense 0.331 benign 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs779054554 19q13.33 19 49556409G> A null L F 251 251 missense 0.336 benign 0.1 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs756824747 19q13.33 19 49556404T> A null E D 252 252 missense 0.085 benign 0.23 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1210802336 19q13.33 19 49556403A> G null C R 253 253 missense 0.82 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1417952554 19q13.33 19 49556399A> G null V A 254 254 missense 0.646 possibly damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs760406810 19q13.33 19 49556400C> A null V L 254 254 missense 0.552 possibly damaging 0.06 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs760406810 19q13.33 19 49556400C> T null V M 254 254 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ESP,ExAC,TOPMed,gnomAD rs142202252 19q13.33 19 49556395C> G null E D 255 255 missense 0.174 benign 0.1 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1462374780 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556385G> A null R W 259 259 missense 0.963 probably damaging 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1347687821 19q13.33 19 49556378T> G null D A 261 261 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1201431638 19q13.33 19 49556379C> T null D N 261 261 missense 0.982 probably damaging 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1478182768 19q13.33 19 49556376T> C null M V 262 262 missense 0.17 benign 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1226008214 19q13.33 19 49556368G> T null D E 264 264 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs767900611 19q13.33 19 49556370C> T null D N 264 264 missense 0.909 probably damaging 0.12 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed,gnomAD rs1365252524 19q13.33 19 49556363A> C null V G 266 266 missense 0.521 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein 1000Genomes,ExAC,TOPMed,gnomAD rs537534103 19q13.33 19 49556355C> T null D N 269 269 0.001198 missense 0.005 benign 0.13 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1450006020 19q13.33 19 49556352T> C null K E 270 270 missense 0.197 benign 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs774833205 19q13.33 19 49556349G> T null L I 271 271 missense 0.828 possibly damaging 0.07 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1158879379 19q13.33 19 49556345G> T null T K 272 272 missense 0.013 benign 0.85 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,NCI-TCGA,TOPMed,gnomAD rs762959254 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556340G> A null R C 274 274 missense 0.655 possibly damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs773298711 19q13.33 19 49556339C> A null R L 274 274 missense 0.152 benign 0.05 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs769870703 19q13.33 19 49556334T> C null I V 276 276 missense 0.047 benign 0.05 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein TOPMed rs1334993781 19q13.33 19 49556330A> G null I T 277 277 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,TOPMed,gnomAD rs748374339 19q13.33 19 49556331T> C null I V 277 277 missense 0.321 benign 0.03 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1442939703 19q13.33 19 49556321T> C null Q R 280 280 missense 0.132 benign 0.04 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1211204224 19q13.33 19 49556318C> T null R Q 281 281 missense 0.967 probably damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1237282977 19q13.33 19 49556319G> A null R W 281 281 missense 0.651 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs764364369 19q13.33 19 49555816T> C null T A 284 284 missense 0.836 possibly damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,NCI-TCGA,gnomAD rs770835468 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49555807C> A null A S 287 287 missense 0.681 possibly damaging 0.23 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1228739217 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49555806G> A null A V 287 287 missense 0.861 possibly damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,NCI-TCGA,gnomAD rs769628946 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49555798C> T null G R 290 290 missense 0.852 possibly damaging 0.14 tolerated 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs780594414 19q13.33 19 49555782G> A null A V 295 295 missense 0.168 benign 0.03 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs746645712 19q13.33 19 49555770C> G null R P 299 299 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein Ensembl rs775828579 19q13.33 19 49555771G> A null R W 299 299 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein gnomAD rs1343613784 19q13.33 19 49555767G> T null P Q 300 300 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6F9 NOSIP Nitric oxide synthase-interacting protein ExAC,gnomAD rs765719587 19q13.33 19 49555756C> T null A T 304 304 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1307612793 Xp21.1 X 33211309G> A null L F 2 2 missense 0.865 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398122853 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy pubmed:12632325,pubmed:19206170 Xp21.1 X 33211304C> T null W * 3 3 stop gained 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000022854 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398122853 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy pubmed:12632325,pubmed:19206170 Xp21.1 X 33211304C> T null W * 3 3 stop gained 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000984166 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398122853 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy pubmed:12632325,pubmed:19206170 Xp21.1 X 33211304C> T null W * 3 3 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000173322 A0A075B6G3 DMD Dystrophin Ensembl rs1384868120 Xp21.1 X 33211302C> T null W * 4 4 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs796065325 Xp21.1 X 33211298_33211299delins A null E null 5 5 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557300135 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 33211294de l null E * 6 7 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000549342 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs765870891 Xp21.1 X 33211293A> G null V A 7 7 missense 0.007 benign 0.59 tolerated - low confidence 0 A0A075B6G3 DMD Dystrophin gnomAD rs1330369801 Xp21.1 X 33211289C> G null E D 8 8 missense 0.006 benign 0.32 tolerated - low confidence 0 A0A075B6G3 DMD Dystrophin gnomAD rs1470154494 Xp21.1 X 33211286G> C null D E 9 9 missense 0.009 benign 0.09 tolerated - low confidence 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123913 Xp21.1 X 33211285de l null C null 10 10 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603419076 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 33211284de l null C null 10 10 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000798687 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794726909 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 33211284C> G null C S 10 10 missense 0.005 benign 0.87 tolerated - low confidence 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000797337 A0A075B6G3 DMD Dystrophin dbSNP rs1602766725 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 33020194_33020198de l null E null 12 12 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000795752 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759615251 Xp21.1 X 33020198C> T null E K 12 12 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759615251 Xp21.1 X 33020198C> G null E Q 12 12 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs587780918 Xp21.1 X 33020194C> T null R K 13 13 missense 0.865 possibly damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1060502652 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 33020192_33020193CT[1 ] null E null 14 14 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000468912 A0A075B6G3 DMD Dystrophin dbSNP rs1602766655 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 33020193de l null E null 14 14 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990765 A0A075B6G3 DMD Dystrophin gnomAD rs1389235987 Xp21.1 X 33020192C> T null E K 14 14 missense 0.332 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs876657780 Xp21.1 X 33020189C> G null D H 15 15 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602766531 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 33020182de l null K null 18 18 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990764 A0A075B6G3 DMD Dystrophin dbSNP rs1602766499 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 33020177de l null T null 20 20 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990763 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774357500 Xp21.1 X 33020174T> C null T A 20 20 missense 0.526 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398124010 Xp21.1 X 33020170A> G null F S 21 21 missense 0.113 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886039061 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 33020158A> G null V A 25 25 missense 0.12 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000822152 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057521321 Xp21.1 X 33020156T> C null N D 26 26 missense 0.671 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057521321 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 33020156T> G null N H 26 26 missense 0.953 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000699928 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727272 Xp21.1 X 33020154A> C null N K 26 26 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1057519180 Xp21.1 X 33020153du p null A null 27 27 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs763407275 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 33020152G> T null A E 27 27 missense 0.05 benign 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000806384 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043234 Xp21.1 X 33020153C> G null A P 27 27 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs763407275 Xp21.1 X 33020152G> A null A V 27 27 missense 0.621 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1477536019 Xp21.1 X 33020150G> C null Q E 28 28 missense 0.175 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886044521 Xp21.1 X 33020141T> C null K E 31 31 missense 0.69 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs201790047 Xp21.1 X 32849820A> G null F L 32 32 missense 0.038 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557084280 Xp21.1 X 32849814T> A null K * 34 34 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557084280 Xp21.1 X 32849814T> C null K E 34 34 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1477107648 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32849810T> G null Q P 35 35 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001221297 A0A075B6G3 DMD Dystrophin ExAC rs751668434 Xp21.1 X 32849807T> A null H L 36 36 missense 0.084 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs763415074 Xp21.1 X 32849805T> G null I L 37 37 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs763415074 Xp21.1 X 32849805T> C null I V 37 37 missense 0.4 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1458160863 Xp21.1 X 32849800C> G null E D 38 38 missense 0.0 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1001154410 Xp21.1 X 32849796G> C null L V 40 40 missense 0.742 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557084218 Xp21.1 X 32849789C> T null S N 42 42 missense 0.005 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727499 Xp21.1 X 32849781G> A null Q * 45 45 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123858 Xp21.1 X 32849777T> A null D V 46 46 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123859 Xp21.1 X 32849776_32849777du p null G null 47 47 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123860 Xp21.1 X 32849774C> G null G A 47 47 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123860 Xp21.1 X 32849774C> T null G E 47 47 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557084183 Xp21.1 X 32849775C> A null G W 47 47 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569533965 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32849775du p null R null 48 48 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000685001 A0A075B6G3 DMD Dystrophin Ensembl rs1569533964 Xp21.1 X 32849772T> C null R G 48 48 missense 0.546 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1278945683 Xp21.1 X 32849771C> T null R K 48 48 missense 0.011 benign 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs147548697 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32849769G> A null R C 49 49 missense 0.003 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001085127 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs765584669 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32849768C> T null R H 49 49 missense 0.007 benign 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000695408 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557084149 [ClinVar]: Duchenne muscular dystrophy pubmed:31671740 Xp21.1 X 32849765A> T null L H 50 50 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630527 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044089 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32849762A> G null L P 51 51 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000685041 A0A075B6G3 DMD Dystrophin dbSNP rs1557084128 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32849761du p null D null 52 52 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000459187 A0A075B6G3 DMD Dystrophin gnomAD rs1448085412 Xp21.1 X 32849760C> A null D Y 52 52 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626231 [ClinVar]: Duchenne muscular dystrophy pubmed:31671740,pubmed:8401582 Xp21.1 X 32849753A> C null L R 54 54 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011979 A0A075B6G3 DMD Dystrophin dbSNP rs1603448406 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32849751C> T null E K 55 55 missense 0.818 possibly damaging 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000823504 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044431 Xp21.1 X 32849744A> G null L P 57 57 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044431 Xp21.1 X 32849744A> C null L R 57 57 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1057518834 [ClinVar]: Myopathy, [ClinVar]: Clubfoot Xp21.1 X 32849739de l null Q null 60 60 frameshift 0 Clubfoot Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i. MIM:119800 ClinVar:RCV001196241 A0A075B6G3 DMD Dystrophin dbSNP rs1057518834 [ClinVar]: Myopathy, [ClinVar]: Clubfoot Xp21.1 X 32849739de l null Q null 60 60 frameshift 0 Hemihypertrophy ClinVar:RCV001196241 A0A075B6G3 DMD Dystrophin dbSNP rs1057518834 [ClinVar]: Myopathy, [ClinVar]: Clubfoot Xp21.1 X 32849739de l null Q null 60 60 frameshift 0 Iron deficiency anemia ClinVar:RCV001196241 A0A075B6G3 DMD Dystrophin dbSNP rs1057518834 [ClinVar]: Myopathy, [ClinVar]: Clubfoot Xp21.1 X 32849739de l null Q null 60 60 frameshift 0 Macrocephalus ClinVar:RCV001196241 A0A075B6G3 DMD Dystrophin dbSNP rs1057518834 [ClinVar]: Myopathy, [ClinVar]: Clubfoot Xp21.1 X 32849739de l null Q null 60 60 frameshift 0 Myopathy ClinVar:RCV000414800,ClinVar:RCV001196241 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626233 [ClinVar]: Duchenne muscular dystrophy pubmed:7951253 Xp21.1 X 32849736G> A null Q * 60 60 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011990 A0A075B6G3 DMD Dystrophin dbSNP rs886043288 Xp21.1 X 32849737_32849741du p null K null 61 61 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1183396783 Xp21.1 X 32844859G> C null P R 63 63 missense 0.729 possibly damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1386946939 Xp21.1 X 32844860G> A null P S 63 63 missense 0.194 benign 0.46 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1482045034 Xp21.1 X 32844856T> G null K T 64 64 missense 0.858 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1236571983 Xp21.1 X 32844852T> G null E D 65 65 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603447072 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32844851T> A null K * 66 66 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990758 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764523904 Xp21.1 X 32844850T> G null K T 66 66 missense 0.933 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123871 Xp21.1 X 32844848C> A null G * 67 67 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770415559 Xp21.1 X 32844822G> C null N K 75 75 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042956 Xp21.1 X 32844817A> T null V D 77 77 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557079469 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32844810du p null A null 80 80 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000460770 A0A075B6G3 DMD Dystrophin TOPMed rs1217911765 Xp21.1 X 32844809C> T null A T 80 80 missense 0.87 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1378678678 Xp21.1 X 32844805A> T null L Q 81 81 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1228664222 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32844802C> G null R P 82 82 missense 0.239 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000698008 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1228664222 cosmic curated [ClinVar]: Dilated cardiomyopathy 3B, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Duchenne muscular dystrophy pubmed:24325359,cosmic_study:562 Xp21.1 X 32844802C> T null R Q 82 82 missense 0.0 benign 1.0 tolerated 1 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168875 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1228664222 cosmic curated [ClinVar]: Dilated cardiomyopathy 3B, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Duchenne muscular dystrophy pubmed:24325359,cosmic_study:562 Xp21.1 X 32844802C> T null R Q 82 82 missense 0.0 benign 1.0 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000919903 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs772546251 Xp21.1 X 32844803G> A null R W 82 82 missense 0.658 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1358774744 Xp21.1 X 32844800C> A null V F 83 83 missense 0.527 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1358774744 Xp21.1 X 32844800C> T null V I 83 83 missense 0.094 benign 0.24 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626234 [ClinVar]: Duchenne muscular dystrophy pubmed:7951253 Xp21.1 X 32844794G> A null Q * 85 85 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011972 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1297662991 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32844793T> C null Q R 85 85 missense 0.877 possibly damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000693610 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1452900149 Xp21.1 X 32844787T> C null N S 87 87 missense 0.255 benign 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769800814 Xp21.1 X 32844785T> A null N Y 88 88 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603447057 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32844783_32844784du p null V null 89 89 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990757 A0A075B6G3 DMD Dystrophin dbSNP rs1557058441 Xp21.1 X 32823386A> G null V A 89 89 missense 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557058441 Xp21.1 X 32823386A> T null V D 89 89 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1334376403 Xp21.1 X 32823387C> T null V I 89 89 missense 0.192 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569529172 Xp21.1 X 32823377A> G null V A 92 92 missense 0.817 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1211544333 Xp21.1 X 32823378C> T null V M 92 92 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs398123907 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32823375T> C null N D 93 93 missense 0.999 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001069789 A0A075B6G3 DMD Dystrophin dbSNP rs863224990 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32823372de l null I null 94 94 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201106 A0A075B6G3 DMD Dystrophin dbSNP rs863224991 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32823371du p null G null 95 95 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201042 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557058415 Xp21.1 X 32823369C> A null G * 95 95 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1381812538 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32823368C> A null G V 95 95 missense 0.999 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000552068 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569529162 Xp21.1 X 32823365C> T null S N 96 96 missense 0.379 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557058403 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32823363T> C null T A 97 97 missense 0.001 benign 0.22 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000559931 A0A075B6G3 DMD Dystrophin dbSNP rs1603441550 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32823348_32823360de l null D null 98 98 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000804270 A0A075B6G3 DMD Dystrophin dbSNP rs797044756 Xp21.1 X 32823361du p null D * 98 98 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs772375271 Xp21.1 X 32823359T> C null D G 98 98 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs149428656 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32823357T> C null I V 99 99 2.65E-4 missense 0.996 probably damaging 0.0 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000515266 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs149428656 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32823357T> C null I V 99 99 2.65E-4 missense 0.996 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000515266 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs149428656 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32823357T> C null I V 99 99 2.65E-4 missense 0.996 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000515266,ClinVar:RCV000630541 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs779099343 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32823354C> T null V I 100 100 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs758497340 Xp21.1 X 32823351C> T null D N 101 101 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1263846042 Xp21.1 X 32823348C> T null G R 102 102 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1299286244 Xp21.1 X 32823345T> C null N D 103 103 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs757270951 Xp21.1 X 32823342G> T null H N 104 104 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123928 Xp21.1 X 32823338T> A null K I 105 105 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1370182967 Xp21.1 X 32823337T> G null K N 105 105 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557058353 Xp21.1 X 32823333du p null T null 107 107 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557058350 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32823329A> G null L P 108 108 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630561 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1048652498 Xp21.1 X 32823326C> G null G A 109 109 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1048652498 Xp21.1 X 32823326C> T null G D 109 109 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502658 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32823327C> G null G R 109 109 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000464588 A0A075B6G3 DMD Dystrophin dbSNP rs1603441549 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32823320A> T null I N 111 111 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990754 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123936 Xp21.1 X 32823316C> T null W * 112 112 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557058336 Xp21.1 X 32823314T> C null N S 113 113 missense 0.007 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs796935163 Xp21.1 X 32823309T> C null I V 115 115 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1263398922 Xp21.1 X 32823301G> C null H Q 117 117 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044589 Xp21.1 X 32823300A> G null W R 118 118 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557058308 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32823296de l null Q null 119 119 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630567 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224995 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32823297G> A null Q * 119 119 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201060 A0A075B6G3 DMD Dystrophin gnomAD rs1438385000 Xp21.1 X 32816636T> C null K R 121 121 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557052797 Xp21.1 X 32816637de l null N null 122 122 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603437369 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32816633T> G null N T 122 122 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000810239 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs757220688 Xp21.1 X 32816631C> T null V I 123 123 missense 0.427 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs749399146 Xp21.1 X 32816627A> G null M T 124 124 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1188705437 Xp21.1 X 32816628T> C null M V 124 124 missense 0.579 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs777958392 Xp21.1 X 32816624T> A null K I 125 125 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569528138 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32816625du p null N null 126 126 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000791745 A0A075B6G3 DMD Dystrophin dbSNP rs1569528138 [ClinVar]: Duchenne muscular dystrophy pubmed:12673664 Xp21.1 X 32816625de l null N null 126 126 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012035 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756725662 Xp21.1 X 32816622T> C null N D 126 126 missense 0.001 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1185901766 Xp21.1 X 32816621T> C null N S 126 126 missense 0.03 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs748643562 Xp21.1 X 32816619T> C null I V 127 127 missense 0.163 benign 0.62 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1158750632 Xp21.1 X 32816614C> T null M I 128 128 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1085307548 Xp21.1 X 32816613C> T null A T 129 129 missense 0.764 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs781661684 Xp21.1 X 32816609C> T null G E 130 130 missense 0.64 possibly damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs751455994 [ClinVar]: Hypertrophic cardiomyopathy Xp21.1 X 32816603T> C null Q R 132 132 missense 0.999 probably damaging 0.0 deleterious 0 Hypertrophic cardiomyopathy ClinVar:RCV000999601 A0A075B6G3 DMD Dystrophin TOPMed rs1422155550 Xp21.1 X 32816601G> C null Q E 133 133 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1358899513 Xp21.1 X 32816599T> A null Q H 133 133 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1800256 Xp21.1 X 32816600T> G null Q P 133 133 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751881330 Xp21.1 X 32816595T> C null N D 135 135 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs764808552 Xp21.1 X 32816594T> C null N S 135 135 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123949 Xp21.1 X 32816587_32816588de l null K null 138 138 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727795 Xp21.1 X 32816571_32816584de l null I null 139 139 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557052675 Xp21.1 X 32816579A> C null L R 140 140 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1478425443 Xp21.1 X 32816580G> C null L V 140 140 missense 0.997 probably damaging 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1010307830 Xp21.1 X 32816574T> A null S C 142 142 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs753380259 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp21.1 X 32816572G> C null S R 142 142 missense 0.992 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763567086 Xp21.1 X 32816569C> A null W C 143 143 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1452761489 Xp21.1 X 32816570C> A null W L 143 143 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs128626235 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:7951253 Xp21.1 X 32816565G> A null R * 145 145 2.65E-4 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011976 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs398123952 Xp21.1 X 32816564C> A null R L 145 145 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs398123952 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32816564C> G null R P 145 145 missense 0.997 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001237927 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs398123952 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32816564C> T null R Q 145 145 missense 0.986 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001246596 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs377054762 Xp21.1 X 32816555G> A null T I 148 148 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603437272 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32816554de l null R null 149 149 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990753 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs774139970 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32816553G> A null R C 149 149 missense 0.989 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000797831 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs771307588 cosmic curated [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp21.1 X 32816552C> T null R H 149 149 missense 0.976 probably damaging 0.01 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001239521 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs774139970 Xp21.1 X 32816553G> T null R S 149 149 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1341299449 Xp21.1 X 32816550T> G null N H 150 150 missense 0.009 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603437254 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32816545A> C null Y * 151 151 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990752 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042983 Xp21.1 X 32816541G> A null Q * 153 153 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749488822 Xp21.1 X 32816540T> C null Q R 153 153 missense 0.212 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1257684533 Xp21.1 X 32816535T> C null N D 155 155 missense 0.206 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557052599 Xp21.1 X 32816530delinsC C null I null 157 157 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1445172305 Xp21.1 X 32816527G> C null I M 157 157 missense 0.082 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773473691 Xp21.1 X 32816529T> C null I V 157 157 missense 0.0 benign 0.48 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1324314201 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32816524G> T null N K 158 158 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990751 A0A075B6G3 DMD Dystrophin dbSNP rs1557052560 Xp21.1 X 32816519_32816520insG T null T null 160 160 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs748752465 Xp21.1 X 32816519G> A null T I 160 160 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs748752465 Xp21.1 X 32816519G> T null T N 160 160 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123967 Xp21.1 X 32816520T> G null T P 160 160 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569528101 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32816516_32816518GTG[1 ] null T null 161 161 inframe deletion 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000693881 A0A075B6G3 DMD Dystrophin Ensembl rs891531597 Xp21.1 X 32816516G> A null T I 161 161 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123970 Xp21.1 X 32816509C> T null W * 163 163 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1032789493 Xp21.1 X 32816507G> C null S C 164 164 missense 0.731 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557052542 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32816504T> A null D V 165 165 missense 0.998 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630564 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569528100 Xp21.1 X 32816505C> A null D Y 165 165 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557052538 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32816501C> A null G V 166 166 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000517210 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626236 [ClinVar]: Becker muscular dystrophy pubmed:7951253 Xp21.1 X 32816495G> T null A D 168 168 missense 1.0 probably damaging 0.0 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000011981 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs755452188 Xp21.1 X 32816487C> G null A P 171 171 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs755452188 Xp21.1 X 32816487C> T null A T 171 171 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs747353479 Xp21.1 X 32816484G> C null L V 172 172 missense 0.369 benign 0.59 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1397634648 Xp21.1 X 32816481T> C null I V 173 173 missense 0.094 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569528090 Xp21.1 X 32816476_32816477de l null H null 174 174 frameshift 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC rs763513615 Xp21.1 X 32816477T> C null H R 174 174 2.65E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1326333403 Xp21.1 X 32816475T> C null S G 175 175 missense 0.132 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,gnomAD rs141028860 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417,cosmic_study:419 Xp21.1 X 32816472G> T null H N 176 176 missense 0.951 probably damaging 0.01 deleterious 1 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123989 Xp21.1 X 32809610G> A null P S 178 178 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs116605349 Xp21.1 X 32809605G> T null D E 179 179 2.65E-4 missense 0.0 benign 0.5 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs796065333 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32809595du p null W null 183 183 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001236971 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777407984 Xp21.1 X 32809595A> G null W R 183 183 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1331056348 Xp21.1 X 32809591T> C null N S 184 184 missense 0.001 benign 0.39 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1168876204 Xp21.1 X 32809588C> T null S N 185 185 missense 0.001 benign 0.29 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1168876204 Xp21.1 X 32809588C> G null S T 185 185 missense 0.034 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs752172763 Xp21.1 X 32809586C> T null V M 186 186 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs780719857 Xp21.1 X 32809583C> T null V I 187 187 missense 0.0 benign 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557047949 Xp21.1 X 32809580A> C null C G 188 188 missense 0.0 benign 0.4 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751528345 Xp21.1 X 32809578G> C null C W 188 188 missense 0.525 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727861 Xp21.1 X 32809577G> A null Q * 189 189 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed rs1330849596 cosmic curated [Cosmic]: endometrium cosmic_study:419 Xp21.1 X 32809575C> G null Q H 189 189 missense 0.995 probably damaging 0.02 deleterious 1 A0A075B6G3 DMD Dystrophin Ensembl rs1569526563 Xp21.1 X 32809573T> C null Q R 190 190 missense 0.039 benign 0.5 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727863 Xp21.1 X 32809570G> C null S * 191 191 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727863 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32809570G> T null S * 191 191 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990750 A0A075B6G3 DMD Dystrophin TOPMed rs1407195406 Xp21.1 X 32809565T> C null T A 193 193 missense 0.0 benign 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1393235494 Xp21.1 X 32809564G> A null T I 193 193 missense 0.001 benign 0.85 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1458091604 Xp21.1 X 32809561T> C null Q R 194 194 missense 0.133 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123999 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32809559G> A null R * 195 195 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000179875 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1340365803 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32809553C> A null E * 197 197 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990749 A0A075B6G3 DMD Dystrophin TOPMed rs1340365803 Xp21.1 X 32809553C> T null E K 197 197 missense 0.481 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs766597855 Xp21.1 X 32809549T> C null H R 198 198 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557047884 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32809546G> T null A E 199 199 missense 0.996 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630505 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502660 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32809547C> G null A P 199 199 missense 0.997 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000473626 A0A075B6G3 DMD Dystrophin dbSNP rs1557047875 Xp21.1 X 32809547_32809550du p null F null 200 200 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed rs1030277417 Xp21.1 X 32809540T> A null N I 201 201 missense 0.895 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs750180929 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 Xp21.1 X 32809539G> T null N K 201 201 missense 0.56 possibly damaging 0.07 tolerated 1 A0A075B6G3 DMD Dystrophin gnomAD rs1220485962 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 Xp21.1 X 32809535C> T null A T 203 203 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs398124004 Xp21.1 X 32809527A> T null Y * 205 205 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762052455 Xp21.1 X 32809529A> G null Y H 205 205 missense 0.001 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603432076 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32809526G> A null Q * 206 206 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000816839 A0A075B6G3 DMD Dystrophin Ensembl rs994260472 Xp21.1 X 32809525T> A null Q L 206 206 missense 0.022 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727862 Xp21.1 X 32809515de l null I null 209 209 frameshift 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs372832497 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32809516A> G null I T 209 209 missense 0.911 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168874 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs372832497 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32809516A> G null I T 209 209 missense 0.911 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000696155 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761147409 Xp21.1 X 32809517T> C null I V 209 209 missense 0.035 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs772502525 Xp21.1 X 32809512C> G null E D 210 210 missense 0.05 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557047827 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32809512de l null K null 211 211 frameshift 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000584217 A0A075B6G3 DMD Dystrophin dbSNP rs1557047827 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32809512de l null K null 211 211 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000582935 A0A075B6G3 DMD Dystrophin dbSNP rs1603432059 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32809506_32809507du p null L null 213 213 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990748 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs876657781 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32809502C> T null D N 214 214 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1085307594 Xp21.1 X 32699291C> T null V I 218 218 missense 0.262 benign 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556930839 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699287du p null D null 219 219 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630554 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771312947 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699286A> T null D E 219 219 missense 0.0 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000704007 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747821055 Xp21.1 X 32699285T> C null T A 220 220 missense 0.014 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1292474583 Xp21.1 X 32699284G> T null T N 220 220 missense 0.686 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603151699 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699277A> C null Y * 222 222 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990747 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC rs201753859 Xp21.1 X 32699275G> A null P L 223 223 2.65E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398124034 Xp21.1 X 32699265_32699267CTT[1 ] null K null 226 226 inframe deletion 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs746536387 Xp21.1 X 32699263G> C null S C 227 227 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs746536387 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699263G> A null S F 227 227 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000797670 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886043430 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699260A> T null I N 228 228 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000817636 A0A075B6G3 DMD Dystrophin TOPMed rs904314683 Xp21.1 X 32699261T> C null I V 228 228 missense 0.739 possibly damaging 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556930769 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699257A> C null L * 229 229 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000530700 A0A075B6G3 DMD Dystrophin dbSNP rs374222301 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699250G> C null Y * 231 231 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990746 A0A075B6G3 DMD Dystrophin Ensembl rs113412324 Xp21.1 X 32699251T> C null Y C 231 231 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626237 [ClinVar]: Becker muscular dystrophy pubmed:7951253 Xp21.1 X 32699252A> T null Y N 231 231 missense 1.0 probably damaging 0.0 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000011992 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs758447768 Xp21.1 X 32699249T> G null I L 232 232 missense 0.005 benign 0.63 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs145668843 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699247G> C null I M 232 232 missense 0.505 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001083738 A0A075B6G3 DMD Dystrophin gnomAD rs1429767974 Xp21.1 X 32699246T> C null T A 233 233 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1343163306 Xp21.1 X 32699245G> A null T I 233 233 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569469298 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699242_32699246GATGT[3 ] null L null 235 235 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000697118 A0A075B6G3 DMD Dystrophin 1000Genomes,dbSNP rs200177107 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32699240G> T null L I 235 235 2.65E-4 missense 0.999 probably damaging 0.0 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000415689 A0A075B6G3 DMD Dystrophin 1000Genomes,dbSNP rs200177107 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32699240G> T null L I 235 235 2.65E-4 missense 0.999 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000415632 A0A075B6G3 DMD Dystrophin 1000Genomes,dbSNP rs200177107 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32699240G> T null L I 235 235 2.65E-4 missense 0.999 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000415666 A0A075B6G3 DMD Dystrophin dbSNP rs1603150993 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699235de l null Q null 237 237 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990745 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP rs778632674 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699232T> G null Q H 237 237 missense 0.957 probably damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001215191 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed rs778632674 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32699232T> A null Q H 237 237 missense 0.957 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1222379202 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32699226C> A null L F 239 239 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1166850826 Xp21.1 X 32699224G> A null P L 240 240 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs128626238 [ClinVar]: Duchenne muscular dystrophy pubmed:1307253,pubmed:8160755 Xp21.1 X 32699219G> A null Q * 242 242 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011993 A0A075B6G3 DMD Dystrophin gnomAD rs128626238 Xp21.1 X 32699219G> C null Q E 242 242 missense 0.08 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1170744781 Xp21.1 X 32699217T> G null Q H 242 242 missense 0.044 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1170744781 Xp21.1 X 32699217T> A null Q H 242 242 missense 0.044 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1360716639 Xp21.1 X 32699218T> C null Q R 242 242 missense 0.589 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs753509616 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699215A> G null V A 243 243 missense 0.989 probably damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001085960 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs751368412 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 Xp21.1 X 32699212C> T null S N 244 244 missense 0.254 benign 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630520 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs140510985 Xp21.1 X 32699210T> A null I F 245 245 missense 0.345 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1234861163 Xp21.1 X 32699209A> G null I T 245 245 missense 0.42 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs140510985 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699210T> C null I V 245 245 missense 0.013 benign 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630494 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs767559999 Xp21.1 X 32699203G> C null A G 247 247 missense 0.373 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1468818043 Xp21.1 X 32699204C> T null A T 247 247 missense 0.476 possibly damaging 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1212242832 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699197T> C null Q R 249 249 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000819583 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs128626239 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung cosmic_study:417,pubmed:7951253 Xp21.1 X 32699195C> A null E * 250 250 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011994 A0A075B6G3 DMD Dystrophin gnomAD rs1334403814 Xp21.1 X 32699191A> G null V A 251 251 missense 0.82 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1334403814 Xp21.1 X 32699191A> C null V G 251 251 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC rs760091475 Xp21.1 X 32699182A> C null L W 254 254 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1220531253 Xp21.1 X 32699176C> T null R K 256 256 missense 0.259 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1305908922 Xp21.1 X 32699174G> A null P S 257 257 missense 0.003 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs773066825 Xp21.1 X 32699171G> A null P S 258 258 2.65E-4 missense 0.0 benign 0.35 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs773066825 Xp21.1 X 32699171G> T null P T 258 258 2.65E-4 missense 0.0 benign 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569469138 Xp21.1 X 32699167_32699168de l null K null 259 259 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603150335 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699169du p null K * 259 259 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990744 A0A075B6G3 DMD Dystrophin TOPMed rs1055397247 Xp21.1 X 32699165C> T null V M 260 260 missense 0.393 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763389880 Xp21.1 X 32699158T> C null K R 262 262 missense 0.0 benign 0.57 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1438501472 Xp21.1 X 32699149T> C null H R 265 265 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1393257981 Xp21.1 X 32699147A> T null F I 266 266 missense 0.001 benign 0.8 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs878854383 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32699144G> A null Q * 267 267 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990743 A0A075B6G3 DMD Dystrophin TOPMed rs939491009 Xp21.1 X 32699140A> G null L S 268 268 missense 0.149 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1800264 Xp21.1 X 32699141A> C null L V 268 268 0.009536 missense 0.025 benign 0.9 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs746626486 Xp21.1 X 32699138G> C null H D 269 269 missense 0.205 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1038213947 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699136A> T null H Q 269 269 missense 0.02 benign 0.58 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000793012 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs746626486 Xp21.1 X 32699138G> A null H Y 269 269 missense 0.011 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775190742 Xp21.1 X 32699134T> C null H R 270 270 missense 0.0 benign 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1169160513 Xp21.1 X 32699135G> A null H Y 270 270 missense 0.003 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs771696085 Xp21.1 X 32699125T> G null H P 273 273 missense 0.574 possibly damaging 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs771696085 Xp21.1 X 32699125T> C null H R 273 273 missense 0.007 benign 0.88 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603149954 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699121A> T null Y * 274 274 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990741 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs745868830 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32699122T> C null Y C 274 274 missense 0.77 possibly damaging 0.04 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990742 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778915156 Xp21.1 X 32699119G> T null S Y 275 275 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398124067 Xp21.1 X 32699112C> A null Q H 277 277 missense 0.222 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs888736074 Xp21.1 X 32697997A> T null I N 278 278 missense 0.474 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs779964937 Xp21.1 X 32697998T> C null I V 278 278 missense 0.003 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128627255 [ClinVar]: Dilated cardiomyopathy 3B pubmed:9170407 Xp21.1 X 32697995T> C null T A 279 279 missense 0.237 benign 0.19 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000012030 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs369135184 Xp21.1 X 32697994G> A null T M 279 279 missense 0.975 probably damaging 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs369135184 Xp21.1 X 32697994G> C null T R 279 279 missense 0.957 probably damaging 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603137168 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697991de l null V null 280 280 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990740 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1160682035 Xp21.1 X 32697991A> T null V D 280 280 missense 0.786 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs762274027 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697988C> G null S T 281 281 missense 0.003 benign 0.08 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000803894 A0A075B6G3 DMD Dystrophin gnomAD rs1188593868 Xp21.1 X 32697986G> T null L I 282 282 missense 0.132 benign 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs754197682 Xp21.1 X 32697982G> A null A V 283 283 missense 0.79 possibly damaging 0.35 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1287538917 Xp21.1 X 32697977C> T null G R 285 285 missense 0.408 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556929259 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697973du p null Y * 286 286 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630517 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1187274831 Xp21.1 X 32697974A> G null Y H 286 286 missense 0.001 benign 0.58 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1187274831 Xp21.1 X 32697974A> T null Y N 286 286 missense 0.098 benign 0.35 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1485322486 Xp21.1 X 32697970T> G null E A 287 287 missense 0.067 benign 0.72 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs767304770 Xp21.1 X 32697967C> A null R I 288 288 missense 0.06 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs767304770 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697967C> G null R T 288 288 missense 0.082 benign 0.21 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001078515 A0A075B6G3 DMD Dystrophin gnomAD rs1238247954 Xp21.1 X 32697964G> C null T S 289 289 missense 0.028 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs915965687 Xp21.1 X 32697955G> C null P R 292 292 missense 0.549 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs960307751 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697953T> C null K E 293 293 missense 0.079 benign 0.26 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630563 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs188694739 Xp21.1 X 32697950G> A null P S 294 294 2.65E-4 missense 0.979 probably damaging 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs727503864 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697947G> A null R * 295 295 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001041065 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs377587957 Xp21.1 X 32697946C> A null R L 295 295 missense 0.278 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs377587957 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697946C> T null R Q 295 295 missense 0.235 benign 0.05 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001086130 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569467457 [ClinVar]: Arrhythmogenic right ventricular cardiomyopathy Xp21.1 X 32697939C> A null K N 297 297 missense 0.969 probably damaging 0.01 deleterious 0 Arrhythmogenic right ventricular cardiomyopathy (ARVD) Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. MIM:PS107970 pubmed:20301310,pubmed:21810866,ClinVar:RCV000852584 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770327594 Xp21.1 X 32697937C> G null S T 298 298 missense 0.932 probably damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs968551535 Xp21.1 X 32697935A> G null Y H 299 299 missense 0.986 probably damaging 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs769658853 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697928T> C null Y C 301 301 missense 0.804 possibly damaging 0.08 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001231225 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773135408 Xp21.1 X 32697929A> T null Y N 301 301 missense 0.753 possibly damaging 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1419118040 Xp21.1 X 32697925G> A null T I 302 302 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1384774736 Xp21.1 X 32697926T> A null T S 302 302 missense 0.835 possibly damaging 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs769389263 Xp21.1 X 32697923G> C null Q E 303 303 missense 0.007 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs747955761 Xp21.1 X 32697921C> A null Q H 303 303 missense 0.599 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs780924717 Xp21.1 X 32697920C> G null A P 304 304 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs768905865 Xp21.1 X 32697917C> A null A S 305 305 missense 0.954 probably damaging 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044188 Xp21.1 X 32697916G> A null A V 305 305 missense 0.55 possibly damaging 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,dbSNP rs149106712 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697912A> T null Y * 306 306 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000697322 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145064612 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697907G> A null T I 308 308 missense 0.06 benign 0.12 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000464733 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145064612 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697907G> T null T N 308 308 missense 0.088 benign 0.27 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001057556 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145064612 Xp21.1 X 32697907G> C null T S 308 308 missense 0.0 benign 0.4 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1164332102 Xp21.1 X 32697904G> A null T I 309 309 missense 0.209 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1195323381 Xp21.1 X 32697897G> T null D E 311 311 missense 0.003 benign 0.57 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs760932600 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697898T> C null D G 311 311 5.3E-4 missense 0.12 benign 0.18 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001088868 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs760932600 Xp21.1 X 32697898T> A null D V 311 311 5.3E-4 missense 0.127 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1351450783 Xp21.1 X 32697895G> C null P R 312 312 missense 0.088 benign 0.54 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs201799335 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697892G> A null T I 313 313 missense 0.054 benign 0.06 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000532829 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs764526102 Xp21.1 X 32697890G> C null R G 314 314 missense 0.0 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751164104 Xp21.1 X 32697889C> A null R L 314 314 missense 0.009 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs751164104 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32697889C> T null R Q 314 314 missense 0.005 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs764526102 Xp21.1 X 32697890G> A null R W 314 314 missense 0.655 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569467334 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32697883G> A null P L 316 316 missense 0.001 benign 0.34 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000707039 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs765986138 [ClinVar]: Dilated cardiomyopathy 3B Xp21.1 X 32697874G> A null S L 319 319 missense 0.003 benign 0.26 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168122 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762379765 Xp21.1 X 32697872G> C null Q E 320 320 missense 0.038 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs772656026 Xp21.1 X 32697870C> A null Q H 320 320 missense 0.694 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1174264201 Xp21.1 X 32645151T> C null H R 321 321 missense 0.001 benign 0.35 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs774626343 Xp21.1 X 32645144T> A null E D 323 323 missense 0.038 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs746060886 Xp21.1 X 32645146C> T null E K 323 323 missense 0.001 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602469251 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645142de l null A null 324 324 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990738 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749880195 Xp21.1 X 32645142G> T null A D 324 324 missense 0.006 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs771123625 Xp21.1 X 32645143C> A null A S 324 324 missense 0.0 benign 0.56 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749880195 Xp21.1 X 32645142G> A null A V 324 324 missense 0.001 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1017929989 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645132G> C null D E 327 327 missense 0.006 benign 0.68 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001037633 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1278090805 Xp21.1 X 32645129C> A null K N 328 328 missense 0.433 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs924068542 Xp21.1 X 32645131T> G null K Q 328 328 missense 0.358 benign 0.46 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs756590471 Xp21.1 X 32645128A> T null S T 329 329 missense 0.06 benign 0.64 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs777295040 Xp21.1 X 32645124A> G null F S 330 330 missense 0.001 benign 0.47 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602468968 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645115G> T null S * 333 333 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990737 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1280415176 [ClinVar]: Becker muscular dystrophy Xp21.1 X 32645113A> T null L M 334 334 missense 0.197 benign 0.05 tolerated 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000625768 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs540761988 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645109A> G null M T 335 335 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000871960 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1057522454 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645107C> A null E * 336 336 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000698005 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1057522454 Xp21.1 X 32645107C> T null E K 336 336 missense 0.856 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123829 Xp21.1 X 32645102A> C null S R 337 337 missense 0.078 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123830 Xp21.1 X 32645101C> A null E * 338 338 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs758035070 Xp21.1 X 32645099T> G null E D 338 338 missense 0.009 benign 0.63 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886044093 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645098C> T null V I 339 339 missense 0.007 benign 0.44 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630531 A0A075B6G3 DMD Dystrophin gnomAD rs1277939640 Xp21.1 X 32645091A> T null L Q 341 341 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA rs758235387 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:21720365,cosmic_study:331 Xp21.1 X 32645089C> T null D N 342 342 missense 0.169 benign 0.04 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778460564 Xp21.1 X 32645086G> A null R C 343 343 missense 0.282 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs61733589 NCI-TCGA Cosmic [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 32645085C> T null R H 343 343 5.3E-4 missense 0.147 benign 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001082016 A0A075B6G3 DMD Dystrophin gnomAD rs1436551211 Xp21.1 X 32645073G> A null A V 347 347 missense 0.068 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1044325754 Xp21.1 X 32645066T> A null E D 349 349 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1044325754 Xp21.1 X 32645066T> G null E D 349 349 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556876421 Xp21.1 X 32645067du p null E null 350 350 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123840 Xp21.1 X 32645065C> A null E * 350 350 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1373509520 Xp21.1 X 32645062C> T null V I 351 351 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs374713915 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32645055G> A null S L 353 353 missense 0.216 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001242280 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs753289586 Xp21.1 X 32645056A> G null S P 353 353 missense 0.596 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569376447 Xp21.1 X 32645051C> T null W * 354 354 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502644 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645052C> T null W * 354 354 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000475363 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs199981454 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645047G> A null L F 356 356 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000473119 A0A075B6G3 DMD Dystrophin dbSNP rs794726994 Xp21.1 X 32645043de l null S null 357 357 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1311686543 Xp21.1 X 32645040G> A null A V 358 358 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556876346 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645038C> A null E * 359 359 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630548 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556876337 Xp21.1 X 32645034T> A null D V 360 360 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs946816277 Xp21.1 X 32645031G> T null T K 361 361 missense 0.415 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759898408 Xp21.1 X 32645028A> G null L S 362 362 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794726993 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32645020G> A null Q * 365 365 stop gained 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000984160 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794726993 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32645020G> A null Q * 365 365 stop gained 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000984161 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794726993 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32645020G> A null Q * 365 365 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000984162 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794726993 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645020G> C null Q E 365 365 missense 0.366 benign 0.09 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000692756 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800266 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645018T> G null Q H 365 365 missense 0.878 possibly damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168120 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800266 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645018T> G null Q H 365 365 missense 0.878 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000458417 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1216968523 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645019T> C null Q R 365 365 missense 0.065 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000537597 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs763144501 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32645016C> T null G E 366 366 missense 0.028 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000689766 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763144501 Xp21.1 X 32645016C> A null G V 366 366 missense 0.674 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1335517714 Xp21.1 X 32645005T> G null N H 370 370 missense 0.473 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs773299186 Xp21.1 X 32645004T> A null N I 370 370 missense 0.301 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770239678 Xp21.1 X 32645001T> C null D G 371 371 missense 0.069 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1335692830 Xp21.1 X 32645002C> T null D N 371 371 missense 0.041 benign 0.24 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs747254030 Xp21.1 X 32644999C> T null V M 372 372 5.3E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs781466460 Xp21.1 X 32644992A> T null V E 374 374 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs886044624 Xp21.1 X 32644987du p null D null 377 377 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602467787 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644984de l null D null 377 377 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990735 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs747305466 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644982G> C null D E 377 377 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000934148 A0A075B6G3 DMD Dystrophin gnomAD rs1431385904 Xp21.1 X 32644984C> T null D N 377 377 missense 0.088 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556876203 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644981G> C null Q E 378 378 missense 0.999 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001236891 A0A075B6G3 DMD Dystrophin 1000Genomes,gnomAD rs777947212 Xp21.1 X 32644979C> A null Q H 378 378 2.65E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556876185 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644974T> C null H R 380 380 missense 0.947 probably damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000526092 A0A075B6G3 DMD Dystrophin Ensembl rs1569375995 Xp21.1 X 32644975G> A null H Y 380 380 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602467590 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644969de l null H null 382 382 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990734 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556876180 Xp21.1 X 32644969G> A null H Y 382 382 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602467530 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32644966C> A null E * 383 383 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990733 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1367437529 Xp21.1 X 32644313C> A null G W 384 384 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs746169492 Xp21.1 X 32644303A> G null M T 387 387 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs770202940 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644304T> C null M V 387 387 missense 0.907 possibly damaging 0.26 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000229822 A0A075B6G3 DMD Dystrophin gnomAD rs1255281286 Xp21.1 X 32644299A> T null D E 388 388 missense 0.011 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1454929812 Xp21.1 X 32644301C> A null D Y 388 388 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1430827339 Xp21.1 X 32644289G> A null H Y 392 392 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769095696 Xp21.1 X 32644285T> C null Q R 393 393 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747399187 Xp21.1 X 32644282C> A null G V 394 394 missense 0.875 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs780356433 Xp21.1 X 32644280G> C null R G 395 395 missense 0.043 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs148511512 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644279C> T null R Q 395 395 0.00106 missense 0.01 benign 0.03 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168119 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs148511512 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644279C> T null R Q 395 395 0.00106 missense 0.01 benign 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001084014 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs780356433 cosmic curated [Cosmic]: breast, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 Xp21.1 X 32644280G> A null R W 395 395 missense 0.0 benign 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001213160 A0A075B6G3 DMD Dystrophin gnomAD rs1293279118 Xp21.1 X 32644277C> A null V F 396 396 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs748950988 Xp21.1 X 32644273C> A null G V 397 397 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC rs398123851 Xp21.1 X 32644252C> A null S I 404 404 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC rs398123851 Xp21.1 X 32644252C> G null S T 404 404 missense 0.321 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs781297201 Xp21.1 X 32644249T> G null K T 405 405 missense 0.001 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569374104 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644247G> C null L V 406 406 missense 0.494 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000694407 A0A075B6G3 DMD Dystrophin TOPMed rs200637510 Xp21.1 X 32644243A> G null I T 407 407 missense 0.415 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1463021278 Xp21.1 X 32644244T> C null I V 407 407 missense 0.009 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs867609910 Xp21.1 X 32644237G> A null T I 409 409 missense 0.023 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34155804 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644238T> A null T S 409 409 0.008477 missense 0.001 benign 0.1 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000392921 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34155804 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644238T> A null T S 409 409 0.008477 missense 0.001 benign 0.1 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001082086 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34155804 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Hypertrophic cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644238T> A null T S 409 409 0.008477 missense 0.001 benign 0.1 tolerated 0 Hypertrophic cardiomyopathy ClinVar:RCV000853048 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367774853 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32644220C> T null D N 415 415 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs876657777 Xp21.1 X 32644215T> A null E D 416 416 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057515877 [ClinVar]: Dilated cardiomyopathy 3B Xp21.1 X 32644214C> G null E Q 417 417 missense 0.995 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000346700 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs201341211 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644211T> A null T S 418 418 missense 0.0 benign 0.89 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001088321 A0A075B6G3 DMD Dystrophin dbSNP rs1602460062 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644208_32644209du p null E null 419 419 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000801513 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1220963408 Xp21.1 X 32644208C> A null E * 419 419 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs750653819 Xp21.1 X 32644206T> G null E D 419 419 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1220963408 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 Xp21.1 X 32644208C> T null E K 419 419 missense 0.979 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin dbSNP rs1602459951 Xp21.1 X 32644204du p null Q null 421 421 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs398123852 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644202G> A null Q * 421 421 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000174090 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs398123852 Xp21.1 X 32644202G> C null Q E 421 421 missense 0.373 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1246251056 Xp21.1 X 32644199C> G null E Q 422 422 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602459861 Xp21.1 X 32644193de l null Q * 423 424 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569373686 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644191C> T null M I 424 424 missense 0.991 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000702239 A0A075B6G3 DMD Dystrophin gnomAD rs1369670784 Xp21.1 X 32644192A> T null M K 424 424 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1449136689 Xp21.1 X 32644189T> C null N S 425 425 missense 0.014 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC rs761964562 Xp21.1 X 32644190T> A null N Y 425 425 missense 0.575 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs776526314 Xp21.1 X 32644187G> A null L F 426 426 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556875254 Xp21.1 X 32644183A> G null L P 427 427 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs398123853 Xp21.1 X 32644177G> C null S * 429 429 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs398123853 Xp21.1 X 32644177G> T null S * 429 429 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs398123853 Xp21.1 X 32644177G> A null S L 429 429 missense 0.743 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886041802 Xp21.1 X 32644175T> A null R * 430 430 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761140140 Xp21.1 X 32644174C> G null R T 430 430 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556875224 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32644171C> T null W * 431 431 stop gained 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV001254066 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556875224 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32644171C> T null W * 431 431 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630516 A0A075B6G3 DMD Dystrophin gnomAD rs1231745182 Xp21.1 X 32644166A> T null C S 433 433 missense 0.006 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123854 Xp21.1 X 32644159du p null V null 436 436 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556875180 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644153G> C null A G 437 437 missense 0.431 benign 0.1 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000815120 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs748964279 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644154C> G null A P 437 437 missense 0.786 possibly damaging 0.11 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000540670 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769276658 Xp21.1 X 32644150C> G null S T 438 438 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569373322 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644148T> C null M V 439 439 missense 0.525 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000706572 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs189143447 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32644145C> T null E K 440 440 0.001854 missense 0.888 possibly damaging 0.01 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000148465 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs189143447 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32644145C> T null E K 440 440 0.001854 missense 0.888 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990731 A0A075B6G3 DMD Dystrophin gnomAD rs1435928229 Xp21.1 X 32644141T> C null K R 441 441 missense 0.007 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602459252 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644144du p null Q null 442 442 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001071286 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs863224979 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32644139G> A null Q * 442 442 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201050 A0A075B6G3 DMD Dystrophin gnomAD rs863224979 Xp21.1 X 32644139G> C null Q E 442 442 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1385774389 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32644132T> G null N T 444 444 missense 0.06 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1487886667 Xp21.1 X 32614450T> G null L F 445 445 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468699 [ClinVar]: Left ventricular noncompaction cardiomyopathy, [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614448T> C null H R 446 446 missense 0.982 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168118 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468699 [ClinVar]: Left ventricular noncompaction cardiomyopathy, [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614448T> C null H R 446 446 missense 0.982 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000869409 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468699 [ClinVar]: Left ventricular noncompaction cardiomyopathy, [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614448T> C null H R 446 446 missense 0.982 probably damaging 0.0 deleterious 0 Left ventricular noncompaction cardiomyopathy ClinVar:RCV000157165 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468699 [ClinVar]: Left ventricular noncompaction cardiomyopathy, [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614448T> C null H R 446 446 missense 0.982 probably damaging 0.0 deleterious 0 Primary dilated cardiomyopathy (DCM) Familial dilated cardiomyopathy is a genetic form of heart disease. pubmed:16839424,pubmed:20301486,pubmed:21810866,ClinVar:RCV000157166 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs766841315 Xp21.1 X 32614445C> A null R I 447 447 missense 0.139 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123856 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614443CT[3 ] null V null 448 448 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001220170 A0A075B6G3 DMD Dystrophin ExAC rs763422129 Xp21.1 X 32614443C> A null V F 448 448 missense 0.517 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs750767440 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 Xp21.1 X 32614437T> C null M V 450 450 missense 0.998 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin dbSNP rs1602169535 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614434C> A null D Y 451 451 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000795920 A0A075B6G3 DMD Dystrophin TOPMed rs1363970931 Xp21.1 X 32614425T> G null N H 454 454 missense 0.011 benign 0.42 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs770751579 Xp21.1 X 32614422G> C null Q E 455 455 2.65E-4 missense 0.729 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556853298 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614419T> A null K * 456 456 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630521 A0A075B6G3 DMD Dystrophin dbSNP rs398123857 Xp21.1 X 32614414de l null E null 459 459 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs775115784 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.1 X 32614403T> C null N S 461 461 missense 0.0 benign 1.0 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000853047 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs775115784 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.1 X 32614403T> C null N S 461 461 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000460191 A0A075B6G3 DMD Dystrophin dbSNP rs886042616 Xp21.1 X 32614377_32614398de l null W null 463 463 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs863224981 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614397C> T null W * 463 463 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201011 A0A075B6G3 DMD Dystrophin TOPMed rs863224981 Xp21.1 X 32614397C> A null W L 463 463 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556853254 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614386T> A null T S 467 467 missense 0.989 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630539 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774163062 Xp21.1 X 32614380C> A null E * 469 469 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774163062 Xp21.1 X 32614380C> T null E K 469 469 missense 0.089 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs369834329 Xp21.1 X 32614374T> C null T A 471 471 missense 0.281 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs201058100 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614373G> A null T I 471 471 missense 0.024 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990730 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs201058100 Xp21.1 X 32614373G> T null T K 471 471 missense 0.786 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1404663696 Xp21.1 X 32614369C> A null R S 472 472 missense 0.06 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042499 Xp21.1 X 32614368T> A null K * 473 473 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602169021 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614363C> A null M I 474 474 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990729 A0A075B6G3 DMD Dystrophin gnomAD rs1450755467 Xp21.1 X 32614364A> G null M T 474 474 missense 0.977 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770047439 Xp21.1 X 32614360C> A null E D 475 475 missense 0.065 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1244566884 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614362C> T null E K 475 475 missense 0.864 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000820931 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1003165905 Xp21.1 X 32614354C> A null E D 477 477 missense 0.012 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1357942538 Xp21.1 X 32614356C> T null E K 477 477 missense 0.023 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042571 Xp21.1 X 32614352G> A null P L 478 478 missense 0.005 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs375337020 [ClinVar]: Dilated cardiomyopathy 3B Xp21.1 X 32614353G> A null P S 478 478 missense 0.009 benign 0.12 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168117 A0A075B6G3 DMD Dystrophin Ensembl rs955108034 Xp21.1 X 32614350G> C null L V 479 479 missense 0.056 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626240 [ClinVar]: Intermediate muscular dystrophy pubmed:8160755 Xp21.1 X 32614347C> A null G * 480 480 stop gained 0 Intermediate muscular dystrophy ClinVar:RCV000011998 A0A075B6G3 DMD Dystrophin Ensembl rs1569310654 Xp21.1 X 32614346C> T null G E 480 480 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1203696293 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32614343G> A null P L 481 481 missense 0.839 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1556853149 Xp21.1 X 32614344G> T null P T 481 481 missense 0.79 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs777765815 Xp21.1 X 32614341C> A null D Y 482 482 2.65E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs755014001 Xp21.1 X 32614338G> A null L F 483 483 missense 0.331 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs111904669 Xp21.1 X 32614334T> C null E G 484 484 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1175003732 Xp21.1 X 32614335C> T null E K 484 484 missense 0.841 possibly damaging 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1236887194 Xp21.1 X 32614330G> C null D E 485 485 missense 0.62 possibly damaging 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747050537 Xp21.1 X 32614329G> T null L I 486 486 missense 0.044 benign 0.33 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs758932385 [ClinVar]: Long QT syndrome, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614323G> A null R C 488 488 missense 0.001 benign 0.02 deleterious 0 Brugada syndrome Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. MIM:PS601144 pubmed:20301690,pubmed:23994779,ClinVar:RCV000853046 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs758932385 [ClinVar]: Long QT syndrome, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614323G> A null R C 488 488 missense 0.001 benign 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000867437 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs758932385 [ClinVar]: Long QT syndrome, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614323G> A null R C 488 488 missense 0.001 benign 0.02 deleterious 0 Long QT syndrome (LQTS) MIM:PS192500 pubmed:23994779,ClinVar:RCV000853046 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs794727065 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 32614322C> T null R H 488 488 missense 0.003 benign 0.47 tolerated 1 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs794727065 Xp21.1 X 32614322C> A null R L 488 488 missense 0.106 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123861 Xp21.1 X 32614320G> A null Q * 489 489 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs765674406 Xp21.1 X 32614318T> G null Q H 489 489 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1369827412 Xp21.1 X 32614317C> G null V L 490 490 missense 0.015 benign 0.65 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs373489300 Xp21.1 X 32614314G> C null Q E 491 491 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs373489300 Xp21.1 X 32614314G> T null Q K 491 491 missense 0.003 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753993504 Xp21.1 X 32614313T> A null Q L 491 491 missense 0.085 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753993504 Xp21.1 X 32614313T> C null Q R 491 491 missense 0.062 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556853039 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614310de l null Q null 492 492 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000556296 A0A075B6G3 DMD Dystrophin gnomAD rs1470296278 Xp21.1 X 32614308G> A null H Y 493 493 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556853022 Xp21.1 X 32614305de l null K null 494 494 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1234153462 Xp21.1 X 32614305T> C null K E 494 494 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556853018 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32614304T> C null K R 494 494 missense 0.86 possibly damaging 0.16 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001239025 A0A075B6G3 DMD Dystrophin gnomAD rs1417945091 Xp21.1 X 32595875A> T null V E 495 495 missense 0.036 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs754176290 Xp21.1 X 32595876C> A null V L 495 495 missense 0.011 benign 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs754176290 Xp21.1 X 32595876C> T null V M 495 495 missense 0.659 possibly damaging 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1190770957 Xp21.1 X 32595873G> T null L I 496 496 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626241 [ClinVar]: Duchenne muscular dystrophy pubmed:8301652 Xp21.1 X 32595870G> A null Q * 497 497 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011999 A0A075B6G3 DMD Dystrophin ExAC rs767101434 Xp21.1 X 32595866T> C null E G 498 498 missense 0.356 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs878854618 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595855G> A null Q * 502 502 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000230747 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs878854618 Xp21.1 X 32595855G> C null Q E 502 502 missense 0.333 benign 0.4 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs878854618 Xp21.1 X 32595855G> T null Q K 502 502 missense 0.333 benign 0.5 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1216898737 Xp21.1 X 32595851T> A null E V 503 503 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140340626 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Restrictive cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595846C> G null V L 505 505 0.001589 missense 0.477 possibly damaging 0.03 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167509 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140340626 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Restrictive cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595846C> G null V L 505 505 0.001589 missense 0.477 possibly damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000463358 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140340626 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Restrictive cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595846C> G null V L 505 505 0.001589 missense 0.477 possibly damaging 0.03 deleterious 0 Restrictive cardiomyopathy ClinVar:RCV000853045 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs755456119 [ClinVar]: Dilated cardiomyopathy 3B Xp21.1 X 32595841C> A null R S 506 506 missense 0.197 benign 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167508 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs755456119 Xp21.1 X 32595841C> G null R S 506 506 missense 0.197 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886044658 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595836T> C null N S 508 508 missense 0.991 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000470505 A0A075B6G3 DMD Dystrophin dbSNP rs398123863 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595829GA[2 ] null L null 510 510 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001219078 A0A075B6G3 DMD Dystrophin dbSNP rs886043376 Xp21.1 X 32595829du p null T null 511 511 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1295185756 Xp21.1 X 32595827G> A null T I 511 511 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727097 Xp21.1 X 32595824_32595827TGAG[1 ] null H null 512 512 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs886044440 Xp21.1 X 32595826_32595827du p null H null 512 512 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs776446238 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595823G> T null H Q 512 512 missense 0.729 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001066227 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs147136371 Xp21.1 X 32595825G> A null H Y 512 512 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs368326458 Xp21.1 X 32595822T> G null M L 513 513 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs368326458 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595822T> C null M V 513 513 missense 0.978 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000544827 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1045384313 Xp21.1 X 32595819C> T null V M 514 514 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775771390 Xp21.1 X 32595815A> G null V A 515 515 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556834806 Xp21.1 X 32595813C> T null V I 516 516 missense 0.54 possibly damaging 0.47 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61733587 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595805A> T null D E 518 518 0.01245 missense 1.0 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167507 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61733587 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595805A> T null D E 518 518 0.01245 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001084239 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs749649834 Xp21.1 X 32595802T> G null E D 519 519 missense 0.873 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1413639458 Xp21.1 X 32595801A> G null S P 520 520 missense 0.498 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1187482694 Xp21.1 X 32595797C> A null S I 521 521 missense 0.771 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778171516 Xp21.1 X 32595795C> T null G R 522 522 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs754640902 Xp21.1 X 32595792C> G null D H 523 523 missense 0.736 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs751216373 Xp21.1 X 32595791T> A null D V 523 523 missense 0.579 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs779611516 Xp21.1 X 32595787G> C null H Q 524 524 missense 0.017 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs779611516 Xp21.1 X 32595787G> T null H Q 524 524 missense 0.017 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs754158494 Xp21.1 X 32595786C> G null A P 525 525 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs754158494 Xp21.1 X 32595786C> T null A T 525 525 missense 0.259 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569273905 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595782de l null T null 526 526 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000703390 A0A075B6G3 DMD Dystrophin Ensembl rs760726645 Xp21.1 X 32595782G> C null T S 526 526 missense 0.069 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs765188891 Xp21.1 X 32595779G> A null A V 527 527 missense 0.749 possibly damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC rs753624531 Xp21.1 X 32595776G> T null A D 528 528 missense 0.106 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201067368 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595777C> T null A T 528 528 2.65E-4 missense 0.877 possibly damaging 0.08 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001083902 A0A075B6G3 DMD Dystrophin dbSNP rs753624531 Xp21.1 X 32595776G> A null A V 528 528 missense 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs889238270 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595773A> G null L S 529 529 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000705601 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs763936813 Xp21.1 X 32595765G> A null Q * 532 532 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763936813 Xp21.1 X 32595765G> C null Q E 532 532 missense 0.046 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1257616055 Xp21.1 X 32595764T> C null Q R 532 532 missense 0.067 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556834538 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32595762G> A null L F 533 533 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000543598 A0A075B6G3 DMD Dystrophin gnomAD rs1295100394 Xp21.1 X 32595759T> C null K E 534 534 missense 0.011 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760874706 Xp21.1 X 32595758T> A null K M 534 534 missense 0.712 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs770149373 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573845A> G null V A 535 535 missense 0.023 benign 0.46 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630565 A0A075B6G3 DMD Dystrophin TOPMed rs1430002641 Xp21.1 X 32573835A> T null D E 538 538 missense 0.007 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1308035408 Xp21.1 X 32573837C> T null D N 538 538 missense 0.017 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs748542281 Xp21.1 X 32573836T> A null D V 538 538 missense 0.69 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs398123865 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32573834G> A null R * 539 539 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000174745 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1057515876 [ClinVar]: Dilated cardiomyopathy 3B Xp21.1 X 32573833C> T null R Q 539 539 missense 1.0 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000289444 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569230389 Xp21.1 X 32573829C> T null W * 540 540 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569230406 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573830C> T null W * 540 540 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000703495 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs776947661 Xp21.1 X 32573819A> C null C G 544 544 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1057518962 Xp21.1 X 32573812C> T null W * 546 546 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569230293 Xp21.1 X 32573811C> T null W * 546 546 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1057518962 Xp21.1 X 32573812C> A null W L 546 546 missense 0.868 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1057518962 Xp21.1 X 32573812C> G null W S 546 546 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1411322098 Xp21.1 X 32573802G> T null D E 549 549 missense 0.007 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs745505765 Xp21.1 X 32573804C> T null D N 549 549 missense 0.653 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778354538 Xp21.1 X 32573801G> A null R C 550 550 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1424295439 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32573800C> T null R H 550 550 missense 0.761 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1424295439 Xp21.1 X 32573800C> G null R P 550 550 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502629 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573796C> T null W * 551 551 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000469346 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569230215 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573797C> T null W * 551 551 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000755045 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs748690103 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573795C> A null V F 552 552 missense 0.182 benign 0.71 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630544 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs748690103 Xp21.1 X 32573795C> T null V I 552 552 missense 0.003 benign 0.43 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556810362 Xp21.1 X 32573789_32573790insTTA C null L null 554 554 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224983 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573786G> A null Q * 555 555 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201018 A0A075B6G3 DMD Dystrophin TOPMed rs1230914881 Xp21.1 X 32573785T> A null Q L 555 555 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1601810667 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573782_32573785du p null D null 556 556 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990728 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs182708940 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32573783C> T null D N 556 556 0.001325 missense 0.944 probably damaging 0.02 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167505 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs182708940 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32573783C> T null D N 556 556 0.001325 missense 0.944 probably damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001079640 A0A075B6G3 DMD Dystrophin TOPMed rs1341593577 Xp21.1 X 32573782T> A null D V 556 556 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1159051532 Xp21.1 X 32573778G> C null I M 557 557 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1800257 Xp21.1 X 32573779A> G null I T 557 557 missense 0.571 possibly damaging 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs922812643 Xp21.1 X 32573777G> C null L V 558 558 missense 0.933 probably damaging 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224984 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573766C> T null W * 561 561 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201104 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs145739725 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32573762G> A null R C 563 563 missense 0.443 benign 0.01 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000766091 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs145739725 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32573762G> A null R C 563 563 missense 0.443 benign 0.01 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000766091 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs145739725 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32573762G> A null R C 563 563 missense 0.443 benign 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000766091,ClinVar:RCV001086639 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs191197223 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573761C> T null R H 563 563 2.65E-4 missense 0.001 benign 0.86 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165933 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs191197223 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573761C> T null R H 563 563 2.65E-4 missense 0.001 benign 0.86 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000868351 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs145739725 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573762G> T null R S 563 563 missense 0.003 benign 0.05 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167504 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs145739725 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573762G> T null R S 563 563 missense 0.003 benign 0.05 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000474046 A0A075B6G3 DMD Dystrophin dbSNP rs1601810456 Xp21.1 X 32573756du p null T null 565 565 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs763112789 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573755G> A null T I 565 565 missense 0.281 benign 0.3 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000706946 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP rs766450050 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573756T> A null T S 565 565 missense 0.024 benign 0.15 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001214361 A0A075B6G3 DMD Dystrophin TOPMed rs1190158409 Xp21.1 X 32573747G> C null Q E 568 568 missense 0.954 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1601810379 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573745C> G null Q H 568 568 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000795710 A0A075B6G3 DMD Dystrophin gnomAD rs1181082381 Xp21.1 X 32573746T> C null Q R 568 568 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1326680081 Xp21.1 X 32573630A> C null F C 571 571 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs587782936 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Arrhythmogenic right ventricular cardiomyopathy Xp21.1 X 32573629A> T null F L 571 571 missense 0.517 possibly damaging 0.5 tolerated 0 Arrhythmogenic right ventricular cardiomyopathy (ARVD) Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. MIM:PS107970 pubmed:20301310,pubmed:21810866,ClinVar:RCV000143878 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs587782936 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Arrhythmogenic right ventricular cardiomyopathy Xp21.1 X 32573629A> T null F L 571 571 missense 0.517 possibly damaging 0.5 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000944206 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1326680081 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573630A> G null F S 571 571 missense 0.994 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000799578 A0A075B6G3 DMD Dystrophin dbSNP rs1601808932 Xp21.1 X 32573633du p null S * 572 572 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1259478321 Xp21.1 X 32573626A> T null S R 572 572 missense 0.0 benign 0.32 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569229528 Xp21.1 X 32573624de l null A null 573 573 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1388666944 Xp21.1 X 32573625C> T null A T 573 573 missense 0.003 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs5972599 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573624G> A null A V 573 573 0.005033 missense 0.003 benign 0.09 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000469616 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs370644567 [ClinVar]: Inborn genetic diseases, [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Exertional myalgia, muscle stiffness and myoglobinuria, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32573618A> G null L P 575 575 missense 0.985 probably damaging 0.0 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000984164 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs370644567 [ClinVar]: Inborn genetic diseases, [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Exertional myalgia, muscle stiffness and myoglobinuria, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32573618A> G null L P 575 575 missense 0.985 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000984165 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs370644567 [ClinVar]: Inborn genetic diseases, [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Exertional myalgia, muscle stiffness and myoglobinuria, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32573618A> G null L P 575 575 missense 0.985 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630575 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs370644567 [ClinVar]: Inborn genetic diseases, [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Exertional myalgia, muscle stiffness and myoglobinuria, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32573618A> G null L P 575 575 missense 0.985 probably damaging 0.0 deleterious 0 Exertional myalgia, muscle stiffness and myoglobinuria ClinVar:RCV000148464 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs370644567 [ClinVar]: Inborn genetic diseases, [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Exertional myalgia, muscle stiffness and myoglobinuria, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32573618A> G null L P 575 575 missense 0.985 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000622871 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150199251 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573611T> A null E D 577 577 0.00106 missense 0.044 benign 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001079116 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs754347572 Xp21.1 X 32573608T> A null K N 578 578 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123866 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573612du p null E null 579 579 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990727 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764527758 Xp21.1 X 32573606T> C null E G 579 579 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1246969208 Xp21.1 X 32573603T> C null D G 580 580 missense 0.087 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs763155705 Xp21.1 X 32573600G> A null A V 581 581 2.65E-4 missense 0.019 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556809842 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32573597A> T null V E 582 582 missense 0.394 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000546655 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770659250 Xp21.1 X 32573598C> A null V L 582 582 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,dbSNP,gnomAD rs775846754 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573593G> C null N K 583 583 2.65E-4 missense 0.001 benign 0.15 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001056880 A0A075B6G3 DMD Dystrophin dbSNP rs1601808608 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573592T> A null K * 584 584 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990726 A0A075B6G3 DMD Dystrophin dbSNP rs1601808608 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573592T> G null K Q 584 584 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000819986 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs376238937 Xp21.1 X 32573588A> C null I S 585 585 missense 0.879 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1085307667 Xp21.1 X 32573589T> C null I V 585 585 missense 0.076 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569229325 Xp21.1 X 32573585T> A null H L 586 586 missense 0.023 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1344492096 Xp21.1 X 32573583T> C null T A 587 587 missense 0.079 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569229278 Xp21.1 X 32573580T> C null T A 588 588 missense 0.0 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747599369 Xp21.1 X 32573579G> A null T I 588 588 missense 0.088 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs781297169 Xp21.1 X 32573576C> T null G D 589 589 missense 0.003 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1438861949 Xp21.1 X 32573574A> T null F I 590 590 missense 0.915 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1329470631 Xp21.1 X 32573573A> T null F Y 590 590 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1601808412 Xp21.1 X 32573570_32573573du p null K N* 591 591 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1322935433 Xp21.1 X 32573570T> G null K T 591 591 missense 0.653 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1601808175 Xp21.1 X 32573541_32573571de l null D null 592 592 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs768672229 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573566A> C null D E 592 592 missense 0.214 benign 0.07 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000981592 A0A075B6G3 DMD Dystrophin Ensembl rs879236805 Xp21.1 X 32573567T> A null D V 592 592 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1601808326 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573565G> A null Q * 593 593 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990725 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs746859521 Xp21.1 X 32573558T> C null E G 595 595 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1601808296 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573554de l null M null 596 596 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990724 A0A075B6G3 DMD Dystrophin dbSNP rs1601808288 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573551du p null S null 598 598 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990723 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs779690781 Xp21.1 X 32573550A> G null S P 598 598 missense 0.104 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556809704 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32573548de l null S null 599 599 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630537 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs758704487 Xp21.1 X 32573545A> T null S R 599 599 missense 0.127 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1389313245 Xp21.1 X 32573544G> A null L F 600 600 missense 0.962 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs750606186 Xp21.1 X 32573539T> G null Q H 601 601 missense 0.001 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs750606186 Xp21.1 X 32573539T> A null Q H 601 601 missense 0.001 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs941263178 Xp21.1 X 32573538T> C null K E 602 602 missense 0.236 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs909802044 Xp21.1 X 32573535G> T null L M 603 603 missense 0.212 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1197490695 Xp21.1 X 32573531G> A null A V 604 604 missense 0.571 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs752720397 Xp21.1 X 32565880A> T null V D 605 605 missense 0.001 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs939660481 Xp21.1 X 32565881C> A null V F 605 605 missense 0.077 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs939660481 Xp21.1 X 32565881C> T null V I 605 605 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs767698069 Xp21.1 X 32565875T> C null K E 607 607 missense 0.73 possibly damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1449874137 Xp21.1 X 32565873T> A null K N 607 607 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs767698069 Xp21.1 X 32565875T> G null K Q 607 607 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs189896732 Xp21.1 X 32565871G> T null A E 608 608 2.65E-4 missense 0.005 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs189896732 Xp21.1 X 32565871G> A null A V 608 608 2.65E-4 missense 0.007 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs761724460 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565869C> A null D Y 609 609 missense 0.945 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000795451 A0A075B6G3 DMD Dystrophin TOPMed rs1038621074 Xp21.1 X 32565859T> A null K M 612 612 missense 0.001 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1302764635 Xp21.1 X 32565857T> C null K E 613 613 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042971 Xp21.1 X 32565855T> A null K N 613 613 missense 0.723 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760732984 Xp21.1 X 32565856T> C null K R 613 613 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs771660778 Xp21.1 X 32565853T> A null K M 614 614 missense 0.667 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771660778 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565853T> G null K T 614 614 missense 0.171 benign 0.02 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165931 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771660778 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565853T> G null K T 614 614 missense 0.171 benign 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000685320 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs745478369 Xp21.1 X 32565849T> A null Q H 615 615 missense 0.736 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774022304 Xp21.1 X 32565848A> C null S A 616 616 missense 0.003 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749663167 Xp21.1 X 32565847G> A null S F 616 616 missense 0.183 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749663167 Xp21.1 X 32565847G> T null S Y 616 616 missense 0.183 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1238073206 Xp21.1 X 32565843C> T null M I 617 617 missense 0.171 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1315001276 Xp21.1 X 32565845T> C null M V 617 617 missense 0.341 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1221161015 Xp21.1 X 32565841C> T null G D 618 618 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886041344 Xp21.1 X 32565829G> C null S * 622 622 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886041344 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565829G> T null S * 622 622 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000559980 A0A075B6G3 DMD Dystrophin Ensembl rs1800259 Xp21.1 X 32565827G> T null L I 623 623 missense 0.202 benign 0.45 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs915718166 Xp21.1 X 32565820T> C null Q R 625 625 missense 0.108 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569214355 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565817T> A null D V 626 626 missense 0.73 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000690385 A0A075B6G3 DMD Dystrophin NCI-TCGA rs767034345 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32565810_32565812de l null L null 628 628 inframe deletion 0 A0A075B6G3 DMD Dystrophin gnomAD rs1208125311 Xp21.1 X 32565812G> C null L V 628 628 missense 0.015 benign 0.49 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs767034345 Xp21.1 X 32565811_32565813AGA[1 ] null L null 628 628 inframe deletion 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123867 Xp21.1 X 32565808G> T null S * 629 629 stop gained 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468692 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565806T> C null T A 630 630 5.3E-4 missense 0.0 benign 0.6 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165930 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468692 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565806T> C null T A 630 630 5.3E-4 missense 0.0 benign 0.6 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000526900 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057523223 Xp21.1 X 32565805G> T null T K 630 630 missense 0.038 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1057523223 Xp21.1 X 32565805G> C null T R 630 630 missense 0.078 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603636541 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565800T> A null K * 632 632 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990722 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs766723466 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32565798C> A null K N 632 632 missense 0.015 benign 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs757047592 Xp21.1 X 32565797T> C null N D 633 633 missense 0.015 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs753683083 Xp21.1 X 32565795A> T null N K 633 633 missense 0.301 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs757047592 [ClinVar]: Becker muscular dystrophy Xp21.1 X 32565797T> A null N Y 633 633 missense 0.794 possibly damaging 0.0 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV001027927 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs757047592 [ClinVar]: Becker muscular dystrophy Xp21.1 X 32565797T> A null N Y 633 633 missense 0.794 possibly damaging 0.0 deleterious 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV001027927 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs757047592 [ClinVar]: Becker muscular dystrophy Xp21.1 X 32565797T> A null N Y 633 633 missense 0.794 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001027927 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs757047592 [ClinVar]: Becker muscular dystrophy Xp21.1 X 32565797T> A null N Y 633 633 missense 0.794 possibly damaging 0.0 deleterious 0 Dystrophin deficiency ClinVar:RCV001027927 A0A075B6G3 DMD Dystrophin Ensembl rs398123868 Xp21.1 X 32565794T> A null K * 634 634 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123869 Xp21.1 X 32565795_32565796insCTT A null S * 635 635 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs764008354 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565787A> G null V A 636 636 missense 0.076 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000796105 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs371742357 Xp21.1 X 32565784G> A null T I 637 637 missense 0.038 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727170 Xp21.1 X 32565782G> A null Q * 638 638 stop gained 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs183677010 cosmic curated [ClinVar]: Duchenne muscular dystrophy, [Cosmic]: kidney cosmic_study:416 Xp21.1 X 32565775G> A null T M 640 640 2.65E-4 missense 0.0 benign 0.3 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000818063 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs779138399 Xp21.1 X 32565770C> T null A T 642 642 2.65E-4 missense 0.007 benign 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1404072059 Xp21.1 X 32565763A> G null L P 644 644 missense 0.809 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs147822019 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565760T> C null D G 645 645 missense 0.12 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001082933 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057524872 Xp21.1 X 32565755A> T null F I 647 647 missense 0.155 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs749004200 Xp21.1 X 32565748C> G null R P 649 649 missense 0.005 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs749004200 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565748C> T null R Q 649 649 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000703233 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs770572107 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565749G> A null R W 649 649 missense 0.054 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000865163 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs128626242 [ClinVar]: Duchenne muscular dystrophy pubmed:7951253 Xp21.1 X 32565742C> T null W * 651 651 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011996 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs128626242 Xp21.1 X 32565742C> G null W S 651 651 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs886043640 Xp21.1 X 32565738de l null D null 652 652 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1488881909 Xp21.1 X 32565740C> A null D Y 652 652 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057518312 Xp21.1 X 32565733A> G null L S 654 654 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603636537 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565728G> A null Q * 656 656 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990721 A0A075B6G3 DMD Dystrophin Ensembl rs796762288 Xp21.1 X 32565723T> A null K N 657 657 missense 0.177 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1243445331 Xp21.1 X 32565724T> C null K R 657 657 missense 0.476 possibly damaging 0.39 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs781735140 Xp21.1 X 32565718T> C null E G 659 659 missense 0.141 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs748567438 Xp21.1 X 32565719C> T null E K 659 659 missense 0.746 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569213903 Xp21.1 X 32565717_32565718de l null K null 660 660 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556802365 Xp21.1 X 32565715_32565719de l null K null 660 660 frameshift 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41309715 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565706G> A null A V 663 663 2.65E-4 missense 0.001 benign 0.2 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001061514 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123870 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32565704G> A null Q * 664 664 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001062806 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34563188 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.1 X 32545330G> A null S L 666 666 0.005033 missense 0.804 possibly damaging 0.01 deleterious 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000853044 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34563188 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.1 X 32545330G> A null S L 666 666 0.005033 missense 0.804 possibly damaging 0.01 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165928 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34563188 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.1 X 32545330G> A null S L 666 666 0.005033 missense 0.804 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001084848 A0A075B6G3 DMD Dystrophin gnomAD rs1216909016 Xp21.1 X 32545331A> G null S P 666 666 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs780258934 Xp21.1 X 32545327T> C null Q R 667 667 missense 0.889 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1369143100 Xp21.1 X 32545324G> A null A V 668 668 missense 0.682 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1476533504 Xp21.1 X 32545319T> A null T S 670 670 missense 0.053 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1198697689 Xp21.1 X 32545315G> C null T S 671 671 missense 0.014 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772317444 Xp21.1 X 32545312G> A null T I 672 672 missense 0.003 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs128626232 [ClinVar]: Duchenne muscular dystrophy pubmed:7649554,pubmed:7825571,pubmed:7881286 Xp21.1 X 32545310G> A null Q * 673 673 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011984 A0A075B6G3 DMD Dystrophin gnomAD rs128626232 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32545310G> C null Q E 673 673 missense 0.096 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs398123872 Xp21.1 X 32545295G> A null Q * 678 678 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs398123872 [ClinVar]: Inborn genetic diseases Xp21.1 X 32545295G> C null Q E 678 678 missense 0.053 benign 0.23 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000623411 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs755805024 Xp21.1 X 32545294T> G null Q P 678 678 missense 0.786 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs752538981 Xp21.1 X 32545291G> A null T I 679 679 missense 0.193 benign 0.46 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs752538981 Xp21.1 X 32545291G> T null T K 679 679 missense 0.053 benign 0.7 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs200504614 Xp21.1 X 32545289T> C null T A 680 680 0.0 missense 0.835 possibly damaging 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,gnomAD rs367769606 Xp21.1 X 32545288G> A null T I 680 680 2.65E-4 missense 0.835 possibly damaging 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,dbSNP,gnomAD rs367769606 Xp21.1 X 32545288G> T null T N 680 680 2.65E-4 missense 0.981 probably damaging 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs200504614 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 Xp21.1 X 32545289T> A null T S 680 680 0.0 missense 0.646 possibly damaging 0.65 tolerated 1 A0A075B6G3 DMD Dystrophin Ensembl rs1046148925 Xp21.1 X 32545286C> T null V I 681 681 missense 0.155 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1248184224 Xp21.1 X 32545276G> A null T I 684 684 missense 0.981 probably damaging 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs886043699 Xp21.1 X 32545274_32545275de l null V null 685 685 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603635954 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545274C> A null V L 685 685 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000822376 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP,gnomAD rs751543064 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32545267G> A null T M 687 687 missense 0.0 benign 0.68 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000871350 A0A075B6G3 DMD Dystrophin dbSNP rs1603635953 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545263du p null T null 689 689 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990720 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs765839397 Xp21.1 X 32545259T> C null T A 690 690 missense 0.036 benign 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs762475657 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545258G> A null T I 690 690 missense 0.205 benign 0.47 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000798504 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749989940 Xp21.1 X 32545253C> T null E K 692 692 missense 0.729 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1060502635 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545252du p null Q null 693 693 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000470282 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502661 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545250G> A null Q * 693 693 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000466434 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs761441684 Xp21.1 X 32545248C> A null Q H 693 693 missense 0.003 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs777042810 Xp21.1 X 32545247T> A null I F 694 694 missense 0.637 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556780761 Xp21.1 X 32545243A> C null L R 695 695 missense 0.034 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1396901941 Xp21.1 X 32545236C> A null K N 697 697 missense 0.889 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs769193495 Xp21.1 X 32545237T> C null K R 697 697 missense 0.276 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs202008454 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.1 X 32545231G> C null A G 699 699 5.3E-4 missense 0.0 benign 0.07 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000853043 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs202008454 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.1 X 32545231G> C null A G 699 699 5.3E-4 missense 0.0 benign 0.07 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168819 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs202008454 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.1 X 32545231G> C null A G 699 699 5.3E-4 missense 0.0 benign 0.07 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630637 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs374577724 Xp21.1 X 32545229G> C null Q E 700 700 missense 0.025 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs913723102 Xp21.1 X 32545228T> G null Q P 700 700 missense 0.499 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603635950 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545226de l null E null 701 701 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990719 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556780711 Xp21.1 X 32545226C> A null E * 701 701 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs772229363 Xp21.1 X 32545225T> G null E A 701 701 missense 0.333 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs745972280 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 Xp21.1 X 32545220G> T null L I 703 703 missense 0.046 benign 0.08 tolerated 1 A0A075B6G3 DMD Dystrophin dbSNP rs1569169736 Xp21.1 X 32545217de l null P null 704 704 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1060502638 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545217G> A null P S 704 704 missense 0.3 benign 0.21 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000466686 A0A075B6G3 DMD Dystrophin dbSNP rs1603635949 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545214de l null P null 705 705 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990718 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs771176356 Xp21.1 X 32545213G> T null P Q 705 705 missense 0.858 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs771176356 Xp21.1 X 32545213G> C null P R 705 705 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs781015830 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545210G> T null P Q 706 706 missense 0.994 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168818 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs781015830 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545210G> T null P Q 706 706 missense 0.994 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001239735 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749527111 Xp21.1 X 32545211G> T null P T 706 706 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs754801938 Xp21.1 X 32545208G> C null P A 707 707 missense 0.801 possibly damaging 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1247170583 Xp21.1 X 32545207G> C null P R 707 707 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs754801938 Xp21.1 X 32545208G> A null P S 707 707 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs746905058 Xp21.1 X 32545204G> A null P L 708 708 missense 0.747 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs957976211 Xp21.1 X 32545205G> T null P T 708 708 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123875 Xp21.1 X 32545205de l null Q null 709 709 frameshift 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,dbSNP,gnomAD rs370459675 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545201T> A null Q L 709 709 missense 0.62 possibly damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000552689 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs370459675 Xp21.1 X 32545201T> C null Q R 709 709 missense 0.646 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569169560 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545201de l null K null 710 710 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000819122 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764714457 Xp21.1 X 32545199T> C null K E 710 710 missense 0.828 possibly damaging 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1209997926 cosmic curated [Cosmic]: endometrium cosmic_study:419 Xp21.1 X 32545197C> G null K N 710 710 missense 0.991 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin dbSNP rs1556780579 Xp21.1 X 32545196de l null K null 711 711 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1294221734 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545193T> C null R G 712 712 missense 0.979 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000819179 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs398123876 Xp21.1 X 32545190G> A null Q * 713 713 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs398123876 Xp21.1 X 32545190G> C null Q E 713 713 missense 0.937 probably damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753474652 Xp21.1 X 32545188C> A null Q H 713 713 missense 0.618 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16998350 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545184T> G null T P 715 715 0.007417 missense 0.0 benign 0.29 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000530798 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16998350 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545184T> A null T S 715 715 0.007417 missense 0.003 benign 0.61 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168817 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16998350 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545184T> A null T S 715 715 0.007417 missense 0.003 benign 0.61 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001082573 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs886043081 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545181C> G null V L 716 716 missense 0.051 benign 0.17 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000377994 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs886043081 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32545181C> G null V L 716 716 missense 0.051 benign 0.17 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001215920 A0A075B6G3 DMD Dystrophin Ensembl rs1569169444 Xp21.1 X 32545178C> A null D Y 717 717 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1220044977 Xp21.1 X 32545174G> A null S F 718 718 missense 0.436 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1366140968 Xp21.1 X 32545170T> A null E D 719 719 missense 0.492 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1310983718 Xp21.1 X 32545172C> G null E Q 719 719 missense 0.169 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1452229677 Xp21.1 X 32545171T> A null E V 719 719 missense 0.812 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761143577 Xp21.1 X 32545169T> C null I V 720 720 missense 0.003 benign 0.94 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs398123879 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32518127C> A null D Y 725 725 7.95E-4 missense 0.99 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000861612 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886044365 Xp21.1 X 32518124C> A null V F 726 726 missense 0.789 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs886044365 Xp21.1 X 32518124C> T null V I 726 726 missense 0.098 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs756477540 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32518121C> G null D H 727 727 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs756477540 Xp21.1 X 32518121C> T null D N 727 727 missense 0.962 probably damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs192004962 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32518117A> G null I T 728 728 2.65E-4 missense 0.0 benign 0.64 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001063135 A0A075B6G3 DMD Dystrophin TOPMed rs1208346420 Xp21.1 X 32518115T> A null T S 729 729 missense 0.155 benign 0.4 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs755204534 Xp21.1 X 32518109G> C null L V 731 731 2.65E-4 missense 0.967 probably damaging 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569565192 Xp21.1 X 32518105du p null H null 732 732 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1060502636 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32518098C> T null W * 734 734 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000458271 A0A075B6G3 DMD Dystrophin gnomAD rs1060502636 Xp21.1 X 32518098C> G null W C 734 734 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727204 Xp21.1 X 32518100A> G null W R 734 734 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1388329989 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 Xp21.1 X 32518093G> A null T I 736 736 missense 0.17 benign 0.13 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs762960280 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32518091G> A null R C 737 737 missense 0.975 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000820788 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs762960280 Xp21.1 X 32518091G> C null R G 737 737 missense 0.906 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs773358704 [ClinVar]: Dilated cardiomyopathy 3B, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32518090C> T null R H 737 737 missense 0.975 probably damaging 0.01 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000263149 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs773358704 Xp21.1 X 32518090C> A null R L 737 737 missense 0.875 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1338930949 Xp21.1 X 32518087G> A null S L 738 738 missense 0.917 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224985 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32518085C> A null E * 739 739 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201007 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762082311 Xp21.1 X 32518082C> A null A S 740 740 missense 0.551 possibly damaging 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762082311 Xp21.1 X 32518082C> T null A T 740 740 missense 0.55 possibly damaging 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886039135 Xp21.1 X 32518078A> G null V A 741 741 missense 0.0 benign 0.64 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1404882379 Xp21.1 X 32518070T> G null S R 744 744 missense 0.433 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1435295333 Xp21.1 X 32518067G> C null P A 745 745 missense 0.003 benign 0.55 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1013062417 Xp21.1 X 32518060A> G null F S 747 747 missense 0.236 benign 0.54 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569565188 Xp21.1 X 32518057G> A null A V 748 748 missense 0.637 possibly damaging 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771803281 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy Xp21.1 X 32518055T> C null I V 749 749 missense 0.0 benign 0.59 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000374144 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771803281 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy Xp21.1 X 32518055T> C null I V 749 749 missense 0.0 benign 0.59 tolerated 0 Primary dilated cardiomyopathy (DCM) Familial dilated cardiomyopathy is a genetic form of heart disease. pubmed:16839424,pubmed:20301486,pubmed:21810866,ClinVar:RCV000211455 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs377539940 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32518051A> G null F S 750 750 missense 0.003 benign 0.42 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000696509 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs747802164 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32518048C> T null R Q 751 751 missense 0.895 possibly damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001248135 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs373475448 NCI-TCGA Cosmic [ClinVar]: Primary dilated cardiomyopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32518049G> A null R W 751 751 missense 0.992 probably damaging 0.0 deleterious 0 Primary dilated cardiomyopathy (DCM) Familial dilated cardiomyopathy is a genetic form of heart disease. pubmed:16839424,pubmed:20301486,pubmed:21810866,ClinVar:RCV000208236 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1238200206 Xp21.1 X 32518044C> G null K N 752 752 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs780219510 Xp21.1 X 32518045T> G null K T 752 752 2.65E-4 missense 0.814 possibly damaging 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557396632 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung cosmic_study:417 Xp21.1 X 32518043C> A null E * 753 753 missense 1 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs369017141 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32518040C> A null G C 754 754 missense 0.982 probably damaging 0.08 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000705235 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151242451 Xp21.1 X 32518039C> T null G D 754 754 0.001589 missense 0.917 probably damaging 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs151242451 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32518039C> A null G V 754 754 0.001589 missense 0.872 possibly damaging 0.16 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990716 A0A075B6G3 DMD Dystrophin TOPMed rs1192427975 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 Xp21.1 X 32518030G> C null S * 757 757 missense 1 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,dbSNP,gnomAD rs750526692 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Familial restrictive cardiomyopathy Xp21.1 X 32518027T> G null D A 758 758 5.3E-4 missense 0.516 possibly damaging 0.03 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168047 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,dbSNP,gnomAD rs750526692 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Familial restrictive cardiomyopathy Xp21.1 X 32518027T> G null D A 758 758 5.3E-4 missense 0.516 possibly damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000555681 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,dbSNP,gnomAD rs750526692 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Familial restrictive cardiomyopathy Xp21.1 X 32518027T> G null D A 758 758 5.3E-4 missense 0.516 possibly damaging 0.03 deleterious 0 Familial restrictive cardiomyopathy (RCM) Familial restrictive cardiomyopathy is a genetic form of heart disease. MIM:PS115210 pubmed:21810866,ClinVar:RCV000853164 A0A075B6G3 DMD Dystrophin gnomAD rs1426562198 Xp21.1 X 32518028C> G null D H 758 758 missense 0.93 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502627 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32518024A> T null L * 759 759 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000472980 A0A075B6G3 DMD Dystrophin gnomAD rs1271843078 Xp21.1 X 32518025A> T null L I 759 759 missense 0.017 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs755326440 Xp21.1 X 32518021T> G null K T 760 760 missense 0.012 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123881 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32518019_32518023de l null E null 761 761 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001210732 A0A075B6G3 DMD Dystrophin gnomAD rs1254448592 Xp21.1 X 32518018T> A null E V 761 761 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs199588981 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32518009T> C null N S 764 764 7.95E-4 missense 0.06 benign 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001081740 A0A075B6G3 DMD Dystrophin dbSNP rs398123882 Xp21.1 X 32501838_32501841de l null A null 765 765 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1400599851 Xp21.1 X 32501841G> A null A V 765 765 missense 0.019 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1443021146 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32501838A> G null I T 766 766 missense 0.023 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000529606 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs372490563 Xp21.1 X 32501839T> C null I V 766 766 missense 0.003 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,dbSNP rs201366610 [ClinVar]: Duchenne muscular dystrophy pubmed:8499922 Xp21.1 X 32501833G> A null R * 768 768 2.65E-4 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011973 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC rs201366610 Xp21.1 X 32501833G> C null R G 768 768 2.65E-4 missense 0.296 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs769377296 Xp21.1 X 32501832C> T null R Q 768 768 missense 0.269 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626243 [ClinVar]: Duchenne muscular dystrophy pubmed:7951253 Xp21.1 X 32501827T> A null K * 770 770 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012001 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs776275581 Xp21.1 X 32501824C> G null A P 771 771 missense 0.003 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1245604423 Xp21.1 X 32501823G> A null A V 771 771 missense 0.015 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs267606770 [ClinVar]: Duchenne muscular dystrophy pubmed:8401582 Xp21.1 X 32501821C> A null E * 772 772 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011975 A0A075B6G3 DMD Dystrophin dbSNP rs886042437 Xp21.1 X 32501818_32501819TC[1 ] null K null 773 773 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs128626244 cosmic curated [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419,pubmed:7981590 Xp21.1 X 32501818T> C null K E 773 773 missense 0.888 possibly damaging 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012002 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs768183276 Xp21.1 X 32501814A> C null F C 774 774 missense 0.357 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs886038905 Xp21.1 X 32501812T> C null R G 775 775 missense 0.545 possibly damaging 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1328409491 Xp21.1 X 32501811C> T null R K 775 775 missense 0.171 benign 0.58 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1213597041 Xp21.1 X 32501808T> A null K I 776 776 missense 0.666 possibly damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727226 [ClinVar]: Becker muscular dystrophy Xp21.1 X 32501805A> G null L P 777 777 missense 0.983 probably damaging 0.0 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000766090 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727226 [ClinVar]: Becker muscular dystrophy Xp21.1 X 32501805A> G null L P 777 777 missense 0.983 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000766090 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727226 [ClinVar]: Becker muscular dystrophy Xp21.1 X 32501805A> G null L P 777 777 missense 0.983 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000766090 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123883 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32501803G> A null Q * 778 778 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000175441 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs758795722 Xp21.1 X 32501798A> C null D E 779 779 missense 0.076 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1422657494 Xp21.1 X 32501793C> A null S I 781 781 missense 0.015 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1357007720 Xp21.1 X 32501790C> A null R I 782 782 missense 0.817 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs150692967 Xp21.1 X 32501789T> A null R S 782 782 missense 0.79 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1800260 Xp21.1 X 32501784G> C null A G 784 784 missense 0.007 benign 0.88 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1363499842 Xp21.1 X 32501778G> T null A D 786 786 missense 0.005 benign 0.5 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP rs757260917 Xp21.1 X 32501775A> T null L Q 787 787 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs756267575 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32501773C> A null V L 788 788 missense 0.003 benign 0.72 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000799719 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs763844939 Xp21.1 X 32501770C> T null E K 789 789 2.65E-4 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs762860653 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32501767G> A null Q * 790 790 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201099 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762860653 Xp21.1 X 32501767G> C null Q E 790 790 missense 0.279 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs907287128 Xp21.1 X 32501765C> A null Q H 790 790 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1014795303 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32501760A> G null V A 792 792 missense 0.003 benign 0.74 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000693653 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123886 Xp21.1 X 32501755C> T null E K 794 794 missense 0.387 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs760247534 Xp21.1 X 32491515C> A null G V 795 795 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs139726281 Xp21.1 X 32491513C> A null V F 796 796 missense 0.009 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs139726281 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491513C> T null V I 796 796 missense 0.001 benign 0.17 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000542994 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468681 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Dilated cardiomyopathy Xp21.1 X 32491508A> C null N K 797 797 0.002914 missense 0.02 benign 0.56 tolerated 0 Dilated cardiomyopathy ClinVar:RCV000853042 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468681 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Dilated cardiomyopathy Xp21.1 X 32491508A> C null N K 797 797 0.002914 missense 0.02 benign 0.56 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168045 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468681 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Dilated cardiomyopathy Xp21.1 X 32491508A> C null N K 797 797 0.002914 missense 0.02 benign 0.56 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001081169 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468681 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Dilated cardiomyopathy Xp21.1 X 32491508A> C null N K 797 797 0.002914 missense 0.02 benign 0.56 tolerated 0 Primary dilated cardiomyopathy (DCM) Familial dilated cardiomyopathy is a genetic form of heart disease. pubmed:16839424,pubmed:20301486,pubmed:21810866,ClinVar:RCV000211534 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774675964 Xp21.1 X 32491506G> T null A E 798 798 missense 0.038 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs991360358 Xp21.1 X 32491500C> T null S N 800 800 missense 0.003 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs142115986 Xp21.1 X 32491499G> T null S R 800 800 missense 0.169 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs778361544 Xp21.1 X 32491495T> G null K Q 802 802 missense 0.251 benign 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603634748 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491492de l null Q null 803 803 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990713 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs863224986 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491492G> A null Q * 803 803 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201181 A0A075B6G3 DMD Dystrophin TOPMed rs863224986 Xp21.1 X 32491492G> T null Q K 803 803 missense 0.003 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769702449 Xp21.1 X 32491491T> C null Q R 803 803 missense 0.001 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1345371284 Xp21.1 X 32491485G> A null S L 805 805 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557383761 Xp21.1 X 32491483C> A null E * 806 806 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569564803 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491481T> A null E D 806 806 missense 0.007 benign 0.24 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000694934 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123888 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491480G> A null Q * 807 807 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001230051 A0A075B6G3 DMD Dystrophin dbSNP rs1557383751 Xp21.1 X 32491475_32491476ins T null N null 809 809 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1371616520 Xp21.1 X 32491470C> T null S N 810 810 missense 0.02 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs868641814 Xp21.1 X 32491467C> T null R Q 811 811 missense 0.896 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs781482969 cosmic curated [Cosmic]: NS pubmed:22722201,cosmic_study:385 Xp21.1 X 32491468G> A null R W 811 811 missense 0.994 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123889 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491463C> T null W * 812 812 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990712 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557383723 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491465A> T null W R 812 812 missense 0.868 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000548335 A0A075B6G3 DMD Dystrophin dbSNP rs1603634747 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491458de l null E null 814 814 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990711 A0A075B6G3 DMD Dystrophin gnomAD rs1408435603 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32491459C> T null E K 814 814 missense 0.15 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1347634330 Xp21.1 X 32491455A> T null F Y 815 815 missense 0.759 possibly damaging 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603634746 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491451G> T null C * 816 816 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990710 A0A075B6G3 DMD Dystrophin gnomAD rs1468177610 Xp21.1 X 32491448C> A null Q H 817 817 missense 0.18 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1174301416 Xp21.1 X 32491449T> C null Q R 817 817 missense 0.049 benign 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs751873846 Xp21.1 X 32491441T> G null S R 820 820 missense 0.088 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603634744 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491433_32491434TC[1 ] null E null 821 821 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000797001 A0A075B6G3 DMD Dystrophin dbSNP rs1603634745 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491438C> A null E * 821 821 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990709 A0A075B6G3 DMD Dystrophin gnomAD rs1420714074 Xp21.1 X 32491437T> C null E G 821 821 missense 0.133 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603634744 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491433_32491434TC[2 ] null R null 822 822 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990708 A0A075B6G3 DMD Dystrophin gnomAD rs1361636867 Xp21.1 X 32491432G> C null L V 823 823 missense 0.001 benign 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778811645 Xp21.1 X 32491427G> C null N K 824 824 missense 0.003 benign 0.59 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1349599588 Xp21.1 X 32491424C> A null W C 825 825 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs769988372 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491426A> C null W G 825 825 7.95E-4 missense 0.037 benign 0.1 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000228776 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1007795046 Xp21.1 X 32491423G> C null L V 826 826 missense 0.047 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs794727323 Xp21.1 X 32491420C> A null E * 827 827 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed rs794727323 Xp21.1 X 32491420C> T null E K 827 827 missense 0.036 benign 0.48 tolerated 0 A0A075B6G3 DMD Dystrophin NCI-TCGA rs398123890 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32491420de l null E S 827 827 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs727503858 Xp21.1 X 32491415A> C null Y * 828 828 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123891 Xp21.1 X 32491417A> C null Y D 828 828 missense 0.464 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs753662330 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491414G> A null Q * 829 829 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001240972 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753662330 Xp21.1 X 32491414G> C null Q E 829 829 missense 0.2 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557383647 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491413T> G null Q P 829 829 missense 0.956 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630549 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs72468679 Xp21.1 X 32491409G> T null N K 830 830 2.65E-4 missense 0.062 benign 0.58 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs771166460 Xp21.1 X 32491406_32491408GTT[1 ] null N null 831 831 inframe deletion 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs370656879 Xp21.1 X 32491405T> C null I V 832 832 missense 0.421 benign 0.38 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs752188036 Xp21.1 X 32491400G> C null I M 833 833 missense 0.597 possibly damaging 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557383630 Xp21.1 X 32491401A> T null I N 833 833 missense 0.006 benign 0.55 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759157383 Xp21.1 X 32491398G> C null A G 834 834 missense 0.087 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs767063127 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung pubmed:22980975,cosmic_study:376,cosmic_study:419,cosmic_study:431 Xp21.1 X 32491399C> T null A T 834 834 missense 0.005 benign 0.26 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774020237 Xp21.1 X 32491396A> G null F L 835 835 missense 0.261 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1452098420 Xp21.1 X 32491392T> C null Y C 836 836 missense 0.987 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs781490559 Xp21.1 X 32491390T> C null N D 837 837 2.65E-4 missense 0.007 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042351 Xp21.1 X 32491387G> A null Q * 838 838 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs398123892 Xp21.1 X 32491381G> A null Q * 840 840 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs398123892 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491381G> C null Q E 840 840 missense 0.108 benign 0.74 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000697595 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs398123892 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491381G> T null Q K 840 840 missense 0.458 possibly damaging 0.49 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001232021 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773521353 Xp21.1 X 32491380T> G null Q P 840 840 missense 0.877 possibly damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs886043707 Xp21.1 X 32491377_32491379TGT[1 ] null Q null 841 841 inframe deletion 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603634743 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491370de l null E null 843 843 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990706 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs202167701 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491371T> A null E V 843 843 missense 0.991 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990707 A0A075B6G3 DMD Dystrophin dbSNP rs768892830 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491369G> A null Q * 844 844 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000991291 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs768892830 Xp21.1 X 32491369G> C null Q E 844 844 missense 0.155 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs768892830 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp21.1 X 32491369G> T null Q K 844 844 missense 0.155 benign 0.52 tolerated 1 A0A075B6G3 DMD Dystrophin ESP,ExAC rs149564232 Xp21.1 X 32491366T> G null M L 845 845 missense 0.007 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs780438339 Xp21.1 X 32491362G> C null T R 846 846 missense 0.306 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138145424 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491360T> C null T A 847 847 2.65E-4 missense 0.089 benign 0.75 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000685504 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1198313614 Xp21.1 X 32491359G> C null T S 847 847 missense 0.022 benign 0.73 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs889229926 Xp21.1 X 32491357T> A null T S 848 848 missense 0.0 benign 0.67 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123895 Xp21.1 X 32491352de l null E null 850 850 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753665097 Xp21.1 X 32491348T> C null N D 851 851 missense 0.012 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs753665097 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491348T> G null N H 851 851 missense 0.77 possibly damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000464830 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1429329309 Xp21.1 X 32491343C> T null W * 852 852 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1064793964 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491344C> T null W * 852 852 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001042761 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1429329309 Xp21.1 X 32491343C> A null W C 852 852 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1064793964 Xp21.1 X 32491344C> A null W L 852 852 missense 0.101 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1372656209 Xp21.1 X 32491335A> G null I T 855 855 missense 0.0 benign 0.64 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1260521982 Xp21.1 X 32491332T> G null Q P 856 856 missense 0.006 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1302325394 Xp21.1 X 32491329G> A null P L 857 857 missense 0.001 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs552275776 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491330G> A null P S 857 857 0.002649 missense 0.0 benign 0.6 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000465012 A0A075B6G3 DMD Dystrophin dbSNP rs1603634742 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491325_32491331de l null T null 858 858 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990705 A0A075B6G3 DMD Dystrophin gnomAD rs398123896 Xp21.1 X 32491326G> A null T I 858 858 missense 0.003 benign 0.45 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs398123896 Xp21.1 X 32491326G> T null T N 858 858 missense 0.009 benign 0.33 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs752670585 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491327T> A null T S 858 858 missense 0.009 benign 0.56 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630562 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs187926894 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491324T> A null T S 859 859 2.65E-4 missense 0.001 benign 0.85 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000463804 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs754502808 Xp21.1 X 32491320G> A null P L 860 860 missense 0.0 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs754502808 Xp21.1 X 32491320G> T null P Q 860 860 missense 0.006 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs398123897 Xp21.1 X 32491318A> T null S T 861 861 missense 0.001 benign 0.4 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557383527 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491314T> C null E G 862 862 missense 0.471 possibly damaging 0.12 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000525281 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751150633 Xp21.1 X 32491308G> A null T I 864 864 missense 0.005 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751150633 Xp21.1 X 32491308G> C null T R 864 864 missense 0.088 benign 0.44 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1382610511 Xp21.1 X 32491300T> C null K E 867 867 missense 0.022 benign 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs766057861 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 Xp21.1 X 32491299T> C null K R 867 867 missense 0.003 benign 0.37 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs766057861 Xp21.1 X 32491299T> G null K T 867 867 missense 0.037 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs886042348 Xp21.1 X 32491296de l null S null 868 868 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727322 Xp21.1 X 32491299_32491300de l null Q null 869 869 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs398123898 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491292C> G null Q H 869 869 missense 0.099 benign 0.09 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000861823 A0A075B6G3 DMD Dystrophin dbSNP rs398123898 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491292C> A null Q H 869 869 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000796302 A0A075B6G3 DMD Dystrophin gnomAD rs1367180372 Xp21.1 X 32491289T> A null L F 870 870 missense 0.965 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224987 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491288T> A null K * 871 871 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201029 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs398123899 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491287T> G null K T 871 871 2.65E-4 missense 0.01 benign 0.11 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001168042 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs398123899 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491287T> G null K T 871 871 2.65E-4 missense 0.01 benign 0.11 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630620 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557383485 Xp21.1 X 32491285T> A null I F 872 872 missense 0.056 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs141423865 Xp21.1 X 32491283A> C null I M 872 872 missense 0.003 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs200872948 Xp21.1 X 32491282A> C null C G 873 873 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs200872948 [ClinVar]: Myopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491282A> G null C R 873 873 missense 0.974 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000820116 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs200872948 [ClinVar]: Myopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32491282A> G null C R 873 873 missense 0.974 probably damaging 0.0 deleterious 0 Myopathy ClinVar:RCV001195878 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs376771463 Xp21.1 X 32491279T> C null K E 874 874 missense 0.155 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs869025382 [ClinVar]: Primary familial hypertrophic cardiomyopathy Xp21.1 X 32485094T> A null E D 876 876 missense 0.885 possibly damaging 0.03 deleterious 0 Primary familial hypertrophic cardiomyopathy (HCM) MIM:PS192600 pubmed:14607462,pubmed:20301725,pubmed:21810866,pubmed:25173338,ClinVar:RCV000208431 A0A075B6G3 DMD Dystrophin TOPMed rs1040401556 Xp21.1 X 32485096C> T null E K 876 876 missense 0.674 possibly damaging 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569564731 Xp21.1 X 32485095T> A null E V 876 876 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs769516870 Xp21.1 X 32485092A> C null V G 877 877 missense 0.003 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC rs774459142 Xp21.1 X 32485093C> T null V I 877 877 missense 0.003 benign 0.84 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044277 Xp21.1 X 32485084_32485086delinsAA T null R H 879 879 missense 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886044267 Xp21.1 X 32485086C> T null R Q 879 879 missense 0.003 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603634614 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32485087G> A null R W 879 879 missense 0.432 benign 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000821036 A0A075B6G3 DMD Dystrophin dbSNP rs1557380685 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32485084de l null L null 880 880 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630534 A0A075B6G3 DMD Dystrophin dbSNP rs747937552 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32485080G> T null S * 881 881 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990703 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747937552 Xp21.1 X 32485080G> A null S L 881 881 missense 0.051 benign 0.48 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557380670 Xp21.1 X 32485078de l null G null 882 882 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs228406 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32485077 = null D = 882 882 missense 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000576731,ClinVar:RCV001027921 A0A075B6G3 DMD Dystrophin dbSNP rs228406 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32485077 = null D = 882 882 missense 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV001027921 A0A075B6G3 DMD Dystrophin dbSNP rs228406 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32485077 = null D = 882 882 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000206108,ClinVar:RCV000576731,ClinVar:RCV001027921 A0A075B6G3 DMD Dystrophin dbSNP rs228406 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32485077 = null D = 882 882 missense 0 Dystrophin deficiency ClinVar:RCV001027921 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs228406 Xp21.1 X 32485077T> C null D G 882 882 0.2517 missense 0.0 benign 0.48 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs228406 Xp21.1 X 32485077T> A null D V 882 882 0.2517 missense 0.0 benign 0.24 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1236074671 Xp21.1 X 32485075G> T null L I 883 883 missense 0.55 possibly damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123903 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32485072G> A null Q * 884 884 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000176203 A0A075B6G3 DMD Dystrophin gnomAD rs1335534133 Xp21.1 X 32485069G> A null P S 885 885 missense 0.025 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs754893725 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32485066G> C null Q E 886 886 missense 0.017 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1176319357 Xp21.1 X 32485065T> A null Q L 886 886 missense 0.535 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC rs746990716 Xp21.1 X 32485058T> G null E D 888 888 missense 0.552 possibly damaging 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1060502639 cosmic curated [ClinVar]: Dystrophinopathies, [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 Xp21.1 X 32485057G> A null R * 889 889 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000474172 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1060502639 cosmic curated [ClinVar]: Dystrophinopathies, [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 Xp21.1 X 32485057G> A null R * 889 889 missense 1 Dystrophinopathies The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). pubmed:20301298,ClinVar:RCV001193188 A0A075B6G3 DMD Dystrophin gnomAD rs1060502639 Xp21.1 X 32485057G> C null R G 889 889 missense 0.068 benign 0.32 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs779579811 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 32485056C> T null R Q 889 889 missense 0.0 benign 0.95 tolerated 1 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557380616 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32485053A> T null L * 890 890 stop gained 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000582450 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557380616 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32485053A> T null L * 890 890 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000584311 A0A075B6G3 DMD Dystrophin gnomAD rs1437410198 Xp21.1 X 32485052T> A null L F 890 890 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1346550111 Xp21.1 X 32485054A> T null L I 890 890 missense 0.872 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1243834453 Xp21.1 X 32485048T> A null I F 892 892 missense 0.106 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs886497969 Xp21.1 X 32485047A> G null I T 892 892 missense 0.0 benign 0.4 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1216832424 Xp21.1 X 32485045G> T null Q K 893 893 missense 0.007 benign 0.48 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1205562340 Xp21.1 X 32485044T> C null Q R 893 893 missense 0.007 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1264837348 Xp21.1 X 32485042T> C null S G 894 894 missense 0.0 benign 0.41 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs369648601 Xp21.1 X 32485030T> C null K E 898 898 missense 0.037 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs754244555 Xp21.1 X 32485028T> G null K N 898 898 missense 0.003 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs754244555 Xp21.1 X 32485028T> A null K N 898 898 missense 0.003 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603634609 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32485030du p null E null 899 899 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990702 A0A075B6G3 DMD Dystrophin gnomAD rs1351185153 Xp21.1 X 32485025C> A null E D 899 899 missense 0.06 benign 0.36 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557380569 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32485023T> A null K I 900 900 missense 0.272 benign 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000700632 A0A075B6G3 DMD Dystrophin dbSNP rs1603634608 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32485018G> A null Q * 902 902 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000819083 A0A075B6G3 DMD Dystrophin dbSNP rs1603634607 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32485015de l null G null 903 903 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990701 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753174365 Xp21.1 X 32485012G> C null P A 904 904 missense 0.756 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1336825710 Xp21.1 X 32485011G> A null P L 904 904 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753174365 Xp21.1 X 32485012G> A null P S 904 904 missense 0.835 possibly damaging 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753174365 Xp21.1 X 32485012G> T null P T 904 904 missense 0.674 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1454170307 Xp21.1 X 32485008A> T null M K 905 905 missense 0.071 benign 0.92 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1454170307 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32485008A> G null M T 905 905 missense 0.023 benign 0.57 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630491 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs375557173 Xp21.1 X 32485005A> C null F C 906 906 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs375557173 Xp21.1 X 32485005A> G null F S 906 906 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502654 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32485002A> G null L P 907 907 missense 0.993 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000472123 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs372780045 Xp21.1 X 32484998A> C null D E 908 908 missense 0.005 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs774562228 Xp21.1 X 32484999T> C null D G 908 908 missense 0.011 benign 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs774562228 Xp21.1 X 32484999T> A null D V 908 908 missense 0.513 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759543460 Xp21.1 X 32485000C> A null D Y 908 908 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502616 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32484997C> T null A T 909 909 missense 0.66 possibly damaging 0.14 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000468817 A0A075B6G3 DMD Dystrophin ESP,TOPMed,dbSNP,gnomAD rs370014420 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32484996G> A null A V 909 909 missense 0.839 possibly damaging 0.14 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000550207 A0A075B6G3 DMD Dystrophin TOPMed rs1362677947 cosmic curated [Cosmic]: prostate pubmed:22722839,cosmic_study:391 Xp21.1 X 32484992G> C null D E 910 910 missense 0.937 probably damaging 0.03 deleterious 1 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1469818959 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32484993T> A null D V 910 910 missense 0.986 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000794494 A0A075B6G3 DMD Dystrophin dbSNP rs1557380496 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32484991du p null V null 912 912 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000462905 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs201549805 Xp21.1 X 32484988C> A null V L 912 912 2.65E-4 missense 0.0 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs201549805 Xp21.1 X 32484988C> G null V L 912 912 2.65E-4 missense 0.0 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,dbSNP,gnomAD rs201549805 Xp21.1 X 32484988C> T null V M 912 912 2.65E-4 missense 0.172 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs930760657 Xp21.1 X 32484985C> G null A P 913 913 missense 0.983 probably damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs930760657 Xp21.1 X 32484985C> T null A T 913 913 missense 0.939 probably damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1460078058 Xp21.1 X 32484978G> T null T K 915 915 missense 0.005 benign 0.89 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs776382588 Xp21.1 X 32484979T> G null T P 915 915 missense 0.005 benign 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs727503850 Xp21.1 X 32484967T> A null K * 919 919 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed rs398123905 Xp21.1 X 32484964G> A null Q * 920 920 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed rs398123905 Xp21.1 X 32484964G> C null Q E 920 920 missense 0.023 benign 0.48 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs779873011 Xp21.1 X 32484960A> G null V A 921 921 missense 0.028 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs746919167 Xp21.1 X 32484961C> A null V F 921 921 missense 0.517 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs779873011 Xp21.1 X 32484960A> C null V G 921 921 missense 0.579 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs185395584 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32484958A> C null F V 922 922 2.65E-4 missense 0.015 benign 0.19 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630507 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1055371114 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32484946G> A null Q * 926 926 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630530 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1055371114 Xp21.1 X 32484946G> T null Q K 926 926 missense 0.009 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs867046331 Xp21.1 X 32484943C> A null A S 927 927 missense 0.005 benign 0.63 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs867046331 Xp21.1 X 32484943C> T null A T 927 927 missense 0.003 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs41312094 Xp21.1 X 32484942G> A null A V 927 927 2.65E-4 missense 0.062 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs772679497 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32484937C> T null E K 929 929 missense 0.009 benign 0.13 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000809112 A0A075B6G3 DMD Dystrophin dbSNP rs1603634604 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32484929_32484930CT[1 ] null E null 931 931 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990700 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs128625227 [ClinVar]: Duchenne muscular dystrophy pubmed:1549596 Xp21.1 X 32484931C> A null E * 931 931 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011960 A0A075B6G3 DMD Dystrophin TOPMed rs128625227 Xp21.1 X 32484931C> T null E K 931 931 missense 0.061 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1214655002 Xp21.1 X 32484928G> C null L V 932 932 missense 0.992 probably damaging 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs756949497 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32484925G> A null Q * 933 933 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201047 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756949497 Xp21.1 X 32484925G> T null Q K 933 933 missense 0.009 benign 0.45 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs190247714 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32472309A> C null I S 935 935 7.95E-4 missense 0.005 benign 0.73 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000475423 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753582196 Xp21.1 X 32484919T> C null I V 935 935 missense 0.0 benign 0.29 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs768386277 Xp21.1 X 32472303T> C null D G 937 937 missense 0.03 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760391667 Xp21.1 X 32472301T> G null T P 938 938 missense 0.104 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727358 Xp21.1 X 32472298_32472299de l null L null 939 939 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123910 Xp21.1 X 32472297A> T null L * 939 939 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1417425570 Xp21.1 X 32472295G> A null P S 940 940 missense 0.444 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs373914964 Xp21.1 X 32472291G> A null P L 941 941 missense 0.127 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1477425663 Xp21.1 X 32472292G> A null P S 941 941 missense 0.014 benign 0.38 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1477425663 Xp21.1 X 32472292G> T null P T 941 941 missense 0.007 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs745868553 Xp21.1 X 32472287C> T null M I 942 942 missense 0.0 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs371648742 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32472289T> C null M V 942 942 0.00106 missense 0.0 benign 0.23 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001084984 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs199986217 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32472286G> A null R C 943 943 2.65E-4 missense 0.663 possibly damaging 0.01 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167433 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs199986217 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32472286G> A null R C 943 943 2.65E-4 missense 0.663 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990698 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs398123911 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32472285C> T null R H 943 943 missense 0.003 benign 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs199986217 Xp21.1 X 32472286G> T null R S 943 943 2.65E-4 missense 0.017 benign 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1234700953 Xp21.1 X 32472277C> G null E Q 946 946 missense 0.771 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs186628781 Xp21.1 X 32472271T> G null M L 948 948 2.65E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs186628781 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32472271T> C null M V 948 948 2.65E-4 missense 0.001 benign 0.26 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000868928 A0A075B6G3 DMD Dystrophin Ensembl rs1569564283 Xp21.1 X 32472268T> C null S G 949 949 missense 0.003 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057522383 Xp21.1 X 32472267C> T null S N 949 949 missense 0.001 benign 0.33 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs794728997 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32472265C> T null A T 950 950 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000542003 A0A075B6G3 DMD Dystrophin dbSNP rs1603634299 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32472260de l null R null 952 952 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990697 A0A075B6G3 DMD Dystrophin gnomAD rs1403559079 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 Xp21.1 X 32472257C> A null R S 952 952 missense 0.006 benign 0.13 tolerated 1 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs142133195 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32472255G> A null T I 953 953 missense 0.037 benign 0.18 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000530235 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043909 Xp21.1 X 32472252C> T null W * 954 954 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502657 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32472250C> A null V F 955 955 missense 0.056 benign 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000457796 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs781661927 Xp21.1 X 32472249A> C null V G 955 955 missense 0.104 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123912 Xp21.1 X 32472247G> A null Q * 956 956 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs755414598 Xp21.1 X 32472246T> C null Q R 956 956 missense 0.038 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603634298 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32472244G> A null Q * 957 957 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000797527 A0A075B6G3 DMD Dystrophin gnomAD rs1352857504 Xp21.1 X 32472237T> A null E V 959 959 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1169985711 Xp21.1 X 32472234G> A null T I 960 960 missense 0.034 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs150959827 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32472229G> C null L V 962 962 missense 0.059 benign 0.29 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000545266 A0A075B6G3 DMD Dystrophin gnomAD rs1429983365 Xp21.1 X 32472225G> A null S F 963 963 missense 0.301 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1487164655 Xp21.1 X 32472226A> G null S P 963 963 missense 0.207 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1431281003 Xp21.1 X 32472220G> A null P S 965 965 missense 0.003 benign 0.52 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1431281003 Xp21.1 X 32472220G> T null P T 965 965 missense 0.005 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1424174974 Xp21.1 X 32472217G> C null Q E 966 966 missense 0.038 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP,gnomAD rs766400327 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32472213A> C null L R 967 967 missense 0.003 benign 0.56 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000685403 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs758490075 Xp21.1 X 32472211T> A null S C 968 968 missense 0.357 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1434901647 Xp21.1 X 32472207A> T null V D 969 969 missense 0.859 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs750582245 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp21.1 X 32472208C> T null V I 969 969 missense 0.196 benign 0.11 tolerated 1 A0A075B6G3 DMD Dystrophin TOPMed rs1376043336 Xp21.1 X 32472202C> T null D N 971 971 missense 0.013 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs762154042 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32472201T> A null D V 971 971 missense 0.169 benign 0.0 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000766089 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs762154042 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32472201T> A null D V 971 971 missense 0.169 benign 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000766089 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs762154042 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32472201T> A null D V 971 971 missense 0.169 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000694095,ClinVar:RCV000766089 A0A075B6G3 DMD Dystrophin dbSNP rs1569564281 Xp21.1 X 32472199de l null Y null 972 972 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed rs1159431849 Xp21.1 X 32472198T> C null Y C 972 972 missense 0.007 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs992957212 Xp21.1 X 32472191G> C null I M 974 974 missense 0.163 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1362713943 Xp21.1 X 32472188C> T null M I 975 975 missense 0.137 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775126865 Xp21.1 X 32472189A> G null M T 975 975 missense 0.036 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs767387334 Xp21.1 X 32472187C> T null E K 976 976 missense 0.834 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759350909 Xp21.1 X 32472182C> G null Q H 977 977 missense 0.286 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs759350909 Xp21.1 X 32472182C> A null Q H 977 977 missense 0.286 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727359 Xp21.1 X 32472180_32472181CT[1 ] null R null 978 978 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl rs955790502 Xp21.1 X 32472178G> C null L V 979 979 missense 0.747 possibly damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1057515875 [ClinVar]: Dilated cardiomyopathy 3B Xp21.1 X 32472174C> T null G E 980 980 missense 0.005 benign 0.33 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000259674 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs374102077 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32472175C> T null G R 980 980 missense 0.003 benign 0.53 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000707272 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557374492 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32472171T> C null E G 981 981 missense 0.003 benign 0.13 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000546176 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1455208108 Xp21.1 X 32468709G> C null A G 984 984 missense 0.79 possibly damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs398123916 Xp21.1 X 32468706A> T null L * 985 985 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs776362860 Xp21.1 X 32468705T> G null L F 985 985 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769382841 Xp21.1 X 32468707A> T null L I 985 985 missense 0.918 probably damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs727503844 Xp21.1 X 32468704G> A null Q * 986 986 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1386571829 Xp21.1 X 32468703T> A null Q L 986 986 missense 0.155 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1386571829 Xp21.1 X 32468703T> C null Q R 986 986 missense 0.236 benign 0.36 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603634207 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468700de l null S null 987 987 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990695 A0A075B6G3 DMD Dystrophin gnomAD rs1184694731 Xp21.1 X 32468700C> A null S I 987 987 missense 0.034 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1233380601 Xp21.1 X 32468692G> A null Q * 990 990 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed rs1233380601 Xp21.1 X 32468692G> C null Q E 990 990 missense 0.006 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs747374618 [ClinVar]: Primary dilated cardiomyopathy Xp21.1 X 32468688T> C null E G 991 991 missense 0.007 benign 0.09 tolerated 0 Primary dilated cardiomyopathy (DCM) Familial dilated cardiomyopathy is a genetic form of heart disease. pubmed:16839424,pubmed:20301486,pubmed:21810866,ClinVar:RCV000211494 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468667 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468689C> G null E Q 991 991 2.65E-4 missense 0.077 benign 0.17 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000467443 A0A075B6G3 DMD Dystrophin gnomAD rs398123917 Xp21.1 X 32468683G> A null Q * 993 993 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs398123917 Xp21.1 X 32468683G> C null Q E 993 993 missense 0.003 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs863224992 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468669G> C null Y * 997 997 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201111 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1244241099 Xp21.1 X 32468656T> C null T A 1002 1002 missense 0.017 benign 0.62 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1244241099 [ClinVar]: Dilated cardiomyopathy 1A, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468656T> A null T S 1002 1002 missense 0.281 benign 0.33 tolerated 0 Dilated cardiomyopathy 1A (CMD1A) LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias. MIM:115200 pubmed:20301486,pubmed:20301717,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV001256878 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1244241099 [ClinVar]: Dilated cardiomyopathy 1A, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468656T> A null T S 1002 1002 missense 0.281 benign 0.33 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001050261 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs746416489 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32468653C> T null V M 1003 1003 missense 0.124 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778820732 Xp21.1 X 32468648T> A null K N 1004 1004 missense 0.127 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603634206 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468647C> A null E * 1005 1005 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990694 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs757378668 Xp21.1 X 32468645C> A null E D 1005 1005 missense 0.005 benign 0.45 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes rs181448075 Xp21.1 X 32468642C> T null M I 1006 1006 2.65E-4 missense 0.0 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557372536 Xp21.1 X 32468644T> A null M L 1006 1006 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144732570 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468640G> T null S * 1007 1007 0.00106 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000696099 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144732570 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468640G> A null S L 1007 1007 0.00106 missense 0.062 benign 0.31 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630576 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs398123918 Xp21.1 X 32468638T> A null K * 1008 1008 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs398123918 Xp21.1 X 32468638T> C null K E 1008 1008 missense 0.021 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs965268691 Xp21.1 X 32468633T> A null K N 1009 1009 missense 0.005 benign 0.45 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs780896933 Xp21.1 X 32468631G> T null A E 1010 1010 2.65E-4 missense 0.869 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs766325631 Xp21.1 X 32468632C> G null A P 1010 1010 missense 0.843 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs766325631 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32468632C> A null A S 1010 1010 missense 0.135 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs780896933 Xp21.1 X 32468631G> A null A V 1010 1010 2.65E-4 missense 0.03 benign 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs982781720 Xp21.1 X 32468629G> A null P S 1011 1011 missense 0.172 benign 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs982781720 Xp21.1 X 32468629G> T null P T 1011 1011 missense 0.372 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs139772014 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468613C> T null R Q 1016 1016 missense 0.0 benign 0.92 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001083952 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs199808421 Xp21.1 X 32468614G> A null R W 1016 1016 2.65E-4 missense 0.54 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123919 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468601G> C null S * 1020 1020 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990693 A0A075B6G3 DMD Dystrophin Ensembl rs376163041 Xp21.1 X 32468586A> G null I T 1025 1025 missense 0.003 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123920 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468584C> A null E * 1026 1026 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990692 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs777817851 Xp21.1 X 32468583T> C null E G 1026 1026 2.65E-4 missense 0.096 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs370171367 Xp21.1 X 32468580C> G null G A 1027 1027 missense 0.0 benign 0.57 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs370171367 Xp21.1 X 32468580C> T null G E 1027 1027 missense 0.003 benign 0.73 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs146384458 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468578G> A null R C 1028 1028 2.65E-4 missense 0.134 benign 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001078952 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs746322769 Xp21.1 X 32468577C> T null R H 1028 1028 missense 0.029 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs398123921 Xp21.1 X 32468573C> T null W * 1029 1029 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs398123921 Xp21.1 X 32468573C> G null W C 1029 1029 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs779485493 Xp21.1 X 32468574C> A null W L 1029 1029 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1220406312 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468567C> A null K N 1031 1031 missense 0.055 benign 0.01 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167429 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1220406312 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468567C> A null K N 1031 1031 missense 0.055 benign 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630522 A0A075B6G3 DMD Dystrophin gnomAD rs1315915548 Xp21.1 X 32468566G> T null L I 1032 1032 missense 0.028 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1277480435 Xp21.1 X 32468565A> G null L P 1032 1032 missense 0.782 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs377415288 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 32468562G> A null S F 1033 1033 missense 0.272 benign 0.02 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777773257 Xp21.1 X 32468563A> T null S T 1033 1033 missense 0.131 benign 0.4 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727380 cosmic curated [Cosmic]: skin, [ClinVar]: Duchenne muscular dystrophy pubmed:22842228,cosmic_study:511 Xp21.1 X 32468559G> A null S F 1034 1034 missense 0.182 benign 0.07 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000818943 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA rs753006232 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary cosmic_study:375,cosmic_study:585 Xp21.1 X 32468557G> T null Q K 1035 1035 missense 0.003 benign 1.0 tolerated 1 A0A075B6G3 DMD Dystrophin gnomAD rs1299331711 Xp21.1 X 32468554G> C null L V 1036 1036 missense 0.051 benign 0.69 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603634203 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468549_32468550de l null V null 1037 1037 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990691 A0A075B6G3 DMD Dystrophin dbSNP rs1603634202 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468541C> A null C F 1040 1040 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000822724 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626245 [ClinVar]: Duchenne muscular dystrophy pubmed:7951253 Xp21.1 X 32468539G> A null Q * 1041 1041 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012005 A0A075B6G3 DMD Dystrophin Ensembl rs398123927 Xp21.1 X 32468536T> A null K * 1042 1042 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs750263324 Xp21.1 X 32468525C> A null E D 1045 1045 missense 0.005 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1331402704 Xp21.1 X 32468527C> T null E K 1045 1045 missense 0.272 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,TOPMed,gnomAD rs373495745 Xp21.1 X 32468526T> A null E V 1045 1045 missense 0.625 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs765216657 Xp21.1 X 32468521T> A null M L 1047 1047 missense 0.0 benign 0.49 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs367906493 Xp21.1 X 32468517T> C null N S 1048 1048 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1376254107 Xp21.1 X 32468512G> A null L F 1050 1050 missense 0.749 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123929 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32468509G> A null R * 1051 1051 stop gained 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000763210 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123929 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32468509G> A null R * 1051 1051 stop gained 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000763210 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123929 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32468509G> A null R * 1051 1051 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201197,ClinVar:RCV000763210 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs761715369 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 Xp21.1 X 32468508C> T null R Q 1051 1051 missense 0.01 benign 0.49 tolerated 1 A0A075B6G3 DMD Dystrophin dbSNP rs1603634199 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32468507du p null I null 1053 1053 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990690 A0A075B6G3 DMD Dystrophin TOPMed rs1414538851 Xp21.1 X 32468498C> A null Q H 1054 1054 missense 0.976 probably damaging 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs757192472 Xp21.1 X 32464695T> C null H R 1056 1056 missense 0.173 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1057515874 [ClinVar]: Dilated cardiomyopathy 3B Xp21.1 X 32464693T> C null I V 1057 1057 missense 0.009 benign 1.0 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000370724 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs762258174 Xp21.1 X 32464689T> C null Q R 1058 1058 2.65E-4 missense 0.009 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs763548540 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32464687T> C null T A 1059 1059 missense 0.108 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1311063453 Xp21.1 X 32464686G> A null T I 1059 1059 missense 0.171 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044690 Xp21.1 X 32464684G> T null L M 1060 1060 missense 0.729 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs190014284 Xp21.1 X 32464680T> C null K R 1061 1061 5.3E-4 missense 0.009 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626246 [ClinVar]: Duchenne muscular dystrophy pubmed:7951253 Xp21.1 X 32464674C> T null W * 1063 1063 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012006 A0A075B6G3 DMD Dystrophin ExAC rs759164773 Xp21.1 X 32464670C> G null M I 1064 1064 missense 0.003 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs140106769 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32464671A> G null M T 1064 1064 missense 0.038 benign 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001241260 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1281398911 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32464672T> C null M V 1064 1064 missense 0.007 benign 0.07 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000698975 A0A075B6G3 DMD Dystrophin dbSNP rs1603634105 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32464670de l null A null 1065 1065 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990689 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs774756042 Xp21.1 X 32464669C> G null A P 1065 1065 missense 0.498 possibly damaging 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1334068605 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32464664T> G null E D 1066 1066 missense 0.009 benign 0.69 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000798238 A0A075B6G3 DMD Dystrophin Ensembl rs1569563754 Xp21.1 X 32464662A> G null V A 1067 1067 missense 0.421 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1049100863 Xp21.1 X 32464657C> A null V F 1069 1069 missense 0.964 probably damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs398123931 Xp21.1 X 32464645C> A null E * 1073 1073 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs398123931 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32464645C> T null E K 1073 1073 missense 0.099 benign 0.45 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001257055 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569563751 Xp21.1 X 32464642C> A null E * 1074 1074 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed rs1422639014 Xp21.1 X 32464636G> A null P S 1076 1076 missense 0.155 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs375329908 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32464630G> A null L F 1078 1078 missense 0.655 possibly damaging 0.23 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000811104 A0A075B6G3 DMD Dystrophin dbSNP rs886043052 Xp21.1 X 32464627de l null D null 1080 1080 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886043493 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32464623T> C null D G 1080 1080 missense 0.976 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001070295 A0A075B6G3 DMD Dystrophin Ensembl rs916706146 Xp21.1 X 32464624C> G null D H 1080 1080 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs916706146 Xp21.1 X 32464624C> A null D Y 1080 1080 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs776909577 Xp21.1 X 32464620G> A null S L 1081 1081 missense 0.003 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs768977119 cosmic curated [Cosmic]: endometrium cosmic_study:419 Xp21.1 X 32464616T> A null E D 1082 1082 missense 0.109 benign 0.23 tolerated 1 A0A075B6G3 DMD Dystrophin dbSNP rs1569563740 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32464610de l null K null 1086 1086 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990688 A0A075B6G3 DMD Dystrophin 1000Genomes rs745585519 Xp21.1 X 32464606T> C null K E 1086 1086 2.65E-4 missense 0.014 benign 0.33 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1447405537 Xp21.1 X 32464605T> G null K T 1086 1086 missense 0.171 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569563740 Xp21.1 X 32464610du p null Q null 1087 1087 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886039536 Xp21.1 X 32464603G> A null Q * 1087 1087 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557369991 [ClinVar]: Duchenne muscular dystrophy pubmed:31671740 Xp21.1 X 32464594G> A null Q * 1090 1090 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630553 A0A075B6G3 DMD Dystrophin dbSNP rs373475857 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32464592C> A null Q H 1090 1090 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000821219 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs747239076 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32464593T> A null Q L 1090 1090 missense 0.962 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001257067 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569563736 cosmic curated [ClinVar]: Duchenne muscular dystrophy, [Cosmic]: oesophagus cosmic_study:582 Xp21.1 X 32464591A> C null C G 1091 1091 missense 0.979 probably damaging 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000693389 A0A075B6G3 DMD Dystrophin TOPMed rs1402060578 Xp21.1 X 32464590C> T null C Y 1091 1091 missense 0.618 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569563734 Xp21.1 X 32464587C> A null R I 1092 1092 missense 0.098 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs775903979 Xp21.1 X 32463594G> A null L F 1093 1093 missense 0.424 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1263623551 Xp21.1 X 32463589T> A null L F 1094 1094 missense 0.174 benign 0.48 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs876657778 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463590A> G null L S 1094 1094 missense 0.974 probably damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001237021 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs183819382 Xp21.1 X 32463588C> A null V F 1095 1095 2.65E-4 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs183819382 Xp21.1 X 32463588C> G null V L 1095 1095 2.65E-4 missense 0.395 benign 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs776821400 Xp21.1 X 32463584C> A null S I 1096 1096 missense 0.009 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1215676467 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463579T> C null I V 1098 1098 missense 0.835 possibly damaging 0.04 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000793096 A0A075B6G3 DMD Dystrophin dbSNP rs1603634079 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463575_32463576de l null Q null 1099 1099 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990687 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs398123935 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32463576G> A null Q * 1099 1099 stop gained 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000176552 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs398123935 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32463576G> A null Q * 1099 1099 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000176553 A0A075B6G3 DMD Dystrophin Ensembl rs1569563685 Xp21.1 X 32463570T> C null I V 1101 1101 missense 0.131 benign 0.41 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557369493 Xp21.1 X 32463559_32463563de l null S null 1104 1104 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1009754942 Xp21.1 X 32463560C> T null S N 1104 1104 missense 0.174 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1009754942 Xp21.1 X 32463560C> G null S T 1104 1104 missense 0.525 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1346521535 Xp21.1 X 32463554T> G null N T 1106 1106 missense 0.0 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs768653489 Xp21.1 X 32463551C> A null S I 1107 1107 missense 0.859 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs200596739 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463545T> A null N I 1109 1109 missense 0.906 possibly damaging 0.06 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165857 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs200596739 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463545T> A null N I 1109 1109 missense 0.906 possibly damaging 0.06 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001083491 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs200596739 Xp21.1 X 32463545T> C null N S 1109 1109 missense 0.09 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs749075801 Xp21.1 X 32463539C> T null G D 1111 1111 missense 0.038 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs777598938 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463537C> T null G R 1112 1112 missense 0.394 benign 0.06 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001053247 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777598938 Xp21.1 X 32463537C> A null G W 1112 1112 missense 0.729 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs748123444 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Becker muscular dystrophy Xp21.1 X 32463527A> G null I T 1115 1115 missense 0.038 benign 0.0 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000766088 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs748123444 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Becker muscular dystrophy Xp21.1 X 32463527A> G null I T 1115 1115 missense 0.038 benign 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000766088 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs748123444 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Becker muscular dystrophy Xp21.1 X 32463527A> G null I T 1115 1115 missense 0.038 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000766088 A0A075B6G3 DMD Dystrophin gnomAD rs1425553271 cosmic curated [Cosmic]: large_intestine cosmic_study:376 Xp21.1 X 32463523C> G null K N 1116 1116 missense 0.088 benign 0.03 deleterious 1 A0A075B6G3 DMD Dystrophin gnomAD rs1192587921 Xp21.1 X 32463521T> C null N S 1117 1117 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1487265817 Xp21.1 X 32463515G> C null A G 1119 1119 missense 0.954 probably damaging 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569563678 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463513C> A null E * 1120 1120 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000714701 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557369441 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463509G> C null P R 1121 1121 missense 0.251 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630513 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs150653420 Xp21.1 X 32463510G> A null P S 1121 1121 missense 0.023 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1057518284 Xp21.1 X 32463505_32463506CT[1 ] null E null 1122 1122 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1057518284 Xp21.1 X 32463505_32463506CT[3 ] null F null 1123 1123 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1256772465 Xp21.1 X 32463500G> A null A V 1124 1124 missense 0.124 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs374744331 Xp21.1 X 32463497G> T null S * 1125 1125 stop gained 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs374744331 Xp21.1 X 32463497G> A null S L 1125 1125 missense 0.006 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs374744331 Xp21.1 X 32463497G> C null S W 1125 1125 missense 0.672 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs141887693 Xp21.1 X 32463492G> T null L I 1127 1127 missense 0.037 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs141887693 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32463492G> C null L V 1127 1127 missense 0.012 benign 0.9 tolerated 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV001027922 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs141887693 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32463492G> C null L V 1127 1127 missense 0.012 benign 0.9 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV001027922 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs141887693 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32463492G> C null L V 1127 1127 missense 0.012 benign 0.9 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000902549,ClinVar:RCV001027922 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs141887693 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32463492G> C null L V 1127 1127 missense 0.012 benign 0.9 tolerated 0 Dystrophin deficiency ClinVar:RCV001027922 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794728998 Xp21.1 X 32463489C> G null E Q 1128 1128 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762374228 Xp21.1 X 32463483C> G null E Q 1130 1130 missense 0.138 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557369413 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463483_32463484du p null L null 1131 1131 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630529 A0A075B6G3 DMD Dystrophin Ensembl rs200472080 Xp21.1 X 32463476T> C null K R 1132 1132 missense 0.003 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,dbSNP,gnomAD rs753384771 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463468T> C null N D 1135 1135 2.65E-4 missense 0.32 benign 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630511 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3827462 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463465T> A null T S 1136 1136 0.01695 missense 0.003 benign 0.42 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000313769 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3827462 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463465T> A null T S 1136 1136 0.01695 missense 0.003 benign 0.42 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000470917 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3827462 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463465T> A null T S 1136 1136 0.01695 missense 0.003 benign 0.42 tolerated 0 Primary dilated cardiomyopathy (DCM) Familial dilated cardiomyopathy is a genetic form of heart disease. pubmed:16839424,pubmed:20301486,pubmed:21810866,ClinVar:RCV000211434 A0A075B6G3 DMD Dystrophin gnomAD rs1329266077 Xp21.1 X 32463460C> A null Q H 1137 1137 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044406 Xp21.1 X 32463458C> T null W * 1138 1138 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775703095 Xp21.1 X 32463455T> C null D G 1139 1139 missense 0.304 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1464988987 Xp21.1 X 32463456C> T null D N 1139 1139 missense 0.047 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201297190 [ClinVar]: Dilated cardiomyopathy 1A Xp21.1 X 32463452T> A null H L 1140 1140 2.65E-4 missense 0.003 benign 0.47 tolerated 0 Dilated cardiomyopathy 1A (CMD1A) LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias. MIM:115200 pubmed:20301486,pubmed:20301717,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV001256876 A0A075B6G3 DMD Dystrophin gnomAD rs1431223068 Xp21.1 X 32463451G> T null H Q 1140 1140 missense 0.006 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201297190 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463452T> C null H R 1140 1140 2.65E-4 missense 0.038 benign 0.49 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001081258 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042873 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463449A> C null M R 1141 1141 missense 0.138 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001203790 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772957337 Xp21.1 X 32463447A> G null C R 1142 1142 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224993 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32463444G> A null Q * 1143 1143 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201074 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs769607822 Xp21.1 X 32463443T> C null Q R 1143 1143 missense 0.0 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs748029344 Xp21.1 X 32463440T> G null Q P 1144 1144 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs767442827 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32454832C> G null V L 1145 1145 2.65E-4 missense 0.02 benign 0.85 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000973337 A0A075B6G3 DMD Dystrophin Ensembl rs201328377 Xp21.1 X 32454828T> A null Y F 1146 1146 missense 0.173 benign 0.41 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1314821011 Xp21.1 X 32454822C> A null R I 1148 1148 missense 0.419 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,dbSNP,gnomAD rs144667422 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32454820T> C null K E 1149 1149 2.65E-4 missense 0.804 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001088792 A0A075B6G3 DMD Dystrophin gnomAD rs935082261 Xp21.1 X 32454818C> A null K N 1149 1149 missense 0.279 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs935082261 Xp21.1 X 32454818C> G null K N 1149 1149 missense 0.279 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123940 Xp21.1 X 32454819T> C null K R 1149 1149 missense 0.346 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123940 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32454819T> G null K T 1149 1149 missense 0.939 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165856 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123940 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32454819T> G null K T 1149 1149 missense 0.939 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000461184 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs142967431 [ClinVar]: Dilated cardiomyopathy 3B Xp21.1 X 32454815C> A null E D 1150 1150 missense 0.029 benign 0.53 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000275049 A0A075B6G3 DMD Dystrophin dbSNP rs1603633868 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32454805C> A null G * 1154 1154 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990686 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs774624660 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32454804C> A null G V 1154 1154 2.65E-4 missense 0.169 benign 0.04 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001228918 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs745464638 Xp21.1 X 32454801C> A null G V 1155 1155 missense 0.415 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128625226 [ClinVar]: Duchenne muscular dystrophy pubmed:2071150 Xp21.1 X 32454796C> A null E * 1157 1157 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011958 A0A075B6G3 DMD Dystrophin gnomAD rs1157651545 Xp21.1 X 32454795T> A null E V 1157 1157 missense 0.781 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs182728059 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32454793T> C null K E 1158 1158 2.65E-4 missense 0.323 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630618 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs757041202 Xp21.1 X 32454789G> A null T I 1159 1159 missense 0.872 possibly damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603633867 Xp21.1 X 32454787_32454788de l null V null 1160 1160 frameshift 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs371273141 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32454783C> T null S N 1161 1161 missense 0.001 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000805634 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1064793986 cosmic curated [Cosmic]: stomach pubmed:22484628,cosmic_study:480 Xp21.1 X 32454778G> A null Q * 1163 1163 missense 1 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs763624170 Xp21.1 X 32454776C> G null Q H 1163 1163 2.65E-4 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs763624170 Xp21.1 X 32454776C> A null Q H 1163 1163 2.65E-4 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1032762656 Xp21.1 X 32454773T> A null K N 1164 1164 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1349052255 Xp21.1 X 32454772C> A null D Y 1165 1165 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727421 Xp21.1 X 32454768_32454771de l null L null 1166 1166 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs753274868 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:440 Xp21.1 X 32454769G> T null L I 1166 1166 missense 0.833 possibly damaging 0.01 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs753274868 Xp21.1 X 32454769G> C null L V 1166 1166 missense 0.833 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569563278 Xp21.1 X 32454765G> C null S * 1167 1167 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123941 Xp21.1 X 32454763C> A null E * 1168 1168 stop gained 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs367683746 Xp21.1 X 32454760T> C null M V 1169 1169 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1210629851 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32454757G> A null H Y 1170 1170 missense 0.491 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000684897 A0A075B6G3 DMD Dystrophin Ensembl rs1569563277 Xp21.1 X 32454753T> G null E A 1171 1171 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1263708289 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 Xp21.1 X 32454754C> T null E K 1171 1171 missense 0.953 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin Ensembl rs865974846 Xp21.1 X 32454749C> A null W C 1172 1172 missense 1.0 probably damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603633864 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32454729_32454732de l null E null 1178 1178 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990685 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs727503836 Xp21.1 X 32454733C> A null E * 1178 1178 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs794727422 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32454730C> A null E * 1179 1179 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs766582625 Xp21.1 X 32454727A> T null Y N 1180 1180 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs763213050 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32454724G> A null L F 1181 1181 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs374993642 Xp21.1 X 32454717C> G null R T 1183 1183 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763981640 Xp21.1 X 32454713A> T null D E 1184 1184 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs868836192 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32454709C> A null E * 1186 1186 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl rs942471417 Xp21.1 X 32454708T> A null E V 1186 1186 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760481477 Xp21.1 X 32454705T> C null Y C 1187 1187 missense 0.723 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760481477 Xp21.1 X 32454705T> A null Y F 1187 1187 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1297230760 Xp21.1 X 32454706A> G null Y H 1187 1187 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs911066343 Xp21.1 X 32454696G> T null P Q 1190 1190 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1205077446 Xp21.1 X 32454692A> C null D E 1191 1191 missense 0.005 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs745370476 Xp21.1 X 32454693T> C null D G 1191 1191 missense 0.339 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1456963556 Xp21.1 X 32454694C> G null D H 1191 1191 missense 0.789 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123942 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32454685G> A null Q * 1194 1194 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000176666 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770682257 Xp21.1 X 32454678G> A null A V 1196 1196 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs777955789 Xp21.1 X 32454675A> G null V A 1197 1197 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs1800262 Xp21.1 X 32454676C> A null V F 1197 1197 missense 0.813 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs1800262 Xp21.1 X 32454676C> G null V L 1197 1197 missense 0.015 benign 0.42 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs756522820 Xp21.1 X 32454673C> T null E K 1198 1198 missense 0.409 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs756522820 Xp21.1 X 32454673C> G null E Q 1198 1198 missense 0.92 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1265370991 Xp21.1 X 32454662C> A null K N 1201 1201 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1185291494 Xp21.1 X 32454664T> G null K Q 1201 1201 missense 0.966 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569562950 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448635C> T null A T 1203 1203 missense 0.753 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001247780 A0A075B6G3 DMD Dystrophin dbSNP rs1603633687 Xp21.1 X 32448631T> A null K I 1204 1204 missense 0 A0A075B6G3 DMD Dystrophin TOPMed rs1286522885 Xp21.1 X 32448632T> G null K Q 1204 1204 missense 0.98 probably damaging 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1448639542 Xp21.1 X 32448623C> T null A T 1207 1207 missense 0.087 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769122414 Xp21.1 X 32448615T> G null Q H 1209 1209 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs781592675 Xp21.1 X 32448616T> C null Q R 1209 1209 missense 0.653 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs267606771 [ClinVar]: Becker muscular dystrophy pubmed:9410897 Xp21.1 X 32448611C> A null E * 1211 1211 stop gained 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000012031 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP,gnomAD rs142171890 cosmic curated [ClinVar]: Duchenne muscular dystrophy, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:328 Xp21.1 X 32448607G> A null A V 1212 1212 missense 0.0 benign 1.0 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000921008 A0A075B6G3 DMD Dystrophin dbSNP rs398123943 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448605de l null K * 1213 1214 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990678 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs886043133 Xp21.1 X 32448605T> C null K E 1213 1213 missense 0.279 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123943 Xp21.1 X 32448605du p null V null 1214 1214 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl rs866934800 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 32448602C> A null V L 1214 1214 missense 0.044 benign 0.03 deleterious 1 A0A075B6G3 DMD Dystrophin gnomAD rs1232279975 Xp21.1 X 32448599T> G null K Q 1215 1215 missense 0.036 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569562944 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448595A> G null L P 1216 1216 missense 0.394 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000688574 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042839 Xp21.1 X 32448593G> C null L V 1217 1217 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs745701287 Xp21.1 X 32448586T> G null E A 1219 1219 5.3E-4 missense 0.087 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs994401063 Xp21.1 X 32448571A> G null V A 1224 1224 missense 0.014 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs757482211 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448568A> G null I T 1225 1225 missense 0.06 benign 0.1 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000698167 A0A075B6G3 DMD Dystrophin TOPMed rs1041907200 Xp21.1 X 32448569T> C null I V 1225 1225 missense 0.001 benign 0.64 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs752521629 Xp21.1 X 32448565G> C null A G 1226 1226 missense 0.015 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569562941 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448563G> A null Q * 1227 1227 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000693959 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569562941 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448563G> C null Q E 1227 1227 missense 0.0 benign 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000684893 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759503214 Xp21.1 X 32448557G> T null P T 1229 1229 missense 0.084 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1402943270 Xp21.1 X 32448553G> A null P L 1230 1230 missense 0.236 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs886042862 Xp21.1 X 32448554G> A null P S 1230 1230 missense 0.028 benign 0.61 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs897492515 Xp21.1 X 32448551C> T null V I 1231 1231 missense 0.038 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1339088514 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448545G> A null Q * 1233 1233 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990677 A0A075B6G3 DMD Dystrophin gnomAD rs1339088514 Xp21.1 X 32448545G> C null Q E 1233 1233 missense 0.209 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762528226 Xp21.1 X 32448540C> G null E D 1234 1234 missense 0.024 benign 0.53 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557362198 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448534de l null K null 1238 1238 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630490 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs150333718 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448529T> C null K R 1238 1238 missense 0.003 benign 0.08 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630496 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs776943155 Xp21.1 X 32448525T> G null E D 1239 1239 missense 0.069 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557362186 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448524G> T null L I 1240 1240 missense 0.232 benign 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630552 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs769030725 Xp21.1 X 32448523A> C null L R 1240 1240 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1244385455 Xp21.1 X 32448517G> C null T S 1242 1242 missense 0.023 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800269 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448508G> A null T I 1245 1245 0.008477 missense 0.161 benign 0.06 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000345231 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800269 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448508G> A null T I 1245 1245 0.008477 missense 0.161 benign 0.06 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000475998 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569562936 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448500G> A null Q * 1248 1248 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000697112 A0A075B6G3 DMD Dystrophin dbSNP rs398123945 Xp21.1 X 32448496de l null W null 1249 1249 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs886043635 Xp21.1 X 32448495C> T null W * 1249 1249 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs886043635 Xp21.1 X 32448495C> A null W C 1249 1249 missense 0.694 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs745950179 Xp21.1 X 32448494G> C null L V 1250 1250 missense 0.872 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569562933 Xp21.1 X 32448468G> C null C W 1258 1258 missense 0.905 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123946 Xp21.1 X 32448457_32448463delinsC C null T null 1260 1260 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043957 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32448464T> C null T A 1260 1260 missense 0.366 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001207763 A0A075B6G3 DMD Dystrophin TOPMed rs1214358266 Xp21.1 X 32448463G> A null T I 1260 1260 missense 0.571 possibly damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1289897334 Xp21.1 X 32448461A> C null L V 1261 1261 missense 0.566 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603633545 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441306C> T null W * 1265 1265 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990676 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs200213555 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441307C> G null W S 1265 1265 7.95E-4 missense 0.987 probably damaging 0.08 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001169829 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs200213555 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441307C> G null W S 1265 1265 7.95E-4 missense 0.987 probably damaging 0.08 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000547718 A0A075B6G3 DMD Dystrophin TOPMed rs1406886023 Xp21.1 X 32441304G> A null A V 1266 1266 missense 0.038 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569562573 cosmic curated [Cosmic]: breast cosmic_study:414 Xp21.1 X 32441297C> T null W * 1268 1268 missense 1 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs775892814 Xp21.1 X 32441295T> A null H L 1269 1269 missense 0.015 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs775892814 Xp21.1 X 32441295T> G null H P 1269 1269 missense 0.3 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs775892814 Xp21.1 X 32441295T> C null H R 1269 1269 missense 0.173 benign 0.86 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs151150099 cosmic curated [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp21.1 X 32441296G> A null H Y 1269 1269 missense 0.015 benign 0.14 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630519 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772614528 Xp21.1 X 32441291C> G null E D 1270 1270 missense 0.971 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs760733415 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441285C> G null L F 1272 1272 missense 0.996 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000306607 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs760733415 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441285C> G null L F 1272 1272 missense 0.996 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001080626 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs760733415 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32441285C> A null L F 1272 1272 missense 0.996 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000458499 A0A075B6G3 DMD Dystrophin dbSNP rs1557359217 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441284de l null S null 1273 1273 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630566 A0A075B6G3 DMD Dystrophin gnomAD rs1276636837 Xp21.1 X 32441281A> C null Y D 1274 1274 missense 0.749 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770934386 Xp21.1 X 32441277A> C null L W 1275 1275 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1368655785 Xp21.1 X 32441275C> T null E K 1276 1276 missense 0.014 benign 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1800270 Xp21.1 X 32441269C> G null A P 1278 1278 missense 0.601 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749460363 Xp21.1 X 32441264G> C null N K 1279 1279 missense 0.444 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727463 Xp21.1 X 32441263T> A null K * 1280 1280 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603633541 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441258C> T null W * 1281 1281 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990675 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043387 Xp21.1 X 32441260A> G null W R 1281 1281 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs778145106 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441253T> C null N S 1283 1283 missense 0.022 benign 0.11 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001082063 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557359192 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441251C> T null E K 1284 1284 missense 0.545 possibly damaging 0.6 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000809248 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569562570 Xp21.1 X 32441245C> A null E * 1286 1286 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs756469272 Xp21.1 X 32441244T> A null E V 1286 1286 missense 0.864 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs940217014 Xp21.1 X 32441242A> G null F L 1287 1287 missense 0.0 benign 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs910045310 Xp21.1 X 32441237T> G null K N 1288 1288 missense 0.891 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1325177475 Xp21.1 X 32441229G> A null T I 1291 1291 missense 0.001 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603633538 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441226G> A null T I 1292 1292 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000824332 A0A075B6G3 DMD Dystrophin Ensembl rs1037276871 Xp21.1 X 32441223T> C null E G 1293 1293 missense 0.054 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs984177051 Xp21.1 X 32441216A> C null I M 1295 1295 missense 0.005 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569562566 Xp21.1 X 32441218T> C null I V 1295 1295 missense 0.0 benign 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557359155 Xp21.1 X 32441217de l null P null 1296 1296 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs941573844 Xp21.1 X 32441212C> A null G C 1297 1297 missense 0.646 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs750349613 [ClinVar]: Primary familial hypertrophic cardiomyopathy Xp21.1 X 32441209C> T null G R 1298 1298 missense 0.014 benign 0.09 tolerated 0 Primary familial hypertrophic cardiomyopathy (HCM) MIM:PS192600 pubmed:14607462,pubmed:20301725,pubmed:21810866,pubmed:25173338,ClinVar:RCV000208075 A0A075B6G3 DMD Dystrophin dbSNP rs1603633536 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441208C> A null G V 1298 1298 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000806805 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs764748376 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32441189C> G null E D 1304 1304 missense 0.077 benign 0.1 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000803198 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756766474 Xp21.1 X 32441187A> G null V A 1305 1305 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1251778900 Xp21.1 X 32441185G> T null L I 1306 1306 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569562561 Xp21.1 X 32441182C> T null D N 1307 1307 missense 0.005 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569562466 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438389G> T null S * 1308 1308 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001232666 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502642 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438387G> A null L F 1309 1309 missense 0.972 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000459161 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs377156960 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438376C> G null L F 1312 1312 missense 0.578 possibly damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000341663 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs377156960 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438376C> G null L F 1312 1312 missense 0.578 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001088143 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs794729003 Xp21.1 X 32438375T> C null M V 1313 1313 missense 0.087 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs5030730 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:11039581,cosmic_study:376,cosmic_study:414 Xp21.1 X 32438372G> A null R * 1314 1314 missense 1 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000012034 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs5030730 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:11039581,cosmic_study:376,cosmic_study:414 Xp21.1 X 32438372G> A null R * 1314 1314 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201024 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs752767880 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32438371C> T null R Q 1314 1314 2.65E-4 missense 0.015 benign 0.28 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000463574 A0A075B6G3 DMD Dystrophin gnomAD rs1304826050 Xp21.1 X 32438368T> A null H L 1315 1315 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs752311497 Xp21.1 X 32438369G> A null H Y 1315 1315 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1389240734 Xp21.1 X 32438365G> A null S L 1316 1316 missense 0.438 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs759820971 cosmic curated [ClinVar]: Duchenne muscular dystrophy, [Cosmic]: lung pubmed:22975805,cosmic_study:453 Xp21.1 X 32438359T> C null D G 1318 1318 missense 0.915 probably damaging 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001242084 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs752026173 Xp21.1 X 32438356T> A null N I 1319 1319 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs752026173 Xp21.1 X 32438356T> C null N S 1319 1319 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs766977775 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438353G> C null P R 1320 1320 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001087643 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569562455 Xp21.1 X 32438346C> A null Q H 1322 1322 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs770016783 Xp21.1 X 32438345T> A null I F 1323 1323 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs762037883 Xp21.1 X 32438344A> C null I S 1323 1323 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs770016783 Xp21.1 X 32438345T> C null I V 1323 1323 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs143184877 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy cosmic_study:375,cosmic_study:419 Xp21.1 X 32438342G> A null R C 1324 1324 0.00106 missense 0.997 probably damaging 0.0 deleterious 1 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000853041 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs143184877 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy cosmic_study:375,cosmic_study:419 Xp21.1 X 32438342G> A null R C 1324 1324 0.00106 missense 0.997 probably damaging 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990674 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP,gnomAD rs768990357 cosmic curated [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 32438341C> T null R H 1324 1324 missense 0.993 probably damaging 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000536434 A0A075B6G3 DMD Dystrophin dbSNP rs1603633486 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438332de l null A null 1327 1327 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990673 A0A075B6G3 DMD Dystrophin gnomAD rs1159052632 Xp21.1 X 32438333C> T null A T 1327 1327 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs745640786 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438330G> C null Q E 1328 1328 missense 0.664 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001211852 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778819392 Xp21.1 X 32438329T> G null Q P 1328 1328 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs770827878 Xp21.1 X 32438326G> A null T I 1329 1329 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs770827878 Xp21.1 X 32438326G> T null T N 1329 1329 missense 0.991 probably damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1485535759 Xp21.1 X 32438320G> A null T I 1331 1331 missense 0.111 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs894368954 Xp21.1 X 32438316A> C null D E 1332 1332 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs146880270 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438312C> A null G * 1334 1334 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000196412 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs755630090 Xp21.1 X 32438311C> T null G E 1334 1334 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146880270 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32438312C> T null G R 1334 1334 missense 0.401 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1441001089 Xp21.1 X 32438303C> A null D Y 1337 1337 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs780700782 Xp21.1 X 32438292G> C null I M 1340 1340 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1280237734 Xp21.1 X 32438293A> G null I T 1340 1340 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs187617705 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438282G> A null L F 1344 1344 2.65E-4 missense 0.993 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001169828 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs187617705 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438282G> A null L F 1344 1344 2.65E-4 missense 0.993 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000869085 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs766890056 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438275G> A null T I 1346 1346 missense 0.009 benign 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000551196 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs766890056 Xp21.1 X 32438275G> T null T K 1346 1346 missense 0.001 benign 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1314755365 Xp21.1 X 32438276T> G null T P 1346 1346 missense 0.104 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1466636716 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438272A> T null F Y 1347 1347 missense 0.994 probably damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630573 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs763514033 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32438266G> C null S C 1349 1349 missense 0.003 benign 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001223511 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs763514033 Xp21.1 X 32438266G> A null S F 1349 1349 missense 0.575 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1278483491 Xp21.1 X 32438264G> A null R C 1350 1350 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs750981128 Xp21.1 X 32438263C> T null R H 1350 1350 missense 0.169 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs750981128 Xp21.1 X 32438263C> A null R L 1350 1350 missense 0.41 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1454477626 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32438259C> G null W C 1351 1351 missense 0.028 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs765341659 Xp21.1 X 32438256C> G null R S 1352 1352 missense 0.062 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs907237595 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22622578,cosmic_study:388 Xp21.1 X 32438255C> T null E K 1353 1353 missense 0.674 possibly damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin dbSNP rs1557357445 Xp21.1 X 32438252de l null L null 1354 1354 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed rs1422809613 Xp21.1 X 32438248T> C null H R 1355 1355 missense 0.138 benign 0.41 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761797182 Xp21.1 X 32438246C> T null E K 1356 1356 missense 0.013 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123947 Xp21.1 X 32438241C> G null E D 1357 1357 missense 0.457 possibly damaging 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs753639717 [ClinVar]: Familial dilated cardiomyopathy Xp21.1 X 32411903C> T null R K 1361 1361 missense 0.017 benign 0.26 tolerated 0 Familial dilated cardiomyopathy (FDCM) Familial dilated cardiomyopathy is a genetic form of heart disease. MIM:PS115200 ClinVar:RCV000845423 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs753639717 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32411903C> A null R M 1361 1361 missense 0.914 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000915266 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs753639717 Xp21.1 X 32411903C> G null R T 1361 1361 missense 0.653 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs956187688 Xp21.1 X 32411896C> G null K N 1363 1363 missense 0.358 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603632896 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32411893C> G null L F 1364 1364 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000814357 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs763829484 Xp21.1 X 32411894A> G null L S 1364 1364 missense 0.007 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1252905257 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32411895A> C null L V 1364 1364 missense 0.003 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148781346 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32411892G> A null L F 1365 1365 5.3E-4 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000476221 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs752699296 Xp21.1 X 32411891A> G null L P 1365 1365 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557340477 Xp21.1 X 32411883T> C null S G 1368 1368 missense 0.669 possibly damaging 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs978977375 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32411880T> C null I V 1369 1369 missense 0.729 possibly damaging 0.23 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630499 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs767073708 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32411875C> A null Q H 1370 1370 missense 0.614 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs759108067 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32411870G> A null A V 1372 1372 missense 0.804 possibly damaging 0.24 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000872969 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123948 Xp21.1 X 32411868G> A null Q * 1373 1373 stop gained 0 A0A075B6G3 DMD Dystrophin NCI-TCGA,gnomAD rs754116215 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 Xp21.1 X 32411867T> C null Q R 1373 1373 missense 0.062 benign 0.79 tolerated 1 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557340452 Xp21.1 X 32411865C> A null E * 1374 1374 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1368774604 cosmic curated [Cosmic]: liver cosmic_study:323 Xp21.1 X 32411863C> A null E D 1374 1374 missense 0.983 probably damaging 0.01 deleterious 1 A0A075B6G3 DMD Dystrophin gnomAD rs1368774604 cosmic curated [Cosmic]: liver cosmic_study:323 Xp21.1 X 32411863C> G null E D 1374 1374 missense 0.983 probably damaging 0.01 deleterious 1 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs1800263 Xp21.1 X 32411854T> A null K N 1377 1377 missense 0.012 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs748595647 Xp21.1 X 32411852G> C null S C 1378 1378 missense 0.694 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs748595647 Xp21.1 X 32411852G> T null S Y 1378 1378 missense 0.382 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777127317 Xp21.1 X 32411847G> A null H Y 1380 1380 missense 0.138 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs756489424 Xp21.1 X 32411841T> A null I F 1382 1382 2.65E-4 missense 0.93 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1297303010 Xp21.1 X 32411837T> C null Q R 1383 1383 missense 0.471 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569561687 Xp21.1 X 32411834de l null E null 1384 1384 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747091078 Xp21.1 X 32411832A> T null S T 1385 1385 missense 0.69 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28715870 Xp21.1 X 32411823A> G null F L 1388 1388 0.02808 missense 0.0 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28715870 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32411823A> C null F V 1388 1388 0.02808 missense 0.0 benign 0.3 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000375597 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28715870 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32411823A> C null F V 1388 1388 0.02808 missense 0.0 benign 0.3 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001084439 A0A075B6G3 DMD Dystrophin TOPMed rs1285348915 Xp21.1 X 32411820T> C null I V 1389 1389 missense 0.059 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs886043687 NCI-TCGA Cosmic [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 Xp21.1 X 32411815G> C null D E 1390 1390 missense 0.987 probably damaging 0.01 deleterious 1 A0A075B6G3 DMD Dystrophin dbSNP rs1603632892 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32411813T> C null K R 1391 1391 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990671 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043496 Xp21.1 X 32411811G> A null Q * 1392 1392 stop gained 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs372863584 cosmic curated [Cosmic]: lung cosmic_study:418 Xp21.1 X 32411809C> A null Q H 1392 1392 missense 0.132 benign 0.27 tolerated 1 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs876657779 Xp21.1 X 32411810T> C null Q R 1392 1392 missense 0.23 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs755981539 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32411801G> A null A V 1395 1395 missense 0.127 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1285175554 Xp21.1 X 32411798T> C null Y C 1396 1396 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs752611347 Xp21.1 X 32411794A> C null I M 1397 1397 missense 0.823 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs974271827 Xp21.1 X 32411795A> G null I T 1397 1397 missense 0.736 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs369380616 Xp21.1 X 32411789T> C null D G 1399 1399 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1347208359 Xp21.1 X 32411787T> C null K E 1400 1400 missense 0.097 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751046843 Xp21.1 X 32411783A> G null V A 1401 1401 missense 0.539 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs139318945 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32411784C> T null V M 1401 1401 missense 0.452 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000687555 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs766668051 Xp21.1 X 32411779G> T null D E 1402 1402 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,TOPMed,dbSNP rs377043643 [ClinVar]: Inborn genetic diseases Xp21.1 X 32411780T> C null D G 1402 1402 missense 0.994 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000210661 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762615933 Xp21.1 X 32411778C> T null A T 1403 1403 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1267618995 Xp21.1 X 32411777G> A null A V 1403 1403 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs128626247 [ClinVar]: Duchenne muscular dystrophy pubmed:7951253 Xp21.1 X 32411772G> A null Q * 1405 1405 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012007 A0A075B6G3 DMD Dystrophin TOPMed rs128626247 Xp21.1 X 32411772G> C null Q E 1405 1405 missense 0.867 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs867924075 Xp21.1 X 32411767C> A null M I 1406 1406 missense 0.012 benign 0.7 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772752496 Xp21.1 X 32411765G> A null P L 1407 1407 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057524291 NCI-TCGA Cosmic [Cosmic]: urinary_tract, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:413,cosmic_study:582 Xp21.1 X 32411763G> A null Q * 1408 1408 missense 1 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1010666282 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32411754G> A null Q * 1411 1411 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630498 A0A075B6G3 DMD Dystrophin TOPMed rs1010666282 Xp21.1 X 32411754G> T null Q K 1411 1411 missense 0.909 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1409739233 Xp21.1 X 32411753T> C null Q R 1411 1411 missense 0.674 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC rs761491922 Xp21.1 X 32390179T> G null K N 1412 1412 missense 0.618 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1462311598 Xp21.1 X 32390180T> C null K R 1412 1412 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224997 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32390175G> A null Q * 1414 1414 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201081 A0A075B6G3 DMD Dystrophin Ensembl rs562517517 Xp21.1 X 32390174T> C null Q R 1414 1414 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569560771 Xp21.1 X 32390171G> A null S F 1415 1415 missense 0.473 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1186095572 Xp21.1 X 32390169C> G null D H 1416 1416 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761183688 Xp21.1 X 32390156T> C null H R 1420 1420 missense 0.037 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1475038240 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32390157G> A null H Y 1420 1420 missense 0.761 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775862964 Xp21.1 X 32390151T> G null I L 1422 1422 missense 0.021 benign 0.65 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1378075633 Xp21.1 X 32390147C> G null S T 1423 1423 missense 0.006 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs371585389 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32390132T> C null K R 1428 1428 missense 0.517 possibly damaging 0.78 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001246744 A0A075B6G3 DMD Dystrophin dbSNP rs1557322838 Xp21.1 X 32390125_32390126de l null H null 1430 1430 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603632327 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32390126T> C null H R 1430 1430 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000813771 A0A075B6G3 DMD Dystrophin dbSNP rs1557322834 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32390120de l null Q null 1432 1432 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000792583 A0A075B6G3 DMD Dystrophin dbSNP rs1603632326 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32390121G> A null Q * 1432 1432 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990670 A0A075B6G3 DMD Dystrophin 1000Genomes,dbSNP,gnomAD rs747262903 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32390119C> G null Q H 1432 1432 2.65E-4 missense 0.005 benign 0.1 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630524 A0A075B6G3 DMD Dystrophin 1000Genomes,dbSNP,gnomAD rs747262903 Xp21.1 X 32390119C> A null Q H 1432 1432 2.65E-4 missense 0.005 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs988185124 Xp21.1 X 32390117C> T null G E 1433 1433 missense 0.053 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs371601285 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32390118C> G null G R 1433 1433 missense 0.726 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000463213 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs771250421 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32390115T> C null K E 1434 1434 missense 0.015 benign 0.2 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630492 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs749556197 Xp21.1 X 32390113C> G null K N 1434 1434 missense 0.433 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs768351017 Xp21.1 X 32390111T> G null E A 1435 1435 missense 0.003 benign 0.43 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs768351017 Xp21.1 X 32390111T> A null E V 1435 1435 missense 0.015 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603632324 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32390107_32390110de l null A null 1436 1436 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990669 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042798 Xp21.1 X 32390108G> T null A D 1436 1436 missense 0.224 benign 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886043766 Xp21.1 X 32390106C> A null A S 1437 1437 missense 0.003 benign 0.74 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs746898682 Xp21.1 X 32390105G> A null A V 1437 1437 missense 0.127 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044402 Xp21.1 X 32390103G> A null Q * 1438 1438 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123950 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32390101_32390102de l null R null 1439 1439 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990668 A0A075B6G3 DMD Dystrophin dbSNP rs398123950 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32390102de l null R null 1439 1439 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990667 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727550 Xp21.1 X 32390100T> A null R * 1439 1439 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs779852446 Xp21.1 X 32390097C> T null V I 1440 1440 missense 0.734 possibly damaging 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603632322 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32390088G> A null Q * 1443 1443 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990666 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs749903671 Xp21.1 X 32390087T> C null Q R 1443 1443 missense 0.237 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778423964 Xp21.1 X 32390084A> G null I T 1444 1444 missense 0.237 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1397313254 Xp21.1 X 32390080A> T null D E 1445 1445 missense 0.019 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557322713 Xp21.1 X 32390078A> G null V A 1446 1446 missense 0.007 benign 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756852420 Xp21.1 X 32390079C> T null V I 1446 1446 missense 0.003 benign 0.29 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753500560 Xp21.1 X 32390072T> A null Q L 1448 1448 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1178271418 Xp21.1 X 32389670T> A null K I 1450 1450 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs772220893 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389674du p null L null 1451 1451 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990665 A0A075B6G3 DMD Dystrophin dbSNP rs1603632316 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389667A> C null L * 1451 1451 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990664 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753410642 Xp21.1 X 32389660A> T null D E 1453 1453 missense 0.005 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs777274879 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389646A> T null F Y 1458 1458 missense 0.389 benign 0.35 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001088088 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs398123953 cosmic curated [ClinVar]: Dystrophinopathies, [Cosmic]: skin, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:21984974,pubmed:22622578,pubmed:22842228,cosmic_study:357,cosmic_study:388,cosmic_study:511 Xp21.1 X 32389644G> A null R * 1459 1459 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201013 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs398123953 cosmic curated [ClinVar]: Dystrophinopathies, [Cosmic]: skin, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:21984974,pubmed:22622578,pubmed:22842228,cosmic_study:357,cosmic_study:388,cosmic_study:511 Xp21.1 X 32389644G> A null R * 1459 1459 missense 1 Dystrophinopathies The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). pubmed:20301298,ClinVar:RCV001174851 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs755835144 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32389643C> T null R Q 1459 1459 missense 0.08 benign 0.94 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs767959949 Xp21.1 X 32389630T> G null K N 1463 1463 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC rs755496708 Xp21.1 X 32389625G> T null A D 1465 1465 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1157660398 Xp21.1 X 32389626C> G null A P 1465 1465 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044272 Xp21.1 X 32389623T> G null N H 1466 1466 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs910214749 Xp21.1 X 32389622T> C null N S 1466 1466 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1462655612 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32389615C> A null E D 1468 1468 missense 0.06 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs398123954 Xp21.1 X 32389614G> A null Q * 1469 1469 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs398123954 Xp21.1 X 32389614G> C null Q E 1469 1469 missense 0.452 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1057872 Xp21.1 X 32389613T> A null Q L 1469 1469 missense 0.848 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs752129019 cosmic curated [Cosmic]: breast, [ClinVar]: Duchenne muscular dystrophy cosmic_study:324 Xp21.1 X 32389610C> T null R H 1470 1470 missense 0.996 probably damaging 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000797096 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs752129019 Xp21.1 X 32389610C> A null R L 1470 1470 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626248 [ClinVar]: Duchenne muscular dystrophy pubmed:7951253 Xp21.1 X 32389605G> A null Q * 1472 1472 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012008 A0A075B6G3 DMD Dystrophin TOPMed rs1369946912 Xp21.1 X 32389601T> G null E A 1473 1473 missense 0.81 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs398123956 Xp21.1 X 32389598C> G null S T 1474 1474 missense 0.333 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603632314 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389596T> A null K * 1475 1475 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990663 A0A075B6G3 DMD Dystrophin gnomAD rs1301925090 Xp21.1 X 32389595T> G null K T 1475 1475 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs745757372 [ClinVar]: Familial dilated cardiomyopathy Xp21.1 X 32389591C> A null M I 1476 1476 missense 0 Familial dilated cardiomyopathy (FDCM) Familial dilated cardiomyopathy is a genetic form of heart disease. MIM:PS115200 ClinVar:RCV000845510 A0A075B6G3 DMD Dystrophin Ensembl rs745757372 Xp21.1 X 32389591C> T null M I 1476 1476 missense 0.062 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs371646182 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389592A> G null M T 1476 1476 missense 0.003 benign 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000862504 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs376143404 Xp21.1 X 32389590T> A null I F 1477 1477 missense 0.642 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603632312 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389586A> C null L * 1478 1478 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000793396 A0A075B6G3 DMD Dystrophin TOPMed rs1281217232 Xp21.1 X 32389583T> G null D A 1479 1479 missense 0.961 probably damaging 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044457 Xp21.1 X 32389584C> T null D N 1479 1479 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603632311 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389581C> A null E * 1480 1480 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990662 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs765355046 [ClinVar]: Primary dilated cardiomyopathy Xp21.1 X 32389570C> T null M I 1483 1483 missense 0.023 benign 0.08 tolerated 0 Primary dilated cardiomyopathy (DCM) Familial dilated cardiomyopathy is a genetic form of heart disease. pubmed:16839424,pubmed:20301486,pubmed:21810866,ClinVar:RCV000417293 A0A075B6G3 DMD Dystrophin gnomAD rs1275580489 Xp21.1 X 32389569G> T null H N 1484 1484 missense 0.062 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1222163883 Xp21.1 X 32389562G> T null P H 1486 1486 missense 0.043 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs762125605 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 Xp21.1 X 32389563G> A null P S 1486 1486 missense 0.79 possibly damaging 0.53 tolerated 1 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs373162382 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389552T> G null E D 1489 1489 missense 0.012 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000528126 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs143008889 Xp21.1 X 32389554C> T null E K 1489 1489 missense 0.562 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123957 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389548_32389549de l null K null 1491 1491 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001045796 A0A075B6G3 DMD Dystrophin TOPMed rs1215768839 Xp21.1 X 32389548T> C null K E 1491 1491 missense 0.702 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603632309 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389529_32389545de l null V null 1493 1493 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990661 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs369118010 Xp21.1 X 32389539C> T null E K 1494 1494 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs748769566 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389536G> A null Q * 1495 1495 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000387009 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs748769566 Xp21.1 X 32389536G> C null Q E 1495 1495 missense 0.138 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs748769566 Xp21.1 X 32389536G> T null Q K 1495 1495 missense 0.138 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569560739 [ClinVar]: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389533C> A null E * 1496 1496 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000767858 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569560739 [ClinVar]: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389533C> A null E * 1496 1496 stop gained 0 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD ClinVar:RCV000722086 A0A075B6G3 DMD Dystrophin Ensembl rs961970689 Xp21.1 X 32389530C> T null V I 1497 1497 missense 0.58 possibly damaging 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP rs755686224 Xp21.1 X 32389524G> A null Q * 1499 1499 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557322201 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389518G> A null Q * 1501 1501 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630518 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs745462674 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389514A> C null L R 1502 1502 missense 0.998 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000691402 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1469008607 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32389509G> A null H Y 1504 1504 missense 0.491 possibly damaging 0.08 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630560 A0A075B6G3 DMD Dystrophin dbSNP rs794727567 Xp21.1 X 32386462de l null L null 1508 1508 frameshift 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468638 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32386455T> C null K R 1510 1510 0.005563 missense 0.988 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000372007 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72468638 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32386455T> C null K R 1510 1510 0.005563 missense 0.988 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001084663 A0A075B6G3 DMD Dystrophin dbSNP rs398123961 Xp21.1 X 32386450_32386451de l null L null 1512 1512 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1064793479 Xp21.1 X 32386446_32386449de l null S null 1513 1513 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569560628 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32386447T> G null S R 1513 1513 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000698913 A0A075B6G3 DMD Dystrophin dbSNP rs1603632248 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32386444_32386448de l null V * 1515 1516 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990660 A0A075B6G3 DMD Dystrophin dbSNP rs398123962 Xp21.1 X 32386438_32386442TCACT[1 ] null V * 1515 1516 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569560626 Xp21.1 X 32386438T> A null K * 1516 1516 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs886043348 Xp21.1 X 32386434_32386440de l null S null 1517 1517 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1447055069 Xp21.1 X 32386434G> A null S F 1517 1517 missense 0.726 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs138984555 Xp21.1 X 32386421C> T null M I 1521 1521 missense 0.062 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753920442 Xp21.1 X 32386422A> G null M T 1521 1521 missense 0.001 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs757350813 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32386423T> C null M V 1521 1521 missense 0.026 benign 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000533577 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs760923591 Xp21.1 X 32386420C> A null V L 1522 1522 missense 0.84 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603632246 Xp21.1 X 32386416_32386417du p null K * 1524 1524 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs751320057 Xp21.1 X 32386411T> A null T S 1525 1525 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs766187969 Xp21.1 X 32386405G> A null R C 1527 1527 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762743383 Xp21.1 X 32386396C> T null V I 1530 1530 missense 0.652 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557320194 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32386393G> A null Q * 1531 1531 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990659 A0A075B6G3 DMD Dystrophin gnomAD rs1283799059 Xp21.1 X 32386390T> C null K E 1532 1532 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1431604157 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 Xp21.1 X 32386380G> A null T M 1535 1535 missense 0.987 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224998 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32386378C> A null E * 1536 1536 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201102 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1040362862 Xp21.1 X 32386371G> T null P H 1538 1538 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1040362862 Xp21.1 X 32386371G> A null P L 1538 1538 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin NCI-TCGA,gnomAD rs778957669 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32386372G> A null P S 1538 1538 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1387802855 Xp21.1 X 32386369T> C null K E 1539 1539 missense 0.359 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557320151 NCI-TCGA Cosmic [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:23856246,cosmic_study:504 Xp21.1 X 32386366C> A null E * 1540 1540 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000820684 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769688302 Xp21.1 X 32386364T> A null E D 1540 1540 missense 0.007 benign 0.44 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs777614188 Xp21.1 X 32386363G> T null L I 1541 1541 2.65E-4 missense 0.925 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs776330208 Xp21.1 X 32386362A> G null L P 1541 1541 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs746681404 Xp21.1 X 32386356T> G null E A 1543 1543 missense 0.702 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs746681404 Xp21.1 X 32386356T> C null E G 1543 1543 missense 0.065 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs780508132 Xp21.1 X 32386352T> A null R S 1544 1544 missense 0.087 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1191676213 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32386345C> A null A S 1547 1547 missense 0.652 possibly damaging 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1341974048 Xp21.1 X 32386344G> A null A V 1547 1547 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1254145716 Xp21.1 X 32386331A> C null H Q 1551 1551 missense 0.0 benign 0.35 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1216000876 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32386324C> A null E * 1554 1554 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990658 A0A075B6G3 DMD Dystrophin gnomAD rs1216000876 Xp21.1 X 32386324C> T null E K 1554 1554 missense 0.713 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1216000876 Xp21.1 X 32386324C> G null E Q 1554 1554 missense 0.848 possibly damaging 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs779458962 Xp21.1 X 32386312T> G null K Q 1558 1558 missense 0.013 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603632119 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32380668_32380671TTCT[1 ] null R null 1562 1562 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990656 A0A075B6G3 DMD Dystrophin dbSNP rs771425504 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32380671T> A null R * 1562 1562 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990657 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771425504 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32380671T> C null R G 1562 1562 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001080748 A0A075B6G3 DMD Dystrophin gnomAD rs1274085489 Xp21.1 X 32380668T> G null K Q 1563 1563 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs766735219 Xp21.1 X 32380667T> C null K R 1563 1563 2.65E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603632117 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32380662G> A null Q * 1565 1565 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990655 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756192848 Xp21.1 X 32380655T> G null E A 1567 1567 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1428580503 Xp21.1 X 32380656C> G null E Q 1567 1567 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs867008920 Xp21.1 X 32380653T> C null K E 1568 1568 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs994148923 Xp21.1 X 32380648G> C null C W 1569 1569 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1176094995 Xp21.1 X 32380649C> T null C Y 1569 1569 missense 0.782 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC rs760909622 Xp21.1 X 32380644T> C null K E 1571 1571 2.65E-4 missense 0.661 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs781465089 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 Xp21.1 X 32380635G> A null R C 1574 1574 missense 0.248 benign 0.05 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs755206033 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32380634C> T null R H 1574 1574 missense 0.304 benign 0.04 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167968 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs755206033 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32380634C> T null R H 1574 1574 missense 0.304 benign 0.04 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001087423 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs757160024 Xp21.1 X 32380627C> G null M I 1576 1576 missense 0.094 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764973246 Xp21.1 X 32380628A> G null M T 1576 1576 missense 0.253 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs750201815 Xp21.1 X 32380629T> C null M V 1576 1576 missense 0.097 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224999 cosmic curated [ClinVar]: Dystrophinopathies, [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 Xp21.1 X 32380626G> A null R * 1577 1577 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201158 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224999 cosmic curated [ClinVar]: Dystrophinopathies, [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 Xp21.1 X 32380626G> A null R * 1577 1577 missense 1 Dystrophinopathies The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). pubmed:20301298,ClinVar:RCV001193218 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs753830915 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32380625C> T null R Q 1577 1577 missense 0.428 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs398123964 Xp21.1 X 32380620C> A null E * 1579 1579 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs398123964 Xp21.1 X 32380620C> T null E K 1579 1579 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764192677 Xp21.1 X 32380616A> G null M T 1580 1580 missense 0.01 benign 0.35 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs727503831 Xp21.1 X 32380614T> C null N D 1581 1581 missense 0.343 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760247764 Xp21.1 X 32380612A> T null N K 1581 1581 missense 0.425 benign 0.35 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1375388363 Xp21.1 X 32380613T> C null N S 1581 1581 missense 0.07 benign 0.37 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs147231219 Xp21.1 X 32380610A> G null V A 1582 1582 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs398123965 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32380611C> T null V I 1582 1582 5.3E-4 missense 0.009 benign 0.21 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000333923 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs398123965 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32380611C> T null V I 1582 1582 5.3E-4 missense 0.009 benign 0.21 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630633 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759138154 Xp21.1 X 32380605T> C null T A 1584 1584 missense 0.661 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774725589 Xp21.1 X 32380601T> G null E A 1585 1585 missense 0.864 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569560477 Xp21.1 X 32380597C> T null W * 1586 1586 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1456353224 Xp21.1 X 32380598C> A null W L 1586 1586 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs763585635 Xp21.1 X 32380599A> G null W R 1586 1586 2.65E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773706422 Xp21.1 X 32380592G> T null A E 1588 1588 missense 0.082 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs749732729 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32380593C> A null A S 1588 1588 missense 0.007 benign 0.43 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630512 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773706422 Xp21.1 X 32380592G> A null A V 1588 1588 missense 0.182 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770347305 Xp21.1 X 32380590C> T null A T 1589 1589 missense 0.007 benign 0.47 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1419816532 Xp21.1 X 32380587T> C null T A 1590 1590 missense 0.771 possibly damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs907514288 Xp21.1 X 32380586G> A null T I 1590 1590 missense 0.666 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs398123966 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32380580A> G null M T 1592 1592 missense 0.0 benign 0.25 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000553672 A0A075B6G3 DMD Dystrophin ExAC rs748205396 Xp21.1 X 32380581T> C null M V 1592 1592 missense 0.0 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1359144760 Xp21.1 X 32380575A> T null L M 1594 1594 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs869025383 [ClinVar]: Primary familial hypertrophic cardiomyopathy Xp21.1 X 32380571G> T null T K 1595 1595 missense 0.17 benign 0.1 tolerated 0 Primary familial hypertrophic cardiomyopathy (HCM) MIM:PS192600 pubmed:14607462,pubmed:20301725,pubmed:21810866,pubmed:25173338,ClinVar:RCV000208324 A0A075B6G3 DMD Dystrophin dbSNP rs1569560475 Xp21.1 X 32380569_32380570de l null K null 1596 1596 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed rs36072930 Xp21.1 X 32380565C> A null R I 1597 1597 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs36072930 Xp21.1 X 32380565C> T null R K 1597 1597 missense 0.147 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs755188386 Xp21.1 X 32380563A> G null S P 1598 1598 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs753565464 Xp21.1 X 32380557C> T null V I 1600 1600 missense 0.511 possibly damaging 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs753565464 Xp21.1 X 32380557C> G null V L 1600 1600 missense 0.049 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1194595135 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp21.1 X 32380551C> T null G R 1602 1602 missense 0.439 benign 0.02 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747218608 Xp21.1 X 32380544G> A null P L 1604 1604 missense 0.261 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs747218608 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32380544G> C null P R 1604 1604 missense 0.983 probably damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000696001 A0A075B6G3 DMD Dystrophin TOPMed rs1251808696 Xp21.1 X 32380545G> A null P S 1604 1604 missense 0.623 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778702600 Xp21.1 X 32380542T> A null S C 1605 1605 missense 0.011 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs757114307 Xp21.1 X 32380525T> A null E D 1610 1610 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs920434997 Xp21.1 X 32380526T> C null E G 1610 1610 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1166786345 Xp21.1 X 32380527C> T null E K 1610 1610 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,TOPMed rs371634786 Xp21.1 X 32380524C> A null V F 1611 1611 missense 0.339 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs990573133 Xp21.1 X 32380521C> A null A S 1612 1612 missense 0.359 benign 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1415168893 Xp21.1 X 32380520G> A null A V 1612 1612 missense 0.913 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557315928 [ClinVar]: Primary dilated cardiomyopathy Xp21.1 X 32380517C> T null W * 1613 1613 stop gained 0 Primary dilated cardiomyopathy (DCM) Familial dilated cardiomyopathy is a genetic form of heart disease. pubmed:16839424,pubmed:20301486,pubmed:21810866,ClinVar:RCV000626857 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123969 Xp21.1 X 32380512T> A null K * 1615 1615 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed rs1422911313 Xp21.1 X 32380511T> G null K T 1615 1615 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs370167370 Xp21.1 X 32365198G> C null A G 1616 1616 missense 0.011 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs370167370 Xp21.1 X 32365198G> A null A V 1616 1616 missense 0.02 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1085307535 Xp21.1 X 32365193G> C null Q E 1618 1618 missense 0.155 benign 0.37 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603631756 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365185_32365186CT[1 ] null E null 1620 1620 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990654 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502645 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365187C> A null E * 1620 1620 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000463648 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs377412251 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365183A> G null I T 1621 1621 2.65E-4 missense 0.0 benign 0.37 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001080511 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs373480671 Xp21.1 X 32365177T> C null K R 1623 1623 missense 0.283 benign 0.75 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs762250680 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365175G> A null Q * 1624 1624 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000229831 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762250680 Xp21.1 X 32365175G> C null Q E 1624 1624 missense 0.026 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1397058114 Xp21.1 X 32365174T> C null Q R 1624 1624 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1407330001 Xp21.1 X 32365170C> A null K N 1625 1625 missense 0.786 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs72468634 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365168A> T null V E 1626 1626 missense 0.088 benign 0.43 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000802988 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs776998846 Xp21.1 X 32365169C> A null V L 1626 1626 missense 0.02 benign 0.39 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs776998846 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365169C> T null V M 1626 1626 missense 0.322 benign 0.12 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000531945 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043184 Xp21.1 X 32365164G> T null H Q 1627 1627 missense 0.003 benign 0.83 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1034157242 Xp21.1 X 32365165T> C null H R 1627 1627 missense 0.098 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1172674386 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365163G> T null L M 1628 1628 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000798746 A0A075B6G3 DMD Dystrophin dbSNP rs1603631755 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365155A> T null S R 1630 1630 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000817825 A0A075B6G3 DMD Dystrophin TOPMed rs1334574502 Xp21.1 X 32365151T> A null T S 1632 1632 missense 0.018 benign 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044407 Xp21.1 X 32365146C> A null E D 1633 1633 missense 0.017 benign 0.44 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs370800101 Xp21.1 X 32365148C> G null E Q 1633 1633 missense 0.72 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs143538389 Xp21.1 X 32365137C> A null E D 1636 1636 missense 0.003 benign 0.33 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1187805835 Xp21.1 X 32365138T> A null E V 1636 1636 missense 0.06 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1285159164 Xp21.1 X 32365135G> T null A D 1637 1637 missense 0.339 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1207828482 Xp21.1 X 32365131C> A null L F 1638 1638 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs863225000 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365130de l null T null 1640 1640 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201034 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557305645 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365126_32365127delinsC A null T * 1640 1640 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000557103 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1001288162 Xp21.1 X 32365126G> C null T R 1640 1640 missense 0.207 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs376720373 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365121A> T null L M 1642 1642 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000797896 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs373723470 Xp21.1 X 32365117C> G null G A 1643 1643 missense 0.12 benign 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs780982818 Xp21.1 X 32365118C> A null G C 1643 1643 missense 0.729 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs780982818 Xp21.1 X 32365118C> G null G R 1643 1643 missense 0.323 benign 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1060502632 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365110_32365113de l null K null 1645 1645 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000461657 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs779572260 Xp21.1 X 32365111T> A null K M 1645 1645 missense 0.193 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1373815664 Xp21.1 X 32365108T> C null E G 1646 1646 missense 0.036 benign 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs148868095 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32365105G> A null T M 1647 1647 missense 0.007 benign 0.05 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000921456 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs138472027 Xp21.1 X 32365103A> C null L V 1648 1648 missense 0.108 benign 0.61 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1300066468 Xp21.1 X 32365100C> A null V L 1649 1649 missense 0.062 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1300066468 Xp21.1 X 32365100C> G null V L 1649 1649 missense 0.062 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1300066468 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32365100C> T null V M 1649 1649 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1427938321 Xp21.1 X 32365095T> A null E D 1650 1650 missense 0.045 benign 0.5 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764476153 Xp21.1 X 32365092A> C null D E 1651 1651 missense 0.279 benign 0.61 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1369953471 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365094C> T null D N 1651 1651 missense 0.962 probably damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000535123 A0A075B6G3 DMD Dystrophin TOPMed rs1239016104 Xp21.1 X 32365078A> T null L Q 1656 1656 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1299245467 Xp21.1 X 32365075T> A null N I 1657 1657 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123972 Xp21.1 X 32365120_32365121insTTCAGAAGACTGAGTTTATCTTCCACCAACGTCTCCTTCTTGCCC A null S G 1658 1658 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs794728999 Xp21.1 X 32365072C> T null S N 1658 1658 missense 0.036 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603631752 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365065C> T null W * 1660 1660 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990653 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs373475585 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365064T> C null I V 1661 1661 missense 0.0 benign 0.29 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000862157 A0A075B6G3 DMD Dystrophin Ensembl rs745465665 Xp21.1 X 32365055T> C null T A 1664 1664 missense 0.734 possibly damaging 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs398123973 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365049G> A null R * 1666 1666 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000545335 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1047334468 Xp21.1 X 32365048C> A null R L 1666 1666 missense 0.22 benign 0.43 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1047334468 Xp21.1 X 32365048C> T null R Q 1666 1666 missense 0.966 probably damaging 0.35 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed rs374838013 Xp21.1 X 32365046C> T null A T 1667 1667 missense 0.009 benign 0.82 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759762111 Xp21.1 X 32365045G> A null A V 1667 1667 missense 0.011 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs774454385 Xp21.1 X 32365038C> G null E D 1669 1669 2.65E-4 missense 0.043 benign 0.93 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs727503828 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365035C> A null W C 1670 1670 missense 0.997 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001088504 A0A075B6G3 DMD Dystrophin Ensembl rs973159625 Xp21.1 X 32365037A> C null W G 1670 1670 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16990264 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365029A> T null N K 1672 1672 0.02305 missense 0.476 possibly damaging 0.05 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000330350 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16990264 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32365029A> T null N K 1672 1672 0.02305 missense 0.476 possibly damaging 0.05 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000757159 A0A075B6G3 DMD Dystrophin TOPMed rs1409927492 Xp21.1 X 32365031T> A null N Y 1672 1672 missense 0.926 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123975 Xp21.1 X 32365023C> G null L F 1674 1674 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557305418 Xp21.1 X 32365021A> T null L * 1675 1675 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl rs868267519 Xp21.1 X 32364710C> T null E K 1676 1676 missense 0.281 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs748979320 Xp21.1 X 32364707A> G null Y H 1677 1677 missense 0.043 benign 0.97 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042154 Xp21.1 X 32364704G> A null Q * 1678 1678 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed rs1045187121 Xp21.1 X 32364693C> A null M I 1681 1681 missense 0.237 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1045187121 Xp21.1 X 32364693C> T null M I 1681 1681 missense 0.237 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1057515873 Xp21.1 X 32364689T> C null T A 1683 1683 missense 0.0 benign 0.72 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1057515873 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364689T> G null T P 1683 1683 missense 0.104 benign 0.2 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000273131 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1057515873 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364689T> G null T P 1683 1683 missense 0.104 benign 0.2 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000534069 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs146420425 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364688G> C null T S 1683 1683 missense 0.0 benign 0.68 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000865621 A0A075B6G3 DMD Dystrophin TOPMed rs942881703 Xp21.1 X 32364685A> G null F S 1684 1684 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603631744 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364680G> A null Q * 1686 1686 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990652 A0A075B6G3 DMD Dystrophin gnomAD rs1207276080 Xp21.1 X 32364678C> A null Q H 1686 1686 missense 0.789 possibly damaging 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs753173718 Xp21.1 X 32364673A> G null V A 1688 1688 missense 0.492 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1306027302 Xp21.1 X 32364671C> A null D Y 1689 1689 missense 0.269 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs761764494 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364668_32364670de l null H null 1690 1690 inframe deletion 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000548571 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs367674503 Xp21.1 X 32364662T> C null T A 1692 1692 missense 0.281 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs755587394 Xp21.1 X 32364661G> C null T R 1692 1692 missense 0.029 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1295394996 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364654C> T null W * 1694 1694 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000845039 A0A075B6G3 DMD Dystrophin TOPMed rs1295394996 Xp21.1 X 32364654C> A null W C 1694 1694 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1332766566 Xp21.1 X 32364653T> G null I L 1695 1695 missense 0.003 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1213208529 Xp21.1 X 32364651G> C null I M 1695 1695 missense 0.036 benign 0.32 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1228213218 Xp21.1 X 32364652A> T null I N 1695 1695 missense 0.785 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs946133697 Xp21.1 X 32364650T> A null I F 1696 1696 missense 0.023 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042347 cosmic curated [Cosmic]: NS pubmed:24265154,cosmic_study:526 Xp21.1 X 32364647G> A null Q * 1697 1697 missense 1 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs766504075 cosmic curated [ClinVar]: Duchenne muscular dystrophy, [Cosmic]: ovary pubmed:21720365,cosmic_study:331 Xp21.1 X 32364645C> A null Q H 1697 1697 missense 0.022 benign 0.07 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000816544 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123978 Xp21.1 X 32364638_32364639delinsAATGAATTCATTCA T null D E 1699 1699 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs763028318 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364639G> T null D E 1699 1699 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001063145 A0A075B6G3 DMD Dystrophin dbSNP rs1060502647 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364635GT[2 ] null L null 1701 1701 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000473975 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs765445866 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364626C> A null E * 1704 1704 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000466883 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs765445866 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32364626C> T null E K 1704 1704 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1406793430 Xp21.1 X 32364623A> G null S P 1705 1705 missense 0.207 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1162172791 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 32364618C> A null E D 1706 1706 missense 0.465 possibly damaging 0.34 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760439152 Xp21.1 X 32364619T> C null E G 1706 1706 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123979 Xp21.1 X 32364612_32364615de l null K null 1708 1708 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs775302077 Xp21.1 X 32364613T> C null K R 1708 1708 missense 0.011 benign 0.38 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs865938529 Xp21.1 X 32364607G> A null P L 1710 1710 missense 0.025 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863225001 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364605G> A null Q * 1711 1711 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201095 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs398123980 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364602G> A null Q * 1712 1712 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001253506 A0A075B6G3 DMD Dystrophin gnomAD rs398123980 Xp21.1 X 32364602G> C null Q E 1712 1712 missense 0.014 benign 0.56 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1415297734 Xp21.1 X 32364601T> A null Q L 1712 1712 missense 0.012 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773674283 Xp21.1 X 32364597T> G null K N 1713 1713 missense 0.913 probably damaging 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557304860 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364601de l null E null 1714 1714 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000591154 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042747 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364596C> A null E * 1714 1714 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000391947 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs151109270 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364592T> C null D G 1715 1715 missense 0.535 possibly damaging 0.04 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000820032 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs748814615 Xp21.1 X 32364590C> T null V M 1716 1716 missense 0.031 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs769383291 Xp21.1 X 32364587G> A null L F 1717 1717 missense 0.036 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs769383291 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32364587G> T null L I 1717 1717 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000812223 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1365170508 Xp21.1 X 32362958G> A null R C 1719 1719 missense 0.049 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1273883368 Xp21.1 X 32362957C> T null R H 1719 1719 missense 0.083 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772640289 Xp21.1 X 32362954A> G null L S 1720 1720 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs72468630 Xp21.1 X 32362950C> A null K N 1721 1721 0.00106 missense 0.879 possibly damaging 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs72468630 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362950C> G null K N 1721 1721 0.00106 missense 0.879 possibly damaging 0.25 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167366 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs72468630 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362950C> G null K N 1721 1721 0.00106 missense 0.879 possibly damaging 0.25 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000537267 A0A075B6G3 DMD Dystrophin dbSNP rs1603631705 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362946C> A null E * 1723 1723 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990651 A0A075B6G3 DMD Dystrophin TOPMed rs1455378558 Xp21.1 X 32362940T> A null N Y 1725 1725 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs372917491 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362936T> C null D G 1726 1726 2.65E-4 missense 0.987 probably damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000547470 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200887855 Xp21.1 X 32362932T> C null I M 1727 1727 2.65E-4 missense 0.007 benign 0.61 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1423274422 Xp21.1 X 32362933A> G null I T 1727 1727 missense 0.023 benign 0.52 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs34102501 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32362931G> A null R C 1728 1728 0.003179 missense 0.742 possibly damaging 0.02 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167365 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs34102501 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32362931G> A null R C 1728 1728 0.003179 missense 0.742 possibly damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001085478 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs780599147 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:376,cosmic_study:452 Xp21.1 X 32362930C> T null R H 1728 1728 missense 0.005 benign 0.27 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs780599147 Xp21.1 X 32362930C> G null R P 1728 1728 missense 0.626 possibly damaging 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1160354036 Xp21.1 X 32362928G> A null P S 1729 1729 missense 0.036 benign 0.46 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1473732566 Xp21.1 X 32362925T> C null K E 1730 1730 missense 0.131 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1395872786 Xp21.1 X 32362923C> A null K N 1730 1730 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs758866794 Xp21.1 X 32362921A> T null V E 1731 1731 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1174588427 Xp21.1 X 32362919C> A null D Y 1732 1732 missense 0.785 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1464839283 Xp21.1 X 32362912G> A null T I 1734 1734 missense 0.022 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs147904018 NCI-TCGA Cosmic [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 32362910G> A null R C 1735 1735 missense 0.969 probably damaging 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000469017 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs757412063 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362909C> T null R H 1735 1735 missense 0.112 benign 0.09 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167364 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs757412063 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362909C> T null R H 1735 1735 missense 0.112 benign 0.09 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000869211 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs147904018 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362910G> T null R S 1735 1735 missense 0.872 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000819606 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs144717862 Xp21.1 X 32362905G> T null D E 1736 1736 missense 0.159 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs200740165 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362897G> T null A E 1739 1739 missense 0.003 benign 0.23 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001244498 A0A075B6G3 DMD Dystrophin Ensembl rs765181302 Xp21.1 X 32362893G> C null N K 1740 1740 missense 0.001 benign 0.91 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1223965275 Xp21.1 X 32362889T> A null M L 1742 1742 missense 0.379 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs909969309 Xp21.1 X 32362888A> G null M T 1742 1742 missense 0.875 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs376234802 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362883T> C null N D 1744 1744 missense 0.669 possibly damaging 0.25 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000527743 A0A075B6G3 DMD Dystrophin TOPMed rs1326450715 Xp21.1 X 32362880G> A null R C 1745 1745 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1801187 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362879C> T null R H 1745 1745 0.4652 missense 0.736 possibly damaging 0.07 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000365312 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1801187 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362879C> T null R H 1745 1745 0.4652 missense 0.736 possibly damaging 0.07 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000578043 A0A075B6G3 DMD Dystrophin gnomAD rs1305126237 Xp21.1 X 32362877C> T null G S 1746 1746 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs373428963 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362858A> C null L * 1752 1752 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990650 A0A075B6G3 DMD Dystrophin ESP,ExAC,dbSNP,gnomAD rs373428963 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362858A> G null L S 1752 1752 missense 0.498 possibly damaging 0.15 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165784 A0A075B6G3 DMD Dystrophin ESP,ExAC,dbSNP,gnomAD rs373428963 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362858A> G null L S 1752 1752 missense 0.498 possibly damaging 0.15 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000820517 A0A075B6G3 DMD Dystrophin gnomAD rs1359089046 Xp21.1 X 32362853C> T null E K 1754 1754 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1057515872 Xp21.1 X 32362850G> C null P A 1755 1755 missense 0.792 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1459135347 Xp21.1 X 32362849G> T null P H 1755 1755 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1057515872 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362850G> A null P S 1755 1755 missense 0.474 possibly damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000308415 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1057515872 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362850G> A null P S 1755 1755 missense 0.474 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000686263 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1057515872 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 Xp21.1 X 32362850G> T null P T 1755 1755 missense 0.444 benign 0.03 deleterious 1 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557303544 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362847G> A null Q * 1756 1756 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630559 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs201516290 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362843A> G null I T 1757 1757 missense 0.253 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001244304 A0A075B6G3 DMD Dystrophin dbSNP rs886041653 Xp21.1 X 32362836_32362837CT[1 ] null E null 1759 1759 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs761491343 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362836C> A null E D 1759 1759 missense 0.149 benign 0.05 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000703428 A0A075B6G3 DMD Dystrophin gnomAD rs1482260149 Xp21.1 X 32362828T> A null H L 1762 1762 missense 0.015 benign 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123981 [ClinVar]: Muscular dystrophy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362826G> A null R * 1763 1763 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000177912 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123981 [ClinVar]: Muscular dystrophy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362826G> A null R * 1763 1763 stop gained 0 Muscular dystrophy ClinVar:RCV001198765 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs398123982 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32362825C> A null R L 1763 1763 missense 0.649 possibly damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000794522 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747367046 Xp21.1 X 32362822A> G null F S 1764 1764 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1158527362 Xp21.1 X 32362819G> A null A V 1765 1765 missense 0.358 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1221300408 Xp21.1 X 32362816G> T null A D 1766 1766 missense 0.852 possibly damaging 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772581752 Xp21.1 X 32362806G> C null H Q 1769 1769 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs771548119 Xp21.1 X 32362808G> A null H Y 1769 1769 missense 0.095 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886039535 Xp21.1 X 32362799T> A null K * 1772 1772 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs746374413 Xp21.1 X 32362798T> A null K M 1772 1772 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs956323929 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 Xp21.1 X 32362795G> T null T N 1773 1773 missense 0.454 possibly damaging 0.02 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs757321766 Xp21.1 X 32362788C> A null K N 1775 1775 missense 0.925 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1322190307 Xp21.1 X 32362790T> G null K Q 1775 1775 missense 0.163 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs778893720 Xp21.1 X 32362789T> C null K R 1775 1775 missense 0.841 possibly damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557303381 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32362788_32362789delinsA C null K S 1775 1775 missense 0.847 possibly damaging 0.01 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000583809 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557303381 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32362788_32362789delinsA C null K S 1775 1775 missense 0.847 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000582079 A0A075B6G3 DMD Dystrophin gnomAD rs1433501099 Xp21.1 X 32348527G> C null A G 1776 1776 missense 0.548 possibly damaging 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1192262859 Xp21.1 X 32348528C> T null A T 1776 1776 missense 0.467 possibly damaging 0.58 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557294341 Xp21.1 X 32348521de l null P null 1779 1779 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed rs966393024 Xp21.1 X 32348515A> G null L S 1780 1780 missense 0.005 benign 0.32 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1320680803 Xp21.1 X 32348516A> C null L V 1780 1780 missense 0.062 benign 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044455 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32348510C> A null E * 1782 1782 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000817852 A0A075B6G3 DMD Dystrophin gnomAD rs1189023098 Xp21.1 X 32348507A> T null L M 1783 1783 missense 0.891 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1251067215 Xp21.1 X 32348506A> G null L S 1783 1783 missense 0.891 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs777864641 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32348504C> A null E * 1784 1784 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201039 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777864641 Xp21.1 X 32348504C> T null E K 1784 1784 missense 0.395 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777864641 Xp21.1 X 32348504C> G null E Q 1784 1784 missense 0.761 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123990 Xp21.1 X 32348501G> A null Q * 1785 1785 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603631368 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32348498de l null F null 1786 1786 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990648 A0A075B6G3 DMD Dystrophin dbSNP rs1557294296 Xp21.1 X 32348495du p null N null 1787 1787 frameshift 0 A0A075B6G3 DMD Dystrophin 1000Genomes,dbSNP rs199774535 Xp21.1 X 32348491G> C null S * 1788 1788 2.65E-4 stop gained 0 A0A075B6G3 DMD Dystrophin 1000Genomes rs199774535 Xp21.1 X 32348491G> A null S L 1788 1788 2.65E-4 missense 0.187 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs748336386 Xp21.1 X 32348484T> C null I M 1790 1790 missense 0.124 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756314351 Xp21.1 X 32348485A> G null I T 1790 1790 missense 0.457 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886043883 Xp21.1 X 32348486T> C null I V 1790 1790 missense 0.087 benign 0.41 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569559204 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32348483G> A null Q * 1791 1791 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990647 A0A075B6G3 DMD Dystrophin dbSNP rs1603631367 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32348482de l null K null 1792 1792 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990646 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs79541196 Xp21.1 X 32348471C> G null E Q 1795 1795 2.65E-4 missense 0.617 possibly damaging 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs758124706 Xp21.1 X 32348468G> A null P S 1796 1796 missense 0.059 benign 0.86 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603631365 Xp21.1 X 32348468du p null L null 1797 1797 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569559198 Xp21.1 X 32348443_32348464de l null L null 1797 1797 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP rs750303298 Xp21.1 X 32348464A> G null L P 1797 1797 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs778973278 Xp21.1 X 32348461T> A null E V 1798 1798 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1425652193 Xp21.1 X 32348458G> A null A V 1799 1799 missense 0.535 possibly damaging 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs757290084 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32348454T> G null E D 1800 1800 missense 0.775 possibly damaging 0.04 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000526348 A0A075B6G3 DMD Dystrophin gnomAD rs1386485242 Xp21.1 X 32348450G> C null Q E 1802 1802 missense 0.155 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs893536407 Xp21.1 X 32348449T> C null Q R 1802 1802 missense 0.84 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557294228 Xp21.1 X 32348447G> A null Q * 1803 1803 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753348797 Xp21.1 X 32348444C> T null G R 1804 1804 missense 0.142 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1377930874 Xp21.1 X 32348441C> T null V M 1805 1805 missense 0.847 possibly damaging 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1368648645 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32348435G> T null L M 1807 1807 missense 0.508 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1368648645 Xp21.1 X 32348435G> C null L V 1807 1807 missense 0.2 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760308587 Xp21.1 X 32348428T> A null E V 1809 1809 missense 0.731 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs767254304 Xp21.1 X 32348416T> A null N I 1813 1813 missense 0.637 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs767254304 Xp21.1 X 32348416T> C null N S 1813 1813 missense 0.02 benign 0.39 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759794196 Xp21.1 X 32348411C> A null D Y 1815 1815 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs754474379 Xp21.1 X 32348407A> T null M K 1816 1816 2.65E-4 missense 0.205 benign 0.71 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs754474379 Xp21.1 X 32348407A> G null M T 1816 1816 2.65E-4 missense 0.02 benign 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1360206259 Xp21.1 X 32346072G> T null D E 1819 1819 missense 0.106 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569559110 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32346072_32346076du p null N null 1820 1820 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000701701 A0A075B6G3 DMD Dystrophin Ensembl rs950984648 Xp21.1 X 32346069A> T null N K 1820 1820 missense 0.059 benign 0.35 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs1800271 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32346070T> C null N S 1820 1820 missense 0.205 benign 0.21 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000458789 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863225002 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32346068C> A null E * 1821 1821 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201122 A0A075B6G3 DMD Dystrophin gnomAD rs1254662476 Xp21.1 X 32346067T> A null E V 1821 1821 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs766746479 Xp21.1 X 32346065C> A null G C 1822 1822 missense 0.879 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs766746479 Xp21.1 X 32346065C> G null G R 1822 1822 missense 0.562 possibly damaging 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs766746479 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32346065C> T null G S 1822 1822 missense 0.059 benign 0.19 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001247125 A0A075B6G3 DMD Dystrophin gnomAD rs1465595838 Xp21.1 X 32346061G> C null T S 1823 1823 missense 0.138 benign 0.58 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1270252499 Xp21.1 X 32346058A> C null V G 1824 1824 missense 0.848 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs770391290 Xp21.1 X 32346052T> G null E A 1826 1826 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140913030 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32346053C> G null E Q 1826 1826 0.002649 missense 0.674 possibly damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001087654 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs754765424 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Long QT syndrome, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32346044G> C null Q E 1829 1829 0.00106 missense 0.011 benign 0.07 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165782 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs754765424 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Long QT syndrome, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32346044G> C null Q E 1829 1829 0.00106 missense 0.011 benign 0.07 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001085412 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs754765424 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Long QT syndrome, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32346044G> C null Q E 1829 1829 0.00106 missense 0.011 benign 0.07 tolerated 0 Long QT syndrome (LQTS) MIM:PS192500 pubmed:23994779,ClinVar:RCV000853039 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs369055628 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32346040C> A null R I 1830 1830 missense 0.936 probably damaging 0.01 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000415685 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs369055628 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32346040C> A null R I 1830 1830 missense 0.936 probably damaging 0.01 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000415628 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs369055628 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32346040C> A null R I 1830 1830 missense 0.936 probably damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000415647 A0A075B6G3 DMD Dystrophin dbSNP rs1569559106 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32346042_32346043de l null G null 1831 1831 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000687043 A0A075B6G3 DMD Dystrophin gnomAD rs1455380131 Xp21.1 X 32346031T> C null N S 1833 1833 missense 0.007 benign 0.4 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1328578166 Xp21.1 X 32346029A> C null L V 1834 1834 missense 0.967 probably damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1225638867 Xp21.1 X 32346026G> T null Q K 1835 1835 missense 0.205 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs747245739 Xp21.1 X 32346025T> A null Q L 1835 1835 missense 0.009 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs747245739 Xp21.1 X 32346025T> G null Q P 1835 1835 missense 0.685 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs770845480 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32346023G> A null Q * 1836 1836 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000229638 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs770845480 Xp21.1 X 32346023G> C null Q E 1836 1836 missense 0.073 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777546204 Xp21.1 X 32346019C> T null R K 1837 1837 missense 0.009 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777546204 Xp21.1 X 32346019C> G null R T 1837 1837 missense 0.205 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756113955 Xp21.1 X 32346016A> C null I S 1838 1838 missense 0.205 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1250351808 Xp21.1 X 32346014T> C null T A 1839 1839 missense 0.014 benign 0.33 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs905571950 Xp21.1 X 32346011C> G null D H 1840 1840 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs376011686 Xp21.1 X 32346004C> G null R T 1842 1842 missense 0.06 benign 0.44 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs1064325 NCI-TCGA Cosmic [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:375 Xp21.1 X 32345999G> A null R * 1844 1844 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000178001 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs751221923 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32345998C> T null R Q 1844 1844 missense 0.958 probably damaging 0.11 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000475860 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1354256883 Xp21.1 X 32345996C> A null E * 1845 1845 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1369140143 Xp21.1 X 32345995T> C null E G 1845 1845 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1354256883 Xp21.1 X 32345996C> T null E K 1845 1845 missense 0.664 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs749463515 Xp21.1 X 32345992T> G null E A 1846 1846 2.65E-4 missense 0.888 possibly damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs371728045 Xp21.1 X 32345989A> G null I T 1847 1847 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs369623931 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32345985C> A null K N 1848 1848 missense 0.535 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000686754 A0A075B6G3 DMD Dystrophin gnomAD rs1299604960 Xp21.1 X 32345983A> T null I K 1849 1849 missense 0.009 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557292678 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32345978_32345982de l null K null 1850 1850 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000814386 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs141261536 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32345981T> C null K E 1850 1850 missense 0.32 benign 0.07 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630489 A0A075B6G3 DMD Dystrophin TOPMed rs1389835859 Xp21.1 X 32345979T> G null K N 1850 1850 missense 0.948 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128625228 [ClinVar]: Duchenne muscular dystrophy pubmed:1549596 Xp21.1 X 32345978G> A null Q * 1851 1851 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011961 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs398123991 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:414 Xp21.1 X 32345975G> A null Q * 1852 1852 missense 1 A0A075B6G3 DMD Dystrophin Ensembl rs949836768 Xp21.1 X 32345972G> C null L V 1853 1853 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569559097 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32345966G> A null Q * 1855 1855 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990645 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs759375976 Xp21.1 X 32345964C> A null Q H 1855 1855 missense 0.132 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC rs776513314 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 Xp21.1 X 32345963T> C null T A 1856 1856 missense 0.007 benign 0.07 tolerated 1 A0A075B6G3 DMD Dystrophin ESP,TOPMed rs148246460 Xp21.1 X 32345962G> A null T I 1856 1856 missense 0.498 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,TOPMed rs148246460 Xp21.1 X 32345962G> T null T K 1856 1856 missense 0.057 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,TOPMed rs148246460 Xp21.1 X 32345962G> C null T R 1856 1856 missense 0.339 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764236140 Xp21.1 X 32345958T> G null K N 1857 1857 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1406604069 Xp21.1 X 32345959T> C null K R 1857 1857 missense 0.283 benign 0.43 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1433418358 Xp21.1 X 32345951C> A null A S 1860 1860 missense 0.127 benign 0.29 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557291242 Xp21.1 X 32343279de l null R null 1865 1865 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed rs1326167742 Xp21.1 X 32343280T> C null R G 1865 1865 missense 0.917 probably damaging 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs144718274 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343274G> C null Q E 1867 1867 missense 0.3 benign 0.53 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000706382 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1057519179 Xp21.1 X 32343272T> G null Q H 1867 1867 missense 0.77 possibly damaging 0.58 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1253896743 Xp21.1 X 32343273T> A null Q L 1867 1867 missense 0.003 benign 0.86 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs863225003 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343270_32343273de l null R null 1868 1868 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201033 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557291229 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343271T> A null R * 1868 1868 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630547 A0A075B6G3 DMD Dystrophin gnomAD rs1437145731 Xp21.1 X 32343267C> G null R T 1869 1869 missense 0.272 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557291170 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343233_32343260de l null K null 1871 1871 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000554463 A0A075B6G3 DMD Dystrophin gnomAD rs1279143530 Xp21.1 X 32343262T> C null K E 1871 1871 missense 0.087 benign 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759824486 Xp21.1 X 32343260C> G null K N 1871 1871 missense 0.023 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs200246327 Xp21.1 X 32343258G> T null A D 1872 1872 2.65E-4 missense 0.236 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs200246327 Xp21.1 X 32343258G> A null A V 1872 1872 2.65E-4 missense 0.237 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769637913 Xp21.1 X 32343256G> C null L V 1873 1873 missense 0.108 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142441725 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343253C> T null E K 1874 1874 0.00106 missense 0.359 benign 0.21 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000304972 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142441725 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343253C> T null E K 1874 1874 0.00106 missense 0.359 benign 0.21 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000533044 A0A075B6G3 DMD Dystrophin TOPMed rs796291308 Xp21.1 X 32343243T> A null H L 1877 1877 missense 0.433 benign 0.7 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs796291308 Xp21.1 X 32343243T> G null H P 1877 1877 missense 0.001 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603631244 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343237C> T null W * 1879 1879 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990644 A0A075B6G3 DMD Dystrophin Ensembl rs865856945 Xp21.1 X 32343236C> A null W C 1879 1879 missense 0.973 probably damaging 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs398123993 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32343233A> T null Y * 1880 1880 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl rs992137173 Xp21.1 X 32343235A> G null Y H 1880 1880 missense 0.964 probably damaging 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863225004 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343232G> A null Q * 1881 1881 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201117 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502623 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343226T> A null K * 1883 1883 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000457870 A0A075B6G3 DMD Dystrophin dbSNP rs1057518692 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343222de l null R null 1884 1884 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000415013 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557291149 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343223T> C null R G 1884 1884 missense 0.007 benign 0.22 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630535 A0A075B6G3 DMD Dystrophin gnomAD rs1295935628 Xp21.1 X 32343220G> C null Q E 1885 1885 missense 0.155 benign 0.59 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044451 Xp21.1 X 32343219T> A null Q L 1885 1885 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1239878805 Xp21.1 X 32343213T> C null D G 1887 1887 missense 0.043 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1360220925 Xp21.1 X 32343214C> T null D N 1887 1887 missense 0.267 benign 0.41 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123995 Xp21.1 X 32343202T> A null K * 1891 1891 stop gained 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs769324102 Xp21.1 X 32343201T> A null K I 1891 1891 2.65E-4 missense 0.138 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1468524058 Xp21.1 X 32343199A> G null C R 1892 1892 missense 0.708 possibly damaging 0.35 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs137898199 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343198C> T null C Y 1892 1892 missense 0.283 benign 0.38 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000694678 A0A075B6G3 DMD Dystrophin dbSNP rs1569558964 Xp21.1 X 32343194de l null D null 1894 1894 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs779574344 Xp21.1 X 32343191A> T null D E 1894 1894 missense 0.916 probably damaging 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs779574344 Xp21.1 X 32343191A> C null D E 1894 1894 missense 0.916 probably damaging 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1288134740 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343193C> G null D H 1894 1894 missense 0.993 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000700369 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs376202643 Xp21.1 X 32343189T> G null D A 1895 1895 missense 0.182 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs376202643 Xp21.1 X 32343189T> A null D V 1895 1895 missense 0.498 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603631241 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343184du p null E null 1897 1897 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990642 A0A075B6G3 DMD Dystrophin dbSNP rs1603631240 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343184C> A null E * 1897 1897 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990643 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727662 Xp21.1 X 32343180T> G null K T 1898 1898 missense 0.037 benign 0.32 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727661 Xp21.1 X 32343183de l null K null 1899 1899 frameshift 0 A0A075B6G3 DMD Dystrophin NCI-TCGA rs794727661 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32343176de l null K N 1899 1899 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed rs958950796 Xp21.1 X 32343177T> G null K T 1899 1899 missense 0.535 possibly damaging 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057518866 [ClinVar]: Myopathy Xp21.1 X 32343174A> C null L * 1900 1900 stop gained 0 Myopathy ClinVar:RCV000415086 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778493714 Xp21.1 X 32343175A> C null L V 1900 1900 missense 0.329 benign 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201302282 cosmic curated [ClinVar]: Primary dilated cardiomyopathy, [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 32343172C> T null A T 1901 1901 2.65E-4 missense 0.182 benign 0.56 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000459519 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201302282 cosmic curated [ClinVar]: Primary dilated cardiomyopathy, [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 32343172C> T null A T 1901 1901 2.65E-4 missense 0.182 benign 0.56 tolerated 1 Primary dilated cardiomyopathy (DCM) Familial dilated cardiomyopathy is a genetic form of heart disease. pubmed:16839424,pubmed:20301486,pubmed:21810866,ClinVar:RCV000157167 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756718738 Xp21.1 X 32343168C> A null S I 1902 1902 missense 0.018 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756718738 Xp21.1 X 32343168C> T null S N 1902 1902 missense 0.012 benign 0.55 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs752774864 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343167G> T null S R 1902 1902 missense 0.361 benign 0.35 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001231485 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs370969622 Xp21.1 X 32343166G> C null L V 1903 1903 missense 0.949 probably damaging 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557291003 Xp21.1 X 32343160C> A null E * 1905 1905 stop gained 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145266970 [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343150T> A null D V 1908 1908 5.3E-4 missense 0.994 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001084570 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145266970 [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32343150T> A null D V 1908 1908 5.3E-4 missense 0.994 probably damaging 0.0 deleterious 0 Primary familial hypertrophic cardiomyopathy (HCM) MIM:PS192600 pubmed:14607462,pubmed:20301725,pubmed:21810866,pubmed:25173338,ClinVar:RCV000853118 A0A075B6G3 DMD Dystrophin dbSNP rs1569558953 Xp21.1 X 32343144_32343148de l null R null 1910 1910 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1160873705 Xp21.1 X 32343144C> T null R K 1910 1910 missense 0.007 benign 0.45 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs376375532 Xp21.1 X 32343138A> G null I T 1912 1912 missense 0.015 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1185519858 Xp21.1 X 32342280T> A null E D 1914 1914 missense 0.966 probably damaging 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs985546923 [ClinVar]: Dilated cardiomyopathy 3B Xp21.1 X 32342281T> C null E G 1914 1914 missense 0.45 possibly damaging 0.08 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000338939 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753584916 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 Xp21.1 X 32342275T> C null D G 1916 1916 missense 0.644 possibly damaging 0.6 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760528813 Xp21.1 X 32342272C> T null R Q 1917 1917 missense 0.011 benign 0.75 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs763893272 Xp21.1 X 32342273G> A null R W 1917 1917 missense 0.913 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs199560875 Xp21.1 X 32342270C> T null E K 1918 1918 missense 0.756 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057520764 Xp21.1 X 32342264G> A null Q * 1920 1920 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl rs932730691 Xp21.1 X 32342260T> C null K R 1921 1921 missense 0.036 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569558911 Xp21.1 X 32342250C> A null E D 1924 1924 missense 0.028 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123997 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32342249C> A null E * 1925 1925 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201201 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1800272 Xp21.1 X 32342247C> A null E D 1925 1925 missense 0.101 benign 0.45 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs771948526 Xp21.1 X 32342239G> A null A V 1928 1928 missense 0.376 benign 0.36 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs794729004 Xp21.1 X 32342237C> G null V L 1929 1929 missense 0.086 benign 0.44 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1295144399 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32342234G> A null R C 1930 1930 missense 0.54 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs759051688 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32342233C> T null R H 1930 1930 missense 0.001 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557290355 Xp21.1 X 32342222C> A null E * 1934 1934 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs878854620 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32342221T> A null E V 1934 1934 missense 0.177 benign 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000233621 A0A075B6G3 DMD Dystrophin gnomAD rs1369962498 Xp21.1 X 32342218C> T null G D 1935 1935 missense 0.003 benign 0.62 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1369962498 Xp21.1 X 32342218C> A null G V 1935 1935 missense 0.038 benign 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123998 Xp21.1 X 32342215A> T null L * 1936 1936 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1301428819 Xp21.1 X 32342207C> A null D Y 1939 1939 missense 0.005 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603631225 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32342204du p null A null 1941 1941 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990640 A0A075B6G3 DMD Dystrophin TOPMed rs1172177507 Xp21.1 X 32342200G> A null A V 1941 1941 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs977284401 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:375 Xp21.1 X 32342198C> T null A T 1942 1942 missense 0.475 possibly damaging 0.19 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs773764541 Xp21.1 X 32342197G> A null A V 1942 1942 missense 0.547 possibly damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs181849614 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32342195T> C null M V 1943 1943 2.65E-4 missense 0.0 benign 0.33 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001169757 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs181849614 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32342195T> C null M V 1943 1943 2.65E-4 missense 0.0 benign 0.33 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001086404 A0A075B6G3 DMD Dystrophin dbSNP rs1603631223 Xp21.1 X 32342182G> T null P Q 1947 1947 missense 0 A0A075B6G3 DMD Dystrophin gnomAD rs1463348902 Xp21.1 X 32342180T> C null T A 1948 1948 missense 0.137 benign 0.7 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs748960678 Xp21.1 X 32342179G> A null T I 1948 1948 missense 0.059 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs748960678 Xp21.1 X 32342179G> C null T S 1948 1948 missense 0.02 benign 0.78 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP rs773643220 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32342171G> A null Q * 1951 1951 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000693813 A0A075B6G3 DMD Dystrophin ExAC rs773643220 Xp21.1 X 32342171G> T null Q K 1951 1951 missense 0.014 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1436429780 Xp21.1 X 32342168G> C null L V 1952 1952 missense 0.664 possibly damaging 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1430944728 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32342164C> T null S N 1953 1953 missense 0.003 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000814515 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770281271 Xp21.1 X 32342163G> T null S R 1953 1953 missense 0.211 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs377039314 Xp21.1 X 32342159G> A null R C 1955 1955 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,dbSNP,gnomAD rs200455300 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32342158C> T null R H 1955 1955 2.65E-4 missense 0.997 probably damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630525 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727666 Xp21.1 X 32342154C> T null W * 1956 1956 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569558906 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32342155C> T null W * 1956 1956 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000824292 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs372482766 Xp21.1 X 32342152C> T null R Q 1957 1957 missense 0.009 benign 0.64 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs755477994 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32342153G> A null R W 1957 1957 missense 0.886 possibly damaging 0.01 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000766087 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs755477994 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32342153G> A null R W 1957 1957 missense 0.886 possibly damaging 0.01 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000766087 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs755477994 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32342153G> A null R W 1957 1957 missense 0.886 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000766087,ClinVar:RCV001057446 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057524825 Xp21.1 X 32342150C> A null E * 1958 1958 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs780022280 Xp21.1 X 32342148T> A null E D 1958 1958 missense 0.046 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1057524825 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 Xp21.1 X 32342150C> T null E K 1958 1958 missense 0.575 possibly damaging 0.04 deleterious 1 A0A075B6G3 DMD Dystrophin TOPMed rs1306182225 Xp21.1 X 32342146A> G null I T 1959 1959 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs886044193 Xp21.1 X 32342141_32342142TC[1 ] null S null 1961 1961 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1217612438 Xp21.1 X 32342139G> T null S R 1961 1961 missense 0.922 probably damaging 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1060502646 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32342133_32342140de l null K null 1962 1962 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000457394 A0A075B6G3 DMD Dystrophin gnomAD rs1325956986 Xp21.1 X 32342132C> A null A S 1964 1964 missense 0.804 possibly damaging 0.38 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP,gnomAD rs128626249 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:376,cosmic_study:419,pubmed:8401539 Xp21.1 X 32342123G> A null R * 1967 1967 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012009 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs750268924 Xp21.1 X 32342122C> A null R L 1967 1967 2.65E-4 missense 0.22 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs750268924 Xp21.1 X 32342122C> T null R Q 1967 1967 2.65E-4 missense 0.334 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1462393364 Xp21.1 X 32342112G> C null N K 1970 1970 missense 0.205 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs951731570 Xp21.1 X 32342113T> C null N S 1970 1970 missense 0.036 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557290181 Xp21.1 X 32342112de l null F null 1971 1971 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC rs755877797 Xp21.1 X 32342109A> C null F L 1971 1971 missense 0.013 benign 0.54 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1351121628 Xp21.1 X 32342108C> A null A S 1972 1972 missense 0.756 possibly damaging 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863225005 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32342105G> A null Q * 1973 1973 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201134 A0A075B6G3 DMD Dystrophin gnomAD rs1159819814 Xp21.1 X 32310276G> A null H Y 1975 1975 missense 0.189 benign 0.9 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1314263909 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310270C> G null V L 1977 1977 missense 0.003 benign 0.69 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630532 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148135406 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310266C> T null R H 1978 1978 5.3E-4 missense 0.0 benign 0.6 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001082959 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148135406 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310266C> A null R L 1978 1978 5.3E-4 missense 0.017 benign 0.39 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000405759 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148135406 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310266C> A null R L 1978 1978 5.3E-4 missense 0.017 benign 0.39 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001078708 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124001 Xp21.1 X 32310261C> A null E * 1980 1980 stop gained 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs140575687 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310257G> A null T M 1981 1981 missense 0.682 possibly damaging 0.07 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000808527 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs140575687 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310257G> C null T R 1981 1981 missense 0.575 possibly damaging 0.05 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001230896 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1241760732 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 Xp21.1 X 32310253C> T null M I 1982 1982 missense 0.005 benign 0.48 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000531367 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1057522070 Xp21.1 X 32310250C> T null M I 1983 1983 missense 0.0 benign 0.41 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs994986229 Xp21.1 X 32310249C> T null V M 1984 1984 missense 0.357 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs752439411 Xp21.1 X 32310246T> C null M V 1985 1985 missense 0.0 benign 0.76 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs899430446 Xp21.1 X 32310242G> A null T I 1986 1986 missense 0.063 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs767230028 Xp21.1 X 32310239T> C null E G 1987 1987 missense 0.003 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs754876601 Xp21.1 X 32310236T> C null D G 1988 1988 missense 0.0 benign 0.55 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1219096557 Xp21.1 X 32310237C> A null D Y 1988 1988 missense 0.353 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs961227665 Xp21.1 X 32310230G> A null P L 1990 1990 missense 0.012 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1343502927 Xp21.1 X 32310231G> A null P S 1990 1990 missense 0.01 benign 0.57 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1343502927 Xp21.1 X 32310231G> T null P T 1990 1990 missense 0.138 benign 0.7 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569556948 Xp21.1 X 32310229de l null L null 1991 1991 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1187189771 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310222T> A null I F 1993 1993 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000795967 A0A075B6G3 DMD Dystrophin TOPMed rs1187189771 Xp21.1 X 32310222T> C null I V 1993 1993 missense 0.0 benign 0.47 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1131691292 Xp21.1 X 32310215de l null Y null 1995 1995 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128627257 [ClinVar]: Duchenne muscular dystrophy pubmed:17024373 Xp21.1 X 32310214A> C null Y * 1995 1995 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012042 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751445942 Xp21.1 X 32310216A> C null Y D 1995 1995 missense 0.104 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147927593 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310215T> A null Y F 1995 1995 0.002384 missense 0.001 benign 0.48 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001081041 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751445942 Xp21.1 X 32310216A> G null Y H 1995 1995 missense 0.001 benign 0.42 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1478695865 Xp21.1 X 32310212A> G null V A 1996 1996 missense 0.034 benign 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1312712217 Xp21.1 X 32310209G> T null P H 1997 1997 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1326690953 Xp21.1 X 32310206G> A null S F 1998 1998 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs398124002 Xp21.1 X 32310199A> T null Y * 2000 2000 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603630432 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32310200T> A null Y F 2000 2000 missense 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV001027923 A0A075B6G3 DMD Dystrophin dbSNP rs1603630432 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32310200T> A null Y F 2000 2000 missense 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV001027923 A0A075B6G3 DMD Dystrophin dbSNP rs1603630432 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32310200T> A null Y F 2000 2000 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001027923,ClinVar:RCV001243442 A0A075B6G3 DMD Dystrophin dbSNP rs1603630432 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32310200T> A null Y F 2000 2000 missense 0 Dystrophin deficiency ClinVar:RCV001027923 A0A075B6G3 DMD Dystrophin gnomAD rs1319808956 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32310192C> T null E K 2003 2003 missense 0.936 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762531647 cosmic curated [Cosmic]: kidney cosmic_study:416 Xp21.1 X 32310185G> C null T S 2005 2005 missense 0.001 benign 0.16 tolerated 1 A0A075B6G3 DMD Dystrophin dbSNP rs1603630431 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310176G> C null S * 2008 2008 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990639 A0A075B6G3 DMD Dystrophin dbSNP rs1557272125 Xp21.1 X 32310173_32310174TG[1 ] null Q null 2009 2009 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569556943 Xp21.1 X 32310174G> A null Q * 2009 2009 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1383692886 Xp21.1 X 32310173T> C null Q R 2009 2009 missense 0.0 benign 0.69 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs72468613 Xp21.1 X 32310171C> A null A S 2010 2010 missense 0.02 benign 0.96 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1168200234 Xp21.1 X 32310170G> A null A V 2010 2010 missense 0.034 benign 0.32 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764943244 Xp21.1 X 32310161T> C null E G 2013 2013 missense 0.356 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs201532491 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310150G> T null L I 2017 2017 missense 0.065 benign 0.21 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001169756 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs201532491 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310150G> T null L I 2017 2017 missense 0.065 benign 0.21 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000805105 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs367702968 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32310147G> T null L I 2018 2018 2.65E-4 missense 0.164 benign 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000230029 A0A075B6G3 DMD Dystrophin ExAC rs768910735 Xp21.1 X 32310146A> C null L R 2018 2018 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761156889 Xp21.1 X 32310143T> C null N S 2019 2019 missense 0.015 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs765460659 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310141C> G null A P 2020 2020 missense 0.522 possibly damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630570 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs765460659 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310141C> A null A S 2020 2020 missense 0.006 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001225707 A0A075B6G3 DMD Dystrophin TOPMed rs900835174 Xp21.1 X 32310140G> A null A V 2020 2020 missense 0.021 benign 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1268223950 Xp21.1 X 32310135C> T null D N 2022 2022 missense 0.127 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1341614956 Xp21.1 X 32310134T> A null D V 2022 2022 missense 0.22 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs869312948 Xp21.1 X 32310132G> A null L F 2023 2023 missense 0.222 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs869312948 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310132G> T null L I 2023 2023 missense 0.767 possibly damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000692289 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1060502662 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310131A> C null L R 2023 2023 missense 0.967 probably damaging 0.06 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000473228 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs869312948 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310132G> C null L V 2023 2023 missense 0.823 possibly damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630514 A0A075B6G3 DMD Dystrophin ESP,dbSNP,gnomAD rs373804251 Xp21.1 X 32310127A> T null C * 2024 2024 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772603087 Xp21.1 X 32310123T> C null K E 2026 2026 missense 0.001 benign 0.64 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1289456469 Xp21.1 X 32310116A> G null F S 2028 2028 missense 0.802 possibly damaging 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs886043520 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310107A> G null L P 2031 2031 missense 0.926 probably damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000689302 A0A075B6G3 DMD Dystrophin gnomAD rs1244983070 Xp21.1 X 32310108G> C null L V 2031 2031 missense 0.079 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1333270456 Xp21.1 X 32310104A> C null F C 2032 2032 missense 0.77 possibly damaging 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1280262410 Xp21.1 X 32310101T> C null K R 2033 2033 missense 0.516 possibly damaging 0.33 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs144754029 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32310098T> A null Q L 2034 2034 missense 0.149 benign 0.05 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001042125 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs144754029 Xp21.1 X 32310098T> G null Q P 2034 2034 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs331312 Xp21.1 X 32310094C> A null E D 2035 2035 missense 0.523 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749441036 Xp21.1 X 32287697A> G null I T 2041 2041 missense 0.237 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1178785582 Xp21.1 X 32287695T> C null K E 2042 2042 missense 0.686 possibly damaging 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs863225006 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32287690_32287693de l null D null 2043 2043 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201192 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs777836766 Xp21.1 X 32287691T> C null D G 2043 2043 missense 0.047 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs780018882 Xp21.1 X 32287681T> A null Q H 2046 2046 missense 0.269 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057516028 Xp21.1 X 32287680G> A null Q * 2047 2047 stop gained 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,dbSNP,gnomAD rs773782786 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32287679T> C null Q R 2047 2047 0.00106 missense 0.001 benign 0.8 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630585 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs200494003 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32287676C> T null S N 2048 2048 missense 0.134 benign 0.06 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000556524 A0A075B6G3 DMD Dystrophin Ensembl rs878911532 Xp21.1 X 32287673G> C null S * 2049 2049 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603629988 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32287668de l null R null 2051 2051 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990638 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs756696562 NCI-TCGA Cosmic [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23917401,cosmic_study:329,cosmic_study:552 Xp21.1 X 32287667C> T null R Q 2051 2051 missense 0.003 benign 1.0 tolerated 1 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs140791274 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 Xp21.1 X 32287668G> A null R W 2051 2051 missense 0.84 possibly damaging 0.01 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000459246 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753426129 Xp21.1 X 32287664A> T null I N 2052 2052 missense 0.921 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753426129 Xp21.1 X 32287664A> G null I T 2052 2052 missense 0.662 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763610153 Xp21.1 X 32287661T> C null D G 2053 2053 missense 0.001 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC rs374067703 Xp21.1 X 32287656T> A null I F 2055 2055 missense 0.894 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1262006699 Xp21.1 X 32287655A> C null I S 2055 2055 missense 0.743 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1223831132 Xp21.1 X 32287652T> G null H P 2056 2056 missense 0.373 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1269996314 Xp21.1 X 32287649C> A null S I 2057 2057 missense 0.056 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1326979286 Xp21.1 X 32287646T> C null K R 2058 2058 missense 0.026 benign 0.87 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs794729000 Xp21.1 X 32287640G> A null T I 2060 2060 missense 0.038 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs398124005 Xp21.1 X 32287637de l null A null 2061 2061 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs984988217 Xp21.1 X 32287638C> T null A T 2061 2061 missense 0.007 benign 0.5 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP,gnomAD rs767872954 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32287625C> A null S I 2065 2065 missense 0.301 benign 0.12 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000820213 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1468473458 Xp21.1 X 32287623C> A null A S 2066 2066 missense 0.514 possibly damaging 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1468473458 Xp21.1 X 32287623C> T null A T 2066 2066 missense 0.584 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1452421485 Xp21.1 X 32287622G> A null A V 2066 2066 missense 0.939 probably damaging 0.24 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1405599353 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32287619G> A null T M 2067 2067 missense 0.021 benign 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001052071 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759958716 Xp21.1 X 32287617G> A null P S 2068 2068 missense 0.003 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1060502640 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32287614de l null V null 2069 2069 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000466920 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs774825173 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32287607C> T null R K 2071 2071 missense 0.0 benign 0.84 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs774825173 Xp21.1 X 32287607C> G null R T 2071 2071 missense 0.0 benign 0.67 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773372553 Xp21.1 X 32287602T> C null K E 2073 2073 missense 0.005 benign 0.58 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043428 Xp21.1 X 32287596G> A null Q * 2075 2075 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA rs398124007 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32287593C> A null E * 2076 2076 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs769860404 Xp21.1 X 32287590C> A null A S 2077 2077 missense 0.011 benign 0.39 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs748419295 Xp21.1 X 32287587G> A null L F 2078 2078 missense 0.739 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs748419295 Xp21.1 X 32287587G> T null L I 2078 2078 missense 0.069 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1242090695 Xp21.1 X 32287583G> C null S C 2079 2079 missense 0 A0A075B6G3 DMD Dystrophin gnomAD rs1242090695 Xp21.1 X 32287583G> A null S F 2079 2079 missense 0.121 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1459739530 Xp21.1 X 32287584A> G null S P 2079 2079 missense 0.104 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727672 Xp21.1 X 32287583de l null Q null 2080 2080 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557263852 Xp21.1 X 32287579C> A null Q H 2080 2080 missense 0.736 possibly damaging 0.4 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1340785309 Xp21.1 X 32287581G> T null Q K 2080 2080 missense 0.034 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs866100399 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32287563C> T null E K 2086 2086 missense 0.015 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1215888256 Xp21.1 X 32287557C> G null V L 2088 2088 missense 0.017 benign 0.85 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs768608166 Xp21.1 X 32287551T> A null K * 2090 2090 2.65E-4 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs771990386 Xp21.1 X 32287546C> T null M I 2091 2091 missense 0.001 benign 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1281510987 Xp21.1 X 32287547A> G null M T 2091 2091 missense 0.038 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569555987 Xp21.1 X 32287543G> C null Y * 2092 2092 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs745717858 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32287544T> C null Y C 2092 2092 missense 0.224 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1317673864 Xp21.1 X 32287542T> C null K E 2093 2093 missense 0.467 possibly damaging 0.36 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569555985 Xp21.1 X 32287540C> A null K N 2093 2093 missense 0.015 benign 0.55 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP,gnomAD rs398124008 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 32287536G> A null R * 2095 2095 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000809481 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs370638522 Xp21.1 X 32287535C> A null R L 2095 2095 missense 0.498 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs748694120 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32287530C> T null G R 2097 2097 missense 0.03 benign 0.37 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs748694120 Xp21.1 X 32287530C> G null G R 2097 2097 missense 0.03 benign 0.37 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626250 cosmic curated [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy cosmic_study:376,pubmed:7951253 Xp21.1 X 32217062G> A null R * 2098 2098 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012011 A0A075B6G3 DMD Dystrophin Ensembl rs128626250 Xp21.1 X 32217062G> C null R G 2098 2098 missense 0.278 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774305637 Xp21.1 X 32217061C> T null R Q 2098 2098 missense 0.005 benign 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1229763776 Xp21.1 X 32217058A> G null F S 2099 2099 missense 0.848 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1405580642 Xp21.1 X 32217059A> C null F V 2099 2099 missense 0.713 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603628487 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32217054de l null D null 2100 2100 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990637 A0A075B6G3 DMD Dystrophin Ensembl rs868260284 Xp21.1 X 32217052C> A null R I 2101 2101 missense 0.894 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1366147187 Xp21.1 X 32217047C> T null V I 2103 2103 missense 0.076 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557218269 Xp21.1 X 32217037C> T null W * 2106 2106 stop gained 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142807436 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.1 X 32217034C> T null R Q 2107 2107 2.65E-4 missense 0.939 probably damaging 0.38 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000853038 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142807436 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.1 X 32217034C> T null R Q 2107 2107 2.65E-4 missense 0.939 probably damaging 0.38 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167894 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142807436 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.1 X 32217034C> T null R Q 2107 2107 2.65E-4 missense 0.939 probably damaging 0.38 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001083222 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs770711808 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32217035G> A null R W 2107 2107 missense 0.235 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16990169 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32217032G> A null R C 2108 2108 0.01325 missense 0.54 possibly damaging 0.02 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000279099 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16990169 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32217032G> A null R C 2108 2108 0.01325 missense 0.54 possibly damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000227861 A0A075B6G3 DMD Dystrophin TOPMed rs1291065884 NCI-TCGA Cosmic [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 Xp21.1 X 32217031C> T null R H 2108 2108 missense 0.001 benign 0.3 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs755634705 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32217020C> A null D Y 2112 2112 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398124011 Xp21.1 X 32217014T> A null K * 2114 2114 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs754245656 Xp21.1 X 32217009T> C null I M 2115 2115 missense 0.006 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603628485 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32216998C> T null W * 2119 2119 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990636 A0A075B6G3 DMD Dystrophin dbSNP rs1603628483 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32216997C> T null W * 2119 2119 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990635 A0A075B6G3 DMD Dystrophin dbSNP rs1603628482 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32216990_32216991de l null E null 2122 2122 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990634 A0A075B6G3 DMD Dystrophin gnomAD rs1480437471 Xp21.1 X 32216984C> T null E K 2124 2124 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626251 [ClinVar]: Duchenne muscular dystrophy pubmed:8364587 Xp21.1 X 32216981G> A null Q * 2125 2125 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012012 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs766781970 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32216979C> A null Q H 2125 2125 missense 0.003 benign 0.12 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000920378 A0A075B6G3 DMD Dystrophin TOPMed rs1472925030 Xp21.1 X 32216970T> A null R S 2128 2128 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs758768498 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 32216967C> A null K N 2129 2129 missense 0.205 benign 0.25 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC rs750938638 Xp21.1 X 32216966T> A null T S 2130 2130 missense 0.053 benign 0.96 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs398124012 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32216963_32216964GT[1 ] null Q null 2131 2131 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000313930 A0A075B6G3 DMD Dystrophin dbSNP rs398124012 Xp21.1 X 32216963_32216964GT[3 ] null Q null 2131 2131 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs886043157 Xp21.1 X 32216961_32216962insG T null I null 2132 2132 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs765726373 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 32216957G> A null P S 2133 2133 missense 0.015 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761965562 Xp21.1 X 32216954C> T null E K 2134 2134 missense 0.149 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557218131 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32216946C> T null W * 2136 2136 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630536 A0A075B6G3 DMD Dystrophin dbSNP rs1603628479 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32216947C> T null W * 2136 2136 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990633 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1023328955 Xp21.1 X 32216945C> T null E K 2137 2137 missense 0.003 benign 0.36 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1023328955 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32216945C> G null E Q 2137 2137 missense 0.088 benign 0.28 tolerated 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000766086 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1023328955 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32216945C> G null E Q 2137 2137 missense 0.088 benign 0.28 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000766086 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1023328955 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 32216945C> G null E Q 2137 2137 missense 0.088 benign 0.28 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000557446,ClinVar:RCV000766086 A0A075B6G3 DMD Dystrophin dbSNP rs1557218093 Xp21.1 X 32216931de l null K * 2140 2141 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1425702864 Xp21.1 X 32216931G> T null Y * 2141 2141 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557218076 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32216930T> A null K * 2142 2142 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000535811 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569551376 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 32216923T> A null Y F 2144 2144 missense 0.32 benign 0.24 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000689631 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760988537 Xp21.1 X 32216921G> T null L I 2145 2145 missense 0.381 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774219434 Xp21.1 X 32216918T> G null K Q 2146 2146 missense 0.034 benign 0.66 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1241182813 Xp21.1 X 31968514C> T null E K 2147 2147 missense 0.987 probably damaging 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1351380974 Xp21.1 X 31968507T> C null Q R 2149 2149 missense 0.088 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs727503815 Xp21.1 X 31968501C> G null G A 2151 2151 missense 0.278 benign 0.24 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs727503815 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31968501C> T null G D 2151 2151 missense 0.947 probably damaging 0.13 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630533 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs752949623 Xp21.1 X 31968499T> A null I F 2152 2152 missense 0.522 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs767681834 [ClinVar]: Dilated cardiomyopathy 3B Xp21.1 X 31968498A> G null I T 2152 2152 missense 0.197 benign 0.02 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000389716 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs892121336 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31968489C> T null R Q 2155 2155 missense 0.003 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000706797 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800273 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 31968490G> A null R W 2155 2155 0.01298 missense 0.764 possibly damaging 0.02 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000576530 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800273 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 31968490G> A null R W 2155 2155 0.01298 missense 0.764 possibly damaging 0.02 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000351438 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800273 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 31968490G> A null R W 2155 2155 0.01298 missense 0.764 possibly damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000233842,ClinVar:RCV000576530 A0A075B6G3 DMD Dystrophin dbSNP rs1557038198 Xp21.1 X 31968481_31968482de l null V null 2158 2158 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1395996899 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31968477_31968479ACA[3 ] null V null 2159 2159 insertion 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001228152 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761755268 Xp21.1 X 31968474C> T null R K 2160 2160 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1446750643 Xp21.1 X 31968465T> C null N S 2163 2163 missense 0.391 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs768712703 Xp21.1 X 31968459G> T null T N 2165 2165 missense 0.043 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes rs781357643 Xp21.1 X 31968454C> T null E K 2167 2167 2.65E-4 missense 0.022 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs746582372 Xp21.1 X 31968453T> A null E V 2167 2167 missense 0.501 possibly damaging 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs779739455 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 31968451C> A null E * 2168 2168 stop gained 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000582216 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs779739455 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 31968451C> A null E * 2168 2168 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000210931 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs779739455 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31968451C> G null E Q 2168 2168 missense 0.124 benign 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs200981845 Xp21.1 X 31968444A> T null I N 2170 2170 2.65E-4 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1203447654 Xp21.1 X 31968442G> T null Q K 2171 2171 missense 0.087 benign 0.82 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1241248793 Xp21.1 X 31968438T> A null Q L 2172 2172 missense 0.14 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs779154603 Xp21.1 X 31968426G> A null T I 2176 2176 missense 0.005 benign 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1361261157 Xp21.1 X 31968418T> A null S C 2179 2179 missense 0.641 possibly damaging 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1361261157 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31968418T> C null S G 2179 2179 missense 0.003 benign 0.4 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000691059 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs752347162 Xp21.1 X 31968417C> T null S N 2179 2179 5.3E-4 missense 0.003 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1361261157 Xp21.1 X 31968418T> G null S R 2179 2179 missense 0.119 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1031932198 Xp21.1 X 31968415T> C null I V 2180 2180 missense 0.089 benign 0.58 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557038061 Xp21.1 X 31968409G> A null Q * 2182 2182 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs749804804 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31968408T> C null Q R 2182 2182 missense 0.012 benign 0.43 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630528 A0A075B6G3 DMD Dystrophin gnomAD rs1297126285 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31968385G> T null L M 2190 2190 missense 0.424 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs756238158 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:375 Xp21.1 X 31968381C> T null R Q 2191 2191 missense 1.0 probably damaging 0.02 deleterious 1 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs149322279 [ClinVar]: Familial dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31968382G> A null R W 2191 2191 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001081226 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs149322279 [ClinVar]: Familial dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31968382G> A null R W 2191 2191 missense 1.0 probably damaging 0.0 deleterious 0 Familial dilated cardiomyopathy (FDCM) Familial dilated cardiomyopathy is a genetic form of heart disease. MIM:PS115200 ClinVar:RCV000845549 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs764789298 Xp21.1 X 31968377C> A null W C 2192 2192 2.65E-4 missense 0.527 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1304218104 Xp21.1 X 31968373C> A null E * 2194 2194 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1304218104 Xp21.1 X 31968373C> T null E K 2194 2194 missense 0.005 benign 0.88 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs899738370 Xp21.1 X 31968369A> G null V A 2195 2195 missense 0.366 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1427091707 Xp21.1 X 31968370C> A null V F 2195 2195 missense 0.667 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs767738542 Xp21.1 X 31968366C> A null C F 2196 2196 missense 0.003 benign 0.32 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727677 Xp21.1 X 31968367A> G null C R 2196 2196 missense 0.038 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs755179126 Xp21.1 X 31968351T> C null D G 2201 2201 missense 0.014 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs863225007 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31968346_31968347de l null K null 2204 2204 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990632 A0A075B6G3 DMD Dystrophin dbSNP rs1603618489 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31968339C> A null R M 2205 2205 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000805890 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs139937177 Xp21.1 X 31932219T> C null E G 2208 2208 missense 0.025 benign 0.45 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs900089672 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31932210T> C null N S 2211 2211 missense 0.015 benign 0.5 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001203049 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs766648368 Xp21.1 X 31932208T> C null I V 2212 2212 missense 0.001 benign 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1430156647 Xp21.1 X 31932202A> C null S A 2214 2214 missense 0.079 benign 0.88 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569516166 Xp21.1 X 31932193G> A null Q * 2217 2217 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1201657749 Xp21.1 X 31932189C> T null R K 2218 2218 missense 0.011 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1201657749 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31932189C> G null R T 2218 2218 missense 0.199 benign 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557011929 Xp21.1 X 31932191_31932192de l null D null 2219 2219 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1481390052 Xp21.1 X 31932187C> G null D H 2219 2219 missense 0.964 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1060502620 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31932182de l null N null 2221 2221 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000470659 A0A075B6G3 DMD Dystrophin gnomAD rs1244868235 Xp21.1 X 31932181T> G null N H 2221 2221 missense 0.601 possibly damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1557011872 Xp21.1 X 31932174_31932177de l null E null 2222 2222 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1180468756 Xp21.1 X 31932177T> G null E A 2222 2222 missense 0.492 possibly damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1197908326 Xp21.1 X 31932172C> T null V I 2224 2224 missense 0.003 benign 0.57 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs797044743 Xp21.1 X 31932172_31932175du p null L null 2225 2225 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs757026131 Xp21.1 X 31932153G> C null A G 2230 2230 missense 0.475 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs753677881 Xp21.1 X 31932150T> C null D G 2231 2231 missense 0.0 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043675 Xp21.1 X 31932146G> C null N K 2232 2232 missense 0.007 benign 0.88 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs865992766 Xp21.1 X 31932142C> A null A S 2234 2234 missense 0.001 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1316893006 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31932138C> T null S N 2235 2235 missense 0.0 benign 0.14 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000527210 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1316893006 Xp21.1 X 31932138C> G null S T 2235 2235 missense 0.001 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1263279166 Xp21.1 X 31932129A> G null L P 2238 2238 missense 0.0 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs142531761 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31932110C> G null Q H 2244 2244 missense 0.001 benign 0.24 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000541941 A0A075B6G3 DMD Dystrophin gnomAD rs1274712958 Xp21.1 X 31932105A> G null L P 2246 2246 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs916265026 Xp21.1 X 31932102T> C null K R 2247 2247 missense 0.003 benign 0.85 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1225845015 Xp21.1 X 31932098T> G null E D 2248 2248 missense 0.025 benign 0.72 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1261686336 Xp21.1 X 31932094G> A null L F 2250 2250 missense 0.471 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603615883 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31932088G> A null Q * 2252 2252 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990631 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1193463758 Xp21.1 X 31932084A> T null V D 2253 2253 missense 0.741 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs201818335 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31932082T> A null K * 2254 2254 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990630 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs201818335 Xp21.1 X 31932082T> C null K E 2254 2254 missense 0.575 possibly damaging 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569516110 Xp21.1 X 31932080C> G null K N 2254 2254 missense 0.867 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs201818335 Xp21.1 X 31932082T> G null K Q 2254 2254 missense 0.187 benign 0.45 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs781757694 Xp21.1 X 31929741A> G null L P 2256 2256 missense 0.851 possibly damaging 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs768606547 Xp21.1 X 31929727G> A null P S 2261 2261 missense 0.637 possibly damaging 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,TOPMed,dbSNP,gnomAD rs200045725 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31929721G> A null R C 2263 2263 0.0 missense 0.988 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000792728 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs780221745 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31929720C> T null R H 2263 2263 missense 0.329 benign 0.86 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs780221745 Xp21.1 X 31929720C> A null R L 2263 2263 missense 0.906 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626252 [ClinVar]: Duchenne muscular dystrophy pubmed:7951253 Xp21.1 X 31929718G> A null Q * 2264 2264 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012014 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs758654750 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31929709G> T null L I 2267 2267 missense 0.984 probably damaging 0.05 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000552438 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs758654750 Xp21.1 X 31929709G> C null L V 2267 2267 missense 0.966 probably damaging 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs886044490 Xp21.1 X 31929704_31929707de l null K null 2268 2268 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1557010214 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31929694C> T null E K 2272 2272 missense 0.061 benign 0.55 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630550 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753585077 Xp21.1 X 31929690G> A null T I 2273 2273 missense 0.034 benign 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs767347635 Xp21.1 X 31929682G> A null P S 2276 2276 missense 0.001 benign 0.72 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1051247530 Xp21.1 X 31929678A> C null V G 2277 2277 missense 0.088 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773807157 Xp21.1 X 31929679C> T null V M 2277 2277 missense 0.015 benign 0.32 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1338878151 Xp21.1 X 31929675A> G null L P 2278 2278 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs752561170 Xp21.1 X 31929673C> A null V L 2279 2279 missense 0.0 benign 0.62 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502614 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 31929669C> T null S N 2280 2280 missense 0.257 benign 0.18 tolerated 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000764877 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502614 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 31929669C> T null S N 2280 2280 missense 0.257 benign 0.18 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000764877 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502614 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 31929669C> T null S N 2280 2280 missense 0.257 benign 0.18 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000467397,ClinVar:RCV000764877 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs758935768 Xp21.1 X 31929668A> C null S R 2280 2280 missense 0.1 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs767538299 Xp21.1 X 31929670T> G null S R 2280 2280 missense 0.1 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs751145927 cosmic curated [Cosmic]: endometrium cosmic_study:419 Xp21.1 X 31929661T> C null I V 2283 2283 missense 0.014 benign 0.47 tolerated 1 A0A075B6G3 DMD Dystrophin ESP,gnomAD rs150312394 Xp21.1 X 31929656G> T null S R 2284 2284 missense 0.026 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1438782223 Xp21.1 X 31929654G> A null P L 2285 2285 missense 0.03 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs967525950 Xp21.1 X 31929646G> T null Q K 2288 2288 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs762708936 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31929645T> C null Q R 2288 2288 missense 0.0 benign 0.88 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000695263 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569515486 Xp21.1 X 31929634C> A null E * 2292 2292 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl rs1020631684 Xp21.1 X 31929632T> A null E D 2292 2292 missense 0.001 benign 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770051396 Xp21.1 X 31929633T> C null E G 2292 2292 missense 0.038 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762298935 Xp21.1 X 31929625G> A null L F 2295 2295 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs776984648 Xp21.1 X 31929621T> C null K R 2296 2296 missense 0.015 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769249649 Xp21.1 X 31929617C> A null Q H 2297 2297 missense 0.0 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1216360814 Xp21.1 X 31929615G> T null T K 2298 2298 missense 0.211 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs747055774 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31929612T> G null N T 2299 2299 missense 0.95 probably damaging 0.05 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000466186 A0A075B6G3 DMD Dystrophin gnomAD rs1360684185 Xp21.1 X 31929613T> A null N Y 2299 2299 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs398124036 Xp21.1 X 31929602C> T null W * 2302 2302 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs398124036 Xp21.1 X 31929602C> A null W C 2302 2302 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs201598139 Xp21.1 X 31929596C> G null K N 2304 2304 2.65E-4 missense 0.948 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs201598139 Xp21.1 X 31929596C> A null K N 2304 2304 2.65E-4 missense 0.948 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs535832279 Xp21.1 X 31929598T> G null K Q 2304 2304 missense 0.495 possibly damaging 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569515455 Xp21.1 X 31929597T> C null K R 2304 2304 missense 0.905 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772121758 Xp21.1 X 31875369G> C null S C 2306 2306 missense 0.729 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1338600297 Xp21.1 X 31875358G> A null P S 2310 2310 missense 0.477 possibly damaging 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1338600297 Xp21.1 X 31875358G> T null P T 2310 2310 missense 0.844 possibly damaging 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774402332 Xp21.1 X 31875346C> T null G R 2314 2314 missense 0.0 benign 0.57 tolerated 0 A0A075B6G3 DMD Dystrophin NCI-TCGA,gnomAD rs398124038 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 31875343C> A null E * 2315 2315 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs398124038 Xp21.1 X 31875343C> T null E K 2315 2315 missense 0.015 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771215006 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875333G> A null A V 2318 2318 missense 0.0 benign 0.56 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000867673 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128625230 [ClinVar]: Duchenne muscular dystrophy pubmed:1513469 Xp21.1 X 31875331G> A null Q * 2319 2319 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011971 A0A075B6G3 DMD Dystrophin dbSNP rs1603514135 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875329T> G null Q H 2319 2319 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001222649 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1465907696 Xp21.1 X 31875323T> G null K N 2321 2321 missense 0.06 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1346047865 Xp21.1 X 31875322C> G null D H 2322 2322 missense 0.038 benign 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs953045161 Xp21.1 X 31875319G> A null L F 2323 2323 missense 0.003 benign 0.65 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs747847667 Xp21.1 X 31875318A> T null L H 2323 2323 missense 0.007 benign 0.5 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs747847667 Xp21.1 X 31875318A> G null L P 2323 2323 missense 0.003 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs781054741 Xp21.1 X 31875313G> T null Q K 2325 2325 missense 0.003 benign 0.58 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs754896795 Xp21.1 X 31875304T> A null K * 2328 2328 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs754896795 Xp21.1 X 31875304T> C null K E 2328 2328 missense 0.486 possibly damaging 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs398124040 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875306de l null K null 2329 2329 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000529334 A0A075B6G3 DMD Dystrophin gnomAD rs1466856246 Xp21.1 X 31875297A> G null L P 2330 2330 missense 0.207 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1420885213 Xp21.1 X 31875286C> T null E K 2334 2334 missense 0.014 benign 0.44 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs746939168 Xp21.1 X 31875283C> T null E K 2335 2335 missense 0.062 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1352231346 Xp21.1 X 31875278C> G null Q H 2336 2336 missense 0.003 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603513931 Xp21.1 X 31875277A> C null L V 2337 2337 missense 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs780199119 Xp21.1 X 31875273T> C null N S 2338 2338 missense 0.009 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs398124041 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875270T> C null H R 2339 2339 missense 0.0 benign 0.29 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000544107 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1189846429 Xp21.1 X 31875268G> T null L M 2340 2340 missense 0.998 probably damaging 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569492076 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875267A> G null L P 2340 2340 missense 0.998 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000695497 A0A075B6G3 DMD Dystrophin dbSNP rs1603513828 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875259de l null W null 2343 2343 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990627 A0A075B6G3 DMD Dystrophin dbSNP rs1603513817 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875258C> T null W * 2343 2343 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990626 A0A075B6G3 DMD Dystrophin dbSNP rs1603513803 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875257C> T null W * 2343 2343 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990625 A0A075B6G3 DMD Dystrophin gnomAD rs1257560887 Xp21.1 X 31875249G> A null P L 2346 2346 missense 0.009 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1316260598 Xp21.1 X 31875250G> A null P S 2346 2346 missense 0.001 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764512011 Xp21.1 X 31875243C> A null R M 2348 2348 missense 0.785 possibly damaging 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764512011 Xp21.1 X 31875243C> G null R T 2348 2348 missense 0.199 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC rs754098846 Xp21.1 X 31875244T> A null R W 2348 2348 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603513697 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875229_31875238de l null Q null 2350 2350 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000792592 A0A075B6G3 DMD Dystrophin dbSNP rs1556962326 Xp21.1 X 31875233_31875234de l null Q * 2350 2351 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs761082809 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31875236C> A null Q H 2350 2350 missense 0.785 possibly damaging 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs374862112 Xp21.1 X 31875234A> C null L W 2351 2351 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs759570455 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875221G> T null N K 2355 2355 missense 0.001 benign 0.45 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000529984 A0A075B6G3 DMD Dystrophin gnomAD rs1366729351 Xp21.1 X 31875222T> C null N S 2355 2355 missense 0.0 benign 0.45 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1060502659 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875217_31875218de l null Q null 2356 2356 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000456686 A0A075B6G3 DMD Dystrophin dbSNP rs1603513680 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875219de l null Q null 2356 2356 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990624 A0A075B6G3 DMD Dystrophin dbSNP rs1603513684 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875220G> A null Q * 2356 2356 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000793324 A0A075B6G3 DMD Dystrophin gnomAD rs1448590525 Xp21.1 X 31875216G> T null P Q 2357 2357 missense 0.522 possibly damaging 0.32 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs141151675 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875201G> T null P Q 2362 2362 missense 0.265 benign 0.09 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167296 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs141151675 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875201G> T null P Q 2362 2362 missense 0.265 benign 0.09 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001089128 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770999942 Xp21.1 X 31875197A> C null F L 2363 2363 missense 0.003 benign 0.84 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556962271 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875198_31875201du p null D null 2364 2364 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000625746 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773374045 Xp21.1 X 31875196C> G null D H 2364 2364 missense 0.03 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773374045 Xp21.1 X 31875196C> T null D N 2364 2364 missense 0.011 benign 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs746851176 Xp21.1 X 31875193C> T null V I 2365 2365 missense 0.0 benign 0.91 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1800275 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 31875190 = null Q K 2366 2366 missense 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000490476,ClinVar:RCV000576734 A0A075B6G3 DMD Dystrophin dbSNP rs1800275 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 31875190 = null Q K 2366 2366 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000204283,ClinVar:RCV000576734 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800275 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31875190T> G null K Q 2366 2366 0.1833 missense 0.076 benign 0.51 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990623 A0A075B6G3 DMD Dystrophin gnomAD rs1180877753 Xp21.1 X 31875189T> C null K R 2366 2366 missense 0.644 possibly damaging 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1438156593 Xp21.1 X 31836815G> A null T I 2368 2368 missense 0.0 benign 0.42 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863225008 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31836813C> A null E * 2369 2369 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201085 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs767961100 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp21.1 X 31836806G> T null A E 2371 2371 missense 0.306 benign 0.44 tolerated 1 A0A075B6G3 DMD Dystrophin TOPMed rs1246290639 Xp21.1 X 31836798C> T null A T 2374 2374 missense 0.182 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760048714 Xp21.1 X 31836794T> A null K I 2375 2375 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774228400 Xp21.1 X 31836791T> A null Q L 2376 2376 missense 0.511 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201262489 NCI-TCGA Cosmic [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:377 Xp21.1 X 31836788G> A null P L 2377 2377 2.65E-4 missense 0.001 benign 0.01 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001078740 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1482902676 Xp21.1 X 31836786C> T null D N 2378 2378 missense 0.053 benign 0.78 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763001729 Xp21.1 X 31836770A> G null L S 2383 2383 missense 0.972 probably damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs185706283 Xp21.1 X 31836767G> C null S C 2384 2384 0.001589 missense 0.112 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1351313240 Xp21.1 X 31836768A> G null S P 2384 2384 missense 0.865 possibly damaging 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs185706283 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31836767G> T null S Y 2384 2384 0.001589 missense 0.906 possibly damaging 0.01 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000329097 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs185706283 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31836767G> T null S Y 2384 2384 0.001589 missense 0.906 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001082093 A0A075B6G3 DMD Dystrophin TOPMed rs1377942320 Xp21.1 X 31836762C> T null G R 2386 2386 missense 0.726 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556930579 Xp21.1 X 31836759G> A null Q * 2387 2387 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1245118828 Xp21.1 X 31836758T> G null Q P 2387 2387 missense 0.001 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1341871152 Xp21.1 X 31836756G> A null H Y 2388 2388 missense 0.006 benign 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs770183212 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 31836748G> C null Y * 2390 2390 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770183212 Xp21.1 X 31836748G> T null Y * 2390 2390 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed rs1420914249 Xp21.1 X 31836749T> C null Y C 2390 2390 missense 0.96 probably damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556930538 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31836746T> C null K R 2391 2391 missense 0.02 benign 0.46 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000537623 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775450831 Xp21.1 X 31836744C> T null E K 2392 2392 missense 0.017 benign 0.36 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1386330562 Xp21.1 X 31836743T> A null E V 2392 2392 missense 0.086 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs202090289 Xp21.1 X 31836739T> G null K N 2393 2393 missense 0.022 benign 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs202090289 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31836739T> A null K N 2393 2393 missense 0.022 benign 0.28 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001088379 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772080267 Xp21.1 X 31836740T> G null K T 2393 2393 missense 0.236 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72466590 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 31836735C> T null A T 2395 2395 2.65E-4 missense 0.003 benign 0.62 tolerated 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000509543 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72466590 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 31836735C> T null A T 2395 2395 2.65E-4 missense 0.003 benign 0.62 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000509543,ClinVar:RCV001167295 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs72466590 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.1 X 31836735C> T null A T 2395 2395 2.65E-4 missense 0.003 benign 0.62 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990621 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1057519106 cosmic curated [Cosmic]: stomach, [ClinVar]: Duchenne muscular dystrophy pubmed:22037554,cosmic_study:479 Xp21.1 X 31836731G> A null T I 2396 2396 missense 0.127 benign 0.19 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000457466 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124042 Xp21.1 X 31836729G> A null Q * 2397 2397 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1262340522 Xp21.1 X 31820079T> G null K T 2402 2402 missense 0.571 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398124043 Xp21.1 X 31820055C> T null W * 2410 2410 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs771992420 cosmic curated [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 31820049G> A null A V 2412 2412 missense 0.007 benign 0.4 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000921972 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs373604575 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31820047C> T null V I 2413 2413 missense 0.036 benign 1.0 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165709 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs373604575 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31820047C> T null V I 2413 2413 missense 0.036 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000805393 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139395045 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31820041G> A null R C 2415 2415 0.00106 missense 0.085 benign 0.18 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001079174 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs373749120 NCI-TCGA Cosmic [Cosmic]: bone, [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23770606,cosmic_study:376,cosmic_study:486 Xp21.1 X 31820040C> T null R H 2415 2415 5.3E-4 missense 0.0 benign 0.57 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000469168 A0A075B6G3 DMD Dystrophin dbSNP rs797044764 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31820039du p null L null 2416 2416 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001205232 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569452000 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31820037A> T null L * 2416 2416 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000689427 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569451994 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31820032G> A null Q * 2418 2418 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000707095 A0A075B6G3 DMD Dystrophin dbSNP rs1556917057 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31820018de l null K null 2423 2423 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000558238 A0A075B6G3 DMD Dystrophin gnomAD rs1318139017 Xp21.1 X 31820011G> A null P S 2425 2425 missense 0.098 benign 0.37 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777276620 Xp21.1 X 31820001G> T null A D 2428 2428 missense 0.323 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1175419769 Xp21.1 X 31820002C> T null A T 2428 2428 missense 0.003 benign 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs200078222 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31819996C> G null G R 2430 2430 missense 0.134 benign 0.38 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000806385 A0A075B6G3 DMD Dystrophin dbSNP rs794727746 Xp21.1 X 31819988_31819989de l null T null 2432 2432 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs895117941 Xp21.1 X 31819984T> G null I L 2434 2434 missense 0.0 benign 0.78 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747793896 Xp21.1 X 31819983A> G null I T 2434 2434 missense 0.0 benign 0.52 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs895117941 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31819984T> C null I V 2434 2434 missense 0.0 benign 0.82 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000696243 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs780889764 Xp21.1 X 31819980C> A null G V 2435 2435 missense 0.054 benign 0.66 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs949501755 Xp21.1 X 31774186G> A null T I 2439 2439 missense 0.038 benign 0.5 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556880327 Xp21.1 X 31774183du p null T null 2441 2441 frameshift 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs146817002 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31774181T> G null T P 2441 2441 2.65E-4 missense 0.08 benign 0.12 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001085331 A0A075B6G3 DMD Dystrophin ExAC rs776243218 Xp21.1 X 31774175T> G null T P 2443 2443 missense 0.005 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs372593779 Xp21.1 X 31774157C> G null V L 2449 2449 missense 0.0 benign 0.53 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1348131883 Xp21.1 X 31774154C> G null V L 2450 2450 missense 0.034 benign 0.52 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043740 Xp21.1 X 31774148T> C null K E 2452 2452 missense 0.003 benign 0.4 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603464017 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31774139C> G null A P 2455 2455 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000798397 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1416125216 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31774138G> A null A V 2455 2455 missense 0.003 benign 0.39 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1467855560 Xp21.1 X 31774136T> C null I V 2456 2456 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs182761135 Xp21.1 X 31774132G> A null S F 2457 2457 missense 0.301 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1440011486 Xp21.1 X 31774126A> G null L P 2459 2459 missense 0.0 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs867040444 Xp21.1 X 31774127G> C null L V 2459 2459 missense 0.003 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs764330616 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31774105A> G null M T 2466 2466 2.65E-4 missense 0.0 benign 0.56 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000861784 A0A075B6G3 DMD Dystrophin dbSNP rs1254776844 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31774102A> T null L * 2467 2467 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000792361 A0A075B6G3 DMD Dystrophin TOPMed rs1254776844 Xp21.1 X 31774102A> G null L S 2467 2467 missense 0.053 benign 0.41 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs128626253 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:1301174 Xp21.1 X 31774100C> A null E * 2468 2468 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012017 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs128626253 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31774100C> G null E Q 2468 2468 missense 0.835 possibly damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000702954 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs757394130 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31774075T> C null N S 2476 2476 missense 0.444 benign 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001088963 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs764340452 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 31774072C> T null R Q 2477 2477 missense 0.005 benign 0.06 tolerated 1 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs759274835 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31774073G> A null R W 2477 2477 2.65E-4 missense 0.655 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001067594 A0A075B6G3 DMD Dystrophin TOPMed rs889319082 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31774069G> A null A V 2478 2478 missense 0.007 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1441223930 Xp21.1 X 31774067A> G null W R 2479 2479 missense 0.477 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1278457227 Xp21.1 X 31774064T> C null T A 2480 2480 missense 0.009 benign 0.79 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756296628 Xp21.1 X 31774060T> C null E G 2481 2481 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727749 Xp21.1 X 31774058de l null T null 2483 2483 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751312632 Xp21.1 X 31774054G> T null T N 2483 2483 missense 0.003 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs773102625 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31774052C> G null D H 2484 2484 missense 0.94 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630574 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs773102625 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31774052C> T null D N 2484 2484 missense 0.107 benign 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000686901 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs773102625 Xp21.1 X 31774052C> A null D Y 2484 2484 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs142500746 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31774048C> T null W * 2485 2485 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000793033 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs765207227 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31774047C> A null W C 2485 2485 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000807737 A0A075B6G3 DMD Dystrophin ESP,TOPMed rs142500746 Xp21.1 X 31774048C> A null W L 2485 2485 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs964229096 Xp21.1 X 31774033T> A null D V 2490 2490 missense 0.908 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761262819 Xp21.1 X 31774034C> A null D Y 2490 2490 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147694734 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31774030T> C null Q R 2491 2491 0.002119 missense 0.003 benign 0.73 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001084240 A0A075B6G3 DMD Dystrophin ExAC rs746652232 Xp21.1 X 31774016G> T null Q K 2496 2496 missense 0.712 possibly damaging 0.47 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1312256471 Xp21.1 X 31774012C> A null R M 2497 2497 missense 0.637 possibly damaging 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1040785221 Xp21.1 X 31774010C> T null V M 2498 2498 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs867197764 Xp21.1 X 31774003A> G null V A 2500 2500 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1240812601 Xp21.1 X 31774001C> A null G C 2501 2501 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775267736 Xp21.1 X 31774000C> T null G D 2501 2501 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1156593224 Xp21.1 X 31773995G> A null L F 2503 2503 missense 0.726 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1048379601 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31773986T> C null I V 2506 2506 missense 0.998 probably damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000701570 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs112516305 Xp21.1 X 31773981G> C null N K 2507 2507 missense 0.236 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs772316082 Xp21.1 X 31773982T> C null N S 2507 2507 missense 0.57 possibly damaging 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs779517657 Xp21.1 X 31773980C> T null E K 2508 2508 missense 0.063 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1207135550 Xp21.1 X 31773976A> G null M T 2509 2509 missense 0.028 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs757873067 Xp21.1 X 31773974T> C null I V 2510 2510 missense 0.642 possibly damaging 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1274761928 Xp21.1 X 31773966C> A null K N 2512 2512 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569386546 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31773964T> G null Q P 2513 2513 missense 0.602 possibly damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000687887 A0A075B6G3 DMD Dystrophin gnomAD rs1471491183 Xp21.1 X 31773962T> G null K Q 2514 2514 missense 0.868 possibly damaging 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs373728963 Xp21.1 X 31729747G> T null A E 2515 2515 missense 0.053 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1292403087 Xp21.1 X 31729741A> C null M R 2517 2517 missense 0.003 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1242923274 Xp21.1 X 31729738T> C null Q R 2518 2518 missense 0.239 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs771877780 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31729736C> T null D N 2519 2519 missense 0.453 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569308250 Xp21.1 X 31729730C> T null E K 2521 2521 missense 0.831 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603452207 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31729727G> A null Q * 2522 2522 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990617 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs886043732 Xp21.1 X 31729721G> A null R C 2524 2524 missense 0.562 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs151244052 cosmic curated [ClinVar]: Muscular dystrophy, [ClinVar]: Duchenne muscular dystrophy, [Cosmic]: pancreas pubmed:23103869,cosmic_study:328,cosmic_study:436 Xp21.1 X 31729720C> T null R H 2524 2524 0.00106 missense 0.0 benign 0.98 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990616 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs151244052 cosmic curated [ClinVar]: Muscular dystrophy, [ClinVar]: Duchenne muscular dystrophy, [Cosmic]: pancreas pubmed:23103869,cosmic_study:328,cosmic_study:436 Xp21.1 X 31729720C> T null R H 2524 2524 0.00106 missense 0.0 benign 0.98 tolerated 1 Muscular dystrophy ClinVar:RCV000148463 A0A075B6G3 DMD Dystrophin dbSNP rs1603452200 [ClinVar]: Myopathy Xp21.1 X 31729711A> T null L * 2527 2527 stop gained 0 Myopathy ClinVar:RCV000850325 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771509836 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31729706C> G null E Q 2529 2529 missense 0.239 benign 0.13 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000694041 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749802417 Xp21.1 X 31729702A> C null L R 2530 2530 missense 0.043 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs369583884 cosmic curated [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:22810696,cosmic_study:376,cosmic_study:585 Xp21.1 X 31729694C> T null A T 2533 2533 missense 0.284 benign 0.25 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000689796 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs961937321 Xp21.1 X 31729680C> G null L F 2537 2537 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603452196 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31729679du p null N null 2539 2539 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000800646 A0A075B6G3 DMD Dystrophin gnomAD rs1170441617 Xp21.1 X 31729662A> T null N K 2543 2543 missense 0.5 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs755223592 cosmic curated [Cosmic]: lung cosmic_study:583 Xp21.1 X 31729656C> A null E D 2545 2545 missense 0.026 benign 1.0 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs755223592 cosmic curated [Cosmic]: lung cosmic_study:583 Xp21.1 X 31729656C> G null E D 2545 2545 missense 0.026 benign 1.0 tolerated 1 A0A075B6G3 DMD Dystrophin gnomAD rs1434225618 Xp21.1 X 31729658C> T null E K 2545 2545 missense 0.581 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1368936548 Xp21.1 X 31729655C> A null A S 2546 2546 missense 0.096 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1016099168 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31729651C> G null R T 2547 2547 missense 0.76 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1006232878 Xp21.1 X 31729646T> C null I V 2549 2549 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs778691311 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22610119,pubmed:22820256,cosmic_study:379,cosmic_study:392,cosmic_study:402,cosmic_study:440 Xp21.1 X 31729639G> A null T M 2551 2551 missense 0.928 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794729001 Xp21.1 X 31729637C> T null D N 2552 2552 missense 0.014 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs398124050 cosmic curated [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:21822268,pubmed:24121792,cosmic_study:398,cosmic_study:419,cosmic_study:557,cosmic_study:581 Xp21.1 X 31729634G> A null R * 2553 2553 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000797219 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764127932 cosmic curated [Cosmic]: breast, [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414,cosmic_study:419 Xp21.1 X 31729633C> T null R Q 2553 2553 missense 0.007 benign 0.01 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001084508 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569221011 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679578T> C null I V 2557 2557 missense 0.012 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000689624 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124051 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679575G> A null Q * 2558 2558 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000539749 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124052 Xp21.1 X 31679565C> T null W * 2561 2561 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124053 Xp21.1 X 31679564C> T null W * 2561 2561 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs780319310 Xp21.1 X 31679552T> A null Q H 2565 2565 missense 0.045 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603445344 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679542G> A null Q * 2569 2569 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990615 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs371588290 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679535C> A null R L 2571 2571 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001246274 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs371588290 NCI-TCGA Cosmic [ClinVar]: Familial dilated cardiomyopathy, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.1 X 31679535C> T null R Q 2571 2571 missense 1.0 probably damaging 0.0 deleterious 1 Familial dilated cardiomyopathy (FDCM) Familial dilated cardiomyopathy is a genetic form of heart disease. MIM:PS115200 ClinVar:RCV000845460 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs757011771 Xp21.1 X 31679536G> A null R W 2571 2571 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756085930 Xp21.1 X 31679532C> T null R K 2572 2572 missense 0.023 benign 0.99 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603445332 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679530G> A null Q * 2573 2573 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990614 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs368164231 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679525C> G null Q H 2574 2574 missense 0.749 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000803400 A0A075B6G3 DMD Dystrophin gnomAD rs1434643270 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 Xp21.1 X 31679518C> T null E K 2577 2577 missense 0.457 possibly damaging 0.21 tolerated 1 A0A075B6G3 DMD Dystrophin TOPMed rs1030452427 Xp21.1 X 31679514A> G null M T 2578 2578 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763179470 Xp21.1 X 31679506C> T null D N 2581 2581 missense 0.891 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763179470 Xp21.1 X 31679506C> A null D Y 2581 2581 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs773656507 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679500T> C null T A 2583 2583 missense 0.005 benign 0.42 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630500 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs986918272 Xp21.1 X 31679499G> A null T I 2583 2583 missense 0.015 benign 0.39 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs762394978 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 31679492C> T null W * 2585 2585 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201144 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762394978 Xp21.1 X 31679492C> G null W C 2585 2585 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC rs765595016 Xp21.1 X 31679494A> G null W R 2585 2585 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1188347239 Xp21.1 X 31679485C> T null A T 2588 2588 missense 0.005 benign 0.33 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603445313 Xp21.1 X 31679481T> G null K T 2589 2589 missense 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603445311 Xp21.1 X 31679476de l null E null 2591 2591 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124055 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679476C> A null E * 2591 2591 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001034930 A0A075B6G3 DMD Dystrophin dbSNP rs878854621 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679466de l null Q null 2594 2594 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000232091 A0A075B6G3 DMD Dystrophin Ensembl rs573578099 Xp21.1 X 31679465C> A null Q H 2594 2594 missense 0.014 benign 0.65 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs777178221 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679466T> C null Q R 2594 2594 missense 0.003 benign 0.44 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630603 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1254164861 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679464C> A null V F 2595 2595 missense 0.007 benign 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000687333 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569220550 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679452C> G null A P 2599 2599 missense 0.5 possibly damaging 0.19 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000694639 A0A075B6G3 DMD Dystrophin dbSNP rs1569220550 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679452C> A null A S 2599 2599 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000796062 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747127624 Xp21.1 X 31679448C> A null R I 2600 2600 missense 0.166 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs892657975 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679445G> A null A V 2601 2601 missense 0.005 benign 0.29 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000705095 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775663860 Xp21.1 X 31679437C> G null E Q 2604 2604 missense 0.015 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863225009 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679430C> T null W * 2606 2606 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201020 A0A075B6G3 DMD Dystrophin Ensembl rs398124056 Xp21.1 X 31679429C> T null W * 2606 2606 stop gained 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs72466581 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679427T> A null K M 2607 2607 missense 0.103 benign 0.11 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001085652 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502649 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679421C> T null G D 2609 2609 missense 0.038 benign 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000464384 A0A075B6G3 DMD Dystrophin Ensembl rs1569220404 Xp21.1 X 31679418G> C null P R 2610 2610 missense 0.894 possibly damaging 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs760375931 Xp21.1 X 31679412G> A null T I 2612 2612 missense 0.271 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569220368 Xp21.1 X 31679409A> G null V A 2613 2613 missense 0.0 benign 0.42 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs748974113 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679406T> C null D G 2614 2614 missense 0.455 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000688788 A0A075B6G3 DMD Dystrophin gnomAD rs1292143725 Xp21.1 X 31679403G> A null A V 2615 2615 missense 0.009 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs972664841 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31679394T> C null K R 2618 2618 missense 0.015 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603445283 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31679392du p null I null 2620 2620 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990613 A0A075B6G3 DMD Dystrophin gnomAD rs1211986600 Xp21.1 X 31679389T> A null I F 2620 2620 missense 0.642 possibly damaging 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1437840142 Xp21.1 X 31658143T> C null Q R 2625 2625 missense 0.003 benign 0.35 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775555418 Xp21.1 X 31658140A> G null L S 2626 2626 missense 0.886 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772132098 Xp21.1 X 31658138C> T null A T 2627 2627 missense 0.02 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1388762712 Xp21.1 X 31658130G> C null D E 2629 2629 missense 0.007 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs746092688 Xp21.1 X 31658131T> A null D V 2629 2629 missense 0.795 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774507269 Xp21.1 X 31658129G> C null L V 2630 2630 missense 0.82 possibly damaging 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs769601403 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31658126G> A null R C 2631 2631 missense 0.54 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP,gnomAD rs748007790 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31658125C> T null R H 2631 2631 missense 0.0 benign 0.39 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000459837 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124058 Xp21.1 X 31658123G> A null Q * 2632 2632 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556790316 Xp21.1 X 31658118C> T null W * 2633 2633 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1172815730 Xp21.1 X 31658111T> C null N D 2636 2636 missense 0.038 benign 0.63 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs781227857 Xp21.1 X 31658108C> T null V I 2637 2637 missense 0.233 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs754997935 Xp21.1 X 31658103A> T null D E 2638 2638 missense 0.155 benign 0.69 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs146020545 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31658098G> C null A G 2640 2640 missense 0.396 benign 0.05 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000527970 A0A075B6G3 DMD Dystrophin dbSNP rs398124059 Xp21.1 X 31658097de l null N null 2641 2641 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed rs976782785 Xp21.1 X 31658095T> C null N S 2641 2641 missense 0.674 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs976782785 Xp21.1 X 31658095T> G null N T 2641 2641 missense 0.979 probably damaging 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569186667 Xp21.1 X 31658087C> A null A S 2644 2644 missense 0.155 benign 0.68 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1015097529 NCI-TCGA Cosmic [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:435 Xp21.1 X 31658072G> A null R W 2649 2649 missense 0.992 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs779628825 Xp21.1 X 31658068T> C null D G 2650 2650 missense 0.987 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs374433647 Xp21.1 X 31658055A> T null D E 2654 2654 missense 0.873 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1194637880 Xp21.1 X 31658052A> T null D E 2655 2655 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569186515 Xp21.1 X 31658050G> T null T N 2656 2656 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1235798897 Xp21.1 X 31658038T> C null H R 2660 2660 missense 0.023 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs757616080 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 Xp21.1 X 31658039G> A null H Y 2660 2660 missense 0.095 benign 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761188998 Xp21.1 X 31658034C> T null M I 2661 2661 missense 0.205 benign 0.19 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1455414664 Xp21.1 X 31658035A> T null M K 2661 2661 missense 0.268 benign 0.24 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764521635 Xp21.1 X 31658036T> A null M L 2661 2661 missense 0.005 benign 0.72 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764521635 Xp21.1 X 31658036T> C null M V 2661 2661 missense 0.205 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs952194804 Xp21.1 X 31658031T> C null I M 2662 2662 missense 0.015 benign 0.44 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs144103124 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31658029G> C null T R 2663 2663 missense 0.676 possibly damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001086337 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1402602960 Xp21.1 X 31658025C> A null E D 2664 2664 missense 0.005 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs767634310 Xp21.1 X 31658024T> C null N D 2665 2665 missense 0.003 benign 0.38 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,dbSNP,gnomAD rs371437381 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31658017T> C null N S 2667 2667 missense 0.062 benign 0.07 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001245262 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs371437381 Xp21.1 X 31658017T> G null N T 2667 2667 missense 0.109 benign 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569186252 cosmic curated [ClinVar]: Dystrophinopathies, [Cosmic]: endometrium cosmic_study:419 Xp21.1 X 31658007C> T null W * 2670 2670 missense 1 Dystrophinopathies The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). pubmed:20301298,ClinVar:RCV001192551 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs139254609 Xp21.1 X 31658006T> C null R G 2671 2671 missense 0.0 benign 0.29 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771081514 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31658002C> T null S N 2672 2672 missense 0.001 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001245098 A0A075B6G3 DMD Dystrophin gnomAD rs942124280 Xp21.1 X 31627857C> T null S N 2678 2678 missense 0.003 benign 0.46 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs863225011 [ClinVar]: Dystrophinopathies, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627852G> A null R * 2680 2680 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201174 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs863225011 [ClinVar]: Dystrophinopathies, [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627852G> A null R * 2680 2680 stop gained 0 Dystrophinopathies The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). pubmed:20301298,ClinVar:RCV001192549 A0A075B6G3 DMD Dystrophin gnomAD rs863225011 Xp21.1 X 31627852G> C null R G 2680 2680 missense 0.85 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778303577 Xp21.1 X 31627851C> A null R L 2680 2680 missense 0.8 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778303577 Xp21.1 X 31627851C> T null R Q 2680 2680 missense 0.173 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs748937055 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Conduction disorder of the heart Xp21.1 X 31627837C> T null E K 2685 2685 missense 0.909 probably damaging 0.0 deleterious 0 Conduction disorder of the heart MIM:115080 ClinVar:RCV001256881 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs748937055 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Conduction disorder of the heart Xp21.1 X 31627837C> T null E K 2685 2685 missense 0.909 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000701669 A0A075B6G3 DMD Dystrophin Ensembl rs1569140347 Xp21.1 X 31627834C> G null E Q 2686 2686 missense 0.026 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777445572 Xp21.1 X 31627830G> A null T I 2687 2687 missense 0.001 benign 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs398124060 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627826_31627827de l null H null 2688 2688 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001224748 A0A075B6G3 DMD Dystrophin dbSNP rs1569140330 Xp21.1 X 31627829de l null H null 2688 2688 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1017255301 Xp21.1 X 31627827T> C null H R 2688 2688 missense 0.003 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556764934 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627822_31627826de l null R null 2689 2689 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000597787 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756450108 Xp21.1 X 31627824C> T null R K 2689 2689 missense 0.0 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124061 Xp21.1 X 31627821A> C null L * 2690 2690 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs748485762 Xp21.1 X 31627818A> G null L P 2691 2691 missense 0.809 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556764922 Xp21.1 X 31627813G> A null Q * 2693 2693 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs755445214 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627807G> A null P S 2695 2695 missense 0.236 benign 0.36 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001080147 A0A075B6G3 DMD Dystrophin dbSNP rs1556764880 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627783_31627799de l null E null 2699 2699 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630503 A0A075B6G3 DMD Dystrophin gnomAD rs1346734524 Xp21.1 X 31627785A> G null L P 2702 2702 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs886042373 Xp21.1 X 31627779_31627785du p null W null 2704 2704 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl rs948590366 Xp21.1 X 31627780A> G null W R 2704 2704 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042118 Xp21.1 X 31627764T> G null E A 2709 2709 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs751599201 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627755G> C null A G 2712 2712 missense 0.921 probably damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000798429 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs766553671 Xp21.1 X 31627753T> C null N D 2713 2713 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs758633794 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627752T> C null N S 2713 2713 7.95E-4 missense 0.96 probably damaging 0.11 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990609 A0A075B6G3 DMD Dystrophin TOPMed rs1231632354 Xp21.1 X 31627750C> T null V I 2714 2714 missense 0.121 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603430181 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627745du p null Q null 2716 2716 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990608 A0A075B6G3 DMD Dystrophin dbSNP rs1603430178 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627744G> A null Q * 2716 2716 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990607 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs750640802 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627743T> C null Q R 2716 2716 missense 0.775 possibly damaging 0.33 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001079559 A0A075B6G3 DMD Dystrophin Ensembl rs886043271 Xp21.1 X 31627740T> G null D A 2717 2717 missense 0.682 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043271 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627740T> C null D G 2717 2717 missense 0.682 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630543 A0A075B6G3 DMD Dystrophin Ensembl rs886043271 Xp21.1 X 31627740T> A null D V 2717 2717 missense 0.862 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs375657730 Xp21.1 X 31627732G> A null R C 2720 2720 missense 0.466 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs760495223 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627731C> T null R H 2720 2720 missense 0.0 benign 0.82 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000468637 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs760495223 Xp21.1 X 31627731C> G null R P 2720 2720 missense 0.164 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1452352386 Xp21.1 X 31627726C> T null E K 2722 2722 missense 0.841 possibly damaging 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569139778 Xp21.1 X 31627721C> G null R S 2723 2723 missense 0.015 benign 0.77 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs775175731 Xp21.1 X 31627710T> G null D A 2727 2727 missense 0.714 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs794727763 Xp21.1 X 31627707de l null K null 2729 2729 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1292658885 Xp21.1 X 31627699C> T null V I 2731 2731 missense 0.079 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556764753 Xp21.1 X 31627697de l null E null 2733 2733 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556764743 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.1 X 31627693C> A null E * 2733 2733 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1219165101 Xp21.1 X 31627692T> C null E G 2733 2733 missense 0.755 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502621 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627681G> A null Q * 2737 2737 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000477000 A0A075B6G3 DMD Dystrophin gnomAD rs1286879381 Xp21.1 X 31627680T> C null Q R 2737 2737 missense 0.183 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs372600090 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31627678A> G null W R 2738 2738 missense 0.879 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000553196 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771051897 Xp21.1 X 31507452T> C null D G 2740 2740 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747449031 Xp21.1 X 31507450G> C null L V 2741 2741 missense 0.591 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1359691596 Xp21.1 X 31507444C> A null G C 2743 2743 missense 0.831 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,TOPMed,dbSNP,gnomAD rs367735348 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31507437A> G null I T 2745 2745 missense 0.159 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630571 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs745873218 Xp21.1 X 31507431G> C null A G 2747 2747 missense 0.067 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs772732788 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31507432C> T null A T 2747 2747 missense 0.105 benign 0.06 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000472076 A0A075B6G3 DMD Dystrophin dbSNP rs745873218 Xp21.1 X 31507431G> A null A V 2747 2747 missense 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs149268097 Xp21.1 X 31507426T> C null T A 2749 2749 missense 0.774 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs373832446 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31507416T> C null Y C 2752 2752 missense 0.919 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001079634 A0A075B6G3 DMD Dystrophin Ensembl rs1569547997 Xp21.1 X 31507413T> C null H R 2753 2753 missense 0.171 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556669914 Xp21.1 X 31507409de l null L null 2755 2755 frameshift 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs201996040 Xp21.1 X 31507401T> C null E G 2757 2757 missense 0.007 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs1298733875 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31507398T> A null N I 2758 2758 missense 0.94 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000702100 A0A075B6G3 DMD Dystrophin TOPMed rs1313625417 Xp21.1 X 31507394G> T null S R 2759 2759 missense 0.0 benign 0.7 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603280796 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31507393G> A null Q * 2760 2760 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990606 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs754683750 Xp21.1 X 31507392T> C null Q R 2760 2760 missense 0.879 possibly damaging 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1050053654 Xp21.1 X 31507387T> C null I V 2762 2762 missense 0.003 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1314658289 Xp21.1 X 31507383A> G null L P 2763 2763 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1305646898 Xp21.1 X 31507377G> A null S F 2765 2765 missense 0.575 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603280745 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31507372C> A null E * 2767 2767 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990605 A0A075B6G3 DMD Dystrophin Ensembl rs1569547987 Xp21.1 X 31507366A> G null S P 2769 2769 missense 0.618 possibly damaging 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138399787 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31507363C> T null D N 2770 2770 0.001325 missense 0.521 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000473094 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs376720228 Xp21.1 X 31507359T> G null D A 2771 2771 missense 0.279 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs758105917 Xp21.1 X 31507356G> A null A V 2772 2772 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs750419527 Xp21.1 X 31507350A> C null L R 2774 2774 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1361561522 Xp21.1 X 31507351G> C null L V 2774 2774 missense 0.525 possibly damaging 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1363319230 Xp21.1 X 31507347A> C null L * 2775 2775 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603280686 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31507345de l null Q null 2776 2776 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990604 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA rs368974772 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31507339G> A null R C 2778 2778 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs768376835 Xp21.1 X 31507335A> G null L S 2779 2779 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1475495557 Xp21.1 X 31507333C> T null D N 2780 2780 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs200729967 Xp21.1 X 31507328G> C null N K 2781 2781 missense 0.06 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs760903823 Xp21.1 X 31507323T> C null N S 2783 2783 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775998762 cosmic curated [Cosmic]: endometrium cosmic_study:419 Xp21.1 X 31507321A> G null F L 2784 2784 missense 0.007 benign 1.0 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775998762 Xp21.1 X 31507321A> C null F V 2784 2784 missense 0.012 benign 0.36 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs398124068 Xp21.1 X 31507313C> T null W * 2786 2786 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863225012 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31507314C> T null W * 2786 2786 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201027 A0A075B6G3 DMD Dystrophin Ensembl rs1569547975 Xp21.1 X 31507311C> G null S T 2787 2787 missense 0.003 benign 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603280598 Xp21.1 X 31507309C> A null E * 2788 2788 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs398124069 Xp21.1 X 31507303G> C null R G 2790 2790 missense 0.298 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs398124069 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:414 Xp21.1 X 31507303G> A null R W 2790 2790 missense 0.828 possibly damaging 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001245575 A0A075B6G3 DMD Dystrophin dbSNP rs398124070 Xp21.1 X 31507299_31507300de l null K null 2792 2792 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs794727766 Xp21.1 X 31507297T> C null K E 2792 2792 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC rs770897689 Xp21.1 X 31507293G> C null S C 2793 2793 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1259664799 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.1 X 31507291G> A null L F 2794 2794 missense 0.66 possibly damaging 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603280511 [ClinVar]: Duchenne muscular dystrophy Xp21.1 X 31507281C> T null R K 2797 2797 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000796066 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs398124071 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31496936A> G null L S 2800 2800 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630546 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774676896 Xp21.2 X 31496927C> A null S I 2803 2803 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603264705 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31496918de l null Q null 2806 2806 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990602 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs953271494 Xp21.2 X 31496917C> G null Q H 2806 2806 missense 0.099 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs183999778 Xp21.2 X 31496918T> C null Q R 2806 2806 2.65E-4 missense 0.044 benign 0.79 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs143389016 Xp21.2 X 31496910G> A null R C 2809 2809 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs778331600 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31496909C> T null R H 2809 2809 missense 0.761 possibly damaging 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001227516 A0A075B6G3 DMD Dystrophin ExAC,TOPMed rs769825390 Xp21.2 X 31496901G> A null L F 2812 2812 missense 0.726 possibly damaging 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124072 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31496892G> A null Q * 2815 2815 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201168 A0A075B6G3 DMD Dystrophin dbSNP rs1603264659 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31496885de l null L null 2818 2818 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990601 A0A075B6G3 DMD Dystrophin dbSNP rs1603264641 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31496875C> T null W * 2820 2820 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990600 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886039785 cosmic curated [ClinVar]: Duchenne muscular dystrophy, [Cosmic]: lung pubmed:23856246,cosmic_study:504 Xp21.2 X 31496876C> T null W * 2820 2820 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000256452 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs398124073 Xp21.2 X 31496871G> A null Q * 2822 2822 stop gained 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,gnomAD rs398124073 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31496871G> T null Q K 2822 2822 missense 0.185 benign 0.24 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs893710763 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31496862C> T null D N 2825 2825 missense 0.007 benign 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778675531 Xp21.2 X 31496859C> G null D H 2826 2826 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs757219404 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 Xp21.2 X 31496846C> T null R Q 2830 2830 missense 0.007 benign 0.52 tolerated 1 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569547242 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver pubmed:22561517,cosmic_study:396 Xp21.2 X 31496847G> A null R W 2830 2830 missense 0.742 possibly damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753225356 Xp21.2 X 31496844G> T null Q K 2831 2831 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1282423103 Xp21.2 X 31496843T> C null Q R 2831 2831 missense 0.999 probably damaging 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763643582 Xp21.2 X 31496834A> G null I T 2834 2834 missense 0.166 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1455291550 Xp21.2 X 31496829C> T null G S 2836 2836 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs965718917 [ClinVar]: Dilated cardiomyopathy 3B Xp21.2 X 31496826C> T null D N 2837 2837 missense 0.884 possibly damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000268291 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs748705603 Xp21.2 X 31496820G> C null P A 2839 2839 2.65E-4 missense 0.028 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes rs779091494 Xp21.2 X 31496819G> A null P L 2839 2839 2.65E-4 missense 0.571 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1339181996 Xp21.2 X 31496813A> G null V A 2841 2841 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569547229 Xp21.2 X 31496811G> A null Q * 2842 2842 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1281466006 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31496809C> G null Q H 2842 2842 missense 0.993 probably damaging 0.05 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000798412 A0A075B6G3 DMD Dystrophin gnomAD rs887532907 Xp21.2 X 31496803C> G null Q H 2844 2844 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1302775057 Xp21.2 X 31496800G> C null N K 2845 2845 missense 0.106 benign 0.29 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759943330 Xp21.2 X 31496801T> C null N S 2845 2845 missense 0.003 benign 0.4 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs753351870 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31496799C> T null D N 2846 2846 missense 0.091 benign 0.27 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs753351870 Xp21.2 X 31496799C> A null D Y 2846 2846 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs146890210 Xp21.2 X 31496792T> C null H R 2848 2848 missense 0.713 possibly damaging 0.48 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1267267091 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 Xp21.2 X 31496790T> C null R G 2849 2849 missense 0.774 possibly damaging 0.01 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs766763583 Xp21.2 X 31479097T> G null K Q 2852 2852 missense 0.122 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763269013 Xp21.2 X 31479096T> C null K R 2852 2852 missense 0.007 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs765753641 Xp21.2 X 31479087A> G null L S 2855 2855 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603226023 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31479085de l null T null 2857 2857 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990599 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556656851 Xp21.2 X 31479076C> A null E * 2859 2859 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556656847 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31479073de l null P null 2860 2860 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630497 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs72466569 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31479072G> T null P H 2860 2860 missense 0.045 benign 0.73 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs72466569 Xp21.2 X 31479072G> A null P L 2860 2860 missense 0.007 benign 0.65 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs181284440 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31479069A> G null V A 2861 2861 2.65E-4 missense 0.321 benign 0.33 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000866461 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs768803843 Xp21.2 X 31479070C> T null V I 2861 2861 missense 0.661 possibly damaging 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1442972247 Xp21.2 X 31479058T> C null T A 2865 2865 missense 0.012 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556656818 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31479047du p null V null 2869 2869 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000545797 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs398124074 cosmic curated [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 Xp21.2 X 31479043G> A null R * 2870 2870 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000179204 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs373481995 Xp21.2 X 31479042C> G null R P 2870 2870 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs373481995 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31479042C> T null R Q 2870 2870 missense 0.345 benign 0.07 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001038456 A0A075B6G3 DMD Dystrophin gnomAD rs1216840812 Xp21.2 X 31479027T> C null E G 2875 2875 missense 0.447 possibly damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs777817144 Xp21.2 X 31479023C> G null Q H 2876 2876 missense 0.914 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1282245736 Xp21.2 X 31479019A> T null L M 2878 2878 missense 0.847 possibly damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769863377 Xp21.2 X 31479009A> T null L Q 2881 2881 missense 0.394 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556656767 Xp21.2 X 31479004T> A null K * 2883 2883 stop gained 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs368876795 Xp21.2 X 31479000A> G null L P 2884 2884 missense 0.02 benign 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs398124075 Xp21.2 X 31478998_31478999AG[1 ] null Y null 2885 2885 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569546174 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478996G> T null Y * 2885 2885 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000700569 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201361100 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478995G> A null Q * 2886 2886 2.65E-4 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000179209 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201361100 Xp21.2 X 31478995G> C null Q E 2886 2886 2.65E-4 missense 0.647 possibly damaging 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs112944659 Xp21.2 X 31478991T> C null E G 2887 2887 missense 0.347 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1283332612 Xp21.2 X 31478985C> T null R K 2889 2889 missense 0.073 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs398124076 Xp21.2 X 31478983C> T null E K 2890 2890 missense 0.947 probably damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556656487 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478369de l null P null 2892 2892 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000544453 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs779715136 Xp21.2 X 31478369G> A null P S 2892 2892 missense 0.009 benign 0.74 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs756160145 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478366G> A null P S 2893 2893 missense 0.897 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001088292 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs727503802 Xp21.2 X 31478363C> A null E * 2894 2894 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556656456 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478361du p null E null 2895 2895 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630501 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1165688931 Xp21.2 X 31478356C> T null R K 2896 2896 missense 0.001 benign 0.55 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556656447 Xp21.2 X 31478350T> C null Q R 2898 2898 missense 0.018 benign 0.39 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs757682164 Xp21.2 X 31478346A> T null N K 2899 2899 missense 0.0 benign 0.45 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1363556920 Xp21.2 X 31478345C> T null V I 2900 2900 missense 0.026 benign 0.93 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs754308757 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478338C> T null R Q 2902 2902 missense 0.951 probably damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000795661 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1188233243 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31478339G> A null R W 2902 2902 missense 0.998 probably damaging 0.0 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV001027929 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1188233243 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31478339G> A null R W 2902 2902 missense 0.998 probably damaging 0.0 deleterious 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV001027929 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1188233243 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31478339G> A null R W 2902 2902 missense 0.998 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001027929,ClinVar:RCV001035307 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1188233243 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31478339G> A null R W 2902 2902 missense 0.998 probably damaging 0.0 deleterious 0 Dystrophin deficiency ClinVar:RCV001027929 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1040153805 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478336G> A null L F 2903 2903 missense 0.562 possibly damaging 0.09 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990596 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP rs128627256 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:15643612 Xp21.2 X 31478330G> A null R * 2905 2905 stop gained 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000515392 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP rs128627256 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:15643612 Xp21.2 X 31478330G> A null R * 2905 2905 stop gained 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000515392 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP rs128627256 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:15643612 Xp21.2 X 31478330G> A null R * 2905 2905 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012040,ClinVar:RCV000515392 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA rs267606433 NCI-TCGA Cosmic [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22842228,cosmic_study:511 Xp21.2 X 31478329C> T null R Q 2905 2905 missense 0.177 benign 0.15 tolerated 1 A0A075B6G3 DMD Dystrophin gnomAD rs1487477401 Xp21.2 X 31478326T> G null K T 2906 2906 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1377163339 Xp21.2 X 31478315C> T null E K 2910 2910 missense 0.757 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41305353 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy pubmed:25333069,pubmed:7881286 Xp21.2 X 31478314T> A null E V 2910 2910 0.03576 missense 0.611 possibly damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000322171 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41305353 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy pubmed:25333069,pubmed:7881286 Xp21.2 X 31478314T> A null E V 2910 2910 0.03576 missense 0.611 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012018 A0A075B6G3 DMD Dystrophin dbSNP rs1603223025 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478313de l null V null 2911 2911 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990595 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800278 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy pubmed:25333069,pubmed:7881286 Xp21.2 X 31478309T> C null N D 2912 2912 0.03709 missense 0.001 benign 0.14 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000264708 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800278 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy pubmed:25333069,pubmed:7881286 Xp21.2 X 31478309T> C null N D 2912 2912 0.03709 missense 0.001 benign 0.14 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012019 A0A075B6G3 DMD Dystrophin gnomAD rs1227226131 Xp21.2 X 31478308T> C null N S 2912 2912 missense 0.0 benign 0.21 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs919154221 Xp21.2 X 31478305G> C null T S 2913 2913 missense 0.001 benign 0.47 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556656366 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31478303C> G null E Q 2914 2914 missense 0.003 benign 0.13 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000547396 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs148950131 Xp21.2 X 31478302T> A null E V 2914 2914 missense 0.12 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603222922 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478299C> T null W * 2915 2915 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990594 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761750882 Xp21.2 X 31478298C> A null W C 2915 2915 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603222897 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478299de l null E null 2916 2916 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990593 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs776660039 Xp21.2 X 31478290A> C null L W 2918 2918 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603222841 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478288T> A null N Y 2919 2919 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000804570 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800279 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy pubmed:25333069,pubmed:7881286 Xp21.2 X 31478281T> C null H R 2921 2921 0.01483 missense 0.001 benign 0.61 tolerated 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000012020 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800279 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy pubmed:25333069,pubmed:7881286 Xp21.2 X 31478281T> C null H R 2921 2921 0.01483 missense 0.001 benign 0.61 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000355558 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800279 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy pubmed:25333069,pubmed:7881286 Xp21.2 X 31478281T> C null H R 2921 2921 0.01483 missense 0.001 benign 0.61 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000458193 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1171983817 Xp21.2 X 31478275G> C null A G 2923 2923 missense 0.005 benign 0.49 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116283249 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478276C> A null A S 2923 2923 7.95E-4 missense 0.013 benign 0.65 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001167231 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116283249 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478276C> A null A S 2923 2923 7.95E-4 missense 0.013 benign 0.65 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001087138 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116283249 Xp21.2 X 31478276C> T null A T 2923 2923 7.95E-4 missense 0.001 benign 0.38 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1171983817 Xp21.2 X 31478275G> A null A V 2923 2923 missense 0.005 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs868688877 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478268C> T null W * 2925 2925 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000810778 A0A075B6G3 DMD Dystrophin Ensembl rs868688877 Xp21.2 X 31478268C> A null W C 2925 2925 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC rs757592525 Xp21.2 X 31478270A> G null W R 2925 2925 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1432714005 Xp21.2 X 31478265C> G null Q H 2926 2926 missense 0.924 probably damaging 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749687470 Xp21.2 X 31478264T> C null R G 2927 2927 missense 0.199 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556656298 Xp21.2 X 31478261T> A null K * 2928 2928 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed rs1181907562 Xp21.2 X 31478257A> G null I T 2929 2929 missense 0.419 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs980919804 Xp21.2 X 31478254T> A null D V 2930 2930 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603222574 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478248de l null E null 2934 2934 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990592 A0A075B6G3 DMD Dystrophin dbSNP rs1603222556 [ClinVar]: Dilated cardiomyopathy 3B Xp21.2 X 31478243C> A null E * 2934 2934 stop gained 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000850233 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs146517753 Xp21.2 X 31478237G> A null L F 2936 2936 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs146517753 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478237G> T null L I 2936 2936 missense 0.648 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000684913 A0A075B6G3 DMD Dystrophin dbSNP rs1800280 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31478233 = null R = 2937 2937 missense 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000576762 A0A075B6G3 DMD Dystrophin dbSNP rs1800280 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31478233 = null R = 2937 2937 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000206630,ClinVar:RCV000576762 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800280 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478233C> T null R Q 2937 2937 0.1181 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990591 A0A075B6G3 DMD Dystrophin gnomAD rs1485865813 Xp21.2 X 31478230T> A null E V 2938 2938 missense 0.091 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603222424 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478227de l null Q null 2940 2940 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990590 A0A075B6G3 DMD Dystrophin TOPMed rs1372401429 cosmic curated [Cosmic]: kidney cosmic_study:416 Xp21.2 X 31478224T> G null Q P 2940 2940 missense 0.991 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs755127162 Xp21.2 X 31478219C> G null A P 2942 2942 missense 0.862 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs755127162 Xp21.2 X 31478219C> A null A S 2942 2942 missense 0.266 benign 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP,gnomAD rs751810893 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31478215G> A null T M 2943 2943 missense 0.0 benign 1.0 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000807836 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761658825 Xp21.2 X 31478212T> C null D G 2944 2944 missense 0.011 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs201257027 Xp21.2 X 31478200A> G null L P 2948 2948 missense 0.373 benign 0.2 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs760516307 NCI-TCGA Cosmic [ClinVar]: Left ventricular noncompaction cardiomyopathy, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.2 X 31478192G> A null R C 2951 2951 missense 0.54 possibly damaging 0.0 deleterious 1 Left ventricular noncompaction cardiomyopathy ClinVar:RCV000208509 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs72466567 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31478191C> T null R H 2951 2951 missense 0.001 benign 0.27 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001089143 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs745428533 Xp21.2 X 31478187T> G null Q H 2952 2952 missense 0.146 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs773941387 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478185G> T null A D 2953 2953 missense 0.991 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000692788 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770578176 Xp21.2 X 31478182T> A null E V 2954 2954 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1032522152 Xp21.2 X 31478177T> G null I L 2956 2956 missense 0.003 benign 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes rs201123444 Xp21.2 X 31478175G> C null I M 2956 2956 missense 0.041 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs775546982 Xp21.2 X 31478168A> T null S T 2959 2959 missense 0.099 benign 0.53 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556656184 Xp21.2 X 31478163C> T null W * 2960 2960 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603222095 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478162G> A null Q * 2961 2961 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000797650 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,gnomAD rs151087470 Xp21.2 X 31478158G> A null P L 2962 2962 5.3E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1057515867 [ClinVar]: Dilated cardiomyopathy 3B Xp21.2 X 31478155A> G null V A 2963 2963 missense 0.999 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000298326 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs756567967 NCI-TCGA Cosmic [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23103869,cosmic_study:328,cosmic_study:436 Xp21.2 X 31478156C> T null V M 2963 2963 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin ESP,TOPMed,dbSNP,gnomAD rs368114420 Xp21.2 X 31478153C> A null G C 2964 2964 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs781748062 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478148A> T null D E 2965 2965 missense 1.0 probably damaging 0.18 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000526573 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP,gnomAD rs398124077 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp21.2 X 31478150C> T null D N 2965 2965 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs755061434 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478140A> G null I T 2968 2968 missense 0.967 probably damaging 0.02 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000807137 A0A075B6G3 DMD Dystrophin gnomAD rs1198387796 Xp21.2 X 31478138C> T null D N 2969 2969 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751718742 Xp21.2 X 31478135A> G null S P 2970 2970 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751718742 Xp21.2 X 31478135A> T null S T 2970 2970 missense 0.756 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398124078 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478131_31478132AG[2 ] null L null 2971 2971 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000807954 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502633 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478129G> A null Q * 2972 2972 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000470018 A0A075B6G3 DMD Dystrophin gnomAD rs1217250143 Xp21.2 X 31478126C> T null D N 2973 2973 missense 0.894 possibly damaging 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603221854 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31478121de l null L null 2975 2975 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990589 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs142128738 cosmic curated [ClinVar]: Dilated cardiomyopathy 3B, [Cosmic]: breast, [ClinVar]: Duchenne muscular dystrophy pubmed:22722201,cosmic_study:385 Xp21.2 X 31478117C> T null E K 2976 2976 missense 0.819 possibly damaging 0.03 deleterious 1 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165646 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs142128738 cosmic curated [ClinVar]: Dilated cardiomyopathy 3B, [Cosmic]: breast, [ClinVar]: Duchenne muscular dystrophy pubmed:22722201,cosmic_study:385 Xp21.2 X 31478117C> T null E K 2976 2976 missense 0.819 possibly damaging 0.03 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000792624 A0A075B6G3 DMD Dystrophin gnomAD rs1234431569 Xp21.2 X 31478114T> C null K E 2977 2977 missense 0.938 probably damaging 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569542830 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31444623A> G null L P 2981 2981 missense 0.891 possibly damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000689703 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs128625229 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:1549596 Xp21.2 X 31444621G> A null R * 2982 2982 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011962 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs750579766 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31444620C> T null R Q 2982 2982 missense 0.101 benign 0.48 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000871340 A0A075B6G3 DMD Dystrophin gnomAD rs1364568884 Xp21.2 X 31444617C> T null G E 2983 2983 missense 0.003 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1036865168 Xp21.2 X 31444611A> G null I T 2985 2985 missense 0.038 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs779243391 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:419,cosmic_study:452 Xp21.2 X 31444608G> A null A V 2986 2986 missense 0.107 benign 0.13 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC rs752565756 Xp21.2 X 31444606G> A null P S 2987 2987 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs863225014 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31444595_31444596CT[1 ] null N null 2991 2991 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201162 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs772306909 Xp21.2 X 31444592G> C null N K 2991 2991 7.95E-4 missense 0.065 benign 0.71 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs201691420 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31444591C> T null V M 2992 2992 missense 0.971 probably damaging 0.0 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165645 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs201691420 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31444591C> T null V M 2992 2992 missense 0.971 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630589 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148643665 cosmic curated [ClinVar]: Duchenne muscular dystrophy, [Cosmic]: lung pubmed:22980975,cosmic_study:431 Xp21.2 X 31444582C> T null V I 2995 2995 2.65E-4 missense 0.03 benign 0.05 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000541472 A0A075B6G3 DMD Dystrophin gnomAD rs1246884972 Xp21.2 X 31444578T> C null N S 2996 2996 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1305464439 Xp21.2 X 31444573G> C null L V 2998 2998 missense 0.604 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602938385 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31444574de l null A null 2999 2999 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000824531 A0A075B6G3 DMD Dystrophin Ensembl rs547060534 Xp21.2 X 31444570C> G null A P 2999 2999 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs762577093 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Familial restrictive cardiomyopathy Xp21.2 X 31444569G> A null A V 2999 2999 missense 0.925 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000823007 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs762577093 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Familial restrictive cardiomyopathy Xp21.2 X 31444569G> A null A V 2999 2999 missense 0.925 probably damaging 0.0 deleterious 0 Familial restrictive cardiomyopathy (RCM) Familial restrictive cardiomyopathy is a genetic form of heart disease. MIM:PS115210 pubmed:21810866,ClinVar:RCV000853172 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs772695216 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 Xp21.2 X 31444566C> T null R H 3000 3000 missense 0.001 benign 0.33 tolerated 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769519777 Xp21.2 X 31444557G> A null T I 3003 3003 missense 0.257 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC rs762014187 Xp21.2 X 31444555T> A null T S 3004 3004 missense 0.03 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1426562530 Xp21.2 X 31444548C> T null G D 3006 3006 missense 0.005 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602937974 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31444543G> A null Q * 3008 3008 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990587 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs143925896 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31444533G> A null P L 3011 3011 missense 0.111 benign 0.34 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630569 A0A075B6G3 DMD Dystrophin Ensembl rs868854363 Xp21.2 X 31444534G> A null P S 3011 3011 missense 0.079 benign 0.99 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs868854363 Xp21.2 X 31444534G> T null P T 3011 3011 missense 0.559 possibly damaging 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602937725 Xp21.2 X 31444528_31444535de l null Y null 3012 3012 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556641290 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31444526du p null L null 3014 3014 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000469225 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs780747093 Xp21.2 X 31444525G> A null L F 3014 3014 missense 0.019 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs368098624 Xp21.2 X 31444518G> C null T S 3016 3016 missense 0.003 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1329387146 Xp21.2 X 31444501T> C null T A 3022 3022 missense 0.023 benign 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs757517457 Xp21.2 X 31444490C> G null K N 3025 3025 missense 0.38 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs745982132 Xp21.2 X 31444492T> G null K Q 3025 3025 missense 0.682 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs778961643 Xp21.2 X 31444491T> C null K R 3025 3025 missense 0.065 benign 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749533073 Xp21.2 X 31444489G> A null L F 3026 3026 missense 0.477 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs754807865 Xp21.2 X 31444482T> C null Q R 3028 3028 missense 0.162 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602056443 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31348633_31348634ins T null V null 3029 3029 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990586 A0A075B6G3 DMD Dystrophin gnomAD rs1313179771 Xp21.2 X 31348634C> G null V L 3029 3029 missense 0.015 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1415768930 Xp21.2 X 31348630G> A null A V 3030 3030 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs143426249 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31348628C> T null V I 3031 3031 missense 0.01 benign 0.71 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001083583 A0A075B6G3 DMD Dystrophin dbSNP rs72466562 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31348625C> A null E * 3032 3032 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000805318 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs72466562 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31348625C> T null E K 3032 3032 missense 0.863 possibly damaging 0.18 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000697653 A0A075B6G3 DMD Dystrophin gnomAD rs1312697449 Xp21.2 X 31348620G> C null D E 3033 3033 missense 0.017 benign 0.96 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569530432 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31348619G> A null R * 3034 3034 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000690515 A0A075B6G3 DMD Dystrophin gnomAD rs1180611119 Xp21.2 X 31348618C> A null R L 3034 3034 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1180611119 Xp21.2 X 31348618C> T null R Q 3034 3034 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602056237 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31348615A> T null V D 3035 3035 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000811548 A0A075B6G3 DMD Dystrophin gnomAD rs946146600 Xp21.2 X 31348608C> G null Q H 3037 3037 missense 0.149 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1345504909 Xp21.2 X 31348606A> T null L Q 3038 3038 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1213308971 Xp21.2 X 31348599T> A null E D 3040 3040 missense 0.873 possibly damaging 0.23 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs747185260 Xp21.2 X 31348597G> T null A D 3041 3041 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs747185260 Xp21.2 X 31348597G> A null A V 3041 3041 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398124080 Xp21.2 X 31348594de l null H null 3042 3042 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs778022972 Xp21.2 X 31348592T> C null R G 3043 3043 missense 0.996 probably damaging 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP rs754722195 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31348589C> T null D N 3044 3044 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1303381637 Xp21.2 X 31348579G> A null P L 3047 3047 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1205735753 Xp21.2 X 31348580G> A null P S 3047 3047 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1205735753 Xp21.2 X 31348580G> T null P T 3047 3047 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886039533 Xp21.2 X 31348571G> A null Q * 3050 3050 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1352900858 Xp21.2 X 31348569C> A null Q H 3050 3050 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs398124081 Xp21.2 X 31348559_31348562AAAG[1 ] null L null 3053 3053 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs398124083 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31323658G> A null T M 3055 3055 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749397250 Xp21.2 X 31323649T> A null Q L 3058 3058 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749397250 Xp21.2 X 31323649T> C null Q R 3058 3058 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569526156 Xp21.2 X 31323644de l null W null 3061 3061 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556503937 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31323639C> T null W * 3061 3061 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630551 A0A075B6G3 DMD Dystrophin dbSNP rs1601864055 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31323633_31323634TC[2 ] null R null 3063 3063 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990585 A0A075B6G3 DMD Dystrophin ExAC rs770011551 Xp21.2 X 31323627G> C null I M 3065 3065 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1287477146 Xp21.2 X 31323629T> C null I V 3065 3065 missense 0.025 benign 0.92 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs128626254 [ClinVar]: Duchenne muscular dystrophy pubmed:7951253 Xp21.2 X 31323625G> T null S * 3066 3066 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012021 A0A075B6G3 DMD Dystrophin gnomAD rs128626254 NCI-TCGA Cosmic [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung pubmed:21984974,cosmic_study:357,cosmic_study:418 Xp21.2 X 31323625G> A null S L 3066 3066 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin dbSNP rs863225015 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31323615_31323618TTTG[1 ] null N null 3068 3068 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201037 A0A075B6G3 DMD Dystrophin TOPMed rs1381014756 Xp21.2 X 31323617T> G null K Q 3069 3069 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727820 Xp21.2 X 31323606G> C null Y * 3072 3072 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs771825806 Xp21.2 X 31323604T> C null Y C 3073 3073 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs866735682 Xp21.2 X 31323605A> G null Y H 3073 3073 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603253605 Xp21.2 X 31261010du p null T null 3078 3078 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1060502624 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31261003_31261006de l null T null 3080 3080 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000464817 A0A075B6G3 DMD Dystrophin gnomAD rs1483477599 Xp21.2 X 31260989G> C null D E 3084 3084 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs776860944 Xp21.2 X 31260976T> A null T S 3089 3089 missense 0.779 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1603253563 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31260971_31260972CT[1 ] null E null 3090 3090 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990584 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759307847 Xp21.2 X 31260970G> A null L F 3091 3091 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774028068 Xp21.2 X 31260960G> C null S C 3094 3094 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749208272 Xp21.2 X 31260956T> G null L F 3095 3095 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770906691 Xp21.2 X 31260958A> T null L I 3095 3095 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794729002 Xp21.2 X 31223109T> C null N S 3100 3100 missense 0.872 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs727503800 Xp21.2 X 31223084_31223095de l null Y null 3106 3109 inframe deletion 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201718067 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31223083C> A null A S 3109 3109 2.65E-4 missense 0.709 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001086428 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773246041 Xp21.2 X 31223079A> G null M T 3110 3110 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1381984529 Xp21.2 X 31223080T> C null M V 3110 3110 missense 0.671 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124092 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31223071G> A null R * 3113 3113 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000179641 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556320083 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31223070C> T null R Q 3113 3113 missense 0.913 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000554971 A0A075B6G3 DMD Dystrophin dbSNP rs1602947628 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31223064de l null L null 3115 3115 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990583 A0A075B6G3 DMD Dystrophin gnomAD rs398124093 Xp21.2 X 31223062G> A null Q * 3116 3116 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs398124093 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.2 X 31223062G> T null Q K 3116 3116 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs200928985 [ClinVar]: Familial dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31223056C> A null A S 3118 3118 missense 0.756 possibly damaging 0.11 tolerated 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000764876 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs200928985 [ClinVar]: Familial dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31223056C> A null A S 3118 3118 missense 0.756 possibly damaging 0.11 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000764876 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs200928985 [ClinVar]: Familial dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31223056C> A null A S 3118 3118 missense 0.756 possibly damaging 0.11 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000764876,ClinVar:RCV001086344 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs200928985 [ClinVar]: Familial dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31223056C> A null A S 3118 3118 missense 0.756 possibly damaging 0.11 tolerated 0 Familial dilated cardiomyopathy (FDCM) Familial dilated cardiomyopathy is a genetic form of heart disease. MIM:PS115200 ClinVar:RCV000624887 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs200928985 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31223056C> T null A T 3118 3118 missense 0.355 benign 0.03 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001248680 A0A075B6G3 DMD Dystrophin dbSNP rs1064793644 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.2 X 31209690_31209691de l null L E 3124 3124 frameshift 0 A0A075B6G3 DMD Dystrophin gnomAD rs1263984333 Xp21.2 X 31209685G> C null L V 3126 3126 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602730254 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31209681G> T null S * 3127 3127 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990582 A0A075B6G3 DMD Dystrophin gnomAD rs1463122578 Xp21.2 X 31209676C> T null A T 3129 3129 missense 0.697 possibly damaging 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs932848232 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31209673A> C null C G 3130 3130 missense 0.595 possibly damaging 0.6 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990581 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs150462744 Xp21.2 X 31209670C> T null D N 3131 3131 missense 0.003 benign 0.57 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs200592992 Xp21.2 X 31209666G> T null A D 3132 3132 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs765186260 Xp21.2 X 31209661C> T null D N 3134 3134 missense 0.056 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs765186260 Xp21.2 X 31209661C> A null D Y 3134 3134 missense 0.67 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761654407 Xp21.2 X 31209652T> C null N D 3137 3137 missense 0.047 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC rs200715944 Xp21.2 X 31209650G> T null N K 3137 3137 2.65E-4 missense 0.052 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,dbSNP,gnomAD rs779737146 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31209651T> C null N S 3137 3137 2.65E-4 missense 0.194 benign 0.17 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000864556 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1060502628 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31209646T> G null K Q 3139 3139 missense 0.638 possibly damaging 0.04 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000459709 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760251358 Xp21.2 X 31209642T> C null Q R 3140 3140 missense 0.462 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes rs745553032 Xp21.2 X 31209636T> A null D V 3142 3142 2.65E-4 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1390453463 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp21.2 X 31209631G> A null P S 3144 3144 missense 0.015 benign 0.08 tolerated 1 A0A075B6G3 DMD Dystrophin dbSNP rs1060502648 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31209627de l null M null 3145 3145 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000457661 A0A075B6G3 DMD Dystrophin ExAC rs775080631 Xp21.2 X 31209628T> C null M V 3145 3145 missense 0.299 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1041212231 Xp21.2 X 31209615T> A null Q L 3149 3149 missense 0.582 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1317996986 Xp21.2 X 31209609A> G null I T 3151 3151 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs771716708 Xp21.2 X 31209603C> A null C F 3153 3153 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs190177232 Xp21.2 X 31209595T> C null T A 3156 3156 2.65E-4 missense 0.545 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs886039532 Xp21.2 X 31209590_31209593de l null I null 3157 3157 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602728959 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31209593de l null I null 3157 3157 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000801649 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs934841210 Xp21.2 X 31209592T> C null I V 3157 3157 missense 0.075 benign 0.33 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs779233737 Xp21.2 X 31209583G> A null R C 3160 3160 missense 0.958 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771392678 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31209582C> T null R H 3160 3160 missense 0.884 possibly damaging 0.19 tolerated 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV001165643 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs771392678 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31209582C> T null R H 3160 3160 missense 0.884 possibly damaging 0.19 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000463720 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs771392678 Xp21.2 X 31209582C> A null R L 3160 3160 missense 0.793 possibly damaging 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs778367724 Xp21.2 X 31209577C> G null E Q 3162 3162 missense 0.076 benign 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1188204021 Xp21.2 X 31209571C> G null E Q 3164 3164 missense 0.881 possibly damaging 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs752830114 Xp21.2 X 31209567T> G null H P 3165 3165 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs911738713 Xp21.2 X 31209564T> C null N S 3166 3166 missense 0.044 benign 0.6 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs781509861 Xp21.2 X 31209562T> C null N D 3167 3167 missense 0.005 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs781509861 Xp21.2 X 31209562T> G null N H 3167 3167 missense 0.836 possibly damaging 0.37 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs886039681 Xp21.2 X 31209560de l null L null 3168 3168 frameshift 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185247491 Xp21.2 X 31209557C> G null L F 3168 3168 7.95E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs987686739 Xp21.2 X 31209552T> C null N S 3170 3170 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1233921144 Xp21.2 X 31209550C> T null V I 3171 3171 missense 0.998 probably damaging 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1332708845 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31209538C> T null V M 3175 3175 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044916 Xp21.2 X 31209534T> C null D G 3176 3176 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs863225017 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31209511du p null N null 3184 3184 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201051 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs761714810 Xp21.2 X 31209511T> A null N Y 3184 3184 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556280685 Xp21.2 X 31209508C> T null V I 3185 3185 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556280638 Xp21.2 X 31209501T> C null D G 3187 3187 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1026613996 Xp21.2 X 31209498G> A null T M 3188 3188 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin NCI-TCGA,dbSNP,gnomAD rs104894797 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10909857 Xp21.2 X 31206663G> A null R * 3190 3190 stop gained 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000150055 A0A075B6G3 DMD Dystrophin NCI-TCGA,dbSNP,gnomAD rs104894797 [ClinVar]: Dilated cardiomyopathy 3B, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10909857 Xp21.2 X 31206663G> A null R * 3190 3190 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012033 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs766768395 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 Xp21.2 X 31206662C> T null R Q 3190 3190 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs751806622 Xp21.2 X 31206657C> G null G R 3192 3192 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs181517869 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31206651T> G null I L 3194 3194 2.65E-4 missense 0.499 possibly damaging 0.04 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000764875 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs181517869 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31206651T> G null I L 3194 3194 2.65E-4 missense 0.499 possibly damaging 0.04 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000764875 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs181517869 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31206651T> G null I L 3194 3194 2.65E-4 missense 0.499 possibly damaging 0.04 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000229457,ClinVar:RCV000764875 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs756958090 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 Xp21.2 X 31206647C> T null R H 3195 3195 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin Ensembl rs760526098 Xp21.2 X 31206634A> T null F L 3199 3199 missense 0.071 benign 0.54 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs377632571 Xp21.2 X 31206632T> A null K I 3200 3200 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1057524037 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31206610A> T null C * 3207 3207 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000456408 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs752696730 Xp21.2 X 31206603G> A null H Y 3210 3210 missense 0.978 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569463953 Xp21.2 X 31206597C> A null E * 3212 3212 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1341389139 Xp21.2 X 31206589C> G null K N 3214 3214 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs766981643 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31206582A> G null Y H 3217 3217 missense 0.763 possibly damaging 0.05 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000704664 A0A075B6G3 DMD Dystrophin gnomAD rs1319200626 Xp21.2 X 31204101C> A null A S 3223 3223 missense 0.946 probably damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs141504670 Xp21.2 X 31204098T> C null S G 3224 3224 missense 0.035 benign 0.51 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs755943193 Xp21.2 X 31204091G> A null T I 3226 3226 missense 0.367 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs755943193 Xp21.2 X 31204091G> T null T K 3226 3226 missense 0.161 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141392048 [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.2 X 31204086A> G null F L 3228 3228 0.002649 missense 0.069 benign 0.47 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000853036 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141392048 [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.2 X 31204086A> G null F L 3228 3228 0.002649 missense 0.069 benign 0.47 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990576 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141392048 [ClinVar]: Primary dilated cardiomyopathy, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Cardiomyopathy Xp21.2 X 31204086A> G null F L 3228 3228 0.002649 missense 0.069 benign 0.47 tolerated 0 Primary dilated cardiomyopathy (DCM) Familial dilated cardiomyopathy is a genetic form of heart disease. pubmed:16839424,pubmed:20301486,pubmed:21810866,ClinVar:RCV000148462 A0A075B6G3 DMD Dystrophin Ensembl rs398124101 Xp21.2 X 31204082C> A null C F 3229 3229 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1365241014 Xp21.2 X 31204080C> G null D H 3230 3230 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556235825 Xp21.2 X 31204077G> A null Q * 3231 3231 stop gained 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,dbSNP,gnomAD rs145030353 Xp21.2 X 31204074G> A null R C 3232 3232 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs751095907 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31204073C> T null R H 3232 3232 missense 0.998 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000707090 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs145030353 Xp21.2 X 31204074G> T null R S 3232 3232 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs912991287 Xp21.2 X 31204068G> C null L V 3234 3234 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs765865134 Xp21.2 X 31204052T> C null H R 3239 3239 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398124102 Xp21.2 X 31204053G> A null H Y 3239 3239 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762665106 Xp21.2 X 31204044T> C null I V 3242 3242 missense 0.848 possibly damaging 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569460722 Xp21.2 X 31204041G> A null Q * 3243 3243 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602669026 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31204040de l null I null 3244 3244 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990575 A0A075B6G3 DMD Dystrophin ExAC rs772783106 Xp21.2 X 31204027C> A null Q H 3247 3247 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602668870 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31204020C> T null E K 3250 3250 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990574 A0A075B6G3 DMD Dystrophin dbSNP rs398124103 Xp21.2 X 31204005du p null S null 3257 3257 frameshift 0 A0A075B6G3 DMD Dystrophin NCI-TCGA rs398124103 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xp21.2 X 31204000_31204001ins C null S Q 3257 3257 frameshift 0 A0A075B6G3 DMD Dystrophin NCI-TCGA,TOPMed,gnomAD rs796102824 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31203977C> T null R Q 3264 3264 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs373448002 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31203978G> A null R W 3264 3264 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000232308 A0A075B6G3 DMD Dystrophin TOPMed rs980324619 Xp21.2 X 31182900T> C null N S 3271 3271 missense 0.065 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs765885178 Xp21.2 X 31182897T> C null N S 3272 3272 missense 0.423 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043277 Xp21.2 X 31182892G> C null P A 3274 3274 missense 0.017 benign 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044191 Xp21.2 X 31182880C> T null A T 3278 3278 missense 0.932 probably damaging 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs775970440 Xp21.2 X 31182876G> C null A G 3279 3279 2.65E-4 missense 0.434 benign 0.09 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs398124104 Xp21.2 X 31182861C> T null W * 3284 3284 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl rs1055919221 Xp21.2 X 31182857C> T null M I 3285 3285 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs762196659 Xp21.2 X 31182855C> G null R T 3286 3286 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs938731589 Xp21.2 X 31182853G> T null L M 3287 3287 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124106 Xp21.2 X 31182850C> A null E * 3288 3288 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602455747 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182847de l null Q null 3290 3290 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990572 A0A075B6G3 DMD Dystrophin gnomAD rs1312229247 Xp21.2 X 31182842C> G null Q H 3290 3290 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP rs886042871 Xp21.2 X 31182838T> C null M V 3292 3292 missense 0.116 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1569427535 Xp21.2 X 31182832_31182833AC[3 ] null W null 3294 3294 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556046080 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182824_31182833de l null W null 3294 3294 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000545307 A0A075B6G3 DMD Dystrophin dbSNP rs1602455302 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182812_31182833de l null P null 3296 3296 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990571 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764607855 Xp21.2 X 31182826G> C null P A 3296 3296 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398124107 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182816T> C null H R 3299 3299 missense 0.995 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000705818 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs775899898 Xp21.2 X 31182813C> T null R K 3300 3300 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772169595 Xp21.2 X 31182804G> C null A G 3303 3303 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs398124108 Xp21.2 X 31182786T> C null H R 3309 3309 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs104894789 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182784G> A null Q * 3310 3310 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000535740 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044071 Xp21.2 X 31182783T> C null Q R 3310 3310 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1348920866 Xp21.2 X 31182781C> T null A T 3311 3311 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556045735 Xp21.2 X 31182776_31182779delinsAAA A null K F 3312 3312 missense 0 A0A075B6G3 DMD Dystrophin dbSNP rs886043597 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182774C> A null C F 3313 3313 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000815095 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556045698 Xp21.2 X 31182775A> T null C S 3313 3313 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043597 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182774C> T null C Y 3313 3313 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000529063 A0A075B6G3 DMD Dystrophin dbSNP rs1602454895 Xp21.2 X 31182773du p null N * 3314 3314 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863225018 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182771_31182774du p null N K 3314 3314 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201198 A0A075B6G3 DMD Dystrophin TOPMed rs1426877140 Xp21.2 X 31182770G> T null N K 3314 3314 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602454747 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182762_31182763de l null K null 3317 3317 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990570 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044217 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182757A> G null C R 3319 3319 missense 0.993 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000692409 A0A075B6G3 DMD Dystrophin dbSNP rs1602454639 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182753G> A null P L 3320 3320 missense 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990569 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1131691677 Xp21.2 X 31182754G> T null P T 3320 3320 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602454605 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31182742du p null R null 3325 3325 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990568 A0A075B6G3 DMD Dystrophin Ensembl rs398124109 Xp21.2 X 31182738C> T null R K 3325 3325 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs794727832 Xp21.2 X 31180478G> C null Y * 3326 3326 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1381431881 Xp21.2 X 31180473C> A null S I 3328 3328 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs993607011 Xp21.2 X 31180464T> C null H R 3331 3331 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756953567 Xp21.2 X 31180450T> C null I V 3336 3336 missense 0.147 benign 0.85 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs104894788 [ClinVar]: Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave pubmed:8817332 Xp21.2 X 31180437C> T null C Y 3340 3340 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave ClinVar:RCV000011987 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123827 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31180423G> A null R * 3345 3345 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000179687 A0A075B6G3 DMD Dystrophin Ensembl rs774061155 Xp21.2 X 31180420C> T null V I 3346 3346 missense 0.03 benign 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1423991647 Xp21.2 X 31180407T> C null H R 3350 3350 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs764520095 Xp21.2 X 31180408G> A null H Y 3350 3350 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569423551 [ClinVar]: Becker muscular dystrophy Xp21.2 X 31180398T> G null H P 3353 3353 missense 0.786 possibly damaging 0.01 deleterious 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000760239 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569423551 [ClinVar]: Becker muscular dystrophy Xp21.2 X 31180398T> G null H P 3353 3353 missense 0.786 possibly damaging 0.01 deleterious 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000760239 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569423551 [ClinVar]: Becker muscular dystrophy Xp21.2 X 31180398T> G null H P 3353 3353 missense 0.786 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000760239 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042875 Xp21.2 X 31180394A> T null Y * 3354 3354 stop gained 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1415360989 Xp21.2 X 31180395T> C null Y C 3354 3354 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1181271457 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31180379A> C null Y * 3359 3359 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990567 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569423459 NCI-TCGA Cosmic [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp21.2 X 31180371G> A null P L 3362 3362 missense 0.994 probably damaging 0.0 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000695204 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756461201 Xp21.2 X 31178804G> C null T S 3363 3363 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs886042840 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31178789TCT[1 ] null E null 3367 3367 inframe deletion 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000395439 A0A075B6G3 DMD Dystrophin dbSNP rs886042840 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31178789TCT[1 ] null E null 3367 3367 inframe deletion 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000312055 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs104894787 NCI-TCGA Cosmic [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:1549596,cosmic_study:375 Xp21.2 X 31178784G> A null R * 3370 3370 missense 1 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000180033 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs104894787 NCI-TCGA Cosmic [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:1549596,cosmic_study:375 Xp21.2 X 31178784G> A null R * 3370 3370 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000011964 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556037455 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31178783C> G null R P 3370 3370 missense 0.989 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000531520 A0A075B6G3 DMD Dystrophin dbSNP rs1556037429 Xp21.2 X 31178772de l null K null 3374 3374 frameshift 0 A0A075B6G3 DMD Dystrophin dbSNP rs886043676 Xp21.2 X 31178766de l null V * 3375 3376 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs767984297 Xp21.2 X 31178768A> G null V A 3375 3375 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs752102220 Xp21.2 X 31178763T> G null K Q 3377 3377 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs863224975 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31178764de l null N null 3378 3378 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201110 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs104894790 NCI-TCGA Cosmic [ClinVar]: X-linked DMD-related dystrophinopathy, [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:22895193,cosmic_study:452,pubmed:8301652 Xp21.2 X 31178751G> A null R * 3381 3381 missense 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000012024 A0A075B6G3 DMD Dystrophin Ensembl,NCI-TCGA,dbSNP rs104894790 NCI-TCGA Cosmic [ClinVar]: X-linked DMD-related dystrophinopathy, [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:22895193,cosmic_study:452,pubmed:8301652 Xp21.2 X 31178751G> A null R * 3381 3381 missense 1 X-linked DMD-related dystrophinopathy ClinVar:RCV000985010 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043781 Xp21.2 X 31178745T> G null K Q 3383 3383 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs886039663 Xp21.2 X 31178745de l null R null 3384 3384 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl rs978406887 Xp21.2 X 31178733C> T null A T 3387 3387 missense 0.936 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,NCI-TCGA,gnomAD rs202219782 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31178732G> A null A V 3387 3387 2.65E-4 missense 0.832 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs372978469 Xp21.2 X 31178728C> G null K N 3388 3388 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1347150981 Xp21.2 X 31178723G> T null P H 3390 3390 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123832 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31178721G> A null R * 3391 3391 stop gained 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000763209 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123832 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31178721G> A null R * 3391 3391 stop gained 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000763209 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123832 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31178721G> A null R * 3391 3391 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000180030,ClinVar:RCV000763209 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1423537877 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:419,cosmic_study:452 Xp21.2 X 31178720C> T null R Q 3391 3391 missense 0.987 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin dbSNP rs1602416457 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31178710G> T null Y * 3394 3394 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000819336 A0A075B6G3 DMD Dystrophin Ensembl rs398123833 Xp21.2 X 31178700G> A null Q * 3398 3398 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1370666237 Xp21.2 X 31178697T> C null T A 3399 3399 missense 0.899 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1569420329 Xp21.2 X 31178696G> C null T S 3399 3399 missense 0.982 probably damaging 0.12 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs771965372 Xp21.2 X 31178684C> T null G E 3403 3403 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1114167437 Xp21.2 X 31178681de l null D null 3404 3404 frameshift 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs367657320 Xp21.2 X 31178680G> C null D E 3404 3404 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs745766977 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31178681T> C null D G 3404 3404 missense 0.953 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000687497 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs770516401 Xp21.2 X 31178679T> C null N D 3405 3405 missense 0.984 probably damaging 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs748838045 Xp21.2 X 31178676T> C null M V 3406 3406 missense 0.137 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs777510517 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31178669G> A null T I 3408 3408 missense 0.565 possibly damaging 0.05 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000470937 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs770996763 Xp21.2 X 31177969G> C null P A 3409 3409 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs770996763 Xp21.2 X 31177969G> T null P T 3409 3409 missense 0.523 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs751030250 Xp21.2 X 31177966C> A null V F 3410 3410 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC rs769388506 Xp21.2 X 31177965A> C null V G 3410 3410 missense 0.71 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs751030250 Xp21.2 X 31177966C> T null V I 3410 3410 missense 0.084 benign 0.54 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs751030250 Xp21.2 X 31177966C> G null V L 3410 3410 missense 0.526 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs1042981379 Xp21.2 X 31177962G> T null T N 3411 3411 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1556035795 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31177956de l null I null 3413 3413 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000532407 A0A075B6G3 DMD Dystrophin gnomAD rs1462556759 Xp21.2 X 31177956A> G null I T 3413 3413 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs763535691 Xp21.2 X 31177951A> G null F L 3415 3415 missense 0.005 benign 0.3 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs201217593 [ClinVar]: Pectus excavatum, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31177947C> T null W * 3416 3416 stop gained 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000763208 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs201217593 [ClinVar]: Pectus excavatum, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31177947C> T null W * 3416 3416 stop gained 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000415019 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs201217593 [ClinVar]: Pectus excavatum, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31177947C> T null W * 3416 3416 stop gained 0 Dilated cardiomyopathy 3B (CMD3B) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:302045 pubmed:20301298,ClinVar:RCV000763208 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs201217593 [ClinVar]: Pectus excavatum, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31177947C> T null W * 3416 3416 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000763208,ClinVar:RCV001035227 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs201217593 [ClinVar]: Pectus excavatum, [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31177947C> T null W * 3416 3416 stop gained 0 Pectus excavatum MIM:169300 pubmed:22237449,ClinVar:RCV000415019 A0A075B6G3 DMD Dystrophin ESP,ExAC,gnomAD rs376745644 Xp21.2 X 31177946C> G null W C 3416 3416 missense 0.127 benign 0.28 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs373898385 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31177945G> C null P A 3417 3417 missense 0.474 possibly damaging 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000547278 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs747382806 Xp21.2 X 31177942C> T null V I 3418 3418 missense 0.205 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123835 Xp21.2 X 31177937du p null S null 3420 3420 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl rs398123836 Xp21.2 X 31177935G> A null S F 3420 3420 missense 0.02 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569418231 Xp21.2 X 31177936A> G null S P 3420 3420 missense 0.02 benign 0.05 deleterious 0 A0A075B6G3 DMD Dystrophin NCI-TCGA,dbSNP,gnomAD rs104894791 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Becker muscular dystrophy cosmic_study:419,pubmed:8301652 Xp21.2 X 31177932G> A null A V 3421 3421 missense 0.003 benign 0.19 tolerated 1 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000012027 A0A075B6G3 DMD Dystrophin TOPMed rs1312602763 Xp21.2 X 31173599G> A null A V 3423 3423 missense 0.059 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1339174553 Xp21.2 X 31173596G> A null S L 3424 3424 missense 0.847 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1315056812 Xp21.2 X 31173593G> C null S C 3425 3425 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1391772078 Xp21.2 X 31173591G> A null P S 3426 3426 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886042691 Xp21.2 X 31173588G> A null Q * 3427 3427 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs776084073 Xp21.2 X 31173576C> G null D H 3431 3431 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs776084073 Xp21.2 X 31173576C> T null D N 3431 3431 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602369798 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31173563G> C null S * 3435 3435 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990562 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs768314745 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31173561G> A null R C 3436 3436 missense 1.0 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630558 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs372442975 Xp21.2 X 31173560C> T null R H 3436 3436 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1243654997 Xp21.2 X 31173548T> C null Y C 3440 3440 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1190810913 Xp21.2 X 31173543T> C null S G 3442 3442 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1269257289 Xp21.2 X 31172401C> T null M I 3447 3447 missense 0.835 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1201177282 Xp21.2 X 31172390T> C null N S 3451 3451 missense 0.065 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1489694587 Xp21.2 X 31172385A> C null S A 3453 3453 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs886043084 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31172381de l null Y null 3454 3454 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001211734 A0A075B6G3 DMD Dystrophin dbSNP rs1556028034 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31172377de l null N null 3456 3456 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630502 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760285922 Xp21.2 X 31172375T> C null N S 3456 3456 missense 0.561 possibly damaging 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs772371046 Xp21.2 X 31172349T> C null I V 3465 3465 missense 0.219 benign 0.55 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC rs760197864 Xp21.2 X 31169600C> T null D N 3466 3466 missense 0.987 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1060502630 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31169590_31169591insT T null H null 3469 3469 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000475711 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224976 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31169584A> C null L * 3471 3471 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201187 A0A075B6G3 DMD Dystrophin TOPMed rs1469403981 Xp21.2 X 31169573A> G null Y H 3475 3475 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs895755247 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31169567G> A null Q * 3477 3477 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990561 A0A075B6G3 DMD Dystrophin Ensembl rs895755247 Xp21.2 X 31169567G> T null Q K 3477 3477 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs372682676 Xp21.2 X 31169556G> C null N K 3480 3480 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs368594777 NCI-TCGA Cosmic [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary cosmic_study:331 Xp21.2 X 31169554T> C null Q R 3481 3481 missense 0.062 benign 0.6 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001046093 A0A075B6G3 DMD Dystrophin dbSNP rs398123837 Xp21.2 X 31169549_31169550de l null S null 3483 3483 frameshift 0 A0A075B6G3 DMD Dystrophin TOPMed rs1449063440 Xp21.2 X 31169548G> C null S C 3483 3483 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs886043375 Xp21.2 X 31169548de l null P * 3484 3485 stop gained 0 A0A075B6G3 DMD Dystrophin dbSNP rs886043375 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31169548du p null L null 3485 3485 frameshift 0 Becker muscular dystrophy (BMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:300376 pubmed:16322188,pubmed:20301298,pubmed:25313375,ClinVar:RCV000595095 A0A075B6G3 DMD Dystrophin dbSNP rs886043375 [ClinVar]: Duchenne muscular dystrophy, [ClinVar]: Becker muscular dystrophy Xp21.2 X 31169548du p null L null 3485 3485 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990560 A0A075B6G3 DMD Dystrophin ExAC rs774764427 Xp21.2 X 31169535C> A null Q H 3487 3487 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,dbSNP,gnomAD rs771240938 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31169531G> A null R C 3489 3489 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1297635532 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31169530C> T null R H 3489 3489 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs749781194 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 Xp21.2 X 31169522C> T null A T 3492 3492 missense 0.994 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs886042495 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31169519G> A null Q * 3493 3493 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001071113 A0A075B6G3 DMD Dystrophin gnomAD rs886042495 Xp21.2 X 31169519G> T null Q K 3493 3493 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1338614317 Xp21.2 X 31169518T> A null Q L 3493 3493 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1338614317 Xp21.2 X 31169518T> C null Q R 3493 3493 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602337330 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31169497_31169498CT[2 ] null E * 3499 3500 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990559 A0A075B6G3 DMD Dystrophin dbSNP rs1556024147 Xp21.2 X 31169493de l null E null 3502 3502 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs863224977 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31169492C> A null E * 3502 3502 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000201119 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs773880226 Xp21.2 X 31169491T> G null E A 3502 3502 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs773880226 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31169491T> A null E V 3502 3502 missense 0.996 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000233132 A0A075B6G3 DMD Dystrophin dbSNP rs878854366 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31169486_31169487CT[1 ] null E null 3505 3505 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000226304 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1556024095 Xp21.2 X 31169477C> A null E * 3507 3507 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs769957244 Xp21.2 X 31169471T> C null I V 3509 3509 missense 0.169 benign 0.38 tolerated 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ExAC,gnomAD rs751514746 Xp21.2 X 31169460A> C null D E 3512 3512 2.65E-4 missense 0.97 probably damaging 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1056947008 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31169459G> T null L I 3513 3513 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1569401103 Xp21.2 X 31169450C> A null E * 3516 3516 stop gained 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs752218533 Xp21.2 X 31147511G> T null Q K 3521 3521 missense 0.747 possibly damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs1444515702 Xp21.2 X 31147507G> A null A V 3522 3522 missense 0.087 benign 0.32 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1131691670 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31147505C> G null E Q 3523 3523 missense 0.999 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000809099 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886043817 Xp21.2 X 31147500A> T null Y * 3524 3524 stop gained 0 A0A075B6G3 DMD Dystrophin Ensembl rs1006046137 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31147501T> C null Y C 3524 3524 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs905145891 Xp21.2 X 31147496G> A null R C 3526 3526 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs139547504 cosmic curated [ClinVar]: Duchenne muscular dystrophy, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23103869,cosmic_study:382,cosmic_study:436 Xp21.2 X 31147495C> T null R H 3526 3526 5.3E-4 missense 0.988 probably damaging 0.01 deleterious 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000895600 A0A075B6G3 DMD Dystrophin TOPMed rs1366436379 Xp21.2 X 31147485C> G null Q H 3529 3529 missense 0.668 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs759195377 Xp21.2 X 31147481G> C null H D 3531 3531 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs886043324 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31147480T> C null H R 3531 3531 missense 0.982 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000475495 A0A075B6G3 DMD Dystrophin TOPMed rs1348523383 Xp21.2 X 31147476T> A null E D 3532 3532 missense 0.003 benign 1.0 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886041629 Xp21.2 X 31147477_31147478delinsCCCCACTTTAAAGTTTCTTTAAAGTTTTCTTACACCTACATTTAA A null E F 3532 3532 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1023553628 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31147477T> C null E G 3532 3532 missense 0.007 benign 0.42 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs766716563 cosmic curated [Cosmic]: endometrium, [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp21.2 X 31147478C> T null E K 3532 3532 missense 0.194 benign 0.25 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001243918 A0A075B6G3 DMD Dystrophin gnomAD rs1243711898 Xp21.2 X 31147473A> C null H Q 3533 3533 missense 0.022 benign 0.54 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1555998259 Xp21.2 X 31147468C> A null G V 3535 3535 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC rs150957972 Xp21.2 X 31147463A> T null S T 3537 3537 missense 0.236 benign 0.18 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC rs145123497 Xp21.2 X 31147462G> T null S Y 3537 3537 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123843 Xp21.2 X 31147459G> C null P R 3538 3538 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs367748290 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31147457G> C null L V 3539 3539 missense 0.343 benign 0.25 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630545 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs747236323 Xp21.2 X 31147453G> A null P L 3540 3540 missense 0.042 benign 0.1 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs398123844 Xp21.2 X 31147450de l null P null 3542 3542 frameshift 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs770722415 Xp21.2 X 31147444G> C null P R 3543 3543 missense 0.729 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC rs749089007 Xp21.2 X 31147442C> T null E K 3544 3544 missense 0.888 possibly damaging 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602146767 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31147438_31147439du p null M null 3545 3545 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000990558 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777631613 Xp21.2 X 31147437C> T null M I 3545 3545 missense 0.583 possibly damaging 0.07 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1423425694 Xp21.2 X 31147432G> A null P L 3547 3547 missense 0.062 benign 0.38 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756033149 Xp21.2 X 31147433G> T null P T 3547 3547 missense 0.458 possibly damaging 0.49 tolerated 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs139492098 cosmic curated [ClinVar]: Duchenne muscular dystrophy, [Cosmic]: liver cosmic_study:381 Xp21.2 X 31147429G> A null T I 3548 3548 missense 0.005 benign 0.43 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001043284 A0A075B6G3 DMD Dystrophin dbSNP rs886044325 Xp21.2 X 31147423_31147424du p null Q null 3551 3551 frameshift 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1064793742 Xp21.2 X 31147421G> A null Q * 3551 3551 stop gained 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,dbSNP,gnomAD rs199974153 Xp21.2 X 31147411C> A null R L 3554 3554 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs199974153 Xp21.2 X 31147411C> T null R Q 3554 3554 missense 0.428 benign 0.11 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1427119360 Xp21.2 X 31147412G> A null R W 3554 3554 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374369906 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 Xp21.2 X 31147389C> A null E D 3561 3561 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,gnomAD rs750800262 cosmic curated [Cosmic]: breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:327,cosmic_study:414,cosmic_study:588 Xp21.2 X 31147376G> A null R C 3566 3566 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6G3 DMD Dystrophin gnomAD rs1221893618 Xp21.2 X 31147361G> A null R C 3571 3571 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs935091512 Xp21.2 X 31147360C> T null R H 3571 3571 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1060502625 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31147348de l null M null 3576 3576 frameshift 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000473878 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs777330782 Xp21.2 X 31147329G> T null D E 3581 3581 missense 0.822 possibly damaging 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1277280454 Xp21.2 X 31147322T> A null K * 3584 3584 stop gained 0 A0A075B6G3 DMD Dystrophin gnomAD rs1277280454 Xp21.2 X 31147322T> C null K E 3584 3584 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP rs1602145926 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31147307G> A null Q * 3589 3589 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000810732 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs760703246 Xp21.2 X 31147298T> C null R G 3592 3592 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1385794215 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31147289G> A null Q * 3595 3595 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630504 A0A075B6G3 DMD Dystrophin gnomAD rs1385794215 Xp21.2 X 31147289G> T null Q K 3595 3595 missense 0.646 possibly damaging 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,NCI-TCGA,TOPMed,gnomAD rs772199578 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31147277G> T null Q K 3599 3599 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs754333675 Xp21.2 X 31146405C> T null E K 3603 3603 missense 0.966 probably damaging 0.17 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs764516612 Xp21.2 X 31146397T> G null K N 3605 3605 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1187263061 Xp21.2 X 31146398T> C null K R 3605 3605 missense 0.174 benign 0.73 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs1555996685 Xp21.2 X 31146386G> A null T I 3609 3609 missense 0.561 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1471194253 Xp21.2 X 31146380A> G null V A 3611 3611 missense 0.003 benign 0.42 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC rs760753090 Xp21.2 X 31146381C> A null V L 3611 3611 missense 0.012 benign 0.96 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1166112191 Xp21.2 X 31146372G> A null P S 3614 3614 missense 0.982 probably damaging 0.15 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP rs751391426 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31146369_31146371de l null S null 3615 3615 inframe deletion 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001066128 A0A075B6G3 DMD Dystrophin ESP,TOPMed,dbSNP rs368996545 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31146366T> C null T A 3616 3616 missense 0.053 benign 0.15 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000703034 A0A075B6G3 DMD Dystrophin ESP,TOPMed,dbSNP rs368996545 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31146366T> G null T P 3616 3616 missense 0.029 benign 0.01 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630568 A0A075B6G3 DMD Dystrophin gnomAD rs1470608087 Xp21.2 X 31146348C> G null D H 3622 3622 missense 0.547 possibly damaging 0.05 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1228308814 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31146344C> T null S N 3623 3623 missense 0.836 possibly damaging 0.16 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044628 [ClinVar]: Duchenne muscular dystrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31146333T> C null M V 3627 3627 missense 0.242 benign 0.25 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000630555 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1057522606 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31146323C> T null R Q 3630 3630 missense 0.115 benign 0.13 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000527267 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774578079 Xp21.2 X 31146317A> G null V A 3632 3632 missense 0.171 benign 0.68 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1418575445 Xp21.2 X 31146314C> T null G D 3633 3633 missense 0.138 benign 0.08 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1397794482 Xp21.2 X 31146315C> T null G S 3633 3633 missense 0.053 benign 0.26 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs941558150 Xp21.2 X 31146312T> C null S G 3634 3634 missense 0.279 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin gnomAD rs1237558621 Xp21.2 X 31146311C> T null S N 3634 3634 missense 0.974 probably damaging 0.06 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs200166885 Xp21.2 X 31146302G> A null S L 3637 3637 missense 0.295 benign 0.24 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed,gnomAD rs990606875 Xp21.2 X 31146297A> G null S P 3639 3639 missense 0.713 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1233446469 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31146292C> A null M I 3640 3640 missense 0.003 benign 0.14 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs756576362 Xp21.2 X 31134190C> G null E D 3642 3642 missense 0.182 benign 0.61 tolerated 0 A0A075B6G3 DMD Dystrophin gnomAD rs1247506768 Xp21.2 X 31134182A> T null L H 3645 3645 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs753289022 Xp21.2 X 31134180G> C null L V 3646 3646 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs767535529 Xp21.2 X 31134177T> C null S G 3647 3647 missense 0.693 possibly damaging 0.22 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs759642119 Xp21.2 X 31134176C> T null S N 3647 3647 missense 0.713 possibly damaging 0.24 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs774488107 Xp21.2 X 31134168G> C null Q E 3650 3650 missense 0.122 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,gnomAD rs766599250 Xp21.2 X 31134165C> T null D N 3651 3651 missense 0.132 benign 0.31 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs763291053 Xp21.2 X 31134162T> C null T A 3652 3652 missense 0.003 benign 0.34 tolerated 0 A0A075B6G3 DMD Dystrophin dbSNP,gnomAD rs1131691998 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31134161G> C null T R 3652 3652 missense 0.224 benign 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001225960 A0A075B6G3 DMD Dystrophin gnomAD rs1165601315 Xp21.2 X 31134158C> G null S T 3653 3653 missense 0.237 benign 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs776282633 Xp21.2 X 31134152C> T null G E 3655 3655 missense 0.219 benign 0.02 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs886044592 Xp21.2 X 31134145C> G null E D 3657 3657 missense 0.155 benign 0.25 tolerated 0 A0A075B6G3 DMD Dystrophin ExAC,dbSNP,gnomAD rs768532317 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31134141C> T null V M 3659 3659 missense 0.998 probably damaging 0.0 deleterious 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000460936 A0A075B6G3 DMD Dystrophin ExAC,gnomAD rs746893659 Xp21.2 X 31134138T> A null M L 3660 3660 missense 0.899 possibly damaging 0.01 deleterious 0 A0A075B6G3 DMD Dystrophin ESP,ExAC,TOPMed,gnomAD rs144819143 Xp21.2 X 31134125T> C null N S 3664 3664 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed rs1363280114 Xp21.2 X 31134110C> G null S T 3669 3669 missense 0.03 benign 0.57 tolerated 0 A0A075B6G3 DMD Dystrophin TOPMed rs1190044383 Xp21.2 X 31126673C> T null G E 3672 3672 missense 0.476 possibly damaging 0.13 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl rs1795743 Xp21.2 X 31126670C> T null R K 3673 3673 missense 0.0 benign 0.76 tolerated 0 A0A075B6G3 DMD Dystrophin Ensembl,dbSNP rs398123849 cosmic curated [Cosmic]: large_intestine, [ClinVar]: Duchenne muscular dystrophy cosmic_study:376 Xp21.2 X 31126666A> C null N K 3674 3674 missense 0.373 benign 0.12 tolerated 1 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV001223058 A0A075B6G3 DMD Dystrophin ExAC,TOPMed,dbSNP,gnomAD rs768016083 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31126665T> C null T A 3675 3675 missense 0.0 benign 0.52 tolerated 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000547650 A0A075B6G3 DMD Dystrophin Ensembl rs1569297977 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp21.2 X 31126661G> A null P L 3676 3676 missense 0.311 benign 0.0 deleterious 0 A0A075B6G3 DMD Dystrophin Ensembl rs377013131 Xp21.2 X 31126656T> C null K E 3678 3678 missense 0.287 benign 0.04 deleterious 0 A0A075B6G3 DMD Dystrophin TOPMed,dbSNP,gnomAD rs1477369230 [ClinVar]: Duchenne muscular dystrophy Xp21.2 X 31126647T> A null R * 3681 3681 stop gained 0 Duchenne muscular dystrophy (DMD) The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). MIM:310200 pubmed:15642897,pubmed:16322188,pubmed:18079231,pubmed:19945913,pubmed:19945914,pubmed:20301298,pubmed:20301604,pubmed:20597083,ClinVar:RCV000795130 A0A075B6G3 DMD Dystrophin TOPMed rs1177428396 Xp21.2 X 31126644C> G null E Q 3682 3682 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6G3 DMD Dystrophin gnomAD rs1464917165 Xp21.2 X 31121923A> C null M R 3685 3685 missense 0.791 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6G3 DMD Dystrophin gnomAD rs1464917165 Xp21.2 X 31121923A> G null M T 3685 3685 missense 0.546 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,TOPMed rs374177126 1q31.3 1 197421689A> G null T A 2 2 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1450290360 1q31.3 1 197421690C> T null T I 2 2 missense 0.029 benign 0.0 deleterious - low confidence 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs773252159 cosmic curated [Cosmic]: central_nervous_system pubmed:23917401,cosmic_study:552 1q31.3 1 197421697T> A null N K 4 4 missense 0.05 benign 0.03 deleterious - low confidence 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1400964618 cosmic curated [Cosmic]: central_nervous_system pubmed:23917401,cosmic_study:552 1q31.3 1 197421696A> G null N S 4 4 missense 0.003 benign 0.79 tolerated - low confidence 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1355316419 cosmic curated [Cosmic]: central_nervous_system pubmed:23917401,cosmic_study:552 1q31.3 1 197421699G> A null G D 5 5 missense 0.883 possibly damaging 0.07 tolerated - low confidence 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs992823566 1q31.3 1 197421701G> A null V I 6 6 missense 0.003 benign 0.67 tolerated - low confidence 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1280443561 1q31.3 1 197421707C> G null L V 8 8 missense 0.063 benign 0.1 tolerated - low confidence 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs749411741 1q31.3 1 197421711T> C null L P 9 9 missense 0.062 benign 0.09 tolerated - low confidence 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1214843496 1q31.3 1 197421713A> G null N D 10 10 missense 0.01 benign 0.11 tolerated - low confidence 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1471854178 1q31.3 1 197421714A> C null N T 10 10 missense 0.254 benign 0.05 tolerated - low confidence 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs1271816211 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197421720A> G null Y C 12 12 missense 0.025 benign 0.02 deleterious - low confidence 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000795927,ClinVar:RCV001250596 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs1271816211 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197421720A> G null Y C 12 12 missense 0.025 benign 0.02 deleterious - low confidence 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000787575 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs1271816211 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197421720A> G null Y C 12 12 missense 0.025 benign 0.02 deleterious - low confidence 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000795927 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs766150173 1q31.3 1 197421732C> G null S C 16 16 missense 0.93 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs766150173 1q31.3 1 197421732C> T null S F 16 16 missense 0.201 benign 0.05 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1238001290 1q31.3 1 197421738C> T null P L 18 18 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1457623741 1q31.3 1 197421737C> T null P S 18 18 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,dbSNP,gnomAD rs267598278 NCI-TCGA Cosmic [ClinVar]: Retinal dystrophy, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22842228,cosmic_study:511 1q31.3 1 197421741C> T null S L 19 19 missense 0.998 probably damaging 0.02 deleterious 1 Retinal dystrophy ClinVar:RCV000505040 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs368336603 1q31.3 1 197421747T> C null V A 21 21 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1558126931 1q31.3 1 197421749G> A null G S 22 22 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs752406879 1q31.3 1 197421753G> C null C S 23 23 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1218091828 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q31.3 1 197421761G> T null D Y 26 26 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs757884719 1q31.3 1 197421764A> C null I L 27 27 missense 0.242 benign 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC rs142002146 1q31.3 1 197421765T> A null I N 27 27 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC rs142002146 1q31.3 1 197421765T> C null I T 27 27 missense 0.653 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs757884719 1q31.3 1 197421764A> G null I V 27 27 missense 0.038 benign 0.75 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1447779537 1q31.3 1 197421767A> G null K E 28 28 missense 0.01 benign 0.45 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs138936375 1q31.3 1 197421773G> A null D N 30 30 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1558127009 1q31.3 1 197421783A> C null H P 33 33 missense 0.0 benign 0.16 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1433345972 1q31.3 1 197421782C> T null H Y 33 33 missense 0.184 benign 0.53 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs781549185 1q31.3 1 197421785A> T null I F 34 34 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1336674793 1q31.3 1 197421786T> C null I T 34 34 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1386890068 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197421789C> T null T I 35 35 missense 0.386 benign 0.27 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs770834001 1q31.3 1 197421791C> A null L M 36 36 missense 0.541 possibly damaging 0.09 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs986645649 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q31.3 1 197421804C> T null S L 40 40 missense 0.014 benign 0.2 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs780399679 1q31.3 1 197421810G> T null G V 42 42 missense 0.013 benign 0.1 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1430888234 1q31.3 1 197421813C> T null S L 43 43 missense 0.0 benign 0.46 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes rs189395222 1q31.3 1 197421825T> A null V D 47 47 2.0E-4 missense 0.824 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs746906894 1q31.3 1 197421824G> A null V I 47 47 missense 0.01 benign 0.23 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs776701182 1q31.3 1 197421830G> A null A T 49 49 missense 0.358 benign 0.32 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs759242791 cosmic curated [Cosmic]: breast pubmed:22722201,cosmic_study:385 1q31.3 1 197421834G> A null G D 50 50 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1394602022 1q31.3 1 197421839G> C null V L 52 52 missense 0.0 benign 0.31 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs1553260517 [ClinVar]: Retinitis pigmentosa 1q31.3 1 197421845A> G null K E 54 54 missense 0.989 probably damaging 0.02 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000504745 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145956521 1q31.3 1 197421846A> G null K R 54 54 2.0E-4 missense 0.989 probably damaging 0.51 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs868258281 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197421848G> A null D N 55 55 missense 0.881 possibly damaging 0.05 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs867230786 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197421857G> A null E K 58 58 missense 0.062 benign 0.08 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs139463596 1q31.3 1 197421861G> A null S N 59 59 missense 0.021 benign 0.38 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs62636286 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa pubmed:12843338 1q31.3 1 197421863C> G null Q E 60 60 missense 0.015 benign 0.56 tolerated 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001101093 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs62636286 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa pubmed:12843338 1q31.3 1 197421863C> G null Q E 60 60 missense 0.015 benign 0.56 tolerated 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV001101092 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs62636286 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa pubmed:12843338 1q31.3 1 197421863C> G null Q E 60 60 missense 0.015 benign 0.56 tolerated 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV001101094 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs767896959 1q31.3 1 197421867C> A null P H 61 61 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs767896959 1q31.3 1 197421867C> T null P L 61 61 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1043057714 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197421866C> A null P T 61 61 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,dbSNP,gnomAD rs62636266 [ClinVar]: Retinitis pigmentosa 12 pubmed:11231775,pubmed:16205573 1q31.3 1 197421870G> A null C Y 62 62 missense 0.999 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001046839 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,dbSNP,gnomAD rs62636266 [ClinVar]: Retinitis pigmentosa 12 pubmed:11231775,pubmed:16205573 1q31.3 1 197421870G> A null C Y 62 62 missense 0.999 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,dbSNP,gnomAD rs62636266 [ClinVar]: Retinitis pigmentosa 12 pubmed:11231775,pubmed:16205573 1q31.3 1 197421870G> A null C Y 62 62 missense 0.999 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001046839 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs749474420 1q31.3 1 197421878A> G null R G 65 65 missense 0.998 probably damaging 0.15 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs371557082 1q31.3 1 197421879G> A null R K 65 65 missense 0.994 probably damaging 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs748175297 1q31.3 1 197421882G> C null G A 66 66 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,gnomAD rs779069205 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197421881G> A null G R 66 66 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs748175297 1q31.3 1 197421882G> T null G V 66 66 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1204363918 1q31.3 1 197421884C> T null R C 67 67 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1281817527 1q31.3 1 197421885G> A null R H 67 67 missense 0.017 benign 0.13 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1281817527 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197421885G> C null R P 67 67 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1463952730 1q31.3 1 197421890A> G null I V 69 69 missense 0.017 benign 0.79 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs1558127317 [ClinVar]: Leber congenital amaurosis 8 1q31.3 1 197421900G> A null W * 72 72 stop gained 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000754594 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1214577970 1q31.3 1 197421917G> T null D Y 78 78 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1185924666 1q31.3 1 197421920T> A null C S 79 79 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs772255666 1q31.3 1 197421924A> G null H R 80 80 missense 0.212 benign 0.15 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs931715897 1q31.3 1 197421926A> G null R G 81 81 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1180527322 1q31.3 1 197421933A> G null Y C 83 83 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1470040992 1q31.3 1 197421942C> T null P L 86 86 missense 0.003 benign 0.32 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs373835764 1q31.3 1 197421945A> G null N S 87 87 missense 0.052 benign 0.23 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs373835764 1q31.3 1 197421945A> C null N T 87 87 missense 0.515 possibly damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1406289852 1q31.3 1 197421947T> A null C S 88 88 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1326237908 1q31.3 1 197421951T> A null L Q 89 89 missense 0.277 benign 0.59 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs890123571 1q31.3 1 197421950C> G null L V 89 89 missense 0.003 benign 0.32 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1348637480 1q31.3 1 197421954G> C null R T 90 90 missense 0.069 benign 0.51 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1373273006 1q31.3 1 197427455G> C null E D 91 91 missense 0.81 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs145282040 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:21720365,cosmic_study:331 1q31.3 1 197427454A> G null E G 91 91 missense 0.078 benign 0.01 deleterious 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs62645755 1q31.3 1 197421956G> A null E K 91 91 missense 0.867 possibly damaging 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,dbSNP,gnomAD rs62645755 [ClinVar]: Leber congenital amaurosis 8 pubmed:15024725 1q31.3 1 197421956G> C null E Q 91 91 missense 0.937 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001250598 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,dbSNP,gnomAD rs62645755 [ClinVar]: Leber congenital amaurosis 8 pubmed:15024725 1q31.3 1 197421956G> C null E Q 91 91 missense 0.937 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs145282040 [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 12 pubmed:20591486,pubmed:20956273 1q31.3 1 197427454A> T null E V 91 91 missense 0.937 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001053730 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs145282040 [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 12 pubmed:20591486,pubmed:20956273 1q31.3 1 197427454A> T null E V 91 91 missense 0.937 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV000504865 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs145282040 [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 12 pubmed:20591486,pubmed:20956273 1q31.3 1 197427454A> T null E V 91 91 missense 0.937 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001053730 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs145282040 [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 12 pubmed:20591486,pubmed:20956273 1q31.3 1 197427454A> T null E V 91 91 missense 0.937 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1461058905 1q31.3 1 197427457A> G null Y C 92 92 missense 0.808 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs886677687 1q31.3 1 197427456T> G null Y D 92 92 missense 0.426 benign 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs761199039 1q31.3 1 197427459G> T null V L 93 93 missense 0.113 benign 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs942235344 1q31.3 1 197427479G> C null Q H 99 99 missense 0.707 possibly damaging 0.36 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1435210193 1q31.3 1 197427483G> A null D N 101 101 missense 0.012 benign 0.05 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs766989894 1q31.3 1 197427484A> T null D V 101 101 missense 0.694 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs375056993 1q31.3 1 197427490C> T null T I 103 103 missense 0.039 benign 0.38 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs759961722 1q31.3 1 197427493G> A null G D 104 104 missense 0.861 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs752824817 1q31.3 1 197427497T> A null Y * 105 105 stop gained 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs765676754 1q31.3 1 197427496A> G null Y C 105 105 missense 0.819 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1011320296 1q31.3 1 197427498G> A null V I 106 106 missense 0.023 benign 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1348655032 1q31.3 1 197427505T> G null F C 108 108 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs758657548 1q31.3 1 197427504T> C null F L 108 108 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs751650324 1q31.3 1 197427515T> A null D E 111 111 missense 0.011 benign 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1288156248 1q31.3 1 197427518G> C null E D 112 112 missense 0.001 benign 0.81 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs757381371 1q31.3 1 197427520G> C null S T 113 113 missense 0.039 benign 0.41 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs779943125 1q31.3 1 197427523A> G null Y C 114 114 missense 0.527 possibly damaging 0.16 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs778790452 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 1q31.3 1 197427535T> A null I N 118 118 missense 0.185 benign 0.01 deleterious 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs778790452 1q31.3 1 197427535T> G null I S 118 118 missense 0.046 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,gnomAD rs142129159 1q31.3 1 197427534A> G null I V 118 118 missense 0.0 benign 0.68 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs747700125 1q31.3 1 197427538G> T null S I 119 119 missense 0.178 benign 0.15 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs747700125 1q31.3 1 197427538G> C null S T 119 119 missense 0.0 benign 1.0 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,gnomAD rs771762730 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197427540C> T null L F 120 120 missense 0.66 possibly damaging 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs62636267 cosmic curated [ClinVar]: Leber congenital amaurosis 8, [UniProt]: also found in patients with early-onset rod-cone retinal dystrophy, [Cosmic]: lung pubmed:15024725,pubmed:20956273,pubmed:21602930,pubmed:22065545 cosmic_study:417 1q31.3 1 197427547T> C null M T 122 122 missense 0.395 benign 0.0 deleterious 1 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001250657 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs62636267 cosmic curated [ClinVar]: Leber congenital amaurosis 8, [UniProt]: also found in patients with early-onset rod-cone retinal dystrophy, [Cosmic]: lung pubmed:15024725,pubmed:20956273,pubmed:21602930,pubmed:22065545 cosmic_study:417 1q31.3 1 197427547T> C null M T 122 122 missense 0.395 benign 0.0 deleterious 1 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs140494140 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427550T> C null F S 123 123 missense 0.994 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000266368,ClinVar:RCV001242513 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs140494140 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427550T> C null F S 123 123 missense 0.994 probably damaging 0.0 deleterious 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV000320328 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs140494140 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427550T> C null F S 123 123 missense 0.994 probably damaging 0.0 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000360994 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs140494140 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427550T> C null F S 123 123 missense 0.994 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001242513 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs863224862 [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427552G> C null V L 124 124 missense 0.472 possibly damaging 0.31 tolerated 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000199723 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs150412614 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Leber congenital amaurosis, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q31.3 1 197427555C> T null R * 125 125 2.0E-4 stop gained 0 Early-onset retinal dystrophy ClinVar:RCV000786007 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs150412614 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Leber congenital amaurosis, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q31.3 1 197427555C> T null R * 125 125 2.0E-4 stop gained 0 Leber congenital amaurosis (LCA) MIM:PS204000 pubmed:20301475,ClinVar:RCV001002994 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs150412614 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Leber congenital amaurosis, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q31.3 1 197427555C> T null R * 125 125 2.0E-4 stop gained 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001250600 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs150412614 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Leber congenital amaurosis, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q31.3 1 197427555C> T null R * 125 125 2.0E-4 stop gained 0 Retinal dystrophy ClinVar:RCV001075564 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150412614 1q31.3 1 197427555C> G null R G 125 125 2.0E-4 missense 0.781 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs530046423 cosmic curated [Cosmic]: autonomic_ganglia, [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:23334666,cosmic_study:466 1q31.3 1 197427556G> A null R Q 125 125 2.0E-4 missense 0.082 benign 0.04 deleterious 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs760154041 1q31.3 1 197427558A> G null T A 126 126 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs28939720 [Ensembl]: Retinitis pigmentosa 12 (rp12) 1q31.3 1 197427559C> A null T K 126 126 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28939720 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Septo-optic dysplasia sequence, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [ClinVar]: Skeletal disorder, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:15024725,pubmed:15459956,pubmed:16959974,pubmed:17724218,pubmed:20591486,pubmed:20956273,pubmed:22334370 pubmed:10508521,pubmed:16959974,pubmed:22810696,pubmed:23525077,cosmic_study:375,cosmic_study:376,cosmic_study:464 1q31.3 1 197427559C> T null T M 126 126 missense 0.999 probably damaging 0.0 deleterious 1 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000809110,ClinVar:RCV001250601 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28939720 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Septo-optic dysplasia sequence, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [ClinVar]: Skeletal disorder, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:15024725,pubmed:15459956,pubmed:16959974,pubmed:17724218,pubmed:20591486,pubmed:20956273,pubmed:22334370 pubmed:10508521,pubmed:16959974,pubmed:22810696,pubmed:23525077,cosmic_study:375,cosmic_study:376,cosmic_study:464 1q31.3 1 197427559C> T null T M 126 126 missense 0.999 probably damaging 0.0 deleterious 1 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28939720 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Septo-optic dysplasia sequence, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [ClinVar]: Skeletal disorder, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:15024725,pubmed:15459956,pubmed:16959974,pubmed:17724218,pubmed:20591486,pubmed:20956273,pubmed:22334370 pubmed:10508521,pubmed:16959974,pubmed:22810696,pubmed:23525077,cosmic_study:375,cosmic_study:376,cosmic_study:464 1q31.3 1 197427559C> T null T M 126 126 missense 0.999 probably damaging 0.0 deleterious 1 Optic atrophy MIM:PS165500 ClinVar:RCV001198731 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28939720 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Septo-optic dysplasia sequence, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [ClinVar]: Skeletal disorder, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:15024725,pubmed:15459956,pubmed:16959974,pubmed:17724218,pubmed:20591486,pubmed:20956273,pubmed:22334370 pubmed:10508521,pubmed:16959974,pubmed:22810696,pubmed:23525077,cosmic_study:375,cosmic_study:376,cosmic_study:464 1q31.3 1 197427559C> T null T M 126 126 missense 0.999 probably damaging 0.0 deleterious 1 Retinal dystrophy ClinVar:RCV001074789 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28939720 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Septo-optic dysplasia sequence, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [ClinVar]: Skeletal disorder, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:15024725,pubmed:15459956,pubmed:16959974,pubmed:17724218,pubmed:20591486,pubmed:20956273,pubmed:22334370 pubmed:10508521,pubmed:16959974,pubmed:22810696,pubmed:23525077,cosmic_study:375,cosmic_study:376,cosmic_study:464 1q31.3 1 197427559C> T null T M 126 126 missense 0.999 probably damaging 0.0 deleterious 1 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000787576 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28939720 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Septo-optic dysplasia sequence, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [ClinVar]: Skeletal disorder, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:15024725,pubmed:15459956,pubmed:16959974,pubmed:17724218,pubmed:20591486,pubmed:20956273,pubmed:22334370 pubmed:10508521,pubmed:16959974,pubmed:22810696,pubmed:23525077,cosmic_study:375,cosmic_study:376,cosmic_study:464 1q31.3 1 197427559C> T null T M 126 126 missense 0.999 probably damaging 0.0 deleterious 1 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000006087,ClinVar:RCV000809110 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28939720 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Septo-optic dysplasia sequence, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [ClinVar]: Skeletal disorder, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:15024725,pubmed:15459956,pubmed:16959974,pubmed:17724218,pubmed:20591486,pubmed:20956273,pubmed:22334370 pubmed:10508521,pubmed:16959974,pubmed:22810696,pubmed:23525077,cosmic_study:375,cosmic_study:376,cosmic_study:464 1q31.3 1 197427559C> T null T M 126 126 missense 0.999 probably damaging 0.0 deleterious 1 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28939720 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Septo-optic dysplasia sequence, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [ClinVar]: Skeletal disorder, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:15024725,pubmed:15459956,pubmed:16959974,pubmed:17724218,pubmed:20591486,pubmed:20956273,pubmed:22334370 pubmed:10508521,pubmed:16959974,pubmed:22810696,pubmed:23525077,cosmic_study:375,cosmic_study:376,cosmic_study:464 1q31.3 1 197427559C> T null T M 126 126 missense 0.999 probably damaging 0.0 deleterious 1 Septo-optic dysplasia sequence (SOD) MIM:182230 pubmed:20301552,ClinVar:RCV001198731 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28939720 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Septo-optic dysplasia sequence, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [ClinVar]: Skeletal disorder, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:15024725,pubmed:15459956,pubmed:16959974,pubmed:17724218,pubmed:20591486,pubmed:20956273,pubmed:22334370 pubmed:10508521,pubmed:16959974,pubmed:22810696,pubmed:23525077,cosmic_study:375,cosmic_study:376,cosmic_study:464 1q31.3 1 197427559C> T null T M 126 126 missense 0.999 probably damaging 0.0 deleterious 1 Skeletal disorder ClinVar:RCV001196030 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs28939720 [Ensembl]: Retinitis pigmentosa 12 (rp12) 1q31.3 1 197427559C> G null T R 126 126 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs763291563 1q31.3 1 197427565A> G null Q R 128 128 missense 0.0 benign 1.0 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1409490389 1q31.3 1 197427577T> A null L * 132 132 stop gained 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs896160584 pubmed:15691574,pubmed:16205573 1q31.3 1 197427583T> C null L P 134 134 missense 0.987 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1371897880 1q31.3 1 197427585G> A null A T 135 135 missense 0.166 benign 0.1 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,gnomAD rs764359208 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197427586C> T null A V 135 135 missense 0.698 possibly damaging 0.25 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs751825580 1q31.3 1 197427590G> C null L F 136 136 missense 0.844 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC rs541891882 1q31.3 1 197427595A> G null N S 138 138 2.0E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201700675 cosmic curated [Cosmic]: large_intestine, [ClinVar]: Retinitis pigmentosa 12 pubmed:23856246,cosmic_study:504 1q31.3 1 197427597A> T null S C 139 139 2.0E-4 missense 0.873 possibly damaging 0.0 deleterious 1 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001067120 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201700675 cosmic curated [Cosmic]: large_intestine, [ClinVar]: Retinitis pigmentosa 12 pubmed:23856246,cosmic_study:504 1q31.3 1 197427597A> T null S C 139 139 2.0E-4 missense 0.873 possibly damaging 0.0 deleterious 1 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001067120 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201700675 1q31.3 1 197427597A> G null S G 139 139 2.0E-4 missense 0.011 benign 0.13 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1474289008 1q31.3 1 197427599C> G null S R 139 139 missense 0.018 benign 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1485086776 1q31.3 1 197427600A> G null T A 140 140 missense 0.279 benign 0.05 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs754955488 1q31.3 1 197427604A> G null Y C 141 141 missense 0.934 probably damaging 0.17 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs778507836 1q31.3 1 197427608A> C null Q H 142 142 missense 0.031 benign 0.24 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1425910355 1q31.3 1 197427607A> C null Q P 142 142 missense 0.855 possibly damaging 0.08 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs747971487 1q31.3 1 197427609T> C null Y H 143 143 missense 0.93 probably damaging 0.08 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1393225712 1q31.3 1 197427612A> T null I F 144 144 missense 0.559 possibly damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62635654 cosmic curated [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:11231775,pubmed:11389483,pubmed:12700176,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:20683928,pubmed:20956273 pubmed:10508521,pubmed:22810696,cosmic_study:376 1q31.3 1 197427615C> T null R C 145 145 missense 0.007 benign 0.02 deleterious 1 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001052374,ClinVar:RCV001250604 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62635654 cosmic curated [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:11231775,pubmed:11389483,pubmed:12700176,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:20683928,pubmed:20956273 pubmed:10508521,pubmed:22810696,cosmic_study:376 1q31.3 1 197427615C> T null R C 145 145 missense 0.007 benign 0.02 deleterious 1 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62635654 cosmic curated [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:11231775,pubmed:11389483,pubmed:12700176,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:20683928,pubmed:20956273 pubmed:10508521,pubmed:22810696,cosmic_study:376 1q31.3 1 197427615C> T null R C 145 145 missense 0.007 benign 0.02 deleterious 1 Retinal dystrophy ClinVar:RCV001074882 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62635654 cosmic curated [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:11231775,pubmed:11389483,pubmed:12700176,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:20683928,pubmed:20956273 pubmed:10508521,pubmed:22810696,cosmic_study:376 1q31.3 1 197427615C> T null R C 145 145 missense 0.007 benign 0.02 deleterious 1 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000787577 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62635654 cosmic curated [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:11231775,pubmed:11389483,pubmed:12700176,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:20683928,pubmed:20956273 pubmed:10508521,pubmed:22810696,cosmic_study:376 1q31.3 1 197427615C> T null R C 145 145 missense 0.007 benign 0.02 deleterious 1 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000006086,ClinVar:RCV001052374 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62635654 cosmic curated [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521,pubmed:11231775,pubmed:11389483,pubmed:12700176,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:20683928,pubmed:20956273 pubmed:10508521,pubmed:22810696,cosmic_study:376 1q31.3 1 197427615C> T null R C 145 145 missense 0.007 benign 0.02 deleterious 1 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs62635654 [Ensembl]: Retinitis pigmentosa 12 (rp12) 1q31.3 1 197427615C> G null R G 145 145 missense 0.23 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs375040930 [ClinVar]: Leber congenital amaurosis 8, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [UniProt]: found in a patient with early-onset retinal dystrophy; unknown pathological significance pubmed:28819299 1q31.3 1 197427616G> A null R H 145 145 missense 0.708 possibly damaging 0.16 tolerated 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001235069,ClinVar:RCV001250605 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs375040930 [ClinVar]: Leber congenital amaurosis 8, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [UniProt]: found in a patient with early-onset retinal dystrophy; unknown pathological significance pubmed:28819299 1q31.3 1 197427616G> A null R H 145 145 missense 0.708 possibly damaging 0.16 tolerated 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001235069 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs375040930 1q31.3 1 197427616G> T null R L 145 145 missense 0.23 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1272516105 1q31.3 1 197427619T> A null V D 146 146 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1363051651 1q31.3 1 197427618G> A null V I 146 146 missense 0.994 probably damaging 0.32 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1451348539 1q31.3 1 197427625T> C null L P 148 148 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs771264436 1q31.3 1 197427628A> G null E G 149 149 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs770529006 1q31.3 1 197427627G> C null E Q 149 149 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs746307301 cosmic curated [Cosmic]: central_nervous_system pubmed:22820256,cosmic_study:402 1q31.3 1 197427630C> T null R C 150 150 missense 0.659 possibly damaging 0.05 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs62636287 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:12843338,pubmed:18682808,pubmed:20591486 1q31.3 1 197427631G> A null R H 150 150 0.008187 missense 0.0 benign 0.36 tolerated 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000387362,ClinVar:RCV001082958 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs62636287 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:12843338,pubmed:18682808,pubmed:20591486 1q31.3 1 197427631G> A null R H 150 150 0.008187 missense 0.0 benign 0.36 tolerated 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV000318162 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs62636287 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:12843338,pubmed:18682808,pubmed:20591486 1q31.3 1 197427631G> A null R H 150 150 0.008187 missense 0.0 benign 0.36 tolerated 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000293077 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs62636287 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:12843338,pubmed:18682808,pubmed:20591486 1q31.3 1 197427631G> A null R H 150 150 0.008187 missense 0.0 benign 0.36 tolerated 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001082958 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs746307301 1q31.3 1 197427630C> A null R S 150 150 missense 0.146 benign 0.73 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs878853365 [ClinVar]: Retinal dystrophy 1q31.3 1 197427634G> A null G D 151 151 missense 1.0 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV000225667 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs767648174 1q31.3 1 197427633G> C null G R 151 151 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs767648174 [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427633G> A null G S 151 151 missense 1.0 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001069480 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs767648174 [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427633G> A null G S 151 151 missense 1.0 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV000225453 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs767648174 [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427633G> A null G S 151 151 missense 1.0 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001069480 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,gnomAD rs369074728 1q31.3 1 197427636A> G null R G 152 152 missense 0.433 benign 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs762045465 1q31.3 1 197427639C> A null L I 153 153 missense 0.807 possibly damaging 0.17 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1324392528 1q31.3 1 197427642G> A null A T 154 154 missense 0.57 possibly damaging 0.56 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,gnomAD rs571001153 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 1q31.3 1 197427647G> A null M I 155 155 2.0E-4 missense 0.037 benign 0.16 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1274680186 1q31.3 1 197427649T> G null L R 156 156 missense 0.767 possibly damaging 0.85 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1293863321 1q31.3 1 197427652C> T null T I 157 157 missense 0.055 benign 0.21 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs750506922 1q31.3 1 197427654C> G null P A 158 158 missense 0.698 possibly damaging 0.54 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs886045784 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197427655C> T null P L 158 158 missense 0.883 possibly damaging 0.75 tolerated 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000398743 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs886045784 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197427655C> T null P L 158 158 missense 0.883 possibly damaging 0.75 tolerated 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV000309182 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs886045784 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197427655C> T null P L 158 158 missense 0.883 possibly damaging 0.75 tolerated 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000344256 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs150726045 1q31.3 1 197427657A> G null N D 159 159 missense 0.061 benign 0.15 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs765210114 1q31.3 1 197427659C> G null N K 159 159 missense 0.003 benign 0.17 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1325771628 1q31.3 1 197427658A> G null N S 159 159 missense 0.001 benign 0.64 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs150726045 1q31.3 1 197427657A> T null N Y 159 159 missense 0.478 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1481310279 1q31.3 1 197427664C> A null P H 161 161 missense 0.951 probably damaging 0.05 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs752628195 1q31.3 1 197427669T> G null L V 163 163 missense 0.273 benign 0.12 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1305736194 1q31.3 1 197427672G> A null V I 164 164 missense 0.197 benign 0.21 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs758184564 1q31.3 1 197427675G> A null V I 165 165 missense 0.089 benign 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1371610654 1q31.3 1 197427683T> G null F L 167 167 missense 0.049 benign 0.65 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1418893083 1q31.3 1 197427685T> C null V A 168 168 missense 0.315 benign 0.52 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs140608881 1q31.3 1 197427684G> T null V F 168 168 missense 0.011 benign 0.66 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs140608881 1q31.3 1 197427684G> A null V I 168 168 missense 0.192 benign 0.33 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs140608881 1q31.3 1 197427684G> C null V L 168 168 missense 0.011 benign 0.51 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs781053993 1q31.3 1 197427690A> C null N H 170 170 missense 0.694 possibly damaging 0.12 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1163031172 1q31.3 1 197427693G> A null D N 171 171 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1298164843 1q31.3 1 197427701T> A null N K 173 173 missense 0.998 probably damaging 0.05 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs745366076 1q31.3 1 197427700A> G null N S 173 173 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs776030428 1q31.3 1 197427703T> A null V D 174 174 missense 0.522 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,gnomAD rs528781963 1q31.3 1 197427702G> A null V I 174 174 2.0E-4 missense 0.007 benign 0.37 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,gnomAD rs528781963 1q31.3 1 197427702G> C null V L 174 174 2.0E-4 missense 0.055 benign 0.39 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs1294237377 [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427705C> A null H N 175 175 missense 0.067 benign 0.04 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000553580 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs1294237377 [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427705C> A null H N 175 175 missense 0.067 benign 0.04 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000553580 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1558131980 1q31.3 1 197427707C> G null H Q 175 175 missense 0.713 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1294237377 1q31.3 1 197427705C> T null H Y 175 175 missense 0.874 possibly damaging 0.21 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs1355198242 [ClinVar]: Leber congenital amaurosis 8, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197427714T> C null S P 178 178 missense 0.583 possibly damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000625947 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1355198242 1q31.3 1 197427714T> A null S T 178 178 missense 0.009 benign 0.42 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74846670 1q31.3 1 197427723A> G null I V 181 181 3.99E-4 missense 0.556 possibly damaging 0.23 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs137853137 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:11389483 1q31.3 1 197427726A> T null K * 182 182 stop gained 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000691427,ClinVar:RCV001250606 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs137853137 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:11389483 1q31.3 1 197427726A> T null K * 182 182 stop gained 0 Retinal dystrophy ClinVar:RCV000787826 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs137853137 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:11389483 1q31.3 1 197427726A> T null K * 182 182 stop gained 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000787578 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs137853137 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:11389483 1q31.3 1 197427726A> T null K * 182 182 stop gained 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000006090,ClinVar:RCV000691427 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs1558132026 [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427730C> T null P L 183 183 missense 0.836 possibly damaging 0.02 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000701115 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs1558132026 [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427730C> T null P L 183 183 missense 0.836 possibly damaging 0.02 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000701115 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs767723282 1q31.3 1 197427729C> T null P S 183 183 missense 0.168 benign 0.09 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs760493683 1q31.3 1 197427733A> G null Y C 184 184 missense 0.455 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,TOPMed,gnomAD rs144457647 1q31.3 1 197427739T> C null I T 186 186 2.0E-4 missense 0.228 benign 0.14 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs760788174 1q31.3 1 197427738A> G null I V 186 186 missense 0.556 possibly damaging 0.29 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1186168911 1q31.3 1 197427743A> C null E D 187 187 missense 0.994 probably damaging 0.13 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs766411096 1q31.3 1 197427741G> C null E Q 187 187 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1009552469 1q31.3 1 197427748A> G null Y C 189 189 missense 0.853 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1009552469 1q31.3 1 197427748A> T null Y F 189 189 missense 0.009 benign 0.84 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1169750033 1q31.3 1 197427752G> T null Q H 190 190 missense 0.745 possibly damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1410617337 1q31.3 1 197427751A> C null Q P 190 190 missense 0.583 possibly damaging 0.05 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs866405724 1q31.3 1 197427760A> G null Q R 193 193 missense 0.992 probably damaging 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs62636268 1q31.3 1 197427766T> A null L Q 195 195 missense 1.0 probably damaging 0.42 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1439253389 1q31.3 1 197427780G> A null A T 200 200 missense 0.012 benign 0.94 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs762823359 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197427784C> T null S F 201 201 missense 0.771 possibly damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs142857810 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12 pubmed:11389483 1q31.3 1 197427787C> T null T M 202 202 missense 0.348 benign 0.23 tolerated 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001087243 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs142857810 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12 pubmed:11389483 1q31.3 1 197427787C> T null T M 202 202 missense 0.348 benign 0.23 tolerated 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001087243 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1355298140 1q31.3 1 197427792A> C null K Q 204 204 missense 0.697 possibly damaging 0.38 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1363548032 1q31.3 1 197427799A> G null E G 206 206 missense 0.084 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368152306 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197427798G> A null E K 206 206 missense 0.027 benign 0.05 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1174487197 1q31.3 1 197427803G> C null K N 207 207 missense 0.131 benign 0.45 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,dbSNP,gnomAD rs62636269 [ClinVar]: Leber congenital amaurosis 8 1q31.3 1 197427804G> T null G * 208 208 stop gained 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001250636 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1558132142 1q31.3 1 197427805G> C null G A 208 208 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs62636269 1q31.3 1 197427804G> A null G R 208 208 missense 1.0 probably damaging 0.08 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs755608336 1q31.3 1 197427808A> C null D A 209 209 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs779451259 1q31.3 1 197427813A> T null I F 211 211 missense 0.343 benign 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1394180573 1q31.3 1 197427816T> C null Y H 212 212 missense 0.952 probably damaging 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs1085307972 1q31.3 1 197427826G> A null G D 215 215 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116471343 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 1, [ClinVar]: Retinitis pigmentosa 12 pubmed:15459956,pubmed:20956273,pubmed:22065545,pubmed:28819299 1q31.3 1 197427831C> A null P T 217 217 0.001198 missense 0.999 probably damaging 0.04 deleterious 0 Leber congenital amaurosis 1 (LCA1) Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. MIM:204000 pubmed:20301475,pubmed:30285347,ClinVar:RCV000986491 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116471343 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 1, [ClinVar]: Retinitis pigmentosa 12 pubmed:15459956,pubmed:20956273,pubmed:22065545,pubmed:28819299 1q31.3 1 197427831C> A null P T 217 217 0.001198 missense 0.999 probably damaging 0.04 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001064315 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116471343 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 1, [ClinVar]: Retinitis pigmentosa 12 pubmed:15459956,pubmed:20956273,pubmed:22065545,pubmed:28819299 1q31.3 1 197427831C> A null P T 217 217 0.001198 missense 0.999 probably damaging 0.04 deleterious 0 Retinal dystrophy ClinVar:RCV001073689 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116471343 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 1, [ClinVar]: Retinitis pigmentosa 12 pubmed:15459956,pubmed:20956273,pubmed:22065545,pubmed:28819299 1q31.3 1 197427831C> A null P T 217 217 0.001198 missense 0.999 probably damaging 0.04 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001064315 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116471343 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 1, [ClinVar]: Retinitis pigmentosa 12 pubmed:15459956,pubmed:20956273,pubmed:22065545,pubmed:28819299 1q31.3 1 197427831C> A null P T 217 217 0.001198 missense 0.999 probably damaging 0.04 deleterious 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1485255522 1q31.3 1 197427836C> G null D E 218 218 missense 0.025 benign 0.15 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs62636289 [UniProt]: located on the same allele as T-1354 pubmed:11389483 1q31.3 1 197427834G> C null D H 218 218 missense 0.866 possibly damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1208388319 1q31.3 1 197427840C> G null Q E 220 220 missense 0.005 benign 0.18 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1013704098 1q31.3 1 197427846A> G null T A 222 222 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1013704098 1q31.3 1 197427846A> T null T S 222 222 missense 0.996 probably damaging 0.23 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs769155214 1q31.3 1 197427852C> T null L F 224 224 missense 0.187 benign 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1417506109 1q31.3 1 197427858G> T null G C 226 226 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1020630434 1q31.3 1 197427859G> A null G D 226 226 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs772476137 1q31.3 1 197427862G> A null G E 227 227 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,dbSNP,gnomAD rs539189291 pubmed:12573663,pubmed:20956273 1q31.3 1 197427861G> A null G R 227 227 2.0E-4 missense 1.0 probably damaging 0.1 tolerated 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs758723407 1q31.3 1 197427865T> C null F S 228 228 missense 0.078 benign 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs757137398 1q31.3 1 197427874G> A null G D 231 231 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,dbSNP,gnomAD rs776591659 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [Cosmic]: lung pubmed:15459956,pubmed:20591486,pubmed:20956273 cosmic_study:417 1q31.3 1 197427873G> A null G S 231 231 missense 1.0 probably damaging 0.0 deleterious 1 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000684930 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,dbSNP,gnomAD rs776591659 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [Cosmic]: lung pubmed:15459956,pubmed:20591486,pubmed:20956273 cosmic_study:417 1q31.3 1 197427873G> A null G S 231 231 missense 1.0 probably damaging 0.0 deleterious 1 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,dbSNP,gnomAD rs776591659 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [Cosmic]: lung pubmed:15459956,pubmed:20591486,pubmed:20956273 cosmic_study:417 1q31.3 1 197427873G> A null G S 231 231 missense 1.0 probably damaging 0.0 deleterious 1 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000684930 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,dbSNP,gnomAD rs776591659 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [Cosmic]: lung pubmed:15459956,pubmed:20591486,pubmed:20956273 cosmic_study:417 1q31.3 1 197427873G> A null G S 231 231 missense 1.0 probably damaging 0.0 deleterious 1 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs757137398 1q31.3 1 197427874G> T null G V 231 231 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs62636271 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Leber congenital amaurosis, [ClinVar]: Retinitis pigmentosa 12 pubmed:15024725,pubmed:17724218 1q31.3 1 197427880T> C null I T 233 233 missense 0.575 possibly damaging 0.0 deleterious 0 Leber congenital amaurosis (LCA) MIM:PS204000 pubmed:20301475,ClinVar:RCV001002996 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs62636271 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Leber congenital amaurosis, [ClinVar]: Retinitis pigmentosa 12 pubmed:15024725,pubmed:17724218 1q31.3 1 197427880T> C null I T 233 233 missense 0.575 possibly damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000529725,ClinVar:RCV001250658 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs62636271 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Leber congenital amaurosis, [ClinVar]: Retinitis pigmentosa 12 pubmed:15024725,pubmed:17724218 1q31.3 1 197427880T> C null I T 233 233 missense 0.575 possibly damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs62636271 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Leber congenital amaurosis, [ClinVar]: Retinitis pigmentosa 12 pubmed:15024725,pubmed:17724218 1q31.3 1 197427880T> C null I T 233 233 missense 0.575 possibly damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000529725 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs1553261618 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197427885G> C null D H 235 235 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,gnomAD rs557930078 1q31.3 1 197427888G> A null V I 236 236 2.0E-4 missense 0.005 benign 0.4 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1217298785 1q31.3 1 197427893A> C null R S 237 237 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs761667081 1q31.3 1 197427902C> A null N K 240 240 missense 0.265 benign 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1286029958 1q31.3 1 197427901A> G null N S 240 240 missense 0.018 benign 0.29 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1215418379 1q31.3 1 197427903C> A null Q K 241 241 missense 0.011 benign 0.59 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1428615833 1q31.3 1 197427904A> G null Q R 241 241 missense 0.265 benign 0.37 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1367098058 1q31.3 1 197427906A> C null N H 242 242 missense 0.005 benign 0.22 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1442149881 1q31.3 1 197427909C> G null L V 243 243 missense 0.283 benign 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs986038900 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23856246,cosmic_study:504 1q31.3 1 197427917C> A null F L 245 245 missense 0.034 benign 0.02 deleterious 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs750042314 1q31.3 1 197427937A> G null N S 252 252 missense 0.001 benign 1.0 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs755733363 1q31.3 1 197427939G> A null A T 253 253 missense 0.005 benign 0.47 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs779549138 1q31.3 1 197427940C> T null A V 253 253 missense 0.005 benign 0.25 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1294515268 1q31.3 1 197427943C> G null S C 254 254 missense 0.174 benign 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs753282553 1q31.3 1 197427949A> G null N S 256 256 missense 0.003 benign 0.25 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs754542005 1q31.3 1 197427952C> T null P L 257 257 missense 0.036 benign 0.36 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs779370684 1q31.3 1 197427957C> T null L F 259 259 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs772386967 1q31.3 1 197427961T> C null V A 260 260 missense 0.978 probably damaging 0.07 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,gnomAD rs200313756 1q31.3 1 197427960G> A null V I 260 260 2.0E-4 missense 0.978 probably damaging 0.32 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs910489135 [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427964A> G null N S 261 261 missense 0.985 probably damaging 0.06 tolerated 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001067848 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs910489135 [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427964A> G null N S 261 261 missense 0.985 probably damaging 0.06 tolerated 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000504944 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs910489135 [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197427964A> G null N S 261 261 missense 0.985 probably damaging 0.06 tolerated 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001067848 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,gnomAD rs200354761 1q31.3 1 197427970C> T null T I 263 263 2.0E-4 missense 0.168 benign 0.07 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1351201640 1q31.3 1 197427973A> G null Q R 264 264 missense 0.001 benign 0.39 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1157876574 1q31.3 1 197427984G> C null G R 268 268 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs771067367 1q31.3 1 197427987G> A null D N 269 269 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138259621 1q31.3 1 197427993A> G null S G 271 271 3.99E-4 missense 0.009 benign 0.33 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,dbSNP rs759662695 [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8 1q31.3 1 197427998C> A null C * 272 272 stop gained 0 Early-onset retinal dystrophy ClinVar:RCV000786008 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,dbSNP rs759662695 [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8 1q31.3 1 197427998C> A null C * 272 272 stop gained 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001250630 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs62635658 [UniProt]: without preservation of the paraarteriolar retinal pigment epithelium pubmed:12843338 1q31.3 1 197427996T> G null C G 272 272 missense 0.475 possibly damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs770031120 1q31.3 1 197427999A> G null K E 273 273 missense 0.011 benign 0.16 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed rs752144575 1q31.3 1 197429450C> G null S C 274 274 missense 0.934 probably damaging 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs903147846 1q31.3 1 197429454C> A null N K 275 275 missense 0.015 benign 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs62636290 [ClinVar]: Pigmented paravenous chorioretinal atrophy, [UniProt]: found in patients with retinitis pigmentosa; unknown pathological significance; heterozygous, [ClinVar]: Retinitis pigmentosa 12 pubmed:11389483,pubmed:30120214 1q31.3 1 197429453A> G null N S 275 275 missense 0.049 benign 0.13 tolerated 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000763788,ClinVar:RCV001239396 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs62636290 [ClinVar]: Pigmented paravenous chorioretinal atrophy, [UniProt]: found in patients with retinitis pigmentosa; unknown pathological significance; heterozygous, [ClinVar]: Retinitis pigmentosa 12 pubmed:11389483,pubmed:30120214 1q31.3 1 197429453A> G null N S 275 275 missense 0.049 benign 0.13 tolerated 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV000763788 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs62636290 [ClinVar]: Pigmented paravenous chorioretinal atrophy, [UniProt]: found in patients with retinitis pigmentosa; unknown pathological significance; heterozygous, [ClinVar]: Retinitis pigmentosa 12 pubmed:11389483,pubmed:30120214 1q31.3 1 197429453A> G null N S 275 275 missense 0.049 benign 0.13 tolerated 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000763788,ClinVar:RCV001239396 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1240136255 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q31.3 1 197429456C> T null P L 276 276 missense 0.918 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs781635398 1q31.3 1 197429455C> A null P T 276 276 missense 0.939 probably damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs62636273 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197429460T> A null C * 277 277 stop gained 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000542027,ClinVar:RCV001250608 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs62636273 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197429460T> A null C * 277 277 stop gained 0 Retinal dystrophy ClinVar:RCV001074017 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs62636273 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197429460T> A null C * 277 277 stop gained 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000542027 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1470618182 1q31.3 1 197429461C> T null H Y 278 278 missense 0.197 benign 0.56 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs780489778 1q31.3 1 197429465A> G null N S 279 279 missense 0.038 benign 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1254393801 1q31.3 1 197429468G> A null G E 280 280 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1468516605 1q31.3 1 197429480A> T null H L 284 284 missense 0.003 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs114052315 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:15459956 1q31.3 1 197429486G> A null R Q 286 286 9.98E-4 missense 0.076 benign 0.03 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000490294,ClinVar:RCV000946241 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs114052315 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:15459956 1q31.3 1 197429486G> A null R Q 286 286 9.98E-4 missense 0.076 benign 0.03 deleterious 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV000329706 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs114052315 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:15459956 1q31.3 1 197429486G> A null R Q 286 286 9.98E-4 missense 0.076 benign 0.03 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000262643 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs114052315 NCI-TCGA Cosmic [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 pubmed:15459956 1q31.3 1 197429486G> A null R Q 286 286 9.98E-4 missense 0.076 benign 0.03 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000946241 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs749366098 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197429485C> T null R W 286 286 missense 0.0 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1295526099 1q31.3 1 197429488T> G null W G 287 287 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1210075381 1q31.3 1 197429501C> T null S F 291 291 missense 0.003 benign 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs997410183 1q31.3 1 197429504G> C null C S 292 292 missense 0.457 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs746999383 1q31.3 1 197429509T> C null C R 294 294 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs112447965 1q31.3 1 197429512C> A null P T 295 295 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs140648074 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197429518C> T null L F 297 297 missense 0.105 benign 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001242512 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs140648074 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197429518C> T null L F 297 297 missense 0.105 benign 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001242512 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs776426313 1q31.3 1 197429524A> T null S C 299 299 missense 0.694 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs776426313 1q31.3 1 197429524A> G null S G 299 299 missense 0.138 benign 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1372015862 1q31.3 1 197429525G> A null S N 299 299 missense 0.258 benign 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1457458079 1q31.3 1 197429527G> T null G W 300 300 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs759124926 1q31.3 1 197429534C> G null A G 302 302 missense 0.089 benign 0.22 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs987199796 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22842228,cosmic_study:511 1q31.3 1 197429533G> A null A T 302 302 missense 0.946 probably damaging 0.33 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs759124926 1q31.3 1 197429534C> T null A V 302 302 missense 0.913 probably damaging 0.19 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1376084761 1q31.3 1 197429546T> C null V A 306 306 missense 0.001 benign 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1376084761 1q31.3 1 197429546T> A null V D 306 306 missense 0.347 benign 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs762334857 1q31.3 1 197429551T> C null W R 308 308 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs863223341 [ClinVar]: Retinitis pigmentosa 1q31.3 1 197429555G> A null C Y 309 309 missense 0.77 possibly damaging 0.0 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000201433 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs751958158 1q31.3 1 197429567C> T null P L 313 313 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1334984837 1q31.3 1 197429571T> G null C W 314 314 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs1558133731 [ClinVar]: Leber congenital amaurosis 8 1q31.3 1 197429570G> A null C Y 314 314 missense 0.915 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000754590 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs767706271 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 1q31.3 1 197429577C> A null H Q 316 316 missense 0.018 benign 0.11 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,gnomAD rs181410446 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 1q31.3 1 197429578G> A null G R 317 317 2.0E-4 missense 0.0 benign 0.45 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs754152953 1q31.3 1 197429582C> A null A D 318 318 missense 0.296 benign 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs114630940 [ClinVar]: CRB1-Related Disorders, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: unknown pathological significance pubmed:18682808 1q31.3 1 197429581G> A null A T 318 318 missense 0.007 benign 0.1 tolerated 0 CRB1-Related Disorders ClinVar:RCV000778210 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs114630940 [ClinVar]: CRB1-Related Disorders, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: unknown pathological significance pubmed:18682808 1q31.3 1 197429581G> A null A T 318 318 missense 0.007 benign 0.1 tolerated 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001080703 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs114630940 [ClinVar]: CRB1-Related Disorders, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: unknown pathological significance pubmed:18682808 1q31.3 1 197429581G> A null A T 318 318 missense 0.007 benign 0.1 tolerated 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs114630940 [ClinVar]: CRB1-Related Disorders, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: unknown pathological significance pubmed:18682808 1q31.3 1 197429581G> A null A T 318 318 missense 0.007 benign 0.1 tolerated 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001080703 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs751018219 1q31.3 1 197429585A> C null Q P 319 319 missense 0.133 benign 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs1411345985 pubmed:18055821 1q31.3 1 197429588G> A null C Y 320 320 missense 0.823 possibly damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs77334581 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197429594C> T null P L 322 322 2.0E-4 missense 0.0 benign 0.84 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,gnomAD rs77334581 1q31.3 1 197429594C> A null P Q 322 322 2.0E-4 missense 0.018 benign 0.61 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed rs374914600 1q31.3 1 197429593C> A null P T 322 322 missense 0.0 benign 0.69 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs531305918 1q31.3 1 197429597T> C null V A 323 323 missense 0.152 benign 0.08 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs531305918 1q31.3 1 197429597T> G null V G 323 323 missense 0.543 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1181117983 1q31.3 1 197429596G> A null V M 323 323 missense 0.486 possibly damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs745652853 1q31.3 1 197429602C> G null Q E 325 325 missense 0.026 benign 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150011272 1q31.3 1 197429603A> T null Q L 325 325 2.0E-4 missense 0.0 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs150011272 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197429603A> G null Q R 325 325 2.0E-4 missense 0.0 benign 0.26 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs749746650 [ClinVar]: Retinal dystrophy 1q31.3 1 197429605G> A null G R 326 326 missense 0.988 probably damaging 0.03 deleterious 0 Retinal dystrophy ClinVar:RCV000225460 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs762685645 1q31.3 1 197429606G> T null G V 326 326 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,dbSNP,gnomAD rs574162883 [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197429611G> A null E K 328 328 3.99E-4 missense 0.395 benign 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001224385 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,dbSNP,gnomAD rs574162883 [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197429611G> A null E K 328 328 3.99E-4 missense 0.395 benign 0.0 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000504704 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,dbSNP,gnomAD rs574162883 [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197429611G> A null E K 328 328 3.99E-4 missense 0.395 benign 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001224385 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs62645747 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Leber congenital amaurosis, [ClinVar]: Leber congenital amaurosis 1 pubmed:28819299 1q31.3 1 197429614T> C null C R 329 329 missense 0.915 probably damaging 0.0 deleterious 0 Leber congenital amaurosis (LCA) MIM:PS204000 pubmed:20301475,ClinVar:RCV000515691 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs62645747 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Leber congenital amaurosis, [ClinVar]: Leber congenital amaurosis 1 pubmed:28819299 1q31.3 1 197429614T> C null C R 329 329 missense 0.915 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 1 (LCA1) Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. MIM:204000 pubmed:20301475,pubmed:30285347,ClinVar:RCV000986493 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs62645747 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Leber congenital amaurosis, [ClinVar]: Leber congenital amaurosis 1 pubmed:28819299 1q31.3 1 197429614T> C null C R 329 329 missense 0.915 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001250609 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs62645747 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Leber congenital amaurosis, [ClinVar]: Leber congenital amaurosis 1 pubmed:28819299 1q31.3 1 197429614T> C null C R 329 329 missense 0.915 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs62645747 1q31.3 1 197429614T> A null C S 329 329 missense 0.813 possibly damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs62645748 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [Ensembl]: Leber congenital amaurosis 8 (lca8), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: without preservation of the paraarteriolar retinal pigment epithelium pubmed:10508521,pubmed:11231775,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:18055821,pubmed:20591486,pubmed:20956273,pubmed:22065545 pubmed:10508521,pubmed:11231775 1q31.3 1 197434706G> A null C Y 329 329 missense 0.915 probably damaging 0.0 deleterious 0 CRB1-Related Disorders ClinVar:RCV000778211 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs62645748 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [Ensembl]: Leber congenital amaurosis 8 (lca8), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: without preservation of the paraarteriolar retinal pigment epithelium pubmed:10508521,pubmed:11231775,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:18055821,pubmed:20591486,pubmed:20956273,pubmed:22065545 pubmed:10508521,pubmed:11231775 1q31.3 1 197434706G> A null C Y 329 329 missense 0.915 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000032814,ClinVar:RCV000554663,ClinVar:RCV000762874 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs62645748 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [Ensembl]: Leber congenital amaurosis 8 (lca8), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: without preservation of the paraarteriolar retinal pigment epithelium pubmed:10508521,pubmed:11231775,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:18055821,pubmed:20591486,pubmed:20956273,pubmed:22065545 pubmed:10508521,pubmed:11231775 1q31.3 1 197434706G> A null C Y 329 329 missense 0.915 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs62645748 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [Ensembl]: Leber congenital amaurosis 8 (lca8), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: without preservation of the paraarteriolar retinal pigment epithelium pubmed:10508521,pubmed:11231775,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:18055821,pubmed:20591486,pubmed:20956273,pubmed:22065545 pubmed:10508521,pubmed:11231775 1q31.3 1 197434706G> A null C Y 329 329 missense 0.915 probably damaging 0.0 deleterious 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV000762874,ClinVar:RCV001097540 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs62645748 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [Ensembl]: Leber congenital amaurosis 8 (lca8), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: without preservation of the paraarteriolar retinal pigment epithelium pubmed:10508521,pubmed:11231775,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:18055821,pubmed:20591486,pubmed:20956273,pubmed:22065545 pubmed:10508521,pubmed:11231775 1q31.3 1 197434706G> A null C Y 329 329 missense 0.915 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV000505155 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs62645748 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [Ensembl]: Leber congenital amaurosis 8 (lca8), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: without preservation of the paraarteriolar retinal pigment epithelium pubmed:10508521,pubmed:11231775,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:18055821,pubmed:20591486,pubmed:20956273,pubmed:22065545 pubmed:10508521,pubmed:11231775 1q31.3 1 197434706G> A null C Y 329 329 missense 0.915 probably damaging 0.0 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000787579 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs62645748 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [Ensembl]: Leber congenital amaurosis 8 (lca8), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: without preservation of the paraarteriolar retinal pigment epithelium pubmed:10508521,pubmed:11231775,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:18055821,pubmed:20591486,pubmed:20956273,pubmed:22065545 pubmed:10508521,pubmed:11231775 1q31.3 1 197434706G> A null C Y 329 329 missense 0.915 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000032815,ClinVar:RCV000554663,ClinVar:RCV000762874 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs62645748 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [Ensembl]: Leber congenital amaurosis 8 (lca8), [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12, [UniProt]: without preservation of the paraarteriolar retinal pigment epithelium pubmed:10508521,pubmed:11231775,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:18055821,pubmed:20591486,pubmed:20956273,pubmed:22065545 pubmed:10508521,pubmed:11231775 1q31.3 1 197434706G> A null C Y 329 329 missense 0.915 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1419776426 1q31.3 1 197434715A> T null N I 332 332 missense 0.77 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs748823018 1q31.3 1 197434718C> T null A V 333 333 missense 0.019 benign 0.31 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs768348379 1q31.3 1 197434720G> A null V I 334 334 missense 0.137 benign 0.08 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs886045785 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197434726A> C null N H 336 336 missense 0.001 benign 0.13 tolerated 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000342756 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs886045785 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197434726A> C null N H 336 336 missense 0.001 benign 0.13 tolerated 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV000377446 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs886045785 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197434726A> C null N H 336 336 missense 0.001 benign 0.13 tolerated 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000283014 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,NCI-TCGA rs267598279 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197434730G> A null G E 337 337 missense 0.028 benign 0.19 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs867256644 1q31.3 1 197434729G> A null G R 337 337 missense 0.578 possibly damaging 0.07 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs878853371 [ClinVar]: Retinal dystrophy 1q31.3 1 197434732C> T null Q * 338 338 stop gained 0 Retinal dystrophy ClinVar:RCV000225597 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1236248738 1q31.3 1 197434736G> A null S N 339 339 missense 0.343 benign 0.08 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs372778560 1q31.3 1 197434737C> A null S R 339 339 missense 0.017 benign 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,gnomAD rs557111131 1q31.3 1 197434738G> T null G C 340 340 2.0E-4 missense 0.366 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs557111131 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: unknown pathological significance pubmed:15459956 1q31.3 1 197434738G> A null G S 340 340 2.0E-4 missense 0.0 benign 1.0 tolerated 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1023684152 1q31.3 1 197434743A> T null Q H 341 341 missense 0.063 benign 0.12 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs905306614 1q31.3 1 197434752C> A null F L 344 344 missense 0.523 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1006177908 1q31.3 1 197434757G> A null S N 346 346 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs267598280 1q31.3 1 197434763G> A null G E 348 348 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs766793013 1q31.3 1 197434772C> T null T I 351 351 missense 0.541 possibly damaging 0.1 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs761288614 1q31.3 1 197434771A> C null T P 351 351 missense 0.69 possibly damaging 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs886045786 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197434780C> G null L V 354 354 missense 0.991 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000297577 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs886045786 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197434780C> G null L V 354 354 missense 0.991 probably damaging 0.0 deleterious 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV000401747 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs886045786 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197434780C> G null L V 354 354 missense 0.991 probably damaging 0.0 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000336148 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,gnomAD rs575358595 1q31.3 1 197434784C> T null T I 355 355 2.0E-4 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,NCI-TCGA,gnomAD rs575358595 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 1q31.3 1 197434784C> G null T S 355 355 2.0E-4 missense 0.985 probably damaging 0.08 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs758445365 1q31.3 1 197434789A> G null I V 357 357 missense 0.007 benign 0.37 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1346530439 1q31.3 1 197434792A> G null T A 358 358 missense 0.985 probably damaging 0.07 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1319246161 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 1q31.3 1 197434801T> G null F V 361 361 missense 0.998 probably damaging 0.03 deleterious 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1016244815 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197434811G> A null R K 364 364 missense 0.334 benign 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1443067009 1q31.3 1 197434813G> A null D N 365 365 missense 0.394 benign 0.15 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1227467460 1q31.3 1 197434814A> T null D V 365 365 missense 0.99 probably damaging 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1448933231 1q31.3 1 197434825A> G null I V 369 369 missense 0.003 benign 0.52 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1279989141 1q31.3 1 197434828A> G null I V 370 370 missense 0.277 benign 0.28 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs750298942 1q31.3 1 197434831T> A null L M 371 371 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1400574905 1q31.3 1 197434835A> T null H L 372 372 missense 0.192 benign 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1283640636 1q31.3 1 197434836T> A null H Q 372 372 missense 0.033 benign 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1286621680 1q31.3 1 197434841A> G null E G 374 374 missense 0.019 benign 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs151092557 [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197434840G> A null E K 374 374 3.99E-4 missense 0.031 benign 0.03 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000878361 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs151092557 [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197434840G> A null E K 374 374 3.99E-4 missense 0.031 benign 0.03 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000878361 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs62635655 [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521 1q31.3 1 197434846G> T null E * 376 376 stop gained 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000006085 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs747788050 1q31.3 1 197434848G> T null E D 376 376 missense 0.689 possibly damaging 0.34 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs778596427 1q31.3 1 197434847A> G null E G 376 376 missense 0.836 possibly damaging 0.34 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs62635655 [Ensembl]: Retinitis pigmentosa 12 (rp12) 1q31.3 1 197434846G> A null E K 376 376 missense 0.072 benign 0.08 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs62635655 [Ensembl]: Retinitis pigmentosa 12 (rp12) 1q31.3 1 197434846G> C null E Q 376 376 missense 0.686 possibly damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1206762397 1q31.3 1 197434856T> G null F C 379 379 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs983449864 1q31.3 1 197434858C> T null L F 380 380 missense 0.939 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs771659302 1q31.3 1 197434859T> G null L R 380 380 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1263132284 1q31.3 1 197434862A> C null N T 381 381 missense 0.012 benign 1.0 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1179276987 1q31.3 1 197434864A> G null I V 382 382 missense 0.028 benign 0.52 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1184801101 1q31.3 1 197434868G> A null S N 383 383 missense 0.341 benign 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs910299744 1q31.3 1 197434870A> T null I F 384 384 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs1409740542 pubmed:20956273 1q31.3 1 197434871T> C null I T 384 384 missense 0.998 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1221191804 1q31.3 1 197434873C> G null Q E 385 385 missense 0.253 benign 0.07 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs369184026 1q31.3 1 197434877A> G null D G 386 386 missense 0.433 benign 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs369184026 1q31.3 1 197434877A> T null D V 386 386 missense 0.825 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs878853367 [ClinVar]: Retinal dystrophy 1q31.3 1 197434880C> T null S F 387 387 missense 0.93 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV000225544 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs924243698 1q31.3 1 197434879T> C null S P 387 387 missense 0.898 possibly damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs924243698 1q31.3 1 197434879T> A null S T 387 387 missense 0.67 possibly damaging 0.07 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs747455011 1q31.3 1 197434883G> T null R I 388 388 missense 0.985 probably damaging 0.13 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,gnomAD rs576795665 1q31.3 1 197434886T> C null L S 389 389 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs143511261 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197434900C> T null Q * 394 394 stop gained 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000817389,ClinVar:RCV001250612 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs143511261 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197434900C> T null Q * 394 394 stop gained 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000817389 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs886043310 1q31.3 1 197434901A> C null Q P 394 394 missense 0.874 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,gnomAD rs541014050 1q31.3 1 197434904G> A null S N 395 395 2.0E-4 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1558137862 1q31.3 1 197434907G> A null G D 396 396 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs764091598 1q31.3 1 197434922T> C null M T 401 401 missense 0.0 benign 0.89 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,gnomAD rs377765256 1q31.3 1 197434921A> G null M V 401 401 missense 0.003 benign 0.41 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs1553262957 [ClinVar]: Retinitis pigmentosa 1q31.3 1 197434925T> C null L P 402 402 missense 0.857 possibly damaging 0.03 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV001199675 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs973899139 1q31.3 1 197434927A> T null S C 403 403 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs751631626 1q31.3 1 197434936A> G null S G 406 406 missense 0.027 benign 0.07 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs62636274 [ClinVar]: Leber congenital amaurosis 8 pubmed:15024725 1q31.3 1 197434937G> T null S I 406 406 missense 0.929 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001250614 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs62636274 [ClinVar]: Leber congenital amaurosis 8 pubmed:15024725 1q31.3 1 197434937G> T null S I 406 406 missense 0.929 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1466486278 1q31.3 1 197434941G> T null L F 407 407 missense 0.444 benign 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1210439377 1q31.3 1 197434944G> T null Q H 408 408 missense 0.998 probably damaging 0.08 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1289830333 1q31.3 1 197434946C> G null S * 409 409 stop gained 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs1064797128 [ClinVar]: Leber congenital amaurosis 1q31.3 1 197434949T> A null V E 410 410 missense 0.9 possibly damaging 0.0 deleterious 0 Leber congenital amaurosis (LCA) MIM:PS204000 pubmed:20301475,ClinVar:RCV001199680 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs757383417 1q31.3 1 197434948G> A null V M 410 410 missense 0.273 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,gnomAD rs574874966 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 1q31.3 1 197434958G> A null G D 413 413 2.0E-4 missense 0.994 probably damaging 0.06 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs778604058 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q31.3 1 197434961C> T null T I 414 414 missense 0.003 benign 0.22 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1426006136 cosmic curated [Cosmic]: endometrium cosmic_study:419 1q31.3 1 197434964G> A null W * 415 415 missense 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs752329622 1q31.3 1 197434966C> T null H Y 416 416 missense 0.027 benign 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs746511519 1q31.3 1 197434970A> C null E A 417 417 missense 0.038 benign 0.16 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs563857130 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197434969G> A null E K 417 417 2.0E-4 missense 0.04 benign 0.2 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs776256497 1q31.3 1 197434973T> C null V A 418 418 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs770602363 1q31.3 1 197434978C> G null L V 420 420 missense 0.357 benign 0.23 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1370997208 1q31.3 1 197434981T> A null S T 421 421 missense 0.995 probably damaging 0.07 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1457203962 1q31.3 1 197434986G> T null M I 422 422 missense 0.76 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,dbSNP,gnomAD rs62635656 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521 pubmed:10508521,pubmed:1427914 1q31.3 1 197434985T> C null M T 422 422 2.0E-4 missense 0.223 benign 0.03 deleterious 0 CRB1-Related Disorders ClinVar:RCV000778213 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,dbSNP,gnomAD rs62635656 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521 pubmed:10508521,pubmed:1427914 1q31.3 1 197434985T> C null M T 422 422 2.0E-4 missense 0.223 benign 0.03 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001045972,ClinVar:RCV001250615 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,dbSNP,gnomAD rs62635656 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521 pubmed:10508521,pubmed:1427914 1q31.3 1 197434985T> C null M T 422 422 2.0E-4 missense 0.223 benign 0.03 deleterious 0 Retinal dystrophy ClinVar:RCV001075294 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,dbSNP,gnomAD rs62635656 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521 pubmed:10508521,pubmed:1427914 1q31.3 1 197434985T> C null M T 422 422 2.0E-4 missense 0.223 benign 0.03 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000006084,ClinVar:RCV001045972 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,dbSNP,gnomAD rs62635656 [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: CRB1-Related Disorders, [ClinVar]: Retinitis pigmentosa 12 pubmed:10508521 pubmed:10508521,pubmed:1427914 1q31.3 1 197434985T> C null M T 422 422 2.0E-4 missense 0.223 benign 0.03 deleterious 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs781705903 [ClinVar]: Retinitis pigmentosa 1q31.3 1 197434984A> G null M V 422 422 missense 0.696 possibly damaging 0.02 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000787580 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1357564499 1q31.3 1 197434991A> G null D G 424 424 missense 0.589 possibly damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs746380243 1q31.3 1 197434993C> A null P T 425 425 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1354300061 1q31.3 1 197435002C> T null Q * 428 428 stop gained 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1216899841 1q31.3 1 197435004G> C null Q H 428 428 missense 0.905 possibly damaging 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1312231109 1q31.3 1 197435011A> G null R G 431 431 missense 0.506 possibly damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1482942636 1q31.3 1 197435012G> A null R K 431 431 missense 0.015 benign 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1249210332 1q31.3 1 197435016G> A null W * 432 432 stop gained 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,TOPMed,gnomAD rs145799973 1q31.3 1 197435018A> G null Q R 433 433 missense 0.015 benign 0.49 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs763369093 1q31.3 1 197435020A> G null M V 434 434 missense 0.977 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs905261221 1q31.3 1 197435023G> C null E Q 435 435 missense 0.026 benign 0.47 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs766902941 1q31.3 1 197435024A> T null E V 435 435 missense 0.697 possibly damaging 0.37 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs727503889 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 1q31.3 1 197435029G> A null D N 437 437 missense 0.103 benign 0.04 deleterious 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs727503889 1q31.3 1 197435029G> T null D Y 437 437 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62636284 1q31.3 1 197435034C> G null N K 438 438 2.0E-4 missense 0.013 benign 0.19 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,dbSNP,gnomAD rs564754426 [ClinVar]: Inborn genetic diseases, [ClinVar]: Stargardt disease, [ClinVar]: Retinitis pigmentosa 12, [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q31.3 1 197435035G> T null E * 439 439 2.0E-4 stop gained 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000623037 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,dbSNP,gnomAD rs564754426 [ClinVar]: Inborn genetic diseases, [ClinVar]: Stargardt disease, [ClinVar]: Retinitis pigmentosa 12, [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q31.3 1 197435035G> T null E * 439 439 2.0E-4 stop gained 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001040018 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,dbSNP,gnomAD rs564754426 [ClinVar]: Inborn genetic diseases, [ClinVar]: Stargardt disease, [ClinVar]: Retinitis pigmentosa 12, [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q31.3 1 197435035G> T null E * 439 439 2.0E-4 stop gained 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001040018 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,dbSNP,gnomAD rs564754426 [ClinVar]: Inborn genetic diseases, [ClinVar]: Stargardt disease, [ClinVar]: Retinitis pigmentosa 12, [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q31.3 1 197435035G> T null E * 439 439 2.0E-4 stop gained 0 Stargardt disease (FFM) ClinVar:RCV000678549 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,gnomAD rs528822528 1q31.3 1 197435036A> G null E G 439 439 2.0E-4 missense 0.084 benign 0.22 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,NCI-TCGA,gnomAD rs564754426 NCI-TCGA Cosmic [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22622578,cosmic_study:388 1q31.3 1 197435035G> A null E K 439 439 2.0E-4 missense 0.04 benign 0.7 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs141758462 1q31.3 1 197435042C> T null P L 441 441 missense 0.197 benign 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs141758462 1q31.3 1 197435042C> G null P R 441 441 missense 0.522 possibly damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1553262995 1q31.3 1 197435056A> G null T A 446 446 missense 0.001 benign 0.88 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs774652559 1q31.3 1 197435059A> G null I V 447 447 missense 0.003 benign 1.0 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs886045787 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197435065A> G null T A 449 449 missense 0.063 benign 0.36 tolerated 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000390051 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs886045787 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197435065A> G null T A 449 449 missense 0.063 benign 0.36 tolerated 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV000300952 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs886045787 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa 1q31.3 1 197435065A> G null T A 449 449 missense 0.063 benign 0.36 tolerated 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000367381 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1452661857 1q31.3 1 197435066C> A null T N 449 449 missense 0.934 probably damaging 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1333751641 1q31.3 1 197435073C> A null S R 451 451 missense 0.628 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs398124614 1q31.3 1 197435074C> T null L F 452 452 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,dbSNP,gnomAD rs62635657 pubmed:10508521,pubmed:12573663 1q31.3 1 197435075T> C null L P 452 452 missense 1.0 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs758332743 1q31.3 1 197435078A> G null N S 453 453 missense 0.076 benign 0.1 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs758332743 1q31.3 1 197435078A> C null N T 453 453 missense 0.489 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs751303205 1q31.3 1 197435084T> C null L S 455 455 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs756738473 1q31.3 1 197435089G> A null D N 457 457 missense 0.812 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1415521873 1q31.3 1 197435092A> C null N H 458 458 missense 0.776 possibly damaging 0.1 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs535366722 1q31.3 1 197435095A> G null T A 459 459 missense 0.837 possibly damaging 0.22 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs535366722 1q31.3 1 197435095A> C null T P 459 459 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1200731853 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197435098G> A null D N 460 460 missense 0.103 benign 0.1 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs770192349 1q31.3 1 197435102T> C null I T 461 461 missense 0.739 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,gnomAD rs568002732 1q31.3 1 197435107G> A null V M 463 463 2.0E-4 missense 0.875 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs749624018 1q31.3 1 197435110G> T null G * 464 464 stop gained 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs749624018 1q31.3 1 197435110G> A null G R 464 464 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs774508464 1q31.3 1 197435114A> G null D G 465 465 missense 0.015 benign 0.98 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs769059111 1q31.3 1 197435113G> A null D N 465 465 missense 0.015 benign 0.24 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1333615793 1q31.3 1 197435120C> A null A D 467 467 missense 0.628 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs760102263 1q31.3 1 197435129A> G null N S 470 470 missense 0.019 benign 0.8 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs760865628 1q31.3 1 197435132T> C null I T 471 471 missense 0.0 benign 0.62 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs996284286 1q31.3 1 197435138G> A null G D 473 473 missense 0.98 probably damaging 0.09 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1402562231 1q31.3 1 197435137G> A null G S 473 473 missense 0.926 probably damaging 0.33 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1051901493 1q31.3 1 197435140C> G null L V 474 474 missense 0.492 possibly damaging 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs752719776 1q31.3 1 197435145A> C null Q H 475 475 missense 0.694 possibly damaging 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs751213257 1q31.3 1 197435147G> A null G E 476 476 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs764000496 1q31.3 1 197435146G> A null G R 476 476 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs62635659 [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Leber congenital amaurosis 8 (lca8) pubmed:11389483 pubmed:11389483 1q31.3 1 197435162T> G null I R 481 481 missense 0.947 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000006088 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs62635659 [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Leber congenital amaurosis 8 (lca8) pubmed:11389483 pubmed:11389483 1q31.3 1 197435162T> G null I R 481 481 missense 0.947 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs62635659 [Ensembl]: Leber congenital amaurosis 8 (lca8) pubmed:12843338,pubmed:15459956 1q31.3 1 197435162T> C null I T 481 481 missense 0.739 possibly damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1332051035 1q31.3 1 197435161A> G null I V 481 481 missense 0.04 benign 0.78 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1342376053 1q31.3 1 197435168T> C null I T 483 483 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs756878234 1q31.3 1 197435167A> G null I V 483 483 missense 0.987 probably damaging 0.05 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62636275 cosmic curated [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Leber congenital amaurosis, [Ensembl]: Leber congenital amaurosis 8 (lca8), [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [Cosmic]: lung pubmed:15024725,pubmed:17724218,pubmed:19140180,pubmed:20956273,pubmed:22065545 pubmed:15024725,pubmed:16543197,pubmed:19140180,pubmed:23525077,cosmic_study:418,cosmic_study:464 1q31.3 1 197435170G> A null G R 484 484 missense 0.835 possibly damaging 0.0 deleterious 1 Early-onset retinal dystrophy ClinVar:RCV000786009 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62636275 cosmic curated [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Leber congenital amaurosis, [Ensembl]: Leber congenital amaurosis 8 (lca8), [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [Cosmic]: lung pubmed:15024725,pubmed:17724218,pubmed:19140180,pubmed:20956273,pubmed:22065545 pubmed:15024725,pubmed:16543197,pubmed:19140180,pubmed:23525077,cosmic_study:418,cosmic_study:464 1q31.3 1 197435170G> A null G R 484 484 missense 0.835 possibly damaging 0.0 deleterious 1 Leber congenital amaurosis (LCA) MIM:PS204000 pubmed:20301475,ClinVar:RCV001002998 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62636275 cosmic curated [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Leber congenital amaurosis, [Ensembl]: Leber congenital amaurosis 8 (lca8), [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [Cosmic]: lung pubmed:15024725,pubmed:17724218,pubmed:19140180,pubmed:20956273,pubmed:22065545 pubmed:15024725,pubmed:16543197,pubmed:19140180,pubmed:23525077,cosmic_study:418,cosmic_study:464 1q31.3 1 197435170G> A null G R 484 484 missense 0.835 possibly damaging 0.0 deleterious 1 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000006093,ClinVar:RCV000648818 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62636275 cosmic curated [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Leber congenital amaurosis, [Ensembl]: Leber congenital amaurosis 8 (lca8), [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [Cosmic]: lung pubmed:15024725,pubmed:17724218,pubmed:19140180,pubmed:20956273,pubmed:22065545 pubmed:15024725,pubmed:16543197,pubmed:19140180,pubmed:23525077,cosmic_study:418,cosmic_study:464 1q31.3 1 197435170G> A null G R 484 484 missense 0.835 possibly damaging 0.0 deleterious 1 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62636275 cosmic curated [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Leber congenital amaurosis, [Ensembl]: Leber congenital amaurosis 8 (lca8), [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [Cosmic]: lung pubmed:15024725,pubmed:17724218,pubmed:19140180,pubmed:20956273,pubmed:22065545 pubmed:15024725,pubmed:16543197,pubmed:19140180,pubmed:23525077,cosmic_study:418,cosmic_study:464 1q31.3 1 197435170G> A null G R 484 484 missense 0.835 possibly damaging 0.0 deleterious 1 Retinal dystrophy ClinVar:RCV001073404 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62636275 cosmic curated [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Leber congenital amaurosis, [Ensembl]: Leber congenital amaurosis 8 (lca8), [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [Cosmic]: lung pubmed:15024725,pubmed:17724218,pubmed:19140180,pubmed:20956273,pubmed:22065545 pubmed:15024725,pubmed:16543197,pubmed:19140180,pubmed:23525077,cosmic_study:418,cosmic_study:464 1q31.3 1 197435170G> A null G R 484 484 missense 0.835 possibly damaging 0.0 deleterious 1 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000006094,ClinVar:RCV000648818 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62636275 cosmic curated [ClinVar]: Early-onset retinal dystrophy, [ClinVar]: Retinal dystrophy, [ClinVar]: Leber congenital amaurosis 8, [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Leber congenital amaurosis, [Ensembl]: Leber congenital amaurosis 8 (lca8), [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa 12, [Cosmic]: lung pubmed:15024725,pubmed:17724218,pubmed:19140180,pubmed:20956273,pubmed:22065545 pubmed:15024725,pubmed:16543197,pubmed:19140180,pubmed:23525077,cosmic_study:418,cosmic_study:464 1q31.3 1 197435170G> A null G R 484 484 missense 0.835 possibly damaging 0.0 deleterious 1 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs954823148 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197435173G> A null G S 485 485 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,gnomAD rs755692122 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197435176A> G null I V 486 486 missense 0.277 benign 0.12 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs115649214 1q31.3 1 197435180A> G null Y C 487 487 3.99E-4 missense 0.921 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,gnomAD rs115649214 1q31.3 1 197435180A> T null Y F 487 487 3.99E-4 missense 0.629 possibly damaging 0.13 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs62636276 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy pubmed:15024725,pubmed:20956273 1q31.3 1 197435183T> C null L P 488 488 missense 0.998 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001250617 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs62636276 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy pubmed:15024725,pubmed:20956273 1q31.3 1 197435183T> C null L P 488 488 missense 0.998 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs62636276 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Retinal dystrophy pubmed:15024725,pubmed:20956273 1q31.3 1 197435183T> C null L P 488 488 missense 0.998 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV001075774 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs62636276 [ClinVar]: Leber congenital amaurosis 8 pubmed:15024725,pubmed:28819299 1q31.3 1 197435183T> G null L R 488 488 missense 0.998 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001250629 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs62636276 [ClinVar]: Leber congenital amaurosis 8 pubmed:15024725,pubmed:28819299 1q31.3 1 197435183T> G null L R 488 488 missense 0.998 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs62636276 [ClinVar]: Leber congenital amaurosis 8 pubmed:15024725,pubmed:28819299 1q31.3 1 197435183T> G null L R 488 488 missense 0.998 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs62636277 1q31.3 1 197435194G> T null E * 492 492 stop gained 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1197854706 1q31.3 1 197435200G> A null V I 494 494 missense 0.057 benign 0.4 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1376159871 1q31.3 1 197435204A> T null H L 495 495 missense 0.015 benign 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs779253997 1q31.3 1 197435206G> T null G C 496 496 missense 0.915 probably damaging 0.09 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs779253997 1q31.3 1 197435206G> C null G R 496 496 missense 0.796 possibly damaging 0.17 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1160170943 1q31.3 1 197435218A> C null K Q 500 500 missense 0.725 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1419286489 1q31.3 1 197435219A> C null K T 500 500 missense 0.783 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1388065882 1q31.3 1 197435221C> T null P S 501 501 missense 0.96 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1388065882 1q31.3 1 197435221C> A null P T 501 501 missense 0.96 probably damaging 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs772169214 1q31.3 1 197435225A> G null Q R 502 502 missense 0.977 probably damaging 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1392028577 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197435227G> A null E K 503 503 missense 0.009 benign 0.26 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs376135634 1q31.3 1 197435235A> C null Q H 505 505 missense 0.807 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1299705675 1q31.3 1 197435233C> A null Q K 505 505 missense 0.18 benign 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1226422852 1q31.3 1 197435238T> A null F L 506 506 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149390998 NCI-TCGA Cosmic [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21499247,cosmic_study:348 1q31.3 1 197435239C> T null L F 507 507 missense 0.998 probably damaging 0.02 deleterious 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149390998 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 1q31.3 1 197435239C> A null L I 507 507 missense 0.994 probably damaging 0.24 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1014888402 1q31.3 1 197435240T> G null L R 507 507 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs775515998 1q31.3 1 197435243A> G null K R 508 508 missense 0.186 benign 0.26 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs763011436 1q31.3 1 197435249C> G null S C 510 510 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs763011436 1q31.3 1 197435249C> T null S F 510 510 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs763927373 1q31.3 1 197435254A> C null N H 512 512 missense 0.718 possibly damaging 0.09 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs767048382 1q31.3 1 197435261T> C null V A 514 514 missense 0.015 benign 0.43 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116246250 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197435260G> A null V M 514 514 2.0E-4 missense 0.903 possibly damaging 0.02 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000269228,ClinVar:RCV000945327 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116246250 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197435260G> A null V M 514 514 2.0E-4 missense 0.903 possibly damaging 0.02 deleterious 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV000383308 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116246250 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197435260G> A null V M 514 514 2.0E-4 missense 0.903 possibly damaging 0.02 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000326351 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116246250 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197435260G> A null V M 514 514 2.0E-4 missense 0.903 possibly damaging 0.02 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000945327 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP,gnomAD rs1045224692 1q31.3 1 197435263G> C null V L 515 515 missense 0.0 benign 1.0 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1369106131 1q31.3 1 197435270G> A null G D 517 517 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1166940272 1q31.3 1 197435269G> A null G S 517 517 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs368757240 1q31.3 1 197435280G> C null Q H 520 520 missense 0.467 possibly damaging 0.14 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs368757240 1q31.3 1 197435280G> T null Q H 520 520 missense 0.467 possibly damaging 0.14 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1342970033 1q31.3 1 197435282T> A null L * 521 521 stop gained 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs201380452 1q31.3 1 197435281T> G null L V 521 521 missense 0.011 benign 0.24 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1298836127 1q31.3 1 197435287G> A null V I 523 523 missense 0.034 benign 0.18 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1308267840 1q31.3 1 197435293A> C null N H 525 525 missense 0.007 benign 0.27 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs779453891 1q31.3 1 197435296T> C null S P 526 526 missense 0.06 benign 0.54 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs779453891 1q31.3 1 197435296T> A null S T 526 526 missense 0.808 possibly damaging 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs994881224 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197435300A> G null N S 527 527 missense 0.019 benign 0.27 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1034421454 1q31.3 1 197435303C> T null P L 528 528 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs150062546 1q31.3 1 197435310G> T null L F 530 530 missense 0.834 possibly damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372272372 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197435311C> A null H N 531 531 missense 0.497 possibly damaging 0.69 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1558138741 1q31.3 1 197435314G> T null G * 532 532 stop gained 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1037711937 1q31.3 1 197435330A> G null D G 537 537 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs374194344 1q31.3 1 197435329G> A null D N 537 537 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1251388318 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197435332A> T null I F 538 538 missense 0.003 benign 0.37 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1251388318 1q31.3 1 197435332A> G null I V 538 538 missense 0.001 benign 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs767827758 1q31.3 1 197435342C> G null S C 541 541 missense 0.949 probably damaging 0.13 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs767827758 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q31.3 1 197435342C> T null S F 541 541 missense 0.932 probably damaging 0.49 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs1414707912 pubmed:20108431 1q31.3 1 197435345A> G null Y C 542 542 missense 0.976 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs768713412 1q31.3 1 197435351G> T null C F 544 544 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs761492989 1q31.3 1 197435354C> T null S F 545 545 missense 0.127 benign 0.39 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs774390696 1q31.3 1 197435353T> A null S T 545 545 missense 0.006 benign 0.88 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs767368951 1q31.3 1 197435356T> C null C R 546 546 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs990628033 1q31.3 1 197435371T> A null S T 551 551 missense 0.101 benign 0.94 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs772701426 1q31.3 1 197435382C> G null H Q 554 554 missense 0.047 benign 0.18 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs772701426 1q31.3 1 197435382C> A null H Q 554 554 missense 0.047 benign 0.18 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs917768074 pubmed:20956273 1q31.3 1 197435383T> G null C G 555 555 missense 0.994 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs917768074 pubmed:20956273 1q31.3 1 197435383T> G null C G 555 555 missense 0.994 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs775745371 1q31.3 1 197435389C> T null L F 557 557 missense 0.014 benign 0.49 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs753331276 1q31.3 1 197435397C> G null I M 559 559 missense 0.642 possibly damaging 0.08 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs753093284 1q31.3 1 197435395A> G null I V 559 559 missense 0.001 benign 0.35 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,NCI-TCGA,gnomAD rs765700280 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q31.3 1 197435398G> A null D N 560 560 missense 0.998 probably damaging 0.17 tolerated 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs765700280 1q31.3 1 197435398G> T null D Y 560 560 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs149216103 1q31.3 1 197435401G> T null E * 561 561 stop gained 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs149216103 1q31.3 1 197435401G> A null E K 561 561 missense 0.99 probably damaging 0.16 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs149216103 1q31.3 1 197435401G> C null E Q 561 561 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs62636291 [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Retinitis pigmentosa 12 pubmed:11389483 pubmed:11389483 1q31.3 1 197435404T> C null C R 562 562 missense 0.999 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000006091 A0A075B6G4 CRB1 Protein crumbs homolog 1 dbSNP,gnomAD rs62636291 [Ensembl]: Retinitis pigmentosa 12 (rp12), [ClinVar]: Retinitis pigmentosa 12 pubmed:11389483 pubmed:11389483 1q31.3 1 197435404T> C null C R 562 562 missense 0.999 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 12 (RP12) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. MIM:600105 pubmed:10508521,pubmed:11389483,pubmed:11559858,pubmed:12573663,pubmed:12843338,pubmed:15459956,pubmed:19140180,pubmed:19956407,pubmed:20591486,pubmed:20956273,pubmed:21987686,pubmed:22065545,pubmed:22128245,pubmed:22334370,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs62636291 [Ensembl]: Retinitis pigmentosa 12 (rp12) 1q31.3 1 197435404T> A null C S 562 562 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1273697509 1q31.3 1 197435416C> T null P S 566 566 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs890365853 1q31.3 1 197435423T> A null I N 568 568 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed rs371586216 1q31.3 1 197435422A> G null I V 568 568 missense 0.033 benign 0.65 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs376271122 1q31.3 1 197435427T> A null H Q 569 569 missense 0.93 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1212583212 1q31.3 1 197435425C> T null H Y 569 569 missense 0.041 benign 0.05 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1482970538 cosmic curated [Cosmic]: central_nervous_system, [Cosmic]: lung pubmed:23856246,cosmic_study:504 1q31.3 1 197435429G> T null G V 570 570 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs936323366 1q31.3 1 197435440G> C null D H 574 574 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1558138977 1q31.3 1 197435446G> C null V L 576 576 missense 0.023 benign 0.35 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1180152805 1q31.3 1 197435452G> C null A P 578 578 missense 0.953 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs745915691 1q31.3 1 197435453C> T null A V 578 578 missense 0.891 possibly damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs756298756 1q31.3 1 197435455T> C null Y H 579 579 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs368991071 1q31.3 1 197435459A> G null H R 580 580 missense 0.007 benign 0.28 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1416459017 1q31.3 1 197435468G> A null C Y 583 583 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs748149690 1q31.3 1 197435473C> T null P S 585 585 missense 0.732 possibly damaging 0.11 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl,dbSNP rs62636279 1q31.3 1 197435477G> A null G E 586 586 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs574742644 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:11231775 cosmic_study:419 1q31.3 1 197435476G> A null G R 586 586 2.0E-4 missense 1.0 probably damaging 0.02 deleterious 1 Leber congenital amaurosis 8 (LCA8) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613835 pubmed:11231775,pubmed:11389483,pubmed:12567265,pubmed:12573663,pubmed:12700176,pubmed:12843338,pubmed:15024725,pubmed:15459956,pubmed:15691574,pubmed:16205573,pubmed:16936081,pubmed:17128490,pubmed:17438615,pubmed:17724218,pubmed:18055821,pubmed:18682808,pubmed:20108431,pubmed:20956273,pubmed:21602930,pubmed:28819299 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1334175594 1q31.3 1 197435483C> A null T N 588 588 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs773073634 1q31.3 1 197435486G> A null G D 589 589 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1167318922 1q31.3 1 197435489T> C null V A 590 590 missense 0.492 possibly damaging 0.16 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,gnomAD rs201349525 1q31.3 1 197435488G> A null V M 590 590 3.99E-4 missense 0.965 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs759022743 1q31.3 1 197435500G> C null V L 594 594 missense 0.012 benign 0.3 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs764745902 1q31.3 1 197435503G> A null D N 595 595 missense 0.0 benign 0.2 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs763516726 1q31.3 1 197435508A> G null I M 596 596 missense 0.015 benign 0.12 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1201987849 1q31.3 1 197435507T> C null I T 596 596 missense 0.005 benign 0.1 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs753102573 1q31.3 1 197435506A> G null I V 596 596 missense 0.0 benign 0.86 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs968499207 1q31.3 1 197435515T> G null C G 599 599 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs968499207 1q31.3 1 197435515T> A null C S 599 599 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,dbSNP rs1450635782 [ClinVar]: Leber congenital amaurosis 1 1q31.3 1 197435516G> A null C Y 599 599 missense 0.997 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 1 (LCA1) Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. MIM:204000 pubmed:20301475,pubmed:30285347,ClinVar:RCV000986496 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1479225334 1q31.3 1 197435519A> G null Q R 600 600 missense 0.0 benign 0.49 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs377217637 1q31.3 1 197435533G> A null A T 605 605 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs757740068 [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197435539G> T null G * 607 607 stop gained 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV001064730 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs757740068 [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197435539G> T null G * 607 607 stop gained 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000504976 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,dbSNP,gnomAD rs757740068 [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197435539G> T null G * 607 607 stop gained 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV001064730 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1214553317 1q31.3 1 197435540G> A null G E 607 607 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs757740068 1q31.3 1 197435539G> A null G R 607 607 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs147924782 1q31.3 1 197435546C> A null T N 609 609 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs147924782 1q31.3 1 197435546C> G null T S 609 609 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1031415706 1q31.3 1 197435549G> C null C S 610 610 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1370436625 1q31.3 1 197435553T> G null I M 611 611 missense 0.106 benign 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1301603175 1q31.3 1 197435554A> T null S C 612 612 missense 0.635 possibly damaging 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142090517 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197435558A> G null H R 613 613 2.0E-4 missense 0.009 benign 0.01 deleterious 0 Leber congenital amaurosis 8 (LCA8) MIM:613835 pubmed:20301475,pubmed:30285347,ClinVar:RCV000320691,ClinVar:RCV000964610 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142090517 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197435558A> G null H R 613 613 2.0E-4 missense 0.009 benign 0.01 deleterious 0 Pigmented paravenous chorioretinal atrophy (PPCRA) MIM:172870 ClinVar:RCV000272687 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142090517 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197435558A> G null H R 613 613 2.0E-4 missense 0.009 benign 0.01 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000377313 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142090517 [ClinVar]: Leber congenital amaurosis 8, [ClinVar]: Pigmented paravenous chorioretinal atrophy, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Retinitis pigmentosa 12 1q31.3 1 197435558A> G null H R 613 613 2.0E-4 missense 0.009 benign 0.01 deleterious 0 Retinitis pigmentosa 12 (RP12) MIM:600105 pubmed:20301590,ClinVar:RCV000964610 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1319815178 1q31.3 1 197435560A> G null T A 614 614 missense 0.0 benign 0.45 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs78471980 1q31.3 1 197435576G> T null C F 619 619 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs772032607 1q31.3 1 197435575T> C null C R 619 619 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs753941757 1q31.3 1 197435578C> T null L F 620 620 missense 0.296 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs746774206 1q31.3 1 197435590A> C null N H 624 624 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs770760444 1q31.3 1 197435592T> G null N K 624 624 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs746774206 1q31.3 1 197435590A> T null N Y 624 624 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs776214616 1q31.3 1 197435594T> G null F C 625 625 missense 0.797 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1558139271 1q31.3 1 197435596A> G null T A 626 626 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,gnomAD rs373634005 1q31.3 1 197435597C> T null T I 626 626 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1222907981 1q31.3 1 197435602A> G null K E 628 628 missense 0.084 benign 0.1 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1487701966 1q31.3 1 197435609G> A null C Y 630 630 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs777741268 1q31.3 1 197438549A> G null Q R 632 632 missense 0.0 benign 0.33 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,gnomAD rs192412647 1q31.3 1 197438555G> A null R K 634 634 2.0E-4 missense 0.321 benign 0.36 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs200163174 1q31.3 1 197438557T> A null L I 635 635 missense 0.721 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs757003465 1q31.3 1 197438560C> T null P S 636 636 missense 0.03 benign 0.05 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs757003465 1q31.3 1 197438560C> A null P T 636 636 missense 0.457 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs780967467 1q31.3 1 197438580T> A null N K 642 642 missense 0.053 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 Ensembl rs1007094417 1q31.3 1 197438581G> A null E K 643 643 missense 0.018 benign 0.08 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1284147743 1q31.3 1 197438588C> G null T R 645 645 missense 0.003 benign 1.0 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs1431315290 1q31.3 1 197438593C> A null L I 647 647 missense 0.2 benign 0.18 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs751557033 1q31.3 1 197438597C> T null T I 648 648 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1275856765 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197438603A> G null Y C 650 650 missense 0.188 benign 0.05 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs769470567 1q31.3 1 197438602T> C null Y H 650 650 missense 0.982 probably damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1341878632 1q31.3 1 197438605A> G null N D 651 651 missense 0.419 benign 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ESP,ExAC,TOPMed,gnomAD rs138667698 1q31.3 1 197438606A> G null N S 651 651 missense 0.346 benign 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed,gnomAD rs1443651380 1q31.3 1 197438616C> A null N K 654 654 missense 0.343 benign 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1198586136 1q31.3 1 197438619C> A null C * 655 655 stop gained 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs768075194 1q31.3 1 197438618G> A null C Y 655 655 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,gnomAD rs551798394 1q31.3 1 197438620A> G null T A 656 656 2.0E-4 missense 0.197 benign 0.04 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,NCI-TCGA,gnomAD rs551798394 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 197438620A> C null T P 656 656 2.0E-4 missense 0.715 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,TOPMed,gnomAD rs138089138 1q31.3 1 197438621C> G null T R 656 656 2.0E-4 missense 0.647 possibly damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs773698624 1q31.3 1 197438624A> T null E V 657 657 missense 0.014 benign 0.01 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1428792440 1q31.3 1 197438626T> G null F V 658 658 missense 0.0 benign 0.38 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs901451598 1q31.3 1 197438633C> T null T I 660 660 missense 0.023 benign 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs761010559 1q31.3 1 197438640A> C null L F 662 662 missense 0.007 benign 0.22 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 TOPMed rs938864433 1q31.3 1 197438649G> A null M I 665 665 missense 0.006 benign 0.39 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs766592082 1q31.3 1 197438647A> G null M V 665 665 missense 0.0 benign 0.51 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 gnomAD rs1333637287 1q31.3 1 197438652C> G null C W 666 666 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs755035239 1q31.3 1 197438654G> A null R Q 667 667 missense 0.459 possibly damaging 0.47 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed,gnomAD rs754054234 1q31.3 1 197438653C> T null R W 667 667 missense 0.003 benign 0.21 tolerated 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs751428735 1q31.3 1 197438657C> T null P L 668 668 missense 0.462 possibly damaging 0.03 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 1000Genomes,ExAC,gnomAD rs533997742 1q31.3 1 197438660G> A null G D 669 669 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed rs781160733 1q31.3 1 197438662T> A null F I 670 670 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,TOPMed rs781160733 1q31.3 1 197438662T> C null F L 670 670 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6G4 CRB1 Protein crumbs homolog 1 ExAC,gnomAD rs748927280 1q31.3 1 197438676G> A null W * 674 674 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1481485420 1q21.2 1 149477984G> T null R M 3 3 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1233186591 1q21.2 1 149477992C> T null R * 6 6 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1233186591 1q21.2 1 149477992C> G null R G 6 6 missense 0.35 benign 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1345945320 1q21.2 1 149477993G> T null R L 6 6 missense 0.003 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1345945320 1q21.2 1 149477993G> C null R P 6 6 missense 0.116 benign 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1345945320 1q21.2 1 149477993G> A null R Q 6 6 missense 0.015 benign 0.1 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1373219625 1q21.2 1 149478017C> A null A E 14 14 missense 0.542 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1302560266 1q21.2 1 149478016G> T null A S 14 14 missense 0.653 possibly damaging 0.08 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1302560266 1q21.2 1 149478016G> A null A T 14 14 missense 0.413 benign 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1314219989 1q21.2 1 149478023A> G null Q R 16 16 missense 0.458 possibly damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1363217290 1q21.2 1 149478025C> G null L V 17 17 missense 0.882 possibly damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1408482360 1q21.2 1 149478035C> G null A G 20 20 missense 0.978 probably damaging 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1484841257 1q21.2 1 149478039G> T null E D 21 21 missense 0.219 benign 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1186899164 1q21.2 1 149478037G> A null E K 21 21 missense 0.559 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1259835838 1q21.2 1 149478042G> T null E D 22 22 missense 0.77 possibly damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1487995983 1q21.2 1 149478047G> C null R T 24 24 missense 0.885 possibly damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1332610804 1q21.2 1 149478890G> A null V I 28 28 missense 0.316 benign 0.05 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1323922608 1q21.2 1 149478896T> G null F V 30 30 missense 0.0 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1394567564 1q21.2 1 149478906A> G null Q R 33 33 missense 0.734 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1310007009 1q21.2 1 149478909A> T null E V 34 34 missense 0.62 possibly damaging 0.1 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1430473433 1q21.2 1 149478911C> T null R * 35 35 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1374871653 1q21.2 1 149478912G> A null R Q 35 35 missense 0.18 benign 0.08 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1172326033 1q21.2 1 149478914G> A null E K 36 36 missense 0.279 benign 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1378600297 1q21.2 1 149478921C> T null T I 38 38 missense 0.17 benign 0.11 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1418187490 1q21.2 1 149478937G> T null K N 43 43 missense 0.236 benign 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1206748274 1q21.2 1 149478942G> A null R Q 45 45 missense 0.055 benign 0.21 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1249153636 1q21.2 1 149478941C> T null R W 45 45 missense 0.063 benign 0.11 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1198691121 1q21.2 1 149478962C> T null R C 52 52 missense 0.04 benign 0.2 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1346974019 1q21.2 1 149478963G> T null R L 52 52 missense 0.059 benign 0.54 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1346974019 1q21.2 1 149478963G> C null R P 52 52 missense 0.854 possibly damaging 0.11 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1238059927 1q21.2 1 149478969T> G null L W 54 54 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1348926106 1q21.2 1 149478978A> G null H R 57 57 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1290460177 1q21.2 1 149478980C> A null L I 58 58 missense 0.236 benign 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1354940494 1q21.2 1 149478995A> T null T S 63 63 missense 0.316 benign 0.1 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1416697125 1q21.2 1 149478999C> T null P L 64 64 missense 0.042 benign 0.16 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1311094869 1q21.2 1 149478998C> T null P S 64 64 missense 0.183 benign 0.05 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1183904185 1q21.2 1 149479003T> A null D E 65 65 missense 0.548 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1452057843 1q21.2 1 149479002A> G null D G 65 65 missense 0.548 possibly damaging 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1452057843 1q21.2 1 149479002A> T null D V 65 65 missense 0.572 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1158415608 1q21.2 1 149479001G> T null D Y 65 65 missense 0.056 benign 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1472690089 1q21.2 1 149479008C> T null P L 67 67 missense 0.019 benign 0.12 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1444131545 1q21.2 1 149479012C> G null D E 68 68 missense 0.355 benign 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1279228054 1q21.2 1 149479023G> A null G E 72 72 missense 0.118 benign 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1326825391 1q21.2 1 149479025C> T null Q * 73 73 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1229271410 1q21.2 1 149479028G> A null D N 74 74 missense 0.885 possibly damaging 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1355038928 1q21.2 1 149479036A> T null Q H 76 76 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1341647820 1q21.2 1 149479041A> T null Q L 78 78 missense 0.078 benign 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1433443172 1q21.2 1 149479043C> G null L V 79 79 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1391326927 1q21.2 1 149479046G> A null A T 80 80 missense 0.449 possibly damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1160298467 1q21.2 1 149479047C> T null A V 80 80 missense 0.646 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1473501640 1q21.2 1 149479056G> A null C Y 83 83 missense 0.25 benign 0.29 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1237487565 1q21.2 1 149479062T> G null L R 85 85 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1463452341 1q21.2 1 149479072C> A null H Q 88 88 missense 0.061 benign 0.38 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1249717431 1q21.2 1 149479073C> T null L F 89 89 missense 0.492 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1209092907 1q21.2 1 149479076G> A null V I 90 90 missense 0.203 benign 0.13 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1209092907 1q21.2 1 149479076G> C null V L 90 90 missense 0.131 benign 0.09 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1357145521 1q21.2 1 149479080A> G null Q R 91 91 missense 0.155 benign 0.52 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1269627675 1q21.2 1 149479084G> T null K N 92 92 missense 0.577 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1226869765 1q21.2 1 149479085C> G null L V 93 93 missense 0.834 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1367946398 1q21.2 1 149479088A> T null S C 94 94 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1321723156 1q21.2 1 149479092C> T null P L 95 95 missense 0.661 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1321723156 1q21.2 1 149479092C> G null P R 95 95 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1227848649 1q21.2 1 149480142A> G null E G 96 96 missense 0.045 benign 0.05 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1392428854 1q21.2 1 149480153G> A null D N 100 100 missense 0.748 possibly damaging 0.09 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs4950572 1q21.2 1 149480156G> C null D H 101 101 missense 0.033 benign 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1301426943 1q21.2 1 149480159G> A null D N 102 102 missense 0.08 benign 0.15 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1467965067 1q21.2 1 149480177G> A null E K 108 108 missense 0.73 possibly damaging 0.08 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1430953381 1q21.2 1 149480181T> G null V G 109 109 missense 0.312 benign 0.08 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1176635375 1q21.2 1 149480183G> T null A S 110 110 missense 0.492 possibly damaging 0.18 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1471983348 1q21.2 1 149480186G> A null E K 111 111 missense 0.932 probably damaging 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1361519555 1q21.2 1 149480189A> G null K E 112 112 missense 0.172 benign 0.09 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1183935794 1q21.2 1 149480192G> T null V L 113 113 missense 0.03 benign 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1201531457 1q21.2 1 149480207G> T null A S 118 118 missense 0.02 benign 0.05 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1462869699 1q21.2 1 149480210C> T null P S 119 119 missense 0.612 possibly damaging 0.14 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1423268439 1q21.2 1 149480683A> G null M V 122 122 missense 0.003 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs9441421 1q21.2 1 149480687A> C null Q P 123 123 missense 0.08 benign 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1260626720 1q21.2 1 149480719T> C null S P 134 134 missense 0.747 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1486580599 1q21.2 1 149480731T> C null C R 138 138 missense 0.986 probably damaging 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1263220368 1q21.2 1 149480734G> A null A T 139 139 missense 0.977 probably damaging 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1221708232 1q21.2 1 149480741C> T null T I 141 141 missense 0.493 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs11488537 1q21.2 1 149480744A> G null Y C 142 142 missense 0.001 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1362806624 1q21.2 1 149480775C> G null N K 152 152 missense 0.669 possibly damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1403713928 1q21.2 1 149480778G> T null Q H 153 153 missense 0.998 probably damaging 0.05 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1302597253 1q21.2 1 149480777A> C null Q P 153 153 missense 0.997 probably damaging 0.09 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1367991702 1q21.2 1 149480779C> T null P S 154 154 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1304225770 1q21.2 1 149480783A> G null H R 155 155 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs71241907 1q21.2 1 149480786G> A null R K 156 156 missense 0.023 benign 0.18 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1371659014 1q21.2 1 149480792C> A null T N 158 158 missense 0.09 benign 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1167910776 1q21.2 1 149480797A> G null I V 160 160 missense 0.761 possibly damaging 0.06 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1429906051 1q21.2 1 149480801C> T null T I 161 161 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1429906051 1q21.2 1 149480801C> A null T K 161 161 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1270966948 1q21.2 1 149480817A> T null K N 166 166 missense 0.244 benign 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1480198042 1q21.2 1 149480821G> A null D N 168 168 missense 0.267 benign 0.16 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1249377566 1q21.2 1 149480825C> G null S * 169 169 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs1553665013 1q21.2 1 149480827A> G null T A 170 170 missense 0.051 benign 0.52 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1229943153 1q21.2 1 149480828C> T null T I 170 170 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1308299392 1q21.2 1 149480830C> T null L F 171 171 missense 0.493 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1221782040 1q21.2 1 149480840C> T null S L 174 174 missense 0.736 possibly damaging 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1284521188 1q21.2 1 149480843C> T null S F 175 175 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1391273800 1q21.2 1 149480845T> C null S P 176 176 missense 0.088 benign 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1394848549 1q21.2 1 149480851G> A null V I 178 178 missense 0.034 benign 0.39 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1463252939 1q21.2 1 149480860G> C null E Q 181 181 missense 0.172 benign 0.27 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1400591371 1q21.2 1 149480866G> A null A T 183 183 missense 0.852 possibly damaging 0.08 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1175182879 1q21.2 1 149480878A> T null I F 187 187 missense 0.051 benign 0.15 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs9441419 1q21.2 1 149480880T> G null I M 187 187 missense 0.875 possibly damaging 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1178811482 1q21.2 1 149482186G> C null D H 193 193 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1235209686 1q21.2 1 149482195G> A null E K 196 196 missense 0.285 benign 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1212236020 1q21.2 1 149482198G> A null E K 197 197 missense 0.237 benign 0.05 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1212236020 1q21.2 1 149482198G> C null E Q 197 197 missense 0.237 benign 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1237693673 1q21.2 1 149482216G> A null V M 203 203 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1475711693 1q21.2 1 149486152G> A null E K 214 214 missense 0.917 probably damaging 0.5 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1196524134 1q21.2 1 149486156A> G null E G 215 215 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1376955667 1q21.2 1 149486155G> A null E K 215 215 missense 0.968 probably damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1482160285 1q21.2 1 149486189C> T null S L 226 226 missense 0.139 benign 0.81 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1344963580 1q21.2 1 149486194C> G null L V 228 228 missense 0.305 benign 0.51 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1254746521 1q21.2 1 149486207C> T null P L 232 232 missense 0.327 benign 0.72 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1225797404 1q21.2 1 149486213T> G null M R 234 234 missense 0.005 benign 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1288043505 1q21.2 1 149486222C> T null S L 237 237 missense 0.155 benign 0.08 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1330339686 1q21.2 1 149486229G> T null Q H 239 239 missense 0.894 possibly damaging 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs9438336 1q21.2 1 149486227C> A null Q K 239 239 missense 0.019 benign 0.18 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs3871941 1q21.2 1 149486239A> T null S C 243 243 missense 0.981 probably damaging 0.06 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs3871941 1q21.2 1 149486239A> G null S G 243 243 missense 0.075 benign 0.28 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1470873879 1q21.2 1 149486250C> A null H Q 246 246 missense 0.947 probably damaging 0.26 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1429744126 1q21.2 1 149486255T> C null L S 248 248 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1158073654 1q21.2 1 149486258A> G null E G 249 249 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1471746937 1q21.2 1 149486263C> T null Q * 251 251 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1441903968 1q21.2 1 149486269G> A null V I 253 253 missense 0.835 possibly damaging 0.09 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1254769367 1q21.2 1 149486279C> A null A D 256 256 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1206125508 1q21.2 1 149486285A> G null D G 258 258 missense 0.986 probably damaging 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1324821780 1q21.2 1 149486287A> G null I V 259 259 missense 0.219 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs7515521 1q21.2 1 149486293A> G null R G 261 261 missense 0.03 benign 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1398314634 1q21.2 1 149487332G> A null R K 261 261 missense 0.09 benign 0.14 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs7535142 1q21.2 1 149487334C> T null H Y 262 262 missense 0.062 benign 0.92 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1362557430 1q21.2 1 149487337C> T null R C 263 263 missense 0.961 probably damaging 0.11 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1159285890 1q21.2 1 149487338G> A null R H 263 263 missense 0.926 probably damaging 0.48 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1241822541 1q21.2 1 149487341G> A null W * 264 264 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1192040548 1q21.2 1 149487342G> A null W * 264 264 missense 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1165417776 1q21.2 1 149487340T> G null W G 264 264 missense 0.018 benign 0.26 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1165417776 1q21.2 1 149487340T> A null W R 264 264 missense 0.443 benign 0.25 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs9424765 1q21.2 1 149487343G> A null D N 265 265 missense 0.261 benign 0.2 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1487074770 1q21.2 1 149487346C> G null Q E 266 266 missense 0.155 benign 0.54 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1487074770 1q21.2 1 149487346C> A null Q K 266 266 missense 0.155 benign 0.1 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1216665556 1q21.2 1 149487347A> C null Q P 266 266 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1358705058 1q21.2 1 149487349G> C null V L 267 267 missense 0.155 benign 0.19 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1287630428 1q21.2 1 149487358G> A null E K 270 270 missense 0.917 probably damaging 0.17 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1229890558 1q21.2 1 149487363C> A null D E 271 271 missense 0.421 benign 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1356796667 1q21.2 1 149487364C> G null Q E 272 272 missense 0.007 benign 0.09 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs1553710490 1q21.2 1 149487366A> C null Q H 272 272 missense 0.007 benign 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1269320678 1q21.2 1 149487370G> A null A T 274 274 missense 0.644 possibly damaging 0.52 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1217065973 1q21.2 1 149487376G> T null G C 276 276 missense 0.127 benign 0.28 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1217065973 1q21.2 1 149487376G> A null G S 276 276 missense 0.32 benign 0.52 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1298930143 1q21.2 1 149487379C> G null P A 277 277 missense 0.835 possibly damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1404393980 1q21.2 1 149487380C> T null P L 277 277 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1348714301 1q21.2 1 149487382A> G null R G 278 278 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1349568617 1q21.2 1 149488014C> A null L I 279 279 missense 0.992 probably damaging 0.08 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1238724528 1q21.2 1 149488018G> A null S N 280 280 missense 0.986 probably damaging 0.16 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1275107680 1q21.2 1 149488017A> C null S R 280 280 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1309707109 1q21.2 1 149488029C> A null L M 284 284 missense 0.998 probably damaging 0.12 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1410969990 1q21.2 1 149488032G> A null D N 285 285 missense 0.622 possibly damaging 0.11 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1355447485 1q21.2 1 149488035G> A null E K 286 286 missense 0.885 possibly damaging 0.74 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1311123448 1q21.2 1 149488042G> A null G E 288 288 missense 0.045 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1158233966 1q21.2 1 149488051T> A null V D 291 291 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1452710640 1q21.2 1 149488055G> C null L F 292 292 missense 0.075 benign 0.16 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1361851631 1q21.2 1 149488057A> G null Q R 293 293 missense 0.98 probably damaging 0.06 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1256777241 1q21.2 1 149488062T> C null S P 295 295 missense 0.993 probably damaging 0.06 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1185110962 1q21.2 1 149488066T> A null L Q 296 296 missense 0.172 benign 0.06 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1262850985 1q21.2 1 149488070T> G null D E 297 297 missense 0.795 possibly damaging 0.09 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1204194048 1q21.2 1 149488069A> G null D G 297 297 missense 0.855 possibly damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1486381292 1q21.2 1 149488068G> C null D H 297 297 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1204194048 1q21.2 1 149488069A> T null D V 297 297 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1486381292 1q21.2 1 149488068G> T null D Y 297 297 missense 0.101 benign 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1229451917 1q21.2 1 149488072G> C null R T 298 298 missense 0.991 probably damaging 0.05 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1334734655 1q21.2 1 149488074T> A null C S 299 299 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1416642750 1q21.2 1 149488077T> C null Y H 300 300 missense 0.998 probably damaging 0.09 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1380737476 1q21.2 1 149488086C> G null P A 303 303 missense 0.997 probably damaging 0.15 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1161075060 1q21.2 1 149488096G> T null C F 306 306 missense 0.192 benign 0.62 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1387483033 1q21.2 1 149488095T> C null C R 306 306 missense 0.713 possibly damaging 0.3 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1161075060 1q21.2 1 149488096G> A null C Y 306 306 missense 0.012 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1417018176 1q21.2 1 149488101G> C null E Q 308 308 missense 0.771 possibly damaging 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1475866309 1q21.2 1 149488107A> T null T S 310 310 missense 0.774 possibly damaging 0.39 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1191922770 1q21.2 1 149488116T> C null C R 313 313 missense 0.997 probably damaging 0.26 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1444901958 1q21.2 1 149488117G> C null C S 313 313 missense 0.991 probably damaging 0.3 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1209709434 1q21.2 1 149488122C> A null P T 315 315 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1468335856 1q21.2 1 149488125T> G null Y D 316 316 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1271757189 1q21.2 1 149488131A> G null S G 318 318 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1235682814 1q21.2 1 149488132G> A null S N 318 318 missense 0.986 probably damaging 0.06 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1357752805 1q21.2 1 149488134G> A null A T 319 319 missense 0.827 possibly damaging 0.67 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1269654532 1q21.2 1 149488135C> T null A V 319 319 missense 0.932 probably damaging 0.14 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1328389764 1q21.2 1 149488138T> G null F C 320 320 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1393468817 1q21.2 1 149488143G> A null V I 322 322 missense 0.08 benign 0.29 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1393468817 1q21.2 1 149488143G> C null V L 322 322 missense 0.413 benign 0.25 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1166777148 1q21.2 1 149488147T> A null L * 323 323 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1414508725 1q21.2 1 149488146T> A null L M 323 323 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1474159899 1q21.2 1 149488149G> A null E K 324 324 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1474159899 1q21.2 1 149488149G> C null E Q 324 324 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1188815359 1q21.2 1 149488152C> G null Q E 325 325 missense 0.076 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1251517300 1q21.2 1 149488154A> C null Q H 325 325 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1188815359 1q21.2 1 149488152C> A null Q K 325 325 missense 0.712 possibly damaging 0.13 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1216002100 1q21.2 1 149488155C> T null Q * 326 326 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1216002100 1q21.2 1 149488155C> A null Q K 326 326 missense 0.076 benign 0.34 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1194107280 1q21.2 1 149488158C> T null R C 327 327 missense 0.954 probably damaging 0.06 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1341582511 1q21.2 1 149488159G> A null R H 327 327 missense 0.014 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1341582511 1q21.2 1 149488159G> C null R P 327 327 missense 0.946 probably damaging 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1233846272 1q21.2 1 149488161G> T null V F 328 328 missense 0.925 probably damaging 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1300956346 1q21.2 1 149488165G> C null G A 329 329 missense 0.92 probably damaging 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1369132154 1q21.2 1 149488164G> A null G S 329 329 missense 0.979 probably damaging 0.55 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1438395224 1q21.2 1 149488168T> A null L * 330 330 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1350360484 1q21.2 1 149488169G> C null L F 330 330 missense 0.03 benign 0.27 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1407653738 1q21.2 1 149488171C> A null A D 331 331 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1407653738 1q21.2 1 149488171C> T null A V 331 331 missense 0.79 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1193250591 1q21.2 1 149488173A> C null I L 332 332 missense 0.001 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1232753385 1q21.2 1 149488175T> G null I M 332 332 missense 0.314 benign 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1193250591 1q21.2 1 149488173A> G null I V 332 332 missense 0.001 benign 0.2 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1180298075 1q21.2 1 149488177A> T null D V 333 333 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1484363354 1q21.2 1 149488181G> A null M I 334 334 missense 0.051 benign 0.11 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1484363354 1q21.2 1 149488181G> C null M I 334 334 missense 0.051 benign 0.11 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs201801399 1q21.2 1 149518181C> T null T I 377 377 missense 0.702 possibly damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs199902768 1q21.2 1 149518275C> G null D E 408 408 missense 0.753 possibly damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1553784032 1q21.2 1 149519028G> A null G D 423 423 missense 0.0 benign 0.5 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1376347283 1q21.2 1 149519704C> G null L V 434 434 missense 0.567 possibly damaging 0.11 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs368581635 1q21.2 1 149519711T> C null V A 436 436 missense 0.005 benign 0.48 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs372349069 1q21.2 1 149519795A> T null Q L 464 464 missense 0.145 benign 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1361928480 1q21.2 1 149519814T> G null F L 470 470 missense 0.916 probably damaging 0.3 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1183925144 1q21.2 1 149519816A> G null Y C 471 471 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1256193495 1q21.2 1 149519854G> A null V M 484 484 missense 0.0 benign 0.11 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1278891571 1q21.2 1 149520628G> A null E K 504 504 missense 0.0 benign 0.9 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1334227266 1q21.2 1 149521361G> C null L F 536 536 missense 0.0 unknown 0.08 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1291556598 1q21.2 1 149521364G> T null Q H 537 537 missense 0.0 unknown 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1235363572 1q21.2 1 149521381G> T null C F 543 543 missense 0.0 unknown 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1341355594 1q21.2 1 149521393C> A null P H 547 547 missense 0.0 unknown 0.55 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1313088204 1q21.2 1 149521402G> A null C Y 550 550 missense 0.0 unknown 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1381441619 1q21.2 1 149521410C> A null L M 553 553 missense 0.0 unknown 0.21 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1322488053 1q21.2 1 149521471G> C null G A 573 573 missense 0.0 unknown 0.36 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1457746745 1q21.2 1 149521474T> G null L W 574 574 missense 0.0 unknown 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1389307824 1q21.2 1 149522250C> T null P L 593 593 missense 0.518 possibly damaging 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1156855374 1q21.2 1 149526070G> C null R S 597 597 missense 0.402 benign 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1473628075 1q21.2 1 149526095A> C null K Q 606 606 missense 0.607 possibly damaging 0.1 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1295949685 1q21.2 1 149526991G> A null D N 665 665 missense 0.728 possibly damaging 0.09 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1437886880 1q21.2 1 149527004C> G null S * 669 669 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1169747181 1q21.2 1 149527663T> C null S P 689 689 missense 0.283 benign 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1478025669 1q21.2 1 149527676G> T null C F 693 693 missense 0.015 benign 0.16 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1375985485 1q21.2 1 149527682C> T null S L 695 695 missense 0.999 probably damaging 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs201978980 1q21.2 1 149527685C> T null T I 696 696 missense 0.462 possibly damaging 0.05 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1452329227 1q21.2 1 149527702G> C null E Q 702 702 missense 0.958 probably damaging 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1251397964 1q21.2 1 149527751A> G null E G 718 718 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1204115020 1q21.2 1 149527753G> A null E K 719 719 missense 0.661 possibly damaging 0.1 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1276597978 1q21.2 1 149527770G> C null L F 724 724 missense 0.493 possibly damaging 0.31 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1344241343 1q21.2 1 149527780G> A null V M 728 728 missense 0.151 benign 0.14 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1264571216 1q21.2 1 149528499T> C null I T 731 731 missense 0.172 benign 0.18 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1242376638 1q21.2 1 149528508A> G null D G 734 734 missense 0.909 probably damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1361441752 1q21.2 1 149528510C> G null Q E 735 735 missense 0.075 benign 0.1 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1362394182 1q21.2 1 149528515A> C null E D 736 736 missense 0.956 probably damaging 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1227619870 1q21.2 1 149528513G> A null E K 736 736 missense 0.971 probably damaging 0.23 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1319783842 1q21.2 1 149528524A> C null E D 739 739 missense 0.968 probably damaging 0.06 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1382380939 1q21.2 1 149528532G> A null G D 742 742 missense 0.075 benign 0.93 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1287266379 1q21.2 1 149529178A> T null S C 749 749 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1222325698 1q21.2 1 149529182G> C null R T 750 750 missense 0.79 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1293980986 1q21.2 1 149529190C> G null L V 753 753 missense 0.192 benign 0.13 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1553782655 1q21.2 1 149529197T> C null V A 755 755 missense 0.051 benign 0.24 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1433222525 1q21.2 1 149529199G> A null V I 756 756 missense 0.647 possibly damaging 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1298583503 1q21.2 1 149529217C> A null Q K 762 762 missense 0.774 possibly damaging 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1423878659 1q21.2 1 149529218A> G null Q R 762 762 missense 0.306 benign 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1363666345 1q21.2 1 149529223T> C null S P 764 764 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1165452341 1q21.2 1 149529281A> T null Q L 783 783 missense 0.045 benign 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1405416079 1q21.2 1 149529301T> C null Y H 790 790 missense 0.976 probably damaging 0.13 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1418258356 1q21.2 1 149529320A> T null H L 796 796 missense 0.79 possibly damaging 0.77 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1163922115 1q21.2 1 149554495G> C null R S 841 841 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1419939462 1q21.2 1 149554496C> G null L V 842 842 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1165408590 1q21.2 1 149554499A> G null N D 843 843 missense 0.669 possibly damaging 0.13 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1427335101 1q21.2 1 149554500A> T null N I 843 843 missense 0.876 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1259091058 1q21.2 1 149554502A> G null S G 844 844 missense 0.009 benign 0.47 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1187854224 1q21.2 1 149554504C> A null S R 844 844 missense 0.009 benign 0.9 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1252031487 1q21.2 1 149554505G> T null V L 845 845 missense 0.076 benign 0.16 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1252031487 1q21.2 1 149554505G> A null V M 845 845 missense 0.086 benign 0.09 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1227351091 1q21.2 1 149554508C> G null L V 846 846 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1297848870 1q21.2 1 149554511A> T null M L 847 847 missense 0.009 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1215293262 1q21.2 1 149554512T> C null M T 847 847 missense 0.548 possibly damaging 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1370490544 1q21.2 1 149554514G> T null E * 848 848 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1438430551 1q21.2 1 149554515A> C null E A 848 848 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1370490544 1q21.2 1 149554514G> A null E K 848 848 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1461437969 1q21.2 1 149554521A> G null E G 850 850 missense 0.108 benign 0.05 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1371312897 1q21.2 1 149554524A> C null E A 851 851 missense 0.916 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1371312897 1q21.2 1 149554524A> G null E G 851 851 missense 0.185 benign 0.13 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1394086931 1q21.2 1 149554526C> G null P A 852 852 missense 0.131 benign 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1268535825 1q21.2 1 149554527C> T null P L 852 852 missense 0.755 possibly damaging 0.09 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1268535825 1q21.2 1 149554527C> G null P R 852 852 missense 0.073 benign 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1394086931 1q21.2 1 149554526C> T null P S 852 852 missense 0.693 possibly damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1394086931 1q21.2 1 149554526C> A null P T 852 852 missense 0.81 possibly damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1479932944 1q21.2 1 149554532G> T null V F 854 854 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1301433188 1q21.2 1 149554538C> T null Q * 856 856 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1372844056 1q21.2 1 149554540G> T null Q H 856 856 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1299874605 1q21.2 1 149554543C> G null D E 857 857 missense 0.45 possibly damaging 0.05 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1301690908 1q21.2 1 149554541G> A null D N 857 857 missense 0.307 benign 0.1 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1394241985 1q21.2 1 149554542A> T null D V 857 857 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1301690908 1q21.2 1 149554541G> T null D Y 857 857 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1171319069 1q21.2 1 149554552T> G null D E 860 860 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1455325732 1q21.2 1 149554553G> A null G R 861 861 missense 0.001 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1455325732 1q21.2 1 149554553G> C null G R 861 861 missense 0.001 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1181500315 1q21.2 1 149554554G> T null G V 861 861 missense 0.009 benign 0.05 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1417776767 1q21.2 1 149554557G> A null C Y 862 862 missense 0.108 benign 0.15 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1253275283 1q21.2 1 149554559T> C null Y H 863 863 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1213170667 1q21.2 1 149554565A> G null T A 865 865 missense 0.894 possibly damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1348830149 1q21.2 1 149554569C> T null P L 866 866 missense 0.746 possibly damaging 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1348830149 1q21.2 1 149554569C> A null P Q 866 866 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1410390698 1q21.2 1 149554576G> A null M I 868 868 missense 0.146 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1308977184 1q21.2 1 149554574A> G null M V 868 868 missense 0.103 benign 0.98 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1354216106 1q21.2 1 149554578A> C null Y S 869 869 missense 0.62 possibly damaging 0.21 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1436089694 1q21.2 1 149554580T> C null F L 870 870 missense 0.009 benign 0.74 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1402469446 1q21.2 1 149554584A> G null E G 871 871 missense 0.888 possibly damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1402469446 1q21.2 1 149554584A> T null E V 871 871 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1256068083 1q21.2 1 149554590C> T null P L 873 873 missense 0.669 possibly damaging 0.13 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1183467497 1q21.2 1 149554589C> T null P S 873 873 missense 0.143 benign 0.33 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1183467497 1q21.2 1 149554589C> A null P T 873 873 missense 0.669 possibly damaging 0.41 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1190145844 1q21.2 1 149554594C> G null D E 874 874 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1443134347 1q21.2 1 149554596C> T null S L 875 875 missense 0.03 benign 0.22 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1228831819 1q21.2 1 149554609C> G null Y * 879 879 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1269810981 1q21.2 1 149554608A> G null Y C 879 879 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1291437394 1q21.2 1 149554611G> A null R K 880 880 missense 0.061 benign 0.17 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1416079869 1q21.2 1 149554613A> G null S G 881 881 missense 0.827 possibly damaging 0.1 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1340568770 1q21.2 1 149554614G> T null S I 881 881 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1340568770 1q21.2 1 149554614G> A null S N 881 881 missense 0.307 benign 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 Ensembl rs1559627393 1q21.2 1 149554616G> T null V L 882 882 missense 0.196 benign 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1160340596 1q21.2 1 149554620T> C null F S 883 883 missense 0.312 benign 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1461305203 1q21.2 1 149554623A> C null Y S 884 884 missense 0.237 benign 0.05 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1416330562 1q21.2 1 149554625T> G null S A 885 885 missense 0.279 benign 0.16 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1167744788 1q21.2 1 149554633G> T null E D 887 887 missense 0.931 probably damaging 0.05 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1473134473 1q21.2 1 149554635A> T null E V 888 888 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1241618800 1q21.2 1 149554638A> G null E G 889 889 missense 0.339 benign 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1209106256 1q21.2 1 149554641A> T null H L 890 890 missense 0.061 benign 0.31 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1448925957 1q21.2 1 149554640C> A null H N 890 890 missense 0.312 benign 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1448925957 1q21.2 1 149554640C> T null H Y 890 890 missense 0.015 benign 0.39 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1467917832 1q21.2 1 149554643A> G null I V 891 891 missense 0.018 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1271116356 1q21.2 1 149554646A> T null S C 892 892 missense 0.033 benign 0.25 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1229969310 1q21.2 1 149554647G> A null S N 892 892 missense 0.041 benign 0.18 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1356394756 1q21.2 1 149554648C> G null S R 892 892 missense 0.543 possibly damaging 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1366906104 1q21.2 1 149554652G> C null A P 894 894 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1366906104 1q21.2 1 149554652G> A null A T 894 894 missense 0.138 benign 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1440543932 1q21.2 1 149554653C> T null A V 894 894 missense 0.131 benign 0.07 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1392756901 1q21.2 1 149554655C> T null L F 895 895 missense 0.347 benign 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1392756901 1q21.2 1 149554655C> G null L V 895 895 missense 0.615 possibly damaging 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1419473611 1q21.2 1 149554660C> G null Y * 896 896 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1406491717 1q21.2 1 149554658T> C null Y H 896 896 missense 0.709 possibly damaging 0.05 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1193244915 1q21.2 1 149554663G> T null L F 897 897 missense 0.336 benign 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1166207238 1q21.2 1 149554661T> A null L M 897 897 missense 0.024 benign 0.27 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1166207238 1q21.2 1 149554661T> G null L V 897 897 missense 0.003 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1250928072 1q21.2 1 149554667A> G null N D 899 899 missense 0.81 possibly damaging 0.11 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1223550316 1q21.2 1 149554671G> T null R M 900 900 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1452089530 1q21.2 1 149554672G> T null R S 900 900 missense 0.102 benign 0.04 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1193569488 1q21.2 1 149554680C> A null T N 903 903 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1193569488 1q21.2 1 149554680C> G null T S 903 903 missense 0.523 possibly damaging 0.16 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1297801630 1q21.2 1 149554686C> T null T M 905 905 missense 0.2 benign 0.31 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1437689403 1q21.2 1 149554688G> T null V L 906 906 missense 0.91 probably damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1437689403 1q21.2 1 149554688G> A null V M 906 906 missense 0.992 probably damaging 0.05 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1327509963 1q21.2 1 149554692C> T null T I 907 907 missense 0.022 benign 1.0 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1327509963 1q21.2 1 149554692C> G null T R 907 907 missense 0.586 possibly damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1371256444 1q21.2 1 149554694A> G null S G 908 908 missense 0.007 benign 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1173191477 1q21.2 1 149554695G> T null S I 908 908 missense 0.827 possibly damaging 0.01 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1452780829 1q21.2 1 149554697C> T null L F 909 909 missense 0.102 benign 0.11 tolerated 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1232168315 1q21.2 1 149554701A> T null H L 910 910 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1478273370 1q21.2 1 149554700C> T null H Y 910 910 missense 0.976 probably damaging 0.02 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1179591630 1q21.2 1 149554703C> G null L V 911 911 missense 0.138 benign 0.03 deleterious 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1274775066 1q21.2 1 149554706G> T null V L 912 912 missense 0.746 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1274775066 1q21.2 1 149554706G> A null V M 912 912 missense 0.958 probably damaging 0.0 deleterious - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1280369306 1q21.2 1 149554709T> C null F L 913 913 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1220171260 1q21.2 1 149554711C> G null F L 913 913 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1278229426 1q21.2 1 149554712C> T null Q * 914 914 stop gained 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1278229426 1q21.2 1 149554712C> G null Q E 914 914 missense 0.289 benign 0.01 deleterious - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1351133331 1q21.2 1 149554714G> T null Q H 914 914 missense 0.878 possibly damaging 0.1 tolerated - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1433007805 1q21.2 1 149554717G> A null M I 915 915 missense 0.013 benign 0.24 tolerated - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1312332819 1q21.2 1 149554715A> T null M L 915 915 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1361113752 1q21.2 1 149554721G> T null V F 917 917 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1177065525 1q21.2 1 149554724A> C null I L 918 918 missense 0.832 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1177065525 1q21.2 1 149554724A> G null I V 918 918 missense 0.832 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1252512056 1q21.2 1 149554733C> A null Q K 921 921 missense 0.721 possibly damaging 0.11 tolerated - low confidence 0 A0A075B6G5 NBPF19 Neuroblastoma breakpoint family member 19 TOPMed rs1186590274 1q21.2 1 149554738G> T null * Y 922 922 stop lost 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs757996455 6q14.1 6 75362886G> A null T I 4 4 missense 0.772 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs557336397 6q14.1 6 75362880T> A null K I 6 6 2.0E-4 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs753713747 6q14.1 6 75362868T> C null E G 10 10 missense 0.329 benign 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs757225049 6q14.1 6 75362869C> T null E K 10 10 missense 0.257 benign 0.23 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1356138382 6q14.1 6 75362866C> T null V I 11 11 missense 0.124 benign 0.16 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1453471133 6q14.1 6 75362854G> C null H D 15 15 missense 0.725 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs763897881 6q14.1 6 75362853T> A null H L 15 15 missense 0.725 possibly damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs763897881 6q14.1 6 75362853T> C null H R 15 15 missense 0.065 benign 0.44 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1453471133 6q14.1 6 75362854G> A null H Y 15 15 missense 0.342 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1394740851 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75362851A> G null Y H 16 16 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs140731996 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75362848C> T null G R 17 17 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs140731996 6q14.1 6 75362848C> G null G R 17 17 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1248495294 6q14.1 6 75362844G> C null S C 18 18 missense 0.956 probably damaging 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1177205261 6q14.1 6 75362841G> A null A V 19 19 missense 0.034 benign 0.79 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs267601130 6q14.1 6 75362833C> T null E K 22 22 missense 0.013 benign 0.98 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs267601130 6q14.1 6 75362833C> G null E Q 22 22 missense 0.013 benign 0.63 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs762260642 6q14.1 6 75362826A> C null V G 24 24 missense 0.529 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs765765577 6q14.1 6 75362827C> G null V L 24 24 missense 0.238 benign 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs373336897 6q14.1 6 75362820C> G null R P 26 26 missense 0.51 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs373336897 6q14.1 6 75362820C> T null R Q 26 26 missense 0.006 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs372000426 6q14.1 6 75362821G> A null R W 26 26 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs745415665 6q14.1 6 75362818C> A null V F 27 27 missense 0.328 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs745415665 6q14.1 6 75362818C> T null V I 27 27 missense 0.006 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs778523176 6q14.1 6 75362810G> C null H Q 29 29 missense 0.009 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs150948880 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 6q14.1 6 75362809G> A null R * 30 30 missense 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1375701902 6q14.1 6 75362806C> A null D Y 31 31 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562502531 6q14.1 6 75362788C> A null E * 37 37 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs766671975 6q14.1 6 75362787T> C null E G 37 37 missense 0.003 benign 0.39 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1414228659 6q14.1 6 75362777T> C null I M 40 40 missense 0.369 benign 0.22 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs750525142 6q14.1 6 75362778A> C null I R 40 40 missense 0.001 benign 0.37 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs750525142 6q14.1 6 75362778A> G null I T 40 40 missense 0.009 benign 0.4 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs758579123 6q14.1 6 75362779T> C null I V 40 40 missense 0.001 benign 0.51 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs765244091 6q14.1 6 75362771T> G null E D 42 42 missense 0.078 benign 0.37 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1390939631 6q14.1 6 75362768A> T null D E 43 43 missense 0.808 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1202468508 6q14.1 6 75362757T> C null K R 47 47 missense 0.98 probably damaging 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,NCI-TCGA,gnomAD rs377250497 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75362754G> A null P L 48 48 2.0E-4 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,gnomAD rs377250497 6q14.1 6 75362754G> C null P R 48 48 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl,NCI-TCGA rs139907750 NCI-TCGA Cosmic [Cosmic]: skin, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:21499247,pubmed:23525077,cosmic_study:348,cosmic_study:464 6q14.1 6 75362748G> T null S * 50 50 missense 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1324457219 6q14.1 6 75353710C> A null R I 54 54 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,gnomAD rs375660630 6q14.1 6 75353708G> A null L F 55 55 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs894753104 6q14.1 6 75353683T> C null Y C 63 63 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs774216977 6q14.1 6 75353680C> T null R Q 64 64 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs759270192 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 6q14.1 6 75353681G> A null R W 64 64 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs770696243 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75353678G> A null R C 65 65 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs143502875 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6q14.1 6 75353677C> T null R H 65 65 missense 0.998 probably damaging 0.02 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1250967368 6q14.1 6 75353675T> C null M V 66 66 missense 0.779 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs201901477 6q14.1 6 75353665T> C null Q R 69 69 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs769792533 6q14.1 6 75353663G> C null L V 70 70 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1417228334 6q14.1 6 75353658C> G null L F 71 71 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs780969364 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75353651C> T null E K 74 74 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs780969364 6q14.1 6 75353651C> G null E Q 74 74 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC rs768504759 6q14.1 6 75353648T> C null K E 75 75 missense 0.871 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs572985059 6q14.1 6 75353645A> G null C R 76 76 2.0E-4 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs779152073 6q14.1 6 75353636G> A null R C 79 79 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs757436412 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22610119,cosmic_study:392 6q14.1 6 75353635C> T null R H 79 79 missense 0.689 possibly damaging 0.03 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs757436412 6q14.1 6 75353635C> A null R L 79 79 missense 0.984 probably damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC rs756662151 6q14.1 6 75353629A> G null V A 81 81 missense 0.726 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777670839 6q14.1 6 75353630C> T null V I 81 81 missense 0.102 benign 0.33 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777670839 6q14.1 6 75353630C> A null V L 81 81 missense 0.166 benign 0.69 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs147716908 6q14.1 6 75353625G> C null Y * 82 82 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs547365892 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75353624C> T null E K 83 83 missense 0.804 possibly damaging 0.18 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs751951510 6q14.1 6 75353606G> A null H Y 89 89 missense 0.558 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1454619018 6q14.1 6 75353603T> C null K E 90 90 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1248391094 6q14.1 6 75353596G> A null T I 92 92 missense 0.02 benign 0.25 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562492060 6q14.1 6 75353594C> T null D N 93 93 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs140166014 6q14.1 6 75353588T> A null M L 95 95 missense 0.331 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs140166014 6q14.1 6 75353588T> G null M L 95 95 missense 0.331 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1436711538 6q14.1 6 75353587A> C null M R 95 95 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs145876800 6q14.1 6 75353585T> G null N H 96 96 missense 0.764 possibly damaging 0.18 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs764584189 6q14.1 6 75353577G> C null S R 98 98 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs368134961 6q14.1 6 75353574G> T null D E 99 99 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149762228 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75353576C> T null D N 99 99 missense 0.998 probably damaging 0.08 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139696230 6q14.1 6 75353568G> T null F L 101 101 2.0E-4 missense 0.998 probably damaging 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs373890190 6q14.1 6 75353562G> T null N K 103 103 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes rs183811212 6q14.1 6 75353560A> G null L P 104 104 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs756218569 6q14.1 6 75353552G> A null Q * 107 107 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs748228535 6q14.1 6 75353545C> T null R Q 109 109 missense 0.689 possibly damaging 0.05 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1411852676 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75353546G> A null R W 109 109 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs781777389 6q14.1 6 75353539C> T null R K 111 111 missense 0.887 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs781777389 6q14.1 6 75353539C> A null R M 111 111 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs748279846 6q14.1 6 75315198T> C null K E 113 113 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs71561424 6q14.1 6 75315194T> C null K R 114 114 missense 0.078 benign 0.7 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs71561424 6q14.1 6 75315194T> G null K T 114 114 missense 0.406 benign 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs367834294 6q14.1 6 75315191A> C null L R 115 115 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs780605345 6q14.1 6 75315185T> G null E A 117 117 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1446865944 6q14.1 6 75315182T> C null Q R 118 118 missense 0.536 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1211189794 6q14.1 6 75315168G> C null Q E 123 123 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1332742268 6q14.1 6 75315165C> A null A S 124 124 missense 0.349 benign 0.39 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs750776513 6q14.1 6 75315162G> A null R C 125 125 missense 0.262 benign 0.07 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs764835248 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 6q14.1 6 75315161C> T null R H 125 125 missense 0.982 probably damaging 0.01 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs764835248 6q14.1 6 75315161C> A null R L 125 125 missense 0.91 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs753365729 6q14.1 6 75315149T> C null E G 129 129 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs544411358 6q14.1 6 75315146T> C null N S 130 130 missense 0.102 benign 0.17 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs952377712 6q14.1 6 75315143G> A null A V 131 131 missense 0.027 benign 0.2 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139648537 6q14.1 6 75315140T> C null K R 132 132 2.0E-4 missense 0.174 benign 0.47 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs200258569 6q14.1 6 75315138G> A null R * 133 133 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs200258569 6q14.1 6 75315138G> C null R G 133 133 missense 0.704 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs200643558 6q14.1 6 75315137C> T null R Q 133 133 missense 0.59 possibly damaging 0.05 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1164896642 6q14.1 6 75315134A> G null L P 134 134 missense 0.925 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1468070174 6q14.1 6 75315131T> C null N S 135 135 missense 0.03 benign 0.7 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1225605609 6q14.1 6 75315125A> C null L R 137 137 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562445887 6q14.1 6 75315115C> G null E D 140 140 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs539166309 6q14.1 6 75315116T> C null E G 140 140 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1382660852 6q14.1 6 75315111C> T null V I 142 142 missense 0.932 probably damaging 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs769942534 6q14.1 6 75315105G> A null L F 144 144 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs762079751 6q14.1 6 75315099A> C null S A 146 146 missense 0.999 probably damaging 0.11 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs866664915 6q14.1 6 75315098G> C null S C 146 146 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs776864651 6q14.1 6 75315089A> G null L P 149 149 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs766157987 6q14.1 6 75315087T> G null M L 150 150 missense 0.267 benign 0.23 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1235647929 6q14.1 6 75315086A> G null M T 150 150 missense 0.964 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs766157987 6q14.1 6 75315087T> C null M V 150 150 missense 0.823 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs12164038 6q14.1 6 75315080A> G null V A 152 152 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs12164038 6q14.1 6 75315080A> C null V G 152 152 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs747071603 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 6q14.1 6 75315078C> T null D N 153 153 missense 0.6 possibly damaging 0.09 tolerated 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1323660087 6q14.1 6 75315072T> C null R G 155 155 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs780472047 6q14.1 6 75315069G> A null Q * 156 156 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1214263512 6q14.1 6 75315068T> C null Q R 156 156 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs772598223 6q14.1 6 75315063G> A null H Y 158 158 missense 0.968 probably damaging 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs756911751 6q14.1 6 75315059A> G null I T 159 159 missense 0.007 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs779284288 6q14.1 6 75315060T> C null I V 159 159 missense 0.07 benign 0.87 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs753426900 6q14.1 6 75315051G> A null L F 162 162 missense 0.924 probably damaging 0.05 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs777401752 6q14.1 6 75315042G> T null Q K 165 165 missense 0.546 possibly damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1024876373 6q14.1 6 75315034C> G null Q H 167 167 missense 0.135 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1394628165 6q14.1 6 75315035T> C null Q R 167 167 missense 0.644 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs146239584 6q14.1 6 75315030C> T null V I 169 169 missense 0.0 benign 0.96 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1410831873 6q14.1 6 75315022A> T null D E 171 171 missense 0.021 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199690472 6q14.1 6 75315021G> A null L F 172 172 2.0E-4 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199690472 6q14.1 6 75315021G> C null L V 172 172 2.0E-4 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1314895471 6q14.1 6 75315013C> G null Q H 174 174 missense 0.035 benign 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs768131815 6q14.1 6 75315009G> T null L M 176 176 missense 0.947 probably damaging 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1274010938 6q14.1 6 75315003C> T null E K 178 178 missense 0.119 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1204659859 6q14.1 6 75315000C> T null E K 179 179 missense 0.001 benign 0.87 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs768976627 6q14.1 6 75314997C> T null E K 180 180 missense 0.49 possibly damaging 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62415695 6q14.1 6 75314988G> A null L F 183 183 0.008986 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62415695 6q14.1 6 75314988G> T null L I 183 183 0.008986 missense 0.953 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs779146327 6q14.1 6 75314975G> A null T I 187 187 missense 0.058 benign 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs779146327 6q14.1 6 75314975G> C null T S 187 187 missense 0.001 benign 0.56 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs996218991 6q14.1 6 75314958C> T null D N 193 193 missense 0.423 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs190732578 6q14.1 6 75314952G> T null Q K 195 195 2.0E-4 missense 0.067 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1165045569 6q14.1 6 75314942A> G null L P 198 198 missense 0.594 possibly damaging 0.05 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1476121469 6q14.1 6 75314930A> G null V A 202 202 missense 0.0 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1476121469 6q14.1 6 75314930A> T null V E 202 202 missense 0.0 benign 0.17 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562445114 6q14.1 6 75314926G> C null D E 203 203 missense 0.0 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs187001723 6q14.1 6 75314922C> T null E K 205 205 2.0E-4 missense 0.045 benign 0.35 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1442910396 6q14.1 6 75314919G> A null H Y 206 206 missense 0.506 possibly damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562445056 6q14.1 6 75314916T> G null K Q 207 207 missense 0.041 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs866193515 6q14.1 6 75314913C> A null A S 208 208 missense 0.003 benign 0.58 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs866193515 6q14.1 6 75314913C> T null A T 208 208 missense 0.003 benign 0.9 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,dbSNP,gnomAD rs371050880 6q14.1 6 75314909G> A null S L 209 209 missense 0.174 benign 0.16 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs780705551 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75314906C> T null R K 210 210 missense 0.0 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs754885788 6q14.1 6 75314905C> A null R S 210 210 missense 0.001 benign 0.07 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs780705551 6q14.1 6 75314906C> G null R T 210 210 missense 0.003 benign 0.14 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs550245608 6q14.1 6 75314898G> T null Q K 213 213 2.0E-4 missense 0.642 possibly damaging 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1231535672 6q14.1 6 75314891T> C null H R 215 215 missense 0.067 benign 0.18 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1260156651 6q14.1 6 75314886C> T null E K 217 217 missense 0.04 benign 0.21 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1473005969 6q14.1 6 75314882A> C null M R 218 218 missense 0.52 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1308141507 6q14.1 6 75314883T> C null M V 218 218 missense 0.103 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs768774107 6q14.1 6 75314879T> A null N I 219 219 missense 0.028 benign 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73751111 6q14.1 6 75314878G> T null N K 219 219 2.0E-4 missense 0.051 benign 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs768774107 6q14.1 6 75314879T> C null N S 219 219 missense 0.001 benign 0.41 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1256413247 6q14.1 6 75314868C> T null A T 223 223 missense 0.036 benign 0.84 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1484454786 6q14.1 6 75314865T> C null N D 224 224 missense 0.071 benign 0.1 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs760900476 6q14.1 6 75314862G> A null Q * 225 225 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs775441968 6q14.1 6 75314858T> G null E A 226 226 missense 0.916 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs775441968 6q14.1 6 75314858T> C null E G 226 226 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs867513105 6q14.1 6 75314853G> A null H Y 228 228 missense 0.162 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs565134355 6q14.1 6 75314849T> C null N S 229 229 2.0E-4 missense 0.102 benign 0.2 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs774985091 6q14.1 6 75314847T> C null R G 230 230 missense 0.597 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1215648955 6q14.1 6 75314844G> A null Q * 231 231 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1401904292 6q14.1 6 75314840A> C null L R 232 232 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs771408262 6q14.1 6 75314837C> T null R K 233 233 missense 0.011 benign 0.05 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs540380659 6q14.1 6 75314835G> A null L F 234 234 2.0E-4 missense 0.862 possibly damaging 0.2 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs540380659 6q14.1 6 75314835G> C null L V 234 234 2.0E-4 missense 0.313 benign 0.95 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1343960697 6q14.1 6 75314832T> G null K Q 235 235 missense 0.811 possibly damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1410008010 6q14.1 6 75314814G> A null Q * 241 241 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs867834619 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6q14.1 6 75314805C> T null E K 244 244 missense 0.18 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1256534711 6q14.1 6 75314798A> G null L P 246 246 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs149447209 6q14.1 6 75314786T> C null N S 250 250 missense 0.949 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1389277447 6q14.1 6 75314783T> G null K T 251 251 missense 0.548 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1362802419 6q14.1 6 75314771T> C null K R 255 255 missense 0.011 benign 0.51 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs931076119 6q14.1 6 75314762T> C null E G 258 258 missense 0.811 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs753025702 6q14.1 6 75314760C> T null E K 259 259 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1398158668 6q14.1 6 75314756A> C null L R 260 260 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs767624596 6q14.1 6 75314750T> C null E G 262 262 missense 0.829 possibly damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs919711527 6q14.1 6 75314745T> C null R G 264 264 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs774386197 6q14.1 6 75314744C> T null R K 264 264 missense 0.463 possibly damaging 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs766905802 6q14.1 6 75314740A> C null D E 265 265 missense 0.0 benign 0.8 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs763403214 6q14.1 6 75314739T> A null K * 266 266 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs773581684 6q14.1 6 75314733C> A null A S 268 268 missense 0.001 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs770077609 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75314732G> A null A V 268 268 missense 0.119 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs141211664 6q14.1 6 75314729T> C null K R 269 269 missense 0.011 benign 0.57 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1247236700 6q14.1 6 75314721A> C null C G 272 272 missense 0.05 benign 0.19 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1247236700 6q14.1 6 75314721A> G null C R 272 272 missense 0.943 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs768162714 6q14.1 6 75314715T> G null N H 274 274 missense 0.403 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1250540259 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 6q14.1 6 75314711G> C null S C 275 275 missense 0.127 benign 0.01 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1250540259 6q14.1 6 75314711G> A null S F 275 275 missense 0.823 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1475469586 6q14.1 6 75314712A> G null S P 275 275 missense 0.905 possibly damaging 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1455585707 6q14.1 6 75314709T> C null S G 276 276 missense 0.013 benign 0.31 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs746559220 6q14.1 6 75314706G> A null L F 277 277 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs758421123 6q14.1 6 75314702A> G null M T 278 278 missense 0.06 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61736188 6q14.1 6 75314703T> C null M V 278 278 0.003994 missense 0.001 benign 0.31 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1224854935 6q14.1 6 75314699G> A null A V 279 279 missense 0.007 benign 0.1 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs745729808 6q14.1 6 75314696T> C null E G 280 280 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs778985483 6q14.1 6 75314694C> G null V L 281 281 missense 0.015 benign 0.93 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs753556981 NCI-TCGA Cosmic [Cosmic]: endometrium, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:23525077,cosmic_study:419,cosmic_study:464 6q14.1 6 75314682G> A null R * 285 285 missense 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs147080592 6q14.1 6 75314681C> A null R L 285 285 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147080592 cosmic curated [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21499247,cosmic_study:329,cosmic_study:348 6q14.1 6 75314681C> T null R Q 285 285 missense 0.738 possibly damaging 0.04 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs141766419 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75314676G> A null R C 287 287 2.0E-4 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141766419 6q14.1 6 75314676G> C null R G 287 287 2.0E-4 missense 0.909 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs202178049 6q14.1 6 75314675C> T null R H 287 287 missense 0.212 benign 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs866728885 6q14.1 6 75314667C> T null E K 290 290 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1025520310 6q14.1 6 75314657C> T null G D 293 293 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs960539845 6q14.1 6 75314658C> G null G R 293 293 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs960539845 6q14.1 6 75314658C> T null G S 293 293 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,TOPMed,gnomAD rs151315040 6q14.1 6 75314653T> A null K N 294 294 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs765638620 6q14.1 6 75314646C> T null E K 297 297 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs768376745 6q14.1 6 75314641G> C null I M 298 298 missense 0.943 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,gnomAD rs369160081 6q14.1 6 75314642A> G null I T 298 298 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs373125676 6q14.1 6 75314627G> A null S F 303 303 missense 0.0 benign 0.07 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs148809043 6q14.1 6 75314617C> A null R S 306 306 missense 0.493 possibly damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs770746648 6q14.1 6 75314609C> T null R K 309 309 missense 0.0 benign 0.45 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs749141864 6q14.1 6 75314607T> C null K E 310 310 missense 0.062 benign 0.11 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs777385545 6q14.1 6 75314605C> A null K N 310 310 missense 0.033 benign 0.11 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs901845283 6q14.1 6 75314602C> A null K N 311 311 missense 0.694 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs755243579 6q14.1 6 75314593C> G null E D 314 314 missense 0.013 benign 0.31 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs751715503 6q14.1 6 75314589C> A null E * 316 316 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs751715503 6q14.1 6 75314589C> T null E K 316 316 missense 0.199 benign 0.25 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1040617206 6q14.1 6 75314586G> T null H N 317 317 missense 0.001 benign 0.66 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs758532905 6q14.1 6 75314581A> T null H Q 318 318 missense 0.013 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs780250278 6q14.1 6 75314582T> C null H R 318 318 missense 0.028 benign 0.51 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs746426776 6q14.1 6 75314580T> C null S G 319 319 missense 0.033 benign 0.18 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1431392749 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75314579C> T null S N 319 319 missense 0.033 benign 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs889426006 6q14.1 6 75314572C> A null E D 321 321 missense 0.001 benign 0.78 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs762175679 6q14.1 6 75314558A> G null V A 326 326 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1160014965 6q14.1 6 75314539T> G null R S 332 332 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1050867202 6q14.1 6 75314534G> A null S F 334 334 missense 0.066 benign 0.16 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562443346 6q14.1 6 75314531T> C null E G 335 335 missense 0.271 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs144226005 6q14.1 6 75314526C> G null E Q 337 337 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1472022696 6q14.1 6 75314523T> C null K E 338 338 missense 0.678 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs891538655 6q14.1 6 75314522T> A null K I 338 338 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1325850926 6q14.1 6 75314517C> T null E K 340 340 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs866515747 6q14.1 6 75314514C> A null E * 341 341 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1369353689 6q14.1 6 75314507A> G null F S 343 343 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs41269319 6q14.1 6 75314504C> T null S N 344 344 missense 0.005 benign 0.76 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1346353942 6q14.1 6 75314492G> A null S F 348 348 missense 0.045 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1442339465 6q14.1 6 75314489T> C null E G 349 349 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1226651077 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75314483G> A null T I 351 351 missense 0.031 benign 0.33 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed rs759161187 6q14.1 6 75314484T> G null T P 351 351 missense 0.048 benign 0.17 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1338445485 6q14.1 6 75314466G> T null L M 357 357 missense 0.701 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs770926736 6q14.1 6 75314462T> C null E G 358 358 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs919662056 6q14.1 6 75314436G> C null L V 367 367 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs777628730 6q14.1 6 75314432A> G null L P 368 368 missense 0.065 benign 0.07 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs747926737 6q14.1 6 75314427C> G null E Q 370 370 missense 0.341 benign 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs758577044 6q14.1 6 75314414A> C null V G 374 374 missense 0.616 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1252300138 6q14.1 6 75314415C> G null V L 374 374 missense 0.003 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs112573013 6q14.1 6 75314412T> C null K E 375 375 missense 0.83 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113401431 6q14.1 6 75314408C> T null S N 376 376 9.98E-4 missense 0.0 benign 0.58 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778800256 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 6q14.1 6 75314406G> A null R * 377 377 missense 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs757783831 6q14.1 6 75314405C> T null R Q 377 377 missense 0.581 possibly damaging 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1469409733 6q14.1 6 75314400T> C null K E 379 379 missense 0.506 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs754365039 6q14.1 6 75314378C> G null S T 386 386 missense 0.194 benign 0.68 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1268886320 6q14.1 6 75314370C> T null E K 389 389 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1462045079 6q14.1 6 75314364C> G null A P 391 391 missense 0.375 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,TOPMed,gnomAD rs376668841 6q14.1 6 75314361C> T null E K 392 392 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs764647058 6q14.1 6 75314351A> C null L R 395 395 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35464830 6q14.1 6 75314349T> C null K E 396 396 0.001997 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs972588280 6q14.1 6 75314344A> C null D E 397 397 missense 0.412 benign 0.85 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1156521944 6q14.1 6 75314346C> G null D H 397 397 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs200175610 6q14.1 6 75314332C> A null K N 401 401 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1452780508 6q14.1 6 75314324G> A null S L 404 404 missense 0.78 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs759219450 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 6q14.1 6 75314318G> A null T I 406 406 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs765740754 6q14.1 6 75314316C> T null V M 407 407 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs267601129 6q14.1 6 75314296C> A null R S 413 413 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1403182322 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75314295T> C null K E 414 414 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs773083252 cosmic curated [Cosmic]: kidney cosmic_study:416 6q14.1 6 75314276A> T null I K 420 420 missense 0.206 benign 0.0 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1163544216 6q14.1 6 75314277T> G null I L 420 420 missense 0.003 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs150817517 6q14.1 6 75314271G> C null Q E 422 422 3.99E-4 missense 0.7 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs747966264 6q14.1 6 75314261C> T null R K 425 425 missense 0.0 benign 0.58 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs879623555 6q14.1 6 75314260T> G null R S 425 425 missense 0.012 benign 0.14 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs776360054 6q14.1 6 75314256C> T null V M 427 427 missense 0.809 possibly damaging 0.17 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs772295141 6q14.1 6 75314243T> C null N S 431 431 missense 0.013 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs979666226 6q14.1 6 75314238T> G null N H 433 433 missense 0.007 benign 0.22 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs967944520 6q14.1 6 75314231T> C null K R 435 435 missense 0.813 possibly damaging 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1179325708 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75314229C> T null V M 436 436 missense 0.04 benign 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs267601128 6q14.1 6 75314219C> T null G E 439 439 missense 0.04 benign 0.14 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1229153574 6q14.1 6 75314217T> C null K E 440 440 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs779187995 6q14.1 6 75314214C> T null V I 441 441 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1365856308 6q14.1 6 75314209C> T null M I 442 442 missense 0.15 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs757337165 6q14.1 6 75314210A> G null M T 442 442 missense 0.001 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs749363024 6q14.1 6 75314207T> G null D A 443 443 missense 0.003 benign 0.14 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1321894637 6q14.1 6 75314208C> G null D H 443 443 missense 0.401 benign 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs184146443 6q14.1 6 75314204A> G null V A 444 444 5.99E-4 missense 0.965 probably damaging 0.05 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs562398709 6q14.1 6 75314198T> C null E G 446 446 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1169032032 cosmic curated [Cosmic]: breast pubmed:23856246,cosmic_study:504 6q14.1 6 75314180C> T null S N 452 452 missense 0.979 probably damaging 0.0 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs867165614 6q14.1 6 75314174T> G null K T 454 454 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs753138928 6q14.1 6 75314172G> A null L F 455 455 missense 0.019 benign 0.45 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,TOPMed,gnomAD rs150576610 6q14.1 6 75314164T> A null K N 457 457 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs191582955 6q14.1 6 75314163G> T null L I 458 458 0.005391 missense 0.206 benign 0.49 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1315261552 6q14.1 6 75314156G> A null S F 460 460 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1449327178 6q14.1 6 75314149C> A null M I 462 462 missense 0.074 benign 0.08 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1167117749 6q14.1 6 75314150A> G null M T 462 462 missense 0.599 possibly damaging 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs751237610 6q14.1 6 75314148C> G null E Q 463 463 missense 0.893 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs891576174 6q14.1 6 75314140T> A null K N 465 465 missense 0.111 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1270710653 6q14.1 6 75314131G> C null N K 468 468 missense 0.017 benign 0.17 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs759069261 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75314132T> C null N S 468 468 missense 0.0 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs759069261 6q14.1 6 75314132T> G null N T 468 468 missense 0.0 benign 0.36 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs762420786 6q14.1 6 75314127T> A null T S 470 470 missense 0.793 possibly damaging 0.07 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562441989 6q14.1 6 75314122T> A null R S 471 471 missense 0.01 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1490907912 6q14.1 6 75314121C> T null E K 472 472 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs772737277 6q14.1 6 75314118T> C null R G 473 473 missense 0.83 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1202932722 6q14.1 6 75314113A> T null D E 474 474 missense 0.299 benign 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1217451276 6q14.1 6 75314107C> A null L F 476 476 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs188283264 6q14.1 6 75314109A> T null L M 476 476 5.99E-4 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1210491020 6q14.1 6 75314105A> G null I T 477 477 missense 0.0 benign 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs768502815 6q14.1 6 75314102C> T null G D 478 478 missense 0.045 benign 0.72 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1366246828 6q14.1 6 75314103C> T null G S 478 478 missense 0.003 benign 0.98 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC rs746802376 6q14.1 6 75314100T> C null K E 479 479 missense 0.362 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1193923969 6q14.1 6 75314094T> C null K E 481 481 missense 0.027 benign 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs774482509 6q14.1 6 75314090C> T null S N 482 482 missense 0.001 benign 0.31 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs749361613 6q14.1 6 75314072G> A null S F 488 488 missense 0.078 benign 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1371612578 6q14.1 6 75314063C> T null S N 491 491 missense 0.003 benign 0.56 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1176050456 6q14.1 6 75314061A> G null C R 492 492 missense 0.333 benign 0.1 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777953960 6q14.1 6 75314057C> T null S N 493 493 missense 0.039 benign 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777953960 6q14.1 6 75314057C> G null S T 493 493 missense 0.0 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1399538360 6q14.1 6 75314054A> G null V A 494 494 missense 0.418 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs748602753 6q14.1 6 75314055C> T null V I 494 494 missense 0.019 benign 0.2 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1383417516 6q14.1 6 75314051T> C null D G 495 495 missense 0.0 benign 0.11 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1191858474 6q14.1 6 75314047T> A null L F 496 496 missense 0.206 benign 0.08 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1057175220 6q14.1 6 75314042T> C null K R 498 498 missense 0.117 benign 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1204773930 6q14.1 6 75314036C> A null R I 500 500 missense 0.675 possibly damaging 0.05 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs568751104 6q14.1 6 75314034G> A null L F 501 501 2.0E-4 missense 0.703 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs751932500 6q14.1 6 75314029A> T null D E 502 502 missense 0.049 benign 0.57 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs779614812 6q14.1 6 75314027C> G null G A 503 503 missense 0.206 benign 0.59 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1207881291 6q14.1 6 75314028C> T null G S 503 503 missense 0.036 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1278634542 6q14.1 6 75314025T> C null I V 504 504 missense 0.007 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs369652452 6q14.1 6 75314019C> T null E K 506 506 missense 0.011 benign 0.47 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs761307718 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75314015A> G null V A 507 507 missense 0.0 benign 0.93 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs761307718 6q14.1 6 75314015A> C null V G 507 507 missense 0.06 benign 0.33 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs753827298 6q14.1 6 75314013C> T null E K 508 508 missense 0.456 possibly damaging 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs763993821 6q14.1 6 75314010T> C null R G 509 509 missense 0.013 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs760424277 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313994C> T null G E 514 514 missense 0.017 benign 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1359099592 6q14.1 6 75313990C> G null R S 515 515 missense 0.017 benign 0.29 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375150659 6q14.1 6 75313988G> A null S L 516 516 missense 0.0 benign 0.41 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1470989448 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:375 6q14.1 6 75313986G> A null R * 517 517 missense 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs771083626 6q14.1 6 75313985C> T null R Q 517 517 missense 0.018 benign 0.4 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1486935851 6q14.1 6 75313981T> G null K N 518 518 missense 0.944 probably damaging 0.23 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs763182010 6q14.1 6 75313977A> G null S P 520 520 missense 0.0 benign 0.42 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs773434591 6q14.1 6 75313961G> A null P L 525 525 missense 0.03 benign 0.17 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs773434591 6q14.1 6 75313961G> C null P R 525 525 missense 0.001 benign 0.41 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1252342661 6q14.1 6 75313962G> A null P S 525 525 missense 0.017 benign 0.4 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1205538372 6q14.1 6 75313955T> G null D A 527 527 missense 0.616 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs995412675 6q14.1 6 75313953T> C null N D 528 528 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1266979429 6q14.1 6 75313951A> C null N K 528 528 missense 0.533 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1326429042 6q14.1 6 75313952T> C null N S 528 528 missense 0.844 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs748226463 6q14.1 6 75313950T> G null K Q 529 529 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1015135928 6q14.1 6 75313935_75313945du p null T I 534 534 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs771358999 6q14.1 6 75313932G> A null L F 535 535 missense 0.003 benign 0.73 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs781777332 6q14.1 6 75313925A> G null I T 537 537 missense 0.858 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs769176224 6q14.1 6 75313922T> G null E A 538 538 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1172088892 6q14.1 6 75313923C> G null E Q 538 538 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1375800753 6q14.1 6 75313919C> T null R K 539 539 missense 0.298 benign 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1394645870 6q14.1 6 75313913T> C null K R 541 541 missense 0.047 benign 0.43 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs747355259 6q14.1 6 75313908G> A null R C 543 543 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs757991673 6q14.1 6 75313907C> T null R H 543 543 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs757991673 6q14.1 6 75313907C> A null R L 543 543 missense 0.753 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1455091380 6q14.1 6 75313889A> G null V A 549 549 missense 0.241 benign 0.42 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778519939 6q14.1 6 75313886A> G null V A 550 550 missense 0.348 benign 0.08 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs756805292 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 6q14.1 6 75313884C> T null E K 551 551 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs896262666 6q14.1 6 75313880C> T null G E 552 552 missense 0.967 probably damaging 0.05 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1327873945 6q14.1 6 75313881C> G null G R 552 552 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs201906969 6q14.1 6 75313877T> A null D V 553 553 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs763966569 6q14.1 6 75313856T> C null E G 560 560 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562440981 6q14.1 6 75313857C> T null E K 560 560 missense 0.802 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs763966569 6q14.1 6 75313856T> A null E V 560 560 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1256649258 6q14.1 6 75313844A> T null L Q 564 564 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1318476589 6q14.1 6 75313840T> G null E D 565 565 missense 0.485 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1185306598 6q14.1 6 75313839G> A null Q * 566 566 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs760615391 6q14.1 6 75313838T> A null Q L 566 566 missense 0.138 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1208812169 6q14.1 6 75313826G> A null T I 570 570 missense 0.811 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs752450803 6q14.1 6 75313824C> A null E * 571 571 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs752450803 6q14.1 6 75313824C> T null E K 571 571 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs752450803 6q14.1 6 75313824C> G null E Q 571 571 missense 0.925 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1254182673 6q14.1 6 75313821G> T null Q K 572 572 missense 0.443 benign 0.05 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1263298097 6q14.1 6 75313818C> T null D N 573 573 missense 0.971 probably damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1243670608 6q14.1 6 75313812C> T null A T 575 575 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1321464664 6q14.1 6 75313809T> G null N H 576 576 missense 0.862 possibly damaging 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1316207648 6q14.1 6 75313803G> C null L V 578 578 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs759249502 6q14.1 6 75313794G> C null Q E 581 581 missense 0.019 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs371768415 6q14.1 6 75313787T> C null E G 583 583 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1435891185 6q14.1 6 75313783C> A null E D 584 584 missense 0.068 benign 0.21 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1182119353 6q14.1 6 75313778T> C null K R 586 586 missense 0.255 benign 0.28 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1291971381 6q14.1 6 75313763T> C null K R 591 591 missense 0.028 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs747667417 6q14.1 6 75313761T> C null N D 592 592 missense 0.161 benign 0.74 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs769055972 6q14.1 6 75313755C> T null A T 594 594 missense 0.968 probably damaging 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1165257553 6q14.1 6 75313751A> G null I T 595 595 missense 0.119 benign 0.21 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1455203365 6q14.1 6 75313747C> G null E D 596 596 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs775856904 6q14.1 6 75313742C> T null G D 598 598 missense 0.854 possibly damaging 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs747481132 6q14.1 6 75313743C> T null G S 598 598 missense 0.298 benign 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs141477236 6q14.1 6 75313736A> G null V A 600 600 2.0E-4 missense 0.0 benign 0.83 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC rs746206187 6q14.1 6 75313737C> T null V I 600 600 missense 0.014 benign 0.37 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1260001661 6q14.1 6 75313730C> T null S N 602 602 missense 0.241 benign 0.48 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs367963442 6q14.1 6 75313728G> A null Q * 603 603 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1208829177 6q14.1 6 75313718T> C null E G 606 606 missense 0.277 benign 0.45 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC rs373828183 6q14.1 6 75313710G> A null H Y 609 609 missense 0.216 benign 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs756013863 6q14.1 6 75313706C> A null R I 610 610 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1031387301 6q14.1 6 75313703A> G null F S 611 611 missense 0.25 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1228845904 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313700C> T null R Q 612 612 missense 0.013 benign 0.52 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs776455963 cosmic curated [Cosmic]: breast, [Cosmic]: bone, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: lung pubmed:24190505,cosmic_study:376,cosmic_study:414,cosmic_study:418,cosmic_study:518 6q14.1 6 75313701G> A null R W 612 612 missense 0.929 probably damaging 0.0 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1299315118 6q14.1 6 75313695C> T null E K 614 614 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs765589504 6q14.1 6 75313688G> A null A V 616 616 missense 0.259 benign 0.16 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1366435624 6q14.1 6 75313682C> A null S I 618 618 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs762067637 6q14.1 6 75313680G> A null R * 619 619 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs776854335 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313679C> T null R Q 619 619 missense 0.062 benign 0.23 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1023596934 6q14.1 6 75313663T> G null E D 624 624 missense 0.079 benign 0.42 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs776109907 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6q14.1 6 75313665C> T null E K 624 624 missense 0.932 probably damaging 0.0 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs921803616 6q14.1 6 75313661A> G null V A 625 625 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs974803954 6q14.1 6 75313656C> T null A T 627 627 missense 0.831 possibly damaging 0.05 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1250625880 6q14.1 6 75313653G> A null L F 628 628 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs746259489 6q14.1 6 75313645C> A null E D 630 630 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs867498559 6q14.1 6 75313643T> G null K T 631 631 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs754618124 6q14.1 6 75313636G> C null H Q 633 633 missense 1.0 probably damaging 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs770586450 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6q14.1 6 75313635C> T null E K 634 634 missense 0.295 benign 0.1 tolerated 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs748875756 6q14.1 6 75313629T> C null M V 636 636 missense 0.348 benign 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1342108493 6q14.1 6 75313611G> T null L I 642 642 missense 0.175 benign 0.76 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1342108493 6q14.1 6 75313611G> C null L V 642 642 missense 0.162 benign 0.05 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs777289478 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6q14.1 6 75313605G> A null Q * 644 644 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1422685554 6q14.1 6 75313601A> T null L H 645 645 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201842783 6q14.1 6 75313591A> C null D E 648 648 0.001398 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs747590253 6q14.1 6 75313590A> T null Y N 649 649 missense 0.756 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs781231109 6q14.1 6 75313580A> C null L R 652 652 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1356146278 6q14.1 6 75313568A> C null F C 656 656 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs754928211 6q14.1 6 75313569A> T null F I 656 656 missense 0.692 possibly damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs754928211 6q14.1 6 75313569A> G null F L 656 656 missense 0.049 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1411534292 6q14.1 6 75313556T> C null E G 660 660 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs751424079 6q14.1 6 75313557C> T null E K 660 660 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs766207449 6q14.1 6 75313554T> C null N D 661 661 missense 0.0 benign 0.47 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1430843167 6q14.1 6 75313546G> C null N K 663 663 missense 0.134 benign 0.27 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs758261361 6q14.1 6 75313547T> C null N S 663 663 missense 0.643 possibly damaging 0.1 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1368457241 6q14.1 6 75313537C> T null M I 666 666 missense 0.119 benign 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs764200052 6q14.1 6 75313535C> T null G E 667 667 missense 0.855 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs760845175 6q14.1 6 75313532T> C null Q R 668 668 missense 0.0 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1254666045 6q14.1 6 75313529T> C null E G 669 669 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs752675547 6q14.1 6 75313530C> T null E K 669 669 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1200433983 6q14.1 6 75313526A> T null V D 670 670 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs759981199 6q14.1 6 75313524G> C null L V 671 671 missense 0.003 benign 0.3 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1226747121 6q14.1 6 75313519A> T null N K 672 672 missense 0.015 benign 0.17 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1265108522 6q14.1 6 75313520T> C null N S 672 672 missense 0.027 benign 0.57 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1444102701 6q14.1 6 75313512T> C null K E 675 675 missense 0.371 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs763294278 6q14.1 6 75313511T> G null K T 675 675 missense 0.653 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs772967207 6q14.1 6 75313508T> A null E V 676 676 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs769301224 6q14.1 6 75313503C> T null E K 678 678 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs747726048 6q14.1 6 75313492C> G null K N 681 681 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs542938844 6q14.1 6 75313491G> A null R C 682 682 3.99E-4 missense 0.302 benign 0.05 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs747008532 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6q14.1 6 75313490C> T null R H 682 682 missense 0.459 possibly damaging 0.22 tolerated 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs747008532 6q14.1 6 75313490C> A null R L 682 682 missense 0.953 probably damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs753495863 6q14.1 6 75313487T> A null Y F 683 683 missense 0.015 benign 0.9 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs906002829 6q14.1 6 75313478G> C null A G 686 686 missense 0.037 benign 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs910634974 6q14.1 6 75313479C> G null A P 686 686 missense 0.889 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs910634974 6q14.1 6 75313479C> A null A S 686 686 missense 0.052 benign 0.94 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs910634974 6q14.1 6 75313479C> T null A T 686 686 missense 0.258 benign 0.08 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs780125831 6q14.1 6 75313475A> G null L P 687 687 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs750150915 6q14.1 6 75313471C> G null R S 688 688 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs531280086 6q14.1 6 75313472C> G null R T 688 688 2.0E-4 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1023114778 6q14.1 6 75313466C> T null S N 690 690 missense 0.298 benign 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1285194303 6q14.1 6 75313459A> T null N K 692 692 missense 0.314 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1014403478 6q14.1 6 75313460T> C null N S 692 692 missense 0.1 benign 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1225727780 6q14.1 6 75313458C> T null G R 693 693 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1283406083 6q14.1 6 75313455T> C null R G 694 694 missense 0.118 benign 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs778083612 6q14.1 6 75313454C> T null R K 694 694 missense 0.134 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,gnomAD rs145877579 6q14.1 6 75313452T> C null R G 695 695 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1421021528 6q14.1 6 75313449T> C null M V 696 696 missense 0.097 benign 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1433699237 6q14.1 6 75313446C> T null V M 697 697 missense 0.23 benign 0.14 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs767520996 6q14.1 6 75313439A> G null V A 699 699 missense 0.06 benign 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1319844897 6q14.1 6 75313440C> T null V I 699 699 missense 0.005 benign 0.28 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs78566620 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 6q14.1 6 75313430G> A null T M 702 702 2.0E-4 missense 0.564 possibly damaging 0.15 tolerated 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs766854436 6q14.1 6 75313425T> C null T A 704 704 missense 0.867 possibly damaging 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs773410611 6q14.1 6 75313418A> G null V A 706 706 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs545378552 6q14.1 6 75313419C> T null V I 706 706 0.001597 missense 0.751 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1475108428 6q14.1 6 75313406G> C null A G 710 710 missense 0.284 benign 0.23 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1290781932 6q14.1 6 75313407C> T null A T 710 710 missense 0.086 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs769511155 6q14.1 6 75313404C> T null V I 711 711 missense 0.017 benign 0.19 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs578080275 6q14.1 6 75313398C> T null G S 713 713 2.0E-4 missense 0.0 benign 0.4 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs768337770 6q14.1 6 75313397C> A null G V 713 713 missense 0.0 benign 0.14 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1044004957 6q14.1 6 75313392C> T null A T 715 715 missense 0.015 benign 0.24 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562438969 6q14.1 6 75313391G> A null A V 715 715 missense 0.062 benign 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs746495331 6q14.1 6 75313389C> T null A T 716 716 missense 0.036 benign 0.35 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs780180968 6q14.1 6 75313380C> A null E * 719 719 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370823048 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313376G> A null T M 720 720 2.0E-4 missense 0.901 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1433777763 6q14.1 6 75313367A> G null V A 723 723 missense 0.068 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1303450111 6q14.1 6 75313360T> C null I M 725 725 missense 0.832 possibly damaging 0.21 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1348947164 6q14.1 6 75313362T> C null I V 725 725 missense 0.32 benign 0.47 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs756361284 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313358C> T null R Q 726 726 missense 0.06 benign 0.14 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs755925479 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6q14.1 6 75313359G> A null R W 726 726 missense 0.972 probably damaging 0.0 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs573177009 6q14.1 6 75313352G> C null S C 728 728 missense 0.135 benign 0.07 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs573177009 6q14.1 6 75313352G> T null S Y 728 728 missense 0.947 probably damaging 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs781382151 6q14.1 6 75313346T> G null Q P 730 730 missense 0.806 possibly damaging 0.17 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1420670715 6q14.1 6 75313337T> G null N T 733 733 missense 0.199 benign 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs150255059 6q14.1 6 75313335G> T null H N 734 734 missense 0.942 probably damaging 0.08 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562438615 6q14.1 6 75313331A> G null I T 735 735 missense 0.184 benign 0.62 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs751607164 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313325C> T null S N 737 737 missense 0.058 benign 0.37 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,TOPMed,gnomAD rs141090895 6q14.1 6 75313316C> T null R Q 740 740 missense 0.195 benign 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs766903756 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6q14.1 6 75313317G> A null R W 740 740 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs758784720 6q14.1 6 75313314G> C null Q E 741 741 missense 0.074 benign 0.22 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1272244605 6q14.1 6 75313308C> G null G R 743 743 missense 0.439 benign 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs765584991 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313295G> A null P L 747 747 missense 0.917 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1434398137 6q14.1 6 75313296G> A null P S 747 747 missense 0.776 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1373741686 6q14.1 6 75313292A> C null V G 748 748 missense 0.0 benign 0.44 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1216964289 cosmic curated [Cosmic]: kidney pubmed:23797736,cosmic_study:494 6q14.1 6 75313293C> T null V M 748 748 missense 0.0 benign 0.19 tolerated 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1442276982 6q14.1 6 75313284A> G null S P 751 751 missense 0.006 benign 0.27 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1303206207 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313280G> A null S F 752 752 missense 0.514 possibly damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1406425722 6q14.1 6 75313271T> C null D G 755 755 missense 0.003 benign 0.18 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs760288859 6q14.1 6 75313269T> C null R G 756 756 missense 0.715 possibly damaging 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs775088298 6q14.1 6 75313268C> T null R K 756 756 missense 0.715 possibly damaging 0.28 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs774343848 6q14.1 6 75313260G> C null P A 759 759 missense 0.132 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1412814835 6q14.1 6 75313259G> A null P L 759 759 missense 0.573 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs774343848 6q14.1 6 75313260G> A null P S 759 759 missense 0.039 benign 0.65 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs770693128 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313245G> A null L F 764 764 missense 0.036 benign 0.47 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs770693128 6q14.1 6 75313245G> C null L V 764 764 missense 0.015 benign 0.4 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs749090836 6q14.1 6 75313242T> G null T P 765 765 missense 0.024 benign 0.3 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs146644501 6q14.1 6 75313238A> C null M R 766 766 missense 0.001 benign 0.57 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1197468939 6q14.1 6 75313239T> C null M V 766 766 missense 0.001 benign 0.43 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC rs755154067 6q14.1 6 75313227A> G null W R 770 770 missense 0.443 benign 0.14 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs867896706 6q14.1 6 75313221G> A null P S 772 772 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs184534406 6q14.1 6 75313213C> T null M I 774 774 3.99E-4 missense 0.015 benign 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA rs780053107 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313205C> T null R K 777 777 missense 0.003 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA rs758951374 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313203C> T null E K 778 778 missense 0.493 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs750947467 6q14.1 6 75313197C> G null G R 780 780 missense 0.097 benign 0.45 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs750947467 6q14.1 6 75313197C> T null G S 780 780 missense 0.001 benign 0.56 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1207994349 6q14.1 6 75313193G> A null P L 781 781 missense 0.001 benign 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs765750626 6q14.1 6 75313194G> A null P S 781 781 missense 0.003 benign 0.38 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1476893316 6q14.1 6 75313188T> C null I V 783 783 missense 0.0 benign 0.35 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs757601616 6q14.1 6 75313185T> A null T S 784 784 missense 0.001 benign 0.64 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1224908241 6q14.1 6 75313178T> C null E G 786 786 missense 0.028 benign 0.28 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs763857606 6q14.1 6 75313169G> A null P L 789 789 missense 0.001 benign 0.31 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs775141616 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:376 6q14.1 6 75313167G> A null R * 790 790 missense 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144188799 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313166C> T null R Q 790 790 missense 0.331 benign 0.36 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs867134216 6q14.1 6 75313157G> A null S F 793 793 missense 0.139 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562437771 6q14.1 6 75313154C> T null S N 794 794 missense 0.006 benign 0.96 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs774205816 6q14.1 6 75313152G> T null P T 795 795 missense 0.0 benign 0.39 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs201741737 6q14.1 6 75313148C> T null G E 796 796 missense 0.001 benign 0.32 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP rs140528948 6q14.1 6 75313146G> T null H N 797 797 missense 0.045 benign 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1279967555 6q14.1 6 75313131C> T null V I 802 802 missense 0.354 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs770871525 6q14.1 6 75313128G> A null L F 803 803 missense 0.873 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs749117716 6q14.1 6 75313127A> C null L R 803 803 missense 0.905 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs772945543 6q14.1 6 75313122G> A null P S 805 805 missense 0.392 benign 0.21 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1227398173 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313106G> A null P L 810 810 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1259762052 6q14.1 6 75313099A> T null H Q 812 812 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs768883198 6q14.1 6 75313101G> A null H Y 812 812 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs747170419 6q14.1 6 75313097A> C null I S 813 813 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs780306921 cosmic curated [Cosmic]: skin pubmed:22622578,cosmic_study:388 6q14.1 6 75313095G> A null R * 814 814 missense 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1265762848 6q14.1 6 75313094C> T null R Q 814 814 missense 0.895 possibly damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs554789463 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313088G> A null T I 816 816 2.0E-4 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs932490879 6q14.1 6 75313086G> A null P S 817 817 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs745925832 6q14.1 6 75313080G> C null H D 819 819 missense 0.461 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1449664723 6q14.1 6 75313079T> A null H L 819 819 missense 0.341 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs754267328 6q14.1 6 75313076T> C null E G 820 820 missense 0.0 benign 0.5 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs757733034 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313077C> T null E K 820 820 missense 0.048 benign 0.78 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs757733034 6q14.1 6 75313077C> G null E Q 820 820 missense 0.006 benign 0.58 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs778214898 6q14.1 6 75313065C> T null A T 824 824 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs756540736 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75313064G> A null A V 824 824 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1443851443 6q14.1 6 75313058A> G null L S 826 826 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs192211658 6q14.1 6 75313053T> C null I V 828 828 2.0E-4 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs370738613 6q14.1 6 75313049G> A null T I 829 829 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs370738613 6q14.1 6 75313049G> C null T R 829 829 missense 0.275 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1461414201 6q14.1 6 75313046C> G null S T 830 830 missense 0.752 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs766253801 6q14.1 6 75313043G> A null P L 831 831 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1486648298 6q14.1 6 75313038A> G null S P 833 833 missense 0.001 benign 0.1 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs915662917 6q14.1 6 75313014T> C null T A 841 841 missense 0.003 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1408895848 6q14.1 6 75313013G> T null T N 841 841 missense 0.623 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs772998565 6q14.1 6 75313008T> A null I F 843 843 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs772998565 6q14.1 6 75313008T> C null I V 843 843 missense 0.696 possibly damaging 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1359243678 6q14.1 6 75313004G> T null P H 844 844 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1316319190 6q14.1 6 75313001G> T null T N 845 845 missense 0.085 benign 0.62 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs769646664 6q14.1 6 75312999A> T null L I 846 846 missense 0.368 benign 0.3 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs775611684 6q14.1 6 75312983G> C null P R 851 851 missense 0.67 possibly damaging 0.63 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs745952748 6q14.1 6 75312972T> C null I V 855 855 missense 0.966 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1230820475 6q14.1 6 75312968A> G null I T 856 856 missense 0.616 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1364348569 6q14.1 6 75312965G> A null P L 857 857 missense 0.98 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1364348569 6q14.1 6 75312965G> T null P Q 857 857 missense 0.338 benign 0.78 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,gnomAD rs556847747 6q14.1 6 75312963A> T null S T 858 858 2.0E-4 missense 0.005 benign 0.53 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs902155548 6q14.1 6 75312960G> C null P A 859 859 missense 0.007 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778992996 6q14.1 6 75312959G> T null P Q 859 859 missense 0.65 possibly damaging 0.3 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778992996 6q14.1 6 75312959G> C null P R 859 859 missense 0.65 possibly damaging 0.28 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs902155548 6q14.1 6 75312960G> A null P S 859 859 missense 0.028 benign 0.66 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1165354724 6q14.1 6 75312953A> G null V A 861 861 missense 0.001 benign 0.48 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs538214169 6q14.1 6 75312954C> A null V F 861 861 2.0E-4 missense 0.012 benign 0.2 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs538214169 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75312954C> T null V I 861 861 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs538214169 6q14.1 6 75312954C> G null V L 861 861 2.0E-4 missense 0.003 benign 0.45 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1427768290 6q14.1 6 75312949C> T null M I 862 862 missense 0.0 benign 0.31 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1427768290 6q14.1 6 75312949C> G null M I 862 862 missense 0.0 benign 0.31 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1198297181 6q14.1 6 75312939G> T null Q K 866 866 missense 0.0 benign 0.71 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs756597851 6q14.1 6 75312930C> T null G R 869 869 missense 0.001 benign 0.37 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs753081715 6q14.1 6 75312929C> A null G V 869 869 missense 0.007 benign 0.28 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC rs780739578 6q14.1 6 75312923G> A null T I 871 871 missense 0.01 benign 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC rs780739578 6q14.1 6 75312923G> T null T N 871 871 missense 0.0 benign 0.32 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1338023278 NCI-TCGA Cosmic [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22832583,cosmic_study:379 6q14.1 6 75312905C> T null R Q 877 877 missense 0.184 benign 0.36 tolerated 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs765850763 6q14.1 6 75312898C> T null M I 879 879 missense 0.007 benign 0.55 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs751049238 6q14.1 6 75312899A> G null M T 879 879 missense 0.007 benign 0.31 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1476710940 6q14.1 6 75312888T> G null T P 883 883 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,gnomAD rs377504805 6q14.1 6 75312860G> A null T I 892 892 missense 0.05 benign 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs750407136 6q14.1 6 75312861T> G null T P 892 892 missense 0.005 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs372671237 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 6q14.1 6 75312849C> T null G R 896 896 missense 0.449 possibly damaging 0.24 tolerated 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1376838696 6q14.1 6 75312842C> T null G D 898 898 missense 0.027 benign 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1305806948 6q14.1 6 75312843C> T null G S 898 898 missense 0.0 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs962312690 6q14.1 6 75312840C> A null A S 899 899 missense 0.005 benign 0.99 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs962312690 6q14.1 6 75312840C> T null A T 899 899 missense 0.0 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1395676018 6q14.1 6 75312828T> C null R G 903 903 missense 0.077 benign 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1463049213 6q14.1 6 75312824G> A null P L 904 904 missense 0.005 benign 0.16 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34807169 6q14.1 6 75312825G> A null P S 904 904 0.03015 missense 0.103 benign 0.36 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34807169 6q14.1 6 75312825G> T null P T 904 904 0.03015 missense 0.015 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs774430800 6q14.1 6 75312819A> T null S T 906 906 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs370253937 6q14.1 6 75312816G> C null P A 907 907 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs749359869 6q14.1 6 75312813T> A null I F 908 908 missense 0.288 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs749359869 6q14.1 6 75312813T> G null I L 908 908 missense 0.005 benign 0.21 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs778465988 6q14.1 6 75312811A> C null I M 908 908 missense 0.379 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs749359869 6q14.1 6 75312813T> C null I V 908 908 missense 0.001 benign 0.59 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,gnomAD rs528225863 6q14.1 6 75312810G> C null Q E 909 909 7.99E-4 missense 0.392 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1436492102 6q14.1 6 75312803A> G null M T 911 911 missense 0.007 benign 0.07 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs201450409 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6q14.1 6 75312800G> A null T M 912 912 missense 0.95 probably damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs746745541 6q14.1 6 75312795A> T null S T 914 914 missense 0.015 benign 0.5 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1346046945 6q14.1 6 75312791G> T null T K 915 915 missense 0.722 possibly damaging 0.05 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs757941734 6q14.1 6 75312783C> A null A S 918 918 missense 0.061 benign 0.89 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1285499915 6q14.1 6 75312779G> A null P L 919 919 missense 0.219 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1448784795 6q14.1 6 75312774C> T null E K 921 921 missense 0.199 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs767566641 6q14.1 6 75312771T> A null I F 922 922 missense 0.036 benign 0.27 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1346317071 6q14.1 6 75312765C> A null V F 924 924 missense 0.535 possibly damaging 0.73 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs765178508 6q14.1 6 75312762A> T null S T 925 925 missense 0.871 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs868522742 6q14.1 6 75312758G> A null P L 926 926 missense 0.077 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs757124319 6q14.1 6 75312759G> A null P S 926 926 missense 0.132 benign 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1335511992 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 6q14.1 6 75312756C> T null E K 927 927 missense 0.273 benign 0.0 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1335511992 6q14.1 6 75312756C> G null E Q 927 927 missense 0.09 benign 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1396067862 6q14.1 6 75312747C> T null E K 930 930 missense 0.493 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs766680260 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75312737A> T null M K 933 933 missense 0.039 benign 0.29 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs148756313 6q14.1 6 75312738T> G null M L 933 933 missense 0.0 benign 0.49 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs148756313 6q14.1 6 75312738T> C null M V 933 933 missense 0.006 benign 0.42 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1171618200 6q14.1 6 75312734C> G null G A 934 934 missense 0.913 probably damaging 0.11 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs531018423 6q14.1 6 75312731C> A null R L 935 935 2.0E-4 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs531018423 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75312731C> T null R Q 935 935 2.0E-4 missense 0.434 benign 0.22 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201283216 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75312732G> A null R W 935 935 2.0E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1321146659 6q14.1 6 75312729T> A null T S 936 936 missense 0.097 benign 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs770441125 6q14.1 6 75312723G> C null L V 938 938 missense 0.001 benign 0.05 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs920705479 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75312716A> T null V D 940 940 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1440076087 6q14.1 6 75312717C> A null V F 940 940 missense 0.677 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1157657019 6q14.1 6 75312713G> A null T I 941 941 missense 0.321 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562435796 6q14.1 6 75312705T> C null K E 944 944 missense 0.692 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1232867829 6q14.1 6 75312699T> A null T S 946 946 missense 0.0 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1203103022 6q14.1 6 75312693G> T null P T 948 948 missense 0.056 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs760560602 6q14.1 6 75312687G> C null P A 950 950 missense 0.005 benign 0.59 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1461873246 6q14.1 6 75312684C> T null V I 951 951 missense 0.0 benign 0.41 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,TOPMed,gnomAD rs144029973 6q14.1 6 75312680C> T null R Q 952 952 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs369831904 cosmic curated [Cosmic]: liver pubmed:23788652,cosmic_study:527 6q14.1 6 75312681G> A null R W 952 952 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1203651088 6q14.1 6 75312666T> C null N D 957 957 missense 0.715 possibly damaging 0.17 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1349630739 6q14.1 6 75312662G> C null A G 958 958 missense 0.313 benign 0.23 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs199738513 6q14.1 6 75312659T> C null N S 959 959 missense 0.009 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1267574469 6q14.1 6 75312641T> A null D V 965 965 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1236097642 6q14.1 6 75312638T> C null N S 966 966 missense 0.925 probably damaging 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562435528 6q14.1 6 75312627T> A null I F 970 970 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs375230665 6q14.1 6 75312617C> G null G A 973 973 missense 0.866 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs779709773 6q14.1 6 75312615A> C null S A 974 974 missense 0.005 benign 0.1 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1268558002 cosmic curated [Cosmic]: large_intestine cosmic_study:375 6q14.1 6 75312602C> T null R Q 978 978 missense 0.028 benign 1.0 tolerated 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138096288 6q14.1 6 75312603G> A null R W 978 978 5.99E-4 missense 0.033 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs745391619 6q14.1 6 75312599G> T null S Y 979 979 missense 0.423 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1383909339 6q14.1 6 75312587G> T null S * 983 983 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1031817327 6q14.1 6 75312588A> C null S A 983 983 missense 0.0 benign 0.47 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1031817327 6q14.1 6 75312588A> T null S T 983 983 missense 0.0 benign 0.52 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1183563976 6q14.1 6 75312584C> A null G V 984 984 missense 0.001 benign 0.67 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs756716893 6q14.1 6 75312580T> G null E D 985 985 missense 0.001 benign 0.37 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs756716893 6q14.1 6 75312580T> A null E D 985 985 missense 0.001 benign 0.37 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1191238793 6q14.1 6 75312572C> G null S T 988 988 missense 0.013 benign 0.43 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562435265 6q14.1 6 75312567C> T null V I 990 990 missense 0.015 benign 0.42 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1455610132 6q14.1 6 75312560G> A null T I 992 992 missense 0.212 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1357072246 6q14.1 6 75312557A> G null V A 993 993 missense 0.041 benign 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs752395530 cosmic curated [Cosmic]: salivary_gland pubmed:23685749,cosmic_study:489 6q14.1 6 75312555G> A null R * 994 994 missense 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs766731465 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6q14.1 6 75312554C> T null R Q 994 994 missense 0.691 possibly damaging 0.17 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1384307742 6q14.1 6 75312549C> T null V I 996 996 missense 0.013 benign 0.38 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1326647237 6q14.1 6 75312542A> C null V G 998 998 missense 0.003 benign 0.37 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs773434761 6q14.1 6 75312543C> A null V L 998 998 missense 0.0 benign 0.36 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs773434761 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6q14.1 6 75312543C> T null V M 998 998 missense 0.075 benign 0.13 tolerated 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs761789063 6q14.1 6 75312533T> G null E A 1001 1001 missense 0.154 benign 0.2 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs868698674 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6q14.1 6 75312534C> T null E K 1001 1001 missense 0.343 benign 0.24 tolerated 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1235248262 6q14.1 6 75312530T> C null K R 1002 1002 missense 0.001 benign 0.3 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777247267 6q14.1 6 75312526C> G null E D 1003 1003 missense 0.013 benign 0.36 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC rs377318130 6q14.1 6 75312525C> A null V F 1004 1004 missense 0.118 benign 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC rs377318130 6q14.1 6 75312525C> G null V L 1004 1004 missense 0.01 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,dbSNP,gnomAD rs374887916 6q14.1 6 75312516C> G null G R 1007 1007 missense 0.869 possibly damaging 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs374887916 6q14.1 6 75312516C> T null G S 1007 1007 missense 0.108 benign 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778523737 6q14.1 6 75312513T> G null T P 1008 1008 missense 0.029 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778523737 6q14.1 6 75312513T> A null T S 1008 1008 missense 0.257 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1488362044 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75312507G> A null L F 1010 1010 missense 0.753 possibly damaging 0.11 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs748714654 6q14.1 6 75312504G> A null R C 1011 1011 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1253086109 6q14.1 6 75312503C> T null R H 1011 1011 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs748714654 6q14.1 6 75312504G> T null R S 1011 1011 missense 0.24 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1489779742 6q14.1 6 75312486G> C null L V 1017 1017 missense 0.0 benign 0.43 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs573667318 6q14.1 6 75312483A> G null S P 1018 1018 missense 0.015 benign 0.52 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147434989 6q14.1 6 75312476C> T null R Q 1020 1020 5.99E-4 missense 0.09 benign 0.15 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200365491 6q14.1 6 75312477G> A null R W 1020 1020 3.99E-4 missense 0.739 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs754821014 6q14.1 6 75312473G> C null P R 1021 1021 missense 0.005 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1213459483 6q14.1 6 75312468C> T null A T 1023 1023 missense 0.0 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1350326511 6q14.1 6 75312464C> A null S I 1024 1024 missense 0.068 benign 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs142674783 6q14.1 6 75312460T> G null K N 1025 1025 missense 0.444 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1047582019 6q14.1 6 75312459C> T null V M 1026 1026 missense 0.037 benign 0.29 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35227190 6q14.1 6 75312455G> A null T M 1027 1027 0.004593 missense 0.125 benign 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1410724466 6q14.1 6 75312453T> A null S C 1028 1028 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs866402503 6q14.1 6 75312444T> G null T P 1031 1031 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs764671310 6q14.1 6 75312441T> G null I L 1032 1032 missense 0.832 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs764671310 6q14.1 6 75312441T> C null I V 1032 1032 missense 0.832 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs764197668 6q14.1 6 75312437G> C null T R 1033 1033 missense 0.905 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs761016712 6q14.1 6 75312435G> C null P A 1034 1034 missense 0.76 possibly damaging 0.05 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs763126633 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75312434G> A null P L 1034 1034 missense 0.637 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs763126633 6q14.1 6 75312434G> T null P Q 1034 1034 missense 0.469 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs775970649 6q14.1 6 75312432C> A null V F 1035 1035 missense 0.186 benign 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs772482521 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 6q14.1 6 75312425G> A null T M 1037 1037 missense 0.017 benign 0.0 deleterious 1 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs774030831 6q14.1 6 75312414G> A null R * 1041 1041 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs770451999 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75312413C> T null R Q 1041 1041 missense 0.75 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777090787 6q14.1 6 75312407G> T null T N 1043 1043 missense 0.738 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs777090787 6q14.1 6 75312407G> C null T S 1043 1043 missense 0.091 benign 0.88 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs915922571 6q14.1 6 75312401G> A null S L 1045 1045 missense 0.003 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1188168483 6q14.1 6 75312398A> G null V A 1046 1046 missense 0.0 benign 0.25 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs778034226 6q14.1 6 75308893C> G null G A 1048 1048 missense 0.006 benign 0.72 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs749529447 6q14.1 6 75308894C> T null G R 1048 1048 missense 0.467 possibly damaging 0.19 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed,gnomAD rs1215497405 6q14.1 6 75308885C> T null G R 1051 1051 missense 0.026 benign 0.5 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1015829667 6q14.1 6 75308878G> A null S F 1053 1053 missense 0.365 benign 0.82 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562429173 6q14.1 6 75308879A> G null S P 1053 1053 missense 0.0 benign 0.33 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs755421983 6q14.1 6 75308872C> T null R Q 1055 1055 missense 0.92 probably damaging 0.05 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369386052 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6q14.1 6 75308873G> A null R W 1055 1055 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562429107 6q14.1 6 75308870G> C null P A 1056 1056 missense 0.015 benign 0.39 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562429074 6q14.1 6 75308867T> C null T A 1057 1057 missense 0.0 benign 0.78 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs888526210 6q14.1 6 75308863G> A null P L 1058 1058 missense 0.0 benign 0.51 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs888526210 6q14.1 6 75308863G> C null P R 1058 1058 missense 0.149 benign 0.07 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs766720526 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75308858G> A null R C 1060 1060 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,NCI-TCGA,TOPMed,gnomAD rs147152005 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75308857C> T null R H 1060 1060 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141676250 6q14.1 6 75308849T> G null M L 1063 1063 3.99E-4 missense 0.0 benign 0.3 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs1562428967 6q14.1 6 75308839C> T null G D 1066 1066 missense 0.648 possibly damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs772793365 6q14.1 6 75308837T> C null M V 1067 1067 missense 0.028 benign 0.16 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1362254393 6q14.1 6 75308833T> C null K R 1068 1068 missense 0.714 possibly damaging 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs761442839 6q14.1 6 75308830G> C null A G 1069 1069 missense 0.058 benign 0.06 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs764955196 6q14.1 6 75308831C> T null A T 1069 1069 missense 0.003 benign 1.0 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c Ensembl rs905214360 6q14.1 6 75308824T> C null K R 1071 1071 missense 0.616 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs776219952 6q14.1 6 75308821G> A null P L 1072 1072 missense 0.023 benign 0.37 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs768717241 6q14.1 6 75308816C> T null V M 1074 1074 missense 0.007 benign 0.13 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs747006280 6q14.1 6 75308813C> T null A T 1075 1075 missense 0.193 benign 0.3 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs775482186 6q14.1 6 75308809G> T null A D 1076 1076 missense 0.147 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs775482186 6q14.1 6 75308809G> C null A G 1076 1076 missense 0.035 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1186788286 6q14.1 6 75308807G> C null P A 1077 1077 missense 0.006 benign 0.86 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1308845571 6q14.1 6 75308801C> T null A T 1079 1079 missense 0.0 benign 0.32 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs777887172 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75308798C> T null G R 1080 1080 missense 0.881 possibly damaging 0.09 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs756278620 6q14.1 6 75308795T> A null N Y 1081 1081 missense 0.459 possibly damaging 0.17 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs781184540 6q14.1 6 75308789T> C null T A 1083 1083 missense 0.0 benign 0.2 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs766890609 6q14.1 6 75308774G> A null R * 1088 1088 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs766890609 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75308774G> C null R G 1088 1088 missense 0.605 possibly damaging 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs148016136 6q14.1 6 75308773C> T null R Q 1088 1088 missense 0.737 possibly damaging 0.05 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1400863022 6q14.1 6 75308770G> A null A V 1089 1089 missense 0.575 possibly damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs986742538 6q14.1 6 75308768C> T null E K 1090 1090 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs750762407 6q14.1 6 75308765T> G null T P 1091 1091 missense 0.063 benign 0.02 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1439954724 6q14.1 6 75308762G> A null Q * 1092 1092 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,TOPMed rs143331565 6q14.1 6 75308760C> G null Q H 1092 1092 missense 0.031 benign 0.11 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs531595086 6q14.1 6 75308756T> A null M L 1094 1094 2.0E-4 missense 0.003 benign 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs531595086 6q14.1 6 75308756T> C null M V 1094 1094 2.0E-4 missense 0.0 benign 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1366096672 6q14.1 6 75308753T> A null K * 1095 1095 stop gained 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs776414914 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 75308748T> C null I M 1096 1096 missense 0.202 benign 0.04 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ESP,ExAC,gnomAD rs368516482 6q14.1 6 75308724G> C null S R 1104 1104 missense 0.0 benign 0.18 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1478608142 6q14.1 6 75308717T> C null T A 1107 1107 missense 0.0 benign 0.82 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs772003968 6q14.1 6 75308713G> C null S C 1108 1108 missense 0.001 benign 0.18 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,gnomAD rs772003968 6q14.1 6 75308713G> A null S F 1108 1108 missense 0.001 benign 0.72 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1377307269 6q14.1 6 75308711G> A null L F 1109 1109 missense 0.07 benign 0.71 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c gnomAD rs1353917963 6q14.1 6 75308710A> C null L R 1109 1109 missense 0.017 benign 0.41 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c TOPMed rs1307275698 6q14.1 6 75308708C> T null G R 1110 1110 missense 0.52 possibly damaging 0.03 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145901023 6q14.1 6 75308704C> G null G A 1111 1111 3.99E-4 missense 0.193 benign 0.12 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145901023 6q14.1 6 75308704C> T null G E 1111 1111 3.99E-4 missense 0.454 possibly damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138460165 6q14.1 6 75308705C> G null G R 1111 1111 5.99E-4 missense 0.028 benign 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145901023 6q14.1 6 75308704C> A null G V 1111 1111 3.99E-4 missense 0.028 benign 0.07 tolerated 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138460165 6q14.1 6 75308705C> A null G W 1111 1111 5.99E-4 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B6G6 FILIP1 Filamin A interacting protein 1, isoform CRA_c ExAC,TOPMed,gnomAD rs758893145 6q14.1 6 75308702C> G null G R 1112 1112 missense 0.85 possibly damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs866220837 1p32.2 1 57291021C> T null E K 4 4 missense 0.959 probably damaging 0.01 deleterious - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs267598675 1p32.2 1 57291015C> T null E K 6 6 missense 0.959 probably damaging 0.0 deleterious - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs998926328 1p32.2 1 57291012G> A null L F 7 7 missense 0.988 probably damaging 0.11 tolerated - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1459280149 1p32.2 1 57291009G> T null Q K 8 8 missense 0.712 possibly damaging 0.12 tolerated - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1322038163 1p32.2 1 57291005A> G null V A 9 9 missense 0.135 benign 1.0 tolerated - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1398519060 1p32.2 1 57291006C> T null V I 9 9 missense 0.777 possibly damaging 0.32 tolerated - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed,gnomAD rs943814270 1p32.2 1 57291000C> A null V L 11 11 missense 0.858 possibly damaging 0.34 tolerated - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1381338541 1p32.2 1 57290996T> C null K R 12 12 missense 0.348 benign 0.45 tolerated - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1158836710 1p32.2 1 57290991T> C null S G 14 14 missense 0.084 benign 0.18 tolerated - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376587394 1p32.2 1 57290988C> T null A T 15 15 2.0E-4 missense 0.015 benign 0.72 tolerated - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1186990725 1p32.2 1 57290985T> C null K E 16 16 missense 0.897 possibly damaging 0.24 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs866372534 1p32.2 1 57290979C> T null D N 18 18 missense 0.547 possibly damaging 0.11 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1332414157 1p32.2 1 57290975G> A null S F 19 19 missense 0.981 probably damaging 0.06 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs760458971 1p32.2 1 57290966T> A null K I 22 22 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1324760547 1p32.2 1 57145429C> A null G V 23 23 missense 0.999 probably damaging 0.11 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs773986907 1p32.2 1 57145421G> C null R G 26 26 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs559018567 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57145420C> T null R H 26 26 2.0E-4 missense 0.984 probably damaging 0.04 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1368147991 1p32.2 1 57145417C> A null S I 27 27 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1368147991 1p32.2 1 57145417C> T null S N 27 27 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ExAC,gnomAD rs200335453 1p32.2 1 57145412C> T null A T 29 29 2.0E-4 missense 0.981 probably damaging 0.14 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ExAC rs201262539 1p32.2 1 57145411G> A null A V 29 29 2.0E-4 missense 0.981 probably damaging 0.03 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs747434589 1p32.2 1 57145403T> G null I L 32 32 missense 0.641 possibly damaging 1.0 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs146307511 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 1p32.2 1 57145398C> A null K N 33 33 missense 0.93 probably damaging 0.07 tolerated 1 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs778042089 1p32.2 1 57145399T> C null K R 33 33 missense 0.348 benign 0.41 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1188127165 1p32.2 1 57145396C> T null R K 34 34 missense 0.8 possibly damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs778893719 1p32.2 1 57145391T> C null K E 36 36 missense 0.959 probably damaging 0.06 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs778893719 1p32.2 1 57145391T> G null K Q 36 36 missense 0.974 probably damaging 0.27 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs753957444 1p32.2 1 57145388C> T null G S 37 37 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs780353926 1p32.2 1 57145379C> T null V I 40 40 missense 0.777 possibly damaging 0.06 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs756329038 1p32.2 1 57145375C> A null R L 41 41 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs756329038 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57145375C> T null R Q 41 41 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed,gnomAD rs867031010 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57145376G> A null R W 41 41 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1463148688 1p32.2 1 57145372T> A null Y F 42 42 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed,gnomAD rs1275806575 1p32.2 1 57145359C> G null L F 46 46 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs751548443 1p32.2 1 57145351A> G null I T 49 49 missense 0.85 possibly damaging 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1196540942 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57145349C> T null D N 50 50 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs763640550 1p32.2 1 57145339G> A null S F 53 53 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs774969457 1p32.2 1 57145337C> T null A T 54 54 missense 0.982 probably damaging 0.08 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs867646067 1p32.2 1 57145334C> T null A T 55 55 missense 0.981 probably damaging 0.04 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs769458455 1p32.2 1 57145322T> A null K * 59 59 stop gained 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC rs759162788 1p32.2 1 57145321T> C null K R 59 59 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1160502425 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57145315C> T null C Y 61 61 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs773619574 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57145312T> C null Q R 62 62 missense 0.806 possibly damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1172508637 1p32.2 1 57145304T> C null M V 65 65 missense 0.524 possibly damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed,gnomAD rs1432751295 1p32.2 1 57145299C> T null M I 66 66 missense 0.524 possibly damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs776275848 1p32.2 1 57136640C> T null G D 70 70 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs776275848 1p32.2 1 57136640C> A null G V 70 70 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1855377 1p32.2 1 57136638C> T null V I 71 71 0.007788 missense 0.036 benign 0.35 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1213636754 1p32.2 1 57136632C> A null A S 73 73 missense 0.97 probably damaging 0.18 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151141316 1p32.2 1 57136626C> A null A S 75 75 3.99E-4 missense 0.841 possibly damaging 0.06 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs151141316 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57136626C> T null A T 75 75 3.99E-4 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1414685306 1p32.2 1 57136623G> A null R C 76 76 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs530738424 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57136622C> T null R H 76 76 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed,gnomAD rs1338074108 1p32.2 1 57136608G> A null H Y 81 81 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs781589133 1p32.2 1 57136587T> C null T A 88 88 missense 0.822 possibly damaging 0.03 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs757081851 1p32.2 1 57136586G> A null T I 88 88 missense 0.824 possibly damaging 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs565043718 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57136584T> C null I V 89 89 3.99E-4 missense 0.007 benign 0.51 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs267598674 1p32.2 1 57136580G> A null S F 90 90 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1416524109 1p32.2 1 57136568A> C null I S 94 94 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1454329445 1p32.2 1 57136544C> G null G A 102 102 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1454329445 1p32.2 1 57136544C> T null G E 102 102 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1407658882 1p32.2 1 57136545C> T null G R 102 102 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs1557653828 1p32.2 1 57062943C> T null V I 103 103 missense 0.98 probably damaging 0.12 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs796337034 1p32.2 1 57062936G> A null T I 105 105 missense 0.316 benign 0.32 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed rs755221243 1p32.2 1 57062937T> G null T P 105 105 missense 0.963 probably damaging 0.06 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs749474122 1p32.2 1 57062934T> C null S G 106 106 missense 0.882 possibly damaging 0.32 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1450874550 1p32.2 1 57062933C> T null S N 106 106 missense 0.962 probably damaging 0.56 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1444135337 1p32.2 1 57062918C> T null G D 111 111 missense 0.99 probably damaging 0.93 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1340689051 1p32.2 1 57062898T> C null S G 118 118 missense 0.448 possibly damaging 0.04 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs755994050 1p32.2 1 57062894T> C null Q R 119 119 missense 0.37 benign 1.0 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141893131 1p32.2 1 57062889C> T null V I 121 121 missense 0.006 benign 0.79 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141893131 1p32.2 1 57062889C> G null V L 121 121 missense 0.033 benign 0.32 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs1557653615 1p32.2 1 57062885C> T null S N 122 122 missense 0.723 possibly damaging 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs752359113 1p32.2 1 57033566T> G null Y S 125 125 missense 0.006 benign 0.34 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs764844188 1p32.2 1 57033563G> A null S L 126 126 missense 0.0 benign 0.1 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs556974571 1p32.2 1 57033560A> G null F S 127 127 9.98E-4 missense 0.029 benign 0.39 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,NCI-TCGA,gnomAD rs767870898 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57033555C> T null D N 129 129 missense 0.0 benign 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs1557592488 1p32.2 1 57033550A> C null F L 130 130 missense 0.115 benign 0.77 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs762321621 1p32.2 1 57033549C> T null E K 131 131 missense 0.031 benign 0.08 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs768740738 1p32.2 1 57033542C> T null R Q 133 133 missense 0.776 possibly damaging 0.22 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs780804306 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57033543G> A null R W 133 133 missense 0.942 probably damaging 0.04 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1394999075 1p32.2 1 57033527G> A null T I 138 138 missense 0.0 benign 0.02 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1443067866 1p32.2 1 57033525G> C null P A 139 139 missense 0.981 probably damaging 1.0 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs749296993 1p32.2 1 57033524G> A null P L 139 139 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1443067866 1p32.2 1 57033525G> A null P S 139 139 missense 0.986 probably damaging 0.19 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs753500539 1p32.2 1 57033424G> C null L V 143 143 missense 0.0 benign 0.07 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs868806500 1p32.2 1 57033421G> T null P T 144 144 missense 0.01 benign 0.07 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs1557592101 1p32.2 1 57033414T> C null D G 146 146 missense 0.44 benign 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1228763001 1p32.2 1 57033396T> A null E V 152 152 missense 0.037 benign 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1285471639 1p32.2 1 57033394C> G null A P 153 153 missense 0.267 benign 0.11 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1378386677 1p32.2 1 57033393G> A null A V 153 153 missense 0.001 benign 0.57 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs767819309 1p32.2 1 57033390G> A null T M 154 154 missense 0.155 benign 0.1 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1225472372 1p32.2 1 57033391T> G null T P 154 154 missense 0.065 benign 0.31 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1013614255 1p32.2 1 57033387T> A null K M 155 155 missense 0.548 possibly damaging 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs79453268 1p32.2 1 57026033T> G null Q P 159 159 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1165600535 1p32.2 1 57026027T> C null E G 161 161 missense 0.115 benign 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1297434622 1p32.2 1 57026021A> G null F S 163 163 missense 0.181 benign 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs759724983 1p32.2 1 57026018C> T null G E 164 164 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs893620084 1p32.2 1 57026012A> G null M T 166 166 missense 0.023 benign 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed,gnomAD rs1431694448 1p32.2 1 57026009G> A null S F 167 167 missense 0.447 possibly damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1424652814 1p32.2 1 57026003G> T null P H 169 169 missense 0.601 possibly damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs776895180 1p32.2 1 57026000G> A null P L 170 170 missense 0.125 benign 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs1557574844 1p32.2 1 57026001G> A null P S 170 170 missense 0.005 benign 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs190280115 1p32.2 1 57025995T> C null I V 172 172 2.0E-4 missense 0.0 benign 0.22 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs761020175 1p32.2 1 57025992T> A null T S 173 173 missense 0.081 benign 0.46 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs748027334 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57025986G> C null P A 175 175 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1206615214 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57025985G> A null P L 175 175 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs748027334 1p32.2 1 57025986G> A null P S 175 175 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs774314688 1p32.2 1 57025982G> C null P R 176 176 missense 0.525 possibly damaging 0.03 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1329779234 1p32.2 1 57023639T> A null T S 177 177 missense 0.103 benign 0.41 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs532864586 1p32.2 1 57023633C> T null A T 179 179 0.001997 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1378502203 1p32.2 1 57023630T> C null T A 180 180 missense 0.207 benign 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs760797421 1p32.2 1 57023623C> G null G A 182 182 missense 0.027 benign 1.0 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs760797421 1p32.2 1 57023623C> T null G D 182 182 missense 0.855 possibly damaging 0.1 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ESP,TOPMed,gnomAD rs143177458 1p32.2 1 57023617G> C null A G 184 184 missense 0.533 possibly damaging 0.08 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ESP,TOPMed,gnomAD rs143177458 1p32.2 1 57023617G> A null A V 184 184 missense 0.376 benign 0.23 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1158907424 1p32.2 1 57023606A> G null S P 188 188 missense 0.001 benign 0.19 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs767187448 1p32.2 1 57023602G> A null S L 189 189 missense 0.943 probably damaging 0.21 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs149218415 1p32.2 1 57023593G> T null T N 192 192 missense 0.04 benign 0.5 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138384213 1p32.2 1 57023588G> A null P S 194 194 0.001597 missense 0.556 possibly damaging 0.45 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs768523539 1p32.2 1 57023584G> C null A G 195 195 missense 0.0 benign 0.21 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs768523539 1p32.2 1 57023584G> A null A V 195 195 missense 0.034 benign 0.2 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs769403012 1p32.2 1 57023573C> T null V M 199 199 missense 0.0 benign 0.34 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs1557568547 1p32.2 1 57023570A> C null F V 200 200 missense 0.081 benign 0.04 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34341631 cosmic curated [Cosmic]: large_intestine cosmic_study:376 1p32.2 1 57023566C> T null S N 201 201 0.005591 missense 0.014 benign 0.81 tolerated 1 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs756998409 1p32.2 1 57023560A> G null V A 203 203 missense 0.023 benign 0.23 tolerated - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed,gnomAD rs991105751 1p32.2 1 57023558G> C null P A 204 204 missense 0.034 benign 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs748471713 1p32.2 1 57023557G> A null P L 204 204 missense 0.174 benign 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed,gnomAD rs991105751 1p32.2 1 57023558G> A null P S 204 204 missense 0.005 benign 0.1 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed,gnomAD rs991105751 1p32.2 1 57023558G> T null P T 204 204 missense 0.113 benign 0.04 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed,gnomAD rs1001310743 1p32.2 1 57023551C> T null G D 206 206 missense 0.075 benign 0.18 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs200606976 1p32.2 1 57023552C> T null G S 206 206 missense 0.003 benign 0.95 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs754457394 1p32.2 1 57023545G> T null A D 208 208 missense 0.166 benign 0.03 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ESP,ExAC,gnomAD rs146722714 1p32.2 1 57023539A> G null V A 210 210 missense 0.142 benign 0.21 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1436357178 1p32.2 1 57023540C> T null V I 210 210 missense 0.007 benign 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs756260897 1p32.2 1 57023534A> G null S P 212 212 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1175218960 1p32.2 1 57015425A> G null V A 215 215 missense 0.763 possibly damaging 0.32 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs769195580 1p32.2 1 57015423C> T null A T 216 216 missense 0.039 benign 0.86 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs749729731 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57015414C> T null A T 219 219 missense 0.007 benign 0.11 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1341755331 1p32.2 1 57015408G> A null L F 221 221 missense 0.563 possibly damaging 0.35 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1254419870 1p32.2 1 57015404G> C null P R 222 222 missense 0.712 possibly damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1001472046 1p32.2 1 57015402A> G null S P 223 223 missense 0.719 possibly damaging 0.09 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1285796330 1p32.2 1 57015398A> C null F C 224 224 missense 0.949 probably damaging 0.19 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ESP,NCI-TCGA,gnomAD rs377760284 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57015392C> T null G D 226 226 missense 0.656 possibly damaging 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs757465267 1p32.2 1 57015393C> T null G S 226 226 missense 0.062 benign 0.47 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) Ensembl rs960187825 1p32.2 1 57015386T> G null Q P 228 228 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) TOPMed rs1236957679 1p32.2 1 57015384G> C null P A 229 229 missense 0.007 benign 0.3 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs865869141 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p32.2 1 57015383G> T null P H 229 229 missense 0.526 possibly damaging 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs865869141 1p32.2 1 57015383G> C null P R 229 229 missense 0.225 benign 0.0 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,TOPMed,gnomAD rs762774818 1p32.2 1 57015378C> T null V I 231 231 missense 0.464 possibly damaging 0.17 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1377962237 1p32.2 1 57015375G> T null Q K 232 232 missense 0.35 benign 0.1 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs374152781 1p32.2 1 57015374T> A null Q L 232 232 missense 0.28 benign 0.11 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs374152781 1p32.2 1 57015374T> C null Q R 232 232 missense 0.35 benign 0.08 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs765169580 1p32.2 1 57015359A> T null M K 237 237 missense 0.039 benign 0.01 deleterious 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1182995620 1p32.2 1 57015360T> C null M V 237 237 missense 0.006 benign 0.06 tolerated 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) gnomAD rs1254391310 1p32.2 1 57015354C> T null A T 239 239 missense 0.295 benign 0.0 deleterious - low confidence 0 A0A075B6G7 DAB1 Disabled homolog 1 (Fragment) ExAC,gnomAD rs759402184 1p32.2 1 57015353G> A null A V 239 239 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs866554517 6p21.1 6 43499012C> T null A V 4 4 missense 0.453 possibly damaging 0.09 tolerated - low confidence 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs777757437 6p21.1 6 43499014G> A null A T 5 5 missense 0.118 benign 0.24 tolerated - low confidence 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed,gnomAD rs969461091 6p21.1 6 43499015C> T null A V 5 5 missense 0.069 benign 0.07 tolerated - low confidence 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs751348112 6p21.1 6 43499020G> A null A T 7 7 missense 0.009 benign 0.09 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs745481384 6p21.1 6 43499030C> A null P H 10 10 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs745481384 6p21.1 6 43499030C> G null P R 10 10 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs376350781 6p21.1 6 43499029C> T null P S 10 10 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs779373071 6p21.1 6 43499035C> T null R C 12 12 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed,gnomAD rs1380777393 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6p21.1 6 43499036G> A null R H 12 12 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed rs962174012 6p21.1 6 43499041G> C null A P 14 14 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1294812197 6p21.1 6 43499042C> T null A V 14 14 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs748828012 6p21.1 6 43499045C> T null P L 15 15 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1260950800 6p21.1 6 43499050G> C null E Q 17 17 missense 0.015 benign 0.96 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1460702560 6p21.1 6 43499051A> T null E V 17 17 missense 0.572 possibly damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1203338070 6p21.1 6 43499055T> A null H Q 18 18 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs533514467 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.1 6 43499057G> A null R Q 19 19 2.0E-4 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs773748552 6p21.1 6 43499056C> T null R W 19 19 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1184812486 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.1 6 43499065C> T null R C 22 22 missense 0.979 probably damaging 0.0 deleterious 1 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs771385108 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung pubmed:22975805,cosmic_study:453 6p21.1 6 43499066G> A null R H 22 22 missense 0.232 benign 0.03 deleterious 1 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs777001618 6p21.1 6 43499076T> G null I M 25 25 missense 0.029 benign 0.21 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,TOPMed,gnomAD rs370439578 6p21.1 6 43499087G> A null R Q 29 29 missense 0.003 benign 0.24 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,NCI-TCGA,gnomAD rs61745289 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.1 6 43499086C> T null R W 29 29 missense 0.003 benign 0.02 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs765480255 6p21.1 6 43499095C> G null Q E 32 32 missense 0.079 benign 0.58 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed rs1279372588 6p21.1 6 43499097G> C null Q H 32 32 missense 0.003 benign 0.09 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs769944947 6p21.1 6 43500747C> G null P A 35 35 missense 0.04 benign 0.54 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs769944947 6p21.1 6 43500747C> T null P S 35 35 missense 0.003 benign 0.43 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed rs1444635001 6p21.1 6 43500757A> C null D A 38 38 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs775756440 6p21.1 6 43500760C> G null A G 39 39 missense 0.183 benign 0.24 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1301260745 6p21.1 6 43500759G> A null A T 39 39 missense 0.254 benign 0.19 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed rs905563274 6p21.1 6 43500771A> G null K E 43 43 missense 0.269 benign 0.02 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs760420145 6p21.1 6 43501527C> A null L I 44 44 missense 0.99 probably damaging 0.49 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1238429654 6p21.1 6 43501531T> C null L S 45 45 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs753448258 6p21.1 6 43501533C> T null Q * 46 46 stop gained 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs754721586 6p21.1 6 43501534A> G null Q R 46 46 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1307193042 6p21.1 6 43501536G> C null E Q 47 47 missense 0.0 benign 1.0 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371853334 6p21.1 6 43501541G> T null E D 48 48 missense 0.987 probably damaging 0.35 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371853334 6p21.1 6 43501541G> C null E D 48 48 missense 0.987 probably damaging 0.35 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148303279 6p21.1 6 43501539G> A null E K 48 48 2.0E-4 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs746342734 6p21.1 6 43501544T> A null N K 49 49 missense 0.994 probably damaging 0.19 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed rs1313484775 6p21.1 6 43501550G> T null E D 51 51 missense 0.987 probably damaging 0.43 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) Ensembl rs1214836 6p21.1 6 43501548G> A null E K 51 51 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs780406788 6p21.1 6 43501551C> T null L F 52 52 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs563916607 6p21.1 6 43501554C> T null R C 53 53 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs768989903 6p21.1 6 43501555G> A null R H 53 53 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs376480261 6p21.1 6 43501558G> T null R L 54 54 missense 0.363 benign 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs376480261 6p21.1 6 43501558G> A null R Q 54 54 missense 0.021 benign 0.07 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs138122245 6p21.1 6 43501557C> T null R W 54 54 missense 0.903 possibly damaging 0.02 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149220687 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.1 6 43501560C> T null R C 55 55 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140868873 6p21.1 6 43501561G> A null R H 55 55 0.002596 missense 0.996 probably damaging 0.05 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs149220687 6p21.1 6 43501560C> A null R S 55 55 missense 0.994 probably damaging 0.09 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141516214 6p21.1 6 43501572G> A null A T 59 59 missense 0.996 probably damaging 0.77 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs762580387 6p21.1 6 43501575A> G null T A 60 60 missense 0.987 probably damaging 0.1 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1242114562 6p21.1 6 43501576C> T null T I 60 60 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs763628452 6p21.1 6 43501581C> T null R C 62 62 missense 0.997 probably damaging 0.06 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370044590 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.1 6 43501582G> A null R H 62 62 3.99E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs756701243 6p21.1 6 43501585C> T null T I 63 63 missense 0.791 possibly damaging 0.23 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs780420679 6p21.1 6 43501591C> T null A V 65 65 missense 0.879 possibly damaging 0.29 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed rs1269813399 6p21.1 6 43501597A> T null E V 67 67 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs145980028 6p21.1 6 43501599C> T null R C 68 68 missense 0.966 probably damaging 0.07 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs183687141 6p21.1 6 43501600G> A null R H 68 68 9.98E-4 missense 0.117 benign 0.1 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs183687141 6p21.1 6 43501600G> T null R L 68 68 9.98E-4 missense 0.909 probably damaging 0.08 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs748305292 6p21.1 6 43501604G> C null E D 69 69 missense 0.987 probably damaging 0.14 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed,gnomAD rs909941880 6p21.1 6 43501603A> G null E G 69 69 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs779139446 6p21.1 6 43501602G> C null E Q 69 69 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs777970729 6p21.1 6 43501614G> A null G R 73 73 missense 0.982 probably damaging 0.06 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs770945294 6p21.1 6 43501621A> G null D G 75 75 missense 0.879 possibly damaging 0.19 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146174516 6p21.1 6 43501620G> A null D N 75 75 0.002995 missense 0.84 possibly damaging 0.28 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1342826410 6p21.1 6 43501624G> T null C F 76 76 missense 0.003 benign 1.0 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) Ensembl rs865887639 6p21.1 6 43501641G> A null G S 82 82 missense 0.893 possibly damaging 0.29 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141607775 6p21.1 6 43501650C> T null R C 85 85 missense 0.524 possibly damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs146187721 6p21.1 6 43501651G> A null R H 85 85 missense 0.524 possibly damaging 0.06 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs763714662 6p21.1 6 43501653G> A null E K 86 86 missense 0.125 benign 0.01 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed,gnomAD rs919080224 6p21.1 6 43501658G> C null E D 87 87 missense 0.001 benign 0.34 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC rs763823122 6p21.1 6 43501656G> A null E K 87 87 missense 0.073 benign 0.01 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1213051446 6p21.1 6 43501665A> G null K E 90 90 missense 0.066 benign 0.01 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs751147071 6p21.1 6 43501666A> G null K R 90 90 missense 0.098 benign 0.14 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1265210576 6p21.1 6 43501671A> C null K Q 92 92 missense 0.257 benign 0.23 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs761196615 6p21.1 6 43501675A> G null D G 93 93 missense 0.208 benign 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs766931520 6p21.1 6 43501677A> G null K E 94 94 missense 0.035 benign 0.01 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,gnomAD rs754260505 6p21.1 6 43501682C> A null F L 95 95 missense 0.0 benign 0.3 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed,gnomAD rs1377297730 6p21.1 6 43501680T> G null F V 95 95 missense 0.026 benign 0.01 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) ExAC,TOPMed,gnomAD rs755342240 6p21.1 6 43501683C> T null R C 96 96 missense 0.443 benign 0.06 tolerated 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed,gnomAD rs1382952411 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6p21.1 6 43501684G> A null R H 96 96 missense 0.286 benign 0.02 deleterious 1 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) gnomAD rs1419145441 6p21.1 6 43501687G> C null R T 97 97 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B6G8 TJAP1 Tight junction-associated protein 1 (Fragment) TOPMed,gnomAD rs1324593832 6p21.1 6 43502289G> C null Q H 99 99 missense 0.444 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1392450462 20q13.11 20 43189727T> C null S G 3 3 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1465107933 20q13.11 20 43189715G> A null L F 7 7 missense 0.765 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1418862341 20q13.11 20 43189714A> G null L P 7 7 missense 0.883 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1476081659 20q13.11 20 43189706T> C null S G 10 10 missense 0.013 benign 0.4 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1366463435 20q13.11 20 43189697G> T null L M 13 13 missense 0.07 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1196215383 20q13.11 20 43189688G> A null Q * 16 16 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1215136221 20q13.11 20 43189672G> T null P H 21 21 missense 0.95 probably damaging 0.2 tolerated - low confidence 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1273452161 20q13.11 20 43189673G> A null P S 21 21 missense 0.803 possibly damaging 0.39 tolerated - low confidence 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1283951530 20q13.11 20 43189669C> T null G D 22 22 missense 0.969 probably damaging 0.33 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1338054687 20q13.11 20 43189667C> A null A S 23 23 missense 0.709 possibly damaging 0.38 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1338054687 20q13.11 20 43189667C> T null A T 23 23 missense 0.695 possibly damaging 0.25 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1307632953 20q13.11 20 43189666G> A null A V 23 23 missense 0.682 possibly damaging 0.23 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1328218770 20q13.11 20 43189663C> A null R L 24 24 missense 0.433 benign 0.27 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1395255478 20q13.11 20 43189664G> A null R W 24 24 missense 0.835 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1162432534 20q13.11 20 43189660G> T null A D 25 25 missense 0.022 benign 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1388377310 20q13.11 20 43189661C> A null A S 25 25 missense 0.007 benign 0.52 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1388377310 20q13.11 20 43189661C> T null A T 25 25 missense 0.022 benign 0.68 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1176652509 20q13.11 20 43189656C> A null Q H 26 26 missense 0.387 benign 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1365480506 20q13.11 20 43189657T> C null Q R 26 26 missense 0.145 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs931067440 20q13.11 20 43189655T> C null S G 27 27 missense 0.0 benign 0.43 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1253049408 20q13.11 20 43189654C> A null S I 27 27 missense 0.045 benign 0.42 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1253049408 20q13.11 20 43189654C> T null S N 27 27 missense 0.007 benign 0.33 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs915651552 20q13.11 20 43189653G> C null S R 27 27 missense 0.05 benign 0.36 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1449501378 20q13.11 20 43189652C> A null A S 28 28 missense 0.036 benign 0.41 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1449501378 20q13.11 20 43189652C> T null A T 28 28 missense 0.015 benign 0.4 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs2867655 pubmed:15489334,pubmed:9179496,pubmed:9602027 20q13.11 20 43189649C> G null A P 29 29 0.2889 missense 0.5 possibly damaging 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1206105572 20q13.11 20 43189648G> A null A V 29 29 missense 0.023 benign 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1284539970 20q13.11 20 43189646C> A null G C 30 30 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1284539970 20q13.11 20 43189646C> G null G R 30 30 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1193404845 20q12 20 42885923G> C null S C 33 33 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1260262883 20q12 20 42885914T> C null E G 36 36 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200648521 20q12 20 42885912G> C null H D 37 37 2.0E-4 missense 0.051 benign 0.94 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs945531023 20q12 20 42885906T> C null S G 39 39 missense 0.038 benign 0.33 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs990175600 20q12 20 42885890C> G null S T 44 44 missense 0.692 possibly damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs747164346 20q12 20 42885888C> A null V L 45 45 missense 0.215 benign 0.22 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1166281033 20q12 20 42885881A> G null L P 47 47 missense 0.994 probably damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs185090623 20q12 20 42885872T> C null N S 50 50 2.0E-4 missense 0.007 benign 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1304553678 20q12 20 42885870C> G null G R 51 51 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs879079672 20q12 20 42885854T> C null Q R 56 56 missense 0.881 possibly damaging 0.32 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1358124647 20q12 20 42885841C> G null W C 60 60 missense 0.993 probably damaging 0.17 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs954347749 20q12 20 42885843A> G null W R 60 60 missense 0.991 probably damaging 0.43 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1030044339 20q12 20 42885840C> T null E K 61 61 missense 0.255 benign 0.33 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1030044339 20q12 20 42885840C> G null E Q 61 61 missense 0.503 possibly damaging 0.24 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs766924754 20q12 20 42885836T> C null K R 62 62 missense 0.003 benign 0.44 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs904039899 20q12 20 42885834G> C null P A 63 63 missense 0.035 benign 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs962225084 20q12 20 42885830A> G null M T 64 64 missense 0.0 benign 0.51 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,TOPMed rs372651512 20q12 20 42885831T> C null M V 64 64 missense 0.001 benign 0.53 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs750467022 20q12 20 42885818G> T null A E 68 68 missense 0.079 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs758419531 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42885819C> T null A T 68 68 missense 0.053 benign 0.75 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,dbSNP,gnomAD rs762135776 20q12 20 42885815A> G null V A 69 69 missense 0.063 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs867751511 20q12 20 42885812_42885813delinsA A null P F 70 70 missense 0.74 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs17811401 20q12 20 42791455T> C null M V 76 76 0.01078 missense 0.339 benign 0.18 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs987471635 20q12 20 42791449T> C null N D 78 78 missense 0.813 possibly damaging 0.26 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs536581391 20q12 20 42791446T> A null S C 79 79 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1441265694 20q12 20 42791445C> A null S I 79 79 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1369293369 20q12 20 42791443A> G null S P 80 80 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1291373475 20q12 20 42791437T> C null R G 82 82 missense 0.808 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1457746024 20q12 20 42791434C> T null A T 83 83 missense 0.961 probably damaging 0.43 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs144120350 20q12 20 42791430G> A null S F 84 84 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs760479842 20q12 20 42791419C> T null A T 88 88 missense 0.937 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374581538 20q12 20 42791416G> A null H Y 89 89 2.0E-4 missense 0.919 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs547588566 20q12 20 42791413G> A null L F 90 90 2.0E-4 missense 0.983 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs547588566 20q12 20 42791413G> T null L I 90 90 2.0E-4 missense 0.959 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1182812370 20q12 20 42791404G> A null P S 93 93 missense 0.976 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1315381374 20q12 20 42791378G> C null H Q 101 101 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs200831045 20q12 20 42791374T> A null I F 103 103 missense 0.923 probably damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs200831045 20q12 20 42791374T> G null I L 103 103 missense 0.564 possibly damaging 0.43 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs200831045 20q12 20 42791374T> C null I V 103 103 missense 0.321 benign 0.69 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs747441775 20q12 20 42791369G> C null D E 104 104 missense 0.908 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs773011187 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42791371C> T null D N 104 104 missense 0.981 probably damaging 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs773011187 20q12 20 42791371C> A null D Y 104 104 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1298789381 20q12 20 42791364T> C null H R 106 106 missense 0.871 possibly damaging 0.24 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs747409063 20q12 20 42791355A> G null F S 109 109 missense 0.083 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs772303757 20q12 20 42791353A> G null S P 110 110 missense 0.904 possibly damaging 0.17 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs772303757 20q12 20 42791353A> T null S T 110 110 missense 0.566 possibly damaging 0.44 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs376239850 20q12 20 42791347G> A null R C 112 112 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372989163 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42791346C> T null R H 112 112 5.99E-4 missense 0.966 probably damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs377238572 20q12 20 42791343T> C null D G 113 113 missense 0.968 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs370787491 20q12 20 42791344C> T null D N 113 113 missense 0.968 probably damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs777997871 20q12 20 42791326C> T null A T 119 119 missense 0.066 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369230837 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42791317C> T null V I 122 122 missense 0.452 possibly damaging 0.32 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1262417494 20q12 20 42791308T> C null K E 125 125 missense 0.91 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1200930497 20q12 20 42791302T> C null N D 127 127 missense 0.813 possibly damaging 0.13 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1232162514 20q12 20 42791295C> T null G D 129 129 missense 0.995 probably damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs724159833 20q12 20 42791296C> T null G S 129 129 missense 0.99 probably damaging 0.16 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs766169026 20q12 20 42791293G> C null P A 130 130 missense 0.818 possibly damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs766169026 20q12 20 42791293G> A null P S 130 130 missense 0.949 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs766169026 20q12 20 42791293G> T null P T 130 130 missense 0.949 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs767406393 20q12 20 42791284T> G null N H 133 133 missense 0.975 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs888187284 20q12 20 42791280G> T null P H 134 134 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs761607732 20q12 20 42791263C> T null G R 140 140 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs772557274 20q12 20 42791260C> T null V I 141 141 missense 0.0 benign 0.43 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs577588058 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42791257C> T null V I 142 142 missense 0.749 possibly damaging 0.43 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs774938394 20q12 20 42791250T> C null E G 144 144 missense 0.946 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs771381528 20q12 20 42791248C> T null G S 145 145 missense 0.994 probably damaging 0.76 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1328589785 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42791242C> T null V M 147 147 missense 0.976 probably damaging 0.22 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1569159161 20q12 20 42791227C> T null A T 152 152 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1425481575 20q12 20 42791217G> A null T I 155 155 missense 0.998 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1199398101 20q12 20 42791205T> C null H R 159 159 missense 0.884 possibly damaging 0.14 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1251752093 20q12 20 42791202A> G null F S 160 160 missense 0.958 probably damaging 0.56 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl,NCI-TCGA rs267605939 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 20q12 20 42791197G> A null Q * 162 162 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs780043579 20q12 20 42780294T> C null I M 164 164 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs747222234 20q12 20 42780296T> C null I V 164 164 missense 0.709 possibly damaging 0.55 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs758255021 20q12 20 42780288T> A null E D 166 166 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs778928297 20q12 20 42780284C> A null V F 168 168 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs778928297 20q12 20 42780284C> T null V I 168 168 missense 0.952 probably damaging 0.2 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs560587491 20q12 20 42780268T> A null H L 173 173 2.0E-4 missense 0.915 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs560587491 20q12 20 42780268T> C null H R 173 173 2.0E-4 missense 0.915 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1420220673 20q12 20 42780254C> G null A P 178 178 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1420220673 [NCI-TCGA]: Variant assessed as Somatic; impact. 20q12 20 42780254C> T null A T 178 178 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs547641233 20q12 20 42780251C> A null V L 179 179 2.0E-4 missense 0.972 probably damaging 0.77 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs547641233 20q12 20 42780251C> G null V L 179 179 2.0E-4 missense 0.972 probably damaging 0.77 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs547641233 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42780251C> T null V M 179 179 2.0E-4 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs868295248 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 20q12 20 42780245C> T null E K 181 181 missense 0.968 probably damaging 0.0 deleterious 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs761982578 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42780241A> G null V A 182 182 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs768757373 20q12 20 42780238C> T null R Q 183 183 missense 0.975 probably damaging 0.69 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs776612407 20q12 20 42780239G> A null R W 183 183 missense 0.995 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs780420080 20q12 20 42780235A> T null V D 184 184 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs747253114 20q12 20 42780236C> A null V F 184 184 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs527980358 20q12 20 42780226T> C null H R 187 187 2.0E-4 missense 0.915 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1159755583 20q12 20 42771550C> A null R I 190 190 missense 0.988 probably damaging 0.39 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1479029879 20q12 20 42771527G> C null L V 198 198 missense 0.979 probably damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs749246233 20q12 20 42771518C> T null V M 201 201 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1473410950 20q12 20 42771511A> G null V A 203 203 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs777695923 20q12 20 42771506C> T null V M 205 205 missense 0.994 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1208129305 20q12 20 42771502C> G null G A 206 206 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs755588862 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42771498C> G null Q H 207 207 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1255267199 20q12 20 42771488A> G null F L 211 211 missense 0.974 probably damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1319796126 20q12 20 42771479T> A null I F 214 214 missense 0.964 probably damaging 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1213702583 20q12 20 42771464A> G null W R 219 219 missense 0.994 probably damaging 0.53 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1379818853 20q12 20 42771460G> A null S F 220 220 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs754664536 20q12 20 42771454T> C null H R 222 222 missense 0.964 probably damaging 0.51 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1569146624 20q12 20 42771449T> C null K E 224 224 missense 0.979 probably damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs765578477 20q12 20 42771437G> A null Q * 228 228 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs757576860 20q12 20 42756632C> A null W L 230 230 missense 0.979 probably damaging 0.65 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1437849327 20q12 20 42756628A> T null N K 231 231 missense 0.986 probably damaging 0.14 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1191960390 20q12 20 42756621C> G null D H 234 234 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1293875597 20q12 20 42756617G> A null T M 235 235 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1248225126 20q12 20 42756615C> G null A P 236 236 missense 0.996 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1220248639 20q12 20 42756614G> A null A V 236 236 missense 0.987 probably damaging 0.17 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1286579934 20q12 20 42756609T> G null M L 238 238 missense 0.65 possibly damaging 0.74 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs377294483 20q12 20 42756599C> T null R H 241 241 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs369855681 20q12 20 42756588G> A null H Y 245 245 missense 0.946 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,gnomAD rs375454640 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42756581C> T null R H 247 247 missense 0.982 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1217566416 20q12 20 42756579A> T null F I 248 248 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs903818364 20q12 20 42756570T> C null T A 251 251 missense 0.979 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1471904170 20q12 20 42756562A> T null S R 253 253 missense 0.988 probably damaging 0.66 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1417977676 20q12 20 42756548G> C null A G 258 258 missense 0.003 benign 0.26 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1417977676 20q12 20 42756548G> A null A V 258 258 missense 0.007 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs761753488 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42756546G> T null Q K 259 259 missense 0.915 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs367872006 20q12 20 42756542C> A null R L 260 260 missense 0.965 probably damaging 0.13 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs367872006 20q12 20 42756542C> T null R Q 260 260 missense 0.944 probably damaging 0.39 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1423243089 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42756543G> A null R W 260 260 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC rs768222550 20q12 20 42756540T> G null S R 261 261 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201332786 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42756537C> T null V I 262 262 missense 0.0 benign 0.26 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs771722189 20q12 20 42756534T> C null S G 263 263 missense 0.961 probably damaging 0.68 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs778220140 20q12 20 42756532G> T null S R 263 263 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs753257334 20q12 20 42756525G> A null R C 266 266 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs776806194 cosmic curated [Cosmic]: liver cosmic_study:323 20q12 20 42756513G> A null R C 270 270 missense 0.997 probably damaging 0.05 tolerated 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs751630191 20q12 20 42756512C> T null R H 270 270 missense 0.992 probably damaging 0.25 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs751630191 20q12 20 42756512C> A null R L 270 270 missense 0.984 probably damaging 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs933850160 20q12 20 42756494C> G null G A 276 276 missense 0.994 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs760850059 20q12 20 42756471T> A null I F 284 284 missense 0.964 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs776607737 20q12 20 42756468C> T null V M 285 285 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1424048902 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42756462C> T null E K 287 287 missense 0.966 probably damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs200588327 20q12 20 42678150G> A null T M 290 290 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1339099628 20q12 20 42678135G> T null P Q 295 295 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs867832842 20q12 20 42678136G> A null P S 295 295 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs770680003 20q12 20 42678133C> G null E Q 296 296 missense 0.986 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1422559885 20q12 20 42678115C> A null A S 302 302 missense 0.985 probably damaging 0.37 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs369776794 20q12 20 42678107G> T null Y * 304 304 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1379415981 20q12 20 42678087G> T null A D 311 311 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1379415981 20q12 20 42678087G> C null A G 311 311 missense 0.977 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs747556867 20q12 20 42678074G> C null I M 315 315 missense 0.991 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs202129510 20q12 20 42678061T> C null I V 320 320 2.0E-4 missense 0.386 benign 0.17 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs376161100 20q12 20 42678055G> T null L M 322 322 missense 0.994 probably damaging 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs868376470 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42678049C> T null E K 324 324 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs724159835 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42678037G> A null R C 328 328 missense 0.995 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs724159835 20q12 20 42678037G> C null R G 328 328 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs754008236 20q12 20 42678036C> T null R H 328 328 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs988719945 20q12 20 42678027G> A null T I 331 331 missense 0.161 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl,NCI-TCGA rs724159834 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42678025C> A null G C 332 332 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs755794681 20q12 20 42678021G> A null T M 333 333 missense 0.429 benign 0.13 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1360709532 20q12 20 42678017C> T null W * 334 334 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs752743357 20q12 20 42678019A> C null W G 334 334 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs767338819 20q12 20 42678016C> A null A S 335 335 missense 0.208 benign 0.64 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs767338819 20q12 20 42678016C> T null A T 335 335 missense 0.12 benign 0.73 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1569077282 20q12 20 42678004T> A null I L 339 339 missense 0.811 possibly damaging 0.46 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139243249 cosmic curated [Cosmic]: oesophagus cosmic_study:582 20q12 20 42678003A> G null I T 339 339 2.0E-4 missense 0.964 probably damaging 0.28 tolerated 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs774033275 20q12 20 42678000A> G null V A 340 340 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs762711002 20q12 20 42677998C> A null D Y 341 341 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1238580448 20q12 20 42677994G> A null S F 342 342 missense 0.992 probably damaging 0.16 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs772935513 20q12 20 42677995A> G null S P 342 342 missense 0.954 probably damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs202093079 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42677987G> T null N K 344 344 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1419824411 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42677962C> T null D N 353 353 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs778985729 20q12 20 42677959C> T null V I 354 354 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1036157566 20q12 20 42677949T> G null E A 357 357 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs768373707 20q12 20 42677950C> T null E K 357 357 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,NCI-TCGA,gnomAD rs571224137 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42677943C> T null R Q 359 359 2.0E-4 missense 0.975 probably damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs767307358 20q12 20 42677918C> G null E D 367 367 missense 0.87 possibly damaging 0.2 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs767307358 20q12 20 42677918C> A null E D 367 367 missense 0.87 possibly damaging 0.2 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs887196694 20q12 20 42677916C> G null G A 368 368 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs887196694 20q12 20 42677916C> A null G V 368 368 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase NCI-TCGA,TOPMed,gnomAD rs760520624 [NCI-TCGA]: Variant assessed as Somatic; impact. 20q12 20 42677910G> A null T M 370 370 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs751487270 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42677904G> A null P L 372 372 missense 0.996 probably damaging 0.23 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs898991864 20q12 20 42677893G> C null P A 376 376 missense 0.991 probably damaging 0.23 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1400522019 20q12 20 42677872A> C null C G 383 383 missense 0.622 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1346523675 20q12 20 42677870A> C null C W 383 383 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368237025 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472559G> A null P L 386 386 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs761394539 20q12 20 42472556A> G null V A 387 387 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1568910629 20q12 20 42472557C> T null V I 387 387 missense 0.949 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs200107921 20q12 20 42472554G> T null H N 388 388 missense 0.946 probably damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs200107921 20q12 20 42472554G> A null H Y 388 388 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,TOPMed rs377414415 20q12 20 42472542T> C null N D 392 392 missense 0.066 benign 0.29 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41279258 20q12 20 42472540G> T null N K 392 392 0.006589 missense 0.117 benign 0.78 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1270848448 20q12 20 42472538A> G null V A 393 393 missense 0.066 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs770753852 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472539C> T null V M 393 393 missense 0.018 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs769857638 20q12 20 42472534T> A null E D 394 394 missense 0.87 possibly damaging 0.25 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs370385649 20q12 20 42472536C> T null E K 394 394 missense 0.966 probably damaging 0.9 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs879114332 20q12 20 42472529A> G null V A 396 396 missense 0.965 probably damaging 0.71 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs41279256 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472530C> T null V I 396 396 0.003195 missense 0.731 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs992685359 20q12 20 42472524T> A null I F 398 398 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs992685359 20q12 20 42472524T> G null I L 398 398 missense 0.811 possibly damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs866048434 20q12 20 42472520C> T null R K 399 399 missense 0.937 probably damaging 0.36 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200302453 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472514C> T null R Q 401 401 missense 0.944 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1328848371 20q12 20 42472515G> A null R W 401 401 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs758441329 20q12 20 42472503G> C null L V 405 405 missense 0.979 probably damaging 0.89 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs750336339 20q12 20 42472499T> A null Q L 406 406 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1413740559 20q12 20 42472492C> G null E D 408 408 missense 0.87 possibly damaging 0.14 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs769639671 20q12 20 42472494C> G null E Q 408 408 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs756719404 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472485C> T null G S 411 411 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs755381090 20q12 20 42472479C> T null A T 413 413 missense 0.0 benign 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs751886972 20q12 20 42472478G> A null A V 413 413 missense 0.0 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1321294629 20q12 20 42472476C> A null V L 414 414 missense 0.0 benign 0.24 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1293790183 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472470G> A null R C 416 416 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1243176969 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472469C> T null R H 416 416 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs763468780 20q12 20 42472463T> C null H R 418 418 missense 0.915 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs372883484 20q12 20 42472464G> A null H Y 418 418 missense 0.916 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1225101349 20q12 20 42472461T> A null S C 419 419 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1568910279 20q12 20 42472455T> C null N D 421 421 missense 0.948 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs773703805 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472454T> A null N I 421 421 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs773703805 20q12 20 42472454T> C null N S 421 421 missense 0.87 possibly damaging 0.23 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs773703805 20q12 20 42472454T> G null N T 421 421 missense 0.966 probably damaging 0.38 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs724159837 20q12 20 42472452G> A null L F 422 422 missense 0.996 probably damaging 0.13 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs776769442 20q12 20 42472446C> A null V L 424 424 missense 0.062 benign 0.92 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs776769442 cosmic curated [Cosmic]: central_nervous_system, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:328,cosmic_study:329 20q12 20 42472446C> T null V M 424 424 missense 0.763 possibly damaging 0.0 deleterious 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs901133160 20q12 20 42472442T> C null Q R 425 425 missense 0.022 benign 0.83 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs768968759 20q12 20 42472435C> G null Q H 427 427 missense 0.989 probably damaging 0.55 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs747194630 20q12 20 42472434A> G null Y H 428 428 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs775446676 20q12 20 42472427A> G null F S 430 430 missense 0.981 probably damaging 0.38 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1417559177 20q12 20 42472416G> C null Q E 434 434 missense 0.005 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192944843 20q12 20 42472410C> T null E K 436 436 3.99E-4 missense 0.98 probably damaging 0.26 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1480616778 20q12 20 42472407C> T null A T 437 437 missense 0.991 probably damaging 0.32 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs778904835 20q12 20 42472406G> A null A V 437 437 missense 0.987 probably damaging 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs143164081 20q12 20 42472404C> T null E K 438 438 2.0E-4 missense 0.968 probably damaging 0.8 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1286105159 20q12 20 42472403T> A null E V 438 438 missense 0.975 probably damaging 0.72 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs755791453 20q12 20 42472397A> G null V A 440 440 missense 0.018 benign 0.2 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs755791453 20q12 20 42472397A> C null V G 440 440 missense 0.11 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1314780567 20q12 20 42472398C> T null V I 440 440 missense 0.0 benign 0.13 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs752292276 20q12 20 42472393G> C null I M 441 441 missense 0.984 probably damaging 0.22 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375946335 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472367C> T null R Q 450 450 missense 0.975 probably damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs764219594 20q12 20 42472364C> G null G A 451 451 missense 0.996 probably damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs764219594 20q12 20 42472364C> T null G D 451 451 missense 0.998 probably damaging 0.46 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs776803561 20q12 20 42472365C> G null G R 451 451 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase dbSNP,gnomAD rs1371429276 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: a gastric cancer pubmed:15155950 cosmic_study:329 20q12 20 42472359G> A null R C 453 453 missense 0.995 probably damaging 0.04 deleterious 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs772057709 20q12 20 42472358C> T null R H 453 453 missense 0.993 probably damaging 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs772057709 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472358C> A null R L 453 453 missense 0.986 probably damaging 0.63 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs772057709 20q12 20 42472358C> G null R P 453 453 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs372641383 20q12 20 42472350T> C null M V 456 456 missense 0.65 possibly damaging 0.23 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1443390760 20q12 20 42472346G> A null T I 457 457 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs188436636 20q12 20 42472341G> C null R G 459 459 7.99E-4 missense 0.251 benign 0.24 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs868706902 20q12 20 42472340C> A null R L 459 459 missense 0.197 benign 0.3 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs868706902 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472340C> T null R Q 459 459 missense 0.003 benign 0.27 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs188436636 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472341G> A null R W 459 459 7.99E-4 missense 0.736 possibly damaging 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1259827929 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472334C> T null R Q 461 461 missense 0.975 probably damaging 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs780812254 20q12 20 42472327C> G null L F 463 463 missense 0.019 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs780812254 20q12 20 42472327C> A null L F 463 463 missense 0.019 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs747865278 20q12 20 42472328A> G null L S 463 463 missense 0.003 benign 0.31 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1463467204 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472314C> T null E K 468 468 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs372070542 20q12 20 42472307C> T null R Q 470 470 missense 0.015 benign 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1319238979 20q12 20 42472304A> G null M T 471 471 missense 0.031 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1568909948 20q12 20 42472302C> T null E K 472 472 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs895738364 20q12 20 42472298C> G null S T 473 473 missense 0.928 probably damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1303701349 20q12 20 42472295T> C null E G 474 474 missense 0.986 probably damaging 0.25 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs757806313 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472296C> T null E K 474 474 missense 0.98 probably damaging 0.71 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1016613135 20q12 20 42472278T> G null T P 480 480 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs866253502 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42472272C> T null E K 482 482 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes rs560503250 20q12 20 42472266C> T null V I 484 484 2.0E-4 missense 0.965 probably damaging 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1194371212 20q12 20 42448318C> G null V L 488 488 missense 0.015 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs724159838 20q12 20 42448315G> A null P S 489 489 missense 0.995 probably damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC rs752791308 20q12 20 42448312G> C null L V 490 490 missense 0.984 probably damaging 0.32 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs767453141 20q12 20 42448305G> A null S F 492 492 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1293077894 20q12 20 42448303T> C null I V 493 493 missense 0.772 possibly damaging 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1031395862 20q12 20 42448296C> T null G E 495 495 missense 1.0 probably damaging 0.21 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs554343349 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42448293C> T null G E 496 496 3.99E-4 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs759824186 20q12 20 42448294C> T null G R 496 496 missense 0.999 probably damaging 0.13 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs554343349 20q12 20 42448293C> A null G V 496 496 3.99E-4 missense 0.999 probably damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1393546717 20q12 20 42448291G> C null P A 497 497 missense 0.994 probably damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs756801035 20q12 20 42448287A> G null F S 498 498 missense 0.985 probably damaging 0.2 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1309434378 20q12 20 42448285C> G null E Q 499 499 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1308892691 20q12 20 42448279T> C null K E 501 501 missense 0.965 probably damaging 0.21 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs776143904 20q12 20 42448268G> C null I M 504 504 missense 0.241 benign 0.13 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs767995055 20q12 20 42448266T> C null Q R 505 505 missense 0.938 probably damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1362361959 20q12 20 42448261T> C null K E 507 507 missense 0.984 probably damaging 0.95 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1308825762 20q12 20 42448257G> A null P L 508 508 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs779566022 20q12 20 42448258G> A null P S 508 508 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs779566022 20q12 20 42448258G> T null P T 508 508 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1162609724 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42448254G> A null P L 509 509 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,dbSNP,gnomAD rs749647294 [UniProt]: a colorectal cancer pubmed:15155950 20q12 20 42448250A> T null N K 510 510 missense 0.986 probably damaging 0.94 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs200887575 20q12 20 42448251T> C null N S 510 510 missense 0.979 probably damaging 0.86 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs778460141 20q12 20 42448247C> G null E D 511 511 missense 0.979 probably damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs748614887 20q12 20 42448243T> C null N D 513 513 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1202202722 20q12 20 42448242T> C null N S 513 513 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs767966403 20q12 20 42448237C> A null V F 515 515 missense 0.043 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs767966403 20q12 20 42448237C> T null V I 515 515 missense 0.0 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs760100248 20q12 20 42448234T> C null I V 516 516 missense 0.581 possibly damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs751972373 20q12 20 42448230G> T null T K 517 517 missense 0.978 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs751972373 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42448230G> A null T M 517 517 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs751972373 20q12 20 42448230G> C null T R 517 517 missense 0.997 probably damaging 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs750249800 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42448222C> T null E K 520 520 missense 0.645 possibly damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs57438478 20q12 20 42352280G> T null N K 522 522 missense 0.0 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs757040363 20q12 20 42352276T> C null K E 524 524 missense 0.033 benign 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs753868829 20q12 20 42352275T> C null K R 524 524 missense 0.05 benign 0.22 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs760271858 20q12 20 42352272G> C null A G 525 525 missense 0.146 benign 0.33 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs763915400 20q12 20 42352273C> T null A T 525 525 missense 0.116 benign 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1053460329 20q12 20 42352270C> A null V F 526 526 missense 0.27 benign 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs926083986 20q12 20 42352267C> T null G S 527 527 missense 0.225 benign 0.98 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs906977293 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42352263G> A null S L 528 528 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs759272701 20q12 20 42352250A> C null S R 532 532 missense 0.092 benign 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs759272701 20q12 20 42352250A> T null S R 532 532 missense 0.092 benign 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1476482006 20q12 20 42352249C> T null A T 533 533 missense 0.214 benign 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs369764829 20q12 20 42352246C> T null D N 534 534 missense 0.092 benign 0.74 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs192708116 20q12 20 42352239G> A null S L 536 536 9.98E-4 missense 0.0 benign 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs192708116 20q12 20 42352239G> C null S W 536 536 9.98E-4 missense 0.784 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372526838 20q12 20 42352233T> A null Q L 538 538 2.0E-4 missense 0.044 benign 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs780013814 20q12 20 42352230C> T null R K 539 539 missense 0.954 probably damaging 0.18 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs780013814 20q12 20 42352230C> G null R T 539 539 missense 0.981 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC rs746154941 20q12 20 42352225T> C null K E 541 541 missense 0.257 benign 0.59 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs757093346 20q12 20 42352223T> A null K N 541 541 missense 0.438 benign 0.28 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs779092071 20q12 20 42352224T> G null K T 541 541 missense 0.115 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs199901278 20q12 20 42352221A> G null V A 542 542 2.0E-4 missense 0.197 benign 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1268037992 20q12 20 42352222C> T null V M 542 542 missense 0.451 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs200124174 20q12 20 42352216T> C null K E 544 544 missense 0.984 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,NCI-TCGA,TOPMed rs375343257 [NCI-TCGA]: Variant assessed as Somatic; impact. 20q12 20 42352215T> C null K R 544 544 missense 0.983 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1338174649 20q12 20 42352213G> T null L I 545 545 missense 0.092 benign 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs752620539 20q12 20 42352210G> C null R G 546 546 missense 0.99 probably damaging 0.25 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs548511212 20q12 20 42352209C> T null R Q 546 546 2.0E-4 missense 0.982 probably damaging 0.35 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs752620539 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42352210G> A null R W 546 546 missense 0.996 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs751307703 20q12 20 42352198G> A null H Y 550 550 missense 0.744 possibly damaging 0.82 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl,NCI-TCGA rs724159839 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42352195G> A null H Y 551 551 missense 0.824 possibly damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1465279954 20q12 20 42352192G> A null L F 552 552 missense 0.937 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1182688044 20q12 20 42352188A> G null F S 553 553 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs761093954 20q12 20 42352176T> A null Y F 557 557 missense 0.656 possibly damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs769006735 20q12 20 42352177A> G null Y H 557 557 missense 0.941 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1568801750 20q12 20 42352165T> C null T A 561 561 missense 0.7 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs552058956 20q12 20 42352152G> T null T N 565 565 5.99E-4 missense 0.94 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs772196996 20q12 20 42352148G> C null I M 566 566 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1270678016 20q12 20 42352140C> T null S N 569 569 missense 0.029 benign 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1033486919 20q12 20 42352135C> T null A T 571 571 missense 0.0 benign 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1316464006 20q12 20 42352131T> A null K M 572 572 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1316464006 20q12 20 42352131T> G null K T 572 572 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1377898447 20q12 20 42352125A> C null F C 574 574 missense 0.589 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs866997637 20q12 20 42352119_42352120delinsA A null P F 576 576 missense 0.556 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs771173099 20q12 20 42352120G> T null P T 576 576 missense 0.062 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,gnomAD rs368779853 20q12 20 42352107G> A null T I 580 580 missense 0.244 benign 0.37 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1307841673 20q12 20 42352105G> C null R G 581 581 missense 0.897 possibly damaging 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs199751250 20q12 20 42352104C> T null R Q 581 581 2.0E-4 missense 0.89 possibly damaging 0.74 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs867189940 20q12 20 42352098G> A null A V 583 583 missense 0.132 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,gnomAD rs374504796 20q12 20 42352089A> G null I T 586 586 missense 0.171 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs770982036 20q12 20 42350725A> T null S T 590 590 missense 0.822 possibly damaging 0.69 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP rs373462132 20q12 20 42350721A> G null M T 591 591 missense 0.054 benign 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs201657236 20q12 20 42350719G> A null P S 592 592 missense 0.107 benign 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs747923769 20q12 20 42350710C> T null D N 595 595 missense 0.97 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs781098660 20q12 20 42350700G> A null T I 598 598 missense 0.049 benign 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs781098660 20q12 20 42350700G> T null T N 598 598 missense 0.033 benign 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase dbSNP,gnomAD rs1217327426 NCI-TCGA Cosmic [UniProt]: a colorectal cancer, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:15155950 20q12 20 42350679G> A null T M 605 605 missense 0.742 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs779716517 20q12 20 42350677T> C null T A 606 606 missense 0.073 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1224721832 20q12 20 42350670G> A null T I 608 608 missense 0.424 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1326069279 20q12 20 42350668C> T null V M 609 609 missense 0.468 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1386381982 20q12 20 42350663C> T null M I 610 610 missense 0.007 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1362941277 20q12 20 42350658T> C null K R 612 612 missense 0.131 benign 0.66 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs750102292 20q12 20 42350653C> T null A T 614 614 missense 0.213 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1568800070 20q12 20 42350648C> A null Q H 615 615 missense 0.26 benign 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,gnomAD rs146000056 20q12 20 42350643C> T null R Q 617 617 2.0E-4 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs764919361 20q12 20 42350644G> A null R W 617 617 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1306991196 20q12 20 42350637G> A null A V 619 619 missense 0.003 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs867428378 20q12 20 42350635G> A null P S 620 620 missense 0.079 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1431106649 20q12 20 42350631A> G null V A 621 621 missense 0.062 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs756474128 20q12 20 42350632C> T null V I 621 621 missense 0.033 benign 0.99 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1446905056 20q12 20 42315994A> G null V A 623 623 missense 0.977 probably damaging 0.64 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs755328200 20q12 20 42315977T> C null K E 629 629 missense 0.984 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs724159841 20q12 20 42315974C> T null E K 630 630 missense 0.984 probably damaging 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs752116362 20q12 20 42315968G> A null R * 632 632 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs766880457 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42315967C> T null R Q 632 632 missense 0.077 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1203236282 20q12 20 42315965G> C null L V 633 633 missense 0.083 benign 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs997415297 20q12 20 42315955G> A null S L 636 636 missense 0.045 benign 0.58 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs371723954 20q12 20 42315952C> T null R Q 637 637 missense 0.982 probably damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1054630078 20q12 20 42315947C> T null A T 639 639 missense 0.994 probably damaging 0.5 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs531404437 20q12 20 42315944C> A null A S 640 640 missense 0.99 probably damaging 0.37 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs900462377 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42315941C> T null D N 641 641 missense 0.994 probably damaging 0.39 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs182839541 20q12 20 42315938T> A null I F 642 642 2.0E-4 missense 0.974 probably damaging 0.71 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs182839541 20q12 20 42315938T> C null I V 642 642 2.0E-4 missense 0.856 possibly damaging 0.63 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs768631566 20q12 20 42315934A> G null I T 643 643 missense 0.006 benign 0.53 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs760526085 20q12 20 42315932C> T null E K 644 644 missense 0.984 probably damaging 0.31 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs775327567 20q12 20 42315928C> A null C F 645 645 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs868189942 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42315922G> A null S L 647 647 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1187423082 20q12 20 42315913A> C null V G 650 650 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs775796300 cosmic curated [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:328 20q12 20 42315914C> T null V M 650 650 missense 0.996 probably damaging 0.18 tolerated 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs724159842 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42315904C> T null R Q 653 653 missense 0.048 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs200852571 20q12 20 42315905G> A null R W 653 653 2.0E-4 missense 0.755 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1180488949 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42315901T> C null N S 654 654 missense 0.984 probably damaging 0.23 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs751987765 20q12 20 42315898G> C null A G 655 655 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs146825584 20q12 20 42315895G> A null S F 656 656 missense 0.994 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs765424560 20q12 20 42315886T> C null D G 659 659 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371433526 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42315887C> T null D N 659 659 missense 0.994 probably damaging 0.58 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs371433526 20q12 20 42315887C> A null D Y 659 659 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1481801840 20q12 20 42315884A> G null S P 660 660 missense 0.986 probably damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1243920195 20q12 20 42315877T> C null H R 662 662 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs761971670 20q12 20 42315875A> G null Y H 663 663 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs754163168 20q12 20 42315859A> C null L W 668 668 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs764382813 20q12 20 42315856T> C null K R 669 669 missense 0.984 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1431956655 20q12 20 42315850G> T null A D 671 671 missense 0.021 benign 0.16 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs760938710 20q12 20 42315851C> T null A T 671 671 missense 0.0 benign 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1303359688 20q12 20 42315846G> T null N K 672 672 missense 0.99 probably damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs775376239 20q12 20 42315833G> T null Q K 677 677 missense 0.937 probably damaging 0.5 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1157674057 20q12 20 42315832T> C null Q R 677 677 missense 0.961 probably damaging 0.44 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1301750197 20q12 20 42315823G> A null T I 680 680 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1472460261 20q12 20 42315817C> A null G V 682 682 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs111367672 20q12 20 42315811T> C null N S 684 684 missense 0.984 probably damaging 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs926421412 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 20q12 20 42315799T> C null N S 688 688 missense 0.984 probably damaging 0.31 tolerated 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs759518214 20q12 20 42315792G> T null Y * 690 690 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs770482461 20q12 20 42315779G> C null L V 695 695 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs867675509 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42315773G> A null P S 697 697 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs777227473 20q12 20 42315770G> T null L M 698 698 missense 0.996 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs777227473 20q12 20 42315770G> C null L V 698 698 missense 0.984 probably damaging 0.29 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs747700602 20q12 20 42315763C> A null S I 700 700 missense 0.992 probably damaging 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs780476265 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42315761A> G null Y H 701 701 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1328191574 20q12 20 42315757C> T null S N 702 702 missense 0.971 probably damaging 0.64 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs750997059 20q12 20 42315740G> T null L I 708 708 missense 0.984 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs920443041 20q12 20 42315734T> C null K E 710 710 missense 0.984 probably damaging 0.44 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1044287314 20q12 20 42315732T> G null K N 710 710 missense 0.993 probably damaging 0.68 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1329010453 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42315731C> T null A T 711 711 missense 0.994 probably damaging 0.39 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs779542186 20q12 20 42315728T> C null N D 712 712 missense 0.984 probably damaging 0.19 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs757455181 20q12 20 42315727T> A null N I 712 712 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs757455181 20q12 20 42315727T> C null N S 712 712 missense 0.984 probably damaging 0.14 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1407484241 20q12 20 42282524T> C null E G 714 714 missense 0.404 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1336479101 20q12 20 42282516T> C null I V 717 717 missense 0.031 benign 0.19 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs776134993 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 20q12 20 42282504G> A null R C 721 721 missense 0.614 possibly damaging 0.0 deleterious 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs370795038 20q12 20 42282503C> T null R H 721 721 missense 0.636 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1476533276 20q12 20 42282494G> T null T K 724 724 missense 0.202 benign 0.48 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1236629233 20q12 20 42270453G> T null A E 726 726 missense 0.206 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs774983998 20q12 20 42282489C> G null A P 726 726 missense 0.469 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs774983998 20q12 20 42282489C> T null A T 726 726 missense 0.06 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1044332813 20q12 20 42270450G> A null P L 727 727 missense 0.015 benign 0.18 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1204066513 20q12 20 42270446C> T null M I 728 728 missense 0.0 benign 0.78 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs534320934 20q12 20 42270448T> C null M V 728 728 2.0E-4 missense 0.0 benign 0.53 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1359501262 20q12 20 42270444C> T null G D 729 729 missense 0.133 benign 0.6 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1359501262 20q12 20 42270444C> A null G V 729 729 missense 0.333 benign 0.32 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1356278268 20q12 20 42270438G> C null A G 731 731 missense 0.035 benign 0.33 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs951719751 20q12 20 42270439C> G null A P 731 731 missense 0.0 benign 0.43 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs951719751 20q12 20 42270439C> T null A T 731 731 missense 0.037 benign 0.72 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs920322224 20q12 20 42270435T> A null Q L 732 732 missense 0.465 possibly damaging 0.19 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1200336623 20q12 20 42270430T> G null T P 734 734 missense 0.923 probably damaging 0.3 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199994862 20q12 20 42270426G> A null P L 735 735 2.0E-4 missense 0.04 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1405822046 20q12 20 42270423C> T null G E 736 736 missense 0.037 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1014252164 20q12 20 42270424C> A null G W 736 736 missense 0.417 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs538256878 20q12 20 42270421T> G null T P 737 737 0.002196 missense 0.07 benign 0.33 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1411565153 20q12 20 42270418G> C null P A 738 738 missense 0.932 probably damaging 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs960913347 20q12 20 42270409G> A null L F 741 741 missense 0.943 probably damaging 0.45 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1301137946 20q12 20 42270408A> T null L H 741 741 missense 0.987 probably damaging 0.41 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs960913347 20q12 20 42270409G> C null L V 741 741 missense 0.87 possibly damaging 0.53 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,TOPMed rs373459864 20q12 20 42248822C> T null G D 745 745 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1162796558 20q12 20 42270397C> T null G S 745 745 missense 0.998 probably damaging 0.14 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs755171131 20q12 20 42248820C> T null A T 746 746 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs201441123 20q12 20 42248809C> A null Q H 749 749 missense 0.992 probably damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs751715289 20q12 20 42248810T> C null Q R 749 749 missense 0.961 probably damaging 0.42 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs758176792 20q12 20 42248796C> G null V L 754 754 missense 0.963 probably damaging 0.58 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1218906688 20q12 20 42248791C> A null E D 755 755 missense 0.984 probably damaging 0.26 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs765058435 20q12 20 42248792T> A null E V 755 755 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs201346966 20q12 20 42248766C> T null V M 764 764 missense 0.996 probably damaging 0.28 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1437121147 20q12 20 42248761C> G null K N 765 765 missense 0.993 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1175773117 20q12 20 42248760T> C null M V 766 766 missense 0.721 possibly damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1568707884 20q12 20 42248750A> C null V G 769 769 missense 0.989 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372713520 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42248751C> T null V M 769 769 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs775272997 20q12 20 42248748T> C null I V 770 770 missense 0.856 possibly damaging 0.36 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs763387029 20q12 20 42248739G> A null L F 773 773 missense 0.996 probably damaging 0.2 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1390203053 20q12 20 42248731C> T null M I 775 775 missense 0.813 possibly damaging 0.32 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs770233299 20q12 20 42248732A> G null M T 775 775 missense 0.914 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs370061295 20q12 20 42248733T> C null M V 775 775 missense 0.721 possibly damaging 0.8 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1189955592 20q12 20 42248727T> C null I V 777 777 missense 0.0 benign 0.72 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1448127289 20q12 20 42248724T> C null I V 778 778 missense 0.856 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143630572 20q12 20 42248718G> C null L V 780 780 0.002396 missense 0.984 probably damaging 0.21 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1365364493 20q12 20 42248712C> G null G R 782 782 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs747289224 20q12 20 42248709C> G null V L 783 783 missense 0.003 benign 0.18 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs747289224 20q12 20 42248709C> T null V M 783 783 missense 0.052 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1313697654 20q12 20 42248703G> A null L F 785 785 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs758233973 20q12 20 42248697T> C null I V 787 787 missense 0.856 possibly damaging 0.51 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs750253646 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42248690C> T null R K 789 789 missense 0.937 probably damaging 0.65 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1384718881 20q12 20 42236252A> C null N K 792 792 missense 0.922 probably damaging 0.91 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs778575318 20q12 20 42236250G> T null A D 793 793 missense 0.972 probably damaging 0.2 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs778575318 20q12 20 42236250G> A null A V 793 793 missense 0.943 probably damaging 0.5 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs951863604 20q12 20 42236244G> A null S F 795 795 missense 0.943 probably damaging 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs757067911 20q12 20 42236241T> G null Y S 796 796 missense 0.922 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs749238058 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42236238G> A null S F 797 797 missense 0.943 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs748447333 20q12 20 42236235T> C null Y C 798 798 missense 0.982 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs777743231 20q12 20 42236236A> C null Y D 798 798 missense 0.943 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,TOPMed,gnomAD rs368968288 20q12 20 42199381C> T null A T 803 803 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1465304165 20q12 20 42199380G> A null A V 803 803 missense 0.99 probably damaging 0.41 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1269717084 20q12 20 42199377T> C null K R 804 804 missense 0.984 probably damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1349766369 20q12 20 42199371T> C null Q R 806 806 missense 0.961 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs956918121 20q12 20 42199362G> T null T N 809 809 missense 0.993 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs200127403 20q12 20 42199358C> G null Q H 810 810 missense 0.992 probably damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1306080663 20q12 20 42199357T> C null S G 811 811 missense 0.073 benign 0.28 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1328809133 20q12 20 42199353C> T null G E 812 812 missense 0.005 benign 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs754524565 20q12 20 42199347T> C null Q R 814 814 missense 0.961 probably damaging 0.71 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1174893851 20q12 20 42199344C> T null R K 815 815 missense 0.954 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1403411484 20q12 20 42199337C> T null M I 817 817 missense 0.813 possibly damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs372551000 20q12 20 42199338A> G null M T 817 817 missense 0.914 probably damaging 0.41 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1319214503 20q12 20 42199339T> C null M V 817 817 missense 0.721 possibly damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1174498679 20q12 20 42199335C> A null G V 818 818 missense 0.999 probably damaging 0.58 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1464757658 20q12 20 42199330C> T null V M 820 820 missense 0.039 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1377089777 20q12 20 42199327C> G null A P 821 821 missense 0.997 probably damaging 0.24 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs766023538 20q12 20 42199323G> A null S F 822 822 missense 0.012 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1189303651 20q12 20 42199324A> G null S P 822 822 missense 0.015 benign 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs766023538 20q12 20 42199323G> T null S Y 822 822 missense 0.049 benign 0.22 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs757952832 20q12 20 42199321C> T null A T 823 823 missense 0.001 benign 0.47 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs370526586 20q12 20 42199316G> T null D E 824 824 missense 0.003 benign 0.14 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200990749 20q12 20 42199318C> T null D N 824 824 2.0E-4 missense 0.2 benign 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200990749 20q12 20 42199318C> A null D Y 824 824 2.0E-4 missense 0.866 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1203514059 20q12 20 42199314T> C null K R 825 825 missense 0.984 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs543801617 20q12 20 42199308G> A null T I 827 827 2.0E-4 missense 0.03 benign 0.39 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1342451722 20q12 20 42199305G> A null T I 828 828 missense 0.333 benign 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1443566457 20q12 20 42199300G> C null L V 830 830 missense 0.979 probably damaging 0.47 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs145661499 20q12 20 42199295G> C null S R 831 831 2.0E-4 missense 0.555 possibly damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61749502 20q12 20 42199294C> T null A T 832 832 0.02596 missense 0.007 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs773152433 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:435 20q12 20 42199288G> A null R C 834 834 missense 0.481 possibly damaging 0.05 deleterious 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs536150112 20q12 20 42199287C> T null R H 834 834 missense 0.0 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs536150112 20q12 20 42199287C> A null R L 834 834 missense 0.076 benign 0.25 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs768093098 20q12 20 42199285T> C null N D 835 835 missense 0.984 probably damaging 0.56 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs746563629 20q12 20 42199283A> T null N K 835 835 missense 0.99 probably damaging 0.82 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs370192193 20q12 20 42199280A> T null D E 836 836 missense 0.0 benign 0.3 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs749979947 20q12 20 42199275C> G null G A 838 838 missense 0.0 benign 0.78 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs749979947 20q12 20 42199275C> A null G V 838 838 missense 0.001 benign 0.54 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs778174338 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42199269G> A null S F 840 840 missense 0.306 benign 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs766051611 20q12 20 42199263C> T null S N 842 842 missense 0.092 benign 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs753248650 20q12 20 42199262A> T null S R 842 842 missense 0.402 benign 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs767977370 20q12 20 42199260G> A null S F 843 843 missense 0.226 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs926931474 20q12 20 42199261A> T null S T 843 843 missense 0.0 benign 0.46 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1440549941 20q12 20 42199254T> C null D G 845 845 missense 0.994 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs377307459 20q12 20 42199255C> T null D N 845 845 missense 0.994 probably damaging 0.25 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs377307459 20q12 20 42199255C> A null D Y 845 845 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs573377632 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42199252C> T null V I 846 846 3.99E-4 missense 0.965 probably damaging 0.36 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs773555623 20q12 20 42199247G> C null N K 847 847 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs763239853 20q12 20 42199248T> C null N S 847 847 missense 0.984 probably damaging 0.2 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201911869 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42199246C> T null G R 848 848 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1357686860 20q12 20 42199243A> G null F L 849 849 missense 0.971 probably damaging 0.27 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1312560120 20q12 20 42199240T> C null T A 850 850 missense 0.009 benign 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs762081981 20q12 20 42161539T> C null D G 851 851 missense 0.022 benign 0.14 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs267605935 20q12 20 42161540C> T null D N 851 851 missense 0.0 benign 0.37 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs762081981 20q12 20 42161539T> A null D V 851 851 missense 0.022 benign 0.16 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1393395259 20q12 20 42161536C> T null G D 852 852 missense 0.001 benign 0.7 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs200718535 20q12 20 42161533C> A null S I 853 853 missense 0.609 possibly damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs760735173 20q12 20 42161531G> A null R C 854 854 missense 0.481 possibly damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373191879 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42161530C> T null R H 854 854 2.0E-4 missense 0.0 benign 0.57 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373191879 20q12 20 42161530C> G null R P 854 854 2.0E-4 missense 0.19 benign 0.47 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs760735173 20q12 20 42161531G> T null R S 854 854 missense 0.055 benign 0.55 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP rs368946816 20q12 20 42161527C> G null G A 855 855 missense 0.265 benign 0.23 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs745346735 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42161528C> T null G R 855 855 missense 0.845 possibly damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs781621750 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42161518G> A null S F 858 858 missense 0.226 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs748881709 20q12 20 42161519A> G null S P 858 858 missense 0.0 benign 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs755291953 20q12 20 42161506A> G null L P 862 862 missense 0.701 possibly damaging 0.26 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs368317330 20q12 20 42161503G> A null T M 863 863 missense 0.483 possibly damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs368317330 20q12 20 42161503G> C null T R 863 863 missense 0.743 possibly damaging 0.19 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1313774100 20q12 20 42161497T> A null Q L 865 865 missense 0.073 benign 0.3 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs890109557 20q12 20 42161494G> C null T S 866 866 missense 0.308 benign 0.99 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs765353986 20q12 20 42161491T> C null H R 867 867 missense 0.188 benign 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1273177042 20q12 20 42161485T> C null Y C 869 869 missense 0.599 possibly damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs757562149 [NCI-TCGA]: Variant assessed as Somatic; impact. 20q12 20 42161483G> A null R C 870 870 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs757562149 20q12 20 42161483G> C null R G 870 870 missense 0.986 probably damaging 0.2 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs372056802 20q12 20 42161482C> T null R H 870 870 missense 0.993 probably damaging 0.13 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs372056802 20q12 20 42161482C> A null R L 870 870 missense 0.986 probably damaging 0.17 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs757562149 20q12 20 42161483G> T null R S 870 870 missense 0.986 probably damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1272249885 20q12 20 42161479G> A null T I 871 871 missense 0.001 benign 0.17 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs897338066 20q12 20 42161480T> A null T S 871 871 missense 0.0 benign 0.72 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1458598044 20q12 20 42161473T> C null D G 873 873 missense 0.123 benign 0.48 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1343257768 20q12 20 42161471G> C null P A 874 874 missense 0.994 probably damaging 0.56 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1343257768 20q12 20 42161471G> A null P S 874 874 missense 0.995 probably damaging 0.46 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1157866097 20q12 20 42161468C> T null V M 875 875 missense 0.996 probably damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1014061770 20q12 20 42161460C> T null M I 877 877 missense 0.813 possibly damaging 0.87 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs775535515 20q12 20 42161461A> T null M K 877 877 missense 0.914 probably damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs6130063 20q12 20 42161458C> A null S I 878 878 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs767383329 20q12 20 42161456A> T null Y N 879 879 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1481819261 20q12 20 42161453G> A null P S 880 880 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs759416965 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42161449C> T null R Q 881 881 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1201649058 20q12 20 42161450G> A null R W 881 881 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs773863686 20q12 20 42161447C> G null D H 882 882 missense 0.569 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs773863686 20q12 20 42161447C> A null D Y 882 882 missense 0.495 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1037175540 20q12 20 42161439G> T null F L 884 884 missense 0.006 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,gnomAD rs373949298 20q12 20 42161435G> A null P S 886 886 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs61753667 20q12 20 42161432C> A null A S 887 887 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs61753667 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42161432C> T null A T 887 887 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs780417311 20q12 20 42161425C> A null R L 889 889 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs780417311 20q12 20 42161425C> G null R P 889 889 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs780417311 20q12 20 42161425C> T null R Q 889 889 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1357627666 20q12 20 42161426G> A null R W 889 889 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1303470283 20q12 20 42161412C> G null L F 893 893 missense 0.995 probably damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs757402269 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:24292195,cosmic_study:323,cosmic_study:563 20q12 20 42161398G> A null T M 898 898 missense 0.997 probably damaging 0.0 deleterious 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs764189636 20q12 20 42161389T> C null K R 901 901 missense 0.962 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1366458329 20q12 20 42161386C> T null R K 902 902 missense 0.893 possibly damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1437230315 20q12 20 42161384C> T null G S 903 903 missense 0.997 probably damaging 0.45 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1288089522 20q12 20 42161380T> C null Q R 904 904 missense 0.938 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs752454448 20q12 20 42161378C> A null G C 905 905 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs752454448 20q12 20 42161378C> T null G S 905 905 missense 0.999 probably damaging 0.18 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs759474238 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42161372C> T null G R 907 907 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl,NCI-TCGA rs724159843 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42161360C> T null E K 911 911 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs746391800 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42161354C> T null E K 913 913 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1216529130 20q12 20 42141996G> A null P S 916 916 missense 0.989 probably damaging 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs200204389 20q12 20 42141991C> G null E D 917 917 2.0E-4 missense 0.903 possibly damaging 0.2 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1480383792 20q12 20 42141989C> A null G V 918 918 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1057156850 20q12 20 42141985C> G null Q H 919 919 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs749916516 20q12 20 42141977G> A null S L 922 922 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs906166025 20q12 20 42141974C> T null W * 923 923 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs724159847 20q12 20 42141972C> T null D N 924 924 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs724159844 20q12 20 42141960C> T null E K 928 928 missense 0.975 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs761441812 20q12 20 42141957C> T null D N 929 929 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1389160956 20q12 20 42141948G> A null R C 932 932 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs776338672 20q12 20 42141947C> T null R H 932 932 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1568965777 20q12 20 42141943A> T null N K 933 933 missense 0.993 probably damaging 0.61 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1294592345 20q12 20 42141935C> T null R Q 936 936 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1468460412 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42141930C> T null G R 938 938 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs772618153 20q12 20 42141929C> A null G V 938 938 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1164669135 20q12 20 42141924T> C null I V 940 940 missense 0.84 possibly damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1473163818 20q12 20 42141918A> G null S P 942 942 missense 0.989 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1291558733 20q12 20 42128828C> G null D H 944 944 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs574677605 20q12 20 42128824T> C null H R 945 945 missense 0.959 probably damaging 0.41 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs866132388 20q12 20 42128821G> C null S C 946 946 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs866132388 20q12 20 42128821G> A null S F 946 946 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1303277916 cosmic curated [Cosmic]: pancreas cosmic_study:328 20q12 20 42128819G> A null R W 947 947 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs6093571 20q12 20 42128812C> T null R K 949 949 missense 0.928 probably damaging 0.68 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs73909220 20q12 20 42128804C> G null V L 952 952 0.01478 missense 0.0 benign 0.27 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1238347113 20q12 20 42128795C> T null G R 955 955 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1403175661 20q12 20 42128792C> G null D H 956 956 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs763638227 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42128788G> A null P L 957 957 missense 0.998 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs763638227 20q12 20 42128788G> C null P R 957 957 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1175824163 20q12 20 42128789G> T null P T 957 957 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1172883836 20q12 20 42128784G> T null H Q 958 958 missense 0.986 probably damaging 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1450021559 20q12 20 42128775G> T null Y * 961 961 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1041372116 20q12 20 42128777A> C null Y D 961 961 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs564685400 20q12 20 42128755T> C null D G 968 968 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1374515118 20q12 20 42128756C> T null D N 968 968 missense 0.99 probably damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs755670552 20q12 20 42119964T> C null H R 971 971 missense 0.959 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs200545231 20q12 20 42119961C> T null R Q 972 972 missense 0.973 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1295515790 20q12 20 42119958G> A null P L 973 973 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1283617915 20q12 20 42119959G> T null P T 973 973 missense 0.996 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs750813623 20q12 20 42119955C> G null R P 974 974 missense 0.247 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs750813623 [NCI-TCGA]: Variant assessed as Somatic; impact. 20q12 20 42119955C> T null R Q 974 974 missense 0.03 benign 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs754546663 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 20q12 20 42119956G> A null R W 974 974 missense 0.593 possibly damaging 0.0 deleterious 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1444440253 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42119943G> A null A V 978 978 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,gnomAD rs367739404 20q12 20 42119937T> G null Q P 980 980 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1166829821 20q12 20 42119935C> T null G S 981 981 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs752831315 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42118497G> A null P L 982 982 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1350206460 20q12 20 42118494A> G null M T 983 983 missense 0.97 probably damaging 0.45 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs762330946 20q12 20 42118482A> G null V A 987 987 missense 0.996 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1438662626 20q12 20 42118478C> G null K N 988 988 missense 0.995 probably damaging 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1289236573 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42118449T> C null N S 998 998 missense 0.935 probably damaging 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs762809890 20q12 20 42118444C> A null A S 1000 1000 missense 0.998 probably damaging 0.47 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs762809890 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42118444C> T null A T 1000 1000 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1260893070 20q12 20 42118438T> A null I F 1002 1002 missense 0.113 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs199637632 20q12 20 42118435C> T null V I 1003 1003 missense 0.922 probably damaging 0.23 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1396398139 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42118432T> C null M V 1004 1004 missense 0.765 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs769873805 20q12 20 42118425G> C null T R 1006 1006 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1454235677 20q12 20 42118423T> C null N D 1007 1007 missense 0.975 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1195105599 20q12 20 42118422T> C null N S 1007 1007 missense 0.935 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1485129344 20q12 20 42118417C> T null V M 1009 1009 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41310016 20q12 20 42115305A> G null V A 1017 1017 0.001398 missense 0.992 probably damaging 0.31 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs763964405 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 20q12 20 42115303G> A null R * 1018 1018 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs868489194 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42115302C> T null R Q 1018 1018 missense 0.973 probably damaging 0.19 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1568945224 20q12 20 42115296C> T null W * 1020 1020 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1287380722 20q12 20 42115293G> A null P L 1021 1021 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs891075677 20q12 20 42115289A> T null D E 1022 1022 missense 0.956 probably damaging 0.31 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1453102976 20q12 20 42115290T> C null D G 1022 1022 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1174126893 20q12 20 42115285T> C null T A 1024 1024 missense 0.935 probably damaging 0.14 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199514226 20q12 20 42115284G> T null T K 1024 1024 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199514226 20q12 20 42115284G> A null T M 1024 1024 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199514226 20q12 20 42115284G> C null T R 1024 1024 2.0E-4 missense 0.998 probably damaging 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs977570241 20q12 20 42115280C> A null E D 1025 1025 missense 0.935 probably damaging 0.29 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1197899605 20q12 20 42115282C> G null E Q 1025 1025 missense 0.984 probably damaging 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs188297454 20q12 20 42115279C> A null V F 1026 1026 5.99E-4 missense 0.993 probably damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs375441200 20q12 20 42115273C> A null G * 1028 1028 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375441200 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42115273C> T null G R 1028 1028 missense 1.0 probably damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs770232034 20q12 20 42115251A> G null I T 1035 1035 missense 0.981 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs748491734 20q12 20 42115248T> C null E G 1036 1036 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs781571231 20q12 20 42115242T> C null E G 1038 1038 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs769056184 20q12 20 42115240G> A null P S 1039 1039 missense 0.993 probably damaging 0.61 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs758531464 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary cosmic_study:585 20q12 20 42115225C> T null V I 1044 1044 missense 0.958 probably damaging 0.06 tolerated 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369430281 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42115219G> A null R C 1046 1046 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374930365 20q12 20 42115218C> T null R H 1046 1046 2.0E-4 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374930365 20q12 20 42115218C> G null R P 1046 1046 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1399962336 20q12 20 42115211G> C null F L 1048 1048 missense 0.977 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1475596528 20q12 20 42115207C> T null V I 1050 1050 missense 0.955 probably damaging 0.28 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs978028316 20q12 20 42115199C> A null K N 1052 1052 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs963377116 20q12 20 42110477T> C null H R 1056 1056 missense 0.989 probably damaging 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs761154168 20q12 20 42110474T> G null E A 1057 1057 missense 0.995 probably damaging 0.43 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs775945479 20q12 20 42110468C> T null R Q 1059 1059 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1166590993 20q12 20 42110469G> A null R W 1059 1059 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1158638222 20q12 20 42110460G> A null R C 1062 1062 missense 0.999 probably damaging 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs536918490 20q12 20 42110459C> T null R H 1062 1062 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1255298948 20q12 20 42110449G> C null H Q 1065 1065 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1469147605 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42110450T> C null H R 1065 1065 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1178602063 20q12 20 42110451G> A null H Y 1065 1065 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1275959737 20q12 20 42110446G> C null F L 1066 1066 missense 0.5 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs774357172 20q12 20 42110448A> G null F L 1066 1066 missense 0.5 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1216619703 20q12 20 42110445T> C null T A 1067 1067 missense 0.11 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs771033367 20q12 20 42110444G> A null T I 1067 1067 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs749525189 20q12 20 42110441C> G null S T 1068 1068 missense 0.142 benign 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1306943305 20q12 20 42110433C> G null D H 1071 1071 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111792993 20q12 20 42110428G> C null H Q 1072 1072 0.004193 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs747961781 20q12 20 42110427C> T null G S 1073 1073 missense 0.73 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs780908301 20q12 20 42110424C> T null V I 1074 1074 missense 0.109 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs724159846 20q12 20 42110420G> A null P L 1075 1075 missense 0.592 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1461001004 20q12 20 42110414T> C null Y C 1077 1077 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs754915952 20q12 20 42110415A> G null Y H 1077 1077 missense 0.922 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,gnomAD rs374135283 20q12 20 42110411G> A null A V 1078 1078 missense 0.766 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs777160048 20q12 20 42110392G> C null F L 1084 1084 missense 0.268 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1358914349 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42110391C> T null V I 1085 1085 missense 0.101 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs757894088 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42110388G> A null R C 1086 1086 missense 0.889 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs749859329 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42110387C> T null R H 1086 1086 missense 0.727 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1458578686 20q12 20 42110381A> G null V A 1088 1088 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1349646966 20q12 20 42110378T> C null K R 1089 1089 missense 0.328 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1189826014 20q12 20 42110372A> G null L P 1091 1091 missense 0.998 probably damaging 0.32 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1434697447 20q12 20 42110370T> C null N D 1092 1092 missense 0.994 probably damaging 0.3 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1242881901 20q12 20 42110368G> C null N K 1092 1092 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs765002162 20q12 20 42110369T> C null N S 1092 1092 missense 0.982 probably damaging 0.28 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs761497190 20q12 20 42110367G> C null P A 1093 1093 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs761497190 20q12 20 42110367G> T null P T 1093 1093 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs775998497 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42110363G> A null P L 1094 1094 missense 0.029 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1445309369 20q12 20 42110364G> T null P T 1094 1094 missense 0.506 possibly damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs771347183 20q12 20 42110348A> G null I T 1099 1099 missense 0.971 probably damaging 0.22 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs745786017 20q12 20 42106919G> C null A G 1105 1105 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs778619544 20q12 20 42106916C> G null G A 1106 1106 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs724159848 20q12 20 42106911C> T null G R 1108 1108 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed rs756810336 20q12 20 42106907C> T null R Q 1109 1109 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs753588236 20q12 20 42106897G> C null C W 1112 1112 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs777602624 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42106893T> C null I V 1114 1114 missense 0.0 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs997633979 20q12 20 42106889G> A null A V 1115 1115 missense 0.987 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,gnomAD rs541455681 20q12 20 42106882G> T null D E 1117 1117 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1400066941 20q12 20 42106881T> C null T A 1118 1118 missense 0.025 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs763584414 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42106863C> T null E K 1124 1124 missense 0.985 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1164153820 20q12 20 42106860T> A null N Y 1125 1125 missense 0.998 probably damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1453093376 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42106857C> T null E K 1126 1126 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs750916964 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42106853C> T null G E 1127 1127 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1408581144 20q12 20 42106851C> T null V M 1128 1128 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1320749118 20q12 20 42106845C> T null D N 1130 1130 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs761910971 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42106830C> T null V M 1135 1135 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs776642212 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42106827G> A null R C 1136 1136 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs182388300 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42106826C> T null R H 1136 1136 3.99E-4 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs776642212 20q12 20 42106827G> T null R S 1136 1136 missense 0.993 probably damaging 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1222754595 20q12 20 42106821G> T null L I 1138 1138 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs775419119 20q12 20 42106817C> T null R Q 1139 1139 missense 0.999 probably damaging 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1243407933 20q12 20 42106818G> A null R W 1139 1139 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1209632836 20q12 20 42106815C> T null A T 1140 1140 missense 0.031 benign 0.11 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs866676341 20q12 20 42106811T> C null Q R 1141 1141 missense 0.989 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs745862490 20q12 20 42106807C> A null R S 1142 1142 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs770955919 20q12 20 42106802T> C null N S 1144 1144 missense 0.982 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs778967079 20q12 20 42106803T> A null N Y 1144 1144 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs61741566 20q12 20 42106796A> C null V G 1146 1146 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1443640813 20q12 20 42106797C> T null V I 1146 1146 missense 0.917 probably damaging 0.39 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201830301 20q12 20 42106790G> C null T R 1148 1148 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1264956973 20q12 20 42104711T> G null Y S 1152 1152 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375491453 20q12 20 42104708A> T null V E 1153 1153 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs745489409 20q12 20 42104709C> T null V M 1153 1153 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs746243026 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42104697C> T null D N 1157 1157 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1026387071 20q12 20 42104690A> G null I T 1159 1159 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs757825216 20q12 20 42104687A> C null L R 1160 1160 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs756112582 20q12 20 42104678C> T null C Y 1163 1163 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs752786172 20q12 20 42104673A> G null C R 1165 1165 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs767659521 20q12 20 42104672C> T null C Y 1165 1165 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs759776463 20q12 20 42104669C> T null G D 1166 1166 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1299441440 20q12 20 42104667T> C null N D 1167 1167 missense 0.984 probably damaging 0.72 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201162919 20q12 20 42104665G> T null N K 1167 1167 3.99E-4 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs959243125 20q12 20 42104664T> C null T A 1168 1168 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs769386802 20q12 20 42104657A> G null I T 1170 1170 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1425286016 20q12 20 42104654G> A null P L 1171 1171 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs747633323 20q12 20 42104652C> A null V L 1172 1172 missense 0.78 possibly damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,TOPMed rs375317167 20q12 20 42104648C> A null C F 1173 1173 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs370508724 20q12 20 42104640G> A null R C 1176 1176 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs201275244 [NCI-TCGA]: Variant assessed as Somatic; impact. 20q12 20 42104639C> T null R H 1176 1176 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs724159849 20q12 20 42104636G> A null S F 1177 1177 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs995546163 20q12 20 42104630T> C null Y C 1179 1179 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs779305073 20q12 20 42104628A> T null Y N 1180 1180 missense 0.996 probably damaging 0.17 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1379394015 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42104618C> T null S N 1183 1183 missense 0.971 probably damaging 0.24 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1196725481 20q12 20 42104612A> C null L R 1185 1185 missense 0.879 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs757592521 20q12 20 42104608G> T null D E 1186 1186 missense 0.99 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1320500608 20q12 20 42104610C> A null D Y 1186 1186 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs548890667 20q12 20 42104607G> C null P A 1187 1187 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,gnomAD rs548890667 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42104607G> A null P S 1187 1187 missense 0.995 probably damaging 0.33 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs548890667 20q12 20 42104607G> T null P T 1187 1187 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1256310275 20q12 20 42104602C> A null Q H 1188 1188 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs778170735 20q12 20 42104601T> C null T A 1189 1189 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs879765348 20q12 20 42104600G> A null T I 1189 1189 missense 0.996 probably damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs780873430 20q12 20 42104591C> A null S I 1192 1192 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs752734930 20q12 20 42104586T> C null I V 1194 1194 missense 0.856 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1447196342 20q12 20 42104570T> A null Q L 1199 1199 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1442090227 20q12 20 42102294G> A null L F 1201 1201 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1033432079 20q12 20 42102284A> G null V A 1204 1204 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1033432079 20q12 20 42102284A> T null V E 1204 1204 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1220931231 20q12 20 42102281G> A null T I 1205 1205 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1478583387 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42102279G> T null P T 1206 1206 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs765075213 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42102276G> A null R C 1207 1207 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs753788938 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42102275C> T null R H 1207 1207 missense 0.995 probably damaging 0.4 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs753788938 20q12 20 42102275C> G null R P 1207 1207 missense 0.995 probably damaging 0.27 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs201064715 20q12 20 42102269C> T null R Q 1209 1209 missense 0.982 probably damaging 0.45 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,dbSNP,gnomAD rs370873414 cosmic curated [UniProt]: a colorectal cancer; reduced phosphatase activity, [Cosmic]: lung pubmed:15155950 cosmic_study:583 20q12 20 42102270G> A null R W 1209 1209 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs759164094 20q12 20 42102267G> A null P S 1210 1210 missense 0.995 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs759164094 20q12 20 42102267G> T null P T 1210 1210 missense 0.997 probably damaging 0.26 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs770182876 [NCI-TCGA]: Variant assessed as Somatic; impact. 20q12 20 42102264C> T null E K 1211 1211 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs866581671 20q12 20 42102261C> T null D N 1212 1212 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs748653543 20q12 20 42102254C> A null S I 1214 1214 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs748653543 20q12 20 42102254C> T null S N 1214 1214 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs200297995 20q12 20 42102251A> G null I T 1215 1215 missense 0.974 probably damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1338443808 20q12 20 42102248C> G null G A 1216 1216 missense 0.997 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1298272808 20q12 20 42102239G> A null P L 1219 1219 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1172225253 20q12 20 42102240G> A null P S 1219 1219 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372862828 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42102236C> T null R Q 1220 1220 2.0E-4 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1479203418 20q12 20 42102237G> A null R W 1220 1220 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs780215457 20q12 20 42102230T> C null H R 1222 1222 missense 0.974 probably damaging 0.92 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs200227405 20q12 20 42102218C> T null R Q 1226 1226 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149070505 20q12 20 42102216T> C null S G 1227 1227 5.99E-4 missense 0.019 benign 0.32 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC rs757043049 20q12 20 42102212A> G null M T 1228 1228 missense 0.914 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs755992110 20q12 20 42102207C> A null V L 1230 1230 missense 0.98 probably damaging 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs755992110 20q12 20 42102207C> T null V M 1230 1230 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs542883658 20q12 20 42102204G> C null L V 1231 1231 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs767012239 20q12 20 42102198G> C null L V 1233 1233 missense 0.984 probably damaging 0.05 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs914506046 20q12 20 42102192G> A null R C 1235 1235 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs372700928 20q12 20 42102191C> T null R H 1235 1235 missense 0.995 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs372700928 20q12 20 42102191C> A null R L 1235 1235 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs762270341 20q12 20 42102185A> G null L P 1237 1237 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1223495492 20q12 20 42102164T> C null D G 1244 1244 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs747513450 20q12 20 42102162C> T null G R 1245 1245 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs888330774 [NCI-TCGA]: Variant assessed as Somatic; impact. 20q12 20 42102140T> C null N S 1252 1252 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs184977298 20q12 20 42102135C> T null A T 1254 1254 0.001198 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs557377303 20q12 20 42102128A> G null M T 1256 1256 2.0E-4 missense 0.914 probably damaging 0.28 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1173135889 20q12 20 42102125T> C null D G 1257 1257 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1468348359 20q12 20 42098545T> C null K R 1260 1260 missense 0.984 probably damaging 0.69 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1239953098 20q12 20 42098542T> C null Q R 1261 1261 missense 0.961 probably damaging 0.67 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs200157212 20q12 20 42098534C> T null A T 1264 1264 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs779424662 20q12 20 42098533G> A null A V 1264 1264 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs761148007 20q12 20 42098528C> G null V L 1266 1266 missense 0.001 benign 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,dbSNP,gnomAD rs761148007 [UniProt]: a colorectal cancer pubmed:15155950 20q12 20 42098528C> T null V M 1266 1266 missense 0.067 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138377903 20q12 20 42098522T> C null T A 1268 1268 0.002396 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs375402843 20q12 20 42098498C> T null V M 1276 1276 2.0E-4 missense 0.272 benign 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1364020370 20q12 20 42098494G> A null A V 1277 1277 missense 0.045 benign 0.39 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1489143829 20q12 20 42098480G> C null L V 1282 1282 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs747961840 20q12 20 42098476A> C null V G 1283 1283 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs769964562 20q12 20 42098477C> A null V L 1283 1283 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs769964562 20q12 20 42098477C> T null V M 1283 1283 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs376065743 20q12 20 42098472G> C null F L 1284 1284 missense 0.971 probably damaging 0.37 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1288844630 20q12 20 42098473A> G null F S 1284 1284 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs779663880 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42098471C> T null D N 1285 1285 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1291303505 20q12 20 42098464T> C null N S 1287 1287 missense 0.984 probably damaging 0.16 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1302171855 20q12 20 42098461C> T null C Y 1288 1288 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1293001861 20q12 20 42098458G> C null S C 1289 1289 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs780892091 20q12 20 42098459A> T null S T 1289 1289 missense 0.971 probably damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1361050484 20q12 20 42098436C> G null E D 1296 1296 missense 0.984 probably damaging 0.71 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs896375033 20q12 20 42098438C> T null E K 1296 1296 missense 0.984 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1417581926 20q12 20 42098434A> T null M K 1297 1297 missense 0.914 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs778725916 20q12 20 42098435T> A null M L 1297 1297 missense 0.721 possibly damaging 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1350144317 20q12 20 42098428G> A null T I 1299 1299 missense 0.067 benign 0.22 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs919368645 20q12 20 42098426C> T null A T 1300 1300 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs866502487 20q12 20 42098425G> A null A V 1300 1300 missense 0.99 probably damaging 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1568911942 20q12 20 42085852A> G null F S 1302 1302 missense 0.0 benign 0.4 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1335588221 20q12 20 42085835G> A null P S 1308 1308 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs764336455 20q12 20 42085825G> A null T I 1311 1311 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1167887381 20q12 20 42085822G> A null S F 1312 1312 missense 0.079 benign 0.13 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs775362831 20q12 20 42085820C> T null G R 1313 1313 missense 0.001 benign 0.46 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs772137373 20q12 20 42085819C> A null G V 1313 1313 missense 0.0 benign 0.56 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61740451 20q12 20 42085817A> C null C G 1314 1314 7.99E-4 missense 0.974 probably damaging 0.13 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61740451 20q12 20 42085817A> T null C S 1314 1314 7.99E-4 missense 0.974 probably damaging 0.18 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1242927191 20q12 20 42085813T> C null Y C 1315 1315 missense 0.614 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1242927191 20q12 20 42085813T> G null Y S 1315 1315 missense 0.053 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs911474865 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42085807G> A null P L 1317 1317 missense 0.02 benign 0.2 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1290640986 20q12 20 42085800C> G null Q H 1319 1319 missense 0.342 benign 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1195276406 20q12 20 42085794C> G null E D 1321 1321 missense 0.079 benign 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1228688924 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42085796C> T null E K 1321 1321 missense 0.079 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs777325904 20q12 20 42085790C> T null V I 1323 1323 missense 0.036 benign 0.32 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs777325904 20q12 20 42085790C> G null V L 1323 1323 missense 0.007 benign 0.38 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs747347462 20q12 20 42085784C> A null A S 1325 1325 missense 0.993 probably damaging 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs747347462 20q12 20 42085784C> T null A T 1325 1325 missense 0.992 probably damaging 0.21 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1447304698 20q12 20 42085781C> G null D H 1326 1326 missense 0.628 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs765339833 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42085775C> T null D N 1328 1328 missense 0.197 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs753905388 20q12 20 42085757T> C null R G 1334 1334 missense 0.05 benign 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1176843344 20q12 20 42085756C> A null R I 1334 1334 missense 0.176 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1381847047 20q12 20 42085749G> C null F L 1336 1336 missense 0.961 probably damaging 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs760880188 20q12 20 42085748G> A null R C 1337 1337 missense 0.454 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1441976520 20q12 20 42085747C> T null R H 1337 1337 missense 0.454 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs775489787 20q12 20 42085729C> T null R Q 1343 1343 missense 0.072 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs956451753 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42085730G> A null R W 1343 1343 missense 0.711 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs761491647 20q12 20 42084841T> C null Q R 1345 1345 missense 0.0 benign 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs754595140 20q12 20 42084838T> C null D G 1346 1346 missense 0.131 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1490132204 20q12 20 42084836C> A null G C 1347 1347 missense 0.518 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1013483274 20q12 20 42084835C> A null G V 1347 1347 missense 0.003 benign 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl,dbSNP rs1568910321 [UniProt]: a colorectal cancer pubmed:15155950 20q12 20 42084832T> A null Y F 1348 1348 missense 0.183 benign 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1318044562 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42084830G> A null R C 1349 1349 missense 0.258 benign 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1318044562 20q12 20 42084830G> C null R G 1349 1349 missense 0.026 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs528913627 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42084829C> T null R H 1349 1349 2.0E-4 missense 0.34 benign 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs528913627 20q12 20 42084829C> G null R P 1349 1349 2.0E-4 missense 0.113 benign 0.08 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1318044562 20q12 20 42084830G> T null R S 1349 1349 missense 0.026 benign 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1174574627 20q12 20 42084808T> G null Y S 1356 1356 missense 0.187 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1446903475 20q12 20 42084806T> G null I L 1357 1357 missense 0.007 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1446903475 20q12 20 42084806T> C null I V 1357 1357 missense 0.022 benign 0.05 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1480117361 20q12 20 42084797G> C null P A 1360 1360 missense 0.033 benign 0.27 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1164811346 20q12 20 42084796G> A null P L 1360 1360 missense 0.053 benign 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1480117361 20q12 20 42084797G> T null P T 1360 1360 missense 0.0 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,TOPMed,gnomAD rs374501675 20q12 20 42084793G> A null A V 1361 1361 missense 0.053 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200056702 20q12 20 42084788G> C null R G 1363 1363 2.0E-4 missense 0.041 benign 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs752787425 20q12 20 42084787C> T null R Q 1363 1363 missense 0.068 benign 0.15 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200056702 20q12 20 42084788G> A null R W 1363 1363 2.0E-4 missense 0.409 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs199947379 NCI-TCGA Cosmic [ClinVar]: Intellectual functioning disability, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: found in a patient with severe intellectual disability, behavioral problems, microcephaly, congenital cardiac defect and herniation of the abdominal diaphragm; also observed in some colorectal cancers; reduced phosphatase activity; unknown pathological significance pubmed:15155950,pubmed:24123876 pubmed:24123876 20q12 20 42084781G> A null T M 1365 1365 missense 0.077 benign 0.01 deleterious 0 Intellectual functioning disability pubmed:21956720,ClinVar:RCV000077793 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs539998222 20q12 20 42084776G> C null P A 1367 1367 2.0E-4 missense 0.022 benign 0.55 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs761334315 20q12 20 42084775G> T null P H 1367 1367 missense 0.001 benign 0.54 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs761334315 20q12 20 42084775G> A null P L 1367 1367 missense 0.075 benign 0.66 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs761334315 20q12 20 42084775G> C null P R 1367 1367 missense 0.054 benign 0.36 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs539998222 20q12 20 42084776G> A null P S 1367 1367 2.0E-4 missense 0.036 benign 0.43 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs539998222 20q12 20 42084776G> T null P T 1367 1367 2.0E-4 missense 0.068 benign 0.41 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs768298187 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42084767G> A null R C 1370 1370 missense 0.528 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1270158620 20q12 20 42084766C> T null R H 1370 1370 missense 0.454 possibly damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1019505199 20q12 20 42084764A> C null S A 1371 1371 missense 0.023 benign 0.33 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ESP,ExAC,gnomAD rs374031743 20q12 20 42084754T> C null K R 1374 1374 missense 0.003 benign 0.44 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1462727415 20q12 20 42084746G> C null R G 1377 1377 missense 0.041 benign 0.34 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs180871064 [NCI-TCGA]: Variant assessed as Somatic; impact. 20q12 20 42084745C> T null R Q 1377 1377 2.0E-4 missense 0.072 benign 0.63 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs773803715 20q12 20 42084743G> A null R * 1378 1378 stop gained 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs773803715 20q12 20 42084743G> C null R G 1378 1378 missense 0.026 benign 0.07 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs770379585 20q12 20 42084742C> A null R L 1378 1378 missense 0.041 benign 0.33 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs770379585 20q12 20 42084742C> T null R Q 1378 1378 missense 0.046 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1417250081 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42084737C> T null E K 1380 1380 missense 0.053 benign 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1472972708 20q12 20 42084729C> A null W C 1382 1382 missense 0.513 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs748255541 20q12 20 42084730C> G null W S 1382 1382 missense 0.036 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs199829523 20q12 20 42084724T> C null E G 1384 1384 missense 0.199 benign 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1555857585 20q12 20 42084722G> C null Q E 1385 1385 missense 0.015 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC rs755319056 20q12 20 42084719A> C null Y D 1386 1386 missense 0.44 benign 0.17 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs779764608 20q12 20 42084713C> T null G R 1388 1388 missense 0.114 benign 0.03 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs779764608 20q12 20 42084713C> A null G W 1388 1388 missense 0.747 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs914175299 20q12 20 42084710T> C null R G 1389 1389 missense 0.0 benign 1.0 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs758242008 20q12 20 42084709C> T null R K 1389 1389 missense 0.068 benign 0.27 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs1057142087 20q12 20 42084706T> C null E G 1390 1390 missense 0.0 benign 0.14 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1305277749 20q12 20 42084701G> A null R C 1392 1392 missense 0.528 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1272852268 20q12 20 42084700C> T null R H 1392 1392 missense 0.078 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs750134957 20q12 20 42084697G> C null T S 1393 1393 missense 0.033 benign 0.04 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1452432737 20q12 20 42084692C> T null V I 1395 1395 missense 0.006 benign 0.1 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs765232923 20q12 20 42084687G> C null H Q 1396 1396 missense 0.043 benign 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs724159836 20q12 20 42082010C> T null G R 1401 1401 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs780343691 20q12 20 42082006C> G null G A 1402 1402 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs144244064 20q12 20 42082004G> A null R C 1403 1403 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151076965 20q12 20 42082003C> T null R H 1403 1403 0.002196 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1161104430 20q12 20 42081997C> T null G E 1405 1405 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1490706945 20q12 20 42081982A> G null I T 1410 1410 missense 0.964 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1191239330 20q12 20 42081983T> C null I V 1410 1410 missense 0.811 possibly damaging 0.29 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1193801132 20q12 20 42081962T> C null I V 1417 1417 missense 0.811 possibly damaging 0.13 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs767215655 20q12 20 42081950T> A null N Y 1421 1421 missense 0.996 probably damaging 0.23 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs750866580 20q12 20 42081946A> T null I N 1422 1422 missense 0.989 probably damaging 0.3 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs540166971 20q12 20 42081942A> C null I M 1423 1423 2.0E-4 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs943054949 20q12 20 42081938C> T null V M 1425 1425 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs77576329 20q12 20 42081933G> C null F L 1426 1426 3.99E-4 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1404253121 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42081931T> C null H R 1427 1427 missense 0.964 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1290388722 20q12 20 42081929T> C null I V 1428 1428 missense 0.811 possibly damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs760820896 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42081926C> T null V M 1429 1429 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes rs188293712 20q12 20 42081920T> C null T A 1431 1431 2.0E-4 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1174632543 20q12 20 42081919G> C null T R 1431 1431 missense 0.994 probably damaging 0.09 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs746059787 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42081914G> A null R C 1433 1433 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,NCI-TCGA,TOPMed,gnomAD rs778726076 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 42081913C> T null R H 1433 1433 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs770678610 20q12 20 42081901G> A null S F 1437 1437 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1444719716 20q12 20 42081895A> G null M T 1439 1439 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed rs1401295579 20q12 20 42081896T> C null M V 1439 1439 missense 0.65 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1485757323 20q12 20 42081887T> A null T S 1442 1442 missense 0.0 benign 0.19 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase gnomAD rs1409978405 20q12 20 42080926A> G null Y H 1446 1446 missense 0.714 possibly damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs780807494 20q12 20 42080917C> T null V I 1449 1449 missense 0.949 probably damaging 0.12 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs780807494 20q12 20 42080917C> A null V L 1449 1449 missense 0.949 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase 1000Genomes,ExAC,TOPMed,gnomAD rs568484928 20q12 20 42080911C> T null E K 1451 1451 2.0E-4 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs754318111 20q12 20 42080908C> G null V L 1452 1452 missense 0.949 probably damaging 0.35 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs754318111 20q12 20 42080908C> T null V M 1452 1452 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1179513181 20q12 20 42080904G> T null A E 1453 1453 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase TOPMed,gnomAD rs1179513181 20q12 20 42080904G> A null A V 1453 1453 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase Ensembl rs724159851 20q12 20 42080899C> T null E K 1455 1455 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs756693020 20q12 20 42080887A> G null S P 1459 1459 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,TOPMed,gnomAD rs753112852 20q12 20 42080881A> G null * Q 1461 1461 stop lost 0 A0A075B6H0 PTPRT Protein-tyrosine-phosphatase ExAC,gnomAD rs758115900 20q12 20 42080879de l null * Y 1461 1461 stop lost 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1338271997 1p36.13 1 19780755C> G null A P 2 2 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs750751023 1p36.13 1 19780748C> A null W L 4 4 missense 0.009 benign 0.46 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1195491563 1p36.13 1 19780746T> C null N D 5 5 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs765692653 1p36.13 1 19780745T> C null N S 5 5 missense 0.001 benign 0.18 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs776881364 1p36.13 1 19780739G> A null P L 7 7 missense 0.02 benign 0.06 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1289505025 1p36.13 1 19780737A> G null C R 8 8 missense 0.0 benign 0.86 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs764253154 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p36.13 1 19780736C> T null C Y 8 8 missense 0.007 benign 0.21 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs933411662 1p36.13 1 19780734G> C null Q E 9 9 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,gnomAD rs374432620 1p36.13 1 19780732C> G null Q H 9 9 missense 0.319 benign 0.21 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs933411662 1p36.13 1 19780734G> T null Q K 9 9 missense 0.003 benign 0.9 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs775443953 1p36.13 1 19780731T> C null R G 10 10 missense 0.199 benign 0.09 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs141904872 1p36.13 1 19780725G> C null P A 12 12 missense 0.188 benign 0.43 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,TOPMed rs577478761 1p36.13 1 19780724G> A null P L 12 12 2.0E-4 missense 0.035 benign 0.54 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,NCI-TCGA,TOPMed rs534456252 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p36.13 1 19780722G> T null Q K 13 13 2.0E-4 missense 0.087 benign 0.36 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,TOPMed rs573503819 1p36.13 1 19780721T> C null Q R 13 13 2.0E-4 missense 0.173 benign 0.4 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1327741069 1p36.13 1 19780718T> C null Q R 14 14 missense 0.005 benign 0.53 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1352458907 1p36.13 1 19780715G> A null P L 15 15 missense 0.098 benign 0.15 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs538881434 1p36.13 1 19780712A> G null L P 16 16 missense 0.003 benign 0.32 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,gnomAD rs140986084 1p36.13 1 19780710C> T null V I 17 17 missense 0.009 benign 0.25 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs770694925 1p36.13 1 19780698T> C null T A 21 21 missense 0.0 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1436890593 1p36.13 1 19780690C> A null E D 23 23 missense 0.007 benign 0.17 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1162264133 1p36.13 1 19780692C> T null E K 23 23 missense 0.149 benign 0.13 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs369300085 1p36.13 1 19780688C> G null G A 24 24 missense 0.007 benign 0.4 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs769356583 1p36.13 1 19780686C> T null E K 25 25 missense 0.041 benign 0.08 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs769356583 1p36.13 1 19780686C> G null E Q 25 25 missense 0.022 benign 0.21 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1181356132 1p36.13 1 19780685T> A null E V 25 25 missense 0.013 benign 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs747638378 1p36.13 1 19780678G> C null H Q 27 27 missense 0.001 benign 0.59 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs780573948 1p36.13 1 19780670G> A null T M 30 30 missense 0.045 benign 0.12 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1490134526 1p36.13 1 19780667C> T null G D 31 31 missense 0.773 possibly damaging 0.09 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1490134526 1p36.13 1 19780667C> A null G V 31 31 missense 0.462 possibly damaging 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs757654237 1p36.13 1 19780664C> T null R Q 32 32 missense 0.014 benign 0.26 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs779603374 1p36.13 1 19780665G> A null R W 32 32 missense 0.84 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1441997121 1p36.13 1 19780656T> C null T A 35 35 missense 0.001 benign 0.32 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs754174648 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1p36.13 1 19780655G> A null T I 35 35 missense 0.133 benign 0.03 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1350800982 1p36.13 1 19780649G> A null A V 37 37 missense 0.835 possibly damaging 0.45 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1278517058 1p36.13 1 19780647T> C null N D 38 38 missense 0.234 benign 0.14 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1236265166 1p36.13 1 19780646T> C null N S 38 38 missense 0.234 benign 0.31 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs573069859 1p36.13 1 19780644G> A null R C 39 39 5.99E-4 missense 0.992 probably damaging 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145733113 cosmic curated [Cosmic]: pancreas cosmic_study:382 1p36.13 1 19780643C> T null R H 39 39 3.99E-4 missense 0.977 probably damaging 0.01 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145733113 1p36.13 1 19780643C> G null R P 39 39 3.99E-4 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs573069859 1p36.13 1 19780644G> T null R S 39 39 5.99E-4 missense 0.933 probably damaging 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs767567806 1p36.13 1 19780640A> G null F S 40 40 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376327918 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19780638C> T null A T 41 41 3.99E-4 missense 0.026 benign 0.07 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs553142421 1p36.13 1 19780634T> C null Y C 42 42 5.99E-4 missense 0.108 benign 0.09 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs770889130 1p36.13 1 19780635A> G null Y H 42 42 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs983352596 1p36.13 1 19780631G> A null A V 43 43 missense 0.984 probably damaging 0.14 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs769423306 1p36.13 1 19780628G> A null A V 44 44 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs139365684 1p36.13 1 19780626G> A null L F 45 45 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs139365684 1p36.13 1 19780626G> C null L V 45 45 missense 0.646 possibly damaging 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1379546376 1p36.13 1 19780623A> G null C R 46 46 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1027518700 1p36.13 1 19780619C> T null G D 47 47 missense 0.462 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes rs538764800 1p36.13 1 19780617T> C null I V 48 48 2.0E-4 missense 0.003 benign 0.88 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs768249645 1p36.13 1 19780608A> G null S P 51 51 missense 0.946 probably damaging 0.21 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs994653332 1p36.13 1 19780603C> G null Q H 52 52 missense 0.503 possibly damaging 0.57 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs746548619 1p36.13 1 19780601A> T null L * 53 53 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1208765617 1p36.13 1 19780593C> T null E K 56 56 missense 0.92 probably damaging 0.35 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1346549024 1p36.13 1 19780589G> A null P L 57 57 missense 0.6 possibly damaging 0.07 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs141683364 1p36.13 1 19780587C> T null E K 58 58 missense 0.22 benign 0.19 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141517316 1p36.13 1 19780583T> C null H R 59 59 2.0E-4 missense 0.062 benign 0.09 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1410296189 1p36.13 1 19771481A> G null S P 61 61 missense 0.012 benign 0.21 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs778389972 1p36.13 1 19771474C> G null C S 63 63 missense 0.832 possibly damaging 0.13 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1227875514 1p36.13 1 19771471G> A null T I 64 64 missense 0.005 benign 0.17 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs756406801 1p36.13 1 19771469C> A null E * 65 65 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1014833444 1p36.13 1 19771463T> C null M V 67 67 missense 0.0 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1304132425 1p36.13 1 19771459G> T null A E 68 68 missense 0.007 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs748580952 1p36.13 1 19771456C> T null G D 69 69 missense 0.059 benign 0.52 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs748580952 1p36.13 1 19771456C> A null G V 69 69 missense 0.84 possibly damaging 0.21 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs10917536 1p36.13 1 19771448G> T null Q K 72 72 0.379 missense 0.0 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs200726577 1p36.13 1 19771438T> C null E G 75 75 missense 0.026 benign 0.41 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs201750579 1p36.13 1 19771439C> G null E Q 75 75 missense 0.015 benign 0.43 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC rs765251040 1p36.13 1 19771434C> A null L F 76 76 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs750306529 1p36.13 1 19771436A> C null L V 76 76 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC rs761466243 1p36.13 1 19771432G> T null S Y 77 77 missense 0.894 possibly damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC rs763771296 1p36.13 1 19771430C> A null E * 78 78 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs958455109 1p36.13 1 19771426G> C null A G 79 79 missense 0.287 benign 0.16 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1156865075 1p36.13 1 19771427C> T null A T 79 79 missense 0.018 benign 0.38 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1417790071 1p36.13 1 19771418G> T null P T 82 82 missense 0.942 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs775338251 1p36.13 1 19771410C> A null M I 84 84 missense 0.007 benign 0.1 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs771455911 1p36.13 1 19771408G> A null T I 85 85 missense 0.149 benign 0.19 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1292171930 1p36.13 1 19771401A> C null F L 87 87 missense 0.413 benign 0.44 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC rs537512261 1p36.13 1 19771399G> A null A V 88 88 2.0E-4 missense 0.428 benign 0.57 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs138040605 1p36.13 1 19771395G> T null S R 89 89 missense 0.332 benign 0.05 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs770360478 1p36.13 1 19771394C> A null G C 90 90 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs770360478 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19771394C> T null G S 90 90 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs748456655 1p36.13 1 19771390A> G null L P 91 91 missense 0.975 probably damaging 0.12 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1447162247 1p36.13 1 19771384C> T null G D 93 93 missense 0.621 possibly damaging 0.05 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1043639969 1p36.13 1 19771385C> T null G S 93 93 missense 0.493 possibly damaging 0.27 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1162896054 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19771382C> T null E K 94 94 missense 0.113 benign 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs781545231 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19771378C> T null G E 95 95 missense 0.012 benign 0.07 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs1557599860 1p36.13 1 19771376C> T null A T 96 96 missense 0.003 benign 0.87 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs748959890 1p36.13 1 19771372T> A null D V 97 97 missense 0.733 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs560046245 1p36.13 1 19771369A> G null V A 98 98 3.99E-4 missense 0.007 benign 0.49 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs560046245 1p36.13 1 19771369A> C null V G 98 98 3.99E-4 missense 0.085 benign 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1177423097 1p36.13 1 19771370C> A null V L 98 98 missense 0.001 benign 0.23 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1177423097 1p36.13 1 19771370C> T null V M 98 98 missense 0.009 benign 0.3 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs747221376 1p36.13 1 19771366A> C null F C 99 99 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs911121271 1p36.13 1 19771365A> T null F L 99 99 missense 0.493 possibly damaging 0.08 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs780372357 1p36.13 1 19771364C> A null V F 100 100 missense 0.5 possibly damaging 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs985300049 1p36.13 1 19771360T> C null Q R 101 101 missense 0.274 benign 0.2 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs750537919 1p36.13 1 19771351A> G null L P 104 104 missense 0.851 possibly damaging 0.12 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs765025975 1p36.13 1 19771342G> C null P R 107 107 missense 0.621 possibly damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1237011125 1p36.13 1 19771340T> C null I V 108 108 missense 0.0 benign 0.73 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs757221489 1p36.13 1 19771337A> C null L V 109 109 missense 0.493 possibly damaging 0.13 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs753890174 1p36.13 1 19771331C> T null D N 111 111 missense 0.007 benign 0.4 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1372810964 1p36.13 1 19771330T> A null D V 111 111 missense 0.003 benign 0.19 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs753890174 1p36.13 1 19771331C> A null D Y 111 111 missense 0.382 benign 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs760591395 1p36.13 1 19771328C> T null D N 112 112 missense 0.007 benign 0.92 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs142352343 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19771324G> A null P L 113 113 missense 0.196 benign 0.19 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs758925169 1p36.13 1 19771321G> T null T K 114 114 missense 0.013 benign 0.84 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs758925169 1p36.13 1 19771321G> A null T M 114 114 missense 0.017 benign 0.17 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs756327165 1p36.13 1 19771313T> G null T P 117 117 missense 0.642 possibly damaging 0.08 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1262778553 1p36.13 1 19770567G> T null D E 119 119 missense 0.967 probably damaging 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs777092448 1p36.13 1 19770569C> T null D N 119 119 missense 0.984 probably damaging 0.03 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1365458584 1p36.13 1 19770553G> A null S L 124 124 missense 0.637 possibly damaging 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1231097896 1p36.13 1 19770554A> G null S P 124 124 missense 0.926 probably damaging 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1309082635 1p36.13 1 19770545C> T null D N 127 127 missense 0.012 benign 0.14 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1296186043 1p36.13 1 19770544T> A null D V 127 127 missense 0.642 possibly damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs754788119 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p36.13 1 19755764G> A null H Y 129 129 missense 0.003 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1461818655 1p36.13 1 19755759A> C null Y * 130 130 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147657902 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19755760T> C null Y C 130 130 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1205660198 1p36.13 1 19755761A> C null Y D 130 130 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74058627 1p36.13 1 19755754G> C null A G 132 132 0.003395 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs749948558 1p36.13 1 19755755C> G null A P 132 132 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs749948558 1p36.13 1 19755755C> A null A S 132 132 missense 0.999 probably damaging 0.24 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs749948558 1p36.13 1 19755755C> T null A T 132 132 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1439714967 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19755751C> T null R Q 133 133 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs751081167 1p36.13 1 19755752G> A null R W 133 133 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs767898445 1p36.13 1 19755739A> T null L H 137 137 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139821410 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19755737C> T null V I 138 138 missense 0.006 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1326482185 1p36.13 1 19755733C> A null C F 139 139 missense 0.915 probably damaging 0.42 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs145927782 1p36.13 1 19755728T> C null M V 141 141 missense 0.0 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1281854760 1p36.13 1 19755724G> T null T N 142 142 missense 0.007 benign 0.12 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs773432770 1p36.13 1 19755721G> A null S F 143 143 missense 0.867 possibly damaging 0.72 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144542419 1p36.13 1 19755716G> A null L F 145 145 0.002396 missense 0.16 benign 0.08 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs781041852 1p36.13 1 19755715A> T null L H 145 145 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1425928743 1p36.13 1 19755713G> A null Q * 146 146 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs746813593 1p36.13 1 19755709A> G null V A 147 147 missense 0.061 benign 0.07 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs746813593 1p36.13 1 19755709A> T null V E 147 147 missense 0.642 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs768246391 1p36.13 1 19755710C> T null V M 147 147 missense 0.087 benign 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs866931570 1p36.13 1 19755706G> A null P L 148 148 missense 0.836 possibly damaging 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs758049909 1p36.13 1 19755698C> T null E K 151 151 missense 0.948 probably damaging 0.13 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs750141218 1p36.13 1 19755692C> T null D N 153 153 missense 0.896 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs1557574607 1p36.13 1 19755685A> C null L R 155 155 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1270862130 1p36.13 1 19755683C> A null E * 156 156 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs756765917 1p36.13 1 19755657C> A null K N 164 164 missense 0.961 probably damaging 0.09 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs753213387 1p36.13 1 19755651G> C null I M 166 166 missense 0.264 benign 0.11 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs767938118 1p36.13 1 19755649T> C null K R 167 167 missense 0.003 benign 0.37 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs774873549 1p36.13 1 19755640T> C null E G 170 170 missense 0.23 benign 0.05 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs766643858 1p36.13 1 19755634T> G null E A 172 172 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs202018647 1p36.13 1 19747256C> G null A P 174 174 2.0E-4 missense 0.876 possibly damaging 0.07 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs202018647 1p36.13 1 19747256C> A null A S 174 174 2.0E-4 missense 0.496 possibly damaging 0.51 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs202018647 1p36.13 1 19747256C> T null A T 174 174 2.0E-4 missense 0.6 possibly damaging 0.18 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs775455299 1p36.13 1 19747253C> T null E K 175 175 missense 0.714 possibly damaging 0.36 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1433018792 1p36.13 1 19747250C> G null A P 176 176 missense 0.698 possibly damaging 0.16 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1400854390 1p36.13 1 19747247A> G null S P 177 177 missense 0.563 possibly damaging 0.13 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs369962324 1p36.13 1 19747244G> A null R * 178 178 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs745691405 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 1p36.13 1 19747243C> T null R Q 178 178 missense 0.975 probably damaging 0.05 tolerated 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1413679836 1p36.13 1 19747238T> C null K E 180 180 missense 0.359 benign 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146484072 1p36.13 1 19747226G> C null R G 184 184 0.005391 missense 0.011 benign 0.31 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs907707994 1p36.13 1 19747225C> T null R Q 184 184 missense 0.021 benign 0.35 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146484072 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 1p36.13 1 19747226G> A null R W 184 184 0.005391 missense 0.011 benign 0.1 tolerated 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1372448738 1p36.13 1 19747223T> C null R G 185 185 missense 0.229 benign 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1477225462 1p36.13 1 19747216C> A null W L 187 187 missense 0.979 probably damaging 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,gnomAD rs539279097 1p36.13 1 19747217A> G null W R 187 187 2.0E-4 missense 0.994 probably damaging 0.18 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs564460987 1p36.13 1 19747211G> A null R C 189 189 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150401450 1p36.13 1 19747210C> T null R H 189 189 5.99E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs1025440904 1p36.13 1 19747206A> T null Y * 190 190 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs140645448 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 1p36.13 1 19747207T> C null Y C 190 190 missense 0.04 benign 0.01 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs140645448 1p36.13 1 19747207T> A null Y F 190 190 missense 0.6 possibly damaging 0.17 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs750841213 1p36.13 1 19747204A> C null L R 191 191 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1352927078 1p36.13 1 19747201A> G null L P 192 192 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs144168723 1p36.13 1 19747189G> T null A E 196 196 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs761934478 1p36.13 1 19747190C> T null A T 196 196 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs144168723 1p36.13 1 19747189G> A null A V 196 196 2.0E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs775363242 1p36.13 1 19747184C> A null V F 198 198 missense 0.66 possibly damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs775363242 1p36.13 1 19747184C> T null V I 198 198 missense 0.05 benign 0.22 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs149198268 1p36.13 1 19747181C> T null G R 199 199 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs770828902 1p36.13 1 19747175C> T null G R 201 201 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146596460 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19747171G> A null T M 202 202 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs748882230 1p36.13 1 19747172T> G null T P 202 202 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1385388053 1p36.13 1 19747166T> C null I V 204 204 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs180847584 1p36.13 1 19747163C> T null G S 205 205 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs776287330 1p36.13 1 19746596A> T null V E 206 206 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs746354265 1p36.13 1 19746594T> C null T A 207 207 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs564158963 1p36.13 1 19746587C> G null G A 209 209 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1159376031 1p36.13 1 19746584A> G null L P 210 210 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1456322271 1p36.13 1 19746582C> T null A T 211 211 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs749681130 1p36.13 1 19746579C> G null A P 212 212 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs749681130 1p36.13 1 19746579C> T null A T 212 212 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs777797495 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19746578G> A null A V 212 212 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs150803752 1p36.13 1 19746575G> T null P H 213 213 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs1031689341 1p36.13 1 19746572A> G null L P 214 214 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1243986939 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19746569A> G null V A 215 215 missense 0.435 benign 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1487551044 1p36.13 1 19746570C> T null V I 215 215 missense 0.024 benign 0.21 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147179821 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 1p36.13 1 19746564C> A null A S 217 217 missense 0.998 probably damaging 0.03 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs147179821 1p36.13 1 19746564C> T null A T 217 217 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs201994917 1p36.13 1 19746560C> A null G V 218 218 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1323930181 1p36.13 1 19746557G> A null A V 219 219 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1300520021 1p36.13 1 19746554G> A null A V 220 220 missense 0.788 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138387559 1p36.13 1 19746551G> A null T M 221 221 5.99E-4 missense 0.752 possibly damaging 0.11 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1433680508 1p36.13 1 19746546T> C null I V 223 223 missense 0.28 benign 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs761554657 cosmic curated [Cosmic]: lung cosmic_study:583 1p36.13 1 19746542C> A null G V 224 224 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs560034561 1p36.13 1 19746538G> C null S R 225 225 2.0E-4 missense 0.943 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1007679401 1p36.13 1 19746537C> A null A S 226 226 missense 0.688 possibly damaging 0.12 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1007679401 1p36.13 1 19746537C> T null A T 226 226 missense 0.154 benign 0.1 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs774671135 1p36.13 1 19746533C> T null G E 227 227 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150275227 1p36.13 1 19746534C> T null G R 227 227 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs559661206 1p36.13 1 19746527G> T null A E 229 229 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC rs771478618 1p36.13 1 19746528C> A null A S 229 229 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs559661206 1p36.13 1 19746527G> A null A V 229 229 2.0E-4 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1328945809 1p36.13 1 19746521A> C null L R 231 231 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs6675529 1p36.13 1 19746513C> T null A T 234 234 missense 0.0 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1255260150 1p36.13 1 19746506C> T null G D 236 236 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs755015270 1p36.13 1 19746507C> T null G S 236 236 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs374202120 1p36.13 1 19746504T> C null I V 237 237 missense 0.978 probably damaging 0.2 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs779799250 1p36.13 1 19746500G> C null A G 238 238 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1309234426 1p36.13 1 19746501C> T null A T 238 238 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs779799250 1p36.13 1 19746500G> A null A V 238 238 missense 0.997 probably damaging 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs1036713222 1p36.13 1 19746498T> C null I V 239 239 missense 0.001 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs760201847 1p36.13 1 19746493C> A null M I 240 240 missense 0.015 benign 0.53 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs370284039 1p36.13 1 19746495T> C null M V 240 240 missense 0.025 benign 0.2 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs750396399 1p36.13 1 19746488G> A null S L 242 242 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1401039094 1p36.13 1 19746483A> G null F L 244 244 missense 0.961 probably damaging 0.05 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1426334462 1p36.13 1 19746479C> T null G D 245 245 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs761738729 1p36.13 1 19746474C> A null A S 247 247 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1482062628 1p36.13 1 19745651C> T null G E 253 253 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs763861687 1p36.13 1 19746456C> T null G R 253 253 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed rs776752014 1p36.13 1 19745647_19745648insC C null Y * 254 254 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1293817835 1p36.13 1 19745648T> C null Y C 254 254 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed rs760367934 1p36.13 1 19745640T> A null K * 257 257 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs1204931289 1p36.13 1 19745636T> C null K R 258 258 missense 0.979 probably damaging 0.07 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140939906 1p36.13 1 19745634G> A null R * 259 259 2.0E-4 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs767299062 1p36.13 1 19745633C> T null R Q 259 259 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs958999877 1p36.13 1 19745630A> G null V A 260 260 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1382470001 1p36.13 1 19745627C> T null G E 261 261 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs773673291 1p36.13 1 19745620A> C null I M 263 263 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs148406938 1p36.13 1 19745615T> C null E G 265 265 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs375943260 1p36.13 1 19745609G> A null T M 267 267 missense 0.023 benign 0.18 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs570405680 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 1p36.13 1 19745594G> A null T M 272 272 2.0E-4 missense 0.855 possibly damaging 0.0 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35760408 1p36.13 1 19745589C> T null G S 274 274 0.03135 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs1557554553 1p36.13 1 19745568T> C null I V 281 281 missense 0.003 benign 0.12 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144288160 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 1p36.13 1 19745565C> T null A T 282 282 2.0E-4 missense 0.992 probably damaging 0.04 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs749302097 1p36.13 1 19745562C> A null V F 283 283 missense 0.36 benign 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs749302097 1p36.13 1 19745562C> T null V I 283 283 missense 0.003 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs777608126 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1p36.13 1 19745558G> A null T M 284 284 missense 0.855 possibly damaging 0.0 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs752365470 1p36.13 1 19745556C> T null G R 285 285 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1206367534 1p36.13 1 19745551C> A null W C 286 286 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs754466348 1p36.13 1 19745549A> G null L P 287 287 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1036421756 1p36.13 1 19745547C> T null A T 288 288 missense 0.242 benign 0.51 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs868793515 1p36.13 1 19745540C> T null G D 290 290 missense 0.998 probably damaging 0.43 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs199727655 1p36.13 1 19745532G> A null R C 293 293 missense 0.995 probably damaging 0.06 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs886272538 1p36.13 1 19740938G> C null T S 294 294 missense 0.979 probably damaging 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371982006 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19740926G> A null P L 298 298 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1166222861 1p36.13 1 19740921C> A null A S 300 300 missense 0.085 benign 0.89 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs201546560 1p36.13 1 19740908T> G null H P 304 304 missense 0.132 benign 0.21 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs201546560 1p36.13 1 19740908T> C null H R 304 304 missense 0.0 benign 0.82 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1236155382 1p36.13 1 19740906T> A null S C 305 305 missense 0.994 probably damaging 0.15 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs190864802 1p36.13 1 19740903G> A null R C 306 306 0.001597 missense 0.003 benign 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185897921 1p36.13 1 19740902C> T null R H 306 306 missense 0.503 possibly damaging 0.05 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185897921 1p36.13 1 19740902C> A null R L 306 306 missense 0.148 benign 0.03 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs969315481 1p36.13 1 19740890C> G null C S 310 310 missense 0.974 probably damaging 0.12 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs969315481 1p36.13 1 19740890C> T null C Y 310 310 missense 0.992 probably damaging 0.12 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,gnomAD rs374699068 1p36.13 1 19740885C> T null A T 312 312 missense 0.991 probably damaging 0.22 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs766731725 1p36.13 1 19740875G> A null A V 315 315 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs774075903 1p36.13 1 19740872T> C null K R 316 316 missense 0.979 probably damaging 0.22 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs763033284 1p36.13 1 19740869T> A null Y F 317 317 missense 0.979 probably damaging 0.1 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1415795059 1p36.13 1 19740866A> G null L P 318 318 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs773170978 1p36.13 1 19740864T> C null M V 319 319 missense 0.65 possibly damaging 0.25 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1290039145 1p36.13 1 19740858G> A null L F 321 321 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs761646239 1p36.13 1 19740855C> T null G S 322 322 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs776682791 1p36.13 1 19740851T> C null N S 323 323 missense 0.979 probably damaging 0.29 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs200382230 1p36.13 1 19740843C> A null E * 326 326 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1349889122 1p36.13 1 19740842T> C null E G 326 326 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs746825751 1p36.13 1 19740839G> A null T I 327 327 missense 0.994 probably damaging 0.1 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144190656 1p36.13 1 19740827C> T null G D 331 331 5.99E-4 missense 0.998 probably damaging 0.18 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs771712993 1p36.13 1 19740825G> C null L V 332 332 missense 0.979 probably damaging 0.16 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs778273104 1p36.13 1 19740822C> A null A S 333 333 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs778273104 1p36.13 1 19740822C> T null A T 333 333 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs756840464 1p36.13 1 19740816T> C null M V 335 335 missense 0.009 benign 0.28 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs781771981 1p36.13 1 19740810C> T null A T 337 337 missense 0.991 probably damaging 0.17 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs1008239215 1p36.13 1 19740809G> A null A V 337 337 missense 0.987 probably damaging 0.15 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1220908579 1p36.13 1 19740807G> A null Q * 338 338 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1220908579 1p36.13 1 19740807G> T null Q K 338 338 missense 0.915 probably damaging 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,TOPMed,gnomAD rs147635887 1p36.13 1 19740806T> C null Q R 338 338 2.0E-4 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs755347539 1p36.13 1 19740802C> G null E D 339 339 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1270209247 1p36.13 1 19740801C> T null A T 340 340 missense 0.991 probably damaging 0.19 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs751988022 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19740800G> A null A V 340 340 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs763081677 1p36.13 1 19740798G> C null L V 341 341 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1220946621 1p36.13 1 19740791T> A null Y F 343 343 missense 0.979 probably damaging 0.27 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs200687060 1p36.13 1 19740789T> C null T A 344 344 3.99E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1433635844 1p36.13 1 19740785A> C null V G 345 345 missense 0.337 benign 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs776513878 1p36.13 1 19740786C> T null V M 345 345 missense 0.914 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs746269000 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:24241536,cosmic_study:571 1p36.13 1 19739960C> T null G D 348 348 missense 0.998 probably damaging 0.0 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs775258399 1p36.13 1 19740777C> T null G S 348 348 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs746269000 1p36.13 1 19739960C> A null G V 348 348 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,gnomAD rs564170029 1p36.13 1 19739957A> G null I T 349 349 2.0E-4 missense 0.6 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs145282048 1p36.13 1 19739958T> C null I V 349 349 missense 0.131 benign 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,gnomAD rs552239386 1p36.13 1 19739955C> A null V L 350 350 2.0E-4 missense 0.164 benign 0.25 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs777803610 1p36.13 1 19739948G> T null A D 352 352 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs777803610 1p36.13 1 19739948G> C null A G 352 352 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs777803610 1p36.13 1 19739948G> A null A V 352 352 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs909502079 1p36.13 1 19739940A> G null W R 355 355 missense 0.549 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1380268902 1p36.13 1 19739937G> A null P S 356 356 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1302632095 1p36.13 1 19739930G> A null S L 358 358 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1371575843 1p36.13 1 19739915G> C null A G 363 363 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs759192879 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19739916C> T null A T 363 363 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1371575843 1p36.13 1 19739915G> A null A V 363 363 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs59966976 1p36.13 1 19739912T> C null N S 364 364 0.005391 missense 0.015 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs944173905 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1p36.13 1 19739907T> C null I V 366 366 missense 0.811 possibly damaging 0.0 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl,NCI-TCGA rs575894699 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19739904C> T null D N 367 367 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,NCI-TCGA,gnomAD rs145902797 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19739897G> A null P L 369 369 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,gnomAD rs145902797 1p36.13 1 19739897G> C null P R 369 369 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs769401993 1p36.13 1 19739894C> A null W L 370 370 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1484021886 1p36.13 1 19739891C> T null G E 371 371 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1484021886 1p36.13 1 19739891C> A null G V 371 371 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs772635020 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19739888A> C null V G 372 372 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs775815849 1p36.13 1 19739889C> A null V L 372 372 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs775815849 1p36.13 1 19739889C> T null V M 372 372 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1203572396 1p36.13 1 19739883G> A null L F 374 374 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs374658138 1p36.13 1 19739878A> T null H Q 375 375 missense 0.124 benign 0.27 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs779319006 1p36.13 1 19739879T> C null H R 375 375 missense 0.003 benign 0.64 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1348030164 1p36.13 1 19739880G> A null H Y 375 375 missense 0.359 benign 0.08 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs778002131 1p36.13 1 19739877G> A null R * 376 376 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs574581882 1p36.13 1 19739876C> G null R P 376 376 3.99E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs574581882 1p36.13 1 19739876C> T null R Q 376 376 3.99E-4 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1352900222 1p36.13 1 19739865C> T null V I 380 380 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1271224592 1p36.13 1 19739861C> T null G D 381 381 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs1035491299 1p36.13 1 19739862C> T null G S 381 381 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1309114800 1p36.13 1 19739858T> A null K M 382 382 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs754941185 1p36.13 1 19739850C> A null A S 385 385 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs754941185 1p36.13 1 19739850C> T null A T 385 385 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs751509507 1p36.13 1 19739849G> A null A V 385 385 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs766175122 1p36.13 1 19739847G> A null H Y 386 386 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1368087904 1p36.13 1 19739844T> C null I V 387 387 missense 0.003 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs776197717 1p36.13 1 19739831C> T null R Q 391 391 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs150663799 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19739832G> A null R W 391 391 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs199714913 1p36.13 1 19739828T> G null Q P 392 392 5.99E-4 missense 0.964 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs577785858 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:376 1p36.13 1 19737453G> A null R * 395 395 missense 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs371873831 1p36.13 1 19737452C> T null R Q 395 395 missense 0.007 benign 0.39 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs528355596 1p36.13 1 19737450G> A null R * 396 396 2.0E-4 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs763625173 1p36.13 1 19737449C> T null R Q 396 396 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs879799426 1p36.13 1 19737446G> A null P L 397 397 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35274017 1p36.13 1 19737443A> G null V A 398 398 0.01318 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1437624206 1p36.13 1 19737437A> G null L S 400 400 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs763234978 1p36.13 1 19737438A> C null L V 400 400 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs773563049 1p36.13 1 19737431C> G null G A 402 402 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs773563049 1p36.13 1 19737431C> T null G D 402 402 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs112349826 1p36.13 1 19737426T> C null S G 404 404 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs879106611 1p36.13 1 19737425C> A null S I 404 404 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs879106611 1p36.13 1 19737425C> G null S T 404 404 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs905500654 1p36.13 1 19737417C> T null A T 407 407 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs776759260 1p36.13 1 19737407A> G null I T 410 410 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs748380379 1p36.13 1 19737408T> C null I V 410 410 missense 0.811 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs201036489 1p36.13 1 19737403G> T null Y * 411 411 2.0E-4 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs768744935 1p36.13 1 19737404T> C null Y C 411 411 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1392793025 1p36.13 1 19737400G> T null F L 412 412 missense 0.961 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs780084921 1p36.13 1 19737398C> T null C Y 413 413 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs758417267 1p36.13 1 19737395A> G null L P 414 414 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs990054598 1p36.13 1 19737393G> A null Q * 415 415 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs745856465 1p36.13 1 19737391C> A null Q H 415 415 missense 0.003 benign 0.05 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1281356798 1p36.13 1 19737390C> T null E K 416 416 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1201601641 1p36.13 1 19737389T> A null E V 416 416 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs778826078 1p36.13 1 19737384C> A null A S 418 418 missense 0.987 probably damaging 0.34 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1230660196 1p36.13 1 19737380T> A null Q L 419 419 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs757038035 1p36.13 1 19737378C> T null E K 420 420 missense 0.979 probably damaging 0.05 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs762184488 1p36.13 1 19700885T> C null D G 422 422 missense 0.005 benign 0.57 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs764589836 1p36.13 1 19700882C> A null C F 423 423 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs369918514 1p36.13 1 19700880G> A null Q * 424 424 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1290138982 1p36.13 1 19700874T> C null I V 426 426 missense 0.001 benign 0.16 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1042645957 1p36.13 1 19700871T> A null I F 427 427 missense 0.491 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs200574088 1p36.13 1 19700869G> C null I M 427 427 missense 0.73 possibly damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1372503555 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19700868C> T null E K 428 428 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs772233690 1p36.13 1 19700865C> G null D H 429 429 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs147553466 1p36.13 1 19700862C> T null V I 430 430 missense 0.952 probably damaging 0.08 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC rs770778917 1p36.13 1 19700859T> C null I V 431 431 missense 0.0 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs140356141 1p36.13 1 19700849C> T null G D 434 434 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs749312953 1p36.13 1 19700850C> G null G R 434 434 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs140356141 1p36.13 1 19700849C> A null G V 434 434 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs148753333 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19700846G> A null A V 435 435 missense 0.208 benign 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1420254867 1p36.13 1 19700844G> C null P A 436 436 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1420254867 1p36.13 1 19700844G> A null P S 436 436 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1468651537 1p36.13 1 19700841C> T null V M 437 437 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP rs375199725 1p36.13 1 19700835C> T null G R 439 439 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1274740362 1p36.13 1 19700832C> T null E K 440 440 missense 0.053 benign 0.45 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1479019018 1p36.13 1 19700829C> A null A S 441 441 missense 0.218 benign 0.27 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1253878904 1p36.13 1 19700826T> C null K E 442 442 missense 0.979 probably damaging 0.19 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs754437311 1p36.13 1 19700825T> C null K R 442 442 missense 0.979 probably damaging 0.08 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 NCI-TCGA,gnomAD rs778190089 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1p36.13 1 19700822T> C null H R 443 443 missense 0.215 benign 0.2 tolerated 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs374441744 1p36.13 1 19700814G> C null P A 446 446 missense 0.991 probably damaging 0.44 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs761149984 cosmic curated [Cosmic]: oesophagus cosmic_study:582 1p36.13 1 19700807C> T null R Q 448 448 missense 0.975 probably damaging 0.58 tolerated 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144254063 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19700808G> A null R W 448 448 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs554202425 1p36.13 1 19700804T> G null K T 449 449 2.0E-4 missense 0.23 benign 0.11 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs535945007 1p36.13 1 19700802C> A null V L 450 450 5.99E-4 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs535945007 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 1p36.13 1 19700802C> T null V M 450 450 5.99E-4 missense 0.994 probably damaging 0.0 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1366885074 1p36.13 1 19700799C> A null V L 451 451 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs769438240 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:24241536,cosmic_study:571 1p36.13 1 19700792C> T null G E 453 453 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs186441685 1p36.13 1 19700793C> T null G R 453 453 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs747960153 1p36.13 1 19700789C> G null R T 454 454 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1395837885 1p36.13 1 19700790T> A null R W 454 454 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs776212390 1p36.13 1 19700783A> G null I T 456 456 missense 0.079 benign 0.1 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1471453826 1p36.13 1 19700781T> C null N D 457 457 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs201810750 1p36.13 1 19700778C> A null G C 458 458 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs201810750 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 1p36.13 1 19700778C> T null G S 458 458 3.99E-4 missense 0.997 probably damaging 0.0 deleterious 1 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199915761 1p36.13 1 19700775A> G null Y H 459 459 5.99E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,gnomAD rs377295316 1p36.13 1 19694545G> T null D E 463 463 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs778074463 1p36.13 1 19694543C> T null W * 464 464 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1356684545 1p36.13 1 19694541G> T null L M 465 465 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1312744259 1p36.13 1 19694538G> C null L V 466 466 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs199977255 1p36.13 1 19694529C> G null V L 469 469 missense 0.972 probably damaging 0.84 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs199977255 1p36.13 1 19694529C> T null V M 469 469 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs906803569 1p36.13 1 19694525T> C null Y C 470 470 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs906803569 1p36.13 1 19694525T> G null Y S 470 470 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs145888681 1p36.13 1 19694523G> A null R C 471 471 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1326666975 1p36.13 1 19694522C> T null R H 471 471 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs751691893 1p36.13 1 19694519G> A null T I 472 472 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367840733 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19694513G> A null S L 474 474 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1473528792 1p36.13 1 19694508G> A null Q * 476 476 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs765370599 1p36.13 1 19694506C> G null Q H 476 476 missense 0.989 probably damaging 0.09 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs761729038 1p36.13 1 19694504A> T null L H 477 477 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs761729038 1p36.13 1 19694504A> C null L R 477 477 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1010188927 1p36.13 1 19694502G> A null R C 478 478 missense 0.736 possibly damaging 0.05 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs386629247 1p36.13 1 19694500_19694501in v null R H 478 478 missense 0.007 benign 0.18 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4515815 pubmed:15489334,pubmed:17974005 1p36.13 1 19694501C> T null R H 478 478 0.4301 missense 0.007 benign 0.18 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC rs760537609 1p36.13 1 19694499C> T null V I 479 479 missense 0.949 probably damaging 0.54 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs771756912 1p36.13 1 19694496C> T null A T 480 480 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1041070392 1p36.13 1 19694492C> T null G D 481 481 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75727159 1p36.13 1 19694493C> T null G S 481 481 0.01158 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs748633593 1p36.13 1 19694487G> A null Q * 483 483 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1295444659 1p36.13 1 19694486T> C null Q R 483 483 missense 0.946 probably damaging 0.18 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs769093402 1p36.13 1 19694481C> T null V M 485 485 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs780075214 1p36.13 1 19694471T> C null Q R 488 488 missense 0.199 benign 0.39 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs750672602 1p36.13 1 19694465C> T null R K 490 490 missense 0.937 probably damaging 0.26 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1373912322 1p36.13 1 19694462C> A null R M 491 491 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1192555510 1p36.13 1 19694459A> G null V A 492 492 missense 0.054 benign 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs757126402 1p36.13 1 19694460C> T null V M 492 492 missense 0.013 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1193951506 1p36.13 1 19694455C> G null E D 493 493 missense 0.979 probably damaging 0.2 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs752530872 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19694438G> C null S C 499 499 missense 0.639 possibly damaging 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs371583079 1p36.13 1 19694435A> G null V A 500 500 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs932150151 1p36.13 1 19683444C> T null V I 501 501 missense 0.006 benign 0.17 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs372922052 1p36.13 1 19683438C> T null G S 503 503 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1340298631 1p36.13 1 19683427G> T null D E 506 506 missense 0.987 probably damaging 0.1 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs772445700 1p36.13 1 19683426A> C null Y D 507 507 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1224919790 1p36.13 1 19683423C> T null A T 508 508 missense 0.691 possibly damaging 0.34 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1222048929 1p36.13 1 19683420T> C null K E 509 509 missense 0.979 probably damaging 0.14 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs901970917 1p36.13 1 19683415C> G null Q H 510 510 missense 0.568 possibly damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1405767092 1p36.13 1 19683412C> T null M I 511 511 missense 0.961 probably damaging 0.23 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1279106733 1p36.13 1 19683413A> T null M K 511 511 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1357309422 1p36.13 1 19683410T> A null D V 512 512 missense 0.999 probably damaging 0.05 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs746240803 1p36.13 1 19683407G> T null A D 513 513 missense 0.0 benign 0.41 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs771136172 1p36.13 1 19683404A> T null I N 514 514 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs771136172 1p36.13 1 19683404A> C null I S 514 514 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs756187965 1p36.13 1 19683398T> C null K R 516 516 missense 0.005 benign 0.18 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1301529186 1p36.13 1 19683396C> G null A P 517 517 missense 0.571 possibly damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs748078179 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19683395G> A null A V 517 517 missense 0.006 benign 0.13 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs754745907 1p36.13 1 19683393C> A null V L 518 518 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs754745907 1p36.13 1 19683393C> T null V M 518 518 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs751405780 1p36.13 1 19683390C> T null G S 519 519 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1189354670 1p36.13 1 19683386A> G null I T 520 520 missense 0.178 benign 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs766346118 1p36.13 1 19683384G> A null R C 521 521 missense 0.528 possibly damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs766346118 1p36.13 1 19683384G> C null R G 521 521 missense 0.065 benign 0.11 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1255560694 1p36.13 1 19683383C> T null R H 521 521 missense 0.003 benign 0.14 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs758112231 1p36.13 1 19683380G> T null T N 522 522 missense 0.924 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,TOPMed,gnomAD rs545765605 1p36.13 1 19683374G> A null P L 524 524 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs750152248 1p36.13 1 19683371C> T null G D 525 525 missense 0.801 possibly damaging 0.36 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs750152248 1p36.13 1 19683371C> A null G V 525 525 missense 0.894 possibly damaging 0.12 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1232661882 1p36.13 1 19683367C> T null W * 526 526 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs764777014 1p36.13 1 19683368C> T null W * 526 526 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1336585357 1p36.13 1 19683369A> G null W R 526 526 missense 0.006 benign 0.41 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200604678 1p36.13 1 19683364G> T null D E 527 527 7.99E-4 missense 0.0 benign 0.46 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC rs761265672 1p36.13 1 19683366C> A null D Y 527 527 missense 0.346 benign 0.0 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs374194395 1p36.13 1 19683363C> T null E K 528 528 missense 0.009 benign 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs148804412 1p36.13 1 19683356C> T null G E 530 530 missense 0.999 probably damaging 0.22 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ExAC rs559890694 1p36.13 1 19683357C> G null G R 530 530 2.0E-4 missense 0.999 probably damaging 0.13 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs958518198 1p36.13 1 19683351A> C null L V 532 532 missense 0.215 benign 0.23 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs776401933 1p36.13 1 19683348G> C null L V 533 533 missense 0.269 benign 0.03 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116650784 1p36.13 1 19683344G> T null A D 534 534 0.02296 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116650784 1p36.13 1 19683344G> C null A G 534 534 0.02296 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1166080697 1p36.13 1 19683338C> G null G A 536 536 missense 0.996 probably damaging 0.69 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs922196530 1p36.13 1 19683339C> T null G S 536 536 missense 0.997 probably damaging 0.85 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1461419116 1p36.13 1 19683335C> T null C Y 537 537 missense 0.122 benign 0.03 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs943688187 1p36.13 1 19683330G> A null P S 539 539 missense 0.003 benign 0.29 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs138277488 1p36.13 1 19683324C> T null E K 541 541 missense 0.173 benign 0.11 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs746838426 1p36.13 1 19683320T> A null E V 542 542 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1438799193 1p36.13 1 19683318G> C null P A 543 543 missense 0.09 benign 0.08 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs758312088 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.13 1 19683315G> A null R C 544 544 missense 0.0 benign 0.04 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs951198832 1p36.13 1 19683314C> T null R H 544 544 missense 0.0 benign 0.27 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1212807076 1p36.13 1 19683310C> G null Q H 545 545 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1429226726 1p36.13 1 19683306C> T null A T 547 547 missense 0.003 benign 0.3 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1223858600 1p36.13 1 19683302G> T null A D 548 548 missense 0.225 benign 0.36 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs764824776 1p36.13 1 19683303C> A null A S 548 548 missense 0.055 benign 0.48 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs764824776 1p36.13 1 19683303C> T null A T 548 548 missense 0.003 benign 0.44 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1372067992 1p36.13 1 19683300C> A null A S 549 549 missense 0.0 benign 0.58 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41312012 1p36.13 1 19683297C> A null A S 550 550 0.005591 missense 0.0 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41312012 1p36.13 1 19683297C> T null A T 550 550 0.005591 missense 0.0 benign 0.24 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,gnomAD rs752099948 1p36.13 1 19683288C> T null A T 553 553 missense 0.001 benign 0.56 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1157696492 1p36.13 1 19682699C> T null C Y 558 558 missense 0.059 benign 1.0 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1254440041 1p36.13 1 19682688C> T null G S 562 562 missense 0.003 benign 0.88 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1199833748 1p36.13 1 19682684G> A null P L 563 563 missense 0.0 benign 0.3 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1208644679 1p36.13 1 19682682C> T null E K 564 564 missense 0.0 benign 0.74 tolerated 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1239464619 1p36.13 1 19682670C> G null G R 568 568 missense 0.0 benign 0.61 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1239464619 1p36.13 1 19682670C> T null G R 568 568 missense 0.0 benign 0.61 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1305826046 1p36.13 1 19682667G> A null P S 569 569 missense 0.031 benign 0.78 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs754263310 1p36.13 1 19682661C> T null A T 571 571 missense 0.001 benign 0.67 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 ExAC,TOPMed,gnomAD rs764624118 1p36.13 1 19682655T> C null T A 573 573 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs751800113 1p36.13 1 19682643G> A null P S 577 577 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1384833539 1p36.13 1 19682629_19682638de l null W * 578 578 stop lost 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 Ensembl rs1553121688 1p36.13 1 19682638_19682639insTC T null W * 578 578 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed rs1019034273 1p36.13 1 19682638C> A null W C 578 578 missense 0.226 benign 0.1 tolerated - low confidence 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 TOPMed,gnomAD rs1287806712 1p36.13 1 19682634G> A null Q * 580 580 stop gained 0 A0A075B6H3 TMCO4 Transmembrane and coiled-coil domain-containing protein 4 gnomAD rs1417260362 1p36.13 1 19682633T> C null Q R 580 580 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1555801585 20p11.23 20 18142664G> A null D N 2 2 missense 0.095 benign 0.02 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs771604234 20p11.23 20 18142667A> G null S G 3 3 missense 0.055 benign 0.23 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1568662136 20p11.23 20 18142673A> C null I L 5 5 missense 0.0 benign 0.36 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1454931502 20p11.23 20 18142677A> T null H L 6 6 missense 0.009 benign 0.09 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1241217824 20p11.23 20 18142682A> C null S R 8 8 missense 0.0 benign 0.14 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1189135809 20p11.23 20 18142689T> C null L P 10 10 missense 0.776 possibly damaging 0.07 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1249724655 20p11.23 20 18142694A> G null S G 12 12 missense 0.099 benign 0.14 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs776626826 20p11.23 20 18142698G> A null R Q 13 13 missense 0.663 possibly damaging 0.13 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,gnomAD rs542377533 20p11.23 20 18142697C> T null R W 13 13 2.0E-4 missense 0.799 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs377600919 20p11.23 20 18142701A> T null H L 14 14 missense 0.003 benign 0.22 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs377600919 20p11.23 20 18142701A> G null H R 14 14 missense 0.0 benign 0.43 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1568662163 20p11.23 20 18142700C> T null H Y 14 14 missense 0.037 benign 0.27 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1423121839 20p11.23 20 18142707A> C null D A 16 16 missense 0.558 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1318419516 20p11.23 20 18142706G> A null D N 16 16 missense 0.71 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,gnomAD rs762084114 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18142709G> A null E K 17 17 missense 0.197 benign 0.02 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370934662 20p11.23 20 18142716C> T null T M 19 19 2.0E-4 missense 0.013 benign 0.29 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs368748280 20p11.23 20 18142725C> T null S L 22 22 missense 0.044 benign 0.01 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1345913659 20p11.23 20 18142734A> G null E G 25 25 missense 0.161 benign 0.01 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1219496895 20p11.23 20 18142737G> A null G E 26 26 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,gnomAD rs765598660 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18142767C> T null T M 36 36 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs746588449 20p11.23 20 18142778G> A null V I 40 40 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,gnomAD rs781003411 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18142781G> A null E K 41 41 missense 0.988 probably damaging 0.01 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1266684169 20p11.23 20 18142788A> G null E G 43 43 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,gnomAD rs201768810 20p11.23 20 18142787G> A null E K 43 43 2.0E-4 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs775461065 20p11.23 20 18142792T> A null D E 44 44 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs749066519 20p11.23 20 18142794A> T null Q L 45 45 missense 0.946 probably damaging 0.0 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs749066519 20p11.23 20 18142794A> G null Q R 45 45 missense 0.946 probably damaging 0.01 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1438950475 20p11.23 20 18142797C> G null A G 46 46 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1568662223 20p11.23 20 18142796G> C null A P 46 46 missense 0.347 benign 0.02 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs772493399 20p11.23 20 18142799T> A null S T 47 47 missense 0.961 probably damaging 0.03 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1391568121 20p11.23 20 18142810A> C null L F 50 50 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,gnomAD rs760685954 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18142812C> T null S L 51 51 missense 0.975 probably damaging 0.01 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs773504576 20p11.23 20 18142811T> C null S P 51 51 missense 0.981 probably damaging 0.13 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs572036161 20p11.23 20 18142819C> G null D E 53 53 missense 0.203 benign 0.02 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,gnomAD rs760131098 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18142817G> A null D N 53 53 missense 0.919 probably damaging 0.03 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs760131098 20p11.23 20 18142817G> T null D Y 53 53 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1219855747 20p11.23 20 18142832T> G null S A 58 58 missense 0.909 probably damaging 0.08 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs200687917 20p11.23 20 18142856G> A null V M 66 66 2.0E-4 missense 0.557 possibly damaging 0.08 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1469118133 20p11.23 20 18142863G> A null W * 68 68 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1379502565 20p11.23 20 18142862T> C null W R 68 68 missense 0.994 probably damaging 0.02 deleterious - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1030296583 20p11.23 20 18142876G> T null Q H 72 72 missense 0.861 possibly damaging 0.25 tolerated - low confidence 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1158486164 20p11.23 20 18142884A> C null Y S 75 75 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs954745839 20p11.23 20 18142895A> C null K Q 79 79 missense 0.844 possibly damaging 0.25 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC rs756122127 20p11.23 20 18142896A> C null K T 79 79 missense 0.851 possibly damaging 0.14 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC rs780123577 20p11.23 20 18142898T> G null C G 80 80 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs749104372 20p11.23 20 18142900C> G null C W 80 80 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs747217959 20p11.23 20 18142903A> C null Q H 81 81 missense 0.028 benign 0.81 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs75839727 20p11.23 20 18142901C> A null Q K 81 81 missense 0.546 possibly damaging 0.94 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs778165809 20p11.23 20 18142902A> G null Q R 81 81 missense 0.546 possibly damaging 0.35 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs771028770 20p11.23 20 18142905A> G null K R 82 82 missense 0.979 probably damaging 0.22 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs776821624 20p11.23 20 18142907T> G null W G 83 83 missense 0.86 possibly damaging 0.12 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs759522652 20p11.23 20 18142911T> C null I T 84 84 missense 0.099 benign 0.14 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1049929323 20p11.23 20 18142910A> G null I V 84 84 missense 0.046 benign 0.44 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs775908942 20p11.23 20 18142917C> G null A G 86 86 missense 0.775 possibly damaging 0.39 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,TOPMed rs150368810 20p11.23 20 18142916G> A null A T 86 86 missense 0.775 possibly damaging 0.48 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs766534925 20p11.23 20 18142919A> G null S G 87 87 missense 0.007 benign 0.3 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1278612378 20p11.23 20 18145234T> G null S R 87 87 missense 0.498 possibly damaging 0.22 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1009023146 20p11.23 20 18145244G> A null E K 91 91 missense 0.717 possibly damaging 0.28 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1450437949 20p11.23 20 18145247C> G null Q E 92 92 missense 0.878 possibly damaging 0.43 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs767264392 20p11.23 20 18145250C> T null L F 93 93 missense 0.905 possibly damaging 0.13 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs767264392 20p11.23 20 18145250C> G null L V 93 93 missense 0.73 possibly damaging 0.45 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs201940609 20p11.23 20 18145253A> G null S G 94 94 2.0E-4 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1325430150 20p11.23 20 18145259C> T null L F 96 96 missense 0.943 probably damaging 0.04 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1325430150 20p11.23 20 18145259C> G null L V 96 96 missense 0.716 possibly damaging 0.07 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,gnomAD rs200978179 20p11.23 20 18145262A> G null K E 97 97 2.0E-4 missense 0.717 possibly damaging 0.32 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs753371328 20p11.23 20 18145269A> G null D G 99 99 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs755016116 20p11.23 20 18145278T> A null F Y 102 102 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs200083646 20p11.23 20 18145282G> T null R S 103 103 3.99E-4 missense 0.085 benign 0.23 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs778983221 20p11.23 20 18145281G> C null R T 103 103 missense 0.116 benign 0.12 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs781487898 20p11.23 20 18145286A> G null T A 105 105 missense 0.154 benign 0.73 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs137920496 20p11.23 20 18145293C> T null S L 107 107 missense 0.038 benign 0.17 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1416136238 20p11.23 20 18145296A> G null D G 108 108 missense 0.57 possibly damaging 0.13 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1428070257 20p11.23 20 18145299G> A null C Y 109 109 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs780144728 20p11.23 20 18145302C> T null S L 110 110 missense 0.647 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1167744460 20p11.23 20 18145308A> G null D G 112 112 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1449022477 20p11.23 20 18145317A> C null E A 115 115 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1391095072 20p11.23 20 18145318G> C null E D 115 115 missense 0.979 probably damaging 0.08 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs749344174 20p11.23 20 18145320A> G null Q R 116 116 missense 0.443 benign 0.5 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs769206483 20p11.23 20 18145323A> G null Y C 117 117 missense 0.003 benign 0.27 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs774713751 20p11.23 20 18145331C> A null L M 120 120 missense 0.224 benign 0.92 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs748562424 20p11.23 20 18145335A> G null K R 121 121 missense 0.001 benign 0.88 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs369514600 20p11.23 20 18145338T> C null L P 122 122 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs764600810 20p11.23 20 18150824G> A null V I 128 128 missense 0.229 benign 0.23 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1316734378 20p11.23 20 18150831T> C null L S 130 130 missense 0.626 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1247314899 20p11.23 20 18150834C> T null A V 131 131 missense 0.42 benign 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs762837697 20p11.23 20 18150837T> C null M T 132 132 missense 0.107 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370893989 20p11.23 20 18150836A> G null M V 132 132 3.99E-4 missense 0.068 benign 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs751410058 20p11.23 20 18150841C> A null Y * 133 133 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs764067440 20p11.23 20 18150840A> C null Y S 133 133 missense 0.234 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1394867868 20p11.23 20 18150843A> G null N S 134 134 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs757038571 20p11.23 20 18150847G> T null L F 135 135 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs766589065 20p11.23 20 18150849C> G null S C 136 136 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1330406797 20p11.23 20 18150860A> G null S G 140 140 missense 0.053 benign 0.08 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1383004396 20p11.23 20 18150866C> T null R C 142 142 missense 0.736 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs755119101 20p11.23 20 18150867G> A null R H 142 142 missense 0.584 possibly damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs755119101 20p11.23 20 18150867G> C null R P 142 142 missense 0.416 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1384042972 20p11.23 20 18150878T> C null F L 146 146 missense 0.167 benign 0.05 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs971872139 20p11.23 20 18150894A> C null D A 151 151 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs971872139 20p11.23 20 18150894A> G null D G 151 151 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1439348116 20p11.23 20 18150893G> A null D N 151 151 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1163719356 20p11.23 20 18150896A> T null I F 152 152 missense 0.491 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1296986028 20p11.23 20 18150897T> G null I S 152 152 missense 0.369 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1296986028 20p11.23 20 18150897T> C null I T 152 152 missense 0.178 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,TOPMed rs373428838 20p11.23 20 18150900G> A null C Y 153 153 missense 0.66 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1568664823 20p11.23 20 18150905T> C null F L 155 155 missense 0.049 benign 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1453843332 20p11.23 20 18150908A> C null I L 156 156 missense 0.037 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1317692174 20p11.23 20 18150909T> C null I T 156 156 missense 0.116 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,NCI-TCGA,gnomAD rs376529239 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18150915A> G null K R 158 158 missense 0.006 benign 0.72 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs778338998 20p11.23 20 18150918A> G null H R 159 159 missense 0.275 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs771366597 20p11.23 20 18150927T> C null F S 162 162 missense 0.275 benign 0.37 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1011767251 20p11.23 20 18150930T> C null L S 163 163 missense 0.178 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed rs769456314 20p11.23 20 18150932C> A null L I 164 164 missense 0.015 benign 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs961885270 20p11.23 20 18150939A> G null N S 166 166 missense 0.0 benign 1.0 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1461658488 20p11.23 20 18150942G> A null R K 167 167 missense 0.937 probably damaging 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs761781872 20p11.23 20 18159089A> G null K R 169 169 missense 0.979 probably damaging 0.14 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed rs771978703 20p11.23 20 18159092C> T null T M 170 170 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1236393452 20p11.23 20 18159091A> C null T P 170 170 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs968690042 20p11.23 20 18159095C> T null S F 171 171 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs760515163 20p11.23 20 18159109A> G null T A 176 176 missense 0.821 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs765383282 20p11.23 20 18159112G> A null V M 177 177 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs527469129 20p11.23 20 18159130G> T null V L 183 183 2.0E-4 missense 0.361 benign 0.12 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs527469129 20p11.23 20 18159130G> A null V M 183 183 2.0E-4 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs201455529 20p11.23 20 18159144G> A null M I 187 187 2.0E-4 missense 0.007 benign 0.51 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs757887158 20p11.23 20 18159143T> A null M K 187 187 missense 0.043 benign 0.54 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs757887158 20p11.23 20 18159143T> G null M R 187 187 missense 0.058 benign 0.55 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs757887158 20p11.23 20 18159143T> C null M T 187 187 missense 0.003 benign 0.66 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1445046363 20p11.23 20 18159142A> G null M V 187 187 missense 0.0 benign 0.71 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1351083099 20p11.23 20 18159146A> G null Y C 188 188 missense 0.708 possibly damaging 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC rs779584041 20p11.23 20 18159150C> G null F L 189 189 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs748919947 20p11.23 20 18159151C> T null R C 190 190 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,gnomAD rs754597088 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 20p11.23 20 18159152G> A null R H 190 190 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1478024549 20p11.23 20 18159157G> A null G S 192 192 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs973127983 20p11.23 20 18159173G> T null G V 197 197 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs369162923 20p11.23 20 18159175G> C null E Q 198 198 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs747647189 20p11.23 20 18159178C> T null P S 199 199 missense 0.955 probably damaging 0.39 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs372111385 20p11.23 20 18159181G> A null G R 200 200 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs142993082 20p11.23 20 18159188G> A null W * 202 202 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1568667281 20p11.23 20 18159190A> C null K Q 203 203 missense 0.116 benign 0.16 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs770712140 20p11.23 20 18159193C> T null L F 204 204 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1165278503 20p11.23 20 18159200A> G null H R 206 206 missense 0.365 benign 0.24 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1281182826 20p11.23 20 18159211C> G null P A 210 210 missense 0.933 probably damaging 0.13 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs368339859 20p11.23 20 18159214A> G null T A 211 211 missense 0.033 benign 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200313675 20p11.23 20 18159215C> T null T M 211 211 2.0E-4 missense 0.31 benign 0.09 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs948508965 20p11.23 20 18159218T> A null M K 212 212 missense 0.056 benign 0.13 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1490718780 20p11.23 20 18159220A> G null K E 213 213 missense 0.107 benign 0.57 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1419814166 20p11.23 20 18159222A> T null K N 213 213 missense 0.205 benign 0.38 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl,dbSNP rs6081011 20p11.23 20 18159224C> T null P L 214 214 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs761975757 20p11.23 20 18159223C> A null P T 214 214 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs768139399 20p11.23 20 18159230G> T null G V 216 216 missense 0.061 benign 0.51 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1437880770 20p11.23 20 18159235A> T null K * 218 218 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs750880993 20p11.23 20 18159240G> T null L F 219 219 missense 0.805 possibly damaging 0.69 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1183212737 20p11.23 20 18159238T> A null L M 219 219 missense 0.861 possibly damaging 0.26 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs144777902 20p11.23 20 18159242C> G null S C 220 220 2.0E-4 missense 0.099 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs756455634 20p11.23 20 18159241T> C null S P 220 220 missense 0.791 possibly damaging 0.11 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs146682216 20p11.23 20 18159244G> A null A T 221 221 2.0E-4 missense 0.006 benign 0.24 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs778536358 20p11.23 20 18159251C> T null T I 223 223 missense 0.005 benign 0.19 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,gnomAD rs754687245 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18159250A> T null T S 223 223 missense 0.0 benign 0.82 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs747661770 20p11.23 20 18159259A> G null I V 226 226 missense 0.0 benign 0.72 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1384772068 20p11.23 20 18161834A> G null T A 232 232 missense 0.0 benign 1.0 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs752298418 20p11.23 20 18161835C> T null T I 232 232 missense 0.022 benign 0.63 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1311591055 20p11.23 20 18161843C> G null P A 235 235 missense 0.991 probably damaging 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1326587266 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18161844C> T null P L 235 235 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs199807554 20p11.23 20 18161849A> G null I V 237 237 2.0E-4 missense 0.811 possibly damaging 0.21 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1338156726 20p11.23 20 18161856T> C null V A 239 239 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs751009885 20p11.23 20 18161861G> T null G * 241 241 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1202100911 20p11.23 20 18161874G> A null R Q 245 245 missense 0.975 probably damaging 0.07 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs780986952 20p11.23 20 18161879A> G null S G 247 247 missense 0.0 benign 0.42 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1429406844 20p11.23 20 18161880G> A null S N 247 247 missense 0.109 benign 0.39 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs150894437 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18161883G> A null R Q 248 248 missense 0.975 probably damaging 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs917976344 20p11.23 20 18161891G> A null V M 251 251 missense 0.994 probably damaging 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs769651729 20p11.23 20 18161894G> C null E Q 252 252 missense 0.986 probably damaging 0.23 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs908377758 20p11.23 20 18161903A> G null M V 255 255 missense 0.067 benign 0.18 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1568668232 20p11.23 20 18161910T> C null L S 257 257 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1468044362 20p11.23 20 18161912A> G null K E 258 258 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1302119083 20p11.23 20 18161913A> G null K R 258 258 missense 0.979 probably damaging 0.11 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs773402956 20p11.23 20 18161927C> T null R * 263 263 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs760669635 20p11.23 20 18161928G> T null R L 263 263 missense 0.986 probably damaging 0.16 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,gnomAD rs760669635 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18161928G> A null R Q 263 263 missense 0.975 probably damaging 0.05 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1284497276 20p11.23 20 18161936G> A null E K 266 266 missense 0.979 probably damaging 0.18 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149982131 20p11.23 20 18161939G> A null A T 267 267 7.99E-4 missense 0.991 probably damaging 0.17 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1255831857 20p11.23 20 18161946A> G null D G 269 269 missense 0.326 benign 0.09 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1227095571 20p11.23 20 18161951A> G null R G 271 271 missense 0.974 probably damaging 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1289397907 20p11.23 20 18161957G> C null A P 273 273 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1486382654 20p11.23 20 18161963A> T null K * 275 275 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1252165238 20p11.23 20 18161967A> G null E G 276 276 missense 0.986 probably damaging 0.31 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs759917637 20p11.23 20 18161969G> A null A T 277 277 missense 0.991 probably damaging 0.22 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,gnomAD rs753030276 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18161972G> A null A T 278 278 missense 0.661 possibly damaging 0.18 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1221473795 20p11.23 20 18161976G> A null G D 279 279 missense 0.241 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs762641777 20p11.23 20 18161984G> A null D N 282 282 missense 0.991 probably damaging 0.07 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs763638998 20p11.23 20 18161987A> G null R G 283 283 missense 0.73 possibly damaging 0.25 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs751147121 20p11.23 20 18161989G> C null R S 283 283 missense 0.64 possibly damaging 0.55 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs756655555 20p11.23 20 18161991G> T null S I 284 284 missense 0.988 probably damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs868539805 20p11.23 20 18161993A> C null T P 285 285 missense 0.0 benign 0.12 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1364206023 20p11.23 20 18162000C> T null S F 287 287 missense 0.992 probably damaging 0.5 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC rs781198544 20p11.23 20 18161999T> C null S P 287 287 missense 0.981 probably damaging 0.24 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1049432206 20p11.23 20 18162014T> C null F L 292 292 missense 0.028 benign 0.61 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1286779809 20p11.23 20 18162019A> G null I M 293 293 missense 0.103 benign 0.25 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs890869576 20p11.23 20 18162017A> G null I V 293 293 missense 0.0 benign 0.66 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1218000254 20p11.23 20 18162021G> A null S N 294 294 missense 0.73 possibly damaging 0.38 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs565693687 20p11.23 20 18162023C> T null R * 295 295 2.0E-4 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147310108 20p11.23 20 18162024G> A null R Q 295 295 2.0E-4 missense 0.656 possibly damaging 0.37 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1223792906 20p11.23 20 18162029C> T null R C 297 297 missense 0.995 probably damaging 0.09 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs749084134 20p11.23 20 18162030G> A null R H 297 297 missense 0.993 probably damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1218032636 20p11.23 20 18162032A> G null R G 298 298 missense 0.974 probably damaging 0.2 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1021508909 20p11.23 20 18162036C> T null P L 299 299 missense 0.12 benign 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs754772927 20p11.23 20 18162035C> A null P T 299 299 missense 0.851 possibly damaging 0.18 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs772408616 20p11.23 20 18162039A> G null D G 300 300 missense 0.326 benign 0.13 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs777795553 20p11.23 20 18162041G> A null V M 301 301 missense 0.003 benign 0.2 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1271702024 20p11.23 20 18162055A> C null K N 305 305 missense 0.265 benign 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs78550380 20p11.23 20 18162054A> C null K T 305 305 missense 0.26 benign 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,gnomAD rs777155707 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162059G> A null E K 307 307 missense 0.98 probably damaging 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs777155707 20p11.23 20 18162059G> C null E Q 307 307 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1482475397 20p11.23 20 18162063T> G null V G 308 308 missense 0.985 probably damaging 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs760077403 20p11.23 20 18162062G> C null V L 308 308 missense 0.949 probably damaging 0.21 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs760077403 20p11.23 20 18162062G> A null V M 308 308 missense 0.994 probably damaging 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs780903900 20p11.23 20 18162066T> G null I S 309 309 missense 0.852 possibly damaging 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs780903900 20p11.23 20 18162066T> C null I T 309 309 missense 0.736 possibly damaging 0.2 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1452182254 20p11.23 20 18162069A> G null D G 310 310 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1251094478 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162078C> T null S F 313 313 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs763811978 20p11.23 20 18162087C> A null S Y 316 316 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1379447250 20p11.23 20 18162090C> G null S C 317 317 missense 0.994 probably damaging 0.05 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs773813435 20p11.23 20 18162095C> T null R C 319 319 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs761404477 20p11.23 20 18162096G> A null R H 319 319 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs761404477 20p11.23 20 18162096G> C null R P 319 319 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1046456317 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162102C> T null P L 321 321 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC rs756180909 20p11.23 20 18162105T> C null L P 322 322 missense 0.996 probably damaging 0.08 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs753693561 20p11.23 20 18162114C> T null P L 325 325 missense 0.996 probably damaging 0.11 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,gnomAD rs375202231 20p11.23 20 18162116T> C null S P 326 326 missense 0.981 probably damaging 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs778079203 20p11.23 20 18162119C> T null P S 327 327 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1342997676 20p11.23 20 18162123C> T null S F 328 328 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs757472873 20p11.23 20 18162122T> C null S P 328 328 missense 0.981 probably damaging 0.07 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs781300283 20p11.23 20 18162135A> T null D V 332 332 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs745932752 20p11.23 20 18162137T> A null F I 333 333 missense 0.974 probably damaging 0.26 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1220858761 20p11.23 20 18162139C> A null F L 333 333 missense 0.961 probably damaging 0.53 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs745932752 20p11.23 20 18162137T> C null F L 333 333 missense 0.961 probably damaging 0.53 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs770349462 20p11.23 20 18162143G> A null A T 335 335 missense 0.877 possibly damaging 0.17 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1176683900 20p11.23 20 18162150G> A null G D 337 337 missense 0.998 probably damaging 0.25 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs775905109 20p11.23 20 18162149G> A null G S 337 337 missense 0.997 probably damaging 0.17 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC rs749672783 20p11.23 20 18162152A> C null T P 338 338 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs774082945 20p11.23 20 18162171C> T null A V 344 344 missense 0.987 probably damaging 0.05 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC rs141295925 20p11.23 20 18162180G> C null S T 347 347 missense 0.961 probably damaging 0.14 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1355762321 20p11.23 20 18162197G> T null D Y 353 353 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1424208888 20p11.23 20 18162207C> T null P L 356 356 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1464024430 20p11.23 20 18162210A> G null D G 357 357 missense 0.991 probably damaging 0.11 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1172170909 20p11.23 20 18162213T> C null V A 358 358 missense 0.001 benign 0.55 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs971185311 20p11.23 20 18162212G> A null V M 358 358 missense 0.628 possibly damaging 0.05 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1379424269 20p11.23 20 18162217G> A null M I 359 359 missense 0.758 possibly damaging 0.45 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1478493371 20p11.23 20 18162215A> T null M L 359 359 missense 0.65 possibly damaging 0.57 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1376668341 20p11.23 20 18162228C> A null A D 363 363 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1376668341 20p11.23 20 18162228C> T null A V 363 363 missense 0.987 probably damaging 0.35 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs757457255 20p11.23 20 18162236C> T null H Y 366 366 missense 0.946 probably damaging 0.24 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs772516270 20p11.23 20 18162383A> G null D G 369 369 missense 0.205 benign 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs771410911 20p11.23 20 18162382G> A null D N 369 369 missense 0.215 benign 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs771410911 20p11.23 20 18162382G> T null D Y 369 369 missense 0.823 possibly damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs746703828 20p11.23 20 18162387G> C null E D 370 370 missense 0.979 probably damaging 0.17 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1272963130 20p11.23 20 18162386A> G null E G 370 370 missense 0.986 probably damaging 0.2 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs777600380 20p11.23 20 18162385G> A null E K 370 370 missense 0.979 probably damaging 0.17 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1450025325 20p11.23 20 18162395G> T null G V 373 373 missense 0.88 possibly damaging 0.24 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143607429 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162397G> A null D N 374 374 2.0E-4 missense 0.859 possibly damaging 0.16 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1351143155 20p11.23 20 18162400G> A null G R 375 375 missense 0.999 probably damaging 0.11 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73899803 20p11.23 20 18162401G> T null G V 375 375 0.004792 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs769620752 20p11.23 20 18162408A> G null I M 377 377 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1032520615 20p11.23 20 18162409G> C null D H 378 378 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1413772005 20p11.23 20 18162416G> A null G E 380 380 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs147453703 20p11.23 20 18162426C> A null Y * 383 383 2.0E-4 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs988690308 20p11.23 20 18162425A> G null Y C 383 383 missense 0.708 possibly damaging 0.19 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs766608395 20p11.23 20 18162427G> A null V I 384 384 missense 0.0 benign 1.0 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs766608395 20p11.23 20 18162427G> C null V L 384 384 missense 0.001 benign 0.39 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs907936481 20p11.23 20 18162434C> G null P R 386 386 missense 0.607 possibly damaging 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs755029106 20p11.23 20 18162436C> G null P A 387 387 missense 0.046 benign 0.44 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs779311671 20p11.23 20 18162437C> T null P L 387 387 missense 0.109 benign 0.37 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs755029106 20p11.23 20 18162436C> T null P S 387 387 missense 0.003 benign 0.46 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs755029106 20p11.23 20 18162436C> A null P T 387 387 missense 0.109 benign 0.27 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1321522916 20p11.23 20 18162443G> A null G E 389 389 missense 0.11 benign 0.7 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1321522916 20p11.23 20 18162443G> T null G V 389 389 missense 0.082 benign 0.47 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1229969102 20p11.23 20 18162446C> T null S L 390 390 missense 0.0 benign 0.33 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371116433 20p11.23 20 18162448G> A null V I 391 391 3.99E-4 missense 0.015 benign 0.38 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1287517997 20p11.23 20 18162452C> A null A D 392 392 missense 0.022 benign 0.08 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs919794112 20p11.23 20 18162464T> C null V A 396 396 missense 0.0 benign 0.49 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs746306974 20p11.23 20 18162467T> C null V A 397 397 missense 0.0 benign 1.0 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs747368078 20p11.23 20 18162470G> A null G E 398 398 missense 0.103 benign 1.0 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs985398909 20p11.23 20 18162469G> A null G R 398 398 missense 0.206 benign 0.53 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs985398909 20p11.23 20 18162469G> T null G W 398 398 missense 0.518 possibly damaging 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1205193 20p11.23 20 18162473T> A null V D 399 399 0.009385 missense 0.009 benign 0.22 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1422721600 20p11.23 20 18162472G> T null V F 399 399 missense 0.02 benign 0.71 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1205193 pubmed:14702039,pubmed:15489334 20p11.23 20 18162473T> G null V G 399 399 0.009385 missense 0.0 benign 0.35 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1288354971 20p11.23 20 18162476G> A null R K 400 400 missense 0.217 benign 0.6 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1183146631 20p11.23 20 18162479A> G null K R 401 401 missense 0.003 benign 0.09 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs745379923 20p11.23 20 18162484G> T null V F 403 403 missense 0.463 possibly damaging 0.12 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1354960896 20p11.23 20 18162487A> T null R * 404 404 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373222003 20p11.23 20 18162491G> A null G D 405 405 2.0E-4 missense 0.009 benign 0.63 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1444130428 20p11.23 20 18162490G> A null G S 405 405 missense 0.0 benign 0.74 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs775317195 20p11.23 20 18162499C> G null Q E 408 408 missense 0.009 benign 0.91 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1410183623 20p11.23 20 18162500A> G null Q R 408 408 missense 0.015 benign 0.54 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs749263148 20p11.23 20 18162502A> G null I V 409 409 missense 0.927 probably damaging 0.52 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1390095381 20p11.23 20 18162512A> C null E A 412 412 missense 0.987 probably damaging 0.19 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs377454074 20p11.23 20 18162513G> C null E D 412 412 missense 0.98 probably damaging 0.23 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1568668642 20p11.23 20 18162515T> C null V A 413 413 missense 0.001 benign 0.97 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs201185640 20p11.23 20 18162514G> A null V I 413 413 missense 0.0 benign 0.25 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1445700739 20p11.23 20 18162518A> T null E V 414 414 missense 0.587 possibly damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs761589899 20p11.23 20 18162521G> C null S T 415 415 missense 0.969 probably damaging 0.24 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs943732682 20p11.23 20 18162524A> G null E G 416 416 missense 0.991 probably damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1384458646 20p11.23 20 18162531A> T null E D 418 418 missense 0.015 benign 0.37 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1228322966 20p11.23 20 18162534A> C null K N 419 419 missense 0.215 benign 0.22 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1242153920 20p11.23 20 18162532A> C null K Q 419 419 missense 0.124 benign 0.22 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1283150937 20p11.23 20 18162533A> C null K T 419 419 missense 0.215 benign 0.42 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1339447549 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162535C> T null P S 420 420 missense 0.001 benign 0.7 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1456727051 20p11.23 20 18162539A> G null D G 421 421 missense 0.051 benign 0.27 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,gnomAD rs776865249 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162538G> A null D N 421 421 missense 0.081 benign 0.39 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs776865249 20p11.23 20 18162538G> T null D Y 421 421 missense 0.598 possibly damaging 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1244129518 20p11.23 20 18162541A> G null R G 422 422 missense 0.082 benign 0.23 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1425842981 20p11.23 20 18162543G> C null R S 422 422 missense 0.059 benign 0.48 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs765398492 20p11.23 20 18162547G> T null D Y 424 424 missense 0.421 benign 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1053847362 20p11.23 20 18162551T> C null I T 425 425 missense 0.006 benign 0.59 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs752806005 20p11.23 20 18162561A> T null E D 428 428 missense 0.98 probably damaging 0.14 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1172755693 20p11.23 20 18162569A> G null D G 431 431 missense 0.0 benign 0.37 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs751979985 20p11.23 20 18162581C> T null S F 435 435 missense 0.444 benign 0.05 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs764697568 20p11.23 20 18162580T> C null S P 435 435 missense 0.001 benign 0.3 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs757581637 20p11.23 20 18162593G> A null R K 439 439 missense 0.025 benign 0.94 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1568668703 20p11.23 20 18162596C> A null A D 440 440 missense 0.046 benign 0.49 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1030407295 20p11.23 20 18162595G> C null A P 440 440 missense 0.0 benign 0.28 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1333051791 20p11.23 20 18162598A> G null R G 441 441 missense 0.172 benign 0.45 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,dbSNP,gnomAD rs2295182 20p11.23 20 18162599G> C null R T 441 441 missense 0.172 benign 0.57 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs745490259 20p11.23 20 18162601G> C null E Q 442 442 missense 0.062 benign 0.24 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs113702613 20p11.23 20 18162614C> T null P L 446 446 missense 0.015 benign 0.24 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs764387114 20p11.23 20 18162617A> G null Q R 447 447 missense 0.009 benign 0.52 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1173474489 20p11.23 20 18162619C> G null L V 448 448 missense 0.001 benign 0.45 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs774218588 20p11.23 20 18162623A> C null E A 449 449 missense 0.098 benign 0.32 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs747960089 20p11.23 20 18162631A> G null T A 452 452 missense 0.0 benign 0.75 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs771861001 20p11.23 20 18162632C> T null T I 452 452 missense 0.007 benign 0.16 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs759855087 20p11.23 20 18162638C> T null P L 454 454 missense 0.0 benign 0.19 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs775781896 20p11.23 20 18162644A> T null E V 456 456 missense 0.003 benign 0.21 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs963451137 20p11.23 20 18162650G> C null R T 458 458 missense 0.031 benign 0.42 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs539426488 20p11.23 20 18162653A> G null Y C 459 459 2.0E-4 missense 0.001 benign 0.16 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs764708112 20p11.23 20 18162658C> G null P A 461 461 missense 0.0 benign 0.27 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs757589315 20p11.23 20 18162659C> T null P L 461 461 missense 0.0 benign 0.28 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs764708112 20p11.23 20 18162658C> A null P T 461 461 missense 0.022 benign 0.25 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144863968 20p11.23 20 18162661G> C null V L 462 462 3.99E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144863968 20p11.23 20 18162661G> A null V M 462 462 3.99E-4 missense 0.014 benign 0.57 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1304250970 20p11.23 20 18162665G> T null S I 463 463 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs748799943 20p11.23 20 18162669C> G null I M 464 464 missense 0.106 benign 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1363133985 20p11.23 20 18162668T> A null I N 464 464 missense 0.413 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs577238938 20p11.23 20 18162672C> A null Y * 465 465 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs148582987 20p11.23 20 18162671A> G null Y C 465 465 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs771882905 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Global developmental delay 20p11.23 20 18162673G> A null E K 466 466 missense 0.994 probably damaging 0.0 deleterious 0 Global developmental delay (DD) pubmed:21956720,ClinVar:RCV000454346 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs970914755 20p11.23 20 18162674A> T null E V 466 466 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs746779240 20p11.23 20 18162678A> T null E D 467 467 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs777685696 20p11.23 20 18162677A> G null E G 467 467 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs770062188 20p11.23 20 18162682C> G null L V 469 469 missense 0.467 possibly damaging 0.3 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs774536716 20p11.23 20 18162688C> T null L F 471 471 missense 0.676 possibly damaging 0.04 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs762427924 20p11.23 20 18162691A> T null K * 472 472 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs762427924 20p11.23 20 18162691A> C null K Q 472 472 missense 0.049 benign 0.04 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs937679347 20p11.23 20 18162692A> G null K R 472 472 missense 0.0 benign 0.77 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,gnomAD rs372711116 20p11.23 20 18162703G> T null A S 476 476 2.0E-4 missense 0.197 benign 0.7 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs199981319 20p11.23 20 18162709C> G null P A 478 478 missense 0.164 benign 0.23 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs778444247 20p11.23 20 18162713G> A null G D 479 479 missense 0.014 benign 0.63 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs754595069 20p11.23 20 18162712G> A null G S 479 479 missense 0.0 benign 0.75 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1242634306 20p11.23 20 18162726G> A null M I 483 483 missense 0.0 benign 0.32 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1378080435 20p11.23 20 18162724A> C null M L 483 483 missense 0.003 benign 0.59 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,gnomAD rs758432385 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162731C> T null P L 485 485 missense 0.677 possibly damaging 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA rs752139671 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162730C> T null P S 485 485 missense 0.066 benign 0.25 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs746837288 20p11.23 20 18162740G> A null R Q 488 488 missense 0.396 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1203977235 20p11.23 20 18162739C> T null R W 488 488 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1228771478 20p11.23 20 18162745C> G null L V 490 490 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368262295 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162751C> T null R C 492 492 missense 0.897 possibly damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1487498733 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162752G> A null R H 492 492 missense 0.866 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs749558229 20p11.23 20 18162761T> C null I T 495 495 missense 0.061 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1047022156 20p11.23 20 18162769C> G null Q E 498 498 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs150608745 20p11.23 20 18162770A> T null Q L 498 498 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41276418 20p11.23 20 18162773C> A null A E 499 499 7.99E-4 missense 0.999 probably damaging 0.51 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41276418 20p11.23 20 18162773C> G null A G 499 499 7.99E-4 missense 0.998 probably damaging 0.13 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41276418 20p11.23 20 18162773C> T null A V 499 499 7.99E-4 missense 0.997 probably damaging 0.12 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1480644676 20p11.23 20 18162775A> G null K E 500 500 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1166373796 20p11.23 20 18162778A> G null R G 501 501 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1456882776 20p11.23 20 18162782A> T null D V 502 502 missense 0.262 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1401519936 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162802G> A null D N 509 509 missense 0.998 probably damaging 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1366706675 20p11.23 20 18162810T> A null D E 511 511 missense 0.01 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs773533239 20p11.23 20 18162811C> A null Q K 512 512 missense 0.085 benign 0.53 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,gnomAD rs201116564 20p11.23 20 18162812A> G null Q R 512 512 2.0E-4 missense 0.003 benign 0.49 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1424111134 20p11.23 20 18162814G> T null V F 513 513 missense 0.165 benign 0.58 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1229091269 20p11.23 20 18162821A> G null N S 515 515 missense 0.003 benign 1.0 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes rs199817439 20p11.23 20 18162827C> T null A V 517 517 2.0E-4 missense 0.453 possibly damaging 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs754179912 20p11.23 20 18162829C> T null L F 518 518 missense 0.647 possibly damaging 0.05 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs764869019 20p11.23 20 18162844G> A null G R 523 523 missense 0.015 benign 0.09 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs764869019 20p11.23 20 18162844G> C null G R 523 523 missense 0.015 benign 0.09 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1251136443 20p11.23 20 18162848T> C null I T 524 524 missense 0.049 benign 0.14 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1264130079 20p11.23 20 18162861A> C null K N 528 528 missense 0.121 benign 0.33 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs757791550 20p11.23 20 18162860A> G null K R 528 528 missense 0.006 benign 0.52 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs199856085 20p11.23 20 18162864A> C null E D 529 529 missense 0.0 benign 0.41 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1183214112 20p11.23 20 18162863A> G null E G 529 529 missense 0.068 benign 0.22 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC rs751409283 20p11.23 20 18162866G> A null G E 530 530 missense 0.656 possibly damaging 0.57 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs893808861 20p11.23 20 18162869G> A null G E 531 531 missense 0.244 benign 0.5 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs757227084 20p11.23 20 18162868G> A null G R 531 531 missense 0.604 possibly damaging 0.23 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs754856993 20p11.23 20 18162871A> G null I V 532 532 missense 0.0 benign 0.73 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1164718163 20p11.23 20 18162878G> T null R I 534 534 missense 0.494 possibly damaging 0.39 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1164718163 20p11.23 20 18162878G> C null R T 534 534 missense 0.367 benign 0.38 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs781177232 20p11.23 20 18162881T> A null L H 535 535 missense 0.165 benign 0.5 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs745641889 20p11.23 20 18162883C> G null P A 536 536 missense 0.663 possibly damaging 0.45 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs745641889 20p11.23 20 18162883C> T null P S 536 536 missense 0.806 possibly damaging 0.56 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs778935324 20p11.23 20 18162892C> A null Q K 539 539 missense 0.0 benign 0.93 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs202185782 20p11.23 20 18162893A> G null Q R 539 539 7.99E-4 missense 0.0 benign 0.57 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs772007375 20p11.23 20 18162895G> C null A P 540 540 missense 0.951 probably damaging 0.32 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1278764855 20p11.23 20 18162899C> T null T M 541 541 missense 0.977 probably damaging 0.18 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs747563583 20p11.23 20 18162902A> G null Y C 542 542 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1021174502 20p11.23 20 18162904A> G null R G 543 543 missense 0.725 possibly damaging 0.07 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs200183010 20p11.23 20 18162907A> T null T S 544 544 missense 0.979 probably damaging 0.57 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs759832009 20p11.23 20 18162911C> G null T S 545 545 missense 0.198 benign 0.55 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1193835089 20p11.23 20 18162921C> G null D E 548 548 missense 0.132 benign 0.58 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs764958449 20p11.23 20 18162919G> A null D N 548 548 missense 0.895 possibly damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs774959322 20p11.23 20 18162928A> G null I V 551 551 missense 0.811 possibly damaging 0.52 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1568668972 20p11.23 20 18162934G> T null D Y 553 553 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs762552568 20p11.23 20 18162937C> T null R * 554 554 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs762552568 20p11.23 20 18162937C> G null R G 554 554 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs763550019 20p11.23 20 18162938G> C null R P 554 554 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs763550019 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18162938G> A null R Q 554 554 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs751054844 20p11.23 20 18162942C> G null Y * 555 555 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1415357796 20p11.23 20 18162943C> T null Q * 556 556 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,gnomAD rs570464961 20p11.23 20 18181711C> T null T I 557 557 2.0E-4 missense 0.011 benign 0.21 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1014615849 20p11.23 20 18181713T> A null S T 558 558 missense 0.0 benign 0.51 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs763784705 20p11.23 20 18181717T> C null L S 559 559 missense 0.09 benign 0.48 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1159439248 20p11.23 20 18181720C> T null P L 560 560 missense 0.014 benign 0.3 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs752711495 20p11.23 20 18181723C> G null S C 561 561 missense 0.306 benign 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1417885839 20p11.23 20 18181722T> C null S P 561 561 missense 0.063 benign 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1438507961 20p11.23 20 18181731G> A null G R 564 564 missense 0.587 possibly damaging 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1438507961 20p11.23 20 18181731G> C null G R 564 564 missense 0.587 possibly damaging 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs750335978 20p11.23 20 18181737C> T null R * 566 566 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs760576992 20p11.23 20 18181738G> A null R Q 566 566 missense 0.003 benign 0.72 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1240466333 20p11.23 20 18181741A> T null H L 567 567 missense 0.014 benign 0.38 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs766139037 20p11.23 20 18181742C> G null H Q 567 567 missense 0.0 benign 1.0 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,gnomAD rs753656846 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18181744A> G null Q R 568 568 missense 0.0 benign 0.54 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1452747619 20p11.23 20 18181759T> G null L W 573 573 missense 0.031 benign 0.11 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139667492 20p11.23 20 18181761T> A null Y N 574 574 5.99E-4 missense 0.014 benign 0.35 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,gnomAD rs757283450 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18181764C> T null R C 575 575 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs535177493 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18181765G> A null R H 575 575 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs535177493 20p11.23 20 18181765G> T null R L 575 575 2.0E-4 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,gnomAD rs200701319 20p11.23 20 18181773G> A null G R 578 578 2.0E-4 missense 0.069 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1391517970 20p11.23 20 18181782G> T null D Y 581 581 missense 0.323 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs771667388 20p11.23 20 18181787G> A null M I 582 582 missense 0.0 benign 0.19 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs761430420 20p11.23 20 18181786T> A null M K 582 582 missense 0.003 benign 0.92 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs761430420 20p11.23 20 18181786T> G null M R 582 582 missense 0.005 benign 0.52 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs761430420 20p11.23 20 18181786T> C null M T 582 582 missense 0.0 benign 0.57 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs369977136 20p11.23 20 18181785A> G null M V 582 582 missense 0.001 benign 0.29 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs772826839 20p11.23 20 18181792T> C null V A 584 584 missense 0.0 benign 0.88 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs772826839 20p11.23 20 18181792T> G null V G 584 584 missense 0.025 benign 0.48 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1332960643 20p11.23 20 18181791G> A null V M 584 584 missense 0.118 benign 0.23 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs766336780 20p11.23 20 18181796C> G null D E 585 585 missense 0.031 benign 0.44 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs760587768 20p11.23 20 18181795A> G null D G 585 585 missense 0.117 benign 0.07 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC rs753581391 20p11.23 20 18181799G> T null Q H 586 586 missense 0.0 benign 0.28 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs183354585 20p11.23 20 18181801G> T null S I 587 587 2.0E-4 missense 0.346 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC rs751744138 20p11.23 20 18181802T> G null S R 587 587 missense 0.124 benign 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs183354585 20p11.23 20 18181801G> C null S T 587 587 2.0E-4 missense 0.153 benign 0.18 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1230557794 20p11.23 20 18181803A> G null I V 588 588 missense 0.037 benign 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs948622729 20p11.23 20 18181806G> A null V I 589 589 missense 0.085 benign 0.55 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1424211395 20p11.23 20 18181812C> T null P S 591 591 missense 0.528 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1468328754 20p11.23 20 18181816du p null Y * 592 592 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs957690578 20p11.23 20 18181816A> G null Y C 592 592 missense 0.8 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1195123131 20p11.23 20 18181815T> C null Y H 592 592 missense 0.748 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs990171946 20p11.23 20 18181818A> T null T S 593 593 missense 0.345 benign 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs200258495 20p11.23 20 18181822C> G null S C 594 594 missense 0.14 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs200258495 20p11.23 20 18181822C> T null S F 594 594 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1265153354 20p11.23 20 18181824C> T null R W 595 595 missense 0.736 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs780539970 20p11.23 20 18181835A> T null K N 598 598 missense 0.168 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11557577 20p11.23 20 18181837C> G null P R 599 599 0.01338 missense 0.369 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs749626027 20p11.23 20 18181836C> T null P S 599 599 missense 0.264 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1568675376 20p11.23 20 18181840A> G null Y C 600 600 missense 0.639 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs937601169 20p11.23 20 18181844C> G null I M 601 601 missense 0.568 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs747841985 20p11.23 20 18181842A> G null I V 601 601 missense 0.007 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1334353444 20p11.23 20 18181845A> G null R G 602 602 missense 0.109 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1056368648 20p11.23 20 18181846G> A null R K 602 602 missense 0.037 benign 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs777510807 20p11.23 20 18183124C> T null R C 603 603 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs746527378 20p11.23 20 18183125G> A null R H 603 603 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs746527378 20p11.23 20 18183125G> T null R L 603 603 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs746527378 20p11.23 20 18183125G> C null R P 603 603 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1387290197 20p11.23 20 18183128A> G null D G 604 604 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1488633581 20p11.23 20 18183130T> C null Y H 605 605 missense 0.982 probably damaging 0.05 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs745870537 20p11.23 20 18183136A> G null T A 607 607 missense 0.266 benign 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs769702175 20p11.23 20 18183157C> T null L F 614 614 missense 0.617 possibly damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1379140195 20p11.23 20 18183166C> T null Q * 617 617 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1379140195 20p11.23 20 18183166C> A null Q K 617 617 missense 0.033 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1464266963 20p11.23 20 18183169A> T null I F 618 618 missense 0.711 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1018158716 20p11.23 20 18183170T> C null I T 618 618 missense 0.439 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1464266963 20p11.23 20 18183169A> G null I V 618 618 missense 0.028 benign 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373399876 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18183172C> T null R C 619 619 missense 0.721 possibly damaging 0.18 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs373399876 20p11.23 20 18183172C> G null R G 619 619 missense 0.257 benign 0.33 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377501769 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18183173G> A null R H 619 619 missense 0.657 possibly damaging 0.54 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs373399876 20p11.23 20 18183172C> A null R S 619 619 missense 0.196 benign 0.4 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs184947979 20p11.23 20 18183176C> T null S F 620 620 3.99E-4 missense 0.347 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1383523550 20p11.23 20 18183179A> G null H R 621 621 missense 0.054 benign 0.11 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1382147617 20p11.23 20 18183188G> A null R K 624 624 missense 0.0 benign 0.4 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs989613517 20p11.23 20 18183190A> G null S G 625 625 missense 0.0 benign 0.35 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs375470223 20p11.23 20 18183191G> A null S N 625 625 missense 0.0 benign 0.67 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs753838675 20p11.23 20 18183192C> A null S R 625 625 missense 0.065 benign 0.46 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs746639379 20p11.23 20 18183193G> C null D H 626 626 missense 0.015 benign 0.05 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs746639379 20p11.23 20 18183193G> A null D N 626 626 missense 0.103 benign 0.23 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs922380566 20p11.23 20 18183200A> T null H L 628 628 missense 0.007 benign 0.74 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1350683383 20p11.23 20 18183205A> G null T A 630 630 missense 0.033 benign 0.75 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein NCI-TCGA,gnomAD rs781727666 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18183206C> T null T M 630 630 missense 0.013 benign 0.11 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs200943908 20p11.23 20 18183209C> T null P L 631 631 2.0E-4 missense 0.213 benign 0.13 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1210337308 20p11.23 20 18183214C> G null P A 633 633 missense 0.003 benign 0.11 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs144258253 20p11.23 20 18183219C> A null D E 634 634 0.002196 missense 0.007 benign 1.0 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1431184183 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18183217G> A null D N 634 634 missense 0.003 benign 0.38 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs746718890 20p11.23 20 18183220G> C null A P 635 635 missense 0.757 possibly damaging 0.11 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,gnomAD rs746718890 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18183220G> A null A T 635 635 missense 0.285 benign 0.05 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs368910170 20p11.23 20 18183227T> C null L P 637 637 missense 0.714 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs775345165 20p11.23 20 18183229G> C null D H 638 638 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs775345165 20p11.23 20 18183229G> A null D N 638 638 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1185981513 20p11.23 20 18183234C> G null Y * 639 639 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1294586549 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18183232T> C null Y H 639 639 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs773985302 20p11.23 20 18183240T> G null Y * 641 641 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs749101690 20p11.23 20 18183239A> G null Y C 641 641 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs749101690 20p11.23 20 18183239A> C null Y S 641 641 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1462782190 20p11.23 20 18183241G> A null V M 642 642 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs946953402 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18183245G> A null R Q 643 643 missense 0.049 benign 0.07 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs771055078 20p11.23 20 18183244C> T null R W 643 643 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1242566148 20p11.23 20 18183247C> T null P S 644 644 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs759632452 20p11.23 20 18183250A> G null N D 645 645 missense 0.291 benign 0.18 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1316372669 20p11.23 20 18183258C> G null I M 647 647 missense 0.837 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs765868188 20p11.23 20 18183260C> G null P R 648 648 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1466975218 20p11.23 20 18183262A> G null T A 649 649 missense 0.266 benign 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370149832 20p11.23 20 18183263C> A null T K 649 649 3.99E-4 missense 0.59 possibly damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370149832 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18183263C> T null T M 649 649 3.99E-4 missense 0.916 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371662156 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18183272C> T null S F 652 652 missense 0.735 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1423845298 20p11.23 20 18183276G> T null M I 653 653 missense 0.003 benign 0.05 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs755568945 20p11.23 20 18183275T> A null M K 653 653 missense 0.275 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs748551336 20p11.23 20 18183274A> C null M L 653 653 missense 0.001 benign 0.64 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs755568945 20p11.23 20 18183275T> C null M T 653 653 missense 0.153 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs748551336 20p11.23 20 18183274A> G null M V 653 653 missense 0.022 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,gnomAD rs779996247 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 20p11.23 20 18183283G> T null E * 656 656 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs779996247 20p11.23 20 18183283G> A null E K 656 656 missense 0.173 benign 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs749262795 20p11.23 20 18183287T> G null F C 657 657 missense 0.794 possibly damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs768455301 20p11.23 20 18183290T> C null F S 658 658 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1327211528 20p11.23 20 18183294G> T null W C 659 659 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1401455567 20p11.23 20 18183292T> A null W R 659 659 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1449331994 20p11.23 20 18183296C> G null P R 660 660 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs775783788 20p11.23 20 18184602G> C null G A 661 661 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs775783788 20p11.23 20 18184602G> T null G V 661 661 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs769215156 20p11.23 20 18184605T> C null I T 662 662 missense 0.033 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1419220207 20p11.23 20 18184616G> A null E K 666 666 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs199587897 20p11.23 20 18184627G> C null Q H 669 669 missense 0.518 possibly damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs199587897 20p11.23 20 18184627G> T null Q H 669 669 missense 0.518 possibly damaging 0.06 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs200378746 20p11.23 20 18184626A> C null Q P 669 669 missense 0.0 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs200378746 20p11.23 20 18184626A> G null Q R 669 669 missense 0.173 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs143172468 20p11.23 20 18184630C> A null Y * 670 670 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1373737448 20p11.23 20 18184632C> A null P Q 671 671 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs935551230 20p11.23 20 18184631C> T null P S 671 671 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs760377674 20p11.23 20 18184634G> A null D N 672 672 missense 0.287 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs766015596 20p11.23 20 18184637T> G null F V 673 673 missense 0.098 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC rs753359760 20p11.23 20 18184641G> A null S N 674 674 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1302871440 20p11.23 20 18184643G> A null V I 675 675 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs754397620 20p11.23 20 18184656A> G null Y C 679 679 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1428538037 20p11.23 20 18184667A> G null I V 683 683 missense 0.006 benign 1.0 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs765253014 20p11.23 20 18184671T> C null I T 684 684 missense 0.073 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs1568676627 20p11.23 20 18184680G> C null G A 687 687 missense 0.999 probably damaging 0.23 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1368003500 20p11.23 20 18184679G> A null G S 687 687 missense 0.999 probably damaging 0.12 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1220628191 20p11.23 20 18184685A> G null M V 689 689 missense 0.061 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs752618402 20p11.23 20 18184688G> C null V L 690 690 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1437248725 20p11.23 20 18184695A> T null D V 692 692 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1346525855 20p11.23 20 18184698T> C null V A 693 693 missense 0.082 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs758337670 20p11.23 20 18184706A> G null N D 696 696 missense 0.282 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs746800045 20p11.23 20 18184708T> A null N K 696 696 missense 0.073 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs146671141 20p11.23 20 18184707A> G null N S 696 696 missense 0.118 benign 0.04 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1241921620 20p11.23 20 18184716A> G null Y C 699 699 missense 0.715 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs947811065 20p11.23 20 18184715T> C null Y H 699 699 missense 0.477 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs778257150 20p11.23 20 18184718A> G null I V 700 700 missense 0.007 benign 0.09 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs369048963 20p11.23 20 18184733G> T null V F 705 705 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369048963 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18184733G> A null V I 705 705 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs768575880 20p11.23 20 18184736C> A null H N 706 706 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs768575880 20p11.23 20 18184736C> T null H Y 706 706 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs774456400 20p11.23 20 18184739C> T null P S 707 707 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs748651208 20p11.23 20 18184742G> C null E Q 708 708 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs1317505773 20p11.23 20 18184758G> A null G E 713 713 missense 0.135 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1389669595 20p11.23 20 18184761T> C null I T 714 714 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs772553872 20p11.23 20 18184766A> G null T A 716 716 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1189276916 20p11.23 20 18184770T> C null F S 717 717 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs749665553 20p11.23 20 18184774G> T null M I 718 718 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs749665553 20p11.23 20 18184774G> C null M I 718 718 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs771364697 20p11.23 20 18184776T> G null I S 719 719 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl rs552267695 20p11.23 20 18184775A> G null I V 719 719 missense 0.978 probably damaging 0.21 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,NCI-TCGA,TOPMed,gnomAD rs776227052 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18184779A> G null Y C 720 720 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1310863167 20p11.23 20 18184781C> T null H Y 721 721 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs769486744 20p11.23 20 18187286A> G null T A 725 725 missense 0.343 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1199532269 20p11.23 20 18187287C> T null T I 725 725 missense 0.776 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed,gnomAD rs899027295 20p11.23 20 18187290G> T null C F 726 726 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1181254148 20p11.23 20 18187292A> G null M V 727 727 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs774871268 20p11.23 20 18187302A> G null D G 730 730 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1175544407 20p11.23 20 18187305T> G null V G 731 731 missense 0.17 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs764145827 20p11.23 20 18187304G> A null V I 731 731 missense 0.014 benign 0.14 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs370726181 20p11.23 20 18187316G> A null V I 735 735 missense 0.27 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein Ensembl,dbSNP rs6081027 20p11.23 20 18187322G> T null A S 737 737 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1416139717 20p11.23 20 18187325A> G null S G 738 738 missense 0.197 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1255540939 20p11.23 20 18187329A> G null N S 739 739 missense 0.028 benign 0.03 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs755222049 20p11.23 20 18187332C> T null P L 740 740 missense 0.079 benign 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs538749857 20p11.23 20 18187334G> C null A P 741 741 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs538749857 20p11.23 20 18187334G> A null A T 741 741 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1219703485 20p11.23 20 18187343C> G null L V 744 744 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1259037824 20p11.23 20 18187356T> G null F C 748 748 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1259037824 20p11.23 20 18187356T> C null F S 748 748 missense 0.731 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs771416556 20p11.23 20 18187365A> C null K T 751 751 missense 0.836 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1279457894 20p11.23 20 18187385G> A null D N 758 758 missense 0.453 possibly damaging 0.07 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1486665441 20p11.23 20 18187392A> G null Y C 760 760 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein TOPMed rs1480273182 20p11.23 20 18187395A> T null D V 761 761 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs769348600 20p11.23 20 18187405C> G null Y * 764 764 stop gained 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs137933417 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20p11.23 20 18187404A> G null Y C 764 764 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1195140106 20p11.23 20 18187410T> C null L S 766 766 missense 0.787 possibly damaging 0.17 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein gnomAD rs1371109688 20p11.23 20 18187418A> G null T A 769 769 missense 0.0 benign 0.15 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs762580071 20p11.23 20 18187421G> A null E K 770 770 missense 0.352 benign 0.01 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs768319161 20p11.23 20 18187425G> A null C Y 771 771 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs773974372 20p11.23 20 18187430C> T null H Y 773 773 missense 0.709 possibly damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs767485031 20p11.23 20 18187433G> T null A S 774 774 missense 0.998 probably damaging 0.1 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,TOPMed,gnomAD rs767485031 20p11.23 20 18187433G> A null A T 774 774 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,TOPMed,gnomAD rs542639313 20p11.23 20 18187451C> G null R G 780 780 3.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs753002948 20p11.23 20 18187452G> A null R Q 780 780 missense 0.996 probably damaging 0.08 tolerated 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs542639313 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 20p11.23 20 18187451C> T null R W 780 780 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ExAC,gnomAD rs758595385 20p11.23 20 18187454C> T null R C 781 781 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H4 KAT14 Cysteine-rich protein 2-binding protein ESP,ExAC,TOPMed,gnomAD rs376874386 20p11.23 20 18187455G> A null R H 781 781 missense 0.998 probably damaging 0.05 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed rs1356621216 9p13.3 9 33617791G> A null E K 2 2 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs192476382 9p13.3 9 33617795C> A null T K 3 3 7.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed rs1428397271 9p13.3 9 33617798T> C null V A 4 4 missense 0.0 unknown 0.44 tolerated - low confidence 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC rs763727366 9p13.3 9 33617822G> T null G V 12 12 missense 0.161 benign 0.0 deleterious - low confidence 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed,gnomAD rs1321460842 9p13.3 9 33617825G> A null G D 13 13 missense 0.96 probably damaging 0.13 tolerated - low confidence 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1200010340 9p13.3 9 33617827G> A null V M 14 14 missense 0.168 benign 0.01 deleterious - low confidence 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) Ensembl rs41315987 9p13.3 9 33617830G> A null G R 15 15 missense 0.0 benign 0.7 tolerated - low confidence 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed rs751003880 9p13.3 9 33617839C> G null R G 18 18 missense 0.0 benign 0.22 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed,gnomAD rs1179963538 9p13.3 9 33617840G> A null R Q 18 18 missense 0.0 benign 0.44 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed rs751003880 9p13.3 9 33617839C> T null R W 18 18 missense 0.003 benign 0.03 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1480995157 9p13.3 9 33617847G> A null M I 20 20 missense 0.111 benign 0.01 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs756735066 9p13.3 9 33617848C> G null L V 21 21 missense 0.646 possibly damaging 0.01 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed,gnomAD rs1376782008 9p13.3 9 33617861T> A null L Q 25 25 missense 0.906 possibly damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed rs777816236 9p13.3 9 33618205G> C null G A 30 30 missense 0.0 benign 0.12 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed rs777816236 9p13.3 9 33618205G> A null G D 30 30 missense 0.001 benign 0.01 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed rs777816236 9p13.3 9 33618205G> T null G V 30 30 missense 0.001 benign 0.01 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs542672631 9p13.3 9 33618213C> T null L F 33 33 2.0E-4 missense 0.865 possibly damaging 0.62 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) Ensembl rs45480803 9p13.3 9 33618216A> G null S G 34 34 missense 0.0 benign 1.0 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs779952047 9p13.3 9 33618217G> A null S N 34 34 missense 0.007 benign 0.01 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs748990557 9p13.3 9 33618219G> A null A T 35 35 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1186189904 9p13.3 9 33618223T> A null V D 36 36 missense 0.636 possibly damaging 0.02 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs768389108 9p13.3 9 33618225G> A null V I 37 37 missense 0.38 benign 0.56 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs773815374 9p13.3 9 33618234C> T null H Y 40 40 missense 0.009 benign 1.0 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed,gnomAD rs1165106366 9p13.3 9 33618238C> T null P L 41 41 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed rs1374598589 9p13.3 9 33618245G> C null R S 43 43 missense 0.227 benign 0.05 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1457251296 9p13.3 9 33618243A> T null R W 43 43 missense 0.013 benign 0.03 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed rs1463425336 9p13.3 9 33618249A> G null I V 45 45 missense 0.062 benign 0.17 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed,gnomAD rs1289368281 9p13.3 9 33618252T> G null C G 46 46 missense 0.777 possibly damaging 0.12 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1387118392 9p13.3 9 33618256A> T null K M 47 47 missense 0.106 benign 0.02 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs761540495 9p13.3 9 33618258A> G null S G 48 48 missense 0.531 possibly damaging 0.2 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs771771475 9p13.3 9 33618259G> T null S I 48 48 missense 0.967 probably damaging 0.1 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs771771475 9p13.3 9 33618259G> A null S N 48 48 missense 0.014 benign 0.41 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs771771475 9p13.3 9 33618259G> C null S T 48 48 missense 0.355 benign 0.37 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1383664487 9p13.3 9 33618262G> C null G A 49 49 missense 0.934 probably damaging 0.01 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) Ensembl rs45575231 9p13.3 9 33618275C> G null N K 53 53 missense 0.0 benign 1.0 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs760170053 9p13.3 9 33618277T> A null I N 54 54 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed,gnomAD rs1052383830 9p13.3 9 33618279G> A null E K 55 55 missense 0.112 benign 0.16 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs559696110 9p13.3 9 33618284C> G null C W 56 56 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs763159014 9p13.3 9 33618285C> T null R C 57 57 missense 0.029 benign 0.16 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs764391753 9p13.3 9 33618286G> A null R H 57 57 missense 0.005 benign 0.54 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs764391753 9p13.3 9 33618286G> T null R L 57 57 missense 0.009 benign 0.48 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1349092125 9p13.3 9 33618289C> T null S F 58 58 missense 0.125 benign 0.28 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed rs1337956132 9p13.3 9 33618294G> C null D H 60 60 missense 0.974 probably damaging 0.05 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs757466983 9p13.3 9 33618297T> C null F L 61 61 missense 0.014 benign 0.52 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs767629147 9p13.3 9 33618300C> T null Q * 62 62 stop gained 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs545335261 9p13.3 9 33618304C> A null A D 63 63 2.0E-4 missense 0.961 probably damaging 0.2 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs756101942 9p13.3 9 33618303G> T null A S 63 63 missense 0.729 possibly damaging 0.4 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs756101942 9p13.3 9 33618303G> A null A T 63 63 missense 0.241 benign 0.39 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs754784042 9p13.3 9 33618313T> A null M K 66 66 missense 0.392 benign 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs778844073 9p13.3 9 33618320G> C null W C 68 68 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs747839645 9p13.3 9 33618325G> A null R H 70 70 missense 0.055 benign 0.18 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs747839645 9p13.3 9 33618325G> C null R P 70 70 missense 0.958 probably damaging 0.02 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs771828604 9p13.3 9 33618327C> T null Q * 71 71 stop gained 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs139663623 9p13.3 9 33618329G> C null Q H 71 71 0.00599 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs746476782 9p13.3 9 33618331T> C null L P 72 72 missense 0.95 probably damaging 0.38 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs45618335 9p13.3 9 33618334G> T null R L 73 73 missense 0.0 benign 0.04 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs45618335 9p13.3 9 33618334G> C null R P 73 73 missense 0.0 benign 1.0 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs45618335 9p13.3 9 33618334G> A null R Q 73 73 missense 0.012 benign 0.24 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1392195755 9p13.3 9 33618333C> T null R W 73 73 missense 0.274 benign 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed rs775804032 9p13.3 9 33618339C> T null Q * 75 75 stop gained 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed rs775804032 9p13.3 9 33618339C> G null Q E 75 75 missense 0.491 possibly damaging 0.07 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1264348128 9p13.3 9 33618343G> T null S I 76 76 missense 0.944 probably damaging 0.02 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs762076222 9p13.3 9 33618350G> A null M I 78 78 missense 0.005 benign 0.46 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs774667832 9p13.3 9 33618349T> A null M K 78 78 missense 0.078 benign 0.35 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs764434860 9p13.3 9 33618348A> T null M L 78 78 missense 0.001 benign 0.27 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs774667832 9p13.3 9 33618349T> C null M T 78 78 missense 0.003 benign 0.67 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs12380761 9p13.3 9 33618351C> G null L V 79 79 3.99E-4 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs756084154 9p13.3 9 33618355T> C null M T 80 80 missense 0.729 possibly damaging 0.01 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1181327234 9p13.3 9 33618357G> A null A T 81 81 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1429987812 9p13.3 9 33618358C> T null A V 81 81 missense 0.543 possibly damaging 0.13 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs855512 9p13.3 9 33618360A> G null T A 82 82 0.4493 missense 0.092 benign 0.05 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1358658716 9p13.3 9 33618361C> T null T I 82 82 missense 0.743 possibly damaging 0.09 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs855512 9p13.3 9 33618360A> C null T P 82 82 0.4493 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs778897231 9p13.3 9 33618368T> A null N K 84 84 missense 0.935 probably damaging 0.01 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs754909627 9p13.3 9 33618367A> G null N S 84 84 missense 0.092 benign 0.2 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs747903112 9p13.3 9 33618372G> T null G C 86 86 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed,gnomAD rs1434166949 9p13.3 9 33618373G> A null G D 86 86 missense 0.919 probably damaging 0.14 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs747903112 9p13.3 9 33618372G> A null G S 86 86 missense 0.831 possibly damaging 0.06 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs45593731 9p13.3 9 33618378G> A null E K 88 88 missense 0.0 benign 0.64 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed,gnomAD rs1298503541 9p13.3 9 33618381G> A null V I 89 89 missense 0.04 benign 0.06 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed rs1279755195 9p13.3 9 33618385C> T null T I 90 90 missense 0.843 possibly damaging 0.09 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs547022043 9p13.3 9 33618387T> C null Y H 91 91 3.99E-4 missense 0.061 benign 0.04 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1276388123 9p13.3 9 33618390G> A null E K 92 92 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed rs1328126054 9p13.3 9 33618397G> A null G D 94 94 missense 0.072 benign 0.09 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs45497592 9p13.3 9 33618402A> G null K E 96 96 missense 0.0 benign 0.4 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs45497592 9p13.3 9 33618402A> C null K Q 96 96 missense 0.007 benign 0.19 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs376993937 9p13.3 9 33618418C> T null P L 101 101 missense 0.173 benign 0.15 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs749799245 9p13.3 9 33618420A> G null I V 102 102 missense 0.042 benign 0.1 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed rs1396796737 9p13.3 9 33618424A> C null N T 103 103 missense 0.149 benign 0.14 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1424522512 9p13.3 9 33618430C> T null P L 105 105 missense 0.107 benign 0.05 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1189423054 9p13.3 9 33618429C> T null P S 105 105 missense 0.661 possibly damaging 0.02 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1429236500 9p13.3 9 33618436T> C null L P 107 107 missense 0.957 probably damaging 0.09 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1214420203 9p13.3 9 33618438A> C null T P 108 108 missense 0.905 possibly damaging 0.04 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC rs769188378 9p13.3 9 33618447G> A null A T 111 111 missense 0.001 benign 1.0 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs774723264 9p13.3 9 33618451T> C null L P 112 112 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs190329158 9p13.3 9 33618459A> G null T A 115 115 0.006789 missense 0.26 benign 0.09 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1304056780 9p13.3 9 33618460C> A null T N 115 115 missense 0.824 possibly damaging 0.27 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs966447 9p13.3 9 33618462A> T null S C 116 116 0.4289 missense 0.902 possibly damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs773479048 9p13.3 9 33618463G> A null S N 116 116 missense 0.015 benign 1.0 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs966447 9p13.3 9 33618462A> C null S R 116 116 0.4289 missense 0.06 benign 0.04 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1366254124 9p13.3 9 33618466C> A null A D 117 117 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1274831984 9p13.3 9 33618465G> T null A S 117 117 missense 0.258 benign 0.07 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1214718572 9p13.3 9 33618468C> T null H Y 118 118 missense 0.046 benign 0.04 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1339566364 9p13.3 9 33618471C> T null P S 119 119 missense 0.082 benign 0.33 tolerated 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1292181084 9p13.3 9 33618489T> A null Y N 125 125 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,gnomAD rs753927955 9p13.3 9 33618490A> C null Y S 125 125 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) gnomAD rs1246121112 9p13.3 9 33618496G> A null C Y 127 127 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs765225185 9p13.3 9 33618498A> T null S C 128 128 missense 0.868 possibly damaging 0.04 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs2380835 9p13.3 9 33618499G> A null S N 128 128 0.4275 missense 0.133 benign 0.02 deleterious 0 A0A075B6H5 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) (Fragment) TOPMed,gnomAD rs1388402880 9p13.3 9 33618501G> A null A T 129 129 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs747300060 2p11.2 2 88978974G> A null P L 4 4 missense 0.93 probably damaging 0.16 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs372426057 2p11.2 2 88978972C> T null A T 5 5 missense 0.019 benign 0.32 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,NCI-TCGA,TOPMed,gnomAD rs758880904 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978971G> A null A V 5 5 missense 0.028 benign 0.09 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1431316922 2p11.2 2 88978967C> G null Q H 6 6 missense 0.388 benign 0.05 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs754986644 2p11.2 2 88978968T> G null Q P 6 6 missense 0.958 probably damaging 0.05 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed rs1203369765 2p11.2 2 88978966G> A null L F 7 7 missense 0.229 benign 0.15 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs377208970 2p11.2 2 88978954G> T null L M 11 11 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1187840344 2p11.2 2 88978953A> G null L P 11 11 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed rs1489188705 2p11.2 2 88978948G> T null L I 13 13 missense 0.895 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1267844877 2p11.2 2 88978943C> T null W * 14 14 stop gained 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs201631293 2p11.2 2 88978942G> A null L F 15 15 missense 0.07 benign 0.15 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1264275896 2p11.2 2 88978938G> C null P R 16 16 missense 0.949 probably damaging 0.03 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,NCI-TCGA,gnomAD rs775561089 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978936C> T null D N 17 17 missense 0.048 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,TOPMed,gnomAD rs577404870 2p11.2 2 88978764T> C null T A 18 18 2.0E-4 missense 0.012 benign 0.73 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs758147342 2p11.2 2 88978763G> A null T I 18 18 missense 0.02 benign 0.05 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs758147342 2p11.2 2 88978763G> T null T N 18 18 missense 0.492 possibly damaging 0.03 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,TOPMed,gnomAD rs577404870 2p11.2 2 88978764T> G null T P 18 18 2.0E-4 missense 0.652 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1338533595 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978761T> C null T A 19 19 missense 0.005 benign 0.55 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,gnomAD rs552795443 2p11.2 2 88978760G> A null T I 19 19 2.0E-4 missense 0.02 benign 0.3 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,gnomAD rs552795443 2p11.2 2 88978760G> C null T S 19 19 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1369325888 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978758T> C null R G 20 20 missense 0.0 benign 1.0 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1305652461 2p11.2 2 88978757C> T null R K 20 20 missense 0.04 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,gnomAD rs573607635 2p11.2 2 88978755C> G null E Q 21 21 2.0E-4 missense 0.025 benign 0.11 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs765814474 2p11.2 2 88978750A> C null I M 22 22 missense 0.756 possibly damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs753826703 2p11.2 2 88978751A> G null I T 22 22 missense 0.062 benign 0.08 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs760175670 2p11.2 2 88978749C> T null V I 23 23 missense 0.211 benign 0.04 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,TOPMed,gnomAD rs555315741 2p11.2 2 88978744C> T null M I 24 24 2.0E-4 missense 0.091 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs774745396 2p11.2 2 88978746T> A null M L 24 24 missense 0.01 benign 0.68 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181802934 2p11.2 2 88978743T> C null T A 25 25 0.003195 missense 0.606 possibly damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs374342362 2p11.2 2 88978740G> C null Q E 26 26 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs374342362 2p11.2 2 88978740G> T null Q K 26 26 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs745909329 2p11.2 2 88978739T> A null Q L 26 26 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1262275266 2p11.2 2 88978736G> A null S F 27 27 missense 0.675 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs757605163 2p11.2 2 88978731G> C null P A 29 29 missense 0.0 benign 1.0 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs200739252 2p11.2 2 88978730G> A null P L 29 29 missense 0.0 benign 0.27 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs757605163 2p11.2 2 88978731G> A null P S 29 29 missense 0.0 benign 0.69 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs549955639 2p11.2 2 88978727G> T null T N 30 30 missense 0.058 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs778922167 2p11.2 2 88978728T> G null T P 30 30 missense 0.757 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1403251198 2p11.2 2 88978724A> T null L Q 31 31 missense 0.732 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs753841084 2p11.2 2 88978725G> C null L V 31 31 missense 0.222 benign 0.07 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,NCI-TCGA,gnomAD rs766291549 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978721G> A null S F 32 32 missense 0.058 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs755613082 2p11.2 2 88978718A> C null L W 33 33 missense 0.861 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed,gnomAD rs1410358347 2p11.2 2 88978715G> A null S F 34 34 missense 0.29 benign 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1457139741 2p11.2 2 88978716A> G null S P 34 34 missense 0.211 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed,gnomAD rs1410358347 2p11.2 2 88978715G> T null S Y 34 34 missense 0.485 possibly damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1246267510 2p11.2 2 88978709C> T null G E 36 36 missense 0.48 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs766913369 2p11.2 2 88978707C> A null E * 37 37 stop gained 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1286022554 2p11.2 2 88978706T> G null E A 37 37 missense 0.918 probably damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs766913369 2p11.2 2 88978707C> T null E K 37 37 missense 0.506 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1209150823 2p11.2 2 88978702T> G null R S 38 38 missense 0.046 benign 0.09 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ESP,TOPMed,gnomAD rs2458828 2p11.2 2 88978700A> G null V A 39 39 0.02017 missense 0.056 benign 0.42 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed,gnomAD rs960643616 2p11.2 2 88978698T> C null T A 40 40 missense 0.286 benign 0.02 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1266140474 2p11.2 2 88978697G> T null T N 40 40 missense 0.597 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed rs1202754776 2p11.2 2 88978695G> A null L F 41 41 missense 0.086 benign 0.02 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs761509945 2p11.2 2 88978691G> A null S F 42 42 missense 0.258 benign 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs763242698 2p11.2 2 88978687G> T null C * 43 43 stop gained 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs764445837 2p11.2 2 88978688C> A null C F 43 43 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs773988188 2p11.2 2 88978689A> G null C R 43 43 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs763242698 2p11.2 2 88978687G> C null C W 43 43 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs764445837 2p11.2 2 88978688C> T null C Y 43 43 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1386984156 2p11.2 2 88978686T> C null R G 44 44 missense 0.134 benign 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs770293161 2p11.2 2 88978685C> T null R K 44 44 missense 0.017 benign 0.98 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs770293161 2p11.2 2 88978685C> A null R M 44 44 missense 0.635 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376449387 2p11.2 2 88978682G> C null A G 45 45 5.99E-4 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376449387 2p11.2 2 88978682G> A null A V 45 45 5.99E-4 missense 0.406 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1170916648 2p11.2 2 88978680T> A null S C 46 46 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1248844109 2p11.2 2 88978678A> C null S R 46 46 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1476488523 2p11.2 2 88978679C> G null S T 46 46 missense 0.872 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1188218611 2p11.2 2 88978675C> G null Q H 47 47 missense 0.284 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC rs771133558 2p11.2 2 88978673C> T null S N 48 48 missense 0.099 benign 0.17 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1464261376 2p11.2 2 88978672A> T null S R 48 48 missense 0.29 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs747243423 2p11.2 2 88978671C> T null V I 49 49 missense 0.061 benign 0.74 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs747243423 2p11.2 2 88978671C> G null V L 49 49 missense 0.061 benign 0.58 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1205425142 2p11.2 2 88978668T> C null S G 50 50 missense 0.037 benign 0.63 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs778087815 2p11.2 2 88978667C> T null S N 50 50 missense 0.086 benign 0.26 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs749071305 2p11.2 2 88978664C> T null S N 51 51 missense 0.01 benign 1.0 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs779684674 2p11.2 2 88978663G> C null S R 51 51 missense 0.039 benign 0.02 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs756124362 2p11.2 2 88978662T> C null S G 52 52 missense 0.014 benign 0.03 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs369120313 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978661C> A null S I 52 52 missense 0.097 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs369120313 2p11.2 2 88978661C> T null S N 52 52 missense 0.003 benign 0.83 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed,gnomAD rs1363385270 2p11.2 2 88978660G> C null S R 52 52 missense 0.033 benign 0.08 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs369120313 2p11.2 2 88978661C> G null S T 52 52 missense 0.014 benign 0.54 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs756689228 2p11.2 2 88978658T> C null Y C 53 53 missense 0.864 possibly damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs756689228 2p11.2 2 88978658T> G null Y S 53 53 missense 0.062 benign 0.02 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs763336451 2p11.2 2 88978655A> T null L * 54 54 stop gained 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs763336451 2p11.2 2 88978655A> G null L S 54 54 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs765509230 2p11.2 2 88978652G> A null T I 55 55 missense 0.075 benign 0.2 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs2458829 2p11.2 2 88978653T> A null T S 55 55 missense 0.005 benign 0.68 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs765509230 2p11.2 2 88978652G> C null T S 55 55 missense 0.005 benign 0.68 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1183415807 2p11.2 2 88978648C> T null W * 56 56 stop gained 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed,gnomAD rs1388041711 2p11.2 2 88978649C> T null W * 56 56 stop gained 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1183415807 2p11.2 2 88978648C> G null W C 56 56 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed,gnomAD rs1388041711 2p11.2 2 88978649C> A null W L 56 56 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1447907227 2p11.2 2 88978650A> G null W R 56 56 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs776939922 2p11.2 2 88978646T> C null Y C 57 57 missense 0.924 probably damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs776939922 2p11.2 2 88978646T> A null Y F 57 57 missense 0.696 possibly damaging 0.08 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs776939922 2p11.2 2 88978646T> G null Y S 57 57 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,gnomAD rs566232593 2p11.2 2 88978639C> G null Q H 59 59 2.0E-4 missense 0.393 benign 0.05 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1236811997 2p11.2 2 88978640T> C null Q R 59 59 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs760789443 2p11.2 2 88978638T> G null K Q 60 60 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,gnomAD rs548022362 2p11.2 2 88978637T> G null K T 60 60 2.0E-4 missense 0.858 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs772465365 2p11.2 2 88978634G> A null P L 61 61 missense 0.379 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs772465365 2p11.2 2 88978634G> C null P R 61 61 missense 0.379 benign 0.02 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1203922869 2p11.2 2 88978635G> A null P S 61 61 missense 0.299 benign 0.05 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1317563729 2p11.2 2 88978631C> T null G D 62 62 missense 0.47 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1317563729 2p11.2 2 88978631C> A null G V 62 62 missense 0.844 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1378959618 2p11.2 2 88978628T> G null Q P 63 63 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1282927500 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978626C> T null A T 64 64 missense 0.097 benign 0.03 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369766180 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978625G> A null A V 64 64 3.99E-4 missense 0.092 benign 0.07 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs756778840 2p11.2 2 88978623G> T null P T 65 65 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs751026386 2p11.2 2 88978620T> A null R W 66 66 missense 0.262 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs758115263 2p11.2 2 88978617G> A null L F 67 67 missense 0.498 possibly damaging 0.02 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs758115263 2p11.2 2 88978617G> T null L I 67 67 missense 0.29 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs752291079 2p11.2 2 88978616A> G null L P 67 67 missense 0.29 benign 0.02 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs754395040 2p11.2 2 88978609G> C null I M 69 69 missense 0.812 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs759765665 2p11.2 2 88978610A> G null I T 69 69 missense 0.911 probably damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1180865594 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978607T> C null Y C 70 70 missense 0.462 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs766953439 2p11.2 2 88978604C> T null G D 71 71 missense 0.006 benign 0.36 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs766953439 2p11.2 2 88978604C> A null G V 71 71 missense 0.11 benign 0.45 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs761233628 2p11.2 2 88978601G> C null A G 72 72 missense 0.284 benign 0.04 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs761233628 2p11.2 2 88978601G> A null A V 72 72 missense 0.284 benign 0.17 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs772264132 2p11.2 2 88978598G> A null S F 73 73 missense 0.694 possibly damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs371772134 2p11.2 2 88978599A> T null S T 73 73 missense 0.408 benign 0.11 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs762160101 2p11.2 2 88978595G> T null T N 74 74 missense 0.003 benign 1.0 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs762160101 2p11.2 2 88978595G> C null T S 74 74 missense 0.007 benign 0.71 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs774369509 2p11.2 2 88978591C> A null R S 75 75 missense 0.422 benign 0.1 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs745597854 2p11.2 2 88978589G> T null A D 76 76 missense 0.036 benign 0.28 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs769644094 2p11.2 2 88978590C> T null A T 76 76 missense 0.058 benign 0.42 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs770893013 2p11.2 2 88978586G> T null T N 77 77 missense 0.13 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs189211039 2p11.2 2 88978587T> A null T S 77 77 0.003594 missense 0.027 benign 1.0 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,TOPMed,gnomAD rs144594870 2p11.2 2 88978584T> A null S C 78 78 0.2624 missense 0.659 possibly damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,TOPMed,gnomAD rs144594870 2p11.2 2 88978584T> C null S G 78 78 0.2624 missense 0.0 benign 1.0 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs777333915 2p11.2 2 88978583C> A null S I 78 78 missense 0.075 benign 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs777333915 2p11.2 2 88978583C> T null S N 78 78 missense 0.12 benign 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs747854618 2p11.2 2 88978580A> T null I N 79 79 missense 0.43 benign 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs755402947 2p11.2 2 88978577G> A null P L 80 80 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs755402947 2p11.2 2 88978577G> T null P Q 80 80 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1181423300 2p11.2 2 88978578G> A null P S 80 80 missense 0.796 possibly damaging 0.03 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs754295680 2p11.2 2 88978574G> T null A D 81 81 missense 0.007 benign 1.0 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed rs979610494 2p11.2 2 88978569A> T null F I 83 83 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed rs1165003204 2p11.2 2 88978568A> G null F S 83 83 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs766830608 2p11.2 2 88978566T> C null S G 84 84 missense 0.379 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1487968536 2p11.2 2 88978565C> T null S N 84 84 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs374642140 2p11.2 2 88978562C> G null G A 85 85 missense 0.935 probably damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs374642140 2p11.2 2 88978562C> T null G D 85 85 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs756744883 2p11.2 2 88978563C> G null G R 85 85 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,TOPMed,gnomAD rs374642140 2p11.2 2 88978562C> A null G V 85 85 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs761741875 2p11.2 2 88978560T> A null S C 86 86 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1313959244 2p11.2 2 88978556C> G null G A 87 87 missense 0.892 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed rs1423389013 2p11.2 2 88978557C> G null G R 87 87 missense 0.92 probably damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs763200354 2p11.2 2 88978554A> C null S A 88 88 missense 0.483 possibly damaging 0.04 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1290893636 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978550C> T null G E 89 89 missense 0.584 possibly damaging 0.02 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed,gnomAD rs1365794145 2p11.2 2 88978551C> T null G R 89 89 missense 0.584 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs776456700 2p11.2 2 88978548T> C null T A 90 90 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,TOPMed,gnomAD rs564543958 2p11.2 2 88978547G> T null T K 90 90 2.0E-4 missense 0.912 probably damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,TOPMed,gnomAD rs564543958 2p11.2 2 88978547G> C null T R 90 90 2.0E-4 missense 0.857 possibly damaging 0.02 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs771638124 2p11.2 2 88978543G> C null D E 91 91 missense 0.282 benign 0.1 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs773078268 2p11.2 2 88978544T> C null D G 91 91 missense 0.282 benign 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs778455412 2p11.2 2 88978542A> T null F I 92 92 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs778455412 2p11.2 2 88978542A> G null F L 92 92 missense 0.916 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs748936111 2p11.2 2 88978530T> A null I F 96 96 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1190180409 2p11.2 2 88978529A> C null I S 96 96 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed,gnomAD rs1247807567 2p11.2 2 88978520A> T null L Q 99 99 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,TOPMed,gnomAD rs750980750 2p11.2 2 88978518G> C null Q E 100 100 missense 0.007 benign 1.0 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs757384953 2p11.2 2 88978515G> A null P S 101 101 missense 0.028 benign 0.16 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,NCI-TCGA,gnomAD rs545887714 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2p11.2 2 88978512C> A null E * 102 102 2.0E-4 stop gained 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 1000Genomes,ExAC,gnomAD rs545887714 2p11.2 2 88978512C> G null E Q 102 102 2.0E-4 missense 0.823 possibly damaging 0.01 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC rs763216476 2p11.2 2 88978509C> A null D Y 103 103 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,NCI-TCGA,gnomAD rs775625218 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978506A> C null F V 104 104 missense 0.003 benign 0.88 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC rs766177660 2p11.2 2 88978500C> G null V L 106 106 missense 0.058 benign 0.21 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed rs1257293800 2p11.2 2 88978494A> T null Y N 108 108 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ExAC,gnomAD rs773169946 2p11.2 2 88978490C> A null C F 109 109 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed,gnomAD rs1303408606 2p11.2 2 88978488G> A null Q * 110 110 stop gained 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed,gnomAD rs1303408606 2p11.2 2 88978488G> T null Q K 110 110 missense 0.097 benign 0.04 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1485972905 2p11.2 2 88978487T> C null Q R 110 110 missense 0.638 possibly damaging 0.02 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 TOPMed,gnomAD rs1285198348 2p11.2 2 88978484T> C null Q R 111 111 missense 0.196 benign 0.02 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1357000558 2p11.2 2 88978477A> T null Y * 113 113 stop gained 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368072677 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 88978478T> C null Y C 113 113 missense 0.722 possibly damaging 0.07 tolerated 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1170028670 2p11.2 2 88978475T> A null N I 114 114 missense 0.025 benign 0.04 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1449715999 2p11.2 2 88978470G> C null P A 116 116 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H7 IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 gnomAD rs1389889876 2p11.2 2 88978469G> T null P H 116 116 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,NCI-TCGA,gnomAD rs775342781 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190221G> A null M I 3 3 missense 0.109 benign 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs759037001 2p11.2 2 90190219A> T null M L 3 3 missense 0.109 benign 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs759037001 2p11.2 2 90190219A> G null M V 3 3 missense 0.109 benign 0.03 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs762770574 2p11.2 2 90190223G> A null R K 4 4 missense 0.089 benign 0.06 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs763749261 2p11.2 2 90190224G> T null R S 4 4 missense 0.216 benign 0.05 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs751347462 2p11.2 2 90190225G> T null V F 5 5 missense 0.048 benign 0.14 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs754028187 2p11.2 2 90190229C> T null P L 6 6 missense 0.324 benign 0.06 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs766618709 2p11.2 2 90190228C> T null P S 6 6 missense 0.455 possibly damaging 0.05 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs193096486 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190231G> C null A P 7 7 missense 0.856 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs193096486 2p11.2 2 90190231G> A null A T 7 7 missense 0.019 benign 0.5 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs748623193 2p11.2 2 90190237C> A null L I 9 9 missense 0.455 possibly damaging 0.03 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs748623193 2p11.2 2 90190237C> G null L V 9 9 missense 0.455 possibly damaging 0.13 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs201243538 2p11.2 2 90190244G> A null G E 11 11 missense 0.635 possibly damaging 0.05 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes rs547248578 2p11.2 2 90190253T> G null L R 14 14 2.0E-4 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs776293706 2p11.2 2 90190255C> T null L F 15 15 missense 0.632 possibly damaging 0.08 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs775430748 2p11.2 2 90190259G> A null W * 16 16 stop gained 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1272998933 2p11.2 2 90190260G> T null W C 16 16 missense 0.109 benign 0.08 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs769255599 2p11.2 2 90190258T> C null W R 16 16 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1295336630 2p11.2 2 90190384G> A null G D 19 19 missense 0.229 benign 0.11 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs768607844 2p11.2 2 90190267G> A null G S 19 19 missense 0.341 benign 0.04 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1264545976 2p11.2 2 90190396A> T null D V 23 23 missense 0.64 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ExAC,gnomAD rs139321345 2p11.2 2 90190395G> T null D Y 23 23 5.99E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1334600742 2p11.2 2 90190398A> C null I L 24 24 missense 0.324 benign 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs748067626 2p11.2 2 90190399T> A null I N 24 24 missense 0.745 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ExAC,TOPMed,gnomAD rs187553890 2p11.2 2 90190401C> T null Q * 25 25 2.0E-4 stop gained 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs842173 2p11.2 2 90190408C> T null T I 27 27 0.2356 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs746791812 2p11.2 2 90190412G> C null Q H 28 28 missense 0.808 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs1455648557 2p11.2 2 90190414C> T null S F 29 29 missense 0.628 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145538558 2p11.2 2 90190413T> C null S P 29 29 0.01158 missense 0.423 benign 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ESP,ExAC,TOPMed,gnomAD rs371270935 2p11.2 2 90190420C> T null S F 31 31 missense 0.388 benign 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1397969524 2p11.2 2 90190429C> G null S C 34 34 missense 0.628 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs1485745887 2p11.2 2 90190428T> C null S P 34 34 missense 0.227 benign 0.11 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs762423863 2p11.2 2 90190432C> A null A E 35 35 missense 0.592 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs762423863 2p11.2 2 90190432C> T null A V 35 35 missense 0.175 benign 0.35 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs750845460 2p11.2 2 90190434T> A null S T 36 36 missense 0.623 possibly damaging 0.08 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1393851414 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190435C> A null S Y 36 36 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ExAC,TOPMed,gnomAD rs147724164 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2p11.2 2 90190440G> T null G * 38 38 0.001997 stop gained 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ExAC,TOPMed,gnomAD rs147724164 2p11.2 2 90190440G> A null G R 38 38 0.001997 missense 0.632 possibly damaging 0.03 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs753487666 2p11.2 2 90190447G> A null R K 40 40 missense 0.026 benign 0.14 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs778532827 2p11.2 2 90190450T> C null V A 41 41 missense 0.529 possibly damaging 0.08 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200272185 2p11.2 2 90190449G> A null V I 41 41 7.99E-4 missense 0.662 possibly damaging 0.04 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs747577995 2p11.2 2 90190452A> T null S C 42 42 missense 0.777 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs1297269971 2p11.2 2 90190459T> C null I T 44 44 missense 0.0 benign 1.0 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192596253 2p11.2 2 90190462G> T null C F 45 45 0.001198 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs758474037 2p11.2 2 90190461T> C null C R 45 45 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192596253 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190462G> C null C S 45 45 0.001198 missense 0.846 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192596253 2p11.2 2 90190462G> A null C Y 45 45 0.001198 missense 0.749 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ExAC,gnomAD rs562767220 2p11.2 2 90190466G> A null W * 46 46 2.0E-4 stop gained 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs746809968 2p11.2 2 90190464T> C null W R 46 46 missense 0.0 benign 1.0 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1356278558 2p11.2 2 90190468C> A null A E 47 47 missense 0.583 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1171046738 2p11.2 2 90190467G> A null A T 47 47 missense 0.533 possibly damaging 0.05 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs765877556 2p11.2 2 90190471G> A null S N 48 48 missense 0.705 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs765877556 2p11.2 2 90190471G> C null S T 48 48 missense 0.749 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 Ensembl rs961558718 2p11.2 2 90190474A> C null E A 49 49 missense 0.155 benign 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ESP,ExAC,TOPMed,gnomAD rs372191072 2p11.2 2 90190475G> T null E D 49 49 missense 0.155 benign 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,NCI-TCGA,TOPMed,gnomAD rs749575888 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190476G> T null G C 50 50 missense 0.92 probably damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ESP,ExAC,TOPMed,gnomAD rs376506052 2p11.2 2 90190477G> A null G D 50 50 missense 0.018 benign 0.7 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs749575888 2p11.2 2 90190476G> A null G S 50 50 missense 0.031 benign 1.0 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ESP,ExAC,TOPMed,gnomAD rs376506052 2p11.2 2 90190477G> T null G V 50 50 missense 0.194 benign 0.03 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ESP rs369441401 2p11.2 2 90190493A> T null L F 55 55 missense 0.798 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs995493994 2p11.2 2 90190492T> C null L S 55 55 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1275953788 2p11.2 2 90190494G> A null A T 56 56 missense 0.116 benign 0.32 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs761785238 2p11.2 2 90190499G> A null W * 57 57 stop gained 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs761785238 2p11.2 2 90190499G> T null W C 57 57 missense 0.962 probably damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs768026335 2p11.2 2 90190502T> G null Y * 58 58 stop gained 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs1025629917 2p11.2 2 90190501A> G null Y C 58 58 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs1280226679 2p11.2 2 90190504T> A null L Q 59 59 missense 0.0 benign 1.0 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1309783089 2p11.2 2 90190510A> C null K T 61 61 missense 0.455 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs773642701 2p11.2 2 90190513C> T null P L 62 62 missense 0.5 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs1342177063 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190515G> A null G R 63 63 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,NCI-TCGA,gnomAD rs761056614 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190522C> T null S F 65 65 missense 0.458 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs766680698 2p11.2 2 90190525C> T null P L 66 66 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ExAC,TOPMed,gnomAD rs529677239 2p11.2 2 90190530C> A null L I 68 68 2.0E-4 missense 0.85 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ExAC,TOPMed,gnomAD rs529677239 2p11.2 2 90190530C> G null L V 68 68 2.0E-4 missense 0.488 possibly damaging 0.03 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs1325669353 2p11.2 2 90190534T> C null F S 69 69 missense 0.18 benign 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs372852316 2p11.2 2 90190540A> T null Y F 71 71 missense 0.166 benign 0.03 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1186895034 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190542G> A null D N 72 72 missense 0.012 benign 0.37 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs1312199766 2p11.2 2 90190548A> G null K E 74 74 missense 0.044 benign 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,NCI-TCGA,TOPMed,gnomAD rs752306072 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190550A> C null K N 74 74 missense 0.001 benign 0.09 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs1398656510 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190551G> T null D Y 75 75 missense 0.0 benign 0.09 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1308363963 2p11.2 2 90190556G> T null L F 76 76 missense 0.562 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1172431715 2p11.2 2 90190554T> G null L V 76 76 missense 0.69 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs757918034 2p11.2 2 90190561C> G null P R 78 78 missense 0.005 benign 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,NCI-TCGA,gnomAD rs777892802 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190566G> A null V I 80 80 missense 0.164 benign 0.14 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1344304568 2p11.2 2 90190569T> C null S P 81 81 missense 0.0 benign 1.0 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs757241359 2p11.2 2 90190573C> A null S * 82 82 stop gained 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,NCI-TCGA,TOPMed,gnomAD rs757241359 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190573C> T null S L 82 82 missense 0.324 benign 0.03 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1236171025 2p11.2 2 90190572T> C null S P 82 82 missense 0.324 benign 0.03 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs757241359 2p11.2 2 90190573C> G null S W 82 82 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs768981761 2p11.2 2 90190576G> T null R M 83 83 missense 0.579 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs1421717963 2p11.2 2 90190577G> T null R S 83 83 missense 0.496 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1303384507 2p11.2 2 90190580C> A null F L 84 84 missense 0.529 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs778945539 2p11.2 2 90190582G> C null S T 85 85 missense 0.678 possibly damaging 0.07 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs748229933 2p11.2 2 90190585G> A null G D 86 86 missense 0.905 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,NCI-TCGA,TOPMed,gnomAD rs748229933 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190585G> T null G V 86 86 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs773728663 2p11.2 2 90190589G> T null R S 87 87 missense 0.0 benign 1.0 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1243665864 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190591G> A null G E 88 88 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1216180803 2p11.2 2 90190590G> A null G R 88 88 missense 0.632 possibly damaging 0.05 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1243665864 2p11.2 2 90190591G> T null G V 88 88 missense 0.749 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ExAC,gnomAD rs541835357 2p11.2 2 90190594C> G null S C 89 89 2.0E-4 missense 0.505 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs771308510 2p11.2 2 90190593T> A null S T 89 89 missense 0.56 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ExAC,gnomAD rs541835357 2p11.2 2 90190594C> A null S Y 89 89 2.0E-4 missense 0.324 benign 0.04 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ESP,ExAC,TOPMed,gnomAD rs373152799 2p11.2 2 90190596G> T null G W 90 90 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs752254641 2p11.2 2 90190599A> G null T A 91 91 missense 0.397 benign 0.04 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377356546 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190600C> T null T M 91 91 2.0E-4 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1347301743 2p11.2 2 90190603A> G null D G 92 92 missense 0.331 benign 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1439238393 2p11.2 2 90190605T> A null F I 93 93 missense 0.635 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1041363610 2p11.2 2 90190609C> G null T S 94 94 missense 0.662 possibly damaging 0.3 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1372368034 2p11.2 2 90190617A> C null I L 97 97 missense 0.529 possibly damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184070665 2p11.2 2 90190619C> G null I M 97 97 9.98E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1372368034 2p11.2 2 90190617A> G null I V 97 97 missense 0.662 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1177482795 2p11.2 2 90190620A> G null I V 98 98 missense 0.003 benign 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,ExAC,TOPMed,gnomAD rs188365115 2p11.2 2 90190625C> A null S R 99 99 2.0E-4 missense 0.388 benign 0.07 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1350177469 2p11.2 2 90190631G> T null K N 101 101 missense 0.015 benign 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,TOPMed,gnomAD rs750246609 2p11.2 2 90190633C> T null P L 102 102 missense 0.168 benign 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1224511494 2p11.2 2 90190632C> T null P S 102 102 missense 0.259 benign 0.2 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1224511494 2p11.2 2 90190632C> A null P T 102 102 missense 0.259 benign 0.07 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs369802756 2p11.2 2 90190635G> A null E K 103 103 missense 0.56 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1212907325 2p11.2 2 90190640T> G null D E 104 104 missense 0.529 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 1000Genomes,TOPMed rs181576535 2p11.2 2 90190639A> T null D V 104 104 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs779226787 2p11.2 2 90190645C> A null A E 106 106 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed rs1417524438 2p11.2 2 90190644G> T null A S 106 106 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs779226787 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190645C> T null A V 106 106 missense 0.537 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ESP,ExAC,gnomAD rs370791303 2p11.2 2 90190647G> A null A T 107 107 missense 0.001 benign 1.0 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs772258544 2p11.2 2 90190651A> G null Y C 108 108 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs768729562 2p11.2 2 90190657G> T null C F 110 110 missense 0.798 possibly damaging 0.02 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs777868547 2p11.2 2 90190656T> A null C S 110 110 missense 0.749 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs768729562 2p11.2 2 90190657G> C null C S 110 110 missense 0.749 possibly damaging 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1411270273 2p11.2 2 90190662C> T null Q * 112 112 stop gained 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 gnomAD rs1411270273 2p11.2 2 90190662C> A null Q K 112 112 missense 0.229 benign 0.01 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,NCI-TCGA,gnomAD rs747084673 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90190665G> T null D Y 113 113 missense 0.001 benign 1.0 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs776941815 2p11.2 2 90190672G> T null S I 115 115 missense 0.116 benign 0.03 deleterious 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs776941815 2p11.2 2 90190672G> A null S N 115 115 missense 0.03 benign 0.28 tolerated 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 ExAC,gnomAD rs759979801 2p11.2 2 90190676C> A null Y * 116 116 stop gained 0 A0A075B6H8 IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 TOPMed,gnomAD rs1327483563 2p11.2 2 90190678C> T null P L 117 117 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed,gnomAD rs1401566726 22q11.22 22 22030997G> T null A S 2 2 missense 0.934 probably damaging 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed rs117052129 22q11.22 22 22031001G> A null W * 3 3 0.01717 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1362840700 22q11.22 22 22031003A> G null T A 4 4 missense 0.871 possibly damaging 0.42 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed,gnomAD rs1293492310 22q11.22 22 22031007C> T null P L 5 5 missense 0.0 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes rs571295810 22q11.22 22 22031010T> C null L P 6 6 2.0E-4 missense 0.511 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1246842021 22q11.22 22 22031012C> A null L I 7 7 missense 0.111 benign 0.06 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs778427118 22q11.22 22 22031015T> C null F L 8 8 missense 0.0 benign 1.0 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs757694101 22q11.22 22 22031027C> T null L F 12 12 missense 0.97 probably damaging 0.09 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,TOPMed,gnomAD rs537047684 22q11.22 22 22031028T> C null L P 12 12 2.0E-4 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,TOPMed,gnomAD rs537047684 22q11.22 22 22031028T> G null L R 12 12 2.0E-4 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1257625059 22q11.22 22 22031030C> T null L F 13 13 missense 0.027 benign 0.7 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed rs1262961279 22q11.22 22 22031031T> A null L H 13 13 missense 0.182 benign 0.5 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed,gnomAD rs751492173 22q11.22 22 22031036T> C null C R 15 15 missense 0.957 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1383242104 22q11.22 22 22031039A> G null T A 16 16 missense 0.871 possibly damaging 0.06 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs370287293 22q11.22 22 22031163G> A null G E 17 17 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs536862772 22q11.22 22 22031042G> A null G R 17 17 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed rs1297655391 22q11.22 22 22031166C> G null S C 18 18 missense 0.967 probably damaging 0.05 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs758467099 22q11.22 22 22031165T> A null S T 18 18 missense 0.807 possibly damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs367927892 22q11.22 22 22031168C> T null L F 19 19 missense 0.97 probably damaging 0.26 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs367927892 22q11.22 22 22031168C> G null L V 19 19 missense 0.902 possibly damaging 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed,gnomAD rs963516114 22q11.22 22 22031172C> G null S C 20 20 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed,gnomAD rs963516114 22q11.22 22 22031172C> T null S F 20 20 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes rs536503054 22q11.22 22 22031171T> C null S P 20 20 2.0E-4 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,gnomAD rs372152625 22q11.22 22 22031176G> C null Q H 21 21 3.99E-4 missense 0.71 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1223737939 22q11.22 22 22031175A> T null Q L 21 21 missense 0.989 probably damaging 0.06 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,gnomAD rs374194019 22q11.22 22 22031177C> T null L F 22 22 missense 0.003 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,gnomAD rs374194019 22q11.22 22 22031177C> A null L I 22 22 missense 0.01 benign 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs573212212 22q11.22 22 22031178T> C null L P 22 22 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,gnomAD rs374194019 22q11.22 22 22031177C> G null L V 22 22 missense 0.003 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs545218509 22q11.22 22 22031181T> C null V A 23 23 3.99E-4 missense 0.164 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs773651964 22q11.22 22 22031180G> C null V L 23 23 missense 0.455 possibly damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs773651964 22q11.22 22 22031180G> A null V M 23 23 missense 0.722 possibly damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,gnomAD rs372020443 22q11.22 22 22031184T> C null L P 24 24 2.0E-4 missense 0.457 possibly damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,gnomAD rs372020443 22q11.22 22 22031184T> G null L R 24 24 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs755291178 22q11.22 22 22031183C> G null L V 24 24 missense 0.472 possibly damaging 0.18 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs578035447 22q11.22 22 22031191A> C null Q H 26 26 3.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs375384628 22q11.22 22 22031193C> T null S L 27 27 missense 0.003 benign 0.14 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,NCI-TCGA,gnomAD rs543576148 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031192T> C null S P 27 27 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs543576148 22q11.22 22 22031192T> A null S T 27 27 2.0E-4 missense 0.023 benign 0.1 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs375384628 22q11.22 22 22031193C> G null S W 27 27 missense 0.824 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs370550551 22q11.22 22 22031196C> T null P L 28 28 2.0E-4 missense 0.158 benign 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs749124942 22q11.22 22 22031195C> T null P S 28 28 missense 0.103 benign 0.1 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs747825956 22q11.22 22 22031198T> G null S A 29 29 missense 0.834 possibly damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1286169126 22q11.22 22 22031208C> T null A V 32 32 missense 0.172 benign 0.21 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed rs919135815 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031211C> T null S F 33 33 missense 0.659 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs531916199 22q11.22 22 22031214T> C null L P 34 34 missense 0.0 benign 0.29 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs531916199 22q11.22 22 22031214T> A null L Q 34 34 missense 0.111 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 Ensembl,NCI-TCGA rs767795299 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031217G> A null G E 35 35 missense 0.922 probably damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs150132122 22q11.22 22 22031220C> A null A D 36 36 missense 0.062 benign 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs150132122 22q11.22 22 22031220C> G null A G 36 36 missense 0.097 benign 0.05 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs542655920 22q11.22 22 22031219G> C null A P 36 36 3.99E-4 missense 0.856 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs150132122 22q11.22 22 22031220C> T null A V 36 36 missense 0.255 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed,gnomAD rs1424657229 22q11.22 22 22031223C> T null S L 37 37 missense 0.218 benign 0.1 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs528788781 22q11.22 22 22031226T> A null V D 38 38 2.0E-4 missense 0.116 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs528788781 22q11.22 22 22031226T> G null V G 38 38 2.0E-4 missense 0.383 benign 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs752926889 22q11.22 22 22031225G> A null V I 38 38 missense 0.127 benign 0.13 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs193263811 22q11.22 22 22031230G> C null K N 39 39 7.99E-4 missense 0.059 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs546553527 22q11.22 22 22031229A> G null K R 39 39 2.0E-4 missense 0.009 benign 0.81 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs546553527 22q11.22 22 22031229A> C null K T 39 39 2.0E-4 missense 0.103 benign 0.18 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,gnomAD rs369213401 22q11.22 22 22031231C> T null L F 40 40 2.0E-4 missense 0.455 possibly damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,gnomAD rs369213401 22q11.22 22 22031231C> G null L V 40 40 2.0E-4 missense 0.606 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,gnomAD rs373292484 22q11.22 22 22031235C> T null T I 41 41 missense 0.626 possibly damaging 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs747796305 22q11.22 22 22031234A> T null T S 41 41 missense 0.289 benign 0.29 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376599493 22q11.22 22 22031237T> G null C G 42 42 5.99E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376599493 22q11.22 22 22031237T> C null C R 42 42 5.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1262251436 22q11.22 22 22031238G> C null C S 42 42 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs777139432 22q11.22 22 22031239C> G null C W 42 42 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1262251436 22q11.22 22 22031238G> A null C Y 42 42 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs536244483 22q11.22 22 22031241C> T null T I 43 43 2.0E-4 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs760028473 22q11.22 22 22031240A> C null T P 43 43 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs760028473 22q11.22 22 22031240A> T null T S 43 43 missense 0.606 possibly damaging 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,NCI-TCGA,gnomAD rs536244483 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031241C> G null T S 43 43 2.0E-4 missense 0.606 possibly damaging 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs763175400 22q11.22 22 22031243C> G null L V 44 44 missense 0.606 possibly damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs751763663 22q11.22 22 22031247G> A null S N 45 45 missense 0.257 benign 0.05 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs767693280 22q11.22 22 22031248C> A null S R 45 45 missense 0.175 benign 0.05 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs767693280 22q11.22 22 22031248C> G null S R 45 45 missense 0.175 benign 0.05 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,NCI-TCGA,gnomAD rs751763663 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031247G> C null S T 45 45 missense 0.389 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1366086512 22q11.22 22 22031249A> G null S G 46 46 missense 0.21 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,NCI-TCGA,gnomAD rs546662593 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031250G> A null S N 46 46 2.0E-4 missense 0.53 possibly damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs546662593 22q11.22 22 22031250G> C null S T 46 46 2.0E-4 missense 0.675 possibly damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs777409843 22q11.22 22 22031253G> C null G A 47 47 missense 0.341 benign 0.13 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs758092188 22q11.22 22 22031252G> A null G R 47 47 missense 0.92 probably damaging 0.05 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs758092188 22q11.22 22 22031252G> C null G R 47 47 missense 0.92 probably damaging 0.05 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs777409843 22q11.22 22 22031253G> T null G V 47 47 missense 0.895 possibly damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1450319705 22q11.22 22 22031256A> T null H L 48 48 missense 0.003 benign 0.28 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs770352500 22q11.22 22 22031257C> G null H Q 48 48 missense 0.33 benign 0.11 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1450319705 22q11.22 22 22031256A> G null H R 48 48 missense 0.013 benign 0.14 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs746406997 22q11.22 22 22031255C> T null H Y 48 48 missense 0.0 benign 0.78 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs775820038 22q11.22 22 22031258A> T null S C 49 49 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs775820038 22q11.22 22 22031258A> G null S G 49 49 missense 0.044 benign 0.07 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs768843405 22q11.22 22 22031259G> T null S I 49 49 missense 0.194 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,NCI-TCGA,gnomAD rs768843405 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031259G> A null S N 49 49 missense 0.018 benign 0.14 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs762123054 22q11.22 22 22031260C> G null S R 49 49 missense 0.116 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs775820038 22q11.22 22 22031258A> C null S R 49 49 missense 0.116 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs768843405 22q11.22 22 22031259G> C null S T 49 49 missense 0.127 benign 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,gnomAD rs374276286 22q11.22 22 22031261A> T null S C 50 50 2.0E-4 missense 0.071 benign 0.05 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,gnomAD rs374276286 22q11.22 22 22031261A> G null S G 50 50 2.0E-4 missense 0.005 benign 0.64 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs760624399 22q11.22 22 22031262G> T null S I 50 50 missense 0.047 benign 0.08 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,NCI-TCGA,TOPMed,gnomAD rs760624399 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031262G> A null S N 50 50 missense 0.012 benign 0.63 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs377689317 22q11.22 22 22031263C> G null S R 50 50 missense 0.05 benign 0.1 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,gnomAD rs374276286 22q11.22 22 22031261A> C null S R 50 50 2.0E-4 missense 0.05 benign 0.1 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs760624399 22q11.22 22 22031262G> C null S T 50 50 missense 0.021 benign 0.52 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs745411101 22q11.22 22 22031265A> G null Y C 51 51 missense 0.219 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs55676710 22q11.22 22 22031264T> G null Y D 51 51 2.0E-4 missense 0.297 benign 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs55676710 22q11.22 22 22031264T> C null Y H 51 51 2.0E-4 missense 0.117 benign 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs55676710 22q11.22 22 22031264T> A null Y N 51 51 2.0E-4 missense 0.186 benign 0.05 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs745411101 22q11.22 22 22031265A> C null Y S 51 51 missense 0.205 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs557167949 22q11.22 22 22031268C> A null A D 52 52 2.0E-4 missense 0.0 benign 0.2 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs557167949 22q11.22 22 22031268C> G null A G 52 52 2.0E-4 missense 0.0 benign 0.33 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373592651 22q11.22 22 22031267G> T null A S 52 52 2.0E-4 missense 0.006 benign 0.4 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373592651 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031267G> A null A T 52 52 2.0E-4 missense 0.0 benign 0.41 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs557167949 22q11.22 22 22031268C> T null A V 52 52 2.0E-4 missense 0.003 benign 0.49 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs573842917 22q11.22 22 22031270A> T null I F 53 53 2.0E-4 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377030721 22q11.22 22 22031272C> G null I M 53 53 2.0E-4 missense 0.654 possibly damaging 0.07 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs542590499 22q11.22 22 22031271T> A null I N 53 53 3.99E-4 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs542590499 22q11.22 22 22031271T> G null I S 53 53 3.99E-4 missense 0.909 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs542590499 22q11.22 22 22031271T> C null I T 53 53 3.99E-4 missense 0.406 benign 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs573842917 22q11.22 22 22031270A> G null I V 53 53 2.0E-4 missense 0.129 benign 0.5 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs545397933 22q11.22 22 22031274C> A null A E 54 54 2.0E-4 missense 0.013 benign 0.28 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs545397933 22q11.22 22 22031274C> G null A G 54 54 2.0E-4 missense 0.007 benign 0.33 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs185429538 22q11.22 22 22031273G> C null A P 54 54 2.0E-4 missense 0.487 possibly damaging 0.2 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs185429538 22q11.22 22 22031273G> T null A S 54 54 2.0E-4 missense 0.011 benign 0.41 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs185429538 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031273G> A null A T 54 54 2.0E-4 missense 0.013 benign 0.39 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs545397933 22q11.22 22 22031274C> T null A V 54 54 2.0E-4 missense 0.023 benign 0.5 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,gnomAD rs370284107 22q11.22 22 22031277G> A null W * 55 55 0.001198 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs779424672 22q11.22 22 22031278G> A null W * 55 55 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs779424672 22q11.22 22 22031278G> C null W C 55 55 missense 0.928 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs779424672 22q11.22 22 22031278G> T null W C 55 55 missense 0.928 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1390806446 22q11.22 22 22031276T> C null W R 55 55 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,gnomAD rs370284107 22q11.22 22 22031277G> C null W S 55 55 0.001198 missense 0.962 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs766974464 22q11.22 22 22031280A> T null H L 56 56 missense 0.012 benign 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs766974464 22q11.22 22 22031280A> C null H P 56 56 missense 0.717 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs766974464 22q11.22 22 22031280A> G null H R 56 56 missense 0.486 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1223921923 22q11.22 22 22031279C> T null H Y 56 56 missense 0.003 benign 1.0 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,gnomAD rs374659533 22q11.22 22 22031282C> T null Q * 57 57 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs779515651 22q11.22 22 22031284G> C null Q H 57 57 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1253218565 22q11.22 22 22031283A> C null Q P 57 57 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs551194467 22q11.22 22 22031285C> A null Q K 58 58 2.0E-4 missense 0.667 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs560817731 22q11.22 22 22031286A> T null Q L 58 58 2.0E-4 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs529842999 22q11.22 22 22031288C> T null Q * 59 59 3.99E-4 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs529842999 22q11.22 22 22031288C> A null Q K 59 59 3.99E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs776546982 22q11.22 22 22031289A> T null Q L 59 59 missense 0.013 benign 0.21 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs776546982 22q11.22 22 22031289A> G null Q R 59 59 missense 0.022 benign 0.34 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs546603219 22q11.22 22 22031291C> G null P A 60 60 2.0E-4 missense 0.115 benign 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs546603219 22q11.22 22 22031291C> T null P S 60 60 2.0E-4 missense 0.138 benign 0.06 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs750156674 22q11.22 22 22031294G> T null E * 61 61 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs760215553 22q11.22 22 22031295A> C null E A 61 61 missense 0.01 benign 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs566488497 22q11.22 22 22031296G> T null E D 61 61 2.0E-4 missense 0.117 benign 0.07 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs566488497 22q11.22 22 22031296G> C null E D 61 61 2.0E-4 missense 0.117 benign 0.07 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs760215553 22q11.22 22 22031295A> G null E G 61 61 missense 0.0 benign 1.0 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs750156674 22q11.22 22 22031294G> C null E Q 61 61 missense 0.027 benign 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs538889565 22q11.22 22 22031297A> T null K * 62 62 2.0E-4 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs538889565 22q11.22 22 22031297A> G null K E 62 62 2.0E-4 missense 0.036 benign 0.05 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs538889565 22q11.22 22 22031297A> C null K Q 62 62 2.0E-4 missense 0.218 benign 0.17 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs552197990 22q11.22 22 22031298A> G null K R 62 62 2.0E-4 missense 0.036 benign 0.11 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1302316247 22q11.22 22 22031301G> C null G A 63 63 missense 0.0 benign 1.0 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 Ensembl rs1569179181 22q11.22 22 22031304C> G null P R 64 64 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs747301699 22q11.22 22 22031306C> G null R G 65 65 missense 0.103 benign 0.05 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs781434297 22q11.22 22 22031307G> C null R P 65 65 missense 0.898 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,NCI-TCGA,TOPMed,gnomAD rs781434297 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031307G> A null R Q 65 65 missense 0.082 benign 0.19 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs747301699 22q11.22 22 22031306C> T null R W 65 65 missense 0.103 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs552922857 22q11.22 22 22031311C> G null Y * 66 66 3.99E-4 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs566510459 22q11.22 22 22031310A> G null Y C 66 66 9.98E-4 missense 0.854 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs566510459 22q11.22 22 22031310A> T null Y F 66 66 9.98E-4 missense 0.242 benign 0.4 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs554780037 22q11.22 22 22031309T> A null Y N 66 66 2.0E-4 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs566510459 22q11.22 22 22031310A> C null Y S 66 66 9.98E-4 missense 0.812 possibly damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs545640633 22q11.22 22 22031314G> C null L F 67 67 2.0E-4 missense 0.931 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs572903828 22q11.22 22 22031313T> C null L S 67 67 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs759134288 22q11.22 22 22031312T> G null L V 67 67 missense 0.878 possibly damaging 0.36 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs572903828 22q11.22 22 22031313T> G null L W 67 67 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1427355653 22q11.22 22 22031317G> T null M I 68 68 missense 0.01 benign 0.22 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed rs1311499280 22q11.22 22 22031316T> C null M T 68 68 missense 0.362 benign 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs565426706 22q11.22 22 22031315A> G null M V 68 68 2.0E-4 missense 0.04 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC rs751896621 22q11.22 22 22031318A> G null K E 69 69 missense 0.01 benign 0.23 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs575936458 22q11.22 22 22031319A> T null K M 69 69 2.0E-4 missense 0.04 benign 0.16 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 NCI-TCGA,gnomAD rs535460731 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031320G> C null K N 69 69 missense 0.0 benign 0.25 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs535460731 22q11.22 22 22031320G> T null K N 69 69 missense 0.0 benign 0.25 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,NCI-TCGA,gnomAD rs575936458 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031319A> G null K R 69 69 2.0E-4 missense 0.0 benign 0.45 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,NCI-TCGA,TOPMed,gnomAD rs555475796 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031321C> T null L F 70 70 missense 0.005 benign 0.28 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs368541066 22q11.22 22 22031322T> A null L H 70 70 missense 0.05 benign 0.09 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs555475796 22q11.22 22 22031321C> A null L I 70 70 missense 0.137 benign 0.12 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs368541066 22q11.22 22 22031322T> G null L R 70 70 missense 0.717 possibly damaging 0.05 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs555475796 22q11.22 22 22031321C> G null L V 70 70 missense 0.005 benign 0.98 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs770704231 22q11.22 22 22031324A> G null N D 71 71 missense 0.039 benign 0.64 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC rs776486191 22q11.22 22 22031325A> G null N S 71 71 missense 0.0 benign 0.82 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs770704231 22q11.22 22 22031324A> T null N Y 71 71 missense 0.0 benign 0.47 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs764883708 22q11.22 22 22031327A> T null S C 72 72 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,NCI-TCGA,gnomAD rs544457524 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031328G> T null S I 72 72 5.99E-4 missense 0.396 benign 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs544457524 22q11.22 22 22031328G> A null S N 72 72 5.99E-4 missense 0.784 possibly damaging 0.05 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs757619721 22q11.22 22 22031329T> G null S R 72 72 missense 0.19 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs764883708 22q11.22 22 22031327A> C null S R 72 72 missense 0.19 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs544457524 22q11.22 22 22031328G> C null S T 72 72 5.99E-4 missense 0.054 benign 0.17 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs780201576 22q11.22 22 22031331A> C null D A 73 73 missense 0.608 possibly damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1385602565 22q11.22 22 22031332T> A null D E 73 73 missense 0.15 benign 0.05 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs780201576 22q11.22 22 22031331A> G null D G 73 73 missense 0.119 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs561500013 22q11.22 22 22031330G> C null D H 73 73 3.99E-4 missense 0.332 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs561500013 22q11.22 22 22031330G> A null D N 73 73 3.99E-4 missense 0.119 benign 0.13 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs780201576 22q11.22 22 22031331A> T null D V 73 73 missense 0.527 possibly damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs921969760 22q11.22 22 22031334G> A null G D 74 74 missense 0.036 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed rs1357643103 22q11.22 22 22031333G> A null G S 74 74 missense 0.029 benign 0.65 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1314754736 22q11.22 22 22031336A> G null S G 75 75 missense 0.143 benign 0.14 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs529778849 22q11.22 22 22031337G> A null S N 75 75 2.0E-4 missense 0.003 benign 0.36 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1314754736 22q11.22 22 22031336A> C null S R 75 75 missense 0.051 benign 0.14 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs56371242 22q11.22 22 22031338C> G null S R 75 75 3.99E-4 missense 0.051 benign 0.14 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs529778849 22q11.22 22 22031337G> C null S T 75 75 2.0E-4 missense 0.013 benign 0.35 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs770701408 22q11.22 22 22031340A> T null H L 76 76 missense 0.003 benign 0.53 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs560151357 22q11.22 22 22031339C> A null H N 76 76 2.0E-4 missense 0.0 benign 0.32 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs776541483 22q11.22 22 22031341C> G null H Q 76 76 missense 0.0 benign 0.3 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs560151357 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031339C> T null H Y 76 76 2.0E-4 missense 0.0 benign 0.94 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs113792022 22q11.22 22 22031343G> T null S I 77 77 9.98E-4 missense 0.015 benign 0.1 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs113792022 22q11.22 22 22031343G> A null S N 77 77 9.98E-4 missense 0.001 benign 0.37 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs768196983 22q11.22 22 22031344C> G null S R 77 77 missense 0.009 benign 0.22 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs768196983 22q11.22 22 22031344C> A null S R 77 77 missense 0.009 benign 0.22 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs745568535 22q11.22 22 22031342A> C null S R 77 77 missense 0.009 benign 0.22 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs113792022 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031343G> C null S T 77 77 9.98E-4 missense 0.003 benign 0.36 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1411575518 22q11.22 22 22031345A> G null K E 78 78 missense 0.212 benign 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1411575518 22q11.22 22 22031345A> C null K Q 78 78 missense 0.017 benign 0.76 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 Ensembl rs1569179331 22q11.22 22 22031346A> C null K T 78 78 missense 0.291 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140354453 22q11.22 22 22031349G> A null G E 79 79 0.009784 missense 0.932 probably damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC rs750808669 22q11.22 22 22031352A> C null D A 80 80 missense 0.009 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC rs750808669 22q11.22 22 22031352A> G null D G 80 80 missense 0.102 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC rs750808669 22q11.22 22 22031352A> T null D V 80 80 missense 0.102 benign 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed,gnomAD rs1346004345 22q11.22 22 22031351G> T null D Y 80 80 missense 0.015 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1408440475 22q11.22 22 22031355G> A null G E 81 81 missense 0.907 possibly damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs766594942 22q11.22 22 22031354G> A null G R 81 81 missense 0.957 probably damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs531668549 22q11.22 22 22031357A> C null I L 82 82 2.0E-4 missense 0.031 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs531668549 22q11.22 22 22031357A> G null I V 82 82 2.0E-4 missense 0.006 benign 0.8 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed,gnomAD rs1372071379 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031360C> T null P S 83 83 missense 0.873 possibly damaging 0.06 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1225761345 22q11.22 22 22031363G> C null D H 84 84 missense 0.9 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs751022859 22q11.22 22 22031366C> T null R C 85 85 missense 0.218 benign 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,NCI-TCGA,gnomAD rs567937647 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031367G> A null R H 85 85 0.001198 missense 0.218 benign 0.05 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs769652001 22q11.22 22 22031369T> A null F I 86 86 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs769652001 22q11.22 22 22031369T> C null F L 86 86 missense 0.789 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes rs536297695 22q11.22 22 22031370T> C null F S 86 86 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs773889615 22q11.22 22 22031373C> G null S * 87 87 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs748964889 22q11.22 22 22031372T> G null S A 87 87 missense 0.859 possibly damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs748964889 22q11.22 22 22031372T> C null S P 87 87 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs566663003 22q11.22 22 22031376G> A null G D 88 88 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs761042227 22q11.22 22 22031379C> T null S F 89 89 missense 0.562 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs766717966 22q11.22 22 22031381A> T null S C 90 90 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs766717966 22q11.22 22 22031381A> G null S G 90 90 missense 0.012 benign 0.39 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs759775438 22q11.22 22 22031382G> A null S N 90 90 missense 0.448 possibly damaging 0.09 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs766717966 22q11.22 22 22031381A> C null S R 90 90 missense 0.08 benign 0.07 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs538650616 22q11.22 22 22031383C> A null S R 90 90 2.0E-4 missense 0.08 benign 0.07 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs538650616 22q11.22 22 22031383C> G null S R 90 90 2.0E-4 missense 0.08 benign 0.07 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs759775438 22q11.22 22 22031382G> C null S T 90 90 missense 0.017 benign 0.31 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1445068750 22q11.22 22 22031388G> C null G A 92 92 missense 0.024 benign 0.5 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1408420666 22q11.22 22 22031391C> G null A G 93 93 missense 0.013 benign 0.23 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1350302299 22q11.22 22 22031390G> T null A S 93 93 missense 0.04 benign 0.62 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1350302299 22q11.22 22 22031390G> A null A T 93 93 missense 0.022 benign 0.5 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs924026137 22q11.22 22 22031395G> T null E D 94 94 missense 0.0 benign 1.0 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs748941356 22q11.22 22 22031394A> G null E G 94 94 missense 0.027 benign 0.07 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,NCI-TCGA,gnomAD rs779961811 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031393G> C null E Q 94 94 missense 0.01 benign 0.14 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,NCI-TCGA,gnomAD rs376120930 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031396C> T null R C 95 95 missense 0.051 benign 0.18 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369206978 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031397G> A null R H 95 95 missense 0.013 benign 0.38 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs369206978 22q11.22 22 22031397G> T null R L 95 95 missense 0.022 benign 0.4 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed rs778299029 22q11.22 22 22031397_22031400du p null Y * 96 96 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs747512470 22q11.22 22 22031400A> G null Y C 96 96 missense 0.892 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs747512470 22q11.22 22 22031400A> T null Y F 96 96 missense 0.037 benign 0.18 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,gnomAD rs374007299 22q11.22 22 22031399T> C null Y H 96 96 missense 0.054 benign 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,gnomAD rs374007299 22q11.22 22 22031399T> A null Y N 96 96 missense 0.054 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs747512470 22q11.22 22 22031400A> C null Y S 96 96 missense 0.066 benign 0.06 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,gnomAD rs377104473 22q11.22 22 22031402C> T null L F 97 97 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,NCI-TCGA,gnomAD rs377104473 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22031402C> G null L V 97 97 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs575832490 22q11.22 22 22031406C> T null T I 98 98 3.99E-4 missense 0.059 benign 0.07 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,TOPMed,gnomAD rs558937590 22q11.22 22 22031405A> C null T P 98 98 5.99E-4 missense 0.816 possibly damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs575832490 22q11.22 22 22031406C> G null T S 98 98 3.99E-4 missense 0.063 benign 0.37 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,TOPMed,gnomAD rs558937590 22q11.22 22 22031405A> T null T S 98 98 5.99E-4 missense 0.063 benign 0.37 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs544903941 22q11.22 22 22031408A> T null I F 99 99 2.0E-4 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs369819750 22q11.22 22 22031409T> C null I T 99 99 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 Ensembl rs1569179460 22q11.22 22 22031412C> G null S C 100 100 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs753698045 22q11.22 22 22031416C> A null S R 101 101 missense 0.003 benign 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1345733052 22q11.22 22 22031415G> C null S T 101 101 missense 0.039 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs754663247 22q11.22 22 22031417C> T null L F 102 102 missense 0.81 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs747787521 22q11.22 22 22031420C> G null Q E 103 103 missense 0.922 probably damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs555171423 22q11.22 22 22031422G> C null Q H 103 103 2.0E-4 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1273747842 22q11.22 22 22031421A> G null Q R 103 103 missense 0.907 possibly damaging 0.04 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs747567319 22q11.22 22 22031424C> G null S C 104 104 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs747567319 22q11.22 22 22031424C> T null S F 104 104 missense 0.03 benign 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC rs777235817 22q11.22 22 22031423T> A null S T 104 104 missense 0.037 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs771453328 22q11.22 22 22031427A> C null E A 105 105 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs776968190 22q11.22 22 22031428G> C null E D 105 105 missense 0.457 possibly damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs575096793 22q11.22 22 22031430A> C null D A 106 106 2.0E-4 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,gnomAD rs575096793 22q11.22 22 22031430A> G null D G 106 106 2.0E-4 missense 0.786 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs746252774 22q11.22 22 22031429G> A null D N 106 106 missense 0.865 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 Ensembl rs906759750 22q11.22 22 22031432G> T null E * 107 107 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs540871320 22q11.22 22 22031433A> C null E A 107 107 2.0E-4 missense 0.729 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ExAC,TOPMed,gnomAD rs540871320 22q11.22 22 22031433A> G null E G 107 107 2.0E-4 missense 0.457 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs766344593 22q11.22 22 22031436C> G null A G 108 108 missense 0.664 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs373842437 22q11.22 22 22031435G> C null A P 108 108 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs373842437 22q11.22 22 22031435G> T null A S 108 108 missense 0.863 possibly damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs373842437 22q11.22 22 22031435G> A null A T 108 108 missense 0.863 possibly damaging 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs766344593 22q11.22 22 22031436C> T null A V 108 108 missense 0.906 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs754860687 22q11.22 22 22031439A> C null D A 109 109 missense 0.488 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370357625 22q11.22 22 22031440C> A null D E 109 109 2.0E-4 missense 0.154 benign 0.18 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370357625 22q11.22 22 22031440C> G null D E 109 109 2.0E-4 missense 0.154 benign 0.18 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs754860687 22q11.22 22 22031439A> G null D G 109 109 missense 0.229 benign 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,gnomAD rs377034916 22q11.22 22 22031438G> A null D N 109 109 missense 0.341 benign 0.03 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs754860687 22q11.22 22 22031439A> T null D V 109 109 missense 0.488 possibly damaging 0.12 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs758027544 22q11.22 22 22031442A> G null Y C 110 110 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1346607143 22q11.22 22 22031441T> G null Y D 110 110 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs758027544 22q11.22 22 22031442A> T null Y F 110 110 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1346607143 22q11.22 22 22031441T> C null Y H 110 110 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs758027544 22q11.22 22 22031442A> C null Y S 110 110 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs538033660 22q11.22 22 22031446C> A null Y * 111 111 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs756659797 22q11.22 22 22031445A> G null Y C 111 111 missense 0.647 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,gnomAD rs372708335 22q11.22 22 22031444T> G null Y D 111 111 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,gnomAD rs372708335 22q11.22 22 22031444T> C null Y H 111 111 missense 0.476 possibly damaging 0.06 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes rs532262127 22q11.22 22 22031448G> T null C F 112 112 2.0E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 TOPMed,gnomAD rs1340361213 22q11.22 22 22031447T> C null C R 112 112 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs746353786 22q11.22 22 22031451A> T null Q L 113 113 missense 0.003 benign 0.2 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed,gnomAD rs746353786 22q11.22 22 22031451A> C null Q P 113 113 missense 0.219 benign 0.11 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC rs770231898 22q11.22 22 22031454C> T null T I 114 114 missense 0.046 benign 0.39 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes rs188851121 22q11.22 22 22031453A> C null T P 114 114 missense 0.898 possibly damaging 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 gnomAD rs1207870050 22q11.22 22 22031457_22031458ins A null W * 115 115 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed rs55653230 22q11.22 22 22031460G> C null G A 116 116 missense 0.003 benign 0.38 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,TOPMed rs55653230 22q11.22 22 22031460G> A null G D 116 116 missense 0.0 benign 0.65 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC,gnomAD rs534892602 22q11.22 22 22031459G> A null G S 116 116 missense 0.003 benign 0.25 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes rs562521216 22q11.22 22 22031462A> G null T A 117 117 2.0E-4 missense 0.012 benign 0.08 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes rs562521216 22q11.22 22 22031462A> T null T S 117 117 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs370500170 22q11.22 22 22031466G> C null G A 118 118 missense 0.06 benign 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ESP,ExAC,TOPMed,gnomAD rs370500170 22q11.22 22 22031466G> A null G D 118 118 missense 0.095 benign 0.08 tolerated 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 Ensembl rs1569179560 22q11.22 22 22031468A> T null I F 119 119 missense 0.16 benign 0.02 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 ExAC rs775706048 22q11.22 22 22031469_22031470insGGCCCGGTGGGCACTCACCTGAGTCCTTACTTTTGTGGGCC A null I MARWALT* 119 119 stop gained 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 1000Genomes rs548085033 22q11.22 22 22031469T> C null I T 119 119 2.0E-4 missense 0.061 benign 0.01 deleterious 0 A0A075B6H9 IGLV4-69 Immunoglobulin lambda variable 4-69 Ensembl rs1569179569 22q11.22 22 22031470_22031471insGGGTGTTCGGCGGAGGGACCAAGCTGACCGTCCTAGGTGAGTCTCTTC T null * G 120 120 stop gained 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs773146406 22q11.22 22 22098753T> C null V A 3 3 missense 0.269 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed rs1306756119 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22098756C> T null P L 4 4 missense 0.012 benign 0.07 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs760761740 22q11.22 22 22098755C> T null P S 4 4 missense 0.709 possibly damaging 0.71 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs775343098 22q11.22 22 22098763G> A null M I 6 6 missense 0.223 benign 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs769653579 22q11.22 22 22098762T> C null M T 6 6 missense 0.404 benign 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1364423542 22q11.22 22 22098768G> C null W S 8 8 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC rs762789383 22q11.22 22 22098770A> C null M L 9 9 missense 0.034 benign 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs551323199 22q11.22 22 22098771T> G null M R 9 9 2.0E-4 missense 0.003 benign 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs551323199 22q11.22 22 22098771T> C null M T 9 9 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1409008946 22q11.22 22 22098775G> A null M I 10 10 missense 0.012 benign 0.46 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1330616099 22q11.22 22 22098773A> C null M L 10 10 missense 0.0 benign 0.66 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs751250556 22q11.22 22 22098774T> C null M T 10 10 missense 0.05 benign 0.37 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs543041859 22q11.22 22 22098776C> T null L F 11 11 2.0E-4 missense 0.936 probably damaging 0.08 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs543041859 22q11.22 22 22098776C> A null L I 11 11 2.0E-4 missense 0.182 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs533312214 22q11.22 22 22098782C> T null L F 13 13 2.0E-4 missense 0.251 benign 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs533312214 22q11.22 22 22098782C> G null L V 13 13 2.0E-4 missense 0.622 possibly damaging 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs755433328 22q11.22 22 22098786G> C null G A 14 14 missense 0.558 possibly damaging 0.67 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs184643084 22q11.22 22 22098785G> A null G R 14 14 9.98E-4 missense 0.814 possibly damaging 0.41 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs184643084 22q11.22 22 22098785G> C null G R 14 14 9.98E-4 missense 0.814 possibly damaging 0.41 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed rs1332676173 22q11.22 22 22098794G> A null A T 17 17 missense 0.098 benign 0.32 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs764428992 22q11.22 22 22098798A> G null Y C 18 18 missense 0.01 benign 0.11 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs764428992 22q11.22 22 22098798A> C null Y S 18 18 missense 0.23 benign 0.06 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1181925575 22q11.22 22 22098800G> A null G R 19 19 missense 0.151 benign 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs769321282 22q11.22 22 22098909T> C null V A 22 22 missense 0.047 benign 0.35 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs759136391 22q11.22 22 22098908G> C null V L 22 22 missense 0.625 possibly damaging 0.12 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs759136391 22q11.22 22 22098908G> A null V M 22 22 missense 0.968 probably damaging 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,TOPMed,gnomAD rs368835881 22q11.22 22 22098912A> C null D A 23 23 missense 0.47 possibly damaging 0.53 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,TOPMed,gnomAD rs368835881 22q11.22 22 22098912A> G null D G 23 23 missense 0.47 possibly damaging 0.34 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs775932528 22q11.22 22 22098911G> A null D N 23 23 missense 0.042 benign 0.32 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,TOPMed,gnomAD rs201962911 22q11.22 22 22098915C> A null S Y 24 24 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,TOPMed,gnomAD rs374967441 22q11.22 22 22098917C> T null Q * 25 25 stop gained 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374967441 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22098917C> G null Q E 25 25 missense 0.015 benign 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,gnomAD rs367884072 22q11.22 22 22098919G> C null Q H 25 25 missense 0.738 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs751928003 22q11.22 22 22098921C> T null T I 26 26 missense 0.259 benign 0.14 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1361388959 22q11.22 22 22098926G> T null V L 28 28 missense 0.846 possibly damaging 0.86 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1302603737 22q11.22 22 22098932C> G null Q E 30 30 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1377377160 22q11.22 22 22098933A> C null Q P 30 30 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs556491223 22q11.22 22 22098937G> C null E D 31 31 2.0E-4 missense 0.164 benign 0.28 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1328055483 22q11.22 22 22098936A> G null E G 31 31 missense 0.928 probably damaging 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs1288526259 22q11.22 22 22098935G> C null E Q 31 31 missense 0.961 probably damaging 0.13 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1264522765 22q11.22 22 22098938C> T null P S 32 32 missense 0.863 possibly damaging 0.25 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs542479842 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22098942C> T null S L 33 33 2.0E-4 missense 0.154 benign 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC rs770798360 22q11.22 22 22098945T> G null F C 34 34 missense 0.23 benign 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs1176931595 22q11.22 22 22098946C> A null F L 34 34 missense 0.0 benign 1.0 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs955762995 22q11.22 22 22098944T> C null F L 34 34 missense 0.0 benign 1.0 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC rs770798360 22q11.22 22 22098945T> C null F S 34 34 missense 0.021 benign 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs955762995 22q11.22 22 22098944T> G null F V 34 34 missense 0.0 benign 0.98 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 Ensembl rs111788305 22q11.22 22 22098947T> G null S A 35 35 missense 0.722 possibly damaging 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs781037443 22q11.22 22 22098951T> C null V A 36 36 missense 0.711 possibly damaging 0.34 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed rs1209023893 22q11.22 22 22098950G> C null V L 36 36 missense 0.109 benign 0.27 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 Ensembl rs867539477 22q11.22 22 22098959_22098960delinsA A null G K 39 39 missense 0.529 possibly damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,TOPMed rs372122321 22q11.22 22 22098962G> A null G R 40 40 missense 0.324 benign 0.11 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs545188780 22q11.22 22 22098968G> A null V I 42 42 3.99E-4 missense 0.411 benign 0.05 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376906337 22q11.22 22 22098974C> T null L F 44 44 2.0E-4 missense 0.865 possibly damaging 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376906337 22q11.22 22 22098974C> A null L I 44 44 2.0E-4 missense 0.988 probably damaging 0.59 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC rs769239538 22q11.22 22 22098975T> G null L R 44 44 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376906337 22q11.22 22 22098974C> G null L V 44 44 2.0E-4 missense 0.988 probably damaging 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs762215870 22q11.22 22 22098978C> T null T I 45 45 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369521636 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.22 22 22098982T> A null C * 46 46 stop gained 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1349483389 22q11.22 22 22098980T> G null C G 46 46 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs550011776 22q11.22 22 22098984G> C null G A 47 47 2.0E-4 missense 0.408 benign 0.43 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs550011776 22q11.22 22 22098984G> A null G D 47 47 2.0E-4 missense 0.529 possibly damaging 0.05 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs754970895 22q11.22 22 22098988G> T null L F 48 48 missense 0.229 benign 0.7 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs754970895 22q11.22 22 22098988G> C null L F 48 48 missense 0.229 benign 0.7 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs753955204 22q11.22 22 22098986T> G null L V 48 48 missense 0.774 possibly damaging 0.5 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs764147748 22q11.22 22 22098989A> T null S C 49 49 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs764147748 22q11.22 22 22098989A> G null S G 49 49 missense 0.711 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC rs373253306 22q11.22 22 22098990G> A null S N 49 49 5.99E-4 missense 0.341 benign 0.12 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs764147748 22q11.22 22 22098989A> C null S R 49 49 missense 0.229 benign 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs745605022 22q11.22 22 22098991C> G null S R 49 49 missense 0.229 benign 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC rs373253306 22q11.22 22 22098990G> C null S T 49 49 5.99E-4 missense 0.175 benign 0.13 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs754585549 22q11.22 22 22098992_22098993insAG C null S * 50 50 stop gained 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs966368534 22q11.22 22 22098993C> G null S C 50 50 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs966368534 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22098993C> T null S F 50 50 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,NCI-TCGA,TOPMed,gnomAD rs566370819 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22098996G> A null G D 51 51 3.99E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1190690182 22q11.22 22 22098999C> T null S L 52 52 missense 0.861 possibly damaging 0.28 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 Ensembl rs1568927502 22q11.22 22 22099001G> A null V I 53 53 missense 0.319 benign 0.52 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs866706603 22q11.22 22 22099005C> G null S C 54 54 missense 0.954 probably damaging 0.1 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs866706603 22q11.22 22 22099005C> T null S F 54 54 missense 0.19 benign 0.36 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed rs1342895193 22q11.22 22 22099004T> A null S T 54 54 missense 0.054 benign 1.0 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs774880207 22q11.22 22 22099007A> G null T A 55 55 missense 0.522 possibly damaging 0.48 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs748650831 22q11.22 22 22099008C> T null T I 55 55 missense 0.918 probably damaging 0.25 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs774880207 22q11.22 22 22099007A> T null T S 55 55 missense 0.079 benign 0.78 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs748650831 22q11.22 22 22099008C> G null T S 55 55 missense 0.079 benign 0.78 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs185633024 22q11.22 22 22099010A> T null S C 56 56 missense 0.943 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs185633024 22q11.22 22 22099010A> G null S G 56 56 missense 0.026 benign 0.54 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs535046788 22q11.22 22 22099011G> A null S N 56 56 5.99E-4 missense 0.062 benign 0.23 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs185633024 22q11.22 22 22099010A> C null S R 56 56 missense 0.813 possibly damaging 0.12 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs189185367 22q11.22 22 22099012T> G null S R 56 56 2.0E-4 missense 0.813 possibly damaging 0.12 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs535046788 22q11.22 22 22099011G> C null S T 56 56 5.99E-4 missense 0.071 benign 0.14 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148886120 22q11.22 22 22099015C> G null Y * 57 57 0.01657 stop gained 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs750265313 22q11.22 22 22099014A> G null Y C 57 57 missense 0.373 benign 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs571750564 22q11.22 22 22099013T> G null Y D 57 57 2.0E-4 missense 0.013 benign 0.07 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs750265313 22q11.22 22 22099014A> T null Y F 57 57 missense 0.079 benign 0.11 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs571750564 22q11.22 22 22099013T> C null Y H 57 57 2.0E-4 missense 0.0 benign 0.43 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs571750564 22q11.22 22 22099013T> A null Y N 57 57 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs748863730 22q11.22 22 22099017A> T null Y F 58 58 missense 0.03 benign 0.05 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs779806984 22q11.22 22 22099016T> C null Y H 58 58 missense 0.03 benign 0.09 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs779806984 22q11.22 22 22099016T> A null Y N 58 58 missense 0.02 benign 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed rs1186139198 22q11.22 22 22099020C> A null P H 59 59 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs778382629 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22099019C> T null P S 59 59 missense 1.0 probably damaging 0.39 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs778382629 22q11.22 22 22099019C> A null P T 59 59 missense 1.0 probably damaging 0.17 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs573437439 22q11.22 22 22099022A> T null S C 60 60 2.0E-4 missense 0.84 possibly damaging 0.1 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs573437439 22q11.22 22 22099022A> G null S G 60 60 2.0E-4 missense 0.012 benign 0.39 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs535823475 22q11.22 22 22099023G> T null S I 60 60 3.99E-4 missense 0.674 possibly damaging 0.12 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs535823475 22q11.22 22 22099023G> A null S N 60 60 3.99E-4 missense 0.03 benign 0.29 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs535823475 22q11.22 22 22099023G> C null S T 60 60 3.99E-4 missense 0.051 benign 0.2 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs552597274 22q11.22 22 22099027G> A null W * 61 61 2.0E-4 stop gained 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs552597274 22q11.22 22 22099027G> C null W C 61 61 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs552597274 22q11.22 22 22099027G> T null W C 61 61 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1466616940 22q11.22 22 22099025T> G null W G 61 61 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed rs1484964024 22q11.22 22 22099026G> T null W L 61 61 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1447985377 22q11.22 22 22099029A> G null Y C 62 62 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1390128698 22q11.22 22 22099028T> A null Y N 62 62 missense 0.69 possibly damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1414049950 22q11.22 22 22099031C> G null Q E 63 63 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,NCI-TCGA,gnomAD rs750306634 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22099033G> T null Q H 63 63 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,gnomAD rs369935102 22q11.22 22 22099032A> T null Q L 63 63 2.0E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,gnomAD rs369935102 22q11.22 22 22099032A> G null Q R 63 63 2.0E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC rs766083959 22q11.22 22 22099037A> G null T A 65 65 missense 0.711 possibly damaging 0.2 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs753586375 22q11.22 22 22099038C> T null T I 65 65 missense 0.341 benign 0.18 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs752233131 22q11.22 22 22099041C> A null P Q 66 66 missense 0.259 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs575372650 22q11.22 22 22099040C> T null P S 66 66 2.0E-4 missense 0.392 benign 0.09 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs747441071 22q11.22 22 22099048G> C null Q H 68 68 missense 0.84 possibly damaging 0.05 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1331269077 22q11.22 22 22099050C> A null A D 69 69 missense 0.845 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1271545572 22q11.22 22 22099049G> C null A P 69 69 missense 0.031 benign 0.13 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1271545572 22q11.22 22 22099049G> A null A T 69 69 missense 0.125 benign 0.08 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs781394529 22q11.22 22 22099052C> G null P A 70 70 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs931147368 22q11.22 22 22099053C> T null P L 70 70 missense 0.324 benign 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs781394529 22q11.22 22 22099052C> T null P S 70 70 missense 0.901 possibly damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs781394529 22q11.22 22 22099052C> A null P T 70 70 missense 0.455 possibly damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372985044 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22099055C> T null R C 71 71 missense 0.044 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,NCI-TCGA,TOPMed,gnomAD rs770175273 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22099056G> A null R H 71 71 missense 0.044 benign 0.08 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs770175273 22q11.22 22 22099056G> T null R L 71 71 missense 0.383 benign 0.11 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1472691141 22q11.22 22 22099058A> G null T A 72 72 missense 0.007 benign 0.4 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs118030360 22q11.22 22 22099059C> T null T M 72 72 0.01657 missense 0.026 benign 0.32 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1457247958 22q11.22 22 22099061C> T null L F 73 73 missense 0.168 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1157862789 22q11.22 22 22099064A> T null I F 74 74 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1157862789 22q11.22 22 22099064A> C null I L 74 74 missense 0.389 benign 0.07 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs563748043 22q11.22 22 22099066C> G null I M 74 74 3.99E-4 missense 0.389 benign 0.06 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1157862789 22q11.22 22 22099064A> G null I V 74 74 missense 0.519 possibly damaging 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs529453163 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22099068A> G null Y C 75 75 2.0E-4 missense 0.229 benign 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs760516428 22q11.22 22 22099067T> G null Y D 75 75 missense 0.85 possibly damaging 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs760516428 22q11.22 22 22099067T> C null Y H 75 75 missense 0.229 benign 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs760516428 22q11.22 22 22099067T> A null Y N 75 75 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,TOPMed,gnomAD rs529453163 22q11.22 22 22099068A> C null Y S 75 75 2.0E-4 missense 0.889 possibly damaging 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs764889572 22q11.22 22 22099070A> G null S G 76 76 missense 0.001 benign 0.56 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370238840 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22099071G> A null S N 76 76 7.99E-4 missense 0.0 benign 0.82 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1352571553 22q11.22 22 22099072C> G null S R 76 76 missense 0.001 benign 0.33 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1352571553 22q11.22 22 22099072C> A null S R 76 76 missense 0.001 benign 0.33 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370238840 22q11.22 22 22099071G> C null S T 76 76 7.99E-4 missense 0.039 benign 0.27 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs528736173 22q11.22 22 22099073A> G null T A 77 77 2.0E-4 missense 0.109 benign 0.12 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs528736173 22q11.22 22 22099073A> T null T S 77 77 2.0E-4 missense 0.774 possibly damaging 0.19 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,TOPMed,gnomAD rs372797002 22q11.22 22 22099076A> G null N D 78 78 missense 0.062 benign 0.13 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs746260212 22q11.22 22 22099078C> G null N K 78 78 missense 0.554 possibly damaging 0.08 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs1202657426 22q11.22 22 22099077A> G null N S 78 78 missense 0.044 benign 0.81 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,gnomAD rs376087910 22q11.22 22 22099080C> T null T I 79 79 missense 0.009 benign 0.07 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,gnomAD rs376087910 22q11.22 22 22099080C> G null T S 79 79 missense 0.001 benign 0.75 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1040362076 22q11.22 22 22099082C> T null R C 80 80 missense 0.089 benign 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,NCI-TCGA,TOPMed,gnomAD rs199887007 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22099083G> A null R H 80 80 missense 0.089 benign 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs199887007 22q11.22 22 22099083G> T null R L 80 80 missense 0.647 possibly damaging 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs181569364 22q11.22 22 22099085T> G null S A 81 81 2.0E-4 missense 0.0 benign 0.16 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs1467163613 22q11.22 22 22099086C> G null S C 81 81 missense 0.307 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs1467163613 22q11.22 22 22099086C> A null S Y 81 81 missense 0.0 benign 0.12 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1401430362 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22099089C> T null S F 82 82 missense 0.674 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1309697553 22q11.22 22 22099094G> A null V I 84 84 missense 0.098 benign 0.6 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs764982479 22q11.22 22 22099098C> T null P L 85 85 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1410707692 22q11.22 22 22099097C> T null P S 85 85 missense 0.662 possibly damaging 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs368317111 22q11.22 22 22099101A> C null D A 86 86 missense 0.012 benign 0.82 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1334004035 22q11.22 22 22099100G> C null D H 86 86 missense 0.792 possibly damaging 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs368317111 22q11.22 22 22099101A> T null D V 86 86 missense 0.051 benign 0.1 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs9611014 22q11.22 22 22099103C> T null R C 87 87 0.1963 missense 0.042 benign 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs9611014 22q11.22 22 22099103C> G null R G 87 87 0.1963 missense 0.672 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs763741497 22q11.22 22 22099104G> A null R H 87 87 missense 0.097 benign 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs9611014 22q11.22 22 22099103C> A null R S 87 87 0.1963 missense 0.255 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs751065824 22q11.22 22 22099110C> T null S F 89 89 missense 0.229 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1209161547 22q11.22 22 22099109T> C null S P 89 89 missense 0.229 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed rs1251753338 22q11.22 22 22099113G> C null G A 90 90 missense 0.662 possibly damaging 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed rs1251753338 22q11.22 22 22099113G> T null G V 90 90 missense 0.529 possibly damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1203951423 22q11.22 22 22099115T> G null S A 91 91 missense 0.109 benign 0.08 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs552513624 22q11.22 22 22099116C> T null S F 91 91 2.0E-4 missense 0.229 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1203951423 22q11.22 22 22099115T> A null S T 91 91 missense 0.24 benign 0.06 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs750932851 22q11.22 22 22099118A> T null I F 92 92 missense 0.996 probably damaging 0.48 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,gnomAD rs370113575 22q11.22 22 22099120C> G null I M 92 92 missense 0.997 probably damaging 0.17 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs1198963371 22q11.22 22 22099119T> A null I N 92 92 missense 0.996 probably damaging 0.48 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs1198963371 22q11.22 22 22099119T> C null I T 92 92 missense 0.873 possibly damaging 0.41 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs750932851 22q11.22 22 22099118A> G null I V 92 92 missense 0.943 probably damaging 0.4 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs375427743 22q11.22 22 22099121C> T null L F 93 93 missense 0.578 possibly damaging 0.12 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs375427743 22q11.22 22 22099121C> G null L V 93 93 missense 0.14 benign 0.08 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs755160990 22q11.22 22 22099125G> A null G E 94 94 missense 0.529 possibly damaging 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs748199475 22q11.22 22 22099127A> G null N D 95 95 missense 0.829 possibly damaging 0.16 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs776589239 22q11.22 22 22099129C> G null N K 95 95 missense 0.175 benign 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs776589239 22q11.22 22 22099129C> A null N K 95 95 missense 0.175 benign 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs772167642 22q11.22 22 22099128A> G null N S 95 95 missense 0.175 benign 0.12 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs745798007 22q11.22 22 22099131A> T null K I 96 96 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs745798007 22q11.22 22 22099131A> G null K R 96 96 missense 0.397 benign 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs745798007 22q11.22 22 22099131A> C null K T 96 96 missense 0.533 possibly damaging 0.76 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs1331012063 22q11.22 22 22099133G> T null A S 97 97 missense 0.847 possibly damaging 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs1331012063 22q11.22 22 22099133G> A null A T 97 97 missense 0.455 possibly damaging 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs774035080 22q11.22 22 22099137C> A null A D 98 98 missense 0.852 possibly damaging 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs188717570 22q11.22 22 22099136G> C null A P 98 98 missense 0.168 benign 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs188717570 22q11.22 22 22099136G> T null A S 98 98 missense 0.177 benign 0.53 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs188717570 22q11.22 22 22099136G> A null A T 98 98 missense 0.079 benign 0.85 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs774035080 22q11.22 22 22099137C> T null A V 98 98 missense 0.259 benign 0.12 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed rs1305333750 22q11.22 22 22099139C> T null L F 99 99 missense 0.397 benign 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs767050100 22q11.22 22 22099142A> G null T A 100 100 missense 0.799 possibly damaging 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs907992467 22q11.22 22 22099143C> A null T N 100 100 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 TOPMed,gnomAD rs907992467 22q11.22 22 22099143C> G null T S 100 100 missense 0.338 benign 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs767050100 22q11.22 22 22099142A> T null T S 100 100 missense 0.338 benign 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs538898205 22q11.22 22 22099148A> G null T A 102 102 2.0E-4 missense 0.035 benign 0.08 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,TOPMed,gnomAD rs368708667 22q11.22 22 22099149C> A null T K 102 102 missense 0.02 benign 0.05 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,TOPMed,gnomAD rs368708667 22q11.22 22 22099149C> T null T M 102 102 missense 0.14 benign 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ExAC,gnomAD rs538898205 22q11.22 22 22099148A> C null T P 102 102 2.0E-4 missense 0.738 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,TOPMed,gnomAD rs368708667 22q11.22 22 22099149C> G null T R 102 102 missense 0.02 benign 0.07 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs779053588 22q11.22 22 22099152G> A null G E 103 103 missense 0.529 possibly damaging 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1390723317 22q11.22 22 22099151G> C null G R 103 103 missense 0.529 possibly damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs758470753 22q11.22 22 22099155C> A null A D 104 104 missense 0.324 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs748370249 22q11.22 22 22099154G> C null A P 104 104 missense 0.324 benign 0.05 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,NCI-TCGA,gnomAD rs748370249 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22099154G> A null A T 104 104 missense 0.455 possibly damaging 0.15 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,NCI-TCGA,gnomAD rs758470753 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22099155C> T null A V 104 104 missense 0.901 possibly damaging 0.61 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs777813535 22q11.22 22 22099161C> A null A E 106 106 missense 0.033 benign 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1163879779 22q11.22 22 22099160G> T null A S 106 106 missense 0.033 benign 0.24 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1163879779 22q11.22 22 22099160G> A null A T 106 106 missense 0.001 benign 0.24 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs777813535 22q11.22 22 22099161C> T null A V 106 106 missense 0.033 benign 0.13 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs768470989 22q11.22 22 22099165T> G null D E 107 107 missense 0.0 benign 1.0 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs768470989 22q11.22 22 22099165T> A null D E 107 107 missense 0.0 benign 1.0 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs749089532 22q11.22 22 22099164A> G null D G 107 107 missense 0.155 benign 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs769724107 22q11.22 22 22099163G> A null D N 107 107 missense 0.007 benign 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs769724107 22q11.22 22 22099163G> T null D Y 107 107 missense 0.793 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1293956888 22q11.22 22 22099171A> T null E D 109 109 missense 0.978 probably damaging 0.06 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1293956888 22q11.22 22 22099171A> C null E D 109 109 missense 0.978 probably damaging 0.06 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs773946136 22q11.22 22 22099173C> G null S C 110 110 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs773946136 22q11.22 22 22099173C> T null S F 110 110 missense 0.515 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs761514638 22q11.22 22 22099175G> A null D N 111 111 missense 0.042 benign 0.03 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs761514638 22q11.22 22 22099175G> T null D Y 111 111 missense 0.806 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs772855304 22q11.22 22 22099179A> T null Y F 112 112 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs772855304 22q11.22 22 22099179A> C null Y S 112 112 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs765629700 22q11.22 22 22099183C> G null Y * 113 113 stop gained 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs754373269 22q11.22 22 22099182A> G null Y C 113 113 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs754373269 22q11.22 22 22099182A> T null Y F 113 113 missense 0.052 benign 0.06 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs767014569 22q11.22 22 22099181T> C null Y H 113 113 missense 0.052 benign 0.1 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371143444 22q11.22 22 22099184T> C null C R 114 114 2.0E-4 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,TOPMed,gnomAD rs374740487 22q11.22 22 22099185G> C null C S 114 114 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ESP,ExAC,TOPMed,gnomAD rs374740487 22q11.22 22 22099185G> A null C Y 114 114 missense 0.324 benign 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC rs780010149 22q11.22 22 22099188T> C null V A 115 115 missense 0.0 benign 1.0 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs751666346 22q11.22 22 22099187G> T null V L 115 115 missense 0.0 benign 0.55 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs751666346 22q11.22 22 22099187G> C null V L 115 115 missense 0.0 benign 0.55 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs768394036 22q11.22 22 22099190C> A null L M 116 116 missense 0.936 probably damaging 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs768394036 22q11.22 22 22099190C> G null L V 116 116 missense 0.108 benign 0.61 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs770808753 22q11.22 22 22099194A> G null Y C 117 117 missense 0.825 possibly damaging 0.01 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs770808753 22q11.22 22 22099194A> T null Y F 117 117 missense 0.013 benign 0.06 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 gnomAD rs1390006762 22q11.22 22 22099193T> C null Y H 117 117 missense 0.013 benign 0.09 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 Ensembl rs1568927951 22q11.22 22 22099193_22099194insCCTGGAGGTGTTCGGCGGAGGGACCAAGCTGACCGTCCTAGGTGAGTCTCT T null Y S 117 117 stop gained 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs770534662 22q11.22 22 22099196A> C null M L 118 118 missense 0.0 benign 0.76 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs770534662 22q11.22 22 22099196A> T null M L 118 118 missense 0.0 benign 0.76 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs770534662 22q11.22 22 22099196A> G null M V 118 118 missense 0.0 benign 0.6 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC rs765601245 22q11.22 22 22099200G> C null G A 119 119 missense 0.085 benign 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs760071599 22q11.22 22 22099199G> T null G C 119 119 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC rs765601245 22q11.22 22 22099200G> A null G D 119 119 missense 0.085 benign 0.08 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs760071599 22q11.22 22 22099199G> C null G R 119 119 missense 0.861 possibly damaging 0.02 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs760071599 22q11.22 22 22099199G> A null G S 119 119 missense 0.14 benign 0.22 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs763183903 22q11.22 22 22099202A> G null S G 120 120 missense 0.014 benign 0.05 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs764351963 22q11.22 22 22099203G> T null S I 120 120 missense 0.627 possibly damaging 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs764351963 22q11.22 22 22099203G> A null S N 120 120 missense 0.035 benign 0.08 tolerated 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,gnomAD rs751752067 22q11.22 22 22099204T> A null S R 120 120 missense 0.056 benign 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC,TOPMed,gnomAD rs763183903 22q11.22 22 22099202A> C null S R 120 120 missense 0.056 benign 0.0 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 Ensembl rs1568927996 22q11.22 22 22099206G> T null G V 121 121 missense 0.24 benign 0.04 deleterious 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC rs1555871835 22q11.22 22 22099210_22099211insCGGCGGAGGGACCAAGCTGACCGTCCTAGGTGAGTCTC T null I IRRRDQADRPR*VS 122 122 stop gained 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 ExAC rs757399443 22q11.22 22 22099208A> C null I L 122 122 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A075B6I0 IGLV8-61 Immunoglobulin lambda variable 8-61 Ensembl rs1568928029 22q11.22 22 22099210_22099211insGTTCGGCGGGGGGACCAAGCTGACCGTCCTAGGTGAGTCTCTT C null del VRRGDQADRPR*VS 123 123 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs563278854 22q11.22 22 22162202G> T null A S 2 2 5.99E-4 missense 0.938 probably damaging 0.05 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed rs1032005584 22q11.22 22 22162203C> T null A V 2 2 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs1434301091 22q11.22 22 22162207G> A null W * 3 3 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1173369160 22q11.22 22 22162209C> T null T I 4 4 missense 0.849 possibly damaging 0.18 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs767569419 22q11.22 22 22162212C> T null P L 5 5 missense 0.168 benign 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs750550052 22q11.22 22 22162214C> T null L F 6 6 missense 0.2 benign 0.14 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs756100129 22q11.22 22 22162217C> T null L F 7 7 missense 0.153 benign 0.1 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1052943185 22q11.22 22 22162218T> A null L H 7 7 missense 0.0 benign 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs765267456 22q11.22 22 22162220C> T null L F 8 8 missense 0.457 possibly damaging 0.13 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 Ensembl rs9611161 22q11.22 22 22162230C> A null P H 11 11 missense 0.146 benign 0.23 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 Ensembl rs9611161 22q11.22 22 22162230C> T null P L 11 11 missense 0.0 benign 0.53 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1233532376 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162229C> T null P S 11 11 missense 0.0 benign 0.94 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs1343963704 22q11.22 22 22162232C> T null L F 12 12 missense 0.664 possibly damaging 0.14 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs1343963704 22q11.22 22 22162232C> G null L V 12 12 missense 0.982 probably damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs1273967402 22q11.22 22 22162235C> T null L F 13 13 missense 0.529 possibly damaging 0.05 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs752544412 22q11.22 22 22162236T> C null L P 13 13 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs758334753 22q11.22 22 22162238C> T null L F 14 14 missense 0.007 benign 0.8 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs1023214048 22q11.22 22 22162242A> G null H R 15 15 missense 0.851 possibly damaging 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed rs1279695755 22q11.22 22 22162241C> T null H Y 15 15 missense 0.124 benign 0.26 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1251697960 22q11.22 22 22162246C> A null C * 16 16 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1451648599 22q11.22 22 22162247A> G null T A 17 17 missense 0.24 benign 0.06 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1382714377 22q11.22 22 22162372G> A null G E 18 18 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed rs965558981 22q11.22 22 22162250G> A null G R 18 18 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs772291739 22q11.22 22 22162374T> G null S A 19 19 missense 0.774 possibly damaging 0.05 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs760793417 22q11.22 22 22162375C> G null S C 19 19 missense 0.874 possibly damaging 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs772291739 22q11.22 22 22162374T> C null S P 19 19 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs764146037 22q11.22 22 22162378T> C null L P 20 20 missense 0.642 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs764146037 22q11.22 22 22162378T> G null L R 20 20 missense 0.69 possibly damaging 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs759646270 22q11.22 22 22162377C> G null L V 20 20 missense 0.958 probably damaging 0.05 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs761737466 22q11.22 22 22162380T> G null S A 21 21 missense 0.472 possibly damaging 0.33 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1349248229 22q11.22 22 22162381C> T null S F 21 21 missense 0.757 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs761737466 22q11.22 22 22162380T> C null S P 21 21 missense 0.457 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs755731089 22q11.22 22 22162384A> G null Q R 22 22 missense 0.667 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs753369807 22q11.22 22 22162386C> G null P A 23 23 missense 0.259 benign 0.09 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs753369807 22q11.22 22 22162386C> T null P S 23 23 missense 0.392 benign 0.14 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs560795470 22q11.22 22 22162390T> C null V A 24 24 2.0E-4 missense 0.227 benign 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs754463908 22q11.22 22 22162389G> C null V L 24 24 missense 0.324 benign 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs549247376 22q11.22 22 22162393T> C null L P 25 25 2.0E-4 missense 0.535 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs549247376 22q11.22 22 22162393T> G null L R 25 25 2.0E-4 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs190843139 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162392C> G null L V 25 25 5.99E-4 missense 0.551 possibly damaging 0.15 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1172922396 22q11.22 22 22162395A> G null T A 26 26 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375598661 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162398C> G null Q E 27 27 2.0E-4 missense 0.939 probably damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs370017122 22q11.22 22 22162399A> T null Q L 27 27 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs370017122 22q11.22 22 22162399A> C null Q P 27 27 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1392036291 22q11.22 22 22162401T> C null S P 28 28 missense 0.0 benign 1.0 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1392036291 22q11.22 22 22162401T> A null S T 28 28 missense 0.013 benign 0.09 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs551816560 22q11.22 22 22162405C> T null S F 29 29 2.0E-4 missense 0.013 benign 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs760470183 22q11.22 22 22162404T> C null S P 29 29 missense 0.0 benign 1.0 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs752193501 22q11.22 22 22162408C> T null S F 30 30 missense 0.535 possibly damaging 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs537742016 22q11.22 22 22162407T> C null S P 30 30 2.0E-4 missense 0.71 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs921392103 22q11.22 22 22162411C> A null A D 31 31 missense 0.531 possibly damaging 0.12 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs921392103 22q11.22 22 22162411C> G null A G 31 31 missense 0.203 benign 0.15 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs921392103 22q11.22 22 22162411C> T null A V 31 31 missense 0.013 benign 0.6 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs536328886 22q11.22 22 22162417C> A null A D 33 33 2.0E-4 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs536328886 22q11.22 22 22162417C> G null A G 33 33 2.0E-4 missense 0.343 benign 0.12 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs375528362 22q11.22 22 22162416G> C null A P 33 33 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs375528362 22q11.22 22 22162416G> A null A T 33 33 missense 0.476 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs536328886 22q11.22 22 22162417C> T null A V 33 33 2.0E-4 missense 0.271 benign 0.23 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs368918936 22q11.22 22 22162420C> G null S C 34 34 missense 0.747 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs759198551 22q11.22 22 22162423T> C null L P 35 35 missense 0.012 benign 0.28 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs759198551 22q11.22 22 22162423T> G null L R 35 35 missense 0.755 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs572915220 22q11.22 22 22162431T> G null S A 38 38 2.0E-4 missense 0.257 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114796103 22q11.22 22 22162432C> T null S L 38 38 0.01358 missense 0.257 benign 0.1 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs752071185 22q11.22 22 22162435T> C null V A 39 39 missense 0.006 benign 1.0 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs900902461 22q11.22 22 22162434G> T null V F 39 39 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs752071185 22q11.22 22 22162435T> G null V G 39 39 missense 0.383 benign 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs900902461 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162434G> A null V I 39 39 missense 0.127 benign 0.1 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186692431 22q11.22 22 22162439G> T null K N 40 40 2.0E-4 missense 0.034 benign 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186692431 22q11.22 22 22162439G> C null K N 40 40 2.0E-4 missense 0.034 benign 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs757760514 22q11.22 22 22162438A> G null K R 40 40 missense 0.001 benign 0.87 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs757760514 22q11.22 22 22162438A> C null K T 40 40 missense 0.061 benign 0.2 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs749377740 22q11.22 22 22162440C> T null L F 41 41 missense 0.75 possibly damaging 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs749377740 22q11.22 22 22162440C> G null L V 41 41 missense 0.774 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs746949786 22q11.22 22 22162443A> G null T A 42 42 missense 0.729 possibly damaging 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs746949786 22q11.22 22 22162443A> C null T P 42 42 missense 0.562 possibly damaging 0.05 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs746949786 22q11.22 22 22162443A> T null T S 42 42 missense 0.623 possibly damaging 0.31 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs373541172 22q11.22 22 22162446T> C null C R 43 43 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs373541172 22q11.22 22 22162446T> A null C S 43 43 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1357763767 22q11.22 22 22162447G> A null C Y 43 43 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs560734507 22q11.22 22 22162449A> G null T A 44 44 3.99E-4 missense 0.166 benign 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs529878356 22q11.22 22 22162450C> T null T I 44 44 3.99E-4 missense 0.903 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs560734507 22q11.22 22 22162449A> C null T P 44 44 3.99E-4 missense 0.409 benign 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs529878356 22q11.22 22 22162450C> G null T S 44 44 3.99E-4 missense 0.51 possibly damaging 0.05 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs560734507 22q11.22 22 22162449A> T null T S 44 44 3.99E-4 missense 0.51 possibly damaging 0.05 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs540446012 22q11.22 22 22162452C> A null L M 45 45 2.0E-4 missense 0.928 probably damaging 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs756526100 22q11.22 22 22162453T> C null L P 45 45 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 Ensembl rs1555880889 22q11.22 22 22162455A> G null S G 46 46 missense 0.324 benign 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs376786038 22q11.22 22 22162456G> A null S N 46 46 3.99E-4 missense 0.455 possibly damaging 0.05 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs551751107 22q11.22 22 22162457C> A null S R 46 46 5.99E-4 missense 0.56 possibly damaging 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs376786038 22q11.22 22 22162456G> C null S T 46 46 3.99E-4 missense 0.701 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs571713556 22q11.22 22 22162459G> A null S N 47 47 2.0E-4 missense 0.594 possibly damaging 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs745707911 22q11.22 22 22162462G> C null G A 48 48 missense 0.341 benign 0.12 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs745707911 22q11.22 22 22162462G> A null G E 48 48 missense 0.229 benign 0.62 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs762652477 22q11.22 22 22162464C> G null H D 49 49 missense 0.143 benign 0.05 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs531218712 22q11.22 22 22162465A> T null H L 49 49 2.0E-4 missense 0.003 benign 0.24 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs531218712 22q11.22 22 22162465A> C null H P 49 49 2.0E-4 missense 0.487 possibly damaging 0.05 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs954002254 22q11.22 22 22162466C> A null H Q 49 49 missense 0.33 benign 0.09 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs531218712 22q11.22 22 22162465A> G null H R 49 49 2.0E-4 missense 0.021 benign 0.12 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs762652477 22q11.22 22 22162464C> T null H Y 49 49 missense 0.006 benign 0.74 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs551328414 22q11.22 22 22162467A> T null S C 50 50 2.0E-4 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs551328414 22q11.22 22 22162467A> G null S G 50 50 2.0E-4 missense 0.11 benign 0.09 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs567826008 22q11.22 22 22162468G> T null S I 50 50 3.99E-4 missense 0.259 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,NCI-TCGA,gnomAD rs567826008 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162468G> A null S N 50 50 3.99E-4 missense 0.047 benign 0.16 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs778959737 22q11.22 22 22162469T> G null S R 50 50 missense 0.234 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs778959737 22q11.22 22 22162469T> A null S R 50 50 missense 0.234 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs551328414 22q11.22 22 22162467A> C null S R 50 50 2.0E-4 missense 0.234 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs567826008 22q11.22 22 22162468G> C null S T 50 50 3.99E-4 missense 0.392 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs536416304 22q11.22 22 22162470A> T null S C 51 51 5.99E-4 missense 0.071 benign 0.05 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs536416304 22q11.22 22 22162470A> G null S G 51 51 5.99E-4 missense 0.005 benign 0.62 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs78099525 22q11.22 22 22162471G> T null S I 51 51 missense 0.05 benign 0.13 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs78099525 22q11.22 22 22162471G> A null S N 51 51 missense 0.012 benign 0.62 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191540570 22q11.22 22 22162472C> A null S R 51 51 missense 0.047 benign 0.11 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191540570 22q11.22 22 22162472C> G null S R 51 51 missense 0.047 benign 0.11 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs78099525 22q11.22 22 22162471G> C null S T 51 51 missense 0.034 benign 0.57 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1485389179 22q11.22 22 22162475C> A null Y * 52 52 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs370278164 22q11.22 22 22162474A> G null Y C 52 52 missense 0.149 benign 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs377758528 22q11.22 22 22162473T> G null Y D 52 52 3.99E-4 missense 0.766 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs370278164 22q11.22 22 22162474A> T null Y F 52 52 missense 0.045 benign 0.08 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs377758528 22q11.22 22 22162473T> C null Y H 52 52 3.99E-4 missense 0.103 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs377758528 22q11.22 22 22162473T> A null Y N 52 52 3.99E-4 missense 0.166 benign 0.05 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs183095995 22q11.22 22 22162476A> T null I F 53 53 3.99E-4 missense 0.018 benign 0.69 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs777081892 22q11.22 22 22162477T> G null I S 53 53 missense 0.0 benign 0.41 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs777081892 22q11.22 22 22162477T> C null I T 53 53 missense 0.0 benign 0.41 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs183095995 22q11.22 22 22162476A> G null I V 53 53 3.99E-4 missense 0.0 benign 0.49 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs764143487 22q11.22 22 22162480T> A null I N 54 54 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs764143487 22q11.22 22 22162480T> C null I T 54 54 missense 0.729 possibly damaging 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs758539184 22q11.22 22 22162479A> G null I V 54 54 missense 0.375 benign 0.5 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 Ensembl rs1568964491 22q11.22 22 22162483C> G null A G 55 55 missense 0.007 benign 0.33 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs779807723 22q11.22 22 22162482G> C null A P 55 55 missense 0.487 possibly damaging 0.2 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs779807723 22q11.22 22 22162482G> T null A S 55 55 missense 0.011 benign 0.41 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,NCI-TCGA,TOPMed,gnomAD rs779807723 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162482G> A null A T 55 55 missense 0.013 benign 0.39 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs772855447 22q11.22 22 22162487G> A null W * 56 56 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs772855447 22q11.22 22 22162487G> C null W C 56 56 missense 0.887 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC rs771795976 22q11.22 22 22162485T> C null W R 56 56 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC rs771488698 22q11.22 22 22162489A> T null H L 57 57 missense 0.001 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC rs771488698 22q11.22 22 22162489A> C null H P 57 57 missense 0.218 benign 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 Ensembl rs1568964510 22q11.22 22 22162490T> G null H Q 57 57 missense 0.003 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC rs771488698 22q11.22 22 22162489A> G null H R 57 57 missense 0.125 benign 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1287532872 22q11.22 22 22162488C> T null H Y 57 57 missense 0.0 benign 1.0 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs759985667 22q11.22 22 22162491C> T null Q * 58 58 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs759985667 22q11.22 22 22162491C> G null Q E 58 58 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs775745645 22q11.22 22 22162493G> C null Q H 58 58 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 Ensembl rs1555880908 22q11.22 22 22162492A> G null Q R 58 58 missense 0.529 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs764262064 22q11.22 22 22162494C> T null Q * 59 59 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs764262064 22q11.22 22 22162494C> G null Q E 59 59 missense 0.863 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs766379583 22q11.22 22 22162496G> C null Q H 59 59 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs766379583 22q11.22 22 22162496G> T null Q H 59 59 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs751662182 22q11.22 22 22162495A> T null Q L 59 59 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs751662182 22q11.22 22 22162495A> C null Q P 59 59 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs751662182 22q11.22 22 22162495A> G null Q R 59 59 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs754864365 22q11.22 22 22162497C> T null Q * 60 60 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs777516535 22q11.22 22 22162499G> T null Q H 60 60 missense 0.051 benign 0.16 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs754864365 22q11.22 22 22162497C> A null Q K 60 60 missense 0.003 benign 1.0 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs558121674 22q11.22 22 22162498A> T null Q L 60 60 2.0E-4 missense 0.013 benign 0.23 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs558121674 22q11.22 22 22162498A> C null Q P 60 60 2.0E-4 missense 0.544 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs558121674 22q11.22 22 22162498A> G null Q R 60 60 2.0E-4 missense 0.022 benign 0.35 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs770312894 22q11.22 22 22162501C> G null P R 61 61 missense 0.235 benign 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1257592346 22q11.22 22 22162500C> T null P S 61 61 missense 0.283 benign 0.05 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs746347566 22q11.22 22 22162503G> C null G R 62 62 missense 0.537 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs746347566 22q11.22 22 22162503G> A null G R 62 62 missense 0.537 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs770226864 22q11.22 22 22162506A> G null K E 63 63 missense 0.036 benign 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs775835422 22q11.22 22 22162507A> G null K R 63 63 missense 0.103 benign 0.1 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed rs1310627853 22q11.22 22 22162509G> C null A P 64 64 missense 0.003 benign 0.7 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs1419058278 22q11.22 22 22162510C> T null A V 64 64 missense 0.035 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 Ensembl rs369646258 22q11.22 22 22162513C> G null P R 65 65 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1246268895 22q11.22 22 22162512C> T null P S 65 65 missense 0.906 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs371776623 22q11.22 22 22162516G> C null R P 66 66 missense 0.892 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371776623 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162516G> A null R Q 66 66 missense 0.071 benign 0.18 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs762019679 22q11.22 22 22162515C> T null R W 66 66 missense 0.097 benign 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs544082158 22q11.22 22 22162520C> G null Y * 67 67 3.99E-4 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs374883744 22q11.22 22 22162519A> G null Y C 67 67 missense 0.844 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs374883744 22q11.22 22 22162519A> T null Y F 67 67 missense 0.324 benign 0.4 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1373301622 22q11.22 22 22162518T> C null Y H 67 67 missense 0.56 possibly damaging 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1373301622 22q11.22 22 22162518T> A null Y N 67 67 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs374883744 22q11.22 22 22162519A> C null Y S 67 67 missense 0.606 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1389553046 22q11.22 22 22162522T> A null L * 68 68 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,NCI-TCGA,gnomAD rs554418977 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162523G> T null L F 68 68 2.0E-4 missense 0.873 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs554418977 22q11.22 22 22162523G> C null L F 68 68 2.0E-4 missense 0.873 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs745308201 22q11.22 22 22162521T> A null L M 68 68 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs370708033 22q11.22 22 22162526G> A null M I 69 69 missense 0.036 benign 0.24 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs769004051 22q11.22 22 22162524A> T null M L 69 69 missense 0.003 benign 1.0 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs761958632 22q11.22 22 22162525T> G null M R 69 69 missense 0.816 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs761958632 22q11.22 22 22162525T> C null M T 69 69 missense 0.582 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs769004051 22q11.22 22 22162524A> G null M V 69 69 missense 0.063 benign 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs574694364 22q11.22 22 22162527A> G null K E 70 70 2.0E-4 missense 0.001 benign 0.27 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed rs540014769 22q11.22 22 22162528A> T null K M 70 70 2.0E-4 missense 0.01 benign 0.17 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs189760597 22q11.22 22 22162529G> C null K N 70 70 missense 0.0 benign 0.28 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs574694364 22q11.22 22 22162527A> C null K Q 70 70 2.0E-4 missense 0.006 benign 0.29 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed rs540014769 22q11.22 22 22162528A> G null K R 70 70 2.0E-4 missense 0.0 benign 0.45 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed rs540014769 22q11.22 22 22162528A> C null K T 70 70 2.0E-4 missense 0.0 benign 0.34 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs375413070 22q11.22 22 22162530C> T null L F 71 71 missense 0.005 benign 0.34 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs375413070 22q11.22 22 22162530C> A null L I 71 71 missense 0.137 benign 0.12 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs375413070 22q11.22 22 22162530C> G null L V 71 71 missense 0.005 benign 0.98 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs560296166 22q11.22 22 22162534A> C null E A 72 72 2.0E-4 missense 0.003 benign 0.67 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs369851306 22q11.22 22 22162535A> T null E D 72 72 3.99E-4 missense 0.065 benign 0.56 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1255458577 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162533G> C null E Q 72 72 missense 0.009 benign 0.52 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs565260733 22q11.22 22 22162537G> C null G A 73 73 2.0E-4 missense 0.007 benign 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs138271962 22q11.22 22 22162536G> T null G C 73 73 5.99E-4 missense 0.703 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs565260733 22q11.22 22 22162537G> A null G D 73 73 2.0E-4 missense 0.009 benign 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs138271962 22q11.22 22 22162536G> C null G R 73 73 5.99E-4 missense 0.005 benign 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs138271962 22q11.22 22 22162536G> A null G S 73 73 5.99E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs772208150 22q11.22 22 22162539A> T null S C 74 74 missense 0.761 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs772208150 22q11.22 22 22162539A> G null S G 74 74 missense 0.001 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74528122 22q11.22 22 22162540G> A null S N 74 74 0.008586 missense 0.001 benign 0.11 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs772208150 22q11.22 22 22162539A> C null S R 74 74 missense 0.25 benign 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74528122 22q11.22 22 22162540G> C null S T 74 74 0.008586 missense 0.015 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs551017194 22q11.22 22 22162542G> A null G R 75 75 2.0E-4 missense 0.78 possibly damaging 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs567826954 22q11.22 22 22162545A> T null S C 76 76 3.99E-4 missense 0.824 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs567826954 22q11.22 22 22162545A> G null S G 76 76 3.99E-4 missense 0.143 benign 0.15 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs369368652 22q11.22 22 22162546G> T null S I 76 76 missense 0.021 benign 0.19 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs369368652 22q11.22 22 22162546G> A null S N 76 76 missense 0.007 benign 0.38 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372802349 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162547C> G null S R 76 76 3.99E-4 missense 0.03 benign 0.13 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372802349 22q11.22 22 22162547C> A null S R 76 76 3.99E-4 missense 0.03 benign 0.13 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs567826954 22q11.22 22 22162545A> C null S R 76 76 3.99E-4 missense 0.03 benign 0.13 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,TOPMed,gnomAD rs369368652 22q11.22 22 22162546G> C null S T 76 76 missense 0.013 benign 0.35 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs567096325 22q11.22 22 22162550C> G null Y * 77 77 2.0E-4 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs779430407 22q11.22 22 22162549A> G null Y C 77 77 missense 0.201 benign 0.15 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs779430407 22q11.22 22 22162549A> T null Y F 77 77 missense 0.034 benign 0.61 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,TOPMed rs377230235 22q11.22 22 22162548T> C null Y H 77 77 2.0E-4 missense 0.0 benign 0.86 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs779430407 22q11.22 22 22162549A> C null Y S 77 77 missense 0.0 benign 0.54 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1306933958 22q11.22 22 22162551A> G null N D 78 78 missense 0.001 benign 0.4 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs551881892 22q11.22 22 22162553C> G null N K 78 78 5.99E-4 missense 0.009 benign 0.43 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs538330874 22q11.22 22 22162552A> G null N S 78 78 3.99E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs538330874 22q11.22 22 22162552A> C null N T 78 78 3.99E-4 missense 0.009 benign 0.39 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs1469337682 22q11.22 22 22162554A> T null K * 79 79 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs1469337682 22q11.22 22 22162554A> G null K E 79 79 missense 0.061 benign 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs182062284 22q11.22 22 22162555A> G null K R 79 79 2.0E-4 missense 0.034 benign 0.52 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs182062284 22q11.22 22 22162555A> C null K T 79 79 2.0E-4 missense 0.291 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed rs1208366681 22q11.22 22 22162558G> C null G A 80 80 missense 0.397 benign 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs537417930 22q11.22 22 22162557G> A null G R 80 80 2.0E-4 missense 0.5 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs554560636 22q11.22 22 22162560A> T null S C 81 81 2.0E-4 missense 0.811 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs554560636 22q11.22 22 22162560A> G null S G 81 81 2.0E-4 missense 0.245 benign 0.05 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs765980729 22q11.22 22 22162561G> A null S N 81 81 missense 0.027 benign 0.1 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs554560636 22q11.22 22 22162560A> C null S R 81 81 2.0E-4 missense 0.446 possibly damaging 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs574600536 22q11.22 22 22162562C> G null S R 81 81 3.99E-4 missense 0.446 possibly damaging 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes rs534141142 22q11.22 22 22162564G> C null G A 82 82 2.0E-4 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes rs534141142 22q11.22 22 22162564G> A null G E 82 82 2.0E-4 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,NCI-TCGA,TOPMed,gnomAD rs747059706 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162563G> A null G R 82 82 missense 0.923 probably damaging 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs374270377 22q11.22 22 22162566G> A null V I 83 83 missense 0.017 benign 1.0 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs374270377 22q11.22 22 22162566G> C null V L 83 83 missense 0.068 benign 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs757582575 22q11.22 22 22162570C> T null P L 84 84 missense 0.808 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs757582575 22q11.22 22 22162570C> G null P R 84 84 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs751906280 22q11.22 22 22162569C> T null P S 84 84 missense 0.863 possibly damaging 0.05 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs751906280 22q11.22 22 22162569C> A null P T 84 84 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs769915018 22q11.22 22 22162573A> C null D A 85 85 missense 0.417 benign 0.08 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs771334116 22q11.22 22 22162572G> C null D H 85 85 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377687344 22q11.22 22 22162575C> T null R C 86 86 5.99E-4 missense 0.343 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377687344 22q11.22 22 22162575C> G null R G 86 86 5.99E-4 missense 0.343 benign 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs771841939 22q11.22 22 22162576G> A null R H 86 86 missense 0.242 benign 0.05 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1288352478 22q11.22 22 22162579T> G null F C 87 87 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs576999991 22q11.22 22 22162578T> C null F L 87 87 2.0E-4 missense 0.664 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs770621476 22q11.22 22 22162580C> G null F L 87 87 missense 0.664 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1288352478 22q11.22 22 22162579T> C null F S 87 87 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 Ensembl rs988560559 22q11.22 22 22162582C> G null S * 88 88 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1217024999 22q11.22 22 22162581T> G null S A 88 88 missense 0.907 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,NCI-TCGA,gnomAD rs764786555 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162585G> A null G D 89 89 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1474243311 22q11.22 22 22162584G> A null G S 89 89 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs371279677 22q11.22 22 22162587T> G null S A 90 90 missense 0.958 probably damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed rs1382718095 22q11.22 22 22162588C> T null S F 90 90 missense 0.75 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs371279677 22q11.22 22 22162587T> C null S P 90 90 missense 0.664 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1162635566 22q11.22 22 22162590A> G null S G 91 91 missense 0.012 benign 0.39 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs187948661 22q11.22 22 22162591G> T null S I 91 91 5.99E-4 missense 0.08 benign 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs187948661 22q11.22 22 22162591G> A null S N 91 91 5.99E-4 missense 0.448 possibly damaging 0.15 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs374752274 22q11.22 22 22162592C> G null S R 91 91 missense 0.05 benign 0.08 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs187948661 22q11.22 22 22162591G> C null S T 91 91 5.99E-4 missense 0.009 benign 0.3 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1317426652 22q11.22 22 22162593T> G null S A 92 92 missense 0.774 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115153265 22q11.22 22 22162597G> T null G V 93 93 0.03994 missense 0.086 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs780188141 22q11.22 22 22162599G> A null A T 94 94 missense 0.022 benign 0.47 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 Ensembl rs1568964795 22q11.22 22 22162602G> T null D Y 95 95 missense 0.434 benign 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2073453 22q11.22 22 22162605C> T null R C 96 96 0.3325 missense 0.012 benign 0.19 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs530320756 22q11.22 22 22162606G> A null R H 96 96 2.0E-4 missense 0.012 benign 0.38 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs530320756 22q11.22 22 22162606G> T null R L 96 96 2.0E-4 missense 0.012 benign 0.41 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1224651924 22q11.22 22 22162610C> G null Y * 97 97 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs547306043 22q11.22 22 22162609A> G null Y C 97 97 2.0E-4 missense 0.892 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs547306043 22q11.22 22 22162609A> T null Y F 97 97 2.0E-4 missense 0.013 benign 0.19 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs777668394 22q11.22 22 22162608T> C null Y H 97 97 missense 0.805 possibly damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed,gnomAD rs777668394 22q11.22 22 22162608T> A null Y N 97 97 missense 0.086 benign 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,TOPMed,gnomAD rs547306043 22q11.22 22 22162609A> C null Y S 97 97 2.0E-4 missense 0.096 benign 0.06 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,NCI-TCGA,gnomAD rs560499217 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162611C> T null L F 98 98 2.0E-4 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs560499217 22q11.22 22 22162611C> G null L V 98 98 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs373961102 22q11.22 22 22162614A> G null T A 99 99 3.99E-4 missense 0.321 benign 0.07 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1257805383 22q11.22 22 22162615C> T null T I 99 99 missense 0.085 benign 0.07 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,gnomAD rs373961102 22q11.22 22 22162614A> T null T S 99 99 3.99E-4 missense 0.103 benign 0.41 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1257805383 22q11.22 22 22162615C> G null T S 99 99 missense 0.103 benign 0.41 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1485053124 22q11.22 22 22162617A> G null I V 100 100 missense 0.774 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1234504094 22q11.22 22 22162623A> G null N D 102 102 missense 0.015 benign 0.15 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs565367813 22q11.22 22 22162625C> G null N K 102 102 missense 0.102 benign 0.07 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs752108836 22q11.22 22 22162624A> G null N S 102 102 missense 0.003 benign 0.2 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs762327414 22q11.22 22 22162626C> T null L F 103 103 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs1436357612 22q11.22 22 22162627T> A null L H 103 103 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs762327414 22q11.22 22 22162626C> A null L I 103 103 missense 0.667 possibly damaging 0.45 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs1436357612 22q11.22 22 22162627T> C null L P 103 103 missense 0.802 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs762327414 22q11.22 22 22162626C> G null L V 103 103 missense 0.451 possibly damaging 0.33 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs750687233 22q11.22 22 22162632T> C null F L 105 105 missense 0.0 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs738885 22q11.22 22 22162633T> C null F S 105 105 0.07508 missense 0.0 benign 0.52 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs750687233 22q11.22 22 22162632T> G null F V 105 105 missense 0.001 benign 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs738885 22q11.22 22 22162633T> A null F Y 105 105 0.07508 missense 0.0 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs766466532 22q11.22 22 22162637G> C null E D 106 106 missense 0.535 possibly damaging 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1414237922 22q11.22 22 22162635G> A null E K 106 106 missense 0.667 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs374313786 22q11.22 22 22162639A> C null D A 107 107 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs755023305 22q11.22 22 22162640T> A null D E 107 107 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs777752116 22q11.22 22 22162644G> A null A T 109 109 missense 0.906 possibly damaging 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs368531437 22q11.22 22 22162648A> C null D A 110 110 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs774983594 22q11.22 22 22162649T> G null D E 110 110 missense 0.324 benign 0.16 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs774983594 22q11.22 22 22162649T> A null D E 110 110 missense 0.324 benign 0.16 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs368531437 22q11.22 22 22162648A> G null D G 110 110 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs757124280 22q11.22 22 22162647G> C null D H 110 110 missense 0.423 benign 0.03 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ESP,ExAC,gnomAD rs368531437 22q11.22 22 22162648A> T null D V 110 110 missense 0.56 possibly damaging 0.11 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs773941580 22q11.22 22 22162651A> G null Y C 111 111 missense 0.951 probably damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs773941580 22q11.22 22 22162651A> T null Y F 111 111 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs748846230 22q11.22 22 22162650T> C null Y H 111 111 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs748846230 22q11.22 22 22162650T> A null Y N 111 111 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs568573758 22q11.22 22 22162654A> G null Y C 112 112 2.0E-4 missense 0.628 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs568573758 22q11.22 22 22162654A> T null Y F 112 112 2.0E-4 missense 0.324 benign 0.13 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs768098610 22q11.22 22 22162653T> C null Y H 112 112 missense 0.324 benign 0.06 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,NCI-TCGA,gnomAD rs568573758 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162654A> C null Y S 112 112 2.0E-4 missense 0.701 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs766667796 22q11.22 22 22162658T> G null C W 113 113 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 gnomAD rs1455410388 22q11.22 22 22162657G> A null C Y 113 113 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs537554340 22q11.22 22 22162660A> C null E A 114 114 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,gnomAD rs752704994 22q11.22 22 22162666G> A null W * 116 116 stop gained 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs568086385 22q11.22 22 22162665T> G null W G 116 116 2.0E-4 missense 0.012 benign 0.23 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 TOPMed,gnomAD rs1410620335 22q11.22 22 22162670C> G null D E 117 117 missense 0.051 benign 0.08 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes rs533826410 22q11.22 22 22162671A> G null S G 118 118 2.0E-4 missense 0.005 benign 0.33 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC rs192463945 22q11.22 22 22162672G> T null S I 118 118 missense 0.593 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC rs192463945 22q11.22 22 22162672G> A null S N 118 118 missense 0.051 benign 0.11 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,NCI-TCGA,gnomAD rs554060001 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162673T> A null S R 118 118 3.99E-4 missense 0.048 benign 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC,gnomAD rs554060001 22q11.22 22 22162673T> G null S R 118 118 3.99E-4 missense 0.048 benign 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ExAC rs192463945 22q11.22 22 22162672G> C null S T 118 118 missense 0.03 benign 0.14 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372291894 22q11.22 22 22162674A> G null N D 119 119 2.0E-4 missense 0.045 benign 0.28 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372291894 22q11.22 22 22162674A> C null N H 119 119 2.0E-4 missense 0.233 benign 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,NCI-TCGA rs747615539 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162676C> A null N K 119 119 missense 0.109 benign 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC rs747615539 22q11.22 22 22162676C> G null N K 119 119 missense 0.109 benign 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC rs774031168 22q11.22 22 22162675A> G null N S 119 119 missense 0.046 benign 0.84 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372291894 22q11.22 22 22162674A> T null N Y 119 119 2.0E-4 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed rs772686380 22q11.22 22 22162677A> G null T A 120 120 missense 0.165 benign 0.04 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,NCI-TCGA,TOPMed,gnomAD rs183795322 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22162678C> T null T I 120 120 5.99E-4 missense 0.758 possibly damaging 0.01 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 ExAC,TOPMed rs772686380 22q11.22 22 22162677A> C null T P 120 120 missense 0.955 probably damaging 0.02 deleterious 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 1000Genomes,TOPMed,gnomAD rs183795322 22q11.22 22 22162678C> G null T S 120 120 5.99E-4 missense 0.088 benign 1.0 tolerated 0 A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 Ensembl rs1568964952 22q11.22 22 22162679_22162680insTCTACAACTTATGAACCAAATATATGCCCTTCATCTAGGGAGCTGCATAGGAGATAAAAGAACCATCTCAGGGTCCAGCAGCATCTTAGAGCTCTGCAGATTTTTGGAAAGTTT A null del STTYEPNICPSSRELHRR*KNHLRVQQHLRALQIFGKF 121 121 stop gained 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ExAC,TOPMed,gnomAD rs117609231 22q11.22 22 22201682T> C null L P 3 3 0.001198 missense 0.455 possibly damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ExAC,TOPMed,gnomAD rs117609231 22q11.22 22 22201682T> A null L Q 3 3 0.001198 missense 0.361 benign 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ExAC,TOPMed,gnomAD rs559435606 22q11.22 22 22201688C> T null P L 5 5 2.0E-4 missense 0.012 benign 0.08 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs763380703 22q11.22 22 22201687C> A null P T 5 5 missense 0.251 benign 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed,gnomAD rs1466449947 22q11.22 22 22201690C> T null L F 6 6 missense 0.586 possibly damaging 0.08 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed,gnomAD rs1466449947 22q11.22 22 22201690C> G null L V 6 6 missense 0.006 benign 0.34 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 Ensembl rs907543198 22q11.22 22 22201693C> T null L F 7 7 missense 0.015 benign 0.05 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1037566179 22q11.22 22 22201702C> T null L F 10 10 missense 0.007 benign 0.19 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 Ensembl rs899110292 22q11.22 22 22201705C> T null L F 11 11 missense 0.012 benign 0.08 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1279978357 22q11.22 22 22201709C> G null S C 12 12 missense 0.011 benign 0.07 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1402636807 22q11.22 22 22201708T> C null S P 12 12 missense 0.405 benign 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed rs1390407001 22q11.22 22 22201717A> G null T A 15 15 missense 0.007 benign 0.06 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs765213583 22q11.22 22 22201839G> C null G A 16 16 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ExAC,TOPMed,gnomAD rs61749483 22q11.22 22 22201720G> C null G R 16 16 0.01717 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374695710 22q11.22 22 22201851G> C null R P 20 20 5.99E-4 missense 0.0 benign 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374695710 22q11.22 22 22201851G> A null R Q 20 20 5.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,NCI-TCGA,TOPMed,gnomAD rs563366562 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22201850C> T null R W 20 20 missense 0.288 benign 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1442349687 22q11.22 22 22201854C> T null P L 21 21 missense 0.08 benign 0.07 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs747060459 22q11.22 22 22201856G> T null V L 22 22 missense 0.009 benign 0.05 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs747060459 22q11.22 22 22201856G> A null V M 22 22 missense 0.605 possibly damaging 0.06 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs749764541 22q11.22 22 22201860T> C null L P 23 23 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,NCI-TCGA,TOPMed,gnomAD rs774625943 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22201869C> T null P L 26 26 missense 0.042 benign 0.07 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed rs940346337 22q11.22 22 22201872C> T null P L 27 27 missense 0.307 benign 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ExAC,TOPMed,gnomAD rs566269246 22q11.22 22 22201871C> T null P S 27 27 2.0E-4 missense 0.011 benign 0.1 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 Ensembl rs1568988437 22q11.22 22 22201875C> T null S F 28 28 missense 0.487 possibly damaging 0.04 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed rs773405801 22q11.22 22 22201874T> C null S P 28 28 missense 0.631 possibly damaging 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs762823557 22q11.22 22 22201886T> A null S T 32 32 missense 0.472 possibly damaging 0.03 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs751355816 22q11.22 22 22201890C> T null P L 33 33 missense 0.001 benign 1.0 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368002354 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22201889C> T null P S 33 33 missense 0.003 benign 0.09 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1242843351 22q11.22 22 22201892G> C null G R 34 34 missense 0.413 benign 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371882477 22q11.22 22 22201906A> C null R S 38 38 2.0E-4 missense 0.33 benign 0.04 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed rs1465883759 22q11.22 22 22201907C> A null L I 39 39 missense 0.152 benign 0.07 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,NCI-TCGA,gnomAD rs779743202 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22201910C> T null P S 40 40 missense 0.007 benign 0.29 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed,gnomAD rs939629564 22q11.22 22 22201915C> A null C * 41 41 stop gained 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed rs931876841 22q11.22 22 22201913T> C null C R 41 41 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs748807721 22q11.22 22 22201914G> A null C Y 41 41 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs779469465 22q11.22 22 22201923G> T null S I 44 44 missense 0.811 possibly damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC rs772435874 22q11.22 22 22201931C> G null L V 47 47 missense 0.007 benign 0.41 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1448809430 22q11.22 22 22201935G> T null S I 48 48 missense 0.746 possibly damaging 0.07 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 Ensembl rs944561461 22q11.22 22 22201946A> G null K E 52 52 missense 0.018 benign 0.03 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs747260414 22q11.22 22 22201950A> T null N I 53 53 missense 0.498 possibly damaging 0.4 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs747260414 22q11.22 22 22201950A> C null N T 53 53 missense 0.129 benign 0.49 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 Ensembl rs1041132403 22q11.22 22 22201954G> A null M I 54 54 missense 0.0 benign 1.0 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs771089408 22q11.22 22 22201952A> T null M L 54 54 missense 0.001 benign 0.04 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed rs1230222939 22q11.22 22 22201953T> C null M T 54 54 missense 0.031 benign 0.07 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs771089408 22q11.22 22 22201952A> G null M V 54 54 missense 0.001 benign 0.31 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ESP,ExAC,gnomAD rs372715449 22q11.22 22 22201955T> C null F L 55 55 missense 0.023 benign 0.15 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs759634643 22q11.22 22 22201960G> A null W * 56 56 stop gained 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 Ensembl rs759947991 22q11.22 22 22201959G> A null W * 56 56 stop gained 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs759634643 22q11.22 22 22201960G> T null W C 56 56 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ESP,ExAC,gnomAD rs375525839 22q11.22 22 22201963C> A null Y * 57 57 stop gained 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1234530639 22q11.22 22 22201961T> A null Y N 57 57 missense 0.322 benign 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ESP,ExAC,TOPMed,gnomAD rs368910540 22q11.22 22 22201964C> T null Q * 58 58 stop gained 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1200961218 22q11.22 22 22201966G> T null Q H 58 58 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ESP,ExAC,TOPMed,gnomAD rs368910540 22q11.22 22 22201964C> A null Q K 58 58 missense 0.17 benign 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs761598871 22q11.22 22 22201971A> G null K R 60 60 missense 0.566 possibly damaging 0.2 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs9306341 22q11.22 22 22201974T> C null L P 61 61 0.4441 missense 0.0 benign 1.0 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs750205133 22q11.22 22 22201973C> G null L V 61 61 missense 0.0 benign 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369473499 22q11.22 22 22201981C> G null S R 63 63 7.99E-4 missense 0.898 possibly damaging 0.08 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ExAC,gnomAD rs573580490 22q11.22 22 22201986C> G null P R 65 65 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1178709313 22q11.22 22 22201985C> T null P S 65 65 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs778225750 22q11.22 22 22201990G> C null R S 66 66 missense 0.001 benign 0.04 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs758860867 22q11.22 22 22201998T> C null L P 69 69 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1369799076 22q11.22 22 22202001A> G null Y C 70 70 missense 0.968 probably damaging 0.1 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs778129495 22q11.22 22 22202007A> G null Y C 72 72 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 Ensembl rs767233254 22q11.22 22 22202006T> C null Y H 72 72 missense 0.999 probably damaging 0.23 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1221027586 22q11.22 22 22202009T> G null S A 73 73 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1274073278 22q11.22 22 22202010C> T null S L 73 73 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1221027586 22q11.22 22 22202009T> A null S T 73 73 missense 0.994 probably damaging 0.18 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed,gnomAD rs1201991562 22q11.22 22 22202013A> C null D A 74 74 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1181861373 22q11.22 22 22202020C> G null D E 76 76 missense 0.05 benign 0.06 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,NCI-TCGA,TOPMed,gnomAD rs745996404 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22202018G> C null D H 76 76 missense 0.767 possibly damaging 0.03 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1198130521 22q11.22 22 22202022A> T null K M 77 77 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed rs1458284554 22q11.22 22 22202024C> T null Q * 78 78 stop gained 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed,gnomAD rs960181642 22q11.22 22 22202031G> A null G E 80 80 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 Ensembl rs1568988609 22q11.22 22 22202037G> A null G E 82 82 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs761875484 22q11.22 22 22202040T> C null V A 83 83 missense 0.746 possibly damaging 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs775366365 22q11.22 22 22202039G> T null V F 83 83 missense 0.91 probably damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed rs1238243813 22q11.22 22 22202043C> T null P L 84 84 missense 0.395 benign 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1426575286 22q11.22 22 22202045A> C null S R 85 85 missense 0.207 benign 0.08 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs772088152 22q11.22 22 22202048C> T null R * 86 86 stop gained 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs188903924 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22202049G> A null R Q 86 86 3.99E-4 missense 0.015 benign 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed rs1241103268 22q11.22 22 22202057G> A null G S 89 89 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1425353833 22q11.22 22 22202058G> T null G V 89 89 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ESP,ExAC,TOPMed,gnomAD rs370916452 22q11.22 22 22202061C> T null S F 90 90 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs766005737 22q11.22 22 22202063A> G null K E 91 91 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,TOPMed,gnomAD rs753540763 22q11.22 22 22202068G> T null E D 92 92 missense 0.0 benign 1.0 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs760169715 22q11.22 22 22202066G> A null E K 92 92 missense 0.06 benign 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1213223745 22q11.22 22 22202072T> C null S P 94 94 missense 0.019 benign 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61744363 22q11.22 22 22202085C> G null A G 98 98 0.01238 missense 0.991 probably damaging 1.0 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1288872655 22q11.22 22 22202084G> A null A T 98 98 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61744363 22q11.22 22 22202085C> T null A V 98 98 0.01238 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1241512365 22q11.22 22 22202089T> G null F L 99 99 missense 0.037 benign 1.0 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed,gnomAD rs1217226559 22q11.22 22 22202087T> G null F V 99 99 missense 0.037 benign 0.33 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ESP,ExAC,TOPMed,gnomAD rs374890558 22q11.22 22 22202106T> C null L P 105 105 missense 0.041 benign 0.03 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs757608590 22q11.22 22 22202115A> G null E G 108 108 missense 0.048 benign 0.03 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ExAC,TOPMed rs142937886 22q11.22 22 22202119C> G null D E 109 109 3.99E-4 missense 0.826 possibly damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ExAC,TOPMed rs142937886 22q11.22 22 22202119C> A null D E 109 109 3.99E-4 missense 0.826 possibly damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed,gnomAD rs920237518 22q11.22 22 22202117G> A null D N 109 109 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ExAC,TOPMed,gnomAD rs543922293 22q11.22 22 22202120G> A null E K 110 110 2.0E-4 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ExAC,TOPMed,gnomAD rs543922293 22q11.22 22 22202120G> C null E Q 110 110 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151095711 22q11.22 22 22202123G> C null A P 111 111 7.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs773269091 22q11.22 22 22202127A> C null D A 112 112 missense 0.003 benign 0.03 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs773269091 22q11.22 22 22202127A> G null D G 112 112 missense 0.162 benign 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs772200742 22q11.22 22 22202126G> A null D N 112 112 missense 0.003 benign 0.03 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs772200742 22q11.22 22 22202126G> T null D Y 112 112 missense 0.754 possibly damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs760630444 22q11.22 22 22202133A> G null Y C 114 114 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs770761223 22q11.22 22 22202136G> T null C F 115 115 missense 0.792 possibly damaging 0.01 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 ExAC,gnomAD rs776245750 22q11.22 22 22202142T> C null V A 117 117 missense 0.15 benign 0.2 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192915377 22q11.22 22 22202146C> G null Y * 118 118 0.002995 stop gained 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374063016 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22202147G> A null E K 119 119 2.0E-4 missense 0.0 benign 0.14 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed,gnomAD rs1223890766 22q11.22 22 22202154G> C null S T 121 121 missense 0.003 benign 0.03 deleterious 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 TOPMed rs1392257728 22q11.22 22 22202156G> A null A T 122 122 missense 0.01 benign 0.18 tolerated 0 A0A075B6I3 IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 gnomAD rs1283445031 22q11.22 22 22202159A> G null N D 123 123 missense 0.0 benign 0.23 tolerated 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1196593728 22q11.22 22 22214817C> T null A V 4 4 missense 0.123 benign 0.17 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 Ensembl rs971586160 22q11.22 22 22214823T> C null L P 6 6 missense 0.423 benign 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1436124880 22q11.22 22 22214826T> C null L P 7 7 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1224884790 22q11.22 22 22214829T> C null L P 8 8 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs972240575 22q11.22 22 22214832C> T null T I 9 9 missense 0.476 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1269725653 22q11.22 22 22214831A> T null T S 9 9 missense 0.406 benign 0.08 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs941810858 22q11.22 22 22214835T> A null L H 10 10 missense 0.976 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1166926510 22q11.22 22 22214841C> T null T I 12 12 missense 0.013 benign 0.28 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs767890919 22q11.22 22 22214847C> T null S F 14 14 missense 0.007 benign 0.16 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1406758686 22q11.22 22 22214850C> T null A V 15 15 missense 0.212 benign 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ESP,ExAC,TOPMed,gnomAD rs376616709 22q11.22 22 22214965T> C null V A 16 16 missense 0.02 benign 0.35 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,TOPMed,gnomAD rs191472679 22q11.22 22 22214852G> C null V L 16 16 2.0E-4 missense 0.071 benign 0.03 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145011998 22q11.22 22 22214967T> A null S T 17 17 2.0E-4 missense 0.065 benign 0.11 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1221460876 22q11.22 22 22214971T> A null V E 18 18 missense 0.106 benign 0.03 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs113942984 22q11.22 22 22214970G> C null V L 18 18 missense 0.003 benign 0.41 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs113942984 22q11.22 22 22214970G> A null V M 18 18 missense 0.526 possibly damaging 0.17 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1178580974 22q11.22 22 22214974T> C null V A 19 19 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs777855234 22q11.22 22 22214973G> A null V I 19 19 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1418061122 22q11.22 22 22214979G> A null A T 21 21 missense 0.103 benign 0.09 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 Ensembl rs1568996519 22q11.22 22 22214989C> T null T I 24 24 missense 0.727 possibly damaging 0.06 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1431417991 22q11.22 22 22214992A> C null Q P 25 25 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs756010507 22q11.22 22 22214994C> T null P S 26 26 missense 0.615 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs779847046 22q11.22 22 22214998C> T null P L 27 27 missense 0.104 benign 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs749061750 22q11.22 22 22215001C> T null S L 28 28 missense 0.64 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1300173531 22q11.22 22 22215004T> A null V E 29 29 missense 0.446 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs778521934 22q11.22 22 22215007C> A null S Y 30 30 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs747777114 22q11.22 22 22215009A> G null K E 31 31 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs747777114 22q11.22 22 22215009A> C null K Q 31 31 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs771486393 22q11.22 22 22215010A> G null K R 31 31 missense 0.0 benign 0.37 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs771486393 22q11.22 22 22215010A> C null K T 31 31 missense 0.003 benign 0.06 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs112174530 22q11.22 22 22215013G> C null G A 32 32 missense 0.001 benign 0.75 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs112174530 22q11.22 22 22215013G> A null G D 32 32 missense 0.005 benign 0.15 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1206167735 22q11.22 22 22215017G> C null L F 33 33 missense 0.827 possibly damaging 0.17 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed rs965646041 22q11.22 22 22215016T> C null L S 33 33 missense 0.731 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1480013070 22q11.22 22 22215021C> G null Q E 35 35 missense 0.026 benign 0.07 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs761104432 22q11.22 22 22215022A> G null Q R 35 35 missense 0.653 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1270449963 22q11.22 22 22215024A> C null T P 36 36 missense 0.642 possibly damaging 0.14 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs777173159 22q11.22 22 22215027G> A null A T 37 37 missense 0.125 benign 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1428851063 22q11.22 22 22215031C> T null T I 38 38 missense 0.857 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs564307816 22q11.22 22 22215033C> T null L F 39 39 2.0E-4 missense 0.946 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs564307816 22q11.22 22 22215033C> G null L V 39 39 2.0E-4 missense 0.046 benign 0.08 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes rs532458710 22q11.22 22 22215036A> G null T A 40 40 2.0E-4 missense 0.095 benign 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs760961286 22q11.22 22 22215037C> T null T I 40 40 missense 0.752 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs760961286 22q11.22 22 22215037C> A null T N 40 40 missense 0.054 benign 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs760961286 22q11.22 22 22215037C> G null T S 40 40 missense 0.003 benign 1.0 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1306220989 22q11.22 22 22215041C> A null C * 41 41 stop gained 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs752878024 22q11.22 22 22215040G> A null C Y 41 41 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs552682994 22q11.22 22 22215042A> G null T A 42 42 2.0E-4 missense 0.012 benign 0.16 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs764114398 22q11.22 22 22215043C> T null T I 42 42 missense 0.371 benign 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs552682994 22q11.22 22 22215042A> T null T S 42 42 2.0E-4 missense 0.013 benign 0.19 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC rs756094431 22q11.22 22 22215046G> C null G A 43 43 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC rs751609372 22q11.22 22 22215045G> A null G R 43 43 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1365924070 22q11.22 22 22215048A> G null N D 44 44 missense 0.003 benign 0.2 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs778702507 22q11.22 22 22215051A> T null S C 45 45 missense 0.945 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs778702507 22q11.22 22 22215051A> G null S G 45 45 missense 0.047 benign 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs183335857 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22215052G> T null S I 45 45 2.0E-4 missense 0.579 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs183335857 22q11.22 22 22215052G> A null S N 45 45 2.0E-4 missense 0.062 benign 0.09 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs746493813 22q11.22 22 22215053C> A null S R 45 45 missense 0.22 benign 0.04 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs746493813 22q11.22 22 22215053C> G null S R 45 45 missense 0.22 benign 0.04 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs183335857 22q11.22 22 22215052G> C null S T 45 45 2.0E-4 missense 0.069 benign 0.08 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs771630277 22q11.22 22 22215054A> G null N D 46 46 missense 0.005 benign 0.11 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs777261439 22q11.22 22 22215056C> G null N K 46 46 missense 0.371 benign 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs777261439 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22215056C> A null N K 46 46 missense 0.371 benign 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5750741 22q11.22 22 22215058T> A null I N 47 47 0.3466 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5750741 22q11.22 22 22215058T> G null I S 47 47 0.3466 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs760065839 22q11.22 22 22215057A> G null I V 47 47 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76512804 22q11.22 22 22215061T> C null V A 48 48 0.01617 missense 0.565 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs775887305 22q11.22 22 22215060G> T null V F 48 48 missense 0.092 benign 0.06 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs775887305 22q11.22 22 22215060G> A null V I 48 48 missense 0.007 benign 1.0 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs751632428 22q11.22 22 22215064G> C null G A 49 49 missense 0.492 possibly damaging 0.06 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs751632428 22q11.22 22 22215064G> A null G D 49 49 missense 0.536 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs751632428 22q11.22 22 22215064G> T null G V 49 49 missense 0.928 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs534530960 22q11.22 22 22215066A> G null N D 50 50 3.99E-4 missense 0.003 benign 0.68 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 Ensembl rs1568996644 22q11.22 22 22215067A> T null N I 50 50 missense 0.013 benign 0.44 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1387150981 22q11.22 22 22215068C> G null N K 50 50 missense 0.013 benign 0.96 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs534530960 22q11.22 22 22215066A> T null N Y 50 50 3.99E-4 missense 0.013 benign 0.68 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1425454770 22q11.22 22 22215069C> T null Q * 51 51 stop gained 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1425454770 22q11.22 22 22215069C> G null Q E 51 51 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1348598048 22q11.22 22 22215071A> C null Q H 51 51 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs753778195 22q11.22 22 22215070A> T null Q L 51 51 missense 0.003 benign 0.37 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs753778195 22q11.22 22 22215070A> G null Q R 51 51 missense 0.0 benign 0.54 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1289747265 22q11.22 22 22215073G> A null G E 52 52 missense 0.934 probably damaging 0.27 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs985887590 22q11.22 22 22215072G> A null G R 52 52 missense 0.748 possibly damaging 0.26 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1361711164 22q11.22 22 22215075G> C null A P 53 53 missense 0.503 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143187632 22q11.22 22 22215078G> C null A P 54 54 0.001198 missense 0.493 possibly damaging 0.3 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143187632 22q11.22 22 22215078G> A null A T 54 54 0.001198 missense 0.025 benign 0.64 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201216738 22q11.22 22 22215079C> T null A V 54 54 0.008786 missense 0.125 benign 0.38 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1318615617 22q11.22 22 22215083G> A null W * 55 55 stop gained 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1318615617 22q11.22 22 22215083G> C null W C 55 55 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs758022672 22q11.22 22 22215088A> T null Q L 57 57 missense 0.896 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1186907442 22q11.22 22 22215092G> T null Q H 58 58 missense 0.827 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1186907442 22q11.22 22 22215092G> C null Q H 58 58 missense 0.827 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs759557745 22q11.22 22 22215093C> A null H N 59 59 missense 0.414 benign 0.09 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1402926668 22q11.22 22 22215097A> G null Q R 60 60 missense 0.168 benign 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed rs1170300716 22q11.22 22 22215099G> A null G S 61 61 missense 0.778 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs756843245 22q11.22 22 22215112A> G null K R 65 65 missense 0.019 benign 0.4 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs746411744 22q11.22 22 22215114C> G null L V 66 66 missense 0.144 benign 0.36 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs774621433 22q11.22 22 22215121C> G null S C 68 68 missense 0.961 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs774621433 22q11.22 22 22215121C> T null S F 68 68 missense 0.84 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 Ensembl rs1013163669 22q11.22 22 22215120T> C null S P 68 68 missense 0.411 benign 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC rs773227240 22q11.22 22 22215123T> G null Y D 69 69 missense 0.152 benign 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs759515056 22q11.22 22 22215124A> T null Y F 69 69 missense 0.074 benign 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC rs773227240 22q11.22 22 22215123T> C null Y H 69 69 missense 0.152 benign 0.12 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed rs752499862 22q11.22 22 22215127G> A null R K 70 70 missense 0.009 benign 0.92 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs758197026 22q11.22 22 22215128G> C null R S 70 70 missense 0.017 benign 0.73 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1451507159 22q11.22 22 22215129A> G null N D 71 71 missense 0.013 benign 0.27 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC rs763736942 22q11.22 22 22215130A> T null N I 71 71 missense 0.189 benign 0.07 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1281857273 22q11.22 22 22215131T> G null N K 71 71 missense 0.3 benign 0.13 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC rs763736942 22q11.22 22 22215130A> C null N T 71 71 missense 0.065 benign 0.52 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs751262735 22q11.22 22 22215132A> G null N D 72 72 missense 0.013 benign 0.05 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1224261010 22q11.22 22 22215133A> T null N I 72 72 missense 0.881 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed rs1206339970 22q11.22 22 22215135A> G null N D 73 73 missense 0.02 benign 0.35 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed rs1206339970 22q11.22 22 22215135A> C null N H 73 73 missense 0.116 benign 0.06 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs780871996 22q11.22 22 22215136A> T null N I 73 73 missense 0.08 benign 0.05 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs780871996 22q11.22 22 22215136A> G null N S 73 73 missense 0.037 benign 0.5 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs780871996 22q11.22 22 22215136A> C null N T 73 73 missense 0.061 benign 0.2 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs780609470 22q11.22 22 22215139G> C null R P 74 74 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs780609470 22q11.22 22 22215139G> A null R Q 74 74 missense 0.536 possibly damaging 0.05 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,TOPMed,gnomAD rs368436942 22q11.22 22 22215138C> T null R W 74 74 5.99E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed rs1434365290 22q11.22 22 22215142C> T null P L 75 75 missense 0.381 benign 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1026515422 22q11.22 22 22215145C> T null S L 76 76 missense 0.328 benign 0.04 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs774655632 22q11.22 22 22215144T> C null S P 76 76 missense 0.162 benign 0.06 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370944228 22q11.22 22 22215148G> A null G E 77 77 0.001398 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1471907906 22q11.22 22 22215150A> G null I V 78 78 missense 0.01 benign 1.0 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1178987238 22q11.22 22 22215153T> G null S A 79 79 missense 0.024 benign 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1178987238 22q11.22 22 22215153T> A null S T 79 79 missense 0.16 benign 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs772256381 22q11.22 22 22215158G> C null E D 80 80 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1331861362 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22215160G> A null R K 81 81 missense 0.938 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs773320040 22q11.22 22 22215161A> C null R S 81 81 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1331861362 22q11.22 22 22215160G> C null R T 81 81 missense 0.897 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1442351840 22q11.22 22 22215162T> A null F I 82 82 missense 0.891 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs6001413 22q11.22 22 22215164C> A null F L 82 82 0.4824 missense 0.843 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs6001413 22q11.22 22 22215164C> G null F L 82 82 0.4824 missense 0.843 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368520144 22q11.22 22 22215166C> A null S Y 83 83 2.0E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1225273996 22q11.22 22 22215168G> A null A T 84 84 missense 0.443 benign 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7291275 22q11.22 22 22215169C> T null A V 84 84 0.002796 missense 0.393 benign 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,TOPMed,gnomAD rs186196532 22q11.22 22 22215172C> G null S C 85 85 2.0E-4 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,TOPMed,gnomAD rs186196532 22q11.22 22 22215172C> A null S Y 85 85 2.0E-4 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs564118613 22q11.22 22 22215174A> G null R G 86 86 2.0E-4 missense 0.034 benign 0.06 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs767251791 22q11.22 22 22215176G> T null R S 86 86 missense 0.037 benign 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs564118613 22q11.22 22 22215174A> T null R W 86 86 2.0E-4 missense 0.948 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs577816487 22q11.22 22 22215177T> C null S P 87 87 2.0E-4 missense 0.548 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1471860413 22q11.22 22 22215183A> G null N D 89 89 missense 0.06 benign 0.09 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs755640598 22q11.22 22 22215185C> G null N K 89 89 missense 0.754 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1202248612 22q11.22 22 22215184A> G null N S 89 89 missense 0.01 benign 0.53 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs111298900 22q11.22 22 22215186A> G null T A 90 90 missense 0.007 benign 0.06 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs754397163 22q11.22 22 22215190C> A null A D 91 91 missense 0.942 probably damaging 0.03 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs754397163 22q11.22 22 22215190C> T null A V 91 91 missense 0.796 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1421271372 22q11.22 22 22215193C> G null S C 92 92 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed rs1278490722 22q11.22 22 22215198A> T null T S 94 94 missense 0.024 benign 0.05 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed rs1331253408 22q11.22 22 22215202T> C null I T 95 95 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs772346553 22q11.22 22 22215201A> G null I V 95 95 missense 0.87 possibly damaging 0.05 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,NCI-TCGA,gnomAD rs546300761 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22215204A> G null T A 96 96 2.0E-4 missense 0.012 benign 0.09 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed rs771045442 22q11.22 22 22215205C> T null T I 96 96 missense 0.259 benign 0.04 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed rs771045442 22q11.22 22 22215205C> A null T N 96 96 missense 0.074 benign 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs546300761 22q11.22 22 22215204A> C null T P 96 96 2.0E-4 missense 0.78 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs546300761 22q11.22 22 22215204A> T null T S 96 96 2.0E-4 missense 0.003 benign 0.74 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed rs771045442 22q11.22 22 22215205C> G null T S 96 96 missense 0.003 benign 0.74 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs964316941 22q11.22 22 22215210C> T null L F 98 98 missense 0.888 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1230852785 22q11.22 22 22215213C> T null Q * 99 99 stop gained 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1341683523 22q11.22 22 22215215G> C null Q H 99 99 missense 0.474 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs776534733 22q11.22 22 22215214A> G null Q R 99 99 missense 0.477 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs762971983 22q11.22 22 22215216C> G null P A 100 100 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs768692892 22q11.22 22 22215217C> T null P L 100 100 missense 0.012 benign 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140258196 22q11.22 22 22215219G> A null E K 101 101 0.003794 missense 0.975 probably damaging 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs761699896 22q11.22 22 22215224C> A null D E 102 102 missense 0.926 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ESP,ExAC,TOPMed,gnomAD rs367678352 22q11.22 22 22215225G> A null E K 103 103 missense 0.799 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191049703 22q11.22 22 22215228G> C null A P 104 104 0.00639 missense 0.953 probably damaging 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191049703 22q11.22 22 22215228G> T null A S 104 104 0.00639 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191049703 22q11.22 22 22215228G> A null A T 104 104 0.00639 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs548574830 22q11.22 22 22215232A> C null D A 105 105 2.0E-4 missense 0.597 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs753262000 22q11.22 22 22215233C> G null D E 105 105 missense 0.214 benign 0.08 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs548574830 22q11.22 22 22215232A> G null D G 105 105 2.0E-4 missense 0.612 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1475503877 22q11.22 22 22215234T> C null Y H 106 106 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC rs754236348 22q11.22 22 22215238du p null Y * 107 107 stop gained 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs111629190 22q11.22 22 22215239C> G null Y * 107 107 2.0E-4 stop gained 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1387778613 22q11.22 22 22215238A> T null Y F 107 107 missense 0.755 possibly damaging 0.1 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,TOPMed,gnomAD rs779388754 22q11.22 22 22215237T> C null Y H 107 107 missense 0.873 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs751960547 22q11.22 22 22215241G> A null C Y 108 108 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1385035999 22q11.22 22 22215244C> T null S L 109 109 missense 0.166 benign 0.11 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs778043473 22q11.22 22 22215246G> C null A P 110 110 missense 0.117 benign 0.02 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 ExAC,gnomAD rs778043473 22q11.22 22 22215246G> T null A S 110 110 missense 0.044 benign 1.0 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1326820929 22q11.22 22 22215247C> T null A V 110 110 missense 0.086 benign 0.06 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs6001415 22q11.22 22 22215250T> C null L S 111 111 0.2905 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs6001415 22q11.22 22 22215250T> G null L W 111 111 0.2905 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116733113 22q11.22 22 22215259G> A null S N 114 114 0.004193 missense 0.11 benign 0.06 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1248324778 22q11.22 22 22215260C> A null S R 114 114 missense 0.479 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1292621775 22q11.22 22 22215261C> T null L F 115 115 missense 0.089 benign 0.01 deleterious - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 gnomAD rs1292621775 22q11.22 22 22215261C> G null L V 115 115 missense 0.039 benign 0.08 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 TOPMed,gnomAD rs1356216172 22q11.22 22 22215264A> G null S G 116 116 missense 0.013 benign 0.13 tolerated - low confidence 0 A0A075B6I4 IGLV10-54 Immunoglobulin lambda variable 10-54 1000Genomes,ExAC,gnomAD rs540058202 22q11.22 22 22215267G> T null A S 117 117 2.0E-4 missense 0.808 possibly damaging 0.07 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs746802238 22q11.22 22 22327355C> A null A D 2 2 missense 0.404 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs746802238 22q11.22 22 22327355C> G null A G 2 2 missense 0.923 probably damaging 0.09 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed rs772032512 22q11.22 22 22327354G> T null A S 2 2 missense 0.894 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed rs772032512 22q11.22 22 22327354G> A null A T 2 2 missense 0.214 benign 0.08 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs746802238 22q11.22 22 22327355C> T null A V 2 2 missense 0.308 benign 0.05 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1190407287 22q11.22 22 22327358G> A null W * 3 3 stop gained 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs759197100 22q11.22 22 22327359G> A null W * 3 3 stop gained 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1476963971 22q11.22 22 22327357T> C null W R 3 3 missense 0.157 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs769237767 22q11.22 22 22327361C> T null S F 4 4 missense 0.019 benign 0.13 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 1000Genomes,TOPMed rs12484322 22q11.22 22 22327363T> C null S P 5 5 0.1943 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed rs985268273 22q11.22 22 22327367T> G null L R 6 6 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed rs1473838695 22q11.22 22 22327366C> G null L V 6 6 missense 0.533 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs535622771 22q11.22 22 22327375A> T null T S 9 9 missense 0.035 benign 0.02 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs759700968 22q11.22 22 22327378C> T null L F 10 10 missense 0.154 benign 0.01 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 Ensembl rs1569073893 22q11.22 22 22327379T> G null L R 10 10 missense 0.957 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs759700968 22q11.22 22 22327378C> G null L V 10 10 missense 0.109 benign 0.05 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1280836078 22q11.22 22 22327381C> T null L F 11 11 missense 0.331 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs752981120 22q11.22 22 22327384G> C null A P 12 12 missense 0.061 benign 0.01 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs752981120 22q11.22 22 22327384G> A null A T 12 12 missense 0.015 benign 0.13 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 1000Genomes,ExAC,TOPMed,gnomAD rs560979167 22q11.22 22 22327385C> T null A V 12 12 2.0E-4 missense 0.038 benign 0.03 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed,gnomAD rs1486497491 22q11.22 22 22327387C> G null H D 13 13 missense 0.743 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs746904391 22q11.22 22 22327391G> T null C F 14 14 missense 0.02 benign 0.06 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs777878263 22q11.22 22 22327390T> C null C R 14 14 missense 0.033 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs746904391 22q11.22 22 22327391G> C null C S 14 14 missense 0.014 benign 0.07 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs746904391 22q11.22 22 22327391G> A null C Y 14 14 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs757159469 22q11.22 22 22327396G> A null G R 16 16 missense 0.632 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed rs1170467168 22q11.22 22 22327510C> T null S F 17 17 missense 0.427 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1300326991 22q11.22 22 22327516C> G null A G 19 19 missense 0.397 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368561682 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22327531C> T null T M 24 24 missense 0.935 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ESP,ExAC,TOPMed,gnomAD rs368561682 22q11.22 22 22327531C> G null T R 24 24 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1198031611 22q11.22 22 22327536_22327537insACAGTCTGAGCTG A null P H 26 26 stop gained 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs773523332 22q11.22 22 22327537C> T null P L 26 26 missense 0.076 benign 0.11 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1211023632 22q11.22 22 22327540C> G null P R 27 27 missense 0.17 benign 0.01 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 Ensembl rs1569074044 22q11.22 22 22327539C> T null P S 27 27 missense 0.054 benign 0.79 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 Ensembl rs1569074044 22q11.22 22 22327539C> A null P T 27 27 missense 0.719 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1361644334 22q11.22 22 22327543C> T null S L 28 28 missense 0.246 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs776953156 22q11.22 22 22327554G> A null A T 32 32 missense 0.007 benign 0.48 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed rs1489664599 22q11.22 22 22327555C> T null A V 32 32 missense 0.141 benign 0.06 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed,gnomAD rs1234820226 22q11.22 22 22327561G> T null G V 34 34 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs765470958 22q11.22 22 22327564A> T null Q L 35 35 missense 0.672 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 NCI-TCGA rs775809903 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.22 22 22327563de l null Q R 35 35 frameshift 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 Ensembl rs1569074090 22q11.22 22 22327567G> T null R M 36 36 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed rs1341994088 22q11.22 22 22327570T> G null V G 37 37 missense 0.404 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1458335208 22q11.22 22 22327579C> T null S F 40 40 missense 0.229 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed rs1221354251 22q11.22 22 22327581T> C null C R 41 41 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ESP,ExAC,gnomAD rs375527409 22q11.22 22 22327583C> G null C W 41 41 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed rs1368746788 22q11.22 22 22327584A> G null T A 42 42 missense 0.031 benign 0.06 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed rs1368746788 22q11.22 22 22327584A> T null T S 42 42 missense 0.031 benign 0.23 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs767578803 22q11.22 22 22327585C> G null T S 42 42 missense 0.031 benign 0.23 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs750281879 22q11.22 22 22327594G> C null S T 45 45 missense 0.125 benign 0.08 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367689441 22q11.22 22 22327601C> A null N K 47 47 2.0E-4 missense 0.69 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ESP,ExAC,TOPMed,gnomAD rs371935159 22q11.22 22 22327603T> C null I T 48 48 missense 0.103 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs753572387 22q11.22 22 22327602A> G null I V 48 48 missense 0.026 benign 0.1 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs140594791 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22327609C> T null A V 50 50 0.001398 missense 0.001 benign 0.25 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed rs1425574839 22q11.22 22 22327612G> C null G A 51 51 missense 0.009 benign 0.02 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed,gnomAD rs1419590025 22q11.22 22 22327618T> C null V A 53 53 missense 0.0 benign 0.5 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed,gnomAD rs1419590025 22q11.22 22 22327618T> A null V D 53 53 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs747445225 22q11.22 22 22327621T> C null V A 54 54 missense 0.037 benign 0.05 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs778365273 22q11.22 22 22327620G> T null V L 54 54 missense 0.089 benign 0.02 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1199687516 22q11.22 22 22327624A> G null H R 55 55 missense 0.063 benign 0.24 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs771376745 22q11.22 22 22327623C> T null H Y 55 55 missense 0.0 benign 0.77 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1359731112 22q11.22 22 22327631C> G null Y * 57 57 stop gained 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1397932477 22q11.22 22 22327634G> C null Q H 58 58 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed,gnomAD rs1379696033 22q11.22 22 22327633A> G null Q R 58 58 missense 0.537 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs770150392 22q11.22 22 22327642C> A null P Q 61 61 missense 0.245 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369475476 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22327650G> A null A T 64 64 2.0E-4 missense 0.109 benign 0.11 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs763150554 22q11.22 22 22327657A> G null K R 66 66 missense 0.026 benign 0.24 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs763150554 22q11.22 22 22327657A> C null K T 66 66 missense 0.102 benign 0.01 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs750412078 22q11.22 22 22327662C> T null L F 68 68 missense 0.312 benign 0.01 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ESP,ExAC,TOPMed,gnomAD rs373045929 22q11.22 22 22327667C> G null I M 69 69 missense 0.488 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1353365112 22q11.22 22 22327666T> C null I T 69 69 missense 0.488 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs766250617 22q11.22 22 22327669A> G null Y C 70 70 missense 0.187 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs766250617 22q11.22 22 22327669A> C null Y S 70 70 missense 0.102 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 Ensembl rs377608118 22q11.22 22 22327675A> T null N I 72 72 missense 0.463 possibly damaging 0.09 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 Ensembl rs377608118 22q11.22 22 22327675A> G null N S 72 72 missense 0.021 benign 0.56 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 Ensembl rs113036480 22q11.22 22 22327678G> A null S N 73 73 missense 0.007 benign 0.9 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 Ensembl rs113036480 22q11.22 22 22327678G> C null S T 73 73 missense 0.013 benign 0.08 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150490781 22q11.22 22 22327681A> G null N S 74 74 0.01578 missense 0.005 benign 0.53 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs752296131 22q11.22 22 22327684G> C null R P 75 75 missense 0.971 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369665149 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22327683C> T null R W 75 75 missense 0.331 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1379624035 22q11.22 22 22327695G> T null V F 79 79 missense 0.348 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs577215712 22q11.22 22 22327699C> G null P R 80 80 missense 0.937 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61746196 22q11.22 22 22327705A> G null Q R 82 82 0.01817 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1449084608 22q11.22 22 22327711C> G null S C 84 84 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ESP,ExAC,TOPMed,gnomAD rs370192051 22q11.22 22 22327713G> A null G S 85 85 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1377141729 22q11.22 22 22327720A> G null K R 87 87 missense 0.042 benign 0.25 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1310549417 22q11.22 22 22327726G> A null G D 89 89 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1376851834 22q11.22 22 22327729C> T null T I 90 90 missense 0.492 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed rs770238270 22q11.22 22 22327728A> C null T P 90 90 missense 0.048 benign 0.02 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1376851834 22q11.22 22 22327729C> G null T S 90 90 missense 0.01 benign 0.46 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1238362993 22q11.22 22 22327734G> A null A T 92 92 missense 0.956 probably damaging 0.06 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,NCI-TCGA,gnomAD rs775889930 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22327735C> T null A V 92 92 missense 0.537 possibly damaging 0.07 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs768826827 22q11.22 22 22327744C> T null A V 95 95 missense 0.009 benign 0.02 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs774277471 22q11.22 22 22327746A> G null I V 96 96 missense 0.942 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs760728807 22q11.22 22 22327753G> A null G E 98 98 missense 0.529 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed,gnomAD rs1006434594 22q11.22 22 22327755C> G null L V 99 99 missense 0.662 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1425693849 22q11.22 22 22327758C> T null Q * 100 100 stop gained 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 1000Genomes,ExAC,gnomAD rs559312559 22q11.22 22 22327759A> G null Q R 100 100 2.0E-4 missense 0.246 benign 0.1 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs759347368 22q11.22 22 22327761T> G null S A 101 101 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs764976017 22q11.22 22 22327762C> T null S F 101 101 missense 0.125 benign 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,gnomAD rs752396620 22q11.22 22 22327767G> C null D H 103 103 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1445266830 22q11.22 22 22327773G> C null A P 105 105 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ESP,ExAC,TOPMed,gnomAD rs376397246 22q11.22 22 22327780A> G null Y C 107 107 missense 0.866 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1243837239 22q11.22 22 22327782T> A null Y N 108 108 missense 0.967 probably damaging 0.01 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1368678834 22q11.22 22 22327787C> A null C * 109 109 stop gained 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1298688696 22q11.22 22 22327795G> A null W * 112 112 stop gained 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs756736614 22q11.22 22 22327798A> G null D G 113 113 missense 0.246 benign 0.06 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 ExAC,TOPMed,gnomAD rs756736614 22q11.22 22 22327798A> T null D V 113 113 missense 0.903 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 gnomAD rs1198706802 22q11.22 22 22327800A> G null N D 114 114 missense 0.0 benign 0.94 tolerated - low confidence 0 A0A075B6I6 IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 TOPMed rs1335990340 22q11.22 22 22327811T> G null N K 117 117 missense 0.001 benign 0.44 tolerated - low confidence 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs768371034 22q11.22 22 22352944C> A null A D 2 2 missense 0.246 benign 0.04 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs762591753 22q11.22 22 22352943G> T null A S 2 2 missense 0.361 benign 0.17 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs762591753 22q11.22 22 22352943G> A null A T 2 2 missense 0.361 benign 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs761444619 22q11.22 22 22352948G> A null W * 3 3 stop gained 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs774102465 22q11.22 22 22352947G> A null W * 3 3 stop gained 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs34503659 22q11.22 22 22352950C> A null T N 4 4 0.2027 missense 0.111 benign 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC rs767100548 22q11.22 22 22352949A> C null T P 4 4 missense 0.148 benign 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs200716375 22q11.22 22 22352967T> C null F L 10 10 missense 0.0 benign 1.0 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 TOPMed rs1405219141 22q11.22 22 22352978C> A null H Q 13 13 missense 0.065 benign 0.09 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs752885103 22q11.22 22 22352981C> A null C * 14 14 stop gained 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 TOPMed,gnomAD rs1434143658 22q11.22 22 22352983C> T null T I 15 15 missense 0.3 benign 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC rs746611451 22q11.22 22 22353113T> G null S A 17 17 missense 0.633 possibly damaging 0.05 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs770532329 22q11.22 22 22353117T> G null L R 18 18 missense 0.691 possibly damaging 0.06 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs540939365 22q11.22 22 22353120C> T null S L 19 19 2.0E-4 missense 0.725 possibly damaging 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs540939365 22q11.22 22 22353120C> G null S W 19 19 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74549497 22q11.22 22 22353125G> C null A P 21 21 0.1959 missense 0.0 benign 1.0 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74549497 22q11.22 22 22353125G> A null A T 21 21 0.1959 missense 0.006 benign 0.05 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1198857269 22q11.22 22 22353126C> T null A V 21 21 missense 0.003 benign 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1427781296 22q11.22 22 22353128G> A null V M 22 22 missense 0.728 possibly damaging 0.07 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs763336329 22q11.22 22 22353132T> C null L P 23 23 missense 0.375 benign 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 Ensembl rs1569088449 22q11.22 22 22353131C> G null L V 23 23 missense 0.139 benign 0.2 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs768973508 22q11.22 22 22353135C> T null T I 24 24 missense 0.47 possibly damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs768973508 22q11.22 22 22353135C> G null T S 24 24 missense 0.606 possibly damaging 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs761932095 22q11.22 22 22353137C> G null Q E 25 25 missense 0.691 possibly damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1304540250 22q11.22 22 22353141C> T null P L 26 26 missense 0.393 benign 0.08 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1403765839 22q11.22 22 22353143A> G null T A 27 27 missense 0.001 benign 0.08 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 Ensembl rs995806993 22q11.22 22 22353144C> T null T I 27 27 missense 0.046 benign 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 Ensembl rs995806993 22q11.22 22 22353144C> G null T S 27 27 missense 0.001 benign 0.09 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1403765839 22q11.22 22 22353143A> T null T S 27 27 missense 0.001 benign 0.09 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1363970498 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22353147C> T null S F 28 28 missense 0.47 possibly damaging 0.04 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1305507289 22q11.22 22 22353155G> A null A T 31 31 missense 0.286 benign 0.04 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs552400717 22q11.22 22 22353158T> G null S A 32 32 3.99E-4 missense 0.196 benign 0.06 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1476441184 22q11.22 22 22353165G> C null G A 34 34 missense 0.698 possibly damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1419465016 22q11.22 22 22353167G> C null A P 35 35 missense 0.9 possibly damaging 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1419465016 22q11.22 22 22353167G> A null A T 35 35 missense 0.038 benign 0.66 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs569100126 22q11.22 22 22353174C> G null A G 37 37 3.99E-4 missense 0.375 benign 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ESP rs370115507 22q11.22 22 22353173G> T null A S 37 37 missense 0.406 benign 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs569100126 22q11.22 22 22353174C> T null A V 37 37 3.99E-4 missense 0.139 benign 0.47 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 TOPMed,gnomAD rs1423668867 22q11.22 22 22353178A> T null R S 38 38 missense 0.282 benign 0.04 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ESP,ExAC,TOPMed,gnomAD rs61739192 22q11.22 22 22353179C> T null L F 39 39 missense 0.48 possibly damaging 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs769251194 22q11.22 22 22353180T> C null L P 39 39 missense 0.764 possibly damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ESP,ExAC,TOPMed,gnomAD rs61739192 22q11.22 22 22353179C> G null L V 39 39 missense 0.48 possibly damaging 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 TOPMed,gnomAD rs1269469786 22q11.22 22 22353183C> T null T I 40 40 missense 0.456 possibly damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs780575141 22q11.22 22 22353185T> C null C R 41 41 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs531332219 22q11.22 22 22353189C> G null T S 42 42 2.0E-4 missense 0.606 possibly damaging 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 TOPMed rs1303110606 22q11.22 22 22353192T> C null L S 43 43 missense 0.902 possibly damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,NCI-TCGA,TOPMed,gnomAD rs774578844 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22353194C> T null R C 44 44 missense 0.015 benign 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,NCI-TCGA,TOPMed,gnomAD rs748482515 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22353195G> A null R H 44 44 missense 0.015 benign 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs748482515 22q11.22 22 22353195G> T null R L 44 44 missense 0.075 benign 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs773520789 22q11.22 22 22353197A> G null S G 45 45 missense 0.197 benign 0.07 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1216618509 22q11.22 22 22353199T> G null S R 45 45 missense 0.197 benign 0.15 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC rs760871152 22q11.22 22 22353200G> T null G C 46 46 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ESP,ExAC,gnomAD rs367910446 22q11.22 22 22353201G> A null G D 46 46 missense 0.087 benign 0.57 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ESP,ExAC,gnomAD rs367910446 22q11.22 22 22353201G> T null G V 46 46 missense 0.375 benign 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs568063589 22q11.22 22 22353203A> T null I F 47 47 7.99E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs568063589 22q11.22 22 22353203A> G null I V 47 47 7.99E-4 missense 0.01 benign 0.31 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs533511264 22q11.22 22 22353206A> G null S G 48 48 2.0E-4 missense 0.033 benign 0.11 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs79612806 22q11.22 22 22353207G> T null S I 48 48 0.1955 missense 0.053 benign 0.05 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs79612806 22q11.22 22 22353207G> A null S N 48 48 0.1955 missense 0.013 benign 0.33 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs533511264 22q11.22 22 22353206A> C null S R 48 48 2.0E-4 missense 0.053 benign 0.06 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs750044577 22q11.22 22 22353210T> C null V A 49 49 missense 0.243 benign 0.05 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs201334749 22q11.22 22 22353209G> A null V I 49 49 0.1957 missense 0.243 benign 0.25 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs201334749 22q11.22 22 22353209G> C null V L 49 49 0.1957 missense 0.243 benign 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs779521540 22q11.22 22 22353213G> C null G A 50 50 missense 0.286 benign 0.06 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs779521540 22q11.22 22 22353213G> A null G D 50 50 missense 0.286 benign 0.06 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs755666817 22q11.22 22 22353212G> A null G S 50 50 missense 0.299 benign 0.19 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1343364556 22q11.22 22 22353215A> T null S C 51 51 missense 0.125 benign 0.04 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs539733792 22q11.22 22 22353216G> A null S N 51 51 2.0E-4 missense 0.015 benign 0.44 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs556434410 22q11.22 22 22353217C> G null S R 51 51 2.0E-4 missense 0.039 benign 0.36 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs539733792 22q11.22 22 22353216G> C null S T 51 51 2.0E-4 missense 0.039 benign 0.38 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs773610459 22q11.22 22 22353220C> A null Y * 52 52 stop gained 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs576284547 22q11.22 22 22353219A> G null Y C 52 52 2.0E-4 missense 0.092 benign 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs576284547 22q11.22 22 22353219A> T null Y F 52 52 2.0E-4 missense 0.058 benign 0.15 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs771193215 22q11.22 22 22353221A> G null R G 53 53 missense 0.001 benign 0.42 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1353171323 22q11.22 22 22353222G> A null R K 53 53 missense 0.003 benign 0.44 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs763958375 22q11.22 22 22353226A> G null I M 54 54 missense 0.557 possibly damaging 0.12 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs759602159 22q11.22 22 22353225T> G null I R 54 54 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs759602159 22q11.22 22 22353225T> C null I T 54 54 missense 0.282 benign 0.05 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs776854629 22q11.22 22 22353224A> G null I V 54 54 missense 0.194 benign 0.2 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs767273891 22q11.22 22 22353229C> G null Y * 55 55 stop gained 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs117042445 22q11.22 22 22353228A> T null Y F 55 55 0.1955 missense 0.003 benign 0.41 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs61731669 22q11.22 22 22353227T> C null Y H 55 55 2.0E-4 missense 0.006 benign 0.22 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC rs755762995 22q11.22 22 22353230T> A null W R 56 56 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 TOPMed,gnomAD rs1185926892 22q11.22 22 22353234A> G null Y C 57 57 missense 0.313 benign 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 TOPMed,gnomAD rs1185926892 22q11.22 22 22353234A> T null Y F 57 57 missense 0.05 benign 0.19 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 Ensembl rs61731668 22q11.22 22 22353233T> C null Y H 57 57 missense 0.176 benign 0.07 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 TOPMed,gnomAD rs1185926892 22q11.22 22 22353234A> C null Y S 57 57 missense 0.362 benign 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs574786190 22q11.22 22 22353238G> C null Q H 58 58 3.99E-4 missense 0.842 possibly damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs753361974 22q11.22 22 22353237A> G null Q R 58 58 missense 0.763 possibly damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,NCI-TCGA,gnomAD rs779321892 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.22 22 22353239C> T null Q * 59 59 stop gained 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs748658649 22q11.22 22 22353243A> G null K R 60 60 missense 0.176 benign 0.16 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs772029384 22q11.22 22 22353246C> T null P L 61 61 missense 0.286 benign 0.04 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1177023817 22q11.22 22 22353245C> T null P S 61 61 missense 0.299 benign 0.07 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs748013325 22q11.22 22 22353249G> C null G A 62 62 missense 0.584 possibly damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs748013325 22q11.22 22 22353249G> A null G E 62 62 missense 0.48 possibly damaging 0.08 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs748013325 22q11.22 22 22353249G> T null G V 62 62 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1330691013 22q11.22 22 22353252G> A null S N 63 63 missense 0.13 benign 0.24 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs771291132 22q11.22 22 22353255C> A null P H 64 64 missense 0.196 benign 0.06 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs771291132 22q11.22 22 22353255C> T null P L 64 64 missense 0.196 benign 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC rs781513893 22q11.22 22 22353257C> A null P T 65 65 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs761792889 22q11.22 22 22353261G> A null R K 66 66 missense 0.115 benign 0.04 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1225450807 22q11.22 22 22353262G> T null R S 66 66 missense 0.184 benign 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs761792889 22q11.22 22 22353261G> C null R T 66 66 missense 0.788 possibly damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs768491575 22q11.22 22 22353260A> T null R W 66 66 missense 0.074 benign 0.1 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs771917171 22q11.22 22 22353264A> G null Y C 67 67 missense 0.694 possibly damaging 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1264272942 22q11.22 22 22353263T> G null Y D 67 67 missense 0.393 benign 0.09 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs771917171 22q11.22 22 22353264A> C null Y S 67 67 missense 0.815 possibly damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC rs760408382 22q11.22 22 22353267T> C null L P 68 68 missense 0.842 possibly damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs764783252 22q11.22 22 22353274C> G null N K 70 70 missense 0.003 benign 0.25 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs764783252 22q11.22 22 22353274C> A null N K 70 70 missense 0.003 benign 0.25 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs118041409 22q11.22 22 22353273A> G null N S 70 70 missense 0.001 benign 0.41 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs118041409 22q11.22 22 22353273A> C null N T 70 70 missense 0.003 benign 0.33 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs778365959 22q11.22 22 22353277C> A null Y * 71 71 stop gained 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs746078454 22q11.22 22 22353280C> G null Y * 72 72 stop gained 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs746078454 22q11.22 22 22353280C> A null Y * 72 72 stop gained 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs61731675 22q11.22 22 22353279A> G null Y C 72 72 missense 0.114 benign 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs751994279 22q11.22 22 22353278T> G null Y D 72 72 missense 0.411 benign 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs61731675 22q11.22 22 22353279A> T null Y F 72 72 missense 0.053 benign 0.32 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs751994279 22q11.22 22 22353278T> A null Y N 72 72 missense 0.022 benign 0.14 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs61731675 22q11.22 22 22353279A> C null Y S 72 72 missense 0.025 benign 0.17 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 TOPMed,gnomAD rs1038197762 22q11.22 22 22353286C> A null D E 74 74 missense 0.284 benign 0.1 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 TOPMed,gnomAD rs1038197762 22q11.22 22 22353286C> G null D E 74 74 missense 0.284 benign 0.1 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1169591545 22q11.22 22 22353287T> C null S P 75 75 missense 0.574 possibly damaging 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs532708314 22q11.22 22 22353291A> C null D A 76 76 0.1765 missense 0.231 benign 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ESP,ExAC,TOPMed,gnomAD rs371991799 22q11.22 22 22353292T> A null D E 76 76 missense 0.025 benign 0.06 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs532708314 22q11.22 22 22353291A> G null D G 76 76 0.1765 missense 0.415 benign 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs560536279 22q11.22 22 22353290G> A null D N 76 76 0.1765 missense 0.015 benign 0.32 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 Ensembl rs1555908574 22q11.22 22 22353290_22353291delinsA G null D S 76 76 missense 0.025 benign 0.24 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ESP,ExAC,gnomAD rs61731671 22q11.22 22 22353295G> C null K N 77 77 missense 0.379 benign 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ESP,ExAC,gnomAD rs61731671 22q11.22 22 22353295G> T null K N 77 77 missense 0.379 benign 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs770682777 22q11.22 22 22353293A> C null K Q 77 77 missense 0.411 benign 0.05 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs546065847 22q11.22 22 22353294A> C null K T 77 77 2.0E-4 missense 0.411 benign 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs752264948 22q11.22 22 22353297A> T null H L 78 78 missense 0.035 benign 0.07 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs752264948 22q11.22 22 22353297A> C null H P 78 78 missense 0.035 benign 0.08 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs117610294 22q11.22 22 22353298C> A null H Q 78 78 0.1941 missense 0.022 benign 0.28 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs117610294 22q11.22 22 22353298C> G null H Q 78 78 0.1941 missense 0.022 benign 0.28 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC rs752080211 22q11.22 22 22353299C> T null Q * 79 79 stop gained 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 TOPMed rs1485260956 22q11.22 22 22353305T> C null S P 81 81 missense 0.197 benign 0.32 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC rs750673084 22q11.22 22 22353312T> G null V G 83 83 missense 0.653 possibly damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs781604342 22q11.22 22 22353311G> A null V I 83 83 missense 0.47 possibly damaging 0.21 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs756359395 22q11.22 22 22353317A> G null S G 85 85 missense 0.197 benign 0.07 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs531754819 22q11.22 22 22353320C> T null R C 86 86 2.0E-4 missense 0.176 benign 0.09 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs376614795 22q11.22 22 22353321G> A null R H 86 86 missense 0.081 benign 0.13 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs376614795 22q11.22 22 22353321G> C null R P 86 86 missense 0.246 benign 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs548275034 22q11.22 22 22353324T> G null F C 87 87 2.0E-4 missense 0.824 possibly damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs755013194 22q11.22 22 22353323T> C null F L 87 87 missense 0.47 possibly damaging 0.04 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs568014884 22q11.22 22 22353325C> A null F L 87 87 2.0E-4 missense 0.47 possibly damaging 0.04 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs776481407 22q11.22 22 22353329G> A null G R 89 89 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs745583777 22q11.22 22 22353330G> T null G V 89 89 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1166521663 22q11.22 22 22353333C> G null S C 90 90 missense 0.579 possibly damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,gnomAD rs527375179 22q11.22 22 22353336A> T null K I 91 91 2.0E-4 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes rs547114998 22q11.22 22 22353339A> C null D A 92 92 2.0E-4 missense 0.574 possibly damaging 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs570444543 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22353345C> T null S L 94 94 3.99E-4 missense 0.603 possibly damaging 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs763673347 22q11.22 22 22353344T> C null S P 94 94 missense 0.842 possibly damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs570444543 22q11.22 22 22353345C> G null S W 94 94 3.99E-4 missense 0.889 possibly damaging 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs539774487 22q11.22 22 22353347A> G null T A 95 95 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs73880635 22q11.22 22 22353348C> A null T N 95 95 0.1949 missense 0.148 benign 0.06 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs539774487 22q11.22 22 22353347A> T null T S 95 95 2.0E-4 missense 0.006 benign 0.22 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs73880635 22q11.22 22 22353348C> G null T S 95 95 0.1949 missense 0.006 benign 0.22 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs191708293 22q11.22 22 22353350A> G null N D 96 96 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs778953075 22q11.22 22 22353352T> G null N K 96 96 missense 0.567 possibly damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs755101141 22q11.22 22 22353351A> G null N S 96 96 missense 0.694 possibly damaging 0.02 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs755101141 22q11.22 22 22353351A> C null N T 96 96 missense 0.829 possibly damaging 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs191708293 22q11.22 22 22353350A> T null N Y 96 96 missense 0.821 possibly damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs747015357 22q11.22 22 22353353G> A null A T 97 97 missense 0.194 benign 0.28 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1262302143 22q11.22 22 22353354C> T null A V 97 97 missense 0.282 benign 0.05 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs780941833 22q11.22 22 22353359A> T null I F 99 99 missense 0.024 benign 0.12 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs780941833 22q11.22 22 22353359A> C null I L 99 99 missense 0.003 benign 1.0 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs780941833 22q11.22 22 22353359A> G null I V 99 99 missense 0.006 benign 0.33 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ESP,ExAC,gnomAD rs368425130 22q11.22 22 22353363T> A null L * 100 100 2.0E-4 stop gained 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1445027653 22q11.22 22 22353364A> C null L F 100 100 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ESP,ExAC,gnomAD rs368425130 22q11.22 22 22353363T> C null L S 100 100 2.0E-4 missense 0.931 probably damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs73880637 22q11.22 22 22353365T> C null F L 101 101 0.1945 missense 0.0 benign 1.0 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes,ExAC,TOPMed,gnomAD rs73880637 22q11.22 22 22353365T> G null F V 101 101 0.1945 missense 0.0 benign 0.45 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs761346012 22q11.22 22 22353368A> C null I L 102 102 missense 0.603 possibly damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs768095032 22q11.22 22 22353369T> A null I N 102 102 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs768095032 22q11.22 22 22353369T> C null I T 102 102 missense 0.849 possibly damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs761144667 22q11.22 22 22353372C> T null S F 103 103 missense 0.763 possibly damaging 0.03 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 1000Genomes rs574884153 22q11.22 22 22353375G> T null G V 104 104 2.0E-4 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1435085737 22q11.22 22 22353374G> T null G W 104 104 missense 0.824 possibly damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,gnomAD rs754118666 22q11.22 22 22353378T> C null L P 105 105 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 gnomAD rs1319134650 22q11.22 22 22353377C> G null L V 105 105 missense 0.48 possibly damaging 0.1 tolerated 0 A0A075B6I7 IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 ExAC,TOPMed,gnomAD rs148013584 22q11.22 22 22353380T> C null * Q 106 106 stop lost 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 NCI-TCGA rs766445171 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.22 22 22369648A> G null M ? 1 1 - 0.129 benign 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 Ensembl rs1569099334 22q11.22 22 22369660C> G null P A 5 5 missense 0.013 benign 0.13 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1466171352 22q11.22 22 22369663C> T null L F 6 6 missense 0.168 benign 0.05 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed rs1301645687 22q11.22 22 22369668T> G null F L 7 7 missense 0.0 benign 1.0 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed rs1385897269 22q11.22 22 22369669C> A null L M 8 8 missense 0.344 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed rs1388076312 22q11.22 22 22369670T> C null L P 8 8 missense 0.186 benign 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed,gnomAD rs1373044119 22q11.22 22 22369675C> T null L F 10 10 missense 0.324 benign 0.1 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1411177308 22q11.22 22 22369678C> G null L V 11 11 missense 0.338 benign 0.05 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs758282260 22q11.22 22 22369682C> A null T N 12 12 missense 0.391 benign 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1389449184 22q11.22 22 22369686C> G null C W 13 13 missense 0.005 benign 0.06 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC rs751346020 22q11.22 22 22369688G> T null C F 14 14 missense 0.03 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1303064135 22q11.22 22 22369687T> C null C R 14 14 missense 0.051 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC rs751346020 22q11.22 22 22369688G> A null C Y 14 14 missense 0.468 possibly damaging 0.05 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1241211281 22q11.22 22 22369788A> C null N H 18 18 missense 0.013 benign 0.54 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs767509343 22q11.22 22 22369790T> G null N K 18 18 missense 0.027 benign 0.3 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs775362406 22q11.22 22 22369789A> G null N S 18 18 missense 0.003 benign 0.41 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs775362406 22q11.22 22 22369789A> C null N T 18 18 missense 0.009 benign 0.39 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed rs954822656 22q11.22 22 22369792C> T null S F 19 19 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1474799241 22q11.22 22 22369798C> G null A G 21 21 missense 0.263 benign 0.08 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed,gnomAD rs1417963109 22q11.22 22 22369797G> C null A P 21 21 missense 0.03 benign 0.22 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed,gnomAD rs1417963109 22q11.22 22 22369797G> T null A S 21 21 missense 0.039 benign 0.89 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed,gnomAD rs1417963109 22q11.22 22 22369797G> A null A T 21 21 missense 0.007 benign 1.0 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed rs1403501443 22q11.22 22 22369800G> T null V L 22 22 missense 0.324 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1457615826 22q11.22 22 22369807C> T null T I 24 24 missense 0.533 possibly damaging 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs573439236 22q11.22 22 22369813A> C null E A 26 26 2.0E-4 missense 0.696 possibly damaging 0.05 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs573439236 22q11.22 22 22369813A> G null E G 26 26 2.0E-4 missense 0.843 possibly damaging 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs765993885 22q11.22 22 22369812G> A null E K 26 26 missense 0.257 benign 0.07 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1233170017 22q11.22 22 22369816C> T null P L 27 27 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs545234327 22q11.22 22 22369815C> T null P S 27 27 3.99E-4 missense 0.319 benign 0.31 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111551323 22q11.22 22 22369821C> G null L V 29 29 0.002596 missense 0.08 benign 0.77 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs777296041 22q11.22 22 22369828T> C null V A 31 31 missense 0.301 benign 0.07 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1283118777 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22369827G> A null V M 31 31 missense 0.301 benign 0.05 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 Ensembl rs1569099568 22q11.22 22 22369830T> G null S A 32 32 missense 0.176 benign 0.21 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs759935297 22q11.22 22 22369831C> G null S C 32 32 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs759935297 22q11.22 22 22369831C> T null S F 32 32 missense 0.301 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 Ensembl rs1569099581 22q11.22 22 22369834C> T null P L 33 33 missense 0.324 benign 0.29 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes rs546274932 22q11.22 22 22369837G> A null G E 34 34 2.0E-4 missense 0.967 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs529734437 22q11.22 22 22369836G> A null G R 34 34 3.99E-4 missense 0.944 probably damaging 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs775732567 22q11.22 22 22369840G> A null G E 35 35 missense 0.068 benign 0.19 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs374754629 22q11.22 22 22369839G> C null G R 35 35 missense 0.312 benign 0.13 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs374754629 22q11.22 22 22369839G> A null G R 35 35 missense 0.312 benign 0.13 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs763083177 22q11.22 22 22369842A> G null T A 36 36 missense 0.476 possibly damaging 0.07 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs763083177 22q11.22 22 22369842A> C null T P 36 36 missense 0.343 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed rs1285959982 22q11.22 22 22369843C> G null T R 36 36 missense 0.476 possibly damaging 0.2 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs766191413 22q11.22 22 22369846T> A null V D 37 37 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ESP,ExAC,gnomAD rs372643706 22q11.22 22 22369848A> G null T A 38 38 missense 0.662 possibly damaging 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs532288730 22q11.22 22 22369849C> T null T I 38 38 2.0E-4 missense 0.662 possibly damaging 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs532288730 22q11.22 22 22369849C> A null T N 38 38 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ESP,ExAC,gnomAD rs372643706 22q11.22 22 22369848A> T null T S 38 38 missense 0.783 possibly damaging 0.12 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed,gnomAD rs1352940682 22q11.22 22 22369851C> A null L I 39 39 missense 0.721 possibly damaging 0.5 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1443374786 22q11.22 22 22369852T> G null L R 39 39 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed,gnomAD rs1352940682 22q11.22 22 22369851C> G null L V 39 39 missense 0.931 probably damaging 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,gnomAD rs552415569 22q11.22 22 22369854A> G null T A 40 40 2.0E-4 missense 0.594 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed rs975089815 22q11.22 22 22369855C> T null T I 40 40 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,gnomAD rs552415569 22q11.22 22 22369854A> C null T P 40 40 2.0E-4 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs569042996 22q11.22 22 22369858G> C null C S 41 41 2.0E-4 missense 0.806 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,TOPMed,gnomAD rs537543794 22q11.22 22 22369861G> C null G A 42 42 3.99E-4 missense 0.007 benign 0.33 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,TOPMed,gnomAD rs537543794 22q11.22 22 22369861G> A null G D 42 42 3.99E-4 missense 0.03 benign 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1208187157 22q11.22 22 22369864C> G null S C 43 43 missense 0.138 benign 0.19 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs746166214 22q11.22 22 22369866A> T null S C 44 44 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs756387706 22q11.22 22 22369867G> A null S N 44 44 missense 0.213 benign 0.1 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs756387706 22q11.22 22 22369867G> C null S T 44 44 missense 0.213 benign 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1230926316 22q11.22 22 22369870C> T null T I 45 45 missense 0.346 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,TOPMed,gnomAD rs536681146 22q11.22 22 22369873G> C null G A 46 46 2.0E-4 missense 0.787 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,TOPMed,gnomAD rs536681146 22q11.22 22 22369873G> A null G E 46 46 2.0E-4 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs188705617 22q11.22 22 22369876C> A null A D 47 47 3.99E-4 missense 0.37 benign 0.59 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs188705617 22q11.22 22 22369876C> G null A G 47 47 3.99E-4 missense 0.263 benign 0.39 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs553079009 22q11.22 22 22369875G> C null A P 47 47 5.99E-4 missense 0.03 benign 0.14 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs553079009 22q11.22 22 22369875G> T null A S 47 47 5.99E-4 missense 0.024 benign 0.77 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs553079009 22q11.22 22 22369875G> A null A T 47 47 5.99E-4 missense 0.031 benign 0.28 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs188705617 22q11.22 22 22369876C> T null A V 47 47 3.99E-4 missense 0.024 benign 0.08 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 Ensembl rs1232491921 22q11.22 22 22369878G> A null V I 48 48 missense 0.357 benign 0.39 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs763593187 22q11.22 22 22369885G> A null S N 50 50 missense 0.005 benign 0.24 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1334326269 22q11.22 22 22369886T> A null S R 50 50 missense 0.021 benign 0.2 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs370564779 22q11.22 22 22369888G> C null G A 51 51 2.0E-4 missense 0.005 benign 0.25 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs370564779 22q11.22 22 22369888G> A null G D 51 51 2.0E-4 missense 0.007 benign 0.25 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1439097870 22q11.22 22 22369887G> A null G S 51 51 missense 0.0 benign 1.0 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs370564779 22q11.22 22 22369888G> T null G V 51 51 2.0E-4 missense 0.038 benign 0.15 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed rs1186753249 22q11.22 22 22369891A> C null H P 52 52 missense 0.281 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1195108302 22q11.22 22 22369895T> G null Y * 53 53 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs558730090 22q11.22 22 22369894A> G null Y C 53 53 2.0E-4 missense 0.091 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs750836030 22q11.22 22 22369893T> G null Y D 53 53 missense 0.061 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs558730090 22q11.22 22 22369894A> T null Y F 53 53 2.0E-4 missense 0.061 benign 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs750836030 22q11.22 22 22369893T> A null Y N 53 53 missense 0.061 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs558730090 22q11.22 22 22369894A> C null Y S 53 53 2.0E-4 missense 0.147 benign 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs575394576 22q11.22 22 22369896C> G null P A 54 54 2.0E-4 missense 0.007 benign 0.81 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs779148758 22q11.22 22 22369897C> A null P H 54 54 missense 0.825 possibly damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs779148758 22q11.22 22 22369897C> T null P L 54 54 missense 0.013 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs575394576 22q11.22 22 22369896C> T null P S 54 54 2.0E-4 missense 0.09 benign 0.2 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC rs763684721 22q11.22 22 22369901C> G null Y * 55 55 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs368291804 22q11.22 22 22369900A> G null Y C 55 55 2.0E-4 missense 0.005 benign 0.15 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs368291804 22q11.22 22 22369900A> T null Y F 55 55 2.0E-4 missense 0.013 benign 0.4 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs776402416 22q11.22 22 22369899T> C null Y H 55 55 missense 0.003 benign 0.48 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs776402416 22q11.22 22 22369899T> A null Y N 55 55 missense 0.0 benign 0.57 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs368291804 22q11.22 22 22369900A> C null Y S 55 55 2.0E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ESP,ExAC,gnomAD rs370846970 22q11.22 22 22369904G> A null W * 56 56 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs561085086 22q11.22 22 22369903G> A null W * 56 56 3.99E-4 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ESP,ExAC,gnomAD rs370846970 22q11.22 22 22369904G> T null W C 56 56 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ESP,ExAC,gnomAD rs370846970 22q11.22 22 22369904G> C null W C 56 56 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs574427201 22q11.22 22 22369905T> A null F I 57 57 5.99E-4 missense 0.005 benign 0.19 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs574427201 22q11.22 22 22369905T> C null F L 57 57 5.99E-4 missense 0.005 benign 0.07 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs766853316 22q11.22 22 22369907C> G null F L 57 57 missense 0.005 benign 0.07 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1166997125 22q11.22 22 22369906T> A null F Y 57 57 missense 0.001 benign 1.0 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs754197869 22q11.22 22 22369908C> G null Q E 58 58 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs374527877 22q11.22 22 22369910G> C null Q H 58 58 5.99E-4 missense 0.931 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1463330642 22q11.22 22 22369909A> T null Q L 58 58 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs779238894 22q11.22 22 22369911C> T null Q * 59 59 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs758388930 22q11.22 22 22369913G> C null Q H 59 59 missense 0.637 possibly damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs559858674 22q11.22 22 22369912A> T null Q L 59 59 2.0E-4 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1326484801 22q11.22 22 22369914A> T null K * 60 60 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs532469960 22q11.22 22 22369915A> T null K M 60 60 5.99E-4 missense 0.478 possibly damaging 0.08 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs745792445 22q11.22 22 22369916G> C null K N 60 60 missense 0.19 benign 0.09 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs532469960 22q11.22 22 22369915A> G null K R 60 60 5.99E-4 missense 0.19 benign 0.11 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed,gnomAD rs1056926602 22q11.22 22 22369917C> T null P S 61 61 missense 0.338 benign 0.09 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs779842846 22q11.22 22 22369921G> A null G D 62 62 missense 0.397 benign 0.06 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs769656816 22q11.22 22 22369920G> A null G S 62 62 missense 0.762 possibly damaging 0.07 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs749038962 22q11.22 22 22369923C> T null Q * 63 63 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1264169753 22q11.22 22 22369924A> G null Q R 63 63 missense 0.137 benign 0.11 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs552451226 22q11.22 22 22369927C> A null A D 64 64 2.0E-4 missense 0.575 possibly damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs552451226 22q11.22 22 22369927C> T null A V 64 64 2.0E-4 missense 0.011 benign 0.24 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs761443148 22q11.22 22 22369929C> T null P S 65 65 missense 0.648 possibly damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs761443148 22q11.22 22 22369929C> A null P T 65 65 missense 0.5 possibly damaging 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs772712546 22q11.22 22 22369933G> A null R K 66 66 missense 0.007 benign 0.45 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed rs1229605039 22q11.22 22 22369934G> T null R S 66 66 missense 0.09 benign 0.1 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs772712546 22q11.22 22 22369933G> C null R T 66 66 missense 0.031 benign 0.18 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,gnomAD rs141014218 22q11.22 22 22369938C> A null L M 68 68 missense 0.927 probably damaging 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1290238283 22q11.22 22 22369939T> A null L Q 68 68 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,gnomAD rs141014218 22q11.22 22 22369938C> G null L V 68 68 missense 0.662 possibly damaging 0.28 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs193180910 22q11.22 22 22369945A> G null Y C 70 70 missense 0.223 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs193180910 22q11.22 22 22369945A> T null Y F 70 70 missense 0.119 benign 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs548077955 22q11.22 22 22369944T> C null Y H 70 70 3.99E-4 missense 0.17 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs193180910 22q11.22 22 22369945A> C null Y S 70 70 missense 0.301 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs765607127 22q11.22 22 22369948A> C null D A 71 71 missense 0.005 benign 0.35 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs567785093 22q11.22 22 22369949T> A null D E 71 71 3.99E-4 missense 0.001 benign 0.67 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs765607127 22q11.22 22 22369948A> G null D G 71 71 missense 0.0 benign 0.85 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1415265529 22q11.22 22 22369947G> C null D H 71 71 missense 0.005 benign 0.18 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1415265529 22q11.22 22 22369947G> A null D N 71 71 missense 0.0 benign 1.0 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1230071626 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22369950A> G null T A 72 72 missense 0.068 benign 0.1 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs536317077 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22369951C> T null T I 72 72 2.0E-4 missense 0.341 benign 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1230071626 22q11.22 22 22369950A> C null T P 72 72 missense 0.229 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs536317077 22q11.22 22 22369951C> G null T R 72 72 2.0E-4 missense 0.957 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1230071626 22q11.22 22 22369950A> T null T S 72 72 missense 0.488 possibly damaging 0.15 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs756073973 22q11.22 22 22369953A> G null S G 73 73 missense 0.045 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs112201439 22q11.22 22 22369954G> T null S I 73 73 7.99E-4 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs112201439 22q11.22 22 22369954G> A null S N 73 73 7.99E-4 missense 0.011 benign 1.0 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs756073973 22q11.22 22 22369953A> C null S R 73 73 missense 0.067 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs112201439 22q11.22 22 22369954G> C null S T 73 73 7.99E-4 missense 0.085 benign 0.11 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs768423188 22q11.22 22 22369956A> G null N D 74 74 missense 0.37 benign 0.08 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs768423188 22q11.22 22 22369956A> C null N H 74 74 missense 0.045 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs566708234 22q11.22 22 22369957A> T null N I 74 74 2.0E-4 missense 0.051 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs538956459 22q11.22 22 22369958C> G null N K 74 74 2.0E-4 missense 0.007 benign 0.5 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs538956459 22q11.22 22 22369958C> A null N K 74 74 2.0E-4 missense 0.007 benign 0.5 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs566708234 22q11.22 22 22369957A> G null N S 74 74 2.0E-4 missense 0.013 benign 0.55 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs760223538 22q11.22 22 22369960A> G null K R 75 75 missense 0.0 benign 1.0 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs760223538 22q11.22 22 22369960A> C null K T 75 75 missense 0.203 benign 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs777257294 22q11.22 22 22369962C> A null H N 76 76 missense 0.001 benign 0.12 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed,gnomAD rs1364755795 22q11.22 22 22369963A> C null H P 76 76 missense 0.0 benign 1.0 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs185250547 22q11.22 22 22369964C> G null H Q 76 76 5.99E-4 missense 0.006 benign 0.05 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs777257294 22q11.22 22 22369962C> T null H Y 76 76 missense 0.0 benign 0.22 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1156464360 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22369965T> C null S P 77 77 missense 0.109 benign 0.19 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs554849279 22q11.22 22 22369970G> A null W * 78 78 2.0E-4 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs554849279 22q11.22 22 22369970G> T null W C 78 78 2.0E-4 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs538078234 22q11.22 22 22369969G> T null W L 78 78 2.0E-4 missense 0.606 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs751674580 22q11.22 22 22369968T> C null W R 78 78 missense 0.647 possibly damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs538078234 22q11.22 22 22369969G> C null W S 78 78 2.0E-4 missense 0.212 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs774088428 22q11.22 22 22369971A> G null T A 79 79 missense 0.023 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs774088428 22q11.22 22 22369971A> C null T P 79 79 missense 0.632 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs758018436 22q11.22 22 22369978C> A null A D 81 81 missense 0.026 benign 0.79 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed,gnomAD rs1294439216 22q11.22 22 22369977G> T null A S 81 81 missense 0.174 benign 0.85 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs758018436 22q11.22 22 22369978C> T null A V 81 81 missense 0.158 benign 0.3 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs9619971 22q11.22 22 22369980C> G null R G 82 82 missense 0.231 benign 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,TOPMed,gnomAD rs539921549 22q11.22 22 22369981G> A null R Q 82 82 3.99E-4 missense 0.255 benign 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,NCI-TCGA,TOPMed,gnomAD rs9619971 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22369980C> T null R W 82 82 missense 0.511 possibly damaging 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs767264719 22q11.22 22 22369985C> G null F L 83 83 missense 0.774 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1280232382 22q11.22 22 22369983T> G null F V 83 83 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs746385032 22q11.22 22 22369987C> G null S * 84 84 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs775744418 22q11.22 22 22369993C> G null S C 86 86 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs775744418 22q11.22 22 22369993C> T null S F 86 86 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs775744418 22q11.22 22 22369993C> A null S Y 86 86 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs764269297 22q11.22 22 22369995C> T null L F 87 87 missense 0.674 possibly damaging 0.27 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs764269297 22q11.22 22 22369995C> G null L V 87 87 missense 0.02 benign 0.31 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs761945437 22q11.22 22 22369998C> T null L F 88 88 missense 0.012 benign 0.48 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs767586536 22q11.22 22 22369999T> C null L P 88 88 missense 0.532 possibly damaging 0.13 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1463425340 22q11.22 22 22370002G> A null G E 89 89 missense 0.774 possibly damaging 0.05 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs750444003 22q11.22 22 22370005G> C null G A 90 90 missense 0.014 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs750444003 22q11.22 22 22370005G> A null G D 90 90 missense 0.005 benign 0.28 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs752475351 22q11.22 22 22370007A> C null K Q 91 91 missense 0.967 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs758192516 22q11.22 22 22370008A> G null K R 91 91 missense 0.58 possibly damaging 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs758192516 22q11.22 22 22370008A> C null K T 91 91 missense 0.626 possibly damaging 0.52 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed,gnomAD rs1302682317 22q11.22 22 22370011C> G null A G 92 92 missense 0.229 benign 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs527427204 22q11.22 22 22370010G> C null A P 92 92 missense 0.312 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs527427204 22q11.22 22 22370010G> A null A T 92 92 missense 0.341 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed,gnomAD rs1302682317 22q11.22 22 22370011C> T null A V 92 92 missense 0.85 possibly damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs576865028 22q11.22 22 22370013G> C null A P 93 93 2.0E-4 missense 0.157 benign 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1252461838 22q11.22 22 22370014C> T null A V 93 93 missense 0.109 benign 0.1 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1197220499 22q11.22 22 22370022C> T null L F 96 96 missense 0.67 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 TOPMed rs890745587 22q11.22 22 22370023T> C null L P 96 96 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7292000 22q11.22 22 22370026T> C null L S 97 97 0.08626 missense 0.0 benign 0.67 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7292000 22q11.22 22 22370026T> G null L W 97 97 0.08626 missense 0.005 benign 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs562815385 22q11.22 22 22370029G> A null G D 98 98 2.0E-4 missense 0.165 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1392679274 22q11.22 22 22370028G> A null G S 98 98 missense 0.387 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ESP,ExAC,TOPMed,gnomAD rs376941672 22q11.22 22 22370032C> A null A E 99 99 missense 0.778 possibly damaging 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ESP,ExAC,TOPMed,gnomAD rs376941672 22q11.22 22 22370032C> G null A G 99 99 missense 0.157 benign 0.07 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs368681292 22q11.22 22 22370031G> C null A P 99 99 missense 0.927 probably damaging 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs368681292 22q11.22 22 22370031G> A null A T 99 99 missense 0.282 benign 0.06 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376941672 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22370032C> T null A V 99 99 missense 0.029 benign 0.23 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs765138047 22q11.22 22 22370035A> T null Q L 100 100 missense 0.361 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs765138047 22q11.22 22 22370035A> C null Q P 100 100 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs763988450 22q11.22 22 22370037C> G null P A 101 101 missense 0.029 benign 0.94 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs751344487 22q11.22 22 22370038C> T null P L 101 101 missense 0.137 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs751344487 22q11.22 22 22370038C> G null P R 101 101 missense 0.296 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs531624748 22q11.22 22 22370042G> C null E D 102 102 3.99E-4 missense 0.547 possibly damaging 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs531624748 22q11.22 22 22370042G> T null E D 102 102 3.99E-4 missense 0.547 possibly damaging 0.04 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs749946995 22q11.22 22 22370044A> C null D A 103 103 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs749946995 22q11.22 22 22370044A> G null D G 103 103 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs749946995 22q11.22 22 22370044A> T null D V 103 103 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs369569107 22q11.22 22 22370047A> C null E A 104 104 2.0E-4 missense 0.048 benign 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs369569107 22q11.22 22 22370047A> G null E G 104 104 2.0E-4 missense 0.061 benign 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs548383684 22q11.22 22 22370046G> A null E K 104 104 2.0E-4 missense 0.061 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,gnomAD rs369569107 22q11.22 22 22370047A> T null E V 104 104 2.0E-4 missense 0.173 benign 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs748472734 22q11.22 22 22370050C> A null A D 105 105 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs768984621 22q11.22 22 22370049G> C null A P 105 105 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs768984621 22q11.22 22 22370049G> T null A S 105 105 missense 0.783 possibly damaging 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs768984621 22q11.22 22 22370049G> A null A T 105 105 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs748472734 22q11.22 22 22370050C> T null A V 105 105 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs773401632 22q11.22 22 22370053A> C null E A 106 106 missense 0.009 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112695317 22q11.22 22 22370054G> C null E D 106 106 0.001398 missense 0.0 benign 1.0 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs773401632 22q11.22 22 22370053A> G null E G 106 106 missense 0.005 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs530217967 22q11.22 22 22370052G> A null E K 106 106 2.0E-4 missense 0.013 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs530217967 22q11.22 22 22370052G> C null E Q 106 106 2.0E-4 missense 0.039 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs773401632 22q11.22 22 22370053A> T null E V 106 106 missense 0.001 benign 0.07 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs191717127 22q11.22 22 22370056A> G null Y C 107 107 3.99E-4 missense 0.874 possibly damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs191717127 22q11.22 22 22370056A> T null Y F 107 107 3.99E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1167035908 22q11.22 22 22370055T> A null Y N 107 107 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs191717127 22q11.22 22 22370056A> C null Y S 107 107 3.99E-4 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ESP,ExAC,TOPMed,gnomAD rs377179353 22q11.22 22 22370060C> G null Y * 108 108 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs764078251 22q11.22 22 22370059A> G null Y C 108 108 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs764078251 22q11.22 22 22370059A> T null Y F 108 108 missense 0.166 benign 0.09 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes rs538694532 22q11.22 22 22370058T> C null Y H 108 108 2.0E-4 missense 0.246 benign 0.14 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs764078251 22q11.22 22 22370059A> C null Y S 108 108 missense 0.689 possibly damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs567159034 22q11.22 22 22370062G> T null C F 109 109 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1348426786 22q11.22 22 22370061T> C null C R 109 109 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs552131031 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22370063C> G null C W 109 109 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs567159034 22q11.22 22 22370062G> A null C Y 109 109 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs755653420 22q11.22 22 22370066G> C null L F 110 110 missense 0.003 benign 0.76 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1398650836 22q11.22 22 22370065T> C null L S 110 110 missense 0.003 benign 0.53 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs753237399 22q11.22 22 22370067C> T null L F 111 111 missense 0.524 possibly damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs753237399 22q11.22 22 22370067C> A null L I 111 111 missense 0.488 possibly damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs779362185 22q11.22 22 22370068T> G null L R 111 111 missense 0.942 probably damaging 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs777925180 22q11.22 22 22370071C> G null S C 112 112 missense 0.461 possibly damaging 0.12 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,TOPMed,gnomAD rs777925180 22q11.22 22 22370071C> A null S Y 112 112 missense 0.0 benign 1.0 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs538115474 22q11.22 22 22370075T> G null Y * 113 113 2.0E-4 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,gnomAD rs538115474 22q11.22 22 22370075T> A null Y * 113 113 2.0E-4 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs759498327 22q11.22 22 22370074A> G null Y C 113 113 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs759498327 22q11.22 22 22370074A> T null Y F 113 113 missense 0.031 benign 0.24 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs776797349 22q11.22 22 22370073T> C null Y H 113 113 missense 0.045 benign 0.12 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs776797349 22q11.22 22 22370073T> A null Y N 113 113 missense 0.119 benign 0.03 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,TOPMed,gnomAD rs555164835 22q11.22 22 22370076A> G null S G 114 114 3.99E-4 missense 0.003 benign 0.1 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,TOPMed,gnomAD rs568513928 22q11.22 22 22370077G> A null S N 114 114 2.0E-4 missense 0.026 benign 0.13 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC rs772822359 22q11.22 22 22370078T> A null S R 114 114 missense 0.091 benign 0.01 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,TOPMed,gnomAD rs568513928 22q11.22 22 22370077G> C null S T 114 114 2.0E-4 missense 0.173 benign 0.17 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs761079603 22q11.22 22 22370079G> T null G C 115 115 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 Ensembl rs1569100218 22q11.22 22 22370080G> A null G D 115 115 missense 0.246 benign 0.12 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1409909253 22q11.22 22 22370083C> G null A G 116 116 missense 0.009 benign 0.14 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,gnomAD rs533894880 22q11.22 22 22370082G> T null A S 116 116 2.0E-4 missense 0.015 benign 0.73 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,gnomAD rs533894880 22q11.22 22 22370082G> A null A T 116 116 2.0E-4 missense 0.065 benign 0.06 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 gnomAD rs1409909253 22q11.22 22 22370083C> T null A V 116 116 missense 0.014 benign 0.23 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 Ensembl rs1569100254 22q11.22 22 22370085_22370086insTTATGTCTTCGGAACTGGGACCAAGGTCACCGTCCTAGGTAAGTGGCCCTCAACCTTTCCCAACCTGTCTCAGCCTCTGCTGTCCCTGGAAAGTCTATTTTCTCTCTCTG G null R LMSSELGPRSPS* 117 117 stop gained 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs764668748 22q11.22 22 22370086G> C null R P 117 117 missense 0.248 benign 0.02 deleterious 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 ExAC,gnomAD rs764668748 22q11.22 22 22370086G> A null R Q 117 117 missense 0.003 benign 0.25 tolerated 0 A0A075B6I9 IGLV7-46 Immunoglobulin lambda variable 7-46 1000Genomes,ExAC,NCI-TCGA,gnomAD rs553625880 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22370085C> T null R W 117 117 2.0E-4 missense 0.497 possibly damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1281956131 22q11.22 22 22427554A> G null T A 4 4 missense 0.019 benign 0.43 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs761822551 22q11.22 22 22427555C> T null T I 4 4 missense 0.031 benign 0.13 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs761822551 22q11.22 22 22427555C> A null T N 4 4 missense 0.596 possibly damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1279508711 22q11.22 22 22427560C> T null L F 6 6 missense 0.308 benign 0.05 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1485357588 22q11.22 22 22427561T> C null L P 6 6 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs776525681 22q11.22 22 22427572C> T null L F 10 10 missense 0.029 benign 0.17 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs776536853 22q11.22 22 22427575C> T null L F 11 11 missense 0.046 benign 0.08 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1344507049 22q11.22 22 22427583C> A null H Q 13 13 missense 0.24 benign 0.09 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs539915111 22q11.22 22 22427581C> T null H Y 13 13 5.99E-4 missense 0.109 benign 0.27 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1378928012 22q11.22 22 22427586C> A null C * 14 14 stop gained 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1436978871 22q11.22 22 22427588C> T null T I 15 15 missense 0.791 possibly damaging 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs368462808 22q11.22 22 22427713G> A null G D 16 16 missense 0.916 probably damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs368462808 22q11.22 22 22427713G> T null G V 16 16 missense 0.108 benign 0.04 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs764323303 22q11.22 22 22427716C> T null S F 17 17 missense 0.423 benign 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1466792980 22q11.22 22 22427715T> A null S T 17 17 missense 0.455 possibly damaging 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs764323303 22q11.22 22 22427716C> A null S Y 17 17 missense 0.949 probably damaging 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs774659532 22q11.22 22 22427718C> T null L F 18 18 missense 0.097 benign 0.18 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1306562485 22q11.22 22 22427719T> G null L R 18 18 missense 0.813 possibly damaging 0.05 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs762170612 22q11.22 22 22427721T> G null S A 19 19 missense 0.212 benign 0.11 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1298058630 22q11.22 22 22427722C> T null S F 19 19 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs750927800 22q11.22 22 22427727C> T null P S 21 21 missense 0.013 benign 0.17 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1276326781 22q11.22 22 22427731T> C null V A 22 22 missense 0.076 benign 0.05 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ESP,ExAC,TOPMed,gnomAD rs372395638 22q11.22 22 22427733C> G null L V 23 23 missense 0.021 benign 0.19 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1487738712 22q11.22 22 22427737C> T null T I 24 24 missense 0.568 possibly damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1487738712 22q11.22 22 22427737C> A null T N 24 24 missense 0.953 probably damaging 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1262032623 22q11.22 22 22427742C> T null P S 26 26 missense 0.341 benign 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1262032623 22q11.22 22 22427742C> A null P T 26 26 missense 0.834 possibly damaging 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs547150517 22q11.22 22 22427745C> G null P A 27 27 2.0E-4 missense 0.001 benign 0.09 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs547150517 22q11.22 22 22427745C> T null P S 27 27 2.0E-4 missense 0.018 benign 0.11 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs547150517 22q11.22 22 22427745C> A null P T 27 27 2.0E-4 missense 0.015 benign 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1190894495 22q11.22 22 22427751T> G null S A 29 29 missense 0.0 benign 0.12 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs778735792 22q11.22 22 22427754T> A null S T 30 30 missense 0.953 probably damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs758202978 22q11.22 22 22427757G> A null A T 31 31 missense 0.361 benign 0.04 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1193625972 22q11.22 22 22427761C> T null S F 32 32 missense 0.109 benign 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs746937283 22q11.22 22 22427760T> A null S T 32 32 missense 0.07 benign 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1289186409 22q11.22 22 22427764C> T null P L 33 33 missense 0.021 benign 1.0 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1399564925 22q11.22 22 22427771A> T null E D 35 35 missense 0.063 benign 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1330019944 22q11.22 22 22427770A> G null E G 35 35 missense 0.027 benign 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376129334 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22427769G> A null E K 35 35 missense 0.063 benign 0.08 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ESP,ExAC,TOPMed,gnomAD rs376129334 22q11.22 22 22427769G> C null E Q 35 35 missense 0.117 benign 0.06 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1357516868 22q11.22 22 22427775G> A null A T 37 37 missense 0.314 benign 0.05 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs774569595 22q11.22 22 22427776C> T null A V 37 37 missense 0.028 benign 0.5 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs767918867 22q11.22 22 22427781C> T null L F 39 39 missense 0.308 benign 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs767918867 22q11.22 22 22427781C> G null L V 39 39 missense 0.752 possibly damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1231907124 22q11.22 22 22427784A> T null T S 40 40 missense 0.007 benign 0.28 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs976296273 22q11.22 22 22427785C> G null T S 40 40 missense 0.007 benign 0.28 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1352531122 22q11.22 22 22427790A> G null T A 42 42 missense 0.338 benign 0.09 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 Ensembl rs761961220 22q11.22 22 22427791C> T null T I 42 42 missense 0.56 possibly damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1352531122 22q11.22 22 22427790A> C null T P 42 42 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1392069690 22q11.22 22 22427795G> T null L F 43 43 missense 0.246 benign 0.04 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1259159463 22q11.22 22 22427797C> G null P R 44 44 missense 0.0 benign 0.18 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs773486651 22q11.22 22 22427796C> T null P S 44 44 missense 0.0 benign 1.0 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs761220186 22q11.22 22 22427800G> C null S T 45 45 missense 0.177 benign 0.06 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1180737878 22q11.22 22 22427803A> G null D G 46 46 missense 0.0 benign 1.0 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 Ensembl rs1569139535 22q11.22 22 22427805A> C null I L 47 47 missense 0.012 benign 0.44 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs766813538 22q11.22 22 22427809A> G null N S 48 48 missense 0.0 benign 1.0 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs766813538 22q11.22 22 22427809A> C null N T 48 48 missense 0.043 benign 0.07 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs753355024 22q11.22 22 22427812T> G null V G 49 49 missense 0.886 possibly damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs764902204 22q11.22 22 22427815G> C null G A 50 50 missense 0.024 benign 0.06 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs56060925 22q11.22 22 22427814G> T null G C 50 50 0.112 missense 0.152 benign 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs56060925 22q11.22 22 22427814G> A null G S 50 50 0.112 missense 0.056 benign 0.21 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1377473477 22q11.22 22 22427817A> G null S G 51 51 missense 0.0 benign 0.74 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs758030557 22q11.22 22 22427818G> A null S N 51 51 missense 0.0 benign 0.41 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs777604247 22q11.22 22 22427819C> A null S R 51 51 missense 0.007 benign 0.35 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs777604247 22q11.22 22 22427819C> G null S R 51 51 missense 0.007 benign 0.35 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs758030557 22q11.22 22 22427818G> C null S T 51 51 missense 0.0 benign 0.38 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1377638704 22q11.22 22 22427820T> C null Y H 52 52 missense 0.033 benign 0.09 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs768707794 22q11.22 22 22427825C> G null N K 53 53 missense 0.003 benign 0.54 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs749308024 22q11.22 22 22427824A> G null N S 53 53 missense 0.0 benign 0.66 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs779030620 22q11.22 22 22427827T> A null I K 54 54 missense 0.813 possibly damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1208839317 22q11.22 22 22427831C> G null Y * 55 55 stop gained 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs772230223 22q11.22 22 22427830A> G null Y C 55 55 missense 0.679 possibly damaging 0.07 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs748368387 22q11.22 22 22427829T> C null Y H 55 55 missense 0.005 benign 0.2 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs748368387 22q11.22 22 22427829T> A null Y N 55 55 missense 0.005 benign 0.19 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs772230223 22q11.22 22 22427830A> C null Y S 55 55 missense 0.009 benign 0.44 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1253679872 22q11.22 22 22427834G> A null W * 56 56 stop gained 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs552271206 22q11.22 22 22427837C> G null Y * 57 57 stop gained 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs569460590 22q11.22 22 22427836A> G null Y C 57 57 2.0E-4 missense 0.372 benign 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs569460590 22q11.22 22 22427836A> T null Y F 57 57 2.0E-4 missense 0.098 benign 0.19 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs569460590 22q11.22 22 22427836A> C null Y S 57 57 2.0E-4 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 Ensembl rs993452126 22q11.22 22 22427841C> G null Q E 59 59 missense 0.861 possibly damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1382721547 22q11.22 22 22427842A> G null Q R 59 59 missense 0.957 probably damaging 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 Ensembl rs1026196823 22q11.22 22 22427851G> A null G E 62 62 missense 0.311 benign 0.06 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs752306931 22q11.22 22 22427864G> C null R S 66 66 missense 0.554 possibly damaging 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs538103494 22q11.22 22 22427866A> G null Y C 67 67 2.0E-4 missense 0.324 benign 0.04 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1418041239 22q11.22 22 22427865T> A null Y N 67 67 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs763686140 22q11.22 22 22427868C> T null L F 68 68 missense 0.984 probably damaging 0.07 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs763686140 22q11.22 22 22427868C> G null L V 68 68 missense 0.783 possibly damaging 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs566027588 22q11.22 22 22427876C> G null Y * 70 70 stop gained 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs199904014 22q11.22 22 22427874T> C null Y H 70 70 0.08307 missense 0.003 benign 0.42 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs199904014 22q11.22 22 22427874T> A null Y N 70 70 0.08307 missense 0.003 benign 0.26 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1371289341 22q11.22 22 22427879C> G null Y * 71 71 stop gained 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs781022720 22q11.22 22 22427878A> G null Y C 71 71 missense 0.24 benign 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs781022720 22q11.22 22 22427878A> T null Y F 71 71 missense 0.033 benign 0.24 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1445064350 22q11.22 22 22427877T> C null Y H 71 71 missense 0.98 probably damaging 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs778940652 22q11.22 22 22427882C> A null Y * 72 72 stop gained 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375984054 22q11.22 22 22427881A> G null Y C 72 72 2.0E-4 missense 0.136 benign 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375984054 22q11.22 22 22427881A> T null Y F 72 72 2.0E-4 missense 0.549 possibly damaging 0.33 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375984054 22q11.22 22 22427881A> C null Y S 72 72 2.0E-4 missense 0.584 possibly damaging 0.19 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1038653488 22q11.22 22 22427884C> T null S L 73 73 missense 0.7 possibly damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs772294417 22q11.22 22 22427892G> C null D H 76 76 missense 0.017 benign 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,gnomAD rs534113249 22q11.22 22 22427895A> T null K * 77 77 2.0E-4 stop gained 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,gnomAD rs534113249 22q11.22 22 22427895A> G null K E 77 77 2.0E-4 missense 0.24 benign 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1416778583 22q11.22 22 22427897G> C null K N 77 77 missense 0.923 probably damaging 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs202098056 22q11.22 22 22427899G> A null G D 78 78 missense 0.0 benign 0.22 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs201204859 22q11.22 22 22427898G> C null G R 78 78 missense 0.003 benign 0.1 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs201204859 22q11.22 22 22427898G> A null G S 78 78 missense 0.04 benign 0.2 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181085584 22q11.22 22 22427904G> T null G C 80 80 0.001398 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs777179465 22q11.22 22 22427905G> A null G D 80 80 missense 0.97 probably damaging 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs760100952 22q11.22 22 22427907T> C null S P 81 81 missense 0.047 benign 0.33 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1362970315 22q11.22 22 22427913G> A null V I 83 83 missense 0.316 benign 0.22 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs770449116 22q11.22 22 22427917C> T null P L 84 84 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs1361629994 22q11.22 22 22427919A> G null S G 85 85 missense 0.109 benign 0.07 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111480336 22q11.22 22 22427922C> T null R C 86 86 0.01278 missense 0.026 benign 0.07 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs555052536 22q11.22 22 22427923G> A null R H 86 86 missense 0.012 benign 0.13 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs555052536 22q11.22 22 22427923G> T null R L 86 86 missense 0.029 benign 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ESP,ExAC,gnomAD rs376374355 22q11.22 22 22427929C> T null S F 88 88 missense 0.315 benign 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes rs545522742 22q11.22 22 22427935C> T null S F 90 90 2.0E-4 missense 0.172 benign 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1001613251 22q11.22 22 22427937A> T null K * 91 91 stop gained 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1363588683 22q11.22 22 22427938A> T null K I 91 91 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1363588683 22q11.22 22 22427938A> G null K R 91 91 missense 0.529 possibly damaging 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ESP,ExAC,TOPMed,gnomAD rs370958268 22q11.22 22 22427940G> C null D H 92 92 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1235131770 22q11.22 22 22427944C> G null A G 93 93 missense 0.066 benign 0.05 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1342418548 22q11.22 22 22427943G> A null A T 93 93 missense 0.046 benign 0.74 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ESP,ExAC,TOPMed,gnomAD rs367681582 22q11.22 22 22427950C> G null A G 95 95 missense 0.031 benign 0.07 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,NCI-TCGA,TOPMed,gnomAD rs766331139 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22427949G> A null A T 95 95 missense 0.031 benign 0.14 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ESP,ExAC,TOPMed,gnomAD rs367681582 22q11.22 22 22427950C> T null A V 95 95 missense 0.048 benign 0.04 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1486941582 22q11.22 22 22427952A> G null N D 96 96 missense 0.633 possibly damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC rs777979333 22q11.22 22 22427953A> T null N I 96 96 missense 0.44 benign 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ESP,ExAC,TOPMed,gnomAD rs371930869 22q11.22 22 22427954T> A null N K 96 96 missense 0.146 benign 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,NCI-TCGA rs777979333 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22427953A> C null N T 96 96 missense 0.549 possibly damaging 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1486941582 22q11.22 22 22427952A> T null N Y 96 96 missense 0.197 benign 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs576277385 22q11.22 22 22427955A> G null T A 97 97 0.001597 missense 0.0 benign 1.0 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed rs746268408 22q11.22 22 22427956C> T null T I 97 97 missense 0.025 benign 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed rs746268408 22q11.22 22 22427956C> A null T K 97 97 missense 0.0 benign 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1476877402 22q11.22 22 22427959G> C null G A 98 98 missense 0.529 possibly damaging 0.1 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1415123430 22q11.22 22 22427961A> G null I V 99 99 missense 0.007 benign 0.32 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1275917839 22q11.22 22 22427966A> T null L F 100 100 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs749864514 22q11.22 22 22427967C> T null L F 101 101 missense 0.045 benign 0.58 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs749864514 22q11.22 22 22427967C> G null L V 101 101 missense 0.028 benign 0.43 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,TOPMed,gnomAD rs768046432 22q11.22 22 22427971T> A null I N 102 102 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1346614211 22q11.22 22 22427974C> T null S F 103 103 missense 0.753 possibly damaging 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1480692634 22q11.22 22 22427973T> A null S T 103 103 missense 0.932 probably damaging 0.06 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs561944222 22q11.22 22 22427976G> C null G R 104 104 2.0E-4 missense 0.433 benign 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs561944222 22q11.22 22 22427976G> A null G R 104 104 2.0E-4 missense 0.433 benign 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs772949132 22q11.22 22 22427982C> T null Q * 106 106 stop gained 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1293874115 22q11.22 22 22427983A> T null Q L 106 106 missense 0.951 probably damaging 0.08 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1355499669 22q11.22 22 22427985T> C null S P 107 107 missense 0.0 benign 1.0 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs760465528 22q11.22 22 22427990G> C null E D 108 108 missense 0.214 benign 0.03 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed rs537631243 22q11.22 22 22427995A> G null E G 110 110 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ESP,ExAC,TOPMed rs373837689 22q11.22 22 22427997G> C null A P 111 111 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1217701076 22q11.22 22 22427998C> T null A V 111 111 missense 0.889 possibly damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1389365417 22q11.22 22 22428000G> A null D N 112 112 missense 0.951 probably damaging 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs757516840 22q11.22 22 22428010G> T null C F 115 115 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs757516840 22q11.22 22 22428010G> C null C S 115 115 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs527509945 22q11.22 22 22428022C> T null P L 119 119 9.98E-4 missense 0.063 benign 0.02 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs527509945 22q11.22 22 22428022C> A null P Q 119 119 9.98E-4 missense 0.063 benign 0.08 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1013113495 22q11.22 22 22428021C> T null P S 119 119 missense 0.04 benign 0.11 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 ExAC,gnomAD rs769253727 22q11.22 22 22428024A> G null S G 120 120 missense 0.005 benign 0.5 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1420677651 22q11.22 22 22428026C> G null S R 120 120 missense 0.028 benign 0.07 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 1000Genomes,ExAC,TOPMed,gnomAD rs560421653 22q11.22 22 22428028A> G null N S 121 121 9.98E-4 missense 0.0 benign 0.96 tolerated 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 TOPMed,gnomAD rs1436075428 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22428031C> A null A D 122 122 missense 0.832 possibly damaging 0.0 deleterious 0 A0A075B6J1 IGLV5-37 Immunoglobulin lambda variable 5-37 gnomAD rs1358198474 22q11.22 22 22428030G> T null A S 122 122 missense 0.138 benign 0.39 tolerated 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs757915603 22q11.22 22 22588217C> T null A V 2 2 missense 0.24 benign 0.03 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1405078494 22q11.22 22 22588221G> A null W * 3 3 stop gained 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1282031990 22q11.22 22 22588223C> A null A D 4 4 missense 0.154 benign 0.02 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1282031990 22q11.22 22 22588223C> T null A V 4 4 missense 0.67 possibly damaging 0.05 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs770487014 22q11.22 22 22588228C> A null L I 6 6 missense 0.701 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1338570146 22q11.22 22 22588229T> C null L P 6 6 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs375359097 22q11.22 22 22588238C> T null T I 9 9 missense 0.216 benign 0.06 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs375359097 22q11.22 22 22588238C> G null T S 9 9 missense 0.062 benign 0.22 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1490888567 22q11.22 22 22588243C> T null L F 11 11 missense 0.664 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1223365500 22q11.22 22 22588249C> T null Q * 13 13 stop gained 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 Ensembl rs915349877 22q11.22 22 22588252G> A null G S 14 14 missense 0.341 benign 0.56 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 1000Genomes,ExAC,gnomAD rs571490019 22q11.22 22 22588384C> T null S F 17 17 2.0E-4 missense 0.341 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed rs1448026255 22q11.22 22 22588387G> A null W * 18 18 stop gained 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1163706032 22q11.22 22 22588386T> C null W R 18 18 missense 0.535 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ESP,ExAC,TOPMed,gnomAD rs374443067 22q11.22 22 22588389G> A null A T 19 19 missense 0.774 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1288893502 22q11.22 22 22588396C> A null S Y 21 21 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,NCI-TCGA,gnomAD rs772354626 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22588398G> C null A P 22 22 missense 0.137 benign 0.17 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs772354626 22q11.22 22 22588398G> A null A T 22 22 missense 0.145 benign 0.14 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs755821156 22q11.22 22 22588408A> G null Q R 25 25 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 Ensembl rs112677281 22q11.22 22 22588413C> G null P A 27 27 missense 0.018 benign 0.31 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 Ensembl rs112677281 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22588413C> T null P S 27 27 missense 0.055 benign 0.42 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed rs1300482238 22q11.22 22 22588417T> C null F S 28 28 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs779806067 22q11.22 22 22588423C> G null S C 30 30 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143638085 22q11.22 22 22588425G> A null G R 31 31 3.99E-4 missense 0.56 possibly damaging 0.05 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143638085 22q11.22 22 22588425G> T null G W 31 31 3.99E-4 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,NCI-TCGA,TOPMed,gnomAD rs747035412 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22588428G> A null A T 32 32 missense 0.014 benign 0.51 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed rs1406729370 22q11.22 22 22588435G> A null G E 34 34 missense 0.946 probably damaging 0.02 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1241300166 22q11.22 22 22588438A> G null Q R 35 35 missense 0.216 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ESP,ExAC,TOPMed,gnomAD rs373304600 22q11.22 22 22588441C> T null S L 36 36 missense 0.044 benign 0.06 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ESP,ExAC,gnomAD rs377509863 22q11.22 22 22588443G> T null V F 37 37 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ESP,ExAC,gnomAD rs377509863 22q11.22 22 22588443G> A null V I 37 37 missense 0.319 benign 0.11 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs765425570 22q11.22 22 22588446A> G null T A 38 38 missense 0.844 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed rs964015791 22q11.22 22 22588447C> G null T S 38 38 missense 0.563 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs775965565 22q11.22 22 22588449A> G null I V 39 39 missense 0.506 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs763475621 22q11.22 22 22588455T> C null C R 41 41 missense 0.75 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs764683235 22q11.22 22 22588458A> G null T A 42 42 missense 0.007 benign 0.39 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs756651687 22q11.22 22 22588462G> A null G E 43 43 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs752123026 22q11.22 22 22588461G> A null G R 43 43 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 1000Genomes,ExAC,gnomAD rs535879280 22q11.22 22 22588465C> T null T I 44 44 3.99E-4 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1221436335 22q11.22 22 22588467A> T null S C 45 45 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1178587285 22q11.22 22 22588468G> A null S N 45 45 missense 0.341 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 Ensembl rs1569252912 22q11.22 22 22588474A> T null D V 47 47 missense 0.455 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs755765219 22q11.22 22 22588477T> C null V A 48 48 missense 0.183 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1465398825 22q11.22 22 22588476G> T null V F 48 48 missense 0.103 benign 0.05 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1465398825 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22588476G> A null V I 48 48 missense 0.021 benign 1.0 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1377281111 22q11.22 22 22588479G> A null G R 49 49 missense 0.529 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs779752640 22q11.22 22 22588487T> A null Y * 51 51 stop gained 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1489094975 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22588488G> A null D N 52 52 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed rs1438224126 22q11.22 22 22588489A> T null D V 52 52 missense 0.291 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1265583479 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22588491C> A null H N 53 53 missense 0.011 benign 0.22 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs749071974 22q11.22 22 22588497T> A null F I 55 55 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs754783251 22q11.22 22 22588500T> C null W R 56 56 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs748149360 22q11.22 22 22588505C> A null Y * 57 57 stop gained 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs778756898 22q11.22 22 22588503T> A null Y N 57 57 missense 0.895 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs781309750 22q11.22 22 22588510A> T null K M 59 59 missense 0.037 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,NCI-TCGA,TOPMed,gnomAD rs745973260 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22588512C> T null R C 60 60 missense 0.012 benign 0.15 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs552993667 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22588513G> A null R H 60 60 2.0E-4 missense 0.0 benign 0.65 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs763350013 22q11.22 22 22588516T> C null L P 61 61 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs775910599 22q11.22 22 22588515C> G null L V 61 61 missense 0.093 benign 0.01 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs769144330 22q11.22 22 22588519G> T null S I 62 62 missense 0.33 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113471880 22q11.22 22 22588520C> A null S R 62 62 0.002596 missense 0.244 benign 0.01 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1395678417 22q11.22 22 22588522C> T null T I 63 63 missense 0.127 benign 0.02 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1370152374 22q11.22 22 22588532A> T null R S 66 66 missense 0.212 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs749948309 22q11.22 22 22588542T> G null Y D 70 70 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1285228072 22q11.22 22 22588545A> T null N Y 71 71 missense 0.003 benign 0.23 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs760164514 22q11.22 22 22588552A> G null N S 73 73 missense 0.014 benign 1.0 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs753494641 22q11.22 22 22588555C> T null T I 74 74 missense 0.203 benign 0.08 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs754728331 22q11.22 22 22588557C> G null R G 75 75 missense 0.343 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,NCI-TCGA,TOPMed,gnomAD rs752483418 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22588558G> A null R Q 75 75 missense 0.626 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs754728331 22q11.22 22 22588557C> T null R W 75 75 missense 0.343 benign 0.03 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1481838701 22q11.22 22 22588560C> A null P T 76 76 missense 0.932 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs745945981 22q11.22 22 22588563T> A null S T 77 77 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 Ensembl rs774366857 22q11.22 22 22588569A> T null I F 79 79 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs770004607 22q11.22 22 22588585C> T null S L 84 84 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185353299 22q11.22 22 22588588G> C null G A 85 85 7.99E-4 missense 0.825 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185353299 22q11.22 22 22588588G> A null G D 85 85 7.99E-4 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1421564536 22q11.22 22 22588587G> A null G S 85 85 missense 0.93 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185353299 22q11.22 22 22588588G> T null G V 85 85 7.99E-4 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1323062224 22q11.22 22 22588591C> A null S Y 86 86 missense 0.977 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ESP,ExAC,TOPMed,gnomAD rs371210535 22q11.22 22 22588594A> G null K R 87 87 missense 0.324 benign 0.11 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs772622663 22q11.22 22 22588606T> C null M T 91 91 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 1000Genomes,ExAC,TOPMed,gnomAD rs575526484 22q11.22 22 22588605A> G null M V 91 91 2.0E-4 missense 0.063 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs773607244 22q11.22 22 22588612C> T null S F 93 93 missense 0.341 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 Ensembl rs574063691 22q11.22 22 22588611T> C null S P 93 93 missense 0.958 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs1364676335 22q11.22 22 22588618C> T null T I 95 95 missense 0.455 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs760167550 22q11.22 22 22588622C> G null I M 96 96 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs764909811 22q11.22 22 22588640G> C null E D 102 102 missense 0.242 benign 0.04 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,TOPMed,gnomAD rs759167534 22q11.22 22 22588638G> A null E K 102 102 missense 0.476 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs758184004 22q11.22 22 22588641G> A null V I 103 103 missense 0.017 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1243823863 22q11.22 22 22588644G> A null E K 104 104 missense 0.662 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1187702420 22q11.22 22 22588648C> G null A G 105 105 missense 0.408 benign 0.06 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs750281497 22q11.22 22 22588647G> T null A S 105 105 missense 0.955 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs750281497 22q11.22 22 22588647G> A null A T 105 105 missense 0.783 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs756219839 22q11.22 22 22588651A> T null N I 106 106 missense 0.013 benign 0.07 tolerated - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs780299768 22q11.22 22 22588654A> G null Y C 107 107 missense 0.705 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 Ensembl rs543282412 22q11.22 22 22588657A> T null H L 108 108 missense 0.093 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs749425273 22q11.22 22 22588658C> G null H Q 108 108 missense 0.405 benign 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 TOPMed,gnomAD rs920974345 22q11.22 22 22588660G> A null C Y 109 109 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 gnomAD rs1404892993 22q11.22 22 22588668T> C null Y H 112 112 missense 0.968 probably damaging 0.02 deleterious - low confidence 0 A0A075B6J2 IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 ExAC,gnomAD rs755251434 22q11.22 22 22588676T> A null S R 114 114 missense 0.03 benign 0.12 tolerated - low confidence 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1163225839 22q11.22 22 22704332G> C null A P 2 2 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs1348956131 22q11.22 22 22704336G> A null W * 3 3 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1318388754 22q11.22 22 22704335T> C null W R 3 3 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1392208443 22q11.22 22 22704339C> T null A V 4 4 missense 0.013 benign 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,TOPMed,gnomAD rs73878704 22q11.22 22 22704344C> T null L F 6 6 0.002596 missense 0.749 possibly damaging 0.06 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1240299206 22q11.22 22 22704350C> T null L F 8 8 missense 0.731 possibly damaging 0.04 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs994118727 22q11.22 22 22704354C> T null P L 9 9 missense 0.012 benign 0.26 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs1045783839 22q11.22 22 22704357T> A null L H 10 10 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs1045783839 22q11.22 22 22704357T> G null L R 10 10 missense 0.98 probably damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1290367616 22q11.22 22 22704359C> A null L I 11 11 missense 0.678 possibly damaging 0.05 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1243071165 22q11.22 22 22704365C> G null L V 13 13 missense 0.145 benign 0.4 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,gnomAD rs574606422 22q11.22 22 22704370C> A null Y * 14 14 2.0E-4 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs757265802 22q11.22 22 22704369A> G null Y C 14 14 missense 0.0 benign 1.0 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,TOPMed,gnomAD rs540111733 22q11.22 22 22704371A> G null T A 15 15 0.001997 missense 0.109 benign 0.05 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1361678280 22q11.22 22 22704372C> A null T K 15 15 missense 0.89 possibly damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1330634558 22q11.22 22 22704524G> A null G D 16 16 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1158644054 22q11.22 22 22704526T> A null S T 17 17 missense 0.341 benign 0.03 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs754390513 22q11.22 22 22704533C> T null A V 19 19 missense 0.078 benign 0.08 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,gnomAD rs558996746 22q11.22 22 22704536C> A null S Y 20 20 3.99E-4 missense 0.92 probably damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs777394907 22q11.22 22 22704540T> A null Y * 21 21 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs758080307 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22704539A> G null Y C 21 21 missense 0.946 probably damaging 0.06 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs758080307 22q11.22 22 22704539A> T null Y F 21 21 missense 0.103 benign 0.19 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs751341061 22q11.22 22 22704543G> C null E D 22 22 missense 0.044 benign 0.49 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1199317795 22q11.22 22 22704542A> G null E G 22 22 missense 0.07 benign 0.31 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs781265052 22q11.22 22 22704550C> T null Q * 25 25 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs781265052 22q11.22 22 22704550C> G null Q E 25 25 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs768789022 22q11.22 22 22704552G> C null Q H 25 25 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs779148972 22q11.22 22 22704553C> A null L I 26 26 missense 0.148 benign 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1477511106 22q11.22 22 22704554T> C null L P 26 26 missense 0.007 benign 1.0 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,TOPMed,gnomAD rs537934910 22q11.22 22 22704557C> T null P L 27 27 3.99E-4 missense 0.378 benign 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1421182335 22q11.22 22 22704556C> T null P S 27 27 missense 0.205 benign 0.25 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1169320819 22q11.22 22 22704559T> G null S A 28 28 missense 0.309 benign 0.15 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1421402233 22q11.22 22 22704560C> T null S L 28 28 missense 0.514 possibly damaging 0.04 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 Ensembl rs764836464 22q11.22 22 22704563T> C null V A 29 29 missense 0.492 possibly damaging 0.07 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1307822764 22q11.22 22 22704562G> T null V L 29 29 missense 0.278 benign 0.07 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs9623874 22q11.22 22 22704568G> T null V L 31 31 0.03275 missense 0.816 possibly damaging 0.03 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1434000885 22q11.22 22 22704572C> T null S F 32 32 missense 0.661 possibly damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1364346684 22q11.22 22 22704574C> T null P S 33 33 missense 0.561 possibly damaging 0.27 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs762697882 22q11.22 22 22704578G> C null G A 34 34 missense 0.94 probably damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs762697882 22q11.22 22 22704578G> A null G E 34 34 missense 0.94 probably damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs764666624 22q11.22 22 22704577G> A null G R 34 34 missense 0.901 possibly damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1291069265 22q11.22 22 22704580C> T null Q * 35 35 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5751529 22q11.22 22 22704584C> A null T K 36 36 0.3271 missense 0.807 possibly damaging 0.07 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1451447167 22q11.22 22 22704583A> C null T P 36 36 missense 0.612 possibly damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5751529 22q11.22 22 22704584C> G null T R 36 36 0.3271 missense 0.706 possibly damaging 0.11 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1485956061 22q11.22 22 22704589A> G null R G 38 38 missense 0.285 benign 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs1260354504 22q11.22 22 22704595A> G null T A 40 40 missense 0.912 probably damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs909264349 22q11.22 22 22704596C> T null T I 40 40 missense 0.957 probably damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs909264349 22q11.22 22 22704596C> G null T S 40 40 missense 0.912 probably damaging 0.25 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs763784580 22q11.22 22 22704599G> T null C F 41 41 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs763784580 22q11.22 22 22704599G> A null C Y 41 41 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1412938032 22q11.22 22 22704602C> G null S C 42 42 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1403463655 22q11.22 22 22704605G> A null G E 43 43 missense 0.902 possibly damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184935478 22q11.22 22 22704609T> G null D E 44 44 2.0E-4 missense 0.089 benign 0.23 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1347195243 22q11.22 22 22704610G> A null V I 45 45 missense 0.005 benign 0.32 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs750329981 22q11.22 22 22704614T> C null L P 46 46 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs767425369 22q11.22 22 22704613C> G null L V 46 46 missense 0.144 benign 0.16 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 Ensembl rs865878578 22q11.22 22 22704616G> A null G R 47 47 missense 0.139 benign 0.17 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5751530 22q11.22 22 22704619G> A null E K 48 48 0.3271 missense 0.003 benign 0.69 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs748227047 22q11.22 22 22704622A> C null N H 49 49 missense 0.038 benign 0.1 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC rs758456501 22q11.22 22 22704623A> T null N I 49 49 missense 0.038 benign 0.1 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1226974748 22q11.22 22 22704625T> C null Y H 50 50 missense 0.378 benign 0.05 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,gnomAD rs189315021 22q11.22 22 22704629C> G null A G 51 51 3.99E-4 missense 0.285 benign 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1286699766 22q11.22 22 22704628G> A null A T 51 51 missense 0.221 benign 0.15 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,gnomAD rs189315021 22q11.22 22 22704629C> T null A V 51 51 3.99E-4 missense 0.07 benign 1.0 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1260560213 22q11.22 22 22704631G> C null D H 52 52 missense 0.017 benign 1.0 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs771214189 22q11.22 22 22704636G> A null W * 53 53 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs747257568 22q11.22 22 22704634T> C null W R 53 53 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1187634660 22q11.22 22 22704639C> G null Y * 54 54 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,gnomAD rs531372378 22q11.22 22 22704643C> T null Q * 56 56 2.0E-4 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs746322636 22q11.22 22 22704646A> T null K * 57 57 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs770257558 22q11.22 22 22704647A> C null K T 57 57 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1183811297 22q11.22 22 22704649C> T null P S 58 58 missense 0.858 possibly damaging 0.08 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs776027885 22q11.22 22 22704653G> A null G D 59 59 missense 0.777 possibly damaging 0.04 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1462101330 22q11.22 22 22704652G> A null G S 59 59 missense 0.918 probably damaging 0.05 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs776027885 22q11.22 22 22704653G> T null G V 59 59 missense 0.955 probably damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC rs763581770 22q11.22 22 22704655C> A null Q K 60 60 missense 0.514 possibly damaging 0.11 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 Ensembl rs386819979 22q11.22 22 22704656_22704663delinsTGATATA C null Q LIY 60 62 missense 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1242889878 22q11.22 22 22704656A> G null Q R 60 60 missense 0.271 benign 0.05 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed rs773987826 22q11.22 22 22704658G> C null A P 61 61 missense 0.514 possibly damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed rs773987826 22q11.22 22 22704658G> T null A S 61 61 missense 0.429 benign 0.17 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed rs773987826 22q11.22 22 22704658G> A null A T 61 61 missense 0.529 possibly damaging 0.09 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,TOPMed,gnomAD rs62218411 22q11.22 22 22704659C> T null A V 61 61 0.1655 missense 0.514 possibly damaging 0.06 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 Ensembl rs386819980 22q11.22 22 22704659_22704663delinsTCTGATATA C null A V 61 61 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 Ensembl rs1555879315 22q11.22 22 22704661_22704663delinsTGATATA C null P * 62 62 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 Ensembl rs76514756 22q11.22 22 22704662C> G null P R 62 62 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs78292630 22q11.22 22 22704661C> T null P S 62 62 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs76734836 22q11.22 22 22704665_22704666insTATATG A null E D 63 63 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs756012076 22q11.22 22 22704666G> C null E D 63 63 missense 0.632 possibly damaging 0.03 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 Ensembl rs1568957278 22q11.22 22 22704665A> G null E G 63 63 missense 0.038 benign 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC rs750276665 22q11.22 22 22704664G> C null E Q 63 63 missense 0.113 benign 0.05 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 Ensembl rs1568957292 22q11.22 22 22704667T> G null L V 64 64 missense 0.594 possibly damaging 0.04 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373289750 22q11.22 22 22704670G> C null V L 65 65 5.99E-4 missense 0.383 benign 0.33 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373289750 22q11.22 22 22704670G> A null V M 65 65 5.99E-4 missense 0.98 probably damaging 0.03 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs747193480 22q11.22 22 22704675A> G null I M 66 66 missense 0.944 probably damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs777715807 22q11.22 22 22704674T> C null I T 66 66 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs781435247 22q11.22 22 22704678C> A null Y * 67 67 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs757489617 22q11.22 22 22704676T> A null Y N 67 67 missense 0.795 possibly damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs530284832 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22704679G> A null E K 68 68 2.0E-4 missense 0.017 benign 1.0 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,TOPMed,gnomAD rs530284832 22q11.22 22 22704679G> C null E Q 68 68 2.0E-4 missense 0.113 benign 0.5 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs749764337 22q11.22 22 22704683A> G null D G 69 69 missense 0.457 possibly damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs749764337 22q11.22 22 22704683A> T null D V 69 69 missense 0.96 probably damaging 0.08 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1277213269 22q11.22 22 22704685A> G null S G 70 70 missense 0.285 benign 0.05 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC rs773758207 22q11.22 22 22704686G> C null S T 70 70 missense 0.144 benign 0.15 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC rs773046068 22q11.22 22 22704690G> T null E D 71 71 missense 0.06 benign 0.34 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC rs771818385 22q11.22 22 22704689A> T null E V 71 71 missense 0.834 possibly damaging 0.06 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140467443 22q11.22 22 22704692G> T null R L 72 72 2.0E-4 missense 0.718 possibly damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140467443 22q11.22 22 22704692G> A null R Q 72 72 2.0E-4 missense 0.816 possibly damaging 0.03 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs181740395 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22704691C> T null R W 72 72 0.001997 missense 0.899 possibly damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1176546024 22q11.22 22 22704695A> C null Y S 73 73 missense 0.0 benign 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1173263025 22q11.22 22 22704698C> T null P L 74 74 missense 0.017 benign 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs764183090 22q11.22 22 22704697C> T null P S 74 74 missense 0.003 benign 1.0 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs751619989 22q11.22 22 22704704T> C null I T 76 76 missense 0.94 probably damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs1166519489 22q11.22 22 22704707C> A null P H 77 77 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs1166519489 22q11.22 22 22704707C> G null P R 77 77 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs569134161 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.22 22 22704712C> T null R * 79 79 2.0E-4 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149986188 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22704713G> A null R Q 79 79 0.001198 missense 0.95 probably damaging 0.05 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs750714907 22q11.22 22 22704715T> C null F L 80 80 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs756407414 22q11.22 22 22704717C> A null F L 80 80 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs750714907 22q11.22 22 22704715T> G null F V 80 80 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1205055634 22q11.22 22 22704722G> A null G E 82 82 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1055477743 22q11.22 22 22704725C> T null S F 83 83 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs747637840 22q11.22 22 22704738C> A null N K 87 87 missense 0.393 benign 0.13 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1273758061 22q11.22 22 22704737A> G null N S 87 87 missense 0.205 benign 0.11 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ESP,ExAC rs374957536 22q11.22 22 22704740C> T null T M 88 88 missense 0.891 possibly damaging 0.07 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC rs772994853 22q11.22 22 22704739A> C null T P 88 88 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs776309348 22q11.22 22 22704742A> G null T A 89 89 missense 0.001 benign 1.0 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1258711532 22q11.22 22 22704743C> G null T S 89 89 missense 0.054 benign 0.03 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ESP,ExAC,TOPMed,gnomAD rs376739572 22q11.22 22 22704746C> A null T N 90 90 missense 0.902 possibly damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,TOPMed,gnomAD rs533692506 22q11.22 22 22704752C> T null T I 92 92 2.0E-4 missense 0.871 possibly damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,TOPMed,gnomAD rs533692506 22q11.22 22 22704752C> A null T N 92 92 2.0E-4 missense 0.871 possibly damaging 0.02 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,gnomAD rs568549810 22q11.22 22 22704751A> T null T S 92 92 5.99E-4 missense 0.891 possibly damaging 0.05 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 Ensembl rs1568957420 22q11.22 22 22704756C> G null I M 93 93 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs756020206 22q11.22 22 22704758G> A null S N 94 94 missense 0.733 possibly damaging 0.04 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,TOPMed,gnomAD rs186648456 22q11.22 22 22704759C> G null S R 94 94 2.0E-4 missense 0.612 possibly damaging 0.03 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs756020206 22q11.22 22 22704758G> C null S T 94 94 missense 0.401 benign 0.36 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs755417609 22q11.22 22 22704760A> G null R G 95 95 missense 0.007 benign 1.0 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs748731350 22q11.22 22 22704761G> A null R K 95 95 missense 0.065 benign 0.03 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,gnomAD rs755417609 22q11.22 22 22704760A> T null R W 95 95 missense 0.14 benign 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs1030572450 22q11.22 22 22704763G> A null V I 96 96 missense 0.393 benign 0.09 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ESP,ExAC,TOPMed,gnomAD rs374444373 22q11.22 22 22704772G> T null E * 99 99 stop gained 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs769699549 22q11.22 22 22704773A> G null E G 99 99 missense 0.393 benign 0.18 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374444373 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22704772G> A null E K 99 99 missense 0.733 possibly damaging 0.08 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1317247944 22q11.22 22 22704776A> C null D A 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ExAC,TOPMed,gnomAD rs545678417 22q11.22 22 22704777C> A null D E 100 100 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,NCI-TCGA,gnomAD rs762895873 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22704775G> C null D H 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ESP,ExAC,TOPMed,gnomAD rs368688020 22q11.22 22 22704778G> A null E K 101 101 missense 0.94 probably damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ESP,ExAC,TOPMed,gnomAD rs372309666 22q11.22 22 22704782C> G null A G 102 102 missense 0.901 possibly damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1490190880 22q11.22 22 22704781G> C null A P 102 102 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1490190880 22q11.22 22 22704781G> T null A S 102 102 missense 0.967 probably damaging 0.03 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ESP,ExAC,TOPMed,gnomAD rs372309666 22q11.22 22 22704782C> T null A V 102 102 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1267010262 22q11.22 22 22704787T> G null Y D 104 104 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1450027089 22q11.22 22 22704788A> T null Y F 104 104 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs779919299 22q11.22 22 22704791A> G null Y C 105 105 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,gnomAD rs556449973 22q11.22 22 22704790T> G null Y D 105 105 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs779919299 22q11.22 22 22704791A> T null Y F 105 105 missense 0.857 possibly damaging 0.08 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,gnomAD rs556449973 22q11.22 22 22704790T> A null Y N 105 105 2.0E-4 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1370673898 22q11.22 22 22704793T> C null C R 106 106 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ESP,ExAC,TOPMed,gnomAD rs367824195 22q11.22 22 22704794G> C null C S 106 106 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ESP,ExAC,TOPMed,gnomAD rs367824195 22q11.22 22 22704794G> A null C Y 106 106 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1269358458 22q11.22 22 22704802G> A null G R 109 109 missense 0.007 benign 0.25 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 gnomAD rs1163033331 22q11.22 22 22704803G> T null G V 109 109 missense 0.013 benign 0.34 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs9623875 22q11.22 22 22704805G> A null D N 110 110 0.3307 missense 0.229 benign 0.01 deleterious 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed rs1283779883 22q11.22 22 22704808G> A null E K 111 111 missense 0.006 benign 0.2 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 TOPMed,gnomAD rs1046010323 22q11.22 22 22704812A> G null D G 112 112 missense 0.012 benign 0.18 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC,TOPMed,gnomAD rs777375937 22q11.22 22 22704811G> A null D N 112 112 missense 0.005 benign 0.57 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 Ensembl rs1568957524 22q11.22 22 22704815A> G null N S 113 113 missense 0.009 benign 0.62 tolerated 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC rs756852725 22q11.22 22 22704818C> A null P H 114 114 missense 0.454 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6J6 IGLV3-22 Immunoglobulin lambda variable 3-22 ExAC rs770087815 22q11.22 22 22704820_22704821insG A null S * 115 115 stop gained 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1409190551 22q11.22 22 22734628G> A null W * 3 3 stop gained 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1306096116 22q11.22 22 22734629G> A null A T 4 4 missense 0.048 benign 0.29 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs532136232 22q11.22 22 22734630C> T null A V 4 4 2.0E-4 missense 0.455 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs1387933526 22q11.22 22 22734633T> C null L P 5 5 missense 0.214 benign 0.3 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs774480638 22q11.22 22 22734635C> A null L I 6 6 missense 0.238 benign 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs375688115 22q11.22 22 22734638C> T null L F 7 7 0.01338 missense 0.108 benign 0.1 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs971341384 22q11.22 22 22734639T> C null L P 7 7 missense 0.165 benign 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs971341384 22q11.22 22 22734639T> G null L R 7 7 missense 0.953 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs750663644 22q11.22 22 22734642T> G null L R 8 8 missense 0.901 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs533956069 22q11.22 22 22734645C> T null T I 9 9 2.0E-4 missense 0.061 benign 0.06 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs533956069 22q11.22 22 22734645C> A null T N 9 9 2.0E-4 missense 0.554 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs533956069 22q11.22 22 22734645C> G null T S 9 9 2.0E-4 missense 0.027 benign 0.21 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs754245429 22q11.22 22 22734653A> C null T P 12 12 missense 0.892 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs1191313584 22q11.22 22 22734658G> C null Q H 13 13 missense 0.168 benign 0.63 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs755497011 22q11.22 22 22734659G> T null G C 14 14 missense 0.076 benign 0.22 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs752183249 22q11.22 22 22734663C> T null T I 15 15 missense 0.891 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs779354661 22q11.22 22 22734662A> T null T S 15 15 missense 0.125 benign 0.11 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1210906023 22q11.22 22 22734782G> A null G E 16 16 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs747158318 22q11.22 22 22734787T> G null W G 18 18 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,TOPMed,gnomAD rs370314307 22q11.22 22 22734790G> A null A T 19 19 missense 0.662 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1186832437 22q11.22 22 22734797C> A null S Y 21 21 missense 0.924 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs776730525 22q11.22 22 22734799G> T null A S 22 22 missense 0.158 benign 0.1 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs1270616062 22q11.22 22 22734800C> T null A V 22 22 missense 0.042 benign 0.84 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,gnomAD rs373632302 22q11.22 22 22734806C> T null T I 24 24 missense 0.165 benign 0.06 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC rs765553935 22q11.22 22 22734811C> G null P A 26 26 missense 0.445 benign 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs775964601 22q11.22 22 22734814C> G null P A 27 27 missense 0.011 benign 0.5 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1456961727 22q11.22 22 22734818C> T null S F 28 28 missense 0.229 benign 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed,gnomAD rs1330236349 22q11.22 22 22734821T> A null V E 29 29 missense 0.768 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370481895 22q11.22 22 22734820G> C null V L 29 29 2.0E-4 missense 0.031 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370481895 22q11.22 22 22734820G> A null V M 29 29 2.0E-4 missense 0.285 benign 0.05 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs767223192 22q11.22 22 22734827G> C null G A 31 31 missense 0.361 benign 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,TOPMed,gnomAD rs375278960 22q11.22 22 22734826G> A null G R 31 31 missense 0.246 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs540826258 22q11.22 22 22734830C> T null S F 32 32 missense 0.796 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs540826258 22q11.22 22 22734830C> A null S Y 32 32 missense 0.796 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1328880242 22q11.22 22 22734836G> A null G E 34 34 missense 0.805 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,gnomAD rs531731017 22q11.22 22 22734840G> C null Q H 35 35 2.0E-4 missense 0.072 benign 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed,gnomAD rs1361411133 22q11.22 22 22734838C> A null Q K 35 35 missense 0.031 benign 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs754905752 22q11.22 22 22734841T> C null S P 36 36 missense 0.722 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1479577679 22q11.22 22 22734845T> C null V A 37 37 missense 0.757 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed,gnomAD rs976650386 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22734844G> A null V I 37 37 missense 0.062 benign 0.12 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1254034305 22q11.22 22 22734850A> C null I L 39 39 missense 0.118 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs781436743 22q11.22 22 22734856T> C null C R 41 41 missense 0.5 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs781436743 22q11.22 22 22734856T> A null C S 41 41 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs746049142 22q11.22 22 22734858C> G null C W 41 41 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs770103303 22q11.22 22 22734859A> G null T A 42 42 missense 0.003 benign 0.41 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs763481626 22q11.22 22 22734866C> T null T I 44 44 missense 0.918 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs763481626 22q11.22 22 22734866C> G null T S 44 44 missense 0.037 benign 1.0 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs775014700 22q11.22 22 22734869G> A null S N 45 45 missense 0.229 benign 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs775014700 22q11.22 22 22734869G> C null S T 45 45 missense 0.341 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs761360607 22q11.22 22 22734871A> T null S C 46 46 missense 0.072 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs766903198 22q11.22 22 22734872G> A null S N 46 46 missense 0.019 benign 0.23 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs760227804 22q11.22 22 22734878T> C null V A 48 48 missense 0.024 benign 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed,gnomAD rs1460914391 22q11.22 22 22734877G> T null V F 48 48 missense 0.018 benign 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed,gnomAD rs1460914391 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22734877G> A null V I 48 48 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,gnomAD rs376007831 22q11.22 22 22734881G> C null G A 49 49 missense 0.433 benign 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,TOPMed,gnomAD rs372445871 22q11.22 22 22734880G> C null G R 49 49 missense 0.433 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,TOPMed,gnomAD rs372445871 22q11.22 22 22734880G> A null G S 49 49 missense 0.935 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,gnomAD rs376007831 22q11.22 22 22734881G> T null G V 49 49 missense 0.967 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs562128012 22q11.22 22 22734883A> T null S C 50 50 3.99E-4 missense 0.438 benign 0.05 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs562128012 22q11.22 22 22734883A> G null S G 50 50 3.99E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,gnomAD rs527807270 22q11.22 22 22734884G> T null S I 50 50 2.0E-4 missense 0.003 benign 0.17 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,gnomAD rs527807270 22q11.22 22 22734884G> A null S N 50 50 2.0E-4 missense 0.001 benign 0.38 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs562128012 22q11.22 22 22734883A> C null S R 50 50 3.99E-4 missense 0.0 benign 0.68 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,gnomAD rs527807270 22q11.22 22 22734884G> C null S T 50 50 2.0E-4 missense 0.003 benign 0.43 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC rs561082175 22q11.22 22 22734886_22734887ins G null Y * 51 51 stop gained 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,gnomAD rs1491416326 22q11.22 22 22734888_22734889de l null Y * 51 51 stop gained 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC rs774894113 22q11.22 22 22734887A> T null Y F 51 51 missense 0.03 benign 0.13 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs769168874 22q11.22 22 22734886T> C null Y H 51 51 missense 0.048 benign 0.12 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs762384703 22q11.22 22 22734889A> C null N H 52 52 missense 0.141 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs772589187 22q11.22 22 22734891C> A null N K 52 52 missense 0.097 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC rs772690094 22q11.22 22 22734890A> G null N S 52 52 missense 0.044 benign 0.1 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs760237001 22q11.22 22 22734892C> T null R C 53 53 missense 0.058 benign 0.11 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs753509043 22q11.22 22 22734893G> A null R H 53 53 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs753509043 22q11.22 22 22734893G> C null R P 53 53 missense 0.013 benign 0.12 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs760237001 22q11.22 22 22734892C> A null R S 53 53 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs1356517741 22q11.22 22 22734895G> A null V I 54 54 missense 0.118 benign 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP rs368582870 22q11.22 22 22734901T> G null W G 56 56 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs1312712020 22q11.22 22 22734902G> C null W S 56 56 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs1433086034 22q11.22 22 22734906C> A null Y * 57 57 stop gained 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1269782419 22q11.22 22 22734905A> T null Y F 57 57 missense 0.109 benign 0.07 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,gnomAD rs547565548 22q11.22 22 22734908A> G null Q R 58 58 2.0E-4 missense 0.246 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 Ensembl rs1568977711 22q11.22 22 22734910C> T null Q * 59 59 stop gained 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs750406647 22q11.22 22 22734914C> A null P H 60 60 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs750406647 22q11.22 22 22734914C> T null P L 60 60 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs570632656 22q11.22 22 22734913C> T null P S 60 60 2.0E-4 missense 0.0 benign 0.35 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs570632656 22q11.22 22 22734913C> A null P T 60 60 2.0E-4 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed,gnomAD rs1370424060 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22734917C> A null P Q 61 61 missense 0.119 benign 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed,gnomAD rs1370424060 22q11.22 22 22734917C> G null P R 61 61 missense 0.69 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73878735 22q11.22 22 22734922A> G null T A 63 63 0.002196 missense 0.056 benign 0.12 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs755296562 22q11.22 22 22734923C> A null T K 63 63 missense 0.003 benign 0.79 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes rs550046044 22q11.22 22 22734928C> T null P S 65 65 2.0E-4 missense 0.259 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs748586297 22q11.22 22 22734932A> G null K R 66 66 missense 0.214 benign 0.15 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,gnomAD rs374902755 22q11.22 22 22734934C> T null L F 67 67 missense 0.097 benign 0.04 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs746454253 22q11.22 22 22734935T> A null L H 67 67 missense 0.141 benign 0.06 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,gnomAD rs374902755 22q11.22 22 22734934C> G null L V 67 67 missense 0.062 benign 0.05 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs776160434 22q11.22 22 22734939G> T null M I 68 68 missense 0.003 benign 0.27 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,NCI-TCGA,gnomAD rs776160434 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22734939G> A null M I 68 68 missense 0.003 benign 0.27 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1223637663 22q11.22 22 22734937A> C null M L 68 68 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs770503794 22q11.22 22 22734938T> C null M T 68 68 missense 0.206 benign 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs764928067 22q11.22 22 22734944A> G null Y C 70 70 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs764928067 22q11.22 22 22734944A> T null Y F 70 70 missense 0.246 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs759167920 22q11.22 22 22734943T> A null Y N 70 70 missense 0.903 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149656926 22q11.22 22 22734948G> T null E D 71 71 0.007188 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149656926 22q11.22 22 22734948G> C null E D 71 71 0.007188 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1451425978 22q11.22 22 22734947A> G null E G 71 71 missense 0.0 benign 0.68 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs374197711 22q11.22 22 22734949G> A null V I 72 72 missense 0.125 benign 0.22 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs763884612 22q11.22 22 22734952A> G null S G 73 73 missense 0.144 benign 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1427310277 22q11.22 22 22734953G> A null S N 73 73 missense 0.003 benign 0.8 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs763884612 22q11.22 22 22734952A> C null S R 73 73 missense 0.03 benign 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1427310277 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22734953G> C null S T 73 73 missense 0.007 benign 0.16 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs535065737 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22734955A> G null N D 74 74 2.0E-4 missense 0.039 benign 0.14 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs554958950 22q11.22 22 22734957T> G null N K 74 74 2.0E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs766541442 22q11.22 22 22734956A> G null N S 74 74 missense 0.0 benign 0.48 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs535065737 22q11.22 22 22734955A> T null N Y 74 74 2.0E-4 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs755243028 22q11.22 22 22734958C> G null R G 75 75 missense 0.229 benign 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371571814 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22734959G> A null R Q 75 75 2.0E-4 missense 0.488 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs755243028 22q11.22 22 22734958C> T null R W 75 75 missense 0.229 benign 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs748465604 22q11.22 22 22734961C> G null P A 76 76 missense 0.118 benign 0.07 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs758812967 22q11.22 22 22734962C> T null P L 76 76 missense 0.361 benign 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed,gnomAD rs1320895829 22q11.22 22 22734965C> G null S * 77 77 stop gained 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed,gnomAD rs1320895829 22q11.22 22 22734965C> T null S L 77 77 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1313343231 22q11.22 22 22734964T> C null S P 77 77 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs747517999 22q11.22 22 22734968G> T null G V 78 78 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs776107495 22q11.22 22 22734971T> C null V A 79 79 missense 0.625 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs769371624 22q11.22 22 22734973C> T null P S 80 80 missense 0.028 benign 0.26 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs762612116 22q11.22 22 22734977A> G null D G 81 81 missense 0.019 benign 0.01 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,NCI-TCGA,TOPMed,gnomAD rs775020856 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22734976G> A null D N 81 81 missense 0.019 benign 0.13 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200668621 22q11.22 22 22734979C> T null R C 82 82 7.99E-4 missense 0.312 benign 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200668621 22q11.22 22 22734979C> G null R G 82 82 7.99E-4 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373202759 22q11.22 22 22734980G> A null R H 82 82 2.0E-4 missense 0.229 benign 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373202759 22q11.22 22 22734980G> C null R P 82 82 2.0E-4 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200668621 22q11.22 22 22734979C> A null R S 82 82 7.99E-4 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed,gnomAD rs1171812192 22q11.22 22 22734983T> C null F S 83 83 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs759699464 22q11.22 22 22734986C> G null S C 84 84 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs765505861 22q11.22 22 22734989G> T null G V 85 85 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC rs751929180 22q11.22 22 22734996G> T null K N 87 87 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,gnomAD rs369852131 22q11.22 22 22734994A> C null K Q 87 87 missense 0.927 probably damaging 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs757757685 22q11.22 22 22735001G> C null G A 89 89 missense 0.783 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs757757685 22q11.22 22 22735001G> A null G D 89 89 missense 0.632 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs1296493353 22q11.22 22 22735000G> A null G S 89 89 missense 0.783 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs868507383 22q11.22 22 22735005C> A null N K 90 90 missense 0.246 benign 0.01 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,NCI-TCGA,TOPMed,gnomAD rs745328084 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22735007C> T null T M 91 91 missense 0.387 benign 0.06 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs748942576 22q11.22 22 22735015C> G null L V 94 94 missense 0.935 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs768248510 22q11.22 22 22735018A> G null T A 95 95 missense 0.729 possibly damaging 0.06 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1212268146 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22735019C> T null T I 95 95 missense 0.246 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,TOPMed,gnomAD rs374060837 22q11.22 22 22735021A> G null I V 96 96 missense 0.101 benign 0.05 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs1323807212 22q11.22 22 22735028G> A null G E 98 98 missense 0.749 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs772073902 22q11.22 22 22735027G> A null G R 98 98 missense 0.529 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs772073902 22q11.22 22 22735027G> T null G W 98 98 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,gnomAD rs370426590 22q11.22 22 22735036G> A null A T 101 101 missense 0.554 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ESP,ExAC,gnomAD rs375107198 22q11.22 22 22735041G> T null E D 102 102 missense 0.166 benign 0.04 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs576844883 22q11.22 22 22735044C> A null D E 103 103 2.0E-4 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,gnomAD rs556795466 22q11.22 22 22735042G> A null D N 103 103 2.0E-4 missense 0.529 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1432848931 22q11.22 22 22735046A> C null E A 104 104 missense 0.935 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed,gnomAD rs1019890728 22q11.22 22 22735045G> A null E K 104 104 missense 0.57 possibly damaging 0.06 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs751887281 22q11.22 22 22735053T> A null D E 106 106 missense 0.031 benign 0.06 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs757633257 22q11.22 22 22735061G> T null C F 109 109 missense 0.962 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 TOPMed rs1426904096 22q11.22 22 22735060T> C null C R 109 109 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs781629985 22q11.22 22 22735063A> T null S C 110 110 missense 0.001 benign 0.24 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs781629985 22q11.22 22 22735063A> G null S G 110 110 missense 0.001 benign 0.13 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs750962085 22q11.22 22 22735065C> G null S R 110 110 missense 0.08 benign 0.06 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4822296 22q11.22 22 22735067T> C null L S 111 111 0.2079 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs756658566 22q11.22 22 22735066T> G null L V 111 111 missense 0.003 benign 0.05 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs768283059 22q11.22 22 22735069T> C null Y H 112 112 missense 0.978 probably damaging 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs747924354 22q11.22 22 22735072A> G null T A 113 113 missense 0.0 benign 0.73 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1277311126 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22735073C> G null T R 113 113 missense 0.0 benign 0.57 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed,gnomAD rs772022781 22q11.22 22 22735075A> G null S G 114 114 missense 0.0 benign 0.43 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed rs773178976 22q11.22 22 22735076G> A null S N 114 114 missense 0.005 benign 0.26 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,TOPMed rs773178976 22q11.22 22 22735076G> C null S T 114 114 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1230852414 22q11.22 22 22735078A> G null S G 115 115 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1478829398 22q11.22 22 22735079G> A null S N 115 115 missense 0.263 benign 0.08 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1230852414 22q11.22 22 22735078A> C null S R 115 115 missense 0.019 benign 0.03 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 gnomAD rs1191398136 22q11.22 22 22735081A> T null S C 116 116 missense 0.535 possibly damaging 0.05 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,NCI-TCGA rs562065153 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22735082G> A null S N 116 116 5.99E-4 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs775635721 22q11.22 22 22735085C> A null T N 117 117 missense 0.013 benign 0.13 tolerated - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 ExAC,gnomAD rs771049748 22q11.22 22 22735084A> C null T P 117 117 missense 0.013 benign 0.02 deleterious - low confidence 0 A0A075B6J9 IGLV2-18 Immunoglobulin lambda variable 2-18 1000Genomes,ExAC,TOPMed,gnomAD rs527743227 22q11.22 22 22735087T> C null F L 118 118 3.99E-4 missense 0.006 benign 0.49 tolerated - low confidence 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1161632702 22q11.22 22 22747424G> A null A T 2 2 missense 0.198 benign 0.03 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1385768548 22q11.22 22 22747425C> T null A V 2 2 missense 0.3 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs962517435 22q11.22 22 22747434C> G null P R 5 5 missense 0.056 benign 0.03 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1381661132 22q11.22 22 22747436C> T null L F 6 6 missense 0.369 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1381661132 22q11.22 22 22747436C> G null L V 6 6 missense 0.251 benign 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,TOPMed,gnomAD rs61748974 22q11.22 22 22747446C> T null P L 9 9 0.001398 missense 0.085 benign 0.23 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs557859563 22q11.22 22 22747445C> T null P S 9 9 2.0E-4 missense 0.281 benign 0.43 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1367307033 22q11.22 22 22747448C> G null L V 10 10 missense 0.036 benign 0.16 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1349353836 22q11.22 22 22747451C> G null L V 11 11 missense 0.804 possibly damaging 0.05 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs929935438 22q11.22 22 22747455C> T null T I 12 12 missense 0.047 benign 0.08 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1258219814 22q11.22 22 22747457C> T null L F 13 13 missense 0.059 benign 0.5 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1258219814 22q11.22 22 22747457C> G null L V 13 13 missense 0.04 benign 0.37 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1191817636 22q11.22 22 22747460T> A null C S 14 14 missense 0.816 possibly damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1442978743 22q11.22 22 22747461G> A null C Y 14 14 missense 0.028 benign 0.05 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs754330102 22q11.22 22 22747464C> T null T I 15 15 missense 0.953 probably damaging 0.03 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs754330102 22q11.22 22 22747464C> A null T K 15 15 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs551450718 22q11.22 22 22747621G> A null G D 16 16 5.99E-4 missense 0.433 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs755547436 22q11.22 22 22747466G> A null G S 16 16 missense 0.969 probably damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs779977437 22q11.22 22 22747630C> A null A D 19 19 missense 0.751 possibly damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs756005441 22q11.22 22 22747629G> T null A S 19 19 missense 0.102 benign 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs756005441 22q11.22 22 22747629G> A null A T 19 19 missense 0.062 benign 0.14 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1171717984 22q11.22 22 22747632T> C null S P 20 20 missense 0.229 benign 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs748172604 22q11.22 22 22747636A> G null Y C 21 21 missense 0.137 benign 0.06 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1460727258 22q11.22 22 22747635T> G null Y D 21 21 missense 0.751 possibly damaging 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1460727258 22q11.22 22 22747635T> A null Y N 21 21 missense 0.137 benign 0.06 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs748172604 22q11.22 22 22747636A> C null Y S 21 21 missense 0.062 benign 0.57 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs571416676 22q11.22 22 22747640G> C null E D 22 22 5.99E-4 missense 0.02 benign 0.48 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs747175614 22q11.22 22 22747641C> G null L V 23 23 missense 0.545 possibly damaging 0.12 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC,gnomAD rs370743562 22q11.22 22 22747644A> G null T A 24 24 missense 0.62 possibly damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC,gnomAD rs370743562 22q11.22 22 22747644A> C null T P 24 24 missense 0.165 benign 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs536803411 22q11.22 22 22747647C> T null Q * 25 25 2.0E-4 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1471168102 22q11.22 22 22747649G> T null Q H 25 25 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs536803411 22q11.22 22 22747647C> A null Q K 25 25 2.0E-4 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs763669153 22q11.22 22 22747651C> A null P Q 26 26 missense 0.119 benign 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,gnomAD rs375591094 22q11.22 22 22747650C> T null P S 26 26 3.99E-4 missense 0.031 benign 0.05 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs751166435 22q11.22 22 22747653C> G null P A 27 27 missense 0.02 benign 0.08 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs767270576 22q11.22 22 22747657C> T null S L 28 28 missense 0.154 benign 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs750124432 22q11.22 22 22747659G> T null V L 29 29 missense 0.037 benign 0.07 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs779924433 22q11.22 22 22747663C> G null S * 30 30 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs754955967 22q11.22 22 22747669C> G null S C 32 32 missense 0.886 possibly damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs754955967 22q11.22 22 22747669C> T null S F 32 32 missense 0.806 possibly damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes rs191152677 22q11.22 22 22747668T> A null S T 32 32 2.0E-4 missense 0.031 benign 0.25 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC,TOPMed,gnomAD rs368649720 22q11.22 22 22747672T> C null L P 33 33 missense 0.001 benign 0.42 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC,TOPMed,gnomAD rs368649720 22q11.22 22 22747672T> G null L R 33 33 missense 0.661 possibly damaging 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs553017666 22q11.22 22 22747671C> G null L V 33 33 7.99E-4 missense 0.049 benign 0.6 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs963461770 22q11.22 22 22747675G> A null G E 34 34 missense 0.324 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 Ensembl rs1568985098 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22747678A> G null Q R 35 35 missense 0.791 possibly damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs749792535 22q11.22 22 22747682G> A null M I 36 36 missense 0.003 benign 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1390207174 22q11.22 22 22747681T> C null M T 36 36 missense 0.0 benign 1.0 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1442815568 22q11.22 22 22747684C> A null A D 37 37 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs570556021 22q11.22 22 22747683G> A null A T 37 37 missense 0.926 probably damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1359734566 22q11.22 22 22747687G> A null R K 38 38 missense 0.007 benign 0.38 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs773733668 22q11.22 22 22747692A> G null T A 40 40 missense 0.397 benign 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs767024002 22q11.22 22 22747693C> T null T I 40 40 missense 0.635 possibly damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs773733668 22q11.22 22 22747692A> C null T P 40 40 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1352458726 22q11.22 22 22747695T> C null C R 41 41 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs766138122 22q11.22 22 22747699C> G null S C 42 42 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs766138122 22q11.22 22 22747699C> T null S F 42 42 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1238881986 22q11.22 22 22747698T> A null S T 42 42 missense 0.24 benign 0.45 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs765162443 22q11.22 22 22747702G> A null G E 43 43 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1376728452 22q11.22 22 22747701G> A null G R 43 43 missense 0.664 possibly damaging 0.03 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs764725101 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.22 22 22747704G> T null E * 44 44 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs757380666 22q11.22 22 22747706A> T null E D 44 44 missense 0.0 benign 1.0 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1184096516 22q11.22 22 22747705A> G null E G 44 44 missense 0.11 benign 0.1 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs764725101 22q11.22 22 22747704G> C null E Q 44 44 missense 0.337 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs756455005 22q11.22 22 22747708C> G null A G 45 45 missense 0.102 benign 0.2 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs781232537 22q11.22 22 22747707G> C null A P 45 45 missense 0.316 benign 0.1 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs781232537 22q11.22 22 22747707G> A null A T 45 45 missense 0.005 benign 0.21 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs756455005 22q11.22 22 22747708C> T null A V 45 45 missense 0.001 benign 0.22 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs769223975 22q11.22 22 22747711T> C null L S 46 46 missense 0.991 probably damaging 0.1 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs769223975 22q11.22 22 22747711T> G null L W 46 46 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs747567938 22q11.22 22 22747713C> G null P A 47 47 missense 0.005 benign 0.13 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs747567938 22q11.22 22 22747713C> T null P S 47 47 missense 0.003 benign 0.19 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs772644310 22q11.22 22 22747716A> C null K Q 48 48 missense 0.051 benign 0.24 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs766085317 22q11.22 22 22747719A> T null K * 49 49 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs766085317 22q11.22 22 22747719A> G null K E 49 49 missense 0.003 benign 0.39 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,NCI-TCGA,gnomAD rs545033113 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22747720A> T null K I 49 49 2.0E-4 missense 0.009 benign 0.1 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 NCI-TCGA rs746629447 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.22 22 22747715de l null K N 49 49 frameshift 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs766085317 22q11.22 22 22747719A> C null K Q 49 49 missense 0.006 benign 0.25 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs545033113 22q11.22 22 22747720A> C null K T 49 49 2.0E-4 missense 0.111 benign 0.25 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs750528871 22q11.22 22 22747724T> G null Y * 50 50 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs758308933 22q11.22 22 22747723A> G null Y C 50 50 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs752712735 22q11.22 22 22747722T> G null Y D 50 50 missense 0.974 probably damaging 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs758308933 22q11.22 22 22747723A> T null Y F 50 50 missense 0.324 benign 0.08 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs752712735 22q11.22 22 22747722T> A null Y N 50 50 missense 0.799 possibly damaging 0.07 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs575435566 22q11.22 22 22747726C> G null A G 51 51 2.0E-4 missense 0.647 possibly damaging 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC,gnomAD rs367578816 22q11.22 22 22747725G> T null A S 51 51 missense 0.337 benign 0.09 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC,gnomAD rs367578816 22q11.22 22 22747725G> A null A T 51 51 missense 0.062 benign 0.17 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs575435566 22q11.22 22 22747726C> T null A V 51 51 2.0E-4 missense 0.062 benign 1.0 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs777331151 22q11.22 22 22747729A> G null Y C 52 52 missense 0.033 benign 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs748664403 22q11.22 22 22747728T> G null Y D 52 52 missense 0.007 benign 0.15 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs777331151 22q11.22 22 22747729A> T null Y F 52 52 missense 0.02 benign 0.1 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs748664403 22q11.22 22 22747728T> C null Y H 52 52 missense 0.007 benign 1.0 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs777331151 22q11.22 22 22747729A> C null Y S 52 52 missense 0.014 benign 0.65 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs543620071 22q11.22 22 22747733G> A null W * 53 53 3.99E-4 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC rs371375875 22q11.22 22 22747732G> A null W * 53 53 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs543620071 22q11.22 22 22747733G> T null W C 53 53 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs543620071 22q11.22 22 22747733G> C null W C 53 53 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC rs371375875 22q11.22 22 22747732G> C null W S 53 53 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs529492618 22q11.22 22 22747736C> A null Y * 54 54 3.99E-4 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs529492618 22q11.22 22 22747736C> G null Y * 54 54 3.99E-4 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs186816034 22q11.22 22 22747735A> G null Y C 54 54 3.99E-4 missense 0.157 benign 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs186816034 22q11.22 22 22747735A> T null Y F 54 54 3.99E-4 missense 0.029 benign 0.1 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC rs762937196 22q11.22 22 22747734T> C null Y H 54 54 missense 0.109 benign 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC rs762937196 22q11.22 22 22747734T> A null Y N 54 54 missense 0.778 possibly damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,TOPMed,gnomAD rs543303825 22q11.22 22 22747739G> C null Q H 55 55 2.0E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,TOPMed,gnomAD rs543303825 22q11.22 22 22747739G> T null Q H 55 55 2.0E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs559659091 22q11.22 22 22747740C> T null Q * 56 56 2.0E-4 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs559659091 22q11.22 22 22747740C> A null Q K 56 56 2.0E-4 missense 0.287 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,gnomAD rs528426823 22q11.22 22 22747741A> T null Q L 56 56 2.0E-4 missense 0.964 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,gnomAD rs528426823 22q11.22 22 22747741A> C null Q P 56 56 2.0E-4 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs753067967 22q11.22 22 22747744A> T null K M 57 57 missense 0.98 probably damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC rs779320869 22q11.22 22 22747743A> C null K Q 57 57 missense 0.455 possibly damaging 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs753067967 22q11.22 22 22747744A> G null K R 57 57 missense 0.324 benign 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs753067967 22q11.22 22 22747744A> C null K T 57 57 missense 0.951 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,gnomAD rs374894992 22q11.22 22 22747746C> G null P A 58 58 2.0E-4 missense 0.048 benign 0.05 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,gnomAD rs374894992 22q11.22 22 22747746C> T null P S 58 58 2.0E-4 missense 0.115 benign 0.07 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs780722006 22q11.22 22 22747750G> A null G D 59 59 missense 0.397 benign 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1279113372 22q11.22 22 22747749G> A null G S 59 59 missense 0.411 benign 0.05 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1304846906 22q11.22 22 22747752C> T null Q * 60 60 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs745499430 22q11.22 22 22747754G> C null Q H 60 60 missense 0.954 probably damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs745499430 22q11.22 22 22747754G> T null Q H 60 60 missense 0.954 probably damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 Ensembl rs34826455 22q11.22 22 22747755_22747756delinsG C null F A 61 61 missense 0.0 benign 1.0 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11090181 22q11.22 22 22747756T> G null F C 61 61 0.0619 missense 0.005 benign 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1438752855 22q11.22 22 22747757C> G null F L 61 61 missense 0.0 benign 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11090181 22q11.22 22 22747756T> C null F S 61 61 0.0619 missense 0.0 benign 0.17 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11090180 22q11.22 22 22747755T> G null F V 61 61 0.0617 missense 0.0 benign 0.06 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11090181 22q11.22 22 22747756T> A null F Y 61 61 0.0619 missense 0.001 benign 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs191325224 22q11.22 22 22747761G> A null V M 63 63 3.99E-4 missense 0.173 benign 0.1 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs553194207 22q11.22 22 22747764C> A null L M 64 64 3.99E-4 missense 0.269 benign 0.06 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs765379655 22q11.22 22 22747765T> C null L P 64 64 missense 0.103 benign 0.03 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs553194207 22q11.22 22 22747764C> G null L V 64 64 3.99E-4 missense 0.166 benign 0.03 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC rs764544170 22q11.22 22 22747768T> G null V G 65 65 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs758711424 22q11.22 22 22747767G> C null V L 65 65 missense 0.073 benign 0.35 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs758711424 22q11.22 22 22747767G> A null V M 65 65 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs745451149 22q11.22 22 22747772A> G null I M 66 66 missense 0.701 possibly damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs757811095 22q11.22 22 22747771T> G null I R 66 66 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs757811095 22q11.22 22 22747771T> C null I T 66 66 missense 0.455 possibly damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs774332396 22q11.22 22 22747775T> A null Y * 67 67 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149984128 22q11.22 22 22747773T> G null Y D 67 67 0.003994 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149984128 22q11.22 22 22747773T> C null Y H 67 67 0.003994 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149984128 22q11.22 22 22747773T> A null Y N 67 67 0.003994 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs768299931 22q11.22 22 22747774A> C null Y S 67 67 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC,gnomAD rs61735118 22q11.22 22 22747776A> T null K * 68 68 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC,gnomAD rs61735118 22q11.22 22 22747776A> G null K E 68 68 missense 0.012 benign 0.84 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1439429720 22q11.22 22 22747778A> T null K N 68 68 missense 0.02 benign 0.39 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs752247264 22q11.22 22 22747783G> T null S I 70 70 missense 0.216 benign 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs752247264 22q11.22 22 22747783G> A null S N 70 70 missense 0.012 benign 0.39 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,NCI-TCGA,TOPMed,gnomAD rs752247264 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22747783G> C null S T 70 70 missense 0.012 benign 0.14 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,NCI-TCGA,TOPMed,gnomAD rs775615687 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22747785G> A null E K 71 71 missense 0.015 benign 0.75 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1299058189 22q11.22 22 22747789G> C null R T 72 72 missense 0.743 possibly damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1251907565 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22747798G> A null G E 75 75 missense 0.774 possibly damaging 0.03 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1466697952 22q11.22 22 22747800A> G null I V 76 76 missense 0.164 benign 0.3 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1358672243 22q11.22 22 22747806G> T null E * 78 78 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs544273706 22q11.22 22 22747807A> C null E A 78 78 2.0E-4 missense 0.145 benign 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368913881 22q11.22 22 22747809C> T null R * 79 79 3.99E-4 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368913881 22q11.22 22 22747809C> G null R G 79 79 3.99E-4 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,TOPMed,gnomAD rs574167589 22q11.22 22 22747810G> T null R L 79 79 2.0E-4 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs574167589 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22747810G> A null R Q 79 79 2.0E-4 missense 0.455 possibly damaging 0.03 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1463268661 22q11.22 22 22747812T> A null F I 80 80 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1179836535 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22747814C> A null F L 80 80 missense 0.529 possibly damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1165923218 22q11.22 22 22747815T> C null S P 81 81 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs779721269 22q11.22 22 22747822C> T null S F 83 83 missense 0.229 benign 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC,gnomAD rs373134606 22q11.22 22 22747824A> T null S C 84 84 missense 0.92 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs754694500 22q11.22 22 22747825G> A null S N 84 84 missense 0.018 benign 1.0 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1327492338 22q11.22 22 22747826C> G null S R 84 84 missense 0.07 benign 0.25 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs754694500 22q11.22 22 22747825G> C null S T 84 84 missense 0.031 benign 0.14 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs933485266 22q11.22 22 22747827T> C null S P 85 85 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1263403425 22q11.22 22 22747830G> A null G R 86 86 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs748026143 22q11.22 22 22747831G> T null G V 86 86 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC,TOPMed,gnomAD rs377447489 22q11.22 22 22747834C> T null T I 87 87 missense 0.793 possibly damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,TOPMed,gnomAD rs61735112 22q11.22 22 22747837T> A null I K 88 88 0.002396 missense 0.048 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,TOPMed,gnomAD rs61735112 22q11.22 22 22747837T> G null I R 88 88 0.002396 missense 0.067 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,TOPMed,gnomAD rs61735112 22q11.22 22 22747837T> C null I T 88 88 0.002396 missense 0.0 benign 1.0 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs775660407 22q11.22 22 22747836A> G null I V 88 88 missense 0.0 benign 0.03 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145232556 22q11.22 22 22747840T> A null V D 89 89 0.002796 missense 0.145 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 Ensembl rs61735113 22q11.22 22 22747839G> C null V L 89 89 missense 0.1 benign 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs774692213 22q11.22 22 22747842A> G null T A 90 90 missense 0.799 possibly damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1475376991 22q11.22 22 22747849C> T null T I 92 92 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs750930350 22q11.22 22 22747848A> C null T P 92 92 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1475376991 22q11.22 22 22747849C> G null T S 92 92 missense 0.976 probably damaging 0.04 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs761271451 22q11.22 22 22747851A> T null I F 93 93 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,NCI-TCGA,TOPMed,gnomAD rs761271451 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22747851A> G null I V 93 93 missense 0.118 benign 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1160412165 22q11.22 22 22747854A> T null S C 94 94 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1295358305 22q11.22 22 22747855G> C null S T 94 94 missense 0.145 benign 0.43 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs754676025 22q11.22 22 22747857G> T null G * 95 95 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs754676025 22q11.22 22 22747857G> A null G R 95 95 missense 0.324 benign 0.18 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,TOPMed,gnomAD rs564918263 22q11.22 22 22747861T> C null V A 96 96 0.0 missense 0.003 benign 1.0 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1377665727 22q11.22 22 22747864A> G null Q R 97 97 missense 0.027 benign 0.17 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1415725159 22q11.22 22 22747867C> A null A E 98 98 missense 0.061 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs746872843 22q11.22 22 22747870A> G null E G 99 99 missense 0.061 benign 0.16 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs193183787 22q11.22 22 22747874C> G null D E 100 100 5.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs551048551 22q11.22 22 22747873A> G null D G 100 100 2.0E-4 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1339332960 22q11.22 22 22747877G> T null E D 101 101 missense 0.962 probably damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1203323942 22q11.22 22 22747875G> A null E K 101 101 missense 0.545 possibly damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1213380904 22q11.22 22 22747878G> A null A T 102 102 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs7285911 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22747879C> T null A V 102 102 missense 0.942 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs774602435 22q11.22 22 22747882A> C null D A 103 103 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs762131783 22q11.22 22 22747883C> A null D E 103 103 missense 0.783 possibly damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs774602435 22q11.22 22 22747882A> G null D G 103 103 missense 0.983 probably damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs754783609 22q11.22 22 22747881G> A null D N 103 103 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs772383033 22q11.22 22 22747885A> G null Y C 104 104 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs772383033 22q11.22 22 22747885A> T null Y F 104 104 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs529851910 22q11.22 22 22747889C> G null Y * 105 105 5.99E-4 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs766980294 22q11.22 22 22747888A> T null Y F 105 105 missense 0.287 benign 0.05 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs773644127 22q11.22 22 22747887T> C null Y H 105 105 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs773644127 22q11.22 22 22747887T> A null Y N 105 105 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs766980294 22q11.22 22 22747888A> C null Y S 105 105 missense 0.533 possibly damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1469639587 22q11.22 22 22747891G> T null C F 106 106 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1469639587 22q11.22 22 22747891G> A null C Y 106 106 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149168687 22q11.22 22 22747894T> C null L P 107 107 0.01118 missense 0.383 benign 0.14 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149168687 22q11.22 22 22747894T> A null L Q 107 107 0.01118 missense 0.001 benign 1.0 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,NCI-TCGA,gnomAD rs566742180 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22747897C> T null S L 108 108 2.0E-4 missense 0.359 benign 0.14 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed rs1219970675 22q11.22 22 22747896T> C null S P 108 108 missense 0.103 benign 0.06 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs751373838 22q11.22 22 22747900C> G null A G 109 109 missense 0.003 benign 0.23 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs777373135 22q11.22 22 22747899G> C null A P 109 109 missense 0.007 benign 0.09 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs777373135 22q11.22 22 22747899G> A null A T 109 109 missense 0.003 benign 0.22 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs751373838 22q11.22 22 22747900C> T null A V 109 109 missense 0.005 benign 0.24 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 gnomAD rs1392842135 22q11.22 22 22747906G> A null S N 111 111 missense 0.02 benign 0.18 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs570112869 22q11.22 22 22747908A> G null S G 112 112 missense 0.031 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,TOPMed,gnomAD rs570112869 22q11.22 22 22747908A> C null S R 112 112 missense 0.596 possibly damaging 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2073913 22q11.22 22 22747912G> C null G A 113 113 0.05192 missense 0.019 benign 0.17 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs749346071 22q11.22 22 22747911G> T null G C 113 113 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2073913 22q11.22 22 22747912G> A null G D 113 113 0.05192 missense 0.047 benign 0.11 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs749346071 22q11.22 22 22747911G> A null G S 113 113 missense 0.08 benign 0.29 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ESP,ExAC rs371109944 22q11.22 22 22747914A> G null T A 114 114 2.0E-4 missense 0.0 benign 0.33 tolerated 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 1000Genomes,ExAC,gnomAD rs568868295 22q11.22 22 22747915C> T null T I 114 114 3.99E-4 missense 0.05 benign 0.02 deleterious 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 ExAC,gnomAD rs556145065 22q11.22 22 22747919T> A null Y * 115 115 stop gained 0 A0A075B6K0 IGLV3-16 Immunoglobulin lambda variable 3-16 TOPMed,gnomAD rs1474941123 22q11.22 22 22747918A> T null Y F 115 115 missense 0.049 benign 0.2 tolerated - low confidence 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1290122656 22q11.22 22 22771837C> G null A G 2 2 missense 0.621 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs570438028 22q11.22 22 22771836G> A null A T 2 2 2.0E-4 missense 0.257 benign 0.05 deleterious - low confidence 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1216942318 22q11.22 22 22771840G> A null W * 3 3 stop gained 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1356276344 22q11.22 22 22771839T> A null W R 3 3 missense 0.537 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs888750949 22q11.22 22 22771843C> T null T I 4 4 missense 0.145 benign 0.13 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs888750949 22q11.22 22 22771843C> A null T N 4 4 missense 0.866 possibly damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1183112628 22q11.22 22 22771845C> T null P S 5 5 missense 0.057 benign 0.03 deleterious - low confidence 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,TOPMed,gnomAD rs5996382 22q11.22 22 22771857A> G null S G 9 9 0.3914 missense 0.001 benign 0.55 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs9612148 22q11.22 22 22771858G> T null S I 9 9 missense 0.145 benign 0.1 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1157786694 22q11.22 22 22771861T> G null L R 10 10 missense 0.98 probably damaging 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1344854200 22q11.22 22 22771863C> T null L F 11 11 missense 0.343 benign 0.04 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs575874345 22q11.22 22 22771866G> A null A T 12 12 3.99E-4 missense 0.102 benign 0.58 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs761448564 22q11.22 22 22771867C> T null A V 12 12 missense 0.065 benign 0.08 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs963169586 22q11.22 22 22771869C> T null H Y 13 13 missense 0.012 benign 0.64 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs771736991 22q11.22 22 22771876C> G null T R 15 15 missense 0.341 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs539784302 22q11.22 22 22772282G> C null G A 16 16 2.0E-4 missense 0.397 benign 0.07 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs539784302 22q11.22 22 22772282G> A null G D 16 16 2.0E-4 missense 0.5 possibly damaging 0.05 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs1379623001 22q11.22 22 22771878G> A null G S 16 16 missense 0.678 possibly damaging 0.05 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs539784302 22q11.22 22 22772282G> T null G V 16 16 2.0E-4 missense 0.95 probably damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs776458177 22q11.22 22 22772288C> A null A E 18 18 missense 0.314 benign 0.05 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs776458177 22q11.22 22 22772288C> T null A V 18 18 missense 0.001 benign 1.0 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1279614091 22q11.22 22 22772290A> C null T P 19 19 missense 0.003 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1213962097 22q11.22 22 22772294C> T null S F 20 20 missense 0.968 probably damaging 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs775353036 22q11.22 22 22772297A> G null Y C 21 21 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs576030287 22q11.22 22 22772296T> G null Y D 21 21 2.0E-4 missense 0.979 probably damaging 0.12 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs576030287 22q11.22 22 22772296T> C null Y H 21 21 2.0E-4 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs775353036 22q11.22 22 22772297A> C null Y S 21 21 missense 0.729 possibly damaging 0.49 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,gnomAD rs541893995 22q11.22 22 22772301G> T null E D 22 22 2.0E-4 missense 0.019 benign 0.47 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes rs561863086 22q11.22 22 22772302C> G null L V 23 23 3.99E-4 missense 0.408 benign 0.04 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs1197524105 22q11.22 22 22772305A> G null T A 24 24 missense 0.847 possibly damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes rs572482740 22q11.22 22 22772306C> T null T I 24 24 2.0E-4 missense 0.56 possibly damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377585991 22q11.22 22 22772309A> G null Q R 25 25 7.99E-4 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,TOPMed,gnomAD rs564175633 22q11.22 22 22772312C> G null P R 26 26 2.0E-4 missense 0.312 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs750555832 22q11.22 22 22772314C> A null H N 27 27 missense 0.007 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,gnomAD rs533249808 22q11.22 22 22772315A> C null H P 27 27 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs933116362 22q11.22 22 22772316C> A null H Q 27 27 missense 0.011 benign 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs756334757 22q11.22 22 22772317T> G null S A 28 28 missense 0.301 benign 0.06 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 Ensembl rs878861613 22q11.22 22 22772320G> A null V M 29 29 missense 0.337 benign 0.04 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs755246860 22q11.22 22 22772323T> C null S P 30 30 missense 0.423 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs779433765 22q11.22 22 22772327T> C null V A 31 31 missense 0.246 benign 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs779433765 22q11.22 22 22772327T> G null V G 31 31 missense 0.246 benign 0.15 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1429449918 22q11.22 22 22772330C> G null A G 32 32 missense 0.03 benign 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1267845301 22q11.22 22 22772335G> A null A T 34 34 missense 0.005 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ESP,ExAC,TOPMed,gnomAD rs370750354 22q11.22 22 22772336C> T null A V 34 34 missense 0.009 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1228819013 22q11.22 22 22772340G> C null Q H 35 35 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs746543743 22q11.22 22 22772343G> A null M I 36 36 missense 0.063 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ESP,ExAC,TOPMed,gnomAD rs375606432 22q11.22 22 22772341A> T null M L 36 36 missense 0.015 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ESP,ExAC,TOPMed,gnomAD rs375606432 22q11.22 22 22772341A> C null M L 36 36 missense 0.015 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs770507664 22q11.22 22 22772345C> T null A V 37 37 missense 0.338 benign 0.24 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs776102124 22q11.22 22 22772349G> T null R S 38 38 missense 0.031 benign 0.25 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs769516788 22q11.22 22 22772350A> T null I F 39 39 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs769516788 22q11.22 22 22772350A> C null I L 39 39 missense 0.068 benign 0.21 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs769516788 22q11.22 22 22772350A> G null I V 39 39 missense 0.068 benign 0.09 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs775334634 22q11.22 22 22772357G> C null C S 41 41 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs549817731 22q11.22 22 22772360G> C null G A 42 42 2.0E-4 missense 0.47 possibly damaging 0.16 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs762861160 22q11.22 22 22772359G> C null G R 42 42 missense 0.097 benign 0.14 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs762861160 22q11.22 22 22772359G> T null G W 42 42 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs563229924 22q11.22 22 22772363G> A null G E 43 43 3.99E-4 missense 0.529 possibly damaging 0.04 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs563229924 22q11.22 22 22772363G> T null G V 43 43 3.99E-4 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs755233378 22q11.22 22 22772365A> C null N H 44 44 missense 0.171 benign 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs1385244845 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22772366A> T null N I 44 44 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1399695625 22q11.22 22 22772367C> A null N K 44 44 missense 0.199 benign 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs755233378 22q11.22 22 22772365A> T null N Y 44 44 missense 0.853 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1315697785 22q11.22 22 22772368A> G null N D 45 45 missense 0.042 benign 0.05 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs753163211 22q11.22 22 22772371A> C null I L 46 46 missense 0.166 benign 0.41 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs528910479 22q11.22 22 22772372T> C null I T 46 46 2.0E-4 missense 0.51 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs778386245 22q11.22 22 22772374G> A null G R 47 47 missense 0.708 possibly damaging 0.04 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs778386245 22q11.22 22 22772374G> C null G R 47 47 missense 0.708 possibly damaging 0.04 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs747577011 22q11.22 22 22772375G> T null G V 47 47 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs549031759 22q11.22 22 22772377A> G null S G 48 48 2.0E-4 missense 0.011 benign 0.29 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs565756589 22q11.22 22 22772378G> A null S N 48 48 7.99E-4 missense 0.011 benign 0.21 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 Ensembl rs1569000236 22q11.22 22 22772379T> G null S R 48 48 missense 0.019 benign 0.22 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs565756589 22q11.22 22 22772378G> C null S T 48 48 7.99E-4 missense 0.076 benign 0.1 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 Ensembl rs1569000240 22q11.22 22 22772379_22772380insTGAGCTGTGCACTGGTACCAG C null K * 49 49 stop gained 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,gnomAD rs372791640 22q11.22 22 22772384C> G null A G 50 50 2.0E-4 missense 0.003 benign 0.13 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs769490347 22q11.22 22 22772383G> C null A P 50 50 missense 0.22 benign 0.06 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs769490347 22q11.22 22 22772383G> A null A T 50 50 missense 0.015 benign 0.12 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,gnomAD rs372791640 22q11.22 22 22772384C> T null A V 50 50 2.0E-4 missense 0.003 benign 0.18 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs570966275 22q11.22 22 22772387T> A null V E 51 51 2.0E-4 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs943341708 22q11.22 22 22772386G> A null V M 51 51 missense 0.711 possibly damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs556460480 22q11.22 22 22772391C> G null H Q 52 52 2.0E-4 missense 0.013 benign 0.52 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,TOPMed,gnomAD rs540076594 22q11.22 22 22772390A> G null H R 52 52 2.0E-4 missense 0.37 benign 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs765597564 22q11.22 22 22772393G> A null W * 53 53 stop gained 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs765597564 22q11.22 22 22772393G> T null W L 53 53 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs575995907 22q11.22 22 22772392T> C null W R 53 53 2.0E-4 missense 0.808 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs575995907 22q11.22 22 22772392T> A null W R 53 53 2.0E-4 missense 0.808 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs763362591 22q11.22 22 22772396A> G null Y C 54 54 missense 0.61 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs763362591 22q11.22 22 22772396A> T null Y F 54 54 missense 0.308 benign 0.07 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs535441693 22q11.22 22 22772395T> A null Y N 54 54 2.0E-4 missense 0.404 benign 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1403835330 22q11.22 22 22772400G> T null Q H 55 55 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs764569046 22q11.22 22 22772399A> T null Q L 55 55 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,TOPMed,gnomAD rs555370453 22q11.22 22 22772401C> T null Q * 56 56 2.0E-4 stop gained 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,TOPMed,gnomAD rs555370453 22q11.22 22 22772401C> G null Q E 56 56 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs757853323 22q11.22 22 22772402A> T null Q L 56 56 missense 0.535 possibly damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs757853323 22q11.22 22 22772402A> G null Q R 56 56 missense 0.667 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC rs749995061 22q11.22 22 22772405A> T null K M 57 57 missense 0.592 possibly damaging 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed rs1291435251 22q11.22 22 22772406G> C null K N 57 57 missense 0.229 benign 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1238662871 22q11.22 22 22772413C> T null Q * 60 60 stop gained 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ESP,ExAC,TOPMed,gnomAD rs374612187 22q11.22 22 22772415G> C null Q H 60 60 missense 0.137 benign 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs779639734 22q11.22 22 22772414A> T null Q L 60 60 missense 0.089 benign 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs572501764 22q11.22 22 22772417A> C null D A 61 61 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1224225937 22q11.22 22 22772416G> A null D N 61 61 missense 0.04 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ESP,ExAC,TOPMed,gnomAD rs367579203 22q11.22 22 22772420C> T null P L 62 62 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1460372405 22q11.22 22 22772419C> T null P S 62 62 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ESP,ExAC,TOPMed,gnomAD rs371456730 22q11.22 22 22772423T> C null V A 63 63 missense 0.102 benign 0.1 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1465168917 22q11.22 22 22772422G> C null V L 63 63 missense 0.061 benign 0.17 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1379030525 22q11.22 22 22772426T> G null L R 64 64 missense 0.926 probably damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1180060604 22q11.22 22 22772425C> G null L V 64 64 missense 0.861 possibly damaging 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,NCI-TCGA,gnomAD rs541210258 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22772431A> T null I F 66 66 2.0E-4 missense 0.889 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1175094488 22q11.22 22 22772432T> C null I T 66 66 missense 0.387 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs557895030 22q11.22 22 22772436T> A null Y * 67 67 2.0E-4 stop gained 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs759650350 22q11.22 22 22772435A> G null Y C 67 67 missense 0.312 benign 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs759650350 22q11.22 22 22772435A> T null Y F 67 67 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs1395555937 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22772438G> A null S N 68 68 missense 0.0 benign 0.52 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs763276047 22q11.22 22 22772439C> A null S R 68 68 missense 0.003 benign 0.52 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs577766820 22q11.22 22 22772437A> C null S R 68 68 2.0E-4 missense 0.003 benign 0.52 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs752023830 22q11.22 22 22772442T> G null D E 69 69 missense 0.282 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374794587 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22772440G> A null D N 69 69 2.0E-4 missense 0.048 benign 0.17 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs563556909 22q11.22 22 22772444G> T null S I 70 70 5.99E-4 missense 0.116 benign 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs563556909 22q11.22 22 22772444G> A null S N 70 70 5.99E-4 missense 0.018 benign 0.37 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2073450 22q11.22 22 22772445C> G null S R 70 70 0.1126 missense 0.074 benign 0.04 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2073450 22q11.22 22 22772445C> A null S R 70 70 0.1126 missense 0.074 benign 0.04 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs563556909 22q11.22 22 22772444G> C null S T 70 70 5.99E-4 missense 0.074 benign 0.1 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,TOPMed,gnomAD rs376841071 22q11.22 22 22772446A> G null N D 71 71 2.0E-4 missense 0.005 benign 0.3 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,TOPMed,gnomAD rs376841071 22q11.22 22 22772446A> C null N H 71 71 2.0E-4 missense 0.454 possibly damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs559125368 22q11.22 22 22772448C> G null N K 71 71 2.0E-4 missense 0.005 benign 0.73 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs753420976 22q11.22 22 22772447A> G null N S 71 71 missense 0.009 benign 0.45 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,NCI-TCGA,TOPMed,gnomAD rs748016516 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22772450G> A null R Q 72 72 missense 0.488 possibly damaging 0.04 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs778559176 22q11.22 22 22772449C> T null R W 72 72 missense 0.511 possibly damaging 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs777718628 22q11.22 22 22772453C> T null P L 73 73 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs758159592 22q11.22 22 22772452C> T null P S 73 73 missense 0.846 possibly damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs769930814 22q11.22 22 22772456C> A null S * 74 74 stop gained 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 Ensembl rs568630578 22q11.22 22 22772458G> A null G R 75 75 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371743145 22q11.22 22 22772468A> C null E A 78 78 7.99E-4 missense 0.47 possibly damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371743145 22q11.22 22 22772468A> G null E G 78 78 7.99E-4 missense 0.554 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371079017 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.22 22 22772470C> T null R * 79 79 3.99E-4 stop gained 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs774544303 22q11.22 22 22772471G> C null R P 79 79 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs774544303 22q11.22 22 22772471G> A null R Q 79 79 missense 0.411 benign 0.05 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs762194749 22q11.22 22 22772475C> A null F L 80 80 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs762194749 22q11.22 22 22772475C> G null F L 80 80 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 Ensembl rs531275678 22q11.22 22 22772474T> A null F Y 80 80 missense 0.774 possibly damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 Ensembl rs374698961 22q11.22 22 22772485A> C null N H 84 84 missense 0.917 probably damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1425593609 22q11.22 22 22772486A> G null N S 84 84 missense 0.174 benign 0.31 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1425593609 22q11.22 22 22772486A> C null N T 84 84 missense 0.158 benign 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs1343835512 22q11.22 22 22772489C> G null P R 85 85 missense 0.063 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,TOPMed,gnomAD rs570995630 22q11.22 22 22772488C> T null P S 85 85 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,TOPMed,gnomAD rs570995630 22q11.22 22 22772488C> A null P T 85 85 2.0E-4 missense 0.015 benign 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs765868388 22q11.22 22 22772491G> A null G R 86 86 missense 0.705 possibly damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1277460393 22q11.22 22 22772494A> G null N D 87 87 missense 0.397 benign 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ESP,ExAC,gnomAD rs369605720 22q11.22 22 22772495A> G null N S 87 87 missense 0.678 possibly damaging 0.07 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ESP,ExAC,gnomAD rs369605720 22q11.22 22 22772495A> C null N T 87 87 missense 0.533 possibly damaging 0.14 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs752315741 22q11.22 22 22772498C> A null T N 88 88 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs752315741 22q11.22 22 22772498C> G null T S 88 88 missense 0.678 possibly damaging 0.15 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2073451 22q11.22 22 22772500G> A null A T 89 89 0.3908 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1289181959 22q11.22 22 22772503A> G null T A 90 90 missense 0.774 possibly damaging 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1211895010 22q11.22 22 22772504C> T null T I 90 90 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC rs757324767 22q11.22 22 22772507T> G null L R 91 91 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 Ensembl rs1569000451 22q11.22 22 22772510C> G null T S 92 92 missense 0.341 benign 0.03 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs774580579 22q11.22 22 22772515A> G null S G 94 94 missense 0.168 benign 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1426729035 22q11.22 22 22772516G> C null S T 94 94 missense 0.177 benign 0.32 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC rs772412768 22q11.22 22 22772519G> C null R T 95 95 missense 0.063 benign 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs773632394 22q11.22 22 22772521A> T null I F 96 96 missense 0.009 benign 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs773632394 22q11.22 22 22772521A> G null I V 96 96 missense 0.0 benign 0.69 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs777153945 22q11.22 22 22772524G> A null E K 97 97 missense 0.039 benign 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC rs759039232 22q11.22 22 22772527G> A null A T 98 98 missense 0.24 benign 0.08 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1363960921 22q11.22 22 22772531G> T null G V 99 99 missense 0.652 possibly damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs555333975 22q11.22 22 22772534A> C null D A 100 100 2.0E-4 missense 0.805 possibly damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ExAC,gnomAD rs555333975 22q11.22 22 22772534A> G null D G 100 100 2.0E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1289590638 22q11.22 22 22772538G> C null E D 101 101 missense 0.529 possibly damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed rs763971880 22q11.22 22 22772539G> T null A S 102 102 missense 0.783 possibly damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1381068740 22q11.22 22 22772540C> T null A V 102 102 missense 0.749 possibly damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs751452694 22q11.22 22 22772544C> G null D E 103 103 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1384132589 22q11.22 22 22772543A> G null D G 103 103 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs1317736844 22q11.22 22 22772542G> C null D H 103 103 missense 0.873 possibly damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs1317736844 22q11.22 22 22772542G> T null D Y 103 103 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs757234888 22q11.22 22 22772546A> G null Y C 104 104 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs757234888 22q11.22 22 22772546A> C null Y S 104 104 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs750405466 22q11.22 22 22772550C> G null Y * 105 105 stop gained 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs781232075 22q11.22 22 22772549A> C null Y S 105 105 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed rs920507827 22q11.22 22 22772551T> C null C R 106 106 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes rs565950583 22q11.22 22 22772552G> C null C S 106 106 2.0E-4 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed rs1426904146 22q11.22 22 22772558T> C null V A 108 108 missense 0.031 benign 0.37 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs755024961 22q11.22 22 22772557G> C null V L 108 108 missense 0.031 benign 0.19 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,TOPMed,gnomAD rs755024961 22q11.22 22 22772557G> A null V M 108 108 missense 0.199 benign 0.13 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1201635140 22q11.22 22 22772563G> T null D Y 110 110 missense 0.296 benign 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190626294 22q11.22 22 22772566A> G null S G 111 111 5.99E-4 missense 0.012 benign 0.19 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs772240450 22q11.22 22 22772567G> A null S N 111 111 missense 0.012 benign 0.15 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1381936292 22q11.22 22 22772568T> G null S R 111 111 missense 0.048 benign 0.05 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377453574 22q11.22 22 22772569A> T null S C 112 112 2.0E-4 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377453574 22q11.22 22 22772569A> G null S G 112 112 2.0E-4 missense 0.027 benign 0.07 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs1160077410 22q11.22 22 22772572A> T null S C 113 113 missense 0.761 possibly damaging 0.01 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 TOPMed,gnomAD rs1160077410 22q11.22 22 22772572A> G null S G 113 113 missense 0.013 benign 0.28 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs771308006 22q11.22 22 22772573G> T null S I 113 113 missense 0.258 benign 0.02 deleterious 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 ExAC,gnomAD rs771308006 22q11.22 22 22772573G> A null S N 113 113 missense 0.013 benign 0.31 tolerated 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 Ensembl rs1569000546 22q11.22 22 22772578C> G null H D 115 115 missense 0.288 benign 0.01 deleterious - low confidence 0 A0A075B6K2 IGLV3-12 Immunoglobulin lambda variable 3-12 gnomAD rs1451757768 22q11.22 22 22772579_22772580insGGGACCAAGCTGACCGTCCTAGGTGAGTCTC T null H Q 115 115 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1424611079 22q11.22 22 22811790G> C null W C 3 3 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed rs1284546967 22q11.22 22 22811795C> G null P R 5 5 missense 0.613 possibly damaging 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs756236773 22q11.22 22 22811794C> T null P S 5 5 missense 0.103 benign 0.05 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1435087737 22q11.22 22 22811797C> T null L F 6 6 missense 0.251 benign 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1358476841 22q11.22 22 22811801T> G null L R 7 7 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed rs1299596679 22q11.22 22 22811804T> C null L P 8 8 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs1388491452 22q11.22 22 22811806C> G null P A 9 9 missense 0.969 probably damaging 0.38 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs1388491452 22q11.22 22 22811806C> T null P S 9 9 missense 0.985 probably damaging 0.62 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs780078425 22q11.22 22 22811809C> A null L I 10 10 missense 0.041 benign 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs1289474115 22q11.22 22 22811810T> C null L P 10 10 missense 0.94 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs1289474115 22q11.22 22 22811810T> G null L R 10 10 missense 0.887 possibly damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1379523183 22q11.22 22 22811812C> T null L F 11 11 missense 0.182 benign 0.07 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed rs1399446206 22q11.22 22 22811816C> T null T I 12 12 missense 0.024 benign 0.08 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed rs1164233711 22q11.22 22 22811819T> G null F C 13 13 missense 0.615 possibly damaging 0.09 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs749526916 22q11.22 22 22811827G> A null V I 16 16 missense 0.093 benign 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1274061561 22q11.22 22 22811984C> G null S C 17 17 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC rs555854869 22q11.22 22 22811987A> C null E A 18 18 2.0E-4 missense 0.0 benign 0.19 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs757818862 22q11.22 22 22811990C> A null A D 19 19 missense 0.696 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs757818862 22q11.22 22 22811990C> T null A V 19 19 missense 0.047 benign 0.12 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs745322325 22q11.22 22 22811993C> T null S F 20 20 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC rs781771430 22q11.22 22 22811992T> C null S P 20 20 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC rs781771430 22q11.22 22 22811992T> A null S T 20 20 missense 0.255 benign 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs572588135 22q11.22 22 22811995T> G null Y D 21 21 3.99E-4 missense 0.751 possibly damaging 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs375929086 22q11.22 22 22811996A> T null Y F 21 21 3.99E-4 missense 0.923 probably damaging 0.09 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,NCI-TCGA,gnomAD rs572588135 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22811995T> C null Y H 21 21 3.99E-4 missense 0.922 probably damaging 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs375929086 22q11.22 22 22811996A> C null Y S 21 21 3.99E-4 missense 0.062 benign 0.4 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs528904124 22q11.22 22 22812000G> T null E D 22 22 missense 0.045 benign 0.42 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs528904124 22q11.22 22 22812000G> C null E D 22 22 missense 0.045 benign 0.42 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1449743190 22q11.22 22 22811998G> A null E K 22 22 missense 0.066 benign 0.61 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1167610496 22q11.22 22 22811999A> T null E V 22 22 missense 0.046 benign 0.47 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs761625725 22q11.22 22 22812004A> G null T A 24 24 missense 0.625 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed rs1306596858 22q11.22 22 22812007C> T null Q * 25 25 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs376634559 22q11.22 22 22812010C> G null P A 26 26 missense 0.29 benign 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs765309245 22q11.22 22 22812011C> T null P L 26 26 missense 0.03 benign 0.06 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs376634559 22q11.22 22 22812010C> T null P S 26 26 missense 0.031 benign 0.06 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs751908029 22q11.22 22 22812017C> T null S L 28 28 missense 0.109 benign 0.05 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs764331086 22q11.22 22 22812016T> C null S P 28 28 missense 0.229 benign 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1212333488 22q11.22 22 22812020T> C null V A 29 29 missense 0.046 benign 0.05 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs374290391 22q11.22 22 22812019G> A null V M 29 29 2.0E-4 missense 0.269 benign 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1240011835 22q11.22 22 22812026T> C null V A 31 31 missense 0.97 probably damaging 0.08 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1240011835 22q11.22 22 22812026T> A null V E 31 31 missense 0.774 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs748872037 22q11.22 22 22812025G> A null V M 31 31 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs768395593 22q11.22 22 22812028T> C null S P 32 32 missense 0.793 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs778462828 22q11.22 22 22812032C> T null P L 33 33 missense 0.003 benign 1.0 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs1454551215 22q11.22 22 22812035G> A null G E 34 34 missense 0.227 benign 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1412412396 22q11.22 22 22812034G> A null G R 34 34 missense 0.932 probably damaging 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1161321761 22q11.22 22 22812037C> T null Q * 35 35 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs747019213 22q11.22 22 22812039A> C null Q H 35 35 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs747019213 22q11.22 22 22812039A> T null Q H 35 35 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs773070160 22q11.22 22 22812038A> T null Q L 35 35 missense 0.854 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs773070160 22q11.22 22 22812038A> C null Q P 35 35 missense 0.924 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs528813341 22q11.22 22 22812040A> G null T A 36 36 2.0E-4 missense 0.503 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376476919 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22812041C> T null T M 36 36 missense 0.194 benign 0.08 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs542225944 22q11.22 22 22812043G> A null A T 37 37 2.0E-4 missense 0.901 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs558992257 22q11.22 22 22812047G> C null R T 38 38 3.99E-4 missense 0.003 benign 0.75 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs750950832 22q11.22 22 22812049A> T null I F 39 39 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs750950832 22q11.22 22 22812049A> G null I V 39 39 missense 0.175 benign 0.06 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs182282578 22q11.22 22 22812052A> G null T A 40 40 missense 0.227 benign 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371096709 22q11.22 22 22812053C> T null T I 40 40 3.99E-4 missense 0.455 possibly damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371096709 22q11.22 22 22812053C> A null T N 40 40 3.99E-4 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs182282578 22q11.22 22 22812052A> C null T P 40 40 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371096709 22q11.22 22 22812053C> G null T S 40 40 3.99E-4 missense 0.338 benign 0.15 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs777605111 22q11.22 22 22812055T> C null C R 41 41 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs746915452 22q11.22 22 22812056G> C null C S 41 41 missense 0.259 benign 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs770811579 22q11.22 22 22812057C> G null C W 41 41 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs746915452 22q11.22 22 22812056G> A null C Y 41 41 missense 0.886 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs571012160 22q11.22 22 22812059C> G null S C 42 42 2.0E-4 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs571012160 22q11.22 22 22812059C> T null S F 42 42 2.0E-4 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,NCI-TCGA,gnomAD rs774627600 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22812061G> A null G R 43 43 missense 0.906 possibly damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs767969712 22q11.22 22 22812065A> G null D G 44 44 missense 0.793 possibly damaging 0.07 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs550400676 22q11.22 22 22812064G> C null D H 44 44 2.0E-4 missense 0.496 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs550400676 22q11.22 22 22812064G> A null D N 44 44 2.0E-4 missense 0.168 benign 0.48 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs370496852 22q11.22 22 22812068C> A null A E 45 45 missense 0.005 benign 0.43 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs370496852 22q11.22 22 22812068C> G null A G 45 45 missense 0.102 benign 0.2 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs1065463 22q11.22 22 22812067G> T null A S 45 45 7.99E-4 missense 0.009 benign 0.72 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs1065463 22q11.22 22 22812067G> A null A T 45 45 7.99E-4 missense 0.005 benign 0.24 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs370496852 22q11.22 22 22812068C> T null A V 45 45 missense 0.001 benign 0.24 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs539851885 22q11.22 22 22812071T> A null L * 46 46 7.99E-4 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs551582710 22q11.22 22 22812072G> T null L F 46 46 missense 0.991 probably damaging 0.14 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs539851885 22q11.22 22 22812071T> C null L S 46 46 7.99E-4 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs539851885 22q11.22 22 22812071T> G null L W 46 46 7.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs192547759 22q11.22 22 22812073C> G null P A 47 47 5.99E-4 missense 0.005 benign 0.12 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs192547759 22q11.22 22 22812073C> T null P S 47 47 5.99E-4 missense 0.003 benign 0.18 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs192547759 22q11.22 22 22812073C> A null P T 47 47 5.99E-4 missense 0.102 benign 0.05 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs781116398 22q11.22 22 22812076A> T null K * 48 48 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs781116398 22q11.22 22 22812076A> G null K E 48 48 missense 0.011 benign 0.46 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs745859511 22q11.22 22 22812077A> T null K I 48 48 missense 0.657 possibly damaging 0.12 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs571206599 22q11.22 22 22812078A> T null K N 48 48 5.99E-4 missense 0.019 benign 0.41 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs781116398 22q11.22 22 22812076A> C null K Q 48 48 missense 0.473 possibly damaging 0.21 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs745859511 22q11.22 22 22812077A> G null K R 48 48 missense 0.352 benign 0.34 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs368192087 22q11.22 22 22812079A> G null K E 49 49 missense 0.013 benign 0.31 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs533876233 22q11.22 22 22812080A> T null K I 49 49 5.99E-4 missense 0.019 benign 0.06 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs41277277 22q11.22 22 22812081A> T null K N 49 49 missense 0.007 benign 0.28 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs41277277 22q11.22 22 22812081A> C null K N 49 49 missense 0.007 benign 0.28 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs368192087 22q11.22 22 22812079A> C null K Q 49 49 missense 0.022 benign 0.18 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs533876233 22q11.22 22 22812080A> G null K R 49 49 5.99E-4 missense 0.007 benign 0.23 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs533876233 22q11.22 22 22812080A> C null K T 49 49 5.99E-4 missense 0.204 benign 0.17 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs372456912 22q11.22 22 22812084T> G null Y * 50 50 2.0E-4 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs183865794 22q11.22 22 22812083A> G null Y C 50 50 3.99E-4 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs183865794 22q11.22 22 22812083A> T null Y F 50 50 3.99E-4 missense 0.324 benign 0.09 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs764785172 22q11.22 22 22812082T> C null Y H 50 50 missense 0.987 probably damaging 0.06 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 NCI-TCGA rs776773283 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.22 22 22812074_22812075ins A null Y I 50 50 frameshift 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs764785172 22q11.22 22 22812082T> A null Y N 50 50 missense 0.722 possibly damaging 0.07 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs183865794 22q11.22 22 22812083A> C null Y S 50 50 3.99E-4 missense 0.974 probably damaging 0.19 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs188439978 22q11.22 22 22812086C> A null A D 51 51 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs188439978 22q11.22 22 22812086C> G null A G 51 51 missense 0.774 possibly damaging 0.06 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1065464 22q11.22 22 22812085G> C null A P 51 51 0.03894 missense 0.958 probably damaging 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1065464 22q11.22 22 22812085G> A null A T 51 51 0.03894 missense 0.112 benign 0.23 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs188439978 22q11.22 22 22812086C> T null A V 51 51 missense 0.24 benign 1.0 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs556348163 22q11.22 22 22812090T> A null Y * 52 52 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs372909537 22q11.22 22 22812089A> G null Y C 52 52 2.0E-4 missense 0.659 possibly damaging 0.05 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs778075671 22q11.22 22 22812088T> G null Y D 52 52 missense 0.003 benign 0.16 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs372909537 22q11.22 22 22812089A> T null Y F 52 52 2.0E-4 missense 0.013 benign 0.07 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs778075671 22q11.22 22 22812088T> C null Y H 52 52 missense 0.003 benign 1.0 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs778075671 22q11.22 22 22812088T> A null Y N 52 52 missense 0.003 benign 0.31 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs372909537 22q11.22 22 22812089A> C null Y S 52 52 2.0E-4 missense 0.005 benign 0.54 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs368412336 22q11.22 22 22812093G> A null W * 53 53 9.98E-4 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,NCI-TCGA,gnomAD rs368412336 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22812093G> T null W C 53 53 9.98E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,NCI-TCGA,gnomAD rs368412336 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22812093G> C null W C 53 53 9.98E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs775986903 22q11.22 22 22812091T> G null W G 53 53 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,NCI-TCGA,TOPMed,gnomAD rs762379155 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22812092G> T null W L 53 53 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs762379155 22q11.22 22 22812092G> C null W S 53 53 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs570336271 22q11.22 22 22812096C> G null Y * 54 54 2.0E-4 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs184893196 22q11.22 22 22812095A> G null Y C 54 54 5.99E-4 missense 0.038 benign 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs184893196 22q11.22 22 22812095A> T null Y F 54 54 5.99E-4 missense 0.009 benign 0.1 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs576513968 22q11.22 22 22812094T> A null Y N 54 54 missense 0.527 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs184893196 22q11.22 22 22812095A> C null Y S 54 54 5.99E-4 missense 0.589 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs758551833 22q11.22 22 22812097C> T null Q * 55 55 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs758551833 22q11.22 22 22812097C> A null Q K 55 55 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs545249554 22q11.22 22 22812098A> T null Q L 55 55 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs545249554 22q11.22 22 22812098A> G null Q R 55 55 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs781496039 22q11.22 22 22812100C> T null Q * 56 56 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs572766318 22q11.22 22 22812102G> C null Q H 56 56 missense 0.606 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs781496039 22q11.22 22 22812100C> A null Q K 56 56 missense 0.455 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs565524256 22q11.22 22 22812101A> T null Q L 56 56 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs565524256 22q11.22 22 22812101A> C null Q P 56 56 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs565524256 22q11.22 22 22812101A> G null Q R 56 56 missense 0.901 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs549731226 22q11.22 22 22812103A> C null K Q 57 57 2.0E-4 missense 0.606 possibly damaging 0.05 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs41277279 22q11.22 22 22812104A> G null K R 57 57 missense 0.901 possibly damaging 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 Ensembl rs541702916 22q11.22 22 22812106T> G null S A 58 58 missense 0.0 benign 0.07 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs773889885 22q11.22 22 22812107C> T null S L 58 58 missense 0.039 benign 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs761416395 22q11.22 22 22812110G> A null G D 59 59 missense 0.227 benign 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs761416395 22q11.22 22 22812110G> T null G V 59 59 missense 0.964 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs767029889 22q11.22 22 22812112C> T null Q * 60 60 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1379532863 22q11.22 22 22812114G> C null Q H 60 60 missense 0.942 probably damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs772932562 22q11.22 22 22812113A> C null Q P 60 60 missense 0.924 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs772932562 22q11.22 22 22812113A> G null Q R 60 60 missense 0.061 benign 0.06 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 Ensembl rs1569024402 22q11.22 22 22812115G> A null A T 61 61 missense 0.007 benign 0.11 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1393599259 22q11.22 22 22812116C> T null A V 61 61 missense 0.014 benign 0.06 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs534756541 22q11.22 22 22812121G> C null V L 63 63 3.99E-4 missense 0.019 benign 0.17 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs534756541 22q11.22 22 22812121G> T null V L 63 63 3.99E-4 missense 0.019 benign 0.17 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs534756541 22q11.22 22 22812121G> A null V M 63 63 3.99E-4 missense 0.199 benign 0.1 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs113437248 22q11.22 22 22812124C> A null L M 64 64 9.98E-4 missense 0.194 benign 0.05 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1297894648 22q11.22 22 22812125T> C null L P 64 64 missense 0.07 benign 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs113437248 22q11.22 22 22812124C> G null L V 64 64 9.98E-4 missense 0.074 benign 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs780444428 22q11.22 22 22812127G> A null V I 65 65 missense 0.021 benign 0.39 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs537216191 22q11.22 22 22812132C> G null I M 66 66 2.0E-4 missense 0.592 possibly damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs1357021327 22q11.22 22 22812131T> A null I N 66 66 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs1357021327 22q11.22 22 22812131T> C null I T 66 66 missense 0.341 benign 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs543571559 22q11.22 22 22812130A> G null I V 66 66 missense 0.281 benign 0.05 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs556762123 22q11.22 22 22812134A> G null Y C 67 67 5.99E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs556762123 22q11.22 22 22812134A> T null Y F 67 67 5.99E-4 missense 0.397 benign 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs1036789321 22q11.22 22 22812133T> C null Y H 67 67 missense 0.985 probably damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs556762123 22q11.22 22 22812134A> C null Y S 67 67 5.99E-4 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs548999943 22q11.22 22 22812138G> C null E D 68 68 missense 0.003 benign 0.6 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1248888930 22q11.22 22 22812136G> A null E K 68 68 missense 0.001 benign 1.0 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1428139285 22q11.22 22 22812137A> T null E V 68 68 missense 0.111 benign 0.13 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC rs765204847 22q11.22 22 22812140A> C null D A 69 69 missense 0.85 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs752682022 22q11.22 22 22812141C> G null D E 69 69 missense 0.777 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs757275104 22q11.22 22 22812142A> G null S G 70 70 missense 0.223 benign 0.06 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41277281 22q11.22 22 22812143G> T null S I 70 70 5.99E-4 missense 0.158 benign 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs41277281 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22812143G> A null S N 70 70 5.99E-4 missense 0.007 benign 0.35 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs536127838 22q11.22 22 22812144C> G null S R 70 70 5.99E-4 missense 0.397 benign 0.05 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs536127838 22q11.22 22 22812144C> A null S R 70 70 5.99E-4 missense 0.397 benign 0.05 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41277281 22q11.22 22 22812143G> C null S T 70 70 5.99E-4 missense 0.007 benign 0.16 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs552892053 22q11.22 22 22812145A> T null K * 71 71 5.99E-4 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs552892053 22q11.22 22 22812145A> G null K E 71 71 5.99E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs748756674 22q11.22 22 22812146A> T null K I 71 71 missense 0.537 possibly damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs771470207 22q11.22 22 22812147A> T null K N 71 71 missense 0.158 benign 0.92 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs748756674 22q11.22 22 22812146A> G null K R 71 71 missense 0.158 benign 0.1 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,NCI-TCGA,TOPMed,gnomAD rs41277283 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.22 22 22812148C> T null R * 72 72 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs41277283 22q11.22 22 22812148C> G null R G 72 72 missense 0.706 possibly damaging 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs141938356 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22812149G> C null R P 72 72 0.001997 missense 0.834 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141938356 22q11.22 22 22812149G> A null R Q 72 72 0.001997 missense 0.114 benign 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1340587911 22q11.22 22 22812151C> A null P T 73 73 missense 0.951 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC rs769775770 22q11.22 22 22812155C> T null S F 74 74 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs544686391 22q11.22 22 22812154T> C null S P 74 74 2.0E-4 missense 0.229 benign 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs575263147 22q11.22 22 22812158G> A null G E 75 75 2.0E-4 missense 0.774 possibly damaging 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,TOPMed,gnomAD rs369446978 22q11.22 22 22812157G> C null G R 75 75 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,TOPMed,gnomAD rs369446978 22q11.22 22 22812157G> A null G R 75 75 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1203583952 22q11.22 22 22812160A> T null I F 76 76 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,TOPMed,gnomAD rs188537134 22q11.22 22 22812162C> G null I M 76 76 3.99E-4 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1443087714 22q11.22 22 22812163C> G null P A 77 77 missense 0.711 possibly damaging 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs529551711 22q11.22 22 22812164C> T null P L 77 77 2.0E-4 missense 0.154 benign 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs373061209 22q11.22 22 22812167A> C null E A 78 78 missense 0.102 benign 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,NCI-TCGA rs531483201 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22812166G> A null E K 78 78 missense 0.567 possibly damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC rs531483201 22q11.22 22 22812166G> C null E Q 78 78 missense 0.237 benign 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs373061209 22q11.22 22 22812167A> T null E V 78 78 missense 0.751 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs191450268 22q11.22 22 22812170G> A null R K 79 79 2.0E-4 missense 0.24 benign 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs780984151 22q11.22 22 22812173T> G null F C 80 80 missense 0.5 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs746483425 22q11.22 22 22812172T> A null F I 80 80 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs746483425 22q11.22 22 22812172T> C null F L 80 80 missense 0.397 benign 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs780984151 22q11.22 22 22812173T> C null F S 80 80 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs746483425 22q11.22 22 22812172T> G null F V 80 80 missense 0.926 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs1402406595 22q11.22 22 22812175T> C null S P 81 81 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs559799990 22q11.22 22 22812179G> C null G A 82 82 2.0E-4 missense 0.57 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs559799990 22q11.22 22 22812179G> A null G D 82 82 2.0E-4 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,TOPMed,gnomAD rs376294430 22q11.22 22 22812182C> T null S F 83 83 missense 0.229 benign 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs369814628 22q11.22 22 22812184A> T null S C 84 84 2.0E-4 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,gnomAD rs369814628 22q11.22 22 22812184A> G null S G 84 84 2.0E-4 missense 0.045 benign 0.05 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1065467 22q11.22 22 22812185G> A null S N 84 84 missense 0.045 benign 1.0 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,NCI-TCGA,gnomAD rs374096643 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22812186C> G null S R 84 84 3.99E-4 missense 0.686 possibly damaging 0.15 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1065467 22q11.22 22 22812185G> C null S T 84 84 missense 0.046 benign 0.11 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs765490888 22q11.22 22 22812187T> G null S A 85 85 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 Ensembl rs1065468 22q11.22 22 22812188C> T null S L 85 85 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC rs758715660 22q11.22 22 22812190G> C null G R 86 86 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs1210330906 22q11.22 22 22812193A> G null T A 87 87 missense 0.29 benign 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs1065469 22q11.22 22 22812194C> T null T I 87 87 missense 0.793 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs1065469 22q11.22 22 22812194C> G null T R 87 87 missense 0.464 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,TOPMed,gnomAD rs377587017 22q11.22 22 22812197T> A null M K 88 88 missense 0.048 benign 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373883710 22q11.22 22 22812196A> T null M L 88 88 5.99E-4 missense 0.003 benign 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373883710 22q11.22 22 22812196A> C null M L 88 88 5.99E-4 missense 0.003 benign 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,TOPMed,gnomAD rs377587017 22q11.22 22 22812197T> C null M T 88 88 missense 0.0 benign 1.0 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373883710 22q11.22 22 22812196A> G null M V 88 88 5.99E-4 missense 0.0 benign 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs550698827 22q11.22 22 22812200C> A null A D 89 89 3.99E-4 missense 0.554 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 Ensembl rs547261498 22q11.22 22 22812199G> A null A T 89 89 missense 0.065 benign 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,TOPMed,gnomAD rs550698827 22q11.22 22 22812200C> T null A V 89 89 3.99E-4 missense 0.015 benign 0.06 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 Ensembl rs567238588 22q11.22 22 22812202A> T null T S 90 90 missense 0.488 possibly damaging 0.13 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs536235724 22q11.22 22 22812207G> C null L F 91 91 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs1065470 22q11.22 22 22812209C> T null T I 92 92 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs1065470 22q11.22 22 22812209C> A null T N 92 92 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs1065470 22q11.22 22 22812209C> G null T S 92 92 missense 0.976 probably damaging 0.05 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs375610512 22q11.22 22 22812211A> T null I F 93 93 missense 0.806 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs375610512 22q11.22 22 22812211A> C null I L 93 93 missense 0.056 benign 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs375610512 22q11.22 22 22812211A> G null I V 93 93 missense 0.056 benign 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs552806046 22q11.22 22 22812215G> A null S N 94 94 5.99E-4 missense 0.061 benign 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1388366909 22q11.22 22 22812214A> C null S R 94 94 missense 0.089 benign 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs552806046 22q11.22 22 22812215G> C null S T 94 94 5.99E-4 missense 0.102 benign 0.33 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs755592779 22q11.22 22 22812218G> A null G E 95 95 missense 0.85 possibly damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed rs1312444199 22q11.22 22 22812221C> T null A V 96 96 missense 0.021 benign 0.64 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs539161738 22q11.22 22 22812225G> C null Q H 97 97 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs538598505 22q11.22 22 22812224A> G null Q R 97 97 3.99E-4 missense 0.027 benign 0.21 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs368387840 22q11.22 22 22812231G> C null E D 99 99 missense 0.109 benign 0.05 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs778730457 22q11.22 22 22812230A> G null E G 99 99 missense 0.889 possibly damaging 0.21 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC rs754788955 22q11.22 22 22812229G> C null E Q 99 99 missense 0.889 possibly damaging 0.17 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1479943084 22q11.22 22 22812233A> C null D A 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1479943084 22q11.22 22 22812233A> G null D G 100 100 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1479943084 22q11.22 22 22812233A> T null D V 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs773158021 22q11.22 22 22812237A> T null E D 101 101 missense 0.936 probably damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs771960220 22q11.22 22 22812236A> G null E G 101 101 missense 0.973 probably damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs80223369 22q11.22 22 22812239C> A null A D 102 102 0.02656 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs80223369 22q11.22 22 22812239C> G null A G 102 102 0.02656 missense 0.93 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs572623300 22q11.22 22 22812238G> A null A T 102 102 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs80223369 22q11.22 22 22812239C> T null A V 102 102 0.02656 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs575228705 22q11.22 22 22812245A> G null Y C 104 104 3.99E-4 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs575228705 22q11.22 22 22812245A> T null Y F 104 104 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs375544939 22q11.22 22 22812244T> C null Y H 104 104 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs375544939 22q11.22 22 22812244T> A null Y N 104 104 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs367586515 22q11.22 22 22812249C> A null Y * 105 105 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs762288638 22q11.22 22 22812248A> G null Y C 105 105 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs762288638 22q11.22 22 22812248A> T null Y F 105 105 missense 0.324 benign 0.05 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,gnomAD rs544313300 22q11.22 22 22812247T> C null Y H 105 105 2.0E-4 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,gnomAD rs544313300 22q11.22 22 22812247T> A null Y N 105 105 2.0E-4 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs750969462 22q11.22 22 22812250T> G null C G 106 106 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs750969462 22q11.22 22 22812250T> C null C R 106 106 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs41277285 22q11.22 22 22812251G> A null C Y 106 106 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs1065471 22q11.22 22 22812255C> G null Y * 107 107 2.0E-4 stop gained 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs183655625 22q11.22 22 22812254A> T null Y F 107 107 missense 0.0 benign 0.47 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs183655625 22q11.22 22 22812254A> C null Y S 107 107 missense 0.04 benign 0.29 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1306320091 22q11.22 22 22812256T> C null S P 108 108 missense 0.985 probably damaging 0.09 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs752443325 22q11.22 22 22812259A> G null T A 109 109 missense 0.0 benign 0.46 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,gnomAD rs371860384 22q11.22 22 22812260C> T null T I 109 109 missense 0.022 benign 0.14 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,TOPMed,gnomAD rs777623750 22q11.22 22 22812264C> G null D E 110 110 missense 0.503 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1212136990 22q11.22 22 22812262G> C null D H 110 110 missense 0.826 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs746973306 22q11.22 22 22812265A> T null S C 111 111 missense 0.9 possibly damaging 0.0 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs769890657 22q11.22 22 22812266G> T null S I 111 111 missense 0.059 benign 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs769890657 22q11.22 22 22812266G> A null S N 111 111 missense 0.035 benign 0.18 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,gnomAD rs749414172 22q11.22 22 22812267C> A null S R 111 111 missense 0.765 possibly damaging 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC,NCI-TCGA,gnomAD rs769890657 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22812266G> C null S T 111 111 missense 0.484 possibly damaging 0.05 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 TOPMed,gnomAD rs1424998014 22q11.22 22 22812268A> C null S R 112 112 missense 0.51 possibly damaging 0.03 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 gnomAD rs1165418857 22q11.22 22 22812269G> C null S T 112 112 missense 0.015 benign 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs558990974 22q11.22 22 22812272G> C null G A 113 113 2.0E-4 missense 0.017 benign 0.21 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs558990974 22q11.22 22 22812272G> A null G D 113 113 2.0E-4 missense 0.006 benign 0.19 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC,gnomAD rs558990974 22q11.22 22 22812272G> T null G V 113 113 2.0E-4 missense 0.321 benign 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC rs374795420 22q11.22 22 22812274A> G null N D 114 114 missense 0.006 benign 0.5 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC rs543253335 22q11.22 22 22812275A> T null N I 114 114 2.0E-4 missense 0.321 benign 0.04 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 Ensembl rs1569024764 22q11.22 22 22812276T> A null N K 114 114 missense 0.119 benign 0.18 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 1000Genomes,ExAC rs543253335 22q11.22 22 22812275A> G null N S 114 114 2.0E-4 missense 0.019 benign 0.36 tolerated 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC rs374795420 22q11.22 22 22812274A> T null N Y 114 114 missense 0.656 possibly damaging 0.01 deleterious 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ExAC rs761135211 22q11.22 22 22812278A> T null H L 115 115 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 ESP,ExAC,TOPMed rs367977093 22q11.22 22 22812279T> A null H Q 115 115 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B6K4 IGLV3-10 Immunoglobulin lambda variable 3-10 Ensembl rs1569024789 22q11.22 22 22812278_22812279insAGAAGGGTGGTATTCGGCGGAGGGACCAAGCTGACCGTCCTAGGTGAGTCTC T null H Q 115 115 stop gained 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1469451044 22q11.22 22 22819129C> T null A V 2 2 missense 0.076 benign 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1436793274 22q11.22 22 22819133G> A null W * 3 3 stop gained 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1406133003 22q11.22 22 22819131T> C null W R 3 3 missense 0.404 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,TOPMed,gnomAD rs538635581 22q11.22 22 22819137G> A null A T 5 5 3.99E-4 missense 0.005 benign 0.06 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1412956251 22q11.22 22 22819138C> T null A V 5 5 missense 0.0 benign 0.06 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs758983744 22q11.22 22 22819140C> T null L F 6 6 missense 0.457 possibly damaging 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,TOPMed,gnomAD rs558648871 22q11.22 22 22819149A> G null S G 9 9 0.001198 missense 0.0 benign 0.89 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 TOPMed,gnomAD rs1442016871 22q11.22 22 22819151C> G null S R 9 9 missense 0.127 benign 0.22 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1278138378 22q11.22 22 22819156T> C null L P 11 11 missense 0.423 benign 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 TOPMed,gnomAD rs913209147 22q11.22 22 22819161C> A null H N 13 13 missense 0.02 benign 0.28 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 TOPMed,gnomAD rs1345148714 22q11.22 22 22819162A> G null H R 13 13 missense 0.28 benign 0.34 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs775097231 22q11.22 22 22819166T> A null F L 14 14 missense 0.0 benign 0.06 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1206606973 22q11.22 22 22819164T> C null F L 14 14 missense 0.0 benign 0.06 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs773103132 22q11.22 22 22819457G> C null G A 16 16 missense 0.166 benign 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs773103132 22q11.22 22 22819457G> A null G D 16 16 missense 0.246 benign 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1380090240 22q11.22 22 22819462G> A null V M 18 18 missense 0.131 benign 0.16 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs753834689 22q11.22 22 22819472A> G null Y C 21 21 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs753834689 22q11.22 22 22819472A> T null Y F 21 21 missense 0.96 probably damaging 0.07 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs753834689 22q11.22 22 22819472A> C null Y S 21 21 missense 0.762 possibly damaging 0.43 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1314161895 22q11.22 22 22819474G> T null E * 22 22 stop gained 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs561440742 22q11.22 22 22819476G> C null E D 22 22 2.0E-4 missense 0.038 benign 0.5 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1314161895 22q11.22 22 22819474G> A null E K 22 22 missense 0.102 benign 0.72 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs751712461 22q11.22 22 22819477C> G null L V 23 23 missense 0.408 benign 0.1 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1291320644 22q11.22 22 22819480A> G null T A 24 24 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs781288974 22q11.22 22 22819481C> T null T I 24 24 missense 0.56 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC rs766292978 22q11.22 22 22819480_22819481insGCTG A null T S 24 24 stop gained 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs750725180 22q11.22 22 22819485G> C null Q H 25 25 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,TOPMed,gnomAD rs376774230 22q11.22 22 22819486C> G null P A 26 26 missense 0.168 benign 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,TOPMed,gnomAD rs376774230 22q11.22 22 22819486C> A null P T 26 26 missense 0.259 benign 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,gnomAD rs368921797 22q11.22 22 22819489C> T null L F 27 27 2.0E-4 missense 0.095 benign 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,gnomAD rs546793439 22q11.22 22 22819490T> A null L H 27 27 2.0E-4 missense 0.003 benign 0.07 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,gnomAD rs368921797 22q11.22 22 22819489C> A null L I 27 27 2.0E-4 missense 0.005 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,gnomAD rs546793439 22q11.22 22 22819490T> C null L P 27 27 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,gnomAD rs368921797 22q11.22 22 22819489C> G null L V 27 27 2.0E-4 missense 0.024 benign 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1187894997 22q11.22 22 22819492T> C null S P 28 28 missense 0.168 benign 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1187894997 22q11.22 22 22819492T> A null S T 28 28 missense 0.259 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1421251363 22q11.22 22 22819496T> C null V A 29 29 missense 0.052 benign 0.05 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,NCI-TCGA,gnomAD rs773013389 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22819495G> A null V M 29 29 missense 0.301 benign 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs760482827 22q11.22 22 22819499C> G null S * 30 30 stop gained 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs760482827 22q11.22 22 22819499C> T null S L 30 30 missense 0.404 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs776700515 22q11.22 22 22819502T> C null V A 31 31 missense 0.246 benign 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,gnomAD rs373017150 22q11.22 22 22819505C> T null A V 32 32 missense 0.37 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs765113819 22q11.22 22 22819508T> C null L P 33 33 missense 0.015 benign 0.4 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1244079314 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22819511G> A null G E 34 34 missense 0.414 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs751605268 22q11.22 22 22819516A> G null T A 36 36 missense 0.036 benign 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,NCI-TCGA,TOPMed,gnomAD rs780689649 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22819517C> T null T M 36 36 missense 0.095 benign 0.1 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs751605268 22q11.22 22 22819516A> C null T P 36 36 missense 0.057 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1335451398 22q11.22 22 22819520C> A null A D 37 37 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs560116566 22q11.22 22 22819522A> G null R G 38 38 2.0E-4 missense 0.03 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs532432136 22q11.22 22 22819523G> A null R K 38 38 2.0E-4 missense 0.012 benign 0.4 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs532432136 22q11.22 22 22819523G> T null R M 38 38 2.0E-4 missense 0.199 benign 0.05 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs779311639 22q11.22 22 22819524G> C null R S 38 38 missense 0.035 benign 0.29 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs532432136 22q11.22 22 22819523G> C null R T 38 38 2.0E-4 missense 0.035 benign 0.62 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs757852868 22q11.22 22 22819525A> T null I F 39 39 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs757852868 22q11.22 22 22819525A> C null I L 39 39 missense 0.047 benign 0.25 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 Ensembl rs1363823657 22q11.22 22 22819526T> C null I T 39 39 missense 0.259 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs757852868 22q11.22 22 22819525A> G null I V 39 39 missense 0.076 benign 0.07 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs770831220 22q11.22 22 22819528A> G null T A 40 40 missense 0.883 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 TOPMed,gnomAD rs1178186518 22q11.22 22 22819529C> T null T I 40 40 missense 0.635 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs770831220 22q11.22 22 22819528A> C null T P 40 40 missense 0.397 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 TOPMed,gnomAD rs1178186518 22q11.22 22 22819529C> G null T S 40 40 missense 0.533 possibly damaging 0.18 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs180889997 22q11.22 22 22819535G> C null G A 42 42 missense 0.47 possibly damaging 0.14 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs180889997 22q11.22 22 22819535G> A null G E 42 42 missense 0.042 benign 0.33 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs769711588 22q11.22 22 22819534G> A null G R 42 42 missense 0.097 benign 0.12 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs180889997 22q11.22 22 22819535G> T null G V 42 42 missense 0.755 possibly damaging 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs766619498 22q11.22 22 22819538G> C null G A 43 43 missense 0.408 benign 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs766619498 22q11.22 22 22819538G> A null G E 43 43 missense 0.529 possibly damaging 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs537843361 22q11.22 22 22819537G> A null G R 43 43 3.99E-4 missense 0.977 probably damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs753200598 22q11.22 22 22819540A> C null N H 44 44 missense 0.141 benign 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1297496080 22q11.22 22 22819541A> T null N I 44 44 missense 0.892 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs757974964 22q11.22 22 22819542C> A null N K 44 44 missense 0.255 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs757974964 22q11.22 22 22819542C> G null N K 44 44 missense 0.255 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1297496080 22q11.22 22 22819541A> G null N S 44 44 missense 0.103 benign 0.28 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs753200598 22q11.22 22 22819540A> T null N Y 44 44 missense 0.854 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs756935057 22q11.22 22 22819543A> G null N D 45 45 missense 0.076 benign 0.1 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs745621281 22q11.22 22 22819545C> A null N K 45 45 missense 0.301 benign 0.19 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs745621281 22q11.22 22 22819545C> G null N K 45 45 missense 0.301 benign 0.19 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs547938063 22q11.22 22 22819544A> G null N S 45 45 2.0E-4 missense 0.054 benign 0.25 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs775494889 22q11.22 22 22819546A> T null I F 46 46 missense 0.331 benign 0.1 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs749225592 22q11.22 22 22819547T> G null I S 46 46 missense 0.903 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs775494889 22q11.22 22 22819546A> G null I V 46 46 missense 0.166 benign 0.09 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1205873814 22q11.22 22 22819549G> T null G * 47 47 stop gained 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs187387271 22q11.22 22 22819550G> C null G A 47 47 missense 0.397 benign 0.06 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,NCI-TCGA,gnomAD rs187387271 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22819550G> A null G E 47 47 missense 0.397 benign 0.15 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1205873814 22q11.22 22 22819549G> A null G R 47 47 missense 0.708 possibly damaging 0.07 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs187387271 22q11.22 22 22819550G> T null G V 47 47 missense 0.962 probably damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs192342048 22q11.22 22 22819552A> T null S C 48 48 3.99E-4 missense 0.069 benign 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs192342048 22q11.22 22 22819552A> G null S G 48 48 3.99E-4 missense 0.007 benign 0.23 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs183080122 22q11.22 22 22819553G> T null S I 48 48 5.99E-4 missense 0.498 possibly damaging 0.07 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs183080122 22q11.22 22 22819553G> A null S N 48 48 5.99E-4 missense 0.014 benign 0.2 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs764716115 22q11.22 22 22819554T> G null S R 48 48 missense 0.014 benign 0.22 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs764716115 22q11.22 22 22819554T> A null S R 48 48 missense 0.014 benign 0.22 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs183080122 22q11.22 22 22819553G> C null S T 48 48 5.99E-4 missense 0.057 benign 0.12 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs780887217 22q11.22 22 22819555A> T null K * 49 49 stop gained 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs780887217 22q11.22 22 22819555A> G null K E 49 49 missense 0.097 benign 0.32 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs755908861 22q11.22 22 22819556A> T null K I 49 49 missense 0.645 possibly damaging 0.07 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs749103768 22q11.22 22 22819557A> C null K N 49 49 missense 0.097 benign 0.22 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs780887217 22q11.22 22 22819555A> C null K Q 49 49 missense 0.755 possibly damaging 0.19 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs755908861 22q11.22 22 22819556A> G null K R 49 49 missense 0.042 benign 0.24 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs755908861 22q11.22 22 22819556A> C null K T 49 49 missense 0.158 benign 0.19 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1169672209 22q11.22 22 22819558A> G null N D 50 50 missense 0.001 benign 0.11 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs768541805 22q11.22 22 22819559A> T null N I 50 50 missense 0.001 benign 0.12 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs778826336 22q11.22 22 22819560T> A null N K 50 50 missense 0.039 benign 0.08 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs768541805 22q11.22 22 22819559A> G null N S 50 50 missense 0.0 benign 0.31 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs768541805 22q11.22 22 22819559A> C null N T 50 50 missense 0.006 benign 0.11 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1169672209 22q11.22 22 22819558A> T null N Y 50 50 missense 0.0 benign 1.0 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1326313019 22q11.22 22 22819561G> A null V M 51 51 missense 0.579 possibly damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs759714999 22q11.22 22 22819564C> G null H D 52 52 missense 0.014 benign 0.09 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs763418425 22q11.22 22 22819566C> G null H Q 52 52 missense 0.006 benign 0.57 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs775664704 22q11.22 22 22819565A> G null H R 52 52 missense 0.302 benign 0.09 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs759714999 22q11.22 22 22819564C> T null H Y 52 52 missense 0.006 benign 0.62 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1295510541 22q11.22 22 22819569G> C null W C 53 53 missense 0.873 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs764642363 22q11.22 22 22819568G> C null W S 53 53 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs553512927 22q11.22 22 22819571A> G null Y C 54 54 3.99E-4 missense 0.533 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs553512927 22q11.22 22 22819571A> T null Y F 54 54 3.99E-4 missense 0.246 benign 0.09 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs752172341 22q11.22 22 22819570T> C null Y H 54 54 missense 0.246 benign 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs752172341 22q11.22 22 22819570T> A null Y N 54 54 missense 0.246 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs553512927 22q11.22 22 22819571A> C null Y S 54 54 3.99E-4 missense 0.903 possibly damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376208214 22q11.22 22 22819575G> C null Q H 55 55 0.001398 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs755674137 22q11.22 22 22819574A> G null Q R 55 55 missense 0.529 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,TOPMed,gnomAD rs538940042 22q11.22 22 22819576C> G null Q E 56 56 2.0E-4 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs778807861 22q11.22 22 22819578G> T null Q H 56 56 missense 0.708 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,TOPMed,gnomAD rs538940042 22q11.22 22 22819576C> A null Q K 56 56 2.0E-4 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1485911093 22q11.22 22 22819577A> G null Q R 56 56 missense 0.635 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,gnomAD rs377612572 22q11.22 22 22819580A> T null K M 57 57 missense 0.592 possibly damaging 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1261008264 22q11.22 22 22819579A> C null K Q 57 57 missense 0.441 benign 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,gnomAD rs377612572 22q11.22 22 22819580A> G null K R 57 57 missense 0.229 benign 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,gnomAD rs377612572 22q11.22 22 22819580A> C null K T 57 57 missense 0.341 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs745978514 22q11.22 22 22819582C> G null P A 58 58 missense 0.246 benign 0.05 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs745978514 22q11.22 22 22819582C> T null P S 58 58 missense 0.361 benign 0.07 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,TOPMed,gnomAD rs558824928 22q11.22 22 22819586G> T null G V 59 59 2.0E-4 missense 0.083 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1347121817 22q11.22 22 22819592C> A null A D 61 61 missense 0.109 benign 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1431664333 22q11.22 22 22819598T> C null V A 63 63 missense 0.042 benign 0.08 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs769213810 22q11.22 22 22819600C> A null L M 64 64 missense 0.365 benign 0.05 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs769213810 22q11.22 22 22819600C> G null L V 64 64 missense 0.691 possibly damaging 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1294404079 22q11.22 22 22819603G> C null V L 65 65 missense 0.076 benign 0.19 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,gnomAD rs374490303 22q11.22 22 22819608C> G null I M 66 66 missense 0.569 possibly damaging 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs760237267 22q11.22 22 22819607T> A null I N 66 66 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs760237267 22q11.22 22 22819607T> G null I S 66 66 missense 0.886 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs760237267 22q11.22 22 22819607T> C null I T 66 66 missense 0.464 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1226894001 22q11.22 22 22819606A> G null I V 66 66 missense 0.142 benign 0.06 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs575195055 22q11.22 22 22819612A> G null R G 68 68 2.0E-4 missense 0.0 benign 0.58 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs745882167 22q11.22 22 22819613G> A null R K 68 68 missense 0.003 benign 1.0 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs575195055 22q11.22 22 22819612A> T null R W 68 68 2.0E-4 missense 0.49 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs749564373 22q11.22 22 22819616A> C null D A 69 69 missense 0.793 possibly damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs769122017 22q11.22 22 22819617T> G null D E 69 69 missense 0.392 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs749564373 22q11.22 22 22819616A> G null D G 69 69 missense 0.793 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs780422244 22q11.22 22 22819615G> A null D N 69 69 missense 0.076 benign 0.22 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs749564373 22q11.22 22 22819616A> T null D V 69 69 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,gnomAD rs371193888 22q11.22 22 22819618A> T null S C 70 70 2.0E-4 missense 0.886 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,gnomAD rs371193888 22q11.22 22 22819618A> G null S G 70 70 2.0E-4 missense 0.02 benign 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC rs111894401 22q11.22 22 22819619G> T null S I 70 70 7.99E-4 missense 0.081 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC rs111894401 22q11.22 22 22819619G> A null S N 70 70 7.99E-4 missense 0.012 benign 0.39 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,gnomAD rs373700595 22q11.22 22 22819620C> G null S R 70 70 missense 0.03 benign 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC rs111894401 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22819619G> C null S T 70 70 7.99E-4 missense 0.051 benign 0.1 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs182644149 22q11.22 22 22819621A> C null N H 71 71 3.99E-4 missense 0.554 possibly damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,gnomAD rs371486803 22q11.22 22 22819623C> G null N K 71 71 missense 0.006 benign 0.75 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367855464 22q11.22 22 22819622A> G null N S 71 71 2.0E-4 missense 0.01 benign 0.37 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367855464 22q11.22 22 22819622A> C null N T 71 71 2.0E-4 missense 0.158 benign 0.12 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs182644149 22q11.22 22 22819621A> T null N Y 71 71 3.99E-4 missense 0.022 benign 0.06 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs547468450 22q11.22 22 22819625G> C null R P 72 72 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs547468450 22q11.22 22 22819625G> A null R Q 72 72 missense 0.455 possibly damaging 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374969705 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22819624C> T null R W 72 72 missense 0.628 possibly damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs756120400 22q11.22 22 22819627C> A null P T 73 73 missense 0.749 possibly damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs560285687 22q11.22 22 22819630T> C null S P 74 74 2.0E-4 missense 0.961 probably damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs532395355 22q11.22 22 22819634G> C null G A 75 75 2.0E-4 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs532395355 22q11.22 22 22819634G> A null G E 75 75 2.0E-4 missense 0.806 possibly damaging 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 TOPMed,gnomAD rs1349440180 22q11.22 22 22819639C> T null P S 77 77 missense 0.436 benign 0.07 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 TOPMed,gnomAD rs1349440180 22q11.22 22 22819639C> A null P T 77 77 missense 0.927 probably damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 TOPMed,gnomAD rs1279608306 22q11.22 22 22819643A> G null E G 78 78 missense 0.31 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,TOPMed,gnomAD rs375639595 22q11.22 22 22819645C> T null R * 79 79 stop gained 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,NCI-TCGA,TOPMed,gnomAD rs747589489 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22819646G> A null R Q 79 79 missense 0.411 benign 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs776066647 22q11.22 22 22819648T> A null F I 80 80 missense 0.749 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,NCI-TCGA,gnomAD rs776066647 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22819648T> C null F L 80 80 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142285633 22q11.22 22 22819650C> A null F L 80 80 0.001198 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1378627854 22q11.22 22 22819649T> C null F S 80 80 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs775274123 22q11.22 22 22819655G> C null G A 82 82 missense 0.529 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs775274123 22q11.22 22 22819655G> T null G V 82 82 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC rs762655461 22q11.22 22 22819660A> C null N H 84 84 missense 0.933 probably damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,gnomAD rs376361030 22q11.22 22 22819662C> G null N K 84 84 missense 0.076 benign 0.31 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs763992210 22q11.22 22 22819661A> G null N S 84 84 missense 0.19 benign 0.44 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs763992210 22q11.22 22 22819661A> C null N T 84 84 missense 0.19 benign 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,NCI-TCGA,TOPMed,gnomAD rs767596949 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22819664C> T null S L 85 85 missense 0.165 benign 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs753029632 22q11.22 22 22819667G> A null G E 86 86 missense 0.308 benign 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs779263394 22q11.22 22 22819666G> A null G R 86 86 missense 0.486 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs778248788 22q11.22 22 22819669A> G null N D 87 87 missense 0.324 benign 0.09 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs778248788 22q11.22 22 22819669A> C null N H 87 87 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs771385568 22q11.22 22 22819671C> G null N K 87 87 missense 0.932 probably damaging 0.08 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs771385568 22q11.22 22 22819671C> A null N K 87 87 missense 0.932 probably damaging 0.08 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,NCI-TCGA,gnomAD rs745321295 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22819673C> T null T M 88 88 missense 0.678 possibly damaging 0.09 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1273573106 22q11.22 22 22819678A> G null T A 90 90 missense 0.662 possibly damaging 0.03 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,gnomAD rs373538267 22q11.22 22 22819685C> T null T I 92 92 2.0E-4 missense 0.441 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,gnomAD rs373538267 22q11.22 22 22819685C> G null T S 92 92 2.0E-4 missense 0.341 benign 0.06 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC rs774156547 22q11.22 22 22819688T> C null I T 93 93 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs767505034 22q11.22 22 22819690A> G null S G 94 94 missense 0.127 benign 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1469975499 22q11.22 22 22819691G> A null S N 94 94 missense 0.127 benign 0.06 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1469975499 22q11.22 22 22819691G> C null S T 94 94 missense 0.134 benign 0.34 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs750444372 22q11.22 22 22819693A> G null R G 95 95 missense 0.0 benign 1.0 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs759683372 22q11.22 22 22819694G> C null R T 95 95 missense 0.039 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 TOPMed,gnomAD rs1477051961 22q11.22 22 22819696G> C null A P 96 96 missense 0.904 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1170160263 22q11.22 22 22819697C> T null A V 96 96 missense 0.029 benign 0.59 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,TOPMed,gnomAD rs377582753 22q11.22 22 22819703C> A null A D 98 98 missense 0.312 benign 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,TOPMed,gnomAD rs377582753 22q11.22 22 22819703C> G null A G 98 98 missense 0.229 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,TOPMed,gnomAD rs377582753 22q11.22 22 22819703C> T null A V 98 98 missense 0.617 possibly damaging 0.05 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1469955093 22q11.22 22 22819706G> A null G E 99 99 missense 0.001 benign 1.0 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200227928 22q11.22 22 22819705G> A null G R 99 99 0.002995 missense 0.018 benign 0.06 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC rs757627231 22q11.22 22 22819709A> G null D G 100 100 missense 0.825 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1328872360 22q11.22 22 22819708G> A null D N 100 100 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs567994291 22q11.22 22 22819715C> G null A G 102 102 2.0E-4 missense 0.529 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 TOPMed,gnomAD rs1270767659 22q11.22 22 22819714G> T null A S 102 102 missense 0.846 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,TOPMed,gnomAD rs533872802 22q11.22 22 22819719C> A null D E 103 103 2.0E-4 missense 0.678 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs769273902 22q11.22 22 22819718A> T null D V 103 103 missense 0.635 possibly damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs547219517 22q11.22 22 22819721A> G null Y C 104 104 3.99E-4 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs547219517 22q11.22 22 22819721A> C null Y S 104 104 3.99E-4 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ESP,ExAC,TOPMed,gnomAD rs376829762 22q11.22 22 22819725C> G null Y * 105 105 stop gained 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs773252471 22q11.22 22 22819724A> T null Y F 105 105 missense 0.529 possibly damaging 0.05 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs772057872 22q11.22 22 22819723T> C null Y H 105 105 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs773252471 22q11.22 22 22819724A> C null Y S 105 105 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs766247778 22q11.22 22 22819727G> C null C S 106 106 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs766247778 22q11.22 22 22819727G> A null C Y 106 106 missense 0.463 possibly damaging 0.0 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs762944006 22q11.22 22 22819733T> C null V A 108 108 missense 0.045 benign 0.38 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1477768547 22q11.22 22 22819732G> A null V M 108 108 missense 0.199 benign 0.1 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs751833769 22q11.22 22 22819737G> A null W * 109 109 stop gained 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC rs764314216 22q11.22 22 22819735T> G null W G 109 109 missense 0.062 benign 0.05 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs566723085 22q11.22 22 22819740C> G null D E 110 110 2.0E-4 missense 0.19 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs767922319 22q11.22 22 22819739A> G null D G 110 110 missense 0.119 benign 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC rs757590277 22q11.22 22 22819738G> C null D H 110 110 missense 0.119 benign 0.04 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed,gnomAD rs756576906 22q11.22 22 22819741A> G null S G 111 111 missense 0.012 benign 0.14 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC rs538854411 22q11.22 22 22819742G> T null S I 111 111 2.0E-4 missense 0.048 benign 0.06 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs1383471385 22q11.22 22 22819743C> G null S R 111 111 missense 0.048 benign 0.01 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC rs748776882 22q11.22 22 22819744A> G null S G 112 112 missense 0.042 benign 0.09 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs754505679 22q11.22 22 22819745G> A null S N 112 112 missense 0.042 benign 0.12 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,TOPMed rs778624887 22q11.22 22 22819746C> A null S R 112 112 missense 0.097 benign 0.02 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC,gnomAD rs754505679 22q11.22 22 22819745G> C null S T 112 112 missense 0.158 benign 0.08 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 ExAC rs747842066 22q11.22 22 22819747A> C null T P 113 113 missense 0.001 benign 0.05 deleterious 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs558789180 22q11.22 22 22819751C> A null A E 114 114 2.0E-4 missense 0.078 benign 0.47 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 Ensembl rs112997318 22q11.22 22 22819750G> A null A T 114 114 missense 0.078 benign 0.34 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 1000Genomes,ExAC,gnomAD rs558789180 22q11.22 22 22819751C> T null A V 114 114 2.0E-4 missense 0.011 benign 0.14 tolerated 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs113381592 22q11.22 22 22819753C> G null H D 115 115 missense 0.242 benign 0.01 deleterious - low confidence 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 Ensembl rs1569029250 22q11.22 22 22819752_22819753insAGCTGACCGTCCTAGGTGAGTCTCTTCTCC C null H S 115 115 stop gained 0 A0A075B6K5 IGLV3-9 Immunoglobulin lambda variable 3-9 gnomAD rs113381592 22q11.22 22 22819753C> T null H Y 115 115 missense 0.015 benign 0.08 tolerated - low confidence 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,TOPMed,gnomAD rs557855992 22q11.22 22 22871543C> A null A D 2 2 0.001997 missense 0.009 benign 0.05 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs752997498 22q11.22 22 22871552C> G null S C 5 5 missense 0.727 possibly damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs752997498 22q11.22 22 22871552C> T null S F 5 5 missense 0.25 benign 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed rs1439108988 22q11.22 22 22871551T> A null S T 5 5 missense 0.155 benign 0.05 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed,gnomAD rs1159112541 22q11.22 22 22871555T> C null F S 6 6 missense 0.02 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs763362972 22q11.22 22 22871564T> A null L Q 9 9 missense 0.078 benign 0.08 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs763362972 22q11.22 22 22871564T> G null L R 9 9 missense 0.335 benign 0.06 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1342456003 22q11.22 22 22871566C> A null P T 10 10 missense 0.555 possibly damaging 0.07 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs759832449 22q11.22 22 22871582C> T null T I 15 15 missense 0.756 possibly damaging 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed rs950796621 22q11.22 22 22871584G> T null G C 16 16 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs561714904 22q11.22 22 22871717G> C null C S 18 18 2.0E-4 missense 0.085 benign 0.21 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,gnomAD rs370243474 22q11.22 22 22871716T> A null C S 18 18 missense 0.085 benign 0.21 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs561714904 22q11.22 22 22871717G> A null C Y 18 18 2.0E-4 missense 0.623 possibly damaging 0.2 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs747975980 22q11.22 22 22871719G> T null A S 19 19 missense 0.228 benign 1.0 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs747975980 22q11.22 22 22871719G> A null A T 19 19 missense 0.811 possibly damaging 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs758208658 22q11.22 22 22871720C> T null A V 19 19 missense 0.419 benign 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed rs1194189460 22q11.22 22 22871723T> C null L P 20 20 missense 0.023 benign 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed,gnomAD rs993125730 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22871725C> T null P S 21 21 missense 0.306 benign 0.05 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1204720129 22q11.22 22 22871729T> C null V A 22 22 missense 0.65 possibly damaging 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs777820630 22q11.22 22 22871728G> T null V L 22 22 missense 0.052 benign 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs769901597 22q11.22 22 22871731C> G null L V 23 23 missense 0.949 probably damaging 0.17 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs527704118 22q11.22 22 22871734A> G null T A 24 24 3.99E-4 missense 0.84 possibly damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs527704118 22q11.22 22 22871734A> C null T P 24 24 3.99E-4 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC rs749460925 22q11.22 22 22871735C> G null T S 24 24 missense 0.555 possibly damaging 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs768895778 22q11.22 22 22871744C> T null P L 27 27 missense 0.131 benign 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs547527775 22q11.22 22 22871750C> A null A E 29 29 2.0E-4 missense 0.972 probably damaging 0.08 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs547527775 22q11.22 22 22871750C> G null A G 29 29 2.0E-4 missense 0.959 probably damaging 0.06 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs547527775 22q11.22 22 22871750C> T null A V 29 29 2.0E-4 missense 0.312 benign 0.49 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs569943641 22q11.22 22 22871756C> G null A G 31 31 2.0E-4 missense 0.182 benign 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs549996440 22q11.22 22 22871755G> T null A S 31 31 2.0E-4 missense 0.387 benign 0.18 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs569943641 22q11.22 22 22871756C> T null A V 31 31 2.0E-4 missense 0.387 benign 0.13 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs535781812 22q11.22 22 22871759T> A null L * 32 32 2.0E-4 stop gained 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,TOPMed,gnomAD rs191969136 22q11.22 22 22871760G> T null L F 32 32 2.0E-4 missense 0.014 benign 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,TOPMed,gnomAD rs191969136 22q11.22 22 22871760G> C null L F 32 32 2.0E-4 missense 0.014 benign 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs535781812 22q11.22 22 22871759T> C null L S 32 32 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs753432841 22q11.22 22 22871758T> G null L V 32 32 missense 0.0 benign 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes rs534602428 22q11.22 22 22871762T> G null L R 33 33 2.0E-4 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs530049227 22q11.22 22 22871761C> G null L V 33 33 2.0E-4 missense 0.387 benign 0.09 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1404777520 22q11.22 22 22871764G> A null G R 34 34 missense 0.693 possibly damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs747015692 22q11.22 22 22871768C> A null A D 35 35 missense 0.173 benign 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs747015692 22q11.22 22 22871768C> G null A G 35 35 missense 0.069 benign 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs747015692 22q11.22 22 22871768C> T null A V 35 35 missense 0.696 possibly damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs757206069 22q11.22 22 22871771C> T null S L 36 36 missense 0.035 benign 0.07 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs774703280 22q11.22 22 22871775C> G null I M 37 37 missense 0.261 benign 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC rs768852823 22q11.22 22 22871774T> C null I T 37 37 missense 0.007 benign 0.09 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1294781260 22q11.22 22 22871773A> G null I V 37 37 missense 0.0 benign 0.97 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs748432465 22q11.22 22 22871777A> G null K R 38 38 missense 0.267 benign 0.83 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs748432465 22q11.22 22 22871777A> C null K T 38 38 missense 0.538 possibly damaging 0.06 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs557525264 22q11.22 22 22871779C> T null L F 39 39 3.99E-4 missense 0.829 possibly damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs557525264 22q11.22 22 22871779C> G null L V 39 39 3.99E-4 missense 0.95 probably damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs577706406 22q11.22 22 22871783C> T null T I 40 40 3.99E-4 missense 0.419 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs577706406 22q11.22 22 22871783C> G null T S 40 40 3.99E-4 missense 0.306 benign 0.2 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1187392948 22q11.22 22 22871787C> A null C * 41 41 stop gained 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1486041134 22q11.22 22 22871786G> T null C F 41 41 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1261293256 22q11.22 22 22871789C> T null T I 42 42 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes rs539639912 22q11.22 22 22871791C> G null L V 43 43 2.0E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1166975827 22q11.22 22 22871794A> G null S G 44 44 missense 0.63 possibly damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs776219777 22q11.22 22 22871795G> T null S I 44 44 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs776219777 22q11.22 22 22871795G> A null S N 44 44 missense 0.993 probably damaging 0.05 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1424621330 22q11.22 22 22871796C> A null S R 44 44 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs776219777 22q11.22 22 22871795G> C null S T 44 44 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs759171198 22q11.22 22 22871797A> T null S C 45 45 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1362859060 22q11.22 22 22871798G> A null S N 45 45 missense 0.75 possibly damaging 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs752430923 22q11.22 22 22871800G> A null E K 46 46 missense 0.924 probably damaging 0.12 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs763898216 22q11.22 22 22871805C> A null H Q 47 47 missense 0.108 benign 0.07 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 Ensembl rs1569060780 22q11.22 22 22871803C> T null H Y 47 47 missense 0.025 benign 0.66 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 Ensembl rs569991760 22q11.22 22 22871806A> G null S G 48 48 missense 0.91 probably damaging 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs576246152 22q11.22 22 22871807G> A null S N 48 48 2.0E-4 missense 0.481 possibly damaging 0.17 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs183930410 22q11.22 22 22871808C> G null S R 48 48 2.0E-4 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs183930410 22q11.22 22 22871808C> A null S R 48 48 2.0E-4 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs576246152 22q11.22 22 22871807G> C null S T 48 48 2.0E-4 missense 0.97 probably damaging 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs772217932 22q11.22 22 22871810C> A null T N 49 49 missense 0.006 benign 0.81 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs772217932 22q11.22 22 22871810C> G null T S 49 49 missense 0.01 benign 0.98 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs562049551 22q11.22 22 22871809A> T null T S 49 49 2.0E-4 missense 0.01 benign 0.98 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs572069822 22q11.22 22 22871812T> C null Y H 50 50 2.0E-4 missense 0.138 benign 0.06 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs572069822 22q11.22 22 22871812T> A null Y N 50 50 2.0E-4 missense 0.893 possibly damaging 0.06 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs777340731 22q11.22 22 22871815A> G null T A 51 51 missense 0.078 benign 0.5 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs759083415 22q11.22 22 22871816C> T null T I 51 51 missense 0.007 benign 0.39 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs759083415 22q11.22 22 22871816C> G null T S 51 51 missense 0.007 benign 0.42 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs541456125 22q11.22 22 22871818A> C null I L 52 52 2.0E-4 missense 0.059 benign 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1444023537 22q11.22 22 22871819T> A null I N 52 52 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1444023537 22q11.22 22 22871819T> C null I T 52 52 missense 0.744 possibly damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs761663512 22q11.22 22 22871822A> G null E G 53 53 missense 0.049 benign 0.33 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs751342916 22q11.22 22 22871821G> A null E K 53 53 missense 0.049 benign 0.29 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs750411154 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.22 22 22871826G> A null W * 54 54 stop gained 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 Ensembl rs200929155 22q11.22 22 22871825G> A null W * 54 54 stop gained 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs750411154 22q11.22 22 22871826G> T null W C 54 54 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs750411154 22q11.22 22 22871826G> C null W C 54 54 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1343749083 22q11.22 22 22871824T> C null W R 54 54 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs778196121 22q11.22 22 22871828A> G null Y C 55 55 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs778196121 22q11.22 22 22871828A> T null Y F 55 55 missense 0.035 benign 0.19 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs188425943 22q11.22 22 22871827T> C null Y H 55 55 missense 0.131 benign 0.11 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs188425943 22q11.22 22 22871827T> A null Y N 55 55 missense 0.812 possibly damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs778196121 22q11.22 22 22871828A> C null Y S 55 55 missense 0.893 possibly damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs564421172 22q11.22 22 22871830C> G null Q E 56 56 3.99E-4 missense 0.65 possibly damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs190447116 22q11.22 22 22871833C> T null Q * 57 57 3.99E-4 stop gained 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs190447116 22q11.22 22 22871833C> G null Q E 57 57 3.99E-4 missense 0.933 probably damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs770233334 22q11.22 22 22871838A> C null R S 58 58 missense 0.026 benign 0.41 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs746327633 22q11.22 22 22871837G> C null R T 58 58 missense 0.237 benign 0.06 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs774997702 22q11.22 22 22871839C> G null P A 59 59 missense 0.035 benign 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,gnomAD rs373271121 22q11.22 22 22871840C> A null P Q 59 59 missense 0.325 benign 0.11 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,gnomAD rs373271121 22q11.22 22 22871840C> G null P R 59 59 missense 0.812 possibly damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs774997702 22q11.22 22 22871839C> T null P S 59 59 missense 0.228 benign 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs774997702 22q11.22 22 22871839C> A null P T 59 59 missense 0.741 possibly damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,NCI-TCGA,gnomAD rs768352202 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22871843G> A null G E 60 60 missense 0.475 possibly damaging 0.06 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1201817853 22q11.22 22 22871842G> A null G R 60 60 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs201517489 22q11.22 22 22871846G> T null R M 61 61 missense 0.543 possibly damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs201517489 22q11.22 22 22871846G> C null R T 61 61 missense 0.106 benign 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs760596970 22q11.22 22 22871856G> T null Q H 64 64 missense 0.424 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs760596970 22q11.22 22 22871856G> C null Q H 64 64 missense 0.424 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs761575704 22q11.22 22 22871854C> A null Q K 64 64 missense 0.03 benign 0.17 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199526511 22q11.22 22 22871855A> C null Q P 64 64 2.0E-4 missense 0.229 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199526511 22q11.22 22 22871855A> G null Q R 64 64 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs758470747 22q11.22 22 22871859T> G null Y * 65 65 stop gained 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs766245516 22q11.22 22 22871857T> G null Y D 65 65 missense 0.131 benign 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs563438042 22q11.22 22 22871858A> T null Y F 65 65 2.0E-4 missense 0.035 benign 0.58 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs766245516 22q11.22 22 22871857T> C null Y H 65 65 missense 0.207 benign 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs563438042 22q11.22 22 22871858A> C null Y S 65 65 2.0E-4 missense 0.325 benign 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs529123510 22q11.22 22 22871860A> T null I L 66 66 3.99E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1369537513 22q11.22 22 22871862A> G null I M 66 66 missense 0.078 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1277642148 22q11.22 22 22871861T> C null I T 66 66 missense 0.122 benign 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs529123510 22q11.22 22 22871860A> G null I V 66 66 3.99E-4 missense 0.0 benign 0.41 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,TOPMed,gnomAD rs370762258 22q11.22 22 22871865G> A null M I 67 67 missense 0.895 possibly damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,TOPMed,gnomAD rs370762258 22q11.22 22 22871865G> C null M I 67 67 missense 0.895 possibly damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs549252227 22q11.22 22 22871864T> A null M K 67 67 2.0E-4 missense 0.702 possibly damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs549252227 22q11.22 22 22871864T> G null M R 67 67 2.0E-4 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs549252227 22q11.22 22 22871864T> C null M T 67 67 2.0E-4 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs565986358 22q11.22 22 22871866A> G null K E 68 68 2.0E-4 missense 0.015 benign 0.2 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs746221105 22q11.22 22 22871868G> C null K N 68 68 missense 0.044 benign 0.25 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ESP,ExAC,gnomAD rs375618475 22q11.22 22 22871869G> A null V I 69 69 2.0E-4 missense 0.138 benign 0.16 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ESP,ExAC,gnomAD rs375618475 22q11.22 22 22871869G> C null V L 69 69 2.0E-4 missense 0.052 benign 0.84 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC rs773873983 22q11.22 22 22871872A> G null K E 70 70 missense 0.007 benign 0.5 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,TOPMed,gnomAD rs368393686 22q11.22 22 22871874G> C null K N 70 70 missense 0.001 benign 0.47 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC rs773873983 22q11.22 22 22871872A> C null K Q 70 70 missense 0.011 benign 0.41 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs771719037 22q11.22 22 22871876G> A null S N 71 71 missense 0.085 benign 0.05 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs760448770 22q11.22 22 22871877T> A null S R 71 71 missense 0.184 benign 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs771719037 22q11.22 22 22871876G> C null S T 71 71 missense 0.786 possibly damaging 0.11 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1490955636 22q11.22 22 22871878G> A null D N 72 72 missense 0.343 benign 0.11 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs763064030 22q11.22 22 22871882G> A null G D 73 73 missense 0.46 possibly damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1479270802 22q11.22 22 22871884A> T null S C 74 74 missense 0.836 possibly damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs751718885 22q11.22 22 22871886C> G null S R 74 74 missense 0.079 benign 0.15 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs751718885 22q11.22 22 22871886C> A null S R 74 74 missense 0.079 benign 0.15 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes rs537117187 22q11.22 22 22871885G> C null S T 74 74 2.0E-4 missense 0.012 benign 0.32 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs556802654 22q11.22 22 22871888A> G null H R 75 75 2.0E-4 missense 0.308 benign 0.24 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1419629219 22q11.22 22 22871887C> T null H Y 75 75 missense 0.006 benign 0.77 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs576184724 22q11.22 22 22871890A> T null S C 76 76 2.0E-4 missense 0.852 possibly damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs535662906 22q11.22 22 22871891G> T null S I 76 76 9.98E-4 missense 0.039 benign 0.08 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs535662906 22q11.22 22 22871891G> A null S N 76 76 9.98E-4 missense 0.009 benign 0.38 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs778331609 22q11.22 22 22871892C> G null S R 76 76 missense 0.015 benign 0.2 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,NCI-TCGA,gnomAD rs535662906 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22871891G> C null S T 76 76 9.98E-4 missense 0.015 benign 0.28 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs555631224 22q11.22 22 22871895G> C null K N 77 77 2.0E-4 missense 0.332 benign 0.06 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,NCI-TCGA,gnomAD rs771704349 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22871896G> A null G R 78 78 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs770676922 22q11.22 22 22871903G> A null G E 80 80 missense 0.193 benign 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,TOPMed,gnomAD rs572454259 22q11.22 22 22871902G> A null G R 80 80 2.0E-4 missense 0.184 benign 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1268634659 22q11.22 22 22871905A> T null I F 81 81 missense 0.901 possibly damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,TOPMed,gnomAD rs371121782 22q11.22 22 22871911G> A null D N 83 83 missense 0.009 benign 0.19 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1386507753 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22871914C> T null R C 84 84 missense 0.131 benign 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374625187 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22871915G> A null R H 84 84 missense 0.084 benign 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,TOPMed,gnomAD rs374625187 22q11.22 22 22871915G> C null R P 84 84 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs750662398 22q11.22 22 22871918T> C null F S 85 85 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1383689779 22q11.22 22 22871921T> A null M K 86 86 missense 0.0 benign 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC rs760981215 22q11.22 22 22871920A> G null M V 86 86 missense 0.0 benign 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs766614222 22q11.22 22 22871924G> T null G V 87 87 missense 0.994 probably damaging 0.05 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed rs1324010715 22q11.22 22 22871929A> T null S C 89 89 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367592214 22q11.22 22 22871930G> C null S T 89 89 5.99E-4 missense 0.984 probably damaging 0.32 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs779458054 22q11.22 22 22871932T> G null S A 90 90 missense 0.052 benign 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1385000946 22q11.22 22 22871933C> G null S C 90 90 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs779458054 22q11.22 22 22871932T> C null S P 90 90 missense 0.184 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,TOPMed,gnomAD rs371475053 22q11.22 22 22871935G> A null G R 91 91 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,TOPMed,gnomAD rs371475053 22q11.22 22 22871935G> C null G R 91 91 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs777456766 22q11.22 22 22871938G> A null A T 92 92 missense 0.139 benign 0.36 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,TOPMed rs375927393 22q11.22 22 22871939C> T null A V 92 92 missense 0.054 benign 0.2 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs543870865 22q11.22 22 22871944C> T null R C 94 94 2.0E-4 missense 0.131 benign 0.08 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367987169 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22871945G> A null R H 94 94 5.99E-4 missense 0.084 benign 0.17 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367987169 22q11.22 22 22871945G> T null R L 94 94 5.99E-4 missense 0.741 possibly damaging 0.17 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1244446403 22q11.22 22 22871948A> G null Y C 95 95 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs529056039 22q11.22 22 22871947T> G null Y D 95 95 2.0E-4 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1244446403 22q11.22 22 22871948A> T null Y F 95 95 missense 0.466 possibly damaging 0.16 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs529056039 22q11.22 22 22871947T> C null Y H 95 95 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs529056039 22q11.22 22 22871947T> A null Y N 95 95 2.0E-4 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1383296157 22q11.22 22 22871951T> G null L R 96 96 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs769840864 22q11.22 22 22871950C> G null L V 96 96 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed rs983478590 22q11.22 22 22871953A> G null T A 97 97 missense 0.67 possibly damaging 0.07 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs761963214 22q11.22 22 22871954C> A null T N 97 97 missense 0.876 possibly damaging 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1193344804 22q11.22 22 22871957T> G null F C 98 98 missense 0.419 benign 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1158957285 22q11.22 22 22871956T> C null F L 98 98 missense 0.001 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1383924206 22q11.22 22 22871958C> A null F L 98 98 missense 0.001 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1400349639 22q11.22 22 22871960C> T null S F 99 99 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs771997368 22q11.22 22 22871962A> G null N D 100 100 missense 0.024 benign 0.13 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs771997368 22q11.22 22 22871962A> C null N H 100 100 missense 0.9 possibly damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed rs1470475131 22q11.22 22 22871963A> G null N S 100 100 missense 0.024 benign 0.14 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,gnomAD rs141025913 22q11.22 22 22871965C> T null L F 101 101 2.0E-4 missense 0.768 possibly damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,gnomAD rs141025913 22q11.22 22 22871965C> G null L V 101 101 2.0E-4 missense 0.033 benign 0.24 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed rs1431941786 22q11.22 22 22871970G> C null Q H 102 102 missense 0.173 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,TOPMed,gnomAD rs371756657 22q11.22 22 22871976C> G null D E 104 104 missense 0.0 benign 1.0 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs773374366 22q11.22 22 22871975A> G null D G 104 104 missense 0.091 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs766640848 22q11.22 22 22871977G> C null D H 105 105 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs766640848 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22871977G> A null D N 105 105 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs754142164 22q11.22 22 22871983G> C null A P 107 107 missense 0.267 benign 0.02 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs754142164 22q11.22 22 22871983G> T null A S 107 107 missense 0.807 possibly damaging 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,NCI-TCGA,gnomAD rs754142164 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22871983G> A null A T 107 107 missense 0.387 benign 0.04 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs753246998 22q11.22 22 22871987A> C null E A 108 108 missense 0.236 benign 0.05 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs17851779 22q11.22 22 22871988G> C null E D 108 108 3.99E-4 missense 0.006 benign 1.0 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs753246998 22q11.22 22 22871987A> G null E G 108 108 missense 0.023 benign 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,gnomAD rs375166654 22q11.22 22 22871986G> A null E K 108 108 missense 0.039 benign 0.07 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,NCI-TCGA,gnomAD rs375166654 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22871986G> C null E Q 108 108 missense 0.039 benign 0.07 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,gnomAD rs369551255 22q11.22 22 22871990A> G null Y C 109 109 missense 0.267 benign 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs777105105 22q11.22 22 22871989T> C null Y H 109 109 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs777105105 22q11.22 22 22871989T> A null Y N 109 109 missense 0.936 probably damaging 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,gnomAD rs369551255 22q11.22 22 22871990A> C null Y S 109 109 missense 0.538 possibly damaging 0.01 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1240678776 22q11.22 22 22871994C> A null H Q 110 110 missense 0.175 benign 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed rs1439042361 22q11.22 22 22872003G> C null E D 113 113 missense 0.009 benign 0.16 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1182356349 22q11.22 22 22872002A> G null E G 113 113 missense 0.17 benign 0.09 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed,gnomAD rs1363025233 22q11.22 22 22872005G> A null S N 114 114 missense 0.003 benign 0.38 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,TOPMed,gnomAD rs373802965 22q11.22 22 22872006C> A null S R 114 114 missense 0.152 benign 0.4 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1157303929 22q11.22 22 22872008A> T null H L 115 115 missense 0.32 benign 0.0 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149834282 22q11.22 22 22872011C> A null T K 116 116 0.01258 missense 0.011 benign 0.22 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149834282 22q11.22 22 22872011C> T null T M 116 116 0.01258 missense 0.52 possibly damaging 0.03 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149834282 22q11.22 22 22872011C> G null T R 116 116 0.01258 missense 0.181 benign 0.09 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs551404585 22q11.22 22 22872013A> C null I L 117 117 2.0E-4 missense 0.179 benign 0.27 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,gnomAD rs771057322 22q11.22 22 22872014T> G null I S 117 117 missense 0.03 benign 0.36 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs551404585 22q11.22 22 22872013A> G null I V 117 117 2.0E-4 missense 0.179 benign 0.4 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ExAC,gnomAD rs571197132 22q11.22 22 22872016G> C null D H 118 118 2.0E-4 missense 0.853 possibly damaging 0.05 deleterious 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1226937135 22q11.22 22 22872017A> T null D V 118 118 missense 0.741 possibly damaging 0.11 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370166828 22q11.22 22 22872020G> A null G D 119 119 2.0E-4 missense 0.056 benign 0.07 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1323839824 22q11.22 22 22872019G> A null G S 119 119 missense 0.222 benign 0.06 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed,gnomAD rs1481297151 22q11.22 22 22872025G> A null V I 121 121 missense 0.003 benign 0.26 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 TOPMed,gnomAD rs1481297151 22q11.22 22 22872025G> C null V L 121 121 missense 0.003 benign 0.43 tolerated 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,TOPMed rs372557804 22q11.22 22 22872029G> C null G A 122 122 missense 0.744 possibly damaging 0.06 tolerated - low confidence 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ESP,ExAC,TOPMed rs372557804 22q11.22 22 22872029G> A null G D 122 122 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 ExAC,TOPMed,gnomAD rs764672882 22q11.22 22 22872028G> A null G S 122 122 missense 0.97 probably damaging 0.01 deleterious - low confidence 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1435908269 22q11.22 22 22872031T> G null * G 123 123 stop lost 0 A0A075B6K6 IGLV4-3 Immunoglobulin lambda variable 4-3 gnomAD rs1435908269 22q11.22 22 22872031T> C null * R 123 123 stop lost 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1353288302 7p14.1 7 38291920C> T null G E 2 2 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1353288302 7p14.1 7 38291920C> A null G V 2 2 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1431814868 7p14.1 7 38291918G> A null Q * 3 3 stop gained 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1347170649 7p14.1 7 38291917T> A null Q L 3 3 missense 0.12 benign 0.02 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs998380579 7p14.1 7 38291908T> C null Q R 6 6 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 1000Genomes,ExAC,TOPMed,gnomAD rs1860521 7p14.1 7 38291903C> T null E K 8 8 0.2404 missense 0.185 benign 0.08 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs879637075 7p14.1 7 38291896G> C null S C 10 10 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 Ensembl rs1034346095 7p14.1 7 38291897A> G null S P 10 10 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1349804550 7p14.1 7 38291888T> A null R * 13 13 stop gained 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs971506707 7p14.1 7 38291887C> G null R T 13 13 missense 0.118 benign 0.75 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1187454561 7p14.1 7 38291884G> T null P Q 14 14 missense 0.04 benign 0.47 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1187454561 7p14.1 7 38291884G> C null P R 14 14 missense 0.024 benign 0.4 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1243420451 7p14.1 7 38291882C> G null A P 15 15 missense 0.017 benign 0.11 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs1331772404 7p14.1 7 38291877A> C null N K 16 16 missense 0.003 benign 0.91 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs888541788 7p14.1 7 38291874C> G null K N 17 17 missense 0.787 possibly damaging 0.01 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs756643513 7p14.1 7 38291869G> A null A V 19 19 missense 0.462 possibly damaging 1.0 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1464010703 7p14.1 7 38291866T> C null H R 20 20 missense 0.01 benign 0.61 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1273770589 7p14.1 7 38291864T> C null I V 21 21 missense 0.625 possibly damaging 0.12 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 Ensembl rs1562672636 7p14.1 7 38291860G> C null S C 22 22 missense 0.915 probably damaging 0.17 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1235103591 7p14.1 7 38291857C> T null W * 23 23 stop gained 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1319831954 7p14.1 7 38291856C> A null W C 23 23 missense 0.0 benign 1.0 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs1258265780 7p14.1 7 38291848G> C null S C 26 26 missense 0.982 probably damaging 0.08 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1311815058 7p14.1 7 38291846T> G null I L 27 27 missense 0.029 benign 0.62 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1421563178 7p14.1 7 38291844G> C null I M 27 27 missense 0.722 possibly damaging 0.18 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1311815058 7p14.1 7 38291846T> C null I V 27 27 missense 0.024 benign 1.0 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1026123896 7p14.1 7 38291842T> G null Q P 28 28 missense 0.007 benign 0.27 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1364360209 7p14.1 7 38291840C> T null G S 29 29 missense 0.024 benign 0.43 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1158301951 7p14.1 7 38291839C> A null G V 29 29 missense 0.277 benign 0.17 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1287275597 7p14.1 7 38291833C> T null S N 31 31 missense 0.075 benign 0.53 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1434498498 7p14.1 7 38291828T> C null K E 33 33 missense 0.0 benign 1.0 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1395263934 7p14.1 7 38291823G> C null I M 34 34 missense 0.782 possibly damaging 0.22 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 Ensembl rs994349802 7p14.1 7 38291825T> C null I V 34 34 missense 0.013 benign 0.54 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1048448869 7p14.1 7 38291817G> C null H Q 36 36 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs898653167 7p14.1 7 38291819G> A null H Y 36 36 missense 0.904 possibly damaging 0.1 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 ExAC,TOPMed,gnomAD rs768768125 7p14.1 7 38291814C> T null W * 37 37 stop gained 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 1000Genomes,ExAC,TOPMed,gnomAD rs76807453 7p14.1 7 38291815C> T null W * 37 37 0.07708 stop gained 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 ExAC,TOPMed,gnomAD rs768768125 7p14.1 7 38291814C> G null W C 37 37 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 ExAC,gnomAD rs747962742 7p14.1 7 38291816A> G null W R 37 37 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1007147535 7p14.1 7 38291808C> T null W * 39 39 stop gained 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs1402714212 7p14.1 7 38291809C> A null W L 39 39 missense 0.0 benign 0.12 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1186234999 7p14.1 7 38291803T> C null K R 41 41 missense 0.907 possibly damaging 0.03 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1464137946 7p14.1 7 38291801G> A null P S 42 42 missense 0.868 possibly damaging 0.08 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1464137946 7p14.1 7 38291801G> T null P T 42 42 missense 0.868 possibly damaging 0.07 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1253140169 7p14.1 7 38291792C> A null G C 45 45 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1253140169 7p14.1 7 38291792C> T null G S 45 45 missense 0.13 benign 0.29 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs1303283669 7p14.1 7 38291788A> G null L S 46 46 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 Ensembl rs889486944 7p14.1 7 38291786C> T null E K 47 47 missense 0.398 benign 0.03 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 Ensembl rs1050791658 7p14.1 7 38291779A> G null L S 49 49 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs905011124 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 7p14.1 7 38291776A> C null L * 50 50 stop gained 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1215005206 7p14.1 7 38291774G> A null H Y 51 51 missense 0.0 benign 1.0 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 1000Genomes,gnomAD rs550334674 7p14.1 7 38291770A> G null V A 52 52 2.0E-4 missense 0.81 possibly damaging 0.03 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 1000Genomes,gnomAD rs550334674 7p14.1 7 38291770A> T null V D 52 52 2.0E-4 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1264723928 7p14.1 7 38291764A> G null L S 54 54 missense 0.01 benign 0.86 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs761252021 7p14.1 7 38291762T> A null T S 55 55 missense 0.082 benign 0.16 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs1319753298 7p14.1 7 38291759T> C null I V 56 56 missense 0.015 benign 0.51 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs867458125 7p14.1 7 38291750G> A null Q * 59 59 stop gained 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs1231004263 7p14.1 7 38291746T> A null D V 60 60 missense 0.0 benign 0.31 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 ExAC,TOPMed,gnomAD rs773693549 7p14.1 7 38291743C> A null C F 61 61 missense 0.001 benign 0.14 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1042106441 7p14.1 7 38291744A> C null C G 61 61 missense 0.007 benign 0.43 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1228002070 7p14.1 7 38291740G> A null S L 62 62 missense 0.007 benign 1.0 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs1260256984 7p14.1 7 38291737C> G null G A 63 63 missense 0.972 probably damaging 0.3 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1488967441 7p14.1 7 38291729T> A null T S 66 66 missense 0.001 benign 0.32 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1371979516 7p14.1 7 38291720G> A null L F 69 69 missense 0.034 benign 0.6 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 Ensembl rs770543249 7p14.1 7 38291716T> G null E A 70 70 missense 0.933 probably damaging 0.04 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 ExAC,NCI-TCGA,gnomAD rs780313747 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 38291717C> G null E Q 70 70 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 Ensembl rs2534558 7p14.1 7 38291714C> T null V I 71 71 missense 0.085 benign 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs990731606 7p14.1 7 38291710C> T null S N 72 72 missense 0.58 possibly damaging 0.32 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 1000Genomes,TOPMed,gnomAD rs530504796 7p14.1 7 38291703A> C null N K 74 74 2.0E-4 missense 0.082 benign 0.09 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs1164292252 7p14.1 7 38291695G> A null T I 77 77 missense 0.859 possibly damaging 0.04 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs201148043 7p14.1 7 38291692G> A null S F 78 78 missense 0.541 possibly damaging 0.23 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 ExAC,gnomAD rs756215657 7p14.1 7 38291687A> G null S P 80 80 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs925042446 7p14.1 7 38291680A> C null L W 82 82 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 1000Genomes,ExAC,TOPMed,gnomAD rs1860520 7p14.1 7 38291670C> A null K N 85 85 0.2354 missense 0.0 benign 1.0 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 Ensembl rs866978287 7p14.1 7 38291660T> C null K E 89 89 missense 0.031 benign 0.26 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 Ensembl rs1562672523 7p14.1 7 38291656T> G null E A 90 90 missense 0.664 possibly damaging 0.01 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs1342098073 7p14.1 7 38291647A> C null V G 93 93 missense 0.0 benign 0.17 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 ExAC,gnomAD rs781202023 7p14.1 7 38291639G> T null H N 96 96 missense 0.026 benign 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 gnomAD rs1194963846 7p14.1 7 38291635C> G null C S 97 97 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed,gnomAD rs1220163812 7p14.1 7 38291620C> T null R K 102 102 missense 0.285 benign 1.0 tolerated 0 A0A075B6L2 TRGV11 Probable non-functional T cell receptor gamma variable 11 TOPMed rs1322020517 7p14.1 7 38291618G> A null H Y 103 103 missense 0.363 benign 0.0 deleterious - low confidence 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs749939471 7q34 7 142384383G> C null G A 2 2 missense 0.255 benign 0.21 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 Ensembl rs1004272098 7q34 7 142384382G> T null G C 2 2 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs761440534 7q34 7 142384386C> T null T I 3 3 missense 0.337 benign 0.06 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs767078024 7q34 7 142384385A> C null T P 3 3 missense 0.137 benign 0.04 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1289022756 7q34 7 142384389G> A null R K 4 4 missense 0.175 benign 0.36 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10265119 7q34 7 142384390G> C null R S 4 4 0.09185 missense 0.341 benign 0.17 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10265119 7q34 7 142384390G> T null R S 4 4 0.09185 missense 0.341 benign 0.17 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs775425182 7q34 7 142384391C> T null L F 5 5 missense 0.11 benign 0.08 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ExAC,TOPMed,gnomAD rs575564328 7q34 7 142384398G> T null C F 7 7 2.0E-4 missense 0.062 benign 0.04 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs772095215 7q34 7 142384400T> C null W R 8 8 missense 0.942 probably damaging 0.01 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 Ensembl rs867822813 7q34 7 142384403G> A null A T 9 9 missense 0.296 benign 0.03 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs748246110 7q34 7 142384404C> T null A V 9 9 missense 0.005 benign 1.0 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC rs768961343 7q34 7 142384410T> A null L Q 11 11 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs780525277 7q34 7 142384419T> C null L P 14 14 missense 0.91 probably damaging 0.01 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 Ensembl rs751002331 7q34 7 142384422G> A null G E 15 15 missense 0.423 benign 0.08 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1296711825 7q34 7 142384421G> A null G R 15 15 missense 0.423 benign 0.05 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1296711825 7q34 7 142384421G> C null G R 15 15 missense 0.423 benign 0.05 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs756560948 7q34 7 142384424G> T null A S 16 16 missense 0.337 benign 0.06 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 Ensembl rs1256040654 7q34 7 142384545T> A null D E 17 17 missense 0.001 benign 1.0 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs756806591 7q34 7 142384427G> A null D N 17 17 missense 0.005 benign 0.29 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs756806591 7q34 7 142384427G> T null D Y 17 17 missense 0.02 benign 0.03 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 Ensembl rs796534969 7q34 7 142384553G> A null G D 20 20 missense 0.003 benign 1.0 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed rs796872305 7q34 7 142384555G> T null A S 21 21 missense 0.606 possibly damaging 0.06 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed rs796872305 7q34 7 142384555G> A null A T 21 21 missense 0.455 possibly damaging 0.08 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed rs1173351540 7q34 7 142384558G> A null G R 22 22 missense 0.749 possibly damaging 0.03 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 Ensembl rs1563013287 7q34 7 142384562T> G null V G 23 23 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1208741328 7q34 7 142384561G> C null V L 23 23 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs770179290 7q34 7 142384567C> T null Q * 25 25 stop gained 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs530792129 7q34 7 142384571C> A null T N 26 26 missense 0.03 benign 0.14 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs374995027 7q34 7 142384570A> T null T S 26 26 missense 0.006 benign 1.0 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1338060639 7q34 7 142384573C> T null P S 27 27 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1338060639 7q34 7 142384573C> A null P T 27 27 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 Ensembl rs1563013316 7q34 7 142384576A> G null S G 28 28 missense 0.007 benign 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs757880193 7q34 7 142384577G> C null S T 28 28 missense 0.035 benign 0.05 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs747664179 7q34 7 142384583A> C null K T 30 30 missense 0.194 benign 0.08 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1167169875 7q34 7 142384586T> G null V G 31 31 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC rs778509487 7q34 7 142384598G> A null G E 35 35 missense 0.662 possibly damaging 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ExAC,TOPMed,gnomAD rs361359 7q34 7 142384603G> T null D Y 37 37 0.2095 missense 0.007 benign 0.04 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs766105677 7q34 7 142384616G> A null R K 41 41 missense 0.031 benign 0.26 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs766105677 7q34 7 142384616G> T null R M 41 41 missense 0.92 probably damaging 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1364340969 7q34 7 142384617G> T null R S 41 41 missense 0.09 benign 0.19 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs766105677 7q34 7 142384616G> C null R T 41 41 missense 0.051 benign 0.21 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1198019669 7q34 7 142384619G> T null C F 42 42 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1198019669 7q34 7 142384619G> C null C S 42 42 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs750334696 7q34 7 142384622A> G null D G 43 43 missense 0.103 benign 0.01 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs755866289 7q34 7 142384621G> A null D N 43 43 missense 0.103 benign 0.04 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs767403862 7q34 7 142384628T> C null I T 45 45 missense 0.496 possibly damaging 0.01 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1213767409 7q34 7 142384627A> G null I V 45 45 missense 0.047 benign 0.21 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed rs1315822498 7q34 7 142384633G> T null G C 47 47 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376615434 7q34 7 142384634G> T null G V 47 47 0.001597 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ESP,ExAC,TOPMed,gnomAD rs373478971 7q34 7 142384637A> C null H P 48 48 missense 0.82 possibly damaging 0.01 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed rs1378033647 7q34 7 142384639A> G null T A 49 49 missense 0.0 benign 0.79 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369017365 7q34 7 142384640C> T null T I 49 49 0.002596 missense 0.003 benign 0.19 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1233223577 7q34 7 142384645C> T null L F 51 51 missense 0.397 benign 0.11 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed rs1449558655 7q34 7 142384649A> G null Y C 52 52 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1328088896 7q34 7 142384657C> T null R * 55 55 stop gained 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1328088896 7q34 7 142384657C> G null R G 55 55 missense 0.312 benign 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ESP,ExAC,TOPMed,gnomAD rs376499939 7q34 7 142384658G> A null R Q 55 55 missense 0.175 benign 0.26 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs771282641 7q34 7 142384660C> A null Q K 56 56 missense 0.56 possibly damaging 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs909693387 7q34 7 142384664G> A null S N 57 57 missense 0.003 benign 0.15 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs773750639 7q34 7 142384665C> G null S R 57 57 missense 0.005 benign 0.03 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1171745442 7q34 7 142384667T> C null L P 58 58 missense 0.018 benign 0.34 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ESP,ExAC,TOPMed,gnomAD rs371743471 7q34 7 142384670G> A null G E 59 59 missense 0.061 benign 0.63 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1193727322 7q34 7 142384676G> T null G V 61 61 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs747655381 7q34 7 142384679C> T null P L 62 62 missense 0.001 benign 1.0 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed rs1429287848 7q34 7 142384678C> T null P S 62 62 missense 0.034 benign 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs754498825 7q34 7 142384683G> T null E D 63 63 missense 0.257 benign 0.01 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1217435359 7q34 7 142384681G> C null E Q 63 63 missense 0.389 benign 0.05 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1200242135 7q34 7 142384688T> C null L P 65 65 missense 0.798 possibly damaging 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs779713752 7q34 7 142384691T> C null I T 66 66 missense 0.021 benign 0.36 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs755915278 7q34 7 142384694A> T null Y F 67 67 missense 0.097 benign 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ESP,ExAC,TOPMed,gnomAD rs367966743 7q34 7 142384696T> C null F L 68 68 missense 0.324 benign 0.11 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1364482626 7q34 7 142384702G> A null G S 70 70 missense 0.006 benign 0.16 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1433199614 7q34 7 142384705A> G null T A 71 71 missense 0.015 benign 0.14 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ESP,ExAC,TOPMed,gnomAD rs372238877 7q34 7 142384706C> A null T K 71 71 missense 0.0 benign 0.76 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ESP,ExAC,TOPMed,gnomAD rs372238877 7q34 7 142384706C> T null T M 71 71 missense 0.039 benign 0.04 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ESP,ExAC,TOPMed,gnomAD rs372238877 7q34 7 142384706C> G null T R 71 71 missense 0.001 benign 0.23 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs766562973 7q34 7 142384708G> A null G S 72 72 missense 0.003 benign 0.76 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs761073245 7q34 7 142384712C> T null A V 73 73 missense 0.006 benign 0.34 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs773893638 7q34 7 142384714G> C null A P 74 74 missense 0.003 benign 0.38 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs773893638 7q34 7 142384714G> A null A T 74 74 missense 0.005 benign 0.42 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs748818661 7q34 7 142384722C> A null D E 76 76 missense 0.012 benign 0.42 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs768116180 7q34 7 142384720G> A null D N 76 76 missense 0.02 benign 0.17 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs779725302 7q34 7 142384726G> C null G R 78 78 missense 0.137 benign 0.04 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs745661819 7q34 7 142384732C> T null P S 80 80 missense 0.173 benign 0.09 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs361360 7q34 7 142384737A> T null K N 81 81 0.2095 missense 0.013 benign 0.24 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs361360 7q34 7 142384737A> C null K N 81 81 0.2095 missense 0.013 benign 0.24 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs759011589 7q34 7 142384736A> G null K R 81 81 missense 0.019 benign 0.1 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1342030426 7q34 7 142384738G> C null D H 82 82 missense 0.106 benign 0.01 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1342030426 7q34 7 142384738G> T null D Y 82 82 missense 0.809 possibly damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed rs1271512239 7q34 7 142384741C> G null R G 83 83 missense 0.443 benign 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs755090118 7q34 7 142384742G> T null R L 83 83 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs755090118 7q34 7 142384742G> C null R P 83 83 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs755090118 7q34 7 142384742G> A null R Q 83 83 missense 0.506 possibly damaging 0.03 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed rs1271512239 7q34 7 142384741C> T null R W 83 83 missense 0.647 possibly damaging 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs760704057 7q34 7 142384748T> C null F S 85 85 missense 0.0 benign 1.0 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 gnomAD rs1283749608 7q34 7 142384750G> T null A S 86 86 missense 0.701 possibly damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs745593183 7q34 7 142384754T> C null V A 87 87 missense 0.001 benign 0.1 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs745593183 7q34 7 142384754T> A null V D 87 87 missense 0.0 benign 0.04 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed rs1034770852 7q34 7 142384756A> G null R G 88 88 missense 0.854 possibly damaging 0.03 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs774790677 7q34 7 142384758G> T null R S 88 88 missense 0.808 possibly damaging 0.04 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs757506332 7q34 7 142384759C> A null P T 89 89 missense 0.052 benign 0.21 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs762444744 7q34 7 142384763A> G null E G 90 90 missense 0.012 benign 0.28 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs267601331 7q34 7 142384766G> A null G E 91 91 missense 0.097 benign 0.09 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs774920121 7q34 7 142384765G> A null G R 91 91 missense 0.097 benign 0.05 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs780926091 7q34 7 142384771G> T null V F 93 93 missense 0.0 benign 0.95 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs780926091 7q34 7 142384771G> A null V I 93 93 missense 0.003 benign 0.35 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs746845111 7q34 7 142384783A> G null K E 97 97 missense 0.11 benign 0.08 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs746845111 7q34 7 142384783A> C null K Q 97 97 missense 0.392 benign 0.05 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs768749179 7q34 7 142384784A> C null K T 97 97 missense 0.11 benign 0.06 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs755257776 7q34 7 142384788C> G null I M 98 98 missense 0.926 probably damaging 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs753943129 7q34 7 142384792C> T null R C 100 100 missense 0.013 benign 0.01 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ESP,ExAC,TOPMed,gnomAD rs375427454 7q34 7 142384793G> A null R H 100 100 missense 0.0 benign 0.18 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs750573526 7q34 7 142384798G> C null E Q 102 102 missense 0.044 benign 0.3 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148414124 7q34 7 142384799A> T null E V 102 102 0.001797 missense 0.158 benign 0.05 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ESP,ExAC,TOPMed,gnomAD rs368916180 7q34 7 142384801C> T null Q * 103 103 stop gained 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs361361 7q34 7 142384802A> C null Q P 103 103 0.2095 missense 0.003 benign 0.31 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs361361 7q34 7 142384802A> G null Q R 103 103 0.2095 missense 0.012 benign 0.83 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs764610680 7q34 7 142384805G> A null G E 104 104 missense 0.047 benign 0.47 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed,gnomAD rs764610680 7q34 7 142384805G> T null G V 104 104 missense 0.918 probably damaging 0.05 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs361362 7q34 7 142384807G> C null D H 105 105 0.04353 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs361362 7q34 7 142384807G> A null D N 105 105 0.04353 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs361362 7q34 7 142384807G> T null D Y 105 105 0.04353 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC rs770751533 7q34 7 142384811C> A null S * 106 106 stop gained 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,TOPMed rs773201435 7q34 7 142384814C> A null A D 107 107 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs361364 7q34 7 142384817C> G null A G 108 108 0.1176 missense 0.003 benign 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 Ensembl rs386718719 7q34 7 142384816_142384817delinsA T null A M 108 108 missense 0.0 benign 0.34 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs361363 7q34 7 142384816G> A null A T 108 108 0.03055 missense 0.0 benign 0.27 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs361364 7q34 7 142384817C> T null A V 108 108 0.1176 missense 0.0 benign 1.0 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1481232395 7q34 7 142384822C> T null L F 110 110 missense 0.142 benign 0.33 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 TOPMed,gnomAD rs1481232395 7q34 7 142384822C> A null L I 110 110 missense 0.569 possibly damaging 0.02 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ESP,ExAC,TOPMed,gnomAD rs371036763 7q34 7 142384823T> C null L P 110 110 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs361365 7q34 7 142384825C> T null R C 111 111 0.2095 missense 0.0 benign 1.0 tolerated 0 A0A075B6L6 TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 ExAC,gnomAD rs757533059 7q34 7 142384828G> T null A S 112 112 missense 0.897 possibly damaging 0.05 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 NCI-TCGA rs375953149 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 7q34 7 142619057A> G null M ? 1 1 - 0.953 probably damaging 0.02 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 Ensembl rs868137257 7q34 7 142619070T> C null V A 5 5 missense 0.345 benign 0.04 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs774171066 7q34 7 142619073T> C null L P 6 6 missense 0.698 possibly damaging 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs1047481325 7q34 7 142619078T> C null C R 8 8 missense 0.466 possibly damaging 0.09 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs761870394 7q34 7 142619085T> C null V A 10 10 missense 0.0 benign 1.0 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs899790548 7q34 7 142619084G> T null V F 10 10 missense 0.052 benign 0.09 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed rs1327166183 7q34 7 142619090T> C null C R 12 12 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs767352828 7q34 7 142619092T> G null C W 12 12 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17260 7q34 7 142619093C> T null L F 13 13 0.4259 missense 0.068 benign 0.23 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed rs1394855276 7q34 7 142619099G> C null G R 15 15 missense 0.099 benign 0.43 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed rs1394855276 7q34 7 142619099G> A null G R 15 15 missense 0.099 benign 0.43 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 1000Genomes rs570054963 7q34 7 142619103C> G null A G 16 16 2.0E-4 missense 0.366 benign 0.03 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1345095665 7q34 7 142619102G> A null A T 16 16 missense 0.015 benign 0.21 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1171581306 7q34 7 142619238A> G null N S 17 17 missense 0.015 benign 0.02 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs773092682 7q34 7 142619241C> T null T I 18 18 missense 0.121 benign 0.39 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed rs1396803300 7q34 7 142619244T> C null V A 19 19 missense 0.003 benign 0.17 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,NCI-TCGA,TOPMed,gnomAD rs766103666 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142619243G> A null V M 19 19 missense 0.009 benign 0.74 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed rs1459424317 7q34 7 142619253G> A null G E 22 22 missense 0.013 benign 0.21 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200808082 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142619252G> A null G R 22 22 missense 0.031 benign 0.18 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ESP,ExAC,TOPMed,gnomAD rs372253307 7q34 7 142619261C> T null Q * 25 25 stop gained 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs752297744 7q34 7 142619262A> G null Q R 25 25 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 Ensembl rs908348079 7q34 7 142619265C> A null S Y 26 26 missense 0.321 benign 0.02 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed rs1041099955 7q34 7 142619271A> C null K T 28 28 missense 0.83 possibly damaging 0.03 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1384595914 7q34 7 142619274A> C null Y S 29 29 missense 0.59 possibly damaging 0.13 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs752049643 7q34 7 142619277T> C null L P 30 30 missense 0.995 probably damaging 0.2 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs757713340 7q34 7 142619285A> G null K E 33 33 missense 0.001 benign 0.75 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ESP,ExAC,TOPMed,gnomAD rs369595214 7q34 7 142619292G> C null G A 35 35 missense 0.651 possibly damaging 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ESP,ExAC,TOPMed,gnomAD rs369595214 7q34 7 142619292G> A null G E 35 35 missense 0.822 possibly damaging 0.08 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 Ensembl rs760063358 7q34 7 142619297A> G null N D 37 37 missense 0.0 benign 0.14 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs907595087 7q34 7 142619298A> G null N S 37 37 missense 0.053 benign 0.49 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs932677754 7q34 7 142619300G> A null V M 38 38 missense 0.955 probably damaging 0.28 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1226700083 7q34 7 142619304C> A null T N 39 39 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs767051056 7q34 7 142619307T> C null L P 40 40 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs767051056 7q34 7 142619307T> G null L R 40 40 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1231028048 7q34 7 142619310G> A null S N 41 41 missense 0.033 benign 0.17 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs780118965 7q34 7 142619311T> A null S R 41 41 missense 0.053 benign 0.5 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ESP,ExAC,TOPMed,gnomAD rs372321937 7q34 7 142619309A> C null S R 41 41 missense 0.053 benign 0.5 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1203328613 7q34 7 142619318C> G null Q E 44 44 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ESP,ExAC,TOPMed,gnomAD rs375356152 7q34 7 142619329C> A null N K 47 47 missense 0.173 benign 0.1 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs1220247173 7q34 7 142619327A> T null N Y 47 47 missense 0.742 possibly damaging 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369379997 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142619333G> A null D N 49 49 missense 0.05 benign 0.46 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1242420422 7q34 7 142619336G> A null A T 50 50 missense 0.019 benign 0.35 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs747002961 7q34 7 142619340T> G null M R 51 51 missense 0.862 possibly damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs770846283 7q34 7 142619351C> T null R * 55 55 stop gained 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372708256 7q34 7 142619352G> A null R Q 55 55 5.99E-4 missense 0.141 benign 0.05 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1266668768 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142619359C> G null D E 57 57 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs1361181515 7q34 7 142619370G> A null G E 61 61 missense 0.799 possibly damaging 0.12 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs935138396 7q34 7 142619369G> A null G R 61 61 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs774969140 7q34 7 142619372C> G null L V 62 62 missense 0.783 possibly damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ESP,ExAC,TOPMed,gnomAD rs377012137 7q34 7 142619376G> A null R K 63 63 missense 0.022 benign 0.2 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 Ensembl rs1563177706 7q34 7 142619387T> A null Y N 67 67 missense 0.325 benign 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 Ensembl rs906663151 7q34 7 142619391C> T null S L 68 68 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed rs1224671756 7q34 7 142619393C> T null Q * 69 69 stop gained 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76454382 7q34 7 142619395G> C null Q H 69 69 0.01877 missense 0.443 benign 0.46 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs753524371 7q34 7 142619398A> G null I M 70 70 missense 0.063 benign 0.06 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs750850272 7q34 7 142619397T> C null I T 70 70 missense 0.0 benign 0.23 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs780326957 7q34 7 142619403A> G null N S 72 72 missense 0.007 benign 0.26 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed rs1231680875 7q34 7 142619402A> T null N Y 72 72 missense 0.346 benign 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1464984339 7q34 7 142619405G> T null D Y 73 73 missense 0.855 possibly damaging 0.99 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1190362951 7q34 7 142619412A> T null Q L 75 75 missense 0.73 possibly damaging 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1474955058 7q34 7 142619418G> C null G A 77 77 missense 0.181 benign 0.02 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs749412798 7q34 7 142619417G> C null G R 77 77 missense 0.181 benign 0.02 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1012564888 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142619420G> T null D Y 78 78 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs755178943 7q34 7 142619424T> C null I T 79 79 missense 0.003 benign 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1468476811 7q34 7 142619426G> T null A S 80 80 missense 0.011 benign 0.36 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1176003348 7q34 7 142619432G> A null G R 82 82 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed rs1369813550 7q34 7 142619435T> C null Y H 83 83 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs543088879 7q34 7 142619438A> G null S G 84 84 missense 0.121 benign 0.02 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371076167 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142619441G> A null V I 85 85 2.0E-4 missense 0.172 benign 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371076167 7q34 7 142619441G> C null V L 85 85 2.0E-4 missense 0.203 benign 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs770901336 7q34 7 142619444T> G null S A 86 86 missense 0.554 possibly damaging 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs770901336 7q34 7 142619444T> C null S P 86 86 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs769411579 7q34 7 142619448G> A null R Q 87 87 missense 0.643 possibly damaging 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,NCI-TCGA,TOPMed,gnomAD rs78434792 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142619447C> T null R W 87 87 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1221265700 7q34 7 142619451A> G null E G 88 88 missense 0.006 benign 0.25 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs1194888218 7q34 7 142619450G> A null E K 88 88 missense 0.011 benign 0.81 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 Ensembl rs775458959 7q34 7 142619454A> G null K R 89 89 missense 0.007 benign 0.26 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs762046255 7q34 7 142619466T> C null F S 93 93 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs1329174243 7q34 7 142619468C> T null P S 94 94 missense 0.022 benign 0.33 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs775226215 7q34 7 142619471C> T null L F 95 95 missense 0.275 benign 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1282064901 7q34 7 142619475C> T null T I 96 96 missense 0.382 benign 0.24 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs1015849140 7q34 7 142619478T> C null V A 97 97 missense 0.654 possibly damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,NCI-TCGA,TOPMed,gnomAD rs763835129 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142619484C> T null S L 99 99 missense 0.009 benign 0.06 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs763835129 7q34 7 142619484C> G null S W 99 99 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs761386988 7q34 7 142619487C> A null A D 100 100 missense 0.79 possibly damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs761386988 7q34 7 142619487C> T null A V 100 100 missense 0.249 benign 0.04 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs1473605831 7q34 7 142619497C> G null N K 103 103 missense 0.047 benign 0.04 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,NCI-TCGA,TOPMed,gnomAD rs750828059 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142619499C> T null P L 104 104 missense 0.054 benign 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,TOPMed,gnomAD rs750828059 7q34 7 142619499C> G null P R 104 104 missense 0.066 benign 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ESP,ExAC,TOPMed,gnomAD rs375094911 7q34 7 142619504G> A null A T 106 106 missense 0.117 benign 0.02 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 Ensembl rs867396828 7q34 7 142619513C> T null L F 109 109 missense 0.998 probably damaging 1.0 tolerated 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed rs1310807654 7q34 7 142619516T> C null C R 110 110 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs779082053 7q34 7 142619525A> G null S G 113 113 missense 0.451 possibly damaging 0.0 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 TOPMed,gnomAD rs1302402683 7q34 7 142619527T> G null S R 113 113 missense 0.801 possibly damaging 0.01 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 gnomAD rs1350803784 7q34 7 142619526G> C null S T 113 113 missense 0.534 possibly damaging 0.03 deleterious 0 A0A075B6N1 TRBV19 T cell receptor beta variable 19 ExAC,gnomAD rs752793126 7q34 7 142619528A> G null I V 114 114 missense 0.0 benign 0.59 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 1000Genomes,ExAC,gnomAD rs540740178 7q34 7 142626743T> C null L P 6 6 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs749120691 7q34 7 142626745C> T null L F 7 7 missense 0.31 benign 0.07 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs768533267 7q34 7 142626746T> A null L H 7 7 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed rs1419352637 7q34 7 142626755C> T null P L 10 10 missense 0.751 possibly damaging 0.17 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1244610021 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142626754C> T null P S 10 10 missense 0.667 possibly damaging 0.22 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1460794051 7q34 7 142626757G> C null G R 11 11 missense 0.04 benign 0.07 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs763355141 7q34 7 142627099C> G null S C 12 12 missense 0.007 benign 0.07 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ESP,ExAC,TOPMed,gnomAD rs370085730 7q34 7 142627101G> A null G R 13 13 missense 0.327 benign 0.18 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs749261906 7q34 7 142627108G> A null G D 15 15 missense 0.058 benign 0.1 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs761805446 7q34 7 142627116G> A null V I 18 18 missense 0.721 possibly damaging 0.43 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs761805446 7q34 7 142627116G> C null V L 18 18 missense 0.926 probably damaging 0.18 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1391102830 7q34 7 142627120C> G null S C 19 19 missense 0.871 possibly damaging 0.02 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1406562017 7q34 7 142627129C> T null P L 22 22 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17210 7q34 7 142627134A> G null R G 24 24 0.4271 missense 0.082 benign 0.03 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17210 7q34 7 142627134A> T null R W 24 24 0.4271 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed,gnomAD rs879347221 7q34 7 142627143T> G null C G 27 27 missense 0.52 possibly damaging 0.11 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs765243579 7q34 7 142627149A> C null S R 29 29 missense 0.015 benign 0.71 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs752452785 7q34 7 142627150G> C null S T 29 29 missense 0.027 benign 0.43 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs758168267 7q34 7 142627153G> C null G A 30 30 missense 0.937 probably damaging 0.01 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs758168267 7q34 7 142627153G> A null G E 30 30 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed rs1421433415 7q34 7 142627152G> A null G R 30 30 missense 0.399 benign 0.04 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed rs1418619797 7q34 7 142627155A> G null T A 31 31 missense 0.017 benign 0.31 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 1000Genomes,ExAC,gnomAD rs544649528 7q34 7 142627156C> T null T I 31 31 3.99E-4 missense 0.775 possibly damaging 0.02 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 1000Genomes,ExAC,gnomAD rs544649528 7q34 7 142627156C> A null T N 31 31 3.99E-4 missense 0.716 possibly damaging 0.05 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1182473221 7q34 7 142627164A> T null K * 34 34 stop gained 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed rs745355044 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142627170G> A null E K 36 36 missense 0.242 benign 0.2 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed rs745355044 7q34 7 142627170G> C null E Q 36 36 missense 0.05 benign 1.0 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,NCI-TCGA,TOPMed,gnomAD rs775927633 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142627177G> A null R H 38 38 missense 0.011 benign 0.57 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1426315455 7q34 7 142627179T> C null S P 39 39 missense 0.003 benign 0.25 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs749648161 7q34 7 142627190T> G null F L 42 42 missense 0.007 benign 0.64 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs769000413 7q34 7 142627192A> G null Q R 43 43 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed rs1293354315 7q34 7 142627195C> T null A V 44 44 missense 0.817 possibly damaging 1.0 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs374814604 7q34 7 142627197A> G null T A 45 45 missense 0.137 benign 0.5 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed rs1034423193 7q34 7 142627198C> T null T I 45 45 missense 0.037 benign 0.13 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1390950667 7q34 7 142627200A> G null T A 46 46 missense 0.111 benign 0.49 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs762160335 7q34 7 142627201C> T null T I 46 46 missense 0.907 possibly damaging 0.37 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs772391888 7q34 7 142627206T> C null F L 48 48 missense 0.022 benign 0.3 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs760783607 7q34 7 142627210G> T null W L 49 49 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ESP,ExAC,TOPMed,gnomAD rs374846701 7q34 7 142627209T> C null W R 49 49 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,NCI-TCGA,TOPMed,gnomAD rs765292799 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142627216G> A null R H 51 51 missense 0.028 benign 0.21 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201903499 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142627225C> T null P L 54 54 missense 0.147 benign 0.04 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ESP,ExAC,TOPMed,gnomAD rs201903499 7q34 7 142627225C> G null P R 54 54 missense 0.231 benign 0.04 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1204701494 7q34 7 142627224C> T null P S 54 54 missense 0.755 possibly damaging 0.01 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs751310941 7q34 7 142627232G> C null Q H 56 56 missense 0.17 benign 0.04 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 1000Genomes,ESP,TOPMed,gnomAD rs17211 7q34 7 142627230C> A null Q K 56 56 0.1226 missense 0.134 benign 0.04 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1256735042 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142627234G> A null S N 57 57 missense 0.415 benign 0.4 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs780804113 7q34 7 142627241G> A null M I 59 59 missense 0.0 benign 0.39 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs756946542 7q34 7 142627240T> G null M R 59 59 missense 0.131 benign 0.04 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1161618883 7q34 7 142627247G> A null M I 61 61 missense 0.013 benign 1.0 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs755581253 7q34 7 142627249C> A null A E 62 62 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs749958807 7q34 7 142627248G> A null A T 62 62 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs780544502 7q34 7 142627252C> T null T I 63 63 missense 0.421 benign 0.13 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 Ensembl rs267601344 7q34 7 142627255C> T null S F 64 64 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 1000Genomes,ExAC,TOPMed,gnomAD rs543328336 7q34 7 142627258A> G null N S 65 65 3.99E-4 missense 0.391 benign 0.2 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC rs748438706 7q34 7 142627264G> T null G V 67 67 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed rs1471470128 7q34 7 142627273C> T null A V 70 70 missense 0.003 benign 0.2 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed rs1251517470 7q34 7 142627276C> G null T R 71 71 missense 0.641 possibly damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs773524571 7q34 7 142627280C> A null Y * 72 72 stop gained 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs773524571 7q34 7 142627280C> G null Y * 72 72 stop gained 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs772445143 7q34 7 142627278T> C null Y H 72 72 missense 0.259 benign 0.06 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs760838590 7q34 7 142627283G> T null E D 73 73 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1274675032 7q34 7 142627284C> T null Q * 74 74 stop gained 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1274675032 7q34 7 142627284C> G null Q E 74 74 missense 0.077 benign 0.34 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs771074290 7q34 7 142627285A> G null Q R 74 74 missense 0.111 benign 0.13 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,NCI-TCGA,gnomAD rs763017115 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142627290G> A null V I 76 76 missense 0.003 benign 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs761547091 7q34 7 142627301C> G null D E 79 79 missense 0.0 benign 1.0 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ESP,ExAC,TOPMed,gnomAD rs368782926 7q34 7 142627300A> G null D G 79 79 missense 0.058 benign 0.32 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 1000Genomes,ExAC,TOPMed,gnomAD rs561400460 7q34 7 142627299G> A null D N 79 79 2.0E-4 missense 0.117 benign 0.44 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs767189752 7q34 7 142627306T> G null F C 81 81 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed rs936382995 7q34 7 142627305T> G null F V 81 81 missense 0.462 possibly damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1188090167 7q34 7 142627309T> C null L P 82 82 missense 0.0 benign 1.0 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed rs1375533719 7q34 7 142627313C> G null I M 83 83 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs750012197 7q34 7 142627317C> A null H N 85 85 missense 0.866 possibly damaging 0.06 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs750012197 7q34 7 142627317C> T null H Y 85 85 missense 0.158 benign 0.1 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs755636311 7q34 7 142627320G> T null A S 86 86 missense 0.001 benign 0.01 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 Ensembl rs544244618 7q34 7 142627323A> G null S G 87 87 missense 0.015 benign 0.01 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1408301696 7q34 7 142627324G> T null S I 87 87 missense 0.134 benign 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs779680110 7q34 7 142627325C> A null S R 87 87 missense 0.037 benign 0.01 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1390110252 7q34 7 142627330C> G null T S 89 89 missense 0.301 benign 0.16 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 1000Genomes,ExAC,NCI-TCGA,gnomAD rs540822230 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142627336C> T null S F 91 91 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ESP,TOPMed,gnomAD rs374437937 7q34 7 142627338A> G null T A 92 92 missense 0.006 benign 0.14 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1213585235 7q34 7 142627339C> T null T I 92 92 missense 0.406 benign 0.13 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1325055571 7q34 7 142627342T> G null L R 93 93 missense 0.479 possibly damaging 0.03 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 1000Genomes,ExAC,TOPMed,gnomAD rs565428913 7q34 7 142627350A> G null T A 96 96 7.99E-4 missense 0.647 possibly damaging 0.12 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed,gnomAD rs201006003 7q34 7 142627360A> T null H L 99 99 missense 0.32 benign 0.3 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed,gnomAD rs201006003 7q34 7 142627360A> G null H R 99 99 missense 0.012 benign 0.57 tolerated 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 Ensembl rs267601345 7q34 7 142627363C> T null P L 100 100 missense 0.36 benign 0.03 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs747290451 7q34 7 142627370C> A null D E 102 102 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1200338680 7q34 7 142627368G> A null D N 102 102 missense 0.569 possibly damaging 0.04 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 TOPMed rs1255307247 7q34 7 142627372G> A null S N 103 103 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs771276859 7q34 7 142627380T> G null Y D 106 106 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs771276859 7q34 7 142627380T> C null Y H 106 106 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,TOPMed,gnomAD rs776815572 7q34 7 142627381A> C null Y S 106 106 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs745917044 7q34 7 142627383A> G null I V 107 107 missense 0.061 benign 0.01 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 ExAC,gnomAD rs768665198 7q34 7 142627386T> G null C G 108 108 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1344908521 7q34 7 142627390G> A null S N 109 109 missense 0.496 possibly damaging 0.03 deleterious 0 A0A075B6N2 TRBV20-1 T cell receptor beta variable 20-1 gnomAD rs1437701694 7q34 7 142627396_142627397insGAGTGGCTGTCAGCCATCCTAGCGGCGGTTGTGAGGTCTTAAC T null * S 112 112 stop gained 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs750798854 7q34 7 142656741C> G null A G 2 2 missense 0.003 benign 1.0 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs750798854 7q34 7 142656741C> T null A V 2 2 missense 0.527 possibly damaging 0.15 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1486079533 7q34 7 142656761G> A null G R 9 9 missense 0.074 benign 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed rs1228224678 7q34 7 142656762G> T null G V 9 9 missense 0.0 benign 1.0 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1486079533 7q34 7 142656761G> T null G W 9 9 missense 0.383 benign 0.02 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed,gnomAD rs1421836971 7q34 7 142656765C> A null A D 10 10 missense 0.647 possibly damaging 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed,gnomAD rs1421836971 7q34 7 142656765C> T null A V 10 10 missense 0.031 benign 0.33 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,TOPMed,gnomAD rs780888561 7q34 7 142656769T> G null F L 11 11 missense 0.038 benign 0.97 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,TOPMed,gnomAD rs745655944 7q34 7 142656771A> G null Y C 12 12 missense 0.0 benign 1.0 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,TOPMed,gnomAD rs745655944 7q34 7 142656771A> T null Y F 12 12 missense 0.003 benign 0.11 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1177302872 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142656770T> C null Y H 12 12 missense 0.02 benign 0.04 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ESP,ExAC,TOPMed,gnomAD rs201676343 7q34 7 142656773C> T null L F 13 13 missense 0.164 benign 0.2 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ESP,ExAC,TOPMed,gnomAD rs201676343 7q34 7 142656773C> G null L V 13 13 missense 0.721 possibly damaging 0.07 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1334092842 7q34 7 142656780G> A null G E 15 15 missense 0.233 benign 0.41 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed,gnomAD rs966755150 7q34 7 142656783C> T null T I 16 16 missense 0.061 benign 0.03 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs752790200 7q34 7 142656920T> C null S P 18 18 missense 0.006 benign 0.39 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs757189098 7q34 7 142656923A> C null M L 19 19 missense 0.011 benign 0.22 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs757189098 7q34 7 142656923A> T null M L 19 19 missense 0.011 benign 0.22 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1374028260 7q34 7 142656924T> G null M R 19 19 missense 0.476 possibly damaging 0.09 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed rs933701500 7q34 7 142656928T> G null D E 20 20 missense 0.101 benign 0.43 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1283566139 7q34 7 142656933A> T null D V 22 22 missense 0.022 benign 0.09 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,NCI-TCGA,gnomAD rs745682141 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142656936T> C null V A 23 23 missense 0.841 possibly damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed rs1051195022 7q34 7 142656939C> A null T N 24 24 missense 0.331 benign 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs749009692 7q34 7 142656943G> C null Q H 25 25 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1449937710 7q34 7 142656948C> A null P Q 27 27 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1198299765 7q34 7 142656950A> G null R G 28 28 missense 0.222 benign 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs768421535 7q34 7 142656956A> T null R W 30 30 missense 0.525 possibly damaging 0.19 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,TOPMed,gnomAD rs773776616 7q34 7 142656959A> G null I V 31 31 missense 0.105 benign 0.95 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1177350526 7q34 7 142656963C> A null T K 32 32 missense 0.009 benign 0.74 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed rs889749251 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142656972G> A null G E 35 35 missense 0.657 possibly damaging 0.07 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs747642641 7q34 7 142656971G> A null G R 35 35 missense 0.657 possibly damaging 0.05 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed rs1483098225 7q34 7 142656974A> G null K E 36 36 missense 0.03 benign 0.49 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1425750340 7q34 7 142656980A> G null I V 38 38 missense 0.001 benign 1.0 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 1000Genomes,ExAC,TOPMed,gnomAD rs147854044 7q34 7 142656993G> T null C F 42 42 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs773697723 7q34 7 142656992T> C null C R 42 42 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs773697723 7q34 7 142656992T> A null C S 42 42 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 1000Genomes,ExAC,TOPMed,gnomAD rs147854044 7q34 7 142656993G> A null C Y 42 42 2.0E-4 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1322248131 7q34 7 142656995T> C null S P 43 43 missense 0.891 possibly damaging 0.06 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1354640757 7q34 7 142656998C> G null Q E 44 44 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,TOPMed,gnomAD rs776974225 7q34 7 142657008G> A null G D 47 47 missense 0.001 benign 0.34 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1317388523 7q34 7 142657011A> G null H R 48 48 missense 0.82 possibly damaging 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed,gnomAD rs892989395 7q34 7 142657021G> A null M I 51 51 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 NCI-TCGA,gnomAD rs543314925 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142657020T> C null M T 51 51 missense 0.945 probably damaging 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ESP rs375579963 7q34 7 142657027G> T null W C 53 53 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,TOPMed,gnomAD rs765473852 7q34 7 142657029A> G null Y C 54 54 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed,gnomAD rs1439642432 7q34 7 142657028T> C null Y H 54 54 missense 0.791 possibly damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed,gnomAD rs1439642432 7q34 7 142657028T> A null Y N 54 54 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ESP,ExAC,TOPMed,gnomAD rs199848169 7q34 7 142657031C> T null R * 55 55 stop gained 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,TOPMed,gnomAD rs758465251 7q34 7 142657032G> A null R Q 55 55 missense 0.758 possibly damaging 0.11 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ESP,ExAC,gnomAD rs371296861 7q34 7 142657037G> C null D H 57 57 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ESP,ExAC,gnomAD rs371296861 7q34 7 142657037G> A null D N 57 57 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,TOPMed,gnomAD rs750318009 7q34 7 142657040C> G null P A 58 58 missense 0.754 possibly damaging 0.1 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1162286758 7q34 7 142657041C> A null P Q 58 58 missense 0.793 possibly damaging 0.09 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,NCI-TCGA,TOPMed,gnomAD rs750318009 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142657040C> T null P S 58 58 missense 0.668 possibly damaging 0.12 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs780065827 7q34 7 142657044G> A null G E 59 59 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 1000Genomes,ExAC,TOPMed,gnomAD rs183549006 7q34 7 142657050G> A null G D 61 61 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs754729198 7q34 7 142657049G> C null G R 61 61 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375651133 7q34 7 142657055C> T null Q * 63 63 3.99E-4 stop gained 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375651133 7q34 7 142657055C> G null Q E 63 63 3.99E-4 missense 0.091 benign 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1341551563 7q34 7 142657057G> T null Q H 63 63 missense 0.031 benign 0.05 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17254 7q34 7 142657056A> G null Q R 63 63 0.2181 missense 0.001 benign 1.0 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed rs1423628727 7q34 7 142657060G> C null L F 64 64 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1216914641 7q34 7 142657066T> A null Y * 66 66 stop gained 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 Ensembl rs763437023 7q34 7 142657065A> G null Y C 66 66 missense 0.227 benign 0.03 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,TOPMed,gnomAD rs772579135 7q34 7 142657074T> G null F C 69 69 missense 0.349 benign 0.14 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,NCI-TCGA,TOPMed,gnomAD rs772579135 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142657074T> C null F S 69 69 missense 0.001 benign 0.33 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ESP,ExAC,TOPMed,gnomAD rs372088086 7q34 7 142657084A> C null K N 72 72 missense 0.0 benign 1.0 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1206156224 7q34 7 142657087T> G null D E 73 73 missense 0.138 benign 0.85 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1254423921 7q34 7 142657088A> G null I V 74 74 missense 0.015 benign 0.31 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 Ensembl rs766300647 7q34 7 142657092A> G null N S 75 75 missense 0.01 benign 0.06 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1186387713 7q34 7 142657095A> T null K I 76 76 missense 0.919 probably damaging 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs777028970 7q34 7 142657104T> A null I N 79 79 missense 0.132 benign 0.03 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs777028970 7q34 7 142657104T> C null I T 79 79 missense 0.132 benign 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 Ensembl rs1563200914 7q34 7 142657117_142657118de l null Y * 83 83 stop gained 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1422325081 7q34 7 142657116A> G null Y C 83 83 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed,gnomAD rs1404863793 7q34 7 142657122T> C null V A 85 85 missense 0.094 benign 0.24 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs775717233 7q34 7 142657125C> T null S F 86 86 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,NCI-TCGA,TOPMed,gnomAD rs762956419 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 7q34 7 142657127C> T null R * 87 87 stop gained 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,TOPMed,gnomAD rs762956419 7q34 7 142657127C> G null R G 87 87 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 1000Genomes,ExAC,TOPMed,gnomAD rs556022715 7q34 7 142657128G> A null R Q 87 87 2.0E-4 missense 0.923 probably damaging 0.04 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs756162723 7q34 7 142657133G> C null A P 89 89 missense 0.005 benign 0.02 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,TOPMed,gnomAD rs766401190 7q34 7 142657136C> T null Q * 90 90 stop gained 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,NCI-TCGA,gnomAD rs753713986 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q34 7 142657137A> G null Q R 90 90 missense 0.006 benign 0.16 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs778440367 7q34 7 142657139G> T null A S 91 91 missense 0.012 benign 0.11 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed rs1307593741 7q34 7 142657140C> T null A V 91 91 missense 0.257 benign 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1344748248 7q34 7 142657142A> T null K * 92 92 stop gained 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs752449041 7q34 7 142657143A> T null K I 92 92 missense 0.022 benign 0.14 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs777382019 7q34 7 142657152T> C null L P 95 95 missense 0.968 probably damaging 0.02 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed rs1398678702 7q34 7 142657160G> C null E Q 98 98 missense 0.187 benign 0.06 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 TOPMed rs918378361 7q34 7 142657164C> G null S C 99 99 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1449098668 7q34 7 142657169A> C null I L 101 101 missense 0.0 benign 0.06 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 Ensembl rs1563200963 7q34 7 142657170T> C null I T 101 101 missense 0.0 benign 0.61 tolerated 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs770138042 7q34 7 142657177C> A null N K 103 103 missense 0.23 benign 0.02 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs775705653 7q34 7 142657190T> C null Y H 108 108 missense 0.86 possibly damaging 0.01 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1297832586 7q34 7 142657200C> G null A G 111 111 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1418023216 7q34 7 142657199G> T null A S 111 111 missense 0.858 possibly damaging 0.03 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC,gnomAD rs768733257 7q34 7 142657202A> G null T A 112 112 missense 0.01 benign 0.04 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 gnomAD rs1299783064 7q34 7 142657206G> A null S N 113 113 missense 0.657 possibly damaging 0.02 deleterious 0 A0A075B6N3 TRBV24-1 T cell receptor beta variable 24-1 ExAC rs774624410 7q34 7 142657212T> A null L * 115 115 stop gained 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1284226826 7q34 7 142670785C> G null I M 3 3 missense 0.294 benign 0.23 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1219055457 7q34 7 142670783A> G null I V 3 3 missense 0.0 benign 0.56 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1487984810 7q34 7 142670787G> A null R K 4 4 missense 0.295 benign 0.48 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1222464907 7q34 7 142670790T> A null L H 5 5 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 Ensembl rs1563209179 7q34 7 142670792C> T null L F 6 6 missense 0.275 benign 0.19 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1381246949 7q34 7 142670802T> C null V A 9 9 missense 0.079 benign 0.09 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17243 7q34 7 142670801G> C null V L 9 9 0.483 missense 0.012 benign 0.07 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17243 7q34 7 142670801G> T null V L 9 9 0.483 missense 0.012 benign 0.07 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17243 7q34 7 142670801G> A null V M 9 9 0.483 missense 0.022 benign 0.02 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1160086013 7q34 7 142670804G> A null G S 10 10 missense 0.0 benign 0.08 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1418541375 7q34 7 142670813T> C null F L 13 13 missense 0.0 benign 1.0 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1351116825 7q34 7 142670819G> C null G R 15 15 missense 0.104 benign 0.47 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs779404567 7q34 7 142670823C> G null A G 16 16 missense 0.019 benign 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ESP,TOPMed,gnomAD rs369395961 7q34 7 142670822G> T null A S 16 16 missense 0.121 benign 0.04 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ESP,TOPMed,gnomAD rs369395961 7q34 7 142670822G> A null A T 16 16 missense 0.005 benign 0.16 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs755532607 7q34 7 142670950G> A null G D 17 17 missense 0.119 benign 0.04 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs748443544 7q34 7 142670825G> A null G S 17 17 missense 0.423 benign 0.02 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs755532607 7q34 7 142670950G> T null G V 17 17 missense 0.944 probably damaging 0.02 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 TOPMed rs1232536408 7q34 7 142670953T> C null L P 18 18 missense 0.001 benign 0.29 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1238882571 7q34 7 142670956T> A null M K 19 19 missense 0.053 benign 0.13 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs748500543 7q34 7 142670955A> T null M L 19 19 missense 0.001 benign 0.27 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs748500543 7q34 7 142670955A> G null M V 19 19 missense 0.001 benign 1.0 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs758716364 7q34 7 142670961G> A null A T 21 21 missense 0.095 benign 0.05 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs777816221 7q34 7 142670962C> T null A V 21 21 missense 0.382 benign 0.02 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 TOPMed rs1328499407 7q34 7 142670964G> A null D N 22 22 missense 0.229 benign 0.09 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1467059136 7q34 7 142670967A> G null I V 23 23 missense 0.001 benign 1.0 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs747115657 7q34 7 142670971A> G null Y C 24 24 missense 0.54 possibly damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs770859068 7q34 7 142670977C> T null T I 26 26 missense 0.011 benign 0.04 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs770859068 7q34 7 142670977C> A null T N 26 26 missense 0.015 benign 0.18 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs576515037 7q34 7 142670986A> G null Y C 29 29 missense 0.394 benign 0.02 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs576515037 7q34 7 142670986A> T null Y F 29 29 missense 0.043 benign 0.72 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ESP,ExAC,TOPMed,gnomAD rs370890617 7q34 7 142670985T> C null Y H 29 29 missense 0.0 benign 0.79 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ESP,ExAC,TOPMed,gnomAD rs370890617 7q34 7 142670985T> A null Y N 29 29 missense 0.0 benign 0.18 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 TOPMed rs957812838 7q34 7 142670988C> T null L F 30 30 missense 0.047 benign 0.7 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs748406908 7q34 7 142670995T> C null I T 32 32 missense 0.001 benign 1.0 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ESP,ExAC,TOPMed,gnomAD rs368007538 7q34 7 142671006A> G null K E 36 36 missense 0.031 benign 0.53 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 TOPMed,gnomAD rs913505848 7q34 7 142671008G> C null K N 36 36 missense 0.011 benign 0.08 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1372569498 7q34 7 142671011G> T null K N 37 37 missense 0.003 benign 0.43 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs778126736 7q34 7 142671015A> G null T A 39 39 missense 0.053 benign 0.02 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs778126736 7q34 7 142671015A> T null T S 39 39 missense 0.078 benign 0.02 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 Ensembl rs867597535 7q34 7 142671018C> A null L M 40 40 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs753143116 7q34 7 142671022A> G null E G 41 41 missense 0.544 possibly damaging 0.06 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1276975683 7q34 7 142671024T> C null C R 42 42 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs758767548 7q34 7 142671025G> A null C Y 42 42 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1263205334 7q34 7 142671028C> T null S F 43 43 missense 0.148 benign 0.03 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs757499259 7q34 7 142671037T> G null M R 46 46 missense 0.053 benign 0.04 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs745926765 7q34 7 142671040G> A null G D 47 47 missense 0.015 benign 0.36 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs781171116 7q34 7 142671039G> C null G R 47 47 missense 0.837 possibly damaging 0.04 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs745926765 7q34 7 142671040G> T null G V 47 47 missense 0.837 possibly damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs768605485 7q34 7 142671042C> T null H Y 48 48 missense 0.013 benign 0.12 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 TOPMed rs1226877415 7q34 7 142671057T> C null W R 53 53 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs747945558 7q34 7 142671060T> C null Y H 54 54 missense 0.366 benign 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs771391415 7q34 7 142671065A> T null Q H 55 55 missense 0.465 possibly damaging 0.01 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs773051203 7q34 7 142671070A> T null D V 57 57 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs759075223 7q34 7 142671076G> A null G E 59 59 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed rs776026485 7q34 7 142671075G> A null G R 59 59 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1236109132 7q34 7 142671078A> G null M V 60 60 missense 0.009 benign 0.5 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs765843912 7q34 7 142671083A> C null E D 61 61 missense 0.15 benign 0.01 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 Ensembl rs774954555 7q34 7 142671084C> G null L V 62 62 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs753196332 7q34 7 142671090C> T null L F 64 64 missense 0.41 benign 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs753196332 7q34 7 142671090C> G null L V 64 64 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139377755 7q34 7 142671094T> G null I S 65 65 0.002396 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139377755 7q34 7 142671094T> C null I T 65 65 0.002396 missense 0.787 possibly damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ESP,ExAC,TOPMed,gnomAD rs368942493 7q34 7 142671096C> G null H D 66 66 missense 0.182 benign 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs781430343 7q34 7 142671100A> G null Y C 67 67 missense 0.242 benign 0.01 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs781430343 7q34 7 142671100A> C null Y S 67 67 missense 0.422 benign 0.02 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs756125048 7q34 7 142671103C> A null S Y 68 68 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1375704069 7q34 7 142671112T> C null V A 71 71 missense 0.546 possibly damaging 0.46 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1453641014 7q34 7 142671115A> T null N I 72 72 missense 0.612 possibly damaging 0.04 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs748146164 7q34 7 142671128G> T null K N 76 76 missense 0.01 benign 0.08 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs772010346 7q34 7 142671132G> T null D Y 78 78 missense 0.66 possibly damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 TOPMed,gnomAD rs1288322651 7q34 7 142671135C> A null L I 79 79 missense 0.007 benign 0.53 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1391551136 7q34 7 142671138T> C null S P 80 80 missense 0.006 benign 1.0 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1367403452 7q34 7 142671139C> A null S Y 80 80 missense 0.584 possibly damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs777474989 7q34 7 142671142C> T null S F 81 81 missense 0.21 benign 0.02 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1388974757 7q34 7 142671141T> C null S P 81 81 missense 0.862 possibly damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs746765940 7q34 7 142671145A> G null E G 82 82 missense 0.001 benign 1.0 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1241381884 7q34 7 142671150A> G null T A 84 84 missense 0.31 benign 0.08 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs776353677 7q34 7 142671156T> A null S T 86 86 missense 0.829 possibly damaging 0.07 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 TOPMed,gnomAD rs1236474909 7q34 7 142671160G> A null R K 87 87 missense 0.806 possibly damaging 0.01 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs745384802 7q34 7 142671162A> G null I V 88 88 missense 0.009 benign 0.2 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1211556857 7q34 7 142671165A> G null R G 89 89 missense 0.173 benign 0.03 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 1000Genomes,ExAC,TOPMed,gnomAD rs17244 7q34 7 142671169C> T null T M 90 90 3.99E-4 missense 0.069 benign 0.06 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 TOPMed,gnomAD rs1178964052 7q34 7 142671174C> A null H N 92 92 missense 0.001 benign 1.0 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs763595431 7q34 7 142671181C> T null P L 94 94 missense 0.007 benign 0.22 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 TOPMed,gnomAD rs1158673280 7q34 7 142671184T> C null L P 95 95 missense 0.486 possibly damaging 0.01 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 TOPMed rs1216741403 7q34 7 142671187C> A null T N 96 96 missense 0.649 possibly damaging 0.01 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs774603261 7q34 7 142671192G> T null E * 98 98 stop gained 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1394462813 7q34 7 142671198G> A null A T 100 100 missense 0.003 benign 0.16 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1448198192 7q34 7 142671202G> C null R T 101 101 missense 0.0 benign 0.55 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 gnomAD rs1333746250 7q34 7 142671204C> T null P S 102 102 missense 0.22 benign 0.17 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 TOPMed,gnomAD rs1389305309 7q34 7 142671212T> A null H Q 104 104 missense 0.001 benign 1.0 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377521554 7q34 7 142671211A> G null H R 104 104 0.001997 missense 0.058 benign 0.02 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,gnomAD rs750590528 7q34 7 142671216T> A null S T 106 106 missense 0.465 possibly damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs766482441 7q34 7 142671225C> T null L F 109 109 missense 0.003 benign 1.0 tolerated 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs753890560 7q34 7 142671231G> C null A P 111 111 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6N4 TRBV25-1 T cell receptor beta variable 25-1 ExAC,TOPMed,gnomAD rs758288108 7q34 7 142671234A> T null S C 112 112 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl,dbSNP rs137853184 [ClinVar]: Mitochondrial complex 1 deficiency, nuclear type 17 pubmed:18614015,pubmed:22019594 pubmed:18614015,pubmed:22019594 8q22.1 8 95032093A> G null R G 6 6 missense 0.015 benign 0.12 tolerated - low confidence 0 Mitochondrial complex 1 deficiency, nuclear type 17 MIM:618239 ClinVar:RCV000000577 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl,dbSNP rs137853184 [ClinVar]: Mitochondrial complex 1 deficiency, nuclear type 17 pubmed:18614015,pubmed:22019594 pubmed:18614015,pubmed:22019594 8q22.1 8 95032093A> G null R G 6 6 missense 0.015 benign 0.12 tolerated - low confidence 0 Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance. MIM:618239 pubmed:18614015,pubmed:22019594,pubmed:26741492 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1282405056 8q22.1 8 95035460G> A null D N 10 10 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs995812163 8q22.1 8 95035464C> A null S * 11 11 missense 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs995812163 8q22.1 8 95035464C> T null S L 11 11 missense 0.003 benign 0.05 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 dbSNP rs863223931 8q22.1 8 95035463_95035464de l null V null 12 12 frameshift 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1297054087 8q22.1 8 95035466G> C null V L 12 12 missense 0.187 benign 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs767438662 8q22.1 8 95035475A> C null K Q 15 15 missense 0.783 possibly damaging 0.19 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs1062304 8q22.1 8 95035479C> T null T I 16 16 missense 0.415 benign 0.08 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs372565148 8q22.1 8 95035482T> C null I T 17 17 missense 0.019 benign 0.09 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs777821109 8q22.1 8 95035484G> T null G * 18 18 missense 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1316240601 8q22.1 8 95035487C> A null L M 19 19 missense 0.936 probably damaging 0.1 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1218283035 8q22.1 8 95035490A> T null M L 20 20 missense 0.761 possibly damaging 0.05 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,NCI-TCGA,TOPMed,gnomAD rs753873681 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 8q22.1 8 95035493C> T null R * 21 21 missense 1 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1481664000 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 8q22.1 8 95035494G> A null R Q 21 21 missense 0.178 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1197467171 8q22.1 8 95035497T> A null M K 22 22 missense 0.197 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs760592428 8q22.1 8 95035496A> G null M V 22 22 missense 0.031 benign 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs757067360 8q22.1 8 95035502T> C null F L 24 24 missense 0.686 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1259395949 8q22.1 8 95035515C> T null T I 28 28 missense 0.471 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1259395949 8q22.1 8 95035515C> A null T N 28 28 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 dbSNP rs774890287 [ClinVar]: Inborn genetic diseases 8q22.1 8 95035518_95035520du p null V null 29 29 insertion 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000624815 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370162137 8q22.1 8 95035525T> A null D E 31 31 2.0E-4 missense 0.044 benign 0.52 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1276996036 8q22.1 8 95035524A> G null D G 31 31 missense 0.648 possibly damaging 0.12 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ExAC,TOPMed,gnomAD rs201732170 8q22.1 8 95035527T> A null I K 32 32 2.0E-4 missense 0.444 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs746500203 8q22.1 8 95035528A> G null I M 32 32 missense 0.023 benign 0.06 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201732170 [ClinVar]: Mitochondrial complex 1 deficiency, nuclear type 17, [ClinVar]: Leigh syndrome pubmed:26741492 pubmed:26741492 8q22.1 8 95035527T> C null I T 32 32 2.0E-4 missense 0.197 benign 0.17 tolerated 0 Leigh syndrome (LS) MIM:256000 pubmed:20301352,pubmed:20301382,pubmed:20301403,pubmed:26425749,ClinVar:RCV001004883 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201732170 [ClinVar]: Mitochondrial complex 1 deficiency, nuclear type 17, [ClinVar]: Leigh syndrome pubmed:26741492 pubmed:26741492 8q22.1 8 95035527T> C null I T 32 32 2.0E-4 missense 0.197 benign 0.17 tolerated 0 Mitochondrial complex 1 deficiency, nuclear type 17 MIM:618239 ClinVar:RCV000412555 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201732170 [ClinVar]: Mitochondrial complex 1 deficiency, nuclear type 17, [ClinVar]: Leigh syndrome pubmed:26741492 pubmed:26741492 8q22.1 8 95035527T> C null I T 32 32 2.0E-4 missense 0.197 benign 0.17 tolerated 0 Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance. MIM:618239 pubmed:18614015,pubmed:22019594,pubmed:26741492 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs1202773107 8q22.1 8 95035526A> G null I V 32 32 missense 0.007 benign 0.07 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1219158719 8q22.1 8 95035530A> G null Y C 33 33 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1287635285 8q22.1 8 95035533G> C null C S 34 34 missense 0.0 benign 0.73 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs768206391 8q22.1 8 95035535G> A null D N 35 35 missense 0.999 probably damaging 0.27 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs375665080 8q22.1 8 95035539A> G null N S 36 36 missense 0.007 benign 0.43 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1274038769 8q22.1 8 95035542C> T null P L 37 37 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs771220019 8q22.1 8 95035544C> T null P S 38 38 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1023438996 8q22.1 8 95035551A> G null Q R 40 40 missense 0.995 probably damaging 0.08 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs906392027 8q22.1 8 95035554C> T null P L 41 41 missense 0.925 probably damaging 0.03 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1399571315 8q22.1 8 95035553C> T null P S 41 41 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs763634041 8q22.1 8 95035560C> T null A V 43 43 missense 0.237 benign 0.06 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs759876288 8q22.1 8 95035562A> G null I V 44 44 missense 0.003 benign 0.4 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs755459618 8q22.1 8 95035566A> T null E V 45 45 missense 0.874 possibly damaging 0.07 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs532907065 8q22.1 8 95035568C> G null L V 46 46 missense 0.752 possibly damaging 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ExAC,gnomAD rs577894329 8q22.1 8 95041576A> G null K E 51 51 2.0E-4 missense 0.279 benign 0.28 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ExAC,gnomAD rs577894329 8q22.1 8 95041576A> C null K Q 51 51 2.0E-4 missense 0.35 benign 0.43 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs1046542152 8q22.1 8 95041583A> G null H R 53 53 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs906724196 8q22.1 8 95041588C> G null L V 55 55 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1329353525 8q22.1 8 95041594A> G null K E 57 57 missense 0.073 benign 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs765194083 8q22.1 8 95041607T> C null M T 61 61 missense 0.005 benign 0.55 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs750380174 8q22.1 8 95041615G> A null V I 64 64 missense 0.001 benign 1.0 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,NCI-TCGA,TOPMed,gnomAD rs766120751 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.1 8 95041618G> A null D N 65 65 missense 0.899 possibly damaging 0.05 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1234780249 8q22.1 8 95041622A> C null E A 66 66 missense 0.72 possibly damaging 0.53 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs765258608 8q22.1 8 95045546A> G null E G 68 68 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs1563825400 8q22.1 8 95045545G> A null E K 68 68 missense 0.998 probably damaging 0.17 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 dbSNP rs762093523 [ClinVar]: Inborn genetic diseases 8q22.1 8 95045552du p null N null 70 70 frameshift 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000622782 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1191770132 8q22.1 8 95045557G> T null D Y 72 72 missense 0.967 probably damaging 0.06 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs773163552 8q22.1 8 95045561A> G null D G 73 73 missense 0.72 possibly damaging 0.07 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs762805477 8q22.1 8 95045572C> T null R C 77 77 missense 0.013 benign 0.08 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ExAC,TOPMed,gnomAD rs576681448 8q22.1 8 95045573G> A null R H 77 77 2.0E-4 missense 0.007 benign 0.23 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ExAC,TOPMed,gnomAD rs576681448 8q22.1 8 95045573G> T null R L 77 77 2.0E-4 missense 0.23 benign 0.36 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs754834467 8q22.1 8 95045576A> C null N T 78 78 missense 0.492 possibly damaging 0.38 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200347396 8q22.1 8 95045580C> G null I M 79 79 2.0E-4 missense 0.109 benign 0.26 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs767124709 8q22.1 8 95045579T> C null I T 79 79 missense 0.419 benign 0.13 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs755570897 8q22.1 8 95045584G> T null E * 81 81 stop gained 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,ExAC,TOPMed,gnomAD rs375505575 8q22.1 8 95045597A> G null Y C 85 85 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs777177008 8q22.1 8 95045596T> G null Y D 85 85 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,ExAC,TOPMed,gnomAD rs375505575 8q22.1 8 95045597A> T null Y F 85 85 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,ExAC,TOPMed,dbSNP,gnomAD rs201088736 [ClinVar]: Mitochondrial complex 1 deficiency, nuclear type 17 pubmed:27623250,pubmed:29531337 8q22.1 8 95045599G> C null A P 86 86 missense 0.936 probably damaging 0.01 deleterious 0 Mitochondrial complex 1 deficiency, nuclear type 17 MIM:618239 ClinVar:RCV000412564 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,ExAC,TOPMed,gnomAD rs371970329 8q22.1 8 95045603A> G null E G 87 87 missense 0.823 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs769195630 8q22.1 8 95045606A> G null N S 88 88 missense 0.091 benign 0.03 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ExAC rs200931960 8q22.1 8 95045618C> G null S C 92 92 2.0E-4 missense 0.003 benign 0.08 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1158637926 8q22.1 8 95045617T> C null S P 92 92 missense 0.394 benign 0.04 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs967513162 8q22.1 8 95045620C> T null L F 93 93 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs1563825799 8q22.1 8 95045623C> T null L F 94 94 missense 0.771 possibly damaging 0.11 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 dbSNP rs753367800 8q22.1 8 95045624_95045626de l null L H 94 95 - 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 dbSNP rs765915512 8q22.1 8 95045626_95045630de l null Y null 95 95 frameshift 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl,dbSNP rs1085307635 8q22.1 8 95045628C> G null Y * 95 95 stop gained 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1416614232 8q22.1 8 95045627A> G null Y C 95 95 missense 0.149 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP rs373907044 8q22.1 8 95045631A> T null L F 96 96 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs977607068 8q22.1 8 95045640A> T null E D 99 99 missense 0.843 possibly damaging 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs756854954 8q22.1 8 95046994G> T null G V 102 102 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs780688057 8q22.1 8 95046998A> G null I M 103 103 missense 0.05 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs755357499 8q22.1 8 95047003A> G null D G 105 105 missense 0.017 benign 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs752139248 8q22.1 8 95047002G> A null D N 105 105 missense 0.017 benign 0.52 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs755357499 8q22.1 8 95047003A> T null D V 105 105 missense 0.795 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1254999976 8q22.1 8 95047011G> A null A T 108 108 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 dbSNP rs758181982 8q22.1 8 95047013de l null D null 109 109 frameshift 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs781696114 8q22.1 8 95047017C> G null H D 110 110 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1176398723 8q22.1 8 95047019T> G null H Q 110 110 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs781696114 8q22.1 8 95047017C> T null H Y 110 110 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs1131692157 8q22.1 8 95047024C> T null A V 112 112 missense 0.792 possibly damaging 0.04 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs765161552 8q22.1 8 95047026A> G null S G 113 113 missense 0.607 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs748324738 8q22.1 8 95047030A> G null H R 114 114 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1159903399 8q22.1 8 95047033T> C null I T 115 115 missense 0.543 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376835502 8q22.1 8 95047054T> C null V A 122 122 2.0E-4 missense 0.511 possibly damaging 0.07 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs1039696308 8q22.1 8 95047056A> G null T A 123 123 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1460612468 8q22.1 8 95047060G> T null C F 124 124 missense 0.602 possibly damaging 0.16 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs749297305 8q22.1 8 95047068G> A null A T 127 127 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs771090499 8q22.1 8 95047072C> A null T K 128 128 missense 0.415 benign 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1396036513 8q22.1 8 95047071A> T null T S 128 128 missense 0.168 benign 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1011377745 8q22.1 8 95047074C> T null P S 129 129 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,ExAC,dbSNP,gnomAD rs375090043 8q22.1 8 95047078A> G null Y C 130 130 missense 0.149 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1282815760 8q22.1 8 95047086A> G null S G 133 133 missense 0.003 benign 0.1 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs771786310 8q22.1 8 95047087G> T null S I 133 133 missense 0.692 possibly damaging 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs771786310 8q22.1 8 95047087G> A null S N 133 133 missense 0.475 possibly damaging 0.16 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs775273607 8q22.1 8 95047090G> A null R K 134 134 missense 0.995 probably damaging 0.34 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1275069802 8q22.1 8 95047098G> A null V M 137 137 missense 0.168 benign 0.18 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,dbSNP,gnomAD rs199955582 8q22.1 8 95047103C> G null F L 138 138 missense 0.045 benign 0.62 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1396015072 8q22.1 8 95047105T> A null L H 139 139 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1193998170 8q22.1 8 95047107C> A null P T 140 140 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1438159640 8q22.1 8 95047110A> G null M V 141 141 missense 0.003 benign 0.17 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1183654414 8q22.1 8 95047114A> C null D A 142 142 missense 0.492 possibly damaging 0.04 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1255175968 8q22.1 8 95047116A> T null I F 143 143 missense 0.76 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs1050776383 8q22.1 8 95047124G> A null M I 145 145 missense 0.007 benign 0.36 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs761183883 8q22.1 8 95047122A> T null M L 145 145 missense 0.037 benign 0.29 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1165209725 8q22.1 8 95047123T> C null M T 145 145 missense 0.138 benign 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs764875527 8q22.1 8 95047126T> C null L P 146 146 missense 0.843 possibly damaging 0.1 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs904773466 8q22.1 8 95048458A> G null H R 147 147 missense 0.072 benign 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs762620949 8q22.1 8 95048461G> A null G D 148 148 missense 0.16 benign 0.13 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,dbSNP,gnomAD rs762620949 [ClinVar]: Leigh syndrome 8q22.1 8 95048461G> T null G V 148 148 missense 0.927 probably damaging 0.0 deleterious 0 Leigh syndrome (LS) MIM:256000 pubmed:20301352,pubmed:20301382,pubmed:20301403,pubmed:26425749,ClinVar:RCV000626222 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs768106794 8q22.1 8 95048463G> A null V I 149 149 missense 0.997 probably damaging 0.11 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs753297390 8q22.1 8 95048467C> A null S * 150 150 stop gained 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs753297390 8q22.1 8 95048467C> T null S L 150 150 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1253208980 8q22.1 8 95048481C> G null L V 155 155 missense 0.028 benign 0.19 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ExAC,gnomAD rs569186576 cosmic curated [Cosmic]: lung pubmed:22975805,cosmic_study:453 8q22.1 8 95048485G> A null R Q 156 156 2.0E-4 missense 0.178 benign 0.14 tolerated 1 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs753940482 8q22.1 8 95048484C> T null R W 156 156 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1480667964 8q22.1 8 95048488G> C null R T 157 157 missense 0.12 benign 0.08 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1328289627 8q22.1 8 95048492C> A null N K 158 158 missense 0.003 benign 1.0 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1279055305 8q22.1 8 95048498T> G null D E 160 160 missense 0.003 benign 0.87 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1301242933 8q22.1 8 95048496G> C null D H 160 160 missense 0.495 possibly damaging 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1208138210 8q22.1 8 95048500A> G null K R 161 161 missense 0.011 benign 0.07 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1346854490 8q22.1 8 95048512A> G null D G 165 165 missense 0.482 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,dbSNP,gnomAD rs745941126 8q22.1 8 95048515T> C null V A 166 166 missense 0.997 probably damaging 0.36 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,gnomAD rs531605410 8q22.1 8 95048514G> A null V I 166 166 2.0E-4 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,gnomAD rs531605410 8q22.1 8 95048514G> C null V L 166 166 2.0E-4 missense 0.997 probably damaging 0.09 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1280613043 8q22.1 8 95048517A> G null I V 167 167 missense 0.003 benign 0.7 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs746347617 8q22.1 8 95048521A> G null Y C 168 168 missense 0.149 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1204202726 8q22.1 8 95048520T> C null Y H 168 168 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs747001504 8q22.1 8 95048527T> C null I T 170 170 missense 0.301 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1192276677 8q22.1 8 95048530C> T null A V 171 171 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs979818968 8q22.1 8 95048533G> A null S N 172 172 missense 0.657 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1354864030 8q22.1 8 95048539C> T null A V 174 174 missense 0.906 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,dbSNP,gnomAD rs768273248 [ClinVar]: Mitochondrial complex 1 deficiency, nuclear type 17 pubmed:26741492 pubmed:26741492 8q22.1 8 95048547C> G null H D 177 177 missense 0.999 probably damaging 0.0 deleterious 0 Mitochondrial complex 1 deficiency, nuclear type 17 MIM:618239 ClinVar:RCV000412599 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,dbSNP,gnomAD rs768273248 [ClinVar]: Mitochondrial complex 1 deficiency, nuclear type 17 pubmed:26741492 pubmed:26741492 8q22.1 8 95048547C> G null H D 177 177 missense 0.999 probably damaging 0.0 deleterious 0 Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance. MIM:618239 pubmed:18614015,pubmed:22019594,pubmed:26741492 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs768273248 8q22.1 8 95048547C> T null H Y 177 177 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,dbSNP,gnomAD rs747954437 8q22.1 8 95048550C> G null L V 178 178 missense 0.164 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs762531393 8q22.1 8 95048554A> G null K R 179 179 missense 0.341 benign 0.29 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs766008985 8q22.1 8 95048557A> C null H P 180 180 missense 0.857 possibly damaging 0.24 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs766008985 8q22.1 8 95048557A> G null H R 180 180 missense 0.475 possibly damaging 0.46 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1307463690 8q22.1 8 95052175C> G null A G 181 181 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl,dbSNP rs1057519086 [ClinVar]: Mitochondrial complex 1 deficiency, nuclear type 17 pubmed:26741492 pubmed:26741492 8q22.1 8 95052177A> G null R G 182 182 missense 0.341 benign 0.01 deleterious 0 Mitochondrial complex 1 deficiency, nuclear type 17 MIM:618239 ClinVar:RCV000412485 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl,dbSNP rs1057519086 [ClinVar]: Mitochondrial complex 1 deficiency, nuclear type 17 pubmed:26741492 pubmed:26741492 8q22.1 8 95052177A> G null R G 182 182 missense 0.341 benign 0.01 deleterious 0 Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance. MIM:618239 pubmed:18614015,pubmed:22019594,pubmed:26741492 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1377537097 8q22.1 8 95052179G> T null R S 182 182 missense 0.025 benign 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1330715526 8q22.1 8 95052181C> G null S C 183 183 missense 0.866 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1330715526 8q22.1 8 95052181C> T null S F 183 183 missense 0.037 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,TOPMed rs374858621 8q22.1 8 95052186C> G null H D 185 185 2.0E-4 missense 0.169 benign 0.25 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,TOPMed rs374858621 8q22.1 8 95052186C> T null H Y 185 185 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1231077504 8q22.1 8 95052190A> G null K R 186 186 missense 0.007 benign 0.11 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61743028 [ClinVar]: Mitochondrial complex 1 deficiency, nuclear type 17 8q22.1 8 95052195G> A null V I 188 188 0.003195 missense 0.044 benign 0.29 tolerated 0 Mitochondrial complex 1 deficiency, nuclear type 17 MIM:618239 ClinVar:RCV000988097 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 dbSNP,gnomAD rs1224421127 8q22.1 8 95052198C> G null P A 189 189 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1231712550 8q22.1 8 95052199C> T null P L 189 189 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1382357457 8q22.1 8 95052201G> C null V L 190 190 missense 0.015 benign 0.29 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 Ensembl rs923860076 8q22.1 8 95052205A> T null K I 191 191 missense 0.741 possibly damaging 0.07 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs762140299 8q22.1 8 95052206A> C null K N 191 191 missense 0.379 benign 0.3 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs750580330 8q22.1 8 95052225C> G null Q E 198 198 missense 0.087 benign 0.16 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1463748523 8q22.1 8 95052228A> G null T A 199 199 missense 0.998 probably damaging 0.57 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs763178410 8q22.1 8 95052229C> T null T M 199 199 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,ExAC,TOPMed rs368684155 8q22.1 8 95057809G> T null V F 200 200 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,ExAC,TOPMed rs368684155 8q22.1 8 95057809G> A null V I 200 200 missense 0.101 benign 0.21 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1281527809 8q22.1 8 95057813C> T null S F 201 201 missense 0.001 benign 0.28 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1368664541 8q22.1 8 95057815C> G null L V 202 202 missense 0.011 benign 0.43 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs763206621 8q22.1 8 95057821G> C null D H 204 204 missense 0.007 benign 0.1 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200986634 8q22.1 8 95057831A> C null K T 207 207 2.0E-4 missense 0.258 benign 0.24 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs756131864 8q22.1 8 95057833A> C null K Q 208 208 missense 0.543 possibly damaging 0.27 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,NCI-TCGA,TOPMed,gnomAD rs753681024 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:375 8q22.1 8 95057842C> T null R * 211 211 missense 1 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1392002240 8q22.1 8 95057843G> A null R Q 211 211 missense 0.0 benign 0.35 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs778600762 8q22.1 8 95057849A> G null D G 213 213 missense 0.017 benign 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1172709761 8q22.1 8 95057848G> A null D N 213 213 missense 0.028 benign 0.21 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,TOPMed rs375352638 8q22.1 8 95057855A> G null D G 215 215 missense 0.61 possibly damaging 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,ExAC,TOPMed,gnomAD rs368450784 8q22.1 8 95057858T> C null I T 216 216 missense 0.182 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1430891827 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.1 8 95057867C> T null P L 219 219 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed,gnomAD rs1430891827 8q22.1 8 95057867C> A null P Q 219 219 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1344064505 8q22.1 8 95057866C> T null P S 219 219 missense 0.999 probably damaging 0.1 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1292525718 8q22.1 8 95057870C> G null S C 220 220 missense 0.754 possibly damaging 0.04 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1322002836 8q22.1 8 95057883G> T null K N 224 224 missense 0.836 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs757882119 8q22.1 8 95057885A> G null N S 225 225 missense 0.031 benign 0.17 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs779556149 8q22.1 8 95057888C> T null T I 226 226 missense 0.007 benign 0.42 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs746582285 8q22.1 8 95057894T> A null L H 228 228 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,TOPMed,gnomAD rs770285873 8q22.1 8 95057896C> G null P A 229 229 missense 0.113 benign 0.05 tolerated 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 gnomAD rs1447631428 8q22.1 8 95057897C> T null P L 229 229 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 TOPMed rs1303565883 8q22.1 8 95057907G> T null L F 232 232 missense 0.885 possibly damaging 0.02 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ESP,ExAC,TOPMed rs371990047 8q22.1 8 95057909A> G null Y C 233 233 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ExAC,gnomAD rs771222682 8q22.1 8 95057923A> G null R G 238 238 missense 0.423 benign 0.0 deleterious 0 A0A075B6P0 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs544582476 8q22.1 8 95057927A> G null K R 239 239 7.99E-4 missense 0.028 benign 0.16 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ESP,ExAC,TOPMed,gnomAD rs369560824 22q11.21 22 19447685C> T null A T 2 2 missense 0.846 possibly damaging 0.07 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs747174201 22q11.21 22 19447684G> A null A V 2 2 missense 0.854 possibly damaging 0.01 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC rs772239734 22q11.21 22 19447681T> G null D A 3 3 missense 0.059 benign 0.08 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ESP,ExAC,TOPMed,gnomAD rs371689783 22q11.21 22 19447680G> C null D E 3 3 missense 0.005 benign 0.43 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1234373363 22q11.21 22 19447682C> A null D Y 3 3 missense 0.568 possibly damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1440957249 22q11.21 22 19447678C> G null G A 4 4 missense 0.0 benign 0.8 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed,gnomAD rs937325615 22q11.21 22 19447679C> A null G C 4 4 missense 0.007 benign 0.15 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 Ensembl rs1569323384 22q11.21 22 19447676T> C null S G 5 5 missense 0.0 benign 1.0 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs778908819 22q11.21 22 19447675C> T null S N 5 5 missense 0.022 benign 0.15 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 Ensembl rs1569323384 22q11.21 22 19447676T> G null S R 5 5 missense 0.042 benign 0.07 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs778908819 22q11.21 22 19447675C> G null S T 5 5 missense 0.022 benign 0.24 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs199635608 22q11.21 22 19447669C> T null W * 7 7 stop gained 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs780338066 22q11.21 22 19447670A> C null W G 7 7 missense 0.003 benign 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs199635608 22q11.21 22 19447669C> A null W L 7 7 missense 0.624 possibly damaging 0.01 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs780338066 22q11.21 22 19447670A> T null W R 7 7 missense 0.823 possibly damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs199635608 22q11.21 22 19447669C> G null W S 7 7 missense 0.563 possibly damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed,gnomAD rs1174111464 22q11.21 22 19447667G> A null Q * 8 8 stop gained 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs767175833 22q11.21 22 19447666T> G null Q P 8 8 missense 0.865 possibly damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs767175833 22q11.21 22 19447666T> C null Q R 8 8 missense 0.035 benign 1.0 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs771216730 22q11.21 22 19447544G> A null P L 9 9 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs777324071 22q11.21 22 19447539G> A null R C 11 11 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1476042524 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 19447536G> A null P S 12 12 missense 0.011 benign 0.32 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs752233579 22q11.21 22 19447532C> T null C Y 13 13 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1187557535 22q11.21 22 19447529T> G null E A 14 14 missense 0.942 probably damaging 0.04 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1467733563 22q11.21 22 19447530C> T null E K 14 14 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 Ensembl rs1569323237 22q11.21 22 19447524A> G null Y H 16 16 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1169341065 22q11.21 22 19447523T> G null Y S 16 16 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs754962977 22q11.21 22 19447521G> A null R C 17 17 missense 0.736 possibly damaging 0.18 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs754962977 22q11.21 22 19447521G> C null R G 17 17 missense 0.003 benign 0.39 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1215038145 22q11.21 22 19447518C> T null A T 18 18 missense 0.012 benign 0.08 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1433828151 22q11.21 22 19447517G> A null A V 18 18 missense 0.232 benign 0.01 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 1000Genomes,ExAC,TOPMed,gnomAD rs572806832 22q11.21 22 19447513C> G null E D 19 19 2.0E-4 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1377131550 22q11.21 22 19447514T> C null E G 19 19 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,gnomAD rs753885890 22q11.21 22 19447515C> T null E K 19 19 missense 0.721 possibly damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1370524942 22q11.21 22 19447512A> G null W R 20 20 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1459653538 22q11.21 22 19447506G> A null L F 22 22 missense 0.962 probably damaging 0.17 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1459653538 22q11.21 22 19447506G> C null L V 22 22 missense 0.915 probably damaging 0.19 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1353075224 22q11.21 22 19447502C> T null C Y 23 23 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1300146925 22q11.21 22 19447499C> A null R L 24 24 missense 0.013 benign 0.03 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 Ensembl rs866407996 22q11.21 22 19447500G> T null R S 24 24 missense 0.04 benign 0.05 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 Ensembl rs867414039 22q11.21 22 19447497T> C null S G 25 25 missense 0.118 benign 0.17 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 Ensembl rs867015234 22q11.21 22 19447495G> T null S R 25 25 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 Ensembl rs868313858 22q11.21 22 19447494C> A null A S 26 26 missense 0.69 possibly damaging 0.06 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 Ensembl rs868313858 22q11.21 22 19447494C> T null A T 26 26 missense 0.482 possibly damaging 0.23 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,gnomAD rs751754548 22q11.21 22 19447491T> C null R G 27 27 missense 0.003 benign 0.44 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed,gnomAD rs936936173 22q11.21 22 19447490C> G null R T 27 27 missense 0.013 benign 0.38 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1210543397 22q11.21 22 19447486G> C null H Q 28 28 missense 0.918 probably damaging 0.01 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1253082646 22q11.21 22 19447487T> C null H R 28 28 missense 0.89 possibly damaging 0.01 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1453337575 22q11.21 22 19447488G> A null H Y 28 28 missense 0.943 probably damaging 0.1 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 1000Genomes,ExAC,TOPMed,gnomAD rs553030924 22q11.21 22 19447477G> C null H Q 31 31 9.98E-4 missense 0.509 possibly damaging 0.01 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed,gnomAD rs1309160369 22q11.21 22 19447478T> C null H R 31 31 missense 0.022 benign 0.07 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1205007162 22q11.21 22 19447479G> A null H Y 31 31 missense 0.022 benign 0.01 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1233482084 22q11.21 22 19447476G> A null H Y 32 32 missense 0.022 benign 0.02 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs193193476 22q11.21 22 19447472T> C null Y C 33 33 0.005591 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,gnomAD rs769915997 22q11.21 22 19447470A> C null Y D 34 34 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,gnomAD rs769915997 22q11.21 22 19447470A> G null Y H 34 34 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,gnomAD rs759975057 22q11.21 22 19447467C> T null V I 35 35 missense 0.788 possibly damaging 0.08 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs771290900 22q11.21 22 19447463T> A null H L 36 36 missense 0.242 benign 0.01 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs771290900 22q11.21 22 19447463T> G null H P 36 36 missense 0.015 benign 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed,gnomAD rs1434652269 22q11.21 22 19447462G> C null H Q 36 36 missense 0.846 possibly damaging 0.01 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs777013130 22q11.21 22 19447464G> A null H Y 36 36 missense 0.015 benign 0.7 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1288266193 22q11.21 22 19447455G> A null R W 39 39 missense 0.007 benign 0.2 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1395110608 22q11.21 22 19447452G> C null P A 40 40 missense 0.783 possibly damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1175007495 22q11.21 22 19447451G> A null P L 40 40 missense 0.43 benign 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs747359383 22q11.21 22 19447449C> T null A T 41 41 missense 0.003 benign 0.22 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1249440400 22q11.21 22 19447448G> A null A V 41 41 missense 0.003 benign 0.1 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed,gnomAD rs1177568460 22q11.21 22 19447444G> C null C W 42 42 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1481455590 22q11.21 22 19447443C> T null E K 43 43 missense 0.003 benign 0.2 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,gnomAD rs778253007 22q11.21 22 19447440G> A null Q * 44 44 stop gained 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed,gnomAD rs1210011192 22q11.21 22 19447437A> G null W R 45 45 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1366120311 22q11.21 22 19447434G> A null Q * 46 46 stop gained 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,gnomAD rs771594698 22q11.21 22 19447433T> G null Q P 46 46 missense 0.036 benign 0.03 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,gnomAD rs771594698 22q11.21 22 19447433T> C null Q R 46 46 missense 0.0 benign 0.72 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1016137772 22q11.21 22 19447431G> C null R G 47 47 missense 0.79 possibly damaging 0.04 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1473004413 22q11.21 22 19447427T> G null D A 48 48 missense 0.275 benign 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,gnomAD rs747876609 22q11.21 22 19447428C> G null D H 48 48 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 1000Genomes,ExAC,TOPMed,gnomAD rs568626723 22q11.21 22 19447408G> T null D E 54 54 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1311462134 22q11.21 22 19447405C> G null W C 55 55 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs753786004 22q11.21 22 19447403T> G null E A 56 56 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 ExAC,TOPMed,gnomAD rs779878857 22q11.21 22 19447402C> A null E D 56 56 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1209991120 22q11.21 22 19447401C> T null E K 57 57 missense 0.006 benign 0.95 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1451068721 22q11.21 22 19447389C> A null A S 61 61 missense 0.451 possibly damaging 0.07 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed,gnomAD rs1159307421 22q11.21 22 19447380G> A null Q * 64 64 stop gained 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed,gnomAD rs1159307421 22q11.21 22 19447380G> C null Q E 64 64 missense 0.124 benign 0.17 tolerated 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed,gnomAD rs1231289537 22q11.21 22 19441687C> T null S N 67 67 missense 0.0 benign 0.46 tolerated - low confidence 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1177914404 22q11.21 22 19441685C> T null V M 68 68 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1413318799 22q11.21 22 19441681A> C null V G 69 69 missense 0.023 benign 0.04 deleterious - low confidence 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1167414061 22q11.21 22 19441676G> T null H N 71 71 missense 0.607 possibly damaging 0.46 tolerated - low confidence 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1395614506 22q11.21 22 19441657T> C null Y C 77 77 missense 0.966 probably damaging 0.05 tolerated - low confidence 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 TOPMed rs1465448867 22q11.21 22 19441648C> T null G D 80 80 missense 0.919 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1316347976 22q11.21 22 19441645C> A null * L 81 81 stop lost 0 A0A075B6P1 C22orf39 UPF0545 protein C22orf39 gnomAD rs1360914429 22q11.21 22 19441646A> G null * R 81 81 stop lost 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs754055817 20q12 20 41551329C> T null M I 3 3 missense 0.838 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes rs200580134 20q12 20 41551328T> A null K * 4 4 stop gained 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes rs200225911 20q12 20 41551327T> C null K R 4 4 missense 0.142 benign 0.02 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1251653038 20q12 20 41551307G> A null Q * 11 11 stop gained 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148499011 20q12 20 41533564T> C null N D 14 14 3.99E-4 missense 0.024 benign 0.11 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs772509523 20q12 20 41533556T> G null K N 16 16 missense 0.102 benign 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs746361057 20q12 20 41533550C> A null L F 18 18 missense 0.011 benign 0.03 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes,ExAC,gnomAD rs548995390 20q12 20 41533546G> C null H D 20 20 2.0E-4 missense 0.001 benign 0.19 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed,gnomAD rs1013966486 20q12 20 41533540G> C null P A 22 22 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed,gnomAD rs1013966486 cosmic curated [Cosmic]: urinary_tract pubmed:21822268,pubmed:24121792,cosmic_study:398,cosmic_study:557,cosmic_study:581 20q12 20 41533540G> A null P S 22 22 missense 0.996 probably damaging 0.0 deleterious - low confidence 1 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1451159479 20q12 20 41533536A> G null M T 23 23 missense 0.23 benign 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed,gnomAD rs970810354 20q12 20 41533537T> C null M V 23 23 missense 0.444 benign 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs778153320 20q12 20 41533530T> C null D G 25 25 missense 0.112 benign 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs552403035 20q12 20 41533525A> G null S P 27 27 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1427759373 20q12 20 41533518T> A null N I 29 29 missense 0.02 benign 0.03 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1198796828 20q12 20 41533513C> G null D H 31 31 missense 0.754 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs754920470 20q12 20 41533509T> C null Y C 32 32 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1264019844 20q12 20 41533497G> A null S F 36 36 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs766190460 20q12 20 41533498A> G null S P 36 36 missense 0.001 benign 0.08 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs772654007 20q12 20 41533495G> C null P A 37 37 missense 0.024 benign 0.05 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1232434568 20q12 20 41533488T> C null D G 39 39 missense 0.014 benign 0.37 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs761438267 20q12 20 41533486A> C null C G 40 40 missense 0.0 benign 0.64 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) Ensembl rs990976037 20q12 20 41533485C> T null C Y 40 40 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed,gnomAD rs1432683920 20q12 20 41533474G> C null Q E 44 44 missense 0.952 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed,gnomAD rs1432683920 20q12 20 41533474G> T null Q K 44 44 missense 0.952 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1363961964 20q12 20 41533469T> G null E D 45 45 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1456407116 20q12 20 41533470T> C null E G 45 45 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1249125061 cosmic curated [Cosmic]: breast pubmed:22722201,cosmic_study:385 20q12 20 41533471C> T null E K 45 45 missense 0.003 benign 0.02 deleterious - low confidence 1 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,NCI-TCGA,gnomAD rs775880254 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 41533468C> T null E K 46 46 missense 0.024 benign 0.02 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1399445190 20q12 20 41533460A> C null I M 48 48 missense 0.726 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs772447471 20q12 20 41533462T> C null I V 48 48 missense 0.049 benign 0.05 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs746174754 20q12 20 41533458T> A null E V 49 49 missense 0.024 benign 0.04 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs774944193 20q12 20 41533450C> T null A T 52 52 missense 0.003 benign 0.07 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1161430470 20q12 20 41533443T> C null H R 54 54 missense 0.01 benign 0.11 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375832703 20q12 20 41533435G> A null P S 57 57 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) Ensembl rs200367561 20q12 20 41533426C> T null D N 60 60 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs188472491 20q12 20 41533422A> G null L P 61 61 2.0E-4 missense 0.34 benign 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61753666 20q12 20 41533423G> C null L V 61 61 0.01518 missense 0.024 benign 0.2 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs781172942 20q12 20 41533419T> C null Y C 62 62 missense 0.628 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs754833905 20q12 20 41533417T> C null T A 63 63 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs751266345 20q12 20 41533416G> A null T I 63 63 missense 0.02 benign 0.12 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1384151657 20q12 20 41533411C> T null E K 65 65 missense 0.001 benign 0.03 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1277886189 20q12 20 41533396T> C null T A 70 70 missense 0.01 benign 0.82 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs766357098 20q12 20 41533389A> C null F C 72 72 missense 0.628 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs367761164 20q12 20 41533386G> A null P L 73 73 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs367761164 20q12 20 41533386G> C null P R 73 73 missense 0.069 benign 0.27 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1225841252 20q12 20 41533375T> A null T S 77 77 missense 0.003 benign 0.31 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs750005817 20q12 20 41533372A> C null S A 78 78 missense 0.006 benign 0.39 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs764700997 20q12 20 41533371G> A null S F 78 78 missense 0.641 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139013127 20q12 20 41533360T> A null M L 82 82 2.0E-4 missense 0.024 benign 0.12 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs774511365 20q12 20 41533353T> A null D V 84 84 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs771533922 20q12 20 41533345C> T null G R 87 87 missense 0.881 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ESP,NCI-TCGA,gnomAD rs146163707 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 41533341C> T null G E 88 88 missense 0.255 benign 0.13 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs773477562 20q12 20 41533338C> T null G D 89 89 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs773477562 20q12 20 41533338C> A null G V 89 89 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs763580626 cosmic curated [Cosmic]: lung pubmed:23033341,cosmic_study:456 20q12 20 41533336T> C null T A 90 90 missense 0.6 possibly damaging 0.01 deleterious - low confidence 1 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1224131280 20q12 20 41533332C> G null G A 91 91 missense 0.835 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) Ensembl rs1568682809 20q12 20 41533333C> T null G R 91 91 missense 0.9 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1368163432 20q12 20 41533317C> A null R L 96 96 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1368163432 20q12 20 41533317C> T null R Q 96 96 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs781502186 20q12 20 41533318G> A null R W 96 96 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs746827134 20q12 20 41533311T> G null K T 98 98 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1263743370 20q12 20 41533304C> G null E D 100 100 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1252496559 20q12 20 41533305T> C null E G 100 100 missense 0.014 benign 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes,ExAC,gnomAD rs544937747 20q12 20 41533297C> G null D H 103 103 2.0E-4 missense 0.131 benign 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ESP,ExAC,TOPMed,gnomAD rs138284433 20q12 20 41533291C> G null E Q 105 105 missense 0.113 benign 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ESP,gnomAD rs150105339 20q12 20 41533285C> T null A T 107 107 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1224492009 20q12 20 41533284G> A null A V 107 107 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1402301894 20q12 20 41533278T> C null K R 109 109 missense 0.824 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1283272472 20q12 20 41533276C> T null G R 110 110 missense 0.34 benign 0.08 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1179905972 20q12 20 41533272C> T null S N 111 111 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1341487284 20q12 20 41533264T> C null R G 114 114 missense 0.037 benign 0.02 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed,gnomAD rs907876863 20q12 20 41533263C> G null R T 114 114 missense 0.037 benign 0.03 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs778777480 20q12 20 41533261C> G null E Q 115 115 missense 0.212 benign 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1285980166 20q12 20 41533260T> A null E V 115 115 missense 0.462 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs987504557 20q12 20 41533252G> A null P S 118 118 missense 0.617 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ESP,ExAC,TOPMed,gnomAD rs140783644 20q12 20 41533240G> A null R * 122 122 stop gained 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs762642233 20q12 20 41533239C> T null R Q 122 122 missense 0.644 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1464176287 20q12 20 41533233G> A null P L 124 124 missense 0.92 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed,gnomAD rs41283260 20q12 20 41533231T> C null K E 125 125 missense 0.056 benign 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed,gnomAD rs41283260 20q12 20 41533231T> G null K Q 125 125 missense 0.076 benign 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1301469495 20q12 20 41533228C> A null E * 126 126 stop gained 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs752017881 20q12 20 41533226C> G null E D 126 126 missense 0.97 probably damaging 0.03 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1387550437 20q12 20 41533227T> A null E V 126 126 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1472204087 20q12 20 41533225G> C null P A 127 127 missense 0.049 benign 0.18 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs766632353 20q12 20 41533221T> C null K R 128 128 missense 0.757 possibly damaging 0.17 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1337948040 20q12 20 41533219C> T null E K 129 129 missense 0.76 possibly damaging 0.19 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1449662969 20q12 20 41533216G> T null P T 130 130 missense 0.915 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs75576471 20q12 20 41533212C> G null R T 131 131 0.001398 missense 0.081 benign 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs770377340 20q12 20 41533208C> A null K N 132 132 missense 0.327 benign 0.02 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1352482314 20q12 20 41533207C> G null A P 133 133 missense 0.001 benign 0.32 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs762002097 20q12 20 41533197G> A null P L 136 136 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs768992178 20q12 20 41533194T> G null K T 137 137 missense 0.113 benign 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1434677922 20q12 20 41533192T> C null K E 138 138 missense 0.081 benign 0.77 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed,gnomAD rs1330897100 20q12 20 41533190C> G null K N 138 138 missense 0.224 benign 0.18 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs949402314 20q12 20 41533189C> T null A T 139 139 missense 0.0 benign 0.48 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs775084699 20q12 20 41533186T> C null K E 140 140 missense 0.025 benign 0.01 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) gnomAD rs1402657752 20q12 20 41533183C> T null E K 141 141 missense 0.039 benign 0.05 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs779935894 20q12 20 41533175C> G null K N 143 143 missense 0.327 benign 0.02 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,TOPMed,gnomAD rs771882564 20q12 20 41533174C> G null E Q 144 144 missense 0.193 benign 0.04 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs556078000 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q12 20 41533170G> A null P L 145 145 2.0E-4 missense 0.078 benign 0.03 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1430001320 20q12 20 41533167T> G null K T 146 146 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) ExAC,gnomAD rs753452732 20q12 20 41533164T> G null Q P 147 147 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) TOPMed rs1433150631 20q12 20 41533160T> G null K N 148 148 missense 0.343 benign 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs572870848 20q12 20 41533158T> C null D G 149 149 2.0E-4 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A075B6P4 CHD6 Chromodomain-helicase-DNA-binding protein 6 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs572870848 20q12 20 41533158T> A null D V 149 149 2.0E-4 missense 0.042 benign 0.0 deleterious - low confidence 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 NCI-TCGA rs766284150 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2p11.2 2 89222431T> C null M ? 1 1 - 0.118 benign 0.05 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs760666788 2p11.2 2 89222427C> T null R K 2 2 missense 0.015 benign 0.19 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs772888116 2p11.2 2 89222426C> A null R S 2 2 missense 0.062 benign 0.1 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1386918915 2p11.2 2 89222425G> A null L F 3 3 missense 0.007 benign 0.73 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1386918915 2p11.2 2 89222425G> C null L V 3 3 missense 0.022 benign 0.37 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1291484445 2p11.2 2 89222421G> C null P R 4 4 missense 0.87 possibly damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1437690481 2p11.2 2 89222418G> T null A D 5 5 missense 0.091 benign 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1437690481 2p11.2 2 89222418G> C null A G 5 5 missense 0.038 benign 0.04 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs749674524 2p11.2 2 89222413G> A null L F 7 7 missense 0.048 benign 0.21 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs749674524 2p11.2 2 89222413G> C null L V 7 7 missense 0.176 benign 0.26 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1004302709 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89222406C> T null G E 9 9 missense 0.903 possibly damaging 0.27 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1456121807 2p11.2 2 89222398T> C null M V 12 12 missense 0.003 benign 0.25 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1379373721 2p11.2 2 89222391C> T null W * 14 14 stop gained 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC rs779735863 2p11.2 2 89222008C> T null G E 17 17 missense 0.043 benign 0.06 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs980508272 2p11.2 2 89222005G> C null S C 18 18 missense 0.894 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs980508272 2p11.2 2 89222005G> A null S F 18 18 missense 0.111 benign 0.03 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1166995984 2p11.2 2 89222006A> T null S T 18 18 missense 0.031 benign 0.22 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1306039062 2p11.2 2 89221999C> T null G E 20 20 missense 0.414 benign 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1376877475 2p11.2 2 89222000C> T null G R 20 20 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs755906046 2p11.2 2 89221995A> C null D E 21 21 missense 0.118 benign 0.14 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs755906046 2p11.2 2 89221995A> T null D E 21 21 missense 0.118 benign 0.14 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,NCI-TCGA rs547009276 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89221997C> T null D N 21 21 2.0E-4 missense 0.331 benign 0.04 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs750239971 2p11.2 2 89221994T> A null I F 22 22 missense 0.104 benign 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1183696573 2p11.2 2 89221992A> C null I M 22 22 missense 0.746 possibly damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC rs528847800 2p11.2 2 89221993A> G null I T 22 22 2.0E-4 missense 0.457 possibly damaging 0.12 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1483124262 2p11.2 2 89221990A> G null V A 23 23 missense 0.282 benign 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,gnomAD rs568377923 2p11.2 2 89221988T> G null M L 24 24 3.99E-4 missense 0.011 benign 0.58 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,gnomAD rs568377923 2p11.2 2 89221988T> A null M L 24 24 3.99E-4 missense 0.011 benign 0.58 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs757241045 2p11.2 2 89221985T> C null T A 25 25 missense 0.535 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,TOPMed rs549784946 2p11.2 2 89221984G> A null T I 25 25 2.0E-4 missense 0.737 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs757241045 2p11.2 2 89221985T> G null T P 25 25 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,TOPMed rs549784946 2p11.2 2 89221984G> C null T S 25 25 2.0E-4 missense 0.679 possibly damaging 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs441602 2p11.2 2 89221979A> G null S P 27 27 missense 0.011 benign 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1199398700 2p11.2 2 89221975G> A null P L 28 28 missense 0.306 benign 0.03 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs751073789 2p11.2 2 89221972A> C null L R 29 29 missense 0.039 benign 0.49 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1290806939 2p11.2 2 89221966A> T null L Q 31 31 missense 0.549 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,TOPMed,gnomAD rs531578421 2p11.2 2 89221963G> T null P H 32 32 7.99E-4 missense 0.715 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs763623127 2p11.2 2 89221964G> A null P S 32 32 missense 0.001 benign 1.0 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs755410043 2p11.2 2 89221961C> T null V I 33 33 missense 0.041 benign 0.17 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1163616979 2p11.2 2 89221958T> C null T A 34 34 missense 0.001 benign 0.06 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1477589594 2p11.2 2 89221954G> T null P H 35 35 missense 0.125 benign 0.1 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs765585940 2p11.2 2 89221955G> A null P S 35 35 missense 0.044 benign 0.12 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1189060995 2p11.2 2 89221949C> G null E Q 37 37 missense 0.034 benign 0.29 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs759956727 2p11.2 2 89221945G> A null P L 38 38 missense 0.013 benign 0.18 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1161333751 2p11.2 2 89221946G> A null P S 38 38 missense 0.005 benign 0.54 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1433686337 2p11.2 2 89221943C> T null A T 39 39 missense 0.187 benign 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1175268798 2p11.2 2 89221940A> C null S A 40 40 missense 0.84 possibly damaging 0.03 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1452973076 2p11.2 2 89221937T> C null I V 41 41 missense 0.134 benign 0.04 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs947778820 2p11.2 2 89221933G> A null S F 42 42 missense 0.602 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1333202924 2p11.2 2 89221931A> T null C S 43 43 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1229577312 2p11.2 2 89221927C> T null R K 44 44 missense 0.009 benign 1.0 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1326138035 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89221924G> A null S F 45 45 missense 0.874 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1286534680 2p11.2 2 89221918T> C null Q R 47 47 missense 0.071 benign 0.04 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes rs545978749 2p11.2 2 89221916T> G null S R 48 48 2.0E-4 missense 0.335 benign 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes rs527788737 2p11.2 2 89221915C> G null S T 48 48 3.99E-4 missense 0.105 benign 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1331883218 2p11.2 2 89221912A> T null L H 49 49 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1385980168 2p11.2 2 89221907G> C null H D 51 51 missense 0.007 benign 0.17 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1392060258 2p11.2 2 89221905A> T null H Q 51 51 missense 0.023 benign 0.04 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1385980168 2p11.2 2 89221907G> A null H Y 51 51 missense 0.005 benign 0.39 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1322404183 2p11.2 2 89221904T> C null S G 52 52 missense 0.034 benign 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC rs761212103 2p11.2 2 89221903C> G null S T 52 52 missense 0.007 benign 0.04 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,TOPMed,gnomAD rs542262281 2p11.2 2 89221901T> C null N D 53 53 2.0E-4 missense 0.001 benign 0.74 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,TOPMed,gnomAD rs542262281 2p11.2 2 89221901T> G null N H 53 53 2.0E-4 missense 0.059 benign 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,gnomAD rs574728385 2p11.2 2 89221900T> A null N I 53 53 2.0E-4 missense 0.578 possibly damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1478754287 2p11.2 2 89221899A> T null N K 53 53 missense 0.077 benign 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,gnomAD rs574728385 2p11.2 2 89221900T> G null N T 53 53 2.0E-4 missense 0.031 benign 0.03 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,TOPMed,gnomAD rs542262281 2p11.2 2 89221901T> A null N Y 53 53 2.0E-4 missense 0.046 benign 0.06 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1197764739 2p11.2 2 89221897C> T null G E 54 54 missense 0.417 benign 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs748332322 2p11.2 2 89221898C> T null G R 54 54 missense 0.417 benign 0.03 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs768987229 2p11.2 2 89221893G> C null Y * 55 55 stop gained 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs779345144 2p11.2 2 89221895A> C null Y D 55 55 missense 0.003 benign 0.2 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1209828637 2p11.2 2 89221894T> A null Y F 55 55 missense 0.001 benign 0.17 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs779345144 2p11.2 2 89221895A> G null Y H 55 55 missense 0.005 benign 0.12 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs779345144 2p11.2 2 89221895A> T null Y N 55 55 missense 0.0 benign 1.0 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs745707678 2p11.2 2 89221890G> C null N K 56 56 missense 0.146 benign 0.06 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1282835791 2p11.2 2 89221891T> G null N T 56 56 missense 0.0 benign 1.0 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs781105096 2p11.2 2 89221889A> G null Y H 57 57 missense 0.513 possibly damaging 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1232399436 2p11.2 2 89221886A> C null L V 58 58 missense 0.469 possibly damaging 0.05 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1192496429 2p11.2 2 89221881A> T null D E 59 59 missense 0.0 benign 0.39 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1435619203 2p11.2 2 89221882T> C null D G 59 59 missense 0.069 benign 0.15 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs751468055 2p11.2 2 89221883C> T null D N 59 59 missense 0.0 benign 1.0 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs751468055 2p11.2 2 89221883C> A null D Y 59 59 missense 0.001 benign 0.58 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1316184501 2p11.2 2 89221878C> T null W * 60 60 stop gained 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1387794066 2p11.2 2 89221880A> G null W R 60 60 missense 0.878 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1415647947 2p11.2 2 89221876T> A null Y F 61 61 missense 0.01 benign 0.22 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes rs556846588 2p11.2 2 89221870T> C null Q R 63 63 2.0E-4 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes rs544576091 2p11.2 2 89221867T> C null K R 64 64 2.0E-4 missense 0.139 benign 0.09 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs992439931 2p11.2 2 89221865G> A null P S 65 65 missense 0.186 benign 0.07 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1391700890 2p11.2 2 89221862C> A null G W 66 66 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,TOPMed,gnomAD rs201820758 2p11.2 2 89221859G> T null Q K 67 67 0.01518 missense 0.079 benign 0.04 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1240830629 2p11.2 2 89221858T> C null Q R 67 67 missense 0.071 benign 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1212897139 2p11.2 2 89221856A> G null S P 68 68 missense 0.015 benign 0.18 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs764924096 2p11.2 2 89221848C> G null Q H 70 70 missense 0.012 benign 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs764924096 2p11.2 2 89221848C> A null Q H 70 70 missense 0.012 benign 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs752140003 2p11.2 2 89221849T> A null Q L 70 70 missense 0.078 benign 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs759163606 2p11.2 2 89221847G> C null L V 71 71 missense 0.017 benign 0.04 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1228831027 2p11.2 2 89221841T> G null I L 73 73 missense 0.18 benign 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1228831027 2p11.2 2 89221841T> C null I V 73 73 missense 0.398 benign 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1361055712 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89221837T> C null Y C 74 74 missense 0.675 possibly damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1361055712 2p11.2 2 89221837T> A null Y F 74 74 missense 0.149 benign 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs766687325 2p11.2 2 89221835A> T null L M 75 75 missense 0.01 benign 0.24 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,NCI-TCGA,TOPMed,gnomAD rs766687325 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89221835A> C null L V 75 75 missense 0.0 benign 0.56 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1450147939 2p11.2 2 89221834A> C null L W 75 75 missense 0.005 benign 0.2 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs761108266 2p11.2 2 89221831C> G null G A 76 76 missense 0.0 benign 1.0 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1340482418 2p11.2 2 89221832C> T null G S 76 76 missense 0.007 benign 0.06 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs761108266 2p11.2 2 89221831C> A null G V 76 76 missense 0.009 benign 1.0 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,gnomAD rs534097180 2p11.2 2 89221826T> C null N D 78 78 2.0E-4 missense 0.026 benign 0.03 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs772452926 2p11.2 2 89221825T> C null N S 78 78 missense 0.006 benign 0.24 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,gnomAD rs534097180 2p11.2 2 89221826T> A null N Y 78 78 2.0E-4 missense 0.092 benign 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ESP,ExAC,TOPMed,gnomAD rs200881242 2p11.2 2 89221822C> T null R Q 79 79 missense 0.021 benign 0.07 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1429466780 2p11.2 2 89221823G> A null R W 79 79 missense 0.046 benign 0.03 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199917475 2p11.2 2 89221820C> A null A S 80 80 0.008986 missense 0.037 benign 0.4 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,TOPMed,gnomAD rs553434135 2p11.2 2 89221814C> T null G R 82 82 2.0E-4 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1488506323 2p11.2 2 89221813C> A null G V 82 82 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,TOPMed,gnomAD rs553434135 2p11.2 2 89221814C> A null G W 82 82 2.0E-4 missense 0.854 possibly damaging 0.03 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs746928419 2p11.2 2 89221810A> G null V A 83 83 missense 0.532 possibly damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs770705903 2p11.2 2 89221811C> A null V F 83 83 missense 0.734 possibly damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs770705903 2p11.2 2 89221811C> T null V I 83 83 missense 0.095 benign 0.15 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1204729100 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89221808G> A null P S 84 84 missense 0.226 benign 0.13 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1306644462 2p11.2 2 89221805C> T null D N 85 85 missense 0.074 benign 0.05 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs777828979 2p11.2 2 89221801C> T null R K 86 86 missense 0.5 possibly damaging 0.04 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed,gnomAD rs1229890796 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89221799A> G null F L 87 87 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs758251490 2p11.2 2 89221795C> A null S I 88 88 missense 0.262 benign 0.04 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1292653684 2p11.2 2 89221792C> T null G D 89 89 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 Ensembl rs1393089932 2p11.2 2 89221786C> T null G E 91 91 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1187705131 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89221780C> T null G D 93 93 missense 0.271 benign 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs754654638 2p11.2 2 89221777G> C null T R 94 94 missense 0.545 possibly damaging 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1412352920 2p11.2 2 89221778T> A null T S 94 94 missense 0.102 benign 0.04 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1466386564 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89221775C> T null D N 95 95 missense 0.409 benign 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1167330611 2p11.2 2 89221766G> T null L M 98 98 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs766744313 2p11.2 2 89221765A> G null L P 98 98 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1413663911 2p11.2 2 89221763T> G null K Q 99 99 missense 0.02 benign 0.1 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1382505615 2p11.2 2 89221760T> C null I V 100 100 missense 0.527 possibly damaging 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,TOPMed,gnomAD rs535461832 2p11.2 2 89221756C> A null S I 101 101 2.0E-4 missense 0.734 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes,ExAC,TOPMed,gnomAD rs535461832 2p11.2 2 89221756C> T null S N 101 101 2.0E-4 missense 0.057 benign 0.07 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1252639050 2p11.2 2 89221755G> T null S R 101 101 missense 0.613 possibly damaging 0.02 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs750740201 2p11.2 2 89221750A> G null V A 103 103 missense 0.789 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes rs567957483 2p11.2 2 89221751C> T null V M 103 103 2.0E-4 missense 0.678 possibly damaging 0.05 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes rs550086913 2p11.2 2 89221745C> G null A P 105 105 2.0E-4 missense 0.026 benign 0.22 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1322151230 2p11.2 2 89221737A> T null D E 107 107 missense 0.687 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 gnomAD rs1223472631 2p11.2 2 89221738T> C null D G 107 107 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1358922230 2p11.2 2 89221739C> T null D N 107 107 missense 0.866 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1358922230 2p11.2 2 89221739C> A null D Y 107 107 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs762193915 2p11.2 2 89221732C> T null G E 109 109 missense 0.542 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1397845396 2p11.2 2 89221730C> T null V I 110 110 missense 0.015 benign 0.14 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 1000Genomes rs570710409 2p11.2 2 89221726T> C null Y C 111 111 2.0E-4 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs984686349 2p11.2 2 89221727A> G null Y H 111 111 missense 0.813 possibly damaging 0.01 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs774601987 2p11.2 2 89221721A> C null C G 113 113 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs774601987 2p11.2 2 89221721A> G null C R 113 113 missense 0.769 possibly damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 Ensembl rs1558733229 2p11.2 2 89221715G> T null Q K 115 115 missense 0.299 benign 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 TOPMed rs1311409607 2p11.2 2 89221712C> T null A T 116 116 missense 0.001 benign 0.28 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs764217660 2p11.2 2 89221705T> A null Q L 118 118 missense 0.001 benign 0.07 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,gnomAD rs775784033 2p11.2 2 89221702G> A null T I 119 119 missense 0.001 benign 0.38 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,NCI-TCGA,gnomAD rs763278232 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89221703T> A null T S 119 119 missense 0.0 benign 0.44 tolerated 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs769899237 2p11.2 2 89221699G> T null P H 120 120 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs769899237 2p11.2 2 89221699G> A null P L 120 120 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P5 IGKV2-28 Immunoglobulin kappa variable 2-28 ExAC,TOPMed,gnomAD rs769899237 2p11.2 2 89221699G> C null P R 120 120 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs767080993 20q13.13 20 51010332G> T null L I 3 3 missense 0.232 benign 0.17 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1187419187 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418,cosmic_study:419 20q13.13 20 51010325G> A null P L 5 5 missense 0.089 benign 0.01 deleterious 1 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs988882138 20q13.13 20 51010320C> T null D N 7 7 missense 0.0 benign 0.16 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1353919409 20q13.13 20 51010307T> C null Y C 11 11 missense 0.627 possibly damaging 0.11 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed,gnomAD rs1462201003 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.13 20 51010305C> T null D N 12 12 missense 0.594 possibly damaging 0.01 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed,gnomAD rs1462201003 20q13.13 20 51010305C> A null D Y 12 12 missense 0.034 benign 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs766155892 20q13.13 20 51010297G> T null S R 14 14 missense 0.796 possibly damaging 0.02 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs773106992 20q13.13 20 51010289C> T null S N 17 17 missense 0.67 possibly damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1373644219 20q13.13 20 51010277T> C null D G 21 21 missense 0.184 benign 0.11 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1318361829 20q13.13 20 51010268A> G null F S 24 24 missense 0.0 benign 0.18 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs772208137 20q13.13 20 51010262G> A null P L 26 26 missense 0.0 benign 0.18 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs772208137 20q13.13 20 51010262G> C null P R 26 26 missense 0.0 benign 0.11 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1304598504 20q13.13 20 51010251G> T null P T 30 30 missense 0.012 benign 0.08 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs771399675 20q13.13 20 51010232T> G null K T 36 36 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1388696397 20q13.13 20 51010229C> G null G A 37 37 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs985715958 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.13 20 51010227C> T null A T 38 38 missense 0.018 benign 0.02 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1445698303 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 20q13.13 20 51010217C> T null R H 41 41 missense 0.015 benign 0.05 tolerated 1 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1188405230 20q13.13 20 51010218G> T null R S 41 41 missense 0.02 benign 0.09 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1392953285 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 20q13.13 20 51010214C> T null R Q 42 42 missense 0.557 possibly damaging 0.02 deleterious 1 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1201625415 20q13.13 20 51010209G> T null Q K 44 44 missense 0.007 benign 0.45 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1488203466 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.13 20 51010199C> T null R Q 47 47 missense 0.001 benign 0.3 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1481970538 20q13.13 20 51010200G> A null R W 47 47 missense 0.001 benign 0.18 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs919816936 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:452 20q13.13 20 51010196G> A null P L 48 48 missense 0.206 benign 0.06 tolerated 1 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs919816936 20q13.13 20 51010196G> T null P Q 48 48 missense 0.071 benign 0.1 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs778419121 20q13.13 20 51010192C> G null Q H 49 49 missense 0.001 benign 0.13 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs548363128 20q13.13 20 51010185G> C null P A 52 52 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs747674837 20q13.13 20 51010181C> T null R H 53 53 missense 0.0 benign 0.54 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs747674837 20q13.13 20 51010181C> A null R L 53 53 missense 0.0 benign 0.65 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1227406111 20q13.13 20 51010178T> C null Q R 54 54 missense 0.011 benign 0.54 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs754614377 20q13.13 20 51010175C> T null G D 55 55 missense 0.0 benign 0.23 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1406708634 20q13.13 20 51010173A> T null C S 56 56 missense 0.0 benign 0.66 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs766134943 20q13.13 20 51010172C> G null C S 56 56 missense 0.0 benign 0.66 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs758172905 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 20q13.13 20 51010170G> A null Q * 57 57 stop gained 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs758172905 20q13.13 20 51010170G> T null Q K 57 57 missense 0.0 benign 0.32 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1433310888 20q13.13 20 51010157C> T null R H 61 61 missense 0.006 benign 0.62 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1168290018 20q13.13 20 51010158G> T null R S 61 61 missense 0.115 benign 0.45 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1445642819 20q13.13 20 51010154C> T null R H 62 62 missense 0.416 benign 0.06 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs765174727 20q13.13 20 51010152G> A null R C 63 63 missense 0.696 possibly damaging 0.02 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs775466736 20q13.13 20 51010148C> T null R Q 64 64 missense 0.0 benign 0.68 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs761694072 NCI-TCGA Cosmic [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:21984974,pubmed:22895193,cosmic_study:357,cosmic_study:419,cosmic_study:452 20q13.13 20 51010149G> A null R W 64 64 missense 0.205 benign 0.08 tolerated 1 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs759726603 20q13.13 20 51010146T> A null I F 65 65 missense 0.821 possibly damaging 0.01 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1363122904 20q13.13 20 51010143T> C null I V 66 66 missense 0.264 benign 0.3 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs774621397 20q13.13 20 51010135G> C null N K 68 68 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1216780665 20q13.13 20 51010136T> G null N T 68 68 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs994937112 20q13.13 20 51010125T> G null I L 72 72 missense 0.029 benign 0.83 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs963065904 20q13.13 20 51010121T> C null K R 73 73 missense 0.024 benign 1.0 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1242505869 20q13.13 20 51010118T> A null Y F 74 74 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed,gnomAD rs981554195 20q13.13 20 51010100G> A null T M 80 80 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1486075250 20q13.13 20 51010080T> C null T A 87 87 missense 0.302 benign 0.01 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1161897512 20q13.13 20 51010058G> C null A G 94 94 missense 0.007 benign 0.35 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1393308724 20q13.13 20 51010059C> T null A T 94 94 missense 0.026 benign 0.4 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs17854404 20q13.13 20 51010043T> C null D G 99 99 missense 0.842 possibly damaging 0.01 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs895656540 20q13.13 20 51010038T> G null I L 101 101 missense 0.812 possibly damaging 0.02 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1022678362 20q13.13 20 51009983C> T null R H 119 119 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs757228703 20q13.13 20 51009981T> G null N H 120 120 missense 0.031 benign 0.1 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1355482872 20q13.13 20 51009975C> T null G R 122 122 missense 0.752 possibly damaging 0.24 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs767553295 20q13.13 20 51009966C> G null G R 125 125 missense 0.017 benign 1.0 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) 1000Genomes,ExAC,gnomAD rs550952459 20q13.13 20 51009963T> A null T S 126 126 2.0E-4 missense 0.14 benign 0.17 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1386260978 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.13 20 51009945G> A null R C 132 132 missense 0.93 probably damaging 0.01 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1161962587 20q13.13 20 51009944C> A null R L 132 132 missense 0.454 possibly damaging 0.02 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs1001316061 20q13.13 20 51009941G> A null A V 133 133 missense 0.325 benign 0.07 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs999052785 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.13 20 51009921G> A null R C 140 140 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs779492868 20q13.13 20 51009916C> G null E D 141 141 missense 0.282 benign 0.07 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs746545224 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 20q13.13 20 51009918C> T null E K 141 141 missense 0.952 probably damaging 0.0 deleterious 1 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs746545224 20q13.13 20 51009918C> G null E Q 141 141 missense 0.906 possibly damaging 0.06 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1285299996 20q13.13 20 51009913C> T null M I 142 142 missense 0.771 possibly damaging 0.01 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143925114 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 20q13.13 20 51009910G> T null C * 143 143 7.99E-4 missense 1 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1248457735 20q13.13 20 51009911C> T null C Y 143 143 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs745493171 20q13.13 20 51009908G> T null A E 144 144 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1463537606 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 20q13.13 20 51009909C> T null A T 144 144 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs757061824 20q13.13 20 51009896T> C null Q R 148 148 missense 0.009 benign 0.69 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs944101242 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.13 20 51009870C> T null A T 157 157 missense 0.22 benign 0.04 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1323040650 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 20q13.13 20 51009869G> A null A V 157 157 missense 0.278 benign 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs1427125504 20q13.13 20 51009861G> C null H D 160 160 missense 0.034 benign 0.05 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs142905098 20q13.13 20 51009851C> T null G D 163 163 missense 0.158 benign 0.27 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs755946302 20q13.13 20 51009852C> G null G R 163 163 missense 0.012 benign 0.77 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs755946302 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 20q13.13 20 51009852C> T null G S 163 163 missense 0.166 benign 0.37 tolerated 1 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1170416216 20q13.13 20 51009846A> G null C R 165 165 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs371897254 20q13.13 20 51009840G> T null R S 167 167 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1477524044 cosmic curated [Cosmic]: pancreas cosmic_study:382 20q13.13 20 51009837G> A null R C 168 168 missense 0.886 possibly damaging 0.0 deleterious 1 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl,NCI-TCGA rs17791076 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 20q13.13 20 51009834A> G null Y H 169 169 missense 0.593 possibly damaging 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs985663437 20q13.13 20 51009826C> A null Q H 171 171 missense 0.005 benign 0.21 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed,gnomAD rs1447516092 20q13.13 20 51009821A> G null I T 173 173 missense 0.009 benign 0.17 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs138881455 20q13.13 20 51009813A> G null F L 176 176 missense 0.0 benign 1.0 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs150199364 20q13.13 20 51009810C> T null A T 177 177 missense 0.033 benign 0.08 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1343226866 20q13.13 20 51009804T> A null M L 179 179 missense 0.0 benign 0.98 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1300191380 20q13.13 20 51009798C> A null E * 181 181 stop gained 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1315371780 20q13.13 20 51009792C> G null E Q 183 183 missense 0.061 benign 0.11 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed,gnomAD rs1316395629 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.13 20 51009789C> T null E K 184 184 missense 0.031 benign 0.09 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs775025552 20q13.13 20 51009786C> T null E K 185 185 missense 0.06 benign 0.15 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs771551500 20q13.13 20 51009780C> G null D H 187 187 missense 0.402 benign 0.08 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ESP,ExAC,gnomAD rs367782891 20q13.13 20 51009777C> T null A T 188 188 missense 0.011 benign 0.74 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) 1000Genomes,ExAC,gnomAD rs561547195 20q13.13 20 51009773A> G null L P 189 189 2.0E-4 missense 0.001 benign 0.39 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1370797313 20q13.13 20 51009768T> C null S G 191 191 missense 0.005 benign 0.37 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs148122248 20q13.13 20 51009763C> A null E D 192 192 missense 0.0 benign 0.41 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs749121193 20q13.13 20 51009762C> G null G R 193 193 missense 0.0 benign 0.52 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1389368480 20q13.13 20 51009761C> A null G V 193 193 missense 0.0 benign 0.28 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1375854461 20q13.13 20 51009759G> A null R C 194 194 missense 0.339 benign 0.12 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs756107887 20q13.13 20 51009758C> T null R H 194 194 missense 0.11 benign 0.15 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1014552955 20q13.13 20 51009754G> C null D E 195 195 missense 0.0 benign 1.0 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ESP,TOPMed,gnomAD rs373738017 20q13.13 20 51009756C> G null D H 195 195 missense 0.246 benign 0.11 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ESP,TOPMed,gnomAD rs373738017 20q13.13 20 51009756C> A null D Y 195 195 missense 0.307 benign 0.03 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs541520023 20q13.13 20 51009752C> A null S I 196 196 2.0E-4 missense 0.017 benign 0.15 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs541520023 20q13.13 20 51009752C> T null S N 196 196 2.0E-4 missense 0.0 benign 0.47 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1346904124 20q13.13 20 51009751G> T null S R 196 196 missense 0.031 benign 0.45 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs758535441 20q13.13 20 51009746C> A null G V 198 198 missense 0.0 benign 0.31 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs1568799042 20q13.13 20 51009743G> A null P L 199 199 missense 0.0 benign 0.09 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs1568799042 20q13.13 20 51009743G> T null P Q 199 199 missense 0.034 benign 0.22 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs1568799042 20q13.13 20 51009743G> C null P R 199 199 missense 0.024 benign 0.07 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1282465857 20q13.13 20 51009744G> A null P S 199 199 missense 0.0 benign 0.14 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed,gnomAD rs1291103932 20q13.13 20 51009738C> T null E K 201 201 missense 0.0 benign 0.72 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs754262343 20q13.13 20 51009732C> T null E K 203 203 missense 0.0 benign 0.54 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371392489 20q13.13 20 51009726G> A null R C 205 205 missense 0.556 possibly damaging 0.01 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368678625 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 20q13.13 20 51009725C> T null R H 205 205 missense 0.007 benign 0.04 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs1568798962 20q13.13 20 51009722A> G null L P 206 206 missense 0.206 benign 0.13 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs770638495 cosmic curated [Cosmic]: pancreas pubmed:24293293,cosmic_study:529 20q13.13 20 51009717G> A null R C 208 208 missense 0.339 benign 0.09 tolerated 1 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) Ensembl rs905675787 20q13.13 20 51009716C> T null R H 208 208 missense 0.0 benign 0.28 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,TOPMed,gnomAD rs770638495 20q13.13 20 51009717G> T null R S 208 208 missense 0.007 benign 0.77 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs748849833 20q13.13 20 51009707C> T null R Q 211 211 missense 0.018 benign 0.49 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1406953078 20q13.13 20 51009708G> A null R W 211 211 missense 0.009 benign 0.09 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1162689511 [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 20q13.13 20 51009705G> A null R * 212 212 stop gained 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1472979684 20q13.13 20 51009704C> G null R P 212 212 missense 0.259 benign 0.07 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed,gnomAD rs1482886806 20q13.13 20 51009691C> A null M I 216 216 missense 0.041 benign 0.03 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed,gnomAD rs1482886806 20q13.13 20 51009691C> T null M I 216 216 missense 0.041 benign 0.03 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs773099962 20q13.13 20 51009693T> G null M L 216 216 missense 0.155 benign 0.01 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs748151012 20q13.13 20 51009676G> T null H Q 221 221 missense 0.014 benign 0.93 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed,gnomAD rs1233936489 20q13.13 20 51009666G> A null P S 225 225 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1356379118 20q13.13 20 51009660T> G null K Q 227 227 missense 0.78 possibly damaging 0.05 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs754894563 20q13.13 20 51009656A> G null V A 228 228 missense 0.437 benign 0.01 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs915639356 20q13.13 20 51009657C> T null V M 228 228 missense 0.265 benign 0.09 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC rs745955402 20q13.13 20 51009651C> G null A P 230 230 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ESP,ExAC,gnomAD rs374287676 20q13.13 20 51009636G> A null L F 235 235 missense 0.56 possibly damaging 0.03 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1457752627 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.13 20 51009624C> T null V I 239 239 missense 0.0 benign 1.0 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1426159857 20q13.13 20 51009618C> T null A T 241 241 missense 0.581 possibly damaging 0.04 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1246541326 20q13.13 20 51009614A> G null V A 242 242 missense 0.065 benign 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs765775286 20q13.13 20 51009615C> T null V I 242 242 missense 0.001 benign 0.4 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed rs1213945743 20q13.13 20 51009611T> C null N S 243 243 missense 0.019 benign 1.0 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1315910597 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.13 20 51009591G> A null P S 250 250 missense 0.882 possibly damaging 0.04 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) gnomAD rs1301582168 20q13.13 20 51009587C> T null S N 251 251 missense 0.045 benign 0.06 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs747958864 20q13.13 20 51009586G> C null S R 251 251 missense 0.122 benign 0.0 deleterious 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) TOPMed,gnomAD rs1302485629 20q13.13 20 51009577C> A null E D 254 254 missense 0.033 benign 0.28 tolerated 0 A0A075B6P6 KCNG1 Potassium voltage-gated channel subfamily G member 1 (Fragment) ExAC,gnomAD rs776508550 20q13.13 20 51009576C> A null E * 255 255 stop gained 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed,gnomAD rs1189672778 2q11.2 2 96631475C> T null D N 4 4 missense 0.947 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs760552557 2q11.2 2 96631472C> A null V F 5 5 missense 0.896 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs760552557 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 2q11.2 2 96631472C> T null V I 5 5 missense 0.054 benign 0.25 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) gnomAD rs1309244511 2q11.2 2 96631469G> C null P A 6 6 missense 0.835 possibly damaging 0.19 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) gnomAD rs1258642615 2q11.2 2 96631466T> C null I V 7 7 missense 0.101 benign 0.12 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs772826441 2q11.2 2 96631453G> A null T M 11 11 missense 0.459 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs748315929 2q11.2 2 96631447G> A null T I 13 13 missense 0.051 benign 0.01 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,gnomAD rs774529366 2q11.2 2 96631441G> A null T M 15 15 missense 0.912 probably damaging 0.05 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) gnomAD rs1301527505 2q11.2 2 96631438G> A null P L 16 16 missense 0.972 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs780568895 2q11.2 2 96631435A> G null M T 17 17 missense 0.249 benign 0.29 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ESP,ExAC,gnomAD rs374477720 2q11.2 2 96631436T> C null M V 17 17 missense 0.01 benign 0.6 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed rs1290781184 2q11.2 2 96631433G> A null P S 18 18 missense 0.852 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs746180770 2q11.2 2 96631426T> C null Y C 20 20 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs746180770 2q11.2 2 96631426T> G null Y S 20 20 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,gnomAD rs781392878 2q11.2 2 96631422G> T null D E 21 21 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,gnomAD rs758133394 2q11.2 2 96631420T> C null N S 22 22 missense 0.995 probably damaging 0.12 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs752272979 2q11.2 2 96631409G> A null R C 26 26 missense 0.026 benign 0.03 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs539872401 2q11.2 2 96631408C> T null R H 26 26 2.0E-4 missense 0.966 probably damaging 0.01 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs752272979 2q11.2 2 96631409G> T null R S 26 26 missense 0.864 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) gnomAD rs1481493292 2q11.2 2 96631406T> C null S G 27 27 missense 0.57 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs779343378 2q11.2 2 96631403C> A null V L 28 28 missense 0.689 possibly damaging 0.1 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs779343378 2q11.2 2 96631403C> T null V M 28 28 missense 0.459 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) Ensembl rs564167279 2q11.2 2 96631400T> A null M L 29 29 missense 0.924 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) gnomAD rs1456367357 2q11.2 2 96631397T> G null N H 30 30 missense 0.999 probably damaging 0.05 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) gnomAD rs1245608113 2q11.2 2 96631391A> G null C R 32 32 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed rs1482820963 2q11.2 2 96631384C> T null R Q 34 34 missense 0.92 probably damaging 0.01 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) gnomAD rs1225615252 2q11.2 2 96631372A> G null F S 38 38 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,NCI-TCGA,gnomAD rs773126694 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 2q11.2 2 96631363G> C null T S 41 41 missense 0.931 probably damaging 0.06 tolerated - low confidence 1 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) gnomAD rs1397289612 2q11.2 2 96631359A> C null D E 42 42 missense 0.931 probably damaging 0.13 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,gnomAD rs767185136 2q11.2 2 96631351G> A null A V 45 45 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed rs1180817350 2q11.2 2 96631345G> A null P L 47 47 missense 0.979 probably damaging 0.02 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs774457198 2q11.2 2 96631346G> A null P S 47 47 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs774457198 2q11.2 2 96631346G> T null P T 47 47 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201841925 2q11.2 2 96631323C> A null E D 54 54 2.0E-4 missense 0.109 benign 0.12 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,gnomAD rs775488055 2q11.2 2 96631321T> A null H L 55 55 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed rs1358900181 2q11.2 2 96631315T> C null N S 57 57 missense 0.28 benign 0.26 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed rs1358900181 2q11.2 2 96631315T> G null N T 57 57 missense 0.805 possibly damaging 0.07 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed,gnomAD rs1340736892 2q11.2 2 96628647C> A null V F 59 59 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed,gnomAD rs936177608 2q11.2 2 96628644A> G null S P 60 60 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed rs1289546934 2q11.2 2 96628633G> T null H Q 63 63 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) Ensembl rs1558770748 2q11.2 2 96628631G> A null P L 64 64 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) gnomAD rs1421181612 2q11.2 2 96628628T> C null D G 65 65 missense 0.061 benign 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed rs758210555 2q11.2 2 96628625C> T null C Y 66 66 missense 0.066 benign 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed rs1243200605 2q11.2 2 96628617C> A null V L 69 69 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) 1000Genomes,TOPMed rs558578602 2q11.2 2 96628614C> A null A S 70 70 2.0E-4 missense 0.0 benign 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed,gnomAD rs750442719 2q11.2 2 96628611G> A null R * 71 71 stop gained 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) 1000Genomes,TOPMed,gnomAD rs538754423 2q11.2 2 96628599T> A null T S 75 75 7.99E-4 missense 0.0 unknown 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed,gnomAD rs371026631 2q11.2 2 96628572C> T null V I 84 84 missense 0.0 benign 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed,gnomAD rs965177529 2q11.2 2 96628081G> C null S C 85 85 missense 0.067 benign 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed,gnomAD rs965177529 2q11.2 2 96628081G> A null S F 85 85 missense 0.02 benign 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) TOPMed,gnomAD rs1018996678 2q11.2 2 96628078A> T null L * 86 86 stop gained 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) ExAC,TOPMed,gnomAD rs753459164 2q11.2 2 96628072G> A null T I 88 88 missense 0.0 unknown 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) Ensembl rs1558768711 2q11.2 2 96628067T> C null T A 90 90 missense 0.0 unknown 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) gnomAD rs1257348359 2q11.2 2 96628053T> G null * C 94 94 stop lost 0 A0A075B6P7 KANSL3 KAT8 regulatory NSL complex subunit 3 (Fragment) gnomAD rs1002862288 2q11.2 2 96628055A> G null * R 94 94 stop lost 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs748566121 10q23.2 10 87358269T> C null F L 2 2 missense 0.801 possibly damaging 0.23 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1202634620 10q23.2 10 87358270T> C null F S 2 2 missense 0.934 probably damaging 0.42 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs770387636 10q23.2 10 87358273A> G null Q R 3 3 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,NCI-TCGA,gnomAD rs773866267 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.2 10 87358275G> A null E K 4 4 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC rs774348852 10q23.2 10 87358279C> T null P L 5 5 missense 0.988 probably damaging 0.13 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC rs774348852 10q23.2 10 87358279C> G null P R 5 5 missense 0.988 probably damaging 0.09 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs771035178 10q23.2 10 87358278C> T null P S 5 5 missense 0.982 probably damaging 1.0 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ESP,ExAC,TOPMed,gnomAD rs373281825 10q23.2 10 87358282T> C null V A 6 6 missense 0.0 benign 0.71 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1219417536 10q23.2 10 87358281G> A null V I 6 6 missense 0.0 benign 0.58 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs760483940 10q23.2 10 87358290C> G null Q E 9 9 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1269673423 10q23.2 10 87358292A> C null Q H 9 9 missense 0.019 benign 0.12 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1434168256 10q23.2 10 87358293A> C null I L 10 10 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs763963181 10q23.2 10 87358294T> C null I T 10 10 missense 0.014 benign 0.03 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1336095744 10q23.2 10 87358296T> A null F I 11 11 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs764790802 10q23.2 10 87358300T> C null L P 12 12 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs779886221 10q23.2 10 87358312A> T null D V 16 16 missense 0.015 benign 0.05 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D Ensembl rs1564646240 10q23.2 10 87358315C> T null S L 17 17 missense 0.003 benign 0.06 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1170249695 10q23.2 10 87358321C> G null A G 19 19 missense 0.025 benign 0.55 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs778345688 10q23.2 10 87358320G> A null A T 19 19 missense 0.052 benign 0.45 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs749785085 10q23.2 10 87358323T> C null S P 20 20 missense 0.041 benign 0.14 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs749785085 10q23.2 10 87358323T> A null S T 20 20 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1302311375 10q23.2 10 87358327G> A null G D 21 21 missense 0.041 benign 0.07 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs774458125 10q23.2 10 87358336G> C null G A 24 24 missense 0.005 benign 0.21 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1376990687 10q23.2 10 87358335G> C null G R 24 24 missense 0.033 benign 0.02 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs745964774 10q23.2 10 87358338C> G null H D 25 25 missense 0.012 benign 0.02 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1316864989 10q23.2 10 87358340C> G null H Q 25 25 missense 0.018 benign 0.14 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs745964774 10q23.2 10 87358338C> T null H Y 25 25 missense 0.068 benign 0.0 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs775704606 10q23.2 10 87358342C> T null S F 26 26 missense 0.045 benign 0.0 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs772231933 10q23.2 10 87358341T> C null S P 26 26 missense 0.02 benign 0.01 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs772231933 10q23.2 10 87358341T> A null S T 26 26 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs760398109 10q23.2 10 87358345T> C null L P 27 27 missense 0.348 benign 0.0 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs763872970 10q23.2 10 87358347G> T null G C 28 28 missense 0.685 possibly damaging 0.06 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs776349003 10q23.2 10 87358348G> A null G D 28 28 missense 0.344 benign 0.14 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs765132053 10q23.2 10 87358354C> T null T I 30 30 missense 0.005 benign 0.07 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs765132053 10q23.2 10 87358354C> G null T S 30 30 missense 0.003 benign 0.59 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1165461937 10q23.2 10 87358357T> G null L R 31 31 missense 0.193 benign 0.0 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1459741220 10q23.2 10 87358362T> C null F L 33 33 missense 0.018 benign 0.13 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1339842936 10q23.2 10 87358366C> T null S F 34 34 missense 0.061 benign 0.02 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ESP,ExAC,TOPMed,gnomAD rs367592491 10q23.2 10 87358369A> T null H L 35 35 missense 0.702 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ESP,ExAC,TOPMed,gnomAD rs367592491 10q23.2 10 87358369A> G null H R 35 35 missense 0.702 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2767101 10q23.2 10 87358368C> T null H Y 35 35 0.2624 missense 0.607 possibly damaging 0.21 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1448290161 10q23.2 10 87358371T> C null C R 36 36 missense 0.919 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs754731285 10q23.2 10 87358373T> G null C W 36 36 missense 0.938 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1277296948 10q23.2 10 87358372G> A null C Y 36 36 missense 0.919 probably damaging 0.0 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ESP,ExAC,gnomAD rs370321410 10q23.2 10 87358375G> A null G E 37 37 missense 0.453 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1407811793 10q23.2 10 87358377A> C null N H 38 38 missense 0.633 possibly damaging 0.11 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs779307861 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 10q23.2 10 87358382C> A null C * 39 39 missense 1 A0A075B6P9 NUTM2D NUT family member 2D ESP,ExAC,TOPMed,gnomAD rs375043322 10q23.2 10 87358380T> C null C R 39 39 missense 0.181 benign 0.23 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1351358232 10q23.2 10 87358383C> A null Q K 40 40 missense 0.005 benign 0.29 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs745901252 10q23.2 10 87358386A> G null T A 41 41 missense 0.01 benign 0.3 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs772144293 10q23.2 10 87358387C> T null T I 41 41 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs772144293 10q23.2 10 87358387C> A null T K 41 41 missense 0.017 benign 0.24 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs780175654 10q23.2 10 87358390C> T null A V 42 42 missense 0.0 benign 0.47 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1232354382 10q23.2 10 87358392G> T null V L 43 43 missense 0.059 benign 0.07 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs776458645 10q23.2 10 87358395G> A null V I 44 44 missense 0.005 benign 0.82 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1474071310 10q23.2 10 87358402C> A null A D 46 46 missense 0.007 benign 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1474071310 10q23.2 10 87358402C> T null A V 46 46 missense 0.001 benign 0.18 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1423843062 10q23.2 10 87358405A> T null Q L 47 47 missense 0.096 benign 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs773040269 10q23.2 10 87358411A> G null E G 49 49 missense 0.139 benign 0.07 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1326500341 10q23.2 10 87358410G> C null E Q 49 49 missense 0.25 benign 0.22 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1448203366 10q23.2 10 87358414G> A null G E 50 50 missense 0.592 possibly damaging 0.56 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs763048167 10q23.2 10 87358418G> A null M I 51 51 missense 0.035 benign 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs887471702 10q23.2 10 87358417T> G null M R 51 51 missense 0.201 benign 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs887471702 10q23.2 10 87358417T> C null M T 51 51 missense 0.058 benign 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1279204775 10q23.2 10 87358419G> C null A P 52 52 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D Ensembl rs1335679343 10q23.2 10 87358428G> A null G R 55 55 missense 0.262 benign 0.2 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1331084566 10q23.2 10 87360483T> A null Y N 57 57 missense 0.275 benign 0.09 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1433637420 10q23.2 10 87360490C> A null A E 59 59 missense 0.092 benign 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1433637420 10q23.2 10 87360490C> T null A V 59 59 missense 0.0 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1387794437 10q23.2 10 87360499C> T null P L 62 62 missense 0.185 benign 0.08 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1318111945 10q23.2 10 87360504G> A null V M 64 64 missense 0.013 benign 0.93 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs767137862 10q23.2 10 87360508C> A null T N 65 65 missense 0.94 probably damaging 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs760443878 10q23.2 10 87360510G> T null A S 66 66 missense 0.003 benign 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs760443878 10q23.2 10 87360510G> A null A T 66 66 missense 0.0 benign 0.15 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1273625113 10q23.2 10 87360511C> T null A V 66 66 missense 0.0 benign 0.45 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1240971552 10q23.2 10 87360525T> C null S P 71 71 missense 0.982 probably damaging 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1352773117 10q23.2 10 87360541C> T null T M 76 76 missense 0.161 benign 0.22 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1337086737 10q23.2 10 87360556C> T null T I 81 81 missense 0.009 benign 0.05 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1452026803 10q23.2 10 87360564G> A null A T 84 84 missense 0.003 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1215174531 10q23.2 10 87360570G> A null G S 86 86 missense 0.035 benign 0.15 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs758873252 10q23.2 10 87360576G> A null A T 88 88 missense 0.009 benign 0.57 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs780573235 10q23.2 10 87360579C> T null H Y 89 89 missense 0.953 probably damaging 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs755029944 10q23.2 10 87360582G> A null G R 90 90 missense 0.003 benign 0.64 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1469028602 10q23.2 10 87360586C> T null P L 91 91 missense 0.009 benign 0.11 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs748301881 10q23.2 10 87360591C> T null L F 93 93 missense 0.966 probably damaging 0.38 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1394039528 10q23.2 10 87360604G> A null G E 97 97 missense 0.222 benign 0.2 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs200869917 10q23.2 10 87360603G> C null G R 97 97 7.99E-4 missense 0.474 possibly damaging 0.25 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,TOPMed,gnomAD rs566638373 10q23.2 10 87360618G> A null G S 102 102 2.0E-4 missense 0.129 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs534060600 10q23.2 10 87360627G> T null V L 105 105 3.99E-4 missense 0.596 possibly damaging 0.42 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1334098057 10q23.2 10 87360631T> C null L P 106 106 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs200543848 10q23.2 10 87360637A> T null N I 108 108 0.03375 missense 0.0 benign 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs200543848 10q23.2 10 87360637A> C null N T 108 108 0.03375 missense 0.0 benign 0.15 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs201627856 10q23.2 10 87360639T> C null F L 109 109 0.08526 missense 0.05 benign 0.32 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1382071551 10q23.2 10 87360643C> A null P H 110 110 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1314351696 10q23.2 10 87360666C> T null Q * 118 118 stop gained 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1173456015 10q23.2 10 87360682C> T null P L 123 123 missense 0.021 benign 0.09 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1375354398 10q23.2 10 87360690G> A null A T 126 126 missense 0.133 benign 0.3 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs775126077 10q23.2 10 87360691C> T null A V 126 126 missense 0.641 possibly damaging 0.09 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs763848813 10q23.2 10 87360693G> A null G R 127 127 missense 0.086 benign 0.1 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1435628332 10q23.2 10 87360696G> T null A S 128 128 missense 0.481 possibly damaging 0.05 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1435628332 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.2 10 87360696G> A null A T 128 128 missense 0.892 possibly damaging 0.2 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs773528591 10q23.2 10 87360705G> A null V I 131 131 missense 0.232 benign 0.41 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs773528591 10q23.2 10 87360705G> C null V L 131 131 missense 0.685 possibly damaging 0.18 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1369553079 10q23.2 10 87360708T> A null F I 132 132 missense 0.012 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs202030686 10q23.2 10 87360736C> T null P L 141 141 9.98E-4 missense 0.576 possibly damaging 0.1 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1417364221 10q23.2 10 87360738G> A null V M 142 142 missense 0.953 probably damaging 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs766815929 10q23.2 10 87360745C> A null A D 144 144 missense 0.371 benign 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs556823842 10q23.2 10 87360754C> T null A V 147 147 2.0E-4 missense 0.006 benign 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs755563641 10q23.2 10 87360760C> A null T N 149 149 missense 0.269 benign 0.41 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1390899832 10q23.2 10 87360759A> C null T P 149 149 missense 0.973 probably damaging 0.05 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1333957569 10q23.2 10 87360766T> G null V G 151 151 missense 0.725 possibly damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1291178642 10q23.2 10 87360765G> A null V I 151 151 missense 0.023 benign 0.48 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs184979059 10q23.2 10 87360777A> G null T A 155 155 missense 0.001 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1258767528 10q23.2 10 87360778C> T null T I 155 155 missense 0.146 benign 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1186470815 10q23.2 10 87360781C> A null P H 156 156 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ESP,ExAC,TOPMed,gnomAD rs372405412 10q23.2 10 87360786G> A null V I 158 158 missense 0.006 benign 0.27 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs757120615 10q23.2 10 87360804G> A null A T 164 164 missense 0.015 benign 0.27 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs778917704 10q23.2 10 87360813G> A null G R 167 167 missense 0.914 probably damaging 0.09 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs200161393 10q23.2 10 87360820T> A null V D 169 169 0.001198 missense 0.977 probably damaging 0.16 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs745781828 10q23.2 10 87360819G> C null V L 169 169 missense 0.066 benign 0.29 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1354575646 10q23.2 10 87360829C> T null P L 172 172 missense 0.796 possibly damaging 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1311057034 10q23.2 10 87360828C> T null P S 172 172 missense 0.845 possibly damaging 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs774832303 10q23.2 10 87360841T> C null L P 176 176 missense 0.006 benign 0.12 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs746561429 10q23.2 10 87360846G> C null A P 178 178 missense 0.966 probably damaging 0.21 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs746561429 10q23.2 10 87360846G> A null A T 178 178 missense 0.227 benign 0.72 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1324345019 10q23.2 10 87360853C> A null A D 180 180 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1190224428 10q23.2 10 87360852G> A null A T 180 180 missense 0.853 possibly damaging 0.21 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs776281959 10q23.2 10 87360872G> A null M I 186 186 missense 0.005 benign 0.38 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs768251358 10q23.2 10 87360870A> G null M V 186 186 missense 0.02 benign 0.74 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs763240880 10q23.2 10 87360877C> T null A V 188 188 missense 0.009 benign 0.07 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs766729809 10q23.2 10 87360894A> C null T P 194 194 missense 0.782 possibly damaging 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1439369306 10q23.2 10 87360900G> A null A T 196 196 missense 0.956 probably damaging 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs139769515 10q23.2 10 87360904G> C null C S 197 197 0.1671 missense 0.075 benign 0.61 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1194978866 10q23.2 10 87360909G> A null G R 199 199 missense 0.551 possibly damaging 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC rs759925455 10q23.2 10 87360910G> T null G V 199 199 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed rs768097173 10q23.2 10 87360913G> A null G D 200 200 missense 0.462 possibly damaging 0.1 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1274956423 10q23.2 10 87360919C> A null S Y 202 202 missense 0.94 probably damaging 0.59 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1233437477 10q23.2 10 87360930C> T null P S 206 206 missense 0.042 benign 0.1 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs752667380 10q23.2 10 87360937C> T null P L 208 208 missense 0.991 probably damaging 0.24 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1396955479 10q23.2 10 87360939C> A null P T 209 209 missense 0.921 probably damaging 0.4 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1335951849 10q23.2 10 87360945C> T null P S 211 211 missense 0.033 benign 0.07 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1433010247 10q23.2 10 87360952C> T null P L 213 213 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1171606286 10q23.2 10 87360955C> T null A V 214 214 missense 0.69 possibly damaging 0.09 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1471301847 10q23.2 10 87360997C> G null P R 228 228 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1233641613 10q23.2 10 87360999T> C null W R 229 229 missense 0.931 probably damaging 0.91 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1454076731 10q23.2 10 87361009G> A null G E 232 232 missense 0.992 probably damaging 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1162931907 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.2 10 87361017G> A null G R 235 235 missense 0.172 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1254818059 10q23.2 10 87361020G> A null E K 236 236 missense 0.355 benign 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1382557258 10q23.2 10 87361021A> T null E V 236 236 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs200537026 10q23.2 10 87361023G> A null G S 237 237 missense 0.813 possibly damaging 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1303763481 10q23.2 10 87361051C> T null A V 246 246 missense 0.407 benign 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1372460061 10q23.2 10 87361054C> T null P L 247 247 missense 0.167 benign 0.2 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1231458445 10q23.2 10 87361068T> C null C R 252 252 missense 0.022 benign 0.07 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1303252971 10q23.2 10 87361078G> A null R K 255 255 missense 0.0 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1318081966 10q23.2 10 87361081G> A null S N 256 256 missense 0.813 possibly damaging 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1218613970 10q23.2 10 87361083G> A null V I 257 257 missense 0.943 probably damaging 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1259313926 10q23.2 10 87361087A> G null Y C 258 258 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1485780995 10q23.2 10 87361098C> T null R * 262 262 stop gained 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1214551308 10q23.2 10 87361099G> A null R Q 262 262 missense 0.14 benign 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1349775245 10q23.2 10 87361117A> G null K R 268 268 missense 0.885 possibly damaging 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1452592274 10q23.2 10 87361126C> A null A D 271 271 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1424321817 10q23.2 10 87361129G> T null R L 272 272 missense 0.626 possibly damaging 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1424321817 10q23.2 10 87361129G> A null R Q 272 272 missense 0.098 benign 0.07 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs757609375 10q23.2 10 87361128C> T null R W 272 272 missense 0.033 benign 0.1 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1161263059 10q23.2 10 87361133G> C null R S 273 273 missense 0.982 probably damaging 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1409068958 10q23.2 10 87361137C> T null L F 275 275 missense 0.988 probably damaging 0.1 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1452871815 10q23.2 10 87361138T> A null L H 275 275 missense 0.334 benign 0.18 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs572657434 10q23.2 10 87361146A> G null S G 278 278 3.99E-4 missense 0.775 possibly damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1254592934 10q23.2 10 87361155A> G null T A 281 281 missense 0.355 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs758230831 10q23.2 10 87361158G> T null E * 282 282 stop gained 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,NCI-TCGA,TOPMed,gnomAD rs758230831 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.2 10 87361158G> A null E K 282 282 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,NCI-TCGA,gnomAD rs780066522 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.2 10 87361162C> T null A V 283 283 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs746449730 10q23.2 10 87361164C> T null L F 284 284 missense 0.996 probably damaging 0.08 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1234296169 10q23.2 10 87361168C> T null S L 285 285 missense 0.705 possibly damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1447015683 10q23.2 10 87361167T> C null S P 285 285 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs747773406 10q23.2 10 87361180T> C null I T 289 289 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1455254205 10q23.2 10 87363148C> T null R * 293 293 stop gained 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1229609965 10q23.2 10 87363149G> A null R Q 293 293 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1458650199 10q23.2 10 87363155T> C null L P 295 295 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1238096604 10q23.2 10 87363158C> G null A G 296 296 missense 0.125 benign 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1489470833 10q23.2 10 87363161G> A null R Q 297 297 missense 0.433 benign 0.12 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1289332951 10q23.2 10 87363160C> T null R W 297 297 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1221051500 10q23.2 10 87363164G> C null R P 298 298 missense 0.838 possibly damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1221051500 10q23.2 10 87363164G> A null R Q 298 298 missense 0.024 benign 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1266281516 10q23.2 10 87363163C> T null R W 298 298 missense 0.899 possibly damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1311252139 10q23.2 10 87363173C> T null T I 301 301 missense 0.362 benign 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs976432405 10q23.2 10 87363189G> C null E D 306 306 missense 0.144 benign 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1401257893 10q23.2 10 87363200G> A null R Q 310 310 missense 0.025 benign 0.14 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1376160067 10q23.2 10 87363199C> T null R W 310 310 missense 0.01 benign 0.14 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1259345938 10q23.2 10 87363206T> C null M T 312 312 missense 0.003 benign 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1456111021 10q23.2 10 87363209G> A null R Q 313 313 missense 0.007 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1390765992 10q23.2 10 87363208C> T null R W 313 313 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1362049625 10q23.2 10 87363221A> G null H R 317 317 missense 0.033 benign 0.74 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1474143954 10q23.2 10 87363224C> T null T M 318 318 missense 0.221 benign 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1380238650 10q23.2 10 87363230A> C null N T 320 320 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1435009556 10q23.2 10 87363239G> A null R Q 323 323 missense 0.123 benign 0.07 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1180221949 10q23.2 10 87363238C> T null R W 323 323 missense 0.059 benign 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1190666134 10q23.2 10 87363251A> G null Y C 327 327 missense 0.844 possibly damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1288424700 10q23.2 10 87363253G> A null E K 328 328 missense 0.807 possibly damaging 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1355698482 10q23.2 10 87363260C> T null A V 330 330 missense 0.871 possibly damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1353948513 10q23.2 10 87364343G> A null R Q 367 367 missense 0.001 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs984625669 10q23.2 10 87364825C> A null Y * 380 380 stop gained 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1476170194 10q23.2 10 87364829C> T null P S 382 382 missense 0.701 possibly damaging 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1184453724 10q23.2 10 87364836A> G null K R 384 384 missense 0.753 possibly damaging 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1454386982 10q23.2 10 87364841G> C null G R 386 386 missense 0.855 possibly damaging 0.1 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1374185455 10q23.2 10 87364845C> T null P L 387 387 missense 0.894 possibly damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1176002500 10q23.2 10 87364844C> T null P S 387 387 missense 0.227 benign 0.46 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1414226019 10q23.2 10 87364854C> T null P L 390 390 missense 0.014 benign 0.32 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1414226019 10q23.2 10 87364854C> A null P Q 390 390 missense 0.073 benign 0.41 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1341398693 10q23.2 10 87364863G> A null C Y 393 393 missense 0.627 possibly damaging 0.26 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1428874591 10q23.2 10 87364868C> A null P T 395 395 missense 0.961 probably damaging 0.3 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1297233163 10q23.2 10 87364875C> A null P H 397 397 missense 0.003 benign 0.12 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,gnomAD rs532241065 10q23.2 10 87364879G> T null R S 398 398 2.0E-4 missense 0.022 benign 0.15 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1371740351 10q23.2 10 87364878G> C null R T 398 398 missense 0.007 benign 0.13 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1345679280 10q23.2 10 87364881C> A null P H 399 399 missense 0.863 possibly damaging 0.2 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1345679280 10q23.2 10 87364881C> T null P L 399 399 missense 0.44 benign 0.15 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1305476214 10q23.2 10 87364880C> T null P S 399 399 missense 0.254 benign 0.44 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1199838173 10q23.2 10 87364883C> T null Q * 400 400 stop gained 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1448577646 10q23.2 10 87364904C> T null R C 407 407 missense 0.453 possibly damaging 0.15 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1213203797 10q23.2 10 87364905G> A null R H 407 407 missense 0.0 benign 0.34 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1394621887 10q23.2 10 87364908G> T null R L 408 408 missense 0.0 benign 0.46 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1394621887 10q23.2 10 87364908G> A null R Q 408 408 missense 0.001 benign 0.62 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1247036614 10q23.2 10 87364907C> T null R W 408 408 missense 0.007 benign 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1392768913 10q23.2 10 87364911C> T null P L 409 409 missense 0.121 benign 0.14 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1194990929 10q23.2 10 87364910C> T null P S 409 409 missense 0.005 benign 0.25 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1248546227 10q23.2 10 87364917C> T null P L 411 411 missense 0.752 possibly damaging 0.18 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1477976237 10q23.2 10 87364916C> T null P S 411 411 missense 0.685 possibly damaging 0.33 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1477976237 10q23.2 10 87364916C> A null P T 411 411 missense 0.818 possibly damaging 0.42 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1159712584 10q23.2 10 87364920G> A null R Q 412 412 missense 0.007 benign 0.26 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D Ensembl rs1564646891 10q23.2 10 87364919C> T null R W 412 412 missense 0.738 possibly damaging 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1410620101 10q23.2 10 87364925C> T null H Y 414 414 missense 0.069 benign 0.07 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1320075787 10q23.2 10 87364929G> A null R Q 415 415 missense 0.106 benign 0.21 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1399330165 10q23.2 10 87364928C> T null R W 415 415 missense 0.968 probably damaging 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1443138568 10q23.2 10 87364931C> T null R * 416 416 stop gained 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1355172809 10q23.2 10 87364932G> A null R Q 416 416 missense 0.073 benign 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1394328206 10q23.2 10 87364937G> A null E K 418 418 missense 0.991 probably damaging 0.5 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1244221224 10q23.2 10 87364947C> A null A D 421 421 missense 0.998 probably damaging 0.09 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1323933885 10q23.2 10 87364949C> T null R C 422 422 missense 0.736 possibly damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1330642721 10q23.2 10 87364950G> A null R H 422 422 missense 0.001 benign 0.48 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1232421088 10q23.2 10 87364958C> G null P A 425 425 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1352491273 10q23.2 10 87364974G> A null R K 430 430 missense 0.031 benign 0.29 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1226357971 10q23.2 10 87364977C> A null P Q 431 431 missense 0.98 probably damaging 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1267043004 10q23.2 10 87364990G> C null K N 435 435 missense 0.455 possibly damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1250583018 10q23.2 10 87365003A> G null I V 440 440 missense 0.881 possibly damaging 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1468185954 10q23.2 10 87365007C> A null P H 441 441 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1235120485 10q23.2 10 87365006C> A null P T 441 441 missense 0.968 probably damaging 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1468881747 cosmic curated [Cosmic]: urinary_tract cosmic_study:581 10q23.2 10 87365010C> G null P R 442 442 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1158936672 10q23.2 10 87365012G> A null E K 443 443 missense 0.314 benign 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1390101453 10q23.2 10 87365033G> A null D N 450 450 missense 0.55 possibly damaging 0.14 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1329389194 10q23.2 10 87365039A> G null M V 452 452 missense 0.64 possibly damaging 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1337486673 10q23.2 10 87365042G> A null E K 453 453 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1408809229 10q23.2 10 87365045G> A null E K 454 454 missense 0.839 possibly damaging 0.46 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1263322970 10q23.2 10 87365061C> G null S C 459 459 missense 0.632 possibly damaging 0.24 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs777491732 10q23.2 10 87365066G> A null G R 461 461 missense 0.007 benign 0.4 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1370890237 10q23.2 10 87365070C> A null A D 462 462 missense 0.044 benign 0.09 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs746150171 10q23.2 10 87365073C> T null T M 463 463 missense 0.961 probably damaging 0.08 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1476427527 10q23.2 10 87365075G> C null G R 464 464 missense 0.729 possibly damaging 0.1 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1185992339 10q23.2 10 87365076G> T null G V 464 464 missense 0.395 benign 0.14 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1476427527 10q23.2 10 87365075G> T null G W 464 464 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1368128977 10q23.2 10 87365078G> A null E K 465 465 missense 0.984 probably damaging 0.15 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1169753481 10q23.2 10 87365082C> T null P L 466 466 missense 0.036 benign 0.25 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1462515988 10q23.2 10 87365081C> A null P T 466 466 missense 0.64 possibly damaging 0.07 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1348998348 10q23.2 10 87365085A> C null E A 467 467 missense 0.281 benign 0.18 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs775775328 10q23.2 10 87365086G> C null E D 467 467 missense 0.013 benign 0.88 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1427730264 10q23.2 10 87365084G> A null E K 467 467 missense 0.018 benign 0.17 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1158067027 10q23.2 10 87365087A> C null K Q 468 468 missense 0.306 benign 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1355781417 10q23.2 10 87365090C> T null Q * 469 469 stop gained 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs776814915 10q23.2 10 87365094G> C null R P 470 470 missense 0.333 benign 0.23 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs776814915 10q23.2 10 87365094G> A null R Q 470 470 missense 0.001 benign 0.38 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs769328273 10q23.2 10 87365093C> T null R W 470 470 missense 0.003 benign 0.27 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs750664394 10q23.2 10 87365096G> A null E K 471 471 missense 0.348 benign 0.07 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC rs763155217 10q23.2 10 87365097A> T null E V 471 471 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs766187228 10q23.2 10 87365099G> A null E K 472 472 missense 0.019 benign 0.12 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1205066260 10q23.2 10 87365103G> A null G D 473 473 missense 0.018 benign 0.55 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs201741914 10q23.2 10 87365102G> C null G R 473 473 0.3984 missense 0.733 possibly damaging 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs201741914 10q23.2 10 87365102G> A null G S 473 473 0.3984 missense 0.381 benign 0.14 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs200907148 10q23.2 10 87365105G> A null E K 474 474 0.1184 missense 0.031 benign 0.14 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs200907148 10q23.2 10 87365105G> C null E Q 474 474 0.1184 missense 0.315 benign 0.09 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1199114378 10q23.2 10 87365108G> T null V L 475 475 missense 0.333 benign 0.44 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs538239900 10q23.2 10 87365114C> G null Q E 477 477 5.99E-4 missense 0.122 benign 0.34 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs755624022 10q23.2 10 87365117C> T null P S 478 478 missense 0.434 benign 0.64 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1195676985 10q23.2 10 87365120C> T null Q * 479 479 stop gained 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1448943810 10q23.2 10 87365130A> C null D A 482 482 missense 0.281 benign 0.24 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC rs777213575 10q23.2 10 87365134G> T null W C 483 483 missense 0.694 possibly damaging 0.12 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1322856859 10q23.2 10 87365135A> G null T A 484 484 missense 0.007 benign 0.25 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs748956850 10q23.2 10 87365136C> T null T M 484 484 missense 0.003 benign 0.98 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs748956850 10q23.2 10 87365136C> G null T R 484 484 missense 0.265 benign 0.05 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed rs780435661 10q23.2 10 87365139C> A null P H 485 485 missense 0.503 possibly damaging 0.11 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1436314092 10q23.2 10 87365138C> T null P S 485 485 missense 0.098 benign 0.11 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1300836882 10q23.2 10 87365142C> T null P L 486 486 missense 0.073 benign 0.09 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC rs747409128 10q23.2 10 87365141C> A null P T 486 486 missense 0.598 possibly damaging 0.04 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs28605659 10q23.2 10 87365148C> T null P L 488 488 0.1727 missense 0.66 possibly damaging 0.08 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D Ensembl rs68075618 10q23.2 10 87365148_87365157delinsTGGGCCTCC A null P LGLQ 488 491 missense 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs28398769 10q23.2 10 87365157T> A null L Q 491 491 0.2254 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs28398769 10q23.2 10 87365157T> G null L R 491 491 0.2254 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1462110971 10q23.2 10 87365163A> G null Y C 493 493 missense 0.816 possibly damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1172161148 10q23.2 10 87365165A> G null T A 494 494 missense 0.007 benign 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs202099769 10q23.2 10 87365166C> T null T I 494 494 missense 0.0 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs773226559 10q23.2 10 87365169A> G null D G 495 495 missense 0.557 possibly damaging 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1394445829 10q23.2 10 87365168G> A null D N 495 495 missense 0.036 benign 0.09 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs763219266 10q23.2 10 87365181C> T null S F 499 499 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1486437486 10q23.2 10 87365184A> G null Q R 500 500 missense 0.548 possibly damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs554505918 10q23.2 10 87365191C> G null D E 502 502 2.0E-4 missense 0.108 benign 0.77 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,ExAC,TOPMed,gnomAD rs572720303 10q23.2 10 87365194C> G null F L 503 503 3.99E-4 missense 0.283 benign 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs767373669 10q23.2 10 87365195G> A null V I 504 504 missense 0.341 benign 0.35 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs752625412 10q23.2 10 87365199C> A null T N 505 505 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1461240794 10q23.2 10 87365201A> G null K E 506 506 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1434817953 10q23.2 10 87365202A> G null K R 506 506 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1456358163 10q23.2 10 87365698G> A null V I 510 510 missense 0.079 benign 0.16 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1165281806 10q23.2 10 87365708C> T null P L 513 513 missense 0.856 possibly damaging 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1360556992 10q23.2 10 87365707C> T null P S 513 513 missense 0.249 benign 0.02 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1012334154 10q23.2 10 87365711A> C null Q P 514 514 missense 0.007 benign 0.03 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1441481472 10q23.2 10 87365727G> T null L F 519 519 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes rs532543936 10q23.2 10 87365732C> T null S F 521 521 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1433693881 10q23.2 10 87365734C> A null P T 522 522 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1305130494 10q23.2 10 87365747T> C null M T 526 526 missense 0.07 benign 0.32 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D 1000Genomes,TOPMed,gnomAD rs548121222 10q23.2 10 87365754C> A null F L 528 528 3.99E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1393689747 10q23.2 10 87365758G> A null A T 530 530 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1286830702 10q23.2 10 87365772G> C null E D 534 534 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1234122129 10q23.2 10 87365781G> C null Q H 537 537 missense 0.789 possibly damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs1319939931 10q23.2 10 87365791C> T null L F 541 541 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs200278695 10q23.2 10 87365792T> A null L H 541 541 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs200278695 10q23.2 10 87365792T> C null L P 541 541 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1292854418 10q23.2 10 87365797C> T null L F 543 543 missense 0.046 benign 0.14 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed,gnomAD rs201063529 10q23.2 10 87365800G> A null A T 544 544 missense 0.227 benign 0.41 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1268687939 10q23.2 10 87365801C> T null A V 544 544 missense 0.815 possibly damaging 0.06 tolerated 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1220711765 10q23.2 10 87365803C> A null Q K 545 545 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs760409851 10q23.2 10 87367335G> A null G E 546 546 missense 0.146 benign 0.89 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1451869494 10q23.2 10 87367338C> A null A D 547 547 missense 0.96 probably damaging 0.01 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs768581374 10q23.2 10 87367337G> A null A T 547 547 missense 0.827 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D Ensembl rs1564647460 10q23.2 10 87367340C> G null P A 548 548 missense 0.293 benign 0.25 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ESP,ExAC,TOPMed,gnomAD rs376125273 10q23.2 10 87367341C> A null P H 548 548 missense 0.905 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1187930846 10q23.2 10 87367344C> A null S * 549 549 stop gained 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1419176447 10q23.2 10 87367346G> A null D N 550 550 missense 0.35 benign 0.48 tolerated - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs761880369 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 10q23.2 10 87367352C> G null P A 552 552 missense 0.024 benign 0.1 tolerated - low confidence 1 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs761880369 10q23.2 10 87367352C> T null P S 552 552 missense 0.09 benign 0.05 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs761880369 10q23.2 10 87367352C> A null P T 552 552 missense 0.048 benign 0.04 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D TOPMed rs1210596315 10q23.2 10 87367355G> A null G R 553 553 missense 0.781 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,gnomAD rs750006862 10q23.2 10 87367356G> T null G V 553 553 missense 0.778 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1452243648 10q23.2 10 87367358A> G null T A 554 554 missense 0.127 benign 0.0 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D gnomAD rs1321275540 10q23.2 10 87367359C> T null T I 554 554 missense 0.632 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6P9 NUTM2D NUT family member 2D ExAC,TOPMed,gnomAD rs762668052 10q23.2 10 87367363C> A null D E 555 555 missense 0.38 benign 0.0 deleterious - low confidence 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) Ensembl rs867550709 1p13.2 1 111691364C> T null R C 2 2 missense 0.772 possibly damaging 0.02 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375728545 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p13.2 1 111691365G> A null R H 2 2 missense 0.01 benign 0.11 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs375728545 1p13.2 1 111691365G> T null R L 2 2 missense 0.319 benign 0.05 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) Ensembl rs867923936 1p13.2 1 111691382G> A null V I 8 8 missense 0.158 benign 0.08 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) TOPMed rs1237025893 1p13.2 1 111691413C> T null A V 18 18 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs1318617056 1p13.2 1 111691416T> A null L Q 19 19 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs1432770864 1p13.2 1 111695348A> T null Q L 22 22 missense 0.242 benign 0.0 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) Ensembl rs750351024 1p13.2 1 111695354T> C null V A 24 24 missense 0.285 benign 0.05 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs1356285210 1p13.2 1 111695357A> G null Q R 25 25 missense 0.172 benign 0.04 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) 1000Genomes,ExAC,gnomAD rs183128692 1p13.2 1 111695384C> T null P L 34 34 2.0E-4 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) Ensembl rs867538057 1p13.2 1 111695403C> A null Y * 40 40 stop gained 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs1366688275 1p13.2 1 111695402A> G null Y C 40 40 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,gnomAD rs759282251 1p13.2 1 111697455T> G null D E 47 47 missense 0.007 benign 0.02 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs1451606264 1p13.2 1 111697453G> A null D N 47 47 missense 0.034 benign 0.03 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,TOPMed,gnomAD rs765162038 1p13.2 1 111697458C> G null C W 48 48 missense 0.659 possibly damaging 0.0 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs925184298 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 1p13.2 1 111697474G> A null E K 54 54 missense 0.28 benign 0.06 tolerated 1 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs1258238698 1p13.2 1 111697487C> T null T I 58 58 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,gnomAD rs762510293 1p13.2 1 111697489G> T null A S 59 59 missense 0.686 possibly damaging 0.01 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,TOPMed rs775475643 1p13.2 1 111703366A> G null M V 72 72 missense 0.035 benign 0.04 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) TOPMed rs1388629662 1p13.2 1 111703379A> G null Q R 76 76 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) TOPMed rs1188340202 1p13.2 1 111703388C> G null A G 79 79 missense 0.318 benign 0.0 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,gnomAD rs773760306 1p13.2 1 111703402A> G null I V 84 84 missense 0.037 benign 0.2 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,gnomAD rs201032712 1p13.2 1 111703406C> T null T I 85 85 missense 0.158 benign 0.16 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,gnomAD rs767081191 1p13.2 1 111703409C> T null A V 86 86 missense 0.747 possibly damaging 0.04 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,NCI-TCGA,gnomAD rs750039775 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p13.2 1 111703418C> T null T M 89 89 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) 1000Genomes rs201159888 1p13.2 1 111703427A> G null D G 92 92 missense 0.977 probably damaging 0.02 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) TOPMed,gnomAD rs962231693 1p13.2 1 111703444G> A null E K 98 98 missense 0.078 benign 0.04 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs1396685436 1p13.2 1 111703454T> C null L S 101 101 missense 0.435 benign 0.06 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,gnomAD rs758850574 1p13.2 1 111703457G> A null R Q 102 102 missense 0.012 benign 0.06 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs1411145108 1p13.2 1 111703463A> G null K R 104 104 missense 0.714 possibly damaging 0.06 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,TOPMed,gnomAD rs747060981 1p13.2 1 111703469C> T null T M 106 106 missense 0.098 benign 0.1 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs1446754282 1p13.2 1 111703474G> T null D Y 108 108 missense 0.949 probably damaging 0.05 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs1270324060 1p13.2 1 111704343G> T null V F 109 109 missense 0.818 possibly damaging 0.07 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374282055 1p13.2 1 111704349A> T null M L 111 111 2.0E-4 missense 0.014 benign 0.23 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,gnomAD rs746140793 1p13.2 1 111704350T> C null M T 111 111 missense 0.951 probably damaging 0.02 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374282055 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p13.2 1 111704349A> G null M V 111 111 2.0E-4 missense 0.297 benign 0.16 tolerated 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) ExAC,NCI-TCGA,gnomAD rs749041743 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p13.2 1 111704385G> A null E K 123 123 missense 0.072 benign 0.03 deleterious 0 A0A075B6Q0 RAP1A Ras-related protein Rap-1A (Fragment) gnomAD rs1163017012 1p13.2 1 111704388C> T null R * 124 124 stop gained 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1227672961 1p22.1 1 93529719A> G null D G 4 4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs763501140 1p22.1 1 93529718G> A null D N 4 4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs977875228 1p22.1 1 93529728C> T null T I 7 7 missense 0.425 benign 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs977875228 1p22.1 1 93529728C> G null T S 7 7 missense 0.019 benign 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1001627887 1p22.1 1 93529742G> A null A T 12 12 missense 0.24 benign 0.07 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1348783756 1p22.1 1 93529749T> C null V A 14 14 missense 0.526 possibly damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1236535821 1p22.1 1 93529748G> A null V I 14 14 missense 0.007 benign 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1480720351 1p22.1 1 93529751G> C null E Q 15 15 missense 0.481 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1482433450 1p22.1 1 93530756C> T null A V 17 17 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1200860934 1p22.1 1 93530771A> G null N S 22 22 missense 0.597 possibly damaging 0.09 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs771032500 1p22.1 1 93530776C> T null R C 24 24 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1420620030 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p22.1 1 93530777G> A null R H 24 24 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs369400637 1p22.1 1 93530780C> T null T M 25 25 missense 0.999 probably damaging 0.14 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1405628703 1p22.1 1 93530786T> C null M T 27 27 missense 0.006 benign 0.09 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1370095572 1p22.1 1 93530785A> G null M V 27 27 missense 0.038 benign 0.12 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs763551179 1p22.1 1 93530791G> A null D N 29 29 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1230234551 1p22.1 1 93530819A> G null Q R 38 38 missense 0.988 probably damaging 0.29 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1268346283 1p22.1 1 93530827A> C null N H 41 41 missense 0.891 possibly damaging 0.06 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1481842629 1p22.1 1 93530836G> A null G R 44 44 missense 0.945 probably damaging 0.82 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1224226522 1p22.1 1 93530839G> A null E K 45 45 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs546429949 1p22.1 1 93530860G> A null V I 52 52 missense 0.007 benign 0.1 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1243107659 1p22.1 1 93530866A> G null I V 54 54 missense 0.968 probably damaging 0.15 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1228413588 1p22.1 1 93530869C> G null P A 55 55 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1283015959 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p22.1 1 93530874G> T null Q H 56 56 missense 0.995 probably damaging 0.2 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1186986790 1p22.1 1 93530872C> A null Q K 56 56 missense 0.972 probably damaging 0.31 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs750010250 1p22.1 1 93530875A> C null I L 57 57 missense 0.056 benign 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs935093765 1p22.1 1 93530879A> G null Y C 58 58 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs938038511 1p22.1 1 93532933A> T null E D 63 63 missense 0.765 possibly damaging 0.87 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs756193665 1p22.1 1 93532940G> A null E K 66 66 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs756193665 1p22.1 1 93532940G> C null E Q 66 66 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,NCI-TCGA,gnomAD rs185227108 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1p22.1 1 93532943C> T null R * 67 67 2.0E-4 stop gained 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs760314460 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p22.1 1 93532944G> A null R Q 67 67 missense 0.608 possibly damaging 0.05 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes rs143226457 1p22.1 1 93532949A> G null T A 69 69 2.0E-4 missense 0.995 probably damaging 0.18 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs766200009 1p22.1 1 93532950C> G null T S 69 69 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs374671121 1p22.1 1 93532952A> T null I F 70 70 missense 0.421 benign 0.04 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1327492218 1p22.1 1 93532953T> A null I N 70 70 missense 0.753 possibly damaging 0.41 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs374671121 1p22.1 1 93532952A> G null I V 70 70 missense 0.003 benign 0.52 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ExAC,gnomAD rs531482489 1p22.1 1 93532963T> G null S R 73 73 2.0E-4 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs777591453 1p22.1 1 93532968G> A null C Y 75 75 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs550084998 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p22.1 1 93532977G> A null G E 78 78 2.0E-4 missense 1.0 probably damaging 0.41 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs550084998 1p22.1 1 93532977G> T null G V 78 78 2.0E-4 missense 1.0 probably damaging 0.49 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1202466074 1p22.1 1 93532980T> C null F S 79 79 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs370837605 1p22.1 1 93532994C> T null R C 84 84 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs756385190 cosmic curated [Cosmic]: lung cosmic_study:417 1p22.1 1 93532995G> A null R H 84 84 missense 0.028 benign 0.03 deleterious 1 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs780375202 1p22.1 1 93532998A> G null K R 85 85 missense 0.036 benign 0.28 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs768998180 1p22.1 1 93533006C> G null P A 88 88 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1199521972 1p22.1 1 93533024T> G null L V 94 94 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,NCI-TCGA,gnomAD rs771547672 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p22.1 1 93533039C> A null L I 99 99 missense 0.06 benign 0.08 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs772674673 1p22.1 1 93533048A> G null K E 102 102 missense 0.997 probably damaging 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs760367327 1p22.1 1 93533058A> C null D A 105 105 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1288262639 1p22.1 1 93533061A> G null E G 106 106 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs200518030 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 1p22.1 1 93533060G> A null E K 106 106 missense 0.997 probably damaging 0.11 tolerated 1 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1265073214 1p22.1 1 93534709C> G null S C 110 110 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs866960496 1p22.1 1 93534716G> T null M I 112 112 missense 0.0 benign 0.54 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1453567796 1p22.1 1 93534720G> A null V I 114 114 missense 0.003 benign 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs929148913 1p22.1 1 93534727C> T null S F 116 116 missense 0.474 possibly damaging 0.06 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs748641273 1p22.1 1 93534748C> G null P R 123 123 missense 1.0 probably damaging 0.54 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1188890368 1p22.1 1 93534747C> A null P T 123 123 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs867504673 1p22.1 1 93534750C> A null P T 124 124 missense 0.473 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1199269929 1p22.1 1 93534753G> A null G R 125 125 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs576466272 1p22.1 1 93534761T> G null F L 127 127 2.0E-4 missense 0.005 benign 0.34 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,gnomAD rs373661130 1p22.1 1 93534784A> T null H L 135 135 missense 0.455 possibly damaging 0.1 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs770373855 1p22.1 1 93534783C> A null H N 135 135 missense 0.009 benign 0.43 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,gnomAD rs373661130 1p22.1 1 93534784A> G null H R 135 135 missense 0.301 benign 0.17 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs770373855 1p22.1 1 93534783C> T null H Y 135 135 missense 0.63 possibly damaging 0.05 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs769520098 1p22.1 1 93534786A> G null I V 136 136 missense 0.253 benign 0.15 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1242512195 1p22.1 1 93534790A> G null Y C 137 137 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1300204698 1p22.1 1 93534799T> C null I T 140 140 missense 0.127 benign 0.39 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1363319897 1p22.1 1 93534802C> G null S C 141 141 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1363319897 1p22.1 1 93534802C> A null S Y 141 141 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs367764338 1p22.1 1 93534804G> A null D N 142 142 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1313587926 1p22.1 1 93534805A> T null D V 142 142 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1263611996 1p22.1 1 93534813A> T null I F 145 145 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1263611996 1p22.1 1 93534813A> G null I V 145 145 missense 0.982 probably damaging 0.06 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1342365322 1p22.1 1 93534819G> A null A T 147 147 missense 0.003 benign 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs372656799 1p22.1 1 93534826A> T null K I 149 149 missense 0.9 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs372656799 1p22.1 1 93534826A> G null K R 149 149 missense 0.028 benign 0.98 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs201882774 1p22.1 1 93534829A> G null Q R 150 150 missense 0.513 possibly damaging 0.2 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1249621050 1p22.1 1 93534831G> A null E K 151 151 missense 0.253 benign 0.31 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1249621050 1p22.1 1 93534831G> C null E Q 151 151 missense 0.5 possibly damaging 0.21 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs766553618 1p22.1 1 93534834A> T null S C 152 152 missense 0.641 possibly damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs754072630 1p22.1 1 93534835G> C null S T 152 152 missense 0.082 benign 0.1 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1162014137 1p22.1 1 93534847A> G null D G 156 156 missense 0.998 probably damaging 0.05 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1162014137 1p22.1 1 93534847A> T null D V 156 156 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1417796229 1p22.1 1 93534849G> A null A T 157 157 missense 0.003 benign 0.57 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1458186983 1p22.1 1 93534853A> G null K R 158 158 missense 0.045 benign 0.67 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1021219358 1p22.1 1 93534858A> G null T A 160 160 missense 0.995 probably damaging 0.75 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1386877812 1p22.1 1 93534861G> A null V I 161 161 missense 0.024 benign 0.4 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1434713951 1p22.1 1 93534867A> G null K E 163 163 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs779191301 1p22.1 1 93534871C> T null A V 164 164 missense 0.182 benign 0.33 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,TOPMed,gnomAD rs371983971 1p22.1 1 93534873A> G null K E 165 165 missense 0.997 probably damaging 0.06 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs753125613 1p22.1 1 93534875G> T null K N 165 165 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs1557815493 1p22.1 1 93534880A> C null K T 167 167 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs968174504 1p22.1 1 93534907A> G null K R 176 176 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs878946626 1p22.1 1 93536339C> G null S C 179 179 missense 0.855 possibly damaging 0.04 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs866258180 1p22.1 1 93536342C> T null P L 180 180 missense 0.006 benign 0.83 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs766604803 1p22.1 1 93536344C> T null P S 181 181 missense 0.706 possibly damaging 0.2 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,TOPMed,gnomAD rs534976924 1p22.1 1 93536351C> T null T I 183 183 3.99E-4 missense 0.568 possibly damaging 0.15 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,TOPMed,gnomAD rs534976924 1p22.1 1 93536351C> A null T N 183 183 3.99E-4 missense 0.228 benign 0.22 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1305487709 1p22.1 1 93536353C> T null P S 184 184 missense 0.715 possibly damaging 0.2 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs992790743 1p22.1 1 93536356A> G null T A 185 185 missense 0.066 benign 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs776748363 1p22.1 1 93536368A> C null T P 189 189 missense 0.003 benign 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1207553123 1p22.1 1 93536369C> G null T R 189 189 missense 0.063 benign 0.13 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs868048774 1p22.1 1 93536372C> T null S F 190 190 missense 0.693 possibly damaging 0.23 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1483092817 1p22.1 1 93536374A> G null S G 191 191 missense 0.07 benign 0.23 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1183625571 1p22.1 1 93536387G> T null G V 195 195 missense 1.0 probably damaging 0.1 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs759482116 1p22.1 1 93536390C> T null S F 196 196 missense 0.308 benign 0.03 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1349689788 1p22.1 1 93536397T> G null F L 198 198 missense 0.044 benign 0.49 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1192168194 1p22.1 1 93536411T> C null I T 203 203 missense 0.003 benign 0.23 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1470028227 1p22.1 1 93536410A> G null I V 203 203 missense 0.049 benign 0.11 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs948721458 1p22.1 1 93536419G> C null V L 206 206 missense 0.003 benign 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs948721458 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1p22.1 1 93536419G> A null V M 206 206 missense 0.045 benign 0.05 deleterious 1 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1371318425 1p22.1 1 93536423A> T null H L 207 207 missense 0.236 benign 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs752791887 1p22.1 1 93536429G> A null C Y 209 209 missense 0.997 probably damaging 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs1557816382 1p22.1 1 93536432T> C null M T 210 210 missense 0.122 benign 0.15 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1306199913 1p22.1 1 93536431A> G null M V 210 210 missense 0.003 benign 0.21 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs926540461 1p22.1 1 93536454G> T null K N 217 217 missense 0.447 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs980239867 1p22.1 1 93536477G> A null S N 225 225 missense 0.382 benign 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1275268768 1p22.1 1 93536483A> G null K R 227 227 missense 0.012 benign 0.55 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs764441805 1p22.1 1 93541046C> T null S L 231 231 missense 0.103 benign 0.34 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1391034005 1p22.1 1 93541055T> C null M T 234 234 missense 0.0 benign 0.33 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1372369611 1p22.1 1 93544108G> T null G V 235 235 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1473085468 1p22.1 1 93544110C> T null P S 236 236 missense 0.366 benign 0.58 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1459981546 1p22.1 1 93544133T> G null H Q 243 243 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs759663414 1p22.1 1 93544137C> T null P S 245 245 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs765169085 1p22.1 1 93544147A> G null Q R 248 248 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs775850567 1p22.1 1 93544152C> T null R C 250 250 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs763133491 1p22.1 1 93544153G> A null R H 250 250 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1246147121 1p22.1 1 93544160A> T null K N 252 252 missense 0.877 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1331988056 1p22.1 1 93544170C> T null R C 256 256 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1331988056 1p22.1 1 93544170C> G null R G 256 256 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1232181306 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p22.1 1 93544171G> A null R H 256 256 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1232181306 1p22.1 1 93544171G> T null R L 256 256 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ExAC,gnomAD rs559479254 1p22.1 1 93544173A> G null I V 257 257 2.0E-4 missense 0.982 probably damaging 0.33 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1227493612 1p22.1 1 93544177A> C null D A 258 258 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1330782939 1p22.1 1 93544178T> A null D E 258 258 missense 0.997 probably damaging 0.34 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs751946475 1p22.1 1 93544179G> T null E * 259 259 stop gained 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1260764231 1p22.1 1 93544182C> T null L F 260 260 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1442841721 1p22.1 1 93544203G> A null E K 267 267 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC rs751004927 1p22.1 1 93546843G> C null D H 272 272 missense 0.336 benign 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs967283504 1p22.1 1 93546849C> G null L V 274 274 missense 0.275 benign 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1174689432 1p22.1 1 93546860G> C null M I 277 277 missense 0.054 benign 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs376302703 1p22.1 1 93546862A> G null K R 278 278 missense 0.009 benign 0.09 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,gnomAD rs370356527 1p22.1 1 93546877A> G null K R 283 283 missense 0.45 possibly damaging 0.12 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1389212240 1p22.1 1 93546879A> C null N H 284 284 missense 0.003 benign 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1431927531 1p22.1 1 93546882C> T null P S 285 285 missense 0.015 benign 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1331342104 1p22.1 1 93546915A> G null K E 296 296 missense 0.275 benign 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs772153278 1p22.1 1 93546921G> T null A S 298 298 missense 0.007 benign 0.77 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs772153278 1p22.1 1 93546921G> A null A T 298 298 missense 0.003 benign 0.51 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ExAC,gnomAD rs559782162 1p22.1 1 93546928C> T null T I 300 300 2.0E-4 missense 0.999 probably damaging 0.33 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1184882628 1p22.1 1 93546932G> C null M I 301 301 missense 0.023 benign 0.2 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1175933987 1p22.1 1 93546930A> G null M V 301 301 missense 0.0 benign 0.29 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1300976000 1p22.1 1 93546943A> G null D G 305 305 missense 0.622 possibly damaging 0.07 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs200713243 1p22.1 1 93546946G> A null R H 306 306 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs777402212 [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1p22.1 1 93546951C> T null R * 308 308 stop gained 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs530453809 1p22.1 1 93546952G> T null R L 308 308 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs530453809 1p22.1 1 93546952G> A null R Q 308 308 2.0E-4 missense 0.997 probably damaging 0.17 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1309330256 1p22.1 1 93546954A> T null M L 309 309 missense 0.053 benign 0.91 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199677189 1p22.1 1 93546964A> T null H L 312 312 5.99E-4 missense 0.457 possibly damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199677189 1p22.1 1 93546964A> G null H R 312 312 5.99E-4 missense 0.281 benign 0.18 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs956356456 1p22.1 1 93546967A> G null K R 313 313 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1250009787 1p22.1 1 93546972G> A null E K 315 315 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs759126466 1p22.1 1 93547347G> A null A T 316 316 missense 0.753 possibly damaging 0.52 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1035656544 1p22.1 1 93547353C> T null L F 318 318 missense 0.783 possibly damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1368517675 1p22.1 1 93547356T> A null S T 319 319 missense 0.737 possibly damaging 0.11 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs868775105 1p22.1 1 93547359G> T null E * 320 320 stop gained 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs868775105 1p22.1 1 93547359G> C null E Q 320 320 missense 0.939 probably damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs752462169 1p22.1 1 93547365G> A null E K 322 322 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1435466393 1p22.1 1 93547369G> C null G A 323 323 missense 0.017 benign 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs374491712 1p22.1 1 93547378G> A null G D 326 326 missense 0.237 benign 0.08 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1254365630 1p22.1 1 93547377G> A null G S 326 326 missense 0.011 benign 0.81 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1359021223 1p22.1 1 93547380G> A null G R 327 327 missense 0.251 benign 0.37 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs368645937 1p22.1 1 93547385A> T null R S 328 328 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs866540530 1p22.1 1 93547396G> T null R I 332 332 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1381563858 1p22.1 1 93547399A> G null H R 333 333 missense 0.614 possibly damaging 0.21 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1310461699 1p22.1 1 93547408A> G null D G 336 336 missense 0.304 benign 0.45 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs968843815 1p22.1 1 93547410A> G null I V 337 337 missense 0.005 benign 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1191037183 1p22.1 1 93547413A> C null N H 338 338 missense 0.999 probably damaging 0.11 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs974915901 1p22.1 1 93547417A> C null H P 339 339 missense 0.999 probably damaging 0.17 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs974915901 1p22.1 1 93547417A> G null H R 339 339 missense 0.996 probably damaging 0.05 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1209672714 1p22.1 1 93547420T> C null L P 340 340 missense 1.0 probably damaging 0.32 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs757010427 1p22.1 1 93547419C> G null L V 340 340 missense 0.997 probably damaging 0.41 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,TOPMed,gnomAD rs372877567 1p22.1 1 93547425A> G null T A 342 342 missense 0.012 benign 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1186411280 1p22.1 1 93547432G> A null G E 344 344 missense 0.955 probably damaging 0.37 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1405376992 1p22.1 1 93549282G> T null E * 349 349 stop gained 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1399840821 1p22.1 1 93549283A> T null E V 349 349 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs747335196 1p22.1 1 93549298A> G null D G 354 354 missense 0.622 possibly damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,TOPMed,gnomAD rs369629520 1p22.1 1 93549303G> A null A T 356 356 missense 0.998 probably damaging 0.57 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,NCI-TCGA,gnomAD rs371958035 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p22.1 1 93549318C> T null R C 361 361 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs200753215 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 1p22.1 1 93549319G> A null R H 361 361 missense 0.999 probably damaging 0.48 tolerated 1 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1374895705 1p22.1 1 93549324C> T null P S 363 363 missense 0.381 benign 0.16 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1374895705 1p22.1 1 93549324C> A null P T 363 363 missense 0.543 possibly damaging 0.05 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1306366896 1p22.1 1 93549328C> A null P H 364 364 missense 0.569 possibly damaging 0.05 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1281440325 1p22.1 1 93549333C> T null Q * 366 366 stop gained 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs967564834 1p22.1 1 93549335G> T null Q H 366 366 missense 0.007 benign 0.12 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1371470267 1p22.1 1 93549334A> G null Q R 366 366 missense 0.199 benign 0.52 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1302403510 1p22.1 1 93549337A> G null H R 367 367 missense 0.06 benign 0.48 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1223508587 1p22.1 1 93549336C> T null H Y 367 367 missense 0.206 benign 0.04 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,gnomAD rs376844887 1p22.1 1 93549346A> G null H R 370 370 missense 0.171 benign 0.54 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201967018 1p22.1 1 93549349A> G null N S 371 371 0.001198 missense 0.0 benign 0.64 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1206026779 1p22.1 1 93549358A> G null D G 374 374 missense 0.809 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC rs751167351 1p22.1 1 93549365A> T null E D 376 376 missense 0.003 benign 0.35 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs757101872 1p22.1 1 93549369G> C null E Q 378 378 missense 0.622 possibly damaging 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs767298037 1p22.1 1 93549374T> G null D E 379 379 missense 0.997 probably damaging 0.34 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1405046565 1p22.1 1 93549377T> A null D E 380 380 missense 0.997 probably damaging 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1191471451 1p22.1 1 93549376A> G null D G 380 380 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,ExAC,gnomAD rs568792482 1p22.1 1 93549380T> A null D E 381 381 2.0E-4 missense 0.045 benign 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs1557823610 1p22.1 1 93549382C> T null P L 382 382 missense 1.0 probably damaging 0.12 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs905367493 1p22.1 1 93549388C> T null P L 384 384 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs770553723 1p22.1 1 93549391C> T null A V 385 385 missense 0.998 probably damaging 0.28 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1390734786 1p22.1 1 93549393A> C null I L 386 386 missense 0.982 probably damaging 0.06 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs779916304 1p22.1 1 93549394T> C null I T 386 386 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs748207824 1p22.1 1 93549399C> T null H Y 388 388 missense 0.995 probably damaging 0.14 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs878868572 1p22.1 1 93549406A> G null K R 390 390 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs758436443 1p22.1 1 93549411A> G null I V 392 392 missense 0.038 benign 0.06 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1361768052 1p22.1 1 93549415A> T null Y F 393 393 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs777867423 1p22.1 1 93549417C> A null P T 394 394 missense 0.81 possibly damaging 0.69 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1303246033 1p22.1 1 93549426G> A null G R 397 397 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs766231347 1p22.1 1 93550949C> A null H N 398 398 missense 0.005 benign 0.23 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1448565930 1p22.1 1 93550950A> G null H R 398 398 missense 0.209 benign 0.06 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs777901485 1p22.1 1 93550964C> G null L V 403 403 missense 0.997 probably damaging 0.12 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs369820145 1p22.1 1 93550972G> A null M I 405 405 missense 0.98 probably damaging 0.16 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs369820145 1p22.1 1 93550972G> C null M I 405 405 missense 0.98 probably damaging 0.16 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed,gnomAD rs1415430013 1p22.1 1 93550971T> C null M T 405 405 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes rs560964657 1p22.1 1 93550970A> G null M V 405 405 2.0E-4 missense 0.968 probably damaging 0.49 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1484087862 1p22.1 1 93550974A> C null K T 406 406 missense 0.812 possibly damaging 0.31 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs757578445 1p22.1 1 93550977A> G null E G 407 407 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs781527954 1p22.1 1 93550980G> C null G A 408 408 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs781527954 1p22.1 1 93550980G> A null G D 408 408 missense 1.0 probably damaging 0.1 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs770230227 1p22.1 1 93550992A> G null Y C 412 412 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs749797756 1p22.1 1 93550996T> G null I M 413 413 missense 0.599 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs766731574 1p22.1 1 93550994A> G null I V 413 413 missense 0.003 benign 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs768093193 1p22.1 1 93550998T> C null I T 414 414 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs773891724 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p22.1 1 93551005G> T null E D 416 416 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs867626416 1p22.1 1 93551006G> T null D Y 417 417 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1232274108 1p22.1 1 93551010A> G null K R 418 418 missense 0.045 benign 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1352357246 1p22.1 1 93551012G> A null G S 419 419 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,gnomAD rs373496701 1p22.1 1 93551013G> T null G V 419 419 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs772784653 1p22.1 1 93551017C> A null D E 420 420 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs771741434 1p22.1 1 93551015G> A null D N 420 420 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1283392989 1p22.1 1 93551018G> A null G R 421 421 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs760475987 1p22.1 1 93551030G> A null A T 425 425 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs753782332 1p22.1 1 93551034G> T null R L 426 426 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs753782332 1p22.1 1 93551034G> A null R Q 426 426 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs766179132 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p22.1 1 93551033C> T null R W 426 426 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,TOPMed,gnomAD rs376163977 1p22.1 1 93551037G> C null R T 427 427 missense 0.465 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs1362765070 1p22.1 1 93551041G> C null Q H 428 428 missense 0.007 benign 0.07 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs764126446 1p22.1 1 93551040A> T null Q L 428 428 missense 0.24 benign 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs764126446 1p22.1 1 93551040A> G null Q R 428 428 missense 0.182 benign 0.05 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ESP,ExAC,gnomAD rs370762697 1p22.1 1 93551043A> G null N S 429 429 missense 0.042 benign 0.39 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1384780548 1p22.1 1 93551045G> A null G S 430 430 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) TOPMed rs958217019 1p22.1 1 93551055G> C null G A 433 433 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs750661119 1p22.1 1 93551060G> A null V I 435 435 missense 0.996 probably damaging 0.19 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs750661119 1p22.1 1 93551060G> C null V L 435 435 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs756502988 1p22.1 1 93551067C> T null T M 437 437 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs749811116 1p22.1 1 93551069T> A null S T 438 438 missense 0.03 benign 0.02 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) Ensembl rs1280619556 1p22.1 1 93551075A> G null I V 440 440 missense 0.982 probably damaging 1.0 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs769227073 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 1p22.1 1 93551078G> A null D N 441 441 missense 0.911 probably damaging 0.03 deleterious 1 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs779246551 1p22.1 1 93551082T> C null V A 442 442 missense 0.442 benign 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,TOPMed,gnomAD rs747661424 1p22.1 1 93551085C> T null T I 443 443 missense 0.839 possibly damaging 0.37 tolerated 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes,TOPMed rs549853392 1p22.1 1 93551098C> G null N K 447 447 2.0E-4 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) 1000Genomes rs571383468 1p22.1 1 93551099A> T null S C 448 448 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs770668831 1p22.1 1 93551102A> G null K E 449 449 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) gnomAD rs1251430070 1p22.1 1 93551105G> A null G S 450 450 missense 0.492 possibly damaging 0.0 deleterious 0 A0A075B6Q2 FNBP1L Formin-binding protein 1-like (Fragment) ExAC,gnomAD rs745692547 1p22.1 1 93552411T> C null S P 451 451 missense 0.386 benign 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs867980318 Xq26.1 X 130013974C> T null T M 1 1 missense 0.881 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1329227749 Xq26.1 X 130013979G> C null A P 3 3 missense 0.225 benign 0.03 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369847268 Xq26.1 X 130013988C> T null P S 6 6 missense 0.23 benign 0.01 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1404995724 Xq26.1 X 130013997G> A null A T 9 9 missense 0.889 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs768365933 Xq26.1 X 130013998C> T null A V 9 9 missense 0.795 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs773841000 Xq26.1 X 130014000C> T null P S 10 10 missense 0.084 benign 0.99 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1367102259 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130014007C> T null P L 12 12 missense 0.083 benign 0.0 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1156441885 Xq26.1 X 130014009G> A null A T 13 13 missense 0.134 benign 0.12 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1475955238 Xq26.1 X 130014010C> T null A V 13 13 missense 0.135 benign 0.01 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1188607398 Xq26.1 X 130014018A> G null S G 16 16 missense 0.0 benign 0.09 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs886841953 Xq26.1 X 130014022T> G null L W 17 17 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs771484093 Xq26.1 X 130014024A> C null S R 18 18 missense 0.439 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs773725938 Xq26.1 X 130014028G> A null R K 19 19 missense 0.979 probably damaging 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1165081980 Xq26.1 X 130014030G> A null V M 20 20 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1389018771 Xq26.1 X 130014035C> G null C W 21 21 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed rs761108373 Xq26.1 X 130014039C> T null P S 23 23 missense 0.998 probably damaging 0.31 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs776898786 Xq26.1 X 130014052C> T null A V 27 27 missense 0.05 benign 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed rs149126684 Xq26.1 X 130014054C> G null P A 28 28 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1214719377 Xq26.1 X 130014062G> A null M I 30 30 missense 0.946 probably damaging 0.05 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1326601919 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130014072C> T null P S 34 34 missense 0.998 probably damaging 0.17 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1282182124 Xq26.1 X 130014090G> A null G R 40 40 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1354797211 Xq26.1 X 130014093A> T null T S 41 41 missense 0.64 possibly damaging 0.18 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs765499561 Xq26.1 X 130014102A> G null T A 44 44 missense 0.042 benign 0.62 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs752975166 Xq26.1 X 130014103C> A null T N 44 44 missense 0.669 possibly damaging 0.22 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs765499561 Xq26.1 X 130014102A> C null T P 44 44 missense 0.852 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs764103708 Xq26.1 X 130014106C> T null P L 45 45 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1218505420 [NCI-TCGA]: Variant assessed as Somatic; impact. Xq26.1 X 130014120G> A null V I 50 50 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1256043942 Xq26.1 X 130014124A> G null Y C 51 51 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1223654595 Xq26.1 X 130014141T> A null C S 57 57 missense 0.99 probably damaging 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1346841312 Xq26.1 X 130014142G> A null C Y 57 57 missense 0.996 probably damaging 0.29 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs756050613 Xq26.1 X 130014150C> A null P T 60 60 missense 0.998 probably damaging 0.18 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs779897008 Xq26.1 X 130014153C> G null L V 61 61 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs754779030 Xq26.1 X 130014165A> G null T A 65 65 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1294884267 Xq26.1 X 130014202C> T null T M 77 77 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1294884267 Xq26.1 X 130014202C> G null T R 77 77 missense 0.999 probably damaging 0.21 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1402775083 Xq26.1 X 130014204C> A null L I 78 78 missense 0.99 probably damaging 0.1 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs771406525 Xq26.1 X 130014207C> T null P S 79 79 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs777120351 Xq26.1 X 130014217C> T null P L 82 82 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1278374863 Xq26.1 X 130014226T> G null L R 85 85 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1485625067 Xq26.1 X 130014231G> A null D N 87 87 missense 0.794 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1229780287 Xq26.1 X 130014235G> A null R K 88 88 missense 0.979 probably damaging 0.2 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs765729620 Xq26.1 X 130014236G> T null R S 88 88 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1431547514 Xq26.1 X 130014240C> T null L F 90 90 missense 0.73 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1180587705 Xq26.1 X 130014250T> C null V A 93 93 missense 0.826 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs763317339 Xq26.1 X 130014249G> A null V M 93 93 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl,dbSNP rs1057521638 [ClinVar]: SHUKLA-VERNON SYNDROME, [UniProt]: unknown pathological significance pubmed:30941876 pubmed:30941876 Xq26.1 X 130014259C> T null S F 96 96 missense 0.996 probably damaging 0.0 deleterious 0 SHUKLA-VERNON SYNDROME (SHUVER) MIM:301029 ClinVar:RCV000790633 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl,dbSNP rs1057521638 [ClinVar]: SHUKLA-VERNON SYNDROME, [UniProt]: unknown pathological significance pubmed:30941876 pubmed:30941876 Xq26.1 X 130014259C> T null S F 96 96 missense 0.996 probably damaging 0.0 deleterious 0 Shukla-Vernon syndrome (SHUVER) An X-linked neurodevelopmental disorder manifesting in affected males with intellectual and learning disability, motor and language delay, autism spectrum disorder, attention deficit and hyperactivity disorder, and dysmorphic features. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier females may have mild disease manifestations. MIM:301029 pubmed:24123876,pubmed:30941876 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs764205905 Xq26.1 X 130014261C> T null P S 97 97 missense 0.998 probably damaging 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl,dbSNP rs1057523534 Xq26.1 X 130014267C> T null L F 99 99 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1242884415 Xq26.1 X 130014270C> T null R C 100 100 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs760650197 Xq26.1 X 130014276T> C null Y H 102 102 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes rs771396923 Xq26.1 X 130014283A> G null Y C 104 104 2.65E-4 missense 0.013 benign 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1390624514 Xq26.1 X 130014301G> A null R Q 110 110 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1224048848 Xq26.1 X 130014300C> T null R W 110 110 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs754724041 Xq26.1 X 130014313C> T null S L 114 114 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1235615740 Xq26.1 X 130014345A> G null R G 125 125 missense 0.001 benign 0.13 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1283114874 Xq26.1 X 130014347G> C null R S 125 125 missense 0.007 benign 0.36 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1337791359 Xq26.1 X 130014348C> T null L F 126 126 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs777331146 Xq26.1 X 130014354T> C null C R 128 128 missense 0.069 benign 0.05 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs746558043 Xq26.1 X 130014361C> A null S Y 130 130 missense 0.952 probably damaging 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1404361826 Xq26.1 X 130014363C> T null P S 131 131 missense 0.998 probably damaging 0.26 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs190993389 Xq26.1 X 130014369G> C null G R 133 133 missense 0.873 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs190993389 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 Xq26.1 X 130014369G> A null G S 133 133 missense 0.013 benign 0.78 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1454355605 Xq26.1 X 130014373G> C null S T 134 134 missense 0.73 possibly damaging 0.22 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs770261159 Xq26.1 X 130014376C> A null T N 135 135 missense 0.007 benign 0.36 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1371275213 Xq26.1 X 130014378A> G null T A 136 136 missense 0.0 benign 0.47 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs776041324 Xq26.1 X 130014379C> T null T I 136 136 missense 0.142 benign 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1168270781 Xq26.1 X 130014381A> C null T P 137 137 missense 0.439 benign 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1168672113 Xq26.1 X 130014386G> T null Q H 138 138 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs763235942 Xq26.1 X 130014391C> T null A V 140 140 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1420562958 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq26.1 X 130014396G> A null D N 142 142 missense 0.32 benign 0.03 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,gnomAD rs767375883 Xq26.1 X 130014405C> G null P A 145 145 2.65E-4 missense 0.225 benign 0.14 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1188498233 Xq26.1 X 130014420G> A null D N 150 150 missense 0.91 probably damaging 0.24 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1471893120 Xq26.1 X 130014423A> G null T A 151 151 missense 0.001 benign 0.77 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs954836348 Xq26.1 X 130014424C> G null T S 151 151 missense 0.083 benign 0.89 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1303966350 Xq26.1 X 130014426T> G null S A 152 152 missense 0.028 benign 0.09 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1462624802 Xq26.1 X 130014430T> G null L R 153 153 missense 0.931 probably damaging 0.2 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1203271617 Xq26.1 X 130014444G> A null A T 158 158 missense 0.995 probably damaging 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1307555930 Xq26.1 X 130014460C> A null T N 163 163 missense 0.439 benign 0.06 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs761729719 Xq26.1 X 130014462C> G null P A 164 164 missense 0.352 benign 0.89 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA rs767612921 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130014463C> T null P L 164 164 missense 0.787 possibly damaging 0.38 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35616836 Xq26.1 X 130014471C> G null L V 167 167 0.01166 missense 0.647 possibly damaging 0.28 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs764984626 Xq26.1 X 130014475T> C null L P 168 168 missense 0.074 benign 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs758053837 Xq26.1 X 130014481C> A null A D 170 170 missense 0.773 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1314821675 Xq26.1 X 130014480G> C null A P 170 170 missense 0.015 benign 0.23 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,gnomAD rs777232033 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130014490G> A null G E 173 173 missense 0.944 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs753403101 Xq26.1 X 130014505C> T null P L 178 178 2.65E-4 missense 0.007 benign 0.16 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1453795937 Xq26.1 X 130014504C> T null P S 178 178 missense 0.009 benign 0.28 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1193863656 Xq26.1 X 130014508A> C null H P 179 179 missense 0.563 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs973667109 Xq26.1 X 130014511C> G null P R 180 180 missense 0.898 possibly damaging 0.2 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs780898582 Xq26.1 X 130014510C> T null P S 180 180 missense 0.88 possibly damaging 0.37 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs188957722 Xq26.1 X 130014513G> T null A S 181 181 2.65E-4 missense 0.03 benign 0.92 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs188957722 Xq26.1 X 130014513G> A null A T 181 181 2.65E-4 missense 0.007 benign 0.99 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,gnomAD rs749559990 NCI-TCGA Cosmic [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:435 Xq26.1 X 130014534G> A null E K 188 188 missense 0.555 possibly damaging 0.01 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1384803724 Xq26.1 X 130014540C> A null Q K 190 190 missense 0.546 possibly damaging 0.22 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC rs778731813 Xq26.1 X 130014543A> C null T P 191 191 2.65E-4 missense 0.791 possibly damaging 0.14 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs774393845 Xq26.1 X 130014544C> G null T R 191 191 missense 0.862 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs747607489 Xq26.1 X 130014552A> G null T A 194 194 5.3E-4 missense 0.003 benign 0.71 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs747607489 Xq26.1 X 130014552A> T null T S 194 194 5.3E-4 missense 0.121 benign 0.33 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1296955562 Xq26.1 X 130014556C> G null S C 195 195 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1231856188 Xq26.1 X 130014558G> A null V I 196 196 missense 0.481 possibly damaging 0.38 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs775509050 Xq26.1 X 130014568C> T null S F 199 199 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs945977594 Xq26.1 X 130014570C> A null P T 200 200 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1485278536 Xq26.1 X 130014606G> A null A T 212 212 missense 0.229 benign 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,TOPMed rs373626782 Xq26.1 X 130014619A> G null E G 216 216 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1292022115 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130014625G> A null S N 218 218 missense 0.061 benign 0.16 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs963883199 Xq26.1 X 130014627G> A null E K 219 219 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1167221282 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary cosmic_study:331 Xq26.1 X 130014660C> T null R C 230 230 missense 0.997 probably damaging 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143864671 cosmic curated [Cosmic]: pancreas cosmic_study:328 Xq26.1 X 130014661G> A null R H 230 230 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143864671 Xq26.1 X 130014661G> T null R L 230 230 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs780644801 Xq26.1 X 130014664A> G null Q R 231 231 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs749830099 Xq26.1 X 130014679C> T null P L 236 236 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1569368992 Xq26.1 X 130014678C> T null P S 236 236 missense 0.998 probably damaging 0.2 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs779380175 cosmic curated [Cosmic]: pancreas cosmic_study:328 Xq26.1 X 130014687C> T null R C 239 239 missense 0.997 probably damaging 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs748283467 Xq26.1 X 130014688G> A null R H 239 239 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs747031484 Xq26.1 X 130014720G> A null V M 250 250 missense 0.998 probably damaging 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1210137406 Xq26.1 X 130014739C> T null A V 256 256 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs775243328 Xq26.1 X 130014741C> T null L F 257 257 missense 0.024 benign 0.08 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377206126 Xq26.1 X 130014772G> A null R H 267 267 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1418507497 Xq26.1 X 130014775C> T null T I 268 268 missense 0.796 possibly damaging 0.31 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1159913597 Xq26.1 X 130014783G> T null A S 271 271 missense 0.12 benign 0.43 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1433370540 Xq26.1 X 130014790G> A null G D 273 273 missense 0.73 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1158033315 Xq26.1 X 130014789G> A null G S 273 273 missense 0.071 benign 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1433370540 Xq26.1 X 130014790G> T null G V 273 273 missense 0.787 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1252530003 Xq26.1 X 130014793G> A null G D 274 274 missense 0.311 benign 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1376395740 Xq26.1 X 130014819A> G null T A 283 283 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs761546615 Xq26.1 X 130014823C> T null S F 284 284 missense 0.563 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375680936 Xq26.1 X 130014826C> T null S L 285 285 missense 0.481 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs765932763 Xq26.1 X 130014841T> C null F S 290 290 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1318095183 Xq26.1 X 130014847A> G null E G 292 292 missense 0.621 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1280980553 Xq26.1 X 130014846G> C null E Q 292 292 missense 0.852 possibly damaging 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs539822611 Xq26.1 X 130014852G> A null V M 294 294 missense 0.873 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs758775339 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130014868C> T null P L 299 299 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,dbSNP rs996029969 Xq26.1 X 130014867C> T null P S 299 299 missense 0.88 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs151023097 Xq26.1 X 130014871G> A null S N 300 300 missense 0.829 possibly damaging 0.06 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs747256100 Xq26.1 X 130014878G> C null W C 302 302 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) dbSNP,gnomAD rs1057523551 Xq26.1 X 130014884G> T null K N 304 304 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1416717037 Xq26.1 X 130014887C> G null N K 305 305 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1030324283 Xq26.1 X 130014897C> A null L M 309 309 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1354367572 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130014902C> G null I M 310 310 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs781375205 Xq26.1 X 130014916G> A null G D 315 315 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs954718543 Xq26.1 X 130014925T> C null V A 318 318 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs767112690 Xq26.1 X 130014924G> T null V L 318 318 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs767112690 cosmic curated [Cosmic]: large_intestine cosmic_study:376 Xq26.1 X 130014924G> A null V M 318 318 missense 0.998 probably damaging 0.04 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1303976877 Xq26.1 X 130014937A> G null N S 322 322 missense 0.987 probably damaging 0.17 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1429394573 Xq26.1 X 130014946C> G null P R 325 325 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs753285214 Xq26.1 X 130014952C> G null S C 327 327 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs753285214 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130014952C> A null S Y 327 327 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs772027182 Xq26.1 X 130014957C> A null L M 329 329 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1307893265 Xq26.1 X 130014964A> G null N S 331 331 missense 0.203 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1199456475 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 Xq26.1 X 130014969G> A null D N 333 333 missense 0.783 possibly damaging 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs772947689 Xq26.1 X 130014975A> G null N D 335 335 missense 0.546 possibly damaging 0.35 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs772947689 Xq26.1 X 130014975A> C null N H 335 335 missense 0.904 possibly damaging 0.08 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs756574378 Xq26.1 X 130014988A> G null N S 339 339 missense 0.006 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1260566415 Xq26.1 X 130014990C> T null R C 340 340 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1193082570 Xq26.1 X 130014991G> A null R H 340 340 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1193082570 Xq26.1 X 130014991G> T null R L 340 340 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1247425264 Xq26.1 X 130014997C> G null P R 342 342 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201691382 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130014999C> T null R C 343 343 2.65E-4 missense 0.967 probably damaging 0.06 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201232537 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq26.1 X 130015000G> A null R H 343 343 0.001325 missense 0.036 benign 0.11 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) dbSNP,gnomAD rs1057522573 Xq26.1 X 130015017G> A null E K 349 349 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) dbSNP,gnomAD rs1478365256 Xq26.1 X 130015020C> T null P S 350 350 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs753452516 cosmic curated [Cosmic]: salivary_gland pubmed:23685749,cosmic_study:489 Xq26.1 X 130015033T> C null I T 354 354 missense 0.778 possibly damaging 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1172297021 Xq26.1 X 130015032A> G null I V 354 354 missense 0.146 benign 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1323379956 Xq26.1 X 130015046G> C null E D 358 358 missense 0.051 benign 0.17 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs973521545 Xq26.1 X 130015048C> A null P H 359 359 missense 0.999 probably damaging 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1460653306 Xq26.1 X 130015057C> T null T I 362 362 missense 0.121 benign 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs759945893 Xq26.1 X 130015060G> T null G V 363 363 missense 0.787 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1324948015 Xq26.1 X 130015063C> A null A D 364 364 missense 0.439 benign 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1225386894 Xq26.1 X 130015062G> A null A T 364 364 missense 0.163 benign 0.13 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1351160789 Xq26.1 X 130015066C> T null T M 365 365 missense 0.556 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1269545455 Xq26.1 X 130015069G> A null C Y 366 366 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1362329561 Xq26.1 X 130015076A> T null K N 368 368 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1220242753 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:416 Xq26.1 X 130015078A> G null K R 369 369 missense 0.991 probably damaging 0.03 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1332942791 Xq26.1 X 130015093G> A null G D 374 374 missense 0.925 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs753206050 Xq26.1 X 130015105A> G null Q R 378 378 missense 0.359 benign 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,gnomAD rs368475246 Xq26.1 X 130015108C> T null P L 379 379 2.65E-4 missense 0.647 possibly damaging 0.1 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,gnomAD rs368475246 Xq26.1 X 130015108C> A null P Q 379 379 2.65E-4 missense 0.061 benign 0.65 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs751749965 Xq26.1 X 130015111G> A null S N 380 380 missense 0.034 benign 0.32 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) dbSNP,gnomAD rs1488781894 [ClinVar]: SHUKLA-VERNON SYNDROME, [UniProt]: unknown pathological significance pubmed:30941876 pubmed:30941876 Xq26.1 X 130015117T> A null V E 382 382 missense 0.796 possibly damaging 0.03 deleterious 0 SHUKLA-VERNON SYNDROME (SHUVER) MIM:301029 ClinVar:RCV000790632 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) dbSNP,gnomAD rs1488781894 [ClinVar]: SHUKLA-VERNON SYNDROME, [UniProt]: unknown pathological significance pubmed:30941876 pubmed:30941876 Xq26.1 X 130015117T> A null V E 382 382 missense 0.796 possibly damaging 0.03 deleterious 0 Shukla-Vernon syndrome (SHUVER) An X-linked neurodevelopmental disorder manifesting in affected males with intellectual and learning disability, motor and language delay, autism spectrum disorder, attention deficit and hyperactivity disorder, and dysmorphic features. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier females may have mild disease manifestations. MIM:301029 pubmed:24123876,pubmed:30941876 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1334382828 Xq26.1 X 130015123G> A null R Q 384 384 missense 0.99 probably damaging 0.05 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1196291403 Xq26.1 X 130015128A> G null T A 386 386 missense 0.647 possibly damaging 0.27 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs757567459 Xq26.1 X 130015129C> T null T I 386 386 missense 0.406 benign 0.36 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371862075 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: large_intestine cosmic_study:375 Xq26.1 X 130015137C> T null R C 389 389 missense 0.984 probably damaging 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs769770475 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq26.1 X 130015138G> A null R H 389 389 missense 0.966 probably damaging 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1417380134 Xq26.1 X 130015140A> T null I F 390 390 missense 0.918 probably damaging 0.23 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1317473632 Xq26.1 X 130015150G> T null G V 393 393 missense 1.0 probably damaging 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1259658038 Xq26.1 X 130015162G> A null C Y 397 397 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs778874318 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq26.1 X 130015168C> T null T I 399 399 missense 0.439 benign 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs974010419 Xq26.1 X 130015175A> T null E D 401 401 missense 0.122 benign 0.69 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs748122399 Xq26.1 X 130015180C> T null S F 403 403 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs866393815 Xq26.1 X 130015194A> G null T A 408 408 missense 0.028 benign 0.09 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374822433 Xq26.1 X 130015195C> T null T M 408 408 missense 0.909 probably damaging 0.01 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs770671475 Xq26.1 X 130015201C> T null P L 410 410 missense 0.003 benign 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs760397145 Xq26.1 X 130015200C> T null P S 410 410 missense 0.007 benign 0.54 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs776159524 Xq26.1 X 130015206A> G null N D 412 412 missense 0.57 possibly damaging 0.06 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1488894613 Xq26.1 X 130015212T> C null Y H 414 414 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs759019124 Xq26.1 X 130015215C> T null P S 415 415 missense 0.057 benign 0.23 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,dbSNP,gnomAD rs754162657 Xq26.1 X 130015219G> A null R Q 416 416 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,dbSNP,gnomAD rs398123004 [ClinVar]: SHUKLA-VERNON SYNDROME, [UniProt]: unknown pathological significance pubmed:24123876 Xq26.1 X 130015231A> G null N S 420 420 missense 0.987 probably damaging 0.09 tolerated 0 SHUKLA-VERNON SYNDROME (SHUVER) MIM:301029 ClinVar:RCV000077788 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,dbSNP,gnomAD rs398123004 [ClinVar]: SHUKLA-VERNON SYNDROME, [UniProt]: unknown pathological significance pubmed:24123876 Xq26.1 X 130015231A> G null N S 420 420 missense 0.987 probably damaging 0.09 tolerated 0 Shukla-Vernon syndrome (SHUVER) An X-linked neurodevelopmental disorder manifesting in affected males with intellectual and learning disability, motor and language delay, autism spectrum disorder, attention deficit and hyperactivity disorder, and dysmorphic features. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier females may have mild disease manifestations. MIM:301029 pubmed:24123876,pubmed:30941876 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs753181332 Xq26.1 X 130015233G> A null G R 421 421 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1238851479 Xq26.1 X 130015236A> C null K Q 422 422 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs868434655 Xq26.1 X 130015239C> T null P S 423 423 missense 0.453 possibly damaging 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1383499128 Xq26.1 X 130015251C> A null Q K 427 427 missense 0.968 probably damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,gnomAD rs141660711 Xq26.1 X 130015252A> G null Q R 427 427 missense 0.979 probably damaging 0.08 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1380433198 Xq26.1 X 130015276C> T null P L 435 435 missense 0.999 probably damaging 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs757578945 Xq26.1 X 130015285A> G null Q R 438 438 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,gnomAD rs781411863 [NCI-TCGA]: Variant assessed as Somatic; impact. Xq26.1 X 130015287G> A null A T 439 439 missense 0.005 benign 0.72 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs750646359 Xq26.1 X 130015291C> T null S F 440 440 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs756173285 Xq26.1 X 130015294T> A null L Q 441 441 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1042908337 Xq26.1 X 130015296C> T null L F 442 442 missense 0.069 benign 0.09 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1440361976 Xq26.1 X 130015302A> T null I F 444 444 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1354547127 Xq26.1 X 130015309T> A null I N 446 446 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1279008721 Xq26.1 X 130015308A> G null I V 446 446 missense 0.949 probably damaging 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs780326220 Xq26.1 X 130015317G> T null A S 449 449 missense 0.121 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1167935416 Xq26.1 X 130015318C> T null A V 449 449 missense 0.121 benign 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs199913486 Xq26.1 X 130015320G> A null G R 450 450 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs936420648 Xq26.1 X 130015323C> A null Q K 451 451 missense 0.968 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs758474236 Xq26.1 X 130015330C> A null T N 453 453 missense 0.439 benign 0.23 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1201386699 Xq26.1 X 130015336G> C null S T 455 455 missense 0.269 benign 0.43 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1444375984 Xq26.1 X 130015339A> G null Q R 456 456 missense 0.805 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,gnomAD rs772999532 Xq26.1 X 130015342G> A null G E 457 457 5.3E-4 missense 0.982 probably damaging 0.22 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs770634270 Xq26.1 X 130015344G> C null A P 458 458 missense 0.536 possibly damaging 0.24 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs770634270 Xq26.1 X 130015344G> A null A T 458 458 missense 0.163 benign 0.83 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs776306357 Xq26.1 X 130015345C> T null A V 458 458 missense 0.005 benign 0.44 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs769317272 Xq26.1 X 130015348C> T null P L 459 459 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs900340034 Xq26.1 X 130015347C> T null P S 459 459 missense 0.301 benign 0.28 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs900340034 Xq26.1 X 130015347C> A null P T 459 459 missense 0.843 possibly damaging 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs763439988 Xq26.1 X 130015357C> A null P H 462 462 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs764529465 Xq26.1 X 130015365G> A null V I 465 465 missense 0.011 benign 0.38 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs764529465 Xq26.1 X 130015365G> C null V L 465 465 missense 0.085 benign 0.45 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1359885552 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130015372C> T null S L 467 467 missense 0.661 possibly damaging 0.09 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs890494422 Xq26.1 X 130015375A> G null E G 468 468 missense 0.389 benign 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs750640150 Xq26.1 X 130015387T> G null V G 472 472 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs767798697 Xq26.1 X 130015386G> T null V L 472 472 missense 0.987 probably damaging 0.09 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs139863820 Xq26.1 X 130015404A> G null S G 478 478 0.003709 missense 0.003 benign 0.35 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs754027834 Xq26.1 X 130015407G> A null E K 479 479 missense 0.885 possibly damaging 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs754027834 Xq26.1 X 130015407G> C null E Q 479 479 missense 0.965 probably damaging 0.16 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs746950692 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130015413G> A null V M 481 481 missense 0.034 benign 0.06 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs138477961 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130015420G> A null G E 483 483 2.65E-4 missense 0.83 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs757026766 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130015419G> A null G R 483 483 missense 0.142 benign 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,TOPMed,gnomAD rs371566085 Xq26.1 X 130015425C> T null P S 485 485 missense 0.022 benign 0.16 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1182680392 Xq26.1 X 130015428G> A null E K 486 486 missense 0.54 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374938722 Xq26.1 X 130015431G> A null G R 487 487 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1200958897 Xq26.1 X 130015434C> A null Q K 488 488 missense 0.73 possibly damaging 0.49 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1024578984 Xq26.1 X 130015440C> G null R G 490 490 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201843717 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 Xq26.1 X 130015441G> A null R Q 490 490 7.95E-4 missense 0.99 probably damaging 0.11 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1024578984 Xq26.1 X 130015440C> T null R W 490 490 missense 0.997 probably damaging 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1467434627 Xq26.1 X 130015446G> A null G R 492 492 missense 0.962 probably damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs774794739 Xq26.1 X 130015447G> T null G V 492 492 missense 0.943 probably damaging 0.14 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs762279678 Xq26.1 X 130015449G> A null G S 493 493 missense 0.719 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs767888511 Xq26.1 X 130015453C> T null S F 494 494 missense 0.66 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs992482125 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130015458G> A null V I 496 496 missense 0.056 benign 0.16 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1304079164 Xq26.1 X 130015461C> G null P A 497 497 missense 0.078 benign 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1343101372 Xq26.1 X 130015464G> C null E Q 498 498 missense 0.791 possibly damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs773511187 Xq26.1 X 130015473C> T null P S 501 501 missense 0.083 benign 0.38 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1569370429 Xq26.1 X 130015483A> G null K R 504 504 missense 0.034 benign 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1301926252 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130015487C> A null N K 505 505 missense 0.121 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs760935379 Xq26.1 X 130015486A> G null N S 505 505 missense 0.011 benign 0.74 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201294115 Xq26.1 X 130015498G> A null R Q 509 509 2.65E-4 missense 0.063 benign 0.1 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs766647763 Xq26.1 X 130015497C> T null R W 509 509 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs915550831 Xq26.1 X 130015500A> C null I L 510 510 missense 0.26 benign 0.31 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1325989470 Xq26.1 X 130015510A> G null K R 513 513 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1271951254 Xq26.1 X 130015512C> T null P S 514 514 missense 0.73 possibly damaging 0.08 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs765429155 Xq26.1 X 130015515T> C null Y H 515 515 missense 0.861 possibly damaging 0.42 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs376491937 Xq26.1 X 130015531A> G null N S 520 520 missense 0.022 benign 0.16 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC rs777379760 Xq26.1 X 130015533C> A null P T 521 521 2.65E-4 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,gnomAD rs750128792 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130015536G> A null V I 522 522 missense 0.12 benign 0.1 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1163092549 Xq26.1 X 130015569C> A null L M 533 533 missense 0.904 possibly damaging 0.05 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,gnomAD rs746529597 Xq26.1 X 130015573C> A null A E 534 534 2.65E-4 missense 0.736 possibly damaging 0.18 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs931835051 Xq26.1 X 130015576T> C null L P 535 535 missense 0.03 benign 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs757728917 Xq26.1 X 130015593G> A null G S 541 541 2.65E-4 missense 0.011 benign 0.81 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs144041395 cosmic curated [Cosmic]: central_nervous_system, [Cosmic]: pancreas pubmed:23592488,cosmic_study:382,cosmic_study:472 Xq26.1 X 130015594G> T null G V 541 541 missense 0.173 benign 0.18 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs748680718 Xq26.1 X 130015602A> G null I V 544 544 missense 0.001 benign 0.77 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs772509421 Xq26.1 X 130015606G> T null R L 545 545 missense 0.43 benign 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs772509421 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130015606G> A null R Q 545 545 missense 0.306 benign 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1053080075 Xq26.1 X 130015612A> C null N T 547 547 missense 0.007 benign 0.72 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,gnomAD rs200101063 Xq26.1 X 130015617G> A null G R 549 549 2.65E-4 missense 0.943 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1569370598 Xq26.1 X 130015623G> A null E K 551 551 missense 0.616 possibly damaging 0.16 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs890351825 Xq26.1 X 130015627A> G null E G 552 552 missense 0.041 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs890351825 Xq26.1 X 130015627A> T null E V 552 552 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1321729120 Xq26.1 X 130015636G> A null S N 555 555 missense 0.805 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,dbSNP rs1057522091 Xq26.1 X 130015635A> C null S R 555 555 missense 0.905 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs771450837 Xq26.1 X 130015656A> T null T S 562 562 missense 0.121 benign 0.41 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1217298096 Xq26.1 X 130015659C> T null P S 563 563 missense 0.061 benign 0.82 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs776942469 Xq26.1 X 130015665A> T null M L 565 565 missense 0.0 benign 0.25 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1569370655 Xq26.1 X 130015666T> C null M T 565 565 missense 0.0 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs865965348 Xq26.1 X 130015671G> A null G S 567 567 missense 0.487 possibly damaging 0.18 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1057522774 Xq26.1 X 130015675C> A null P H 568 568 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) dbSNP,gnomAD rs1057522774 Xq26.1 X 130015675C> T null P L 568 568 missense 0.677 possibly damaging 0.1 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs759886278 cosmic curated [Cosmic]: central_nervous_system, [Cosmic]: lung pubmed:23856246,cosmic_study:504 Xq26.1 X 130015674C> T null P S 568 568 missense 0.068 benign 0.19 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs752779465 Xq26.1 X 130015681G> A null G E 570 570 missense 0.787 possibly damaging 0.14 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs765404749 Xq26.1 X 130015680G> A null G R 570 570 missense 0.885 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs144332650 Xq26.1 X 130015684C> G null A G 571 571 missense 0.03 benign 0.43 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1569370689 Xq26.1 X 130015683G> C null A P 571 571 missense 0.905 possibly damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs144332650 Xq26.1 X 130015684C> T null A V 571 571 missense 0.736 possibly damaging 0.05 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs767293557 Xq26.1 X 130015693T> C null L P 574 574 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,TOPMed,gnomAD rs201754851 Xq26.1 X 130015701G> A null A T 577 577 2.65E-4 missense 0.028 benign 0.67 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs750408222 Xq26.1 X 130015702C> T null A V 577 577 missense 0.356 benign 0.48 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,gnomAD rs755857508 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130015711C> T null T M 580 580 missense 0.754 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs779877404 Xq26.1 X 130015726A> G null Q R 585 585 missense 0.487 possibly damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs754689076 Xq26.1 X 130015729T> C null V A 586 586 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs753462022 Xq26.1 X 130015728G> A null V M 586 586 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1375559977 Xq26.1 X 130015741A> G null Y C 590 590 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs148385554 Xq26.1 X 130015743A> T null M L 591 591 missense 0.003 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs148385554 Xq26.1 X 130015743A> G null M V 591 591 missense 0.109 benign 0.22 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs747551517 Xq26.1 X 130015750A> G null H R 593 593 missense 0.889 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1345386158 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:376,cosmic_study:417 Xq26.1 X 130015749C> T null H Y 593 593 missense 0.889 possibly damaging 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs771613627 Xq26.1 X 130015756T> C null L P 595 595 missense 0.952 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1183853027 Xq26.1 X 130015758G> C null V L 596 596 missense 0.465 possibly damaging 0.3 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1429141371 Xq26.1 X 130015770C> A null P T 600 600 missense 0.406 benign 0.37 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs771399505 Xq26.1 X 130015773C> A null Q K 601 601 missense 0.968 probably damaging 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs759819227 Xq26.1 X 130015790G> C null M I 606 606 missense 0.001 benign 0.53 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs777175407 Xq26.1 X 130015789T> C null M T 606 606 missense 0.098 benign 0.41 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1433469129 Xq26.1 X 130015792C> T null P L 607 607 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs770210399 Xq26.1 X 130015791C> A null P T 607 607 5.3E-4 missense 0.88 possibly damaging 0.09 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1360150984 Xq26.1 X 130015812C> G null H D 614 614 missense 0.54 possibly damaging 0.62 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1446887595 Xq26.1 X 130015817C> A null D E 615 615 missense 0.057 benign 0.8 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201581660 Xq26.1 X 130015815G> C null D H 615 615 2.65E-4 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201581660 Xq26.1 X 130015815G> A null D N 615 615 2.65E-4 missense 0.805 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs750308561 Xq26.1 X 130015816A> T null D V 615 615 missense 0.899 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1028147665 Xq26.1 X 130015819G> A null S N 616 616 missense 0.003 benign 0.17 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs760649571 Xq26.1 X 130015837T> C null I T 622 622 missense 0.007 benign 0.52 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs753686340 Xq26.1 X 130015840T> C null L S 623 623 missense 0.918 probably damaging 0.4 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs754777298 Xq26.1 X 130015845G> C null V L 625 625 missense 0.542 possibly damaging 0.17 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs754777298 Xq26.1 X 130015845G> A null V M 625 625 missense 0.909 probably damaging 0.05 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369799809 Xq26.1 X 130015867G> A null G D 632 632 missense 0.229 benign 0.07 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1457539458 Xq26.1 X 130015872A> G null S G 634 634 missense 0.001 benign 0.3 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1459956210 Xq26.1 X 130015876C> T null T I 635 635 missense 0.719 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs565992456 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 Xq26.1 X 130015881C> T null R C 637 637 missense 0.556 possibly damaging 0.1 tolerated - low confidence 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs187190724 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130015882G> A null R H 637 637 5.3E-4 missense 0.454 possibly damaging 0.18 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs757897360 Xq26.1 X 130015884C> T null P S 638 638 missense 0.003 benign 0.58 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1435293196 Xq26.1 X 130015909T> C null L P 646 646 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139795092 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130015915G> A null R Q 648 648 missense 0.933 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1022639646 Xq26.1 X 130015923A> C null M L 651 651 missense 0.014 benign 0.32 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs746169893 Xq26.1 X 130015924T> C null M T 651 651 missense 0.001 benign 0.47 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35470604 Xq26.1 X 130015930A> G null K R 653 653 0.00106 missense 0.069 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1391700511 Xq26.1 X 130015938G> C null G R 656 656 missense 0.976 probably damaging 0.13 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1435618946 Xq26.1 X 130015944G> A null V M 658 658 missense 0.155 benign 0.41 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs978568103 Xq26.1 X 130015950T> C null F L 660 660 missense 0.069 benign 0.05 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs775528040 Xq26.1 X 130015951T> C null F S 660 660 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1569371081 Xq26.1 X 130015962A> G null T A 664 664 missense 0.013 benign 0.26 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs760588293 Xq26.1 X 130015972G> A null R Q 667 667 missense 0.127 benign 0.22 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373106469 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 Xq26.1 X 130015971C> T null R W 667 667 missense 0.984 probably damaging 0.0 deleterious - low confidence 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1219526049 Xq26.1 X 130015978A> G null D G 669 669 missense 0.009 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs921699067 Xq26.1 X 130015992G> A null A T 674 674 missense 0.022 benign 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1260035677 Xq26.1 X 130015996C> T null P L 675 675 missense 0.356 benign 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1170303027 Xq26.1 X 130015999A> G null Q R 676 676 missense 0.359 benign 0.5 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1449963294 Xq26.1 X 130016002G> T null R M 677 677 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1221402807 Xq26.1 X 130016005G> C null G A 678 678 missense 0.996 probably damaging 0.59 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs766242960 Xq26.1 X 130016008A> G null Q R 679 679 missense 0.546 possibly damaging 0.36 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1191937890 [NCI-TCGA]: Variant assessed as Somatic; impact. Xq26.1 X 130016010G> A null A T 680 680 missense 0.022 benign 0.06 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs911694684 Xq26.1 X 130016020G> A null R Q 683 683 missense 0.748 possibly damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,gnomAD rs759209893 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130016019C> T null R W 683 683 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1242528271 Xq26.1 X 130016028G> A null A T 686 686 missense 0.01 benign 0.44 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144120338 Xq26.1 X 130016031G> A null G R 687 687 2.65E-4 missense 0.579 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1410923837 Xq26.1 X 130016034C> G null Q E 688 688 missense 0.647 possibly damaging 0.25 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs758108856 Xq26.1 X 130016041G> C null R P 690 690 missense 0.593 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1230703128 Xq26.1 X 130016056G> A null S N 695 695 missense 0.211 benign 0.21 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1428613386 Xq26.1 X 130016059T> C null V A 696 696 missense 0.163 benign 0.59 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs751056161 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq26.1 X 130016058G> A null V I 696 696 missense 0.011 benign 0.52 tolerated - low confidence 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs781751083 Xq26.1 X 130016064G> T null V F 698 698 missense 0.483 possibly damaging 0.16 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs746401496 Xq26.1 X 130016071C> T null A V 700 700 missense 0.121 benign 0.23 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs773144994 Xq26.1 X 130016074G> A null C Y 701 701 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1357737113 Xq26.1 X 130016076A> G null K E 702 702 missense 0.84 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs780511102 Xq26.1 X 130016087G> T null W C 705 705 missense 0.983 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs930638544 Xq26.1 X 130016098A> G null D G 709 709 missense 0.006 benign 0.58 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144988023 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine pubmed:23204322,cosmic_study:414,cosmic_study:442 Xq26.1 X 130016104C> T null T M 711 711 0.003444 missense 0.023 benign 0.12 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1324004130 Xq26.1 X 130016107A> C null E A 712 712 missense 0.465 possibly damaging 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs774565678 [NCI-TCGA]: Variant assessed as Somatic; impact. Xq26.1 X 130016116C> T null P L 715 715 missense 0.422 benign 0.04 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs772166766 Xq26.1 X 130016118C> T null P S 716 716 missense 0.005 benign 0.14 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs776500693 Xq26.1 X 130016122A> G null K R 717 717 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs759565314 Xq26.1 X 130016124A> G null K E 718 718 missense 0.163 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1163312907 Xq26.1 X 130016127A> T null M L 719 719 missense 0.001 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs775421282 Xq26.1 X 130016131A> G null K R 720 720 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142200097 Xq26.1 X 130016137G> C null G A 722 722 2.65E-4 missense 0.225 benign 0.16 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142200097 Xq26.1 X 130016137G> A null G D 722 722 2.65E-4 missense 0.306 benign 0.28 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs763773413 Xq26.1 X 130016136G> A null G S 722 722 missense 0.024 benign 0.54 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs376032432 Xq26.1 X 130016139A> G null K E 723 723 missense 0.291 benign 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1425522427 Xq26.1 X 130016140A> G null K R 723 723 missense 0.006 benign 0.23 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs750867003 Xq26.1 X 130016143A> G null E G 724 724 missense 0.406 benign 0.38 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs756715212 Xq26.1 X 130016151A> G null S G 727 727 missense 0.0 benign 0.96 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs780273333 Xq26.1 X 130016152G> A null S N 727 727 missense 0.15 benign 0.27 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs755298116 Xq26.1 X 130016159G> T null E D 729 729 missense 0.031 benign 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1480666424 Xq26.1 X 130016160C> G null Q E 730 730 missense 0.001 benign 0.9 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs772115375 Xq26.1 X 130016165G> C null Q H 731 731 missense 0.655 possibly damaging 0.47 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs779063643 Xq26.1 X 130016163C> A null Q K 731 731 missense 0.15 benign 0.98 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs748389193 Xq26.1 X 130016164A> G null Q R 731 731 missense 0.271 benign 0.72 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs200529481 Xq26.1 X 130016167T> C null L P 732 732 missense 0.201 benign 0.27 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs775294671 Xq26.1 X 130016187G> T null V L 739 739 missense 0.001 benign 0.51 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs775294671 Xq26.1 X 130016187G> A null V M 739 739 missense 0.009 benign 0.19 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1238653823 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130016194G> A null R Q 741 741 missense 0.072 benign 0.14 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs774123074 Xq26.1 X 130016193C> T null R W 741 741 missense 0.971 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs774848773 Xq26.1 X 130016202C> G null H D 744 744 missense 0.536 possibly damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1569371526 Xq26.1 X 130016203A> G null H R 744 744 missense 0.439 benign 0.06 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs774848773 Xq26.1 X 130016202C> T null H Y 744 744 missense 0.359 benign 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs750003501 Xq26.1 X 130016206G> A null R K 745 745 missense 0.062 benign 0.14 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs761540376 Xq26.1 X 130020989G> A null R Q 749 749 missense 0.806 possibly damaging 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201259468 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 Xq26.1 X 130020988C> T null R W 749 749 5.3E-4 missense 0.984 probably damaging 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371054533 Xq26.1 X 130021006C> A null P T 755 755 missense 0.121 benign 0.17 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375550141 Xq26.1 X 130021035G> T null R S 764 764 missense 0.385 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375550141 Xq26.1 X 130021035G> C null R S 764 764 missense 0.385 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1330822282 Xq26.1 X 130021037G> T null G V 765 765 missense 0.796 possibly damaging 0.17 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1415325990 Xq26.1 X 130021039G> A null A T 766 766 missense 0.019 benign 0.37 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1377268528 Xq26.1 X 130021046A> T null D V 768 768 missense 0.09 benign 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,gnomAD rs769316176 Xq26.1 X 130021049C> T null S L 769 769 2.65E-4 missense 0.99 probably damaging 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs760079112 Xq26.1 X 130021055A> G null K R 771 771 missense 0.879 possibly damaging 0.1 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs753119842 Xq26.1 X 130021060C> T null H Y 773 773 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1409202096 Xq26.1 X 130021065T> A null N K 774 774 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147703991 Xq26.1 X 130021064A> G null N S 774 774 2.65E-4 missense 0.987 probably damaging 0.18 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1452173710 Xq26.1 X 130021067G> A null G E 775 775 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs933989121 Xq26.1 X 130021075G> A null G R 778 778 missense 0.563 possibly damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1260822189 Xq26.1 X 130021080G> T null K N 779 779 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1476942233 Xq26.1 X 130021081C> T null H Y 780 780 missense 0.889 possibly damaging 0.14 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1170265378 Xq26.1 X 130021090C> G null R G 783 783 missense 0.691 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1471492153 Xq26.1 X 130021091G> A null R Q 783 783 missense 0.063 benign 0.06 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1170265378 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130021090C> T null R W 783 783 missense 0.967 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs764336611 Xq26.1 X 130021097C> T null P L 785 785 missense 0.011 benign 0.28 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1390635020 Xq26.1 X 130021102A> C null K Q 787 787 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368883442 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130021106C> T null P L 788 788 missense 0.481 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs373723553 Xq26.1 X 130021118C> G null S C 792 792 missense 0.794 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs373723553 cosmic curated [Cosmic]: kidney cosmic_study:416 Xq26.1 X 130021118C> T null S F 792 792 missense 0.584 possibly damaging 0.01 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,dbSNP,gnomAD rs755020390 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xq26.1 X 130021129C> T null R * 796 796 stop gained 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs779003763 Xq26.1 X 130021130G> A null R Q 796 796 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl,dbSNP rs1057522636 Xq26.1 X 130021136A> C null D A 798 798 missense 0.225 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs762282115 Xq26.1 X 130021135G> A null D N 798 798 2.65E-4 missense 0.014 benign 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs772876096 Xq26.1 X 130021138A> G null S G 799 799 missense 0.003 benign 0.83 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372174837 Xq26.1 X 130021144G> A null E K 801 801 missense 0.992 probably damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372174837 Xq26.1 X 130021144G> C null E Q 801 801 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs767569401 Xq26.1 X 130021147G> A null E K 802 802 7.95E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA rs776360677 [NCI-TCGA]: Variant assessed as Somatic; impact. Xq26.1 X 130022929C> T null R C 814 814 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs745317901 Xq26.1 X 130022930G> A null R H 814 814 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1486955570 Xq26.1 X 130022944G> A null V M 819 819 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1198983302 Xq26.1 X 130022954G> C null S T 822 822 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs751256102 Xq26.1 X 130025002G> A null S N 834 834 missense 0.829 possibly damaging 0.06 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs780783547 Xq26.1 X 130025016A> G null M V 839 839 missense 0.003 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1431809650 Xq26.1 X 130025020C> A null A E 840 840 missense 0.719 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1431809650 Xq26.1 X 130025020C> T null A V 840 840 missense 0.061 benign 0.09 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs867533859 Xq26.1 X 130025030C> A null D E 843 843 missense 0.292 benign 0.19 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs745569037 Xq26.1 X 130025038G> A null S N 846 846 missense 0.031 benign 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs964809978 Xq26.1 X 130025042G> C null Q H 847 847 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs150252607 Xq26.1 X 130025046G> A null V I 849 849 missense 0.061 benign 0.96 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs201538315 Xq26.1 X 130025053C> T null P L 851 851 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC rs369155489 Xq26.1 X 130025056C> T null T I 852 852 missense 0.406 benign 0.29 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs749785490 Xq26.1 X 130025059A> T null E V 853 853 missense 0.406 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1285133756 Xq26.1 X 130025061G> A null E K 854 854 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1447366476 Xq26.1 X 130025069G> C null E D 856 856 missense 0.546 possibly damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs768984274 Xq26.1 X 130025067G> A null E K 856 856 missense 0.31 benign 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs988790925 Xq26.1 X 130025079C> A null P T 860 860 missense 0.359 benign 0.2 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs762038678 Xq26.1 X 130025082A> C null T P 861 861 missense 0.439 benign 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1464137864 Xq26.1 X 130025094C> T null R C 865 865 missense 0.984 probably damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs772512600 Xq26.1 X 130025095G> A null R H 865 865 missense 0.966 probably damaging 0.24 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs537443044 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130025098G> A null R Q 866 866 missense 0.063 benign 0.06 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1225621645 Xq26.1 X 130025103G> T null V L 868 868 missense 0.015 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1225621645 Xq26.1 X 130025103G> C null V L 868 868 missense 0.015 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1225621645 Xq26.1 X 130025103G> A null V M 868 868 missense 0.808 possibly damaging 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1256192993 Xq26.1 X 130025110A> G null K R 870 870 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs184232395 Xq26.1 X 130025119G> A null R Q 873 873 5.3E-4 missense 0.127 benign 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs766565765 Xq26.1 X 130025118C> T null R W 873 873 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs759677518 Xq26.1 X 130025125C> G null T S 875 875 missense 0.057 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs908085298 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130025133C> T null R C 878 878 missense 0.931 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371978706 Xq26.1 X 130025134G> A null R H 878 878 missense 0.036 benign 0.7 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs939681879 Xq26.1 X 130025143A> G null H R 881 881 missense 0.015 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1448926208 Xq26.1 X 130025158C> T null S F 886 886 missense 0.804 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375086367 Xq26.1 X 130025176G> A null R Q 892 892 missense 0.563 possibly damaging 0.29 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs113413700 Xq26.1 X 130025178A> G null R G 893 893 missense 0.546 possibly damaging 0.13 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1171981283 Xq26.1 X 130025180G> C null R S 893 893 missense 0.546 possibly damaging 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1348032239 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130025181C> T null H Y 894 894 missense 0.986 probably damaging 0.31 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1293866125 Xq26.1 X 130025187T> G null W G 896 896 missense 0.546 possibly damaging 0.36 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs750069944 [NCI-TCGA]: Variant assessed as Somatic; impact. Xq26.1 X 130025191G> A null R Q 897 897 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1317275824 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 Xq26.1 X 130025197G> A null R Q 899 899 missense 0.99 probably damaging 0.06 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1406940746 Xq26.1 X 130025206C> T null P L 902 902 missense 0.999 probably damaging 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1049230582 Xq26.1 X 130025227G> A null R Q 909 909 missense 0.99 probably damaging 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1276549764 Xq26.1 X 130025226C> T null R W 909 909 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1333108304 Xq26.1 X 130025229C> G null Q E 910 910 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1340209261 Xq26.1 X 130025239A> T null D V 913 913 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs755820328 Xq26.1 X 130025242C> G null T S 914 914 missense 0.647 possibly damaging 0.2 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs779691590 Xq26.1 X 130025251A> G null E G 917 917 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed rs748676103 Xq26.1 X 130025264A> C null E D 921 921 missense 0.001 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1476602028 Xq26.1 X 130025265G> C null E Q 922 922 missense 0.756 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs768240005 Xq26.1 X 130025289A> G null K E 930 930 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,gnomAD rs748288533 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. Xq26.1 X 130025295C> T null R * 932 932 2.65E-4 stop gained 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1005100760 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130025296G> A null R Q 932 932 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1475568565 Xq26.1 X 130025299G> A null R K 933 933 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143797443 Xq26.1 X 130025302G> T null R L 934 934 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143797443 Xq26.1 X 130025302G> C null R P 934 934 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143797443 Xq26.1 X 130025302G> A null R Q 934 934 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,gnomAD rs748742225 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130025301C> T null R W 934 934 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1187104407 Xq26.1 X 130025309G> T null K N 936 936 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1187104407 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130025309G> C null K N 936 936 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs866613249 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130025311G> T null S I 937 937 missense 0.663 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs747224898 Xq26.1 X 130025314G> A null R Q 938 938 missense 0.99 probably damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1417630507 Xq26.1 X 130025323A> G null Q R 941 941 missense 0.311 benign 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1216044383 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130025331G> A null E K 944 944 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1283447755 Xq26.1 X 130025347A> C null Q P 949 949 missense 0.791 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141583187 Xq26.1 X 130025355G> A null E K 952 952 missense 0.654 possibly damaging 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs139239140 Xq26.1 X 130025362G> A null R Q 954 954 missense 0.024 benign 0.05 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs146180952 Xq26.1 X 130025361C> T null R W 954 954 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs141666104 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130025365G> A null R Q 955 955 5.3E-4 missense 0.927 probably damaging 0.18 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1316352614 Xq26.1 X 130025364C> T null R W 955 955 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1285812367 Xq26.1 X 130025367A> G null K E 956 956 missense 0.941 probably damaging 0.34 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1447184056 Xq26.1 X 130025368A> C null K T 956 956 missense 0.957 probably damaging 0.08 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs755904684 Xq26.1 X 130025371G> C null G A 957 957 missense 0.09 benign 0.59 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1203729362 Xq26.1 X 130028638T> C null L S 961 961 missense 0.011 benign 0.33 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs201424802 Xq26.1 X 130028646C> T null R C 964 964 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs753405048 cosmic curated [Cosmic]: pancreas cosmic_study:328 Xq26.1 X 130028647G> A null R H 964 964 missense 0.969 probably damaging 0.02 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs753405048 Xq26.1 X 130028647G> T null R L 964 964 missense 0.94 probably damaging 0.09 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs753405048 Xq26.1 X 130028647G> C null R P 964 964 missense 0.973 probably damaging 0.08 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1170661109 Xq26.1 X 130028677T> C null L S 974 974 missense 0.001 benign 0.5 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,dbSNP,gnomAD rs778386483 Xq26.1 X 130028685C> T null R C 977 977 missense 0.011 benign 0.24 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs747541826 Xq26.1 X 130028686G> A null R H 977 977 missense 0.007 benign 0.27 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1408428116 Xq26.1 X 130028691A> T null R W 979 979 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs757674715 Xq26.1 X 130028697A> G null R G 981 981 missense 0.794 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs746063839 Xq26.1 X 130028702C> A null N K 982 982 missense 0.163 benign 0.88 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs746063839 Xq26.1 X 130028702C> G null N K 982 982 missense 0.163 benign 0.88 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed rs769998845 Xq26.1 X 130028706C> T null L F 984 984 missense 0.862 possibly damaging 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed rs769998845 Xq26.1 X 130028706C> G null L V 984 984 missense 0.389 benign 0.32 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1336654568 Xq26.1 X 130028709T> A null L M 985 985 missense 0.935 probably damaging 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs199973665 Xq26.1 X 130028727G> A null G R 991 991 5.3E-4 missense 0.865 possibly damaging 0.05 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1223782435 Xq26.1 X 130028740C> T null S L 995 995 missense 0.015 benign 0.57 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,TOPMed rs370526822 Xq26.1 X 130028748G> A null G S 998 998 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs944433736 Xq26.1 X 130028765C> G null N K 1003 1003 missense 0.736 possibly damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs770631926 Xq26.1 X 130028770A> G null E G 1005 1005 missense 0.794 possibly damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl,dbSNP rs1556099892 Xq26.1 X 130028772G> A null E K 1006 1006 missense 0.099 benign 0.19 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs150565886 Xq26.1 X 130028782G> C null C S 1009 1009 missense 0.012 benign 0.42 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs150565886 Xq26.1 X 130028782G> A null C Y 1009 1009 missense 0.718 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1196447733 Xq26.1 X 130028796G> A null E K 1014 1014 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1245949332 Xq26.1 X 130028815G> A null R Q 1020 1020 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1293151835 Xq26.1 X 130028820T> G null C G 1022 1022 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs752431548 Xq26.1 X 130028835A> T null M L 1027 1027 missense 0.003 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs905184676 Xq26.1 X 130028838G> A null A T 1028 1028 missense 0.022 benign 0.05 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,gnomAD rs753854481 Xq26.1 X 130028842C> T null T I 1029 1029 2.65E-4 missense 0.187 benign 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1002284066 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq26.1 X 130028844G> A null V I 1030 1030 missense 0.011 benign 1.0 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1002284066 Xq26.1 X 130028844G> C null V L 1030 1030 missense 0.085 benign 0.23 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1389322464 Xq26.1 X 130028850G> A null E K 1032 1032 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs922181481 Xq26.1 X 130034464C> T null R C 1039 1039 missense 0.007 benign 0.23 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes rs775282205 Xq26.1 X 130034475G> T null Q H 1042 1042 2.65E-4 missense 0.773 possibly damaging 0.17 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1427725665 Xq26.1 X 130034480A> C null K T 1044 1044 missense 0.192 benign 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs930856117 Xq26.1 X 130034486G> C null R P 1046 1046 missense 0.001 benign 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs930856117 Xq26.1 X 130034486G> A null R Q 1046 1046 missense 0.003 benign 0.14 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1425686915 Xq26.1 X 130034500C> G null P A 1051 1051 missense 0.028 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1048092480 Xq26.1 X 130034509G> A null V M 1054 1054 missense 0.001 benign 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs888106707 Xq26.1 X 130034516C> T null P L 1056 1056 missense 0.011 benign 0.13 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1381338537 Xq26.1 X 130034519C> T null T I 1057 1057 missense 0.001 benign 0.37 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1003987652 Xq26.1 X 130034528G> A null C Y 1060 1060 missense 0.055 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1327701948 Xq26.1 X 130034530A> G null T A 1061 1061 missense 0.003 benign 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1050914657 Xq26.1 X 130034546G> A null R Q 1066 1066 missense 0.417 benign 0.31 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs887061335 Xq26.1 X 130034549G> A null S N 1067 1067 missense 0.0 benign 0.47 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1283670638 Xq26.1 X 130034555G> T null S I 1069 1069 missense 0.034 benign 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1435090398 Xq26.1 X 130034554A> C null S R 1069 1069 missense 0.176 benign 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1487409050 Xq26.1 X 130034566G> C null A P 1073 1073 missense 0.059 benign 0.2 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1487409050 Xq26.1 X 130034566G> A null A T 1073 1073 missense 0.0 benign 0.1 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1569382752 Xq26.1 X 130034582C> T null T I 1078 1078 missense 0.117 benign 0.09 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs771585217 Xq26.1 X 130034584G> A null A T 1079 1079 missense 0.006 benign 0.16 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1262449552 Xq26.1 X 130034585C> T null A V 1079 1079 missense 0.031 benign 0.08 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs759336567 Xq26.1 X 130034587C> T null R W 1080 1080 missense 0.648 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1004141288 Xq26.1 X 130034595C> G null I M 1082 1082 missense 0.859 possibly damaging 0.27 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1217561311 Xq26.1 X 130034599C> G null P A 1084 1084 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1217561311 Xq26.1 X 130034599C> T null P S 1084 1084 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1017225460 Xq26.1 X 130034605G> T null A S 1086 1086 missense 0.942 probably damaging 0.05 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1230916733 Xq26.1 X 130034606C> T null A V 1086 1086 missense 0.218 benign 0.21 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1377860221 Xq26.1 X 130034608C> T null R C 1087 1087 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1385147534 Xq26.1 X 130034611C> T null R W 1088 1088 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1378883628 Xq26.1 X 130034662C> T null R C 1105 1105 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs762735567 Xq26.1 X 130034663G> A null R H 1105 1105 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1465490414 Xq26.1 X 130034675A> G null K R 1109 1109 missense 0.991 probably damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs779122930 Xq26.1 X 130037369T> A null D E 1110 1110 missense 0.99 probably damaging 0.18 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs748162474 Xq26.1 X 130037377T> A null L H 1113 1113 missense 0.911 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1406203283 Xq26.1 X 130037398G> C null S T 1120 1120 missense 0.914 probably damaging 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1454456734 Xq26.1 X 130037403G> T null D Y 1122 1122 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,gnomAD rs758440023 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130037415C> T null R C 1126 1126 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs758082520 Xq26.1 X 130037416G> A null R H 1126 1126 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs769601444 Xq26.1 X 130037432C> A null Y * 1131 1131 stop gained 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1262531927 Xq26.1 X 130037448G> A null A T 1137 1137 missense 0.995 probably damaging 0.1 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs749106770 Xq26.1 X 130037458G> A null R Q 1140 1140 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1429249408 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130037467C> A null T N 1143 1143 missense 0.961 probably damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs200861335 Xq26.1 X 130037469G> C null D H 1144 1144 missense 0.969 probably damaging 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs200861335 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130037469G> A null D N 1144 1144 missense 0.794 possibly damaging 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1270553119 Xq26.1 X 130037479A> G null N S 1147 1147 missense 0.826 possibly damaging 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145672322 Xq26.1 X 130037495C> G null H Q 1152 1152 2.65E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1221522818 Xq26.1 X 130037496G> A null G R 1153 1153 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP rs368783964 Xq26.1 X 130037530C> T null T M 1164 1164 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs548847410 Xq26.1 X 130039138C> A null P T 1166 1166 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs753871830 Xq26.1 X 130039169T> C null L P 1176 1176 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1162602510 Xq26.1 X 130039177A> G null I V 1179 1179 missense 0.28 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs754784544 Xq26.1 X 130039183C> T null L F 1181 1181 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs747820077 Xq26.1 X 130039189C> G null L V 1183 1183 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1437757741 Xq26.1 X 130039229G> A null G D 1196 1196 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs777489381 Xq26.1 X 130039231C> G null Q E 1197 1197 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs868232321 Xq26.1 X 130039235C> A null T K 1198 1198 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs746466245 Xq26.1 X 130039238C> T null A V 1199 1199 missense 0.994 probably damaging 0.21 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs770453813 Xq26.1 X 130039242G> T null M I 1200 1200 missense 0.216 benign 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368497729 Xq26.1 X 130039258G> A null D N 1206 1206 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs770141114 Xq26.1 X 130039261A> G null T A 1207 1207 missense 0.006 benign 0.41 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs142458050 Xq26.1 X 130039262C> A null T N 1207 1207 missense 0.003 benign 0.26 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs868071876 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq26.1 X 130039270C> T null R C 1210 1210 missense 0.966 probably damaging 0.01 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372398885 Xq26.1 X 130039271G> A null R H 1210 1210 2.65E-4 missense 0.966 probably damaging 0.08 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372398885 Xq26.1 X 130039271G> T null R L 1210 1210 2.65E-4 missense 0.792 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1460785421 Xq26.1 X 130050722C> A null L I 1216 1216 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375941873 Xq26.1 X 130050726C> T null S L 1217 1217 missense 0.267 benign 0.18 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1348297644 Xq26.1 X 130050735A> G null Q R 1220 1220 missense 0.979 probably damaging 0.15 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs770218488 Xq26.1 X 130050741G> A null R Q 1222 1222 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151302991 Xq26.1 X 130050740C> T null R W 1222 1222 2.65E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs776093683 Xq26.1 X 130050750G> C null G A 1225 1225 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1326862230 Xq26.1 X 130050758G> A null G S 1228 1228 missense 0.011 benign 0.97 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,gnomAD rs746791120 Xq26.1 X 130050765C> T null S F 1230 1230 2.65E-4 missense 0.935 probably damaging 0.14 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,gnomAD rs774402072 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq26.1 X 130050786C> T null S F 1237 1237 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1452480463 Xq26.1 X 130050789T> C null V A 1238 1238 missense 0.716 possibly damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs994546353 Xq26.1 X 130050793G> C null L F 1239 1239 missense 0.997 probably damaging 0.21 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs762188352 Xq26.1 X 130050792T> C null L S 1239 1239 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs773602566 Xq26.1 X 130051871G> A null G R 1244 1244 missense 0.983 probably damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,TOPMed,gnomAD rs370904227 Xq26.1 X 130051893A> G null H R 1251 1251 missense 0.003 benign 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1019555474 Xq26.1 X 130051909C> G null S R 1256 1256 missense 0.483 possibly damaging 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ESP,ExAC,gnomAD rs373569866 Xq26.1 X 130051917A> C null Q P 1259 1259 0.003444 missense 0.656 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1337318303 Xq26.1 X 130051930T> A null D E 1263 1263 missense 0.057 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,NCI-TCGA,gnomAD rs150455678 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130051928G> A null D N 1263 1263 missense 0.805 possibly damaging 0.1 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,gnomAD rs748527719 Xq26.1 X 130051931C> G null P A 1264 1264 2.65E-4 missense 0.728 possibly damaging 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1273371182 Xq26.1 X 130051932C> T null P L 1264 1264 missense 0.859 possibly damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1405423621 Xq26.1 X 130051937G> C null E Q 1266 1266 missense 0.937 probably damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes rs192929833 Xq26.1 X 130051940G> C null E Q 1267 1267 2.65E-4 missense 0.013 benign 0.23 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs763785881 Xq26.1 X 130051947A> C null D A 1269 1269 missense 0.173 benign 0.47 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1220068394 Xq26.1 X 130051951C> A null F L 1270 1270 missense 0.666 possibly damaging 0.21 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs920000138 cosmic curated [Cosmic]: liver pubmed:22561517,cosmic_study:381,cosmic_study:396 Xq26.1 X 130051953T> C null M T 1271 1271 missense 0.546 possibly damaging 0.01 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1167330881 Xq26.1 X 130051965C> G null S * 1275 1275 stop gained 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs751299780 Xq26.1 X 130051969C> A null D E 1276 1276 missense 0.292 benign 0.11 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs757073201 Xq26.1 X 130051971A> G null K R 1277 1277 missense 0.991 probably damaging 0.1 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs755547824 Xq26.1 X 130051982C> T null P S 1281 1281 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs138499651 Xq26.1 X 130051992A> C null N T 1284 1284 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs952996306 Xq26.1 X 130051994C> G null L V 1285 1285 missense 0.99 probably damaging 0.26 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs749741814 Xq26.1 X 130051997C> G null Q E 1286 1286 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1302695619 Xq26.1 X 130052010C> T null S F 1290 1290 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs755452225 Xq26.1 X 130052009T> A null S T 1290 1290 missense 0.979 probably damaging 0.24 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373749929 cosmic curated [Cosmic]: stomach pubmed:22037554,cosmic_study:479 Xq26.1 X 130052012C> T null R C 1291 1291 missense 0.897 possibly damaging 0.1 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs773739492 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xq26.1 X 130052013G> A null R H 1291 1291 2.65E-4 missense 0.023 benign 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs747299797 Xq26.1 X 130052015G> A null G R 1292 1292 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs747299797 Xq26.1 X 130052015G> T null G W 1292 1292 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs775454892 Xq26.1 X 130055870C> A null L I 1298 1298 2.65E-4 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367941726 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung pubmed:22980975,cosmic_study:431 Xq26.1 X 130055879G> A null D N 1301 1301 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs745909504 Xq26.1 X 130055907C> T null S L 1310 1310 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1340142380 Xq26.1 X 130055911G> C null R S 1311 1311 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1441742361 Xq26.1 X 130055924C> G null R G 1316 1316 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl,dbSNP rs1057521222 Xq26.1 X 130055925G> A null R Q 1316 1316 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,gnomAD rs145264434 Xq26.1 X 130055931C> T null P L 1318 1318 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1167425923 Xq26.1 X 130055942A> G null I V 1322 1322 missense 0.146 benign 0.91 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1361686165 Xq26.1 X 130055952T> C null M T 1325 1325 missense 0.062 benign 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1158601819 Xq26.1 X 130055961C> T null A V 1328 1328 missense 0.146 benign 0.1 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs772998160 Xq26.1 X 130055964A> G null E G 1329 1329 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs771837364 Xq26.1 X 130055963G> A null E K 1329 1329 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) Ensembl rs1569395697 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xq26.1 X 130055973G> A null R K 1332 1332 missense 0.979 probably damaging 0.34 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,gnomAD rs200910217 Xq26.1 X 130055979T> G null V G 1334 1334 0.002914 missense 0.202 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs766013526 Xq26.1 X 130055982C> G null A G 1335 1335 missense 0.12 benign 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs753458120 Xq26.1 X 130055984T> G null S A 1336 1336 missense 0.424 benign 0.49 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs753458120 Xq26.1 X 130055984T> C null S P 1336 1336 missense 0.061 benign 0.09 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs764883664 Xq26.1 X 130055985C> A null S Y 1336 1336 missense 0.904 possibly damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs759032399 Xq26.1 X 130055988G> A null S N 1337 1337 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs753255658 Xq26.1 X 130055987A> C null S R 1337 1337 missense 0.168 benign 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs751885685 Xq26.1 X 130055992G> C null Q H 1338 1338 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC rs778439419 Xq26.1 X 130055991A> C null Q P 1338 1338 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs757595515 Xq26.1 X 130055999A> C null T P 1341 1341 missense 0.019 benign 0.03 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1000714095 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 Xq26.1 X 130056008G> A null E K 1344 1344 missense 0.992 probably damaging 0.26 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372065215 Xq26.1 X 130056012G> C null R T 1345 1345 missense 0.546 possibly damaging 0.68 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs780165329 Xq26.1 X 130056021G> C null G A 1348 1348 missense 0.013 benign 0.56 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs780165329 Xq26.1 X 130056021G> A null G D 1348 1348 missense 0.466 possibly damaging 0.46 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs749379139 Xq26.1 X 130056028C> G null D E 1350 1350 missense 0.005 benign 1.0 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed,gnomAD rs1263051697 Xq26.1 X 130056029G> A null D N 1351 1351 missense 0.397 benign 0.12 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1183934682 Xq26.1 X 130056033G> C null R T 1352 1352 missense 0.003 benign 0.53 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs773050802 Xq26.1 X 130056036C> G null S C 1353 1353 missense 0.003 benign 0.07 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs773050802 Xq26.1 X 130056036C> T null S F 1353 1353 missense 0.311 benign 0.09 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) TOPMed rs1233257874 Xq26.1 X 130056038C> T null P S 1354 1354 missense 0.121 benign 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs759333576 Xq26.1 X 130056042C> G null P R 1355 1355 missense 0.293 benign 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143911631 Xq26.1 X 130056072G> T null R L 1365 1365 missense 0.145 benign 0.01 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143911631 Xq26.1 X 130056072G> C null R P 1365 1365 missense 0.491 possibly damaging 0.02 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143911631 Xq26.1 X 130056072G> A null R Q 1365 1365 missense 0.014 benign 0.08 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs752053901 Xq26.1 X 130056076C> A null Y * 1366 1366 stop gained 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs757608351 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23415222,cosmic_study:465 Xq26.1 X 130056077G> A null E K 1367 1367 missense 0.987 probably damaging 0.12 tolerated 1 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ESP,ExAC,gnomAD rs376355190 Xq26.1 X 130056083G> C null D H 1369 1369 missense 0.66 possibly damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs756266434 [NCI-TCGA]: Variant assessed as Somatic; impact. Xq26.1 X 130056093G> T null R L 1372 1372 missense 0.618 possibly damaging 0.04 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,TOPMed,gnomAD rs756266434 [NCI-TCGA]: Variant assessed as Somatic; impact. Xq26.1 X 130056093G> A null R Q 1372 1372 missense 0.03 benign 0.91 tolerated 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs750643826 Xq26.1 X 130056092C> T null R W 1372 1372 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) ExAC,gnomAD rs780256078 Xq26.1 X 130056095C> T null L F 1373 1373 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) 1000Genomes,ExAC,gnomAD rs192139307 Xq26.1 X 130056126G> A null C Y 1383 1383 2.65E-4 missense 0.053 benign 0.0 deleterious - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1253496937 Xq26.1 X 130056129A> G null N S 1384 1384 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6Q3 BCORL1 BCL-6 corepressor-like protein 1 (Fragment) gnomAD rs1479275097 Xq26.1 X 130056132G> C null S T 1385 1385 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs769616224 6q24.2 6 143857438A> G null D G 2 2 missense 0.001 benign 0.2 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs765911832 6q24.2 6 143857442A> G null I M 3 3 missense 0.003 benign 0.17 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1236711095 6q24.2 6 143857441T> G null I R 3 3 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1383904039 6q24.2 6 143857440A> G null I V 3 3 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs762602281 6q24.2 6 143857444A> G null Q R 4 4 missense 0.0 benign 0.59 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs751716182 6q24.2 6 143857754A> G null K R 5 5 missense 0.001 benign 0.32 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs755099118 6q24.2 6 143857763A> C null N T 8 8 missense 0.006 benign 0.57 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs781217296 6q24.2 6 143857777G> A null E K 13 13 missense 0.738 possibly damaging 0.06 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1221624441 6q24.2 6 143857782G> A null W * 14 14 stop gained 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1248001859 6q24.2 6 143857781G> A null W * 14 14 stop gained 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs748182680 6q24.2 6 143857786G> T null D Y 16 16 missense 0.181 benign 0.09 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs769742094 6q24.2 6 143857789G> A null V M 17 17 missense 0.007 benign 0.3 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs777511525 6q24.2 6 143857792G> C null D H 18 18 missense 0.912 probably damaging 0.01 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs749111026 6q24.2 6 143857793A> T null D V 18 18 missense 0.836 possibly damaging 0.01 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs770630144 6q24.2 6 143857799A> T null E V 20 20 missense 0.079 benign 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs774113447 6q24.2 6 143857802A> C null K T 21 21 missense 0.076 benign 0.31 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs759246018 6q24.2 6 143857804G> A null G R 22 22 missense 0.929 probably damaging 0.03 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed,gnomAD rs1029903525 6q24.2 6 143857811G> A null S N 24 24 missense 0.098 benign 0.16 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139648519 6q24.2 6 143857814A> G null N S 25 25 0.003794 missense 0.0 benign 0.61 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1218915900 6q24.2 6 143857818T> A null D E 26 26 missense 0.017 benign 0.21 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1274494202 6q24.2 6 143857820A> T null D V 27 27 missense 0.274 benign 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs750830284 6q24.2 6 143857823A> G null Y C 28 28 missense 0.003 benign 0.25 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs748074529 6q24.2 6 143857827C> G null D E 29 29 missense 0.273 benign 0.09 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1276725733 6q24.2 6 143857829C> T null S F 30 30 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs763431202 6q24.2 6 143857831G> A null A T 31 31 missense 0.03 benign 0.52 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog Ensembl rs1253455364 6q24.2 6 143857842G> T null L F 34 34 missense 0.031 benign 0.16 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1191902164 6q24.2 6 143857852G> T null D Y 38 38 missense 0.785 possibly damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs755223824 6q24.2 6 143857856G> A null C Y 39 39 missense 0.0 benign 1.0 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs781339027 6q24.2 6 143857858A> G null M V 40 40 missense 0.001 benign 0.55 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1167805950 6q24.2 6 143857862C> T null S F 41 41 missense 0.017 benign 0.15 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143797230 6q24.2 6 143857870G> A null G R 44 44 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs777830890 6q24.2 6 143857876A> G null T A 46 46 missense 0.003 benign 0.68 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs777830890 6q24.2 6 143857876A> C null T P 46 46 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1347134758 6q24.2 6 143857879C> G null H D 47 47 missense 0.173 benign 0.62 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1412444267 6q24.2 6 143857880A> T null H L 47 47 missense 0.001 benign 0.33 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed,gnomAD rs1339661786 6q24.2 6 143857889T> A null I K 50 50 missense 0.098 benign 0.17 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs749172482 6q24.2 6 143857888A> G null I V 50 50 missense 0.001 benign 0.74 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1295100202 6q24.2 6 143857896T> G null D E 52 52 missense 0.062 benign 1.0 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1233821264 6q24.2 6 143857894G> C null D H 52 52 missense 0.007 benign 0.05 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149742130 6q24.2 6 143857904T> G null F C 55 55 0.003195 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1469192473 6q24.2 6 143857905C> G null F L 55 55 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs745621836 6q24.2 6 143857908G> A null W * 56 56 stop gained 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs778546625 6q24.2 6 143857907G> A null W * 56 56 stop gained 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed,gnomAD rs1448301501 6q24.2 6 143857917A> C null E D 59 59 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog Ensembl rs1562332064 6q24.2 6 143857919C> T null T I 60 60 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs771873971 6q24.2 6 143857921A> C null K Q 61 61 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs926689969 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 6q24.2 6 143857925G> A null S N 62 62 missense 0.994 probably damaging 0.0 deleterious 1 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1202701022 6q24.2 6 143857926T> A null S R 62 62 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs775225467 6q24.2 6 143857927C> T null R C 63 63 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370827090 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 6q24.2 6 143857928G> A null R H 63 63 2.0E-4 missense 0.998 probably damaging 0.02 deleterious 1 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1219969801 6q24.2 6 143857938G> C null E D 66 66 missense 0.073 benign 0.16 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC rs773817874 6q24.2 6 143857957G> T null V F 73 73 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ESP,ExAC,TOPMed,gnomAD rs149003540 6q24.2 6 143857962G> A null M I 74 74 missense 0.96 probably damaging 0.61 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog Ensembl rs930313089 6q24.2 6 143857960A> T null M L 74 74 missense 0.907 possibly damaging 0.12 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs746732168 6q24.2 6 143857964G> A null R K 75 75 missense 0.97 probably damaging 0.09 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs751940001 6q24.2 6 143857967G> A null R K 76 76 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs759833859 6q24.2 6 143857969A> C null N H 77 77 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ESP,ExAC,TOPMed,gnomAD rs143834090 6q24.2 6 143857975C> T null Q * 79 79 stop gained 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs200284526 6q24.2 6 143857982C> T null T I 81 81 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs200284526 6q24.2 6 143857982C> G null T S 81 81 missense 0.869 possibly damaging 0.25 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1176337680 6q24.2 6 143857985T> G null L R 82 82 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1335964106 6q24.2 6 143857988A> G null H R 83 83 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1456373408 6q24.2 6 143857987C> T null H Y 83 83 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs756277603 6q24.2 6 143857991A> T null D V 84 84 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs764062432 6q24.2 6 143857994A> G null E G 85 85 missense 0.967 probably damaging 0.02 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog Ensembl rs948521539 6q24.2 6 143857996A> T null R W 86 86 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,NCI-TCGA rs753858250 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 6q24.2 6 143858002G> C null E Q 88 88 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1197813887 6q24.2 6 143860430A> G null Y C 91 91 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1381113047 6q24.2 6 143860439A> G null Y C 94 94 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,NCI-TCGA,gnomAD rs757304900 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 6q24.2 6 143860441G> A null D N 95 95 missense 0.994 probably damaging 0.03 deleterious 1 A0A075B6Q4 null Protein LTV1 homolog 1000Genomes,ExAC,gnomAD rs150270712 6q24.2 6 143860446T> G null D E 96 96 2.0E-4 missense 0.77 possibly damaging 0.25 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs765271862 6q24.2 6 143860445A> G null D G 96 96 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1196857354 6q24.2 6 143860444G> A null D N 96 96 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs758328566 6q24.2 6 143860452A> C null E D 98 98 missense 0.991 probably damaging 0.08 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1194923776 6q24.2 6 143860466A> C null D A 103 103 missense 0.971 probably damaging 0.06 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed,gnomAD rs1253714429 6q24.2 6 143860468A> C null N H 104 104 missense 0.17 benign 0.35 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog 1000Genomes,ExAC,gnomAD rs199841480 6q24.2 6 143860480G> T null E * 108 108 2.0E-4 stop gained 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs754609861 6q24.2 6 143860484G> T null G V 109 109 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1168401798 6q24.2 6 143860489A> T null I F 111 111 missense 0.804 possibly damaging 0.03 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs1198742184 6q24.2 6 143860490T> C null I T 111 111 missense 0.637 possibly damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog Ensembl rs866202784 6q24.2 6 143860492C> T null Q * 112 112 stop gained 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1402309060 6q24.2 6 143860494A> T null Q H 112 112 missense 0.976 probably damaging 0.14 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1464026790 6q24.2 6 143860498G> T null D Y 114 114 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1330009448 6q24.2 6 143860501A> G null S G 115 115 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ESP,TOPMed,gnomAD rs140917307 6q24.2 6 143860503C> G null S R 115 115 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed,gnomAD rs1388149500 6q24.2 6 143860505A> G null N S 116 116 missense 0.03 benign 0.78 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs780835964 6q24.2 6 143860507C> T null R C 117 117 missense 0.479 possibly damaging 0.06 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog 1000Genomes,ExAC,TOPMed,gnomAD rs532398840 6q24.2 6 143860508G> A null R H 117 117 2.0E-4 missense 0.988 probably damaging 0.15 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1260432305 6q24.2 6 143860524G> T null L F 122 122 missense 0.975 probably damaging 0.02 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs774894634 6q24.2 6 143860526A> G null N S 123 123 missense 0.12 benign 0.21 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs746355229 6q24.2 6 143860529A> C null D A 124 124 missense 0.979 probably damaging 0.09 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1489542880 6q24.2 6 143860532A> G null Y C 125 125 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1273871295 6q24.2 6 143860531T> G null Y D 125 125 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs756041195 6q24.2 6 143860535du p null Y * 126 126 stop gained 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,gnomAD rs772468686 6q24.2 6 143860535A> C null Y S 126 126 missense 0.811 possibly damaging 0.11 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs775868074 6q24.2 6 143860538A> T null K I 127 127 missense 0.964 probably damaging 0.03 deleterious 0 A0A075B6Q4 null Protein LTV1 homolog Ensembl rs781032806 6q24.2 6 143860553A> G null K R 132 132 missense 0.338 benign 0.16 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog 1000Genomes,ExAC,TOPMed,gnomAD rs116398727 6q24.2 6 143884307G> A null W * 133 133 0.002196 missense 0 A0A075B6Q4 null Protein LTV1 homolog TOPMed rs901818972 6q24.2 6 143884306G> A null W * 133 133 missense 0 A0A075B6Q4 null Protein LTV1 homolog ExAC,TOPMed,gnomAD rs746690380 6q24.2 6 143884305T> C null W R 133 133 missense 0.0 benign 0.31 tolerated 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1369550071 6q24.2 6 143884317A> G null I V 137 137 missense 0.071 benign 0.14 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1221582379 6q24.2 6 143884323T> G null S A 139 139 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog Ensembl rs866910730 6q24.2 6 143884324C> T null S F 139 139 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B6Q4 null Protein LTV1 homolog gnomAD rs1282620723 6q24.2 6 143884329T> C null * R 141 141 stop lost 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2073670 14q32.33 14 106658177A> G null M T 2 2 0.4157 missense 0.844 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,TOPMed,gnomAD rs139161493 14q32.33 14 106658173C> G null E D 3 3 2.0E-4 missense 0.026 benign 0.28 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567397 14q32.33 14 106658174T> C null E G 3 3 missense 0.038 benign 0.11 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782168772 14q32.33 14 106658169C> A null G W 5 5 missense 0.005 benign 0.08 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs530412633 14q32.33 14 106658162C> T null S N 7 7 3.99E-4 missense 0.03 benign 0.12 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs530412633 14q32.33 14 106658162C> G null S T 7 7 3.99E-4 missense 0.013 benign 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782758399 14q32.33 14 106658158C> T null W * 8 8 stop gained 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182438044 14q32.33 14 106658160A> C null W G 8 8 9.98E-4 missense 0.672 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567380 14q32.33 14 106658156A> G null V A 9 9 missense 0.125 benign 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782475994 14q32.33 14 106658157C> T null V I 9 9 missense 0.031 benign 0.19 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782035138 14q32.33 14 106658154A> T null F I 10 10 missense 0.102 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782035138 14q32.33 14 106658154A> G null F L 10 10 missense 0.026 benign 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1435926650 14q32.33 14 106658147A> G null V A 12 12 missense 0.026 benign 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782067428 14q32.33 14 106658144G> T null A D 13 13 missense 0.755 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs548186803 14q32.33 14 106658142T> G null I L 14 14 5.99E-4 missense 0.011 benign 0.45 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs548186803 14q32.33 14 106658142T> C null I V 14 14 5.99E-4 missense 0.011 benign 0.21 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782401779 14q32.33 14 106658137A> T null F L 15 15 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782401779 14q32.33 14 106658137A> C null F L 15 15 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,TOPMed,gnomAD rs529904059 14q32.33 14 106658138A> G null F S 15 15 2.0E-4 missense 0.005 benign 0.05 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567370 14q32.33 14 106658135T> C null K R 16 16 missense 0.007 benign 0.25 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs200504122 14q32.33 14 106658029C> T null G D 17 17 missense 0.316 benign 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567284 14q32.33 14 106658026A> G null V A 18 18 missense 0.433 benign 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567285 14q32.33 14 106658027C> A null V F 18 18 missense 0.977 probably damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567282 14q32.33 14 106658023T> G null Q P 19 19 missense 0.168 benign 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782037524 14q32.33 14 106658012G> A null Q * 23 23 stop gained 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782265395 14q32.33 14 106658010C> A null Q H 23 23 missense 0.231 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782173216 14q32.33 14 106658006C> A null V L 25 25 missense 0.108 benign 0.06 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,NCI-TCGA,TOPMed,gnomAD rs782173216 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q32.33 14 106658006C> T null V M 25 25 missense 0.79 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1402923963 14q32.33 14 106658003C> T null E K 26 26 missense 0.93 probably damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782530450 14q32.33 14 106658000A> T null S T 27 27 missense 0.433 benign 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567268 14q32.33 14 106657996C> T null G E 28 28 missense 0.528 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567270 14q32.33 14 106657997C> T null G R 28 28 missense 0.797 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782516419 14q32.33 14 106657992T> A null E D 29 29 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,TOPMed,gnomAD rs11846079 14q32.33 14 106657993T> C null E G 29 29 0.3706 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,TOPMed,gnomAD rs11846079 14q32.33 14 106657993T> A null E V 29 29 0.3706 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567264 14q32.33 14 106657990C> T null G D 30 30 missense 0.213 benign 0.18 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs781819311 14q32.33 14 106657991C> T null G S 30 30 missense 0.569 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ESP,ExAC,TOPMed,gnomAD rs375467477 14q32.33 14 106657986C> A null L F 31 31 missense 0.537 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782709114 14q32.33 14 106657988A> C null L V 31 31 missense 0.433 benign 0.08 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs781889159 14q32.33 14 106657984A> G null V A 32 32 missense 0.07 benign 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes rs565561738 14q32.33 14 106657985C> A null V F 32 32 2.0E-4 missense 0.825 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC rs547218587 14q32.33 14 106657981T> G null Q P 33 33 2.0E-4 missense 0.076 benign 0.05 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed rs1325893178 14q32.33 14 106657978G> T null P H 34 34 missense 0.728 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed rs1251764047 14q32.33 14 106657975C> T null G E 35 35 missense 0.63 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1226637700 14q32.33 14 106657976C> G null G R 35 35 missense 0.704 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1226637700 14q32.33 14 106657976C> A null G W 35 35 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782734101 14q32.33 14 106657972C> G null G A 36 36 missense 0.316 benign 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782013243 14q32.33 14 106657973C> T null G R 36 36 missense 0.414 benign 0.06 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed rs781914164 14q32.33 14 106657970A> G null S P 37 37 missense 0.486 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed rs781914164 14q32.33 14 106657970A> T null S T 37 37 missense 0.541 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567244 14q32.33 14 106657963C> A null R I 39 39 missense 0.926 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC rs532160231 14q32.33 14 106657961G> C null L V 40 40 2.0E-4 missense 0.878 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567241 14q32.33 14 106657954C> A null C F 42 42 missense 0.486 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782029191 14q32.33 14 106657955A> G null C R 42 42 missense 0.971 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567241 14q32.33 14 106657954C> T null C Y 42 42 missense 0.486 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs113324720 14q32.33 14 106657952C> A null A S 43 43 missense 0.109 benign 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567237 14q32.33 14 106657945G> C null S C 45 45 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782599713 14q32.33 14 106657942C> G null G A 46 46 missense 0.737 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs564281027 14q32.33 14 106657943C> T null G R 46 46 2.0E-4 missense 0.866 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed rs1427349190 14q32.33 14 106657937T> C null T A 48 48 missense 0.165 benign 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1194522124 14q32.33 14 106657936G> A null T I 48 48 missense 0.85 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1194522124 14q32.33 14 106657936G> C null T S 48 48 missense 0.174 benign 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes rs552249239 14q32.33 14 106657933A> C null F C 49 49 2.0E-4 missense 0.409 benign 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782196521 14q32.33 14 106657930C> T null S N 50 50 missense 0.076 benign 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782564434 14q32.33 14 106657929A> T null S R 50 50 missense 0.076 benign 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs530936540 14q32.33 14 106657928T> A null S C 51 51 2.0E-4 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs530936540 14q32.33 14 106657928T> C null S G 51 51 2.0E-4 missense 0.019 benign 0.08 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs563493217 14q32.33 14 106657927C> T null S N 51 51 2.0E-4 missense 0.007 benign 0.31 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs542523265 14q32.33 14 106657926G> C null S R 51 51 2.0E-4 missense 0.03 benign 0.06 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs563493217 14q32.33 14 106657927C> G null S T 51 51 2.0E-4 missense 0.013 benign 0.07 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782058380 14q32.33 14 106657924T> C null Y C 52 52 missense 0.871 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC rs782705314 14q32.33 14 106657925A> T null Y N 52 52 missense 0.061 benign 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782058380 14q32.33 14 106657924T> G null Y S 52 52 missense 0.065 benign 0.05 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782796680 14q32.33 14 106657921G> C null A G 53 53 missense 0.003 benign 0.41 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782010737 14q32.33 14 106657922C> T null A T 53 53 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782796680 14q32.33 14 106657921G> A null A V 53 53 missense 0.005 benign 0.41 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567193 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q32.33 14 106657917C> T null M I 54 54 missense 0.168 benign 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs560064156 14q32.33 14 106657918A> G null M T 54 54 2.0E-4 missense 0.348 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs575002019 14q32.33 14 106657919T> C null M V 54 54 2.0E-4 missense 0.259 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs541688644 14q32.33 14 106657916G> T null H N 55 55 2.0E-4 missense 0.0 benign 0.53 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1384369301 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q32.33 14 106657915T> G null H P 55 55 missense 0.22 benign 0.14 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782228421 14q32.33 14 106657914G> T null H Q 55 55 missense 0.013 benign 0.31 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs541688644 14q32.33 14 106657916G> A null H Y 55 55 2.0E-4 missense 0.003 benign 0.35 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs781936061 14q32.33 14 106657912C> T null W * 56 56 stop gained 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs781936061 14q32.33 14 106657912C> A null W L 56 56 missense 0.956 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567186 14q32.33 14 106657909A> G null V A 57 57 missense 0.165 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782421707 14q32.33 14 106657910C> A null V F 57 57 missense 0.231 benign 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1382787159 14q32.33 14 106657907G> A null R C 58 58 missense 0.246 benign 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1382787159 14q32.33 14 106657907G> C null R G 58 58 missense 0.331 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782290644 14q32.33 14 106657906C> T null R H 58 58 missense 0.246 benign 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567175 14q32.33 14 106657904G> A null Q * 59 59 stop gained 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed rs1231281538 14q32.33 14 106657902C> G null Q H 59 59 missense 0.991 probably damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed rs1292417235 14q32.33 14 106657898G> C null P A 61 61 missense 0.837 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 Ensembl rs1567722184 14q32.33 14 106657897G> A null P L 61 61 missense 0.292 benign 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567173 14q32.33 14 106657892T> C null K E 63 63 missense 0.93 probably damaging 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed rs1335180892 14q32.33 14 106657890C> G null K N 63 63 missense 0.414 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782519688 14q32.33 14 106657891T> C null K R 63 63 missense 0.316 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782223561 14q32.33 14 106657889C> T null G R 64 64 missense 0.728 possibly damaging 0.08 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,TOPMed,gnomAD rs138428007 14q32.33 14 106657886G> T null L M 65 65 9.98E-4 missense 0.971 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567166 14q32.33 14 106657885A> G null L P 65 65 missense 0.404 benign 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,TOPMed,gnomAD rs138428007 14q32.33 14 106657886G> C null L V 65 65 9.98E-4 missense 0.404 benign 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC rs781803632 14q32.33 14 106657883C> G null E Q 66 66 missense 0.446 possibly damaging 0.15 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs781846893 14q32.33 14 106657878A> T null Y * 67 67 stop gained 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs781846893 14q32.33 14 106657878A> C null Y * 67 67 stop gained 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567158 14q32.33 14 106657879T> C null Y C 67 67 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782782477 14q32.33 14 106657880A> T null Y N 67 67 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs554240878 14q32.33 14 106657870G> C null A G 70 70 3.99E-4 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs576004807 14q32.33 14 106657871C> G null A P 70 70 3.99E-4 missense 0.013 benign 0.2 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs576004807 14q32.33 14 106657871C> T null A T 70 70 3.99E-4 missense 0.003 benign 0.39 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs554240878 14q32.33 14 106657870G> A null A V 70 70 3.99E-4 missense 0.003 benign 0.5 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs536222554 14q32.33 14 106657868T> G null I L 71 71 2.0E-4 missense 0.165 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ESP,ExAC,TOPMed,gnomAD rs372874406 14q32.33 14 106657867A> G null I T 71 71 missense 0.255 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567131 14q32.33 14 106657864C> T null S N 72 72 missense 0.007 benign 0.68 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs565672150 14q32.33 14 106657862T> C null S G 73 73 2.0E-4 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,gnomAD rs190575084 14q32.33 14 106657861C> T null S N 73 73 2.0E-4 missense 0.003 benign 0.41 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782370331 14q32.33 14 106657859T> A null N Y 74 74 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782402334 14q32.33 14 106657855C> T null G E 75 75 missense 0.85 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782402334 14q32.33 14 106657855C> A null G V 75 75 missense 0.77 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,NCI-TCGA rs782637218 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q32.33 14 106657852C> T null G D 76 76 missense 0.028 benign 0.08 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC rs782637218 14q32.33 14 106657852C> A null G V 76 76 missense 0.045 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs111637096 14q32.33 14 106657839A> T null Y * 80 80 stop gained 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567113 14q32.33 14 106657841A> C null Y D 80 80 missense 0.619 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs781893037 14q32.33 14 106657837G> C null A G 81 81 missense 0.048 benign 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2072045 14q32.33 14 106657835C> T null D N 82 82 0.4261 missense 0.119 benign 0.11 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs781926531 14q32.33 14 106657829C> G null V L 84 84 missense 0.213 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs781926531 14q32.33 14 106657829C> T null V M 84 84 missense 0.648 possibly damaging 0.06 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782328399 14q32.33 14 106657825T> C null K R 85 85 missense 0.423 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782029726 14q32.33 14 106657822C> G null G A 86 86 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782029726 14q32.33 14 106657822C> T null G D 86 86 missense 0.805 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782029726 14q32.33 14 106657822C> A null G V 86 86 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782257914 14q32.33 14 106657820T> A null R * 87 87 stop gained 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed rs782591733 14q32.33 14 106657814T> C null T A 89 89 missense 0.316 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782354616 14q32.33 14 106657813G> A null T I 89 89 missense 0.414 benign 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed rs782591733 14q32.33 14 106657814T> A null T S 89 89 missense 0.446 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes rs530872446 14q32.33 14 106657807G> A null S F 91 91 2.0E-4 missense 0.728 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs563720307 14q32.33 14 106657804C> T null R K 92 92 2.0E-4 missense 0.165 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782554378 14q32.33 14 106657799T> C null N D 94 94 missense 0.433 benign 0.1 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs781859933 14q32.33 14 106657795G> C null S C 95 95 missense 0.761 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567058 14q32.33 14 106657796A> G null S P 95 95 missense 0.03 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782654913 14q32.33 14 106657793T> G null K Q 96 96 missense 0.689 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782471943 14q32.33 14 106657786G> A null T M 98 98 missense 0.09 benign 0.19 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1229815911 14q32.33 14 106657784G> C null L V 99 99 missense 0.318 benign 0.07 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC rs781891859 14q32.33 14 106657780T> A null Y F 100 100 missense 0.165 benign 0.03 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567042 14q32.33 14 106657777A> G null L P 101 101 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143190732 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 14q32.33 14 106657775G> A null Q * 102 102 9.98E-4 stop gained 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs781999605 14q32.33 14 106657770C> A null M I 103 103 missense 0.308 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567040 14q32.33 14 106657772T> A null M L 103 103 missense 0.308 benign 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782110096 14q32.33 14 106657771A> G null M T 103 103 missense 0.947 probably damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,TOPMed,gnomAD rs782096889 14q32.33 14 106657768C> G null G A 104 104 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,NCI-TCGA,TOPMed,gnomAD rs782096889 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q32.33 14 106657768C> T null G D 104 104 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs201264785 14q32.33 14 106657769C> T null G S 104 104 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 Ensembl rs782745335 14q32.33 14 106657759C> T null R K 107 107 missense 0.047 benign 0.36 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1484378146 14q32.33 14 106657757C> T null A T 108 108 missense 0.026 benign 0.38 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,gnomAD rs187347757 14q32.33 14 106657754C> G null E Q 109 109 2.0E-4 missense 0.463 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed,gnomAD rs1258754721 14q32.33 14 106657746C> G null M I 111 111 missense 0.063 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,TOPMed,gnomAD rs377318229 14q32.33 14 106657747A> G null M T 111 111 0.007987 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 1000Genomes,ExAC,NCI-TCGA,gnomAD rs532764988 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q32.33 14 106657745C> T null A T 112 112 5.99E-4 missense 0.669 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782216027 14q32.33 14 106657744G> A null A V 112 112 missense 0.433 benign 0.02 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 TOPMed rs1175836198 14q32.33 14 106657741A> G null V A 113 113 missense 0.061 benign 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782442541 14q32.33 14 106657738T> C null Y C 114 114 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555567011 14q32.33 14 106657733A> T null C S 116 116 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782199188 14q32.33 14 106657731A> C null C W 116 116 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs782680870 14q32.33 14 106657729G> A null A V 117 117 missense 0.07 benign 0.06 tolerated - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 gnomAD rs1555566998 14q32.33 14 106657727T> C null R G 118 118 missense 0.85 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q5 IGHV3-64 Immunoglobulin heavy variable 3-64 ExAC,gnomAD rs781846629 14q32.33 14 106657726C> T null R K 118 118 missense 0.046 benign 0.21 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1286754473 Xp11.22 X 50198737C> A null D Y 6 6 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374162444 Xp11.22 X 50198728G> A null R C 9 9 missense 0.353 benign 0.0 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,NCI-TCGA,gnomAD rs782787477 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50198727C> T null R H 9 9 missense 0.0 benign 1.0 tolerated 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782078614 Xp11.22 X 50198718C> T null R K 12 12 missense 0.956 probably damaging 0.21 tolerated 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs781879602 Xp11.22 X 50198716C> A null G C 13 13 missense 0.754 possibly damaging 0.0 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782703558 Xp11.22 X 50198715C> A null G V 13 13 missense 0.448 possibly damaging 0.02 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,gnomAD rs782760962 Xp11.22 X 50198703A> G null V A 17 17 2.65E-4 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782424670 Xp11.22 X 50198701C> T null D N 18 18 missense 0.994 probably damaging 0.1 tolerated 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs1569541827 Xp11.22 X 50198695A> T null Y N 20 20 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782114976 Xp11.22 X 50198689G> C null P A 22 22 missense 0.283 benign 0.0 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs200664210 Xp11.22 X 50198688G> A null P L 22 22 missense 0.563 possibly damaging 0.0 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782347135 Xp11.22 X 50198675T> G null Q H 26 26 missense 0.841 possibly damaging 0.05 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs782079722 Xp11.22 X 50198664C> T null R Q 30 30 2.65E-4 missense 0.022 benign 0.22 tolerated 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204598 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50198665G> A null R W 30 30 missense 0.828 possibly damaging 0.06 tolerated 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782258701 Xp11.22 X 50197584A> G null V A 36 36 missense 0.952 probably damaging 0.08 tolerated 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782368036 Xp11.22 X 50197585C> G null V L 36 36 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs149949899 Xp11.22 X 50197578A> G null V A 38 38 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs149949899 Xp11.22 X 50197578A> C null V G 38 38 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1426686733 Xp11.22 X 50197572G> T null T N 40 40 missense 0.637 possibly damaging 0.05 tolerated 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC rs782588282 Xp11.22 X 50197566T> C null N S 42 42 missense 0.003 benign 0.19 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,NCI-TCGA,gnomAD rs782539418 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50197555T> C null K E 46 46 missense 0.968 probably damaging 0.04 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782299463 Xp11.22 X 50197550A> C null D E 47 47 missense 0.834 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782299463 Xp11.22 X 50197550A> T null D E 47 47 missense 0.834 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782633905 Xp11.22 X 50197546T> C null K E 49 49 missense 0.968 probably damaging 0.09 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782037617 Xp11.22 X 50196992C> T null D N 50 50 missense 0.014 benign 0.31 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204430 Xp11.22 X 50196991T> A null D V 50 50 missense 0.278 benign 0.08 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782376800 Xp11.22 X 50196989C> A null A S 51 51 missense 0.039 benign 0.03 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782376800 Xp11.22 X 50196989C> T null A T 51 51 missense 0.006 benign 0.08 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782273178 Xp11.22 X 50196988G> A null A V 51 51 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204427 Xp11.22 X 50196979G> T null S Y 54 54 missense 0.462 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs139319738 Xp11.22 X 50196977T> A null S C 55 55 missense 0.001 benign 0.07 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782502960 Xp11.22 X 50196967C> T null G D 58 58 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782669322 Xp11.22 X 50196948A> T null S R 64 64 missense 0.025 benign 0.05 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,gnomAD rs190421799 Xp11.22 X 50196940T> C null E G 67 67 2.65E-4 missense 0.187 benign 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs146253420 Xp11.22 X 50196932T> A null I F 70 70 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs782456419 Xp11.22 X 50196926C> T null V M 72 72 7.95E-4 missense 0.043 benign 0.03 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,NCI-TCGA,gnomAD rs781841685 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp11.22 X 50196906C> A null K N 78 78 missense 0.986 probably damaging 0.09 tolerated - low confidence 1 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes rs200799849 Xp11.22 X 50196904T> A null K I 79 79 2.65E-4 missense 0.012 benign 0.04 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141721177 Xp11.22 X 50194433C> G null E Q 85 85 missense 0.986 probably damaging 0.03 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1480721983 Xp11.22 X 50194424C> G null V L 88 88 missense 0.455 possibly damaging 0.02 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1178437480 Xp11.22 X 50194419G> T null C * 89 89 stop gained 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204158 Xp11.22 X 50194420C> T null C Y 89 89 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373613057 Xp11.22 X 50194411T> C null K R 92 92 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204157 Xp11.22 X 50194406C> T null A T 94 94 missense 0.003 benign 0.28 tolerated 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204156 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50194399G> A null S F 96 96 missense 0.007 benign 0.04 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC rs781925771 Xp11.22 X 50194393G> A null P L 98 98 missense 0.108 benign 0.01 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139891326 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50194394G> A null P S 98 98 missense 0.08 benign 0.04 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204153 Xp11.22 X 50194379T> A null N Y 103 103 missense 0.001 benign 0.03 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC rs782396979 Xp11.22 X 50194374C> G null W C 104 104 missense 0.012 benign 0.03 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782284364 Xp11.22 X 50194367T> G null S R 107 107 missense 0.038 benign 0.06 tolerated 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1431213419 Xp11.22 X 50194349C> A null A S 113 113 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204147 Xp11.22 X 50194346A> C null L V 114 114 missense 0.981 probably damaging 0.19 tolerated 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204146 Xp11.22 X 50194334G> A null H Y 118 118 missense 0.375 benign 0.04 deleterious 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782617887 Xp11.22 X 50194315G> A null T I 124 124 missense 0.017 benign 0.06 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed rs782214189 Xp11.22 X 50194316T> G null T P 124 124 missense 0.068 benign 0.09 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1444545985 Xp11.22 X 50194299A> T null H Q 129 129 missense 0.583 possibly damaging 0.18 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782433515 Xp11.22 X 50194294A> G null V A 131 131 missense 0.952 probably damaging 0.09 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs781803764 Xp11.22 X 50194291C> T null G E 132 132 missense 0.166 benign 0.05 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204137 Xp11.22 X 50194288T> A null D V 133 133 missense 0.741 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204135 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50194277C> T null E K 137 137 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1039253333 Xp11.22 X 50194273T> C null Y C 138 138 missense 0.003 benign 0.23 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782678573 Xp11.22 X 50194274A> G null Y H 138 138 missense 0.005 benign 0.39 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782546102 Xp11.22 X 50194264G> C null A G 141 141 missense 0.054 benign 0.32 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204134 Xp11.22 X 50194261_50194262insCAGT C null S * 142 142 stop gained 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1387903217 Xp11.22 X 50194262A> G null S P 142 142 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs377151498 Xp11.22 X 50194258G> T null S Y 143 143 missense 0.007 benign 0.08 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204131 Xp11.22 X 50194248G> T null C * 146 146 stop gained 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204129 Xp11.22 X 50194244T> C null S G 148 148 missense 0.303 benign 0.01 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs1569541779 Xp11.22 X 50194241C> A null V F 149 149 missense 0.533 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147502980 Xp11.22 X 50194232C> T null D N 152 152 0.001589 missense 0.02 benign 0.14 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782092542 Xp11.22 X 50194229G> C null Q E 153 153 missense 0.001 benign 0.18 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1259032242 Xp11.22 X 50194225A> T null V E 154 154 missense 0.693 possibly damaging 0.09 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs112877454 Xp11.22 X 50194216T> C null D G 157 157 missense 0.952 probably damaging 0.02 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782705223 Xp11.22 X 50194196G> T null Q K 164 164 missense 0.131 benign 0.16 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs1051466826 Xp11.22 X 50194190G> C null L V 166 166 missense 0.324 benign 0.03 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs782072348 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50194187G> A null R C 167 167 missense 0.003 benign 0.08 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201625510 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:452 Xp11.22 X 50194186C> T null R H 167 167 2.65E-4 missense 0.001 benign 0.78 tolerated - low confidence 1 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs199717347 Xp11.22 X 50194169C> T null A T 173 173 2.65E-4 missense 0.391 benign 0.06 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs781947711 Xp11.22 X 50194166T> C null K E 174 174 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs144059937 Xp11.22 X 50194163T> C null N D 175 175 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1270988082 Xp11.22 X 50194160T> C null T A 176 176 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782672648 Xp11.22 X 50193019G> A null T I 182 182 missense 0.017 benign 0.55 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ESP rs373820674 Xp11.22 X 50193017A> G null C R 183 183 missense 0.086 benign 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1319968066 Xp11.22 X 50193008C> T null D N 186 186 missense 0.587 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782551339 Xp11.22 X 50193005A> T null C S 187 187 missense 0.046 benign 0.64 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557203888 Xp11.22 X 50193002G> A null P S 188 188 missense 0.137 benign 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782248153 Xp11.22 X 50192998C> G null G A 189 189 missense 0.07 benign 0.04 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557203887 Xp11.22 X 50192987C> A null G C 193 193 missense 0.983 probably damaging 0.01 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs1569541742 Xp11.22 X 50192983T> C null Y C 194 194 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1227929014 Xp11.22 X 50192972T> A null S C 198 198 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557203879 Xp11.22 X 50192971C> T null S N 198 198 missense 0.819 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557203878 Xp11.22 X 50192969T> C null T A 199 199 missense 0.033 benign 1.0 tolerated - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557203876 Xp11.22 X 50192956T> C null K R 203 203 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs781839360 Xp11.22 X 50192950C> T null G E 205 205 missense 0.851 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557203875 Xp11.22 X 50192951C> T null G R 205 205 missense 0.83 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1291716548 Xp11.22 X 50192939T> C null S G 209 209 missense 0.608 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6Q6 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1486445723 Xp11.22 X 50192935G> A null A V 210 210 missense 0.633 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ExAC,TOPMed,gnomAD rs566882501 7p14.1 7 38363324T> C null Q R 2 2 5.99E-4 missense 0.0 benign 0.6 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs766785840 7p14.1 7 38363320C> T null W * 3 3 stop gained 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs1252366308 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 38363315A> G null L P 5 5 missense 0.037 benign 0.2 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs372106990 7p14.1 7 38363312G> C null A G 6 6 missense 0.605 possibly damaging 0.11 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs372106990 7p14.1 7 38363312G> A null A V 6 6 missense 0.031 benign 0.24 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs769527669 7p14.1 7 38363307G> A null L F 8 8 missense 0.967 probably damaging 0.01 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs1170994631 7p14.1 7 38363300G> C null A G 10 10 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed,gnomAD rs1352235665 7p14.1 7 38363297A> G null F S 11 11 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1209461570 7p14.1 7 38363288G> A null P L 14 14 missense 0.258 benign 0.22 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs772042000 7p14.1 7 38363174G> C null A G 15 15 missense 0.084 benign 0.65 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs770634214 7p14.1 7 38363286C> G null A P 15 15 missense 0.977 probably damaging 0.04 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs770634214 7p14.1 7 38363286C> T null A T 15 15 missense 0.911 probably damaging 0.13 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1271361727 7p14.1 7 38363168T> A null Q L 17 17 missense 0.664 possibly damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148853206 7p14.1 7 38363162G> A null S F 19 19 0.00599 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed rs755021917 7p14.1 7 38363155G> C null N K 21 21 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs779119706 7p14.1 7 38363156T> C null N S 21 21 missense 0.599 possibly damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs779119706 7p14.1 7 38363156T> G null N T 21 21 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs780164442 7p14.1 7 38363151C> T null E K 23 23 missense 0.604 possibly damaging 0.17 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1347877331 7p14.1 7 38363148C> A null G W 24 24 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ExAC,TOPMed,gnomAD rs574364770 7p14.1 7 38363144C> A null R I 25 25 2.0E-4 missense 0.052 benign 0.19 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ExAC,TOPMed,gnomAD rs574364770 7p14.1 7 38363144C> T null R K 25 25 2.0E-4 missense 0.013 benign 0.91 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ExAC,TOPMed,gnomAD rs574364770 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 38363144C> G null R T 25 25 2.0E-4 missense 0.041 benign 0.73 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs757905457 7p14.1 7 38363142T> C null T A 26 26 missense 0.069 benign 0.37 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147785880 7p14.1 7 38363141G> A null T M 26 26 0.00599 missense 0.014 benign 0.23 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147785880 7p14.1 7 38363141G> C null T R 26 26 0.00599 missense 0.01 benign 0.74 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed,gnomAD rs1254224912 7p14.1 7 38363138T> G null K T 27 27 missense 0.047 benign 0.41 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1487743118 7p14.1 7 38363135G> T null S * 28 28 stop gained 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs373370359 7p14.1 7 38363133C> T null V I 29 29 missense 0.034 benign 0.4 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs373370359 7p14.1 7 38363133C> G null V L 29 29 missense 0.034 benign 0.04 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs368882387 7p14.1 7 38363129A> G null I T 30 30 missense 0.0 benign 1.0 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1364709958 7p14.1 7 38363127T> C null R G 31 31 missense 0.02 benign 0.17 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1307657183 7p14.1 7 38363126C> A null R M 31 31 missense 0.311 benign 0.01 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed rs760436880 7p14.1 7 38363124G> A null Q * 32 32 stop gained 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs377341546 7p14.1 7 38363123T> A null Q L 32 32 missense 0.003 benign 0.21 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs377341546 7p14.1 7 38363123T> G null Q P 32 32 missense 0.001 benign 0.82 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,gnomAD rs373945255 7p14.1 7 38363121T> C null T A 33 33 2.0E-4 missense 0.039 benign 0.34 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,gnomAD rs373945255 7p14.1 7 38363121T> G null T P 33 33 2.0E-4 missense 0.023 benign 0.11 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,gnomAD rs373945255 7p14.1 7 38363121T> A null T S 33 33 2.0E-4 missense 0.158 benign 0.02 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs749359648 7p14.1 7 38363117C> G null G A 34 34 missense 0.723 possibly damaging 0.01 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs774171212 7p14.1 7 38363118C> T null G R 34 34 missense 0.635 possibly damaging 0.01 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs774171212 7p14.1 7 38363118C> G null G R 34 34 missense 0.635 possibly damaging 0.01 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs749359648 7p14.1 7 38363117C> A null G V 34 34 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,TOPMed,gnomAD rs369753426 7p14.1 7 38363111G> A null S F 36 36 missense 0.704 possibly damaging 0.22 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs1335160453 7p14.1 7 38363108G> A null A V 37 37 missense 0.058 benign 0.93 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs780294300 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 38363106C> T null E K 38 38 missense 0.108 benign 0.2 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed rs781634837 7p14.1 7 38363095A> T null C * 41 41 stop gained 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC rs746221773 7p14.1 7 38363096C> G null C S 41 41 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ExAC,TOPMed,gnomAD rs559166512 7p14.1 7 38363092A> T null D E 42 42 2.0E-4 missense 0.962 probably damaging 0.06 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1191847141 7p14.1 7 38363094C> G null D H 42 42 missense 0.664 possibly damaging 0.01 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144873835 7p14.1 7 38363091G> A null L F 43 43 0.004593 missense 0.031 benign 0.1 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs778172896 7p14.1 7 38363088C> A null A S 44 44 missense 0.003 benign 0.78 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs778172896 7p14.1 7 38363088C> T null A T 44 44 missense 0.0 benign 0.79 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369326514 7p14.1 7 38363084T> G null E A 45 45 2.0E-4 missense 0.009 benign 0.75 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1429246808 7p14.1 7 38363083T> G null E D 45 45 missense 0.001 benign 0.61 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed,gnomAD rs1261118305 7p14.1 7 38363081C> G null G A 46 46 missense 0.001 benign 0.74 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed,gnomAD rs1261118305 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 38363081C> T null G E 46 46 missense 0.003 benign 1.0 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs61734945 7p14.1 7 38363082C> T null G R 46 46 missense 0.003 benign 0.52 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs766037524 7p14.1 7 38363079T> C null S G 47 47 missense 0.013 benign 0.06 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs760383869 7p14.1 7 38363077A> C null S R 47 47 missense 0.087 benign 0.16 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs766037524 7p14.1 7 38363079T> G null S R 47 47 missense 0.087 benign 0.16 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs767247019 7p14.1 7 38363076T> C null N D 48 48 missense 0.001 benign 0.54 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs774308921 7p14.1 7 38363074G> C null N K 48 48 missense 0.007 benign 0.81 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369731405 7p14.1 7 38363075T> G null N T 48 48 0.001997 missense 0.0 benign 1.0 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs767247019 7p14.1 7 38363076T> A null N Y 48 48 missense 0.145 benign 0.03 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs371530931 7p14.1 7 38363073C> A null G C 49 49 missense 0.761 possibly damaging 0.06 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs763068254 7p14.1 7 38363072C> T null G D 49 49 missense 0.012 benign 0.62 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs371530931 7p14.1 7 38363073C> T null G S 49 49 missense 0.006 benign 0.73 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs769998195 7p14.1 7 38363068G> T null Y * 50 50 stop gained 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ExAC,gnomAD rs536298620 7p14.1 7 38363069T> C null Y C 50 50 0.001198 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs781585274 7p14.1 7 38363066A> T null I N 51 51 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs367738589 7p14.1 7 38363067T> C null I V 51 51 missense 0.084 benign 0.27 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC rs747369944 7p14.1 7 38363063T> G null H P 52 52 missense 0.823 possibly damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC rs758883016 7p14.1 7 38363062G> T null H Q 52 52 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 Ensembl rs1562708065 7p14.1 7 38363061A> C null W G 53 53 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC rs753380986 7p14.1 7 38363058A> C null Y D 54 54 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs992082852 7p14.1 7 38363057T> G null Y S 54 54 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs1224755902 7p14.1 7 38363047C> G null Q H 57 57 missense 0.278 benign 0.04 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,TOPMed,gnomAD rs567630747 7p14.1 7 38363049G> T null Q K 57 57 2.0E-4 missense 0.331 benign 0.02 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs373562289 7p14.1 7 38363043C> T null G R 59 59 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs1251690628 7p14.1 7 38363036G> C null A G 61 61 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs1200853760 7p14.1 7 38363037C> T null A T 61 61 missense 0.833 possibly damaging 0.02 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed,gnomAD rs1376149624 7p14.1 7 38363031G> A null Q * 63 63 stop gained 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed,gnomAD rs1376149624 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 38363031G> C null Q E 63 63 missense 0.212 benign 0.07 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1314764963 7p14.1 7 38363030T> C null Q R 63 63 missense 0.084 benign 0.58 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140914279 7p14.1 7 38363028G> A null R C 64 64 7.99E-4 missense 0.259 benign 0.02 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140914279 7p14.1 7 38363028G> C null R G 64 64 7.99E-4 missense 0.884 possibly damaging 0.01 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs368630975 7p14.1 7 38363027C> T null R H 64 64 missense 0.141 benign 0.17 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ExAC,TOPMed,gnomAD rs562361674 7p14.1 7 38363025G> A null L F 65 65 3.99E-4 missense 0.727 possibly damaging 0.06 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs775509096 7p14.1 7 38363022G> A null Q * 66 66 stop gained 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs765357801 7p14.1 7 38363021T> A null Q L 66 66 missense 0.0 benign 1.0 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs759720051 7p14.1 7 38363015T> C null Y C 68 68 missense 0.64 possibly damaging 0.06 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs747381690 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 38363003T> G null N T 72 72 missense 0.0 benign 0.73 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs867129016 7p14.1 7 38363000G> A null S F 73 73 missense 0.103 benign 0.02 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs3956757 7p14.1 7 38362996C> G null K N 74 74 missense 0.041 benign 0.08 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs3956758 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 38362997T> C null K R 74 74 missense 0.003 benign 0.38 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1228029479 7p14.1 7 38362995C> A null V F 75 75 missense 0.031 benign 0.38 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1356280764 7p14.1 7 38362988A> C null L W 77 77 missense 0.182 benign 0.03 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ExAC,gnomAD rs180770785 7p14.1 7 38362977C> T null V I 81 81 missense 0.0 benign 1.0 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1290025603 7p14.1 7 38362973C> A null S I 82 82 missense 0.269 benign 0.05 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs2392565 7p14.1 7 38362972A> T null S R 82 82 missense 0.076 benign 0.1 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs755585121 7p14.1 7 38362974T> G null S R 82 82 missense 0.076 benign 0.1 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes rs188741084 7p14.1 7 38362970G> C null P R 83 83 2.0E-4 missense 0.009 benign 0.2 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs780801736 7p14.1 7 38362971G> A null P S 83 83 missense 0.003 benign 0.76 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1418178225 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 38362967C> T null G E 84 84 missense 0.046 benign 0.65 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs377624320 7p14.1 7 38362968C> T null G R 84 84 missense 0.167 benign 0.35 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs377624320 7p14.1 7 38362968C> G null G R 84 84 missense 0.167 benign 0.35 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs2893557 7p14.1 7 38362959A> C null Y D 87 87 missense 0.0 benign 0.44 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ESP,ExAC,TOPMed,gnomAD rs2893557 7p14.1 7 38362959A> G null Y H 87 87 missense 0.0 benign 1.0 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs765304878 7p14.1 7 38362955G> A null T I 88 88 missense 0.168 benign 0.02 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs760738265 7p14.1 7 38362949G> C null A G 90 90 missense 0.0 benign 0.38 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs766701116 7p14.1 7 38362950C> A null A S 90 90 missense 0.007 benign 0.48 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs766701116 7p14.1 7 38362950C> T null A T 90 90 missense 0.001 benign 0.42 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs773499435 7p14.1 7 38362946C> T null S N 91 91 missense 0.009 benign 0.34 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1261219731 7p14.1 7 38362944T> C null T A 92 92 missense 0.098 benign 0.1 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1242861675 7p14.1 7 38362943G> C null T R 92 92 missense 0.077 benign 0.1 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed,gnomAD rs1340012741 7p14.1 7 38362938T> C null N D 94 94 missense 0.029 benign 0.3 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed,gnomAD rs1340012741 7p14.1 7 38362938T> G null N H 94 94 missense 0.001 benign 0.16 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs2392564 7p14.1 7 38362936G> C null N K 94 94 missense 0.0 benign 1.0 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed,gnomAD rs1020313572 7p14.1 7 38362933G> T null N K 95 95 missense 0.076 benign 0.03 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs772279235 7p14.1 7 38362932A> T null L M 96 96 missense 0.627 possibly damaging 0.21 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs1451003976 7p14.1 7 38362931A> C null L W 96 96 missense 0.001 benign 0.2 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs2392563 7p14.1 7 38362926A> T null L M 98 98 missense 0.083 benign 0.08 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs769202052 7p14.1 7 38362925A> G null L S 98 98 missense 0.61 possibly damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ExAC,TOPMed,gnomAD rs532283999 7p14.1 7 38362922A> G null I T 99 99 2.0E-4 missense 0.076 benign 0.25 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1211471428 7p14.1 7 38362923T> C null I V 99 99 missense 0.003 benign 1.0 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs780748998 7p14.1 7 38362919A> G null L P 100 100 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs777510193 7p14.1 7 38362917G> A null R * 101 101 stop gained 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs777510193 7p14.1 7 38362917G> C null R G 101 101 missense 0.529 possibly damaging 0.13 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11770189 7p14.1 7 38362916C> T null R Q 101 101 0.1835 missense 0.015 benign 0.57 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs1315454939 7p14.1 7 38362913T> C null N S 102 102 missense 0.331 benign 0.11 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1246157698 7p14.1 7 38362914T> A null N Y 102 102 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs1286805766 7p14.1 7 38362907A> G null I T 104 104 missense 0.015 benign 0.18 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs752587214 7p14.1 7 38362908T> C null I V 104 104 missense 0.175 benign 0.09 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs778977133 7p14.1 7 38362905C> G null E Q 105 105 missense 0.804 possibly damaging 0.03 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs755028565 7p14.1 7 38362902T> G null N H 106 106 missense 0.022 benign 0.06 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1230760870 7p14.1 7 38362898T> G null D A 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1230760870 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 38362898T> C null D G 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs753828764 7p14.1 7 38362896A> G null F L 108 108 missense 0.0 benign 0.01 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs760834920 7p14.1 7 38362894A> C null F L 108 108 missense 0.0 benign 0.01 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2735118 7p14.1 7 38362895A> G null F S 108 108 0.2927 missense 0.0 benign 1.0 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,NCI-TCGA,gnomAD rs147335708 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7p14.1 7 38362890C> A null V F 110 110 2.0E-4 missense 0.421 benign 0.03 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 TOPMed rs1380346514 7p14.1 7 38362878C> A null A S 114 114 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 gnomAD rs1387768268 7p14.1 7 38362874G> A null T I 115 115 missense 0.012 benign 0.34 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,gnomAD rs763385622 7p14.1 7 38362872A> C null W G 116 116 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2392562 7p14.1 7 38362867G> C null D E 117 117 2.0E-4 missense 0.066 benign 0.73 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2392562 7p14.1 7 38362867G> T null D E 117 117 2.0E-4 missense 0.066 benign 0.73 tolerated 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs770305161 7p14.1 7 38362866C> T null G R 118 118 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B6R0 TRGV2 T cell receptor gamma variable 2 ExAC,TOPMed,gnomAD rs770305161 7p14.1 7 38362866C> G null G R 118 118 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421650 14q32.33 14 106012353T> C null K E 2 2 missense 0.017 benign 0.13 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421650 14q32.33 14 106012353T> G null K Q 2 2 missense 0.047 benign 0.14 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs566260110 14q32.33 14 106012352T> C null K R 2 2 2.0E-4 missense 0.011 benign 0.22 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782224209 14q32.33 14 106012349T> A null H L 3 3 missense 0.001 benign 0.66 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ESP,ExAC,TOPMed,gnomAD rs368146435 14q32.33 14 106012348G> C null H Q 3 3 missense 0.015 benign 0.29 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs538889589 14q32.33 14 106012342C> T null W * 5 5 2.0E-4 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs538889589 14q32.33 14 106012342C> G null W C 5 5 2.0E-4 missense 0.045 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421637 14q32.33 14 106012343C> A null W L 5 5 missense 0.243 benign 0.09 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421637 14q32.33 14 106012343C> G null W S 5 5 missense 0.028 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781883904 14q32.33 14 106012341A> T null F I 6 6 missense 0.187 benign 0.13 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782819013 14q32.33 14 106012339G> T null F L 6 6 missense 0.005 benign 0.88 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781883904 14q32.33 14 106012341A> G null F L 6 6 missense 0.005 benign 0.88 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421634 14q32.33 14 106012338A> G null F L 7 7 missense 0.017 benign 0.39 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs781873779 14q32.33 14 106012336G> C null F L 7 7 missense 0.017 benign 0.39 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782732046 14q32.33 14 106012335G> A null L F 8 8 missense 0.197 benign 0.04 deleterious - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421632 14q32.33 14 106012334A> C null L R 8 8 missense 0.943 probably damaging 0.01 deleterious - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed rs1159787654 14q32.33 14 106012331A> G null L P 9 9 missense 0.03 benign 0.02 deleterious - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs531993229 14q32.33 14 106012329G> C null L V 10 10 2.0E-4 missense 0.533 possibly damaging 0.07 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782038087 14q32.33 14 106012325A> G null V A 11 11 missense 0.076 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 Ensembl rs1567022717 14q32.33 14 106012326C> A null V L 11 11 missense 0.011 benign 0.57 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782388330 14q32.33 14 106012323C> T null A T 12 12 missense 0.013 benign 0.34 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782201181 14q32.33 14 106012322G> A null A V 12 12 missense 0.019 benign 0.06 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs567566208 14q32.33 14 106012319G> C null A G 13 13 2.0E-4 missense 0.07 benign 0.06 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC rs782308225 14q32.33 14 106012320C> T null A T 13 13 missense 0.109 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs567566208 14q32.33 14 106012319G> A null A V 13 13 2.0E-4 missense 0.07 benign 0.06 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782543865 14q32.33 14 106012317G> C null P A 14 14 missense 0.463 possibly damaging 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782543865 14q32.33 14 106012317G> A null P S 14 14 missense 0.463 possibly damaging 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed,gnomAD rs1445136927 14q32.33 14 106012228C> T null W * 16 16 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs549396458 14q32.33 14 106012227C> T null W * 16 16 2.0E-4 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs549396458 14q32.33 14 106012227C> A null W C 16 16 2.0E-4 missense 0.001 benign 0.18 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs549396458 14q32.33 14 106012227C> G null W C 16 16 2.0E-4 missense 0.001 benign 0.18 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782483692 14q32.33 14 106012311A> T null W R 16 16 missense 0.02 benign 0.14 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782483692 14q32.33 14 106012311A> G null W R 16 16 missense 0.02 benign 0.14 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed,gnomAD rs1445136927 14q32.33 14 106012228C> G null W S 16 16 missense 0.009 benign 0.55 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782558035 14q32.33 14 106012226C> T null V I 17 17 missense 0.139 benign 0.11 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782558035 14q32.33 14 106012226C> G null V L 17 17 missense 0.374 benign 0.0 deleterious - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,gnomAD rs534226242 14q32.33 14 106012223G> C null L V 18 18 3.99E-4 missense 0.529 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782707366 14q32.33 14 106012217G> A null Q * 20 20 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782782969 14q32.33 14 106012215C> A null Q H 20 20 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782782969 14q32.33 14 106012215C> G null Q H 20 20 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782108163 14q32.33 14 106012216T> A null Q L 20 20 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782108163 14q32.33 14 106012216T> C null Q R 20 20 missense 0.743 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs199529140 14q32.33 14 106012214C> A null V L 21 21 missense 0.088 benign 0.15 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs199529140 14q32.33 14 106012214C> G null V L 21 21 missense 0.088 benign 0.15 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782404783 14q32.33 14 106012211G> A null Q * 22 22 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782358890 14q32.33 14 106012209C> A null Q H 22 22 missense 0.375 benign 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782358890 14q32.33 14 106012209C> G null Q H 22 22 missense 0.375 benign 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782404783 14q32.33 14 106012211G> T null Q K 22 22 missense 0.282 benign 0.06 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782194557 14q32.33 14 106012210T> A null Q L 22 22 missense 0.918 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782194557 14q32.33 14 106012210T> C null Q R 22 22 missense 0.375 benign 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782509046 14q32.33 14 106012205G> C null Q E 24 24 missense 0.196 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782285706 14q32.33 14 106012203C> A null Q H 24 24 missense 0.461 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782509046 14q32.33 14 106012205G> T null Q K 24 24 missense 0.13 benign 0.14 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,gnomAD rs551905089 14q32.33 14 106012204T> G null Q P 24 24 2.0E-4 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,gnomAD rs551905089 14q32.33 14 106012204T> C null Q R 24 24 2.0E-4 missense 0.196 benign 0.05 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs533423493 14q32.33 14 106012201T> C null E G 25 25 2.0E-4 missense 0.35 benign 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421522 14q32.33 14 106012202C> T null E K 25 25 missense 0.483 possibly damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421522 14q32.33 14 106012202C> G null E Q 25 25 missense 0.483 possibly damaging 0.12 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs533423493 14q32.33 14 106012201T> A null E V 25 25 2.0E-4 missense 0.666 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs562555294 14q32.33 14 106012198G> C null S W 26 26 2.0E-4 missense 0.282 benign 0.07 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421517 14q32.33 14 106012195C> T null G D 27 27 missense 0.928 probably damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421510 14q32.33 14 106012192G> T null P Q 28 28 missense 0.543 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs200627710 14q32.33 14 106012193G> A null P S 28 28 missense 0.328 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs200627710 14q32.33 14 106012193G> T null P T 28 28 missense 0.328 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781806697 14q32.33 14 106012189C> T null G E 29 29 missense 0.35 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782147484 14q32.33 14 106012190C> G null G R 29 29 missense 0.534 possibly damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782147484 14q32.33 14 106012190C> T null G R 29 29 missense 0.534 possibly damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781806697 14q32.33 14 106012189C> A null G V 29 29 missense 0.588 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed,gnomAD rs1244424822 14q32.33 14 106012184C> A null V L 31 31 missense 0.248 benign 0.1 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed,gnomAD rs1244424822 14q32.33 14 106012184C> T null V M 31 31 missense 0.724 possibly damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781946944 14q32.33 14 106012181T> G null K Q 32 32 missense 0.593 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782387835 14q32.33 14 106012180T> C null K R 32 32 missense 0.194 benign 0.05 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782387835 14q32.33 14 106012180T> G null K T 32 32 missense 0.406 benign 0.05 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782112624 14q32.33 14 106012178G> A null P S 33 33 missense 0.709 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed,gnomAD rs1430292986 14q32.33 14 106012174G> A null S L 34 34 missense 0.282 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs201063945 14q32.33 14 106012175A> G null S P 34 34 0.122 missense 0.375 benign 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs76113280 14q32.33 14 106012171C> T null G E 35 35 0.3297 missense 0.0 benign 0.72 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs202003233 14q32.33 14 106012172C> G null G R 35 35 0.1957 missense 0.0 benign 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421490 14q32.33 14 106012169T> C null T A 36 36 missense 0.47 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC rs782638527 14q32.33 14 106012165A> G null L P 37 37 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421488 14q32.33 14 106012166G> C null L V 37 37 missense 0.796 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421482 14q32.33 14 106012163A> C null S A 38 38 missense 0.483 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC rs781890230 14q32.33 14 106012162G> T null S Y 38 38 missense 0.534 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421478 14q32.33 14 106012160G> A null L F 39 39 missense 0.953 probably damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC rs782595570 14q32.33 14 106012159A> T null L H 39 39 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781838346 14q32.33 14 106012156G> A null T I 40 40 missense 0.35 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421476 14q32.33 14 106012157T> A null T S 40 40 missense 0.483 possibly damaging 0.05 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781838346 14q32.33 14 106012156G> C null T S 40 40 missense 0.483 possibly damaging 0.05 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782807526 14q32.33 14 106012153C> G null C S 41 41 missense 0.938 probably damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782807526 14q32.33 14 106012153C> T null C Y 41 41 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs545510690 14q32.33 14 106012150G> T null A D 42 42 7.99E-4 missense 0.539 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs545510690 14q32.33 14 106012150G> C null A G 42 42 7.99E-4 missense 0.036 benign 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs78574933 14q32.33 14 106012151C> A null A S 42 42 0.2839 missense 0.011 benign 0.65 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs78574933 14q32.33 14 106012151C> T null A T 42 42 0.2839 missense 0.007 benign 1.0 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs556757517 14q32.33 14 106012148C> T null V I 43 43 2.0E-4 missense 0.48 possibly damaging 0.07 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs556757517 14q32.33 14 106012148C> G null V L 43 43 2.0E-4 missense 0.48 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421463 14q32.33 14 106012145A> T null S T 44 44 missense 0.093 benign 0.24 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421462 14q32.33 14 106012144G> T null S Y 44 44 missense 0.196 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs538466263 14q32.33 14 106012141C> G null G A 45 45 2.0E-4 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782023479 14q32.33 14 106012142C> A null G C 45 45 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs538466263 14q32.33 14 106012141C> T null G D 45 45 2.0E-4 missense 0.584 possibly damaging 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782023479 14q32.33 14 106012142C> T null G S 45 45 missense 0.709 possibly damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs201000519 14q32.33 14 106012138C> G null G A 46 46 missense 0.006 benign 0.45 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs202156379 14q32.33 14 106012139C> A null G C 46 46 missense 0.715 possibly damaging 0.15 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs201000519 14q32.33 14 106012138C> T null G D 46 46 missense 0.01 benign 0.23 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs202156379 14q32.33 14 106012139C> T null G S 46 46 missense 0.025 benign 0.34 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs201000519 14q32.33 14 106012138C> A null G V 46 46 missense 0.01 benign 0.46 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs574142573 14q32.33 14 106012135G> A null S F 47 47 2.0E-4 missense 0.534 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782710395 14q32.33 14 106012136A> G null S P 47 47 missense 0.35 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782710395 14q32.33 14 106012136A> T null S T 47 47 missense 0.588 possibly damaging 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs574142573 14q32.33 14 106012135G> T null S Y 47 47 2.0E-4 missense 0.654 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782778364 14q32.33 14 106012133T> A null I F 48 48 missense 0.196 benign 0.06 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782778364 14q32.33 14 106012133T> G null I L 48 48 missense 0.13 benign 0.25 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782036507 14q32.33 14 106012132A> C null I S 48 48 missense 0.474 possibly damaging 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782036507 14q32.33 14 106012132A> G null I T 48 48 missense 0.392 benign 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782778364 14q32.33 14 106012133T> C null I V 48 48 missense 0.056 benign 0.22 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs781921468 14q32.33 14 106012128G> T null S R 49 49 missense 0.03 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs781921468 14q32.33 14 106012128G> C null S R 49 49 missense 0.03 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 Ensembl rs1567021908 14q32.33 14 106012129C> G null S T 49 49 missense 0.003 benign 1.0 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs556139347 14q32.33 14 106012126C> T null S N 50 50 2.0E-4 missense 0.022 benign 0.05 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed rs200084178 14q32.33 14 106012125A> C null S R 50 50 missense 0.035 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421441 14q32.33 14 106012127T> G null S R 50 50 missense 0.035 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs556139347 14q32.33 14 106012126C> G null S T 50 50 2.0E-4 missense 0.007 benign 0.44 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs202083055 14q32.33 14 106012124T> A null S C 51 51 missense 0.012 benign 0.1 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs202083055 14q32.33 14 106012124T> C null S G 51 51 missense 0.0 benign 0.55 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782174091 14q32.33 14 106012123C> A null S I 51 51 missense 0.021 benign 0.13 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782174091 14q32.33 14 106012123C> T null S N 51 51 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421417 14q32.33 14 106012122A> T null S R 51 51 missense 0.012 benign 0.13 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs202083055 14q32.33 14 106012124T> G null S R 51 51 missense 0.012 benign 0.13 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782174091 14q32.33 14 106012123C> G null S T 51 51 missense 0.013 benign 0.18 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed rs534445404 14q32.33 14 106012121T> C null N D 52 52 0.1262 missense 0.001 benign 0.21 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed rs534445404 14q32.33 14 106012121T> G null N H 52 52 0.1262 missense 0.001 benign 0.53 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs566879369 14q32.33 14 106012120T> A null N I 52 52 3.99E-4 missense 0.046 benign 0.38 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs781806826 14q32.33 14 106012119G> C null N K 52 52 missense 0.075 benign 0.28 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs566879369 14q32.33 14 106012120T> C null N S 52 52 3.99E-4 missense 0.003 benign 0.4 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs566879369 14q32.33 14 106012120T> G null N T 52 52 3.99E-4 missense 0.048 benign 0.38 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed rs534445404 14q32.33 14 106012121T> A null N Y 52 52 0.1262 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs569369588 14q32.33 14 106012116C> T null W * 53 53 0.126 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs539822603 14q32.33 14 106012117C> T null W * 53 53 0.126 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs569369588 14q32.33 14 106012116C> G null W C 53 53 0.126 missense 0.003 benign 0.09 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs569369588 14q32.33 14 106012116C> A null W C 53 53 0.126 missense 0.003 benign 0.09 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs551763470 14q32.33 14 106012118A> C null W G 53 53 3.99E-4 missense 0.0 benign 0.08 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs539822603 14q32.33 14 106012117C> A null W L 53 53 0.126 missense 0.003 benign 0.05 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs551763470 14q32.33 14 106012118A> G null W R 53 53 3.99E-4 missense 0.003 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs551763470 14q32.33 14 106012118A> T null W R 53 53 3.99E-4 missense 0.003 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs539822603 14q32.33 14 106012117C> G null W S 53 53 0.126 missense 0.001 benign 0.05 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs781910959 14q32.33 14 106012113C> T null W * 54 54 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs781910959 14q32.33 14 106012113C> G null W C 54 54 missense 0.922 probably damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421394 14q32.33 14 106012115A> G null W R 54 54 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782353482 14q32.33 14 106012112T> C null S G 55 55 missense 0.0 benign 0.26 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs550789676 14q32.33 14 106012111C> A null S I 55 55 5.99E-4 missense 0.035 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs550789676 14q32.33 14 106012111C> T null S N 55 55 5.99E-4 missense 0.009 benign 0.5 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77902266 14q32.33 14 106012110A> T null S R 55 55 0.1336 missense 0.035 benign 0.07 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs550789676 14q32.33 14 106012111C> G null S T 55 55 5.99E-4 missense 0.038 benign 0.17 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782578652 14q32.33 14 106012107C> T null W * 56 56 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782578652 14q32.33 14 106012107C> G null W C 56 56 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421390 14q32.33 14 106012108C> G null W S 56 56 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs561686348 14q32.33 14 106012106C> T null V I 57 57 0.1342 missense 0.0 benign 1.0 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs561686348 14q32.33 14 106012106C> G null V L 57 57 0.1342 missense 0.003 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421387 14q32.33 14 106012103G> A null R C 58 58 missense 0.375 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421385 14q32.33 14 106012102C> G null R P 58 58 missense 0.58 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed rs1454745148 14q32.33 14 106012100G> A null Q * 59 59 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782810181 14q32.33 14 106012099T> A null Q L 59 59 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782142184 14q32.33 14 106012097G> C null P A 60 60 missense 0.022 benign 0.23 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421376 14q32.33 14 106012096G> T null P H 60 60 missense 0.053 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782142184 14q32.33 14 106012097G> A null P S 60 60 missense 0.013 benign 0.15 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782142184 14q32.33 14 106012097G> T null P T 60 60 missense 0.053 benign 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs74872186 14q32.33 14 106012094G> C null P A 61 61 0.141 missense 0.282 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782381883 14q32.33 14 106012093G> C null P R 61 61 missense 0.706 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs74872186 14q32.33 14 106012094G> A null P S 61 61 0.141 missense 0.657 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs74872186 14q32.33 14 106012094G> T null P T 61 61 0.141 missense 0.282 benign 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421370 14q32.33 14 106012090C> T null G E 62 62 missense 0.785 possibly damaging 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782178517 14q32.33 14 106012088T> A null K * 63 63 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782338629 14q32.33 14 106012087T> A null K M 63 63 missense 0.916 probably damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782178517 14q32.33 14 106012088T> G null K Q 63 63 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782338629 14q32.33 14 106012087T> C null K R 63 63 missense 0.393 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782338629 14q32.33 14 106012087T> G null K T 63 63 missense 0.949 probably damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs541556816 14q32.33 14 106012084C> G null G A 64 64 2.0E-4 missense 0.13 benign 0.07 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs541556816 14q32.33 14 106012084C> T null G E 64 64 2.0E-4 missense 0.271 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs563437296 14q32.33 14 106012085C> T null G R 64 64 3.99E-4 missense 0.196 benign 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781828607 14q32.33 14 106012081A> G null L P 65 65 missense 0.826 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782445644 14q32.33 14 106012082G> C null L V 65 65 missense 0.856 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421354 14q32.33 14 106012078T> C null E G 66 66 missense 0.973 probably damaging 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs534509162 14q32.33 14 106012079C> T null E K 66 66 5.99E-4 missense 0.47 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs534509162 14q32.33 14 106012079C> G null E Q 66 66 5.99E-4 missense 0.485 possibly damaging 0.1 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782073402 14q32.33 14 106012074C> T null W * 67 67 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782800550 14q32.33 14 106012075C> T null W * 67 67 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782073402 14q32.33 14 106012074C> A null W C 67 67 missense 0.675 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421353 14q32.33 14 106012076A> C null W G 67 67 missense 0.375 benign 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs558475881 14q32.33 14 106012073T> G null I L 68 68 3.99E-4 missense 0.05 benign 0.37 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421350 14q32.33 14 106012071A> C null I M 68 68 missense 0.143 benign 0.96 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed,gnomAD rs1218320306 14q32.33 14 106012072A> G null I T 68 68 missense 0.271 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs558475881 14q32.33 14 106012073T> C null I V 68 68 3.99E-4 missense 0.132 benign 0.45 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421349 14q32.33 14 106012069C> T null G E 69 69 missense 0.849 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed rs782376510 14q32.33 14 106012067C> A null E * 70 70 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73365408 14q32.33 14 106012066T> G null E A 70 70 0.1691 missense 0.006 benign 0.51 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782612828 14q32.33 14 106012065T> G null E D 70 70 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782612828 14q32.33 14 106012065T> A null E D 70 70 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73365408 14q32.33 14 106012066T> C null E G 70 70 0.1691 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC rs782528367 14q32.33 14 106012065_106012066delinsA C null E G 70 70 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed rs782376510 14q32.33 14 106012067C> T null E K 70 70 missense 0.003 benign 0.3 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed rs782376510 14q32.33 14 106012067C> G null E Q 70 70 missense 0.006 benign 0.3 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73365408 14q32.33 14 106012066T> A null E V 70 70 0.1691 missense 0.003 benign 0.5 tolerated - low confidence 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes rs569156937 14q32.33 14 106012064T> A null I F 71 71 3.99E-4 missense 0.271 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes rs569156937 14q32.33 14 106012064T> G null I L 71 71 3.99E-4 missense 0.196 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782679846 14q32.33 14 106012062G> C null I M 71 71 missense 0.543 possibly damaging 0.1 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782456986 14q32.33 14 106012063A> G null I T 71 71 missense 0.543 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes rs569156937 14q32.33 14 106012064T> C null I V 71 71 3.99E-4 missense 0.091 benign 0.12 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,gnomAD rs377228780 14q32.33 14 106012059A> C null Y * 72 72 2.0E-4 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,gnomAD rs377228780 14q32.33 14 106012059A> T null Y * 72 72 2.0E-4 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ESP,ExAC,TOPMed,gnomAD rs367846839 14q32.33 14 106012061A> C null Y D 72 72 missense 0.003 benign 0.2 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes rs557433966 14q32.33 14 106012060T> A null Y F 72 72 2.0E-4 missense 0.015 benign 0.46 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ESP,ExAC,TOPMed,gnomAD rs367846839 14q32.33 14 106012061A> G null Y H 72 72 missense 0.003 benign 0.4 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ESP,ExAC,TOPMed,gnomAD rs367846839 14q32.33 14 106012061A> T null Y N 72 72 missense 0.003 benign 0.26 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes rs557433966 14q32.33 14 106012060T> G null Y S 72 72 2.0E-4 missense 0.003 benign 0.33 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs567929651 14q32.33 14 106012058G> C null H D 73 73 0.04593 missense 0.003 benign 0.08 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs200172352 14q32.33 14 106012057T> A null H L 73 73 0.122 missense 0.003 benign 0.24 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs567929651 14q32.33 14 106012058G> T null H N 73 73 0.04593 missense 0.001 benign 0.24 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 Ensembl rs1555421323 14q32.33 14 106012056_106012057delinsG G null H P 73 73 missense 0.006 benign 0.08 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs200172352 14q32.33 14 106012057T> G null H P 73 73 0.122 missense 0.006 benign 0.08 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs200172352 14q32.33 14 106012057T> C null H R 73 73 0.122 missense 0.003 benign 0.14 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782815870 14q32.33 14 106012057_106012058delinsG T null H T 73 73 missense 0.003 benign 0.19 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs567929651 14q32.33 14 106012058G> A null H Y 73 73 0.04593 missense 0.0 benign 1.0 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782353848 14q32.33 14 106012055T> C null S G 74 74 missense 0.001 benign 0.33 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed rs570447430 14q32.33 14 106012054C> T null S N 74 74 5.99E-4 missense 0.015 benign 0.21 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782353848 14q32.33 14 106012055T> G null S R 74 74 missense 0.058 benign 0.12 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed rs570447430 14q32.33 14 106012054C> G null S T 74 74 5.99E-4 missense 0.025 benign 0.18 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed,gnomAD rs1427177967 14q32.33 14 106012051C> T null G E 75 75 missense 0.328 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421316 14q32.33 14 106012052C> T null G R 75 75 missense 0.328 benign 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed,gnomAD rs1427177967 14q32.33 14 106012051C> A null G V 75 75 missense 0.747 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs552043473 14q32.33 14 106012049T> C null S G 76 76 0.002396 missense 0.001 benign 0.12 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ESP,ExAC,gnomAD rs372892632 14q32.33 14 106012048C> A null S I 76 76 missense 0.097 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ESP,ExAC,gnomAD rs372892632 14q32.33 14 106012048C> T null S N 76 76 missense 0.015 benign 0.23 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs530575188 14q32.33 14 106012047G> T null S R 76 76 3.99E-4 missense 0.058 benign 0.11 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs552043473 14q32.33 14 106012049T> G null S R 76 76 0.002396 missense 0.058 benign 0.11 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ESP,ExAC,gnomAD rs372892632 14q32.33 14 106012048C> G null S T 76 76 missense 0.036 benign 0.08 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,TOPMed,gnomAD rs563088788 14q32.33 14 106012046T> C null T A 77 77 3.99E-4 missense 0.13 benign 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ESP,ExAC,gnomAD rs368342830 14q32.33 14 106012045G> A null T I 77 77 missense 0.196 benign 0.05 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ESP,ExAC,gnomAD rs368342830 14q32.33 14 106012045G> T null T N 77 77 missense 0.196 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,TOPMed,gnomAD rs563088788 14q32.33 14 106012046T> G null T P 77 77 3.99E-4 missense 0.196 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs201384619 14q32.33 14 106012043T> C null N D 78 78 2.0E-4 missense 0.003 benign 0.2 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs201384619 14q32.33 14 106012043T> G null N H 78 78 2.0E-4 missense 0.015 benign 0.48 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781816793 14q32.33 14 106012042T> A null N I 78 78 missense 0.015 benign 0.34 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,gnomAD rs374341262 14q32.33 14 106012041G> T null N K 78 78 5.99E-4 missense 0.003 benign 0.27 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,gnomAD rs374341262 14q32.33 14 106012041G> C null N K 78 78 5.99E-4 missense 0.003 benign 0.27 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781816793 14q32.33 14 106012042T> C null N S 78 78 missense 0.003 benign 0.39 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781816793 14q32.33 14 106012042T> G null N T 78 78 missense 0.011 benign 0.34 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs201384619 14q32.33 14 106012043T> A null N Y 78 78 2.0E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782023193 14q32.33 14 106012039T> C null Y C 79 79 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421302 14q32.33 14 106012040A> C null Y D 79 79 missense 0.58 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421302 14q32.33 14 106012040A> G null Y H 79 79 missense 0.456 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs573468565 14q32.33 14 106012037T> C null N D 80 80 2.0E-4 missense 0.14 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781973362 14q32.33 14 106012036T> A null N I 80 80 missense 0.257 benign 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs558537798 14q32.33 14 106012035G> C null N K 80 80 3.99E-4 missense 0.756 possibly damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781973362 14q32.33 14 106012036T> C null N S 80 80 missense 0.063 benign 0.41 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781973362 14q32.33 14 106012036T> G null N T 80 80 missense 0.221 benign 0.08 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs573468565 14q32.33 14 106012037T> A null N Y 80 80 2.0E-4 missense 0.862 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782639118 14q32.33 14 106012033G> A null P L 81 81 missense 0.698 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782639118 14q32.33 14 106012033G> C null P R 81 81 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs546136389 14q32.33 14 106012034G> A null P S 81 81 2.0E-4 missense 0.725 possibly damaging 0.06 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs546136389 14q32.33 14 106012034G> T null P T 81 81 2.0E-4 missense 0.912 probably damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782271556 14q32.33 14 106012028G> A null L F 83 83 missense 0.369 benign 0.2 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782271556 14q32.33 14 106012028G> C null L V 83 83 missense 0.624 possibly damaging 0.07 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782431189 14q32.33 14 106012025T> C null K E 84 84 missense 0.196 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782431189 14q32.33 14 106012025T> G null K Q 84 84 missense 0.206 benign 0.33 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs557039560 14q32.33 14 106012024T> C null K R 84 84 2.0E-4 missense 0.196 benign 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782585386 14q32.33 14 106012022T> A null S C 85 85 missense 0.461 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782585386 14q32.33 14 106012022T> C null S G 85 85 missense 0.056 benign 0.16 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421296 14q32.33 14 106012021C> T null S N 85 85 missense 0.196 benign 0.06 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421296 14q32.33 14 106012021C> G null S T 85 85 missense 0.298 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421295 14q32.33 14 106012019G> A null R * 86 86 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed rs1240171546 14q32.33 14 106012018C> T null R Q 86 86 missense 0.624 possibly damaging 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,gnomAD rs370633933 14q32.33 14 106012016C> T null V I 87 87 2.0E-4 missense 0.003 benign 0.88 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,gnomAD rs370633933 14q32.33 14 106012016C> G null V L 87 87 2.0E-4 missense 0.009 benign 0.5 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782072358 14q32.33 14 106012013T> C null T A 88 88 missense 0.062 benign 0.05 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421291 14q32.33 14 106012012G> A null T I 88 88 missense 0.097 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782072358 14q32.33 14 106012013T> A null T S 88 88 missense 0.011 benign 1.0 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421291 14q32.33 14 106012012G> C null T S 88 88 missense 0.011 benign 1.0 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781798368 14q32.33 14 106012010T> G null I L 89 89 missense 0.082 benign 0.05 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781798368 14q32.33 14 106012010T> A null I L 89 89 missense 0.082 benign 0.05 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs76899215 14q32.33 14 106012008T> C null I M 89 89 0.3718 missense 0.318 benign 0.09 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781798368 14q32.33 14 106012010T> C null I V 89 89 missense 0.082 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421281 14q32.33 14 106012006G> C null S * 90 90 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421281 14q32.33 14 106012006G> A null S L 90 90 missense 0.115 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782081838 14q32.33 14 106012007A> T null S T 90 90 missense 0.031 benign 0.57 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782175670 14q32.33 14 106012003A> G null V A 91 91 missense 0.001 benign 0.58 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782323000 14q32.33 14 106012004C> T null V I 91 91 missense 0.003 benign 0.1 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782323000 14q32.33 14 106012004C> A null V L 91 91 missense 0.003 benign 0.2 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782323000 14q32.33 14 106012004C> G null V L 91 91 missense 0.003 benign 0.2 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs534546683 14q32.33 14 106012000T> G null D A 92 92 2.0E-4 missense 0.35 benign 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC rs782250956 14q32.33 14 106011999G> C null D E 92 92 missense 0.35 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421272 14q32.33 14 106012001C> G null D H 92 92 missense 0.74 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421272 14q32.33 14 106012001C> T null D N 92 92 missense 0.451 possibly damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421272 14q32.33 14 106012001C> A null D Y 92 92 missense 0.766 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs77628366 14q32.33 14 106011997T> A null K M 93 93 missense 0.005 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782575361 14q32.33 14 106011996C> G null K N 93 93 missense 0.075 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs77628366 14q32.33 14 106011997T> C null K R 93 93 missense 0.001 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,TOPMed,gnomAD rs77628366 14q32.33 14 106011997T> G null K T 93 93 missense 0.0 benign 1.0 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421268 14q32.33 14 106011995A> C null S A 94 94 missense 0.051 benign 0.1 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 TOPMed rs1450776092 14q32.33 14 106011994G> T null S Y 94 94 missense 0.165 benign 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs570309605 14q32.33 14 106011992T> A null K * 95 95 2.0E-4 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs570309605 14q32.33 14 106011992T> C null K E 95 95 2.0E-4 missense 0.529 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs552448594 14q32.33 14 106011990C> G null K N 95 95 2.0E-4 missense 0.393 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs552448594 14q32.33 14 106011990C> A null K N 95 95 2.0E-4 missense 0.393 benign 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421265 14q32.33 14 106011991T> C null K R 95 95 missense 0.393 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs781848969 14q32.33 14 106011987G> C null N K 96 96 missense 0.48 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs781848969 14q32.33 14 106011987G> T null N K 96 96 missense 0.48 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421262 14q32.33 14 106011988T> C null N S 96 96 missense 0.616 possibly damaging 0.15 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421262 14q32.33 14 106011988T> G null N T 96 96 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782800200 14q32.33 14 106011986G> A null Q * 97 97 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782800200 14q32.33 14 106011986G> C null Q E 97 97 missense 0.284 benign 0.09 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421261 14q32.33 14 106011984C> G null Q H 97 97 missense 0.579 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782066899 14q32.33 14 106011985T> G null Q P 97 97 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782066899 14q32.33 14 106011985T> C null Q R 97 97 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs530673469 14q32.33 14 106011983A> T null F I 98 98 2.0E-4 missense 0.406 benign 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782364242 14q32.33 14 106011981G> T null F L 98 98 missense 0.194 benign 0.05 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs530673469 14q32.33 14 106011983A> G null F L 98 98 2.0E-4 missense 0.194 benign 0.05 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782364242 14q32.33 14 106011981G> C null F L 98 98 missense 0.194 benign 0.05 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421257 14q32.33 14 106011980A> C null S A 99 99 missense 0.298 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782284344 14q32.33 14 106011979G> A null S F 99 99 missense 0.091 benign 0.22 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs569647208 14q32.33 14 106011976A> T null L Q 100 100 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421249 14q32.33 14 106011974T> A null K * 101 101 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421249 14q32.33 14 106011974T> C null K E 101 101 missense 0.017 benign 0.04 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782530319 14q32.33 14 106011972C> G null K N 101 101 missense 0.015 benign 0.05 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782530319 14q32.33 14 106011972C> A null K N 101 101 missense 0.015 benign 0.05 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs547846980 14q32.33 14 106011973T> C null K R 101 101 5.99E-4 missense 0.01 benign 0.13 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs547846980 14q32.33 14 106011973T> G null K T 101 101 5.99E-4 missense 0.042 benign 0.05 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782692847 14q32.33 14 106011971G> C null L V 102 102 missense 0.855 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781825300 14q32.33 14 106011967C> A null S I 103 103 missense 0.29 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781825300 14q32.33 14 106011967C> T null S N 103 103 missense 0.036 benign 0.26 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,gnomAD rs368090976 14q32.33 14 106011966G> C null S R 103 103 3.99E-4 missense 0.134 benign 0.21 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782697507 14q32.33 14 106011968T> G null S R 103 103 missense 0.134 benign 0.21 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781825300 14q32.33 14 106011967C> G null S T 103 103 missense 0.099 benign 0.14 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782026339 14q32.33 14 106011964G> T null S Y 104 104 missense 0.706 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782351662 14q32.33 14 106011962C> G null V L 105 105 missense 0.21 benign 0.35 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782351662 14q32.33 14 106011962C> A null V L 105 105 missense 0.21 benign 0.35 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782351662 14q32.33 14 106011962C> T null V M 105 105 missense 0.675 possibly damaging 0.09 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782416865 14q32.33 14 106011959T> C null T A 106 106 missense 0.584 possibly damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782416865 14q32.33 14 106011959T> G null T P 106 106 missense 0.764 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421235 14q32.33 14 106011955G> T null A D 107 107 missense 0.058 benign 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782580461 14q32.33 14 106011956C> T null A T 107 107 missense 0.007 benign 0.83 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782226793 14q32.33 14 106011952G> A null A V 108 108 missense 0.035 benign 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782524140 14q32.33 14 106011948G> T null D E 109 109 missense 0.603 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782524140 14q32.33 14 106011948G> C null D E 109 109 missense 0.603 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC rs782518552 14q32.33 14 106011949T> C null D G 109 109 missense 0.698 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781794179 14q32.33 14 106011943G> T null A D 111 111 missense 0.773 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421229 14q32.33 14 106011944C> T null A T 111 111 missense 0.856 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781879942 14q32.33 14 106011940A> G null V A 112 112 missense 0.738 possibly damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs541126887 14q32.33 14 106011941C> G null V L 112 112 2.0E-4 missense 0.091 benign 0.07 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs541126887 14q32.33 14 106011941C> A null V L 112 112 2.0E-4 missense 0.091 benign 0.07 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ExAC,gnomAD rs541126887 14q32.33 14 106011941C> T null V M 112 112 2.0E-4 missense 0.323 benign 0.28 tolerated 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782170115 14q32.33 14 106011937T> C null Y C 113 113 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782328975 14q32.33 14 106011933G> C null Y * 114 114 stop gained 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150123115 14q32.33 14 106011934T> C null Y C 114 114 0.1218 missense 0.654 possibly damaging 0.02 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs782044034 14q32.33 14 106011932A> G null C R 115 115 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,TOPMed,gnomAD rs782336598 14q32.33 14 106011928G> T null A E 116 116 missense 0.534 possibly damaging 0.0 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 ExAC,gnomAD rs781968942 14q32.33 14 106011929C> T null A T 116 116 missense 0.35 benign 0.03 deleterious 0 A0A075B6R2 IGHV4-4 Immunoglobulin heavy variable 4-4 gnomAD rs1555421214 14q32.33 14 106011925C> T null R K 117 117 missense 0.796 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1451462374 17q24.2 17 67218800T> C null E G 2 2 missense 0.025 benign 0.15 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,TOPMed,gnomAD rs374183389 17q24.2 17 67218795T> C null R G 4 4 missense 0.079 benign 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1458078690 17q24.2 17 67218792T> C null R G 5 5 missense 0.13 benign 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,gnomAD rs529538393 17q24.2 17 67218773T> C null E G 11 11 2.0E-4 missense 0.537 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs955619017 17q24.2 17 67218769T> G null Q H 12 12 missense 0.854 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs987021949 17q24.2 17 67218770T> C null Q R 12 12 missense 0.452 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs750919136 17q24.2 17 67218767G> A null A V 13 13 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1162053287 17q24.2 17 67218764C> A null C F 14 14 missense 0.854 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1364440437 17q24.2 17 67218765A> C null C G 14 14 missense 0.376 benign 0.03 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs764780578 17q24.2 17 67218760T> A null E D 15 15 missense 0.015 benign 0.07 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1157848377 17q24.2 17 67218742G> C null D E 21 21 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP rs369440907 17q24.2 17 67218740T> C null Y C 22 22 missense 0.425 benign 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1253644615 17q24.2 17 67218729G> A null L F 26 26 missense 0.082 benign 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs935908194 17q24.2 17 67218725T> C null K R 27 27 missense 0.0 benign 0.55 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs935908194 17q24.2 17 67218725T> G null K T 27 27 missense 0.0 benign 0.24 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1292592164 17q24.2 17 67218722T> C null H R 28 28 missense 0.26 benign 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs576129039 17q24.2 17 67218705G> T null L I 34 34 missense 0.01 benign 0.06 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs576129039 17q24.2 17 67218705G> C null L V 34 34 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs1030965025 17q24.2 17 67218699G> A null L F 36 36 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,TOPMed rs377727533 17q24.2 17 67218698A> G null L P 36 36 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1286346699 17q24.2 17 67218696C> T null G S 37 37 missense 0.007 benign 0.38 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs948693651 17q24.2 17 67218692T> G null Q P 38 38 missense 0.0 benign 0.44 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs948693651 17q24.2 17 67218692T> C null Q R 38 38 missense 0.3 benign 0.88 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs771988015 17q24.2 17 67218686G> C null S C 40 40 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,gnomAD rs540361785 17q24.2 17 67218687A> G null S P 40 40 2.0E-4 missense 0.0 benign 0.48 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs771988015 17q24.2 17 67218686G> T null S Y 40 40 missense 0.172 benign 0.02 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1267908280 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 67218682C> A null M I 41 41 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1222503436 17q24.2 17 67218684T> C null M V 41 41 missense 0.001 benign 0.65 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs770033046 17q24.2 17 67218673G> C null F L 44 44 missense 0.0 benign 0.72 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs774407874 17q24.2 17 67218675A> G null F L 44 44 missense 0.0 benign 0.72 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,NCI-TCGA,gnomAD rs748132369 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 67218665G> A null P L 47 47 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs2302669 17q24.2 17 67218663A> G null C R 48 48 0.002396 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1437982388 17q24.2 17 67218662C> T null C Y 48 48 missense 0.202 benign 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs768700363 17q24.2 17 67218660G> C null P A 49 49 missense 0.017 benign 0.16 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs780343195 cosmic curated [Cosmic]: large_intestine cosmic_study:376 17q24.2 17 67218655C> G null L F 50 50 missense 0.047 benign 0.59 tolerated - low confidence 1 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs750972435 17q24.2 17 67218650A> G null I T 52 52 missense 0.007 benign 0.26 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs758742575 17q24.2 17 67218651T> C null I V 52 52 missense 0.0 benign 0.56 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,TOPMed,gnomAD rs369869467 17q24.2 17 67218645G> A null R C 54 54 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,TOPMed,gnomAD rs369869467 17q24.2 17 67218645G> C null R G 54 54 missense 0.007 benign 0.51 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,NCI-TCGA,TOPMed,gnomAD rs763814134 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q24.2 17 67218644C> T null R H 54 54 missense 0.0 benign 0.03 deleterious - low confidence 1 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs752379724 17q24.2 17 67218617C> T null R K 63 63 missense 0.931 probably damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,TOPMed,gnomAD rs371335037 17q24.2 17 67218614A> G null I T 64 64 missense 0.966 probably damaging 0.02 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,TOPMed,gnomAD rs564215182 17q24.2 17 67218598T> G null Q H 69 69 2.0E-4 missense 0.949 probably damaging 0.05 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs8080100 17q24.2 17 67215926C> T null V M 74 74 0.1959 missense 0.473 possibly damaging 0.07 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1168790916 17q24.2 17 67215922T> C null Q R 75 75 missense 0.065 benign 0.02 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs759423676 17q24.2 17 67215914C> G null E Q 78 78 missense 0.951 probably damaging 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1376745983 17q24.2 17 67215911C> G null D H 79 79 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1426254961 17q24.2 17 67215904C> T null R K 81 81 missense 0.012 benign 1.0 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1304340708 17q24.2 17 67215899C> T null V M 83 83 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1006097813 17q24.2 17 67203434T> A null E V 86 86 missense 0.395 benign 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs760683957 17q24.2 17 67203432C> T null G R 87 87 missense 0.737 possibly damaging 0.1 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1483816511 17q24.2 17 67203428A> T null L Q 88 88 missense 0.416 benign 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1487504549 17q24.2 17 67203417C> T null E K 92 92 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1488041525 17q24.2 17 67203410G> C null A G 94 94 missense 0.095 benign 0.05 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1028609596 17q24.2 17 67203404C> T null R Q 96 96 missense 0.005 benign 0.9 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1267152431 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 67203405G> A null R W 96 96 missense 0.82 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1471754467 17q24.2 17 67203390A> G null C R 101 101 missense 0.197 benign 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs775482097 17q24.2 17 67203389C> T null C Y 101 101 missense 0.061 benign 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1203853737 17q24.2 17 67203387T> C null M V 102 102 missense 0.06 benign 0.05 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs749623489 17q24.2 17 67203363G> C null P A 110 110 missense 0.0 benign 0.47 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs773614996 17q24.2 17 67203360C> A null V L 111 111 missense 0.777 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1402480268 17q24.2 17 67203353G> A null T I 113 113 missense 0.0 benign 0.14 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs747662483 17q24.2 17 67203351T> C null I V 114 114 missense 0.003 benign 0.44 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs901577384 17q24.2 17 67203344G> T null A D 116 116 missense 0.119 benign 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1161802134 17q24.2 17 67203342T> C null K E 117 117 missense 0.829 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,TOPMed,gnomAD rs541923599 cosmic curated [Cosmic]: large_intestine cosmic_study:376 17q24.2 17 67203326T> C null E G 122 122 2.0E-4 missense 0.829 possibly damaging 0.0 deleterious - low confidence 1 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1197639514 17q24.2 17 67203323G> A null S F 123 123 missense 0.491 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs746701843 17q24.2 17 67203320A> G null L P 124 124 missense 0.862 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1046994977 17q24.2 17 67203321G> C null L V 124 124 missense 0.23 benign 0.06 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1162108408 17q24.2 17 67201176C> G null V L 128 128 missense 0.058 benign 0.02 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1307604794 17q24.2 17 67201161T> G null T P 133 133 missense 0.806 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs1567886561 17q24.2 17 67201158T> C null R G 134 134 missense 0.842 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs779590399 17q24.2 17 67201151T> G null K T 136 136 missense 0.88 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs771689154 17q24.2 17 67201149T> C null T A 137 137 missense 0.076 benign 0.31 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1423640247 17q24.2 17 67201148G> A null T I 137 137 missense 0.005 benign 0.27 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs757026085 17q24.2 17 67201130T> C null E G 143 143 missense 0.637 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1327457119 17q24.2 17 67195470T> C null T A 144 144 missense 0.0 benign 0.66 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1452667914 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 67195455C> T null A T 149 149 missense 0.003 benign 0.25 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,TOPMed,gnomAD rs181390372 17q24.2 17 67195452G> A null L F 150 150 2.0E-4 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,TOPMed,gnomAD rs181390372 17q24.2 17 67195452G> C null L V 150 150 2.0E-4 missense 0.003 benign 0.42 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1331594745 17q24.2 17 67195445C> T null G E 152 152 missense 0.005 benign 1.0 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1448412251 17q24.2 17 67195442T> G null Y S 153 153 missense 0.005 benign 0.4 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs769560803 17q24.2 17 67195438G> T null H Q 154 154 missense 0.246 benign 0.05 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1366330873 17q24.2 17 67195436A> G null V A 155 155 missense 0.0 benign 0.76 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1223951091 17q24.2 17 67195437C> T null V M 155 155 missense 0.011 benign 0.2 tolerated - low confidence 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs748163651 17q24.2 17 67195430T> C null D G 157 157 missense 0.158 benign 0.02 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs971021068 17q24.2 17 67195424T> C null D G 159 159 missense 0.037 benign 0.02 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,gnomAD rs371937478 17q24.2 17 67195420C> G null E D 160 160 missense 0.007 benign 0.05 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1235396447 17q24.2 17 67194039G> C null S C 162 162 missense 0.723 possibly damaging 0.06 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs896577744 17q24.2 17 67194036C> T null C Y 163 163 missense 0.021 benign 1.0 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs1567880117 17q24.2 17 67194030C> G null G A 165 165 missense 0.022 benign 0.02 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs779196047 17q24.2 17 67194025G> A null H Y 167 167 missense 0.0 benign 0.14 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1344209687 17q24.2 17 67194013G> A null P S 171 171 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1262029275 17q24.2 17 67193997G> A null T I 176 176 missense 0.23 benign 0.05 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs888027117 17q24.2 17 67193989C> T null E K 179 179 missense 0.169 benign 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC rs778104249 17q24.2 17 67193977A> T null L M 183 183 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1314251354 17q24.2 17 67190339T> C null I V 192 192 missense 0.089 benign 0.21 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs775540709 17q24.2 17 67190324C> A null A S 197 197 missense 0.262 benign 0.13 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1456811403 17q24.2 17 67190314G> A null T I 200 200 missense 0.667 possibly damaging 0.03 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs749334847 17q24.2 17 67190302G> C null S C 204 204 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1420380634 17q24.2 17 67190287G> C null A G 209 209 missense 0.191 benign 0.41 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1179500854 17q24.2 17 67190288C> T null A T 209 209 missense 0.009 benign 0.76 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1420380634 17q24.2 17 67190287G> A null A V 209 209 missense 0.109 benign 0.43 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1270245757 17q24.2 17 67190279G> T null Q K 212 212 missense 0.024 benign 0.57 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1250573244 17q24.2 17 67190275T> C null K R 213 213 missense 0.017 benign 0.16 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1209211615 17q24.2 17 67190273T> C null R G 214 214 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs769837943 17q24.2 17 67190261G> A null R W 218 218 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs748394680 17q24.2 17 67190253T> C null I M 220 220 missense 0.035 benign 0.47 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs926560342 17q24.2 17 67190255T> C null I V 220 220 missense 0.286 benign 0.05 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs980371029 17q24.2 17 67190239T> C null Q R 225 225 missense 0.579 possibly damaging 0.14 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1231983149 17q24.2 17 67190237T> C null N D 226 226 missense 0.015 benign 0.31 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs367996525 17q24.2 17 67190236T> C null N S 226 226 missense 0.0 benign 0.47 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs781464008 17q24.2 17 67190230T> A null N I 228 228 missense 0.333 benign 0.07 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1336470885 17q24.2 17 67190229A> C null N K 228 228 missense 0.013 benign 0.92 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs200384865 17q24.2 17 67190215C> T null G D 233 233 missense 0.218 benign 0.16 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,NCI-TCGA,gnomAD rs780497369 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q24.2 17 67190207T> C null M V 236 236 missense 0.024 benign 0.11 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC rs757919349 17q24.2 17 67190200G> C null T S 238 238 missense 0.007 benign 0.32 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1457054304 17q24.2 17 67190173A> G null L S 247 247 missense 0.024 benign 0.92 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1386851819 17q24.2 17 67190162T> C null K E 251 251 missense 0.029 benign 0.05 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1156548652 17q24.2 17 67190158A> G null V A 252 252 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1054743595 17q24.2 17 67189688T> A null E D 255 255 missense 0.138 benign 0.32 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs769038793 17q24.2 17 67189687A> G null C R 256 256 missense 0.0 benign 0.43 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,TOPMed,gnomAD rs367881039 17q24.2 17 67189686C> T null C Y 256 256 missense 0.0 benign 1.0 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes rs201000755 17q24.2 17 67189683A> G null I T 257 257 missense 0.155 benign 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200311859 17q24.2 17 67189684T> C null I V 257 257 3.99E-4 missense 0.01 benign 1.0 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs975671234 17q24.2 17 67189675C> T null V I 260 260 missense 0.562 possibly damaging 0.08 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes rs202134155 17q24.2 17 67189668A> G null V A 262 262 missense 0.168 benign 0.15 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs927257569 17q24.2 17 67189661G> C null H Q 264 264 missense 0.424 benign 0.3 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs758973291 17q24.2 17 67189659T> C null N S 265 265 missense 0.007 benign 1.0 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1405675039 17q24.2 17 67189645C> T null V I 270 270 missense 0.097 benign 0.06 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs981471059 17q24.2 17 67189638A> G null V A 272 272 missense 0.118 benign 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs1019582166 17q24.2 17 67189639C> T null V I 272 272 missense 0.118 benign 0.2 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1255749483 17q24.2 17 67189629T> C null K R 275 275 missense 0.417 benign 0.07 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs778336341 17q24.2 17 67189620T> C null H R 278 278 missense 0.029 benign 0.55 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC rs753468509 17q24.2 17 67189611C> A null W L 281 281 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC rs763756195 17q24.2 17 67189609T> C null T A 282 282 missense 0.441 benign 0.06 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs755989625 17q24.2 17 67189603C> A null A S 284 284 missense 0.007 benign 0.99 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1443529087 17q24.2 17 67189596G> A null T I 286 286 missense 0.053 benign 0.4 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1228378752 17q24.2 17 67189597T> A null T S 286 286 missense 0.097 benign 0.41 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1340647396 17q24.2 17 67189591T> C null K E 288 288 missense 0.119 benign 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1282765247 17q24.2 17 67188613C> G null A P 290 290 missense 0.006 benign 0.27 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs935564031 17q24.2 17 67188605C> A null M I 292 292 missense 0.015 benign 0.4 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1408699027 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 17q24.2 17 67188597C> T null R H 295 295 missense 0.087 benign 0.14 tolerated 1 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1024155409 17q24.2 17 67188571G> A null R C 304 304 missense 0.626 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs777293212 17q24.2 17 67188567G> C null P R 305 305 missense 0.085 benign 0.15 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs550045835 17q24.2 17 67188565G> A null H Y 306 306 missense 0.251 benign 0.07 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs542869542 17q24.2 17 67188552A> G null I T 310 310 missense 0.003 benign 0.95 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs201563820 17q24.2 17 67188540G> A null A V 314 314 missense 0.029 benign 0.43 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1159334465 17q24.2 17 67188535C> T null D N 316 316 missense 0.018 benign 0.17 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs767464522 17q24.2 17 67188531C> T null S N 317 317 missense 0.075 benign 0.14 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1418853708 17q24.2 17 67188528G> C null T S 318 318 missense 0.006 benign 0.77 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs754788549 17q24.2 17 67188525G> A null T I 319 319 missense 0.103 benign 0.09 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1471665078 17q24.2 17 67188522T> C null Q R 320 320 missense 0.932 probably damaging 0.14 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs751482604 17q24.2 17 67188520C> T null V I 321 321 missense 0.014 benign 0.27 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs751482604 17q24.2 17 67188520C> G null V L 321 321 missense 0.0 benign 0.41 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1451523282 17q24.2 17 67188513T> C null Q R 323 323 missense 0.316 benign 0.16 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1215946300 17q24.2 17 67188505G> A null P S 326 326 missense 0.132 benign 0.11 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1335832851 17q24.2 17 67188500T> A null E D 327 327 missense 0.085 benign 0.3 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,TOPMed,gnomAD rs373298100 17q24.2 17 67188488T> G null E D 331 331 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1343047928 17q24.2 17 67188473C> G null K N 336 336 missense 0.009 benign 0.32 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1370594536 17q24.2 17 67188471A> G null M T 337 337 missense 0.0 benign 0.79 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs1377558816 17q24.2 17 67188469C> T null A T 338 338 missense 0.013 benign 0.28 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs760937765 17q24.2 17 67188465T> G null Q P 339 339 missense 0.0 benign 0.32 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs960849096 17q24.2 17 67188445C> T null V M 346 346 missense 0.469 possibly damaging 0.03 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1462831526 17q24.2 17 67188439T> A null K * 348 348 stop gained 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1158748727 17q24.2 17 67188432C> T null G E 350 350 missense 0.007 benign 0.95 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1158748727 17q24.2 17 67188432C> A null G V 350 350 missense 0.009 benign 0.36 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1015141034 17q24.2 17 67188430T> C null I V 351 351 missense 0.015 benign 1.0 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1410329677 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 67188427C> T null A T 352 352 missense 0.053 benign 0.24 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1226204652 17q24.2 17 67188426G> A null A V 352 352 missense 0.053 benign 0.41 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs868136566 17q24.2 17 67188397G> A null R C 362 362 missense 0.368 benign 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,NCI-TCGA,TOPMed,gnomAD rs771405149 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q24.2 17 67188396C> T null R H 362 362 missense 0.263 benign 0.0 deleterious 1 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs749752032 17q24.2 17 67188388T> C null I V 365 365 missense 0.003 benign 0.97 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs769402243 17q24.2 17 67188369A> C null L W 371 371 missense 0.883 possibly damaging 0.19 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs780951777 17q24.2 17 67188354A> G null M T 376 376 missense 0.272 benign 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs747839654 17q24.2 17 67188355T> C null M V 376 376 missense 0.01 benign 0.5 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs754751108 17q24.2 17 67188348C> G null R T 378 378 missense 0.833 possibly damaging 0.12 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1164034348 17q24.2 17 67188331C> T null A T 384 384 missense 0.767 possibly damaging 0.02 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1442962153 17q24.2 17 67188328A> G null S P 385 385 missense 0.034 benign 0.54 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs996129596 17q24.2 17 67188325T> C null T A 386 386 missense 0.024 benign 0.33 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs778777258 17q24.2 17 67178923A> G null L P 389 389 missense 0.131 benign 0.05 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,TOPMed,gnomAD rs369324992 17q24.2 17 67178919T> A null E D 390 390 missense 0.05 benign 0.12 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,NCI-TCGA,TOPMed,gnomAD rs752709298 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q24.2 17 67178921C> T null E K 390 390 missense 0.03 benign 0.11 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs759857079 17q24.2 17 67178912T> A null M L 393 393 missense 0.0 benign 0.33 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs751706151 17q24.2 17 67178908T> C null H R 394 394 missense 0.001 benign 0.09 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs766802527 17q24.2 17 67178899T> C null Q R 397 397 missense 0.024 benign 0.2 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1295999234 17q24.2 17 67178882C> T null A T 403 403 missense 0.242 benign 0.18 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs763183693 17q24.2 17 67178878T> C null K R 404 404 missense 0.482 possibly damaging 0.1 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,NCI-TCGA,TOPMed,gnomAD rs773876578 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 67178876G> A null R C 405 405 missense 0.475 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,NCI-TCGA,TOPMed,gnomAD rs374896136 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 67178875C> T null R H 405 405 missense 0.475 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs773876578 17q24.2 17 67178876G> T null R S 405 405 missense 0.277 benign 0.04 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1415490090 17q24.2 17 67178869T> C null D G 407 407 missense 0.599 possibly damaging 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs776345522 17q24.2 17 67178860G> C null S C 410 410 missense 0.01 benign 0.23 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs768030069 17q24.2 17 67178854G> A null T I 412 412 missense 0.172 benign 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,TOPMed,gnomAD rs373653813 17q24.2 17 67178852T> C null I V 413 413 missense 0.161 benign 0.11 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1248813432 17q24.2 17 67178847T> C null I M 414 414 missense 0.366 benign 0.04 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,NCI-TCGA,gnomAD rs753397557 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 67178848A> G null I T 414 414 missense 0.155 benign 0.11 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs774967137 17q24.2 17 67178849T> C null I V 414 414 missense 0.01 benign 1.0 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs745609621 17q24.2 17 67178843A> C null F V 416 416 missense 0.641 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,TOPMed,gnomAD rs147625087 17q24.2 17 67178836G> A null P L 418 418 2.0E-4 missense 0.306 benign 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,TOPMed,gnomAD rs147625087 17q24.2 17 67178836G> C null P R 418 418 2.0E-4 missense 0.029 benign 0.05 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs749207696 17q24.2 17 67178832A> T null N K 419 419 missense 0.04 benign 0.14 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1249173818 17q24.2 17 67178830T> C null E G 420 420 missense 0.25 benign 0.18 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs891506885 17q24.2 17 67178825T> C null T A 422 422 missense 0.05 benign 0.41 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,gnomAD rs199924925 cosmic curated [Cosmic]: skin pubmed:22622578,cosmic_study:388 17q24.2 17 67178824G> A null T I 422 422 3.99E-4 missense 0.714 possibly damaging 0.02 deleterious 1 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1212842876 17q24.2 17 67178817C> A null L F 424 424 missense 0.07 benign 0.09 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1332335754 17q24.2 17 67178815T> C null E G 425 425 missense 0.067 benign 0.03 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1275308377 17q24.2 17 67178813T> C null K E 426 426 missense 0.013 benign 0.17 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs751834562 17q24.2 17 67178808G> C null S R 427 427 missense 0.053 benign 0.03 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs751834562 17q24.2 17 67178808G> T null S R 427 427 missense 0.053 benign 0.03 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs766462224 17q24.2 17 67178806A> T null L H 428 428 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs766462224 17q24.2 17 67178806A> C null L R 428 428 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,gnomAD rs535909295 17q24.2 17 67178801T> C null I V 430 430 2.0E-4 missense 0.013 benign 0.62 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1293394298 17q24.2 17 67178791T> C null Q R 433 433 missense 0.186 benign 0.23 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs762460153 17q24.2 17 67178785G> A null P L 435 435 missense 0.396 benign 0.05 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1313891593 17q24.2 17 67178782A> T null L H 436 436 missense 0.122 benign 0.27 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs763690660 17q24.2 17 67178769C> G null Q H 440 440 missense 0.085 benign 0.13 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1362769343 17q24.2 17 67178761G> C null T S 443 443 missense 0.118 benign 0.09 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs771562118 17q24.2 17 67178753C> T null V I 446 446 missense 0.056 benign 0.21 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1439226712 17q24.2 17 67178747C> T null D N 448 448 missense 0.085 benign 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1251172848 17q24.2 17 67178741A> T null S T 450 450 missense 0.031 benign 0.79 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1236401798 17q24.2 17 67178730C> G null K N 453 453 missense 0.184 benign 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1444640860 17q24.2 17 67178728C> T null S N 454 454 missense 0.007 benign 1.0 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs1041774881 17q24.2 17 67178725T> C null N S 455 455 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,NCI-TCGA,TOPMed,gnomAD rs770688528 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 67178722T> C null Y C 456 456 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1388232900 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q24.2 17 67178713C> T null R Q 459 459 missense 0.362 benign 0.05 tolerated 1 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1254619242 17q24.2 17 67178696A> G null Y H 465 465 missense 0.358 benign 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1214609662 17q24.2 17 67178686T> C null E G 468 468 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs946140012 17q24.2 17 67178684T> G null I L 469 469 missense 0.014 benign 0.19 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1259114784 17q24.2 17 67178674T> C null Y C 472 472 missense 0.865 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1428926792 17q24.2 17 67178669C> G null E Q 474 474 missense 0.024 benign 0.43 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1168246394 17q24.2 17 67178666T> A null I F 475 475 missense 0.866 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1303348724 17q24.2 17 67178664G> C null I M 475 475 missense 0.866 possibly damaging 0.04 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs755104634 17q24.2 17 67178665A> C null I S 475 475 missense 0.811 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs886598986 17q24.2 17 67178662C> A null S I 476 476 missense 0.661 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs886598986 17q24.2 17 67178662C> T null S N 476 476 missense 0.76 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1373708353 17q24.2 17 67178660T> C null K E 477 477 missense 0.306 benign 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1357962018 17q24.2 17 67167771T> A null I F 486 486 missense 0.048 benign 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain Ensembl rs866310390 17q24.2 17 67167765C> T null A T 488 488 missense 0.014 benign 0.93 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs772248030 17q24.2 17 67167755A> G null M T 491 491 missense 0.451 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,gnomAD rs562568826 17q24.2 17 67167756T> C null M V 491 491 2.0E-4 missense 0.035 benign 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1208821626 17q24.2 17 67167750T> C null T A 493 493 missense 0.063 benign 0.08 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1208821626 17q24.2 17 67167750T> G null T P 493 493 missense 0.795 possibly damaging 0.14 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1486661887 17q24.2 17 67167744C> T null V I 495 495 missense 0.014 benign 0.77 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1195690708 17q24.2 17 67167734C> T null G D 498 498 missense 0.942 probably damaging 0.03 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1337901885 17q24.2 17 67167725T> C null Y C 501 501 missense 0.459 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1229233876 17q24.2 17 67167717T> G null N H 504 504 missense 0.109 benign 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs754088701 17q24.2 17 67167708G> C null L V 507 507 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1414614907 17q24.2 17 67167704A> C null F C 508 508 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,NCI-TCGA,gnomAD rs550623891 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 67167699G> A null R C 510 510 2.0E-4 missense 0.872 possibly damaging 0.13 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,NCI-TCGA,gnomAD rs753228083 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q24.2 17 67167698C> T null R H 510 510 missense 0.835 possibly damaging 0.19 tolerated 1 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs753228083 17q24.2 17 67167698C> A null R L 510 510 missense 0.026 benign 0.45 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1169424417 17q24.2 17 67167687T> C null T A 514 514 missense 0.053 benign 0.55 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1000108037 17q24.2 17 67167671T> G null E A 519 519 missense 0.564 possibly damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1186018989 17q24.2 17 67167662A> G null L S 522 522 missense 0.024 benign 0.63 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,TOPMed,gnomAD rs759004240 17q24.2 17 67167659G> A null A V 523 523 missense 0.696 possibly damaging 0.01 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1258280006 17q24.2 17 67167653C> T null R Q 525 525 missense 0.338 benign 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs765954408 17q24.2 17 67167645T> C null M V 528 528 missense 0.046 benign 0.02 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ExAC,gnomAD rs112123052 17q24.2 17 67167632T> C null N S 532 532 missense 0.038 benign 0.28 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1272184826 17q24.2 17 67167627C> T null V I 534 534 missense 0.222 benign 0.06 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,TOPMed,gnomAD rs368487200 17q24.2 17 67167623T> C null Y C 535 535 missense 0.912 probably damaging 0.04 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1044755795 17q24.2 17 67167612C> A null V F 539 539 missense 0.009 benign 0.37 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1044755795 17q24.2 17 67167612C> G null V L 539 539 missense 0.005 benign 0.76 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1330741644 17q24.2 17 67167608G> T null P H 540 540 missense 0.374 benign 0.05 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1330741644 17q24.2 17 67167608G> A null P L 540 540 missense 0.006 benign 0.12 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1333910546 17q24.2 17 67167609G> A null P S 540 540 missense 0.005 benign 0.7 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1325126877 17q24.2 17 67167600T> G null K Q 543 543 missense 0.216 benign 0.17 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1393408962 17q24.2 17 67167597A> T null L I 544 544 missense 0.009 benign 0.36 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs911240296 17q24.2 17 67167587G> C null T S 547 547 missense 0.007 benign 0.92 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed,gnomAD rs1158067951 cosmic curated [Cosmic]: endometrium cosmic_study:419 17q24.2 17 67167571C> G null E D 552 552 missense 0.014 benign 0.05 tolerated 1 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ExAC,gnomAD rs542953469 17q24.2 17 67167573C> T null E K 552 552 2.0E-4 missense 0.165 benign 0.09 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs749192268 17q24.2 17 67167569T> A null K M 553 553 missense 0.148 benign 0.03 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1468609710 17q24.2 17 67167568C> G null K N 553 553 missense 0.131 benign 0.04 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs749192268 17q24.2 17 67167569T> C null K R 553 553 missense 0.028 benign 0.35 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain TOPMed rs1283459259 17q24.2 17 67167557G> C null A G 557 557 missense 0.143 benign 0.05 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201382980 17q24.2 17 67167558C> T null A T 557 557 2.0E-4 missense 0.933 probably damaging 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,gnomAD rs371525557 17q24.2 17 67167554G> A null T I 558 558 missense 0.007 benign 0.27 tolerated 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain gnomAD rs1251494093 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 17q24.2 17 67167552T> C null I V 559 559 missense 0.084 benign 0.14 tolerated 1 A0A075B6R3 HELZ Probable helicase with zinc finger domain ESP,ExAC,gnomAD rs368036616 17q24.2 17 67167542T> G null K T 562 562 missense 0.258 benign 0.0 deleterious 0 A0A075B6R3 HELZ Probable helicase with zinc finger domain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191184968 17q24.2 17 67167528T> C null I V 567 567 5.99E-4 missense 0.084 benign 0.05 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1286754473 Xp11.22 X 50198737C> A null D Y 6 6 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374162444 Xp11.22 X 50198728G> A null R C 9 9 missense 0.353 benign 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,NCI-TCGA,gnomAD rs782787477 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50198727C> T null R H 9 9 missense 0.0 benign 1.0 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782078614 Xp11.22 X 50198718C> T null R K 12 12 missense 0.931 probably damaging 0.46 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs781879602 Xp11.22 X 50198716C> A null G C 13 13 missense 0.754 possibly damaging 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782703558 Xp11.22 X 50198715C> A null G V 13 13 missense 0.448 possibly damaging 0.02 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,gnomAD rs782760962 Xp11.22 X 50198703A> G null V A 17 17 2.65E-4 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782424670 Xp11.22 X 50198701C> T null D N 18 18 missense 0.984 probably damaging 0.11 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs1569541827 Xp11.22 X 50198695A> T null Y N 20 20 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782114976 Xp11.22 X 50198689G> C null P A 22 22 missense 0.196 benign 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs200664210 Xp11.22 X 50198688G> A null P L 22 22 missense 0.444 benign 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782347135 Xp11.22 X 50198675T> G null Q H 26 26 missense 0.854 possibly damaging 0.05 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs782079722 Xp11.22 X 50198664C> T null R Q 30 30 2.65E-4 missense 0.007 benign 0.22 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204598 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50198665G> A null R W 30 30 missense 0.719 possibly damaging 0.09 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782258701 Xp11.22 X 50197584A> G null V A 36 36 missense 0.935 probably damaging 0.08 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782368036 Xp11.22 X 50197585C> G null V L 36 36 missense 0.935 probably damaging 0.01 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs149949899 Xp11.22 X 50197578A> G null V A 38 38 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs149949899 Xp11.22 X 50197578A> C null V G 38 38 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1426686733 Xp11.22 X 50197572G> T null T N 40 40 missense 0.5 possibly damaging 0.11 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC rs782588282 Xp11.22 X 50197566T> C null N S 42 42 missense 0.001 benign 0.11 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,NCI-TCGA,gnomAD rs782539418 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50197555T> C null K E 46 46 missense 0.956 probably damaging 0.05 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782299463 Xp11.22 X 50197550A> T null D E 47 47 missense 0.579 possibly damaging 0.03 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782299463 Xp11.22 X 50197550A> C null D E 47 47 missense 0.579 possibly damaging 0.03 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782633905 Xp11.22 X 50197546T> C null K E 49 49 missense 0.956 probably damaging 0.05 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782037617 Xp11.22 X 50196992C> T null D N 50 50 missense 0.143 benign 0.35 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204430 Xp11.22 X 50196991T> A null D V 50 50 missense 0.278 benign 0.13 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782376800 Xp11.22 X 50196989C> A null A S 51 51 missense 0.039 benign 0.14 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782376800 Xp11.22 X 50196989C> T null A T 51 51 missense 0.01 benign 0.13 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782273178 Xp11.22 X 50196988G> A null A V 51 51 missense 0.003 benign 0.07 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204427 Xp11.22 X 50196979G> T null S Y 54 54 missense 0.367 benign 0.01 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs139319738 Xp11.22 X 50196977T> A null S C 55 55 missense 0.0 benign 0.06 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782502960 Xp11.22 X 50196967C> T null G D 58 58 missense 0.003 benign 0.26 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782669322 Xp11.22 X 50196948A> T null S R 64 64 missense 0.025 benign 0.06 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,gnomAD rs190421799 Xp11.22 X 50196940T> C null E G 67 67 2.65E-4 missense 0.187 benign 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs146253420 Xp11.22 X 50196932T> A null I F 70 70 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs782456419 Xp11.22 X 50196926C> T null V M 72 72 7.95E-4 missense 0.027 benign 0.03 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,NCI-TCGA,gnomAD rs781841685 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xp11.22 X 50196906C> A null K N 78 78 missense 0.981 probably damaging 0.16 tolerated 1 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes rs200799849 Xp11.22 X 50196904T> A null K I 79 79 2.65E-4 missense 0.027 benign 0.06 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141721177 Xp11.22 X 50194433C> G null E Q 85 85 missense 0.968 probably damaging 0.07 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1480721983 Xp11.22 X 50194424C> G null V L 88 88 missense 0.258 benign 0.16 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1178437480 Xp11.22 X 50194419G> T null C * 89 89 stop gained 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204158 Xp11.22 X 50194420C> T null C Y 89 89 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373613057 Xp11.22 X 50194411T> C null K R 92 92 missense 0.956 probably damaging 0.01 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204157 Xp11.22 X 50194406C> T null A T 94 94 missense 0.003 benign 0.13 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204156 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50194399G> A null S F 96 96 missense 0.003 benign 0.05 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC rs781925771 Xp11.22 X 50194393G> A null P L 98 98 missense 0.108 benign 0.01 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139891326 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50194394G> A null P S 98 98 missense 0.08 benign 0.04 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204153 Xp11.22 X 50194379T> A null N Y 103 103 missense 0.001 benign 0.03 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC rs782396979 Xp11.22 X 50194374C> G null W C 104 104 missense 0.003 benign 0.01 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782284364 Xp11.22 X 50194367T> G null S R 107 107 missense 0.038 benign 0.19 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1431213419 Xp11.22 X 50194349C> A null A S 113 113 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204147 Xp11.22 X 50194346A> C null L V 114 114 missense 0.952 probably damaging 0.46 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204146 Xp11.22 X 50194334G> A null H Y 118 118 missense 0.255 benign 0.05 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782617887 Xp11.22 X 50194315G> A null T I 124 124 missense 0.018 benign 0.16 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed rs782214189 Xp11.22 X 50194316T> G null T P 124 124 missense 0.094 benign 0.26 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1444545985 Xp11.22 X 50194299A> T null H Q 129 129 missense 0.146 benign 0.22 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782433515 Xp11.22 X 50194294A> G null V A 131 131 missense 0.482 possibly damaging 0.26 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs781803764 Xp11.22 X 50194291C> T null G E 132 132 missense 0.018 benign 0.05 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204137 Xp11.22 X 50194288T> A null D V 133 133 missense 0.329 benign 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204135 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50194277C> T null E K 137 137 missense 0.0 benign 0.45 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1039253333 Xp11.22 X 50194273T> C null Y C 138 138 missense 0.0 benign 0.21 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782678573 Xp11.22 X 50194274A> G null Y H 138 138 missense 0.0 benign 0.44 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782546102 Xp11.22 X 50194264G> C null A G 141 141 missense 0.014 benign 0.34 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204134 Xp11.22 X 50194261_50194262insCAGT C null S * 142 142 stop gained 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1387903217 Xp11.22 X 50194262A> G null S P 142 142 missense 0.0 benign 1.0 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs377151498 Xp11.22 X 50194258G> T null S Y 143 143 missense 0.001 benign 0.36 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204131 Xp11.22 X 50194248G> T null C * 146 146 stop gained 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204129 Xp11.22 X 50194244T> C null S G 148 148 missense 0.099 benign 0.14 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs1569541779 Xp11.22 X 50194241C> A null V F 149 149 missense 0.169 benign 0.15 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147502980 Xp11.22 X 50194232C> T null D N 152 152 0.001589 missense 0.003 benign 0.15 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782092542 Xp11.22 X 50194229G> C null Q E 153 153 missense 0.0 benign 0.1 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1259032242 Xp11.22 X 50194225A> T null V E 154 154 missense 0.207 benign 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs112877454 Xp11.22 X 50194216T> C null D G 157 157 missense 0.757 possibly damaging 0.01 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782705223 Xp11.22 X 50194196G> T null Q K 164 164 missense 0.037 benign 0.2 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs1051466826 Xp11.22 X 50194190G> C null L V 166 166 missense 0.108 benign 0.15 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs782072348 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50194187G> A null R C 167 167 missense 0.0 benign 0.07 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201625510 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:452 Xp11.22 X 50194186C> T null R H 167 167 2.65E-4 missense 0.0 benign 1.0 tolerated 1 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs199717347 Xp11.22 X 50194169C> T null A T 173 173 2.65E-4 missense 0.14 benign 0.23 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs781947711 Xp11.22 X 50194166T> C null K E 174 174 missense 0.956 probably damaging 0.26 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs144059937 Xp11.22 X 50194163T> C null N D 175 175 missense 0.956 probably damaging 0.12 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1270988082 Xp11.22 X 50194160T> C null T A 176 176 missense 0.935 probably damaging 0.03 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204114 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 Xp11.22 X 50194141G> A null P L 182 182 missense 0.994 probably damaging 0.0 deleterious 1 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1198423526 Xp11.22 X 50194142G> T null P T 182 182 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1411917513 Xp11.22 X 50194130G> C null P A 186 186 missense 0.0 benign 0.39 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1354121852 Xp11.22 X 50194120G> A null P L 189 189 missense 0.025 benign 0.13 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs978525981 Xp11.22 X 50194121G> A null P S 189 189 missense 0.0 benign 1.0 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782584131 Xp11.22 X 50194118G> A null P S 190 190 missense 0.005 benign 0.14 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782403266 Xp11.22 X 50194105C> T null R K 194 194 missense 0.003 benign 0.36 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204106 Xp11.22 X 50194088C> T null D N 200 200 missense 0.146 benign 0.06 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1344178032 Xp11.22 X 50194084C> T null G E 201 201 missense 0.998 probably damaging 0.09 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1404875058 Xp11.22 X 50194080T> G null E D 202 202 missense 0.093 benign 0.06 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1279297748 Xp11.22 X 50194068A> T null D E 206 206 missense 0.952 probably damaging 0.04 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204102 Xp11.22 X 50194070C> T null D N 206 206 missense 0.977 probably damaging 0.03 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs368413352 Xp11.22 X 50194054T> G null Y S 211 211 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1293034315 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp11.22 X 50194052C> T null V I 212 212 missense 0.02 benign 0.15 tolerated 1 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed,gnomAD rs1306506603 Xp11.22 X 50194045C> T null R Q 214 214 missense 0.988 probably damaging 0.05 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204087 Xp11.22 X 50194031C> T null V I 219 219 missense 0.983 probably damaging 0.02 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) gnomAD rs1557204087 Xp11.22 X 50194031C> G null V L 219 219 missense 0.983 probably damaging 0.04 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782209570 Xp11.22 X 50194026G> C null I M 220 220 missense 0.951 probably damaging 0.1 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1293235251 Xp11.22 X 50194022T> A null M L 222 222 missense 0.768 possibly damaging 0.04 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs17174078 Xp11.22 X 50194015T> C null H R 224 224 0.001854 missense 0.0 benign 1.0 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl,NCI-TCGA rs147442985 cosmic curated [Cosmic]: endometrium, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21499247,cosmic_study:348,cosmic_study:419 Xp11.22 X 50194010C> T null E K 226 226 missense 0.01 benign 0.05 tolerated 1 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782447222 Xp11.22 X 50194000T> C null E G 229 229 missense 0.124 benign 0.04 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) Ensembl rs868937199 Xp11.22 X 50193973A> C null L R 238 238 missense 0.627 possibly damaging 0.01 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782799515 Xp11.22 X 50193968G> A null H Y 240 240 missense 0.576 possibly damaging 0.01 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782498639 Xp11.22 X 50193965A> G null S P 241 241 missense 0.604 possibly damaging 0.01 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs781864742 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50193958C> T null C Y 243 243 missense 0.0 benign 1.0 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782715262 Xp11.22 X 50193955G> A null P L 244 244 missense 0.007 benign 0.11 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782097609 Xp11.22 X 50193949G> A null P L 246 246 missense 0.046 benign 0.05 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) TOPMed rs1184512987 Xp11.22 X 50193946C> A null G V 247 247 missense 0.745 possibly damaging 0.0 deleterious 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,NCI-TCGA rs781918688 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.22 X 50193942G> T null N K 248 248 missense 0.018 benign 0.08 tolerated 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782654706 Xp11.22 X 50193932T> G null I L 252 252 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,TOPMed,gnomAD rs782654706 Xp11.22 X 50193932T> C null I V 252 252 missense 0.012 benign 0.06 tolerated - low confidence 0 A0A075B6R4 AKAP4 A-kinase anchor protein 4 (Fragment) ExAC,gnomAD rs782148058 Xp11.22 X 50193927A> T null S R 253 253 missense 0.726 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs760841342 1q32.2 1 210387501G> A null E K 2 2 missense 0.5 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1280659233 1q32.2 1 210387505G> A null W * 3 3 stop gained 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1195612827 1q32.2 1 210387513C> T null Q * 6 6 stop gained 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC rs754382840 1q32.2 1 210387514A> G null Q R 6 6 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs78052077 1q32.2 1 210387523T> A null V E 9 9 missense 0.086 benign 0.03 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs78052077 1q32.2 1 210387523T> G null V G 9 9 missense 0.001 benign 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1188728045 1q32.2 1 210387522G> T null V L 9 9 missense 0.0 benign 0.23 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC rs758785739 1q32.2 1 210387527G> T null W C 10 10 missense 0.924 probably damaging 0.11 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs753087963 1q32.2 1 210387525T> G null W G 10 10 missense 0.639 possibly damaging 0.97 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1473937850 1q32.2 1 210387528C> G null L V 11 11 missense 0.514 possibly damaging 0.02 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs777596666 1q32.2 1 210387531C> T null L F 12 12 missense 0.019 benign 0.26 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1373594134 1q32.2 1 210387545G> A null M I 16 16 missense 0.005 benign 0.33 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs746572782 1q32.2 1 210387544T> C null M T 16 16 missense 0.0 benign 0.02 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1475019815 1q32.2 1 210387546G> A null V I 17 17 missense 0.038 benign 0.21 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs756801763 1q32.2 1 210387550T> A null V E 18 18 missense 0.452 possibly damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1165981815 1q32.2 1 210387549G> A null V M 18 18 missense 0.629 possibly damaging 0.07 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl rs564172523 1q32.2 1 210387562C> T null A V 22 22 missense 0.881 possibly damaging 0.15 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl rs972448940 1q32.2 1 210387565C> T null T I 23 23 missense 0.009 benign 0.18 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs192652993 1q32.2 1 210387564A> C null T P 23 23 2.0E-4 missense 0.062 benign 0.39 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs769691809 1q32.2 1 210387576A> G null R G 27 27 missense 0.001 benign 0.56 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs1055755703 1q32.2 1 210404465G> C null R T 29 29 missense 0.872 possibly damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs764017113 1q32.2 1 210404476A> C null K Q 33 33 missense 0.003 benign 0.5 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs748514239 1q32.2 1 210404485A> G null N D 36 36 missense 0.057 benign 0.33 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl,dbSNP rs2228898 1q32.2 1 210404489A> G null E G 37 37 missense 0.967 probably damaging 0.09 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,NCI-TCGA,gnomAD rs374048677 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 1q32.2 1 210404488G> A null E K 37 37 missense 0.477 possibly damaging 0.09 tolerated 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs139483274 1q32.2 1 210404510C> T null T M 44 44 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl rs924597283 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q32.2 1 210404512C> A null L M 45 45 missense 0.577 possibly damaging 0.04 deleterious 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs747405504 1q32.2 1 210404516C> T null T I 46 46 missense 0.928 probably damaging 0.03 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1365991028 1q32.2 1 210404515A> T null T S 46 46 missense 0.314 benign 0.26 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs776159715 1q32.2 1 210404518G> A null V I 47 47 missense 0.865 possibly damaging 0.07 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs567439002 cosmic curated [Cosmic]: skin, [Cosmic]: large_intestine pubmed:22842228,cosmic_study:376,cosmic_study:511 1q32.2 1 210404521C> T null R C 48 48 0.001198 missense 0.263 benign 0.19 tolerated 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145435771 [NCI-TCGA]: Variant assessed as Somatic; impact. 1q32.2 1 210404522G> A null R H 48 48 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs145435771 1q32.2 1 210404522G> T null R L 48 48 missense 0.933 probably damaging 0.08 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs775030191 1q32.2 1 210404525G> A null C Y 49 49 missense 0.972 probably damaging 0.21 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1374615080 1q32.2 1 210404527C> G null L V 50 50 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ExAC,gnomAD rs535833711 1q32.2 1 210404531A> G null Y C 51 51 2.0E-4 missense 0.037 benign 0.17 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl rs948798126 1q32.2 1 210404530T> C null Y H 51 51 missense 0.109 benign 0.52 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs765901690 1q32.2 1 210404537C> T null T I 53 53 missense 0.268 benign 0.5 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs765901690 1q32.2 1 210404537C> A null T N 53 53 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2294851 pubmed:15489334 1q32.2 1 210404540G> A null S N 54 54 0.1234 missense 0.168 benign 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs200336367 1q32.2 1 210404541C> G null S R 54 54 missense 0.853 possibly damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1206506032 1q32.2 1 210404546G> T null S I 56 56 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs755225544 1q32.2 1 210404548C> G null L V 57 57 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34228541 pubmed:14702039 1q32.2 1 210404557T> C null C R 60 60 0.08087 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl rs2228897 1q32.2 1 210404563C> T null Q * 62 62 stop gained 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs955610159 1q32.2 1 210404570T> C null L P 64 64 missense 0.001 benign 0.23 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs758432747 1q32.2 1 210404573C> T null P L 65 65 missense 0.046 benign 0.14 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs758432747 1q32.2 1 210404573C> G null P R 65 65 missense 0.043 benign 0.24 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,NCI-TCGA,TOPMed,gnomAD rs376601925 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 1q32.2 1 210404582C> T null S L 68 68 missense 0.007 benign 0.26 tolerated 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1327760185 1q32.2 1 210404584A> C null T P 69 69 missense 0.001 benign 0.38 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs747455697 1q32.2 1 210404591A> G null Y C 71 71 missense 0.232 benign 0.09 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,NCI-TCGA,gnomAD rs781614202 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.2 1 210404594C> T null S F 72 72 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs771340497 1q32.2 1 210404593T> C null S P 72 72 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1219742764 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.2 1 210404599C> T null P S 74 74 missense 0.033 benign 0.38 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl rs769770820 1q32.2 1 210404605A> C null M L 76 76 missense 0.001 benign 1.0 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs1234274214 1q32.2 1 210404611G> A null A T 78 78 missense 0.009 benign 0.1 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs1176162825 cosmic curated [Cosmic]: prostate pubmed:22722839,cosmic_study:391 1q32.2 1 210404615A> G null Y C 79 79 missense 0.989 probably damaging 0.0 deleterious 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1393561796 1q32.2 1 210404622T> G null F L 81 81 missense 0.335 benign 0.05 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs769462211 [NCI-TCGA]: Variant assessed as Somatic; impact. 1q32.2 1 210404621T> A null F Y 81 81 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs774960950 1q32.2 1 210404624A> G null Y C 82 82 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1459691356 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.2 1 210404623T> C null Y H 82 82 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs774960950 1q32.2 1 210404624A> C null Y S 82 82 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1165960690 1q32.2 1 210404626T> C null Y H 83 83 missense 0.381 benign 0.31 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs768217049 1q32.2 1 210404630C> T null P L 84 84 missense 1.0 probably damaging 0.05 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1443167558 1q32.2 1 210404639A> G null H R 87 87 missense 0.34 benign 0.09 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs1048728289 1q32.2 1 210404642A> G null N S 88 88 missense 0.553 possibly damaging 0.12 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs147320835 1q32.2 1 210404659T> C null F L 94 94 missense 0.022 benign 0.03 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs767486877 1q32.2 1 210404663C> T null S L 95 95 missense 0.01 benign 0.26 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs965938188 1q32.2 1 210404667G> C null E D 96 96 missense 0.0 benign 0.35 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs750203730 1q32.2 1 210404668T> G null F V 97 97 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1328074882 1q32.2 1 210404675A> G null K R 99 99 missense 0.003 benign 0.27 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1203362333 1q32.2 1 210404678A> G null Q R 100 100 missense 0.828 possibly damaging 0.04 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs1394872962 1q32.2 1 210418154A> T null M L 101 101 missense 0.01 benign 0.04 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs749015922 1q32.2 1 210418160C> T null Q * 103 103 stop gained 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs749015922 1q32.2 1 210418160C> G null Q E 103 103 missense 0.08 benign 0.33 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs749015922 1q32.2 1 210418160C> A null Q K 103 103 missense 0.011 benign 0.41 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs778617403 1q32.2 1 210418161A> C null Q P 103 103 missense 0.006 benign 0.13 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1231520076 1q32.2 1 210418169C> T null H Y 106 106 missense 0.0 benign 1.0 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,NCI-TCGA rs771415014 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:21720365,cosmic_study:331 1q32.2 1 210418172G> A null D N 107 107 missense 0.0 benign 0.38 tolerated 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs773212620 1q32.2 1 210418176C> T null S F 108 108 missense 0.683 possibly damaging 0.18 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs746907598 1q32.2 1 210418178C> A null L M 109 109 missense 0.878 possibly damaging 0.18 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376960795 1q32.2 1 210418191T> A null L Q 113 113 5.99E-4 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs200438732 1q32.2 1 210418193T> G null C G 114 114 missense 0.0 benign 0.34 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs200438732 cosmic curated [Cosmic]: breast pubmed:22495314,cosmic_study:384 1q32.2 1 210418193T> C null C R 114 114 missense 0.0 benign 0.35 tolerated 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,gnomAD rs374579980 1q32.2 1 210418194G> A null C Y 114 114 missense 0.416 benign 1.0 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1284891579 1q32.2 1 210418197T> C null V A 115 115 missense 0.003 benign 0.69 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs764319347 1q32.2 1 210418203C> A null A D 117 117 missense 0.255 benign 0.15 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs764319347 1q32.2 1 210418203C> G null A G 117 117 missense 0.003 benign 0.28 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs764319347 1q32.2 1 210418203C> T null A V 117 117 missense 0.001 benign 0.95 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs767440738 1q32.2 1 210418208G> A null G R 119 119 missense 0.406 benign 0.22 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,TOPMed rs368531187 1q32.2 1 210418214G> A null G S 121 121 missense 0.044 benign 0.31 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs766891856 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q32.2 1 210418217C> T null R C 122 122 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs148639278 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.2 1 210418218G> A null R H 122 122 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs148639278 1q32.2 1 210418218G> C null R P 122 122 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl rs1558477308 1q32.2 1 210418226T> A null C S 125 125 missense 0.02 benign 0.12 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs987044311 1q32.2 1 210418231G> A null W * 126 126 stop gained 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs778740258 1q32.2 1 210418230G> C null W S 126 126 missense 0.084 benign 0.02 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1021644358 1q32.2 1 210418233G> A null W * 127 127 stop gained 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1021644358 1q32.2 1 210418233G> T null W L 127 127 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,gnomAD rs372024732 1q32.2 1 210418237G> A null W * 128 128 stop gained 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs747743664 1q32.2 1 210418241G> A null A T 130 130 missense 0.453 possibly damaging 0.07 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs757984265 1q32.2 1 210418242C> T null A V 130 130 missense 0.21 benign 0.14 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,NCI-TCGA,gnomAD rs770748303 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 1q32.2 1 210418244G> A null E K 131 131 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ExAC,gnomAD rs576213719 1q32.2 1 210418258C> A null H Q 135 135 9.98E-4 missense 0.971 probably damaging 0.05 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs745691529 1q32.2 1 210418259C> A null L M 136 136 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs769514962 1q32.2 1 210418260T> C null L P 136 136 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs375086953 1q32.2 1 210418262A> G null M V 137 137 missense 0.519 possibly damaging 0.08 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ExAC,gnomAD rs543648313 1q32.2 1 210418265T> G null Y D 138 138 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ExAC,gnomAD rs543648313 1q32.2 1 210418265T> A null Y N 138 138 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs767706148 1q32.2 1 210418270G> T null M I 139 139 missense 0.0 benign 0.33 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl rs531101409 1q32.2 1 210418273T> A null H Q 140 140 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl rs2294849 1q32.2 1 210418275C> A null A D 141 141 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl rs935791483 1q32.2 1 210418274G> A null A T 141 141 missense 0.981 probably damaging 0.03 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1274887070 1q32.2 1 210418277A> T null I F 142 142 missense 0.026 benign 0.14 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs1468755372 1q32.2 1 210418281A> G null Y C 143 143 missense 0.015 benign 0.26 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1408361995 [NCI-TCGA]: Variant assessed as Somatic; impact. 1q32.2 1 210418287G> A null S N 145 145 missense 0.114 benign 0.48 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs761293868 1q32.2 1 210418295C> A null L I 148 148 missense 0.111 benign 0.27 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs761293868 1q32.2 1 210418295C> G null L V 148 148 missense 0.111 benign 0.09 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ExAC,gnomAD rs561841936 1q32.2 1 210418303G> C null E D 150 150 3.99E-4 missense 0.292 benign 0.06 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ExAC,gnomAD rs561841936 1q32.2 1 210418303G> T null E D 150 150 3.99E-4 missense 0.292 benign 0.06 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs754359000 1q32.2 1 210418314G> T null C F 154 154 missense 0.044 benign 0.62 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs754359000 1q32.2 1 210418314G> C null C S 154 154 missense 0.0 benign 0.58 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1310390993 1q32.2 1 210464507G> T null G * 159 159 stop gained 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1173716957 1q32.2 1 210464508G> T null G V 159 159 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1435982918 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 1q32.2 1 210464510C> G null L V 160 160 missense 0.41 benign 0.01 deleterious 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs192286679 1q32.2 1 210464514C> T null A V 161 161 3.99E-4 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1475643148 1q32.2 1 210464523A> G null Q R 164 164 missense 0.719 possibly damaging 0.06 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1243613343 1q32.2 1 210464526T> A null V E 165 165 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) Ensembl rs1008531376 1q32.2 1 210464528C> A null L I 166 166 missense 0.718 possibly damaging 0.18 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1018558976 1q32.2 1 210464532T> C null F S 167 167 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1341668706 1q32.2 1 210464536C> G null F L 168 168 missense 0.93 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1487919886 1q32.2 1 210464538A> G null Y C 169 169 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs967141075 [NCI-TCGA]: Variant assessed as Somatic; impact. 1q32.2 1 210464540G> A null V M 170 170 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs144173927 1q32.2 1 210464543A> C null K Q 171 171 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1181785857 1q32.2 1 210464544A> C null K T 171 171 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs541167454 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 1q32.2 1 210464547A> G null Y C 172 172 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs756776629 1q32.2 1 210464546T> C null Y H 172 172 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed rs780669166 1q32.2 1 210464553T> C null V A 174 174 missense 0.463 possibly damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1389201461 1q32.2 1 210464555C> T null L F 175 175 missense 0.841 possibly damaging 0.06 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs779948186 1q32.2 1 210464564G> T null V L 178 178 missense 0.013 benign 0.51 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs779948186 1q32.2 1 210464564G> A null V M 178 178 missense 0.626 possibly damaging 0.01 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs749060244 1q32.2 1 210464568C> T null P L 179 179 missense 0.577 possibly damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1296554350 1q32.2 1 210464577T> C null L P 182 182 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs200901586 1q32.2 1 210464580T> C null M T 183 183 2.0E-4 missense 0.288 benign 0.03 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs777865030 1q32.2 1 210464582C> T null R C 184 184 missense 0.912 probably damaging 0.01 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34362403 1q32.2 1 210464583G> A null R H 184 184 0.004593 missense 0.063 benign 0.15 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs777865030 1q32.2 1 210464582C> A null R S 184 184 missense 0.495 possibly damaging 0.06 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs1209434701 1q32.2 1 210464590T> A null D E 186 186 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1463422784 1q32.2 1 210464588G> A null D N 186 186 missense 0.936 probably damaging 0.04 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs1254789301 1q32.2 1 210464597A> G null T A 189 189 missense 0.034 benign 0.62 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs771201072 1q32.2 1 210464598C> T null T I 189 189 missense 0.048 benign 0.15 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1026211141 1q32.2 1 210464601C> T null P L 190 190 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,gnomAD rs770442814 1q32.2 1 210464603C> T null P S 191 191 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs143700139 1q32.2 1 210464606G> C null A P 192 192 missense 0.0 benign 1.0 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs143700139 1q32.2 1 210464606G> T null A S 192 192 missense 0.189 benign 0.05 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143700139 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 1q32.2 1 210464606G> A null A T 192 192 missense 0.019 benign 0.11 tolerated 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ExAC,gnomAD rs534915659 1q32.2 1 210464609C> T null L F 193 193 0.001398 missense 0.903 possibly damaging 0.06 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs761454249 1q32.2 1 210464613C> T null P L 194 194 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs773936014 1q32.2 1 210464612C> T null P S 194 194 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs146916002 cosmic curated [Cosmic]: central_nervous_system pubmed:21817013,cosmic_study:354 1q32.2 1 210464615C> T null R C 195 195 missense 0.606 possibly damaging 0.07 tolerated 1 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs749916241 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.2 1 210464616G> A null R H 195 195 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs146916002 1q32.2 1 210464615C> A null R S 195 195 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs766259679 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.2 1 210464621G> A null V M 197 197 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1310979158 1q32.2 1 210464625G> A null S N 198 198 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1305915605 1q32.2 1 210464624A> C null S R 198 198 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,NCI-TCGA,gnomAD rs753743106 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.2 1 210464627A> G null T A 199 199 missense 0.437 benign 0.28 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ESP,ExAC,TOPMed,gnomAD rs369156629 1q32.2 1 210464632G> A null M I 200 200 missense 0.315 benign 0.01 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1319305222 1q32.2 1 210464636A> G null S G 202 202 missense 0.367 benign 0.05 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs778762203 1q32.2 1 210464637G> A null S N 202 202 missense 0.615 possibly damaging 0.05 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) ExAC,TOPMed,gnomAD rs778762203 1q32.2 1 210464637G> C null S T 202 202 missense 0.962 probably damaging 0.11 tolerated 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) gnomAD rs1267974210 1q32.2 1 210464643C> T null T I 204 204 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61744143 1q32.2 1 210464645G> A null G R 205 205 0.009385 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed rs1418277029 1q32.2 1 210464649T> A null M K 206 206 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs1477472411 1q32.2 1 210464648A> T null M L 206 206 missense 0.869 possibly damaging 0.01 deleterious 0 A0A075B6R5 HHAT Protein-cysteine N-palmitoyltransferase HHAT (Fragment) TOPMed,gnomAD rs1477472411 1q32.2 1 210464648A> G null M V 206 206 missense 0.869 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1295306050 9p23 9 13136173A> T null D E 3 3 missense 0.007 benign 0.2 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1324386810 9p23 9 13136174T> C null D G 3 3 missense 0.478 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs752864103 9p23 9 13136171G> C null A G 4 4 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs752864103 9p23 9 13136171G> A null A V 4 4 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs931106596 9p23 9 13136168A> G null V A 5 5 missense 0.113 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs931106596 9p23 9 13136168A> T null V E 5 5 missense 0.541 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs377587728 9p23 9 13136165T> C null N S 6 6 missense 0.0 benign 0.36 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs759780662 9p23 9 13136158C> T null M I 8 8 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs750164135 9p23 9 13136157C> A null A S 9 9 missense 0.571 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs750164135 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13136157C> T null A T 9 9 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs762328570 9p23 9 13136153A> G null V A 10 10 missense 0.122 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs535598404 9p23 9 13136154C> T null V I 10 10 2.0E-4 missense 0.083 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs535598404 9p23 9 13136154C> A null V L 10 10 2.0E-4 missense 0.557 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs535598404 9p23 9 13136154C> G null V L 10 10 2.0E-4 missense 0.557 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1563875718 9p23 9 13136151A> G null C R 11 11 missense 0.278 benign 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1305451081 9p23 9 13136148G> C null P A 12 12 missense 0.218 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs576313246 9p23 9 13136147G> A null P L 12 12 5.99E-4 missense 0.138 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs576313246 9p23 9 13136147G> C null P R 12 12 5.99E-4 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1197196636 9p23 9 13136138G> C null A G 15 15 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199678230 9p23 9 13136139C> G null A P 15 15 2.0E-4 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs745519525 9p23 9 13136136C> T null V I 16 16 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs745519525 9p23 9 13136136C> G null V L 16 16 missense 0.003 benign 0.16 tolerated - low confidence 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs371422986 9p23 9 13136124G> C null P A 20 20 missense 0.006 benign 0.23 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1228548160 9p23 9 13136123G> T null P H 20 20 missense 0.635 possibly damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1420418437 9p23 9 13136120G> T null S Y 21 21 missense 0.007 benign 0.1 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs778981657 9p23 9 13136112C> G null E Q 24 24 missense 0.054 benign 0.23 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1477057843 9p23 9 13136108T> C null N S 25 25 missense 0.001 benign 0.72 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1266709240 9p23 9 13136103G> C null Q E 27 27 missense 0.003 benign 0.27 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs755131580 9p23 9 13136100T> G null N H 28 28 missense 0.0 benign 0.52 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs767920289 9p23 9 13136097T> C null K E 29 29 missense 0.001 benign 0.2 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs766650065 cosmic curated [Cosmic]: kidney pubmed:23797736,cosmic_study:494 9p23 9 13136095C> G null K N 29 29 missense 0.003 benign 0.25 tolerated 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1375798424 9p23 9 13136094C> T null E K 30 30 missense 0.001 benign 0.08 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,gnomAD rs551565201 9p23 9 13133903G> A null T I 31 31 2.0E-4 missense 0.001 benign 0.46 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,gnomAD rs551565201 9p23 9 13133903G> C null T R 31 31 2.0E-4 missense 0.058 benign 0.35 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1443386605 9p23 9 13133901C> T null E K 32 32 missense 0.024 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,gnomAD rs528622624 9p23 9 13133898G> C null P A 33 33 2.0E-4 missense 0.003 benign 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1203912218 9p23 9 13133894G> A null T I 34 34 missense 0.003 benign 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1203912218 9p23 9 13133894G> C null T S 34 34 missense 0.0 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1350662209 9p23 9 13133892C> T null V I 35 35 missense 0.003 benign 0.2 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs765313224 9p23 9 13133888G> C null T S 36 36 missense 0.003 benign 0.38 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs753428524 9p23 9 13133886T> C null T A 37 37 missense 0.003 benign 0.56 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs753428524 9p23 9 13133886T> G null T P 37 37 missense 0.0 benign 0.14 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1314657380 9p23 9 13133882G> C null S C 38 38 missense 0.006 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs193284839 9p23 9 13133879T> C null D G 39 39 5.99E-4 missense 0.0 benign 0.22 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,gnomAD rs200642270 9p23 9 13133876G> A null A V 40 40 2.0E-4 missense 0.006 benign 0.13 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201277979 9p23 9 13133867T> A null D V 43 43 9.98E-4 missense 0.19 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs762227915 9p23 9 13133865G> C null L V 44 44 missense 0.0 benign 0.17 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs188770909 9p23 9 13133862T> G null S R 45 45 0.001198 missense 0.001 benign 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1355368723 9p23 9 13133858G> C null S * 46 46 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1473297522 9p23 9 13133843T> C null Q R 51 51 missense 0.0 benign 0.15 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1239566087 9p23 9 13133841G> A null H Y 52 52 missense 0.0 benign 0.24 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1416484944 9p23 9 13133837A> C null L R 53 53 missense 0.373 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed rs747901202 9p23 9 13126770A> C null D E 58 58 missense 0.044 benign 0.12 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs201889446 9p23 9 13126772C> A null D Y 58 58 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1563855037 9p23 9 13126767C> G null Q H 59 59 missense 0.628 possibly damaging 0.24 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs778866776 9p23 9 13126765C> T null G E 60 60 missense 0.792 possibly damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,TOPMed,gnomAD rs376550385 9p23 9 13126766C> T null G R 60 60 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs868092432 9p23 9 13126762C> T null G D 61 61 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1436637752 9p23 9 13126763C> T null G S 61 61 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs868092432 9p23 9 13126762C> A null G V 61 61 missense 0.473 possibly damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs754898618 9p23 9 13126758C> G null L F 62 62 missense 0.136 benign 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1167924208 9p23 9 13126759A> C null L W 62 62 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs753824460 9p23 9 13126756C> G null G A 63 63 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs753824460 9p23 9 13126756C> T null G D 63 63 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs750132506 9p23 9 13126757C> T null G S 63 63 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,gnomAD rs372764326 9p23 9 13126753A> G null I T 64 64 missense 0.606 possibly damaging 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1020686334 9p23 9 13126754T> C null I V 64 64 missense 0.029 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs755632555 9p23 9 13126750G> C null A G 65 65 missense 0.216 benign 0.05 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs749945198 9p23 9 13126748T> C null I V 66 66 missense 0.006 benign 0.05 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1191820589 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 9p23 9 13126745T> C null S G 67 67 missense 0.003 benign 0.14 tolerated 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs767162124 9p23 9 13126744C> T null S N 67 67 missense 0.101 benign 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199737503 9p23 9 13126740T> A null E D 68 68 2.0E-4 missense 0.09 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1204108685 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13126742C> T null E K 68 68 missense 0.874 possibly damaging 0.33 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1258463749 9p23 9 13126739C> T null E K 69 69 missense 0.229 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs940236688 9p23 9 13126735T> C null D G 70 70 missense 0.007 benign 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs529002777 9p23 9 13126736C> G null D H 70 70 missense 0.587 possibly damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1470740961 9p23 9 13126733T> C null T A 71 71 missense 0.594 possibly damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs910133860 9p23 9 13126726C> T null S N 73 73 missense 0.0 benign 0.64 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1426030898 9p23 9 13126716G> C null I M 76 76 missense 0.003 benign 0.08 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,gnomAD rs559458534 9p23 9 13126718T> C null I V 76 76 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1163669825 9p23 9 13126714A> T null I K 77 77 missense 0.306 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs747239643 9p23 9 13126713T> C null I M 77 77 missense 0.07 benign 0.12 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1235859778 9p23 9 13126712T> G null K Q 78 78 missense 0.003 benign 0.23 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1309539008 9p23 9 13126709T> A null S C 79 79 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs768557926 9p23 9 13126699T> C null E G 82 82 missense 0.447 possibly damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs757220989 9p23 9 13126700C> G null E Q 82 82 missense 0.533 possibly damaging 0.16 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1429140971 9p23 9 13126693C> G null G A 84 84 missense 0.059 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1429140971 9p23 9 13126693C> T null G E 84 84 missense 0.092 benign 0.14 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs749089866 9p23 9 13126687G> A null A V 86 86 missense 0.022 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs367819537 9p23 9 13126684G> A null A V 87 87 missense 0.099 benign 0.08 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,dbSNP,gnomAD rs200727071 9p23 9 13126681G> A null T M 88 88 missense 0.0 benign 0.05 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs781161993 9p23 9 13126589T> G null D A 89 89 missense 0.419 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs199839402 9p23 9 13126590C> G null D H 89 89 missense 0.866 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs199839402 9p23 9 13126590C> A null D Y 89 89 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP rs375243457 9p23 9 13126586C> G null G A 90 90 missense 0.737 possibly damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1298155335 9p23 9 13126587C> T null G R 90 90 missense 0.903 possibly damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs372104310 9p23 9 13126584G> A null R * 91 91 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs372104310 9p23 9 13126584G> C null R G 91 91 missense 0.003 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1362557651 9p23 9 13126583C> T null R Q 91 91 missense 0.007 benign 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1244522963 9p23 9 13126580A> C null L R 92 92 missense 0.556 possibly damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1161810958 9p23 9 13126574A> G null V A 94 94 missense 0.0 benign 0.16 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs758008321 [NCI-TCGA]: Variant assessed as Somatic; impact. 9p23 9 13126572C> T null G R 95 95 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1298870097 9p23 9 13126568T> C null D G 96 96 missense 0.015 benign 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs979272417 9p23 9 13126569C> G null D H 96 96 missense 0.023 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs979272417 9p23 9 13126569C> T null D N 96 96 missense 0.015 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1464009406 9p23 9 13126561T> C null I M 98 98 missense 0.147 benign 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1563853900 9p23 9 13126562A> G null I T 98 98 missense 0.075 benign 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1425355872 9p23 9 13126560G> T null L M 99 99 missense 0.464 possibly damaging 0.05 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs79029910 9p23 9 13126553A> C null V G 101 101 missense 0.653 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1259523210 9p23 9 13126554C> T null V I 101 101 missense 0.02 benign 0.48 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1477401226 9p23 9 13126547T> C null D G 103 103 missense 0.01 benign 0.24 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs753045879 9p23 9 13126548C> T null D N 103 103 missense 0.025 benign 0.59 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs967838460 9p23 9 13126541A> T null I N 105 105 missense 0.007 benign 0.22 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1488298588 9p23 9 13126539C> A null V F 106 106 missense 0.789 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1264702193 9p23 9 13126536C> G null V L 107 107 missense 0.0 benign 0.63 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs867167693 9p23 9 13126533C> A null G C 108 108 missense 0.11 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs779148372 9p23 9 13126532C> T null G D 108 108 missense 0.625 possibly damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs755439864 9p23 9 13126527G> C null P A 110 110 missense 0.341 benign 0.05 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs760810125 9p23 9 13126522A> C null I M 111 111 missense 0.037 benign 0.19 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs564441634 9p23 9 13126523A> G null I T 111 111 2.0E-4 missense 0.007 benign 0.35 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs375444144 9p23 9 13126524T> C null I V 111 111 missense 0.0 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs750567022 9p23 9 13126520T> G null E A 112 112 missense 0.442 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs750567022 9p23 9 13126520T> A null E V 112 112 missense 0.697 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs767801668 9p23 9 13126516C> A null K N 113 113 missense 0.544 possibly damaging 0.56 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1401133162 9p23 9 13126517T> C null K R 113 113 missense 0.04 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1449867031 9p23 9 13125387T> C null I V 115 115 missense 0.001 benign 0.33 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs369732746 9p23 9 13125378G> C null L V 118 118 missense 0.677 possibly damaging 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs776432262 9p23 9 13125371G> A null T I 120 120 missense 0.001 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1200460057 9p23 9 13125369C> T null A T 121 121 missense 0.001 benign 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1226310949 9p23 9 13125364C> A null K N 122 122 missense 0.003 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1437398567 9p23 9 13125365T> C null K R 122 122 missense 0.001 benign 0.13 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs770797038 9p23 9 13125363T> C null M V 123 123 missense 0.0 benign 0.08 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs773198896 9p23 9 13125356A> G null V A 125 125 missense 0.176 benign 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs771471889 9p23 9 13125348T> C null T A 128 128 missense 0.015 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs375939424 9p23 9 13125347G> A null T I 128 128 missense 0.415 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs375939424 9p23 9 13125347G> T null T N 128 128 missense 0.415 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs375939424 9p23 9 13125347G> C null T S 128 128 missense 0.015 benign 0.17 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1376377662 9p23 9 13125341T> C null H R 130 130 missense 0.0 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1237037927 9p23 9 13125342G> A null H Y 130 130 missense 0.018 benign 0.59 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1310307733 cosmic curated [Cosmic]: pancreas cosmic_study:328 9p23 9 13125338G> A null A V 131 131 missense 0.031 benign 0.38 tolerated 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs556573256 9p23 9 13125332T> C null N S 133 133 missense 0.005 benign 0.54 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs749624939 9p23 9 13125327C> T null D N 135 135 missense 0.023 benign 0.24 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs749624939 9p23 9 13125327C> A null D Y 135 135 missense 0.816 possibly damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs756626342 9p23 9 13125323G> C null S C 136 136 missense 0.009 benign 0.08 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs756626342 9p23 9 13125323G> A null S F 136 136 missense 0.009 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs746360632 9p23 9 13125321G> A null Q * 137 137 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs746360632 9p23 9 13125321G> T null Q K 137 137 missense 0.072 benign 0.33 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs781746056 9p23 9 13125318C> G null A P 138 138 missense 0.003 benign 0.25 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1371538255 9p23 9 13125309A> C null S A 141 141 missense 0.006 benign 0.33 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1417341504 9p23 9 13125302G> C null A G 143 143 missense 0.112 benign 0.27 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1476608092 9p23 9 13125294C> A null A S 146 146 missense 0.0 benign 0.71 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1441866699 9p23 9 13125287C> G null G A 148 148 missense 0.0 benign 0.2 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1441866699 9p23 9 13125287C> A null G V 148 148 missense 0.0 benign 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1236073393 9p23 9 13125276T> C null N D 152 152 missense 0.001 benign 0.41 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs764173232 9p23 9 13125275T> C null N S 152 152 missense 0.0 benign 0.93 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs758632247 9p23 9 13125273T> C null S G 153 153 missense 0.015 benign 0.33 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs898927501 9p23 9 13125272C> T null S N 153 153 missense 0.023 benign 0.25 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs766156632 9p23 9 13125263G> C null S C 156 156 missense 0.598 possibly damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1188859874 9p23 9 13125264A> T null S T 156 156 missense 0.003 benign 0.15 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs760522883 9p23 9 13125260A> G null L P 157 157 missense 0.0 benign 0.5 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1286942414 9p23 9 13125256C> T null M I 158 158 missense 0.0 benign 0.41 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1486488017 9p23 9 13125255C> A null V F 159 159 missense 0.0 benign 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1406255544 9p23 9 13125249G> C null Q E 161 161 missense 0.0 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1380945913 9p23 9 13125248T> A null Q L 161 161 missense 0.0 benign 0.63 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs767530465 9p23 9 13125242C> T null G D 163 163 missense 0.003 benign 0.32 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1381131917 9p23 9 13125240A> C null S A 164 164 missense 0.021 benign 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1447073507 9p23 9 13125239G> A null S F 164 164 missense 0.785 possibly damaging 0.11 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1336122098 9p23 9 13125236G> A null P L 165 165 missense 0.087 benign 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs919987668 9p23 9 13125232T> G null E D 166 166 missense 0.006 benign 0.3 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs773938535 9p23 9 13125230G> A null P L 167 167 missense 0.001 benign 0.05 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs773938535 9p23 9 13125230G> C null P R 167 167 missense 0.121 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs748956256 9p23 9 13125226C> G null E D 168 168 missense 0.023 benign 0.18 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs775352642 9p23 9 13125220G> C null I M 170 170 missense 0.003 benign 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs770258839 9p23 9 13125219G> A null R * 171 171 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs770258839 9p23 9 13125219G> C null R G 171 171 missense 0.01 benign 0.13 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs372204991 9p23 9 13125218C> G null R P 171 171 missense 0.001 benign 0.25 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372204991 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 9p23 9 13125218C> T null R Q 171 171 missense 0.32 benign 0.17 tolerated 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16930134 9p23 9 13123296T> C null T A 173 173 0.01857 missense 0.0 benign 0.21 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1367171150 9p23 9 13123295G> A null T I 173 173 missense 0.012 benign 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1247685463 9p23 9 13123293T> C null S G 174 174 missense 0.997 probably damaging 0.16 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1364891219 9p23 9 13123291G> T null S R 174 174 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1364891219 9p23 9 13123291G> C null S R 174 174 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1273789648 9p23 9 13123288T> A null R S 175 175 missense 0.948 probably damaging 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs781048567 9p23 9 13123286G> A null S L 176 176 missense 0.658 possibly damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC rs751504836 9p23 9 13123281T> G null T P 178 178 missense 0.722 possibly damaging 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1329695195 9p23 9 13123277G> A null P L 179 179 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1465457337 9p23 9 13123274G> T null A E 180 180 missense 0.544 possibly damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1173465561 9p23 9 13123270A> C null I M 181 181 missense 0.0 benign 0.27 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs764164095 9p23 9 13123272T> C null I V 181 181 missense 0.0 benign 0.89 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1563846022 9p23 9 13123262G> A null S F 184 184 missense 0.283 benign 0.33 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1424536726 9p23 9 13123263A> G null S P 184 184 missense 0.014 benign 0.24 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1479112051 9p23 9 13123256G> A null P L 186 186 missense 0.192 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1191915282 9p23 9 13123257G> A null P S 186 186 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs759120063 9p23 9 13123254C> T null A T 187 187 missense 0.003 benign 0.15 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1563845972 9p23 9 13123253G> A null A V 187 187 missense 0.003 benign 0.08 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs762508950 9p23 9 13123251T> C null T A 188 188 missense 0.015 benign 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs752274572 9p23 9 13123250G> T null T N 188 188 missense 0.415 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs762508950 9p23 9 13123251T> G null T P 188 188 missense 0.579 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs762508950 9p23 9 13123251T> A null T S 188 188 missense 0.041 benign 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs752274572 9p23 9 13123250G> C null T S 188 188 missense 0.041 benign 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs926666803 9p23 9 13123246G> C null C W 189 189 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs759229967 9p23 9 13123244G> A null P L 190 190 missense 0.192 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs759229967 9p23 9 13123244G> C null P R 190 190 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs747548775 9p23 9 13123242T> C null I V 191 191 missense 0.228 benign 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1219352819 9p23 9 13123236G> T null P T 193 193 missense 0.821 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1012254834 9p23 9 13123232C> T null G D 194 194 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs760993873 9p23 9 13123230A> G null C R 195 195 missense 0.059 benign 0.84 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs772598863 9p23 9 13123227C> T null E K 196 196 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1464981734 9p23 9 13123217A> G null I T 199 199 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs748178719 9p23 9 13123218T> C null I V 199 199 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs768803387 9p23 9 13123215C> A null E * 200 200 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs768803387 9p23 9 13123215C> T null E K 200 200 missense 0.343 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs61753785 9p23 9 13123212T> C null I V 201 201 missense 0.038 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs780202118 9p23 9 13123206T> C null K E 203 203 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1440609663 9p23 9 13123204T> G null K N 203 203 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1307530506 9p23 9 13123205T> C null K R 203 203 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) NCI-TCGA,TOPMed,dbSNP,gnomAD rs797045095 [ClinVar]: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, [NCI-TCGA]: Variant assessed as Somatic; impact. 9p23 9 13123200G> A null R * 205 205 stop gained 0 Hydrocephalus, congenital, 2, with or without brain or eye anomalies (HYC2) MIM:615219 ClinVar:RCV000190604 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,NCI-TCGA,gnomAD rs757042894 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13123199C> T null R Q 205 205 missense 0.028 benign 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs751337843 9p23 9 13123197T> C null T A 206 206 missense 0.827 possibly damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs758420986 9p23 9 13123187C> G null G A 209 209 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs758420986 9p23 9 13123187C> T null G D 209 209 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1349430229 9p23 9 13123188C> T null G S 209 209 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1041567464 9p23 9 13123184A> G null L P 210 210 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1195748380 9p23 9 13123179T> A null I F 212 212 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1410554182 9p23 9 13123175A> G null V A 213 213 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs764834512 9p23 9 13123176C> A null V F 213 213 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,NCI-TCGA,gnomAD rs764834512 [NCI-TCGA]: Variant assessed as Somatic; impact. 9p23 9 13123176C> T null V I 213 213 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs764834512 9p23 9 13123176C> G null V L 213 213 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1357575894 9p23 9 13123172C> G null G A 214 214 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1175661788 9p23 9 13123173C> T null G R 214 214 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1354058512 9p23 9 13123169C> T null G D 215 215 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs900935958 9p23 9 13123170C> T null G S 215 215 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs759025832 9p23 9 13123162G> T null D E 217 217 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1309565728 9p23 9 13123163T> C null D G 217 217 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs372126160 9p23 9 13123160G> A null T M 218 218 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs201154034 9p23 9 13123157A> G null L P 219 219 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs201154034 9p23 9 13123157A> T null L Q 219 219 missense 0.999 probably damaging 0.13 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs746625763 9p23 9 13121932C> T null V M 221 221 missense 0.169 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1287435214 9p23 9 13121929T> C null N D 222 222 missense 0.025 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1436380772 9p23 9 13121925C> T null G E 223 223 missense 0.544 possibly damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs919824682 9p23 9 13121923T> C null I V 224 224 missense 0.006 benign 0.47 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs777528539 9p23 9 13121918G> C null D E 225 225 missense 0.519 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1335345618 9p23 9 13121919T> A null D V 225 225 missense 0.728 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1252984373 9p23 9 13121915C> A null L F 226 226 missense 0.798 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1216180071 9p23 9 13121913C> T null R K 227 227 missense 0.015 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs758658133 9p23 9 13121911T> C null K E 228 228 missense 0.001 benign 0.29 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs755555107 9p23 9 13121900A> T null H Q 231 231 missense 0.84 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs753904177 9p23 9 13121898T> C null D G 232 232 missense 0.641 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,gnomAD rs546601990 9p23 9 13121895T> C null E G 233 233 3.99E-4 missense 0.579 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1382884682 9p23 9 13121892G> A null A V 234 234 missense 0.855 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1169175093 9p23 9 13121881G> T null L M 238 238 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs972982636 9p23 9 13121873C> G null Q H 240 240 missense 0.883 possibly damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs750590254 cosmic curated [Cosmic]: liver cosmic_study:322 9p23 9 13121874T> C null Q R 240 240 missense 0.092 benign 0.0 deleterious 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs767824457 9p23 9 13121871G> A null T M 241 241 missense 0.141 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs917748699 9p23 9 13121869G> C null P A 242 242 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs765088740 9p23 9 13121866G> C null Q E 243 243 missense 0.17 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs959095849 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13121864C> G null Q H 243 243 missense 0.024 benign 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs759462151 9p23 9 13121865T> G null Q P 243 243 missense 0.003 benign 0.1 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs759462151 9p23 9 13121865T> C null Q R 243 243 missense 0.321 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs940451372 9p23 9 13121863T> C null R G 244 244 missense 0.433 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs763964370 9p23 9 13121860C> G null V L 245 245 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs763964370 9p23 9 13121860C> T null V M 245 245 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs529673809 9p23 9 13121857G> A null R C 246 246 2.0E-4 missense 0.018 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs772699513 9p23 9 13121856C> T null R H 246 246 missense 0.027 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs772699513 9p23 9 13121856C> A null R L 246 246 missense 0.031 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs772699513 9p23 9 13121856C> G null R P 246 246 missense 0.031 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs779425822 9p23 9 13121850G> C null T R 248 248 missense 0.25 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1325593917 9p23 9 13121848G> A null L F 249 249 missense 0.237 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1365003502 9p23 9 13121845A> G null Y H 250 250 missense 0.613 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs755462111 9p23 9 13121842T> C null R G 251 251 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1442020417 9p23 9 13121838T> C null D G 252 252 missense 0.61 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1442020417 9p23 9 13121838T> A null D V 252 252 missense 0.812 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs780757669 9p23 9 13121835T> C null E G 253 253 missense 0.906 possibly damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs780757669 9p23 9 13121835T> A null E V 253 253 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs750552027 9p23 9 13121829G> A null P L 255 255 missense 0.031 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1172565646 9p23 9 13121827A> G null Y H 256 256 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1391115874 9p23 9 13121823T> C null K R 257 257 missense 0.034 benign 0.6 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs757501348 9p23 9 13121817T> A null E V 259 259 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1229544682 9p23 9 13121815C> G null E Q 260 260 missense 0.048 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs751842122 9p23 9 13121812C> A null V L 261 261 missense 0.0 benign 0.95 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs759372346 9p23 9 13121802G> A null T I 264 264 missense 0.0 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs776517480 9p23 9 13121797T> G null T P 266 266 missense 0.283 benign 0.95 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs760054205 9p23 9 13121793A> G null I T 267 267 missense 0.031 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs766333079 9p23 9 13121794T> C null I V 267 267 missense 0.0 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs772792353 9p23 9 13121787A> G null L P 269 269 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1483362676 9p23 9 13121782T> C null K E 271 271 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs200604403 9p23 9 13121776G> C null P A 273 273 missense 0.888 possibly damaging 0.52 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs762930771 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13121775G> A null P L 273 273 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs769122077 9p23 9 13121772C> T null G E 274 274 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs774206866 9p23 9 13121773C> T null G R 274 274 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs190507855 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13121769T> C null K R 275 275 2.0E-4 missense 0.014 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,gnomAD rs530670552 9p23 9 13121766C> G null G A 276 276 2.0E-4 missense 0.916 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,gnomAD rs530670552 9p23 9 13121766C> A null G V 276 276 2.0E-4 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1445840906 9p23 9 13121760C> G null G A 278 278 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1374913018 9p23 9 13121755T> C null S G 280 280 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1374913018 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13121755T> G null S R 280 280 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs756670447 9p23 9 13121749C> T null V I 282 282 missense 0.419 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1334142575 9p23 9 13121745C> G null G A 283 283 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs745864046 9p23 9 13121746C> T null G S 283 283 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs750354781 9p23 9 13119646G> C null N K 286 286 missense 0.546 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs767397676 cosmic curated [Cosmic]: urinary_tract, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23525077,cosmic_study:413,cosmic_study:464 9p23 9 13119645C> T null D N 287 287 missense 0.951 probably damaging 0.01 deleterious 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs767397676 9p23 9 13119645C> A null D Y 287 287 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs201064037 9p23 9 13119641G> A null T I 288 288 missense 0.415 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs201064037 9p23 9 13119641G> T null T N 288 288 missense 0.415 benign 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs763785624 9p23 9 13119639C> A null G * 289 289 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs775059296 9p23 9 13119632A> C null F C 291 291 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1325269854 9p23 9 13119629A> C null V G 292 292 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1463002111 9p23 9 13119623T> C null D G 294 294 missense 0.855 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs777153532 9p23 9 13119621T> A null I F 295 295 missense 0.024 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs777153532 9p23 9 13119621T> C null I V 295 295 missense 0.01 benign 0.14 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1221335627 9p23 9 13119615T> A null K * 297 297 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1466762196 9p23 9 13119609C> T null G R 299 299 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1264673315 9p23 9 13119605A> G null I T 300 300 missense 0.283 benign 0.2 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl,dbSNP rs1554644827 [ClinVar]: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, [UniProt]: unknown pathological significance pubmed:28556411 pubmed:28556411 9p23 9 13119603C> T null A T 301 301 missense 0.098 benign 0.0 deleterious 0 Hydrocephalus, congenital, 2, with or without brain or eye anomalies (HYC2) MIM:615219 ClinVar:RCV000660888 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl,dbSNP rs1554644827 [ClinVar]: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, [UniProt]: unknown pathological significance pubmed:28556411 pubmed:28556411 9p23 9 13119603C> T null A T 301 301 missense 0.098 benign 0.0 deleterious 0 Hydrocephalus, congenital, 2, with or without brain or eye anomalies (HYC2) A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC2 affected individuals have variable neurologic impairment. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and non-specific dysmorphic features, may be observed. HYC2 inheritance is autosomal recessive. MIM:615219 pubmed:23240096,pubmed:28556411 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs771361944 9p23 9 13119602G> A null A V 301 301 missense 0.026 benign 0.15 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs932628078 9p23 9 13119599T> A null D V 302 302 missense 0.697 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs777844320 9p23 9 13119593T> C null D G 304 304 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1189772918 9p23 9 13119594C> T null D N 304 304 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs777844320 9p23 9 13119593T> A null D V 304 304 missense 0.871 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs377471452 9p23 9 13119591C> G null G R 305 305 2.0E-4 missense 0.129 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs377471452 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13119591C> T null G R 305 305 2.0E-4 missense 0.129 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1216087960 9p23 9 13119590C> A null G V 305 305 missense 0.879 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs892833069 9p23 9 13119584A> G null L P 307 307 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,gnomAD rs202061722 9p23 9 13119585G> C null L V 307 307 2.0E-4 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl,dbSNP rs886043499 9p23 9 13119579G> A null Q * 309 309 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs755913293 9p23 9 13119577C> G null Q H 309 309 missense 0.778 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs779043354 9p23 9 13119578T> C null Q R 309 309 missense 0.033 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1477710213 9p23 9 13119575C> T null G E 310 310 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs772351764 9p23 9 13119576C> T null G R 310 310 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1309445877 9p23 9 13119573C> G null D H 311 311 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1309445877 9p23 9 13119573C> T null D N 311 311 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1431767709 9p23 9 13119572T> A null D V 311 311 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1470420725 9p23 9 13119565T> C null I M 313 313 missense 0.901 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs781140848 9p23 9 13119563A> G null L S 314 314 missense 0.292 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs757261643 cosmic curated [Cosmic]: large_intestine cosmic_study:375,cosmic_study:376 9p23 9 13119560A> G null M T 315 315 missense 0.0 benign 0.19 tolerated 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1383181504 9p23 9 13119551C> T null G E 318 318 missense 0.321 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs751051967 9p23 9 13119549C> T null E K 319 319 missense 0.818 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs202112833 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13119543C> T null V I 321 321 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs193128302 NCI-TCGA Cosmic [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375,cosmic_study:582 9p23 9 13119540G> A null R C 322 322 3.99E-4 missense 0.801 possibly damaging 0.0 deleterious 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs193128302 9p23 9 13119540G> C null R G 322 322 3.99E-4 missense 0.554 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200405913 9p23 9 13119539C> T null R H 322 322 2.0E-4 missense 0.039 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs193128302 9p23 9 13119540G> T null R S 322 322 3.99E-4 missense 0.467 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1374377710 9p23 9 13119533G> A null A V 324 324 missense 0.106 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs761158317 9p23 9 13119528G> C null Q E 326 326 missense 0.078 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs761158317 9p23 9 13119528G> T null Q K 326 326 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs773775482 9p23 9 13119527T> C null Q R 326 326 missense 0.788 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1436525952 9p23 9 13119522C> A null A S 328 328 missense 0.003 benign 0.12 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs772107315 NCI-TCGA Cosmic [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23525077,cosmic_study:464 9p23 9 13119521G> A null A V 328 328 missense 0.009 benign 0.1 tolerated 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs367742001 9p23 9 13119519C> A null V F 329 329 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs367742001 9p23 9 13119519C> T null V I 329 329 missense 0.533 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs757171783 9p23 9 13119513C> A null A S 331 331 missense 0.376 benign 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs757171783 9p23 9 13119513C> T null A T 331 331 missense 0.255 benign 0.66 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs746916432 9p23 9 13119509A> G null L S 332 332 missense 0.838 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs746916432 9p23 9 13119509A> C null L W 332 332 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs757936023 9p23 9 13119504T> G null K Q 334 334 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1219004347 9p23 9 13115331A> C null S A 336 336 missense 0.071 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs770173364 9p23 9 13115327A> G null L P 337 337 missense 0.96 probably damaging 0.22 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs770173364 9p23 9 13115327A> C null L R 337 337 missense 0.9 possibly damaging 0.48 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs760481169 9p23 9 13115322T> A null T S 339 339 missense 0.117 benign 0.71 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs900326124 9p23 9 13115319C> T null V I 340 340 missense 0.288 benign 0.21 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1420070348 9p23 9 13115316T> C null T A 341 341 missense 0.182 benign 0.15 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs773156167 9p23 9 13115309T> C null E G 343 343 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1242945935 9p23 9 13115306A> G null V A 344 344 missense 0.914 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs771961124 9p23 9 13115307C> A null V F 344 344 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1193549277 9p23 9 13115303C> T null G E 345 345 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1466096377 9p23 9 13115297A> C null I S 347 347 missense 0.237 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1250973649 9p23 9 13115294T> A null K I 348 348 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1212987322 9p23 9 13115292C> G null A P 349 349 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1291380186 9p23 9 13115288C> T null G D 350 350 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374250159 9p23 9 13115289C> G null G R 350 350 5.99E-4 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1291380186 9p23 9 13115288C> A null G V 350 350 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs370830557 9p23 9 13115286G> C null P A 351 351 missense 0.48 possibly damaging 0.19 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1480064357 9p23 9 13115283A> G null F L 352 352 missense 0.985 probably damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,gnomAD rs375967596 9p23 9 13115279T> C null H R 353 353 missense 0.393 benign 0.34 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs779639956 9p23 9 13115280G> A null H Y 353 353 missense 0.987 probably damaging 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1369229845 9p23 9 13115276G> A null S L 354 354 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1325694455 9p23 9 13115267C> T null R K 357 357 missense 0.999 probably damaging 0.84 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs757702403 9p23 9 13115264G> A null P L 358 358 missense 0.0 benign 0.29 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs751992572 9p23 9 13115262A> G null S P 359 359 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1168367679 9p23 9 13115259G> C null Q E 360 360 missense 0.13 benign 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1409455335 9p23 9 13115255C> T null S N 361 361 missense 0.115 benign 0.77 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs908891606 9p23 9 13115249T> G null Q P 363 363 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs775469446 9p23 9 13114021C> A null V L 364 364 missense 0.0 benign 0.23 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs888575866 9p23 9 13114018T> A null S C 365 365 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs888575866 9p23 9 13114018T> C null S G 365 365 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1490142414 9p23 9 13114012C> G null G R 367 367 missense 0.194 benign 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1223687695 9p23 9 13114009T> C null S G 368 368 missense 0.0 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1025575170 9p23 9 13114005A> G null L P 369 369 missense 0.649 possibly damaging 0.24 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs373812826 9p23 9 13114002G> A null S L 370 370 missense 0.003 benign 0.24 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1467827996 9p23 9 13113999G> A null S F 371 371 missense 0.312 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs770624261 9p23 9 13114000A> G null S P 371 371 missense 0.01 benign 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs747281908 9p23 9 13113996A> G null F S 372 372 missense 0.017 benign 0.76 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs778187717 9p23 9 13113993G> C null T S 373 373 missense 0.0 benign 0.73 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs758901153 9p23 9 13113987G> A null P L 375 375 missense 0.01 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1408665173 9p23 9 13113988G> T null P T 375 375 missense 0.017 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs750913399 9p23 9 13113985G> T null L I 376 376 missense 0.0 benign 0.32 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs750913399 9p23 9 13113985G> C null L V 376 376 missense 0.0 benign 0.46 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC rs755059203 9p23 9 13113981G> C null S C 377 377 missense 0.051 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC rs755059203 9p23 9 13113981G> A null S F 377 377 missense 0.685 possibly damaging 0.15 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1188212836 9p23 9 13113978C> G null G A 378 378 missense 0.025 benign 0.35 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs753981773 9p23 9 13113975G> C null S C 379 379 missense 0.286 benign 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs753981773 9p23 9 13113975G> T null S Y 379 379 missense 0.23 benign 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs756371450 9p23 9 13113973T> C null S G 380 380 missense 0.0 benign 0.29 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1318009508 9p23 9 13113972C> T null S N 380 380 missense 0.0 benign 0.34 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs750666550 9p23 9 13113969G> A null T I 381 381 missense 0.007 benign 0.05 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1354888879 9p23 9 13113966G> C null S C 382 382 missense 0.003 benign 0.18 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs971975671 9p23 9 13113964C> G null E Q 383 383 missense 0.268 benign 0.47 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1174166167 9p23 9 13113947G> C null S R 388 388 missense 0.0 benign 0.18 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1286855881 9p23 9 13113945G> C null S * 389 389 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs775379892 9p23 9 13113946A> G null S P 389 389 missense 0.0 benign 0.33 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs765193120 9p23 9 13113940T> C null K E 391 391 missense 0.027 benign 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1389212851 9p23 9 13113939T> C null K R 391 391 missense 0.009 benign 0.42 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs753787253 9p23 9 13113054A> G null L S 394 394 missense 0.015 benign 0.45 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1372053243 9p23 9 13113048G> C null S C 396 396 missense 0.089 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs760152518 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 9p23 9 13113049A> G null S P 396 396 missense 0.038 benign 0.15 tolerated 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,dbSNP,gnomAD rs199730853 [ClinVar]: Hydrocephalus, congenital, 2, with or without brain or eye anomalies 9p23 9 13113045T> G null E A 397 397 missense 0.288 benign 0.04 deleterious 0 Hydrocephalus, congenital, 2, with or without brain or eye anomalies (HYC2) MIM:615219 ClinVar:RCV000791165 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs199730853 9p23 9 13113045T> C null E G 397 397 missense 0.915 probably damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1172085455 9p23 9 13113046C> T null E K 397 397 missense 0.939 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs774867671 9p23 9 13113041T> C null I M 398 398 missense 0.193 benign 0.28 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs762202328 9p23 9 13113043T> C null I V 398 398 missense 0.001 benign 0.53 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1249881062 9p23 9 13113036C> A null G V 400 400 missense 0.886 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs554246821 9p23 9 13113033A> C null L * 401 401 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1484137256 9p23 9 13113032T> G null L F 401 401 missense 0.33 benign 0.16 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1205986959 9p23 9 13113034A> T null L I 401 401 missense 0.003 benign 0.41 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs769199723 9p23 9 13113028T> C null T A 403 403 missense 0.005 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs749795326 9p23 9 13113027G> A null T I 403 403 missense 0.022 benign 0.05 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs749795326 9p23 9 13113027G> C null T R 403 403 missense 0.415 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1346871314 9p23 9 13113025C> G null V L 404 404 missense 0.133 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs776416799 9p23 9 13113022C> A null E * 405 405 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs776416799 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 9p23 9 13113022C> T null E K 405 405 missense 0.928 probably damaging 0.0 deleterious 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs967767927 9p23 9 13113021T> A null E V 405 405 missense 0.871 possibly damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1333928404 9p23 9 13113018A> G null M T 406 406 missense 0.0 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1201346272 9p23 9 13113016T> C null K E 407 407 missense 0.156 benign 0.25 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1305620185 9p23 9 13113015T> A null K I 407 407 missense 0.011 benign 0.54 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1409904327 9p23 9 13113013T> C null K E 408 408 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs61753786 9p23 9 13113011C> G null K N 408 408 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs566502993 9p23 9 13112145C> T null G D 409 409 3.99E-4 missense 0.024 benign 0.11 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs754754132 9p23 9 13112140T> C null T A 411 411 missense 0.0 benign 0.54 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs370572642 9p23 9 13112137C> G null D H 412 412 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs370572642 9p23 9 13112137C> A null D Y 412 412 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs756019730 9p23 9 13112133G> A null S L 413 413 missense 0.52 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs750442237 9p23 9 13112131G> T null L M 414 414 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1331200305 9p23 9 13112130A> G null L P 414 414 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs767129306 9p23 9 13112121C> T null S N 417 417 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1270677629 9p23 9 13112122T> G null S R 417 417 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10809904 9p23 9 13112117G> C null I M 418 418 0.0 missense 0.879 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs763671820 9p23 9 13112116C> T null A T 419 419 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1224862527 9p23 9 13112115G> A null A V 419 419 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs775734487 9p23 9 13112106A> C null V G 422 422 missense 0.46 possibly damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs765695318 9p23 9 13112104C> T null G S 423 423 missense 0.871 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1325222450 9p23 9 13112103C> A null G V 423 423 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs986731225 9p23 9 13112100C> T null S N 424 424 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs777166147 9p23 9 13112097G> A null P L 425 425 missense 0.625 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372542783 9p23 9 13112095G> A null L F 426 426 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs747113438 9p23 9 13112092C> G null G R 427 427 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs747113438 9p23 9 13112092C> T null G S 427 427 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,gnomAD rs370455521 9p23 9 13112087A> T null D E 428 428 missense 0.903 possibly damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1251068073 9p23 9 13112088T> A null D V 428 428 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs772187454 9p23 9 13112083G> C null P A 430 430 missense 0.753 possibly damaging 0.05 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1028579286 9p23 9 13112080T> C null I V 431 431 missense 0.014 benign 0.13 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs749052855 9p23 9 13112075A> C null F L 432 432 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs377719150 9p23 9 13112073A> G null I T 433 433 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs973965367 9p23 9 13112071C> G null A P 434 434 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs973965367 9p23 9 13112071C> T null A T 434 434 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs567379420 9p23 9 13112070G> A null A V 434 434 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs962847354 9p23 9 13112067A> C null M R 435 435 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs962847354 9p23 9 13112067A> G null M T 435 435 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs745766524 9p23 9 13112063C> T null M I 436 436 missense 0.236 benign 0.97 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1055199938 9p23 9 13112060G> C null H Q 437 437 missense 0.015 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1055199938 9p23 9 13112060G> T null H Q 437 437 missense 0.015 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1472792525 9p23 9 13112058G> T null P Q 438 438 missense 0.879 possibly damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs781323719 9p23 9 13112059G> A null P S 438 438 missense 0.736 possibly damaging 0.12 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs756775869 9p23 9 13112055G> C null T S 439 439 missense 0.0 benign 0.85 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes rs551162383 9p23 9 13112053C> T null G R 440 440 2.0E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1406961829 9p23 9 13112052C> A null G V 440 440 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1371435717 9p23 9 13112046G> T null A E 442 442 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1409555171 9p23 9 13112047C> T null A T 442 442 missense 0.864 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1371435717 9p23 9 13112046G> A null A V 442 442 missense 0.127 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs764883592 9p23 9 13112044C> A null A S 443 443 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1405393150 9p23 9 13112037G> A null T I 445 445 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34605667 9p23 9 13112025C> T null R K 449 449 0.01358 missense 0.015 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1393105830 9p23 9 13112024T> G null R S 449 449 missense 0.544 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs186287156 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13110740C> A null V F 450 450 3.99E-4 missense 0.718 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs754208398 9p23 9 13110736C> G null G A 451 451 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs754208398 9p23 9 13110736C> A null G V 451 451 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1442307344 9p23 9 13110733T> G null D A 452 452 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs986137855 9p23 9 13110734C> T null D N 452 452 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1442307344 9p23 9 13110733T> A null D V 452 452 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1035621497 9p23 9 13110728T> A null I F 454 454 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1563812880 9p23 9 13110721G> A null T I 456 456 missense 0.193 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs751005173 9p23 9 13110712C> T null G D 459 459 missense 0.501 possibly damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1360738650 9p23 9 13110713C> G null G R 459 459 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs767463295 9p23 9 13110709G> A null T I 460 460 missense 0.488 possibly damaging 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs200411759 9p23 9 13110706G> T null S Y 461 461 missense 0.007 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs775502416 9p23 9 13110703G> A null T I 462 462 missense 0.771 possibly damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1412627292 9p23 9 13110704T> G null T P 462 462 missense 0.931 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs372346014 9p23 9 13110700T> G null E A 463 463 missense 0.392 benign 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs372346014 9p23 9 13110700T> A null E V 463 463 missense 0.653 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs371132038 9p23 9 13110698C> T null G S 464 464 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs770919214 9p23 9 13110695T> G null M L 465 465 missense 0.024 benign 0.96 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs746893634 9p23 9 13110694A> C null M R 465 465 missense 0.886 possibly damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs777818755 9p23 9 13110692T> C null T A 466 466 missense 0.026 benign 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1270043516 9p23 9 13110688T> C null H R 467 467 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1354826146 9p23 9 13110685G> C null T S 468 468 missense 0.0 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs771435270 9p23 9 13110682T> A null Q L 469 469 missense 0.867 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1230306436 9p23 9 13110680C> G null A P 470 470 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1290216967 9p23 9 13110676A> G null V A 471 471 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs778364916 9p23 9 13110677C> G null V L 471 471 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,gnomAD rs372236469 9p23 9 13110673T> C null N S 472 472 missense 0.0 benign 0.3 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs748996430 9p23 9 13110671G> C null L V 473 473 missense 0.017 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs756511407 9p23 9 13110662T> G null N H 476 476 missense 0.719 possibly damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs368257743 9p23 9 13110659C> T null A T 477 477 missense 0.062 benign 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs923602263 9p23 9 13110655G> A null S F 478 478 missense 0.145 benign 0.44 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1425232308 9p23 9 13110652C> T null G D 479 479 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1563812522 9p23 9 13110653C> T null G S 479 479 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs768088594 9p23 9 13110650A> C null S A 480 480 missense 0.0 benign 0.22 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs757240251 9p23 9 13110649G> A null S F 480 480 missense 0.076 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs768088594 9p23 9 13110650A> T null S T 480 480 missense 0.0 benign 1.0 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs545160337 9p23 9 13110646A> G null I T 481 481 2.0E-4 missense 0.493 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1266147740 9p23 9 13110639C> T null M I 483 483 missense 0.0 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs764350489 9p23 9 13110641T> C null M V 483 483 missense 0.0 benign 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1224016805 9p23 9 13110638G> T null Q K 484 484 missense 0.519 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs75560250 9p23 9 13110637T> A null Q L 484 484 missense 0.838 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs769487090 9p23 9 13110064C> T null V M 485 485 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs771243192 9p23 9 13110061C> T null V I 486 486 missense 0.015 benign 0.05 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs771243192 9p23 9 13110061C> G null V L 486 486 missense 0.108 benign 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs894030276 9p23 9 13110058C> G null A P 487 487 missense 0.838 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs747499058 9p23 9 13110057G> A null A V 487 487 missense 0.641 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs778449865 9p23 9 13110052C> T null G R 489 489 missense 0.383 benign 0.12 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs758517075 9p23 9 13110046C> G null V L 491 491 missense 0.089 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs758517075 9p23 9 13110046C> T null V M 491 491 missense 0.642 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs371301979 9p23 9 13110042C> T null S N 492 492 missense 0.379 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs371301979 9p23 9 13110042C> G null S T 492 492 missense 0.003 benign 0.16 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs755215300 9p23 9 13110036A> G null V A 494 494 missense 0.403 benign 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs754076628 9p23 9 13110031C> G null G R 496 496 missense 0.649 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1351979221 9p23 9 13110022G> C null Q E 499 499 missense 0.031 benign 0.41 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1474340356 9p23 9 13110019C> T null E K 500 500 missense 0.018 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs761562072 9p23 9 13110013C> T null A T 502 502 missense 0.0 benign 0.63 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs751449170 9p23 9 13110009C> T null S N 503 503 missense 0.0 benign 0.23 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs764046623 9p23 9 13110004T> A null S C 505 505 missense 0.034 benign 0.08 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs764046623 9p23 9 13110004T> C null S G 505 505 missense 0.0 benign 0.51 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73404389 9p23 9 13110001G> A null L F 506 506 0.00599 missense 0.122 benign 0.16 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs769243940 9p23 9 13110000A> G null L P 506 506 missense 0.122 benign 0.18 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs73404389 9p23 9 13110001G> C null L V 506 506 0.00599 missense 0.054 benign 0.22 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1220390843 9p23 9 13109994A> C null F C 508 508 missense 0.034 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs928785785 NCI-TCGA Cosmic [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 9p23 9 13109991G> C null T S 509 509 missense 0.003 benign 0.65 tolerated 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1371903422 9p23 9 13109989C> T null G R 510 510 missense 0.575 possibly damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs981939723 [NCI-TCGA]: Variant assessed as Somatic; impact. 9p23 9 13109982G> A null T M 512 512 missense 0.628 possibly damaging 0.05 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1463503877 9p23 9 13109979G> A null S L 513 513 missense 0.063 benign 0.05 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs970125623 9p23 9 13109977T> C null S G 514 514 missense 0.0 benign 0.11 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs771282310 9p23 9 13109976C> A null S I 514 514 missense 0.227 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes rs543382157 9p23 9 13109974T> C null S G 515 515 2.0E-4 missense 0.0 benign 0.15 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs201230061 9p23 9 13109970A> G null I T 516 516 missense 0.321 benign 0.13 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1397416429 9p23 9 13109971T> C null I V 516 516 missense 0.006 benign 0.27 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs372873246 9p23 9 13109963C> G null Q H 518 518 missense 0.0 benign 0.24 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs376485985 9p23 9 13109964T> A null Q L 518 518 missense 0.075 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1341414782 9p23 9 13109961T> A null D V 519 519 missense 0.812 possibly damaging 0.05 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs779048168 9p23 9 13109953C> T null G R 522 522 missense 0.969 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs779048168 9p23 9 13109953C> G null G R 522 522 missense 0.969 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs777537672 9p23 9 13109057G> T null P H 523 523 missense 0.778 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1306375880 9p23 9 13109054G> A null P L 524 524 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs765428302 9p23 9 13109050T> G null Q H 525 525 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1369703126 9p23 9 13109048C> T null C Y 526 526 missense 0.0 benign 0.1 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1328870711 9p23 9 13109044C> G null K N 527 527 missense 0.192 benign 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs752635006 9p23 9 13109042G> A null S F 528 528 missense 0.355 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs754448147 9p23 9 13109040T> A null I F 529 529 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs754448147 9p23 9 13109040T> C null I V 529 529 missense 0.038 benign 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,TOPMed,gnomAD rs546961898 9p23 9 13109036G> A null T I 530 530 2.0E-4 missense 0.006 benign 0.05 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,TOPMed,gnomAD rs546961898 9p23 9 13109036G> C null T R 530 530 2.0E-4 missense 0.194 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs538619524 9p23 9 13109034G> C null L V 531 531 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs760401175 9p23 9 13109030T> G null E A 532 532 missense 0.003 benign 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs773041662 9p23 9 13109028G> A null R * 533 533 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs767969634 9p23 9 13109027C> T null R Q 533 533 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC rs762288586 9p23 9 13109024C> T null G E 534 534 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs959253415 9p23 9 13109018T> G null D A 536 536 missense 0.736 possibly damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1013170897 9p23 9 13109019C> G null D H 536 536 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1013170897 9p23 9 13109019C> A null D Y 536 536 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1365547819 9p23 9 13109007A> G null F L 540 540 missense 0.997 probably damaging 0.32 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs769047907 9p23 9 13109001T> C null I V 542 542 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs749327468 9p23 9 13108997A> C null V G 543 543 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1227954841 9p23 9 13108992C> T null G R 545 545 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1351342832 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13108991C> A null G V 545 545 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs769926140 9p23 9 13108988T> C null Y C 546 546 missense 0.014 benign 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs185422539 9p23 9 13108985C> A null G V 547 547 3.99E-4 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs781418452 9p23 9 13108982C> A null S I 548 548 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs781418452 9p23 9 13108982C> T null S N 548 548 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs758152471 9p23 9 13108981G> C null S R 548 548 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1430767263 9p23 9 13108980G> A null P S 549 549 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC rs778856166 9p23 9 13108976T> G null H P 550 550 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs754857660 9p23 9 13108975A> C null H Q 550 550 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1156330396 9p23 9 13108977G> A null H Y 550 550 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs753880973 9p23 9 13108969G> C null D E 552 552 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1393788781 9p23 9 13108964G> C null P R 554 554 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs765957875 9p23 9 13108965G> A null P S 554 554 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1332806177 9p23 9 13108962T> C null I V 555 555 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs755736030 9p23 9 13108956C> T null V I 557 557 missense 0.419 benign 0.31 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1237337304 9p23 9 13108953T> C null K E 558 558 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs892349144 9p23 9 13108950T> C null T A 559 559 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs750045780 9p23 9 13108949G> A null T I 559 559 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs750045780 9p23 9 13108949G> T null T K 559 559 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs371963885 9p23 9 13108947C> G null V L 560 560 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1330031744 9p23 9 13108940G> C null A G 562 562 missense 0.0 benign 0.35 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC,gnomAD rs561432932 9p23 9 13108938T> C null K E 563 563 2.0E-4 missense 0.999 probably damaging 0.26 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs765739195 9p23 9 13107104G> C null A G 566 566 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs765739195 9p23 9 13107104G> A null A V 566 566 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1554637141 9p23 9 13107098T> A null E V 568 568 missense 0.998 probably damaging 0.09 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs776679257 9p23 9 13107095T> G null D A 569 569 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1019373900 9p23 9 13107096C> G null D H 569 569 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150393677 9p23 9 13107093C> T null G R 570 570 0.001198 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150393677 9p23 9 13107093C> G null G R 570 570 0.001198 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs773535819 9p23 9 13107090G> A null R C 571 571 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs1802495 9p23 9 13107089C> T null R H 571 571 missense 0.129 benign 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs749135989 9p23 9 13107084T> A null K * 573 573 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs749135989 9p23 9 13107084T> C null K E 573 573 missense 0.878 possibly damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1479642170 9p23 9 13107083T> G null K T 573 573 missense 0.547 possibly damaging 0.02 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1308010726 9p23 9 13107080C> T null R K 574 574 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs745854560 9p23 9 13107075C> G null D H 576 576 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs745854560 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13107075C> T null D N 576 576 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs745854560 9p23 9 13107075C> A null D Y 576 576 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs780845139 9p23 9 13107072G> A null Q * 577 577 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs780845139 9p23 9 13107072G> C null Q E 577 577 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs369284040 9p23 9 13107066T> C null I V 579 579 missense 0.037 benign 0.08 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140627050 9p23 9 13107063C> T null A T 580 580 9.98E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1165989164 9p23 9 13107060C> A null V F 581 581 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1369078759 9p23 9 13107056T> A null N I 582 582 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1369078759 9p23 9 13107056T> C null N S 582 582 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs753075068 9p23 9 13107053C> T null G E 583 583 missense 0.867 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs372509971 9p23 9 13107054C> T null G R 583 583 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs372509971 9p23 9 13107054C> G null G R 583 583 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs765649084 9p23 9 13107051G> A null Q * 584 584 stop gained 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs760036444 9p23 9 13107047C> T null S N 585 585 missense 0.958 probably damaging 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs760036444 9p23 9 13107047C> G null S T 585 585 missense 0.377 benign 0.3 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs754386365 9p23 9 13107039C> T null G R 588 588 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,gnomAD rs369281280 9p23 9 13107029T> C null H R 591 591 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs773263813 9p23 9 13107027C> T null E K 592 592 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ExAC rs200404626 9p23 9 13107020G> A null A V 594 594 0.0 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1206280046 9p23 9 13107014G> A null A V 596 596 missense 0.586 possibly damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ESP,ExAC,gnomAD rs375734908 9p23 9 13107012T> C null I V 597 597 missense 0.134 benign 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs193280665 9p23 9 13107002C> T null R Q 600 600 0.003195 missense 0.294 benign 0.37 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs745768687 NCI-TCGA Cosmic [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 9p23 9 13107003G> A null R W 600 600 missense 0.989 probably damaging 0.0 deleterious 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1026062304 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9p23 9 13106997T> C null K E 602 602 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1419004251 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 9p23 9 13106993C> T null G D 603 603 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed,gnomAD rs1392314249 9p23 9 13106994C> G null G R 603 603 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs746534878 9p23 9 13106991T> C null T A 604 604 missense 0.121 benign 0.11 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) TOPMed rs1172984977 9p23 9 13106988C> G null V L 605 605 missense 0.7 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs777234144 9p23 9 13106984G> C null T S 606 606 missense 0.961 probably damaging 0.03 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) Ensembl rs1563803484 9p23 9 13106980C> G null L F 607 607 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,gnomAD rs747863706 9p23 9 13106977C> T null M I 608 608 missense 0.003 benign 0.05 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1430007946 9p23 9 13106976C> T null V I 609 609 missense 0.244 benign 0.06 tolerated 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs762562059 9p23 9 13106973G> A null L F 610 610 missense 0.971 probably damaging 0.04 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1471710905 9p23 9 13106972A> G null L P 610 610 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) ExAC,TOPMed,gnomAD rs762562059 9p23 9 13106973G> C null L V 610 610 missense 0.765 possibly damaging 0.0 deleterious 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1182860590 9p23 9 13106965T> A null * C 612 612 stop lost 0 A0A075B6R8 MPDZ Multiple PDZ domain protein (Fragment) gnomAD rs1411536970 9p23 9 13106966C> A null * L 612 612 stop lost 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs781302049 2p11.2 2 90004833C> T null L F 3 3 missense 0.028 benign 0.68 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs745920392 2p11.2 2 90004840C> T null A V 5 5 missense 0.807 possibly damaging 0.07 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1353983905 2p11.2 2 90004842C> T null Q * 6 6 stop gained 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs770366838 2p11.2 2 90004849T> C null L P 8 8 missense 0.332 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs780365332 2p11.2 2 90004852G> A null G E 9 9 missense 0.972 probably damaging 0.12 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs774839028 2p11.2 2 90004854C> A null L M 10 10 missense 0.708 possibly damaging 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1437966311 2p11.2 2 90004862G> T null M I 12 12 missense 0.009 benign 0.05 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,TOPMed,gnomAD rs541587865 2p11.2 2 90004860A> G null M V 12 12 2.0E-4 missense 0.009 benign 0.29 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1415266302 2p11.2 2 90004863C> T null L F 13 13 missense 0.46 possibly damaging 0.18 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed,gnomAD rs955253256 2p11.2 2 90004867G> A null W * 14 14 stop gained 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs771818521 2p11.2 2 90004868G> A null W * 14 14 stop gained 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1346659808 2p11.2 2 90004872C> G null P A 16 16 missense 0.699 possibly damaging 0.03 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1346659808 2p11.2 2 90004872C> T null P S 16 16 missense 0.125 benign 0.39 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1296756059 2p11.2 2 90005321T> A null S T 18 18 missense 0.071 benign 0.18 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs772943742 2p11.2 2 90005325G> T null S I 19 19 missense 0.048 benign 0.03 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs772943742 2p11.2 2 90005325G> C null S T 19 19 missense 0.035 benign 0.29 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs760237473 2p11.2 2 90005327G> A null G R 20 20 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs770415317 2p11.2 2 90005330G> T null D Y 21 21 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1484057973 2p11.2 2 90005336G> T null V L 23 23 missense 0.027 benign 0.07 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1484057973 2p11.2 2 90005336G> A null V M 23 23 missense 0.596 possibly damaging 0.03 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1462907939 2p11.2 2 90005342A> G null T A 25 25 missense 0.759 possibly damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1210421670 2p11.2 2 90005343C> T null T I 25 25 missense 0.517 possibly damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1247896098 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005347G> T null Q H 26 26 missense 0.915 probably damaging 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs962467664 2p11.2 2 90005348A> G null T A 27 27 missense 0.001 benign 0.05 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1450669024 2p11.2 2 90005349C> A null T N 27 27 missense 0.031 benign 0.04 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed,gnomAD rs1363627933 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005351C> T null P S 28 28 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ESP,ExAC,TOPMed,gnomAD rs372252065 2p11.2 2 90005354C> T null L F 29 29 missense 0.06 benign 0.24 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ESP,ExAC,TOPMed,gnomAD rs372252065 2p11.2 2 90005354C> A null L I 29 29 missense 0.419 benign 0.16 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1465664825 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005358C> T null S F 30 30 missense 0.077 benign 0.07 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1173345620 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005361C> T null S L 31 31 missense 0.0 benign 1.0 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1455401864 2p11.2 2 90005363C> A null P T 32 32 missense 0.052 benign 0.47 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC rs750674993 2p11.2 2 90005366G> A null V I 33 33 missense 0.066 benign 0.16 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs753923725 2p11.2 2 90005373T> C null L P 35 35 missense 0.001 benign 0.92 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ESP,ExAC,gnomAD rs373100620 2p11.2 2 90005378C> T null Q * 37 37 stop gained 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ESP,ExAC,gnomAD rs373100620 2p11.2 2 90005378C> G null Q E 37 37 missense 0.0 benign 1.0 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs758771593 2p11.2 2 90005382C> T null P L 38 38 missense 0.03 benign 0.16 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs746699245 2p11.2 2 90005384G> A null A T 39 39 missense 0.191 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1473645854 2p11.2 2 90005391T> C null I T 41 41 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1267897297 2p11.2 2 90005390A> G null I V 41 41 missense 0.086 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1247522363 2p11.2 2 90005394C> T null S F 42 42 missense 0.238 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,TOPMed,gnomAD rs150942262 2p11.2 2 90005397T> G null F C 43 43 missense 0.0 benign 1.0 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs745346550 2p11.2 2 90005398C> A null F L 43 43 missense 0.001 benign 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs769748347 2p11.2 2 90005400G> A null R K 44 44 missense 0.005 benign 0.77 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,NCI-TCGA,gnomAD rs769748347 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005400G> T null R M 44 44 missense 0.869 possibly damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1432646931 2p11.2 2 90005401G> C null R S 44 44 missense 0.649 possibly damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1432646931 2p11.2 2 90005401G> T null R S 44 44 missense 0.649 possibly damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs775336831 2p11.2 2 90005403C> G null S C 45 45 missense 0.707 possibly damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1199700812 2p11.2 2 90005402T> A null S T 45 45 missense 0.154 benign 0.06 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs763932027 2p11.2 2 90005406G> C null S T 46 46 missense 0.066 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs774168767 2p11.2 2 90005408C> T null Q * 47 47 stop gained 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs774168767 2p11.2 2 90005408C> G null Q E 47 47 missense 0.013 benign 0.11 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1443175515 2p11.2 2 90005412G> T null S I 48 48 missense 0.596 possibly damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed,gnomAD rs929661480 2p11.2 2 90005413C> G null S R 48 48 missense 0.315 benign 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed,gnomAD rs929661480 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005413C> A null S R 48 48 missense 0.315 benign 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs766582013 2p11.2 2 90005414C> T null L F 49 49 missense 0.27 benign 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs753324446 2p11.2 2 90005418T> A null V E 50 50 missense 0.003 benign 0.03 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs765845935 2p11.2 2 90005417G> A null V I 50 50 missense 0.0 benign 0.05 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs765845935 2p11.2 2 90005417G> C null V L 50 50 missense 0.0 benign 1.0 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs765845935 2p11.2 2 90005417G> T null V L 50 50 missense 0.0 benign 1.0 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs766981715 2p11.2 2 90005421A> T null H L 51 51 missense 0.125 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs766981715 2p11.2 2 90005421A> C null H P 51 51 missense 0.607 possibly damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed rs758960827 2p11.2 2 90005420C> T null H Y 51 51 missense 0.005 benign 0.35 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs778048223 2p11.2 2 90005424G> A null S N 52 52 missense 0.021 benign 0.05 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs778048223 2p11.2 2 90005424G> C null S T 52 52 missense 0.023 benign 0.07 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,TOPMed,gnomAD rs539617290 2p11.2 2 90005427A> C null D A 53 53 2.0E-4 missense 0.391 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,TOPMed,gnomAD rs539617290 2p11.2 2 90005427A> G null D G 53 53 2.0E-4 missense 0.045 benign 0.07 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs756894750 2p11.2 2 90005430G> A null G E 54 54 missense 0.311 benign 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1341942063 2p11.2 2 90005434C> A null N K 55 55 missense 0.007 benign 0.48 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs745397957 2p11.2 2 90005439A> C null Y S 57 57 missense 0.654 possibly damaging 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs769357730 2p11.2 2 90005442T> G null L W 58 58 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1271153201 2p11.2 2 90005445G> A null S N 59 59 missense 0.0 benign 1.0 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ESP,ExAC,TOPMed,gnomAD rs373577776 2p11.2 2 90005448G> A null W * 60 60 stop gained 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs768603784 2p11.2 2 90005455G> C null Q H 62 62 missense 0.048 benign 0.13 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs774044515 2p11.2 2 90005456C> T null Q * 63 63 stop gained 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs774044515 2p11.2 2 90005456C> A null Q K 63 63 missense 0.706 possibly damaging 0.04 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs761619202 2p11.2 2 90005460G> A null R K 64 64 missense 0.0 benign 1.0 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs771069469 2p11.2 2 90005461G> T null R S 64 64 missense 0.155 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs759835041 2p11.2 2 90005462C> T null P S 65 65 missense 0.459 possibly damaging 0.05 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs893317295 2p11.2 2 90005466G> A null G D 66 66 missense 0.599 possibly damaging 0.04 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs765472911 2p11.2 2 90005470G> C null Q H 67 67 missense 0.11 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1225789752 2p11.2 2 90005475C> T null P L 69 69 missense 0.969 probably damaging 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 Ensembl rs1558923026 2p11.2 2 90005478G> T null R I 70 70 missense 0.391 benign 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377415614 2p11.2 2 90005479A> C null R S 70 70 2.0E-4 missense 0.218 benign 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1383472917 2p11.2 2 90005481T> A null L H 71 71 missense 0.206 benign 0.07 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs764624888 2p11.2 2 90005487T> C null I T 73 73 missense 0.506 possibly damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs751896482 2p11.2 2 90005489T> C null Y H 74 74 missense 0.474 possibly damaging 0.03 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ESP,ExAC,TOPMed,gnomAD rs370132283 2p11.2 2 90005494G> T null K N 75 75 missense 0.183 benign 0.45 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1404659562 2p11.2 2 90005492A> C null K Q 75 75 missense 0.0 benign 0.57 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs757585827 2p11.2 2 90005493A> G null K R 75 75 missense 0.003 benign 0.61 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs755738155 2p11.2 2 90005495G> A null V I 76 76 missense 0.011 benign 0.19 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1210522667 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005498T> C null S P 77 77 missense 0.075 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,TOPMed,gnomAD rs543790084 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005504C> G null R G 79 79 7.99E-4 missense 0.629 possibly damaging 0.03 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374084822 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005505G> T null R L 79 79 3.99E-4 missense 0.005 benign 0.4 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374084822 2p11.2 2 90005505G> A null R Q 79 79 3.99E-4 missense 0.023 benign 0.12 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs543790084 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005504C> T null R W 79 79 7.99E-4 missense 0.049 benign 0.03 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,NCI-TCGA,TOPMed,gnomAD rs768500058 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005509C> A null F L 80 80 missense 0.003 benign 0.65 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1388292767 2p11.2 2 90005514G> C null G A 82 82 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1168709454 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005517T> C null V A 83 83 missense 0.694 possibly damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1428485219 2p11.2 2 90005516G> A null V I 83 83 missense 0.165 benign 0.18 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,TOPMed,gnomAD rs574125763 2p11.2 2 90005520C> G null P R 84 84 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1301951745 2p11.2 2 90005523A> G null D G 85 85 missense 0.227 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1378889894 2p11.2 2 90005528T> C null F L 87 87 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1437931705 2p11.2 2 90005531A> C null S R 88 88 missense 0.539 possibly damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs773129819 2p11.2 2 90005538G> T null S I 90 90 missense 0.537 possibly damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs773129819 2p11.2 2 90005538G> A null S N 90 90 missense 0.833 possibly damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed,gnomAD rs1317756633 2p11.2 2 90005540G> A null G R 91 91 missense 0.635 possibly damaging 0.04 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed,gnomAD rs1317756633 2p11.2 2 90005540G> C null G R 91 91 missense 0.635 possibly damaging 0.04 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,TOPMed,gnomAD rs541448935 2p11.2 2 90005543G> C null A P 92 92 9.98E-4 missense 0.314 benign 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,TOPMed,gnomAD rs541448935 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005543G> A null A T 92 92 9.98E-4 missense 0.1 benign 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs775747146 2p11.2 2 90005544C> T null A V 92 92 missense 0.1 benign 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1208266551 2p11.2 2 90005546G> A null G R 93 93 missense 0.939 probably damaging 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs763043848 2p11.2 2 90005549A> G null T A 94 94 missense 0.449 possibly damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,NCI-TCGA,TOPMed,gnomAD rs764525066 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005550C> T null T I 94 94 missense 0.342 benign 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs764525066 2p11.2 2 90005550C> A null T K 94 94 missense 0.17 benign 0.03 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 NCI-TCGA rs572936177 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2p11.2 2 90005546de l null T Q 94 94 frameshift 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs752040464 2p11.2 2 90005553A> G null D G 95 95 missense 0.475 possibly damaging 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,NCI-TCGA,TOPMed,gnomAD rs767972014 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005561C> A null L M 98 98 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1188576511 2p11.2 2 90005567A> T null I F 100 100 missense 0.582 possibly damaging 0.03 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs750751413 2p11.2 2 90005571G> T null S I 101 101 missense 0.928 probably damaging 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs750751413 2p11.2 2 90005571G> A null S N 101 101 missense 0.203 benign 0.07 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs755791400 2p11.2 2 90005575G> T null R S 102 102 missense 0.048 benign 0.37 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376934349 2p11.2 2 90005576G> T null V L 103 103 3.99E-4 missense 0.147 benign 0.2 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376934349 2p11.2 2 90005576G> C null V L 103 103 3.99E-4 missense 0.147 benign 0.2 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376934349 2p11.2 2 90005576G> A null V M 103 103 3.99E-4 missense 0.854 possibly damaging 0.05 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1339145134 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005583C> A null A D 105 105 missense 0.186 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1342373248 2p11.2 2 90005582G> C null A P 105 105 missense 0.116 benign 0.29 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1339145134 2p11.2 2 90005583C> T null A V 105 105 missense 0.122 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs778281050 2p11.2 2 90005589A> G null D G 107 107 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1435034108 2p11.2 2 90005588G> C null D H 107 107 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs778281050 2p11.2 2 90005589A> T null D V 107 107 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 gnomAD rs1278158805 2p11.2 2 90005594G> A null G R 109 109 missense 0.497 possibly damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs777751631 2p11.2 2 90005597G> T null V F 110 110 missense 0.11 benign 0.04 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed,gnomAD rs1266019800 2p11.2 2 90005600T> C null Y H 111 111 missense 0.757 possibly damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ESP,TOPMed rs374208176 2p11.2 2 90005604A> G null Y C 112 112 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1437740661 2p11.2 2 90005603T> C null Y H 112 112 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs775802059 2p11.2 2 90005606T> G null C G 113 113 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs775802059 2p11.2 2 90005606T> C null C R 113 113 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,TOPMed,gnomAD rs533478664 2p11.2 2 90005607G> A null C Y 113 113 9.98E-4 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,TOPMed,gnomAD rs389457 2p11.2 2 90005610C> T null T M 114 114 missense 0.0 benign 0.3 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 NCI-TCGA rs774271118 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90005610C> T null T M 114 114 missense 0.0 benign 0.3 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,gnomAD rs545170450 2p11.2 2 90005612C> T null Q * 115 115 2.0E-4 stop gained 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs766021996 2p11.2 2 90005614A> T null Q H 115 115 missense 0.2 benign 0.02 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ExAC,gnomAD rs545170450 2p11.2 2 90005612C> A null Q K 115 115 2.0E-4 missense 0.222 benign 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190167237 2p11.2 2 90005616C> G null A G 116 116 0.001398 missense 0.0 benign 1.0 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC,gnomAD rs754575259 2p11.2 2 90005615G> A null A T 116 116 missense 0.003 benign 0.3 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190167237 2p11.2 2 90005616C> T null A V 116 116 0.001398 missense 0.003 benign 0.33 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 Ensembl rs113074792 2p11.2 2 90005618A> G null T A 117 117 missense 0.005 benign 0.38 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1180521384 2p11.2 2 90005621C> A null Q K 118 118 missense 0.003 benign 0.34 tolerated 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC rs758393352 2p11.2 2 90005627C> G null P A 120 120 missense 0.699 possibly damaging 0.01 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 TOPMed rs1208271091 2p11.2 2 90005628C> T null P L 120 120 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 Ensembl rs1558923179 2p11.2 2 90005628_90005629insCTGTACACTTTTGGCCAGGGGACCAAGCTGGAGATCAAACGTAAGTACTTTTTTCCACTGATTCTTCACTGTTGCTAATTAGTTTACTTTGTGTTCCT T null P PCTLLARGPSWRSNVSTFFH*FFTVAN*FTLCSF 120 120 stop gained 0 A0A075B6R9 IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 ExAC rs758393352 2p11.2 2 90005627C> T null P S 120 120 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 gnomAD rs1482920289 7p14.1 7 38269535T> C null Y C 3 3 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 ExAC,gnomAD rs751170488 7p14.1 7 38269526T> A null K I 6 6 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 ExAC,gnomAD rs777392528 7p14.1 7 38269523A> C null L R 7 7 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 gnomAD rs1218054755 7p14.1 7 38269517C> T null G D 9 9 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 TOPMed,gnomAD rs1275906870 7p14.1 7 38269518C> T null G S 9 9 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 TOPMed rs1362168696 7p14.1 7 38269515T> G null S R 10 10 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 ExAC,gnomAD rs752353930 7p14.1 7 38269511C> A null G V 11 11 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 TOPMed rs1215815334 7p14.1 7 38269509T> C null T A 12 12 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 ExAC,gnomAD rs764963979 7p14.1 7 38269508G> A null T I 12 12 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 ExAC,gnomAD rs764963979 7p14.1 7 38269508G> T null T K 12 12 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 TOPMed,gnomAD rs1349686207 7p14.1 7 38269506T> C null T A 13 13 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 gnomAD rs1313214094 7p14.1 7 38269503G> A null L F 14 14 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376317934 7p14.1 7 38269497C> T null V I 16 16 2.0E-4 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 ExAC,gnomAD rs766399784 7p14.1 7 38269493G> T null T K 17 17 missense 0.0 unknown 0 A0A075B6S0 TRGJ1 T cell receptor gamma joining 1 ExAC,gnomAD rs766399784 7p14.1 7 38269493G> C null T R 17 17 missense 0.0 unknown 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1295383674 2p11.2 2 89947551C> T null P S 4 4 missense 0.177 benign 0.13 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1295383674 2p11.2 2 89947551C> A null P T 4 4 missense 0.793 possibly damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs559784230 2p11.2 2 89947557C> T null Q * 6 6 2.0E-4 stop gained 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs559784230 2p11.2 2 89947557C> G null Q E 6 6 2.0E-4 missense 0.119 benign 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1263915854 2p11.2 2 89947561T> A null L H 7 7 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1015966317 2p11.2 2 89947567G> A null G E 9 9 missense 0.979 probably damaging 0.04 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs748444981 2p11.2 2 89947569C> A null L M 10 10 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs963080265 2p11.2 2 89947572C> G null L V 11 11 missense 0.662 possibly damaging 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs772817330 2p11.2 2 89947578C> T null L F 13 13 missense 0.529 possibly damaging 0.17 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs772817330 2p11.2 2 89947578C> A null L I 13 13 missense 0.927 probably damaging 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1383437372 2p11.2 2 89947588C> A null P H 16 16 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1328182546 2p11.2 2 89947587C> A null P T 16 16 missense 0.168 benign 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1172744846 2p11.2 2 89947959G> A null G E 17 17 missense 0.07 benign 0.07 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1172744846 2p11.2 2 89947959G> T null G V 17 17 missense 0.176 benign 0.05 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs753963552 2p11.2 2 89947964A> T null S C 19 19 missense 0.03 benign 0.17 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs759683574 2p11.2 2 89947965G> A null S N 19 19 missense 0.03 benign 0.15 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs753250356 2p11.2 2 89947968C> A null A E 20 20 missense 0.003 benign 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs753250356 2p11.2 2 89947968C> G null A G 20 20 missense 0.0 benign 1.0 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs140693346 2p11.2 2 89947967G> A null A T 20 20 3.99E-4 missense 0.009 benign 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs753250356 2p11.2 2 89947968C> T null A V 20 20 missense 0.009 benign 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,NCI-TCGA,gnomAD rs778231717 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89947971A> C null D A 21 21 missense 0.076 benign 0.08 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs532291272 2p11.2 2 89947972T> G null D E 21 21 2.0E-4 missense 0.076 benign 0.18 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs780846686 2p11.2 2 89947974T> A null I N 22 22 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs550833303 2p11.2 2 89947973A> G null I V 22 22 3.99E-4 missense 0.015 benign 0.42 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs779500192 2p11.2 2 89947977T> C null V A 23 23 missense 0.152 benign 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs755659000 2p11.2 2 89947976G> T null V L 23 23 missense 0.027 benign 0.07 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1262565724 2p11.2 2 89947981G> A null M I 24 24 missense 0.152 benign 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs569168665 2p11.2 2 89947983C> A null T N 25 25 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs569168665 2p11.2 2 89947983C> G null T S 25 25 2.0E-4 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC rs774397497 2p11.2 2 89947988A> G null T A 27 27 missense 0.007 benign 0.05 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs773282250 2p11.2 2 89947987_89947988insTGCAGAGTGTGAT G null T C 27 27 stop gained 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs536579682 2p11.2 2 89947989C> T null T I 27 27 2.0E-4 missense 0.039 benign 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs536579682 2p11.2 2 89947989C> G null T S 27 27 2.0E-4 missense 0.003 benign 0.81 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1402585119 2p11.2 2 89947992C> T null P L 28 28 missense 0.311 benign 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1359459997 2p11.2 2 89947995T> G null L R 29 29 missense 0.03 benign 0.31 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs776924483 2p11.2 2 89947994C> G null L V 29 29 missense 0.007 benign 0.32 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1339733497 2p11.2 2 89947998C> G null S C 30 30 missense 0.148 benign 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs765492329 2p11.2 2 89947997T> A null S T 30 30 missense 0.028 benign 0.14 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1333193665 2p11.2 2 89948003T> A null S T 32 32 missense 0.035 benign 0.37 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs558575282 2p11.2 2 89948007T> C null V A 33 33 2.0E-4 missense 0.664 possibly damaging 0.09 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199932107 2p11.2 2 89948006G> A null V I 33 33 2.0E-4 missense 0.066 benign 0.15 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs576875482 2p11.2 2 89948010C> T null T I 34 34 2.0E-4 missense 0.018 benign 0.13 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs576875482 2p11.2 2 89948010C> G null T S 34 34 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1176475551 2p11.2 2 89948009A> T null T S 34 34 missense 0.003 benign 1.0 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 Ensembl rs1558897328 2p11.2 2 89948013C> A null P H 35 35 missense 0.08 benign 0.12 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1361650783 2p11.2 2 89948012C> A null P T 35 35 missense 0.334 benign 0.1 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1240758043 2p11.2 2 89948016G> A null G E 36 36 missense 0.541 possibly damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs767710554 2p11.2 2 89948015G> A null G R 36 36 missense 0.436 benign 0.04 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs906201514 2p11.2 2 89948018C> T null Q * 37 37 stop gained 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs557180928 2p11.2 2 89948022C> T null P L 38 38 3.99E-4 missense 0.019 benign 0.17 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs748843940 2p11.2 2 89948025C> A null A D 39 39 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed,gnomAD rs1172136102 2p11.2 2 89948024G> T null A S 39 39 missense 0.773 possibly damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed,gnomAD rs1172136102 2p11.2 2 89948024G> A null A T 39 39 missense 0.118 benign 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs748843940 2p11.2 2 89948025C> T null A V 39 39 missense 0.026 benign 0.81 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs779013827 2p11.2 2 89948031T> C null I T 41 41 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs191653248 2p11.2 2 89948042T> C null S P 45 45 2.0E-4 missense 0.903 possibly damaging 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs772946535 2p11.2 2 89948046G> T null S I 46 46 missense 0.466 possibly damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs772946535 2p11.2 2 89948046G> A null S N 46 46 missense 0.027 benign 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1343630366 2p11.2 2 89948045A> C null S R 46 46 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs772946535 2p11.2 2 89948046G> C null S T 46 46 missense 0.072 benign 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC rs769950819 2p11.2 2 89948051A> C null S R 48 48 missense 0.892 possibly damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs542878470 2p11.2 2 89948060C> G null H D 51 51 2.0E-4 missense 0.003 benign 0.18 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs750805882 2p11.2 2 89948061A> T null H L 51 51 missense 0.079 benign 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs542878470 2p11.2 2 89948060C> A null H N 51 51 2.0E-4 missense 0.01 benign 0.19 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs561266758 2p11.2 2 89948062T> G null H Q 51 51 2.0E-4 missense 0.013 benign 0.04 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs750805882 2p11.2 2 89948061A> G null H R 51 51 missense 0.007 benign 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs542878470 2p11.2 2 89948060C> T null H Y 51 51 2.0E-4 missense 0.005 benign 0.34 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs765975125 2p11.2 2 89948063A> G null S G 52 52 missense 0.027 benign 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs753489991 2p11.2 2 89948064G> A null S N 52 52 missense 0.015 benign 0.05 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs765975125 2p11.2 2 89948063A> C null S R 52 52 missense 0.098 benign 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs753489991 2p11.2 2 89948064G> C null S T 52 52 missense 0.009 benign 0.04 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs112777109 2p11.2 2 89948067A> G null D G 53 53 missense 0.003 benign 0.09 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs112777109 2p11.2 2 89948067A> T null D V 53 53 missense 0.359 benign 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs754547041 2p11.2 2 89948066G> T null D Y 53 53 missense 0.019 benign 0.06 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1157074244 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89948070G> A null G E 54 54 missense 0.311 benign 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1479108748 2p11.2 2 89948069G> A null G R 54 54 missense 0.311 benign 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ESP,gnomAD rs372497217 2p11.2 2 89948072A> T null K * 55 55 stop gained 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1363611221 2p11.2 2 89948074G> C null K N 55 55 missense 0.0 benign 1.0 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1160294778 2p11.2 2 89948073A> G null K R 55 55 missense 0.0 benign 0.12 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs540273794 2p11.2 2 89948083G> C null L F 58 58 2.0E-4 missense 0.661 possibly damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1323600067 2p11.2 2 89948082T> C null L S 58 58 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1308084528 2p11.2 2 89948085A> G null Y C 59 59 missense 0.704 possibly damaging 0.04 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1308084528 2p11.2 2 89948085A> T null Y F 59 59 missense 0.003 benign 0.14 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs565366991 2p11.2 2 89948084T> C null Y H 59 59 2.0E-4 missense 0.001 benign 0.89 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs565366991 2p11.2 2 89948084T> A null Y N 59 59 2.0E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs774473876 2p11.2 2 89948089G> A null W * 60 60 stop gained 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs774473876 2p11.2 2 89948089G> T null W C 60 60 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1241311912 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89948088G> T null W L 60 60 missense 0.672 possibly damaging 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs761863649 2p11.2 2 89948091A> G null Y C 61 61 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs761863649 2p11.2 2 89948091A> T null Y F 61 61 missense 0.091 benign 0.28 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1453420093 2p11.2 2 89948097A> G null Q R 63 63 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs773725854 2p11.2 2 89948100A> G null K R 64 64 missense 0.224 benign 0.08 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs532542677 2p11.2 2 89948102C> G null P A 65 65 2.0E-4 missense 0.101 benign 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs532542677 2p11.2 2 89948102C> T null P S 65 65 2.0E-4 missense 0.496 possibly damaging 0.07 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs753542941 2p11.2 2 89948105G> A null G S 66 66 missense 0.452 possibly damaging 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs764969708 2p11.2 2 89948108C> T null Q * 67 67 stop gained 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs424406 2p11.2 2 89948111C> T null P S 68 68 missense 0.0 benign 1.0 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs757886172 2p11.2 2 89948114C> G null P A 69 69 missense 0.303 benign 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs751457848 2p11.2 2 89948119G> T null Q H 70 70 missense 0.009 benign 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs777593564 2p11.2 2 89948118A> G null Q R 70 70 missense 0.0 benign 0.58 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed,gnomAD rs1448588272 2p11.2 2 89948120C> T null L F 71 71 missense 0.144 benign 0.08 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed,gnomAD rs1448588272 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89948120C> A null L I 71 71 missense 0.35 benign 0.04 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1311868527 2p11.2 2 89948121T> C null L P 71 71 missense 0.273 benign 0.04 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed,gnomAD rs1244631186 2p11.2 2 89948124T> A null L Q 72 72 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed,gnomAD rs978621658 2p11.2 2 89948127T> C null I T 73 73 missense 0.506 possibly damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ESP,ExAC,TOPMed,gnomAD rs372141550 2p11.2 2 89948130A> G null Y C 74 74 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201728510 2p11.2 2 89948129T> C null Y H 74 74 7.99E-4 missense 0.196 benign 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1423033174 2p11.2 2 89948136T> C null V A 76 76 missense 0.012 benign 0.82 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs529932843 2p11.2 2 89948135G> C null V L 76 76 2.0E-4 missense 0.007 benign 0.05 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ESP,ExAC,TOPMed,gnomAD rs375110679 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89948139C> T null S F 77 77 missense 0.918 probably damaging 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ESP,ExAC,TOPMed,gnomAD rs375110679 2p11.2 2 89948139C> A null S Y 77 77 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs380412 2p11.2 2 89948142A> T null N I 78 78 missense 0.052 benign 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs773603036 2p11.2 2 89948143C> G null N K 78 78 missense 0.019 benign 0.11 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs380412 2p11.2 2 89948142A> G null N S 78 78 missense 0.001 benign 0.2 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs771336977 2p11.2 2 89948145G> A null R Q 79 79 missense 0.031 benign 0.09 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369294397 2p11.2 2 89948144C> T null R W 79 79 2.0E-4 missense 0.098 benign 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs566659731 2p11.2 2 89948149C> G null F L 80 80 2.0E-4 missense 0.001 benign 0.65 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1219907047 2p11.2 2 89948153G> C null G R 82 82 missense 0.731 possibly damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs762383895 2p11.2 2 89948156G> T null V L 83 83 missense 0.535 possibly damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs762383895 2p11.2 2 89948156G> A null V M 83 83 missense 0.889 possibly damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1342747981 2p11.2 2 89948162G> C null D H 85 85 missense 0.302 benign 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1342747981 2p11.2 2 89948162G> A null D N 85 85 missense 0.116 benign 0.06 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371283282 2p11.2 2 89948166G> A null R K 86 86 0.001198 missense 0.5 possibly damaging 0.05 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs757280491 2p11.2 2 89948168T> G null F V 87 87 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes rs551927752 2p11.2 2 89948171A> G null S G 88 88 2.0E-4 missense 0.055 benign 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs767422953 2p11.2 2 89948175G> A null G D 89 89 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1254481021 2p11.2 2 89948174G> A null G S 89 89 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed,gnomAD rs1202797173 2p11.2 2 89948177A> G null S G 90 90 missense 0.875 possibly damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs570525352 2p11.2 2 89948180G> A null G R 91 91 2.0E-4 missense 0.635 possibly damaging 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs570525352 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89948180G> T null G W 91 91 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs537576922 2p11.2 2 89948183T> G null S A 92 92 0.02716 missense 0.051 benign 0.06 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1423668639 2p11.2 2 89948194T> G null D E 95 95 missense 0.211 benign 0.04 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1478521645 2p11.2 2 89948193A> G null D G 95 95 missense 0.503 possibly damaging 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1423654611 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89948192G> T null D Y 95 95 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,gnomAD rs555854623 2p11.2 2 89948196T> G null F C 96 96 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs777973067 2p11.2 2 89948197C> A null F L 96 96 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed,gnomAD rs943316767 2p11.2 2 89948198A> C null T P 97 97 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs747044923 2p11.2 2 89948202T> C null L P 98 98 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs771614214 2p11.2 2 89948204A> G null K E 99 99 missense 0.08 benign 0.05 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs746258220 2p11.2 2 89948208T> G null I S 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs770226131 2p11.2 2 89948211G> T null S I 101 101 missense 0.466 possibly damaging 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed rs775287456 2p11.2 2 89948213C> G null R G 102 102 missense 0.0 benign 0.06 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs200286905 2p11.2 2 89948214G> T null R L 102 102 7.99E-4 missense 0.005 benign 0.04 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs200286905 2p11.2 2 89948214G> C null R P 102 102 7.99E-4 missense 0.017 benign 0.07 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs200286905 2p11.2 2 89948214G> A null R Q 102 102 7.99E-4 missense 0.023 benign 0.04 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed rs775287456 2p11.2 2 89948213C> T null R W 102 102 missense 0.046 benign 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs761202321 2p11.2 2 89948220A> T null E V 104 104 missense 0.858 possibly damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed,gnomAD rs1406560016 2p11.2 2 89948225G> A null E K 106 106 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1290300111 2p11.2 2 89948230T> A null D E 107 107 missense 0.59 possibly damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs750308768 2p11.2 2 89948229A> G null D G 107 107 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201245337 2p11.2 2 89948231G> T null V F 108 108 2.0E-4 missense 0.096 benign 0.11 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201245337 2p11.2 2 89948231G> A null V I 108 108 2.0E-4 missense 0.009 benign 0.09 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs753568982 2p11.2 2 89948235G> C null G A 109 109 missense 0.054 benign 0.47 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs753568982 2p11.2 2 89948235G> A null G E 109 109 missense 0.442 benign 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs753568982 2p11.2 2 89948235G> T null G V 109 109 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 Ensembl,NCI-TCGA rs111423880 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89948237G> A null V I 110 110 missense 0.013 benign 0.17 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 Ensembl rs111423880 2p11.2 2 89948237G> C null V L 110 110 missense 0.019 benign 0.03 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed rs573495980 2p11.2 2 89948241A> G null Y C 111 111 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ESP,ExAC,gnomAD rs373343547 2p11.2 2 89948240T> C null Y H 111 111 missense 0.893 possibly damaging 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed rs573495980 2p11.2 2 89948241A> C null Y S 111 111 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 gnomAD rs1433372107 2p11.2 2 89948243T> C null Y H 112 112 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ESP,ExAC,TOPMed,gnomAD rs377360376 2p11.2 2 89948248C> A null C * 113 113 stop gained 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs781768046 2p11.2 2 89948247G> T null C F 113 113 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs781768046 2p11.2 2 89948247G> A null C Y 113 113 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs558707068 2p11.2 2 89948251G> T null M I 114 114 5.99E-4 missense 0.005 benign 0.38 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs558707068 2p11.2 2 89948251G> A null M I 114 114 5.99E-4 missense 0.005 benign 0.38 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs112555870 2p11.2 2 89948250T> A null M K 114 114 missense 0.063 benign 0.29 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs112555870 2p11.2 2 89948250T> C null M T 114 114 missense 0.003 benign 0.38 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ExAC,TOPMed,gnomAD rs577254629 2p11.2 2 89948252C> G null Q E 115 115 5.99E-4 missense 0.209 benign 0.01 deleterious 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs617191 2p11.2 2 89948255A> G null S G 116 116 missense 0.0 benign 1.0 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs773838205 2p11.2 2 89948256G> T null S I 116 116 missense 0.196 benign 0.17 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs773838205 2p11.2 2 89948256G> A null S N 116 116 missense 0.001 benign 0.28 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs771508365 2p11.2 2 89948257T> A null S R 116 116 missense 0.03 benign 0.19 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs771508365 2p11.2 2 89948257T> G null S R 116 116 missense 0.03 benign 0.19 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs760669823 2p11.2 2 89948260A> G null I M 117 117 missense 0.125 benign 0.19 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,gnomAD rs773135159 2p11.2 2 89948259T> C null I T 117 117 missense 0.0 benign 0.71 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369466983 2p11.2 2 89948261C> T null Q * 118 118 2.0E-4 stop gained 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs617203 2p11.2 2 89948263G> T null Q H 118 118 missense 0.001 benign 1.0 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 ExAC,TOPMed,gnomAD rs617203 2p11.2 2 89948263G> C null Q H 118 118 missense 0.001 benign 1.0 tolerated 0 A0A075B6S2 IGKV2D-29 Immunoglobulin kappa variable 2D-29 TOPMed rs1477794366 2p11.2 2 89948267C> T null P S 120 120 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1241503034 2p11.2 2 90082821C> A null D E 2 2 missense 0.166 benign 0.05 tolerated - low confidence 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1241503034 2p11.2 2 90082821C> G null D E 2 2 missense 0.166 benign 0.05 tolerated - low confidence 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1312437434 2p11.2 2 90082819G> C null D H 2 2 missense 0.971 probably damaging 0.01 deleterious - low confidence 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs200436385 2p11.2 2 90082826G> A null R K 4 4 missense 0.026 benign 0.04 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC rs748353252 2p11.2 2 90082828G> C null V L 5 5 missense 0.013 benign 0.14 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs772329632 2p11.2 2 90082831C> G null P A 6 6 missense 0.109 benign 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs773381536 2p11.2 2 90082832C> T null P L 6 6 missense 0.109 benign 0.05 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,NCI-TCGA,TOPMed,gnomAD rs772329632 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90082831C> T null P S 6 6 missense 0.115 benign 0.06 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1177492645 2p11.2 2 90082834G> A null A T 7 7 missense 0.015 benign 0.58 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs777067569 2p11.2 2 90082837C> T null Q * 8 8 stop gained 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1162341695 2p11.2 2 90082839G> C null Q H 8 8 missense 0.076 benign 0.07 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs759878365 2p11.2 2 90082841T> A null L H 9 9 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs759878365 2p11.2 2 90082841T> C null L P 9 9 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs759878365 2p11.2 2 90082841T> G null L R 9 9 missense 0.157 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 Ensembl rs1558583008 2p11.2 2 90082844T> G null L R 10 10 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1406815614 2p11.2 2 90082849C> T null L F 12 12 missense 0.214 benign 0.19 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373550250 2p11.2 2 90082862G> A null W * 16 16 5.99E-4 stop gained 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1464082573 2p11.2 2 90082863G> T null W C 16 16 missense 0.038 benign 0.09 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs928824182 2p11.2 2 90082868C> T null P L 18 18 missense 0.109 benign 0.04 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377409167 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90082867C> T null P S 18 18 missense 0.08 benign 0.36 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,TOPMed,gnomAD rs572596431 2p11.2 2 90082999C> A null A D 20 20 2.0E-4 missense 0.061 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed rs781307802 2p11.2 2 90082998G> A null A T 20 20 missense 0.038 benign 0.17 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,TOPMed,gnomAD rs572596431 2p11.2 2 90082999C> T null A V 20 20 2.0E-4 missense 0.015 benign 0.21 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs768991692 2p11.2 2 90083002G> A null R K 21 21 missense 0.026 benign 0.09 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs2693227 2p11.2 2 90083003A> T null R S 21 21 missense 0.065 benign 0.11 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs768991692 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083002G> C null R T 21 21 missense 0.554 possibly damaging 0.08 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1216376089 2p11.2 2 90083006T> A null C * 22 22 stop gained 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs1852250 2p11.2 2 90083007A> G null N D 23 23 missense 0.0 benign 1.0 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 Ensembl rs1558583134 2p11.2 2 90083011T> A null I N 24 24 missense 0.533 possibly damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,NCI-TCGA,gnomAD rs760696347 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083018G> A null M I 26 26 missense 0.176 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC rs772741608 2p11.2 2 90083016A> G null M V 26 26 missense 0.048 benign 0.09 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1351604404 2p11.2 2 90083019A> C null T P 27 27 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs371301606 2p11.2 2 90083022C> G null Q E 28 28 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1378732230 2p11.2 2 90083026C> G null S C 29 29 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs765096143 2p11.2 2 90083029C> T null P L 30 30 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1402546904 2p11.2 2 90083034G> T null A S 32 32 missense 0.0 benign 1.0 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs751775762 2p11.2 2 90083035C> T null A V 32 32 missense 0.003 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,NCI-TCGA,TOPMed,gnomAD rs781161404 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083039G> A null M I 33 33 missense 0.0 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1434201782 2p11.2 2 90083037A> C null M L 33 33 missense 0.0 benign 1.0 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs757450294 2p11.2 2 90083038T> C null M T 33 33 missense 0.001 benign 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs745893100 2p11.2 2 90083040T> A null S T 34 34 missense 0.488 possibly damaging 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs756622140 2p11.2 2 90083043G> A null A T 35 35 missense 0.441 benign 0.04 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs780593197 2p11.2 2 90083047C> T null S F 36 36 missense 0.628 possibly damaging 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1440886255 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083053G> A null G E 38 38 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1158527266 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083052G> A null G R 38 38 missense 0.805 possibly damaging 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1185939580 2p11.2 2 90083058A> G null R G 40 40 missense 0.473 possibly damaging 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1246642433 2p11.2 2 90083059G> C null R T 40 40 missense 0.011 benign 0.59 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs747790254 2p11.2 2 90083062T> A null V D 41 41 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs774731573 2p11.2 2 90083061G> T null V F 41 41 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs774731573 2p11.2 2 90083061G> A null V I 41 41 missense 0.57 possibly damaging 0.04 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1236484546 2p11.2 2 90083065C> T null T I 42 42 missense 0.635 possibly damaging 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1439280918 2p11.2 2 90083068T> A null I N 43 43 missense 0.546 possibly damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1439280918 2p11.2 2 90083068T> C null I T 43 43 missense 0.343 benign 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs772615633 2p11.2 2 90083071C> T null T I 44 44 missense 0.245 benign 0.04 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs772615633 2p11.2 2 90083071C> A null T N 44 44 missense 0.109 benign 0.19 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs772615633 2p11.2 2 90083071C> G null T S 44 44 missense 0.049 benign 0.36 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1163944681 2p11.2 2 90083073T> C null C R 45 45 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs368751742 2p11.2 2 90083074G> C null C S 45 45 missense 0.846 possibly damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1462996395 2p11.2 2 90083075T> G null C W 45 45 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182773099 2p11.2 2 90083077G> C null R P 46 46 9.98E-4 missense 0.067 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs182773099 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083077G> A null R Q 46 46 9.98E-4 missense 0.02 benign 0.46 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370157163 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083076C> T null R W 46 46 3.99E-4 missense 0.067 benign 0.04 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201456368 2p11.2 2 90083080C> A null A E 47 47 3.99E-4 missense 0.486 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201456368 2p11.2 2 90083080C> T null A V 47 47 3.99E-4 missense 0.308 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1280941932 2p11.2 2 90083083G> A null R K 48 48 missense 0.001 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,TOPMed,gnomAD rs1852249 2p11.2 2 90083084G> T null R S 48 48 0.2438 missense 0.0 benign 1.0 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs755440538 2p11.2 2 90083089G> C null G A 50 50 missense 0.051 benign 0.07 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs755440538 2p11.2 2 90083089G> A null G D 50 50 missense 0.007 benign 0.67 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs372063964 2p11.2 2 90083088G> A null G S 50 50 missense 0.013 benign 1.0 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs755440538 2p11.2 2 90083089G> T null G V 50 50 missense 0.051 benign 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1229212499 2p11.2 2 90083091A> T null I F 51 51 missense 0.409 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs748491000 2p11.2 2 90083093T> G null I M 51 51 missense 0.926 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1476987659 2p11.2 2 90083092T> C null I T 51 51 missense 0.361 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs368974047 2p11.2 2 90083094A> G null S G 52 52 missense 0.003 benign 0.27 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs777549077 2p11.2 2 90083095G> T null S I 52 52 missense 0.346 benign 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs777549077 2p11.2 2 90083095G> A null S N 52 52 missense 0.003 benign 0.31 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs776229991 2p11.2 2 90083096C> G null S R 52 52 missense 0.018 benign 0.08 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs777549077 2p11.2 2 90083095G> C null S T 52 52 missense 0.018 benign 0.1 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,TOPMed,gnomAD rs561714599 2p11.2 2 90083098A> G null N S 53 53 7.99E-4 missense 0.005 benign 0.79 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs775161447 2p11.2 2 90083102T> A null Y * 54 54 stop gained 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs775161447 2p11.2 2 90083102T> G null Y * 54 54 stop gained 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1269580965 2p11.2 2 90083101A> G null Y C 54 54 missense 0.025 benign 0.08 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1471662883 2p11.2 2 90083100T> G null Y D 54 54 missense 0.005 benign 0.14 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1476145192 2p11.2 2 90083107C> A null A D 56 56 missense 0.011 benign 0.28 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs763788311 2p11.2 2 90083106G> C null A P 56 56 missense 0.506 possibly damaging 0.11 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs763788311 2p11.2 2 90083106G> T null A S 56 56 missense 0.013 benign 0.46 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1410046992 2p11.2 2 90083110G> A null W * 57 57 stop gained 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs760862180 2p11.2 2 90083109T> G null W G 57 57 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1410046992 2p11.2 2 90083110G> C null W S 57 57 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,TOPMed,gnomAD rs187848729 2p11.2 2 90083118C> T null Q * 60 60 2.0E-4 stop gained 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,TOPMed,gnomAD rs187848729 2p11.2 2 90083118C> G null Q E 60 60 2.0E-4 missense 0.165 benign 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs779536545 2p11.2 2 90083120G> C null Q H 60 60 missense 0.231 benign 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,TOPMed,gnomAD rs187848729 2p11.2 2 90083118C> A null Q K 60 60 2.0E-4 missense 0.165 benign 0.05 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191806633 2p11.2 2 90083119A> G null Q R 60 60 0.001597 missense 0.231 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1235662811 2p11.2 2 90083124C> G null P A 62 62 missense 0.246 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs758837774 2p11.2 2 90083125C> T null P L 62 62 missense 0.246 benign 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs758837774 2p11.2 2 90083125C> G null P R 62 62 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1235662811 2p11.2 2 90083124C> T null P S 62 62 missense 0.361 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs551587109 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083128G> A null G E 63 63 2.0E-4 missense 0.414 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1476401963 2p11.2 2 90083134T> C null V A 65 65 missense 0.0 benign 1.0 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1171660949 2p11.2 2 90083133G> T null V F 65 65 missense 0.11 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs745316258 2p11.2 2 90083136C> G null P A 66 66 missense 0.537 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs745316258 2p11.2 2 90083136C> T null P S 66 66 missense 0.956 probably damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1452153662 2p11.2 2 90083141G> T null K N 67 67 missense 0.331 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs2693226 2p11.2 2 90083143A> T null H L 68 68 missense 0.0 benign 1.0 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs2693226 2p11.2 2 90083143A> C null H P 68 68 missense 0.0 benign 0.05 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs370136638 2p11.2 2 90083144C> A null H Q 68 68 missense 0.0 benign 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs2693226 2p11.2 2 90083143A> G null H R 68 68 missense 0.0 benign 0.05 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1257952822 2p11.2 2 90083142C> T null H Y 68 68 missense 0.003 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 Ensembl rs1195423693 2p11.2 2 90083146T> C null L P 69 69 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373315271 2p11.2 2 90083148A> T null I F 70 70 3.99E-4 missense 0.331 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373315271 2p11.2 2 90083148A> C null I L 70 70 3.99E-4 missense 0.166 benign 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs759732399 2p11.2 2 90083150C> G null I M 70 70 missense 0.689 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs754046975 2p11.2 2 90083149T> C null I T 70 70 missense 0.361 benign 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs753299464 2p11.2 2 90083152A> G null Y C 71 71 missense 0.186 benign 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs765203781 2p11.2 2 90083151T> G null Y D 71 71 missense 0.097 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs199601054 2p11.2 2 90083154G> C null A P 72 72 missense 0.318 benign 0.25 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs199601054 2p11.2 2 90083154G> A null A T 72 72 missense 0.024 benign 0.5 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1444946911 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083158C> A null A E 73 73 missense 0.348 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182889841 2p11.2 2 90083157G> T null A S 73 73 0.005591 missense 0.259 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs751902551 2p11.2 2 90083161C> G null S C 74 74 missense 0.871 possibly damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs751902551 2p11.2 2 90083161C> T null S F 74 74 missense 0.122 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs764581455 2p11.2 2 90083160T> C null S P 74 74 missense 0.061 benign 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs370744331 2p11.2 2 90083163A> G null S G 75 75 missense 0.007 benign 0.06 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1343033917 2p11.2 2 90083164G> C null S T 75 75 missense 0.005 benign 0.54 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1233772839 2p11.2 2 90083167T> A null L * 76 76 stop gained 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1281311971 2p11.2 2 90083168G> T null L F 76 76 missense 0.637 possibly damaging 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1349735520 2p11.2 2 90083169C> T null Q * 77 77 stop gained 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1214208355 2p11.2 2 90083173G> A null S N 78 78 missense 0.813 possibly damaging 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1260837307 2p11.2 2 90083176G> C null G A 79 79 missense 0.83 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1260837307 2p11.2 2 90083176G> A null G E 79 79 missense 0.737 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1436096029 2p11.2 2 90083178G> A null V I 80 80 missense 0.154 benign 0.15 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs755689747 2p11.2 2 90083185C> A null S * 82 82 stop gained 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs755689747 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083185C> T null S L 82 82 missense 0.165 benign 0.04 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs745511145 2p11.2 2 90083184T> C null S P 82 82 missense 0.165 benign 0.04 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs200621420 2p11.2 2 90083188G> A null R K 83 83 missense 0.165 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs768414036 2p11.2 2 90083189G> T null R S 83 83 missense 0.491 possibly damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs768414036 2p11.2 2 90083189G> C null R S 83 83 missense 0.491 possibly damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs200621420 2p11.2 2 90083188G> C null R T 83 83 missense 0.85 possibly damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,NCI-TCGA,gnomAD rs747996565 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083194G> T null S I 85 85 missense 0.669 possibly damaging 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,TOPMed,gnomAD rs187567710 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083195C> A null S R 85 85 0.002196 missense 0.433 benign 0.04 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs567222572 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083196G> A null G S 86 86 5.99E-4 missense 0.83 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs759658002 2p11.2 2 90083200G> T null S I 87 87 missense 0.463 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370239307 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083203G> A null G E 88 88 2.0E-4 missense 0.414 benign 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs375935517 2p11.2 2 90083202G> A null G R 88 88 missense 0.496 possibly damaging 0.05 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1373439637 2p11.2 2 90083205T> G null S A 89 89 missense 0.324 benign 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1373439637 2p11.2 2 90083205T> C null S P 89 89 missense 0.505 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs763518654 2p11.2 2 90083208G> C null G R 90 90 missense 0.619 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,TOPMed,gnomAD rs552831187 2p11.2 2 90083212C> T null T I 91 91 2.0E-4 missense 0.546 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,TOPMed,gnomAD rs552831187 2p11.2 2 90083212C> G null T R 91 91 2.0E-4 missense 0.246 benign 0.05 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs752096262 2p11.2 2 90083216A> T null E D 92 92 missense 0.0 benign 1.0 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs374406464 2p11.2 2 90083219C> A null F L 93 93 missense 0.213 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1206760552 2p11.2 2 90083217T> C null F L 93 93 missense 0.213 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1206760552 2p11.2 2 90083217T> G null F V 93 93 missense 0.752 possibly damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ExAC,gnomAD rs193008187 2p11.2 2 90083221C> T null T I 94 94 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs750138359 2p11.2 2 90083223C> T null L F 95 95 missense 0.433 benign 0.1 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs755672001 2p11.2 2 90083224T> C null L P 95 95 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs755672001 2p11.2 2 90083224T> G null L R 95 95 missense 0.728 possibly damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs779644135 2p11.2 2 90083226A> G null T A 96 96 missense 0.433 benign 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1471604375 2p11.2 2 90083227C> T null T I 96 96 missense 0.895 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs778889702 2p11.2 2 90083231C> G null I M 97 97 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs754472308 2p11.2 2 90083229A> G null I V 97 97 missense 0.662 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs772945355 2p11.2 2 90083237C> A null S R 99 99 missense 0.926 probably damaging 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,gnomAD rs367584593 2p11.2 2 90083235A> C null S R 99 99 missense 0.926 probably damaging 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1326623256 2p11.2 2 90083239T> C null L P 100 100 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed rs1353689562 2p11.2 2 90083245C> T null P L 102 102 missense 0.109 benign 0.03 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,gnomAD rs372816547 2p11.2 2 90083244C> T null P S 102 102 missense 0.176 benign 0.18 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201600177 2p11.2 2 90083249A> T null E D 103 103 0.01498 missense 0.318 benign 0.13 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1336054851 2p11.2 2 90083247G> A null E K 103 103 missense 0.537 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs762997520 2p11.2 2 90083252T> A null D E 104 104 missense 0.433 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1282305100 2p11.2 2 90083250G> T null D Y 104 104 missense 0.619 possibly damaging 0.01 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs764260437 2p11.2 2 90083259A> G null T A 107 107 missense 0.048 benign 0.07 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1474068464 2p11.2 2 90083262T> C null Y H 108 108 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs775037510 2p11.2 2 90083263A> C null Y S 108 108 missense 0.943 probably damaging 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1250835378 2p11.2 2 90083268T> G null C G 110 110 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 Ensembl rs1558583480 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083269G> A null C Y 110 110 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 gnomAD rs1184401066 2p11.2 2 90083271C> A null L I 111 111 missense 0.007 benign 0.05 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs750711668 2p11.2 2 90083272T> A null L Q 111 111 missense 0.001 benign 1.0 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs760390552 2p11.2 2 90083274C> G null Q E 112 112 missense 0.176 benign 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1396712608 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083276G> T null Q H 112 112 missense 0.109 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs760390552 2p11.2 2 90083274C> A null Q K 112 112 missense 0.109 benign 0.02 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs766006052 2p11.2 2 90083277C> G null H D 113 113 missense 0.0 benign 0.19 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs753524436 2p11.2 2 90083278A> C null H P 113 113 missense 0.168 benign 0.13 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs753524436 2p11.2 2 90083278A> G null H R 113 113 missense 0.003 benign 0.24 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs766006052 2p11.2 2 90083277C> T null H Y 113 113 missense 0.0 benign 1.0 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ESP,ExAC,TOPMed,gnomAD rs199925297 2p11.2 2 90083280A> G null N D 114 114 missense 0.003 benign 0.34 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,TOPMed,gnomAD rs758295403 2p11.2 2 90083284G> A null S N 115 115 missense 0.007 benign 0.29 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1354651273 2p11.2 2 90083288C> A null Y * 116 116 stop gained 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,gnomAD rs777630806 2p11.2 2 90083287A> T null Y F 116 116 missense 0.003 benign 0.56 tolerated 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1322771026 2p11.2 2 90083289C> G null P A 117 117 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 ExAC,NCI-TCGA rs746721782 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90083290C> A null P H 117 117 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6S4 IGKV1D-17 Immunoglobulin kappa variable 1D-17 TOPMed,gnomAD rs1322771026 2p11.2 2 90083289C> A null P T 117 117 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1381344797 2p11.2 2 89213894C> T null D N 2 2 missense 0.85 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1381344797 2p11.2 2 89213894C> A null D Y 2 2 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs755820695 2p11.2 2 89213891T> A null M L 3 3 missense 0.048 benign 0.02 deleterious - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1434247937 2p11.2 2 89213890A> G null M T 3 3 missense 0.109 benign 0.03 deleterious - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs755820695 2p11.2 2 89213891T> C null M V 3 3 missense 0.07 benign 0.03 deleterious - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1373834756 2p11.2 2 89213888T> C null R G 4 4 missense 0.061 benign 0.1 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs745460084 2p11.2 2 89213887C> T null R K 4 4 missense 0.026 benign 0.05 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs757625581 2p11.2 2 89213886C> A null R S 4 4 missense 0.102 benign 0.05 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,TOPMed,gnomAD rs563163365 2p11.2 2 89213884A> G null V A 5 5 2.0E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs751963802 2p11.2 2 89213885C> A null V F 5 5 missense 0.018 benign 0.09 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1426655319 2p11.2 2 89213881G> C null P R 6 6 missense 0.157 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,NCI-TCGA,TOPMed,gnomAD rs778478221 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213882G> A null P S 6 6 missense 0.109 benign 0.05 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1396228891 2p11.2 2 89213879C> T null A T 7 7 missense 0.015 benign 0.48 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs752867308 2p11.2 2 89213873G> A null L F 9 9 missense 0.108 benign 0.24 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,gnomAD rs368229834 2p11.2 2 89213869A> T null L Q 10 10 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1343249466 2p11.2 2 89213860A> T null L Q 13 13 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1251112980 2p11.2 2 89213857A> G null L P 14 14 missense 0.486 possibly damaging 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs577004736 2p11.2 2 89213855G> A null L F 15 15 7.99E-4 missense 0.632 possibly damaging 0.08 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs577004736 2p11.2 2 89213855G> T null L I 15 15 7.99E-4 missense 0.662 possibly damaging 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,TOPMed,gnomAD rs539140111 2p11.2 2 89213850C> G null W C 16 16 2.0E-4 missense 0.109 benign 0.09 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs539140111 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213850C> A null W C 16 16 2.0E-4 missense 0.109 benign 0.09 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs557479814 2p11.2 2 89213851C> A null W L 16 16 3.99E-4 missense 0.109 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs769125561 2p11.2 2 89213849G> A null L F 17 17 missense 0.07 benign 0.24 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed rs1159521520 2p11.2 2 89213845G> A null P L 18 18 missense 0.109 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs760329704 2p11.2 2 89213717A> C null D E 19 19 missense 0.039 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs548309096 2p11.2 2 89213718T> C null D G 19 19 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs548309096 2p11.2 2 89213718T> A null D V 19 19 2.0E-4 missense 0.0 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC rs772836998 2p11.2 2 89213716T> C null T A 20 20 missense 0.0 benign 1.0 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs767124175 2p11.2 2 89213715G> A null T I 20 20 missense 0.001 benign 0.05 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs767124175 2p11.2 2 89213715G> T null T N 20 20 missense 0.001 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1375640597 2p11.2 2 89213712C> T null R K 21 21 missense 0.048 benign 0.09 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1433198322 2p11.2 2 89213710A> T null C S 22 22 missense 0.102 benign 0.07 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs774601357 2p11.2 2 89213709C> T null C Y 22 22 missense 0.091 benign 0.12 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,TOPMed,gnomAD rs530092427 2p11.2 2 89213704T> A null I F 24 24 5.99E-4 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,TOPMed,gnomAD rs530092427 2p11.2 2 89213704T> G null I L 24 24 5.99E-4 missense 0.165 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1475373319 2p11.2 2 89213703A> G null I T 24 24 missense 0.165 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,TOPMed,gnomAD rs530092427 2p11.2 2 89213704T> C null I V 24 24 5.99E-4 missense 0.108 benign 0.07 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1240926481 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2p11.2 2 89213701G> A null Q * 25 25 stop gained 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs770269759 2p11.2 2 89213699C> A null Q H 25 25 missense 0.187 benign 0.04 deleterious - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs776041711 2p11.2 2 89213700T> A null Q L 25 25 missense 0.061 benign 0.08 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs776041711 2p11.2 2 89213700T> C null Q R 25 25 missense 0.061 benign 0.1 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1257027204 2p11.2 2 89213698T> G null M L 26 26 missense 0.029 benign 0.25 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs368501103 2p11.2 2 89213686G> C null P A 30 30 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs747209887 2p11.2 2 89213685G> A null P L 30 30 missense 0.805 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs368501103 2p11.2 2 89213686G> T null P T 30 30 missense 0.909 probably damaging 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,NCI-TCGA,TOPMed,gnomAD rs754739659 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213682G> A null S F 31 31 missense 0.207 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs780200816 2p11.2 2 89213680A> C null S A 32 32 missense 0.061 benign 0.02 deleterious - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs780200816 2p11.2 2 89213680A> G null S P 32 32 missense 0.122 benign 0.01 deleterious - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1355562352 2p11.2 2 89213677G> T null L M 33 33 missense 0.574 possibly damaging 0.09 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes rs544504056 2p11.2 2 89213670G> T null A E 35 35 2.0E-4 missense 0.903 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,NCI-TCGA rs565138312 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213667G> A null S F 36 36 2.0E-4 missense 0.628 possibly damaging 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes rs577066557 2p11.2 2 89213668A> T null S T 36 36 2.0E-4 missense 0.455 possibly damaging 0.05 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC rs540396733 2p11.2 2 89213665C> T null V I 37 37 2.0E-4 missense 0.019 benign 0.15 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC rs540396733 2p11.2 2 89213665C> G null V L 37 37 2.0E-4 missense 0.007 benign 0.68 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs775806990 2p11.2 2 89213661C> G null G A 38 38 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1171551443 2p11.2 2 89213662C> T null G R 38 38 missense 0.632 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs553813144 2p11.2 2 89213657G> C null D E 39 39 2.0E-4 missense 0.118 benign 0.51 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1417954326 2p11.2 2 89213658T> C null D G 39 39 missense 0.246 benign 0.07 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes rs572060816 2p11.2 2 89213659C> G null D H 39 39 2.0E-4 missense 0.96 probably damaging 0.0 deleterious - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs770990017 2p11.2 2 89213654T> G null R S 40 40 missense 0.04 benign 0.09 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs541487438 2p11.2 2 89213655C> G null R T 40 40 2.0E-4 missense 0.009 benign 0.49 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1484151253 2p11.2 2 89213650T> C null T A 42 42 missense 0.246 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs778126535 2p11.2 2 89213649G> A null T I 42 42 missense 0.361 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs749147265 2p11.2 2 89213647T> A null I F 43 43 missense 0.231 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1437046375 2p11.2 2 89213645G> C null I M 43 43 missense 0.491 possibly damaging 0.09 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs749147265 2p11.2 2 89213647T> C null I V 43 43 missense 0.165 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1270736160 2p11.2 2 89213643G> C null T S 44 44 missense 0.054 benign 0.39 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1292131674 2p11.2 2 89213639G> T null C * 45 45 stop gained 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs756152366 2p11.2 2 89213640C> T null C Y 45 45 missense 0.537 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370122073 2p11.2 2 89213637C> G null R P 46 46 2.0E-4 missense 0.067 benign 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370122073 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213637C> T null R Q 46 46 2.0E-4 missense 0.02 benign 0.44 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376320689 2p11.2 2 89213638G> A null R W 46 46 2.0E-4 missense 0.067 benign 0.04 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs763853322 2p11.2 2 89213634G> T null A E 47 47 missense 0.296 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs763853322 2p11.2 2 89213634G> A null A V 47 47 missense 0.165 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1328434568 2p11.2 2 89213632T> C null S G 48 48 missense 0.316 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs558809951 2p11.2 2 89213631C> T null S N 48 48 2.0E-4 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs760052986 2p11.2 2 89213630A> C null S R 48 48 missense 0.619 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs777131068 2p11.2 2 89213628T> G null Q P 49 49 missense 0.091 benign 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs777131068 2p11.2 2 89213628T> C null Q R 49 49 missense 0.091 benign 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs760867830 2p11.2 2 89213625C> G null G A 50 50 missense 0.031 benign 0.06 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs760867830 2p11.2 2 89213625C> T null G D 50 50 missense 0.003 benign 0.73 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 Ensembl rs1558728581 2p11.2 2 89213626C> T null G S 50 50 missense 0.003 benign 1.0 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs760867830 2p11.2 2 89213625C> A null G V 50 50 missense 0.031 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs773144734 2p11.2 2 89213623T> A null I F 51 51 missense 0.296 benign 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs773144734 2p11.2 2 89213623T> G null I L 51 51 missense 0.108 benign 0.04 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,TOPMed,gnomAD rs533954746 2p11.2 2 89213621A> C null I M 51 51 3.99E-4 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1480896917 2p11.2 2 89213622A> C null I S 51 51 missense 0.85 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1480896917 2p11.2 2 89213622A> G null I T 51 51 missense 0.255 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs773144734 2p11.2 2 89213623T> C null I V 51 51 missense 0.075 benign 0.28 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs775438347 2p11.2 2 89213620T> A null S C 52 52 missense 0.761 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs775438347 2p11.2 2 89213620T> C null S G 52 52 missense 0.0 benign 0.29 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,NCI-TCGA,gnomAD rs745652296 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213619C> T null S N 52 52 missense 0.007 benign 0.28 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs745652296 2p11.2 2 89213619C> G null S T 52 52 missense 0.03 benign 0.13 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs757117470 2p11.2 2 89213617T> C null N D 53 53 missense 0.005 benign 0.15 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC rs746567397 2p11.2 2 89213616T> A null N I 53 53 missense 0.021 benign 0.05 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1211243297 2p11.2 2 89213615A> T null N K 53 53 missense 0.003 benign 0.25 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC rs746567397 2p11.2 2 89213616T> C null N S 53 53 missense 0.003 benign 0.72 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC rs746567397 2p11.2 2 89213616T> G null N T 53 53 missense 0.003 benign 0.15 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs757117470 2p11.2 2 89213617T> A null N Y 53 53 missense 0.012 benign 0.07 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC rs758066250 2p11.2 2 89213613T> C null Y C 54 54 missense 0.025 benign 0.07 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC rs758066250 2p11.2 2 89213613T> A null Y F 54 54 missense 0.007 benign 0.29 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC rs758066250 2p11.2 2 89213613T> G null Y S 54 54 missense 0.005 benign 0.22 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1307206343 2p11.2 2 89213609T> G null L F 55 55 missense 0.728 possibly damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs752292271 2p11.2 2 89213607G> C null A G 56 56 missense 0.011 benign 0.19 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,TOPMed,gnomAD rs376200942 2p11.2 2 89213608C> G null A P 56 56 missense 0.506 possibly damaging 0.12 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,TOPMed,gnomAD rs376200942 2p11.2 2 89213608C> A null A S 56 56 missense 0.007 benign 0.46 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,TOPMed,gnomAD rs376200942 2p11.2 2 89213608C> T null A T 56 56 missense 0.031 benign 0.28 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs752292271 2p11.2 2 89213607G> A null A V 56 56 missense 0.031 benign 0.2 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1394345238 2p11.2 2 89213603C> G null W C 57 57 missense 0.935 probably damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1442162091 2p11.2 2 89213605A> G null W R 57 57 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs761057491 2p11.2 2 89213600A> C null Y * 58 58 stop gained 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs766960081 2p11.2 2 89213601T> C null Y C 58 58 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs766960081 2p11.2 2 89213601T> A null Y F 58 58 missense 0.316 benign 0.06 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs755405607 2p11.2 2 89213602A> G null Y H 58 58 missense 0.414 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1158574935 2p11.2 2 89213596G> A null Q * 60 60 stop gained 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,gnomAD rs530087877 2p11.2 2 89213594C> G null Q H 60 60 2.0E-4 missense 0.409 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,gnomAD rs568904949 2p11.2 2 89213593T> C null K E 61 61 2.0E-4 missense 0.213 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374594001 2p11.2 2 89213591T> G null K N 61 61 2.0E-4 missense 0.5 possibly damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,gnomAD rs568904949 2p11.2 2 89213593T> G null K Q 61 61 2.0E-4 missense 0.5 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs773372674 2p11.2 2 89213592T> C null K R 61 61 missense 0.213 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs774781690 2p11.2 2 89213590G> C null P A 62 62 missense 0.246 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs774781690 2p11.2 2 89213590G> A null P S 62 62 missense 0.361 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1214524567 2p11.2 2 89213582T> G null K N 64 64 missense 0.045 benign 0.06 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs770928647 2p11.2 2 89213583T> C null K R 64 64 missense 0.045 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs565201211 2p11.2 2 89213580A> G null V A 65 65 5.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs532685739 2p11.2 2 89213581C> A null V F 65 65 5.99E-4 missense 0.125 benign 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs565201211 2p11.2 2 89213580A> C null V G 65 65 5.99E-4 missense 0.001 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs532685739 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213581C> T null V I 65 65 5.99E-4 missense 0.001 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs532685739 2p11.2 2 89213581C> G null V L 65 65 5.99E-4 missense 0.015 benign 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs778599299 2p11.2 2 89213577G> T null P H 66 66 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs778599299 2p11.2 2 89213577G> C null P R 66 66 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1384422044 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213575T> C null K E 67 67 missense 0.246 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs754270195 2p11.2 2 89213573C> A null K N 67 67 missense 0.246 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs754270195 2p11.2 2 89213573C> G null K N 67 67 missense 0.246 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1384422044 2p11.2 2 89213575T> G null K Q 67 67 missense 0.361 benign 0.04 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1363359901 2p11.2 2 89213574T> G null K T 67 67 missense 0.246 benign 0.07 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199584389 2p11.2 2 89213572G> A null L F 68 68 2.0E-4 missense 0.109 benign 0.05 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199584389 2p11.2 2 89213572G> T null L I 68 68 2.0E-4 missense 0.579 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199584389 2p11.2 2 89213572G> C null L V 68 68 2.0E-4 missense 0.176 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs750828058 2p11.2 2 89213569G> T null L M 69 69 missense 0.838 possibly damaging 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1174531500 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213568A> G null L P 69 69 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs180686877 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213564G> C null I M 70 70 2.0E-4 missense 0.574 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1338096598 2p11.2 2 89213561A> T null Y * 71 71 stop gained 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs763040811 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213562T> C null Y C 71 71 missense 0.321 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs763040811 2p11.2 2 89213562T> A null Y F 71 71 missense 0.119 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1173787307 2p11.2 2 89213563A> T null Y N 71 71 missense 0.17 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs763040811 2p11.2 2 89213562T> G null Y S 71 71 missense 0.19 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs760668657 2p11.2 2 89213559G> T null A D 72 72 missense 0.001 benign 0.34 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs760668657 2p11.2 2 89213559G> C null A G 72 72 missense 0.001 benign 0.42 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs776505747 2p11.2 2 89213560C> A null A S 72 72 missense 0.003 benign 0.54 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs776505747 2p11.2 2 89213560C> T null A T 72 72 missense 0.007 benign 0.48 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs760668657 2p11.2 2 89213559G> A null A V 72 72 missense 0.005 benign 0.54 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs920363759 2p11.2 2 89213556G> T null A E 73 73 missense 0.422 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs773202894 2p11.2 2 89213557C> T null A T 73 73 missense 0.108 benign 0.11 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs920363759 2p11.2 2 89213556G> A null A V 73 73 missense 0.165 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs747709824 2p11.2 2 89213553G> A null S F 74 74 missense 0.094 benign 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1278631533 2p11.2 2 89213554A> T null S T 74 74 missense 0.02 benign 0.23 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs382893 2p11.2 2 89213551T> C null T A 75 75 0.03415 missense 0.024 benign 0.04 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs574544206 2p11.2 2 89213550G> A null T I 75 75 2.0E-4 missense 0.003 benign 0.11 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs574544206 2p11.2 2 89213550G> T null T N 75 75 2.0E-4 missense 0.0 benign 0.97 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs382893 2p11.2 2 89213551T> G null T P 75 75 0.03415 missense 0.144 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs574544206 2p11.2 2 89213550G> C null T S 75 75 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs376430810 2p11.2 2 89213547A> T null L * 76 76 stop gained 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs373456166 2p11.2 2 89213546C> A null L F 76 76 missense 0.423 benign 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs376430810 2p11.2 2 89213547A> G null L S 76 76 missense 0.606 possibly damaging 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1414403299 2p11.2 2 89213545G> C null Q E 77 77 missense 0.005 benign 0.6 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs556198540 2p11.2 2 89213543T> G null Q H 77 77 2.0E-4 missense 0.007 benign 0.48 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,gnomAD rs369014264 2p11.2 2 89213544T> C null Q R 77 77 missense 0.02 benign 0.13 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed rs1385251891 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213541G> A null S L 78 78 missense 0.479 possibly damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1463369259 2p11.2 2 89213542A> T null S T 78 78 missense 0.02 benign 0.35 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP rs374999560 2p11.2 2 89213535A> G null V A 80 80 missense 0.32 benign 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1419394599 2p11.2 2 89213533G> A null P S 81 81 missense 0.57 possibly damaging 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs372011808 2p11.2 2 89213527G> C null R G 83 83 missense 0.231 benign 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs772037997 2p11.2 2 89213526C> G null R P 83 83 missense 0.936 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,NCI-TCGA,TOPMed,gnomAD rs772037997 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213526C> T null R Q 83 83 missense 0.255 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs372011808 2p11.2 2 89213527G> A null R W 83 83 missense 0.546 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1481184963 2p11.2 2 89213523A> T null F Y 84 84 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1225896912 2p11.2 2 89213520C> T null S N 85 85 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs748826016 2p11.2 2 89213518C> T null G S 86 86 missense 0.83 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs779629163 2p11.2 2 89213515T> C null S G 87 87 missense 0.246 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1232800050 2p11.2 2 89213514C> A null S I 87 87 missense 0.463 possibly damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs779629163 2p11.2 2 89213515T> G null S R 87 87 missense 0.246 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1353761146 2p11.2 2 89213513A> C null S R 87 87 missense 0.246 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1309462376 2p11.2 2 89213512C> A null G * 88 88 stop gained 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1309462376 2p11.2 2 89213512C> G null G R 88 88 missense 0.292 benign 0.05 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1309462376 2p11.2 2 89213512C> T null G R 88 88 missense 0.292 benign 0.05 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1392866369 2p11.2 2 89213511C> A null G V 88 88 missense 0.292 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs769466202 2p11.2 2 89213509A> C null S A 89 89 missense 0.168 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs533776896 2p11.2 2 89213505C> T null G E 90 90 2.0E-4 missense 0.433 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed rs1351677677 2p11.2 2 89213506C> T null G R 90 90 missense 0.619 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1164984571 2p11.2 2 89213503T> C null T A 91 91 missense 0.246 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1366314736 2p11.2 2 89213498A> C null D E 92 92 missense 0.067 benign 0.09 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs554808568 2p11.2 2 89213500C> G null D H 92 92 2.0E-4 missense 0.2 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs752051687 2p11.2 2 89213494T> C null T A 94 94 missense 0.935 probably damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs752051687 2p11.2 2 89213494T> G null T P 94 94 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,TOPMed,gnomAD rs536763828 2p11.2 2 89213487G> A null T I 96 96 2.0E-4 missense 0.417 benign 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,TOPMed,gnomAD rs536763828 2p11.2 2 89213487G> C null T S 96 96 2.0E-4 missense 0.32 benign 0.04 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed rs1462751125 2p11.2 2 89213488T> A null T S 96 96 missense 0.32 benign 0.04 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs765431414 2p11.2 2 89213485T> C null I V 97 97 missense 0.57 possibly damaging 0.01 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs767251330 2p11.2 2 89213481C> T null S N 98 98 missense 0.166 benign 0.09 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ExAC,gnomAD rs568979980 2p11.2 2 89213480G> C null S R 98 98 3.99E-4 missense 0.246 benign 0.05 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs767251330 2p11.2 2 89213481C> G null S T 98 98 missense 0.361 benign 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1281429099 2p11.2 2 89213478C> T null S N 99 99 missense 0.109 benign 0.18 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed rs1442648578 2p11.2 2 89213476G> T null L M 100 100 missense 0.885 possibly damaging 0.06 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs376259708 2p11.2 2 89213473G> A null Q * 101 101 stop gained 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs769362542 2p11.2 2 89213469G> T null P H 102 102 missense 0.301 benign 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs769362542 2p11.2 2 89213469G> C null P R 102 102 missense 0.825 possibly damaging 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1460426582 2p11.2 2 89213464C> T null D N 104 104 missense 0.496 possibly damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1387965658 2p11.2 2 89213460A> G null V A 105 105 missense 0.003 benign 0.66 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1159872120 2p11.2 2 89213458C> A null A S 106 106 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed,gnomAD rs1159872120 2p11.2 2 89213458C> T null A T 106 106 missense 0.669 possibly damaging 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs745464713 2p11.2 2 89213457G> A null A V 106 106 missense 0.669 possibly damaging 0.02 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1177123553 2p11.2 2 89213455T> C null T A 107 107 missense 0.023 benign 0.07 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 TOPMed rs1451011035 2p11.2 2 89213454G> A null T I 107 107 missense 0.038 benign 0.13 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185552028 2p11.2 2 89213447G> T null Y * 109 109 0.004193 stop gained 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs747376439 2p11.2 2 89213448T> A null Y F 109 109 missense 0.154 benign 0.11 tolerated 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1449865944 2p11.2 2 89213446A> G null C R 110 110 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs779011432 2p11.2 2 89213438C> G null K N 112 112 missense 0.0 benign 0.03 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs754003914 2p11.2 2 89213435A> T null Y * 113 113 stop gained 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs375935196 2p11.2 2 89213436T> C null Y C 113 113 missense 0.007 benign 0.06 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs375935196 2p11.2 2 89213436T> A null Y F 113 113 missense 0.005 benign 0.21 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs767306174 2p11.2 2 89213432G> T null N K 114 114 missense 0.001 benign 0.19 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 gnomAD rs1349818979 2p11.2 2 89213434T> A null N Y 114 114 missense 0.0 benign 0.85 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,TOPMed,gnomAD rs751345239 2p11.2 2 89213428C> A null A S 116 116 missense 0.0 benign 0.46 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,NCI-TCGA,gnomAD rs763978638 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89213427G> A null A V 116 116 missense 0.001 benign 0.41 tolerated - low confidence 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs372798877 2p11.2 2 89213425G> C null P A 117 117 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ExAC,gnomAD rs759264297 2p11.2 2 89213424G> A null P L 117 117 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6S5 IGKV1-27 Immunoglobulin kappa variable 1-27 ESP,ExAC,TOPMed,gnomAD rs372798877 2p11.2 2 89213425G> A null P S 117 117 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ESP,ExAC,gnomAD rs369109325 2p11.2 2 89936898G> A null R K 2 2 missense 0.026 benign 0.14 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ESP,ExAC,gnomAD rs369109325 2p11.2 2 89936898G> T null R M 2 2 missense 0.261 benign 0.13 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs762253570 2p11.2 2 89936899G> T null R S 2 2 missense 0.102 benign 0.06 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs1384398071 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89936900C> T null L F 3 3 missense 0.012 benign 0.71 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185844838 2p11.2 2 89936901T> A null L H 3 3 0.01757 missense 0.072 benign 0.13 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185844838 2p11.2 2 89936901T> C null L P 3 3 0.01757 missense 0.796 possibly damaging 0.12 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs760134078 2p11.2 2 89936906G> C null A P 5 5 missense 0.856 possibly damaging 0.04 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs1282194098 2p11.2 2 89936907C> T null A V 5 5 missense 0.062 benign 0.12 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1284448705 2p11.2 2 89936910A> C null Q P 6 6 missense 0.045 benign 0.06 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs753783517 2p11.2 2 89936915C> G null L V 8 8 missense 0.883 possibly damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs1259599818 2p11.2 2 89936919G> C null G A 9 9 missense 0.883 possibly damaging 0.31 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs1259599818 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89936919G> A null G E 9 9 missense 0.973 probably damaging 0.16 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,TOPMed,gnomAD rs575074228 2p11.2 2 89936918G> T null G W 9 9 3.99E-4 missense 0.698 possibly damaging 0.24 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,NCI-TCGA,TOPMed,gnomAD rs752539702 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89936930C> T null L F 13 13 missense 0.324 benign 0.14 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1301139232 2p11.2 2 89936937T> C null V A 15 15 missense 0.013 benign 0.23 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1199144575 2p11.2 2 89936940C> T null P L 16 16 missense 0.168 benign 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs781304701 2p11.2 2 89936939C> T null P S 16 16 missense 0.079 benign 0.35 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1169130478 2p11.2 2 89937369G> A null G E 17 17 missense 0.361 benign 0.07 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs769776804 2p11.2 2 89936942G> C null G R 17 17 missense 0.546 possibly damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs776290457 2p11.2 2 89937372C> A null S Y 18 18 missense 0.759 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1381347827 2p11.2 2 89937375G> C null S T 19 19 missense 0.019 benign 0.33 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs866019565 2p11.2 2 89937378G> A null G E 20 20 missense 0.165 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs866019565 2p11.2 2 89937378G> T null G V 20 20 missense 0.491 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1230202031 2p11.2 2 89937381A> G null D G 21 21 missense 0.861 possibly damaging 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs762357503 2p11.2 2 89937384T> C null V A 22 22 missense 0.017 benign 0.03 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs775134169 2p11.2 2 89937383G> T null V F 22 22 missense 0.012 benign 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1251423716 2p11.2 2 89937391G> C null M I 24 24 missense 0.152 benign 0.03 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs1245104993 2p11.2 2 89937390T> G null M R 24 24 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs774122322 2p11.2 2 89937392A> G null T A 25 25 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1482283133 2p11.2 2 89937396A> G null Q R 26 26 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs761730272 2p11.2 2 89937402C> T null P L 28 28 missense 0.4 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1430095829 2p11.2 2 89937404C> T null L F 29 29 missense 0.03 benign 0.25 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1374196582 2p11.2 2 89937408C> T null S F 30 30 missense 0.17 benign 0.07 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1428507706 2p11.2 2 89937411T> A null L Q 31 31 missense 0.426 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs576481131 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89937416G> A null V I 33 33 3.99E-4 missense 0.047 benign 0.17 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,gnomAD rs543584153 2p11.2 2 89937422C> T null L F 35 35 2.0E-4 missense 0.021 benign 0.47 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1289113312 2p11.2 2 89937426G> T null G V 36 36 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs758382997 2p11.2 2 89937428C> A null Q K 37 37 missense 0.0 benign 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199937934 2p11.2 2 89937432C> T null P L 38 38 0.005791 missense 0.062 benign 0.17 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199937934 2p11.2 2 89937432C> A null P Q 38 38 0.005791 missense 0.104 benign 0.26 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1224719600 2p11.2 2 89937434G> A null A T 39 39 missense 0.24 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1377175036 2p11.2 2 89937435C> T null A V 39 39 missense 0.095 benign 0.78 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs779551699 2p11.2 2 89937444C> T null S F 42 42 missense 0.303 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs779551699 2p11.2 2 89937444C> A null S Y 42 42 missense 0.582 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs768009471 2p11.2 2 89937447G> T null C F 43 43 missense 0.727 possibly damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1267976972 2p11.2 2 89937446T> C null C R 43 43 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs768009471 2p11.2 2 89937447G> A null C Y 43 43 missense 0.727 possibly damaging 0.03 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs774366507 2p11.2 2 89937449A> G null R G 44 44 missense 0.089 benign 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1405100061 2p11.2 2 89937451G> C null R S 44 44 missense 0.649 possibly damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs761783608 2p11.2 2 89937453C> G null S C 45 45 missense 0.264 benign 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs201254451 2p11.2 2 89937458C> T null Q * 47 47 stop gained 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs773203521 2p11.2 2 89937460A> C null Q H 47 47 missense 0.03 benign 0.03 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1422424565 2p11.2 2 89937462G> A null S N 48 48 missense 0.039 benign 0.04 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs760529972 2p11.2 2 89937463C> G null S R 48 48 missense 0.315 benign 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,TOPMed,gnomAD rs540850512 2p11.2 2 89937464C> T null L F 49 49 5.99E-4 missense 0.141 benign 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs934301183 2p11.2 2 89937465T> A null L H 49 49 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs934301183 2p11.2 2 89937465T> C null L P 49 49 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370308310 2p11.2 2 89937468T> C null V A 50 50 2.0E-4 missense 0.058 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375935817 2p11.2 2 89937467G> A null V I 50 50 2.0E-4 missense 0.0 benign 0.06 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375935817 2p11.2 2 89937467G> T null V L 50 50 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,NCI-TCGA,TOPMed,gnomAD rs757827515 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89937470T> C null Y H 51 51 missense 0.0 benign 1.0 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs750839367 2p11.2 2 89937473A> C null S R 52 52 missense 0.098 benign 0.03 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs756406560 2p11.2 2 89937474G> C null S T 52 52 missense 0.01 benign 0.06 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs900598214 2p11.2 2 89937477A> G null D G 53 53 missense 0.025 benign 0.08 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,TOPMed,gnomAD rs544596031 2p11.2 2 89937480G> C null G A 54 54 5.99E-4 missense 0.057 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,TOPMed,gnomAD rs544596031 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89937480G> A null G E 54 54 5.99E-4 missense 0.17 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1231111880 2p11.2 2 89937483A> G null N S 55 55 missense 0.0 benign 0.33 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,TOPMed,gnomAD rs61672750 2p11.2 2 89937486C> T null T I 56 56 0.001597 missense 0.329 benign 0.05 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1409592628 2p11.2 2 89937489A> G null Y C 57 57 missense 0.418 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs768221780 2p11.2 2 89937488T> C null Y H 57 57 missense 0.32 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs747656525 2p11.2 2 89937495A> T null N I 59 59 missense 0.369 benign 0.07 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1242125797 2p11.2 2 89937499G> A null W * 60 60 stop gained 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs772192828 2p11.2 2 89937498G> A null W * 60 60 stop gained 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs772192828 2p11.2 2 89937498G> C null W S 60 60 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC rs530613062 2p11.2 2 89937503C> T null Q * 62 62 2.0E-4 stop gained 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1326020473 2p11.2 2 89937505G> C null Q H 62 62 missense 0.048 benign 0.13 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1353252816 2p11.2 2 89937506C> T null Q * 63 63 stop gained 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367612797 2p11.2 2 89937511G> T null R S 64 64 0.001797 missense 0.024 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374235714 2p11.2 2 89937510G> C null R T 64 64 5.99E-4 missense 0.091 benign 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,gnomAD rs529461120 2p11.2 2 89937512C> G null P A 65 65 2.0E-4 missense 0.088 benign 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,gnomAD rs529461120 2p11.2 2 89937512C> T null P S 65 65 2.0E-4 missense 0.413 benign 0.04 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,gnomAD rs529461120 2p11.2 2 89937512C> A null P T 65 65 2.0E-4 missense 0.459 possibly damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1297445897 2p11.2 2 89937516G> A null G D 66 66 missense 0.503 possibly damaging 0.04 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ESP,ExAC,TOPMed,gnomAD rs372840355 2p11.2 2 89937515G> C null G R 66 66 missense 0.731 possibly damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ESP,ExAC,TOPMed,gnomAD rs372840355 2p11.2 2 89937515G> A null G S 66 66 missense 0.557 possibly damaging 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1359805859 2p11.2 2 89937519A> G null Q R 67 67 missense 0.062 benign 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1332270811 2p11.2 2 89937522C> A null S Y 68 68 missense 0.849 possibly damaging 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375913148 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89937525C> T null P L 69 69 missense 0.949 probably damaging 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs766591539 2p11.2 2 89937527A> G null R G 70 70 missense 0.283 benign 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs753530145 2p11.2 2 89937528G> A null R K 70 70 missense 0.003 benign 1.0 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368396735 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89937530C> T null R C 71 71 5.99E-4 missense 0.011 benign 0.04 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs56038619 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89937531G> A null R H 71 71 0.003594 missense 0.012 benign 0.09 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs56038619 2p11.2 2 89937531G> C null R P 71 71 0.003594 missense 0.005 benign 0.05 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs757948660 2p11.2 2 89937540A> G null Y C 74 74 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs757948660 2p11.2 2 89937540A> T null Y F 74 74 missense 0.075 benign 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1446139458 2p11.2 2 89937539T> C null Y H 74 74 missense 0.217 benign 0.03 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1417864284 2p11.2 2 89937542A> C null K Q 75 75 missense 0.0 benign 0.64 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,gnomAD rs184425514 2p11.2 2 89937543A> C null K T 75 75 missense 0.006 benign 0.66 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1337895161 2p11.2 2 89937546T> C null V A 76 76 missense 0.018 benign 0.88 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs746887749 2p11.2 2 89937545G> A null V I 76 76 missense 0.01 benign 0.17 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs770765489 2p11.2 2 89937548T> A null S T 77 77 missense 0.027 benign 0.07 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs1336239402 2p11.2 2 89937551A> G null N D 78 78 missense 0.266 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1383783744 2p11.2 2 89937552A> T null N I 78 78 missense 0.113 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,gnomAD rs115486314 2p11.2 2 89937553C> G null N K 78 78 missense 0.028 benign 0.12 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ExAC,TOPMed,gnomAD rs147056147 2p11.2 2 89937554T> C null W R 79 79 missense 0.0 benign 1.0 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs774528904 2p11.2 2 89937559C> A null D E 80 80 missense 0.0 benign 0.28 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs774528904 2p11.2 2 89937559C> G null D E 80 80 missense 0.0 benign 0.28 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1215041194 2p11.2 2 89937558A> T null D V 80 80 missense 0.003 benign 0.5 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs1338544856 2p11.2 2 89937557G> T null D Y 80 80 missense 0.003 benign 1.0 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs761914936 2p11.2 2 89937564G> A null G E 82 82 missense 0.74 possibly damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1273355246 2p11.2 2 89937567T> C null V A 83 83 missense 0.602 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs895701255 2p11.2 2 89937566G> A null V I 83 83 missense 0.187 benign 0.2 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1337711083 2p11.2 2 89937569C> G null P A 84 84 missense 0.68 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376925419 2p11.2 2 89937570C> A null P Q 84 84 2.0E-4 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369396815 2p11.2 2 89937574C> A null D E 85 85 5.99E-4 missense 0.027 benign 0.06 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369396815 2p11.2 2 89937574C> G null D E 85 85 5.99E-4 missense 0.027 benign 0.06 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs757997512 2p11.2 2 89937580C> A null F L 87 87 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs752355963 2p11.2 2 89937579T> C null F S 87 87 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs777353588 2p11.2 2 89937581A> G null S G 88 88 missense 0.027 benign 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs757199433 2p11.2 2 89937584G> C null G R 89 89 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,NCI-TCGA,TOPMed,gnomAD rs757199433 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89937584G> A null G S 89 89 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs988472455 2p11.2 2 89937585G> T null G V 89 89 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs745694037 2p11.2 2 89937588G> T null S I 90 90 missense 0.635 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1316531895 2p11.2 2 89937589T> A null S R 90 90 missense 0.708 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1325579694 2p11.2 2 89937591G> A null G E 91 91 missense 0.751 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs944907234 2p11.2 2 89937590G> T null G W 91 91 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs774581828 2p11.2 2 89937593T> A null S T 92 92 missense 0.546 possibly damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs748309452 2p11.2 2 89937597G> A null G D 93 93 missense 0.614 possibly damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs760792067 2p11.2 2 89937603A> G null D G 95 95 missense 0.607 possibly damaging 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1346534593 2p11.2 2 89937612T> A null L Q 98 98 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs771390464 2p11.2 2 89937614A> T null K * 99 99 stop gained 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs771390464 2p11.2 2 89937614A> C null K Q 99 99 missense 0.088 benign 0.1 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1283123721 2p11.2 2 89937617A> C null I L 100 100 missense 0.849 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs759848019 2p11.2 2 89937618T> A null I N 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs765645833 2p11.2 2 89937620A> T null S C 101 101 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs752404955 2p11.2 2 89937621G> T null S I 101 101 missense 0.598 possibly damaging 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs752404955 2p11.2 2 89937621G> A null S N 101 101 missense 0.167 benign 0.07 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1461312227 2p11.2 2 89937623A> G null R G 102 102 missense 0.028 benign 0.09 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1461312227 2p11.2 2 89937623A> T null R W 102 102 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs751080069 2p11.2 2 89937627T> A null V E 103 103 missense 0.954 probably damaging 0.03 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs756764890 2p11.2 2 89937629G> T null E * 104 104 stop gained 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1256842335 2p11.2 2 89937630A> G null E G 104 104 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs756764890 2p11.2 2 89937629G> A null E K 104 104 missense 0.261 benign 0.04 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1479057503 2p11.2 2 89937632G> C null A P 105 105 missense 0.224 benign 0.31 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1479057503 2p11.2 2 89937632G> A null A T 105 105 missense 0.272 benign 0.04 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ESP,ExAC,TOPMed,gnomAD rs368888035 2p11.2 2 89937637G> C null E D 106 106 missense 0.044 benign 0.19 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs779754757 2p11.2 2 89937639A> G null D G 107 107 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed,gnomAD rs1401550836 2p11.2 2 89937638G> A null D N 107 107 missense 0.728 possibly damaging 0.02 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373442910 2p11.2 2 89937645G> A null G E 109 109 2.0E-4 missense 0.542 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1363515261 2p11.2 2 89937644G> A null G R 109 109 missense 0.623 possibly damaging 0.01 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 Ensembl rs1558893144 2p11.2 2 89937651A> G null Y C 111 111 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs778034138 2p11.2 2 89937650T> A null Y N 111 111 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,TOPMed,gnomAD rs747097839 2p11.2 2 89937658C> G null C W 113 113 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1350918027 2p11.2 2 89937661G> A null M I 114 114 missense 0.005 benign 0.39 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1350918027 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89937661G> T null M I 114 114 missense 0.005 benign 0.39 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1278505087 2p11.2 2 89937660T> A null M K 114 114 missense 0.005 benign 0.29 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1218388329 2p11.2 2 89937662C> T null Q * 115 115 stop gained 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs771000641 2p11.2 2 89937666G> C null G A 116 116 missense 0.0 benign 0.67 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs771000641 2p11.2 2 89937666G> A null G D 116 116 missense 0.003 benign 0.22 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1489969377 2p11.2 2 89937665G> A null G S 116 116 missense 0.007 benign 0.74 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 TOPMed rs1398277755 2p11.2 2 89937672A> G null H R 118 118 missense 0.003 benign 0.13 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,NCI-TCGA,gnomAD rs770422279 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89937671C> T null H Y 118 118 missense 0.001 benign 0.18 tolerated 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 ExAC,gnomAD rs776055872 2p11.2 2 89937675G> A null W * 119 119 stop gained 0 A0A075B6S6 IGKV2D-30 Immunoglobulin kappa variable 2D-30 gnomAD rs1470610014 2p11.2 2 89937676G> T null W C 119 119 missense 0.059 benign 0.13 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 ExAC,TOPMed,gnomAD rs201801834 2p11.2 2 89297720C> T null A T 7 7 missense 0.019 benign 0.46 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs1323212730 2p11.2 2 89297715C> G null Q H 8 8 missense 0.246 benign 0.06 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs1403814420 2p11.2 2 89297710A> G null L P 10 10 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs756427294 2p11.2 2 89297707C> T null G E 11 11 missense 0.331 benign 0.06 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs756427294 2p11.2 2 89297707C> A null G V 11 11 missense 0.246 benign 0.09 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1159238079 2p11.2 2 89297704A> G null L P 12 12 missense 0.61 possibly damaging 0.0 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs1379043902 2p11.2 2 89297699G> T null L M 14 14 missense 0.762 possibly damaging 0.1 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1333189823 2p11.2 2 89297557C> T null A T 20 20 missense 0.061 benign 0.16 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1338661305 2p11.2 2 89297548C> T null D N 23 23 missense 0.574 possibly damaging 0.01 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1216744393 2p11.2 2 89297545T> C null I V 24 24 missense 0.141 benign 0.09 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs934458299 2p11.2 2 89297540C> G null Q H 25 25 missense 0.352 benign 0.07 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1375484343 2p11.2 2 89297529G> C null S C 29 29 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1237599805 2p11.2 2 89297505A> G null V A 37 37 missense 0.058 benign 0.15 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs925789523 2p11.2 2 89297496C> G null R T 40 40 missense 0.017 benign 0.58 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1201391148 2p11.2 2 89297478C> A null R L 46 46 missense 0.022 benign 0.02 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1201391148 2p11.2 2 89297478C> T null R Q 46 46 missense 0.015 benign 0.41 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs200675982 2p11.2 2 89297479G> A null R W 46 46 missense 0.053 benign 0.03 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs1274040121 2p11.2 2 89297468C> G null Q H 49 49 missense 0.363 benign 0.02 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 Ensembl rs1558764253 2p11.2 2 89297466C> T null G D 50 50 missense 0.015 benign 0.67 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs1433967224 2p11.2 2 89297460C> G null S T 52 52 missense 0.092 benign 0.13 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1347207718 2p11.2 2 89297445C> T null W * 57 57 stop gained 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs1319190757 2p11.2 2 89297444C> A null W C 57 57 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1419228462 2p11.2 2 89297443A> C null Y D 58 58 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1419228462 2p11.2 2 89297443A> G null Y H 58 58 missense 0.698 possibly damaging 0.02 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1179681901 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89297439C> T null R Q 59 59 missense 0.0 benign 1.0 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1439152109 2p11.2 2 89297440G> A null R W 59 59 missense 0.696 possibly damaging 0.0 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 1000Genomes,ExAC,TOPMed,gnomAD rs547703838 2p11.2 2 89297430G> A null P L 62 62 7.99E-4 missense 0.489 possibly damaging 0.03 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1042929077 2p11.2 2 89297431G> T null P T 62 62 missense 0.624 possibly damaging 0.02 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs1186797486 2p11.2 2 89297419G> A null P S 66 66 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1403609236 2p11.2 2 89297412A> G null L P 68 68 missense 0.211 benign 0.05 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1331953737 2p11.2 2 89297399A> C null S R 72 72 missense 0.003 benign 0.37 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1398988427 2p11.2 2 89297398C> T null A T 73 73 missense 0.284 benign 0.11 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs11896202 2p11.2 2 89297391T> C null N S 75 75 missense 0.001 benign 0.85 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1425014690 2p11.2 2 89297383A> G null S P 78 78 missense 0.086 benign 0.1 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1189866222 2p11.2 2 89297367C> A null R L 83 83 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1189866222 2p11.2 2 89297367C> T null R Q 83 83 missense 0.529 possibly damaging 0.03 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1476571796 2p11.2 2 89297363G> C null F L 84 84 missense 0.848 possibly damaging 0.01 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 ExAC,gnomAD rs777204682 2p11.2 2 89297352C> A null G V 88 88 missense 0.763 possibly damaging 0.02 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1468708408 2p11.2 2 89297329T> A null T S 96 96 missense 0.529 possibly damaging 0.04 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs916573624 2p11.2 2 89297323T> G null S R 98 98 missense 0.372 benign 0.05 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 ExAC,TOPMed,gnomAD rs771271872 2p11.2 2 89297318G> T null S R 99 99 missense 0.246 benign 0.08 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1452461720 2p11.2 2 89297311G> A null P S 102 102 missense 0.067 benign 0.15 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1198392228 2p11.2 2 89297298G> T null A E 106 106 missense 0.821 possibly damaging 0.01 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1171049533 2p11.2 2 89297287C> A null G C 110 110 missense 0.0 benign 1.0 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1171049533 2p11.2 2 89297287C> T null G S 110 110 missense 0.0 benign 0.01 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1257352900 2p11.2 2 89297284G> C null Q E 111 111 missense 0.211 benign 0.03 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1257352900 2p11.2 2 89297284G> T null Q K 111 111 missense 0.211 benign 0.06 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 1000Genomes,ExAC,TOPMed,gnomAD rs535721815 2p11.2 2 89297280C> T null R Q 112 112 0.004193 missense 0.0 benign 1.0 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed,gnomAD rs1277775507 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 89297281G> A null R W 112 112 missense 0.583 possibly damaging 0.0 deleterious 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 1000Genomes,ExAC,TOPMed,gnomAD rs568643552 2p11.2 2 89297278T> C null T A 113 113 2.0E-4 missense 0.0 benign 0.5 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1321168964 2p11.2 2 89297273G> C null Y * 114 114 stop gained 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs1279144286 2p11.2 2 89297271T> C null N S 115 115 missense 0.005 benign 1.0 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs1399623291 2p11.2 2 89297269C> G null A P 116 116 missense 0.003 benign 0.21 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 gnomAD rs1399623291 2p11.2 2 89297269C> A null A S 116 116 missense 0.001 benign 0.46 tolerated 0 A0A075B6S9 IGKV1-37 Probable non-functional immunoglobulinn kappa variable 1-37 TOPMed rs1341927422 2p11.2 2 89297265G> A null P L 117 117 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs76419346 11p11.2 11 46548374C> A null V F 3 3 missense 0.693 possibly damaging 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1441069929 11p11.2 11 46548353C> G null V L 10 10 missense 0.98 probably damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1451283340 11p11.2 11 46548349C> T null R Q 11 11 missense 0.836 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1445981288 11p11.2 11 46548347T> A null I L 12 12 missense 0.927 probably damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs200949868 11p11.2 11 46548337C> T null G E 15 15 missense 0.914 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs753950470 11p11.2 11 46548328C> G null R P 18 18 missense 0.758 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs753950470 11p11.2 11 46548328C> T null R Q 18 18 missense 0.544 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs762242348 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46548329G> A null R W 18 18 missense 0.707 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1179741730 11p11.2 11 46548322G> T null A D 20 20 missense 0.063 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs371081938 11p11.2 11 46548320G> C null R G 21 21 missense 0.092 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,gnomAD rs775568948 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46548319C> T null R Q 21 21 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs371081938 11p11.2 11 46548320G> A null R W 21 21 missense 0.534 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs766252820 11p11.2 11 46548312C> T null M I 23 23 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1463453514 11p11.2 11 46548314T> C null M V 23 23 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs773072415 11p11.2 11 46548301C> T null R Q 27 27 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs377257005 11p11.2 11 46548302G> A null R W 27 27 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1286669933 11p11.2 11 46548299G> A null L F 28 28 missense 0.997 probably damaging 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs769879877 11p11.2 11 46548293G> C null Q E 30 30 missense 0.968 probably damaging 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs748044968 11p11.2 11 46548292T> C null Q R 30 30 missense 0.979 probably damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs776334268 11p11.2 11 46548288C> G null E D 31 31 missense 0.21 benign 0.28 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565283271 [NCI-TCGA]: Variant assessed as Somatic; impact. 11p11.2 11 46548284C> A null V L 33 33 missense 0.987 probably damaging 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs746745526 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p11.2 11 46548268C> T null R Q 38 38 missense 0.99 probably damaging 0.02 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1391264201 11p11.2 11 46548265C> G null W S 39 39 missense 0.387 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1373429463 11p11.2 11 46548263T> C null M V 40 40 missense 0.915 probably damaging 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC rs745474109 11p11.2 11 46547874C> A null R I 46 46 missense 0.466 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs779289074 11p11.2 11 46547862G> A null P L 50 50 missense 0.797 possibly damaging 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1368717891 11p11.2 11 46547860C> T null D N 51 51 missense 0.995 probably damaging 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs867103195 11p11.2 11 46547857T> C null S G 52 52 missense 0.389 benign 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs749851931 11p11.2 11 46547851G> A null R C 54 54 missense 0.997 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1175255825 11p11.2 11 46547832G> T null A D 60 60 missense 0.998 probably damaging 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs756575728 11p11.2 11 46547833C> T null A T 60 60 missense 0.995 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1426972741 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46547824G> A null P S 63 63 missense 0.998 probably damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1471706936 11p11.2 11 46547818T> C null R G 65 65 missense 0.985 probably damaging 0.58 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1330493698 11p11.2 11 46547295T> A null T S 66 66 missense 0.077 benign 0.08 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs760623358 11p11.2 11 46547286C> T null A T 69 69 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1181810747 11p11.2 11 46547285G> A null A V 69 69 missense 0.99 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs928133070 11p11.2 11 46547283A> T null S T 70 70 missense 0.969 probably damaging 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs774885684 11p11.2 11 46547270T> C null N S 74 74 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs771579046 11p11.2 11 46547268G> C null H D 75 75 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs146000898 11p11.2 11 46547258T> C null Y C 78 78 missense 0.997 probably damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1328894371 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46547252G> A null T M 80 80 missense 0.997 probably damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1240707959 11p11.2 11 46547249T> A null E V 81 81 missense 0.9 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs773978024 11p11.2 11 46547228A> G null V A 88 88 missense 0.116 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs770512698 11p11.2 11 46547226G> T null H N 89 89 missense 0.979 probably damaging 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1458404554 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46547222G> A null S F 90 90 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs749654901 11p11.2 11 46547217T> G null I L 92 92 missense 0.023 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs778157077 11p11.2 11 46547216A> G null I T 92 92 missense 0.088 benign 0.19 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs770221211 11p11.2 11 46547208G> A null R C 95 95 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs748662700 11p11.2 11 46547205G> A null R C 96 96 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1199574199 11p11.2 11 46547204C> T null R H 96 96 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1476945861 11p11.2 11 46547186G> A null T I 102 102 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs866163529 11p11.2 11 46547181G> A null H Y 104 104 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs755108395 11p11.2 11 46547178G> A null P S 105 105 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs755108395 11p11.2 11 46547178G> T null P T 105 105 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1171805665 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11p11.2 11 46547168G> C null S * 108 108 stop gained 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs950951400 11p11.2 11 46547159A> G null I T 111 111 missense 0.24 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1387696828 11p11.2 11 46547153G> C null S C 113 113 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs79810475 11p11.2 11 46547151C> T null G S 114 114 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs905077771 11p11.2 11 46547124A> G null W R 123 123 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,gnomAD rs370705966 11p11.2 11 46547118A> C null L V 125 125 missense 0.986 probably damaging 0.21 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs777495266 11p11.2 11 46545775C> T null G D 127 127 missense 0.999 probably damaging 0.05 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1271814191 11p11.2 11 46545769C> T null S N 129 129 missense 0.979 probably damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs915303630 11p11.2 11 46545763C> T null S N 131 131 missense 0.033 benign 0.13 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1204357368 11p11.2 11 46545745T> C null N S 137 137 missense 0.98 probably damaging 0.11 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs755923534 11p11.2 11 46545742T> C null N S 138 138 missense 0.304 benign 0.68 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1210034245 11p11.2 11 46545736A> G null I T 140 140 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs767445465 11p11.2 11 46545730G> C null S C 142 142 missense 0.997 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565279367 11p11.2 11 46545724G> T null A D 144 144 missense 0.998 probably damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs751089347 11p11.2 11 46545725C> A null A S 144 144 missense 0.994 probably damaging 0.11 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs751089347 11p11.2 11 46545725C> T null A T 144 144 missense 0.995 probably damaging 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 dbSNP rs1565279367 11p11.2 11 46545724G> A null A V 144 144 missense 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs780061196 11p11.2 11 46545719G> A null H Y 146 146 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs762629963 11p11.2 11 46545715G> A null P L 147 147 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs762629963 11p11.2 11 46545715G> C null P R 147 147 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1306185028 11p11.2 11 46545713T> C null T A 148 148 missense 0.987 probably damaging 0.14 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs772916345 cosmic curated [Cosmic]: prostate pubmed:22722839,cosmic_study:391 11p11.2 11 46545712G> A null T M 148 148 missense 0.998 probably damaging 0.05 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1397900963 11p11.2 11 46545709G> A null A V 149 149 missense 0.041 benign 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1354023827 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:413 11p11.2 11 46545707G> A null Q * 150 150 missense 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377436639 11p11.2 11 46545683T> C null N D 158 158 2.0E-4 missense 0.298 benign 0.1 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs550412246 11p11.2 11 46545682T> C null N S 158 158 2.0E-4 missense 0.015 benign 0.05 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1201947185 11p11.2 11 46545677T> A null I F 160 160 missense 0.421 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1275079787 11p11.2 11 46545652C> T null R Q 168 168 missense 0.511 possibly damaging 0.58 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,gnomAD rs772247866 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:416 11p11.2 11 46545653G> A null R W 168 168 missense 0.915 probably damaging 0.02 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed rs746133724 11p11.2 11 46545649T> G null E A 169 169 missense 0.987 probably damaging 0.11 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1198639362 11p11.2 11 46545641C> T null A T 172 172 missense 0.275 benign 0.21 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1344060333 11p11.2 11 46545640G> A null A V 172 172 missense 0.011 benign 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565279098 11p11.2 11 46545638C> G null V L 173 173 missense 0.269 benign 0.1 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1171477552 11p11.2 11 46545629T> G null T P 176 176 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1256327010 11p11.2 11 46545620C> G null E Q 179 179 missense 0.786 possibly damaging 0.17 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs779208772 11p11.2 11 46545617T> A null M L 180 180 missense 0.026 benign 0.66 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs757353536 11p11.2 11 46545611G> A null R W 182 182 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1460450756 11p11.2 11 46545605G> A null R C 184 184 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1297367927 11p11.2 11 46545604C> T null R H 184 184 missense 0.994 probably damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1458899391 11p11.2 11 46544025G> T null P T 190 190 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,gnomAD rs371672704 11p11.2 11 46544021A> G null L P 191 191 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed rs778238333 11p11.2 11 46544019C> G null G R 192 192 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1385856509 11p11.2 11 46544012T> C null Y C 194 194 missense 0.821 possibly damaging 0.15 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1446600860 11p11.2 11 46543998T> C null I V 199 199 missense 0.927 probably damaging 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs961468857 11p11.2 11 46543981A> T null N K 204 204 missense 0.991 probably damaging 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1279617163 11p11.2 11 46543977G> A null Q * 206 206 stop gained 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs764620287 11p11.2 11 46543975C> G null Q H 206 206 missense 0.991 probably damaging 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1215590124 11p11.2 11 46543391T> C null D G 209 209 missense 0.094 benign 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs777571634 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11p11.2 11 46543389C> T null E K 210 210 missense 0.415 benign 0.03 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs755788743 11p11.2 11 46543386G> A null P S 211 211 missense 0.0 benign 0.54 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1320300301 11p11.2 11 46543379A> C null I S 213 213 missense 0.346 benign 0.05 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs139294318 11p11.2 11 46543377G> C null P A 214 214 missense 0.127 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565276017 11p11.2 11 46543374T> G null I L 215 215 missense 0.0 benign 0.62 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1450649537 11p11.2 11 46543373A> C null I R 215 215 missense 0.221 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1229061044 11p11.2 11 46543347G> A null R C 224 224 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs760124943 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46543346C> T null R H 224 224 missense 0.994 probably damaging 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs752003088 11p11.2 11 46543343T> G null Q P 225 225 missense 0.775 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1422740960 11p11.2 11 46543341G> C null R G 226 226 missense 0.992 probably damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs774978894 cosmic curated [Cosmic]: ovary pubmed:22102435,cosmic_study:397 11p11.2 11 46543340C> T null R H 226 226 missense 0.994 probably damaging 0.04 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,gnomAD rs551266028 11p11.2 11 46543338C> A null A S 227 227 2.0E-4 missense 0.007 benign 0.79 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1269713019 11p11.2 11 46543335G> A null L F 228 228 missense 0.01 benign 0.22 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs868488160 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46543325G> A null S L 231 231 missense 0.178 benign 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1232848404 11p11.2 11 46543320G> A null P S 233 233 missense 0.961 probably damaging 0.17 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs773212919 11p11.2 11 46543314G> A null R C 235 235 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs761978177 11p11.2 11 46543310C> T null R Q 236 236 missense 0.986 probably damaging 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs770038320 11p11.2 11 46543311G> A null R W 236 236 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1323891349 11p11.2 11 46543292T> C null N S 242 242 missense 0.98 probably damaging 0.46 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs921320636 11p11.2 11 46543287G> C null L V 244 244 missense 0.416 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,gnomAD rs375152769 11p11.2 11 46543281T> C null M V 246 246 missense 0.015 benign 0.16 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1407501521 11p11.2 11 46543274G> C null S C 248 248 missense 0.983 probably damaging 0.31 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs368536116 cosmic curated [Cosmic]: large_intestine pubmed:17932254 11p11.2 11 46543269G> A null R C 250 250 missense 0.996 probably damaging 0.0 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs770834624 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11p11.2 11 46543268C> T null R H 250 250 missense 0.994 probably damaging 0.02 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs748837618 11p11.2 11 46543265G> C null S C 251 251 missense 0.983 probably damaging 0.26 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,gnomAD rs748837618 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46543265G> A null S F 251 251 missense 0.978 probably damaging 0.13 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs73449929 11p11.2 11 46543262G> A null S F 252 252 2.0E-4 missense 0.878 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs910165754 11p11.2 11 46542980G> T null T N 256 256 missense 0.9 possibly damaging 0.08 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1389326926 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542978C> T null E K 257 257 missense 0.511 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs571458986 11p11.2 11 46542971A> G null F S 259 259 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs571458986 11p11.2 11 46542971A> T null F Y 259 259 missense 0.001 benign 0.85 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs779409186 11p11.2 11 46542966G> C null P A 261 261 missense 0.003 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs757718300 11p11.2 11 46542965G> C null P R 261 261 missense 0.302 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs753885370 11p11.2 11 46542963G> C null P A 262 262 missense 0.111 benign 0.11 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs777885957 11p11.2 11 46542962G> A null P L 262 262 missense 0.003 benign 0.2 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1397656399 11p11.2 11 46542954C> G null A P 265 265 missense 0.605 possibly damaging 0.12 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs144750570 11p11.2 11 46542950G> A null S L 266 266 missense 0.947 probably damaging 0.08 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,TOPMed,gnomAD rs149370911 11p11.2 11 46542945T> C null T A 268 268 missense 0.0 benign 0.76 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs201399145 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542944G> A null T M 268 268 missense 0.437 benign 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs370668853 11p11.2 11 46542941T> G null Q P 269 269 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs370668853 11p11.2 11 46542941T> C null Q R 269 269 missense 0.048 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1246643373 11p11.2 11 46542939G> A null Q * 270 270 stop gained 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1446622444 cosmic curated [Cosmic]: liver cosmic_study:323 11p11.2 11 46542938T> C null Q R 270 270 missense 0.0 benign 0.07 tolerated - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1438268602 11p11.2 11 46542936C> T null D N 271 271 missense 0.12 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1316533919 11p11.2 11 46542931C> G null Q H 272 272 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs965470656 11p11.2 11 46542929C> T null G D 273 273 missense 0.906 possibly damaging 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs768184871 cosmic curated [Cosmic]: skin pubmed:22622578,cosmic_study:388 11p11.2 11 46542927G> A null L F 274 274 missense 0.181 benign 0.18 tolerated - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1224304811 11p11.2 11 46542919G> C null N K 276 276 missense 0.085 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs771657339 11p11.2 11 46542917C> T null R Q 277 277 missense 0.947 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs775111273 11p11.2 11 46542918G> A null R W 277 277 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs779198762 11p11.2 11 46542914G> A null P L 278 278 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs746236968 11p11.2 11 46542915G> A null P S 278 278 missense 0.998 probably damaging 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1450981692 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542903T> C null S G 282 282 missense 0.455 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs749771017 11p11.2 11 46542900T> C null T A 283 283 missense 0.107 benign 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1337021016 11p11.2 11 46542897C> T null V I 284 284 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1236175849 11p11.2 11 46542884G> A null T I 288 288 missense 0.017 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs138732313 11p11.2 11 46542879C> T null G S 290 290 missense 0.023 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1288468799 11p11.2 11 46542875T> C null N S 291 291 missense 0.98 probably damaging 0.28 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC rs150605321 11p11.2 11 46542873T> C null T A 292 292 missense 0.174 benign 0.11 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1470195643 11p11.2 11 46542872G> A null T M 292 292 missense 0.911 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,gnomAD rs377334045 11p11.2 11 46542869A> T null L H 293 293 missense 0.007 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1266795376 11p11.2 11 46542870G> T null L I 293 293 missense 0.399 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,gnomAD rs377334045 11p11.2 11 46542869A> G null L P 293 293 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs761699385 11p11.2 11 46542867G> A null R C 294 294 missense 0.911 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs958703115 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542866C> T null R H 294 294 missense 0.911 probably damaging 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs753813542 11p11.2 11 46542864T> C null N D 295 295 missense 0.116 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs950893823 11p11.2 11 46542863T> G null N T 295 295 missense 0.085 benign 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs763570501 11p11.2 11 46542858T> C null S G 297 297 missense 0.399 benign 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP rs138598480 11p11.2 11 46542854A> G null L P 298 298 missense 0.991 probably damaging 0.08 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs925840392 11p11.2 11 46542852C> A null G C 299 299 missense 0.924 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs925840392 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542852C> G null G R 299 299 missense 0.031 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs767190003 11p11.2 11 46542845G> T null T N 301 301 missense 0.764 possibly damaging 0.13 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs774915255 11p11.2 11 46542846T> G null T P 301 301 missense 0.764 possibly damaging 0.12 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs767190003 11p11.2 11 46542845G> C null T S 301 301 missense 0.255 benign 0.3 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs774737126 11p11.2 11 46542843G> A null R C 302 302 missense 0.915 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1252707450 11p11.2 11 46542842C> T null R H 302 302 missense 0.784 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs749818328 11p11.2 11 46542840G> A null R C 303 303 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs773779272 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542839C> T null R H 303 303 missense 0.989 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1267692419 11p11.2 11 46542836G> C null S C 304 304 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1400829785 11p11.2 11 46542837A> T null S T 304 304 missense 0.943 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1386429264 11p11.2 11 46542833A> G null L S 305 305 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs770129286 11p11.2 11 46542827C> T null G E 307 307 missense 0.876 possibly damaging 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1423851188 11p11.2 11 46542824G> C null P R 308 308 missense 0.232 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs978695790 11p11.2 11 46542818G> T null S Y 310 310 missense 0.568 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1024654148 11p11.2 11 46542811G> C null H Q 312 312 missense 0.003 benign 0.19 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,gnomAD rs748267527 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542810G> A null P S 313 313 missense 0.04 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1447690964 11p11.2 11 46542803C> T null R K 315 315 missense 0.082 benign 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1413855575 11p11.2 11 46542800T> C null Y C 316 316 missense 0.54 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1288173268 11p11.2 11 46542798_46542799insGTCGCCGTATCATTAAAAAA A null Y FF* 316 317 stop gained 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs967739661 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11p11.2 11 46542795G> A null R * 318 318 stop gained 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs755304341 11p11.2 11 46542794C> T null R Q 318 318 missense 0.947 probably damaging 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs778644871 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542765C> G null E Q 328 328 missense 0.282 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs753519749 11p11.2 11 46542756G> C null R G 331 331 missense 0.028 benign 0.08 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs756008473 11p11.2 11 46542755C> G null R P 331 331 missense 0.899 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs756008473 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542755C> T null R Q 331 331 missense 0.836 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs753519749 11p11.2 11 46542756G> A null R W 331 331 missense 0.958 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1300678003 11p11.2 11 46542744T> C null S G 335 335 missense 0.046 benign 0.17 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs752251418 11p11.2 11 46542742A> C null S R 335 335 missense 0.193 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1366185562 11p11.2 11 46542734G> C null S C 338 338 missense 0.442 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs200936140 11p11.2 11 46542732G> A null R C 339 339 missense 0.915 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs759251326 11p11.2 11 46542731C> T null R H 339 339 missense 0.784 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs759251326 11p11.2 11 46542731C> A null R L 339 339 missense 0.553 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1037594442 11p11.2 11 46542729A> G null S P 340 340 missense 0.003 benign 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78629321 11p11.2 11 46542722G> A null A V 342 342 5.99E-4 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1265594696 11p11.2 11 46542712C> T null M I 345 345 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs763376025 11p11.2 11 46542714T> C null M V 345 345 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1197446378 11p11.2 11 46542711G> A null P S 346 346 missense 0.9 possibly damaging 0.15 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373429644 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542707G> A null P L 347 347 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1200724497 11p11.2 11 46542708G> A null P S 347 347 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs748429104 11p11.2 11 46542695C> A null S I 351 351 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs748429104 11p11.2 11 46542695C> T null S N 351 351 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565273742 11p11.2 11 46542693C> A null A S 352 352 missense 0.007 benign 0.45 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139222125 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p11.2 11 46542686G> A null S L 354 354 5.99E-4 missense 0.986 probably damaging 0.0 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139222125 11p11.2 11 46542686G> C null S W 354 354 5.99E-4 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,gnomAD rs574179980 11p11.2 11 46542681T> G null S R 356 356 2.0E-4 missense 0.354 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs201509997 11p11.2 11 46542680C> G null S T 356 356 missense 0.003 benign 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1222411459 11p11.2 11 46542677A> G null L S 357 357 missense 0.848 possibly damaging 0.14 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1345545476 11p11.2 11 46542659T> C null Q R 363 363 missense 0.6 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs865935326 11p11.2 11 46542654C> A null E * 365 365 stop gained 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs865935326 11p11.2 11 46542654C> T null E K 365 365 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1329362186 11p11.2 11 46542648C> G null G R 367 367 missense 0.323 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs888105331 11p11.2 11 46542647C> A null G V 367 367 missense 0.224 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs988642865 11p11.2 11 46542641T> C null Q R 369 369 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs749140064 11p11.2 11 46542629T> A null Y F 373 373 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs777385178 11p11.2 11 46542623G> A null S L 375 375 missense 0.985 probably damaging 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,gnomAD rs371496041 11p11.2 11 46542614T> C null E G 378 378 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs754496852 11p11.2 11 46542605C> G null G A 381 381 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs754496852 11p11.2 11 46542605C> A null G V 381 381 missense 0.24 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200296421 11p11.2 11 46542599G> A null P L 383 383 2.0E-4 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs762461625 11p11.2 11 46542585C> T null A T 388 388 missense 0.005 benign 0.18 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs143509949 11p11.2 11 46542582T> C null T A 389 389 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1302694111 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542581G> A null T I 389 389 missense 0.014 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1221560661 11p11.2 11 46542573C> T null D N 392 392 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1372606823 11p11.2 11 46542572T> A null D V 392 392 missense 0.277 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs762480486 11p11.2 11 46542566C> T null G E 394 394 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1335006068 11p11.2 11 46542560C> G null G A 396 396 missense 0.001 benign 0.28 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs950281248 11p11.2 11 46542558A> G null S P 397 397 missense 0.001 benign 0.25 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565273320 11p11.2 11 46542551T> C null Q R 399 399 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs768845209 11p11.2 11 46542546T> A null N Y 401 401 missense 0.66 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs772363663 11p11.2 11 46542542G> A null S L 402 402 missense 0.035 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1202658007 11p11.2 11 46542540C> T null G S 403 403 missense 0.085 benign 0.19 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs777689689 11p11.2 11 46542531G> A null R C 406 406 missense 0.897 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs769562980 11p11.2 11 46542530C> T null R H 406 406 missense 0.023 benign 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1213083670 11p11.2 11 46542522G> A null L F 409 409 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs925956297 11p11.2 11 46542516A> G null C R 411 411 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs781108348 11p11.2 11 46542504G> A null R C 415 415 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145466300 11p11.2 11 46542503C> T null R H 415 415 0.001198 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1453082920 11p11.2 11 46542495G> C null L V 418 418 missense 0.392 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,gnomAD rs373590747 11p11.2 11 46542490C> G null E D 419 419 missense 0.98 probably damaging 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs888589132 11p11.2 11 46542488T> C null Y C 420 420 missense 0.906 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144724685 11p11.2 11 46542482C> T null R Q 422 422 0.001997 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs758112902 11p11.2 11 46542483G> A null R W 422 422 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1322331436 11p11.2 11 46542480G> A null L F 423 423 missense 0.7 possibly damaging 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1344631569 11p11.2 11 46542467T> A null D V 427 427 missense 0.776 possibly damaging 0.1 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs762286361 11p11.2 11 46542447C> G null A P 434 434 missense 0.0 benign 0.59 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs754189496 11p11.2 11 46542444G> A null P S 435 435 missense 0.0 benign 0.66 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs764730391 11p11.2 11 46542438T> A null T S 437 437 missense 0.04 benign 0.65 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs761039216 11p11.2 11 46542433T> G null Q H 438 438 missense 0.001 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1249722663 11p11.2 11 46542425T> C null Q R 441 441 missense 0.167 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1463388976 11p11.2 11 46542418C> T null M I 443 443 missense 0.01 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs775690762 11p11.2 11 46542417G> A null L F 444 444 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs772038426 11p11.2 11 46542404A> T null I N 448 448 missense 0.241 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs772038426 11p11.2 11 46542404A> G null I T 448 448 missense 0.022 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1414110089 11p11.2 11 46542405T> C null I V 448 448 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1290934122 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542396C> T null E K 451 451 missense 0.275 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs140796587 11p11.2 11 46542390G> C null P A 453 453 missense 0.199 benign 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs140796587 11p11.2 11 46542390G> T null P T 453 453 missense 0.346 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs774449186 11p11.2 11 46542387C> T null G S 454 454 missense 0.906 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs771074894 11p11.2 11 46542384G> C null P A 455 455 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs747964138 11p11.2 11 46542383G> C null P R 455 455 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs771074894 11p11.2 11 46542384G> A null P S 455 455 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1298946677 11p11.2 11 46542378G> A null H Y 457 457 missense 0.359 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs768627603 11p11.2 11 46542371G> T null P H 459 459 missense 0.299 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs768627603 11p11.2 11 46542371G> C null P R 459 459 missense 0.06 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1457144643 11p11.2 11 46542363G> A null H Y 462 462 missense 0.059 benign 0.11 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs779684425 11p11.2 11 46542356C> T null S N 464 464 missense 0.305 benign 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs757836617 11p11.2 11 46542353T> G null E A 465 465 missense 0.359 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1427494485 11p11.2 11 46542347T> G null N T 467 467 missense 0.011 benign 0.19 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs146529357 11p11.2 11 46542341T> A null N I 469 469 missense 0.299 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs146529357 11p11.2 11 46542341T> C null N S 469 469 missense 0.005 benign 0.17 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs146529357 11p11.2 11 46542341T> G null N T 469 469 missense 0.059 benign 0.13 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs944010799 11p11.2 11 46542339G> C null L V 470 470 missense 0.416 benign 0.1 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs144140762 11p11.2 11 46542333G> A null R C 472 472 missense 0.917 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs756709203 11p11.2 11 46542332C> T null R H 472 472 missense 0.029 benign 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs756709203 11p11.2 11 46542332C> A null R L 472 472 missense 0.668 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1489357377 11p11.2 11 46542326T> G null H P 474 474 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1214838212 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542318G> A null R C 477 477 missense 0.707 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,TOPMed,gnomAD rs369659711 11p11.2 11 46542317C> T null R H 477 477 missense 0.006 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1307206683 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 11p11.2 11 46542312G> A null R C 479 479 missense 0.996 probably damaging 0.0 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs768009155 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46542311C> T null R H 479 479 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs774374127 11p11.2 11 46542300T> C null N D 483 483 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs774374127 11p11.2 11 46542300T> A null N Y 483 483 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs892478252 11p11.2 11 46542290G> A null T I 486 486 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs201535679 11p11.2 11 46542281T> C null N S 489 489 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs768334358 11p11.2 11 46542270G> A null R C 493 493 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs768334358 11p11.2 11 46542270G> C null R G 493 493 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs747027675 11p11.2 11 46542269C> T null R H 493 493 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1172344319 11p11.2 11 46542266C> T null W * 494 494 stop gained 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1479182167 11p11.2 11 46542261T> C null R G 496 496 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1467832951 11p11.2 11 46542260C> T null R K 496 496 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs775303283 11p11.2 11 46542254G> A null T I 498 498 missense 0.159 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1354825410 11p11.2 11 46542251G> A null P L 499 499 missense 0.076 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs771979354 11p11.2 11 46542252G> A null P S 499 499 missense 0.003 benign 0.26 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151187650 11p11.2 11 46542245T> C null Y C 501 501 9.98E-4 missense 0.821 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs142357580 11p11.2 11 46542242G> T null S Y 502 502 missense 0.653 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs980638936 11p11.2 11 46542240A> G null S P 503 503 missense 0.003 benign 0.3 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1279143534 11p11.2 11 46542237C> T null G S 504 504 missense 0.001 benign 0.87 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1208213614 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 11p11.2 11 46542234C> T null E K 505 505 missense 0.14 benign 0.04 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs778337364 11p11.2 11 46542228T> C null S G 507 507 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1321516051 11p11.2 11 46542222A> C null S A 509 509 missense 0.003 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1282656548 11p11.2 11 46542210G> C null P A 513 513 missense 0.028 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs913113636 11p11.2 11 46542209G> C null P R 513 513 missense 0.144 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1333396071 11p11.2 11 46542207T> A null S C 514 514 missense 0.398 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs767936094 11p11.2 11 46542203G> A null S F 515 515 missense 0.074 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs756445526 11p11.2 11 46542204A> T null S T 515 515 missense 0.0 benign 0.86 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs767936094 11p11.2 11 46542203G> T null S Y 515 515 missense 0.074 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs755464260 11p11.2 11 46542194C> A null S I 518 518 missense 0.027 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1469090599 11p11.2 11 46542191A> T null V E 519 519 missense 0.009 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1426242560 11p11.2 11 46542182C> T null S N 522 522 missense 0.001 benign 0.35 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1467841006 11p11.2 11 46542181A> T null S R 522 522 missense 0.082 benign 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1467841006 11p11.2 11 46542181A> C null S R 522 522 missense 0.082 benign 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs763230511 11p11.2 11 46542179C> T null G D 523 523 missense 0.202 benign 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs763230511 11p11.2 11 46542179C> A null G V 523 523 missense 0.369 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs765442843 11p11.2 11 46542173T> G null Q P 525 525 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs745907567 11p11.2 11 46542159C> T null E K 530 530 missense 0.288 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs745907567 11p11.2 11 46542159C> G null E Q 530 530 missense 0.656 possibly damaging 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs943973895 11p11.2 11 46542155C> T null R Q 531 531 missense 0.062 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs148732206 11p11.2 11 46542156G> A null R W 531 531 missense 0.653 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs764096778 11p11.2 11 46542148C> G null E D 533 533 missense 0.001 benign 0.14 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs774047489 11p11.2 11 46542147C> A null G C 534 534 missense 0.478 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs770549333 11p11.2 11 46542146C> T null G D 534 534 missense 0.068 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs770549333 11p11.2 11 46542146C> A null G V 534 534 missense 0.144 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs529035577 11p11.2 11 46542140G> A null T M 536 536 3.99E-4 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs748483712 11p11.2 11 46542127G> C null S R 540 540 missense 0.001 benign 0.15 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs781597965 11p11.2 11 46542124C> A null R S 541 541 missense 0.058 benign 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs144286233 11p11.2 11 46542110C> G null S T 546 546 missense 0.001 benign 0.12 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,TOPMed,gnomAD rs563547277 11p11.2 11 46542104G> C null A G 548 548 2.0E-4 missense 0.003 benign 0.17 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,TOPMed,gnomAD rs563547277 11p11.2 11 46542104G> A null A V 548 548 2.0E-4 missense 0.059 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs780167353 11p11.2 11 46542102T> G null S R 549 549 missense 0.159 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1342498443 11p11.2 11 46542100A> T null S R 549 549 missense 0.159 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs758487984 11p11.2 11 46542098G> A null P L 550 550 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs765409442 11p11.2 11 46542091C> G null E D 552 552 missense 0.003 benign 0.23 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1270354472 11p11.2 11 46542080A> T null V E 556 556 missense 0.858 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs752487414 11p11.2 11 46542075C> T null V M 558 558 missense 0.17 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1188448444 11p11.2 11 46542072C> T null A T 559 559 missense 0.168 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1444228966 11p11.2 11 46542067A> T null F L 560 560 missense 0.124 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1259663769 11p11.2 11 46542064G> C null N K 561 561 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1216536369 11p11.2 11 46542063G> A null Q * 562 562 stop gained 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1288746317 11p11.2 11 46542056G> A null T I 564 564 missense 0.018 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs767315638 11p11.2 11 46542053C> T null G D 565 565 missense 0.953 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1394668230 11p11.2 11 46542045C> A null E * 568 568 stop gained 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1284461254 11p11.2 11 46542035T> C null Y C 571 571 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs755884183 11p11.2 11 46542030G> C null Q E 573 573 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs774440639 11p11.2 11 46542029T> G null Q P 573 573 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1317090287 11p11.2 11 46542022G> C null S R 575 575 missense 0.398 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1027139137 11p11.2 11 46542021T> C null R G 576 576 missense 0.255 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs770923048 11p11.2 11 46542020C> A null R I 576 576 missense 0.7 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs762580043 11p11.2 11 46542017G> C null S C 577 577 missense 0.421 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,gnomAD rs372718912 11p11.2 11 46542015C> T null G R 578 578 missense 0.381 benign 0.19 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs752390256 11p11.2 11 46542011G> A null T I 579 579 missense 0.024 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1164054181 11p11.2 11 46542009C> A null V L 580 580 missense 0.304 benign 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs769381027 11p11.2 11 46542003G> T null Q K 582 582 missense 0.173 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1409461428 11p11.2 11 46542002T> C null Q R 582 582 missense 0.224 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs747805376 11p11.2 11 46541991G> C null H D 586 586 missense 0.04 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1438417327 11p11.2 11 46541990T> C null H R 586 586 missense 0.056 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs747805376 11p11.2 11 46541991G> A null H Y 586 586 missense 0.201 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1488645918 11p11.2 11 46541985C> A null D Y 588 588 missense 0.735 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1325023181 11p11.2 11 46541982T> A null M L 589 589 missense 0.001 benign 0.13 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs368621730 11p11.2 11 46541978G> C null P R 590 590 missense 0.17 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs369353560 11p11.2 11 46541976C> G null E Q 591 591 missense 0.062 benign 0.08 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs780544369 11p11.2 11 46541971C> G null E D 592 592 missense 0.007 benign 0.66 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs780544369 11p11.2 11 46541971C> A null E D 592 592 missense 0.007 benign 0.66 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1019799358 11p11.2 11 46541969C> G null S T 593 593 missense 0.24 benign 0.25 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs758863111 11p11.2 11 46541966G> A null S F 594 594 missense 0.471 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565271250 11p11.2 11 46541956A> T null D E 597 597 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565232092 11p11.2 11 46508353T> C null Y C 607 607 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1266582218 11p11.2 11 46508350T> C null Y C 608 608 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1489326861 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46508348C> T null A T 609 609 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs748376043 11p11.2 11 46508334G> C null I M 613 613 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs758225363 11p11.2 11 46508320C> T null R Q 618 618 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1278982486 11p11.2 11 46508321G> A null R W 618 618 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1238177493 11p11.2 11 46508315C> T null D N 620 620 missense 0.864 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1327007871 11p11.2 11 46508312T> C null S G 621 621 missense 0.979 probably damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs750120363 11p11.2 11 46508311C> G null S T 621 621 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs757093273 11p11.2 11 46508306G> A null R C 623 623 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,gnomAD rs753438290 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p11.2 11 46508305C> T null R H 623 623 missense 0.996 probably damaging 0.0 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs760391826 11p11.2 11 46508301C> G null Q H 624 624 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,gnomAD rs763567052 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46508302T> C null Q R 624 624 missense 0.979 probably damaging 0.05 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1400553671 11p11.2 11 46508299C> T null R H 625 625 missense 0.996 probably damaging 0.1 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs775113372 11p11.2 11 46508297A> G null S P 626 626 missense 0.994 probably damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1414689971 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46508294T> C null M V 627 627 missense 0.061 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1377049396 11p11.2 11 46508290C> T null R H 628 628 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1464078164 11p11.2 11 46508291G> T null R S 628 628 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1368543458 11p11.2 11 46508287T> C null Y C 629 629 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs774527865 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46508276G> A null R C 633 633 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1177762699 cosmic curated [Cosmic]: large_intestine, [Cosmic]: pancreas pubmed:22895193,pubmed:23103869,cosmic_study:382,cosmic_study:436,cosmic_study:452 11p11.2 11 46508275C> T null R H 633 633 missense 0.996 probably damaging 0.0 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs774527865 11p11.2 11 46508276G> T null R S 633 633 missense 0.994 probably damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,gnomAD rs539820276 11p11.2 11 46508273G> A null L F 634 634 7.99E-4 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1200661834 11p11.2 11 46508270G> A null R C 635 635 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs368178943 11p11.2 11 46508269C> T null R H 635 635 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs769980147 11p11.2 11 46508263G> A null S F 637 637 missense 0.914 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs748179586 11p11.2 11 46508258A> T null S T 639 639 missense 0.229 benign 0.29 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1446501184 11p11.2 11 46508234C> G null G R 647 647 missense 0.531 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565231766 11p11.2 11 46508233C> A null G V 647 647 missense 0.429 benign 0.16 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1193443529 11p11.2 11 46508230G> A null P L 648 648 missense 0.423 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1373989392 11p11.2 11 46508228A> C null S A 649 649 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1393814772 11p11.2 11 46508224A> G null V A 650 650 missense 0.164 benign 0.25 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1400791645 11p11.2 11 46508218C> G null G A 652 652 missense 0.015 benign 0.08 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs139858656 11p11.2 11 46508213C> T null D N 654 654 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs753774348 11p11.2 11 46508210A> C null L V 655 655 missense 0.028 benign 0.78 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs777325482 11p11.2 11 46508209A> C null L W 655 655 missense 0.958 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565231687 11p11.2 11 46508206T> G null E A 656 656 missense 0.496 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1440055564 11p11.2 11 46508203A> T null F Y 657 657 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1461986983 11p11.2 11 46508192C> G null E Q 661 661 missense 0.584 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1184206396 11p11.2 11 46508191T> A null E V 661 661 missense 0.827 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs768971927 11p11.2 11 46494201G> C null D E 662 662 missense 0.075 benign 0.18 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147544015 11p11.2 11 46494199T> C null N S 663 663 5.99E-4 missense 0.001 benign 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs950812034 11p11.2 11 46494196C> A null G V 664 664 missense 0.078 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1361255763 11p11.2 11 46494191T> C null R G 666 666 missense 0.215 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs368132450 11p11.2 11 46494181T> G null H P 669 669 missense 0.311 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1362361787 11p11.2 11 46494182G> A null H Y 669 669 missense 0.288 benign 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1404516585 11p11.2 11 46494178C> T null R Q 670 670 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,gnomAD rs537702870 11p11.2 11 46494176C> T null A T 671 671 5.99E-4 missense 0.005 benign 0.72 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1230339286 11p11.2 11 46494175G> A null A V 671 671 missense 0.124 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,gnomAD rs143288318 11p11.2 11 46494170G> A null R C 673 673 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs994639663 11p11.2 11 46494166T> C null N S 674 674 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1328406726 11p11.2 11 46494164C> T null A T 675 675 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1421501772 11p11.2 11 46494160C> T null R Q 676 676 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs780533083 11p11.2 11 46494156C> T null M I 677 677 missense 0.922 probably damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1280546957 11p11.2 11 46494149G> A null P S 680 680 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs867597234 11p11.2 11 46494145G> A null S L 681 681 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1017490334 11p11.2 11 46494143G> A null L F 682 682 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1290190529 11p11.2 11 46494137G> A null R C 684 684 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs763412301 11p11.2 11 46494136C> A null R L 684 684 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs765868168 11p11.2 11 46494134A> G null F L 685 685 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs762390386 11p11.2 11 46494131C> T null V I 686 686 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1009253916 11p11.2 11 46494127G> T null P Q 687 687 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1356290318 11p11.2 11 46493706C> T null R H 689 689 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1174596448 11p11.2 11 46493697A> T null L Q 692 692 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1414454992 11p11.2 11 46493680A> T null Y N 698 698 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1159949588 11p11.2 11 46493658C> T null R H 705 705 missense 0.636 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs758077019 11p11.2 11 46493646C> G null G A 709 709 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,TOPMed rs375784286 11p11.2 11 46493610G> C null A G 721 721 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs754166282 11p11.2 11 46443596C> A null A S 723 723 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1227829177 11p11.2 11 46443593C> T null V M 724 724 missense 0.773 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1019887244 11p11.2 11 46443587C> G null G R 726 726 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1019887244 11p11.2 11 46443587C> T null G S 726 726 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1398630964 11p11.2 11 46443574G> C null S C 730 730 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs917536036 11p11.2 11 46443563T> C null S G 734 734 missense 0.762 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs139261712 11p11.2 11 46443557T> C null I V 736 736 missense 0.927 probably damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,TOPMed,gnomAD rs372919095 11p11.2 11 46443551T> C null N D 738 738 missense 0.204 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145534913 cosmic curated [Cosmic]: prostate pubmed:23265383,cosmic_study:450 11p11.2 11 46443550T> C null N S 738 738 2.0E-4 missense 0.827 possibly damaging 0.07 tolerated - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs774567886 11p11.2 11 46443539G> A null R W 742 742 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1405451661 11p11.2 11 46443536G> T null L I 743 743 missense 0.986 probably damaging 0.13 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1014680875 11p11.2 11 46443528C> G null W C 745 745 missense 0.01 benign 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs766519529 11p11.2 11 46443519G> T null F L 748 748 missense 0.969 probably damaging 0.05 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1190864846 11p11.2 11 46443506G> A null L F 753 753 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs761543942 11p11.2 11 46443505A> G null L P 753 753 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs879005983 11p11.2 11 46443502G> A null P L 754 754 missense 0.24 benign 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs952844904 11p11.2 11 46443494T> C null S G 757 757 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377069728 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46435032C> T null V M 761 761 missense 0.07 benign 0.01 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1252413055 11p11.2 11 46435028T> C null N S 762 762 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1216617492 11p11.2 11 46435020C> T null V M 765 765 missense 0.117 benign 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1296722682 11p11.2 11 46435010C> G null C S 768 768 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs775583513 11p11.2 11 46435005T> C null I V 770 770 missense 0.011 benign 0.03 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs772071789 11p11.2 11 46435001T> C null Y C 771 771 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs910923843 11p11.2 11 46434998T> C null N S 772 772 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs759152857 11p11.2 11 46434995T> C null D G 773 773 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1396512046 11p11.2 11 46434986C> T null C Y 776 776 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1299830189 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46434977G> A null S F 779 779 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs748961195 11p11.2 11 46434964C> G null Q H 783 783 missense 0.41 benign 0.03 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1241079198 11p11.2 11 46434965T> C null Q R 783 783 missense 0.013 benign 0.07 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1174079966 11p11.2 11 46434954C> G null A P 787 787 missense 0.827 possibly damaging 0.01 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1474775435 11p11.2 11 46434953G> A null A V 787 787 missense 0.012 benign 0.68 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,gnomAD rs778054395 [NCI-TCGA]: Variant assessed as Somatic; impact. 11p11.2 11 46434946G> C null I M 789 789 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs748393659 11p11.2 11 46434939T> C null S G 792 792 missense 0.969 probably damaging 0.06 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1419913008 11p11.2 11 46434933T> C null R G 794 794 missense 0.282 benign 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1461930281 11p11.2 11 46434930C> A null G C 795 795 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs751686720 11p11.2 11 46434923G> C null P R 797 797 missense 0.901 possibly damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1482583665 11p11.2 11 46434924G> A null P S 797 797 missense 0.495 possibly damaging 0.02 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs780077451 11p11.2 11 46434905G> C null A G 803 803 missense 0.827 possibly damaging 0.11 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs758615335 11p11.2 11 46434899T> A null Y F 805 805 missense 0.98 probably damaging 0.04 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61999319 11p11.2 11 46434894G> C null L V 807 807 0.007588 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs760527350 11p11.2 11 46434890G> A null A V 808 808 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1295556850 11p11.2 11 46434887G> A null P L 809 809 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1051125439 11p11.2 11 46434879G> C null L V 812 812 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1242359243 11p11.2 11 46434868C> G null M I 815 815 missense 0.007 benign 0.04 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs992882280 11p11.2 11 46434869A> C null M R 815 815 missense 0.563 possibly damaging 0.02 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs992882280 11p11.2 11 46434869A> G null M T 815 815 missense 0.152 benign 0.01 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1485167504 11p11.2 11 46434866A> G null L P 816 816 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs765895666 11p11.2 11 46434864A> G null Y H 817 817 missense 0.885 possibly damaging 0.03 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs762310192 11p11.2 11 46434860G> A null T I 818 818 missense 0.961 probably damaging 0.03 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1399962402 11p11.2 11 46433628C> G null G A 822 822 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs552593017 11p11.2 11 46433622T> C null N S 824 824 2.0E-4 missense 0.987 probably damaging 0.06 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs552593017 11p11.2 11 46433622T> G null N T 824 824 2.0E-4 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1044987485 11p11.2 11 46433616A> G null I T 826 826 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs768162115 11p11.2 11 46433617T> C null I V 826 826 missense 0.949 probably damaging 0.14 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs932975059 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46433613G> A null S L 827 827 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1261615768 11p11.2 11 46433610A> G null V A 828 828 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1447900642 11p11.2 11 46433599G> T null P T 832 832 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs762554577 11p11.2 11 46433594C> T null M I 833 833 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143074080 cosmic curated [Cosmic]: lung cosmic_study:583 11p11.2 11 46433596T> C null M V 833 833 2.0E-4 missense 0.915 probably damaging 0.0 deleterious 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1273339958 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46433592C> A null G V 834 834 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1327915131 11p11.2 11 46433579C> A null M I 838 838 missense 0.946 probably damaging 0.02 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs772546229 11p11.2 11 46433581T> C null M V 838 838 missense 0.915 probably damaging 0.06 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs764989472 cosmic curated [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:18772396,pubmed:24140581,cosmic_study:376,cosmic_study:548 11p11.2 11 46433563G> A null R * 844 844 missense 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1394025581 11p11.2 11 46433539T> C null T A 852 852 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs777047702 11p11.2 11 46433529A> G null M T 855 855 missense 0.946 probably damaging 0.04 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs761423550 11p11.2 11 46433530T> C null M V 855 855 missense 0.915 probably damaging 0.09 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs866431705 11p11.2 11 46433527C> A null V L 856 856 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565153430 11p11.2 11 46433524C> A null A S 857 857 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1167936671 11p11.2 11 46433518C> T null V I 859 859 missense 0.987 probably damaging 0.11 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs772421911 11p11.2 11 46433497G> A null H Y 866 866 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1197190864 11p11.2 11 46433491C> T null G R 868 868 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs745984552 11p11.2 11 46433479T> G null M L 872 872 missense 0.022 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs759933770 11p11.2 11 46418052T> C null R G 874 874 missense 0.496 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs867467290 11p11.2 11 46418043T> C null N D 877 877 missense 0.991 probably damaging 0.15 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs774543774 11p11.2 11 46418042T> C null N S 877 877 missense 0.987 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,TOPMed,gnomAD rs370651158 11p11.2 11 46418040C> T null V I 878 878 missense 0.987 probably damaging 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs145582910 11p11.2 11 46418036A> G null L P 879 879 missense 0.914 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs551307770 11p11.2 11 46418037G> C null L V 879 879 2.0E-4 missense 0.017 benign 0.71 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs140375378 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 11p11.2 11 46418030G> A null P L 881 881 missense 0.999 probably damaging 0.01 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs770091202 11p11.2 11 46418027A> G null M T 882 882 missense 0.946 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1175906654 11p11.2 11 46418024G> A null P L 883 883 missense 0.523 possibly damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs984902035 11p11.2 11 46418025G> A null P S 883 883 missense 0.337 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs746869795 11p11.2 11 46418021G> A null A V 884 884 missense 0.675 possibly damaging 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1470852340 11p11.2 11 46418017G> T null D E 885 885 missense 0.99 probably damaging 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1177328415 11p11.2 11 46418019C> T null D N 885 885 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs758428222 11p11.2 11 46418016G> C null Q E 886 886 missense 0.968 probably damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1485950648 11p11.2 11 46418012C> T null R Q 887 887 missense 0.99 probably damaging 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs750314722 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46418013G> A null R W 887 887 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs756766440 11p11.2 11 46418004C> A null V F 890 890 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1315401786 11p11.2 11 46418000C> T null S N 891 891 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1315401786 11p11.2 11 46418000C> G null S T 891 891 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs753307934 11p11.2 11 46417993G> T null N K 893 893 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs763760751 11p11.2 11 46417986G> A null R C 896 896 missense 0.997 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs760302067 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46417985C> T null R H 896 896 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs753150003 11p11.2 11 46417968C> G null G R 902 902 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs767773744 11p11.2 11 46417961C> G null G A 904 904 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,gnomAD rs528078297 11p11.2 11 46417943T> A null N I 910 910 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1344264569 11p11.2 11 46417940T> C null K R 911 911 missense 0.275 benign 0.1 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1344264569 11p11.2 11 46417940T> G null K T 911 911 missense 0.957 probably damaging 0.07 tolerated 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,TOPMed,gnomAD rs376271468 11p11.2 11 46417919C> T null R Q 918 918 missense 0.99 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1262410243 11p11.2 11 46417916G> T null P Q 919 919 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs761894991 11p11.2 11 46410360T> C null N S 923 923 missense 0.969 probably damaging 0.1 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs776724460 11p11.2 11 46410357G> C null S C 924 924 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs745673960 11p11.2 11 46410354C> G null G A 925 925 missense 0.994 probably damaging 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs745673960 11p11.2 11 46410354C> T null G D 925 925 missense 0.998 probably damaging 0.88 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1275604759 11p11.2 11 46410355C> T null G S 925 925 missense 0.996 probably damaging 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs745673960 11p11.2 11 46410354C> A null G V 925 925 missense 0.998 probably damaging 0.13 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1307421514 11p11.2 11 46410349C> G null E Q 927 927 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs774112609 11p11.2 11 46410342T> C null Y C 929 929 missense 0.639 possibly damaging 0.16 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1368360565 11p11.2 11 46410332C> G null Q H 932 932 missense 0.387 benign 0.16 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1429119847 11p11.2 11 46410326G> C null N K 934 934 missense 0.041 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1324530297 11p11.2 11 46410328T> A null N Y 934 934 missense 0.244 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1324754211 11p11.2 11 46410325C> T null E K 935 935 missense 0.288 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs950287353 11p11.2 11 46410322T> C null T A 936 936 missense 0.059 benign 0.18 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1319162148 11p11.2 11 46410318A> G null V A 937 937 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs777325811 11p11.2 11 46410312G> A null T I 939 939 missense 0.648 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs747650808 11p11.2 11 46410310C> T null V I 940 940 missense 0.107 benign 0.18 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1049493515 11p11.2 11 46410298T> C null S G 944 944 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs780727462 11p11.2 11 46410297C> G null S T 944 944 missense 0.007 benign 0.34 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1393537433 11p11.2 11 46410291C> T null S N 946 946 missense 0.003 benign 0.24 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs900564623 11p11.2 11 46410289T> C null S G 947 947 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,gnomAD rs149732166 11p11.2 11 46410286C> G null E Q 948 948 missense 0.307 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs746864991 11p11.2 11 46410282C> T null R Q 949 949 missense 0.226 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs752010183 11p11.2 11 46410283G> A null R W 949 949 missense 0.859 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1252353663 11p11.2 11 46410280G> A null P S 950 950 missense 0.088 benign 0.11 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142506605 11p11.2 11 46408704G> A null T I 952 952 3.99E-4 missense 0.225 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,TOPMed,gnomAD rs532892264 11p11.2 11 46408701C> A null S I 953 953 2.0E-4 missense 0.9 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,TOPMed,gnomAD rs532892264 cosmic curated [Cosmic]: lung pubmed:22941188,pubmed:22941189,cosmic_study:423,cosmic_study:424 11p11.2 11 46408701C> T null S N 953 953 2.0E-4 missense 0.019 benign 0.39 tolerated - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs749028985 11p11.2 11 46408688C> G null W C 957 957 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1349667628 11p11.2 11 46408690A> G null W R 957 957 missense 0.989 probably damaging 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs773160077 11p11.2 11 46408683G> A null T I 959 959 missense 0.058 benign 0.05 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1261586910 11p11.2 11 46408684T> A null T S 959 959 missense 0.005 benign 0.58 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs931393005 11p11.2 11 46408679G> C null D E 960 960 missense 0.986 probably damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs769719007 11p11.2 11 46408675C> G null D H 962 962 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs747657992 11p11.2 11 46408669C> G null G R 964 964 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs747657992 11p11.2 11 46408669C> T null G R 964 964 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1162310228 11p11.2 11 46408661C> A null M I 966 966 missense 0.011 benign 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1412921665 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46408656G> A null A V 968 968 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1313310627 11p11.2 11 46408653A> T null I N 969 969 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1313310627 11p11.2 11 46408653A> G null I T 969 969 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1386855711 11p11.2 11 46408642G> A null P S 973 973 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs768258869 11p11.2 11 46408638C> T null R Q 974 974 missense 0.015 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs968764162 11p11.2 11 46408633G> A null P S 976 976 missense 0.592 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs746646452 11p11.2 11 46408630C> T null A T 977 977 missense 0.0 benign 0.7 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1361933091 11p11.2 11 46408627T> G null T P 978 978 missense 0.007 benign 0.51 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed rs771966929 11p11.2 11 46408617G> A null T I 981 981 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs779311819 11p11.2 11 46408610C> G null Q H 983 983 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1189127072 11p11.2 11 46408605G> A null T I 985 985 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs757761674 11p11.2 11 46408594C> T null A T 989 989 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1262045916 11p11.2 11 46408580C> A null Q H 993 993 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs769715526 11p11.2 11 46408560T> G null E A 1000 1000 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs773034716 11p11.2 11 46408548G> A null P L 1004 1004 missense 0.036 benign 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs760701585 11p11.2 11 46408537T> C null T A 1008 1008 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs991951310 11p11.2 11 46408536G> A null T I 1008 1008 missense 0.009 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs72910100 11p11.2 11 46408531C> G null A P 1010 1010 0.007188 missense 0.001 benign 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs72910100 11p11.2 11 46408531C> A null A S 1010 1010 0.007188 missense 0.001 benign 0.88 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs72910100 11p11.2 11 46408531C> T null A T 1010 1010 0.007188 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs746285075 11p11.2 11 46408530G> A null A V 1010 1010 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1192917014 11p11.2 11 46408524C> T null G D 1012 1012 missense 0.876 possibly damaging 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1371763262 11p11.2 11 46408525C> T null G S 1012 1012 missense 0.201 benign 0.21 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,gnomAD rs559652881 11p11.2 11 46408521G> T null P H 1013 1013 2.0E-4 missense 0.303 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,gnomAD rs559652881 11p11.2 11 46408521G> A null P L 1013 1013 2.0E-4 missense 0.022 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1264018612 11p11.2 11 46408522G> A null P S 1013 1013 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145428746 11p11.2 11 46397943C> T null G D 1016 1016 2.0E-4 missense 0.484 possibly damaging 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145428746 11p11.2 11 46397943C> A null G V 1016 1016 2.0E-4 missense 0.327 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1304310087 11p11.2 11 46397938C> A null G C 1018 1018 missense 0.742 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs755262492 11p11.2 11 46397937C> T null G D 1018 1018 missense 0.244 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1304310087 11p11.2 11 46397938C> G null G R 1018 1018 missense 0.531 possibly damaging 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs755262492 11p11.2 11 46397937C> A null G V 1018 1018 missense 0.429 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1273528560 11p11.2 11 46397934G> A null S L 1019 1019 missense 0.006 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1461737463 11p11.2 11 46397931T> C null E G 1020 1020 missense 0.991 probably damaging 0.05 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs751812076 11p11.2 11 46397929A> T null Y N 1021 1021 missense 0.014 benign 0.08 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1172155334 11p11.2 11 46397920T> A null S C 1024 1024 missense 0.443 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1395284568 11p11.2 11 46397910T> A null D V 1027 1027 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565113536 11p11.2 11 46397908C> T null A T 1028 1028 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs139896964 11p11.2 11 46397907G> A null A V 1028 1028 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1232243338 11p11.2 11 46397900G> C null S R 1030 1030 missense 0.206 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1182371310 11p11.2 11 46397890T> C null R G 1034 1034 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs368208385 11p11.2 11 46397880G> A null A V 1037 1037 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs975568389 11p11.2 11 46397876C> G null E D 1038 1038 missense 0.028 benign 0.05 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs147448508 11p11.2 11 46397874C> T null G D 1039 1039 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs868081487 11p11.2 11 46397871C> T null G D 1040 1040 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1388623651 11p11.2 11 46397872C> T null G S 1040 1040 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1431870372 11p11.2 11 46397868A> G null M T 1041 1041 missense 0.922 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,TOPMed,gnomAD rs148784670 11p11.2 11 46397860C> T null V M 1044 1044 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs770437654 11p11.2 11 46397851G> A null R W 1047 1047 missense 0.59 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1369068781 11p11.2 11 46397829G> A null A V 1054 1054 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1386900734 11p11.2 11 46397823A> G null M T 1056 1056 missense 0.922 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1375715315 11p11.2 11 46397820C> T null G D 1057 1057 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs750734087 11p11.2 11 46397821C> T null G S 1057 1057 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs770347233 11p11.2 11 46397818C> T null G S 1058 1058 missense 0.999 probably damaging 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1473555913 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46397812C> T null G S 1060 1060 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs755064472 11p11.2 11 46397809T> C null N D 1061 1061 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs747012025 11p11.2 11 46397808T> C null N S 1061 1061 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs375792318 11p11.2 11 46397806T> C null N D 1062 1062 missense 0.046 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1238281494 11p11.2 11 46397805T> C null N S 1062 1062 missense 0.001 benign 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs763966082 11p11.2 11 46397800T> C null I V 1064 1064 missense 0.033 benign 0.12 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1452451346 11p11.2 11 46397797C> T null V I 1065 1065 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC rs752683177 11p11.2 11 46397790T> C null H R 1067 1067 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1451510729 11p11.2 11 46397787C> T null R H 1068 1068 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,gnomAD rs201354368 11p11.2 11 46397779G> A null R C 1071 1071 2.0E-4 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1380279198 11p11.2 11 46397776T> C null S G 1072 1072 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,gnomAD rs367760647 11p11.2 11 46397773A> C null S A 1073 1073 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA rs762502501 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11p11.2 11 46397766G> A null T M 1075 1075 missense 0.997 probably damaging 0.0 deleterious - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,TOPMed,gnomAD rs374387714 11p11.2 11 46397755G> C null P A 1079 1079 missense 0.0 benign 0.36 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1271864332 11p11.2 11 46397751C> T null G D 1080 1080 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1167506014 11p11.2 11 46397752C> G null G R 1080 1080 missense 0.031 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs770151053 11p11.2 11 46397749C> A null A S 1081 1081 missense 0.075 benign 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs866037672 [NCI-TCGA]: Variant assessed as Somatic; impact. 11p11.2 11 46397748G> A null A V 1081 1081 missense 0.109 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs144388436 11p11.2 11 46397746C> T null A T 1082 1082 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs769004853 11p11.2 11 46397742T> A null H L 1083 1083 missense 0.006 benign 0.13 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs769004853 11p11.2 11 46397742T> C null H R 1083 1083 missense 0.0 benign 0.65 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1415779073 11p11.2 11 46397740T> A null T S 1084 1084 missense 0.0 benign 0.82 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1184524043 11p11.2 11 46397737A> G null S P 1085 1085 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1297931853 11p11.2 11 46397733G> A null S L 1086 1086 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1209472847 11p11.2 11 46397730G> A null P L 1087 1087 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1226463571 11p11.2 11 46397731G> A null P S 1087 1087 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1271845591 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11p11.2 11 46397727T> C null Q R 1088 1088 missense 0.0 benign 0.28 tolerated - low confidence 1 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1233279062 11p11.2 11 46397725G> A null P S 1089 1089 missense 0.127 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1315322244 11p11.2 11 46397718G> A null T I 1091 1091 missense 0.109 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1322848019 11p11.2 11 46397719T> G null T P 1091 1091 missense 0.191 benign 0.17 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs149624973 11p11.2 11 46397712C> A null R L 1093 1093 missense 0.072 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149624973 [NCI-TCGA]: Variant assessed as Somatic; impact. 11p11.2 11 46397712C> T null R Q 1093 1093 missense 0.003 benign 0.64 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs200841087 11p11.2 11 46397713G> A null R W 1093 1093 missense 0.555 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs370167428 11p11.2 11 46397709C> T null G E 1094 1094 missense 0.001 benign 0.62 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1297787067 11p11.2 11 46397710C> T null G R 1094 1094 missense 0.075 benign 0.38 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,gnomAD rs554226184 11p11.2 11 46397697T> C null E G 1098 1098 5.99E-4 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs781305322 11p11.2 11 46397695C> A null A S 1099 1099 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs375911943 11p11.2 11 46397691C> T null G E 1100 1100 0.002995 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs377430582 11p11.2 11 46397692C> T null G R 1100 1100 missense 0.054 benign 0.26 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1414993109 11p11.2 11 46397683C> A null A S 1103 1103 missense 0.0 benign 0.77 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1023861260 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11p11.2 11 46397677G> A null R * 1105 1105 stop gained 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1023861260 11p11.2 11 46397677G> C null R G 1105 1105 missense 0.187 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs117438791 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46397676C> T null R Q 1105 1105 2.0E-4 missense 0.127 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs764821864 11p11.2 11 46397673C> T null G D 1106 1106 missense 0.012 benign 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1320806295 11p11.2 11 46397667C> A null S I 1108 1108 missense 0.55 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1458412938 11p11.2 11 46397668T> G null S R 1108 1108 missense 0.282 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,TOPMed,gnomAD rs142425575 11p11.2 11 46397662G> C null R G 1110 1110 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs762197243 11p11.2 11 46397661C> T null R Q 1110 1110 missense 0.947 probably damaging 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,TOPMed,gnomAD rs142425575 11p11.2 11 46397662G> A null R W 1110 1110 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs769253896 11p11.2 11 46397656C> A null A S 1112 1112 missense 0.005 benign 0.2 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs761071769 11p11.2 11 46397642C> A null Q H 1116 1116 missense 0.371 benign 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1275778909 11p11.2 11 46397641G> A null P S 1117 1117 missense 0.04 benign 0.17 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1230247251 11p11.2 11 46397638C> G null G R 1118 1118 missense 0.102 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs775703311 11p11.2 11 46397631G> A null P L 1120 1120 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1397458714 11p11.2 11 46397632G> T null P T 1120 1120 missense 0.015 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1386793453 11p11.2 11 46397625C> T null R Q 1122 1122 missense 0.001 benign 0.55 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs772046544 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 46397626G> A null R W 1122 1122 missense 0.556 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1369675167 11p11.2 11 46397622T> C null E G 1123 1123 missense 0.059 benign 0.27 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1296310505 11p11.2 11 46397620G> A null P S 1124 1124 missense 0.086 benign 0.74 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs745882997 11p11.2 11 46397616G> A null T I 1125 1125 missense 0.01 benign 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs779296190 11p11.2 11 46397610G> C null P R 1127 1127 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs200914758 11p11.2 11 46397607G> A null T I 1128 1128 2.0E-4 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1270110447 11p11.2 11 46397601G> A null P L 1130 1130 missense 0.023 benign 0.09 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs751458401 11p11.2 11 46397602G> A null P S 1130 1130 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs751458401 11p11.2 11 46397602G> T null P T 1130 1130 missense 0.015 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1379469341 11p11.2 11 46397598G> A null S F 1131 1131 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs749895755 11p11.2 11 46397596A> C null S A 1132 1132 missense 0.125 benign 0.45 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1480587840 11p11.2 11 46397595G> A null S F 1132 1132 missense 0.775 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1207713428 11p11.2 11 46397592G> T null S Y 1133 1133 missense 0.731 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1440849027 11p11.2 11 46397590G> A null P S 1134 1134 missense 0.005 benign 0.14 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1279113688 11p11.2 11 46397580A> G null I T 1137 1137 missense 0.0 benign 0.48 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs866207238 11p11.2 11 46397577G> A null P L 1138 1138 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1313383554 11p11.2 11 46397574A> G null V A 1139 1139 missense 0.003 benign 0.57 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs921662645 11p11.2 11 46397575C> A null V F 1139 1139 missense 0.009 benign 0.27 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1158584653 11p11.2 11 46397571G> A null S F 1140 1140 missense 0.24 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs754709228 11p11.2 11 46397572A> G null S P 1140 1140 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs964199125 11p11.2 11 46397560C> T null A T 1144 1144 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs764361329 11p11.2 11 46397547G> T null T N 1148 1148 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed,gnomAD rs1466730853 11p11.2 11 46397536C> T null E K 1152 1152 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs759715949 11p11.2 11 46397530T> C null T A 1154 1154 missense 0.014 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 Ensembl rs1565112037 11p11.2 11 46397529G> T null T N 1154 1154 missense 0.056 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs749521467 11p11.2 11 46397526T> C null N S 1155 1155 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs200904856 11p11.2 11 46397520T> C null N S 1157 1157 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs151233267 11p11.2 11 46397514A> C null L R 1159 1159 missense 0.61 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs758301631 11p11.2 11 46397508T> C null D G 1161 1161 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 TOPMed rs1279664656 11p11.2 11 46397509C> A null D Y 1161 1161 missense 0.325 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs751141290 11p11.2 11 46397502C> T null G D 1163 1163 missense 0.023 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1258477127 11p11.2 11 46397503C> T null G S 1163 1163 missense 0.0 benign 0.14 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs751141290 11p11.2 11 46397502C> A null G V 1163 1163 missense 0.047 benign 0.04 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs149093532 11p11.2 11 46397492C> A null R S 1166 1166 0.004593 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs143178975 11p11.2 11 46397493C> G null R T 1166 1166 missense 0.01 benign 0.24 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1354642426 11p11.2 11 46397490C> T null G E 1167 1167 missense 0.046 benign 0.07 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs753435982 11p11.2 11 46397491C> T null G R 1167 1167 missense 0.137 benign 0.05 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ESP,ExAC,TOPMed,gnomAD rs370073097 11p11.2 11 46397486G> T null D E 1168 1168 missense 0.0 benign 0.75 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs763741733 11p11.2 11 46397488C> T null D N 1168 1168 missense 0.015 benign 1.0 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs763741733 11p11.2 11 46397488C> A null D Y 1168 1168 missense 0.24 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs760110980 11p11.2 11 46397484G> C null A G 1169 1169 missense 0.015 benign 0.62 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs767946157 11p11.2 11 46397485C> T null A T 1169 1169 missense 0.0 benign 0.32 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs774644644 11p11.2 11 46397482C> T null A T 1170 1170 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs766574123 11p11.2 11 46397478C> A null G V 1171 1171 missense 0.023 benign 0.05 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC rs763072636 11p11.2 11 46397475G> A null P L 1172 1172 missense 0.04 benign 0.01 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs773330938 11p11.2 11 46397473T> C null R G 1173 1173 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1368323048 11p11.2 11 46397470C> G null G R 1174 1174 missense 0.007 benign 0.13 tolerated - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 gnomAD rs1188643689 11p11.2 11 46397467C> A null E * 1175 1175 stop gained 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs772054193 11p11.2 11 46397460C> G null R P 1177 1177 missense 0.736 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,TOPMed,gnomAD rs772054193 11p11.2 11 46397460C> T null R Q 1177 1177 missense 0.41 benign 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs532283905 11p11.2 11 46397461G> A null R W 1177 1177 2.0E-4 missense 0.687 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T1 AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 ExAC,gnomAD rs745800164 11p11.2 11 46397455T> C null R G 1179 1179 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ExAC,gnomAD rs782126106 8q24.3 8 144355601C> T null R Q 4 4 missense 0.864 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs538346478 8q24.3 8 144355602G> A null R W 4 4 9.98E-4 missense 0.034 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1210423058 8q24.3 8 144355599C> T null A T 5 5 missense 0.087 benign 0.27 tolerated - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs781970557 8q24.3 8 144355598G> A null A V 5 5 missense 0.003 benign 0.26 tolerated - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) TOPMed rs1192921678 8q24.3 8 144355594G> C null Y * 6 6 stop gained 0 A0A075B6T3 null Uncharacterized protein (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs140699050 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144355595T> C null Y C 6 6 2.0E-4 missense 0.967 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140699050 8q24.3 8 144355595T> A null Y F 6 6 2.0E-4 missense 0.073 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs150488922 8q24.3 8 144355596A> G null Y H 6 6 missense 0.956 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140699050 8q24.3 8 144355595T> G null Y S 6 6 2.0E-4 missense 0.956 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs145097703 8q24.3 8 144355592C> T null R Q 7 7 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138981805 8q24.3 8 144355593G> A null R W 7 7 2.0E-4 missense 0.019 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1372058317 8q24.3 8 144355586A> G null L P 9 9 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ExAC,gnomAD rs782217946 8q24.3 8 144355584C> G null E Q 10 10 missense 0.294 benign 0.17 tolerated - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1409993646 8q24.3 8 144355583T> A null E V 10 10 missense 0.494 possibly damaging 0.06 tolerated - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ExAC,gnomAD rs561259699 8q24.3 8 144355580T> C null E G 11 11 missense 0.23 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs782605034 8q24.3 8 144355581C> T null E K 11 11 missense 0.297 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs141323222 8q24.3 8 144355577A> T null V D 12 12 missense 0.466 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs141323222 8q24.3 8 144355577A> C null V G 12 12 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs782812176 8q24.3 8 144355571C> T null W * 14 14 stop gained 0 A0A075B6T3 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs782812176 8q24.3 8 144355571C> G null W S 14 14 missense 0.401 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs782537061 8q24.3 8 144355568C> T null C Y 15 15 missense 0.952 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) gnomAD rs1554852509 8q24.3 8 144355554G> A null L F 20 20 missense 0.202 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ExAC,gnomAD rs782746141 8q24.3 8 144355551T> A null T S 21 21 missense 0.173 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) gnomAD rs1554852504 8q24.3 8 144355544G> C null P R 23 23 missense 0.025 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373278742 8q24.3 8 144355541G> T null S * 24 24 5.99E-4 stop gained 0 A0A075B6T3 null Uncharacterized protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373278742 8q24.3 8 144355541G> A null S L 24 24 5.99E-4 missense 0.001 benign 0.87 tolerated - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1344606964 8q24.3 8 144355538G> C null P R 25 25 missense 0.112 benign 0.0 deleterious - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs782255518 8q24.3 8 144355535C> T null S N 26 26 missense 0.001 benign 0.98 tolerated - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs146434678 8q24.3 8 144355534G> C null S R 26 26 2.0E-4 missense 0.06 benign 0.19 tolerated - low confidence 0 A0A075B6T3 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs782255518 8q24.3 8 144355535C> G null S T 26 26 missense 0.04 benign 0.38 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1228326762 11p11.2 11 47578070G> A null A V 2 2 missense 0.0 benign 0.32 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs753291271 11p11.2 11 47578067A> C null V G 3 3 missense 0.005 benign 0.57 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1380903308 11p11.2 11 47578068C> T null V M 3 3 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs185955097 11p11.2 11 47578065T> C null N D 4 4 missense 0.0 benign 0.83 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs185955097 11p11.2 11 47578065T> G null N H 4 4 missense 0.102 benign 0.21 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1267849833 11p11.2 11 47578061G> A null S F 5 5 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1327551078 11p11.2 11 47578047T> C null R G 10 10 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368090346 11p11.2 11 47578042C> T null W * 11 11 0.003994 missense 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368090346 11p11.2 11 47578042C> A null W C 11 11 0.003994 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1256848243 11p11.2 11 47578033A> T null F L 14 14 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs774601806 11p11.2 11 47578016C> G null R T 20 20 missense 0.108 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs766639490 11p11.2 11 47578014C> G null E Q 21 21 missense 0.264 benign 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs768562917 11p11.2 11 47578007A> G null L S 23 23 missense 0.003 benign 0.7 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs746889316 11p11.2 11 47578005C> G null A P 24 24 missense 0.003 benign 0.19 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs746889316 11p11.2 11 47578005C> T null A T 24 24 missense 0.003 benign 0.1 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs772029487 11p11.2 11 47578001C> T null S N 25 25 missense 0.0 benign 0.17 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs772029487 11p11.2 11 47578001C> G null S T 25 25 missense 0.0 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1472838239 11p11.2 11 47577996C> G null E Q 27 27 missense 0.743 possibly damaging 0.05 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes rs201944140 11p11.2 11 47577992G> A null S L 28 28 2.0E-4 missense 0.543 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs899403138 11p11.2 11 47577989G> A null P L 29 29 missense 0.005 benign 0.07 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs1421219213 11p11.2 11 47577987C> T null E K 30 30 missense 0.03 benign 0.43 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs756893187 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 11p11.2 11 47577982C> A null E D 31 31 missense 0.011 benign 0.19 tolerated 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1434739830 11p11.2 11 47577984C> T null E K 31 31 missense 0.272 benign 0.04 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs749038795 11p11.2 11 47577978C> G null G R 33 33 missense 0.847 possibly damaging 0.09 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1176296527 11p11.2 11 47577968A> G null M T 36 36 missense 0.0 benign 0.22 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs777973790 11p11.2 11 47577969T> C null M V 36 36 missense 0.0 benign 0.5 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes rs201260729 11p11.2 11 47577966C> T null D N 37 37 2.0E-4 missense 0.062 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1322954784 11p11.2 11 47577953A> G null F S 41 41 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs1565937651 11p11.2 11 47577950A> T null V E 42 42 missense 0.586 possibly damaging 0.13 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs756555249 11p11.2 11 47577948T> A null N Y 43 43 missense 0.272 benign 0.04 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs578043743 11p11.2 11 47577936T> C null K E 47 47 missense 0.131 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs753022783 11p11.2 11 47577935T> C null K R 47 47 missense 0.239 benign 0.74 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372890651 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 47577930G> A null R W 49 49 missense 0.888 possibly damaging 0.04 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1389952560 11p11.2 11 47577920G> C null S * 52 52 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1294000888 11p11.2 11 47577917C> A null G V 53 53 missense 0.038 benign 0.3 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed rs751630870 11p11.2 11 47577915G> A null R C 54 54 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs866688838 11p11.2 11 47577914C> T null R H 54 54 missense 0.983 probably damaging 0.03 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed rs751630870 11p11.2 11 47577915G> T null R S 54 54 missense 0.935 probably damaging 0.56 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs763081469 11p11.2 11 47577906G> A null Q * 57 57 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs763081469 cosmic curated [Cosmic]: pancreas cosmic_study:328 11p11.2 11 47577906G> C null Q E 57 57 missense 0.138 benign 0.71 tolerated 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs765401733 11p11.2 11 47577903C> T null G S 58 58 missense 0.121 benign 0.81 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs760478581 11p11.2 11 47577890A> G null L P 62 62 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs775153545 11p11.2 11 47577888A> G null C R 63 63 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs771939833 11p11.2 11 47577879C> T null E K 66 66 missense 0.096 benign 0.54 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1261032411 11p11.2 11 47577873G> A null L F 68 68 missense 0.782 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs759531323 11p11.2 11 47577869A> G null F S 69 69 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1208283820 11p11.2 11 47577866G> C null A G 70 70 missense 0.946 probably damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,gnomAD rs142003677 11p11.2 11 47577857G> A null T I 73 73 missense 0.02 benign 0.98 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs201283706 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p11.2 11 47577851G> A null S L 75 75 missense 0.001 benign 0.16 tolerated 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1221494680 11p11.2 11 47577844T> A null E D 77 77 missense 0.018 benign 0.27 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs368260283 11p11.2 11 47577840G> C null R G 79 79 missense 0.109 benign 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs748476406 11p11.2 11 47577839C> A null R L 79 79 missense 0.029 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs748476406 11p11.2 11 47577839C> G null R P 79 79 missense 0.265 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs748476406 11p11.2 11 47577839C> T null R Q 79 79 missense 0.028 benign 0.16 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs368260283 11p11.2 11 47577840G> A null R W 79 79 missense 0.812 possibly damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1388504863 11p11.2 11 47577837C> T null E K 80 80 missense 0.019 benign 0.04 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC rs781697777 11p11.2 11 47577824T> C null H R 84 84 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs752176427 cosmic curated [Cosmic]: pancreas pubmed:24293293,cosmic_study:529 11p11.2 11 47577821C> T null R Q 85 85 missense 0.997 probably damaging 0.0 deleterious 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs755526558 11p11.2 11 47577822G> A null R W 85 85 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1478886748 11p11.2 11 47577818A> C null L R 86 86 missense 0.834 possibly damaging 0.05 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed rs377156678 11p11.2 11 47577815A> G null V A 87 87 missense 0.508 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed rs377156678 11p11.2 11 47577815A> C null V G 87 87 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs112797348 11p11.2 11 47577812A> G null L P 88 88 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs759441446 11p11.2 11 47577797C> G null C S 93 93 missense 0.006 benign 0.86 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201795704 [NCI-TCGA]: Variant assessed as Somatic; impact. 11p11.2 11 47577794A> C null F C 94 94 3.99E-4 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1177495728 11p11.2 11 47577789G> A null R * 96 96 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs138203231 cosmic curated [Cosmic]: NS pubmed:22722201,cosmic_study:385 11p11.2 11 47577788C> T null R Q 96 96 missense 0.755 possibly damaging 0.0 deleterious 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC rs772597481 11p11.2 11 47577783T> A null M L 98 98 missense 0.044 benign 0.04 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1307952547 11p11.2 11 47577782A> G null M T 98 98 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC rs772597481 11p11.2 11 47577783T> C null M V 98 98 missense 0.61 possibly damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1343838563 11p11.2 11 47577773G> C null S C 101 101 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs781685670 11p11.2 11 47577769G> T null N K 102 102 missense 0.025 benign 0.07 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75352463 11p11.2 11 47577770T> C null N S 102 102 0.005192 missense 0.341 benign 0.11 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1367383233 11p11.2 11 47577763C> A null K N 104 104 missense 0.549 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1217640786 11p11.2 11 47577762C> T null E K 105 105 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1446166617 11p11.2 11 47577755T> C null H R 107 107 missense 0.003 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs371860105 11p11.2 11 47577751G> T null N K 108 108 missense 0.017 benign 0.07 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs780667586 11p11.2 11 47577752T> C null N S 108 108 missense 0.138 benign 0.05 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs750461330 11p11.2 11 47577750G> A null R W 109 109 missense 0.828 possibly damaging 0.03 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs778920724 11p11.2 11 47577747C> G null V L 110 110 missense 0.06 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs778920724 11p11.2 11 47577747C> T null V M 110 110 missense 0.525 possibly damaging 0.03 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1173545188 11p11.2 11 47577743A> G null I T 111 111 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1467860733 11p11.2 11 47577737A> T null L Q 113 113 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs757499382 11p11.2 11 47577729C> T null V I 116 116 missense 0.045 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs754102309 11p11.2 11 47577723C> A null E * 118 118 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs754102309 11p11.2 11 47577723C> T null E K 118 118 missense 0.102 benign 0.14 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs767281805 11p11.2 11 47577708G> A null L F 123 123 missense 0.16 benign 0.21 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1184772110 11p11.2 11 47577704A> T null L Q 124 124 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs754723894 11p11.2 11 47577698T> C null D G 126 126 missense 0.067 benign 0.15 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs766269130 11p11.2 11 47577686T> A null H L 130 130 missense 0.098 benign 0.68 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1406417172 11p11.2 11 47577681T> G null T P 132 132 missense 0.782 possibly damaging 0.1 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs764718778 11p11.2 11 47577680G> C null T S 132 132 missense 0.059 benign 0.13 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1240845778 11p11.2 11 47577678C> T null V M 133 133 missense 0.894 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1355747526 11p11.2 11 47577668C> T null R Q 136 136 missense 0.015 benign 0.39 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs924043384 11p11.2 11 47577663C> T null E K 138 138 missense 0.197 benign 0.03 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs1565936760 11p11.2 11 47577659T> C null E G 139 139 missense 0.149 benign 0.07 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1340123737 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 47577636A> C null S A 147 147 missense 0.0 benign 0.67 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1349642922 11p11.2 11 47577633C> G null D H 148 148 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs776470404 11p11.2 11 47577624G> T null Q K 151 151 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1297961008 11p11.2 11 47577620A> C null L R 152 152 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs768444132 11p11.2 11 47577617G> T null T K 153 153 missense 0.015 benign 0.06 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1382630188 11p11.2 11 47577612G> A null L F 155 155 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1382630188 11p11.2 11 47577612G> C null L V 155 155 missense 0.352 benign 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1366274365 11p11.2 11 47577593C> G null R P 161 161 missense 0.854 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1345707150 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 47577594G> A null R W 161 161 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs747311000 11p11.2 11 47577582G> A null R C 165 165 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs771167882 cosmic curated [Cosmic]: large_intestine, [Cosmic]: lung pubmed:22810696,cosmic_study:375,cosmic_study:417 11p11.2 11 47577581C> T null R H 165 165 missense 0.669 possibly damaging 0.07 tolerated 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs952989581 11p11.2 11 47577578G> A null T I 166 166 missense 0.963 probably damaging 0.05 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs779021685 11p11.2 11 47577576C> A null V L 167 167 missense 0.009 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1302115142 11p11.2 11 47577571T> G null Q H 168 168 missense 0.017 benign 0.15 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs997348390 11p11.2 11 47577572T> G null Q P 168 168 missense 0.395 benign 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1210415737 11p11.2 11 47577558G> A null L F 173 173 missense 0.943 probably damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs749395550 11p11.2 11 47577557A> G null L P 173 173 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1489239767 11p11.2 11 47577555G> A null Q * 174 174 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1268542010 11p11.2 11 47577554T> C null Q R 174 174 missense 0.005 benign 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1464109676 11p11.2 11 47577546A> G null W R 177 177 missense 0.012 benign 0.84 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs148905856 11p11.2 11 47577534G> C null R G 181 181 missense 0.029 benign 0.14 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs766141554 11p11.2 11 47577533C> T null R Q 181 181 missense 0.001 benign 0.23 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs148905856 11p11.2 11 47577534G> A null R W 181 181 missense 0.663 possibly damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs758349906 11p11.2 11 47577525C> T null D N 184 184 missense 0.963 probably damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1338710088 11p11.2 11 47577522G> A null P S 185 185 missense 0.003 benign 0.61 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs373466727 11p11.2 11 47577512T> C null Y C 188 188 missense 0.138 benign 0.09 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs750365754 11p11.2 11 47577513A> T null Y N 188 188 missense 0.361 benign 0.16 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1461365833 11p11.2 11 47577510T> C null T A 189 189 missense 0.005 benign 0.25 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs764781121 11p11.2 11 47577509G> A null T M 189 189 missense 0.683 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs778049613 11p11.2 11 47577507C> T null A T 190 190 missense 0.209 benign 0.2 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs776285354 11p11.2 11 47577506G> A null A V 190 190 missense 0.012 benign 0.08 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs763783339 11p11.2 11 47577498G> T null H N 193 193 missense 0.017 benign 0.49 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs760464375 11p11.2 11 47577494C> T null C Y 194 194 missense 0.001 benign 0.83 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs775921659 11p11.2 11 47577492C> T null A T 195 195 missense 0.834 possibly damaging 0.04 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs772365326 11p11.2 11 47577488T> C null K R 196 196 missense 0.914 probably damaging 0.05 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1456878365 11p11.2 11 47577485G> A null T I 197 197 missense 0.003 benign 0.24 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1456878365 11p11.2 11 47577485G> T null T N 197 197 missense 0.026 benign 0.43 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1316529286 11p11.2 11 47577476G> A null A V 200 200 missense 0.005 benign 0.45 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1342308122 11p11.2 11 47577474G> C null Q E 201 201 missense 0.011 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1316309150 11p11.2 11 47577463A> T null N K 204 204 missense 0.096 benign 0.91 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1257608697 11p11.2 11 47577462T> A null T S 205 205 missense 0.022 benign 0.58 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs890404634 11p11.2 11 47577457C> G null E D 206 206 missense 0.154 benign 0.05 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs749295622 11p11.2 11 47577458T> C null E G 206 206 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs867706101 11p11.2 11 47577459C> G null E Q 206 206 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1364573888 11p11.2 11 47577456C> G null E Q 207 207 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1273417052 11p11.2 11 47577446T> G null H P 210 210 missense 0.005 benign 0.07 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs777840109 11p11.2 11 47577444A> C null L V 211 211 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1053435857 11p11.2 11 47577440G> A null P L 212 212 missense 0.691 possibly damaging 0.1 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1053435857 11p11.2 11 47577440G> C null P R 212 212 missense 0.389 benign 0.41 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs756313060 11p11.2 11 47577441G> A null P S 212 212 missense 0.028 benign 0.35 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1353420046 11p11.2 11 47577438G> T null H N 213 213 missense 0.062 benign 0.43 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1230155627 11p11.2 11 47577437T> G null H P 213 213 missense 0.0 benign 0.25 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,NCI-TCGA,TOPMed rs374193777 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 47577435G> A null R C 214 214 missense 0.003 benign 0.08 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs779866095 11p11.2 11 47577434C> T null R H 214 214 missense 0.003 benign 0.19 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,gnomAD rs145548207 11p11.2 11 47577429G> A null L F 216 216 missense 0.412 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,gnomAD rs145548207 11p11.2 11 47577429G> C null L V 216 216 missense 0.505 possibly damaging 0.15 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs757274105 11p11.2 11 47577425G> T null T K 217 217 missense 0.015 benign 0.88 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs757274105 11p11.2 11 47577425G> C null T R 217 217 missense 0.019 benign 0.64 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs201020775 11p11.2 11 47577422T> G null D A 218 218 missense 0.287 benign 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs149725159 11p11.2 11 47577419A> T null I N 219 219 missense 0.894 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs149725159 11p11.2 11 47577419A> G null I T 219 219 missense 0.802 possibly damaging 0.03 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371150449 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 47577413G> A null S L 221 221 missense 0.267 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs371150449 11p11.2 11 47577413G> C null S W 221 221 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs999796422 11p11.2 11 47575693A> G null V A 224 224 missense 0.652 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs373425472 11p11.2 11 47575690G> A null P L 225 225 missense 0.014 benign 0.26 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs373425472 11p11.2 11 47575690G> T null P Q 225 225 missense 0.041 benign 0.19 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1361015404 11p11.2 11 47575688A> G null C R 226 226 missense 0.005 benign 0.64 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs1565933467 11p11.2 11 47575673T> C null T A 231 231 missense 0.003 benign 0.53 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs770900802 11p11.2 11 47575668C> G null E D 232 232 missense 0.026 benign 0.05 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,gnomAD rs140978536 11p11.2 11 47575667C> T null A T 233 233 missense 0.706 possibly damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes rs545835504 cosmic curated [Cosmic]: breast cosmic_study:414 11p11.2 11 47575663A> G null I T 234 234 2.0E-4 missense 0.885 possibly damaging 0.01 deleterious 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1317750767 11p11.2 11 47575664T> C null I V 234 234 missense 0.316 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146589294 11p11.2 11 47575661C> T null E K 235 235 5.99E-4 missense 0.005 benign 0.41 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1475650808 11p11.2 11 47575654C> T null W * 237 237 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1260142210 11p11.2 11 47575653C> A null W C 237 237 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs895266905 11p11.2 11 47575648T> G null N T 239 239 missense 0.113 benign 0.22 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1024779165 11p11.2 11 47575641A> T null N K 241 241 missense 0.287 benign 0.03 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs747557863 11p11.2 11 47575636T> C null E G 243 243 missense 0.543 possibly damaging 0.15 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1488259580 11p11.2 11 47575637C> G null E Q 243 243 missense 0.115 benign 0.29 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1013099367 11p11.2 11 47575627T> C null E G 246 246 missense 0.007 benign 0.17 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1265386823 11p11.2 11 47575625C> T null A T 247 247 missense 0.015 benign 0.23 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1228585017 11p11.2 11 47575624G> A null A V 247 247 missense 0.005 benign 0.19 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs754585682 11p11.2 11 47575619C> G null A P 249 249 missense 0.213 benign 0.14 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs189372465 11p11.2 11 47575618G> A null A V 249 249 5.99E-4 missense 0.007 benign 0.34 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1193860409 11p11.2 11 47575615T> C null E G 250 250 missense 0.015 benign 0.07 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,gnomAD rs144200484 11p11.2 11 47575612G> A null S L 251 251 missense 0.0 benign 0.31 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs758715771 11p11.2 11 47575610G> C null L V 252 252 missense 0.296 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1456310656 11p11.2 11 47575605C> A null R S 253 253 missense 0.005 benign 0.15 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs750819001 11p11.2 11 47575603G> A null T I 254 254 missense 0.056 benign 0.19 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs764529147 11p11.2 11 47573788T> A null E D 258 258 missense 0.003 benign 0.49 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs754415608 11p11.2 11 47573790C> G null E Q 258 258 missense 0.037 benign 0.25 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs760765614 11p11.2 11 47573786A> G null I T 259 259 missense 0.018 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1267204796 11p11.2 11 47573784C> T null G R 260 260 missense 0.185 benign 0.35 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs767787104 11p11.2 11 47573781C> A null E * 261 261 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs767787104 11p11.2 11 47573781C> T null E K 261 261 missense 0.003 benign 0.2 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs903787949 11p11.2 11 47573769T> C null I V 265 265 missense 0.007 benign 0.62 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1339653599 11p11.2 11 47573763G> C null L V 267 267 missense 0.098 benign 0.41 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1217133700 11p11.2 11 47573759A> G null I T 268 268 missense 0.71 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1240539690 11p11.2 11 47573760T> C null I V 268 268 missense 0.03 benign 0.03 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs769674732 11p11.2 11 47573752T> A null K N 270 270 missense 0.287 benign 0.15 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1236362465 11p11.2 11 47573742G> A null R C 274 274 missense 0.103 benign 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs780457703 [NCI-TCGA]: Variant assessed as Somatic; impact. 11p11.2 11 47573741C> T null R H 274 274 missense 0.541 possibly damaging 0.04 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs780457703 11p11.2 11 47573741C> A null R L 274 274 missense 0.047 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs746451387 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 47573732G> A null S L 277 277 missense 0.006 benign 0.41 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs746451387 11p11.2 11 47573732G> C null S W 277 277 missense 0.933 probably damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs1565931374 11p11.2 11 47573728C> A null L F 278 278 missense 0.511 possibly damaging 0.04 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs976089966 11p11.2 11 47573726G> T null A D 279 279 missense 0.885 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1464813550 11p11.2 11 47573720G> A null S F 281 281 missense 0.844 possibly damaging 0.17 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs965703669 11p11.2 11 47573717A> G null L S 282 282 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs745558885 11p11.2 11 47573715G> C null H D 283 283 missense 0.113 benign 0.47 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs745558885 11p11.2 11 47573715G> A null H Y 283 283 missense 0.212 benign 0.79 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1174873397 11p11.2 11 47573711C> T null C Y 284 284 missense 0.019 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes rs145366063 11p11.2 11 47573706C> G null E Q 286 286 missense 0.005 benign 0.17 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs757591605 11p11.2 11 47573702T> C null D G 287 287 missense 0.011 benign 0.24 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC rs754182984 11p11.2 11 47573700C> T null D N 288 288 missense 0.029 benign 0.42 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs778273465 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 47573697A> G null S P 289 289 missense 0.543 possibly damaging 0.94 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1241786492 11p11.2 11 47573691T> C null S G 291 291 missense 0.363 benign 0.3 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1252174587 11p11.2 11 47573690C> G null S T 291 291 missense 0.02 benign 0.65 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs756698270 11p11.2 11 47573688C> G null V L 292 292 missense 0.005 benign 0.77 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1280750629 11p11.2 11 47573683A> T null S R 293 293 missense 0.007 benign 0.07 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1374364230 11p11.2 11 47573666C> T null C Y 299 299 missense 0.782 possibly damaging 0.11 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs911308940 11p11.2 11 47573660T> C null Q R 301 301 missense 0.316 benign 0.71 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1307178986 11p11.2 11 47573654G> A null T I 303 303 missense 0.096 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1307178986 11p11.2 11 47573654G> T null T N 303 303 missense 0.685 possibly damaging 0.03 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs767776935 11p11.2 11 47573652C> T null A T 304 304 missense 0.71 possibly damaging 0.13 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs759804817 11p11.2 11 47573651G> A null A V 304 304 missense 0.187 benign 0.04 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1453199657 11p11.2 11 47573649C> T null A T 305 305 missense 0.059 benign 0.23 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1174605077 11p11.2 11 47573640G> A null H Y 308 308 missense 0.357 benign 0.25 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1451927296 11p11.2 11 47573630T> C null D G 311 311 missense 0.961 probably damaging 0.03 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs776295137 11p11.2 11 47573625A> G null Y H 313 313 missense 0.998 probably damaging 0.05 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1157556081 11p11.2 11 47573604G> C null P A 320 320 missense 0.089 benign 0.06 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1470166331 11p11.2 11 47573600C> T null R Q 321 321 missense 0.193 benign 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs760663862 11p11.2 11 47573598G> A null R C 322 322 missense 0.827 possibly damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs774949831 11p11.2 11 47573597C> T null R H 322 322 missense 0.781 possibly damaging 0.12 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1422863502 11p11.2 11 47573591C> T null W * 324 324 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs745403900 11p11.2 11 47573582T> A null N I 327 327 missense 0.847 possibly damaging 0.1 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs745403900 11p11.2 11 47573582T> G null N T 327 327 missense 0.454 possibly damaging 0.05 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,gnomAD rs144325348 11p11.2 11 47573579T> C null N S 328 328 missense 0.015 benign 0.86 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1046517505 11p11.2 11 47573571C> T null V I 331 331 missense 0.0 benign 0.98 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs749606273 11p11.2 11 47573540C> T null R Q 341 341 missense 0.021 benign 0.06 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs931437850 11p11.2 11 47573541G> A null R W 341 341 missense 0.886 possibly damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1262557322 11p11.2 11 47573536G> C null D E 342 342 missense 0.882 possibly damaging 0.27 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs758741599 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 47573537T> C null D G 342 342 missense 0.214 benign 0.68 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1354986037 11p11.2 11 47573534C> T null R Q 343 343 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1242973813 11p11.2 11 47573535G> A null R W 343 343 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs781403257 11p11.2 11 47573528T> G null Q P 345 345 missense 0.3 benign 0.2 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs781403257 11p11.2 11 47573528T> C null Q R 345 345 missense 0.017 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs755063316 11p11.2 11 47573511C> G null V L 351 351 missense 0.037 benign 0.89 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1036617814 [NCI-TCGA]: Variant assessed as Somatic; impact. 11p11.2 11 47573505C> T null G R 353 353 missense 0.254 benign 0.14 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1457096443 11p11.2 11 47573502T> G null K Q 354 354 missense 0.005 benign 0.06 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,dbSNP,gnomAD rs11039302 11p11.2 11 47573499C> T null D N 355 355 missense 0.091 benign 0.39 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs11039302 11p11.2 11 47573499C> A null D Y 355 355 missense 0.837 possibly damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1189824740 11p11.2 11 47573490A> G null Y H 358 358 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1262161714 11p11.2 11 47573480C> T null G D 361 361 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1476695065 11p11.2 11 47573481C> T null G S 361 361 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1193871242 11p11.2 11 47573469G> C null L V 365 365 missense 0.26 benign 0.31 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs1565930764 11p11.2 11 47573466G> A null Q * 366 366 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs867676589 11p11.2 11 47573460T> C null T A 368 368 missense 0.149 benign 0.3 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs760584018 11p11.2 11 47573459G> A null T I 368 368 missense 0.007 benign 0.18 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs909392785 11p11.2 11 47573456A> C null L R 369 369 missense 0.655 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1208078978 11p11.2 11 47573454A> C null S A 370 370 missense 0.882 possibly damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs754116406 11p11.2 11 47573448C> T null A T 372 372 missense 0.063 benign 0.1 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs767471949 11p11.2 11 47573447G> A null A V 372 372 missense 0.029 benign 0.15 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs758977537 11p11.2 11 47573434A> C null Y * 376 376 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1316498254 11p11.2 11 47573433G> A null R C 377 377 missense 0.663 possibly damaging 0.03 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs773744022 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p11.2 11 47573432C> T null R H 377 377 missense 0.322 benign 0.09 tolerated 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs773599306 11p11.2 11 47573429A> G null V A 378 378 missense 0.155 benign 0.55 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs748955906 11p11.2 11 47573430C> T null V I 378 378 missense 0.249 benign 0.48 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs770334695 11p11.2 11 47573417A> G null V A 382 382 missense 0.039 benign 0.53 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs748549438 11p11.2 11 47573411G> A null T I 384 384 missense 0.043 benign 0.44 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1463712760 11p11.2 11 47573409C> T null E K 385 385 missense 0.193 benign 0.24 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs781751790 11p11.2 11 47573405G> C null T R 386 386 missense 0.305 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs755548747 11p11.2 11 47573400G> A null Q * 388 388 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs1565930618 11p11.2 11 47573390A> G null V A 391 391 missense 0.041 benign 0.7 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs747054418 11p11.2 11 47573391C> T null V M 391 391 missense 0.253 benign 0.1 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs780056745 11p11.2 11 47573387G> A null A V 392 392 missense 0.735 possibly damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs758643174 11p11.2 11 47573385C> T null V M 393 393 missense 0.73 possibly damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs200513185 11p11.2 11 47573373C> A null A S 397 397 missense 0.098 benign 0.07 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs923366379 11p11.2 11 47573369C> A null G V 398 398 missense 0.437 benign 0.34 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs750660482 11p11.2 11 47573366G> A null A V 399 399 missense 0.0 benign 0.58 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs137865982 11p11.2 11 47573357T> C null N S 402 402 missense 0.021 benign 0.88 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs755861672 11p11.2 11 47573355C> T null G R 403 403 missense 0.235 benign 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1342110121 11p11.2 11 47573349T> C null I V 405 405 missense 0.755 possibly damaging 0.3 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs752492316 11p11.2 11 47573345T> C null Y C 406 406 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs202025464 11p11.2 11 47573340G> C null L V 408 408 5.99E-4 missense 0.037 benign 0.45 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs201265377 11p11.2 11 47573336C> G null G A 409 409 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs201265377 11p11.2 11 47573336C> T null G E 409 409 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs976529229 11p11.2 11 47573337C> T null G R 409 409 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs201265377 11p11.2 11 47573336C> A null G V 409 409 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs748459776 11p11.2 11 47573334C> T null G R 410 410 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs748459776 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 47573334C> A null G W 410 410 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs747537172 11p11.2 11 47573329C> A null E D 411 411 missense 0.322 benign 0.63 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC rs769275108 11p11.2 11 47573330T> C null E G 411 411 missense 0.001 benign 0.64 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs777150629 11p11.2 11 47573331C> T null E K 411 411 missense 0.062 benign 0.57 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ExAC,gnomAD rs545542449 11p11.2 11 47573325T> C null N D 413 413 2.0E-4 missense 0.196 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs758359875 11p11.2 11 47573314G> C null D E 416 416 missense 0.688 possibly damaging 0.07 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs774301160 11p11.2 11 47573306G> A null T I 419 419 missense 0.956 probably damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs573371430 11p11.2 11 47573303T> C null K R 420 420 2.0E-4 missense 0.029 benign 0.3 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs573371430 11p11.2 11 47573303T> G null K T 420 420 2.0E-4 missense 0.03 benign 0.6 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs757481355 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 11p11.2 11 47573294C> T null R Q 423 423 missense 0.69 possibly damaging 0.15 tolerated 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs752474032 11p11.2 11 47573291A> G null L P 424 424 missense 0.691 possibly damaging 0.12 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs566843147 11p11.2 11 47573292G> C null L V 424 424 missense 0.012 benign 0.09 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs957927279 11p11.2 11 47573283A> T null C S 427 427 missense 0.187 benign 0.24 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs767363483 11p11.2 11 47573278A> T null F L 428 428 missense 0.018 benign 0.04 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs754909672 11p11.2 11 47573265C> A null D Y 433 433 missense 0.601 possibly damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1402718303 11p11.2 11 47573261T> C null K R 434 434 missense 0.012 benign 0.55 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1299586385 11p11.2 11 47573255T> C null H R 436 436 missense 0.005 benign 0.49 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1372198329 11p11.2 11 47573247G> T null P T 439 439 missense 0.059 benign 0.03 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs766367041 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p11.2 11 47573243T> C null Y C 440 440 missense 0.378 benign 0.12 tolerated 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1001981342 11p11.2 11 47573244A> C null Y D 440 440 missense 0.437 benign 0.15 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1001981342 11p11.2 11 47573244A> G null Y H 440 440 missense 0.975 probably damaging 0.36 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ExAC,gnomAD rs199567761 11p11.2 11 47573241C> A null V L 441 441 missense 0.003 benign 0.39 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1292941496 11p11.2 11 47573234G> A null P L 443 443 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC rs764926642 11p11.2 11 47573235G> A null P S 443 443 missense 0.998 probably damaging 0.14 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1417352720 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 47573223G> A null R C 447 447 missense 0.0 benign 0.21 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs558994168 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11p11.2 11 47573222C> T null R H 447 447 3.99E-4 missense 0.005 benign 0.26 tolerated 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1178043772 11p11.2 11 47573217G> A null H Y 449 449 missense 0.99 probably damaging 0.1 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs768943581 11p11.2 11 47573214C> T null A T 450 450 missense 0.987 probably damaging 0.68 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs761122474 11p11.2 11 47573210G> A null A V 451 451 missense 0.167 benign 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs772635290 11p11.2 11 47573207A> G null V A 452 452 missense 0.045 benign 0.11 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs772635290 11p11.2 11 47573207A> T null V E 452 452 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1317986385 11p11.2 11 47573200T> A null K N 454 454 missense 0.019 benign 0.25 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1283043274 11p11.2 11 47573199C> G null D H 455 455 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1283043274 11p11.2 11 47573199C> T null D N 455 455 missense 0.994 probably damaging 0.72 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs745888062 11p11.2 11 47573195A> G null L P 456 456 missense 0.876 possibly damaging 0.17 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1417523630 11p11.2 11 47573190A> T null F I 458 458 missense 0.986 probably damaging 0.97 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs771134541 11p11.2 11 47573187T> C null I V 459 459 missense 0.028 benign 0.68 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1292459357 11p11.2 11 47573184C> T null V M 460 460 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs754683732 11p11.2 11 47573174C> T null G E 463 463 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs780938950 11p11.2 11 47573175C> G null G R 463 463 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs200102394 11p11.2 11 47573163C> A null V L 467 467 missense 0.003 benign 0.34 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs1555196263 11p11.2 11 47573154T> C null N D 470 470 missense 0.99 probably damaging 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1344744927 11p11.2 11 47573152A> T null N K 470 470 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1185348236 11p11.2 11 47573129C> T null R Q 478 478 missense 0.977 probably damaging 0.12 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs573433525 11p11.2 11 47573130G> A null R W 478 478 2.0E-4 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1242201206 11p11.2 11 47573117G> A null P L 482 482 missense 0.954 probably damaging 0.06 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs753594386 11p11.2 11 47573105C> T null S N 486 486 missense 0.836 possibly damaging 0.33 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1233488420 11p11.2 11 47573102G> C null S C 487 487 missense 0.007 benign 0.15 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs760881188 11p11.2 11 47573099G> A null A V 488 488 missense 0.001 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs775934302 11p11.2 11 47573094A> C null S A 490 490 missense 0.298 benign 0.05 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs772442324 11p11.2 11 47573093G> T null S Y 490 490 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1289546409 11p11.2 11 47573091G> A null L F 491 491 missense 0.007 benign 0.29 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs771044336 11p11.2 11 47573080A> C null I M 494 494 missense 0.859 possibly damaging 0.88 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs200689934 11p11.2 11 47573081A> G null I T 494 494 2.0E-4 missense 0.476 possibly damaging 0.14 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,NCI-TCGA,TOPMed,gnomAD rs140618424 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p11.2 11 47573079C> T null A T 495 495 missense 1.0 probably damaging 0.52 tolerated 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1288654504 11p11.2 11 47573072C> T null C Y 497 497 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs888010650 11p11.2 11 47573068G> T null N K 498 498 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1240428260 11p11.2 11 47573066C> T null G E 499 499 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs777822290 11p11.2 11 47573067C> T null G R 499 499 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs937649487 11p11.2 11 47573063C> A null S I 500 500 missense 0.243 benign 0.04 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs926394120 11p11.2 11 47573061T> A null I F 501 501 missense 0.599 possibly damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs770062216 11p11.2 11 47573057T> C null Y C 502 502 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1442732109 11p11.2 11 47573055C> A null V F 503 503 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs779958294 11p11.2 11 47573048C> T null R Q 505 505 missense 0.856 possibly damaging 0.11 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs746726124 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 11p11.2 11 47573049G> A null R W 505 505 missense 0.924 probably damaging 0.02 deleterious 1 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs758265819 11p11.2 11 47573043G> A null R * 507 507 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs750426060 11p11.2 11 47573042C> T null R Q 507 507 missense 0.194 benign 0.06 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1156573862 11p11.2 11 47573039T> C null Y C 508 508 missense 0.003 benign 0.18 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs753402225 11p11.2 11 47573018G> A null T I 515 515 missense 0.986 probably damaging 0.5 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs753402225 11p11.2 11 47573018G> C null T S 515 515 missense 0.986 probably damaging 0.16 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1226358900 11p11.2 11 47573016A> G null Y H 516 516 missense 0.771 possibly damaging 0.32 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,gnomAD rs755852292 11p11.2 11 47573006T> G null D A 519 519 missense 0.272 benign 0.01 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1297690080 11p11.2 11 47573007C> T null D N 519 519 missense 0.005 benign 0.36 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1368947671 11p11.2 11 47573003G> A null P L 520 520 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs923395365 11p11.2 11 47573001C> T null A T 521 521 missense 0.999 probably damaging 0.09 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1441928437 11p11.2 11 47572991G> A null A V 524 524 missense 0.003 benign 1.0 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs3207211 11p11.2 11 47572989C> T null V I 525 525 missense 0.03 benign 0.72 tolerated 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1451160652 11p11.2 11 47572979G> A null T I 528 528 missense 0.003 benign 0.26 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed rs1019247549 11p11.2 11 47572977T> C null R G 529 529 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs1052452081 11p11.2 11 47572976C> A null R I 529 529 missense 0.522 possibly damaging 0.06 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 Ensembl rs1565929636 11p11.2 11 47572965C> G null V L 533 533 missense 0.168 benign 0.05 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1453102045 11p11.2 11 47572952T> C null N S 537 537 missense 0.702 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1453102045 11p11.2 11 47572952T> G null N T 537 537 missense 0.864 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs774788281 11p11.2 11 47572949A> T null L * 538 538 stop gained 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ExAC,TOPMed,gnomAD rs774788281 11p11.2 11 47572949A> C null L W 538 538 missense 0.024 benign 0.24 tolerated - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs139967520 11p11.2 11 47572942A> C null F L 540 540 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 TOPMed,gnomAD rs1455316520 11p11.2 11 47572940A> G null V A 541 541 missense 0.597 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 gnomAD rs1347659834 11p11.2 11 47572937A> G null L S 542 542 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T4 KBTBD4 Kelch repeat and BTB domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs151128181 11p11.2 11 47572935C> T null A T 543 543 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs1454381053 14q11.2 14 21887968T> A null S T 3 3 missense 0.347 benign 0.42 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1483327651 14q11.2 14 21887972T> C null L S 4 4 missense 0.005 benign 0.15 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs756436084 14q11.2 14 21887978T> A null V D 6 6 missense 0.857 possibly damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs756436084 14q11.2 14 21887978T> G null V G 6 6 missense 0.743 possibly damaging 0.06 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs1268994885 14q11.2 14 21887984T> A null L Q 8 8 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1161762584 14q11.2 14 21887993T> C null L P 11 11 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1210095683 14q11.2 14 21887996G> A null W * 12 12 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 Ensembl rs758367783 14q11.2 14 21887998C> T null L F 13 13 missense 0.943 probably damaging 0.04 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1401753886 14q11.2 14 21888008G> A null S N 16 16 missense 0.003 benign 0.52 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs762178980 14q11.2 14 21888213G> A null W * 17 17 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs776912620 14q11.2 14 21888212G> A null W * 17 17 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371809438 14q11.2 14 21888215T> A null V D 18 18 2.0E-4 missense 0.714 possibly damaging 0.01 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs765612015 14q11.2 14 21888214G> T null V F 18 18 missense 0.646 possibly damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs765612015 14q11.2 14 21888214G> A null V I 18 18 missense 0.196 benign 0.04 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs911262600 14q11.2 14 21888226C> T null Q * 22 22 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs911262600 14q11.2 14 21888226C> A null Q K 22 22 missense 0.479 possibly damaging 0.05 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs766470834 14q11.2 14 21888227A> C null Q P 22 22 missense 0.855 possibly damaging 0.04 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs766470834 14q11.2 14 21888227A> G null Q R 22 22 missense 0.708 possibly damaging 0.02 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ESP,ExAC,TOPMed,gnomAD rs371744624 14q11.2 14 21888231G> T null K N 23 23 missense 0.837 possibly damaging 0.11 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs745595111 14q11.2 14 21888233A> G null E G 24 24 missense 0.017 benign 0.2 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs759768201 14q11.2 14 21888235G> A null V M 25 25 missense 0.714 possibly damaging 0.03 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs753643036 14q11.2 14 21888240G> C null E D 26 26 missense 0.14 benign 0.21 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs767867618 14q11.2 14 21888239A> G null E G 26 26 missense 0.14 benign 0.09 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1220882369 14q11.2 14 21888241C> T null Q * 27 27 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1457751735 14q11.2 14 21888251G> A null G E 30 30 missense 0.013 benign 1.0 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed,gnomAD rs1214854848 14q11.2 14 21888253C> A null P T 31 31 missense 0.01 benign 0.43 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs1316202919 14q11.2 14 21888256C> G null L V 32 32 missense 0.956 probably damaging 0.03 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ESP,ExAC,TOPMed,gnomAD rs376401193 14q11.2 14 21888260G> A null S N 33 33 missense 0.029 benign 0.19 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ESP,ExAC,TOPMed,gnomAD rs376401193 14q11.2 14 21888260G> C null S T 33 33 missense 0.053 benign 0.63 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ESP,ExAC,TOPMed,gnomAD rs368805134 14q11.2 14 21888269A> C null E A 36 36 missense 0.462 possibly damaging 0.03 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed,gnomAD rs1196056483 14q11.2 14 21888272G> A null G E 37 37 missense 0.833 possibly damaging 0.01 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed,gnomAD rs968956809 14q11.2 14 21888279T> G null I M 39 39 missense 0.022 benign 0.24 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 Ensembl rs769869365 14q11.2 14 21888278T> C null I T 39 39 missense 0.006 benign 1.0 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs1416063471 14q11.2 14 21888281C> G null A G 40 40 missense 0.891 possibly damaging 0.01 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs1164660956 14q11.2 14 21888283T> A null S T 41 41 missense 0.328 benign 0.41 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs758323035 14q11.2 14 21888287T> A null L H 42 42 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ESP,TOPMed rs374442870 14q11.2 14 21888290A> G null N S 43 43 missense 0.828 possibly damaging 0.05 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs746525140 14q11.2 14 21888300C> A null Y * 46 46 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs746525140 14q11.2 14 21888300C> G null Y * 46 46 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed,gnomAD rs1294036218 14q11.2 14 21888301A> G null S G 47 47 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs768238777 14q11.2 14 21888307C> T null R * 49 49 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs58139848 14q11.2 14 21888308G> C null R P 49 49 0.007588 missense 0.035 benign 0.03 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs58139848 14q11.2 14 21888308G> A null R Q 49 49 0.007588 missense 0.531 possibly damaging 0.02 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs770174419 14q11.2 14 21888310G> T null G C 50 50 missense 0.854 possibly damaging 0.04 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17182881 14q11.2 14 21888311G> A null G D 50 50 0.254 missense 0.021 benign 0.06 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17182881 14q11.2 14 21888311G> T null G V 50 50 0.254 missense 0.219 benign 0.11 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 Ensembl rs267603930 14q11.2 14 21888314C> T null S F 51 51 missense 0.234 benign 0.38 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed,gnomAD rs879667592 14q11.2 14 21888316C> T null Q * 52 52 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 Ensembl rs938975553 14q11.2 14 21888317A> G null Q R 52 52 missense 0.017 benign 0.07 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117180958 14q11.2 14 21888330G> T null W C 56 56 0.009984 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1267768042 14q11.2 14 21888333_21888349de l null Y * 57 57 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs774518182 14q11.2 14 21888332A> G null Y C 57 57 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs759713951 14q11.2 14 21888334A> G null R G 58 58 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ESP,ExAC,TOPMed,gnomAD rs372858132 14q11.2 14 21888335G> T null R I 58 58 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1488440411 14q11.2 14 21888337C> T null Q * 59 59 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1260844485 14q11.2 14 21888344C> G null S C 61 61 missense 0.106 benign 0.03 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 Ensembl rs865895091 14q11.2 14 21888355C> T null P S 65 65 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs1321983671 14q11.2 14 21888358G> A null E K 66 66 missense 0.175 benign 0.71 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs949166219 14q11.2 14 21888363G> T null L F 67 67 missense 0.073 benign 0.57 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs765063317 14q11.2 14 21888361T> G null L V 67 67 missense 0.121 benign 0.06 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs779977784 14q11.2 14 21888365T> C null I T 68 68 missense 0.012 benign 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs758286665 14q11.2 14 21888364A> G null I V 68 68 missense 0.0 benign 0.05 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10483261 14q11.2 14 21888371T> C null F S 70 70 0.398 missense 0.0 benign 1.0 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 Ensembl rs998993779 14q11.2 14 21888375A> G null I M 71 71 missense 0.138 benign 0.06 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed,gnomAD rs1402159765 14q11.2 14 21888373A> G null I V 71 71 missense 0.03 benign 0.13 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs754513808 14q11.2 14 21888377A> T null Y F 72 72 missense 0.03 benign 0.7 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs754513808 14q11.2 14 21888377A> C null Y S 72 72 missense 0.198 benign 0.39 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs780730353 14q11.2 14 21888383A> G null N S 74 74 missense 0.03 benign 0.61 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs745329413 14q11.2 14 21888385G> T null G C 75 75 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1339263738 14q11.2 14 21888386G> A null G D 75 75 missense 0.939 probably damaging 0.51 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs745329413 14q11.2 14 21888385G> A null G S 75 75 missense 0.956 probably damaging 0.72 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ESP,ExAC,TOPMed,gnomAD rs370272700 14q11.2 14 21888389A> G null D G 76 76 missense 0.614 possibly damaging 0.04 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61744739 14q11.2 14 21888391A> C null K Q 77 77 0.008586 missense 0.596 possibly damaging 0.04 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 Ensembl rs767129731 14q11.2 14 21888404G> T null R M 81 81 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs1475382148 14q11.2 14 21888405G> C null R S 81 81 missense 0.828 possibly damaging 0.02 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC rs771518322 14q11.2 14 21888406T> C null F L 82 82 missense 0.781 possibly damaging 0.31 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1283454546 14q11.2 14 21888409A> G null T A 83 83 missense 0.192 benign 0.04 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 Ensembl rs1555361566 14q11.2 14 21888412G> A null A T 84 84 missense 0.328 benign 0.02 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1487735921 14q11.2 14 21888416A> G null Q R 85 85 missense 0.118 benign 0.36 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs963254768 14q11.2 14 21888421A> C null N H 87 87 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1257985971 14q11.2 14 21888422A> G null N S 87 87 missense 0.172 benign 0.25 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1422046702 14q11.2 14 21888427G> A null A T 89 89 missense 0.166 benign 0.5 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs1190588771 14q11.2 14 21888431G> T null S I 90 90 missense 0.953 probably damaging 0.02 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs772252008 14q11.2 14 21888433C> T null Q * 91 91 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs1037758725 14q11.2 14 21888434A> G null Q R 91 91 missense 0.009 benign 0.27 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed rs897522317 14q11.2 14 21888440T> C null V A 93 93 missense 0.64 possibly damaging 0.02 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs775486983 14q11.2 14 21888439G> A null V I 93 93 missense 0.06 benign 0.17 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 Ensembl rs1566749920 14q11.2 14 21888442T> A null S T 94 94 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs760943601 14q11.2 14 21888448C> T null L F 96 96 missense 0.017 benign 0.07 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371159445 14q11.2 14 21888455G> A null R K 98 98 2.0E-4 missense 0.155 benign 0.73 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 TOPMed,gnomAD rs1450552567 14q11.2 14 21888459C> G null D E 99 99 missense 0.45 possibly damaging 0.36 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1396027746 14q11.2 14 21888457G> A null D N 99 99 missense 0.958 probably damaging 0.27 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs766263450 14q11.2 14 21888463C> T null Q * 101 101 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1241727811 14q11.2 14 21888467C> T null P L 102 102 missense 0.026 benign 0.11 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 Ensembl rs1397202446 14q11.2 14 21888466C> A null P T 102 102 missense 0.559 possibly damaging 0.03 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1306417137 14q11.2 14 21888469A> T null S C 103 103 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC rs751467377 14q11.2 14 21888470G> C null S T 103 103 missense 0.32 benign 0.02 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs767010258 14q11.2 14 21888473A> G null D G 104 104 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs755736652 14q11.2 14 21888486C> G null Y * 108 108 stop gained 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs777315802 14q11.2 14 21888487C> T null L F 109 109 missense 0.212 benign 1.0 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,gnomAD rs777315802 14q11.2 14 21888487C> A null L I 109 109 missense 0.967 probably damaging 0.04 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 gnomAD rs1238740364 14q11.2 14 21888492T> G null C W 110 110 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs757668504 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21888496G> T null V L 112 112 missense 0.062 benign 0.08 tolerated 0 A0A075B6T6 TRAV12-2 T cell receptor alpha variable 12-2 ExAC,TOPMed,gnomAD rs757668504 14q11.2 14 21888496G> A null V M 112 112 missense 0.353 benign 0.08 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1175182359 14q11.2 14 21768515G> T null S I 7 7 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1175182359 14q11.2 14 21768515G> A null S N 7 7 missense 0.0 unknown 0.26 tolerated - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs766738 14q11.2 14 21768516C> A null S R 7 7 missense 0.003 benign 1.0 tolerated - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs766738 14q11.2 14 21768516C> G null S R 7 7 missense 0.003 benign 1.0 tolerated - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs756216442 14q11.2 14 21768523C> A null L I 10 10 missense 0.078 benign 0.11 tolerated - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs756216442 14q11.2 14 21768523C> G null L V 10 10 missense 0.012 benign 0.09 tolerated - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ESP,ExAC,gnomAD rs370152656 14q11.2 14 21768526C> T null H Y 11 11 missense 0.461 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34634018 14q11.2 14 21768536C> T null P L 14 14 0.03135 missense 0.01 benign 0.01 deleterious - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs746854179 14q11.2 14 21768535C> T null P S 14 14 missense 0.01 benign 0.39 tolerated - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs747677199 14q11.2 14 21768539A> G null H R 15 15 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs776616011 14q11.2 14 21768538C> T null H Y 15 15 missense 0.091 benign 0.02 deleterious - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,NCI-TCGA,TOPMed,gnomAD rs762541530 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 14q11.2 14 21768550C> T null R * 19 19 stop gained 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed,gnomAD rs981116475 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21768551G> A null R Q 19 19 missense 0.755 possibly damaging 0.63 tolerated - low confidence 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs766803181 14q11.2 14 21768553A> G null M V 20 20 missense 0.947 probably damaging 0.02 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs774837150 14q11.2 14 21768556G> C null E Q 21 21 missense 0.547 possibly damaging 0.13 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs758953407 14q11.2 14 21768559T> G null S A 22 22 missense 0.12 benign 0.1 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 Ensembl rs1035315886 14q11.2 14 21768560C> T null S L 22 22 missense 0.088 benign 0.04 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ExAC,TOPMed,gnomAD rs558607160 14q11.2 14 21768562T> C null F L 23 23 2.0E-4 missense 0.005 benign 1.0 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ExAC,TOPMed,gnomAD rs558607160 14q11.2 14 21768562T> G null F V 23 23 2.0E-4 missense 0.195 benign 0.32 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs753202861 14q11.2 14 21768566T> C null L P 24 24 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs764087188 14q11.2 14 21768569G> A null G E 25 25 missense 0.122 benign 0.12 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed,gnomAD rs1275087732 14q11.2 14 21768572G> A null G D 26 26 missense 0.429 benign 0.02 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs754041192 14q11.2 14 21768581T> G null L R 29 29 missense 0.9 possibly damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs757446750 14q11.2 14 21768595C> T null Q * 34 34 stop gained 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs757446750 14q11.2 14 21768595C> G null Q E 34 34 missense 0.857 possibly damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1253719989 14q11.2 14 21768596A> T null Q L 34 34 missense 0.224 benign 0.02 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs751350931 14q11.2 14 21768599T> C null V A 35 35 missense 0.319 benign 0.04 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs368213878 14q11.2 14 21768598G> C null V L 35 35 missense 0.005 benign 1.0 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1338185089 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 14q11.2 14 21768793G> A null W * 37 37 stop gained 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed,gnomAD rs1232352097 14q11.2 14 21768604T> C null W R 37 37 missense 0.07 benign 0.27 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed,gnomAD rs1232352097 14q11.2 14 21768604T> A null W R 37 37 missense 0.07 benign 0.27 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1399117969 14q11.2 14 21768800G> C null K N 39 39 missense 0.007 benign 0.71 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs765432083 14q11.2 14 21768801A> G null S G 40 40 missense 0.185 benign 0.82 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed rs1260248726 14q11.2 14 21768807A> C null K Q 42 42 missense 0.013 benign 1.0 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs754701324 14q11.2 14 21768810A> C null I L 43 43 missense 0.012 benign 0.03 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367562162 14q11.2 14 21768811T> C null I T 43 43 3.99E-4 missense 0.009 benign 0.01 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs754701324 14q11.2 14 21768810A> G null I V 43 43 missense 0.001 benign 1.0 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ESP,ExAC,gnomAD rs371439774 14q11.2 14 21768813G> C null E Q 44 44 missense 0.614 possibly damaging 0.05 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs755985091 14q11.2 14 21768820A> G null N S 46 46 missense 0.051 benign 0.87 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs777808247 14q11.2 14 21768823C> A null S Y 47 47 missense 0.07 benign 0.03 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs770622944 14q11.2 14 21768825G> A null E K 48 48 missense 0.119 benign 0.31 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61736149 14q11.2 14 21768826A> T null E V 48 48 0.003594 missense 0.425 benign 0.13 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs867501862 14q11.2 14 21768829C> A null A D 49 49 missense 0.93 probably damaging 0.02 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs745523507 14q11.2 14 21768828G> A null A T 49 49 missense 0.32 benign 0.77 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs867501862 14q11.2 14 21768829C> T null A V 49 49 missense 0.219 benign 0.12 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ESP,ExAC,TOPMed,gnomAD rs2242532 14q11.2 14 21768835A> T null N I 51 51 missense 0.031 benign 0.15 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ESP,ExAC,TOPMed,gnomAD rs2242532 14q11.2 14 21768835A> G null N S 51 51 missense 0.013 benign 1.0 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs761138682 14q11.2 14 21768837A> G null I V 52 52 missense 0.147 benign 1.0 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 Ensembl rs1566665734 14q11.2 14 21768840C> A null Q K 53 53 missense 0.316 benign 0.02 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed rs1415988316 14q11.2 14 21768841A> G null Q R 53 53 missense 0.091 benign 0.12 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs777249393 14q11.2 14 21768844A> G null E G 54 54 missense 0.781 possibly damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1418914783 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21768843G> C null E Q 54 54 missense 0.918 probably damaging 0.01 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1377260134 14q11.2 14 21768846G> A null G S 55 55 missense 0.945 probably damaging 0.01 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 Ensembl rs930418824 14q11.2 14 21768853C> T null T M 57 57 missense 0.261 benign 0.11 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143220366 14q11.2 14 21768856C> A null A D 58 58 0.002196 missense 0.947 probably damaging 0.05 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed,gnomAD rs1311829788 14q11.2 14 21768855G> T null A S 58 58 missense 0.439 benign 1.0 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed,gnomAD rs1311829788 14q11.2 14 21768855G> A null A T 58 58 missense 0.79 possibly damaging 0.19 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs773381314 14q11.2 14 21768858A> G null T A 59 59 missense 0.413 benign 0.25 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs763182681 14q11.2 14 21768861C> G null L V 60 60 missense 0.279 benign 0.09 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ESP,ExAC,TOPMed,gnomAD rs369669771 14q11.2 14 21768874A> G null Y C 64 64 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs752405455 14q11.2 14 21768873T> C null Y H 64 64 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ESP,ExAC,TOPMed,gnomAD rs369669771 14q11.2 14 21768874A> C null Y S 64 64 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs763925576 14q11.2 14 21768876A> G null T A 65 65 missense 0.413 benign 0.22 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed,gnomAD rs968705101 14q11.2 14 21768883A> G null Y C 67 67 missense 0.892 possibly damaging 0.06 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed rs1326987672 14q11.2 14 21768892C> T null A V 70 70 missense 0.031 benign 0.25 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147905959 14q11.2 14 21768900C> G null Q E 73 73 0.002196 missense 0.888 possibly damaging 0.33 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ExAC,TOPMed,gnomAD rs535956671 14q11.2 14 21768903T> A null W R 74 74 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ESP,ExAC,TOPMed,gnomAD rs370281217 14q11.2 14 21768904G> C null W S 74 74 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs777055732 14q11.2 14 21768906T> A null Y N 75 75 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17110382 14q11.2 14 21768909C> T null R * 76 76 0.003195 stop gained 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1449140474 14q11.2 14 21768910G> C null R P 76 76 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1449140474 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21768910G> A null R Q 76 76 missense 0.982 probably damaging 0.09 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs943646522 14q11.2 14 21768912C> T null Q * 77 77 stop gained 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed,gnomAD rs1376513075 14q11.2 14 21768924A> G null R G 81 81 missense 0.127 benign 0.02 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs769814090 14q11.2 14 21768925G> A null R K 81 81 missense 0.062 benign 1.0 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1305853831 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21768927G> T null G C 82 82 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs773251941 14q11.2 14 21768928G> A null G D 82 82 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs766507568 14q11.2 14 21768931C> T null P L 83 83 missense 0.01 benign 0.75 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed rs1374155837 14q11.2 14 21768930C> A null P T 83 83 missense 0.879 possibly damaging 0.02 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs763959131 14q11.2 14 21768938C> G null F L 85 85 missense 0.007 benign 0.89 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ESP,ExAC,TOPMed,gnomAD rs201309131 14q11.2 14 21768937T> C null F S 85 85 missense 0.013 benign 0.13 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC rs753790116 14q11.2 14 21768943T> C null L P 87 87 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1456879999 14q11.2 14 21768945C> T null L F 88 88 missense 0.749 possibly damaging 0.7 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed,gnomAD rs1426769108 14q11.2 14 21768949T> C null I T 89 89 missense 0.395 benign 0.03 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ESP,ExAC,TOPMed,gnomAD rs368276387 14q11.2 14 21768951C> T null R C 90 90 missense 0.142 benign 0.03 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ExAC,TOPMed,gnomAD rs538302698 14q11.2 14 21768952G> A null R H 90 90 2.0E-4 missense 0.245 benign 0.16 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ExAC,TOPMed,gnomAD rs538302698 14q11.2 14 21768952G> T null R L 90 90 2.0E-4 missense 0.109 benign 0.21 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ExAC,TOPMed,gnomAD rs538302698 14q11.2 14 21768952G> C null R P 90 90 2.0E-4 missense 0.956 probably damaging 0.05 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ExAC,NCI-TCGA,gnomAD rs558805565 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21768954G> A null E K 91 91 2.0E-4 missense 0.312 benign 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1467107448 14q11.2 14 21768959T> A null N K 92 92 missense 0.32 benign 0.12 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1168368125 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21768960G> A null E K 93 93 missense 0.493 possibly damaging 0.78 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,NCI-TCGA,gnomAD rs755257078 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 14q11.2 14 21768966G> T null E * 95 95 stop gained 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1295557329 14q11.2 14 21768967A> C null E A 95 95 missense 0.808 possibly damaging 0.06 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1295557329 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21768967A> G null E G 95 95 missense 0.93 probably damaging 0.05 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs755257078 14q11.2 14 21768966G> A null E K 95 95 missense 0.219 benign 0.77 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ExAC,gnomAD rs575458768 14q11.2 14 21768983A> T null R S 100 100 2.0E-4 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 TOPMed rs1271866689 14q11.2 14 21768985T> A null L Q 101 101 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1320382738 14q11.2 14 21769003C> T null T I 107 107 missense 0.43 benign 0.02 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs749315621 14q11.2 14 21769021T> G null L W 113 113 missense 0.538 possibly damaging 0.01 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1213744651 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21769026C> T null H Y 115 115 missense 0.029 benign 0.1 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4319670 14q11.2 14 21769029A> G null I V 116 116 0.00599 missense 0.801 possibly damaging 0.03 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs774373633 14q11.2 14 21769035G> C null A P 118 118 missense 0.587 possibly damaging 0.07 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs774373633 14q11.2 14 21769035G> A null A T 118 118 missense 0.646 possibly damaging 0.26 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ExAC,TOPMed,gnomAD rs554827432 14q11.2 14 21769038T> G null S A 119 119 2.0E-4 missense 0.421 benign 0.16 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1262183172 14q11.2 14 21769039C> T null S F 119 119 missense 0.82 possibly damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 1000Genomes,ExAC,TOPMed,gnomAD rs554827432 14q11.2 14 21769038T> C null S P 119 119 2.0E-4 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs776547884 14q11.2 14 21769045C> A null P H 121 121 missense 0.333 benign 0.02 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs768289614 14q11.2 14 21769044C> T null P S 121 121 missense 0.341 benign 0.05 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1422804143 14q11.2 14 21769048C> T null A V 122 122 missense 0.43 benign 0.01 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,TOPMed,gnomAD rs761764998 14q11.2 14 21769050G> T null D Y 123 123 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC rs765249735 14q11.2 14 21769057C> T null A V 125 125 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs750395512 14q11.2 14 21769065C> T null L F 128 128 missense 0.043 benign 1.0 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ExAC,gnomAD rs750395512 14q11.2 14 21769065C> G null L V 128 128 missense 0.236 benign 0.01 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 ESP,gnomAD rs375093430 14q11.2 14 21769068T> A null C S 129 129 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1457608334 14q11.2 14 21769075T> C null L P 131 131 missense 0.04 benign 0.12 tolerated 0 A0A075B6T7 TRAV6 T cell receptor alpha variable 6 gnomAD rs1289602171 14q11.2 14 21769077G> A null D N 132 132 missense 0.523 possibly damaging 0.07 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 Ensembl rs889990980 14q11.2 14 21811506A> G null N S 2 2 missense 0.021 benign 0.64 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 1000Genomes,ExAC,TOPMed,gnomAD rs567849368 14q11.2 14 21811509C> G null S C 3 3 2.0E-4 missense 0.012 benign 0.3 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 1000Genomes,ExAC,TOPMed,gnomAD rs567849368 14q11.2 14 21811509C> T null S F 3 3 2.0E-4 missense 0.012 benign 0.28 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 1000Genomes,ExAC,TOPMed,gnomAD rs567849368 14q11.2 14 21811509C> A null S Y 3 3 2.0E-4 missense 0.02 benign 0.28 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs764606446 14q11.2 14 21811511T> C null S P 4 4 missense 0.076 benign 0.04 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35761773 14q11.2 14 21811515C> T null P L 5 5 0.05431 missense 0.227 benign 0.12 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed rs1337863606 14q11.2 14 21811514C> T null P S 5 5 missense 0.606 possibly damaging 0.16 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1248182438 14q11.2 14 21811517G> T null G * 6 6 stop gained 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ESP,ExAC,TOPMed,gnomAD rs377566339 14q11.2 14 21811520C> T null P S 7 7 missense 0.0 benign 0.53 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ESP,ExAC,TOPMed,gnomAD rs377566339 14q11.2 14 21811520C> A null P T 7 7 missense 0.01 benign 0.39 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ESP,ExAC,TOPMed,gnomAD rs369552524 14q11.2 14 21811524C> T null A V 8 8 missense 0.0 benign 1.0 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1479537263 14q11.2 14 21811526A> G null I V 9 9 missense 0.014 benign 1.0 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373714310 14q11.2 14 21811530C> A null A E 10 10 2.0E-4 missense 0.429 benign 0.01 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs780479271 14q11.2 14 21811532C> G null L V 11 11 missense 0.031 benign 0.27 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs747916161 14q11.2 14 21811535T> C null F L 12 12 missense 0.001 benign 1.0 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1387676744 14q11.2 14 21811543G> A null M I 14 14 missense 0.006 benign 1.0 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs769479094 14q11.2 14 21811541A> G null M V 14 14 missense 0.006 benign 0.46 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs773159558 14q11.2 14 21811544T> C null F L 15 15 missense 0.005 benign 1.0 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs749148163 14q11.2 14 21811686G> A null G E 16 16 missense 0.455 possibly damaging 0.11 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed rs1325407256 14q11.2 14 21811689G> T null G V 17 17 missense 0.464 possibly damaging 0.27 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75564916 14q11.2 14 21811697G> A null G R 20 20 0.01178 missense 0.943 probably damaging 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs771577826 14q11.2 14 21811712C> T null Q * 25 25 stop gained 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs760271045 14q11.2 14 21811715A> G null T A 26 26 missense 0.567 possibly damaging 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs768407827 14q11.2 14 21811716C> A null T K 26 26 missense 0.145 benign 0.05 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs768407827 14q11.2 14 21811716C> G null T R 26 26 missense 0.137 benign 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed rs1197560134 14q11.2 14 21811720A> T null E D 27 27 missense 0.061 benign 0.07 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs776851786 14q11.2 14 21811724C> A null Q K 29 29 missense 0.119 benign 0.64 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs779649717 14q11.2 14 21811725A> C null Q P 29 29 missense 0.031 benign 0.54 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed rs1224417099 14q11.2 14 21811727G> A null V M 30 30 missense 0.51 possibly damaging 0.08 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 Ensembl rs1566697184 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21811734C> T null P L 32 32 missense 0.0 benign 1.0 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1347462703 14q11.2 14 21811737C> T null S F 33 33 missense 0.048 benign 0.1 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs933975491 14q11.2 14 21811743G> A null G E 35 35 missense 0.019 benign 0.32 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,NCI-TCGA,gnomAD rs750967351 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21811749C> T null S F 37 37 missense 0.007 benign 0.39 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 Ensembl rs889888447 14q11.2 14 21811752T> G null L R 38 38 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs763085074 14q11.2 14 21811755T> A null I N 39 39 missense 0.003 benign 0.03 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ESP,ExAC,TOPMed,gnomAD rs375065279 14q11.2 14 21811762C> A null N K 41 41 missense 0.455 possibly damaging 0.01 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs766390703 14q11.2 14 21811761A> G null N S 41 41 missense 0.847 possibly damaging 0.04 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs755124113 14q11.2 14 21811763T> G null C G 42 42 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs376049065 14q11.2 14 21811770A> G null Y C 44 44 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1318668728 14q11.2 14 21811772G> A null E K 45 45 missense 0.021 benign 0.32 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs753562927 14q11.2 14 21811776C> T null T I 46 46 missense 0.033 benign 0.13 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs757058799 14q11.2 14 21811778A> G null T A 47 47 missense 0.042 benign 0.11 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1241492612 14q11.2 14 21811787C> A null P T 50 50 missense 0.762 possibly damaging 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 1000Genomes,ExAC,gnomAD rs189975437 14q11.2 14 21811796T> A null F I 53 53 2.0E-4 missense 0.722 possibly damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34904980 14q11.2 14 21811803A> T null Y F 55 55 0.03654 missense 0.863 possibly damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs771524751 14q11.2 14 21811808C> T null Q * 57 57 stop gained 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 Ensembl rs1025844052 14q11.2 14 21811812A> G null Y C 58 58 missense 0.343 benign 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1344114127 14q11.2 14 21811815C> G null P R 59 59 missense 0.988 probably damaging 0.11 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1380104045 14q11.2 14 21811818G> A null G E 60 60 missense 0.5 possibly damaging 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs746573660 14q11.2 14 21811817G> A null G R 60 60 missense 0.397 benign 0.12 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed rs1439409646 14q11.2 14 21811820G> T null E * 61 61 stop gained 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs776356551 14q11.2 14 21811824G> A null G D 62 62 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 Ensembl rs1002932848 14q11.2 14 21811823G> C null G R 62 62 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs748453723 14q11.2 14 21811829C> G null Q E 64 64 missense 0.076 benign 0.09 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs770311900 14q11.2 14 21811831G> T null Q H 64 64 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs773804777 14q11.2 14 21811832C> T null L F 65 65 missense 0.397 benign 0.06 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed rs1403694510 14q11.2 14 21811836A> T null H L 66 66 missense 0.0 benign 1.0 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 Ensembl rs775951593 14q11.2 14 21811837C> A null H Q 66 66 missense 0.001 benign 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed rs1466945262 14q11.2 14 21811835C> T null H Y 66 66 missense 0.0 benign 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs763530614 14q11.2 14 21811841A> G null K E 68 68 missense 0.85 possibly damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1461050399 14q11.2 14 21811845C> T null A V 69 69 missense 0.175 benign 0.22 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 1000Genomes rs528311038 14q11.2 14 21811847A> T null M L 70 70 2.0E-4 missense 0.003 benign 0.9 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ESP,ExAC,TOPMed,gnomAD rs371878293 14q11.2 14 21811848T> C null M T 70 70 missense 0.001 benign 0.87 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs774291528 14q11.2 14 21811853G> T null A S 72 72 missense 0.28 benign 0.54 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs774291528 14q11.2 14 21811853G> A null A T 72 72 missense 0.076 benign 0.42 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1468880448 14q11.2 14 21811857A> G null N S 73 73 missense 0.127 benign 0.08 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 1000Genomes,ExAC,TOPMed,gnomAD rs545490990 14q11.2 14 21811863A> C null K T 75 75 2.0E-4 missense 0.88 possibly damaging 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs752923560 14q11.2 14 21811871A> G null N D 78 78 missense 0.044 benign 0.09 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1177983361 14q11.2 14 21811872A> T null N I 78 78 missense 0.806 possibly damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1177983361 14q11.2 14 21811872A> C null N T 78 78 missense 0.464 possibly damaging 0.01 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs752923560 14q11.2 14 21811871A> T null N Y 78 78 missense 0.07 benign 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs757009504 14q11.2 14 21811887C> A null A D 83 83 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed rs1312352776 14q11.2 14 21811891G> A null M I 84 84 missense 0.0 benign 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ESP,ExAC,TOPMed,gnomAD rs367671104 14q11.2 14 21811890T> C null M T 84 84 missense 0.0 benign 1.0 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ESP,ExAC,TOPMed,gnomAD rs376961720 14q11.2 14 21811889A> G null M V 84 84 missense 0.01 benign 0.01 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1278952703 14q11.2 14 21811894C> A null Y * 85 85 stop gained 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ESP,ExAC,TOPMed,gnomAD rs371900416 14q11.2 14 21811893A> G null Y C 85 85 missense 0.977 probably damaging 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200945776 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21811895C> T null R C 86 86 missense 0.007 benign 0.2 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114385047 14q11.2 14 21811896G> A null R H 86 86 0.01138 missense 0.003 benign 0.61 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 Ensembl rs1566697408 14q11.2 14 21811898A> G null K E 87 87 missense 0.076 benign 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed rs1309858133 14q11.2 14 21811899A> C null K T 87 87 missense 0.045 benign 0.09 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs780665960 14q11.2 14 21811907A> G null T A 90 90 missense 0.074 benign 0.07 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs769617356 14q11.2 14 21811917A> G null H R 93 93 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ESP,TOPMed,gnomAD rs369543109 14q11.2 14 21811926A> G null K R 96 96 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs747796061 14q11.2 14 21811932C> G null S * 98 98 stop gained 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1479809516 14q11.2 14 21811937C> A null Q K 100 100 missense 0.119 benign 0.03 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs774936315 14q11.2 14 21811938A> T null Q L 100 100 missense 0.045 benign 0.02 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed,gnomAD rs1421197257 14q11.2 14 21811942G> C null E D 101 101 missense 0.07 benign 0.57 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs775643450 14q11.2 14 21811947A> G null D G 103 103 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs759469513 14q11.2 14 21811946G> C null D H 103 103 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs759469513 14q11.2 14 21811946G> T null D Y 103 103 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs760868181 14q11.2 14 21811950C> G null S C 104 104 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs760868181 14q11.2 14 21811950C> T null S F 104 104 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs771342878 14q11.2 14 21811952G> A null A T 105 105 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed,gnomAD rs1345022001 14q11.2 14 21811956T> C null V A 106 106 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed rs1238793397 14q11.2 14 21811959A> G null Y C 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs776804218 14q11.2 14 21811962T> G null F C 108 108 missense 0.837 possibly damaging 0.01 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 gnomAD rs1272218739 14q11.2 14 21811961T> G null F V 108 108 missense 0.155 benign 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,TOPMed,gnomAD rs776804218 14q11.2 14 21811962T> A null F Y 108 108 missense 0.0 benign 1.0 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ESP,ExAC,TOPMed,gnomAD rs372831634 14q11.2 14 21811968C> T null A V 110 110 missense 0.545 possibly damaging 0.12 tolerated 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 TOPMed rs1286183443 14q11.2 14 21811973A> G null S G 112 112 missense 0.883 possibly damaging 0.0 deleterious 0 A0A075B6T8 TRAV9-1 T cell receptor alpha variable 9-1 ExAC,gnomAD rs754395280 14q11.2 14 21811974G> A null S N 112 112 missense 0.212 benign 0.13 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1019065771 12q24.33 12 133182001G> A null A T 2 2 missense 0.024 benign 0.0 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs964414031 12q24.33 12 133182002C> T null A V 2 2 missense 0.225 benign 0.0 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1176123942 12q24.33 12 133182004A> C null T P 3 3 missense 0.103 benign 0.01 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 1000Genomes,ExAC,TOPMed,gnomAD rs572005987 12q24.33 12 133182008G> C null R T 4 4 2.0E-4 missense 0.076 benign 0.0 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs778401519 12q24.33 12 133182010G> A null V I 5 5 missense 0.007 benign 0.26 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs1186570619 12q24.33 12 133182014G> T null R L 6 6 missense 0.972 probably damaging 0.01 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC rs747885308 12q24.33 12 133182016A> G null T A 7 7 missense 0.2 benign 0.12 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1161232509 12q24.33 12 133182020C> G null A G 8 8 missense 0.012 benign 0.03 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1424987197 12q24.33 12 133182023C> G null S C 9 9 missense 0.258 benign 0.0 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1424987197 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 12q24.33 12 133182023C> T null S F 9 9 missense 0.146 benign 0.0 deleterious - low confidence 1 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs944594486 12q24.33 12 133182025A> T null I F 10 10 missense 0.052 benign 0.12 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 1000Genomes,ExAC,TOPMed,gnomAD rs201717119 12q24.33 12 133182026T> C null I T 10 10 2.0E-4 missense 0.011 benign 0.02 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs944594486 12q24.33 12 133182025A> G null I V 10 10 missense 0.0 benign 0.42 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1489781190 12q24.33 12 133187875C> G null P A 13 13 missense 0.336 benign 0.02 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs763033102 12q24.33 12 133187879C> A null P H 14 14 missense 0.579 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200829573 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung pubmed:23033341,cosmic_study:456 12q24.33 12 133187878C> T null P S 14 14 missense 0.009 benign 0.08 tolerated - low confidence 1 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs764286406 12q24.33 12 133187881C> T null L F 15 15 missense 0.863 possibly damaging 0.1 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 Ensembl rs1566366059 12q24.33 12 133187882T> A null L H 15 15 missense 0.894 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 1000Genomes,ExAC,TOPMed,gnomAD rs192475887 12q24.33 12 133187890C> T null R * 18 18 3.99E-4 stop gained 0 A0A075B6T9 ZNF268 Zinc finger protein 268 1000Genomes,ExAC,TOPMed,gnomAD rs184707939 12q24.33 12 133187891G> A null R Q 18 18 5.99E-4 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs1157197394 12q24.33 12 133187896A> G null S G 20 20 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1159421117 12q24.33 12 133187897G> A null S N 20 20 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1159421117 12q24.33 12 133187897G> C null S T 20 20 missense 0.018 benign 0.3 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs753599725 12q24.33 12 133187900C> G null S * 21 21 stop gained 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs753599725 12q24.33 12 133187900C> T null S L 21 21 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1303092616 12q24.33 12 133187913C> G null I M 25 25 missense 0.11 benign 0.02 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1392080286 12q24.33 12 133187918A> G null K R 27 27 missense 0.027 benign 0.14 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1020948704 12q24.33 12 133187929C> T null Q * 31 31 stop gained 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs754907569 12q24.33 12 133187930A> G null Q R 31 31 missense 0.018 benign 0.13 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs374515405 12q24.33 12 133187936C> G null S C 33 33 missense 0.017 benign 0.09 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs374515405 12q24.33 12 133187936C> T null S F 33 33 missense 0.003 benign 0.14 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs765093381 12q24.33 12 133187938A> G null I V 34 34 missense 0.0 benign 0.24 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1357030506 12q24.33 12 133187943G> C null L F 35 35 missense 0.224 benign 0.06 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1310914842 12q24.33 12 133187941T> A null L M 35 35 missense 0.282 benign 0.02 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1244961125 12q24.33 12 133187945G> C null G A 36 36 missense 0.451 possibly damaging 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1244961125 12q24.33 12 133187945G> A null G D 36 36 missense 0.03 benign 0.07 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 Ensembl rs868627980 12q24.33 12 133187956C> T null P S 40 40 missense 0.011 benign 0.11 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs758044324 12q24.33 12 133187960G> T null G V 41 41 missense 0.0 benign 0.08 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs777533088 12q24.33 12 133187962C> A null L M 42 42 missense 0.146 benign 0.22 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ESP,ExAC,TOPMed,gnomAD rs368431643 12q24.33 12 133187967A> T null Q H 43 43 missense 0.066 benign 0.01 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1179499529 12q24.33 12 133187969C> T null P L 44 44 missense 0.0 benign 0.17 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1443228969 12q24.33 12 133187980A> G null T A 48 48 missense 0.0 benign 0.92 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1319354707 12q24.33 12 133187981C> T null T I 48 48 missense 0.005 benign 0.21 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1459918998 12q24.33 12 133188003T> G null S R 55 55 missense 0.001 benign 0.17 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,NCI-TCGA,TOPMed,gnomAD rs781577602 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.33 12 133188004C> T null R C 56 56 missense 0.092 benign 0.13 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs189573508 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q24.33 12 133188005G> A null R H 56 56 2.0E-4 missense 0.0 benign 0.73 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 1000Genomes,gnomAD rs567779562 12q24.33 12 133188008G> A null R K 57 57 3.99E-4 missense 0.0 benign 0.39 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 Ensembl rs1000878073 12q24.33 12 133188016A> G null K E 60 60 missense 0.017 benign 0.06 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs558911402 12q24.33 12 133188018A> T null K N 60 60 missense 0.041 benign 0.03 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1380122349 12q24.33 12 133188019G> A null V I 61 61 missense 0.0 benign 0.18 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 1000Genomes,ExAC,gnomAD rs550498978 12q24.33 12 133188032T> A null L Q 65 65 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs774536822 12q24.33 12 133188034T> G null F V 66 66 missense 0.018 benign 0.13 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs761976024 12q24.33 12 133188037A> T null I F 67 67 missense 0.089 benign 0.01 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs772218000 12q24.33 12 133188041C> T null S F 68 68 missense 0.0 benign 0.38 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 Ensembl rs867329836 12q24.33 12 133188043C> A null Q K 69 69 missense 0.039 benign 0.03 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1425860490 12q24.33 12 133188050A> T null Q L 71 71 missense 0.127 benign 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1191686630 12q24.33 12 133188058A> G null I V 74 74 missense 0.003 benign 0.15 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs773367974 12q24.33 12 133191493C> T null P L 80 80 missense 0.003 benign 0.4 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ESP,ExAC,TOPMed,gnomAD rs376536420 12q24.33 12 133191497G> C null L F 81 81 missense 0.104 benign 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs775444456 12q24.33 12 133191505T> C null M T 84 84 missense 0.0 benign 0.44 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1218711091 12q24.33 12 133191504A> G null M V 84 84 missense 0.0 benign 0.27 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1314136871 12q24.33 12 133191507G> A null D N 85 85 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1036357480 12q24.33 12 133191510G> T null V L 86 86 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1036357480 12q24.33 12 133191510G> A null V M 86 86 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs762940454 12q24.33 12 133191522T> C null F L 90 90 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1488796590 12q24.33 12 133191525A> G null T A 91 91 missense 0.69 possibly damaging 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs542127842 12q24.33 12 133191526C> T null T I 91 91 missense 0.979 probably damaging 0.04 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ESP,ExAC,TOPMed,gnomAD rs373431618 12q24.33 12 133191529G> C null W S 92 92 missense 0.604 possibly damaging 0.03 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 1000Genomes,ExAC,gnomAD rs552261400 12q24.33 12 133191535A> T null E V 94 94 2.0E-4 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs913294163 12q24.33 12 133191544T> G null L R 97 97 missense 0.943 probably damaging 0.1 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs968796252 12q24.33 12 133191553C> T null P L 100 100 missense 0.121 benign 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs756479717 12q24.33 12 133191558C> T null Q * 102 102 stop gained 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1421229694 12q24.33 12 133191559A> G null Q R 102 102 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ESP,ExAC,TOPMed,gnomAD rs371122493 12q24.33 12 133191566C> G null C W 104 104 missense 0.382 benign 0.18 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1364887146 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 12q24.33 12 133191565G> A null C Y 104 104 missense 0.0 benign 1.0 tolerated 1 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs755413863 12q24.33 12 133191571A> G null Y C 106 106 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1222310271 12q24.33 12 133191574G> A null R K 107 107 missense 0.53 possibly damaging 0.06 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs779409454 12q24.33 12 133191580T> G null V G 109 109 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1242749958 12q24.33 12 133191584G> A null M I 110 110 missense 0.039 benign 0.05 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs748249725 12q24.33 12 133191583T> C null M T 110 110 missense 0.039 benign 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs778030214 12q24.33 12 133191589A> C null E A 112 112 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs778030214 12q24.33 12 133191589A> G null E G 112 112 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs1458785946 12q24.33 12 133191592A> G null N S 113 113 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1222891152 12q24.33 12 133191595A> G null Y C 114 114 missense 0.05 benign 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1176282007 12q24.33 12 133191610C> T null S F 119 119 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs765467080 12q24.33 12 133191908G> A null G E 121 121 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs753133690 12q24.33 12 133191911A> G null Y C 122 122 missense 0.67 possibly damaging 0.02 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 Ensembl rs1566370267 12q24.33 12 133191910T> C null Y H 122 122 missense 0.007 benign 0.1 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs866360705 12q24.33 12 133191916C> T null H Y 124 124 missense 0.0 benign 1.0 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1399968228 12q24.33 12 133191920C> T null T I 125 125 missense 0.083 benign 0.07 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1341847727 12q24.33 12 133191922A> C null K Q 126 126 missense 0.247 benign 0.04 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs764672650 12q24.33 12 133191929A> T null D V 128 128 missense 0.121 benign 0.01 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs763299735 12q24.33 12 133191928G> T null D Y 128 128 missense 0.01 benign 0.0 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ESP,ExAC,TOPMed,gnomAD rs201567388 12q24.33 12 133191932T> A null I N 129 129 missense 0.276 benign 0.07 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ESP,ExAC,TOPMed,gnomAD rs201567388 12q24.33 12 133191932T> C null I T 129 129 missense 0.027 benign 0.01 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 Ensembl rs1566370370 12q24.33 12 133191934A> G null I V 130 130 missense 0.048 benign 0.06 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs781532248 12q24.33 12 133191939C> G null F L 131 131 missense 0.0 benign 0.54 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs756427998 cosmic curated [Cosmic]: kidney pubmed:23797736,cosmic_study:494 12q24.33 12 133191941A> G null K R 132 132 missense 0.027 benign 0.23 tolerated 1 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs778532742 12q24.33 12 133191952G> A null G R 136 136 missense 0.457 possibly damaging 0.01 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs778532742 12q24.33 12 133191952G> C null G R 136 136 missense 0.457 possibly damaging 0.01 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs747981681 12q24.33 12 133191956A> G null E G 137 137 missense 0.829 possibly damaging 0.01 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1489351188 12q24.33 12 133191955G> A null E K 137 137 missense 0.587 possibly damaging 0.02 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs1239872544 12q24.33 12 133191964T> C null C R 140 140 missense 0.0 benign 0.12 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs771848342 12q24.33 12 133191966T> G null C W 140 140 missense 0.0 benign 1.0 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61960670 12q24.33 12 133191967A> T null M L 141 141 0.1442 missense 0.0 benign 0.05 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61960670 12q24.33 12 133191967A> G null M V 141 141 0.1442 missense 0.0 benign 0.36 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs770472078 12q24.33 12 133191979C> G null Q E 145 145 missense 0.003 benign 1.0 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ESP,ExAC,gnomAD rs374650886 12q24.33 12 133191982G> T null V F 146 146 missense 0.023 benign 0.53 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs974169274 12q24.33 12 133191986C> T null P L 147 147 missense 0.0 benign 0.43 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs759145106 12q24.33 12 133191985C> A null P T 147 147 missense 0.059 benign 0.19 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs775656638 12q24.33 12 133191989A> G null N S 148 148 missense 0.0 benign 1.0 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 Ensembl rs773885682 12q24.33 12 133191991C> G null Q E 149 149 missense 0.0 benign 0.02 deleterious 0 A0A075B6T9 ZNF268 Zinc finger protein 268 Ensembl rs1479572109 12q24.33 12 133191993G> T null Q H 149 149 missense 0.0 benign 0.08 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 Ensembl rs11147292 12q24.33 12 133192000C> T null P S 152 152 missense 0.003 benign 0.05 tolerated 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs1374807955 12q24.33 12 133193431T> A null L * 154 154 stop gained 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs1223843931 12q24.33 12 133193430T> G null L V 154 154 missense 0.0 unknown 0.25 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1390829855 12q24.33 12 133193444G> C null K N 158 158 missense 0.0 unknown 0.45 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1035655027 12q24.33 12 133193443A> G null K R 158 158 missense 0.0 unknown 0.52 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1387996729 12q24.33 12 133193454A> G null K E 162 162 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1328954179 12q24.33 12 133193455A> T null K M 162 162 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs1387996729 12q24.33 12 133193454A> C null K Q 162 162 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs780337637 12q24.33 12 133193467G> T null G V 166 166 missense 0.0 unknown 0.35 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs758282799 12q24.33 12 133193472G> T null V L 168 168 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,TOPMed,gnomAD rs758282799 12q24.33 12 133193472G> A null V M 168 168 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs959587166 12q24.33 12 133193476C> T null S F 169 169 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1243987924 12q24.33 12 133193479G> A null G D 170 170 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs1164337571 12q24.33 12 133193496G> A null A T 176 176 missense 0.0 unknown 0.39 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 ExAC,gnomAD rs747001045 12q24.33 12 133193500C> T null S F 177 177 missense 0.0 unknown 0.2 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 gnomAD rs1256441156 12q24.33 12 133193505A> G null M V 179 179 missense 0.0 unknown 0.05 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed,gnomAD rs919518099 12q24.33 12 133193509C> T null T M 180 180 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs983158568 12q24.33 12 133193511C> T null P S 181 181 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs907544281 12q24.33 12 133193515G> A null C Y 182 182 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs984975655 12q24.33 12 133193523A> G null I V 185 185 missense 0.0 unknown 0.49 tolerated - low confidence 0 A0A075B6T9 ZNF268 Zinc finger protein 268 TOPMed rs1318690797 12q24.33 12 133193533G> T null R I 188 188 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ExAC,gnomAD rs560790103 14q11.2 14 21782997A> C null E A 2 2 2.0E-4 missense 0.943 probably damaging 0.06 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ExAC,gnomAD rs542420898 14q11.2 14 21782996G> C null E Q 2 2 2.0E-4 missense 0.964 probably damaging 0.03 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs190351374 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21783006G> A null R Q 5 5 2.0E-4 missense 0.007 benign 0.12 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143231043 14q11.2 14 21783005C> T null R W 5 5 3.99E-4 missense 0.725 possibly damaging 0.05 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ExAC,TOPMed,gnomAD rs560173037 14q11.2 14 21783024T> C null I T 11 11 2.0E-4 missense 0.936 probably damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,TOPMed,gnomAD rs772288682 14q11.2 14 21783031T> G null C W 13 13 missense 0.0 benign 1.0 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,TOPMed,gnomAD rs775868124 14q11.2 14 21783035T> A null C S 15 15 missense 0.0 benign 0.01 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs961144706 14q11.2 14 21783219G> T null W L 18 18 missense 0.173 benign 0.05 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ExAC,NCI-TCGA,gnomAD rs562774351 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21783230G> A null E K 22 22 3.99E-4 missense 0.269 benign 0.01 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs758509026 14q11.2 14 21783236C> A null Q K 24 24 missense 0.007 benign 0.38 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,TOPMed,gnomAD rs767549240 14q11.2 14 21783240T> C null V A 25 25 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,TOPMed,gnomAD rs767549240 14q11.2 14 21783240T> A null V E 25 25 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,TOPMed,gnomAD rs757779897 14q11.2 14 21783239G> A null V M 25 25 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs1198055273 14q11.2 14 21783242G> T null E * 26 26 stop gained 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs1198055273 14q11.2 14 21783242G> A null E K 26 26 missense 0.545 possibly damaging 0.71 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,TOPMed,gnomAD rs755218636 14q11.2 14 21783245C> A null H N 27 27 missense 0.001 benign 0.01 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs997618471 14q11.2 14 21783251C> G null P A 29 29 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ESP,ExAC,TOPMed,gnomAD rs374889514 14q11.2 14 21783252C> T null P L 29 29 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,TOPMed,gnomAD rs775690436 14q11.2 14 21783254C> T null H Y 30 30 missense 0.001 benign 0.08 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs1196499582 14q11.2 14 21783264G> C null G A 33 33 missense 0.001 benign 0.67 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed rs946727967 14q11.2 14 21783267C> T null P L 34 34 missense 0.006 benign 0.27 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs1366599527 14q11.2 14 21783271G> T null Q H 35 35 missense 0.046 benign 0.03 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs774278540 14q11.2 14 21783270A> G null Q R 35 35 missense 0.076 benign 0.14 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35794995 14q11.2 14 21783272C> A null Q K 36 36 2.0E-4 missense 0.0 benign 0.08 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1169332855 14q11.2 14 21783279A> G null D G 38 38 missense 0.092 benign 0.47 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs1406751438 14q11.2 14 21783281G> A null V I 39 39 missense 0.0 benign 0.28 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs774964035 14q11.2 14 21783284G> T null A S 40 40 missense 0.023 benign 1.0 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs774964035 14q11.2 14 21783284G> A null A T 40 40 missense 0.006 benign 0.56 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs763801053 14q11.2 14 21783285C> T null A V 40 40 missense 0.006 benign 0.18 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ESP,ExAC rs374300893 14q11.2 14 21783288C> T null S F 41 41 missense 0.031 benign 0.47 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34538191 14q11.2 14 21783287T> C null S P 41 41 0.008387 missense 0.711 possibly damaging 0.16 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs750908213 14q11.2 14 21783290A> G null M V 42 42 missense 0.107 benign 0.04 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,TOPMed,gnomAD rs758950556 14q11.2 14 21783297G> A null C Y 44 44 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1266124942 14q11.2 14 21783299A> G null T A 45 45 missense 0.321 benign 0.08 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138473186 14q11.2 14 21783300C> A null T K 45 45 0.007188 missense 0.103 benign 0.01 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138473186 14q11.2 14 21783300C> T null T M 45 45 0.007188 missense 0.93 probably damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs1296599594 14q11.2 14 21783309T> C null V A 48 48 missense 0.094 benign 0.53 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed rs1414791428 14q11.2 14 21783311A> G null S G 49 49 missense 0.285 benign 0.04 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs1208321368 14q11.2 14 21783314C> T null R C 50 50 missense 0.061 benign 0.05 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ExAC,TOPMed,gnomAD rs547527061 14q11.2 14 21783315G> A null R H 50 50 2.0E-4 missense 0.021 benign 0.15 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed rs1438080115 14q11.2 14 21783328G> T null L F 54 54 missense 0.984 probably damaging 1.0 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs781418353 14q11.2 14 21783337C> G null Y * 57 57 stop gained 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs748324505 14q11.2 14 21783350G> A null G R 62 62 missense 0.628 possibly damaging 0.02 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs748324505 14q11.2 14 21783350G> T null G W 62 62 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1188782609 14q11.2 14 21783353A> T null M L 63 63 missense 0.0 benign 0.04 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs745715993 14q11.2 14 21783357G> A null G D 64 64 missense 0.474 possibly damaging 0.04 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs778595929 14q11.2 14 21783356G> A null G S 64 64 missense 0.288 benign 0.05 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186559550 14q11.2 14 21783366A> T null H L 67 67 3.99E-4 missense 0.006 benign 1.0 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186559550 14q11.2 14 21783366A> G null H R 67 67 3.99E-4 missense 0.439 benign 0.11 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1354002319 14q11.2 14 21783372T> C null L S 69 69 missense 0.368 benign 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ExAC,gnomAD rs556402224 14q11.2 14 21783374T> C null S P 70 70 2.0E-4 missense 0.868 possibly damaging 0.24 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1358329031 14q11.2 14 21783378T> C null M T 71 71 missense 0.439 benign 0.04 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs775197131 14q11.2 14 21783381du p null Y * 72 72 stop gained 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed rs1210084170 14q11.2 14 21783384C> T null S L 73 73 missense 0.271 benign 0.08 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1342369948 14q11.2 14 21783390G> C null G A 75 75 missense 0.986 probably damaging 0.71 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1342369948 14q11.2 14 21783390G> T null G V 75 75 missense 0.997 probably damaging 0.4 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ESP,ExAC,gnomAD rs368618347 14q11.2 14 21783396A> G null E G 77 77 missense 0.137 benign 0.16 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs769533964 14q11.2 14 21783395G> A null E K 77 77 missense 0.751 possibly damaging 0.76 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes rs190334942 14q11.2 14 21783401C> A null Q K 79 79 missense 0.034 benign 0.24 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1354674864 14q11.2 14 21783402A> T null Q L 79 79 missense 0.04 benign 0.04 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ESP,TOPMed rs370471338 14q11.2 14 21783406A> C null K N 80 80 missense 0.149 benign 0.19 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs1242837933 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21783408G> A null G E 81 81 missense 0.774 possibly damaging 0.24 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs1284339906 14q11.2 14 21783410A> G null R G 82 82 missense 0.611 possibly damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 Ensembl rs754868289 14q11.2 14 21783417A> C null N T 84 84 missense 0.0 benign 0.76 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs763475595 14q11.2 14 21783420C> T null A V 85 85 missense 0.561 possibly damaging 0.88 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 Ensembl rs748622121 14q11.2 14 21783422A> G null T A 86 86 missense 0.889 possibly damaging 0.84 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed rs945314512 14q11.2 14 21783423C> G null T R 86 86 missense 0.965 probably damaging 0.58 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed,gnomAD rs1258810845 14q11.2 14 21783427A> T null L F 87 87 missense 0.947 probably damaging 0.3 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,TOPMed,gnomAD rs752127142 14q11.2 14 21783429T> C null L P 88 88 missense 0.69 possibly damaging 0.14 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1224624490 14q11.2 14 21783442C> G null S R 92 92 missense 0.922 probably damaging 0.18 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs759595942 14q11.2 14 21783444G> A null S N 93 93 missense 0.95 probably damaging 0.02 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1160013594 14q11.2 14 21783448G> T null L F 94 94 missense 0.865 possibly damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1378290125 14q11.2 14 21783452A> G null I V 96 96 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181086656 14q11.2 14 21783456C> T null T I 97 97 0.001398 missense 0.297 benign 0.16 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181086656 14q11.2 14 21783456C> A null T K 97 97 0.001398 missense 0.093 benign 0.49 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ESP,ExAC,TOPMed,gnomAD rs371821488 14q11.2 14 21783459C> T null A V 98 98 missense 0.624 possibly damaging 0.22 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 TOPMed rs1420928923 14q11.2 14 21783462T> C null V A 99 99 missense 0.003 benign 0.34 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34078918 14q11.2 14 21783461G> T null V L 99 99 0.01078 missense 0.003 benign 0.22 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34078918 14q11.2 14 21783461G> C null V L 99 99 0.01078 missense 0.003 benign 0.22 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34078918 14q11.2 14 21783461G> A null V M 99 99 0.01078 missense 0.407 benign 0.04 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1377662373 14q11.2 14 21783464C> T null Q * 100 100 stop gained 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs779896131 14q11.2 14 21783465A> G null Q R 100 100 missense 0.337 benign 0.01 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs770592757 14q11.2 14 21783467C> G null P A 101 101 missense 0.765 possibly damaging 0.05 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs770592757 14q11.2 14 21783467C> T null P S 101 101 missense 0.791 possibly damaging 0.08 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,gnomAD rs768160102 14q11.2 14 21783470G> A null E K 102 102 missense 0.647 possibly damaging 0.37 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1258357714 14q11.2 14 21783477C> T null S L 104 104 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 1000Genomes,ExAC,gnomAD rs185368487 14q11.2 14 21783482A> C null T P 106 106 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1241994843 14q11.2 14 21783486A> G null Y C 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ESP,ExAC,TOPMed,gnomAD rs372311459 14q11.2 14 21783485T> C null Y H 107 107 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 ExAC,TOPMed,gnomAD rs769327678 14q11.2 14 21783491T> C null C R 109 109 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1180152063 14q11.2 14 21783497G> A null V I 111 111 missense 0.671 possibly damaging 0.14 tolerated 0 A0A075B6U4 TRAV7 T cell receptor alpha variable 7 gnomAD rs1418330522 14q11.2 14 21783501A> G null D G 112 112 missense 0.611 possibly damaging 0.01 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs1484157490 14q11.2 14 22132557T> C null L P 2 2 missense 0.852 possibly damaging 0.08 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs763660992 14q11.2 14 22132560T> A null L * 3 3 stop gained 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs763660992 14q11.2 14 22132560T> C null L S 3 3 missense 0.076 benign 0.24 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs776307560 14q11.2 14 22132563T> G null V G 4 4 missense 0.03 benign 0.05 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs761501566 14q11.2 14 22132566T> C null V A 5 5 missense 0.006 benign 0.15 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs758843746 14q11.2 14 22132585G> A null M I 11 11 missense 0.009 benign 0.6 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs766761068 14q11.2 14 22132586T> C null F L 12 12 missense 0.0 benign 1.0 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs752018269 14q11.2 14 22132587T> C null F S 12 12 missense 0.023 benign 0.22 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1173175923 14q11.2 14 22132593C> T null T I 14 14 missense 0.034 benign 0.46 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC rs781190718 14q11.2 14 22132598A> G null S G 16 16 missense 0.003 benign 0.16 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1304176603 14q11.2 14 22132601A> G null K E 17 17 missense 0.001 benign 0.25 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1218017741 14q11.2 14 22132746C> T null T I 18 18 missense 0.129 benign 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1218017741 14q11.2 14 22132746C> A null T N 18 18 missense 0.129 benign 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs777828209 14q11.2 14 22132749A> G null Q R 19 19 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs754053403 14q11.2 14 22132752C> A null S * 20 20 stop gained 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs754053403 14q11.2 14 22132752C> T null S L 20 20 missense 0.34 benign 0.04 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1376222293 14q11.2 14 22132754G> A null V M 21 21 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs746807912 14q11.2 14 22132760C> T null Q * 23 23 stop gained 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs768713176 14q11.2 14 22132761A> G null Q R 23 23 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs781325438 14q11.2 14 22132764T> C null L P 24 24 missense 0.001 benign 1.0 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs924939252 14q11.2 14 22132767A> C null D A 25 25 missense 0.908 possibly damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1400953344 14q11.2 14 22132766G> C null D H 25 25 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs1276303462 14q11.2 14 22132770G> C null G A 26 26 missense 0.006 benign 0.79 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs956433007 14q11.2 14 22132779C> G null T S 29 29 missense 0.035 benign 0.34 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs1370003971 14q11.2 14 22132789A> T null E D 32 32 missense 0.664 possibly damaging 0.01 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs769303097 14q11.2 14 22132791A> T null E V 33 33 missense 0.145 benign 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs772617485 14q11.2 14 22132794C> A null A D 34 34 missense 0.007 benign 0.44 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs772617485 14q11.2 14 22132794C> T null A V 34 34 missense 0.051 benign 0.12 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1242302212 14q11.2 14 22132796C> G null P A 35 35 missense 0.031 benign 0.21 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs142738907 14q11.2 14 22132797C> T null P L 35 35 5.99E-4 missense 0.03 benign 0.34 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs142738907 14q11.2 14 22132797C> G null P R 35 35 5.99E-4 missense 0.044 benign 0.19 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1230496740 14q11.2 14 22132811T> C null C R 40 40 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs1158459986 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22132815A> G null N S 41 41 missense 0.172 benign 0.19 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed rs759950526 14q11.2 14 22132818A> G null Y C 42 42 missense 0.5 possibly damaging 0.01 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs774692274 14q11.2 14 22132817T> A null Y N 42 42 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ESP,ExAC,TOPMed,gnomAD rs376612923 14q11.2 14 22132824A> G null Y C 44 44 missense 0.92 probably damaging 0.09 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1204453499 14q11.2 14 22132823T> C null Y H 44 44 missense 0.886 possibly damaging 0.28 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1187222487 14q11.2 14 22132830G> A null G E 46 46 missense 0.735 possibly damaging 0.1 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1364769425 14q11.2 14 22132832G> C null V L 47 47 missense 0.0 benign 0.51 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs761118491 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22132839C> T null S F 49 49 missense 0.02 benign 0.47 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs761118491 14q11.2 14 22132839C> A null S Y 49 49 missense 0.001 benign 1.0 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs926834544 14q11.2 14 22132841C> T null L F 50 50 missense 0.879 possibly damaging 0.02 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs926834544 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22132841C> G null L V 50 50 missense 0.774 possibly damaging 0.01 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) Ensembl rs886834468 14q11.2 14 22132849G> T null W C 52 52 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs764185371 14q11.2 14 22132854T> C null V A 54 54 missense 0.594 possibly damaging 0.01 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs757490117 14q11.2 14 22132859T> C null Y H 56 56 missense 0.166 benign 0.07 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1394246365 14q11.2 14 22132866G> T null S I 58 58 missense 0.792 possibly damaging 0.01 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1394246365 14q11.2 14 22132866G> A null S N 58 58 missense 0.005 benign 1.0 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs779347300 14q11.2 14 22132872G> T null S I 60 60 missense 0.699 possibly damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs779347300 14q11.2 14 22132872G> A null S N 60 60 missense 0.013 benign 0.03 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1280501990 14q11.2 14 22132874C> T null L F 61 61 missense 0.537 possibly damaging 0.09 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1286669496 14q11.2 14 22132877C> T null Q * 62 62 stop gained 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs373097551 14q11.2 14 22132879G> T null Q H 62 62 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs373097551 14q11.2 14 22132879G> C null Q H 62 62 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs1280253233 14q11.2 14 22132878A> G null Q R 62 62 missense 0.231 benign 0.02 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs550837910 14q11.2 14 22132883C> A null L I 64 64 missense 0.774 possibly damaging 0.03 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs1437082671 14q11.2 14 22132886C> T null L F 65 65 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs781161083 14q11.2 14 22132887T> G null L R 65 65 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs748065854 14q11.2 14 22132891A> T null K N 66 66 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) Ensembl rs868356761 14q11.2 14 22132892G> A null D N 67 67 missense 0.021 benign 0.09 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs1288256008 14q11.2 14 22132895C> A null L I 68 68 missense 0.006 benign 1.0 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1251612816 14q11.2 14 22132898A> G null T A 69 69 missense 0.009 benign 0.08 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1484232059 14q11.2 14 22132899C> T null T I 69 69 missense 0.191 benign 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3811291 14q11.2 14 22132901A> G null K E 70 70 0.3976 missense 0.005 benign 0.06 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs1174435399 14q11.2 14 22132905C> T null A V 71 71 missense 0.143 benign 0.08 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs993513755 14q11.2 14 22132908C> T null T I 72 72 missense 0.458 possibly damaging 0.04 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) Ensembl rs866045066 14q11.2 14 22132910C> T null Q * 73 73 stop gained 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs748814653 14q11.2 14 22132912G> T null Q H 73 73 missense 0.271 benign 0.13 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs774040809 14q11.2 14 22132920G> C null G A 76 76 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs774040809 14q11.2 14 22132920G> A null G D 76 76 missense 0.664 possibly damaging 0.01 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC rs759864806 14q11.2 14 22132922A> T null I F 77 77 missense 0.07 benign 0.22 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC rs759864806 14q11.2 14 22132922A> C null I L 77 77 missense 0.03 benign 0.25 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ESP,ExAC,TOPMed,gnomAD rs372754664 14q11.2 14 22132925A> G null R G 78 78 missense 0.063 benign 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1397200439 14q11.2 14 22132929G> A null G D 79 79 missense 0.535 possibly damaging 0.03 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1171940388 14q11.2 14 22132928G> A null G S 79 79 missense 0.787 possibly damaging 0.04 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1431397172 14q11.2 14 22132934G> A null E K 81 81 missense 0.175 benign 0.1 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1350049622 14q11.2 14 22132937G> C null A P 82 82 missense 0.75 possibly damaging 0.01 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1012874502 14q11.2 14 22132938C> T null A V 82 82 missense 0.906 possibly damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1329428886 14q11.2 14 22132941A> T null E V 83 83 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,NCI-TCGA,gnomAD rs776770640 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22132953G> A null S N 87 87 missense 0.027 benign 0.31 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs764517041 14q11.2 14 22132952A> C null S R 87 87 missense 0.166 benign 0.09 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs550002331 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22132955G> A null E K 88 88 2.0E-4 missense 0.076 benign 0.15 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs558009151 14q11.2 14 22132958A> G null T A 89 89 2.0E-4 missense 0.074 benign 0.06 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs758712361 14q11.2 14 22132959C> T null T I 89 89 missense 0.683 possibly damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs767281006 14q11.2 14 22132962C> G null S C 90 90 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs767281006 14q11.2 14 22132962C> T null S F 90 90 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs756074531 14q11.2 14 22132968A> G null Y C 92 92 missense 0.777 possibly damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146104878 14q11.2 14 22132971T> C null L P 93 93 5.99E-4 missense 0.808 possibly damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs988222886 14q11.2 14 22132979C> T null P S 96 96 missense 0.037 benign 0.34 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs778427866 14q11.2 14 22132992T> C null V A 100 100 missense 0.093 benign 0.87 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs1414308053 14q11.2 14 22132997G> C null D H 102 102 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs745474156 14q11.2 14 22133000G> A null A T 103 103 missense 0.009 benign 0.07 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs771726977 14q11.2 14 22133001C> T null A V 103 103 missense 0.021 benign 0.04 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs1462782149 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22133004C> T null A V 104 104 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188885662 14q11.2 14 22133007A> C null E A 105 105 5.99E-4 missense 0.212 benign 0.36 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ESP,ExAC,TOPMed,gnomAD rs377131790 14q11.2 14 22133008G> C null E D 105 105 missense 0.368 benign 0.25 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1226887323 14q11.2 14 22133011C> A null Y * 106 106 stop gained 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs769196380 14q11.2 14 22133009T> C null Y H 106 106 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) gnomAD rs1297245912 14q11.2 14 22133015T> C null C R 108 108 missense 0.931 probably damaging 0.02 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) TOPMed rs1419276121 14q11.2 14 22133016G> A null C Y 108 108 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ESP,ExAC,TOPMed,gnomAD rs369342785 14q11.2 14 22133022T> C null V A 110 110 missense 0.042 benign 0.1 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs762437570 14q11.2 14 22133024G> T null G C 111 111 missense 0.02 benign 0.04 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,gnomAD rs765357709 14q11.2 14 22133025G> T null G V 111 111 missense 0.193 benign 0.09 tolerated 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ESP,ExAC,gnomAD rs372410649 14q11.2 14 22133028A> T null D V 112 112 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,NCI-TCGA,gnomAD rs763199644 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22133031G> A null R K 113 113 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A075B6U6 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs766575147 14q11.2 14 22133032G> T null R S 113 113 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) gnomAD rs1277242591 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22520431G> A null G E 6 6 missense 0.521 possibly damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) gnomAD rs1217136867 14q11.2 14 22520430G> A null G R 6 6 missense 0.598 possibly damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) ExAC,NCI-TCGA,gnomAD rs777019497 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22520434G> A null G E 7 7 missense 0.13 benign 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) ExAC,NCI-TCGA,gnomAD rs761082148 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22520433G> A null G R 7 7 missense 0.859 possibly damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) ExAC,gnomAD rs761082148 14q11.2 14 22520433G> C null G R 7 7 missense 0.859 possibly damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) ESP,ExAC,TOPMed,gnomAD rs367621099 14q11.2 14 22520438G> C null K N 8 8 missense 0.929 probably damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) ESP,ExAC,TOPMed,gnomAD rs367621099 14q11.2 14 22520438G> T null K N 8 8 missense 0.929 probably damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) Ensembl rs757070249 14q11.2 14 22520443T> C null I T 10 10 missense 0.929 probably damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs534101954 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22520448G> A null G R 12 12 missense 0.999 probably damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) TOPMed rs1178429577 14q11.2 14 22520449G> T null G V 12 12 missense 0.999 probably damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) gnomAD rs1199361646 14q11.2 14 22520451C> G null Q E 13 13 missense 0.761 possibly damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) gnomAD rs1346742693 14q11.2 14 22520457_22520458insTTATATAGGGAGGAAAGCTTATCTTCGGACAGGGA A null G II* 14 15 stop gained 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371372463 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22520458C> T null T M 15 15 missense 0.999 probably damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181321163 14q11.2 14 22520465A> T null L F 17 17 missense 0.998 probably damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs185200009 14q11.2 14 22520470T> C null V A 19 19 3.99E-4 missense 0.808 possibly damaging 0 A0A075B6U7 TRAJ23 T cell receptor alpha joining 23 (Fragment) 1000Genomes,ExAC,gnomAD rs555744868 14q11.2 14 22520475C> T null P S 21 21 5.99E-4 missense 0.726 possibly damaging 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) ExAC,NCI-TCGA,gnomAD rs757839102 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22531948G> A null S N 4 4 missense 0.013 benign 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) gnomAD rs1420677060 14q11.2 14 22531951G> A null S N 5 5 missense 0.001 benign 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) TOPMed rs1393708851 14q11.2 14 22531954_22531955ins G null Y * 6 6 stop gained 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) gnomAD rs1172448055 14q11.2 14 22531955T> A null Y * 6 6 stop gained 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) ExAC,TOPMed,gnomAD rs750460917 14q11.2 14 22531957A> G null K R 7 7 missense 0.077 benign 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) TOPMed rs1429409229 14q11.2 14 22531963T> A null I N 9 9 missense 0.105 benign 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) gnomAD rs1445457486 14q11.2 14 22531965T> C null F L 10 10 missense 0.999 probably damaging 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) ExAC,TOPMed,gnomAD rs766428673 14q11.2 14 22531968G> A null G R 11 11 missense 0.982 probably damaging 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) ExAC,gnomAD rs780371086 14q11.2 14 22531972G> T null S I 12 12 missense 0.511 possibly damaging 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) gnomAD rs1273966599 14q11.2 14 22531975G> C null G A 13 13 missense 0.999 probably damaging 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) ExAC,TOPMed,gnomAD rs769442349 14q11.2 14 22531978C> T null T I 14 14 missense 1.0 probably damaging 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) gnomAD rs1317352511 14q11.2 14 22531992A> G null R G 19 19 missense 0.067 benign 0 A0A075B6U8 TRAJ12 T cell receptor alpha joining 12 (Fragment) TOPMed rs1211565079 14q11.2 14 22531995C> T null P S 20 20 missense 0.973 probably damaging 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) ExAC,gnomAD rs771039460 14q11.2 14 22544076A> C null T P 3 3 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) ExAC,gnomAD rs759625655 14q11.2 14 22544083G> A null G E 5 5 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) ExAC,gnomAD rs767678375 14q11.2 14 22544086C> T null T I 6 6 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs374283989 14q11.2 14 22544088A> C null I L 7 7 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) ExAC,gnomAD rs761569282 14q11.2 14 22544089T> C null I T 7 7 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs374283989 14q11.2 14 22544088A> G null I V 7 7 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs750364973 14q11.2 14 22544112G> T null G W 15 15 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) gnomAD rs1460100117 14q11.2 14 22544116C> T null T I 16 16 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) Ensembl rs1566356875 14q11.2 14 22544122T> C null V A 18 18 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) TOPMed rs927251637 14q11.2 14 22544127A> T null I F 20 20 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) ExAC,gnomAD rs750971914 14q11.2 14 22544132A> G null I M 21 21 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) gnomAD rs1167466739 14q11.2 14 22544130A> G null I V 21 21 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs754553583 14q11.2 14 22544133T> G null S A 22 22 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs754553583 14q11.2 14 22544133T> A null S T 22 22 missense 0.0 unknown 0 A0A075B6U9 TRAJ2 T cell receptor alpha joining 2 (non-functional) (Fragment) gnomAD rs1310415088 14q11.2 14 22544134C> A null S Y 22 22 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) ExAC rs747624060 14q11.2 14 22528529T> C null F L 2 2 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) gnomAD rs1349914060 14q11.2 14 22528536A> G null D G 4 4 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) TOPMed rs1375403359 14q11.2 14 22528538G> A null G S 5 5 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) gnomAD rs1279268670 14q11.2 14 22528550C> T null L F 9 9 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) TOPMed rs1187002502 14q11.2 14 22528551T> C null L P 9 9 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) ExAC,gnomAD rs769197264 14q11.2 14 22528553T> C null F L 10 10 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) gnomAD rs1206880010 14q11.2 14 22528560G> A null R K 12 12 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) gnomAD rs1231430358 14q11.2 14 22528561G> C null R S 12 12 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) gnomAD rs1194283751 14q11.2 14 22528563G> A null G E 13 13 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) gnomAD rs1469669214 14q11.2 14 22528562G> A null G R 13 13 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) ExAC,TOPMed,gnomAD rs771403389 14q11.2 14 22528565A> G null T A 14 14 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) Ensembl rs927864091 14q11.2 14 22528566C> T null T I 14 14 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) gnomAD rs1412064322 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22528570G> A null M I 15 15 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) ExAC,gnomAD rs774916872 14q11.2 14 22528569T> C null M T 15 15 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) TOPMed,gnomAD rs1173576492 14q11.2 14 22528568A> G null M V 15 15 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) gnomAD rs1330440574 14q11.2 14 22528572T> A null L * 16 16 stop gained 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) ExAC,gnomAD rs768002903 14q11.2 14 22528574A> G null K E 17 17 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) Ensembl rs867935599 14q11.2 14 22528578T> C null V A 18 18 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) ExAC,TOPMed,gnomAD rs775875232 14q11.2 14 22528577G> A null V M 18 18 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) gnomAD rs1231969317 14q11.2 14 22528582T> A null D E 19 19 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) gnomAD rs1372551083 14q11.2 14 22528580G> A null D N 19 19 missense 0.0 unknown 0 A0A075B6V0 TRAJ16 T cell receptor alpha joining 16 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377144544 14q11.2 14 22528583C> A null L I 20 20 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) ExAC,gnomAD rs747203871 14q11.2 14 22495916A> G null N S 2 2 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) ExAC,gnomAD rs747203871 14q11.2 14 22495916A> C null N T 2 2 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) TOPMed rs1371509983 14q11.2 14 22495922A> G null N S 4 4 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) TOPMed rs989869921 14q11.2 14 22495928T> A null M K 6 6 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370648856 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22495930C> T null R C 7 7 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368011140 14q11.2 14 22495931G> A null R H 7 7 3.99E-4 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368011140 14q11.2 14 22495931G> T null R L 7 7 3.99E-4 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) ESP,ExAC,TOPMed,gnomAD rs370648856 14q11.2 14 22495930C> A null R S 7 7 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) Ensembl rs879165353 14q11.2 14 22495946C> G null T S 12 12 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) gnomAD rs1158081539 14q11.2 14 22495949G> A null R K 13 13 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) gnomAD rs1395508109 14q11.2 14 22495952T> C null L P 14 14 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) TOPMed rs865877905 14q11.2 14 22495954A> G null T A 15 15 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) gnomAD rs1311249483 14q11.2 14 22495955C> T null T I 15 15 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) TOPMed rs865877905 14q11.2 14 22495954A> T null T S 15 15 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) ExAC rs774214402 14q11.2 14 22495957G> A null V I 16 16 missense 0.0 unknown 0 A0A075B6V1 TRAJ43 T cell receptor alpha joining 43 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373647555 14q11.2 14 22495963C> T null P S 18 18 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) gnomAD rs1313053580 14q11.2 14 22523602C> G null Y * 1 1 stop gained 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) TOPMed,gnomAD rs1306517296 14q11.2 14 22523600T> G null Y D 1 1 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) TOPMed,gnomAD rs1306517296 14q11.2 14 22523600T> C null Y H 1 1 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) TOPMed,gnomAD rs1306517296 14q11.2 14 22523600T> A null Y N 1 1 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) gnomAD rs1235732262 14q11.2 14 22523604A> T null N I 2 2 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) ExAC,gnomAD rs753744409 14q11.2 14 22523606T> C null F L 3 3 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) ExAC,TOPMed,gnomAD rs761836849 14q11.2 14 22523611C> G null N K 4 4 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) ExAC rs750397506 14q11.2 14 22523616T> C null F S 6 6 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) ExAC rs757873994 14q11.2 14 22523618T> G null Y D 7 7 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) gnomAD rs1482276255 14q11.2 14 22523625G> A null G E 9 9 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) gnomAD rs1254665552 14q11.2 14 22523624G> A null G R 9 9 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) gnomAD rs1268520113 14q11.2 14 22523628C> T null S F 10 10 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs80225266 14q11.2 14 22523627T> C null S P 10 10 0.002596 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) gnomAD rs1177794281 14q11.2 14 22523631G> A null G E 11 11 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371623283 14q11.2 14 22523630G> A null G R 11 11 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374231233 14q11.2 14 22523634C> T null T I 12 12 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374231233 14q11.2 14 22523634C> A null T N 12 12 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) gnomAD rs1433620078 14q11.2 14 22523633A> C null T P 12 12 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) TOPMed,gnomAD rs1038149450 14q11.2 14 22523638A> C null K N 13 13 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) ESP,TOPMed,gnomAD rs370814130 14q11.2 14 22523639C> T null L F 14 14 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) ESP,TOPMed,gnomAD rs370814130 14q11.2 14 22523639C> G null L V 14 14 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) TOPMed rs1234242876 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22523643A> G null N S 15 15 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) ExAC,gnomAD rs748448572 14q11.2 14 22523648A> C null K Q 17 17 missense 0.0 unknown 0 A0A075B6V2 TRAJ21 T cell receptor alpha joining 21 (Fragment) gnomAD rs1368083098 14q11.2 14 22523652C> A null P Q 18 18 missense 0.0 unknown 0 A0A075B6V3 TRAJ48 T cell receptor alpha joining 48 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs535468071 14q11.2 14 22490500T> C null F S 4 4 2.0E-4 missense 0.0 unknown 0 A0A075B6V3 TRAJ48 T cell receptor alpha joining 48 (Fragment) gnomAD rs1459347480 14q11.2 14 22490503G> A null G E 5 5 missense 0.0 unknown 0 A0A075B6V3 TRAJ48 T cell receptor alpha joining 48 (Fragment) ExAC,TOPMed,gnomAD rs748108299 14q11.2 14 22490508G> A null E K 7 7 missense 0.0 unknown 0 A0A075B6V3 TRAJ48 T cell receptor alpha joining 48 (Fragment) ExAC,TOPMed,gnomAD rs748108299 14q11.2 14 22490508G> C null E Q 7 7 missense 0.0 unknown 0 A0A075B6V3 TRAJ48 T cell receptor alpha joining 48 (Fragment) gnomAD rs1425340802 14q11.2 14 22490524G> A null G E 12 12 missense 0.0 unknown 0 A0A075B6V3 TRAJ48 T cell receptor alpha joining 48 (Fragment) TOPMed rs1351867824 14q11.2 14 22490527C> T null T I 13 13 missense 0.0 unknown 0 A0A075B6V3 TRAJ48 T cell receptor alpha joining 48 (Fragment) gnomAD rs1416084706 14q11.2 14 22490530G> C null G A 14 14 missense 0.0 unknown 0 A0A075B6V3 TRAJ48 T cell receptor alpha joining 48 (Fragment) gnomAD rs1416084706 14q11.2 14 22490530G> A null G E 14 14 missense 0.0 unknown 0 A0A075B6V3 TRAJ48 T cell receptor alpha joining 48 (Fragment) ExAC,gnomAD rs762643397 14q11.2 14 22490533C> G null T R 15 15 missense 0.0 unknown 0 A0A075B6V3 TRAJ48 T cell receptor alpha joining 48 (Fragment) ExAC,gnomAD rs765993628 14q11.2 14 22490548T> C null I T 20 20 missense 0.0 unknown 0 A0A075B6V3 TRAJ48 T cell receptor alpha joining 48 (Fragment) ExAC,gnomAD rs774742169 14q11.2 14 22490551C> A null P H 21 21 missense 0.0 unknown 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1401540717 14q11.2 14 22226765A> T null M L 2 2 missense 0.006 benign 1.0 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1410149567 14q11.2 14 22226766T> C null M T 2 2 missense 0.012 benign 0.17 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ExAC,gnomAD rs180735919 14q11.2 14 22226772G> A null C Y 4 4 missense 0.0 benign 1.0 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1440857725 14q11.2 14 22226774C> G null P A 5 5 missense 0.0 benign 0.86 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed,gnomAD rs1283772657 14q11.2 14 22226775C> T null P L 5 5 missense 0.0 benign 0.51 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375642710 14q11.2 14 22226777C> T null Q * 6 6 3.99E-4 stop gained 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1221663574 14q11.2 14 22226784T> G null L * 8 8 stop gained 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ExAC,gnomAD rs186122518 14q11.2 14 22226789G> C null A P 10 10 2.0E-4 missense 0.532 possibly damaging 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed,gnomAD rs1269245806 14q11.2 14 22226793T> A null I N 11 11 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed rs898777458 14q11.2 14 22226800G> T null W C 13 13 missense 0.482 possibly damaging 0.25 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1197766995 14q11.2 14 22226798T> A null W R 13 13 missense 0.864 possibly damaging 0.03 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1197766995 14q11.2 14 22226798T> C null W R 13 13 missense 0.864 possibly damaging 0.03 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs781044587 14q11.2 14 22226801C> T null L F 14 14 missense 0.248 benign 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs752621885 14q11.2 14 22226802T> G null L R 14 14 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs777388447 14q11.2 14 22226808T> C null L P 16 16 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs753861469 14q11.2 14 22226967G> A null W * 18 18 stop gained 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1385625156 14q11.2 14 22226968G> T null W C 18 18 missense 0.042 benign 0.04 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369257117 14q11.2 14 22226969G> A null V M 19 19 0.001797 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 Ensembl rs1566550330 14q11.2 14 22226974C> A null S R 20 20 missense 0.03 benign 0.27 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed rs949922344 14q11.2 14 22226975A> G null S G 21 21 missense 0.025 benign 1.0 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1437306871 14q11.2 14 22226976G> A null S N 21 21 missense 0.29 benign 0.04 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes rs552280400 14q11.2 14 22226988T> G null V G 25 25 2.0E-4 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs771820306 14q11.2 14 22226987G> A null V M 25 25 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ESP,ExAC,TOPMed,gnomAD rs372226996 14q11.2 14 22226994A> G null Q R 27 27 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs769026600 14q11.2 14 22227000C> T null P L 29 29 missense 0.412 benign 0.05 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1261784828 14q11.2 14 22226999C> T null P S 29 29 missense 0.714 possibly damaging 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed,gnomAD rs1203936507 14q11.2 14 22227002C> G null L V 30 30 missense 0.097 benign 0.3 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1261463241 14q11.2 14 22227006C> A null S Y 31 31 missense 0.069 benign 0.15 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1244602160 14q11.2 14 22227019C> A null H Q 35 35 missense 0.007 benign 1.0 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1442202083 14q11.2 14 22227022G> C null E D 36 36 missense 0.134 benign 0.03 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed rs1415963930 14q11.2 14 22227020G> C null E Q 36 36 missense 0.845 possibly damaging 0.06 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1363922444 14q11.2 14 22227024G> C null G A 37 37 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs777082178 14q11.2 14 22227023G> A null G R 37 37 missense 0.99 probably damaging 0.04 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs762386841 14q11.2 14 22227029A> G null T A 39 39 missense 0.015 benign 0.63 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1156809240 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22227030C> T null T I 39 39 missense 0.06 benign 0.18 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs773397225 14q11.2 14 22227032G> A null V I 40 40 missense 0.015 benign 0.49 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs773397225 14q11.2 14 22227032G> C null V L 40 40 missense 0.015 benign 0.44 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs773397225 14q11.2 14 22227032G> T null V L 40 40 missense 0.015 benign 0.44 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1338868611 14q11.2 14 22227035A> G null T A 41 41 missense 0.413 benign 0.13 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed,gnomAD rs1380894364 14q11.2 14 22227036C> T null T I 41 41 missense 0.32 benign 0.11 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed rs1246440172 14q11.2 14 22227042A> G null N S 43 43 missense 0.02 benign 0.64 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ESP,ExAC,TOPMed,gnomAD rs377652293 14q11.2 14 22227044T> C null C R 44 44 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1318882293 14q11.2 14 22227045G> A null C Y 44 44 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs763990346 14q11.2 14 22227047A> G null S G 45 45 missense 0.637 possibly damaging 0.02 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1324636512 14q11.2 14 22227048G> T null S I 45 45 missense 0.813 possibly damaging 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed rs1298941618 14q11.2 14 22227054A> G null E G 47 47 missense 0.006 benign 0.24 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed rs764645719 14q11.2 14 22227053G> C null E Q 47 47 missense 0.037 benign 0.4 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs749987173 14q11.2 14 22227057T> C null V A 48 48 missense 0.036 benign 0.35 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs749987173 14q11.2 14 22227057T> G null V G 48 48 missense 0.011 benign 0.2 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs779629714 14q11.2 14 22227059A> G null T A 49 49 missense 0.007 benign 0.16 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs746694678 14q11.2 14 22227063A> C null N T 50 50 missense 0.011 benign 0.59 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373471424 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 14q11.2 14 22227068C> T null R * 52 52 3.99E-4 stop gained 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ExAC,TOPMed,gnomAD rs183554502 14q11.2 14 22227069G> T null R L 52 52 9.98E-4 missense 0.109 benign 0.14 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ExAC,TOPMed,gnomAD rs183554502 14q11.2 14 22227069G> A null R Q 52 52 9.98E-4 missense 0.001 benign 0.88 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs267603943 14q11.2 14 22227073C> A null S R 53 53 missense 0.077 benign 0.14 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs749341017 14q11.2 14 22227082G> A null W * 56 56 stop gained 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1481451652 14q11.2 14 22227084du p null Y * 57 57 stop gained 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 Ensembl rs867040519 14q11.2 14 22227086A> G null K E 58 58 missense 0.545 possibly damaging 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs771166709 14q11.2 14 22227090A> G null Q R 59 59 missense 0.933 probably damaging 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs774651219 14q11.2 14 22227096A> G null K R 61 61 missense 0.005 benign 0.48 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200649159 14q11.2 14 22227110T> C null F L 66 66 2.0E-4 missense 0.091 benign 0.54 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1306869796 14q11.2 14 22227121G> A null M I 69 69 missense 0.0 benign 0.41 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ESP,ExAC,TOPMed,gnomAD rs373752735 14q11.2 14 22227123T> C null L P 70 70 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1261620359 14q11.2 14 22227126C> T null T I 71 71 missense 0.005 benign 0.39 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1323354046 14q11.2 14 22227134G> A null G R 74 74 missense 0.749 possibly damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1208967749 14q11.2 14 22227135G> T null G V 74 74 missense 0.749 possibly damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs776559562 14q11.2 14 22227137A> G null I V 75 75 missense 0.003 benign 0.31 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1481288838 14q11.2 14 22227140G> A null E K 76 76 missense 0.281 benign 0.11 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1481288838 14q11.2 14 22227140G> C null E Q 76 76 missense 0.111 benign 0.15 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed,gnomAD rs1193603262 14q11.2 14 22227148G> T null K N 78 78 missense 0.132 benign 0.1 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1250922203 14q11.2 14 22227150C> T null S L 79 79 missense 0.007 benign 0.14 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1426927528 14q11.2 14 22227153G> A null G E 80 80 missense 0.747 possibly damaging 0.4 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1201589974 14q11.2 14 22227152G> A null G R 80 80 missense 0.944 probably damaging 0.03 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs761621642 14q11.2 14 22227158C> A null L I 82 82 missense 0.328 benign 0.08 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs761621642 14q11.2 14 22227158C> G null L V 82 82 missense 0.166 benign 0.1 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186036960 14q11.2 14 22227163T> A null S R 83 83 0.001198 missense 0.017 benign 1.0 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1356528668 14q11.2 14 22227165G> C null S T 84 84 missense 0.022 benign 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1407288186 14q11.2 14 22227169A> G null I M 85 85 missense 0.689 possibly damaging 0.02 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ESP,ExAC,TOPMed,gnomAD rs371057488 14q11.2 14 22227168T> C null I T 85 85 missense 0.001 benign 1.0 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1307478506 14q11.2 14 22227167A> G null I V 85 85 missense 0.061 benign 0.17 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 Ensembl rs1368348818 14q11.2 14 22227171T> G null L * 86 86 stop gained 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ESP,ExAC,TOPMed,gnomAD rs374278374 14q11.2 14 22227178G> C null K N 88 88 missense 0.328 benign 0.16 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1281992059 14q11.2 14 22227177A> C null K T 88 88 missense 0.05 benign 0.15 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs759244303 14q11.2 14 22227185C> T null L F 91 91 missense 0.007 benign 0.21 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs759244303 14q11.2 14 22227185C> A null L I 91 91 missense 0.091 benign 0.26 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4982579 14q11.2 14 22227189T> G null F C 92 92 0.1234 missense 0.761 possibly damaging 0.18 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4982579 14q11.2 14 22227189T> C null F S 92 92 0.1234 missense 0.007 benign 0.4 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1224849319 14q11.2 14 22227192G> A null S N 93 93 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed rs1308632070 14q11.2 14 22227198T> A null L Q 95 95 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC rs781531199 14q11.2 14 22227201A> T null N I 96 96 missense 0.476 possibly damaging 0.02 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed,gnomAD rs1488013779 14q11.2 14 22227207C> T null T I 98 98 missense 0.43 benign 0.08 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190752615 14q11.2 14 22227210C> A null A D 99 99 0.005391 missense 0.03 benign 0.22 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs748597008 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22227209G> T null A S 99 99 missense 0.138 benign 0.38 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs748597008 14q11.2 14 22227209G> A null A T 99 99 missense 0.187 benign 0.21 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190752615 14q11.2 14 22227210C> T null A V 99 99 0.005391 missense 0.111 benign 0.14 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1385932330 14q11.2 14 22227213C> T null T I 100 100 missense 0.43 benign 0.49 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1168273967 14q11.2 14 22227212A> C null T P 100 100 missense 0.125 benign 0.22 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1431872140 14q11.2 14 22227219C> A null T N 102 102 missense 0.32 benign 0.03 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed,gnomAD rs1349843098 14q11.2 14 22227218A> C null T P 102 102 missense 0.0 benign 1.0 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs771080706 14q11.2 14 22227221G> T null G * 103 103 stop gained 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1225711845 14q11.2 14 22227222G> A null G E 103 103 missense 0.005 benign 1.0 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,NCI-TCGA,gnomAD rs771080706 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22227221G> A null G R 103 103 missense 0.017 benign 0.33 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,gnomAD rs774632783 14q11.2 14 22227225A> G null D G 104 104 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs746087493 14q11.2 14 22227228C> A null S * 105 105 stop gained 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC,TOPMed,gnomAD rs746087493 14q11.2 14 22227228C> T null S L 105 105 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ExAC,gnomAD rs138553709 14q11.2 14 22227231C> A null A D 106 106 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ExAC,gnomAD rs138553709 14q11.2 14 22227231C> T null A V 106 106 2.0E-4 missense 0.967 probably damaging 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12889091 14q11.2 14 22227233A> T null I F 107 107 0.496 missense 0.014 benign 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ESP,ExAC,gnomAD rs371690774 14q11.2 14 22227235C> G null I M 107 107 missense 0.009 benign 0.01 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed rs1482341809 14q11.2 14 22227234T> A null I N 107 107 missense 0.078 benign 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12889091 14q11.2 14 22227233A> G null I V 107 107 0.496 missense 0.0 benign 0.1 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1188106726 14q11.2 14 22227238C> A null Y * 108 108 stop gained 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 gnomAD rs1484806407 14q11.2 14 22227237A> G null Y C 108 108 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ESP,ExAC rs376594485 14q11.2 14 22227240T> G null L R 109 109 missense 0.775 possibly damaging 0.05 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC rs762891696 14q11.2 14 22227246C> A null A D 111 111 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC rs773134757 14q11.2 14 22227245G> A null A T 111 111 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC rs765859843 14q11.2 14 22227249T> C null V A 112 112 missense 0.207 benign 0.05 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 TOPMed rs1223158470 14q11.2 14 22227248G> A null V M 112 112 missense 0.397 benign 0.07 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC rs759167768 14q11.2 14 22227253G> T null E D 113 113 missense 0.238 benign 0.17 tolerated 0 A0A075B6V5 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ExAC rs751136105 14q11.2 14 22227252A> G null E G 113 113 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B6V6 TRDJ2 T cell receptor delta joining 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs545314179 14q11.2 14 22456698C> A null A E 4 4 3.99E-4 missense 0.0 unknown 0 A0A075B6V6 TRDJ2 T cell receptor delta joining 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs545314179 14q11.2 14 22456698C> T null A V 4 4 3.99E-4 missense 0.0 unknown 0 A0A075B6V6 TRDJ2 T cell receptor delta joining 2 (Fragment) Ensembl rs1555364995 14q11.2 14 22456702A> C null Q H 5 5 missense 0.0 unknown 0 A0A075B6V6 TRDJ2 T cell receptor delta joining 2 (Fragment) ExAC,gnomAD rs756568790 14q11.2 14 22456712G> A null G R 9 9 missense 0.0 unknown 0 A0A075B6V6 TRDJ2 T cell receptor delta joining 2 (Fragment) 1000Genomes,ExAC,gnomAD rs544280604 14q11.2 14 22456715A> T null K * 10 10 2.0E-4 stop gained 0 A0A075B6V6 TRDJ2 T cell receptor delta joining 2 (Fragment) gnomAD rs1243359097 14q11.2 14 22456721A> G null T A 12 12 missense 0.0 unknown 0 A0A075B6V6 TRDJ2 T cell receptor delta joining 2 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372451495 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22456733G> A null V M 16 16 missense 0.0 unknown 0 A0A075B6V6 TRDJ2 T cell receptor delta joining 2 (Fragment) gnomAD rs1206705639 14q11.2 14 22456737A> T null E V 17 17 missense 0.0 unknown 0 A0A075B6V6 TRDJ2 T cell receptor delta joining 2 (Fragment) ExAC,gnomAD rs776517040 14q11.2 14 22456739C> G null P A 18 18 missense 0.0 unknown 0 A0A075B6V6 TRDJ2 T cell receptor delta joining 2 (Fragment) ExAC,gnomAD rs747987328 14q11.2 14 22456740C> A null P Q 18 18 missense 0.0 unknown 0 A0A075B6V6 TRDJ2 T cell receptor delta joining 2 (Fragment) ExAC,gnomAD rs776517040 14q11.2 14 22456739C> A null P T 18 18 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) ExAC,TOPMed,gnomAD rs759510166 14q11.2 14 22518449A> T null D V 2 2 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) gnomAD rs1482458777 14q11.2 14 22518453C> G null N K 3 3 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) ExAC,gnomAD rs767411956 14q11.2 14 22518456T> A null Y * 4 4 stop gained 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) gnomAD rs1270976500 14q11.2 14 22518457G> A null G S 5 5 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs532089325 14q11.2 14 22518479C> T null P L 12 12 2.0E-4 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) ExAC,TOPMed,gnomAD rs763625454 14q11.2 14 22518481G> A null G R 13 13 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) ExAC,TOPMed,gnomAD rs763625454 14q11.2 14 22518481G> C null G R 13 13 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) Ensembl rs868837668 14q11.2 14 22518484A> G null T A 14 14 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) ExAC,gnomAD rs753441283 14q11.2 14 22518485C> A null T N 14 14 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) ExAC,gnomAD rs756952653 14q11.2 14 22518487A> G null R G 15 15 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) ExAC,TOPMed,gnomAD rs770510486 14q11.2 14 22518490T> A null L M 16 16 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) TOPMed rs1484751528 14q11.2 14 22518494C> T null S F 17 17 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) TOPMed rs1185907417 14q11.2 14 22518493T> C null S P 17 17 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs146597268 14q11.2 14 22518497T> C null V A 18 18 0.01717 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150038840 14q11.2 14 22518496G> C null V L 18 18 2.0E-4 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs150038840 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22518496G> A null V M 18 18 2.0E-4 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) ExAC,gnomAD rs764634950 14q11.2 14 22518503C> A null P H 20 20 missense 0.0 unknown 0 A0A075B6V7 TRAJ26 T cell receptor alpha joining 26 (Fragment) ExAC,gnomAD rs764634950 14q11.2 14 22518503C> T null P L 20 20 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) ExAC,TOPMed,gnomAD rs753289191 14q11.2 14 22540249G> C null D H 2 2 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) ExAC,TOPMed,gnomAD rs753289191 14q11.2 14 22540249G> A null D N 2 2 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) ExAC,TOPMed,gnomAD rs753289191 14q11.2 14 22540249G> T null D Y 2 2 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3811196 14q11.2 14 22540253C> T null T M 3 3 0.02536 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) TOPMed,gnomAD rs1041556721 14q11.2 14 22540259G> A null R K 5 5 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) gnomAD rs1343210172 14q11.2 14 22540262G> A null R K 6 6 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) Ensembl rs1566354201 14q11.2 14 22540263A> T null R S 6 6 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) ExAC,TOPMed,gnomAD rs749467696 14q11.2 14 22540265C> G null A G 7 7 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) Ensembl rs1566354219 14q11.2 14 22540270A> C null T P 9 9 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) Ensembl rs1566354230 14q11.2 14 22540276G> A null G R 11 11 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) gnomAD rs1250744425 14q11.2 14 22540280G> C null S T 12 12 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) gnomAD rs1211375619 14q11.2 14 22540286C> T null T I 14 14 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) gnomAD rs1490242217 14q11.2 14 22540291C> T null L F 16 16 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) gnomAD rs1194707097 14q11.2 14 22540292T> A null L H 16 16 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) 1000Genomes,ExAC,gnomAD rs536704786 14q11.2 14 22540296A> C null Q H 17 17 2.0E-4 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) TOPMed rs1392787405 14q11.2 14 22540295A> G null Q R 17 17 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) gnomAD rs1476915910 14q11.2 14 22540298T> G null V G 18 18 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) gnomAD rs1169844976 14q11.2 14 22540300C> A null Q K 19 19 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) ExAC,gnomAD rs779295769 14q11.2 14 22540303C> T null P S 20 20 missense 0.0 unknown 0 A0A075B6V8 TRAJ5 T cell receptor alpha joining 5 (Fragment) ExAC,gnomAD rs779295769 14q11.2 14 22540303C> A null P T 20 20 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) gnomAD rs1424831479 14q11.2 14 22476558G> A null E K 3 3 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) gnomAD rs1369889794 14q11.2 14 22476562G> A null G E 4 4 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) gnomAD rs1187800645 14q11.2 14 22476561G> A null G R 4 4 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) TOPMed rs1335190760 14q11.2 14 22476568G> A null R K 6 6 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) ExAC,gnomAD rs779899237 14q11.2 14 22476579T> G null F V 10 10 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) TOPMed,gnomAD rs1195168131 14q11.2 14 22476583G> T null G V 11 11 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) TOPMed,gnomAD rs1296270552 14q11.2 14 22476587G> A null M I 12 12 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs776131978 14q11.2 14 22476589G> C null G A 13 13 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs776131978 14q11.2 14 22476589G> A null G E 13 13 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs746526443 14q11.2 14 22476588G> A null G R 13 13 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs746526443 14q11.2 14 22476588G> T null G W 13 13 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs373939308 14q11.2 14 22476592C> A null T K 14 14 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373939308 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22476592C> T null T M 14 14 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) gnomAD rs1244369853 14q11.2 14 22476597G> A null V M 16 16 missense 0.0 unknown 0 A0A075B6V9 TRAJ59 T cell receptor alpha joining 59 (non-functional) (Fragment) gnomAD rs1310003730 14q11.2 14 22476603G> A null V M 18 18 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) ESP,TOPMed,gnomAD rs369282632 14q11.2 14 22459099T> C null S P 2 2 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) ExAC,gnomAD rs777568840 14q11.2 14 22459103G> A null W * 3 3 stop gained 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) gnomAD rs1407383367 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22459109C> T null T I 5 5 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs562632544 14q11.2 14 22459111C> T null R * 6 6 2.0E-4 stop gained 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs531538024 14q11.2 14 22459112G> A null R Q 6 6 2.0E-4 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) Ensembl rs994151969 14q11.2 14 22459114C> T null Q * 7 7 stop gained 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) Ensembl rs994151969 14q11.2 14 22459114C> G null Q E 7 7 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) gnomAD rs1220907924 14q11.2 14 22459119G> A null M I 8 8 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62623444 14q11.2 14 22459126G> A null G R 11 11 0.02057 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) gnomAD rs1205030752 14q11.2 14 22459127G> T null G V 11 11 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) ExAC,gnomAD rs771649612 14q11.2 14 22459129A> G null T A 12 12 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374834273 14q11.2 14 22459130C> G null T S 12 12 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) TOPMed,gnomAD rs1204460742 14q11.2 14 22459132G> T null G C 13 13 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) TOPMed,gnomAD rs1204460742 14q11.2 14 22459132G> A null G S 13 13 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) 1000Genomes rs568361816 14q11.2 14 22459141C> T null L F 16 16 2.0E-4 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) ExAC,gnomAD rs764557065 14q11.2 14 22459145T> G null F C 17 17 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) ESP,ExAC,TOPMed,gnomAD rs370065075 14q11.2 14 22459147G> T null V L 18 18 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) ESP,ExAC,TOPMed,gnomAD rs370065075 14q11.2 14 22459147G> A null V M 18 18 missense 0.0 unknown 0 A0A075B6W1 TRDJ3 T cell receptor delta joining 3 (Fragment) ExAC,TOPMed,gnomAD rs750460747 14q11.2 14 22459154C> T null P L 20 20 missense 0.0 unknown 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) ExAC rs764873823 14q11.2 14 22486230A> G null N D 2 2 missense 0.058 benign 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) ExAC rs750263042 14q11.2 14 22486234C> T null A V 3 3 missense 0.053 benign 0.38 tolerated - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) gnomAD rs1226065319 14q11.2 14 22486236G> A null G S 4 4 missense 0.548 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) TOPMed,gnomAD rs1360113369 14q11.2 14 22486242A> G null T A 6 6 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375165665 14q11.2 14 22486243C> T null T I 6 6 2.0E-4 missense 0.036 benign 0.06 tolerated - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375165665 14q11.2 14 22486243C> A null T N 6 6 2.0E-4 missense 0.024 benign 0.14 tolerated - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375165665 14q11.2 14 22486243C> G null T S 6 6 2.0E-4 missense 0.0 benign 0.92 tolerated - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) ExAC rs780695766 14q11.2 14 22486246G> A null S N 7 7 missense 0.003 benign 0.31 tolerated - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76174912 14q11.2 14 22486250T> A null Y * 8 8 0.007388 stop gained 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) 1000Genomes,ExAC,gnomAD rs544323656 14q11.2 14 22486249A> G null Y C 8 8 2.0E-4 missense 0.891 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) ExAC rs777947360 14q11.2 14 22486252G> A null G E 9 9 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) Ensembl rs1566720664 14q11.2 14 22486251G> A null G R 9 9 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) gnomAD rs1263931395 14q11.2 14 22486257C> G null L V 11 11 missense 0.885 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) gnomAD rs1426869288 14q11.2 14 22486260A> C null T P 12 12 missense 0.804 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) TOPMed rs1238389828 14q11.2 14 22486266G> A null G R 14 14 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) gnomAD rs1188454756 14q11.2 14 22486269C> T null Q * 15 15 stop gained 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) gnomAD rs1188454756 14q11.2 14 22486269C> A null Q K 15 15 missense 0.592 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs529063276 14q11.2 14 22486273G> C null G A 16 16 2.0E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs529063276 14q11.2 14 22486273G> A null G E 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) gnomAD rs1443349616 14q11.2 14 22486276C> A null T N 17 17 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) TOPMed rs1479865394 14q11.2 14 22486275A> T null T S 17 17 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) gnomAD rs1349665705 14q11.2 14 22486278A> C null I L 18 18 missense 0.049 benign 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) TOPMed,gnomAD rs1457091378 14q11.2 14 22486279T> C null I T 18 18 missense 0.09 benign 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) ESP,ExAC,TOPMed,gnomAD rs370217567 14q11.2 14 22486287G> A null V I 21 21 missense 0.141 benign 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) ESP,ExAC,TOPMed,gnomAD rs370217567 14q11.2 14 22486287G> C null V L 21 21 missense 0.554 possibly damaging 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) gnomAD rs1248087249 14q11.2 14 22486290C> A null H N 22 22 missense 0.346 benign 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) TOPMed,gnomAD rs1052091426 14q11.2 14 22486292T> A null H Q 22 22 missense 0.033 benign 0.0 deleterious - low confidence 0 A0A075B6W2 TRAJ52 T cell receptor alpha joining 52 (Fragment) gnomAD rs1248087249 14q11.2 14 22486290C> T null H Y 22 22 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) gnomAD rs1166013110 14q11.2 14 22508606T> A null D E 2 2 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375099577 14q11.2 14 22508605A> G null D G 2 2 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) gnomAD rs1396007579 14q11.2 14 22508607A> G null S G 3 3 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) gnomAD rs1387612274 14q11.2 14 22508608G> A null S N 3 3 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) gnomAD rs1325800755 14q11.2 14 22508609C> G null S R 3 3 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) TOPMed rs1434137144 14q11.2 14 22508610A> G null N D 4 4 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) TOPMed rs1346877847 14q11.2 14 22508614A> G null Y C 5 5 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) gnomAD rs1343676700 14q11.2 14 22508618G> C null Q H 6 6 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) TOPMed,gnomAD rs1404418292 14q11.2 14 22508621A> T null L F 7 7 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) gnomAD rs1167128717 14q11.2 14 22508620T> C null L S 7 7 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) 1000Genomes,ExAC,gnomAD rs543174809 14q11.2 14 22508624C> G null I M 8 8 2.0E-4 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) 1000Genomes rs573668828 14q11.2 14 22508622A> G null I V 8 8 2.0E-4 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) gnomAD rs1342996896 14q11.2 14 22508627G> A null W * 9 9 stop gained 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) Ensembl rs1566735056 14q11.2 14 22508632C> A null A D 11 11 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372407931 14q11.2 14 22508631G> T null A S 11 11 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372407931 14q11.2 14 22508631G> A null A T 11 11 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149420927 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22508635G> A null G E 12 12 0.003794 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) gnomAD rs1338316091 14q11.2 14 22508634G> A null G R 12 12 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) TOPMed,gnomAD rs1489598272 14q11.2 14 22508638C> T null T I 13 13 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) ExAC,gnomAD rs763639521 14q11.2 14 22508647T> G null I S 16 16 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) ExAC,gnomAD rs763639521 14q11.2 14 22508647T> C null I T 16 16 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) TOPMed,gnomAD rs1190733987 14q11.2 14 22508656C> T null P L 19 19 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) gnomAD rs1478787510 14q11.2 14 22508655C> T null P S 19 19 missense 0.0 unknown 0 A0A075B6W3 TRAJ33 T cell receptor alpha joining 33 (Fragment) gnomAD rs1478787510 14q11.2 14 22508655C> A null P T 19 19 missense 0.0 unknown 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1211656507 14q11.2 14 22493407G> T null K N 2 2 missense 0.003 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1211656507 14q11.2 14 22493407G> C null K N 2 2 missense 0.003 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ExAC,TOPMed,gnomAD rs775598713 14q11.2 14 22493406A> G null K R 2 2 missense 0.167 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ExAC,gnomAD rs745472593 14q11.2 14 22493415G> A null S N 5 5 missense 0.031 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs185825250 14q11.2 14 22493416C> A null S R 5 5 5.99E-4 missense 0.214 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1447999170 14q11.2 14 22493418G> A null G E 6 6 missense 0.552 possibly damaging 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ExAC,TOPMed,gnomAD rs761068681 14q11.2 14 22493417G> A null G R 6 6 missense 0.012 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ExAC,gnomAD rs769147115 14q11.2 14 22493420G> A null D N 7 7 missense 0.276 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1372082306 14q11.2 14 22493423A> G null K E 8 8 missense 0.52 possibly damaging 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) TOPMed rs1209096886 14q11.2 14 22493424A> G null K R 8 8 missense 0.054 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ExAC,TOPMed,gnomAD rs777064125 14q11.2 14 22493429A> G null T A 10 10 missense 0.158 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1168679174 14q11.2 14 22493433T> C null F S 11 11 missense 0.255 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ExAC,gnomAD rs762385147 14q11.2 14 22493436G> A null G E 12 12 missense 0.997 probably damaging 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1440058158 14q11.2 14 22493435G> A null G R 12 12 missense 0.998 probably damaging 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377583590 14q11.2 14 22493439C> T null T I 13 13 missense 0.834 possibly damaging 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377583590 14q11.2 14 22493439C> G null T S 13 13 missense 0.187 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ExAC,TOPMed,gnomAD rs763060958 14q11.2 14 22493441G> A null G R 14 14 missense 0.324 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1247327652 14q11.2 14 22493445C> T null T I 15 15 missense 0.883 possibly damaging 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ESP,ExAC,gnomAD rs370173435 14q11.2 14 22493447C> T null R C 16 16 missense 0.736 possibly damaging 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ESP,ExAC,gnomAD rs370173435 14q11.2 14 22493447C> G null R G 16 16 missense 0.147 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373101757 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22493448G> A null R H 16 16 missense 0.003 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ESP,ExAC,gnomAD rs370173435 14q11.2 14 22493447C> A null R S 16 16 missense 0.04 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1209471617 14q11.2 14 22493453G> A null A T 18 18 missense 0.048 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1250389176 14q11.2 14 22493454C> T null A V 18 18 missense 0.578 possibly damaging 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1257385826 14q11.2 14 22493457T> C null V A 19 19 missense 0.12 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1186223758 14q11.2 14 22493456G> A null V I 19 19 missense 0.754 possibly damaging 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) ExAC,gnomAD rs777727475 14q11.2 14 22493459A> G null R G 20 20 missense 0.003 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1166537995 14q11.2 14 22493460G> A null R K 20 20 missense 0.028 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1414985341 14q11.2 14 22493461G> T null R S 20 20 missense 0.147 benign 0 A0A075B6W4 TRAJ46 T cell receptor alpha joining 46 (Fragment) gnomAD rs1460431993 14q11.2 14 22493462C> T null P S 21 21 missense 0.392 benign 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed rs1442837037 14q11.2 14 22086455G> A null D N 2 2 missense 0.017 benign 0.29 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs762946710 14q11.2 14 22086462T> A null I N 4 4 missense 0.637 possibly damaging 0.06 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1240873356 14q11.2 14 22086473T> G null S A 8 8 missense 0.557 possibly damaging 0.31 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed rs1337420024 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22086474C> T null S L 8 8 missense 0.036 benign 1.0 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs766446183 14q11.2 14 22086496A> T null Q H 15 15 missense 0.105 benign 0.14 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1410444800 14q11.2 14 22086495A> G null Q R 15 15 missense 0.222 benign 0.06 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1441240864 14q11.2 14 22086503T> C null W R 18 18 missense 0.029 benign 0.18 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ExAC,TOPMed,gnomAD rs555003248 14q11.2 14 22086650G> C null W S 18 18 2.0E-4 missense 0.049 benign 0.19 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1471501137 14q11.2 14 22086652G> T null V L 19 19 missense 0.315 benign 0.1 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 Ensembl rs1046371696 14q11.2 14 22086655A> T null S C 20 20 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs367893420 14q11.2 14 22086657T> G null S R 20 20 missense 0.132 benign 0.16 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1327062197 14q11.2 14 22086656G> C null S T 20 20 missense 0.328 benign 0.05 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs759070016 14q11.2 14 22086658G> T null G C 21 21 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ExAC,gnomAD rs574752655 14q11.2 14 22086659G> A null G D 21 21 2.0E-4 missense 0.949 probably damaging 0.01 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs759070016 14q11.2 14 22086658G> A null G S 21 21 missense 0.264 benign 0.41 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1275403384 14q11.2 14 22086662A> C null Q P 22 22 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs371715126 14q11.2 14 22086664C> T null Q * 23 23 stop gained 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs371715126 14q11.2 14 22086664C> A null Q K 23 23 missense 0.379 benign 0.02 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs760203578 14q11.2 14 22086670G> A null E K 25 25 missense 0.014 benign 0.14 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1252023527 14q11.2 14 22086684G> T null Q H 29 29 missense 0.823 possibly damaging 0.07 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1428521250 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22086685C> A null Q K 30 30 missense 0.177 benign 0.05 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs375848346 14q11.2 14 22086689A> T null Q L 31 31 missense 0.112 benign 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs757686191 14q11.2 14 22086691G> A null V M 32 32 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ExAC,gnomAD rs540666482 14q11.2 14 22086697C> G null Q E 34 34 2.0E-4 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ExAC,gnomAD rs540666482 14q11.2 14 22086697C> A null Q K 34 34 2.0E-4 missense 0.74 possibly damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed rs1447914602 14q11.2 14 22086698A> G null Q R 34 34 missense 0.696 possibly damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed rs1247695690 14q11.2 14 22086703C> A null P T 36 36 missense 0.444 benign 0.03 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1329042632 14q11.2 14 22086708A> C null Q H 37 37 missense 0.028 benign 0.09 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 Ensembl rs1566458202 14q11.2 14 22086709T> C null S P 38 38 missense 0.067 benign 0.17 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1325396989 14q11.2 14 22086713T> C null L S 39 39 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs369109383 14q11.2 14 22086719T> C null V A 41 41 missense 0.386 benign 0.01 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs369109383 14q11.2 14 22086719T> G null V G 41 41 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs747138129 14q11.2 14 22086721C> T null Q * 42 42 stop gained 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs768706537 14q11.2 14 22086722A> C null Q P 42 42 missense 0.132 benign 0.05 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs768706537 14q11.2 14 22086722A> G null Q R 42 42 missense 0.059 benign 0.21 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs781573179 14q11.2 14 22086724A> G null K E 43 43 missense 0.0 benign 1.0 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1295678265 14q11.2 14 22086730G> A null G R 45 45 missense 0.013 benign 0.35 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs749086233 14q11.2 14 22086733A> T null I F 46 46 missense 0.521 possibly damaging 0.29 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2272549 14q11.2 14 22086736T> C null S P 47 47 0.1727 missense 0.099 benign 0.02 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 Ensembl rs1566458233 14q11.2 14 22086739A> G null I V 48 48 missense 0.003 benign 1.0 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 Ensembl rs1011069778 14q11.2 14 22086742A> C null I L 49 49 missense 0.011 benign 1.0 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs377287291 14q11.2 14 22086748T> G null C G 51 51 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs377287291 14q11.2 14 22086748T> A null C S 51 51 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs759428936 14q11.2 14 22086752C> T null A V 52 52 missense 0.015 benign 0.01 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs772075663 14q11.2 14 22086756T> A null Y * 53 53 stop gained 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed rs1270454228 14q11.2 14 22086757G> A null E K 54 54 missense 0.014 benign 0.39 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1445944150 14q11.2 14 22086766G> A null A T 57 57 missense 0.03 benign 0.2 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370013945 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22086767C> T null A V 57 57 7.99E-4 missense 0.075 benign 0.07 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs763668839 14q11.2 14 22086772G> C null D H 59 59 missense 0.843 possibly damaging 0.03 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs376766349 14q11.2 14 22086776A> G null Y C 60 60 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed rs1366680426 14q11.2 14 22086782C> T null P L 62 62 missense 0.011 benign 0.74 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1157097303 14q11.2 14 22086785G> A null W * 63 63 stop gained 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,gnomAD rs370575473 14q11.2 14 22086784T> A null W R 63 63 missense 0.906 possibly damaging 0.02 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs765632652 14q11.2 14 22086790C> T null Q * 65 65 stop gained 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1315272810 14q11.2 14 22086793C> A null Q K 66 66 missense 0.247 benign 0.2 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1016799817 14q11.2 14 22086799C> T null P S 68 68 missense 0.477 possibly damaging 0.04 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs751531598 14q11.2 14 22086808G> T null G C 71 71 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1258622014 14q11.2 14 22086809G> A null G D 71 71 missense 0.73 possibly damaging 0.02 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1259078192 14q11.2 14 22086812C> G null P R 72 72 missense 0.985 probably damaging 0.02 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs755179905 14q11.2 14 22086811C> T null P S 72 72 missense 0.879 possibly damaging 0.08 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs757090061 14q11.2 14 22086825A> G null I M 76 76 missense 0.359 benign 0.12 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs778813519 14q11.2 14 22086827C> T null A V 77 77 missense 0.355 benign 0.36 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs370245031 14q11.2 14 22086829A> G null I V 78 78 missense 0.108 benign 0.11 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370713720 14q11.2 14 22086832C> T null R C 79 79 3.99E-4 missense 0.765 possibly damaging 0.09 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs183101098 14q11.2 14 22086833G> A null R H 79 79 3.99E-4 missense 0.019 benign 0.38 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370713720 14q11.2 14 22086832C> A null R S 79 79 3.99E-4 missense 0.038 benign 0.32 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1175584022 14q11.2 14 22086836C> T null P L 80 80 missense 0.0 benign 0.09 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1175584022 14q11.2 14 22086836C> A null P Q 80 80 missense 0.062 benign 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 Ensembl rs777491811 14q11.2 14 22086840T> A null D E 81 81 missense 0.003 benign 0.29 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs761413516 14q11.2 14 22086839A> G null D G 81 81 missense 0.0 benign 0.39 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs776233264 14q11.2 14 22086838G> C null D H 81 81 missense 0.03 benign 0.54 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs761413516 14q11.2 14 22086839A> T null D V 81 81 missense 0.0 benign 0.73 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1375936916 14q11.2 14 22086841G> A null V M 82 82 missense 0.015 benign 0.56 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs909772078 14q11.2 14 22086844A> G null S G 83 83 missense 0.001 benign 0.29 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs764889440 14q11.2 14 22086846T> A null S R 83 83 missense 0.005 benign 0.2 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1375679990 14q11.2 14 22086847G> A null E K 84 84 missense 0.0 benign 1.0 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs773388324 14q11.2 14 22086853A> C null K Q 86 86 missense 0.003 benign 0.44 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1237619767 14q11.2 14 22086854A> C null K T 86 86 missense 0.062 benign 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1474871839 14q11.2 14 22086858A> C null E D 87 87 missense 0.0 benign 1.0 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141063011 14q11.2 14 22086859G> A null G R 88 88 9.98E-4 missense 0.315 benign 0.2 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed rs1305557490 14q11.2 14 22086871A> G null I V 92 92 missense 0.001 benign 1.0 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1209276179 14q11.2 14 22086880A> G null N D 95 95 missense 0.065 benign 0.22 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs375028522 14q11.2 14 22086881A> G null N S 95 95 missense 0.169 benign 0.18 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1481453492 14q11.2 14 22086887G> A null S N 97 97 missense 0.012 benign 0.12 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed rs1354330043 14q11.2 14 22086889G> C null A P 98 98 missense 0.828 possibly damaging 0.06 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1237399281 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22086890C> T null A V 98 98 missense 0.037 benign 0.12 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1454867100 14q11.2 14 22086895C> T null Q * 100 100 stop gained 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1454867100 14q11.2 14 22086895C> A null Q K 100 100 missense 0.003 benign 0.07 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs755090016 14q11.2 14 22086896A> T null Q L 100 100 missense 0.005 benign 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1453907446 14q11.2 14 22086898T> C null F L 101 101 missense 0.007 benign 1.0 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187071801 14q11.2 14 22086899T> C null F S 101 101 9.98E-4 missense 0.111 benign 0.01 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs372076335 14q11.2 14 22086905C> A null S * 103 103 stop gained 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ESP,ExAC,TOPMed,gnomAD rs372076335 14q11.2 14 22086905C> T null S L 103 103 missense 0.0 benign 1.0 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed rs933841036 14q11.2 14 22086908A> G null H R 104 104 missense 0.426 benign 0.02 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs746625809 14q11.2 14 22086910A> C null I L 105 105 missense 0.386 benign 0.03 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1368096846 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22086912C> G null I M 105 105 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs746625809 14q11.2 14 22086910A> G null I V 105 105 missense 0.552 possibly damaging 0.01 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ExAC,gnomAD rs538949800 14q11.2 14 22086915G> C null M I 106 106 2.0E-4 missense 0.0 benign 0.05 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed rs1482648656 14q11.2 14 22086914T> C null M T 106 106 missense 0.0 benign 1.0 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 Ensembl rs915482029 14q11.2 14 22086913A> G null M V 106 106 missense 0.0 benign 0.05 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1296135080 14q11.2 14 22086916G> A null D N 107 107 missense 0.034 benign 0.52 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1296135080 14q11.2 14 22086916G> T null D Y 107 107 missense 0.882 possibly damaging 0.04 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1309169584 14q11.2 14 22086920C> T null S F 108 108 missense 0.857 possibly damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,TOPMed,gnomAD rs746988362 14q11.2 14 22086923A> C null Q P 109 109 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed rs946890598 14q11.2 14 22086925C> T null P S 110 110 missense 0.477 possibly damaging 0.03 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1257154879 14q11.2 14 22086929G> C null G A 111 111 missense 0.523 possibly damaging 0.12 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374086659 14q11.2 14 22086931G> A null D N 112 112 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374086659 14q11.2 14 22086931G> T null D Y 112 112 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1336243119 14q11.2 14 22086935C> T null S L 113 113 missense 0.845 possibly damaging 0.01 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 ExAC,gnomAD rs776068456 14q11.2 14 22086938C> G null A G 114 114 missense 0.306 benign 0.04 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 TOPMed,gnomAD rs1006532137 14q11.2 14 22086940A> T null T S 115 115 missense 0.192 benign 0.04 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1421826977 14q11.2 14 22086946T> C null F L 117 117 missense 0.205 benign 0.13 tolerated 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1427229573 14q11.2 14 22086947T> C null F S 117 117 missense 0.879 possibly damaging 0.0 deleterious 0 A0A075B6W5 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 gnomAD rs1170658040 14q11.2 14 22086949T> C null C R 118 118 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6W6 TRAJ27 T cell receptor alpha joining 27 (Fragment) ExAC rs751468558 14q11.2 14 22516275A> G null N S 2 2 missense 0.0 unknown 0 A0A075B6W6 TRAJ27 T cell receptor alpha joining 27 (Fragment) ExAC,gnomAD rs754466696 14q11.2 14 22516277A> G null T A 3 3 missense 0.0 unknown 0 A0A075B6W6 TRAJ27 T cell receptor alpha joining 27 (Fragment) TOPMed,gnomAD rs961705237 14q11.2 14 22516282T> A null N K 4 4 missense 0.0 unknown 0 A0A075B6W6 TRAJ27 T cell receptor alpha joining 27 (Fragment) ExAC,TOPMed,gnomAD rs780586045 14q11.2 14 22516281A> G null N S 4 4 missense 0.0 unknown 0 A0A075B6W6 TRAJ27 T cell receptor alpha joining 27 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs755801528 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22516296C> T null T I 9 9 missense 0.0 unknown 0 A0A075B6W6 TRAJ27 T cell receptor alpha joining 27 (Fragment) gnomAD rs1178824993 14q11.2 14 22516304G> T null D Y 12 12 missense 0.0 unknown 0 A0A075B6W6 TRAJ27 T cell receptor alpha joining 27 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372487512 14q11.2 14 22516314C> T null T M 15 15 missense 0.0 unknown 0 A0A075B6W6 TRAJ27 T cell receptor alpha joining 27 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372487512 14q11.2 14 22516314C> G null T R 15 15 missense 0.0 unknown 0 A0A075B6W6 TRAJ27 T cell receptor alpha joining 27 (Fragment) TOPMed rs985874756 14q11.2 14 22516316C> T null L F 16 16 missense 0.0 unknown 0 A0A075B6W6 TRAJ27 T cell receptor alpha joining 27 (Fragment) 1000Genomes rs552690031 14q11.2 14 22516323T> C null V A 18 18 2.0E-4 missense 0.0 unknown 0 A0A075B6W6 TRAJ27 T cell receptor alpha joining 27 (Fragment) gnomAD rs1374392461 14q11.2 14 22516322G> A null V M 18 18 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) ExAC,gnomAD rs749932534 14q11.2 14 22502236C> A null A D 3 3 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) gnomAD rs1172629611 14q11.2 14 22502239G> A null G D 4 4 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) TOPMed,gnomAD rs761049493 14q11.2 14 22502247C> T null R C 7 7 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377010429 14q11.2 14 22502248G> A null R H 7 7 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377010429 14q11.2 14 22502248G> C null R P 7 7 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) ExAC,gnomAD rs781593981 14q11.2 14 22502254T> C null L P 9 9 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) TOPMed rs1438971447 14q11.2 14 22502261G> C null W C 11 11 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) TOPMed,gnomAD rs1272671983 14q11.2 14 22502259T> G null W G 11 11 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) ExAC,gnomAD rs756681717 14q11.2 14 22502260G> C null W S 11 11 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) ExAC,gnomAD rs778480195 14q11.2 14 22502263G> A null G E 12 12 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs572702885 14q11.2 14 22502266T> A null L * 13 13 2.0E-4 stop gained 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) gnomAD rs1273768714 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22502269G> A null G E 14 14 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) Ensembl rs1181734145 14q11.2 14 22502272C> A null T K 15 15 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) ExAC,gnomAD rs746057969 14q11.2 14 22502275G> T null S I 16 16 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) ExAC,TOPMed,gnomAD rs772232446 14q11.2 14 22502276C> A null S R 16 16 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17118924 14q11.2 14 22502281C> G null A G 18 18 0.04772 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17118924 14q11.2 14 22502281C> T null A V 18 18 0.04772 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) gnomAD rs1195921495 14q11.2 14 22502283G> A null V I 19 19 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) ExAC,TOPMed,gnomAD rs773065680 14q11.2 14 22502290C> T null P L 21 21 missense 0.0 unknown 0 A0A075B6W7 TRAJ38 T cell receptor alpha joining 38 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs558147192 14q11.2 14 22502289C> A null P T 21 21 2.0E-4 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1443413401 14q11.2 14 22526846A> C null I L 2 2 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1370344688 14q11.2 14 22526848C> G null I M 2 2 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1323932037 14q11.2 14 22526847T> A null I N 2 2 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1323932037 14q11.2 14 22526847T> C null I T 2 2 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1443413401 14q11.2 14 22526846A> G null I V 2 2 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) ExAC,TOPMed,gnomAD rs758203511 14q11.2 14 22526849A> G null K E 3 3 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) ExAC,TOPMed,gnomAD rs758203511 14q11.2 14 22526849A> C null K Q 3 3 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1298453310 14q11.2 14 22526850A> G null K R 3 3 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1227215147 14q11.2 14 22526852G> A null A T 4 4 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs754330382 14q11.2 14 22526856C> G null A G 5 5 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148590887 14q11.2 14 22526859G> A null G D 6 6 0.003794 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs542988023 14q11.2 14 22526858G> A null G S 6 6 2.0E-4 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148590887 14q11.2 14 22526859G> T null G V 6 6 0.003794 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1421615828 14q11.2 14 22526862A> G null N S 7 7 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) ExAC,TOPMed,gnomAD rs769554160 14q11.2 14 22526865A> G null K R 8 8 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) ExAC,TOPMed,gnomAD rs769554160 14q11.2 14 22526865A> C null K T 8 8 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1169426378 14q11.2 14 22526871C> T null T I 10 10 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1010014525 14q11.2 14 22526877G> C null G A 12 12 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1010014525 14q11.2 14 22526877G> A null G E 12 12 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1368870067 14q11.2 14 22526876G> A null G R 12 12 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1324153771 14q11.2 14 22526880G> C null G A 13 13 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1324153771 14q11.2 14 22526880G> A null G E 13 13 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1435995717 14q11.2 14 22526883G> A null G E 14 14 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1393815102 14q11.2 14 22526882G> C null G R 14 14 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1393815102 14q11.2 14 22526882G> A null G R 14 14 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) ExAC,gnomAD rs772999021 14q11.2 14 22526886C> T null T I 15 15 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) ExAC,gnomAD rs772999021 14q11.2 14 22526886C> A null T N 15 15 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1360431560 14q11.2 14 22526888A> G null R G 16 16 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1382186484 14q11.2 14 22526889G> A null R K 16 16 missense 0.0 unknown 0 A0A075B6W8 TRAJ17 T cell receptor alpha joining 17 (Fragment) gnomAD rs1234730136 14q11.2 14 22526899_22526902du p null P * 21 21 stop gained 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) ExAC,TOPMed,gnomAD rs745416462 14q11.2 14 22483010G> T null S I 3 3 missense 0.127 benign 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) gnomAD rs1271486026 14q11.2 14 22483016G> A null G D 5 5 missense 0.44 benign 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) gnomAD rs1223891117 14q11.2 14 22483015G> A null G S 5 5 missense 0.01 benign 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) gnomAD rs1196804899 14q11.2 14 22483020C> A null S R 6 6 missense 0.859 possibly damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73588937 14q11.2 14 22483025A> G null Y C 8 8 0.003794 missense 0.935 probably damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) ExAC,TOPMed,gnomAD rs761087461 14q11.2 14 22483028A> T null K I 9 9 missense 0.967 probably damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) ExAC,TOPMed,gnomAD rs761087461 14q11.2 14 22483028A> G null K R 9 9 missense 0.606 possibly damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) 1000Genomes,ExAC,gnomAD rs531344170 14q11.2 14 22483036T> C null F L 12 12 2.0E-4 missense 0.998 probably damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) gnomAD rs1164199966 14q11.2 14 22483039G> A null G R 13 13 missense 0.98 probably damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) 1000Genomes,ExAC,gnomAD rs548331695 14q11.2 14 22483044A> C null K N 14 14 2.0E-4 missense 0.204 benign 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) TOPMed rs1390220461 14q11.2 14 22483043A> C null K T 14 14 missense 0.88 possibly damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) TOPMed rs1320560837 14q11.2 14 22483045G> T null G * 15 15 stop gained 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) gnomAD rs1402915978 14q11.2 14 22483049C> A null T N 16 16 missense 1.0 probably damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) ExAC,TOPMed,gnomAD rs762258857 14q11.2 14 22483051C> T null L F 17 17 missense 0.976 probably damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) gnomAD rs1327199245 14q11.2 14 22483052T> C null L P 17 17 missense 0.28 benign 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) TOPMed rs900687390 14q11.2 14 22483058C> A null T N 19 19 missense 0.944 probably damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192927563 14q11.2 14 22483060G> A null V M 20 20 5.99E-4 missense 0.999 probably damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) ExAC,TOPMed,gnomAD rs763012138 14q11.2 14 22483064A> G null N S 21 21 missense 0.182 benign 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) ExAC,gnomAD rs766612662 14q11.2 14 22483066C> G null P A 22 22 missense 0.397 benign 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) TOPMed,gnomAD rs1262893482 14q11.2 14 22483067C> T null P L 22 22 missense 0.916 probably damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) TOPMed,gnomAD rs1262893482 14q11.2 14 22483067C> A null P Q 22 22 missense 0.975 probably damaging 0 A0A075B6W9 TRAJ53 T cell receptor alpha joining 53 (Fragment) ExAC,gnomAD rs766612662 14q11.2 14 22483066C> T null P S 22 22 missense 0.878 possibly damaging 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) Ensembl rs1566725990 14q11.2 14 22493927T> C null Y H 2 2 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1191725203 14q11.2 14 22493931C> A null S * 3 3 stop gained 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1191725203 14q11.2 14 22493931C> G null S * 3 3 stop gained 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1469752760 14q11.2 14 22493930T> C null S P 3 3 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1170282840 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22493934G> A null G E 4 4 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1449808500 14q11.2 14 22493933G> C null G R 4 4 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) TOPMed rs1399218588 14q11.2 14 22493936G> A null G R 5 5 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1409613119 14q11.2 14 22493940G> A null G D 6 6 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1417564732 14q11.2 14 22493939G> A null G S 6 6 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1165567578 14q11.2 14 22493942G> A null A T 7 7 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1439301761 14q11.2 14 22493945G> A null D N 8 8 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375707150 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22493948G> A null G R 9 9 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1325699873 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22493954A> G null T A 11 11 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1325699873 14q11.2 14 22493954A> C null T P 11 11 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) ExAC,gnomAD rs759847239 14q11.2 14 22493958T> G null F C 12 12 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) TOPMed,gnomAD rs1268787184 14q11.2 14 22493957T> C null F L 12 12 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1289942438 14q11.2 14 22493961G> A null G D 13 13 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1213684454 14q11.2 14 22493960G> A null G S 13 13 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1211317581 14q11.2 14 22493963A> G null K E 14 14 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1465301798 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22493967G> A null G E 15 15 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) ExAC,gnomAD rs763945470 14q11.2 14 22493966G> C null G R 15 15 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) ExAC,gnomAD rs763945470 14q11.2 14 22493966G> A null G R 15 15 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1240209785 14q11.2 14 22493970C> T null T I 16 16 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1475202067 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22493972C> T null H Y 17 17 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) ExAC,gnomAD rs757121644 14q11.2 14 22493976T> C null L P 18 18 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) ExAC,gnomAD rs765261291 14q11.2 14 22493978A> G null I V 19 19 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) ExAC,gnomAD rs749897992 14q11.2 14 22493984C> T null Q * 21 21 stop gained 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) gnomAD rs1459343010 14q11.2 14 22493988C> T null P L 22 22 missense 0.0 unknown 0 A0A075B6X0 TRAJ45 T cell receptor alpha joining 45 (Fragment) ExAC,gnomAD rs757962033 14q11.2 14 22493987C> A null P T 22 22 missense 0.0 unknown 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1458413631 14q11.2 14 22462934A> T null S C 2 2 missense 0.513 possibly damaging 0.01 deleterious - low confidence 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1295373161 14q11.2 14 22462940C> T null P S 4 4 missense 0.138 benign 0.12 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1295373161 14q11.2 14 22462940C> A null P T 4 4 missense 0.08 benign 0.1 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1389140606 14q11.2 14 22462944A> T null H L 5 5 missense 0.003 benign 0.57 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed rs902947048 14q11.2 14 22462955T> C null S P 9 9 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs61736286 14q11.2 14 22462958G> A null V I 10 10 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed,gnomAD rs1244809512 14q11.2 14 22462963T> A null F L 11 11 missense 0.995 probably damaging 0.09 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1266722186 14q11.2 14 22462965T> C null V A 12 12 missense 0.487 possibly damaging 0.01 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed rs895698304 14q11.2 14 22462969G> C null M I 13 13 missense 0.757 possibly damaging 0.01 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs772651236 14q11.2 14 22462980C> T null T I 17 17 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs772651236 14q11.2 14 22462980C> A null T K 17 17 missense 0.557 possibly damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs772651236 14q11.2 14 22462980C> G null T R 17 17 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs775368403 14q11.2 14 22462983A> G null N S 18 18 missense 0.164 benign 0.7 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed,gnomAD rs777094096 14q11.2 14 22462988G> A null A T 20 20 missense 0.726 possibly damaging 0.02 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs768818188 14q11.2 14 22462994C> A null L M 22 22 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed,gnomAD rs1457516203 14q11.2 14 22462998T> A null V E 23 23 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1160541784 14q11.2 14 22463004A> G null E G 25 25 missense 0.006 benign 0.01 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1391558121 14q11.2 14 22463008C> G null F L 26 26 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs767839149 14q11.2 14 22463011C> A null Y * 27 27 stop gained 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1455918046 14q11.2 14 22463009T> C null Y H 27 27 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) Ensembl rs909477295 14q11.2 14 22463015A> C null K Q 29 29 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed rs1320209043 14q11.2 14 22463019A> T null D V 30 30 missense 0.386 benign 0.03 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1314481685 14q11.2 14 22463024A> G null R G 32 32 missense 0.02 benign 0.25 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1389275634 14q11.2 14 22463030A> G null N D 34 34 missense 0.146 benign 0.32 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1427584035 14q11.2 14 22463033C> T null L F 35 35 missense 0.178 benign 0.1 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed rs1317052617 14q11.2 14 22463037T> C null V A 36 36 missense 0.012 benign 0.61 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs759332805 14q11.2 14 22463036G> A null V M 36 36 missense 0.232 benign 0.08 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1397192066 14q11.2 14 22463039T> C null S P 37 37 missense 0.134 benign 0.19 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) 1000Genomes rs550362048 14q11.2 14 22463043C> T null S F 38 38 2.0E-4 missense 0.861 possibly damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed rs969403673 14q11.2 14 22463046A> G null K R 39 39 missense 0.809 possibly damaging 0.02 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs750412674 14q11.2 14 22463055C> T null T I 42 42 missense 0.005 benign 0.49 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs750412674 14q11.2 14 22463055C> A null T K 42 42 missense 0.001 benign 1.0 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs752212817 14q11.2 14 22463072A> G null I V 48 48 missense 0.006 benign 0.5 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs755705144 14q11.2 14 22463075G> T null V F 49 49 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs755705144 14q11.2 14 22463075G> A null V I 49 49 missense 0.721 possibly damaging 0.04 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs753581778 14q11.2 14 22463078A> G null I V 50 50 missense 0.001 benign 1.0 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) Ensembl rs1566701693 14q11.2 14 22463082C> T null S F 51 51 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed rs1401973611 14q11.2 14 22463088G> T null S I 53 53 missense 0.61 possibly damaging 0.01 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) Ensembl rs746356599 14q11.2 14 22463087A> C null S R 53 53 missense 0.668 possibly damaging 0.06 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs779092741 14q11.2 14 22463091G> A null G E 54 54 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs779092741 14q11.2 14 22463091G> T null G V 54 54 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1182998757 14q11.2 14 22463096T> C null Y H 56 56 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1158839955 14q11.2 14 22463100A> G null N S 57 57 missense 0.001 benign 1.0 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs780562818 14q11.2 14 22463103C> T null A V 58 58 missense 0.861 possibly damaging 0.01 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) Ensembl rs1045138797 14q11.2 14 22463111C> T null L F 61 61 missense 0.223 benign 0.01 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ESP,ExAC,TOPMed,gnomAD rs368015364 14q11.2 14 22463115G> A null G D 62 62 missense 0.69 possibly damaging 0.13 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs768764700 14q11.2 14 22463120T> C null Y H 64 64 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs776830203 14q11.2 14 22463127A> G null D G 66 66 missense 0.081 benign 0.16 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs748426211 14q11.2 14 22463141A> G null T A 71 71 missense 0.648 possibly damaging 0.05 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) 1000Genomes,TOPMed rs567495314 14q11.2 14 22463145G> A null C Y 72 72 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs770068158 14q11.2 14 22463148C> T null S L 73 73 missense 0.082 benign 0.04 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ESP,ExAC,TOPMed,gnomAD rs371748326 14q11.2 14 22463159G> A null D N 77 77 missense 0.0 benign 1.0 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ESP,ExAC,TOPMed,gnomAD rs371748326 14q11.2 14 22463159G> T null D Y 77 77 missense 0.563 possibly damaging 0.01 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1483057446 14q11.2 14 22463165A> T null K * 79 79 stop gained 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1483057446 14q11.2 14 22463165A> G null K E 79 79 missense 0.003 benign 0.83 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs574238307 14q11.2 14 22463168A> G null T A 80 80 3.99E-4 missense 0.075 benign 0.49 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1254110032 14q11.2 14 22463169C> T null T I 80 80 missense 0.003 benign 0.51 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs574238307 14q11.2 14 22463168A> T null T S 80 80 3.99E-4 missense 0.148 benign 0.38 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1471675605 14q11.2 14 22463172T> A null V E 81 81 missense 0.929 probably damaging 0.01 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs763759232 14q11.2 14 22463177T> C null S P 83 83 missense 0.395 benign 0.11 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs138017769 14q11.2 14 22463180A> G null T A 84 84 7.99E-4 missense 0.02 benign 0.16 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1253591604 14q11.2 14 22463183G> A null D N 85 85 missense 0.066 benign 0.07 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs764975252 14q11.2 14 22463195A> T null K * 89 89 stop gained 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs750707387 14q11.2 14 22463198A> G null T A 90 90 missense 0.009 benign 0.35 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs758847857 14q11.2 14 22463199C> T null T I 90 90 missense 0.413 benign 0.07 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs758847857 14q11.2 14 22463199C> A null T K 90 90 missense 0.009 benign 0.72 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs780507830 14q11.2 14 22463208C> T null T I 93 93 missense 0.046 benign 0.1 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ESP,ExAC,TOPMed,gnomAD rs373983266 14q11.2 14 22463779G> A null V I 96 96 missense 0.003 benign 0.34 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed,gnomAD rs1363239835 14q11.2 14 22463785C> A null P T 98 98 missense 0.056 benign 0.12 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed rs1007690186 14q11.2 14 22463790G> T null K N 99 99 missense 0.146 benign 0.56 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1381408864 14q11.2 14 22463801A> C null N T 103 103 missense 0.49 possibly damaging 0.2 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs768668418 14q11.2 14 22463806A> G null K E 105 105 missense 0.003 benign 1.0 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs761198544 14q11.2 14 22463813C> A null P H 107 107 missense 0.009 benign 0.18 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1273034900 14q11.2 14 22463812C> A null P T 107 107 missense 0.003 benign 0.92 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs769413325 14q11.2 14 22463822G> C null S T 110 110 missense 0.003 benign 0.73 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed,gnomAD rs1473492068 14q11.2 14 22463826C> A null C * 111 111 stop gained 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs762607888 14q11.2 14 22463824T> G null C G 111 111 missense 0.943 probably damaging 0.1 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ESP,ExAC,TOPMed,gnomAD rs377686015 14q11.2 14 22463825G> A null C Y 111 111 missense 0.178 benign 0.22 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) Ensembl rs1208009081 14q11.2 14 22463827C> T null H Y 112 112 missense 0.001 benign 0.8 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1417012806 14q11.2 14 22463832A> T null K N 113 113 missense 0.047 benign 0.22 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed rs968952484 14q11.2 14 22463834C> T null P L 114 114 missense 0.496 possibly damaging 0.03 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1472894751 14q11.2 14 22463833C> A null P T 114 114 missense 0.316 benign 0.05 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) 1000Genomes,ExAC,gnomAD rs567304787 14q11.2 14 22463837A> G null K R 115 115 2.0E-4 missense 0.013 benign 0.39 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) 1000Genomes,ExAC,gnomAD rs529920102 14q11.2 14 22463839G> A null A T 116 116 2.0E-4 missense 0.747 possibly damaging 0.19 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) 1000Genomes,ExAC,gnomAD rs577120195 14q11.2 14 22464204C> T null A V 116 116 2.0E-4 missense 0.043 benign 0.27 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116460364 14q11.2 14 22464207T> C null I T 117 117 0.001597 missense 0.0 benign 0.88 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1184236128 14q11.2 14 22464209G> C null V L 118 118 missense 0.098 benign 0.2 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) Ensembl rs759453766 14q11.2 14 22464219A> G null E G 121 121 missense 0.034 benign 0.39 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs562503318 14q11.2 14 22464218G> A null E K 121 121 2.0E-4 missense 0.133 benign 0.78 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs768613133 14q11.2 14 22464223G> T null K N 122 122 missense 0.117 benign 0.09 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1413015541 14q11.2 14 22464231T> C null M T 125 125 missense 0.023 benign 0.32 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1427472559 14q11.2 14 22464230A> G null M V 125 125 missense 0.228 benign 0.05 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs780989031 14q11.2 14 22464234T> A null M K 126 126 missense 0.547 possibly damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs780989031 14q11.2 14 22464234T> C null M T 126 126 missense 0.067 benign 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) Ensembl rs1566702684 14q11.2 14 22464246T> G null V G 130 130 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1371220435 14q11.2 14 22464245G> A null V M 130 130 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1411809444 14q11.2 14 22464255T> A null L Q 133 133 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs748175859 14q11.2 14 22464257C> T null R * 134 134 stop gained 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs769633009 14q11.2 14 22464258G> A null R Q 134 134 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed rs1295802204 14q11.2 14 22464274G> T null K N 139 139 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs762481437 14q11.2 14 22464276C> T null T I 140 140 missense 0.452 possibly damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed rs1425779039 14q11.2 14 22464279T> C null V A 141 141 missense 0.716 possibly damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) TOPMed rs909778673 14q11.2 14 22464281G> A null A T 142 142 missense 0.785 possibly damaging 0.12 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,TOPMed,gnomAD rs774039096 14q11.2 14 22464284G> A null V I 143 143 missense 0.003 benign 1.0 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs759860471 14q11.2 14 22464290T> C null F L 145 145 missense 0.066 benign 0.41 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1199261438 14q11.2 14 22464292T> G null F L 145 145 missense 0.066 benign 0.41 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1437191567 14q11.2 14 22464291T> C null F S 145 145 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1248214614 14q11.2 14 22464293C> G null L V 146 146 missense 0.253 benign 0.15 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) gnomAD rs1452401790 14q11.2 14 22464297T> C null L S 147 147 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ESP,ExAC,TOPMed,gnomAD rs374397796 14q11.2 14 22464303C> T null A V 149 149 missense 0.133 benign 0.12 tolerated 0 A0A075B6X2 TRDC T cell receptor delta constant (Fragment) ExAC,gnomAD rs761183349 14q11.2 14 22464313T> G null F L 152 152 missense 0.034 benign 0.07 tolerated 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) gnomAD rs1378689306 14q11.2 14 22509347A> G null Y C 3 3 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) ExAC,gnomAD rs776107197 14q11.2 14 22509355G> C null A P 6 6 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) ExAC,gnomAD rs776107197 14q11.2 14 22509355G> A null A T 6 6 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) ExAC,gnomAD rs750040929 14q11.2 14 22509359C> T null T I 7 7 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371431862 14q11.2 14 22509358A> T null T S 7 7 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) gnomAD rs1375150831 14q11.2 14 22509363C> A null N K 8 8 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) Ensembl rs932278795 14q11.2 14 22509366G> C null K N 9 9 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) gnomAD rs1389169824 14q11.2 14 22509367C> A null L I 10 10 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) ExAC,gnomAD rs758012356 14q11.2 14 22509370A> G null I V 11 11 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117501643 14q11.2 14 22509380C> T null T I 14 14 0.002796 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117501643 14q11.2 14 22509380C> G null T S 14 14 0.002796 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) TOPMed,gnomAD rs1038310626 14q11.2 14 22509383G> A null G D 15 15 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) TOPMed,gnomAD rs1038310626 14q11.2 14 22509383G> T null G V 15 15 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) ExAC,TOPMed rs755495024 14q11.2 14 22509394G> A null A T 19 19 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111457430 14q11.2 14 22509397G> A null V I 20 20 0.008187 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) ExAC,TOPMed,gnomAD rs748666044 14q11.2 14 22509400C> T null Q * 21 21 stop gained 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) gnomAD rs1479805207 14q11.2 14 22509404C> T null P L 22 22 missense 0.0 unknown 0 A0A075B6X3 TRAJ32 T cell receptor alpha joining 32 (Fragment) ExAC,TOPMed,gnomAD rs756221789 14q11.2 14 22509403C> A null P T 22 22 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) gnomAD rs1366084416 14q11.2 14 22515629C> A null S Y 3 3 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) gnomAD rs1406642304 14q11.2 14 22515631G> A null G R 4 4 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) gnomAD rs1281334399 14q11.2 14 22515634G> A null A T 5 5 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) gnomAD rs1366557131 14q11.2 14 22515638G> T null G V 6 6 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) gnomAD rs1308418999 14q11.2 14 22515641G> A null S N 7 7 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) ExAC,gnomAD rs748607443 14q11.2 14 22515643T> C null Y H 8 8 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) TOPMed rs1271208137 14q11.2 14 22515649C> A null L I 10 10 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) TOPMed rs992381760 14q11.2 14 22515650T> C null L P 10 10 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) gnomAD rs981115951 14q11.2 14 22515652A> G null T A 11 11 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) gnomAD rs981115951 14q11.2 14 22515652A> T null T S 11 11 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374877347 14q11.2 14 22515657C> A null F L 12 12 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) ExAC,gnomAD rs773665251 14q11.2 14 22515656T> A null F Y 12 12 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) ExAC,gnomAD rs774453593 14q11.2 14 22515659G> C null G A 13 13 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) ExAC,gnomAD rs774453593 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22515659G> A null G E 13 13 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) ExAC,gnomAD rs766420908 14q11.2 14 22515658G> A null G R 13 13 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) ExAC,gnomAD rs766420908 14q11.2 14 22515658G> T null G W 13 13 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) gnomAD rs1188725260 14q11.2 14 22515662A> T null K M 14 14 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) ExAC,gnomAD rs767837307 14q11.2 14 22515663G> T null K N 14 14 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) gnomAD rs1426415957 14q11.2 14 22515664G> A null G R 15 15 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) gnomAD rs1385269412 14q11.2 14 22515668C> T null T I 16 16 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) gnomAD rs1301152069 14q11.2 14 22515673C> T null L F 18 18 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) TOPMed,gnomAD rs1349296397 14q11.2 14 22515677C> T null S L 19 19 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) ExAC,TOPMed,gnomAD rs758462067 14q11.2 14 22515679G> A null V I 20 20 missense 0.0 unknown 0 A0A075B6X4 TRAJ28 T cell receptor alpha joining 28 (Fragment) ExAC,gnomAD rs751153003 14q11.2 14 22515685C> G null P A 22 22 missense 0.0 unknown 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 1000Genomes,ExAC,TOPMed,gnomAD rs565874672 14q11.2 14 22003217T> G null S A 3 3 2.0E-4 missense 0.062 benign 0.09 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 1000Genomes,ExAC,TOPMed,gnomAD rs565874672 14q11.2 14 22003217T> C null S P 3 3 2.0E-4 missense 0.015 benign 0.22 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 Ensembl rs978181414 14q11.2 14 22003224C> G null S C 5 5 missense 0.02 benign 0.02 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs761230061 14q11.2 14 22003227G> A null C Y 6 6 missense 0.048 benign 1.0 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed rs1490765054 14q11.2 14 22003229T> C null S P 7 7 missense 0.104 benign 0.2 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed,gnomAD rs1191780154 14q11.2 14 22003242T> C null I T 11 11 missense 0.121 benign 0.04 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs764139040 14q11.2 14 22003246G> T null L F 12 12 missense 0.106 benign 0.33 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed,gnomAD rs1473698708 14q11.2 14 22003248T> C null L S 13 13 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1161385630 14q11.2 14 22003253T> C null F L 15 15 missense 0.003 benign 1.0 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs776732273 14q11.2 14 22003255C> A null F L 15 15 missense 0.003 benign 1.0 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 Ensembl rs931274879 14q11.2 14 22003254T> C null F S 15 15 missense 0.037 benign 0.08 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 1000Genomes,NCI-TCGA rs571692266 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22003385G> A null R K 16 16 2.0E-4 missense 0.02 benign 0.5 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed rs1223783735 14q11.2 14 22003387A> G null R G 17 17 missense 0.0 benign 0.34 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs761822855 14q11.2 14 22003388G> A null R K 17 17 missense 0.007 benign 0.96 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs769921326 14q11.2 14 22003389G> C null R S 17 17 missense 0.034 benign 0.11 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs773300418 14q11.2 14 22003391C> T null T I 18 18 missense 0.331 benign 0.11 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed rs1312026345 14q11.2 14 22003393A> C null S R 19 19 missense 0.056 benign 0.19 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs763290931 14q11.2 14 22003394G> C null S T 19 19 missense 0.003 benign 0.06 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1307441519 14q11.2 14 22003397G> T null G V 20 20 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs767191529 14q11.2 14 22003403C> T null S L 22 22 missense 0.141 benign 0.02 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ESP,TOPMed rs374480948 14q11.2 14 22003405G> A null V I 23 23 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1256200830 14q11.2 14 22003411C> T null Q * 25 25 stop gained 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1346723060 14q11.2 14 22003412A> G null Q R 25 25 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed rs1343280708 14q11.2 14 22003421G> T null G V 28 28 missense 0.426 benign 0.02 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35674913 14q11.2 14 22003423C> G null P A 29 29 0.01318 missense 0.209 benign 0.53 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35674913 14q11.2 14 22003423C> T null P S 29 29 0.01318 missense 0.02 benign 0.49 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35674913 14q11.2 14 22003423C> A null P T 29 29 0.01318 missense 0.049 benign 0.44 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs756719201 14q11.2 14 22003432C> T null L F 32 32 missense 0.49 possibly damaging 0.02 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs778545560 14q11.2 14 22003433T> C null L P 32 32 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ESP,ExAC,TOPMed,gnomAD rs371085963 14q11.2 14 22003436C> T null P L 33 33 missense 0.001 benign 0.19 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs758111189 14q11.2 14 22003438G> T null E * 34 34 stop gained 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 Ensembl rs1011492729 14q11.2 14 22003439A> C null E A 34 34 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,NCI-TCGA,TOPMed,gnomAD rs779604623 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22003440G> C null E D 34 34 missense 0.422 benign 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs779604623 14q11.2 14 22003440G> T null E D 34 34 missense 0.422 benign 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs747325899 14q11.2 14 22003442G> T null R M 35 35 missense 0.009 benign 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs781612813 14q11.2 14 22003444G> A null A T 36 36 missense 0.031 benign 0.24 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ESP,ExAC,TOPMed,gnomAD rs376805899 14q11.2 14 22003448C> G null A G 37 37 missense 0.098 benign 0.34 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed,gnomAD rs1039781505 14q11.2 14 22003447G> A null A T 37 37 missense 0.003 benign 0.41 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 Ensembl rs967306060 14q11.2 14 22003462T> G null C G 42 42 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed,gnomAD rs977629422 14q11.2 14 22003465A> G null T A 43 43 missense 0.233 benign 0.02 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs747135167 14q11.2 14 22003469du p null Y * 44 44 stop gained 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs769747972 14q11.2 14 22003469A> G null Y C 44 44 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs769747972 14q11.2 14 22003469A> C null Y S 44 44 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs773386921 14q11.2 14 22003471C> T null Q * 45 45 stop gained 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs773386921 14q11.2 14 22003471C> G null Q E 45 45 missense 0.108 benign 0.3 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs771139661 14q11.2 14 22003475C> G null S C 46 46 missense 0.669 possibly damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed,gnomAD rs1054419517 14q11.2 14 22003478G> A null S N 47 47 missense 0.481 possibly damaging 0.01 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1219994098 14q11.2 14 22003481A> G null Y C 48 48 missense 0.917 probably damaging 0.16 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ESP,ExAC,TOPMed,gnomAD rs370801552 14q11.2 14 22003480T> C null Y H 48 48 missense 0.881 possibly damaging 0.49 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1219994098 14q11.2 14 22003481A> C null Y S 48 48 missense 0.124 benign 0.37 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 Ensembl rs1566401218 14q11.2 14 22003487C> T null T I 50 50 missense 0.003 benign 0.02 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs567902040 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22003492C> A null L I 52 52 2.0E-4 missense 0.105 benign 0.02 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 1000Genomes,ExAC,TOPMed,gnomAD rs567902040 14q11.2 14 22003492C> G null L V 52 52 2.0E-4 missense 0.077 benign 0.08 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs764622998 14q11.2 14 22003500G> A null W * 54 54 stop gained 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed rs1315811125 14q11.2 14 22003498T> C null W R 54 54 missense 0.801 possibly damaging 0.01 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed rs1397786913 14q11.2 14 22003504G> A null V I 56 56 missense 0.21 benign 0.13 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 1000Genomes,ExAC,TOPMed,gnomAD rs553725895 14q11.2 14 22003511A> T null Y F 58 58 0.001997 missense 0.073 benign 0.02 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1198959587 14q11.2 14 22003514T> C null L P 59 59 missense 0.003 benign 0.76 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs757871090 14q11.2 14 22003520A> T null K I 61 61 missense 0.16 benign 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ESP,ExAC,TOPMed,gnomAD rs373578678 14q11.2 14 22003525C> G null P A 63 63 missense 0.967 probably damaging 0.02 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ESP,ExAC,TOPMed,gnomAD rs373578678 14q11.2 14 22003525C> A null P T 63 63 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ESP,ExAC,TOPMed,gnomAD rs199893896 14q11.2 14 22003531C> T null L F 65 65 missense 0.149 benign 0.04 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed rs1423918145 14q11.2 14 22003532T> G null L R 65 65 missense 0.303 benign 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs781594440 14q11.2 14 22003544G> T null S I 69 69 missense 0.071 benign 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs781594440 14q11.2 14 22003544G> A null S N 69 69 missense 0.726 possibly damaging 0.01 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed,gnomAD rs1404787326 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 14q11.2 14 22003547C> A null S * 70 70 stop gained 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs183668286 14q11.2 14 22003551A> C null E D 71 71 missense 0.017 benign 0.46 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed,gnomAD rs1486819889 14q11.2 14 22003559A> G null E G 74 74 missense 0.001 benign 0.03 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs778172662 14q11.2 14 22003558G> C null E Q 74 74 missense 0.142 benign 0.07 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 NCI-TCGA,TOPMed rs749718916 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22003562C> T null T M 75 75 missense 0.017 benign 0.13 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1188297927 14q11.2 14 22003565A> G null D G 76 76 missense 0.003 benign 0.43 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed rs200991934 14q11.2 14 22003564G> A null D N 76 76 missense 0.003 benign 0.25 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs749337587 14q11.2 14 22003573G> T null G C 79 79 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1245431676 14q11.2 14 22003574G> T null G V 79 79 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs770924094 14q11.2 14 22003583C> A null A D 82 82 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs746155460 14q11.2 14 22003585A> T null S C 83 83 missense 0.753 possibly damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs768553606 14q11.2 14 22003592T> A null I N 85 85 missense 0.001 benign 0.44 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs768553606 14q11.2 14 22003592T> C null I T 85 85 missense 0.005 benign 0.54 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1489406879 14q11.2 14 22003591A> G null I V 85 85 missense 0.0 benign 0.58 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC rs776609205 14q11.2 14 22003595A> G null K R 86 86 missense 0.106 benign 0.08 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed rs761544058 14q11.2 14 22003598G> A null S N 87 87 missense 0.111 benign 0.09 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed,gnomAD rs1261137700 14q11.2 14 22003601A> G null D G 88 88 missense 0.011 benign 0.08 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed,gnomAD rs1261137700 14q11.2 14 22003601A> T null D V 88 88 missense 0.132 benign 0.05 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs765175308 14q11.2 14 22003606T> A null S T 90 90 missense 0.329 benign 0.06 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1167514248 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22003612C> T null H Y 92 92 missense 0.222 benign 0.03 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs762456624 14q11.2 14 22003616T> G null L R 93 93 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 Ensembl rs866354318 14q11.2 14 22003618G> T null E * 94 94 stop gained 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1174627146 14q11.2 14 22003625C> T null P L 96 96 missense 0.001 benign 0.14 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC rs765938108 14q11.2 14 22003628C> T null S L 97 97 missense 0.852 possibly damaging 0.02 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs751199742 14q11.2 14 22003631T> G null V G 98 98 missense 0.222 benign 0.02 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1401473862 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22003640C> T null S L 101 101 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed rs1404034856 14q11.2 14 22003642G> A null D N 102 102 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 TOPMed rs1366129695 14q11.2 14 22003643A> T null D V 102 102 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1396164183 14q11.2 14 22003648G> A null A T 104 104 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs866682239 14q11.2 14 22003649C> T null A V 104 104 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs778281720 14q11.2 14 22003651G> A null V M 105 105 missense 0.515 possibly damaging 0.09 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs779187546 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22003658A> G null Y C 107 107 missense 0.719 possibly damaging 0.01 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,TOPMed,gnomAD rs779187546 14q11.2 14 22003658A> C null Y S 107 107 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ESP,ExAC,TOPMed,gnomAD rs372013744 14q11.2 14 22003662C> A null C * 108 108 stop gained 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs746060889 14q11.2 14 22003660T> A null C S 108 108 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 gnomAD rs1241797714 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22003663G> A null A T 109 109 missense 0.345 benign 0.0 deleterious 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 ExAC,gnomAD rs775597420 14q11.2 14 22003664C> T null A V 109 109 missense 0.06 benign 0.08 tolerated 0 A0A075B6X5 TRAV18 T cell receptor alpha variable 18 1000Genomes,ExAC,TOPMed,gnomAD rs3811326 14q11.2 14 22003667T> C null L P 110 110 5.99E-4 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1308527608 14q11.2 14 22488595A> G null K E 2 2 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) TOPMed rs1298519431 14q11.2 14 22488597A> C null K N 2 2 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1207326260 14q11.2 14 22488596A> G null K R 2 2 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1482962977 14q11.2 14 22488602C> A null S Y 4 4 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377304974 14q11.2 14 22488606C> G null Y * 5 5 3.99E-4 stop gained 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) ExAC,TOPMed,gnomAD rs772736714 14q11.2 14 22488604T> C null Y H 5 5 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) ExAC,TOPMed,gnomAD rs772736714 14q11.2 14 22488604T> A null Y N 5 5 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs930694551 14q11.2 14 22488609C> A null D E 6 6 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369485111 14q11.2 14 22488607G> C null D H 6 6 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369485111 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22488607G> A null D N 6 6 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369485111 14q11.2 14 22488607G> T null D Y 6 6 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1410457762 14q11.2 14 22488614T> C null V A 8 8 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) TOPMed,gnomAD rs1423857133 14q11.2 14 22488613G> C null V L 8 8 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) TOPMed,gnomAD rs1423857133 14q11.2 14 22488613G> T null V L 8 8 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) ExAC,TOPMed,gnomAD rs761956676 14q11.2 14 22488617T> C null I T 9 9 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) ExAC,gnomAD rs770648021 14q11.2 14 22488623G> A null G E 11 11 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373655110 14q11.2 14 22488626C> T null P L 12 12 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373655110 14q11.2 14 22488626C> A null P Q 12 12 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1347556495 14q11.2 14 22488625C> T null P S 12 12 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1362822271 14q11.2 14 22488629G> A null G E 13 13 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1274333160 14q11.2 14 22488628G> A null G R 13 13 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1273160394 14q11.2 14 22488632C> A null T K 14 14 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1223626841 14q11.2 14 22488634A> G null S G 15 15 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1294412555 14q11.2 14 22488635G> T null S I 15 15 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) TOPMed,gnomAD rs1003557645 14q11.2 14 22488636C> A null S R 15 15 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) TOPMed,gnomAD rs1196384545 14q11.2 14 22488639A> T null L F 16 16 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1245609143 14q11.2 14 22488640T> G null S A 17 17 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1475482723 14q11.2 14 22488641C> T null S L 17 17 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) ExAC,gnomAD rs767488190 14q11.2 14 22488643G> A null V I 18 18 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) ExAC,gnomAD rs752113435 14q11.2 14 22488646A> T null I F 19 19 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) gnomAD rs1367290484 14q11.2 14 22488647T> A null I N 19 19 missense 0.0 unknown 0 A0A075B6X7 TRAJ50 T cell receptor alpha joining 50 (Fragment) Ensembl rs1566722296 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22488650C> T null P L 20 20 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1335086854 14q11.2 14 22494823A> G null N D 2 2 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) ExAC,TOPMed,gnomAD rs776260152 14q11.2 14 22494826A> G null T A 3 3 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1305327866 14q11.2 14 22494827C> T null T I 3 3 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1305327866 14q11.2 14 22494827C> A null T N 3 3 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1275562816 14q11.2 14 22494830G> A null G D 4 4 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375965726 14q11.2 14 22494829G> A null G S 4 4 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1275562816 14q11.2 14 22494830G> T null G V 4 4 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) ESP,ExAC,gnomAD rs368616504 14q11.2 14 22494833C> T null T I 5 5 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) ESP,ExAC,gnomAD rs368616504 14q11.2 14 22494833C> A null T N 5 5 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1249992073 14q11.2 14 22494835G> A null A T 6 6 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1452682967 14q11.2 14 22494836C> T null A V 6 6 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1196112610 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22494839G> T null S I 7 7 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1196112610 14q11.2 14 22494839G> A null S N 7 7 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1454069719 14q11.2 14 22494844C> T null L F 9 9 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1454069719 14q11.2 14 22494844C> G null L V 9 9 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) 1000Genomes,ExAC,gnomAD rs547860227 14q11.2 14 22494848C> T null T I 10 10 2.0E-4 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190451173 14q11.2 14 22494850T> A null F I 11 11 0.003395 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190451173 14q11.2 14 22494850T> C null F L 11 11 0.003395 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1441506279 14q11.2 14 22494854G> A null G E 12 12 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1395205279 14q11.2 14 22494853G> A null G R 12 12 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1327790623 14q11.2 14 22494857C> T null T I 13 13 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1368730451 14q11.2 14 22494860G> A null G E 14 14 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) Ensembl rs868725925 14q11.2 14 22494859G> A null G R 14 14 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1439819648 14q11.2 14 22494863C> T null T I 15 15 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) ExAC,TOPMed,gnomAD rs752988107 14q11.2 14 22494865A> G null R G 16 16 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) TOPMed,gnomAD rs1309479722 14q11.2 14 22494868C> T null L F 17 17 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1250812998 14q11.2 14 22494874G> T null V F 19 19 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) gnomAD rs1250812998 14q11.2 14 22494874G> A null V I 19 19 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76402200 14q11.2 14 22494878C> T null T M 20 20 0.02416 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) ExAC,gnomAD rs749776080 14q11.2 14 22494880C> T null L F 21 21 missense 0.0 unknown 0 A0A075B6X8 TRAJ44 T cell receptor alpha joining 44 (Fragment) ExAC,gnomAD rs749776080 14q11.2 14 22494880C> G null L V 21 21 missense 0.0 unknown 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) TOPMed,gnomAD rs904168416 14q11.2 14 22525654C> G null D E 2 2 missense 0.0 unknown 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) ExAC,TOPMed,gnomAD rs755110113 14q11.2 14 22525652G> A null D N 2 2 missense 0.0 unknown 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) TOPMed rs1333563678 14q11.2 14 22525657A> T null R S 3 3 missense 0.0 unknown 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) ExAC,TOPMed,gnomAD rs781226626 14q11.2 14 22525662C> A null S * 5 5 stop gained 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) gnomAD rs1203520605 14q11.2 14 22525665C> A null T N 6 6 missense 0.025 benign 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) Ensembl rs1566744378 14q11.2 14 22525667C> G null L V 7 7 missense 0.072 benign 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) ExAC,TOPMed,gnomAD rs745793642 14q11.2 14 22525673A> T null R W 9 9 missense 0.96 probably damaging 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) TOPMed rs930629911 14q11.2 14 22525685G> A null G R 13 13 missense 1.0 probably damaging 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) gnomAD rs1475120354 14q11.2 14 22525691G> A null G R 15 15 missense 1.0 probably damaging 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) ExAC,gnomAD rs772064456 14q11.2 14 22525694A> G null T A 16 16 missense 0.996 probably damaging 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) TOPMed,gnomAD rs1047750988 14q11.2 14 22525698A> G null Q R 17 17 missense 0.027 benign 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) ExAC,gnomAD rs775410469 14q11.2 14 22525706G> T null V F 20 20 missense 0.971 probably damaging 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) ExAC,gnomAD rs775410469 14q11.2 14 22525706G> C null V L 20 20 missense 0.59 possibly damaging 0 A0A075B6X9 TRAJ18 T cell receptor alpha joining 18 (Fragment) gnomAD rs1156255027 14q11.2 14 22525710G> A null W * 21 21 stop gained 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) TOPMed rs1488269637 14q11.2 14 22489496G> A null G D 4 4 missense 0.833 possibly damaging 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374819251 14q11.2 14 22489495G> A null G S 4 4 missense 0.243 benign 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) ExAC,gnomAD rs775552143 14q11.2 14 22489498A> G null N D 5 5 missense 0.078 benign 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) ExAC,gnomAD rs775552143 14q11.2 14 22489498A> T null N Y 5 5 missense 0.171 benign 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) gnomAD rs1257254214 14q11.2 14 22489503G> C null Q H 6 6 missense 0.007 benign 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) ExAC,TOPMed,gnomAD rs760540754 14q11.2 14 22489502A> T null Q L 6 6 missense 0.401 benign 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) ExAC,gnomAD rs763590636 14q11.2 14 22489507T> C null Y H 8 8 missense 0.105 benign 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) TOPMed,gnomAD rs1250960558 14q11.2 14 22489517C> T null T I 11 11 missense 0.607 possibly damaging 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) TOPMed,gnomAD rs1250960558 14q11.2 14 22489517C> G null T R 11 11 missense 0.007 benign 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) TOPMed,gnomAD rs1180253691 14q11.2 14 22489520G> C null G A 12 12 missense 0.999 probably damaging 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) TOPMed,gnomAD rs1180253691 14q11.2 14 22489520G> A null G E 12 12 missense 1.0 probably damaging 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) gnomAD rs1251309596 14q11.2 14 22489522A> T null T S 13 13 missense 0.999 probably damaging 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) ExAC,TOPMed,gnomAD rs753319147 14q11.2 14 22489525A> T null S C 14 14 missense 0.948 probably damaging 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) gnomAD rs1178256299 14q11.2 14 22489526G> A null S N 14 14 missense 0.858 possibly damaging 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) ExAC,TOPMed,gnomAD rs761507644 14q11.2 14 22489532C> T null T M 16 16 missense 0.993 probably damaging 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) gnomAD rs1372764377 14q11.2 14 22489534G> A null V I 17 17 missense 0.994 probably damaging 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) TOPMed,gnomAD rs1386991835 14q11.2 14 22489541C> T null P L 19 19 missense 1.0 probably damaging 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) TOPMed,gnomAD rs1386991835 14q11.2 14 22489541C> A null P Q 19 19 missense 1.0 probably damaging 0 A0A075B6Y0 TRAJ49 T cell receptor alpha joining 49 (Fragment) gnomAD rs1349428503 14q11.2 14 22489540C> T null P S 19 19 missense 0.999 probably damaging 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) ExAC,gnomAD rs754260544 14q11.2 14 22512854A> C null N H 2 2 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) TOPMed rs913759189 14q11.2 14 22512855A> C null N T 2 2 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) ExAC,gnomAD rs754260544 14q11.2 14 22512854A> T null N Y 2 2 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) gnomAD rs1476274190 14q11.2 14 22512858G> A null R K 3 3 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) ExAC,TOPMed,gnomAD rs762409290 14q11.2 14 22512859A> T null R S 3 3 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373094495 14q11.2 14 22512861A> C null D A 4 4 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373094495 14q11.2 14 22512861A> G null D G 4 4 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) gnomAD rs1396119152 14q11.2 14 22512860G> A null D N 4 4 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373094495 14q11.2 14 22512861A> T null D V 4 4 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) gnomAD rs1396119152 14q11.2 14 22512860G> T null D Y 4 4 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) TOPMed,gnomAD rs1364233559 14q11.2 14 22512865C> A null D E 5 5 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) TOPMed,gnomAD rs1364233559 14q11.2 14 22512865C> G null D E 5 5 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) TOPMed,gnomAD rs1305080708 14q11.2 14 22512863G> A null D N 5 5 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) ExAC,gnomAD rs758618015 14q11.2 14 22512869A> G null I V 7 7 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) Ensembl rs1000678718 14q11.2 14 22512872A> G null I V 8 8 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs545680452 14q11.2 14 22512876T> C null F S 9 9 5.99E-4 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) gnomAD rs1225711558 14q11.2 14 22512878G> C null G R 10 10 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) gnomAD rs1338421642 14q11.2 14 22512883A> T null K N 11 11 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) TOPMed rs1420586601 14q11.2 14 22512882A> G null K R 11 11 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) ExAC,gnomAD rs751782679 14q11.2 14 22512885G> A null G E 12 12 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) ExAC,gnomAD rs755859404 14q11.2 14 22512887A> G null T A 13 13 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) ExAC,TOPMed,gnomAD rs777642873 14q11.2 14 22512888C> T null T I 13 13 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs562685096 14q11.2 14 22512890C> T null R * 14 14 5.99E-4 stop gained 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) gnomAD rs866941373 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22512891G> A null R Q 14 14 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) ExAC,gnomAD rs770941154 14q11.2 14 22512893C> T null L F 15 15 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) TOPMed,gnomAD rs1445524660 14q11.2 14 22512897A> G null H R 16 16 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) gnomAD rs1031512563 14q11.2 14 22512902C> T null L F 18 18 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) gnomAD rs1383420519 14q11.2 14 22512906C> T null P L 19 19 missense 0.0 unknown 0 A0A075B6Y1 TRAJ30 T cell receptor alpha joining 30 (Fragment) TOPMed rs1209863146 14q11.2 14 22512905C> T null P S 19 19 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs767586620 14q11.2 14 22506645A> T null I L 2 2 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) ExAC,gnomAD rs752824617 14q11.2 14 22506647A> G null I M 2 2 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) ExAC,TOPMed rs756383556 14q11.2 14 22506654G> A null G R 5 5 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) ExAC,gnomAD rs764919231 14q11.2 14 22506655G> T null G V 5 5 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) ExAC,TOPMed rs756383556 14q11.2 14 22506654G> T null G W 5 5 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs373902490 14q11.2 14 22506669T> G null C G 10 10 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs373902490 14q11.2 14 22506669T> C null C R 10 10 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs200692061 14q11.2 14 22506672G> A null G R 11 11 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs549800237 14q11.2 14 22506678G> A null G S 13 13 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) gnomAD rs1162601553 14q11.2 14 22506682C> T null T I 14 14 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) ESP,ExAC,gnomAD rs372641957 14q11.2 14 22506685A> G null Q R 15 15 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) gnomAD rs1390088685 14q11.2 14 22506694T> G null V G 18 18 missense 0.0 unknown 0 A0A075B6Y2 TRAJ35 T cell receptor alpha joining 35 (non-functional) (Fragment) ExAC,gnomAD rs774772062 14q11.2 14 22506700C> G null P R 20 20 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 gnomAD rs1271432398 14q11.2 14 22543180G> A null G R 2 2 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 ExAC,gnomAD rs779443334 14q11.2 14 22543181G> T null G V 2 2 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 TOPMed rs1375659724 14q11.2 14 22543184A> C null Y S 3 3 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79064020 14q11.2 14 22543190G> T null S I 5 5 0.04892 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79064020 14q11.2 14 22543190G> A null S N 5 5 0.04892 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 TOPMed rs1390778817 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22543192G> A null A T 6 6 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 ExAC,gnomAD rs762956073 14q11.2 14 22543198A> G null K E 8 8 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 ESP,ExAC,gnomAD rs376720807 14q11.2 14 22543200G> C null K N 8 8 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 ExAC,TOPMed,gnomAD rs766573646 14q11.2 14 22543199A> G null K R 8 8 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 1000Genomes,ExAC,TOPMed,gnomAD rs552505855 14q11.2 14 22543204A> C null I L 10 10 2.0E-4 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 gnomAD rs1417218365 14q11.2 14 22543207T> C null F L 11 11 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 ExAC,gnomAD rs777605035 14q11.2 14 22543211G> C null G A 12 12 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 ExAC,gnomAD rs777605035 14q11.2 14 22543211G> A null G E 12 12 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 ExAC,gnomAD rs753772106 14q11.2 14 22543217G> A null G E 14 14 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 ExAC,gnomAD rs757120257 14q11.2 14 22543220C> T null T I 15 15 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 TOPMed rs1382762797 14q11.2 14 22543225C> T null L F 17 17 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113817685 14q11.2 14 22543235G> A null R Q 20 20 0.04892 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185171858 14q11.2 14 22543234C> T null R W 20 20 0.0 missense 0.0 unknown 0 A0A075B6Y3 TRAJ3 T cell receptor alpha joining 3 gnomAD rs1401850211 14q11.2 14 22543237C> A null P T 21 21 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs369457802 14q11.2 14 22525268C> A null Q K 3 3 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) gnomAD rs1279492847 14q11.2 14 22525277T> C null Y H 6 6 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs755814115 14q11.2 14 22525281A> G null N S 7 7 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) gnomAD rs1207245634 14q11.2 14 22525287C> T null T I 9 9 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) TOPMed rs1176899390 14q11.2 14 22525290T> C null F S 10 10 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) gnomAD rs1437033684 14q11.2 14 22525293G> T null G V 11 11 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) TOPMed rs1437728090 14q11.2 14 22525295A> C null K Q 12 12 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) 1000Genomes rs568113842 14q11.2 14 22525299G> A null G E 13 13 2.0E-4 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) ExAC,gnomAD rs754223591 14q11.2 14 22525298G> A null G R 13 13 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) ExAC,gnomAD rs754223591 14q11.2 14 22525298G> C null G R 13 13 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) gnomAD rs1466831549 14q11.2 14 22525301T> G null S A 14 14 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) ExAC,gnomAD rs746407874 14q11.2 14 22525308A> C null H P 16 16 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) ExAC rs779229914 14q11.2 14 22525307C> T null H Y 16 16 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs374166353 14q11.2 14 22525310A> G null N D 17 17 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) TOPMed rs1263256470 14q11.2 14 22525313G> A null V I 18 18 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) Ensembl rs886915304 14q11.2 14 22525316A> G null T A 19 19 missense 0.0 unknown 0 A0A075B6Y4 TRAJ19 T cell receptor alpha joining 19 (non-functional) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74038934 14q11.2 14 22525319C> T null P S 20 20 0.05052 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) gnomAD rs1329305561 14q11.2 14 22492855A> T null E D 2 2 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) gnomAD rs1271976302 14q11.2 14 22492854A> G null E G 2 2 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) ExAC,gnomAD rs777392592 14q11.2 14 22492856T> C null Y H 3 3 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113175686 14q11.2 14 22492859G> A null G R 4 4 0.008786 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) TOPMed,gnomAD rs1187911544 14q11.2 14 22492864C> G null N K 5 5 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) gnomAD rs1446370240 14q11.2 14 22492863A> C null N T 5 5 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) ExAC,TOPMed,gnomAD rs770608228 14q11.2 14 22492865A> G null K E 6 6 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) gnomAD rs1164538261 14q11.2 14 22492871G> A null V I 8 8 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) ExAC,gnomAD rs759244282 14q11.2 14 22492878G> C null G A 10 10 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) ExAC,gnomAD rs759244282 14q11.2 14 22492878G> A null G D 10 10 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111375426 14q11.2 14 22492880G> T null A S 11 11 0.004193 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111375426 14q11.2 14 22492880G> A null A T 11 11 0.004193 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) gnomAD rs1384806437 14q11.2 14 22492881C> T null A V 11 11 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) gnomAD rs1336556717 14q11.2 14 22492884G> A null G E 12 12 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) gnomAD rs1397128405 14q11.2 14 22492883G> A null G R 12 12 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) gnomAD rs1339138766 14q11.2 14 22492887C> T null T I 13 13 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) Ensembl rs755485768 14q11.2 14 22492889A> G null I V 14 14 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) gnomAD rs1265701557 14q11.2 14 22492896G> A null R K 16 16 missense 0.0 unknown 0 A0A075B6Y5 TRAJ47 T cell receptor alpha joining 47 (Fragment) gnomAD rs1265701557 14q11.2 14 22492896G> C null R T 16 16 missense 0.0 unknown 0 A0A075B6Y8 TRAJ11 T cell receptor alpha joining 11 (Fragment) gnomAD rs1385519220 14q11.2 14 22532508C> G null S * 3 3 stop gained 0 A0A075B6Y8 TRAJ11 T cell receptor alpha joining 11 (Fragment) ExAC,TOPMed,gnomAD rs749056936 14q11.2 14 22532520C> T null T I 7 7 missense 0.466 possibly damaging 0 A0A075B6Y8 TRAJ11 T cell receptor alpha joining 11 (Fragment) ExAC,TOPMed,gnomAD rs749056936 14q11.2 14 22532520C> A null T N 7 7 missense 0.167 benign 0 A0A075B6Y8 TRAJ11 T cell receptor alpha joining 11 (Fragment) gnomAD rs1359679394 14q11.2 14 22532519A> C null T P 7 7 missense 0.346 benign 0 A0A075B6Y8 TRAJ11 T cell receptor alpha joining 11 (Fragment) gnomAD rs1338749082 14q11.2 14 22532531G> A null G R 11 11 missense 0.998 probably damaging 0 A0A075B6Y8 TRAJ11 T cell receptor alpha joining 11 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs184924959 14q11.2 14 22532537G> C null G R 13 13 3.99E-4 missense 0.905 possibly damaging 0 A0A075B6Y8 TRAJ11 T cell receptor alpha joining 11 (Fragment) gnomAD rs1162428972 14q11.2 14 22532540A> G null T A 14 14 missense 0.997 probably damaging 0 A0A075B6Y8 TRAJ11 T cell receptor alpha joining 11 (Fragment) gnomAD rs1238624449 14q11.2 14 22532543A> G null M V 15 15 missense 0.0 benign 0 A0A075B6Y8 TRAJ11 T cell receptor alpha joining 11 (Fragment) gnomAD rs1211115719 14q11.2 14 22532552G> A null V I 18 18 missense 0.996 probably damaging 0 A0A075B6Y8 TRAJ11 T cell receptor alpha joining 11 (Fragment) gnomAD rs1396404531 14q11.2 14 22532559C> T null P L 20 20 missense 1.0 probably damaging 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 ExAC,gnomAD rs774159348 14q11.2 14 22496893A> G null Y C 3 3 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 TOPMed rs1223451332 14q11.2 14 22496904C> A null Q K 7 7 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 TOPMed rs1015502233 14q11.2 14 22496907G> A null G R 8 8 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 1000Genomes,ExAC,TOPMed,gnomAD rs143620583 14q11.2 14 22496911A> T null N I 9 9 2.0E-4 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 1000Genomes,ExAC,TOPMed,gnomAD rs143620583 14q11.2 14 22496911A> C null N T 9 9 2.0E-4 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 ExAC,gnomAD rs771956453 14q11.2 14 22496913C> A null L I 10 10 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 Ensembl rs765958828 14q11.2 14 22496916A> C null I L 11 11 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 Ensembl rs765958828 14q11.2 14 22496916A> G null I V 11 11 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 ESP rs368558375 14q11.2 14 22496920T> G null F C 12 12 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 gnomAD rs1305215298 14q11.2 14 22496919T> C null F L 12 12 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 ExAC,NCI-TCGA,TOPMed,gnomAD rs745680642 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22496922G> A null G R 13 13 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 ExAC,TOPMed,gnomAD rs776366140 14q11.2 14 22496928G> T null G C 15 15 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 gnomAD rs1469768035 14q11.2 14 22496929G> A null G D 15 15 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 ExAC,TOPMed,gnomAD rs776366140 14q11.2 14 22496928G> A null G S 15 15 missense 0.0 unknown 0 A0A075B6Y9 TRAJ42 T cell receptor alpha joining 42 Ensembl rs769759279 14q11.2 14 22496944T> C null V A 20 20 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) gnomAD rs1294709714 14q11.2 14 22522043C> A null S Y 2 2 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369219825 14q11.2 14 22522049G> A null G D 4 4 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) ExAC,TOPMed,gnomAD rs760476470 14q11.2 14 22522052C> T null S F 5 5 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) ExAC,TOPMed,gnomAD rs760476470 14q11.2 14 22522052C> A null S Y 5 5 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) gnomAD rs1268980585 14q11.2 14 22522054G> A null A T 6 6 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) ExAC,TOPMed,gnomAD rs757300387 14q11.2 14 22522057A> G null R G 7 7 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) TOPMed rs1392405744 14q11.2 14 22522060C> T null Q * 8 8 stop gained 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) ESP,TOPMed,gnomAD rs373577887 14q11.2 14 22522070T> G null F C 11 11 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) ESP,TOPMed,gnomAD rs373577887 14q11.2 14 22522070T> C null F S 11 11 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) ExAC,TOPMed,gnomAD rs769022649 14q11.2 14 22522078G> T null G W 14 14 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) TOPMed rs1180072554 14q11.2 14 22522082C> A null T K 15 15 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) TOPMed,gnomAD rs1391319504 14q11.2 14 22522084C> A null Q K 16 16 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) TOPMed,gnomAD rs968694194 14q11.2 14 22522090A> G null T A 18 18 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) gnomAD rs1383542811 14q11.2 14 22522093G> A null V I 19 19 missense 0.0 unknown 0 A0A075B6Z0 TRAJ22 T cell receptor alpha joining 22 (Fragment) gnomAD rs1383542811 14q11.2 14 22522093G> C null V L 19 19 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) gnomAD rs1303902138 14q11.2 14 22524328C> T null S F 2 2 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) gnomAD rs1430182587 14q11.2 14 22524327T> C null S P 2 2 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) gnomAD rs1430182587 14q11.2 14 22524327T> A null S T 2 2 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) gnomAD rs1303902138 14q11.2 14 22524328C> A null S Y 2 2 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) gnomAD rs1382022120 14q11.2 14 22524331A> T null N I 3 3 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) ExAC,TOPMed,gnomAD rs754525320 14q11.2 14 22524332C> G null N K 3 3 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371180876 14q11.2 14 22524333G> A null D N 4 4 2.0E-4 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) TOPMed,gnomAD rs1269695464 14q11.2 14 22524341G> C null K N 6 6 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) gnomAD rs1228564328 14q11.2 14 22524339A> C null K Q 6 6 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) Ensembl rs764850572 14q11.2 14 22524346G> C null S T 8 8 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) gnomAD rs1444777079 14q11.2 14 22524354G> A null A T 11 11 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) ExAC,TOPMed,gnomAD rs756432053 14q11.2 14 22524357G> A null G R 12 12 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141770037 14q11.2 14 22524361C> A null T N 13 13 0.002995 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) gnomAD rs1185715380 14q11.2 14 22524363A> G null T A 14 14 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) gnomAD rs1298773003 14q11.2 14 22524367T> C null V A 15 15 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) TOPMed,gnomAD rs1161639833 14q11.2 14 22524372G> A null V I 17 17 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368634706 14q11.2 14 22524378G> C null A P 19 19 3.99E-4 missense 0.0 unknown 0 A0A075B6Z1 TRAJ20 T cell receptor alpha joining 20 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368634706 14q11.2 14 22524378G> A null A T 19 19 3.99E-4 missense 0.0 unknown 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) TOPMed rs1409384417 14q11.2 14 22479531G> T null A S 5 5 missense 0.0 unknown 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) gnomAD rs1171742160 14q11.2 14 22479538G> A null S N 7 7 missense 0.0 unknown 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) ExAC,gnomAD rs749984553 14q11.2 14 22479547C> T null T I 10 10 missense 0.0 unknown 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) ExAC,gnomAD rs751945403 14q11.2 14 22479549T> A null F I 11 11 missense 0.0 unknown 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) ExAC,gnomAD rs751945403 14q11.2 14 22479549T> C null F L 11 11 missense 0.0 unknown 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) gnomAD rs1407318728 14q11.2 14 22479552G> A null G R 12 12 missense 0.0 unknown 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) gnomAD rs1345275544 14q11.2 14 22479558G> C null G R 14 14 missense 0.0 unknown 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) TOPMed rs1473677406 14q11.2 14 22479561A> G null I V 15 15 missense 0.0 unknown 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) gnomAD rs1308725762 14q11.2 14 22479573_22479574insAATAATTA T null V E* 19 19 stop gained 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) Ensembl rs988630951 14q11.2 14 22479573G> A null V I 19 19 missense 0.0 unknown 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) TOPMed rs1243505483 14q11.2 14 22479577G> A null R K 20 20 missense 0.0 unknown 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) gnomAD rs1224660645 14q11.2 14 22479577_22479578insTTATTCCTAA A null R S 20 20 stop gained 0 A0A075B6Z2 TRAJ56 T cell receptor alpha joining 56 (Fragment) gnomAD rs1250298926 14q11.2 14 22479579C> G null P A 21 21 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) TOPMed,gnomAD rs1384440128 14q11.2 14 22539081G> A null G E 4 4 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) Ensembl rs1566353263 14q11.2 14 22539080G> A null G R 4 4 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) Ensembl rs945318380 14q11.2 14 22539084G> T null G V 5 5 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) gnomAD rs1041186118 14q11.2 14 22539090A> G null Y C 7 7 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) gnomAD rs1041186118 14q11.2 14 22539090A> T null Y F 7 7 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) TOPMed rs1489544374 14q11.2 14 22539094A> G null I M 8 8 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) TOPMed,gnomAD rs1336192573 14q11.2 14 22539095C> G null P A 9 9 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) ExAC,TOPMed,gnomAD rs752048816 14q11.2 14 22539096C> A null P H 9 9 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) ExAC,TOPMed,gnomAD rs752048816 14q11.2 14 22539096C> T null P L 9 9 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) TOPMed,gnomAD rs1336192573 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22539095C> T null P S 9 9 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) gnomAD rs1452503341 14q11.2 14 22539102T> G null F C 11 11 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) Ensembl rs1028178173 14q11.2 14 22539103T> G null F L 11 11 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) ExAC,gnomAD rs781666392 14q11.2 14 22539107A> G null R G 13 13 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) gnomAD rs1379786151 14q11.2 14 22539108G> A null R K 13 13 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) ExAC,gnomAD rs748117714 14q11.2 14 22539110G> A null G R 14 14 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) ExAC,gnomAD rs748117714 14q11.2 14 22539110G> C null G R 14 14 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) ExAC,TOPMed,gnomAD rs769949909 14q11.2 14 22539114C> T null T I 15 15 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) ExAC,TOPMed,gnomAD rs769949909 14q11.2 14 22539114C> G null T S 15 15 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) TOPMed rs1230031724 14q11.2 14 22539116A> G null S G 16 16 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) ExAC,gnomAD rs749573921 14q11.2 14 22539120T> A null L H 17 17 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) Ensembl rs1566353329 14q11.2 14 22539119C> A null L I 17 17 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) ExAC,gnomAD rs771980080 14q11.2 14 22539128C> T null H Y 20 20 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) TOPMed,gnomAD rs1182897810 14q11.2 14 22539132C> T null P L 21 21 missense 0.0 unknown 0 A0A075B6Z3 TRAJ6 T cell receptor alpha joining 6 (Fragment) ExAC,gnomAD rs775497605 14q11.2 14 22539131C> T null P S 21 21 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) gnomAD rs373996412 14q11.2 14 22455255C> A null P H 3 3 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) ExAC,gnomAD rs758757645 14q11.2 14 22455254C> A null P T 3 3 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) ExAC,TOPMed,gnomAD rs780331007 14q11.2 14 22455261T> A null I N 5 5 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) ExAC,gnomAD rs747422242 14q11.2 14 22455267G> A null G D 7 7 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373624757 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22455273G> A null G E 9 9 2.0E-4 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) ExAC,TOPMed,gnomAD rs781666690 14q11.2 14 22455275A> G null T A 10 10 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) gnomAD rs1272033564 14q11.2 14 22455276C> T null T I 10 10 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) gnomAD rs1272033564 14q11.2 14 22455276C> A null T N 10 10 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) gnomAD rs1272033564 14q11.2 14 22455276C> G null T S 10 10 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) ExAC,gnomAD rs748170323 14q11.2 14 22455278T> C null Y H 11 11 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) gnomAD rs1413314479 14q11.2 14 22455285A> C null E A 13 13 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) ExAC,TOPMed,gnomAD rs769920370 14q11.2 14 22455286G> T null E D 13 13 missense 0.0 unknown 0 A0A075B6Z4 TRDJ4 T cell receptor delta joining 4 (Fragment) TOPMed rs1255240798 14q11.2 14 22455293C> T null Q * 16 16 stop gained 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) Ensembl rs773915949 14q11.2 14 22542208G> A null G D 4 4 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) ExAC,TOPMed,gnomAD rs757438778 14q11.2 14 22542211G> A null G D 5 5 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) ExAC,gnomAD rs779238980 14q11.2 14 22542229T> G null F C 11 11 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) ExAC,TOPMed,gnomAD rs746130906 14q11.2 14 22542230T> G null F L 11 11 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) 1000Genomes,ExAC,gnomAD rs561507845 14q11.2 14 22542234G> A null A T 13 13 3.99E-4 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) TOPMed rs1476473833 14q11.2 14 22542235C> T null A V 13 13 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) gnomAD rs1467023924 14q11.2 14 22542238G> A null G E 14 14 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) ExAC,TOPMed,gnomAD rs748026114 14q11.2 14 22542237G> A null G R 14 14 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) ExAC,gnomAD rs773036281 14q11.2 14 22542243A> G null R G 16 16 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) ExAC,gnomAD rs748746736 14q11.2 14 22542247T> C null L P 17 17 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) ExAC,gnomAD rs773973688 14q11.2 14 22542250C> G null A G 18 18 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374818816 14q11.2 14 22542249G> T null A S 18 18 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) ExAC,gnomAD rs759245546 14q11.2 14 22542252G> C null V L 19 19 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) ExAC,gnomAD rs767769908 14q11.2 14 22542256A> C null H P 20 20 missense 0.0 unknown 0 A0A075B6Z5 TRAJ4 T cell receptor alpha joining 4 (Fragment) 1000Genomes,TOPMed rs547323347 14q11.2 14 22542258C> A null P T 21 21 2.0E-4 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) gnomAD rs1183091161 14q11.2 14 22518818G> A null G E 3 3 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) gnomAD rs1366115593 14q11.2 14 22518820C> T null Q * 4 4 stop gained 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs533745552 14q11.2 14 22518824G> C null G A 5 5 0.002596 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) TOPMed rs1217847954 14q11.2 14 22518826T> C null F L 6 6 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs768648354 14q11.2 14 22518830C> T null S F 7 7 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs768648354 14q11.2 14 22518830C> A null S Y 7 7 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs776107428 14q11.2 14 22518835A> G null I V 9 9 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs780059476 14q11.2 14 22518839T> C null F S 10 10 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) gnomAD rs1399367210 14q11.2 14 22518842G> A null G E 11 11 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) gnomAD rs1395004896 14q11.2 14 22518845A> T null K M 12 12 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) gnomAD rs1352304927 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22518847G> A null G R 13 13 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) gnomAD rs1352304927 14q11.2 14 22518847G> T null G W 13 13 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) ESP,TOPMed,gnomAD rs374831178 14q11.2 14 22518851C> T null T I 14 14 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) ESP,TOPMed,gnomAD rs374831178 14q11.2 14 22518851C> A null T K 14 14 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs553613709 14q11.2 14 22518859C> T null L F 17 17 5.99E-4 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) ExAC,gnomAD rs772703836 14q11.2 14 22518862G> A null V I 18 18 missense 0.0 unknown 0 A0A075B6Z8 TRAJ25 T cell receptor alpha joining 25 (non-functional) (Fragment) gnomAD rs1253246903 14q11.2 14 22518868C> T null P S 20 20 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) ExAC,gnomAD rs748151586 14q11.2 14 22519972C> A null T K 2 2 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) ESP,ExAC,gnomAD rs375959518 14q11.2 14 22519984G> A null W * 6 6 stop gained 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368861936 14q11.2 14 22519985G> A null W * 6 6 stop gained 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368861936 14q11.2 14 22519985G> T null W C 6 6 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368861936 14q11.2 14 22519985G> C null W C 6 6 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142795661 14q11.2 14 22519987G> C null G A 7 7 3.99E-4 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142795661 14q11.2 14 22519987G> A null G E 7 7 3.99E-4 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) ESP,TOPMed,gnomAD rs370656497 14q11.2 14 22519986G> A null G R 7 7 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1483979 14q11.2 14 22519994C> G null F L 9 9 0.2204 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) TOPMed rs1406101363 14q11.2 14 22519992T> C null F L 9 9 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1483979 14q11.2 14 22519994C> A null F L 9 9 0.2204 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) gnomAD rs1385759615 14q11.2 14 22519995C> T null Q * 10 10 stop gained 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) gnomAD rs1406967754 14q11.2 14 22519997G> T null Q H 10 10 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) ExAC,TOPMed,gnomAD rs759910809 14q11.2 14 22519998T> C null F L 11 11 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) gnomAD rs1349032068 14q11.2 14 22520002G> A null G E 12 12 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs3811200 14q11.2 14 22520004G> T null A S 13 13 0.01717 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs3811200 14q11.2 14 22520004G> A null A T 13 13 0.01717 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) gnomAD rs1322803263 14q11.2 14 22520005C> T null A V 13 13 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) gnomAD rs1434437109 14q11.2 14 22520013C> T null Q * 16 16 stop gained 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) gnomAD rs1315765205 14q11.2 14 22520019G> T null V L 18 18 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) gnomAD rs1315765205 14q11.2 14 22520019G> A null V M 18 18 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) gnomAD rs1227042313 14q11.2 14 22520026C> T null T I 20 20 missense 0.0 unknown 0 A0A075B6Z9 TRAJ24 T cell receptor alpha joining 24 (Fragment) gnomAD rs1289803584 14q11.2 14 22520029C> T null P L 21 21 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 gnomAD rs1182861911 14q11.2 14 22510971A> G null N S 2 2 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 gnomAD rs1385465546 14q11.2 14 22510973A> T null N Y 3 3 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 ESP,ExAC,TOPMed,gnomAD rs368559911 14q11.2 14 22510980C> G null A G 5 5 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 TOPMed rs1169421782 14q11.2 14 22510979G> A null A T 5 5 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 gnomAD rs1384037263 14q11.2 14 22510983G> A null R K 6 6 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 ExAC,TOPMed,gnomAD rs769766679 14q11.2 14 22510985C> T null L F 7 7 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 ESP,ExAC,TOPMed,gnomAD rs372241515 14q11.2 14 22510989T> C null M T 8 8 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 1000Genomes rs146792020 14q11.2 14 22510991T> A null F I 9 9 3.99E-4 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 TOPMed rs1445878603 14q11.2 14 22510995G> C null G A 10 10 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 1000Genomes,ExAC,TOPMed,gnomAD rs117471476 14q11.2 14 22510997G> C null D H 11 11 0.003994 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 1000Genomes,ExAC,TOPMed,gnomAD rs117471476 14q11.2 14 22510997G> A null D N 11 11 0.003994 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 gnomAD rs1303255485 14q11.2 14 22511000G> A null G R 12 12 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 gnomAD rs1314668800 14q11.2 14 22511012G> T null V L 16 16 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 gnomAD rs1225548235 14q11.2 14 22511015G> A null V M 17 17 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 ExAC,TOPMed,gnomAD rs773831864 14q11.2 14 22511020G> C null K N 18 18 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 gnomAD rs1446996913 14q11.2 14 22511019A> G null K R 18 18 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 gnomAD rs1460287204 14q11.2 14 22511022C> T null P L 19 19 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 gnomAD rs1245305355 14q11.2 14 22511021C> T null P S 19 19 missense 0.0 unknown 0 A0A075B700 TRAJ31 T cell receptor alpha joining 31 gnomAD rs1245305355 14q11.2 14 22511021C> A null P T 19 19 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) gnomAD rs1312935609 14q11.2 14 22497665A> G null N S 4 4 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) gnomAD rs1283479969 14q11.2 14 22497671G> A null G E 6 6 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,TOPMed,gnomAD rs751939863 14q11.2 14 22497670G> A null G R 6 6 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,TOPMed,gnomAD rs751939863 14q11.2 14 22497670G> T null G W 6 6 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) 1000Genomes,ExAC,gnomAD rs571829954 14q11.2 14 22497675T> A null Y * 7 7 2.0E-4 stop gained 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) gnomAD rs1351332347 14q11.2 14 22497674A> G null Y C 7 7 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs909077 14q11.2 14 22497677C> A null A E 8 8 0.01677 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372573369 14q11.2 14 22497676G> A null A T 8 8 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs909077 14q11.2 14 22497677C> T null A V 8 8 0.01677 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,gnomAD rs779903289 14q11.2 14 22497683A> G null N S 10 10 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,gnomAD rs746883198 14q11.2 14 22497686T> G null F C 11 11 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,TOPMed,gnomAD rs747725386 14q11.2 14 22497689G> A null G D 12 12 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,TOPMed,gnomAD rs780816765 14q11.2 14 22497688G> A null G S 12 12 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,TOPMed,gnomAD rs747725386 14q11.2 14 22497689G> T null G V 12 12 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) Ensembl rs962798893 14q11.2 14 22497695G> A null G D 14 14 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373095312 14q11.2 14 22497698C> A null T N 15 15 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,gnomAD rs771155476 14q11.2 14 22497701C> T null S L 16 16 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,gnomAD rs771155476 14q11.2 14 22497701C> G null S W 16 16 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,gnomAD rs768055113 14q11.2 14 22497712A> G null T A 20 20 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,gnomAD rs752772406 14q11.2 14 22497713C> T null T I 20 20 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ExAC,gnomAD rs768055113 14q11.2 14 22497712A> C null T P 20 20 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139869325 14q11.2 14 22497716C> A null P H 21 21 0.001597 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139869325 14q11.2 14 22497716C> T null P L 21 21 0.001597 missense 0.0 unknown 0 A0A075B702 TRAJ41 T cell receptor alpha joining 41 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377388341 14q11.2 14 22497715C> A null P T 21 21 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) ExAC,gnomAD rs780581519 14q11.2 14 22478874A> G null T A 2 2 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) ExAC,gnomAD rs747453673 14q11.2 14 22478875C> T null T I 2 2 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) ExAC,gnomAD rs747453673 14q11.2 14 22478875C> G null T S 2 2 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373061742 14q11.2 14 22478881G> A null G D 4 4 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373061742 14q11.2 14 22478881G> T null G V 4 4 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) ExAC,TOPMed,gnomAD rs748313139 14q11.2 14 22478883G> T null G * 5 5 stop gained 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) ExAC,TOPMed,gnomAD rs748313139 14q11.2 14 22478883G> A null G R 5 5 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) ExAC,TOPMed,gnomAD rs748313139 14q11.2 14 22478883G> C null G R 5 5 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) gnomAD rs1287432712 14q11.2 14 22478887C> G null S C 6 6 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) ExAC,gnomAD rs769878798 14q11.2 14 22478886T> C null S P 6 6 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) TOPMed rs1304404851 14q11.2 14 22478890A> C null E A 7 7 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) ExAC,TOPMed,gnomAD rs773554187 14q11.2 14 22478893A> C null K T 8 8 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) ExAC,TOPMed,gnomAD rs554036238 14q11.2 14 22478903T> G null F L 11 11 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) gnomAD rs1361594486 14q11.2 14 22478904G> A null G R 12 12 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) gnomAD rs1446010837 14q11.2 14 22478910G> A null G R 14 14 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1872159 14q11.2 14 22478914C> T null T M 15 15 0.1841 missense 0.0 unknown 0 A0A075B704 TRAJ57 T cell receptor alpha joining 57 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1872159 14q11.2 14 22478914C> G null T R 15 15 0.1841 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 ExAC,TOPMed,gnomAD rs760794281 14q11.2 14 22450091A> G null T A 2 2 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 ESP,ExAC,TOPMed,gnomAD rs368564232 14q11.2 14 22450094G> A null D N 3 3 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 ESP,ExAC,TOPMed,gnomAD rs368564232 14q11.2 14 22450094G> T null D Y 3 3 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 gnomAD rs1283802828 14q11.2 14 22450097A> C null K Q 4 4 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 TOPMed rs1203977544 14q11.2 14 22450107T> C null F S 7 7 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 ExAC,gnomAD rs765467725 14q11.2 14 22450109G> A null G R 8 8 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 gnomAD rs1225469279 14q11.2 14 22450119C> T null T I 11 11 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 ExAC,TOPMed,gnomAD rs751316131 14q11.2 14 22450121C> T null R C 12 12 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 ExAC,gnomAD rs759256889 14q11.2 14 22450122G> A null R H 12 12 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 ExAC,gnomAD rs759256889 14q11.2 14 22450122G> C null R P 12 12 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 Ensembl rs1566691896 14q11.2 14 22450128C> T null T I 14 14 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 ExAC,TOPMed,gnomAD rs755647151 14q11.2 14 22450130G> C null V L 15 15 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 ExAC,TOPMed,gnomAD rs753522570 14q11.2 14 22450133G> T null E * 16 16 stop gained 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 ExAC,TOPMed,gnomAD rs753522570 14q11.2 14 22450133G> C null E Q 16 16 missense 0.0 unknown 0 A0A075B706 TRDJ1 T cell receptor delta joining 1 gnomAD rs1470317574 14q11.2 14 22450137C> T null P L 17 17 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) ESP rs370276672 14q11.2 14 22475319A> T null Y F 2 2 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs776638574 14q11.2 14 22475321C> G null R G 3 3 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs757181928 14q11.2 14 22475322G> A null R Q 3 3 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs776638574 14q11.2 14 22475321C> T null R W 3 3 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) TOPMed rs1279771769 14q11.2 14 22475324G> C null V L 4 4 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs778977055 14q11.2 14 22475330A> G null R G 6 6 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) gnomAD rs1333876346 14q11.2 14 22475331G> A null R K 6 6 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) TOPMed rs1344360552 14q11.2 14 22475334A> G null K R 7 7 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) gnomAD rs1446989747 14q11.2 14 22475337T> A null L Q 8 8 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs745742170 14q11.2 14 22475340C> T null T I 9 9 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) gnomAD rs1313820432 14q11.2 14 22475343T> C null F S 10 10 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) gnomAD rs1238862852 14q11.2 14 22475345G> A null G R 11 11 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) gnomAD rs866857960 14q11.2 14 22475348G> C null A P 12 12 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) gnomAD rs866857960 14q11.2 14 22475348G> A null A T 12 12 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) gnomAD rs1346992593 14q11.2 14 22475349C> T null A V 12 12 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs771907492 14q11.2 14 22475355C> T null T I 14 14 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs536236096 14q11.2 14 22475358G> A null R K 15 15 2.0E-4 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs372627278 14q11.2 14 22475359A> C null R S 15 15 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) gnomAD rs1199724079 14q11.2 14 22475361G> A null G E 16 16 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) gnomAD rs1457354759 14q11.2 14 22475360G> A null G R 16 16 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) gnomAD rs1248559521 14q11.2 14 22475365C> G null I M 17 17 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) TOPMed rs1432357176 14q11.2 14 22475364T> A null I N 17 17 missense 0.0 unknown 0 A0A075B708 TRAJ61 T cell receptor alpha joining 61 (non-functional) (Fragment) TOPMed,gnomAD rs1477298181 14q11.2 14 22475367T> A null M K 18 18 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) TOPMed rs926302339 14q11.2 14 22531082C> T null S F 3 3 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) ExAC,TOPMed,gnomAD rs749272760 14q11.2 14 22531088G> C null G A 5 5 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373815730 14q11.2 14 22531087G> T null G C 5 5 2.0E-4 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) ExAC,TOPMed,gnomAD rs749272760 14q11.2 14 22531088G> A null G D 5 5 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373815730 14q11.2 14 22531087G> A null G S 5 5 2.0E-4 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) ExAC,TOPMed,gnomAD rs749272760 14q11.2 14 22531088G> T null G V 5 5 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) gnomAD rs1234752819 14q11.2 14 22531095G> C null Q H 7 7 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) ExAC,TOPMed,gnomAD rs774396148 14q11.2 14 22531096A> G null K E 8 8 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) ExAC rs746134984 14q11.2 14 22531098A> T null K N 8 8 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) ExAC,gnomAD rs768547707 14q11.2 14 22531100T> C null V A 9 9 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) gnomAD rs1216404445 14q11.2 14 22531103C> T null T I 10 10 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) gnomAD rs1216404445 14q11.2 14 22531103C> A null T N 10 10 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) ExAC,TOPMed,gnomAD rs776623631 14q11.2 14 22531106T> C null F S 11 11 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) ExAC,gnomAD rs761838485 14q11.2 14 22531109G> A null G E 12 12 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) gnomAD rs1487173563 14q11.2 14 22531108G> A null G R 12 12 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs227003 14q11.2 14 22531112C> T null T I 13 13 0.1881 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) ExAC,gnomAD rs762316629 14q11.2 14 22531117A> G null T A 15 15 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372873555 14q11.2 14 22531118C> G null T R 15 15 3.99E-4 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) TOPMed rs1400226586 14q11.2 14 22531127A> G null Q R 18 18 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) gnomAD rs1161881967 14q11.2 14 22531129G> A null V I 19 19 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) ExAC,gnomAD rs759246990 14q11.2 14 22531132A> G null I V 20 20 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs547750947 14q11.2 14 22531136C> T null P L 21 21 2.0E-4 missense 0.0 unknown 0 A0A075B709 TRAJ13 T cell receptor alpha joining 13 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs547750947 14q11.2 14 22531136C> G null P R 21 21 2.0E-4 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) ExAC,gnomAD rs745483078 14q11.2 14 22501605T> G null N K 2 2 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) gnomAD rs1262059519 14q11.2 14 22501604A> G null N S 2 2 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs570571719 14q11.2 14 22501606A> G null N D 3 3 2.0E-4 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) ExAC,gnomAD rs780376774 14q11.2 14 22501607A> C null N T 3 3 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) ExAC,TOPMed,gnomAD rs747442639 14q11.2 14 22501613C> G null A G 5 5 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) Ensembl rs1555370687 14q11.2 14 22501616G> A null G D 6 6 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) TOPMed,gnomAD rs979353251 14q11.2 14 22501623G> C null M I 8 8 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) TOPMed,gnomAD rs979353251 14q11.2 14 22501623G> A null M I 8 8 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) ExAC,TOPMed,gnomAD rs769029348 14q11.2 14 22501621A> T null M L 8 8 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) ExAC,gnomAD rs748606588 14q11.2 14 22501622T> C null M T 8 8 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) ExAC,TOPMed,gnomAD rs769029348 14q11.2 14 22501621A> G null M V 8 8 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) ExAC,TOPMed,gnomAD rs376865761 14q11.2 14 22501627A> G null T A 10 10 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) ExAC,gnomAD rs773444933 14q11.2 14 22501634G> C null G A 12 12 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) gnomAD rs1301236198 14q11.2 14 22501637G> A null G E 13 13 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) gnomAD rs1301236198 14q11.2 14 22501637G> T null G V 13 13 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) gnomAD rs1379063035 14q11.2 14 22501639G> T null G * 14 14 stop gained 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) ExAC,gnomAD rs763241353 14q11.2 14 22501640G> A null G E 14 14 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) ExAC,gnomAD rs771315894 14q11.2 14 22501642A> G null T A 15 15 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) TOPMed rs1444501468 14q11.2 14 22501653G> C null M I 18 18 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) 1000Genomes,gnomAD rs539607750 14q11.2 14 22501651A> G null M V 18 18 2.0E-4 missense 0.0 unknown 0 A0A075B710 TRAJ39 T cell receptor alpha joining 39 (Fragment) TOPMed,gnomAD rs1284794508 14q11.2 14 22501655T> C null V A 19 19 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) 1000Genomes rs549687321 14q11.2 14 22513945C> A null S * 3 3 2.0E-4 stop gained 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) 1000Genomes rs529542068 14q11.2 14 22513944T> A null S T 3 3 2.0E-4 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) ExAC,gnomAD rs762197874 14q11.2 14 22513954C> A null T K 6 6 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) gnomAD rs1407247650 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22513963T> C null V A 9 9 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) TOPMed rs1185613652 14q11.2 14 22513966T> C null F S 10 10 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) gnomAD rs1380208081 14q11.2 14 22513969G> C null G A 11 11 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) gnomAD rs1338279451 14q11.2 14 22513968G> A null G R 11 11 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) TOPMed rs1473353286 14q11.2 14 22513972A> G null K R 12 12 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) TOPMed rs1252157496 14q11.2 14 22513975G> T null G V 13 13 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) ESP,TOPMed,gnomAD rs376297456 14q11.2 14 22513983C> T null L F 16 16 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) ESP,TOPMed,gnomAD rs376297456 14q11.2 14 22513983C> G null L V 16 16 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) 1000Genomes,ExAC,gnomAD rs534739173 14q11.2 14 22513987C> A null S Y 17 17 2.0E-4 missense 0.0 unknown 0 A0A075B711 TRAJ29 T cell receptor alpha joining 29 (Fragment) Ensembl rs957598960 14q11.2 14 22513995G> T null A S 20 20 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) TOPMed,gnomAD rs1454159335 14q11.2 14 22482290T> G null I S 2 2 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) Ensembl rs867424977 14q11.2 14 22482292C> T null Q * 3 3 stop gained 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) TOPMed rs1340034512 14q11.2 14 22482294G> C null Q H 3 3 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) ExAC,gnomAD rs747944064 14q11.2 14 22482293A> T null Q L 3 3 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) gnomAD rs1224288339 14q11.2 14 22482296G> A null G E 4 4 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) gnomAD rs1309550410 14q11.2 14 22482299C> G null A G 5 5 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs532064315 14q11.2 14 22482298G> T null A S 5 5 2.0E-4 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) gnomAD rs1314974536 14q11.2 14 22482308T> C null L P 8 8 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) gnomAD rs1264041429 14q11.2 14 22482314T> G null F C 10 10 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) ExAC,gnomAD rs773352906 14q11.2 14 22482313T> C null F L 10 10 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) TOPMed,gnomAD rs974453895 14q11.2 14 22482325A> G null T A 14 14 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372960297 14q11.2 14 22482326C> T null T I 14 14 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372960297 14q11.2 14 22482326C> A null T N 14 14 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) TOPMed rs935787754 14q11.2 14 22482332T> C null L P 16 16 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) TOPMed,gnomAD rs913088757 14q11.2 14 22482335C> T null T I 17 17 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) TOPMed,gnomAD rs913088757 14q11.2 14 22482335C> A null T N 17 17 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) ExAC,TOPMed,gnomAD rs773998568 14q11.2 14 22482334A> T null T S 17 17 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) ESP,TOPMed,gnomAD rs200746549 14q11.2 14 22482344C> G null P R 20 20 missense 0.0 unknown 0 A0A075B712 TRAJ54 T cell receptor alpha joining 54 (Fragment) TOPMed,gnomAD rs942436292 14q11.2 14 22482343C> T null P S 20 20 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) gnomAD rs1284612366 14q11.2 14 22545044A> G null S G 4 4 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs754506371 14q11.2 14 22545047A> G null I V 5 5 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs146345663 14q11.2 14 22545050A> G null T A 6 6 2.0E-4 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) gnomAD rs1251759263 14q11.2 14 22545051C> T null T I 6 6 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs752382774 14q11.2 14 22545053T> G null S A 7 7 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376174534 14q11.2 14 22545054C> T null S F 7 7 2.0E-4 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs368908060 14q11.2 14 22545056C> A null Q K 8 8 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) TOPMed rs1480902410 14q11.2 14 22545062C> T null Q * 10 10 stop gained 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) Ensembl rs1566357365 14q11.2 14 22545069G> T null G V 12 12 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs117145755 14q11.2 14 22545078C> T null T I 15 15 2.0E-4 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs180980591 14q11.2 14 22545077A> C null T P 15 15 7.99E-4 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) Ensembl rs1000689494 14q11.2 14 22545080A> G null R G 16 16 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) gnomAD rs1171488197 14q11.2 14 22545081G> A null R K 16 16 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) gnomAD rs1171488197 14q11.2 14 22545081G> C null R T 16 16 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74602097 14q11.2 14 22545090C> T null T I 19 19 0.04513 missense 0.0 unknown 0 A0A075B713 TRAJ1 T cell receptor alpha joining 1 (non-functional) (Fragment) ExAC,gnomAD rs775616936 14q11.2 14 22545095C> T null P S 21 21 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) gnomAD rs1220720674 14q11.2 14 22537627A> G null Y C 3 3 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) gnomAD rs1341319598 14q11.2 14 22537626T> C null Y H 3 3 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) gnomAD rs1276361331 14q11.2 14 22537630G> T null G V 4 4 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) gnomAD rs1229388226 14q11.2 14 22537634C> A null N K 5 5 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188228762 14q11.2 14 22537633A> G null N S 5 5 7.99E-4 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) ExAC,gnomAD rs756927542 14q11.2 14 22537642T> G null L R 8 8 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) ESP,ExAC,TOPMed,gnomAD rs370149052 14q11.2 14 22537644G> A null A T 9 9 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) gnomAD rs1216740027 14q11.2 14 22537655G> T null K N 12 12 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) ExAC,gnomAD rs758811032 14q11.2 14 22537656G> A null G R 13 13 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) ExAC,gnomAD rs758811032 14q11.2 14 22537656G> T null G W 13 13 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) ExAC,gnomAD rs780497368 14q11.2 14 22537660A> T null N I 14 14 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) TOPMed rs1173494538 14q11.2 14 22537671G> A null V I 18 18 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) ExAC,TOPMed,gnomAD rs747553335 14q11.2 14 22537677C> T null P S 20 20 missense 0.0 unknown 0 A0A075B714 TRAJ7 T cell receptor alpha joining 7 (Fragment) ExAC,TOPMed,gnomAD rs747553335 14q11.2 14 22537677C> A null P T 20 20 missense 0.0 unknown 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145684232 14q12 14 24178128G> A null R H 2 2 0.006789 missense 0.707 possibly damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145684232 14q12 14 24178128G> T null R L 2 2 0.006789 missense 0.186 benign 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs771161793 14q12 14 24178130C> T null R C 3 3 missense 0.809 possibly damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs774612019 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24178131G> A null R H 3 3 missense 0.742 possibly damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs774612019 14q12 14 24178131G> T null R L 3 3 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs561000270 14q12 14 24178133C> T null R C 4 4 missense 0.911 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs768735719 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24178134G> A null R H 4 4 missense 0.04 benign 0.06 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs768735719 14q12 14 24178134G> T null R L 4 4 missense 0.028 benign 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375099298 14q12 14 24178137G> T null R L 5 5 2.0E-4 missense 0.038 benign 0.03 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375099298 14q12 14 24178137G> C null R P 5 5 2.0E-4 missense 0.075 benign 0.03 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375099298 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24178137G> A null R Q 5 5 2.0E-4 missense 0.0 benign 0.94 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs370698508 14q12 14 24178136C> T null R W 5 5 missense 0.594 possibly damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1212186778 14q12 14 24178139T> G null L V 6 6 missense 0.967 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs762555872 14q12 14 24178159G> T null E D 12 12 missense 0.932 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs773044687 14q12 14 24178158A> G null E G 12 12 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1178790127 14q12 14 24178157G> C null E Q 12 12 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs751095408 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24178164A> G null Q R 14 14 missense 0.958 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs867449754 14q12 14 24178170C> T null S F 16 16 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs199922301 14q12 14 24178173C> T null P L 17 17 2.0E-4 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs778046197 14q12 14 24178177G> C null E D 18 18 missense 0.57 possibly damaging 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1387585115 14q12 14 24178190C> G null Q E 23 23 missense 0.327 benign 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1343727654 14q12 14 24178199A> C null T P 26 26 missense 0.054 benign 0.08 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1241821512 14q12 14 24178205G> A null A T 28 28 missense 0.971 probably damaging 0.05 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1223058675 14q12 14 24178209A> G null H R 29 29 missense 0.734 possibly damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1302468495 14q12 14 24178211T> C null C R 30 30 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1308058591 14q12 14 24178218A> C null E A 32 32 missense 0.937 probably damaging 0.13 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs1275240268 14q12 14 24178220T> C null C R 33 33 missense 0.952 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs368398899 14q12 14 24178221G> A null C Y 33 33 missense 0.976 probably damaging 0.09 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1316930084 14q12 14 24178610T> C null M T 35 35 missense 0.258 benign 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs866153254 14q12 14 24178612G> A null V M 36 36 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs538915000 14q12 14 24178619C> T null P L 38 38 3.99E-4 missense 1.0 probably damaging 0.11 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs200926587 14q12 14 24178624G> A null E K 40 40 2.0E-4 missense 0.41 benign 0.09 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1242027089 14q12 14 24178629G> T null R S 41 41 missense 0.79 possibly damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1462187061 14q12 14 24178635C> G null I M 43 43 missense 0.929 probably damaging 0.17 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1241710486 14q12 14 24178639G> A null G S 45 45 missense 0.028 benign 1.0 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1410510130 14q12 14 24178645G> T null A S 47 47 missense 0.406 benign 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201409905 14q12 14 24178646C> T null A V 47 47 3.99E-4 missense 0.054 benign 0.03 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1387760460 14q12 14 24178656C> G null F L 50 50 missense 0.132 benign 0.34 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs766663838 14q12 14 24178661C> T null T I 52 52 missense 0.646 possibly damaging 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs766663838 14q12 14 24178661C> A null T N 52 52 missense 0.399 benign 0.12 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs370763234 14q12 14 24178666A> G null T A 54 54 missense 0.175 benign 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs1566636585 14q12 14 24178780G> A null G D 57 57 missense 0.32 benign 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs758121872 14q12 14 24178779G> C null G R 57 57 missense 0.965 probably damaging 0.06 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs758121872 14q12 14 24178779G> A null G S 57 57 missense 0.748 possibly damaging 0.08 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed rs746729095 14q12 14 24178788C> A null P T 60 60 missense 0.966 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs905054000 14q12 14 24178791C> A null P T 61 61 missense 0.272 benign 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs768168816 14q12 14 24178794G> C null E Q 62 62 missense 0.881 possibly damaging 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1158818312 14q12 14 24178801T> A null L Q 64 64 missense 0.993 probably damaging 0.11 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1178172552 14q12 14 24178819G> A null C Y 70 70 missense 0.976 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs952183132 14q12 14 24178821G> C null A P 71 71 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs747615352 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24178831C> T null P L 74 74 missense 0.109 benign 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs770440827 14q12 14 24178833C> G null P A 75 75 missense 0.174 benign 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs773792400 14q12 14 24178834C> T null P L 75 75 missense 0.261 benign 0.03 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs770440827 14q12 14 24178833C> A null P T 75 75 missense 0.917 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1284738266 14q12 14 24178842C> T null L F 78 78 missense 0.93 probably damaging 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs749657278 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24178849G> A null R Q 80 80 missense 0.115 benign 0.16 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs774558496 14q12 14 24178851G> C null E Q 81 81 missense 0.352 benign 0.16 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1300780855 14q12 14 24178855T> C null L P 82 82 missense 0.014 benign 0.32 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs759844614 14q12 14 24178864A> C null E A 85 85 missense 0.174 benign 0.06 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs767596349 14q12 14 24178866G> C null A P 86 86 missense 0.935 probably damaging 0.26 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs374592961 14q12 14 24178872G> C null A P 88 88 missense 0.215 benign 0.13 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs374592961 14q12 14 24178872G> A null A T 88 88 missense 0.23 benign 0.1 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs758445548 14q12 14 24178875G> A null E K 89 89 missense 0.954 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1361919790 14q12 14 24178878G> A null E K 90 90 missense 0.953 probably damaging 0.03 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs1566636869 14q12 14 24178885G> A null R K 92 92 missense 0.155 benign 0.11 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs758251368 14q12 14 24178888G> A null R K 93 93 missense 0.219 benign 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs201586333 14q12 14 24178894T> C null I T 95 95 missense 0.003 benign 0.67 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs773281134 14q12 14 24178899G> A null V I 97 97 missense 0.018 benign 0.17 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1243845226 14q12 14 24178908G> A null E K 100 100 missense 0.755 possibly damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs779227972 14q12 14 24179089C> T null P L 104 104 missense 0.014 benign 0.22 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1198565603 14q12 14 24179098C> A null A D 107 107 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1462475654 14q12 14 24179097G> A null A T 107 107 missense 0.514 possibly damaging 0.03 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed rs772382519 14q12 14 24179107C> G null P R 110 110 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1183286252 14q12 14 24179110G> A null S N 111 111 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1183286252 14q12 14 24179110G> C null S T 111 111 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1458638778 14q12 14 24179113T> C null V A 112 112 missense 0.015 benign 0.05 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) dbSNP,gnomAD rs17855369 pubmed:15489334 14q12 14 24179112G> T null V F 112 112 missense 0.357 benign 0.07 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs17855369 14q12 14 24179112G> A null V I 112 112 missense 0.113 benign 1.0 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1472514826 14q12 14 24179122T> C null M T 115 115 missense 0.712 possibly damaging 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1177786472 14q12 14 24179131T> C null L S 118 118 missense 0.0 benign 0.62 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1409021522 14q12 14 24179133G> A null E K 119 119 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs373995199 14q12 14 24179401C> G null I M 120 120 missense 0.564 possibly damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1197892483 14q12 14 24179420G> A null E K 127 127 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,NCI-TCGA,gnomAD rs541776858 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24179423G> A null E K 128 128 2.0E-4 missense 0.96 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs377353947 14q12 14 24179427A> G null K R 129 129 missense 0.209 benign 0.28 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs748399051 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24179432C> T null R C 131 131 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs769823637 14q12 14 24179433G> A null R H 131 131 missense 0.514 possibly damaging 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs773319545 14q12 14 24179439G> A null S N 133 133 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1282580847 14q12 14 24179451C> A null P Q 137 137 missense 0.923 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1392656723 14q12 14 24179450C> T null P S 137 137 missense 0.155 benign 0.08 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs759436815 14q12 14 24179453G> A null E K 138 138 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1292860785 14q12 14 24179456G> C null E Q 139 139 missense 0.971 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs775450894 14q12 14 24179460G> C null R P 140 140 missense 0.995 probably damaging 0.05 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs775450894 14q12 14 24179460G> A null R Q 140 140 missense 0.981 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs561304496 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24179459C> T null R W 140 140 2.0E-4 missense 0.997 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs889446790 14q12 14 24179597C> T null A V 142 142 missense 0.155 benign 0.07 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1385465833 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24179605G> A null E K 145 145 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1192872940 14q12 14 24179615C> T null A V 148 148 missense 0.003 benign 0.37 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs898014436 14q12 14 24179618C> T null P L 149 149 missense 0.132 benign 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs764903037 14q12 14 24179620G> A null E K 150 150 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1223827757 14q12 14 24179624C> T null A V 151 151 missense 0.012 benign 0.65 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1470095485 14q12 14 24179635C> G null P A 155 155 missense 0.999 probably damaging 0.08 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs762389628 14q12 14 24179638G> A null V M 156 156 missense 0.335 benign 0.17 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1308376887 14q12 14 24179645C> G null P R 158 158 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1374872236 14q12 14 24179653C> T null P S 161 161 missense 0.999 probably damaging 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1226102052 14q12 14 24179656G> A null E K 162 162 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371804350 14q12 14 24179659G> C null V L 163 163 2.0E-4 missense 0.174 benign 0.26 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371804350 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24179659G> A null V M 163 163 2.0E-4 missense 0.396 benign 0.08 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs753070309 14q12 14 24179662C> G null P A 164 164 missense 0.174 benign 0.03 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1297121919 14q12 14 24179663C> G null P R 164 164 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs753070309 14q12 14 24179662C> T null P S 164 164 missense 0.804 possibly damaging 0.17 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs1566638268 14q12 14 24179665A> T null M L 165 165 missense 0.015 benign 0.62 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs756316686 14q12 14 24179668G> A null E K 166 166 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs139641571 14q12 14 24179673G> A null M I 167 167 2.0E-4 missense 0.029 benign 0.13 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1205478724 14q12 14 24179671A> T null M L 167 167 missense 0.007 benign 0.71 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1482101982 14q12 14 24179674C> A null P T 168 168 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs771199294 14q12 14 24179680G> A null V M 170 170 missense 0.854 possibly damaging 0.03 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1422807774 14q12 14 24179699A> G null E G 176 176 missense 0.132 benign 0.09 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,gnomAD rs377231807 14q12 14 24179698G> A null E K 176 176 missense 0.465 possibly damaging 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,gnomAD rs377231807 14q12 14 24179698G> C null E Q 176 176 missense 0.977 probably damaging 0.11 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs980317297 14q12 14 24179704C> A null L I 178 178 missense 0.661 possibly damaging 0.13 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs927307846 14q12 14 24179705T> C null L P 178 178 missense 0.127 benign 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1201760222 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q12 14 24179711T> G null L R 180 180 missense 0.498 possibly damaging 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs761619102 14q12 14 24179713G> A null E K 181 181 missense 0.954 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs369785855 14q12 14 24179716G> A null A T 182 182 missense 0.837 possibly damaging 0.32 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1346644855 14q12 14 24179723A> C null H P 184 184 missense 0.947 probably damaging 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1292867921 14q12 14 24179807G> T null A S 188 188 missense 0.954 probably damaging 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs773877656 14q12 14 24179810C> G null L V 189 189 missense 0.051 benign 0.09 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1208188713 14q12 14 24179815G> T null E D 190 190 missense 0.045 benign 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1451000998 14q12 14 24179823C> G null A G 193 193 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1216183412 14q12 14 24179825A> C null N H 194 194 missense 0.976 probably damaging 0.03 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1219161610 14q12 14 24179831G> A null E K 196 196 missense 0.091 benign 0.03 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs922425060 14q12 14 24179839C> A null D E 198 198 missense 0.96 probably damaging 0.08 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs947912168 14q12 14 24179837G> C null D H 198 198 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs947912168 14q12 14 24179837G> A null D N 198 198 missense 0.533 possibly damaging 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1045000253 14q12 14 24179844G> A null S N 200 200 missense 0.132 benign 0.17 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,gnomAD rs370759703 14q12 14 24179852G> C null V L 203 203 2.0E-4 missense 0.283 benign 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,gnomAD rs370759703 14q12 14 24179852G> A null V M 203 203 2.0E-4 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1430563519 14q12 14 24179856C> T null S L 204 204 missense 0.054 benign 0.09 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,TOPMed,gnomAD rs369868779 14q12 14 24179858C> T null P S 205 205 missense 0.747 possibly damaging 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,gnomAD rs542057973 14q12 14 24179864A> G null S G 207 207 2.0E-4 missense 0.995 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC rs754220168 14q12 14 24179865G> A null S N 207 207 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1386906058 14q12 14 24179866C> G null S R 207 207 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1386906058 14q12 14 24179866C> A null S R 207 207 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs889456505 14q12 14 24179867C> T null P S 208 208 missense 0.421 benign 0.37 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs889456505 14q12 14 24179867C> A null P T 208 208 missense 0.885 possibly damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs201131372 14q12 14 24179870C> T null R C 209 209 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs765505808 14q12 14 24179871G> A null R H 209 209 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs750544471 14q12 14 24179883C> T null A V 213 213 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs758434563 14q12 14 24179886G> A null R Q 214 214 missense 0.292 benign 0.07 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1258016918 14q12 14 24179885C> T null R W 214 214 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1283700893 14q12 14 24179892T> C null F S 216 216 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1256911774 14q12 14 24179896C> A null Y * 217 217 stop gained 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs148643420 14q12 14 24179895A> G null Y C 217 217 2.0E-4 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs148643420 14q12 14 24179895A> T null Y F 217 217 2.0E-4 missense 0.998 probably damaging 0.07 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs748167792 14q12 14 24179913G> T null C F 223 223 missense 0.762 possibly damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1204928274 14q12 14 24179912T> C null C R 223 223 missense 0.405 benign 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs748167792 14q12 14 24179913G> A null C Y 223 223 missense 0.762 possibly damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs777576344 14q12 14 24179917G> T null M I 224 224 missense 0.02 benign 0.07 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs777576344 14q12 14 24179917G> C null M I 224 224 missense 0.02 benign 0.07 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs755975232 14q12 14 24179915A> G null M V 224 224 missense 0.001 benign 0.12 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed rs749034932 14q12 14 24179919A> G null H R 225 225 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs537127387 14q12 14 24179922T> C null V A 226 226 2.0E-4 missense 0.056 benign 0.07 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs537127387 14q12 14 24179922T> G null V G 226 226 2.0E-4 missense 0.166 benign 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs770586678 14q12 14 24179921G> A null V M 226 226 missense 0.588 possibly damaging 0.02 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs372833258 14q12 14 24179927G> A null V M 228 228 missense 0.53 possibly damaging 0.01 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1007800578 14q12 14 24179935G> A null M I 230 230 missense 0.015 benign 0.07 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs761279913 14q12 14 24179933A> T null M L 230 230 missense 0.0 benign 0.64 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs761279913 14q12 14 24179933A> G null M V 230 230 missense 0.0 benign 0.23 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1161988348 14q12 14 24179938G> A null W * 231 231 stop gained 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1410461013 14q12 14 24179951G> A null E K 236 236 missense 0.007 benign 0.05 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1422453786 14q12 14 24179954A> C null T P 237 237 missense 0.501 possibly damaging 0.09 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1245405329 14q12 14 24179958G> A null R K 238 238 missense 0.011 benign 0.42 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,TOPMed,gnomAD rs142040563 14q12 14 24179964C> T null P L 240 240 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,TOPMed,gnomAD rs142040563 14q12 14 24179964C> A null P Q 240 240 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs762210672 14q12 14 24179969A> G null R G 242 242 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1230357907 14q12 14 24179971G> T null R S 242 242 missense 0.118 benign 0.1 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1327033422 14q12 14 24179976C> T null S F 244 244 missense 0.179 benign 0.18 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202088503 14q12 14 24179981G> A null D N 246 246 2.0E-4 missense 0.0 benign 0.43 tolerated - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs766522572 14q12 14 24179987C> T null P S 248 248 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs766522572 14q12 14 24179987C> A null P T 248 248 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs751554206 14q12 14 24179991C> G null S C 249 249 missense 0.827 possibly damaging 0.04 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs777633723 14q12 14 24179997G> A null R H 251 251 missense 0.356 benign 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs753639978 14q12 14 24180003T> G null L W 253 253 missense 0.941 probably damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1286966716 14q12 14 24180008A> T null S C 255 255 missense 0.848 possibly damaging 0.0 deleterious - low confidence 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1376078999 14q12 14 24180012C> T null A V 256 256 missense 0.691 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs552406292 14q12 14 24180020G> A null A T 259 259 2.0E-4 missense 0.691 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs771590672 14q12 14 24180024C> G null T R 260 260 missense 0.711 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs779642513 14q12 14 24180030C> T null S F 262 262 missense 0.692 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,gnomAD rs574899082 14q12 14 24180035C> T null R C 264 264 2.0E-4 missense 0.833 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs769299580 14q12 14 24180050G> C null A P 269 269 missense 0.826 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1456617005 14q12 14 24180056T> C null W R 271 271 missense 0.788 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs777211905 14q12 14 24180060C> T null S L 272 272 missense 0.514 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs374010286 14q12 14 24180062C> T null P S 273 273 missense 0.81 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1343520805 14q12 14 24180066C> T null P L 274 274 missense 0.856 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1439411634 14q12 14 24180071C> T null P S 276 276 missense 0.81 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs770338744 14q12 14 24180075C> G null A G 277 277 missense 0.578 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs763270288 14q12 14 24180077G> A null G R 278 278 missense 0.98 probably damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs766464041 14q12 14 24180089C> A null P T 282 282 missense 0.81 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1221769151 14q12 14 24180095A> G null R G 284 284 missense 0.3 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs1555352298 14q12 14 24180099T> C null L S 285 285 missense 0.773 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs956448127 14q12 14 24180101G> A null E K 286 286 missense 0.497 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs878856185 14q12 14 24180105C> T null S F 287 287 missense 0.692 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs1168395130 14q12 14 24180108T> C null I T 288 288 missense 0.3 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs779919167 14q12 14 24180107_24180111du p null Y * 289 289 stop gained 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1313057878 14q12 14 24180111A> G null Y C 289 289 missense 0.883 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1198633050 14q12 14 24180120C> T null A V 292 292 missense 0.691 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs759549808 14q12 14 24180123G> A null R K 293 293 missense 0.146 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs759549808 14q12 14 24180123G> C null R T 293 293 missense 0.412 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs372852976 14q12 14 24180129C> T null P L 295 295 missense 0.856 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs757167272 14q12 14 24180138C> G null S C 298 298 missense 0.848 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs778717822 14q12 14 24180144A> C null K T 300 300 missense 0.617 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs758088389 14q12 14 24180149C> T null R C 302 302 missense 0.0 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs779514559 14q12 14 24180150G> A null R H 302 302 missense 0.067 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs746532831 14q12 14 24180152C> T null R C 303 303 missense 0.088 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) Ensembl rs1566639412 14q12 14 24180153G> A null R H 303 303 missense 0.0 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1267709613 14q12 14 24180159C> T null S L 305 305 missense 0.514 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs780835045 14q12 14 24180158T> C null S P 305 305 missense 0.514 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1403164150 14q12 14 24180162T> C null L P 306 306 missense 0.887 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs770387502 14q12 14 24180161C> G null L V 306 306 missense 0.578 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,gnomAD rs531823084 14q12 14 24180165G> C null G A 307 307 2.0E-4 missense 0.902 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs183161120 14q12 14 24180168C> T null P L 308 308 0.001398 missense 0.0 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs771192524 14q12 14 24180171C> T null A V 309 309 missense 0.691 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs774507508 14q12 14 24180174A> G null Y C 310 310 missense 0.883 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs759743941 14q12 14 24180180T> C null I T 312 312 missense 0.3 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,gnomAD rs568707414 14q12 14 24180188T> A null C S 315 315 2.0E-4 missense 0.3 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1268843599 14q12 14 24180191G> A null A T 316 316 missense 0.691 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs933772529 14q12 14 24180198C> T null P L 318 318 missense 0.856 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs775514345 14q12 14 24180197C> T null P S 318 318 missense 0.81 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs761767696 14q12 14 24180200G> T null A S 319 319 missense 0.578 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs758061425 14q12 14 24180204T> C null F S 320 320 missense 0.514 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,gnomAD rs750242580 14q12 14 24180203T> G null F V 320 320 missense 0.514 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs62001573 14q12 14 24180208G> T null L F 321 321 7.99E-4 missense 0.773 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1314262190 14q12 14 24180213C> G null S * 323 323 stop gained 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) gnomAD rs1314262190 14q12 14 24180213C> T null S L 323 323 missense 0.514 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs751313539 14q12 14 24180218C> A null L I 325 325 missense 0.578 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) ExAC,TOPMed,gnomAD rs780882093 14q12 14 24180241C> A null S R 332 332 missense 0.514 possibly damaging 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed rs1197617369 14q12 14 24180240G> C null S T 332 332 missense 0.302 benign 0 A0A075B715 REC8 Meiotic recombination protein REC8 homolog (Fragment) TOPMed,gnomAD rs1207271796 14q12 14 24180252A> G null Y C 336 336 missense 0.883 possibly damaging 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1264808031 15q25.2 15 82540086A> G null I T 17 17 missense 0.155 benign 0.21 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 Ensembl rs970335901 15q25.2 15 82540073G> T null Y * 21 21 stop gained 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed,gnomAD rs1259511112 15q25.2 15 82540058G> C null N K 26 26 missense 0.467 possibly damaging 0.33 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed,gnomAD rs1427897146 15q25.2 15 82540059T> C null N S 26 26 missense 0.219 benign 0.44 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 Ensembl rs1804365 15q25.2 15 82540041T> C null K R 32 32 missense 0.686 possibly damaging 0.03 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs11552835 15q25.2 15 82540039G> A null R C 33 33 missense 0.039 benign 0.1 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs11552835 15q25.2 15 82540039G> T null R S 33 33 missense 0.184 benign 0.04 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 Ensembl,dbSNP rs1043734 15q25.2 15 82540030C> T null E K 36 36 missense 0.436 benign 0.16 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1331264876 15q25.2 15 82540024T> C null I V 38 38 missense 0.155 benign 0.42 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 Ensembl rs1031566468 15q25.2 15 82540014A> G null I T 41 41 missense 0.933 probably damaging 0.02 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1272613776 15q25.2 15 82540001C> G null K N 45 45 missense 0.276 benign 0.02 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1444963393 15q25.2 15 82540003T> G null K Q 45 45 missense 0.413 benign 0.01 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 Ensembl rs12689 15q25.2 15 82539993T> C null N S 48 48 missense 0.219 benign 0.04 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 Ensembl rs968377128 15q25.2 15 82539987A> G null I T 50 50 missense 0.219 benign 0.02 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed,dbSNP rs6991 [ClinVar]: Diamond-Blackfan anemia 4, [Ensembl]: Diamond-blackfan anemia 4 (dba4) pubmed:23718193 15q25.2 15 82538982A> C null Y * 53 53 stop gained 0 Diamond-Blackfan anemia 4 (DBA4) Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50% of affected individuals, and growth retardation in 30% of affected individuals. MIM:612527 pubmed:20301769,ClinVar:RCV000087020 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1222131687 15q25.2 15 82538981C> T null V I 54 54 missense 0.954 probably damaging 0.1 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 Ensembl rs1804359 15q25.2 15 82538944A> G null V A 66 66 missense 0.261 benign 0.01 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 Ensembl rs958956510 15q25.2 15 82538893T> C null N S 83 83 missense 0.219 benign 0.02 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1167462890 15q25.2 15 82538371C> T null V I 88 88 missense 0.279 benign 0.09 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1245799286 15q25.2 15 82538041A> G null L P 110 110 missense 0.035 benign 0.03 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1286241225 15q25.2 15 82538039C> G null A P 111 111 missense 0.024 benign 0.1 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs906252492 15q25.2 15 82538033C> T null V I 113 113 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1466660379 15q25.2 15 82538030C> A null A S 114 114 missense 0.01 benign 0.09 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1045948933 15q25.2 15 82538029G> A null A V 114 114 missense 0.0 benign 0.68 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs946196048 15q25.2 15 82538026G> A null P L 115 115 missense 0.856 possibly damaging 0.02 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs946196048 15q25.2 15 82538026G> C null P R 115 115 missense 0.908 possibly damaging 0.03 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1472050317 15q25.2 15 82538021C> A null V L 117 117 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1159683919 15q25.2 15 82538015C> A null A S 119 119 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1651959 15q25.2 15 82538000C> G null A P 124 124 missense 0.02 benign 0.08 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1651959 15q25.2 15 82538000C> T null A T 124 124 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1402814776 15q25.2 15 82537999G> A null A V 124 124 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1396734368 15q25.2 15 82537981T> C null K R 130 130 missense 0.0 benign 0.52 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1336222030 15q25.2 15 82537978G> A null A V 131 131 missense 0.691 possibly damaging 0.6 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1348907260 15q25.2 15 82537972A> C null L R 133 133 missense 0.887 possibly damaging 0.0 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1331596877 15q25.2 15 82537966C> T null C Y 135 135 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1255998214 15q25.2 15 82537946C> T null E K 142 142 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs921921214 15q25.2 15 82537941C> T null M I 143 143 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs964872013 15q25.2 15 82536876G> A null R W 152 152 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1235925355 15q25.2 15 82536873G> T null Q K 153 153 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 Ensembl rs1017741554 15q25.2 15 82536860G> T null P H 157 157 missense 0.351 benign 0.0 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1294733104 15q25.2 15 82536861G> A null P S 157 157 missense 0.019 benign 0.0 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1804362 15q25.2 15 82536852G> C null H D 160 160 missense 0.003 benign 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1804362 15q25.2 15 82536852G> A null H Y 160 160 missense 0.02 benign 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1008996512 15q25.2 15 82536819C> G null A P 171 171 missense 0.826 possibly damaging 0.0 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1008996512 15q25.2 15 82536819C> T null A T 171 171 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs890715598 15q25.2 15 82536806C> G null C S 175 175 missense 0.0 benign 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs890715598 15q25.2 15 82536806C> T null C Y 175 175 missense 0.0 benign 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1469738496 15q25.2 15 82536791C> A null C F 180 180 missense 0.0 benign 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1026948232 15q25.2 15 82536782A> T null V E 183 183 missense 0.141 benign 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1171317148 15q25.2 15 82536770A> C null I R 187 187 missense 0.0 unknown 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1449105142 15q25.2 15 82536771T> C null I V 187 187 missense 0.0 unknown 0 A0A075B716 RPS17 40S ribosomal protein S17 TOPMed rs1374998203 15q25.2 15 82536762C> A null G * 190 190 stop gained 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs752833460 15q21.1 15 44651640G> C null T S 2 2 missense 0.117 benign 0.5 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ESP,ExAC,TOPMed,gnomAD rs368773832 15q21.1 15 44651637G> A null A V 3 3 missense 0.071 benign 0.17 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1393683770 15q21.1 15 44651632A> G null F L 5 5 missense 0.999 probably damaging 0.18 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs751899498 15q21.1 15 44651628G> T null T N 6 6 missense 0.586 possibly damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl rs1036385500 15q21.1 15 44651626A> G null W R 7 7 missense 0.029 benign 0.3 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed,dbSNP rs1453401298 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44651623C> T null E K 8 8 missense 0.001 benign 0.64 tolerated 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000799731 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1168881411 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 15q21.1 15 44651616T> C null E G 10 10 missense 0.018 benign 0.38 tolerated 1 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs766770788 15q21.1 15 44651614T> C null R G 11 11 missense 0.005 benign 0.37 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs763340734 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 44651613C> A null R M 11 11 missense 0.038 benign 0.11 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1460081112 15q21.1 15 44651609C> T null M I 12 12 missense 0.005 benign 0.13 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1443148219 15q21.1 15 44651608C> T null G S 13 13 missense 0.042 benign 0.14 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1324788293 15q21.1 15 44651601G> A null T I 15 15 missense 0.248 benign 0.01 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl rs796921512 15q21.1 15 44651599_44651600in v null I V 16 16 missense 0 A0A075B718 SPG11 Spatacsin (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3759873 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44651599T> C null I V 16 16 0.03894 missense 0.024 benign 0.74 tolerated 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000476292 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1300918596 15q21.1 15 44651596T> C null T A 17 17 missense 0.0 benign 1.0 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl,dbSNP rs1567190879 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44651595G> A null T I 17 17 missense 0.001 benign 0.07 tolerated 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000701998 A0A075B718 SPG11 Spatacsin (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141396952 15q21.1 15 44651593G> A null L F 18 18 2.0E-4 missense 0.149 benign 0.1 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs776275517 15q21.1 15 44651592A> G null L P 18 18 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs776275517 15q21.1 15 44651592A> C null L R 18 18 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl rs1050577462 15q21.1 15 44651575G> C null Q E 24 24 missense 0.041 benign 0.09 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed,dbSNP rs1296643524 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44651567C> T null M I 26 26 missense 0.001 benign 0.18 tolerated 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000690366 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl,dbSNP rs932177370 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44651564C> A null Q H 27 27 missense 0.067 benign 0.08 tolerated 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000531513 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs3759872 15q21.1 15 44651562C> A null C F 28 28 missense 0.18 benign 0.46 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ESP,ExAC,TOPMed,gnomAD rs139019255 15q21.1 15 44651563A> G null C R 28 28 missense 0.007 benign 0.26 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs3759872 15q21.1 15 44651562C> T null C Y 28 28 missense 0.003 benign 1.0 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3759871 [ClinVar]: Spastic paraplegia 11, autosomal recessive pubmed:11347906,pubmed:15489334 15q21.1 15 44651559A> G null F S 29 29 0.4748 missense 0.363 benign 0.28 tolerated 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000034172 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1250862529 15q21.1 15 44651557A> C null S A 30 30 missense 0.012 benign 0.51 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1241027939 15q21.1 15 44651551C> G null G R 32 32 missense 0.887 possibly damaging 0.02 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ESP,ExAC,TOPMed,gnomAD rs369352026 15q21.1 15 44651547G> A null T I 33 33 missense 0.15 benign 0.05 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,TOPMed,gnomAD rs778657038 15q21.1 15 44651542A> G null C R 35 35 missense 0.099 benign 0.08 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed,gnomAD rs1177534936 15q21.1 15 44651541C> T null C Y 35 35 missense 0.16 benign 0.15 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs748171215 15q21.1 15 44651518C> T null D N 43 43 missense 0.007 benign 0.04 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed,gnomAD rs1226110412 15q21.1 15 44651515G> C null Q E 44 44 missense 0.005 benign 0.66 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed,gnomAD rs1226110412 15q21.1 15 44651515G> T null Q K 44 44 missense 0.012 benign 0.31 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs142428867 [ClinVar]: Spastic paraplegia 11, autosomal recessive, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 44651514T> C null Q R 44 44 missense 0.287 benign 0.33 tolerated 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000801269 A0A075B718 SPG11 Spatacsin (Fragment) ESP,ExAC,TOPMed,gnomAD rs377499551 15q21.1 15 44651510C> A null Q H 45 45 missense 0.914 probably damaging 0.14 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1431644940 15q21.1 15 44651509G> C null L V 46 46 missense 0.769 possibly damaging 0.11 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1175241068 15q21.1 15 44649009T> G null N H 53 53 missense 0.601 possibly damaging 0.3 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1469470863 15q21.1 15 44649005C> A null G V 54 54 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1384102732 15q21.1 15 44648999G> C null S C 56 56 missense 0.114 benign 0.07 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1384102732 15q21.1 15 44648999G> A null S F 56 56 missense 0.412 benign 0.25 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs754327285 15q21.1 15 44648997G> C null L V 57 57 missense 0.839 possibly damaging 0.18 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1335908433 15q21.1 15 44648993A> C null I S 58 58 missense 0.662 possibly damaging 0.04 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl rs1451998025 15q21.1 15 44648987A> C null F C 60 60 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1213215428 15q21.1 15 44648984C> G null G A 61 61 missense 0.495 possibly damaging 0.03 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1335700728 15q21.1 15 44648980C> G null L F 62 62 missense 0.183 benign 0.09 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,dbSNP,gnomAD rs312262728 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44648976G> A null Q * 64 64 stop gained 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000034301 A0A075B718 SPG11 Spatacsin (Fragment) dbSNP,gnomAD rs1060501175 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44648965A> C null F L 67 67 missense 0.268 benign 0.56 tolerated 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000472822 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1280593905 15q21.1 15 44648966A> G null F S 67 67 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1373088184 15q21.1 15 44648967A> C null F V 67 67 missense 0.833 possibly damaging 0.1 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs752258108 15q21.1 15 44648955G> A null L F 71 71 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1324614993 15q21.1 15 44648954A> C null L R 71 71 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1396176709 15q21.1 15 44648950C> G null M I 72 72 missense 0.999 probably damaging 0.19 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1242343501 15q21.1 15 44648945T> C null H R 74 74 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1418238531 15q21.1 15 44648942C> T null G E 75 75 missense 0.998 probably damaging 0.1 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1408459133 15q21.1 15 44648939C> T null S N 76 76 missense 0.162 benign 0.09 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs976041926 15q21.1 15 44648933C> T null S N 78 78 missense 0.875 possibly damaging 0.07 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1178807612 15q21.1 15 44648931T> C null T A 79 79 missense 0.615 possibly damaging 0.09 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1201598107 15q21.1 15 44648925C> T null D N 81 81 missense 0.422 benign 0.07 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1452495306 15q21.1 15 44648921G> A null T I 82 82 missense 0.007 benign 0.03 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed,gnomAD rs1394096118 15q21.1 15 44648915C> T null C Y 84 84 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) 1000Genomes,ExAC,dbSNP,gnomAD rs557277528 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44648910G> A null L F 86 86 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000318542 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,TOPMed,dbSNP,gnomAD rs770720509 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44648907T> C null N D 87 87 missense 1.0 probably damaging 0.0 deleterious 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000702776 A0A075B718 SPG11 Spatacsin (Fragment) ESP,ExAC,TOPMed,dbSNP,gnomAD rs143528472 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44648906T> C null N S 87 87 missense 1.0 probably damaging 0.0 deleterious 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000797041 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,dbSNP,gnomAD rs773146881 15q21.1 15 44648897C> T null G E 90 90 missense 0.238 benign 0.27 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1238362916 15q21.1 15 44648898C> T null G R 90 90 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs747090735 15q21.1 15 44648895T> C null R G 91 91 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed,dbSNP,gnomAD rs1242845025 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44648893C> A null R S 91 91 missense 0.996 probably damaging 0.0 deleterious 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000808077 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs775608667 15q21.1 15 44648892A> C null C G 92 92 missense 0.996 probably damaging 0.05 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1176215064 15q21.1 15 44648891C> T null C Y 92 92 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1440947266 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q21.1 15 44648888G> A null S L 93 93 missense 0.222 benign 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs772262768 15q21.1 15 44648889A> G null S P 93 93 missense 0.222 benign 0.01 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl rs964345865 15q21.1 15 44648882G> A null P L 95 95 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1372562122 15q21.1 15 44648883G> A null P S 95 95 missense 0.868 possibly damaging 0.02 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs746138256 15q21.1 15 44648880T> G null I L 96 96 missense 0.046 benign 0.1 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs779031089 15q21.1 15 44648879A> G null I T 96 96 missense 0.691 possibly damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,dbSNP,gnomAD rs746138256 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44648880T> C null I V 96 96 missense 0.046 benign 0.11 tolerated 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000804351 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs757589840 15q21.1 15 44648876T> A null H L 97 97 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs749625555 15q21.1 15 44648873G> A null A V 98 98 missense 0.073 benign 0.08 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,dbSNP,gnomAD rs778355918 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44648867T> C null E G 100 100 missense 0.925 probably damaging 0.0 deleterious 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000806040 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs781770229 15q21.1 15 44633637C> A null A S 101 101 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl rs867478602 15q21.1 15 44633636G> A null A V 101 101 missense 0.17 benign 0.24 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl,NCI-TCGA rs200428589 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 44633633C> T null G E 102 102 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1025189373 15q21.1 15 44633634C> T null G R 102 102 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs751037214 15q21.1 15 44633629T> C null I M 103 103 missense 0.813 possibly damaging 0.01 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs766052035 15q21.1 15 44633625T> C null N D 105 105 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,NCI-TCGA,dbSNP,gnomAD rs758046989 [ClinVar]: Spastic paraplegia 11, autosomal recessive, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 44633622G> A null R C 106 106 missense 0.981 probably damaging 0.0 deleterious 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV001117415 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,TOPMed,dbSNP,gnomAD rs750200448 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44633621C> T null R H 106 106 missense 0.249 benign 0.12 tolerated 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000706812 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,NCI-TCGA,dbSNP,gnomAD rs765061840 [ClinVar]: Spastic paraplegia 11, autosomal recessive, [ClinVar]: Charcot-Marie-Tooth disease, axonal type 2X, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 15q21.1 15 44633619G> A null Q * 107 107 stop gained 0 Charcot-Marie-Tooth disease, axonal type 2X (CMT2X) MIM:616668 ClinVar:RCV000224985 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,NCI-TCGA,dbSNP,gnomAD rs765061840 [ClinVar]: Spastic paraplegia 11, autosomal recessive, [ClinVar]: Charcot-Marie-Tooth disease, axonal type 2X, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 15q21.1 15 44633619G> A null Q * 107 107 stop gained 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000757917 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs761622804 15q21.1 15 44633615A> G null L P 108 108 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs776498833 15q21.1 15 44633609G> A null T I 110 110 missense 0.982 probably damaging 0.07 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1313250943 15q21.1 15 44633607C> G null V L 111 111 missense 0.536 possibly damaging 0.03 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl rs1006002015 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 44633604T> G null N H 112 112 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs529146881 15q21.1 15 44633591T> C null K R 116 116 2.0E-4 missense 1.0 probably damaging 0.09 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1203470440 15q21.1 15 44633586T> C null K E 118 118 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1297568025 15q21.1 15 44633582T> C null E G 119 119 missense 0.16 benign 0.03 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,TOPMed,gnomAD rs759591726 15q21.1 15 44633583C> T null E K 119 119 missense 0.68 possibly damaging 0.06 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed,gnomAD rs1461499002 15q21.1 15 44633580T> G null N H 120 120 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ESP,TOPMed rs375399685 15q21.1 15 44633573A> C null F C 122 122 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ESP,TOPMed rs375399685 15q21.1 15 44633573A> G null F S 122 122 missense 0.84 possibly damaging 0.0 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs774359304 15q21.1 15 44633571T> G null N H 123 123 missense 0.712 possibly damaging 0.02 deleterious 0 A0A075B718 SPG11 Spatacsin (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372263107 15q21.1 15 44633570T> C null N S 123 123 2.0E-4 missense 0.006 benign 0.59 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs773680273 15q21.1 15 44633565A> T null S T 125 125 missense 0.917 probably damaging 0.1 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl,dbSNP rs312262732 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44633561G> C null S * 126 126 stop gained 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000034180 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed,dbSNP,gnomAD rs1189064880 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44633559T> C null K E 127 127 missense 0.005 benign 0.81 tolerated 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000538104 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,TOPMed,gnomAD rs770234655 15q21.1 15 44633557T> A null K N 127 127 missense 0.005 benign 0.39 tolerated 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs781737689 15q21.1 15 44633550C> T null V I 130 130 missense 0.012 benign 0.43 tolerated - low confidence 0 A0A075B718 SPG11 Spatacsin (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79708848 15q21.1 15 44633542A> T null D E 132 132 0.005192 missense 0.041 benign 0.45 tolerated - low confidence 0 A0A075B718 SPG11 Spatacsin (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs79708848 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44633542A> C null D E 132 132 0.005192 missense 0.041 benign 0.45 tolerated - low confidence 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000206327 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1211344067 15q21.1 15 44633541G> T null Q K 133 133 missense 0.135 benign 0.05 tolerated - low confidence 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1406231695 15q21.1 15 44633537A> T null F Y 134 134 missense 0.034 benign 0.96 tolerated - low confidence 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1334642586 15q21.1 15 44633535C> G null D H 135 135 missense 0.02 benign 0.13 tolerated - low confidence 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs779482131 15q21.1 15 44633534T> A null D V 135 135 missense 0.06 benign 0.27 tolerated - low confidence 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1246658261 15q21.1 15 44633532G> C null H D 136 136 missense 0.005 benign 0.79 tolerated - low confidence 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed,gnomAD rs1384155729 15q21.1 15 44633531T> G null H P 136 136 missense 0.005 benign 0.3 tolerated - low confidence 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed,gnomAD rs1040331008 15q21.1 15 44633530G> C null H Q 136 136 missense 0.007 benign 0.58 tolerated - low confidence 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl rs1567178063 15q21.1 15 44633522G> A null S F 139 139 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B718 SPG11 Spatacsin (Fragment) Ensembl,dbSNP rs1555457572 [ClinVar]: Spastic paraplegia 11, autosomal recessive 15q21.1 15 44633519T> C null H R 140 140 missense 0.142 benign 0.07 tolerated - low confidence 0 Spastic paraplegia 11, autosomal recessive (SPG11) Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. MIM:604360 pubmed:20301389,ClinVar:RCV000546042 A0A075B718 SPG11 Spatacsin (Fragment) 1000Genomes rs185829887 15q21.1 15 44633514A> G null Y H 142 142 2.0E-4 missense 0.444 benign 0.05 tolerated - low confidence 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1402455800 15q21.1 15 44633498C> T null W * 147 147 stop gained 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs758041585 15q21.1 15 44633495T> C null N S 148 148 missense 0.0 unknown 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,gnomAD rs758041585 15q21.1 15 44633495T> G null N T 148 148 missense 0.0 unknown 0 A0A075B718 SPG11 Spatacsin (Fragment) 1000Genomes rs564284885 15q21.1 15 44633490C> T null D N 150 150 2.0E-4 missense 0.0 unknown 0 A0A075B718 SPG11 Spatacsin (Fragment) gnomAD rs1459986980 15q21.1 15 44633485G> C null F L 151 151 missense 0.0 unknown 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,TOPMed,gnomAD rs750040986 15q21.1 15 44633483T> C null Y C 152 152 missense 0.0 unknown 0 A0A075B718 SPG11 Spatacsin (Fragment) ExAC,TOPMed,gnomAD rs778554543 15q21.1 15 44633481T> C null I V 153 153 missense 0.0 unknown 0 A0A075B718 SPG11 Spatacsin (Fragment) TOPMed rs1205602317 15q21.1 15 44633478A> G null C R 154 154 missense 0.0 unknown 0 A0A075B718 SPG11 Spatacsin (Fragment) ESP,ExAC,TOPMed,gnomAD rs374800637 15q21.1 15 44633471T> C null Y C 156 156 missense 0.0 unknown 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs374200686 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48805646A> T null S T 2 2 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000317966 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs374200686 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48805646A> T null S T 2 2 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000354063 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs969892981 15q21.1 15 48805643A> C null L V 3 3 missense 0.862 possibly damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs749998321 15q21.1 15 48805638G> C null D E 4 4 missense 0.168 benign 0.11 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs764921518 15q21.1 15 48805637A> G null F L 5 5 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1380569944 15q21.1 15 48805636A> G null F S 5 5 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs764921518 15q21.1 15 48805637A> C null F V 5 5 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs761448893 15q21.1 15 48805633C> G null G A 6 6 missense 0.957 probably damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1267195648 15q21.1 15 48805625C> A null A S 9 9 missense 0.553 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1192279755 15q21.1 15 48805619G> A null P S 11 11 missense 0.036 benign 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs191061766 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48805615A> G null V A 12 12 3.99E-4 missense 0.0 benign 0.03 deleterious 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000263837 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs191061766 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48805615A> G null V A 12 12 3.99E-4 missense 0.0 benign 0.03 deleterious 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000358549 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs764757015 15q21.1 15 48805616C> A null V L 12 12 missense 0.009 benign 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1034625881 15q21.1 15 48805613G> C null Q E 13 13 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1567036258 15q21.1 15 48805612T> C null Q R 13 13 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1288460118 15q21.1 15 48805608A> T null N K 14 14 missense 0.91 probably damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,gnomAD rs368515832 15q21.1 15 48805609T> G null N T 14 14 missense 0.937 probably damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1418007953 15q21.1 15 48805604C> G null D H 16 16 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,gnomAD rs374516888 15q21.1 15 48805594T> C null Y C 19 19 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs187563127 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48805589C> T null E K 21 21 9.98E-4 missense 0.0 benign 0.69 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1219723429 15q21.1 15 48805581G> C null D E 23 23 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs749434202 15q21.1 15 48805579T> C null Y C 24 24 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs771105927 15q21.1 15 48805580A> G null Y H 24 24 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs777813766 15q21.1 15 48805568T> A null K * 28 28 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1360713369 15q21.1 15 48805567T> C null K R 28 28 missense 0.84 possibly damaging 0.05 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs768588895 15q21.1 15 48805565C> A null E * 29 29 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs768588895 15q21.1 15 48805565C> T null E K 29 29 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs745473367 15q21.1 15 48798043C> G null Q H 32 32 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs767972677 15q21.1 15 48798045G> T null Q K 32 32 missense 0.991 probably damaging 0.37 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1378968851 15q21.1 15 48798042A> C null L V 33 33 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP rs377152691 15q21.1 15 48798035G> C null T R 35 35 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1399311694 15q21.1 15 48798026G> T null P H 38 38 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,NCI-TCGA rs374391447 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48798027G> A null P S 38 38 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1161787331 15q21.1 15 48798024G> A null H Y 39 39 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1457740304 15q21.1 15 48798020T> A null D V 40 40 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs766693008 cosmic curated [Cosmic]: liver cosmic_study:381 15q21.1 15 48798018T> C null M V 41 41 missense 0.979 probably damaging 0.0 deleterious 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1214768344 15q21.1 15 48798011T> C null D G 43 43 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1279736306 15q21.1 15 48798008T> A null D V 44 44 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs200227733 15q21.1 15 48798006C> G null D H 45 45 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,dbSNP,gnomAD rs200227733 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48798006C> T null D N 45 45 missense 0.615 possibly damaging 0.01 deleterious 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000145592 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,dbSNP,gnomAD rs200227733 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48798006C> T null D N 45 45 missense 0.615 possibly damaging 0.01 deleterious 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV001121697 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs765417886 15q21.1 15 48798003G> T null L I 46 46 missense 0.36 benign 0.11 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs202197193 15q21.1 15 48797993G> T null P Q 49 49 missense 0.741 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs774317583 15q21.1 15 48797989C> A null E D 50 50 missense 0.015 benign 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1247705257 15q21.1 15 48797982A> G null Y H 53 53 missense 0.346 benign 0.25 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP rs371869190 15q21.1 15 48797979A> C null S A 54 54 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2289181 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48797978G> A null S L 54 54 0.08686 missense 0.936 probably damaging 0.02 deleterious 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000303870 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2289181 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48797978G> A null S L 54 54 0.08686 missense 0.936 probably damaging 0.02 deleterious 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000267391 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1446929334 15q21.1 15 48797975T> G null D A 55 55 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1338003271 15q21.1 15 48797974G> C null D E 55 55 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1211304684 15q21.1 15 48797973A> C null C G 56 56 missense 0.203 benign 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa dbSNP,gnomAD rs1322163466 15q21.1 15 48797972C> T null C Y 56 56 missense 0.003 benign 0.12 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs755782063 15q21.1 15 48797967C> T null E K 58 58 missense 0.511 possibly damaging 0.82 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1418061814 15q21.1 15 48797963T> A null D V 59 59 missense 0.865 possibly damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1165916807 15q21.1 15 48797964C> A null D Y 59 59 missense 0.906 possibly damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs987638019 15q21.1 15 48797958T> C null T A 61 61 missense 0.167 benign 0.43 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1348437087 15q21.1 15 48797955C> A null D Y 62 62 missense 0.134 benign 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,NCI-TCGA,gnomAD rs755442860 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48797952C> T null G R 63 63 missense 0.005 benign 0.45 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1196655928 15q21.1 15 48797949G> A null Q * 64 64 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1340289334 15q21.1 15 48797730T> G null Q H 64 64 missense 0.277 benign 0.08 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1279295347 15q21.1 15 48797729G> T null P T 65 65 missense 0.0 benign 0.29 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs866605074 15q21.1 15 48797711A> C null L V 71 71 missense 0.392 benign 0.53 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1357688631 15q21.1 15 48797696T> C null N D 76 76 missense 0.007 benign 0.1 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs754041296 15q21.1 15 48797684G> T null L M 80 80 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs752691665 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 15q21.1 15 48797683A> G null L P 80 80 missense 0.974 probably damaging 0.02 deleterious 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs760877379 15q21.1 15 48797680G> A null P L 81 81 missense 0.796 possibly damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,dbSNP,gnomAD rs1178507750 15q21.1 15 48797677T> A null K I 82 82 missense 0.961 probably damaging 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs932857847 15q21.1 15 48797671T> G null Q P 84 84 missense 0.003 benign 0.4 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs368705921 15q21.1 15 48797667A> C null S R 85 85 missense 0.003 benign 0.21 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1186928426 15q21.1 15 48797666C> T null V I 86 86 missense 0.001 benign 0.43 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs980124786 15q21.1 15 48797661A> T null N K 87 87 missense 0.178 benign 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,TOPMed,gnomAD rs374198076 15q21.1 15 48797578C> T null G D 88 88 missense 0.0 benign 0.44 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,TOPMed,gnomAD rs374198076 15q21.1 15 48797578C> A null G V 88 88 missense 0.118 benign 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs750426510 cosmic curated [Cosmic]: liver cosmic_study:322 15q21.1 15 48797575T> C null Y C 89 89 missense 0.027 benign 0.06 tolerated 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs750426510 15q21.1 15 48797575T> A null Y F 89 89 missense 0.027 benign 0.13 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs758439346 15q21.1 15 48797576A> T null Y N 89 89 missense 0.718 possibly damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1035444700 15q21.1 15 48797573T> C null N D 90 90 missense 0.001 benign 0.39 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs765058275 15q21.1 15 48797572T> C null N S 90 90 missense 0.006 benign 0.37 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1320300392 15q21.1 15 48797562C> A null Q H 93 93 missense 0.471 possibly damaging 0.18 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs564949119 15q21.1 15 48797563T> C null Q R 93 93 missense 0.0 benign 0.48 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs761737726 15q21.1 15 48797560C> A null S I 94 94 missense 0.06 benign 0.09 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs761737726 15q21.1 15 48797560C> T null S N 94 94 missense 0.0 benign 1.0 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs761737726 15q21.1 15 48797560C> G null S T 94 94 missense 0.009 benign 0.1 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1400338169 15q21.1 15 48797549C> T null G R 98 98 missense 0.044 benign 0.31 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs760255053 15q21.1 15 48797548C> A null G V 98 98 missense 0.718 possibly damaging 0.36 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,gnomAD rs576905317 15q21.1 15 48797541T> A null K N 100 100 2.0E-4 missense 0.324 benign 0.21 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1446160774 15q21.1 15 48797542T> C null K R 100 100 missense 0.038 benign 0.09 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs771524533 15q21.1 15 48797540A> G null C R 101 101 missense 0.0 benign 0.35 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs745358782 15q21.1 15 48797530A> T null V D 104 104 missense 0.015 benign 0.29 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa dbSNP,gnomAD rs1342429887 [ClinVar]: Seckel syndrome 15q21.1 15 48797527C> T null W * 105 105 stop gained 0 Seckel syndrome (SCKL1) MIM:PS210600 ClinVar:RCV000616115 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs771334909 15q21.1 15 48797522C> G null E Q 107 107 missense 0.277 benign 0.41 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs777941418 15q21.1 15 48797517A> C null N K 108 108 missense 0.415 benign 0.85 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,dbSNP,gnomAD rs756407978 15q21.1 15 48797510T> C null K E 111 111 missense 0.007 benign 0.69 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1026478022 15q21.1 15 48797500T> C null D G 114 114 missense 0.544 possibly damaging 0.13 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs995036419 15q21.1 15 48797498G> A null R * 115 115 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs188101277 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48797497C> T null R Q 115 115 0.001997 missense 0.0 benign 0.97 tolerated 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000346924 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs188101277 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48797497C> T null R Q 115 115 0.001997 missense 0.0 benign 0.97 tolerated 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000390289 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1165914181 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48797492G> A null P S 117 117 missense 0.007 benign 0.91 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1017833754 15q21.1 15 48797485T> C null Y C 119 119 missense 0.018 benign 0.11 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1223743464 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48797486A> G null Y H 119 119 missense 0.834 possibly damaging 0.2 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,gnomAD rs200379265 15q21.1 15 48797480G> T null P T 121 121 2.0E-4 missense 0.415 benign 0.23 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs376736548 15q21.1 15 48797470C> G null G A 124 124 missense 0.199 benign 0.2 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs376736548 15q21.1 15 48797470C> T null G D 124 124 missense 0.034 benign 0.2 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1200607576 15q21.1 15 48797471C> T null G S 124 124 missense 0.423 benign 0.22 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs376736548 15q21.1 15 48797470C> A null G V 124 124 missense 0.019 benign 0.29 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs760345109 15q21.1 15 48797467C> T null G E 125 125 missense 0.602 possibly damaging 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,gnomAD rs372483478 15q21.1 15 48797468C> T null G R 125 125 missense 0.714 possibly damaging 0.07 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1365450686 15q21.1 15 48797462C> T null E K 127 127 missense 0.675 possibly damaging 0.09 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs775170530 15q21.1 15 48797458C> T null G D 128 128 missense 0.708 possibly damaging 0.07 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1201577093 15q21.1 15 48797459C> T null G S 128 128 missense 0.984 probably damaging 0.13 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs767122511 15q21.1 15 48797452C> T null S N 130 130 missense 0.019 benign 0.15 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1441075370 15q21.1 15 48797453T> G null S R 130 130 missense 0.01 benign 0.12 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs759149654 15q21.1 15 48797449C> A null G V 131 131 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs771482680 15q21.1 15 48797435T> C null S G 136 136 missense 0.01 benign 0.27 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs763301318 15q21.1 15 48797434C> T null S N 136 136 missense 0.062 benign 0.1 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1160722993 15q21.1 15 48797432T> A null K * 137 137 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs773741601 15q21.1 15 48797431T> A null K I 137 137 missense 0.367 benign 0.13 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs748494501 15q21.1 15 48797425T> C null E G 139 139 missense 0.943 probably damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs781630135 15q21.1 15 48797411A> T null Y N 144 144 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs768987217 15q21.1 15 48797408G> A null H Y 145 145 missense 0.544 possibly damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs943743333 15q21.1 15 48797395T> A null N I 149 149 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs943743333 15q21.1 15 48797395T> C null N S 149 149 missense 0.453 possibly damaging 0.15 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1167915343 15q21.1 15 48797390T> C null R G 151 151 missense 0.997 probably damaging 0.12 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs779936080 15q21.1 15 48797377T> C null N S 155 155 missense 0.015 benign 0.17 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs890100400 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48797374C> T null G D 156 156 missense 0.811 possibly damaging 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs777668287 15q21.1 15 48797352G> C null N K 163 163 missense 0.007 benign 0.22 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1347160301 15q21.1 15 48797351G> C null Q E 164 164 missense 0.987 probably damaging 0.19 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs755941056 15q21.1 15 48797347G> C null A G 165 165 missense 0.031 benign 0.61 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,gnomAD rs375099751 15q21.1 15 48797345T> C null T A 166 166 missense 0.003 benign 0.82 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1051897125 15q21.1 15 48797344G> A null T I 166 166 missense 0.406 benign 0.14 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1464116157 15q21.1 15 48797341T> A null N I 167 167 missense 0.367 benign 0.11 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs577363889 15q21.1 15 48797340A> C null N K 167 167 missense 0.001 benign 1.0 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1464116157 15q21.1 15 48797341T> C null N S 167 167 missense 0.009 benign 0.55 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs751085486 15q21.1 15 48797321G> A null P S 174 174 missense 0.007 benign 0.16 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1421902848 15q21.1 15 48797318G> C null Q E 175 175 missense 0.406 benign 0.14 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs765765354 15q21.1 15 48797316T> A null Q H 175 175 missense 0.951 probably damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs763537210 15q21.1 15 48797314C> T null W * 176 176 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1264155172 15q21.1 15 48797304A> T null F L 179 179 missense 0.069 benign 0.27 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1180134903 15q21.1 15 48797303G> A null Q * 180 180 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs773902934 15q21.1 15 48797302T> C null Q R 180 180 missense 0.022 benign 0.07 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,gnomAD rs201107392 15q21.1 15 48796160C> G null G R 181 181 2.0E-4 missense 0.595 possibly damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,gnomAD rs577752924 15q21.1 15 48796157G> C null P A 182 182 2.0E-4 missense 0.487 possibly damaging 0.09 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1358331842 15q21.1 15 48796151A> G null C R 184 184 missense 0.62 possibly damaging 0.52 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1247559200 15q21.1 15 48796142A> C null L V 187 187 missense 0.28 benign 0.65 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201999798 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48796135G> A null P L 189 189 missense 0.003 benign 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,TOPMed,gnomAD rs201999798 15q21.1 15 48796135G> T null P Q 189 189 missense 0.54 possibly damaging 0.32 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs749941482 15q21.1 15 48796136G> A null P S 189 189 missense 0.003 benign 0.68 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs777171212 15q21.1 15 48796129T> C null N S 191 191 missense 0.486 possibly damaging 0.51 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs777171212 15q21.1 15 48796129T> G null N T 191 191 missense 0.607 possibly damaging 0.48 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs761081534 15q21.1 15 48796120G> A null T I 194 194 missense 0.003 benign 0.15 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs772331237 15q21.1 15 48796111G> A null P L 197 197 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs995122251 15q21.1 15 48796108T> C null Y C 198 198 missense 0.912 probably damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs746003218 15q21.1 15 48796105T> G null Q P 199 199 missense 0.046 benign 0.1 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs746003218 15q21.1 15 48796105T> C null Q R 199 199 missense 0.134 benign 0.18 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs769723865 15q21.1 15 48796102G> A null S F 200 200 missense 0.885 possibly damaging 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs769723865 15q21.1 15 48796102G> T null S Y 200 200 missense 0.885 possibly damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1252362415 15q21.1 15 48796100A> G null S P 201 201 missense 0.015 benign 0.26 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1490069836 15q21.1 15 48796094G> C null Q E 203 203 missense 0.053 benign 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs926936321 15q21.1 15 48796093T> C null Q R 203 203 missense 0.003 benign 0.08 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs781062843 15q21.1 15 48796091T> G null N H 204 204 missense 0.007 benign 0.29 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs899302856 15q21.1 15 48796088T> G null N H 205 205 missense 0.742 possibly damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs754777587 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:24292195,cosmic_study:563 15q21.1 15 48796081G> A null S L 207 207 missense 0.52 possibly damaging 0.74 tolerated 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1223991728 15q21.1 15 48796082A> G null S P 207 207 missense 0.007 benign 0.33 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs746786206 15q21.1 15 48796078G> T null P Q 208 208 missense 0.693 possibly damaging 0.6 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs368491626 15q21.1 15 48796072T> C null Q R 210 210 missense 0.678 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1436151611 15q21.1 15 48796070C> A null E * 211 211 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs758012825 15q21.1 15 48796068C> A null E D 211 211 missense 0.015 benign 0.23 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs749959761 15q21.1 15 48796063G> A null T I 213 213 missense 0.005 benign 0.09 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200957146 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48796057C> T null S N 215 215 0.001198 missense 0.005 benign 0.9 tolerated 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000398792 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200957146 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48796057C> T null S N 215 215 0.001198 missense 0.005 benign 0.9 tolerated 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000310423 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs757866496 15q21.1 15 48796052T> C null T A 217 217 missense 0.006 benign 0.76 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1305181171 15q21.1 15 48796051G> A null T I 217 217 missense 0.037 benign 0.28 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs367623474 15q21.1 15 48796047G> C null F L 218 218 missense 0.994 probably damaging 0.1 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs761010125 15q21.1 15 48796046C> T null E K 219 219 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs775907500 15q21.1 15 48796043C> T null G S 220 220 missense 0.025 benign 0.18 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1213965481 15q21.1 15 48796040G> C null L V 221 221 missense 0.606 possibly damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,gnomAD rs199965941 15q21.1 15 48796034G> A null Q * 223 223 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs759683033 15q21.1 15 48796027A> C null F C 225 225 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs749346307 15q21.1 15 48796018G> T null A D 228 228 missense 0.3 benign 0.05 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC rs770948303 15q21.1 15 48796019C> T null A T 228 228 missense 0.033 benign 0.86 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs147595936 15q21.1 15 48796016T> G null N H 229 229 5.99E-4 missense 0.465 possibly damaging 0.07 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs768626458 15q21.1 15 48796015T> C null N S 229 229 missense 0.015 benign 0.39 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs753004445 15q21.1 15 48793459A> C null S A 232 232 missense 0.802 possibly damaging 0.06 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1197331523 15q21.1 15 48793458G> A null S F 232 232 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs767880132 15q21.1 15 48793449T> A null N I 235 235 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1324931033 15q21.1 15 48793446A> G null M T 236 236 missense 0.677 possibly damaging 0.08 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1567024681 15q21.1 15 48793441T> C null I V 238 238 missense 0.99 probably damaging 0.17 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1007627946 15q21.1 15 48793433T> G null Q H 240 240 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1057192899 15q21.1 15 48793432G> A null L F 241 241 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs751827841 15q21.1 15 48793431A> C null L R 241 241 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1236213708 15q21.1 15 48793425A> G null V A 243 243 missense 0.203 benign 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs766554400 15q21.1 15 48793414C> T null A T 247 247 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs763085972 15q21.1 15 48793410T> C null K R 248 248 missense 0.41 benign 0.61 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1054616409 15q21.1 15 48793408C> T null E K 249 249 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1447247554 15q21.1 15 48793400T> A null Q H 251 251 missense 0.935 probably damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1567024603 15q21.1 15 48793402G> T null Q K 251 251 missense 0.143 benign 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs773286909 15q21.1 15 48793401T> C null Q R 251 251 missense 0.051 benign 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139994108 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48793394C> A null E D 253 253 missense 0.003 benign 0.58 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,gnomAD rs192488288 15q21.1 15 48793396C> T null E K 253 253 2.0E-4 missense 0.234 benign 0.06 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1168121814 15q21.1 15 48793392T> A null N I 254 254 missense 0.367 benign 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201217824 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48793386A> G null I T 256 256 0.001198 missense 0.014 benign 0.58 tolerated 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000335032 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201217824 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48793386A> G null I T 256 256 0.001198 missense 0.014 benign 0.58 tolerated 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000389584 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs950124283 15q21.1 15 48793383T> G null E A 257 257 missense 0.957 probably damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs778778690 15q21.1 15 48793379C> A null K N 258 258 missense 0.964 probably damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1462115376 15q21.1 15 48793374T> C null N S 260 260 missense 0.007 benign 0.07 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs146482586 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48793363G> A null R C 264 264 missense 0.855 possibly damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs373907642 cosmic curated [Cosmic]: breast pubmed:22495314,cosmic_study:384 15q21.1 15 48793362C> T null R H 264 264 missense 0.023 benign 0.04 deleterious 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs373907642 15q21.1 15 48793362C> A null R L 264 264 missense 0.601 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,dbSNP,gnomAD rs267606717 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: CEP152-Related Disorders, [ClinVar]: Seckel syndrome 5 pubmed:20598275 pubmed:20598275 15q21.1 15 48793359T> G null Q P 265 265 missense 0.997 probably damaging 0.0 deleterious 0 CEP152-Related Disorders ClinVar:RCV000778440 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,dbSNP,gnomAD rs267606717 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: CEP152-Related Disorders, [ClinVar]: Seckel syndrome 5 pubmed:20598275 pubmed:20598275 15q21.1 15 48793359T> G null Q P 265 265 missense 0.997 probably damaging 0.0 deleterious 0 Microcephaly 9, primary, autosomal recessive (MCPH9) A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. MIM:614852 pubmed:20598275 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,dbSNP,gnomAD rs267606717 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: CEP152-Related Disorders, [ClinVar]: Seckel syndrome 5 pubmed:20598275 pubmed:20598275 15q21.1 15 48793359T> G null Q P 265 265 missense 0.997 probably damaging 0.0 deleterious 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000000072,ClinVar:RCV000763360 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,dbSNP,gnomAD rs267606717 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: CEP152-Related Disorders, [ClinVar]: Seckel syndrome 5 pubmed:20598275 pubmed:20598275 15q21.1 15 48793359T> G null Q P 265 265 missense 0.997 probably damaging 0.0 deleterious 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000763360 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1274223351 15q21.1 15 48793355A> C null I M 266 266 missense 0.891 possibly damaging 0.4 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs376895274 15q21.1 15 48793354G> A null R * 267 267 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs376895274 15q21.1 15 48793354G> C null R G 267 267 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs199901990 15q21.1 15 48793353C> T null R Q 267 267 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs372580183 15q21.1 15 48793350T> A null Y F 268 268 missense 0.043 benign 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs987731452 15q21.1 15 48793348G> C null L V 269 269 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs766603221 15q21.1 15 48793342G> A null H Y 271 271 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs750500211 15q21.1 15 48793329A> T null I K 275 275 missense 0.572 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1188398010 15q21.1 15 48793328T> C null I M 275 275 missense 0.027 benign 0.4 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1246923655 15q21.1 15 48793327T> C null I V 276 276 missense 0.003 benign 1.0 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,gnomAD rs566987261 15q21.1 15 48793324T> C null K E 277 277 5.99E-4 missense 0.225 benign 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1411256606 15q21.1 15 48793321C> A null D Y 278 278 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1384319834 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 15q21.1 15 48791369C> A null K N 280 280 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs753956162 15q21.1 15 48791366A> T null D E 281 281 missense 0.92 probably damaging 0.13 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1156945421 15q21.1 15 48791368C> T null D N 281 281 missense 0.435 benign 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1316210146 15q21.1 15 48791364C> T null G D 282 282 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1284869801 15q21.1 15 48791362A> T null L M 283 283 missense 0.797 possibly damaging 0.05 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1251049909 15q21.1 15 48791358G> C null T S 284 284 missense 0.005 benign 0.07 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs368723147 15q21.1 15 48791356G> A null L F 285 285 missense 0.259 benign 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs774315555 15q21.1 15 48791355A> C null L R 285 285 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368723147 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 15q21.1 15 48791356G> C null L V 285 285 missense 0.301 benign 0.58 tolerated 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1405147391 15q21.1 15 48791352C> T null S N 286 286 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs766223757 15q21.1 15 48791346C> T null R Q 288 288 missense 0.116 benign 0.59 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1567022565 15q21.1 15 48791343T> C null E G 289 289 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1286565627 15q21.1 15 48791338G> C null Q E 291 291 missense 0.826 possibly damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1286565627 15q21.1 15 48791338G> T null Q K 291 291 missense 0.879 possibly damaging 0.06 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1056856527 15q21.1 15 48791335T> G null K Q 292 292 missense 0.64 possibly damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,TOPMed,gnomAD rs201925410 15q21.1 15 48791327A> C null F L 294 294 3.99E-4 missense 0.015 benign 0.51 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,gnomAD rs374221404 15q21.1 15 48791326G> A null Q * 295 295 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,NCI-TCGA,gnomAD rs374221404 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48791326G> C null Q E 295 295 missense 0.987 probably damaging 0.39 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs776054120 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 15q21.1 15 48791314C> A null E * 299 299 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs776054120 15q21.1 15 48791314C> G null E Q 299 299 missense 0.998 probably damaging 0.08 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs200843051 15q21.1 15 48791313T> A null E V 299 299 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs769183953 15q21.1 15 48791306C> A null E D 301 301 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,gnomAD rs569359029 15q21.1 15 48791305T> A null I L 302 302 2.0E-4 missense 0.001 benign 0.22 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1567022449 15q21.1 15 48791302G> C null Q E 303 303 missense 0.647 possibly damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs886086165 15q21.1 15 48791299G> A null L F 304 304 missense 0.479 possibly damaging 0.05 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1378201754 15q21.1 15 48791292G> A null A V 306 306 missense 0.843 possibly damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs758841509 15q21.1 15 48791285T> C null I M 308 308 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1334505717 15q21.1 15 48791286A> G null I T 308 308 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs199862615 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48791284T> G null K Q 309 309 0.001198 missense 0.866 possibly damaging 0.06 tolerated 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000265493 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs199862615 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48791284T> G null K Q 309 309 0.001198 missense 0.866 possibly damaging 0.06 tolerated 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000320543 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs753968440 15q21.1 15 48791261T> G null Q H 316 316 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs918840553 15q21.1 15 48791263G> T null Q K 316 316 missense 0.592 possibly damaging 0.07 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,NCI-TCGA,gnomAD rs764227541 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48791260C> T null A T 317 317 missense 0.039 benign 0.72 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1322030760 15q21.1 15 48791251C> G null V L 320 320 missense 0.124 benign 0.36 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,dbSNP,gnomAD rs556609167 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48791247T> C null N S 321 321 missense 0.04 benign 0.3 tolerated 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000268783 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,dbSNP,gnomAD rs556609167 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48791247T> C null N S 321 321 missense 0.04 benign 0.3 tolerated 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000363356 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed rs761573655 15q21.1 15 48788999C> G null M I 325 325 missense 0.0 benign 0.98 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed rs761573655 15q21.1 15 48788999C> A null M I 325 325 missense 0.0 benign 0.98 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1386015938 15q21.1 15 48788996G> C null I M 326 326 missense 0.878 possibly damaging 0.34 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs17339589 15q21.1 15 48788993C> G null K N 327 327 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1184119575 15q21.1 15 48788994T> C null K R 327 327 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201942310 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48788992T> G null K Q 328 328 0.001198 missense 0.637 possibly damaging 0.29 tolerated 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV001121595 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201942310 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48788992T> G null K Q 328 328 0.001198 missense 0.637 possibly damaging 0.29 tolerated 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV001121594 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1195028838 15q21.1 15 48788991T> C null K R 328 328 missense 0.894 possibly damaging 0.06 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs201737930 15q21.1 15 48788979G> A null T I 332 332 missense 0.414 benign 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs372408673 15q21.1 15 48788972C> T null M I 334 334 missense 0.006 benign 0.65 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1219877183 15q21.1 15 48788971C> A null A S 335 335 missense 0.762 possibly damaging 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1188090148 15q21.1 15 48788953G> A null Q * 341 341 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1465662219 15q21.1 15 48788965_48788966insAAGCTTT C null Q A 341 341 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs933827590 15q21.1 15 48788940T> A null D V 345 345 missense 0.857 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1315199942 15q21.1 15 48788937A> C null L R 346 346 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs772641339 15q21.1 15 48788934T> C null H R 347 347 missense 0.001 benign 0.89 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1475513766 15q21.1 15 48788932G> A null H Y 348 348 missense 0.889 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs375806576 15q21.1 15 48788913C> T null R Q 354 354 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs749636820 15q21.1 15 48788908T> C null R G 356 356 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1301526123 15q21.1 15 48788898T> C null H R 359 359 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs770125971 15q21.1 15 48788892C> T null S N 361 361 missense 0.006 benign 0.32 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs770125971 15q21.1 15 48788892C> G null S T 361 361 missense 0.124 benign 0.61 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1311099765 15q21.1 15 48788887C> T null V I 363 363 missense 0.994 probably damaging 0.31 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs746779567 15q21.1 15 48788883A> G null M T 364 364 missense 0.0 benign 0.46 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1240291930 15q21.1 15 48788884T> C null M V 364 364 missense 0.009 benign 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs748251282 15q21.1 15 48788881C> G null G R 365 365 missense 0.914 probably damaging 0.09 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs748251282 15q21.1 15 48788881C> T null G S 365 365 missense 0.172 benign 0.44 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs946472016 15q21.1 15 48788877A> G null L P 366 366 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs372764060 15q21.1 15 48788874G> T null T K 367 367 missense 0.05 benign 1.0 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs946314518 15q21.1 15 48788864G> C null Y * 370 370 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs750376163 15q21.1 15 48788866A> G null Y H 370 370 missense 0.009 benign 0.8 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,gnomAD rs538717531 15q21.1 15 48788863C> T null E K 371 371 2.0E-4 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,gnomAD rs538717531 15q21.1 15 48788863C> G null E Q 371 371 2.0E-4 missense 0.911 probably damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,dbSNP,gnomAD rs369383335 15q21.1 15 48788858C> G null E D 372 372 missense 0.022 benign 0.12 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,TOPMed,gnomAD rs188346136 15q21.1 15 48788854C> T null V I 374 374 2.0E-4 missense 0.994 probably damaging 0.16 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,TOPMed,gnomAD rs188346136 15q21.1 15 48788854C> G null V L 374 374 2.0E-4 missense 0.994 probably damaging 0.29 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs752287361 15q21.1 15 48788839T> C null K E 379 379 missense 0.085 benign 0.06 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1453843365 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,pubmed:22895193,cosmic_study:376,cosmic_study:452 15q21.1 15 48788837C> A null K N 379 379 missense 0.003 benign 0.05 deleterious 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,gnomAD rs549725302 15q21.1 15 48788836T> C null N D 380 380 2.0E-4 missense 0.234 benign 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1260657972 15q21.1 15 48788832A> G null L S 381 381 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs759061955 15q21.1 15 48788829T> A null D V 382 382 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl,dbSNP rs886051265 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48788821C> A null V F 385 385 missense 0.075 benign 0.14 tolerated 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000272225 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl,dbSNP rs886051265 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48788821C> A null V F 385 385 missense 0.075 benign 0.14 tolerated 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000308580 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs763467300 15q21.1 15 48788815C> A null A S 387 387 missense 0.508 possibly damaging 0.1 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,NCI-TCGA,TOPMed,gnomAD rs763467300 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 15q21.1 15 48788815C> T null A T 387 387 missense 0.777 possibly damaging 0.08 tolerated 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1350821224 15q21.1 15 48788809T> C null K E 389 389 missense 0.127 benign 0.44 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs773653567 15q21.1 15 48788802T> C null Q R 391 391 missense 0.742 possibly damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs372066992 15q21.1 15 48784118T> G null E D 392 392 missense 0.415 benign 0.22 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs181295720 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48784114T> C null I V 394 394 0.001198 missense 0.005 benign 0.79 tolerated 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000145590 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs181295720 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48784114T> C null I V 394 394 0.001198 missense 0.005 benign 0.79 tolerated 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000312529 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs775484003 15q21.1 15 48784110C> G null C S 395 395 missense 0.046 benign 0.12 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs749179089 15q21.1 15 48784107G> C null S C 396 396 missense 0.0 benign 0.14 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs749179089 15q21.1 15 48784107G> A null S F 396 396 missense 0.178 benign 0.08 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201569877 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:416 15q21.1 15 48784104C> T null R H 397 397 missense 0.0 benign 0.52 tolerated 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs201569877 15q21.1 15 48784104C> G null R P 397 397 missense 0.284 benign 0.06 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1451898608 15q21.1 15 48784096C> T null D N 400 400 missense 0.964 probably damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1567015416 15q21.1 15 48784089A> G null V A 402 402 missense 0.894 possibly damaging 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,NCI-TCGA,TOPMed,gnomAD rs780764155 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: lung cosmic_study:583 15q21.1 15 48784090C> T null V M 402 402 missense 0.753 possibly damaging 0.02 deleterious 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs751035264 15q21.1 15 48784073C> A null R S 407 407 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs751035264 15q21.1 15 48784073C> G null R S 407 407 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1391268519 15q21.1 15 48784071T> A null N I 408 408 missense 0.003 benign 0.19 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188488086 15q21.1 15 48784063C> G null A P 411 411 2.0E-4 missense 0.649 possibly damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188488086 15q21.1 15 48784063C> T null A T 411 411 2.0E-4 missense 0.367 benign 0.06 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs376655058 15q21.1 15 48784040C> G null E D 418 418 missense 0.996 probably damaging 0.11 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs762142940 15q21.1 15 48784039T> C null I V 419 419 missense 0.151 benign 0.41 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,dbSNP,gnomAD rs776999918 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48784036T> A null I F 420 420 missense 0.998 probably damaging 0.0 deleterious 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000297132 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,dbSNP,gnomAD rs776999918 [ClinVar]: Primary autosomal recessive microcephaly 9, [ClinVar]: Seckel syndrome 5 15q21.1 15 48784036T> A null I F 420 420 missense 0.998 probably damaging 0.0 deleterious 0 Seckel syndrome 5 (SCKL5) MIM:613823 pubmed:20301772,ClinVar:RCV000400867 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs764228767 15q21.1 15 48784033T> C null N D 421 421 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1289468295 15q21.1 15 48784032T> C null N S 421 421 missense 0.41 benign 0.11 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1319225086 15q21.1 15 48784026A> C null L W 423 423 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1214323004 15q21.1 15 48784024T> C null T A 424 424 missense 0.467 possibly damaging 0.07 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,gnomAD rs553281360 15q21.1 15 48784023G> C null T R 424 424 3.99E-4 missense 0.9 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs775572072 15q21.1 15 48784021T> C null R G 425 425 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1357354888 15q21.1 15 48784010C> G null E D 428 428 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs772184899 15q21.1 15 48784007C> G null E D 429 429 missense 0.137 benign 0.08 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1379850714 15q21.1 15 48784005C> T null S N 430 430 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs745912507 15q21.1 15 48784003G> T null Q K 431 431 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1567015246 15q21.1 15 48783999T> C null K R 432 432 missense 0.642 possibly damaging 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1335015537 15q21.1 15 48783994A> G null C R 434 434 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1162409652 15q21.1 15 48783973C> T null G R 441 441 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1567013318 15q21.1 15 48782228A> G null S P 442 442 missense 0.984 probably damaging 0.06 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs201577437 15q21.1 15 48782222G> A null Q * 444 444 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs201577437 15q21.1 15 48782222G> C null Q E 444 444 missense 0.342 benign 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs778449348 15q21.1 15 48782218T> G null E A 445 445 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1299818297 15q21.1 15 48782215A> C null V G 446 446 missense 0.079 benign 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs373792012 15q21.1 15 48782204G> A null Q * 450 450 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1476123736 15q21.1 15 48782189G> C null Q E 455 455 missense 0.275 benign 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1219507779 15q21.1 15 48782185G> A null A V 456 456 missense 0.359 benign 0.15 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1286652913 15q21.1 15 48782180T> C null K E 458 458 missense 0.085 benign 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs778107317 15q21.1 15 48782176G> A null A V 459 459 missense 0.801 possibly damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1468574201 15q21.1 15 48782172A> C null H Q 460 460 missense 0.054 benign 0.28 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1429093925 15q21.1 15 48782167A> C null M R 462 462 missense 0.134 benign 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1435166917 15q21.1 15 48782159T> C null N D 465 465 missense 0.013 benign 0.08 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs753044279 15q21.1 15 48782146G> C null A G 469 469 missense 0.521 possibly damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1186026686 15q21.1 15 48782139T> G null Q H 471 471 missense 0.912 probably damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs778398210 15q21.1 15 48781355T> C null E G 473 473 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs756552374 15q21.1 15 48781349G> T null T K 475 475 missense 0.003 benign 0.26 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs748513916 15q21.1 15 48781347C> T null E K 476 476 missense 0.011 benign 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1246420138 15q21.1 15 48781343A> C null L R 477 477 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs781494539 15q21.1 15 48781339T> G null K N 478 478 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1567012285 15q21.1 15 48781332T> G null I L 481 481 missense 0.99 probably damaging 0.08 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs373522788 15q21.1 15 48781328G> T null S Y 482 482 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs577245541 15q21.1 15 48781325A> G null L P 483 483 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs369568094 15q21.1 15 48781326G> C null L V 483 483 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1480617432 15q21.1 15 48781322T> C null Y C 484 484 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs750412941 15q21.1 15 48781323A> G null Y H 484 484 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs764100157 15q21.1 15 48781305G> C null L V 490 490 missense 0.54 possibly damaging 0.04 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs775450899 15q21.1 15 48781295T> C null H R 493 493 missense 0.093 benign 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs767472633 15q21.1 15 48781293G> A null P S 494 494 missense 0.05 benign 0.53 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs759378704 15q21.1 15 48781289C> T null S N 495 495 missense 0.005 benign 0.73 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs774115618 15q21.1 15 48781288A> C null S R 495 495 missense 0.007 benign 0.43 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs770472797 15q21.1 15 48781286T> C null D G 496 496 missense 0.592 possibly damaging 0.08 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs748840635 15q21.1 15 48781283G> C null S * 497 497 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1272798423 15q21.1 15 48781281C> A null E * 498 498 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC rs772527850 15q21.1 15 48781277C> T null G E 499 499 missense 0.232 benign 0.26 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1248227604 15q21.1 15 48781273T> G null E D 500 500 missense 0.003 benign 0.34 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,TOPMed rs565045383 15q21.1 15 48781274T> A null E V 500 500 2.0E-4 missense 0.006 benign 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,dbSNP,gnomAD rs748603785 15q21.1 15 48781264T> C null I M 503 503 missense 0.025 benign 0.25 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs770314820 15q21.1 15 48781266T> C null I V 503 503 missense 0.0 benign 1.0 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,dbSNP,gnomAD rs587783416 [ClinVar]: Primary autosomal recessive microcephaly 9 15q21.1 15 48781257T> C null T A 506 506 missense 0.003 benign 0.1 tolerated 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000145593 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs587783416 15q21.1 15 48781257T> G null T P 506 506 missense 0.387 benign 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1356180291 15q21.1 15 48781250G> A null S L 508 508 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs370054135 15q21.1 15 48781247T> C null Y C 509 509 missense 0.022 benign 0.32 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs370054135 15q21.1 15 48781247T> A null Y F 509 509 missense 0.754 possibly damaging 0.36 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs758484832 15q21.1 15 48781245C> T null V M 510 510 missense 0.179 benign 0.16 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1458643609 15q21.1 15 48781242C> T null D N 511 511 missense 0.011 benign 0.06 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs750550027 15q21.1 15 48781235C> T null G D 513 513 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs750550027 15q21.1 15 48781235C> A null G V 513 513 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs765361987 15q21.1 15 48781229T> C null K R 515 515 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1301310828 15q21.1 15 48781225C> G null K N 516 516 missense 0.148 benign 0.09 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs757393906 15q21.1 15 48781226T> G null K T 516 516 missense 0.884 possibly damaging 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs752725970 15q21.1 15 48781223A> G null V A 517 517 missense 0.0 benign 0.65 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs752725970 15q21.1 15 48781223A> T null V D 517 517 missense 0.107 benign 0.07 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl,dbSNP rs1555424276 15q21.1 15 48781224C> G null V L 517 517 missense 0.053 benign 0.13 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs1567012022 15q21.1 15 48781220T> C null N S 518 518 missense 0.02 benign 0.13 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1294032953 15q21.1 15 48781218A> G null W R 519 519 missense 0.165 benign 0.49 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1292582586 15q21.1 15 48781215T> C null K E 520 520 missense 0.347 benign 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,dbSNP,gnomAD rs376452872 [ClinVar]: Primary autosomal recessive microcephaly 9 15q21.1 15 48781208G> C null S C 522 522 missense 0.987 probably damaging 0.02 deleterious 0 Primary autosomal recessive microcephaly 9 (MCPH9) MIM:614852 pubmed:20301772,ClinVar:RCV000145594 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs773956441 15q21.1 15 48781206T> C null K E 523 523 missense 0.021 benign 0.13 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs773956441 15q21.1 15 48781206T> G null K Q 523 523 missense 0.382 benign 0.14 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1413718848 15q21.1 15 48781199G> T null T N 525 525 missense 0.0 benign 0.8 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP rs368273820 15q21.1 15 48772689A> G null I T 527 527 missense 0.001 benign 0.83 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1267183326 15q21.1 15 48772681C> G null E Q 530 530 missense 0.0 benign 1.0 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1189672382 15q21.1 15 48772678C> T null E K 531 531 missense 0.055 benign 0.29 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1208912569 15q21.1 15 48772673G> C null D E 532 532 missense 0.001 benign 0.45 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,NCI-TCGA,TOPMed,gnomAD rs762785569 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48772675C> T null D N 532 532 missense 0.075 benign 0.18 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ESP,ExAC,TOPMed,gnomAD rs374376744 15q21.1 15 48772671G> T null P Q 533 533 missense 0.491 possibly damaging 0.33 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1173753399 15q21.1 15 48772665T> G null E A 535 535 missense 0.124 benign 0.15 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa Ensembl rs957694382 15q21.1 15 48772660G> A null L F 537 537 missense 0.775 possibly damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1389083590 15q21.1 15 48772659A> G null L P 537 537 missense 0.247 benign 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs776054057 cosmic curated [Cosmic]: cervix cosmic_study:415 15q21.1 15 48772656G> C null S * 538 538 missense 1 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs769183858 15q21.1 15 48772654T> C null K E 539 539 missense 0.654 possibly damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs761040817 15q21.1 15 48772650T> A null D V 540 540 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1215185223 15q21.1 15 48772638A> G null L P 544 544 missense 0.885 possibly damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1187296239 15q21.1 15 48772631T> A null L F 546 546 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs746242658 15q21.1 15 48772621C> A null V L 550 550 missense 0.01 benign 1.0 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs746242658 15q21.1 15 48772621C> G null V L 550 550 missense 0.01 benign 1.0 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1471912721 15q21.1 15 48772618G> A null Q * 551 551 stop gained 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,NCI-TCGA,gnomAD rs771215715 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48772615G> A null R C 552 552 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs749380374 15q21.1 15 48772614C> T null R H 552 552 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1329824073 15q21.1 15 48772596G> A null S L 558 558 missense 0.194 benign 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs777957997 15q21.1 15 48772597A> G null S P 558 558 missense 0.578 possibly damaging 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs374218350 15q21.1 15 48772594T> A null M L 559 559 missense 0.005 benign 0.44 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs374218350 15q21.1 15 48772594T> C null M V 559 559 missense 0.0 benign 1.0 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1236496609 15q21.1 15 48772590T> C null K R 560 560 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1447022316 15q21.1 15 48772588G> A null R C 561 561 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,NCI-TCGA,TOPMed,gnomAD rs754963681 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.1 15 48772587C> T null R H 561 561 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs751499066 15q21.1 15 48772584T> A null H L 562 562 missense 0.054 benign 0.1 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs751499066 15q21.1 15 48772584T> G null H P 562 562 missense 0.26 benign 0.03 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1407669047 15q21.1 15 48772581A> G null L P 563 563 missense 0.952 probably damaging 0.1 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs780009341 15q21.1 15 48772579C> T null V M 564 564 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1432101183 15q21.1 15 48772572T> G null Q P 566 566 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1432101183 15q21.1 15 48772572T> C null Q R 566 566 missense 0.742 possibly damaging 0.08 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs750160029 15q21.1 15 48772562A> T null N K 569 569 missense 0.23 benign 0.1 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1163254409 15q21.1 15 48772561C> T null D N 570 570 missense 0.391 benign 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1163254409 15q21.1 15 48772561C> A null D Y 570 570 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs759514448 15q21.1 15 48772558G> A null L F 571 571 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,TOPMed,gnomAD rs759514448 15q21.1 15 48772558G> T null L I 571 571 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1483556938 15q21.1 15 48772552C> T null D N 573 573 missense 0.009 benign 0.21 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs886846813 15q21.1 15 48772545T> G null H P 575 575 missense 0.134 benign 0.01 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed rs1253786701 15q21.1 15 48772536A> G null I T 578 578 missense 0.033 benign 0.2 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa 1000Genomes,ExAC,TOPMed rs200886895 15q21.1 15 48772533T> C null E G 579 579 2.0E-4 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa gnomAD rs1371448435 15q21.1 15 48772534C> T null E K 579 579 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa ExAC,gnomAD rs753370061 15q21.1 15 48772525G> A null H Y 582 582 missense 0.058 benign 0.0 deleterious - low confidence 0 A0A075B719 CEP152 Centrosomal protein of 152 kDa TOPMed,gnomAD rs1300385984 15q21.1 15 48772521T> G null Q P 583 583 missense 0.974 probably damaging 0.01 deleterious - low confidence 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs746008168 15q21.2 15 50439077C> T null P S 2 2 missense 0.655 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1023737708 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.2 15 50439080G> A null A T 3 3 missense 0.037 benign 0.14 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1362442451 15q21.2 15 50439083G> A null V M 4 4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs772245581 15q21.2 15 50439090C> T null S L 6 6 missense 0.704 possibly damaging 0.07 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1275424636 15q21.2 15 50439102A> G null E G 10 10 missense 0.719 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1254440813 15q21.2 15 50439101G> C null E Q 10 10 missense 0.72 possibly damaging 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1252709211 15q21.2 15 50439110C> G null L V 13 13 missense 0.985 probably damaging 0.1 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1488299999 15q21.2 15 50439120C> T null S L 16 16 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1003252953 15q21.2 15 50439119T> C null S P 16 16 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,TOPMed rs146265742 15q21.2 15 50439125A> G null K E 18 18 missense 0.182 benign 0.27 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs776989869 15q21.2 15 50439155C> T null P S 28 28 missense 0.065 benign 0.11 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1030667700 15q21.2 15 50439176A> G null S G 35 35 missense 0.104 benign 0.13 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1279917919 15q21.2 15 50441351A> G null Y C 36 36 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1389421520 15q21.2 15 50441353G> A null V M 37 37 missense 0.37 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs758955965 15q21.2 15 50441363C> T null A V 40 40 missense 0.198 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs774971326 15q21.2 15 50441396G> T null R I 51 51 missense 0.652 possibly damaging 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs774971326 15q21.2 15 50441396G> C null R T 51 51 missense 0.552 possibly damaging 0.03 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1287934732 15q21.2 15 50441404C> G null R G 54 54 missense 0.005 benign 0.24 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs763929433 15q21.2 15 50441405G> A null R H 54 54 missense 0.66 possibly damaging 0.07 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs144092934 15q21.2 15 50441416A> G null R G 58 58 missense 0.109 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs757196521 15q21.2 15 50441419G> A null A T 59 59 missense 0.865 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs766384696 15q21.2 15 50441425G> A null V I 61 61 missense 0.01 benign 0.33 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs376372339 15q21.2 15 50441431T> C null Y H 63 63 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1555527158 15q21.2 15 50441432A> C null Y S 63 63 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes rs200486051 15q21.2 15 50441434A> G null M V 64 64 missense 0.275 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1409946215 15q21.2 15 50441438A> G null K R 65 65 missense 0.015 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs201994026 cosmic curated [Cosmic]: pancreas cosmic_study:328 15q21.2 15 50441443G> A null V M 67 67 missense 0.021 benign 0.06 tolerated 1 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1471559119 15q21.2 15 50441453A> G null Y C 70 70 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs932067821 15q21.2 15 50441452T> C null Y H 70 70 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1367318685 15q21.2 15 50441452_50441455du p null N I 71 71 stop gained 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1170411850 15q21.2 15 50441459T> C null L P 72 72 missense 0.934 probably damaging 0.05 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1390758927 15q21.2 15 50441461A> G null I V 73 73 missense 0.027 benign 0.14 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,NCI-TCGA,gnomAD rs756495148 [NCI-TCGA]: Variant assessed as Somatic; impact. 15q21.2 15 50441465A> G null K R 74 74 missense 0.007 benign 0.27 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs941161267 15q21.2 15 50441470A> G null R G 76 76 missense 0.077 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs749808011 15q21.2 15 50441485C> G null Q E 81 81 missense 0.12 benign 0.03 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1050468211 15q21.2 15 50441491C> G null Q E 83 83 missense 0.456 possibly damaging 0.04 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs376140894 15q21.2 15 50449400G> A null D N 84 84 missense 0.427 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs376140894 15q21.2 15 50449400G> T null D Y 84 84 missense 0.914 probably damaging 0.03 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1322588568 15q21.2 15 50449404A> C null Y S 85 85 missense 0.537 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1366023091 15q21.2 15 50449408C> A null F L 86 86 missense 0.277 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1434934283 15q21.2 15 50449415A> G null I V 89 89 missense 0.0 benign 0.12 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs779520263 15q21.2 15 50449418C> T null L F 90 90 missense 0.983 probably damaging 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs142318657 15q21.2 15 50449433A> G null I V 95 95 missense 0.003 benign 0.29 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs887975163 15q21.2 15 50449436A> C null K Q 96 96 missense 0.247 benign 0.1 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1193422063 15q21.2 15 50449439A> G null K E 97 97 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1262889620 15q21.2 15 50449474C> G null S R 108 108 missense 0.711 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1186581350 15q21.2 15 50449478A> G null K E 110 110 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs375156642 15q21.2 15 50459020G> A null R Q 119 119 missense 0.725 possibly damaging 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs979378456 15q21.2 15 50459019C> T null R W 119 119 missense 0.965 probably damaging 0.04 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1351722544 15q21.2 15 50459025A> G null K E 121 121 missense 0.1 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1352845159 15q21.2 15 50459029T> A null L H 122 122 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1458806543 15q21.2 15 50459028C> G null L V 122 122 missense 0.944 probably damaging 0.04 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1006177945 15q21.2 15 50459042C> G null D E 126 126 missense 0.0 benign 0.87 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs747706527 15q21.2 15 50459041A> G null D G 126 126 missense 0.102 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1368580280 15q21.2 15 50459049G> A null E K 129 129 missense 0.178 benign 0.11 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1349440474 15q21.2 15 50459059A> G null Q R 132 132 missense 0.025 benign 0.26 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ExAC,gnomAD rs546168322 15q21.2 15 50459062G> A null R Q 133 133 2.0E-4 missense 0.0 benign 0.35 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,dbSNP,gnomAD rs202135045 [ClinVar]: Hereditary spastic paraplegia 15q21.2 15 50459061C> T null R W 133 133 missense 0.003 benign 0.03 deleterious 0 Hereditary spastic paraplegia MIM:PS303350 pubmed:20301682,ClinVar:RCV000633121 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs770919827 15q21.2 15 50459065T> C null L P 134 134 missense 0.0 benign 0.22 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs774241076 15q21.2 15 50459067C> A null Q K 135 135 missense 0.0 benign 0.68 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC rs760792621 15q21.2 15 50459070C> A null Q K 136 136 missense 0.0 benign 0.22 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs764108123 15q21.2 15 50459071A> C null Q P 136 136 missense 0.124 benign 0.08 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs764108123 15q21.2 15 50459071A> G null Q R 136 136 missense 0.017 benign 0.18 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1458768704 15q21.2 15 50459081G> C null Q H 139 139 missense 0.375 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1250834656 15q21.2 15 50459089G> A null G E 142 142 missense 0.005 benign 0.32 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs761871009 15q21.2 15 50459097G> A null D N 145 145 missense 0.205 benign 0.13 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs761871009 15q21.2 15 50459097G> T null D Y 145 145 missense 0.707 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1175709880 15q21.2 15 50459104G> A null G D 147 147 missense 0.1 benign 0.6 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1480606305 15q21.2 15 50459103G> A null G S 147 147 missense 0.007 benign 0.73 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs750813812 15q21.2 15 50459107C> T null T I 148 148 missense 0.006 benign 0.26 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs750813812 15q21.2 15 50459107C> G null T R 148 148 missense 0.009 benign 0.54 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1317409542 15q21.2 15 50459117A> C null K N 151 151 missense 0.134 benign 0.08 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs754557553 15q21.2 15 50459125T> C null L S 154 154 missense 0.005 benign 0.48 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1217922643 15q21.2 15 50459138G> C null L F 158 158 missense 0.003 benign 0.17 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1370341995 15q21.2 15 50459139G> A null D N 159 159 missense 0.326 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs747842448 15q21.2 15 50459143C> G null S C 160 160 missense 0.001 benign 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC rs375181185 15q21.2 15 50459145A> G null K E 161 161 missense 0.081 benign 0.1 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs777475376 15q21.2 15 50459146A> C null K T 161 161 missense 0.149 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1210004059 15q21.2 15 50459151A> G null K E 163 163 missense 0.378 benign 0.07 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141529735 15q21.2 15 50459152A> G null K R 163 163 7.99E-4 missense 0.012 benign 0.04 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141529735 15q21.2 15 50459152A> C null K T 163 163 7.99E-4 missense 0.616 possibly damaging 0.06 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1227280203 15q21.2 15 50459155C> T null T I 164 164 missense 0.0 benign 0.17 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs774290227 15q21.2 15 50459158A> T null Q L 165 165 missense 0.0 benign 0.1 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs965266445 15q21.2 15 50462280A> T null S C 167 167 missense 0.078 benign 0.06 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs377647055 15q21.2 15 50462284A> G null N S 168 168 missense 0.035 benign 0.1 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ExAC,TOPMed,gnomAD rs572018148 15q21.2 15 50462294G> T null K N 171 171 2.0E-4 missense 0.0 benign 0.37 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ExAC,TOPMed,gnomAD rs572018148 15q21.2 15 50462294G> C null K N 171 171 2.0E-4 missense 0.0 benign 0.37 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1334060411 15q21.2 15 50462292A> C null K Q 171 171 missense 0.0 benign 0.51 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs147121994 15q21.2 15 50462296A> G null N S 172 172 missense 0.0 benign 0.88 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs780038219 15q21.2 15 50462303A> C null K N 174 174 missense 0.193 benign 0.48 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1454169875 15q21.2 15 50462306_50462307de l null C * 175 175 stop gained 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs201911916 15q21.2 15 50462304T> C null C R 175 175 missense 0.001 benign 0.52 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1193238501 15q21.2 15 50462310A> T null T S 177 177 missense 0.0 benign 0.65 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs748219940 15q21.2 15 50462311C> G null T S 177 177 missense 0.0 benign 0.65 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs769898763 15q21.2 15 50462313A> G null K E 178 178 missense 0.0 benign 0.95 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs769898763 15q21.2 15 50462313A> C null K Q 178 178 missense 0.0 benign 0.53 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1193237482 15q21.2 15 50462314A> G null K R 178 178 missense 0.0 benign 0.52 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1350788542 15q21.2 15 50462316G> A null E K 179 179 missense 0.0 benign 0.72 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs760025344 15q21.2 15 50465052A> G null I V 183 183 missense 0.0 benign 0.21 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1229279965 15q21.2 15 50465055A> G null T A 184 184 missense 0.047 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs772431442 15q21.2 15 50465065A> C null E A 187 187 missense 0.013 benign 0.14 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs753400763 15q21.2 15 50465073A> G null T A 190 190 missense 0.0 benign 0.76 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1254450968 15q21.2 15 50465074C> A null T K 190 190 missense 0.023 benign 0.84 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs867689830 15q21.2 15 50465077T> A null M K 191 191 missense 0.853 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs200067725 15q21.2 15 50465076A> G null M V 191 191 missense 0.297 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1473529488 15q21.2 15 50465081G> A null M I 192 192 missense 0.204 benign 0.22 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs572385653 15q21.2 15 50465080T> C null M T 192 192 missense 0.027 benign 0.06 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs368365577 15q21.2 15 50465083C> A null T K 193 193 missense 0.0 benign 1.0 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 NCI-TCGA,TOPMed,gnomAD rs368365577 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:21720365,cosmic_study:331 15q21.2 15 50465083C> T null T M 193 193 missense 0.0 benign 0.18 tolerated 1 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147742292 [ClinVar]: Hereditary spastic paraplegia 15q21.2 15 50465088A> G null K E 195 195 0.001597 missense 0.0 benign 0.24 tolerated 0 Hereditary spastic paraplegia MIM:PS303350 pubmed:20301682,ClinVar:RCV000633122 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs937524145 15q21.2 15 50465092A> C null N T 196 196 missense 0.001 benign 0.48 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1370946899 15q21.2 15 50465096C> G null I M 197 197 missense 0.583 possibly damaging 0.06 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs751456417 15q21.2 15 50465100T> A null L M 199 199 missense 0.794 possibly damaging 0.05 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs754887241 15q21.2 15 50465103A> C null I L 200 200 missense 0.011 benign 0.51 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs754887241 15q21.2 15 50465103A> G null I V 200 200 missense 0.106 benign 0.05 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ExAC,gnomAD rs568390027 15q21.2 15 50465108A> G null I M 201 201 2.0E-4 missense 0.861 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1334052082 15q21.2 15 50465106A> G null I V 201 201 missense 0.01 benign 0.5 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1359291088 15q21.2 15 50465119G> A null R Q 205 205 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1244464615 15q21.2 15 50465136C> A null Q K 211 211 missense 0.023 benign 0.11 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs893188424 15q21.2 15 50465137A> G null Q R 211 211 missense 0.005 benign 0.04 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150245386 [ClinVar]: Hereditary spastic paraplegia 15q21.2 15 50465139G> A null D N 212 212 9.98E-4 missense 0.023 benign 0.05 tolerated 0 Hereditary spastic paraplegia MIM:PS303350 pubmed:20301682,ClinVar:RCV000876098 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes rs199774545 15q21.2 15 50465146G> A null C Y 214 214 3.99E-4 missense 0.075 benign 0.07 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP rs375828318 15q21.2 15 50465148A> G null I V 215 215 missense 0.978 probably damaging 0.05 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1343385612 15q21.2 15 50465161T> C null L P 219 219 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs767324330 15q21.2 15 50465163A> G null S G 220 220 missense 0.43 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140695550 15q21.2 15 50465164G> A null S N 220 220 7.99E-4 missense 0.434 benign 0.22 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1248028178 15q21.2 15 50465167T> C null V A 221 221 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1443618535 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.2 15 50465169C> T null P S 222 222 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,NCI-TCGA,gnomAD rs772324296 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 15q21.2 15 50465172G> A null E K 223 223 missense 0.994 probably damaging 0.12 tolerated 1 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1442631960 15q21.2 15 50465178G> A null A T 225 225 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1170430569 15q21.2 15 50465179C> T null A V 225 225 missense 0.998 probably damaging 0.05 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC rs775862620 15q21.2 15 50465184A> G null S G 227 227 missense 0.065 benign 0.05 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs747318682 15q21.2 15 50465185G> T null S I 227 227 missense 0.021 benign 0.07 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs769270133 15q21.2 15 50465191G> C null G A 229 229 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs769270133 15q21.2 15 50465191G> A null G E 229 229 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs928608253 15q21.2 15 50471634G> A null V I 230 230 missense 0.007 benign 0.7 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1389954512 15q21.2 15 50471637A> G null T A 231 231 missense 0.661 possibly damaging 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs773766828 15q21.2 15 50471640G> C null A P 232 232 missense 0.613 possibly damaging 0.05 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1293795192 15q21.2 15 50471646T> A null W R 234 234 missense 0.0 benign 0.82 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1233871340 15q21.2 15 50471653A> C null E A 236 236 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs757443139 15q21.2 15 50471668A> G null D G 241 241 missense 0.181 benign 0.05 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs757443139 15q21.2 15 50471668A> T null D V 241 241 missense 0.245 benign 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs779069079 15q21.2 15 50471677A> C null K T 244 244 missense 0.852 possibly damaging 0.03 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1194258404 15q21.2 15 50471681C> G null D E 245 245 missense 0.001 benign 0.8 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs988856200 15q21.2 15 50471679G> A null D N 245 245 missense 0.23 benign 0.04 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1381693745 15q21.2 15 50471695G> C null R T 250 250 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201806528 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.2 15 50471701A> G null N S 252 252 3.99E-4 missense 0.0 benign 0.53 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs374045855 15q21.2 15 50471710A> G null Y C 255 255 missense 0.033 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs374045855 15q21.2 15 50471710A> T null Y F 255 255 missense 0.006 benign 0.06 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1039138794 15q21.2 15 50471712G> A null V M 256 256 missense 0.973 probably damaging 0.05 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1200366362 15q21.2 15 50471718C> G null L V 258 258 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs772655890 15q21.2 15 50471721C> A null L I 259 259 missense 0.773 possibly damaging 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1566868574 15q21.2 15 50471739G> C null A P 265 265 missense 0.349 benign 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1161410933 15q21.2 15 50471744A> C null K N 266 266 missense 0.007 benign 0.35 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs762359568 15q21.2 15 50471743A> G null K R 266 266 missense 0.001 benign 0.23 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61751062 [ClinVar]: Hereditary spastic paraplegia 15q21.2 15 50471748T> A null L I 268 268 0.008387 missense 0.998 probably damaging 0.01 deleterious 0 Hereditary spastic paraplegia MIM:PS303350 pubmed:20301682,ClinVar:RCV000535635 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs933539606 15q21.2 15 50471752A> G null Q R 269 269 missense 0.003 benign 0.4 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs771076618 15q21.2 15 50471756T> G null I M 270 270 missense 0.076 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1052363268 15q21.2 15 50471754A> G null I V 270 270 missense 0.0 benign 0.29 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs759395527 15q21.2 15 50471763A> G null T A 273 273 missense 0.41 benign 0.04 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs373688387 15q21.2 15 50471766C> G null L V 274 274 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376852674 15q21.2 15 50471770G> T null R L 275 275 2.0E-4 missense 0.155 benign 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376852674 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.2 15 50471770G> A null R Q 275 275 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,dbSNP,gnomAD rs752682936 [ClinVar]: Hereditary spastic paraplegia 15q21.2 15 50471769C> T null R W 275 275 missense 0.83 possibly damaging 0.09 tolerated 0 Hereditary spastic paraplegia MIM:PS303350 pubmed:20301682,ClinVar:RCV000633119 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs750582663 15q21.2 15 50471774T> G null S R 276 276 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs780374316 15q21.2 15 50471776T> C null L P 277 277 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs758377463 15q21.2 15 50471775C> G null L V 277 277 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs751685494 15q21.2 15 50471779A> G null K R 278 278 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs755368712 15q21.2 15 50471782A> T null D V 279 279 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs774737015 15q21.2 15 50471791T> C null F S 282 282 missense 0.585 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1009978860 15q21.2 15 50476849T> C null W R 284 284 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs772002457 15q21.2 15 50476856G> A null S N 286 286 missense 0.006 benign 0.09 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs775483439 15q21.2 15 50476862C> T null T I 288 288 missense 0.361 benign 0.08 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs775483439 15q21.2 15 50476862C> G null T S 288 288 missense 0.005 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,dbSNP rs143070181 [ClinVar]: Hereditary spastic paraplegia 15q21.2 15 50476864G> A null V I 289 289 missense 0.0 benign 1.0 tolerated 0 Hereditary spastic paraplegia MIM:PS303350 pubmed:20301682,ClinVar:RCV000691735 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1360015521 15q21.2 15 50476868T> C null L P 290 290 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs763116964 15q21.2 15 50476870C> T null R C 291 291 missense 0.801 possibly damaging 0.05 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs766331208 15q21.2 15 50476871G> A null R H 291 291 missense 0.007 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs766331208 15q21.2 15 50476871G> T null R L 291 291 missense 0.194 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ExAC,TOPMed,gnomAD rs138148339 15q21.2 15 50476885G> A null V I 296 296 9.98E-4 missense 0.035 benign 0.23 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1258394432 15q21.2 15 50476904A> G null E G 302 302 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs770476927 15q21.2 15 50476909T> C null W R 304 304 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs934743001 [NCI-TCGA]: Variant assessed as Somatic; impact. 15q21.2 15 50476921T> C null Y H 308 308 missense 0.752 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl,dbSNP rs587777201 [UniProt]: found in a patient with spastic paraplegia; unknown pathological significance pubmed:24482476 pubmed:24482476 15q21.2 15 50476927C> A null Q K 310 310 missense 0.148 benign 0.08 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1566873330 [NCI-TCGA]: Variant assessed as Somatic; impact. 15q21.2 15 50476936A> T null T S 313 313 missense 0.043 benign 0.12 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs771916790 15q21.2 15 50476940A> T null N I 314 314 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1460177010 15q21.2 15 50476948G> T null V F 317 317 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs746847194 15q21.2 15 50476955C> T null P L 319 319 missense 0.095 benign 0.12 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs768289348 15q21.2 15 50476957C> T null P S 320 320 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs776663696 15q21.2 15 50476961C> T null P L 321 321 missense 0.026 benign 0.03 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs776663696 15q21.2 15 50476961C> A null P Q 321 321 missense 0.001 benign 0.44 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs776663696 15q21.2 15 50476961C> G null P R 321 321 missense 0.0 benign 0.34 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs148200969 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.2 15 50476964G> A null R Q 322 322 2.0E-4 missense 0.478 possibly damaging 0.29 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,gnomAD rs141527925 15q21.2 15 50476966C> T null R C 323 323 missense 0.109 benign 0.05 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,NCI-TCGA,gnomAD rs759611314 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.2 15 50476967G> A null R H 323 323 missense 0.058 benign 0.15 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1307099388 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 15q21.2 15 50476970A> G null Q R 324 324 missense 0.0 benign 0.33 tolerated 1 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs767770227 15q21.2 15 50476972A> G null N D 325 325 missense 0.025 benign 0.32 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1257779924 15q21.2 15 50476973A> C null N T 325 325 missense 0.0 benign 0.74 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1374375591 15q21.2 15 50476976A> G null E G 326 326 missense 0.718 possibly damaging 0.34 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1461878218 15q21.2 15 50476981G> A null V M 328 328 missense 0.936 probably damaging 0.03 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs756499295 15q21.2 15 50476988T> A null I N 330 330 missense 0.259 benign 0.06 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373961591 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.2 15 50476987A> G null I V 330 330 missense 0.0 benign 1.0 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs764295931 15q21.2 15 50476991C> T null S L 331 331 missense 0.987 probably damaging 0.46 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs757610253 15q21.2 15 50477280T> G null D E 333 333 missense 0.14 benign 0.16 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs892967581 15q21.2 15 50477279A> G null D G 333 333 missense 0.243 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1438402880 15q21.2 15 50477299G> A null E K 340 340 missense 0.978 probably damaging 0.03 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs779640512 15q21.2 15 50477304A> C null E D 341 341 missense 0.775 possibly damaging 0.06 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202174816 15q21.2 15 50477303A> G null E G 341 341 5.99E-4 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ExAC,gnomAD rs572462098 15q21.2 15 50477306C> T null S L 342 342 2.0E-4 missense 0.023 benign 0.06 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs780897382 15q21.2 15 50477310T> G null I M 343 343 missense 0.018 benign 0.07 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs754644935 15q21.2 15 50477308A> G null I V 343 343 missense 0.0 benign 1.0 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1202208945 15q21.2 15 50477315C> T null S F 345 345 missense 0.0 benign 0.07 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61733869 [ClinVar]: Hereditary spastic paraplegia 15q21.2 15 50477323G> A null A T 348 348 0.01178 missense 0.0 benign 0.63 tolerated 0 Hereditary spastic paraplegia MIM:PS303350 pubmed:20301682,ClinVar:RCV000559198 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs769611703 15q21.2 15 50477327C> G null A G 349 349 missense 0.077 benign 0.07 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1273356428 15q21.2 15 50477326G> C null A P 349 349 missense 0.266 benign 0.23 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ExAC,TOPMed,gnomAD rs561403213 15q21.2 15 50477333C> T null T M 351 351 0.002596 missense 0.0 benign 0.19 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1270091071 15q21.2 15 50477332A> C null T P 351 351 missense 0.015 benign 0.3 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1485402491 15q21.2 15 50477338C> A null P T 353 353 missense 0.003 benign 0.07 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1253329438 15q21.2 15 50477342C> T null A V 354 354 missense 0.003 benign 0.32 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs775600591 15q21.2 15 50477347A> G null I V 356 356 missense 0.0 benign 1.0 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1407040575 15q21.2 15 50477358T> G null D E 359 359 missense 0.0 benign 0.62 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs776889830 15q21.2 15 50477366T> C null I T 362 362 missense 0.0 benign 0.61 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,dbSNP,gnomAD rs768800460 [ClinVar]: Hereditary spastic paraplegia 15q21.2 15 50477365A> G null I V 362 362 missense 0.0 benign 0.37 tolerated 0 Hereditary spastic paraplegia MIM:PS303350 pubmed:20301682,ClinVar:RCV000532955 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1301593548 15q21.2 15 50477373G> C null L F 364 364 missense 0.0 benign 0.41 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs762105717 15q21.2 15 50477374A> G null I V 365 365 missense 0.0 benign 0.4 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs890063015 15q21.2 15 50477377A> G null S G 366 366 missense 0.001 benign 0.37 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1443085002 15q21.2 15 50477379T> G null S R 366 366 missense 0.001 benign 0.19 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs750971374 15q21.2 15 50477385A> C null Q H 368 368 missense 0.0 benign 0.11 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,NCI-TCGA,gnomAD rs763497996 [NCI-TCGA]: Variant assessed as Somatic; impact. 15q21.2 15 50477387A> G null N S 369 369 missense 0.0 benign 0.42 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1292891887 15q21.2 15 50477389G> A null E K 370 370 missense 0.0 benign 0.42 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1359249352 15q21.2 15 50477401C> A null P T 374 374 missense 0.0 benign 0.07 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs766979897 15q21.2 15 50477405T> G null L R 375 375 missense 0.172 benign 0.08 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs751182745 15q21.2 15 50477409T> A null N K 376 376 missense 0.0 benign 0.26 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1180408983 15q21.2 15 50477412A> G null I M 377 377 missense 0.009 benign 0.16 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ExAC,TOPMed,gnomAD rs373704916 15q21.2 15 50477410A> G null I V 377 377 2.0E-4 missense 0.0 benign 0.84 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1230680792 15q21.2 15 50477417C> T null T I 379 379 missense 0.003 benign 0.15 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs142618983 15q21.2 15 50477423T> C null V A 381 381 missense 0.0 benign 0.63 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1446305382 15q21.2 15 50477422G> A null V I 381 381 missense 0.0 benign 0.61 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,dbSNP,gnomAD rs755896571 15q21.2 15 50477429C> T null P L 383 383 missense 0.086 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs755896571 15q21.2 15 50477429C> A null P Q 383 383 missense 0.466 possibly damaging 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs752348753 15q21.2 15 50477428C> T null P S 383 383 missense 0.118 benign 0.11 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,TOPMed,gnomAD rs199817887 15q21.2 15 50477431G> T null V F 384 384 missense 0.034 benign 0.07 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1328189016 15q21.2 15 50477438C> A null A D 386 386 missense 0.0 benign 0.23 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1410773589 15q21.2 15 50477437G> A null A T 386 386 missense 0.0 benign 0.43 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1566874127 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:23619168,cosmic_study:561 15q21.2 15 50477441C> G null S C 387 387 missense 0.436 benign 0.03 deleterious 1 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150568948 [ClinVar]: Hereditary spastic paraplegia 15q21.2 15 50477443A> G null K E 388 388 0.003794 missense 0.055 benign 0.53 tolerated 0 Hereditary spastic paraplegia MIM:PS303350 pubmed:20301682,ClinVar:RCV000633125 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,gnomAD rs368766733 15q21.2 15 50477451T> A null D E 390 390 missense 0.001 benign 0.21 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1316439497 15q21.2 15 50477461A> G null I V 394 394 missense 0.0 benign 0.92 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs747106169 15q21.2 15 50477464A> G null I V 395 395 missense 0.0 benign 1.0 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1244304180 15q21.2 15 50477471C> T null P L 397 397 missense 0.276 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1206230135 15q21.2 15 50477477C> G null P R 399 399 missense 0.055 benign 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1393917124 15q21.2 15 50477483T> A null I K 401 401 missense 0.0 benign 0.17 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs776747250 15q21.2 15 50477494C> T null P S 405 405 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs745776500 15q21.2 15 50481487C> T null R C 409 409 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs114434131 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.2 15 50481488G> A null R H 409 409 2.0E-4 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114434131 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q21.2 15 50481488G> T null R L 409 409 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs745776500 15q21.2 15 50481487C> A null R S 409 409 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs781276238 15q21.2 15 50481491C> T null T I 410 410 missense 0.193 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs781276238 15q21.2 15 50481491C> G null T S 410 410 missense 0.003 benign 0.46 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1177155562 15q21.2 15 50481506T> G null V G 415 415 missense 0.047 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs748164919 15q21.2 15 50481522G> T null E D 420 420 missense 0.0 benign 1.0 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs770207958 15q21.2 15 50481523C> T null H Y 421 421 missense 0.044 benign 0.26 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs963012530 15q21.2 15 50481528A> T null R S 422 422 missense 0.0 benign 0.23 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1291210594 15q21.2 15 50481529A> G null I V 423 423 missense 0.0 benign 1.0 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1386090874 15q21.2 15 50481541A> G null S G 427 427 missense 0.007 benign 0.19 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs773537203 15q21.2 15 50481542G> A null S N 427 427 missense 0.0 benign 0.25 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1347165024 15q21.2 15 50481543T> A null S R 427 427 missense 0.0 benign 0.1 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs749722937 15q21.2 15 50481549C> A null N K 429 429 missense 0.0 benign 0.92 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1346962267 15q21.2 15 50481550C> T null H Y 430 430 missense 0.0 benign 1.0 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1241096521 15q21.2 15 50481560A> C null Q P 433 433 missense 0.0 benign 0.38 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1349659067 15q21.2 15 50481563C> T null S F 434 434 missense 0.0 benign 0.67 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1262812755 15q21.2 15 50481562T> C null S P 434 434 missense 0.0 benign 0.44 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1032238662 15q21.2 15 50481565C> T null P S 435 435 missense 0.0 benign 0.85 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs767894854 15q21.2 15 50481571A> G null S G 437 437 missense 0.003 benign 0.01 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs775130274 15q21.2 15 50481572G> A null S N 437 437 missense 0.0 benign 1.0 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs760142757 15q21.2 15 50481575G> T null G V 438 438 missense 0.718 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3743044 [ClinVar]: Hereditary spastic paraplegia 15q21.2 15 50481590A> G null D G 443 443 0.04992 missense 0.994 probably damaging 0.01 deleterious 0 Hereditary spastic paraplegia MIM:PS303350 pubmed:20301682,ClinVar:RCV000542854 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs148244041 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 15q21.2 15 50481592C> T null R C 444 444 0.002596 missense 0.994 probably damaging 0.02 deleterious 1 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs757075119 15q21.2 15 50481593G> A null R H 444 444 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148244041 15q21.2 15 50481592C> A null R S 444 444 0.002596 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs765014060 15q21.2 15 50481598A> G null T A 446 446 missense 0.079 benign 0.14 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs750339367 15q21.2 15 50481599C> T null T I 446 446 missense 0.154 benign 0.09 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1314956032 15q21.2 15 50481610G> A null V I 450 450 missense 0.0 benign 0.42 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs779852315 15q21.2 15 50481619C> G null P A 453 453 missense 0.0 benign 0.26 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1367863703 15q21.2 15 50481622A> G null T A 454 454 missense 0.0 benign 0.33 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs748300775 15q21.2 15 50481626T> C null L P 455 455 missense 0.0 benign 0.22 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,TOPMed,gnomAD rs748300775 15q21.2 15 50481626T> G null L R 455 455 missense 0.0 benign 0.45 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs778167683 15q21.2 15 50481628A> G null M V 456 456 missense 0.0 benign 0.69 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1307116996 15q21.2 15 50481634A> G null T A 458 458 missense 0.206 benign 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1335058895 15q21.2 15 50481638A> G null D G 459 459 missense 0.0 benign 0.05 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1236804285 15q21.2 15 50481647A> C null K T 462 462 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs771430115 15q21.2 15 50481652C> T null R C 464 464 missense 0.451 possibly damaging 0.03 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376376613 [NCI-TCGA]: Variant assessed as Somatic; impact. 15q21.2 15 50481653G> A null R H 464 464 missense 0.001 benign 0.22 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1351203958 15q21.2 15 50481655A> T null I F 465 465 missense 0.282 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1487640030 15q21.2 15 50481657T> G null I M 465 465 missense 0.372 benign 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1566877628 15q21.2 15 50481659A> G null H R 466 466 missense 0.116 benign 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1178981965 15q21.2 15 50481665A> T null E V 468 468 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 ExAC,gnomAD rs774487136 15q21.2 15 50481674T> C null L P 471 471 missense 0.094 benign 0.19 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs975531155 15q21.2 15 50481676C> G null L V 472 472 missense 0.012 benign 0.24 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed,gnomAD rs1177380547 15q21.2 15 50481685A> G null K E 475 475 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 TOPMed rs1056572 15q21.2 15 50481690C> A null N K 476 476 missense 0.037 benign 0.1 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1056573 15q21.2 15 50481694C> A null Q K 478 478 missense 0.0 benign 0.24 tolerated 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 gnomAD rs1386778482 15q21.2 15 50481698A> G null E G 479 479 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B720 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Ensembl rs1056574 15q21.2 15 50481697G> A null E K 479 479 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs752728079 18q21.2 18 55585331T> C null S G 8 8 missense 0.0 benign 0.14 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555782777 18q21.2 18 55585325T> A null K * 10 10 missense 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555782767 18q21.2 18 55585319C> A null G * 12 12 missense 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555782749 18q21.2 18 55585306A> T null L * 16 16 missense 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs796053423 18q21.2 18 55585301T> C null S G 18 18 missense 0.015 benign 0.37 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555782733 18q21.2 18 55585298C> A null G * 19 19 missense 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs932137046 18q21.2 18 55464137T> C null N S 25 25 missense 0.045 benign 0.03 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs755628496 18q21.2 18 55464135C> T null V I 26 26 missense 0.003 benign 0.31 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs755628496 18q21.2 18 55464135C> A null V L 26 26 missense 0.0 benign 1.0 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555672082 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 18q21.2 18 55464132C> A null E * 27 27 missense 1 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed rs1054033285 18q21.2 18 55464126T> A null R * 29 29 missense 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed rs1054033285 18q21.2 18 55464126T> C null R G 29 29 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs750116965 18q21.2 18 55464122C> T null S N 30 30 missense 0.01 benign 0.12 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555672063 18q21.2 18 55464107C> T null W * 35 35 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1312423782 18q21.2 18 55464106C> T null W * 35 35 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1312423782 18q21.2 18 55464106C> G null W C 35 35 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs1555672050 [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55464101T> C null N S 37 37 missense 0.0 benign 0.69 tolerated 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000645477 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555672045 18q21.2 18 55464099C> A null G * 38 38 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555672033 18q21.2 18 55464096C> A null G * 39 39 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs751862363 18q21.2 18 55464090G> A null P S 41 41 missense 0.0 benign 0.49 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs764665729 18q21.2 18 55464086C> G null S T 42 42 missense 0.018 benign 0.03 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs763329139 18q21.2 18 55464083G> A null P L 43 43 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs769809414 18q21.2 18 55464077C> A null R M 45 45 missense 0.623 possibly damaging 0.01 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs759654604 18q21.2 18 55464076C> G null R S 45 45 missense 0.013 benign 0.01 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) 1000Genomes,ExAC,dbSNP,gnomAD rs200359873 [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55461114T> C null N S 46 46 2.0E-4 missense 0.0 benign 0.75 tolerated 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000546702 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,dbSNP,gnomAD rs763349461 [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55461111T> C null Y C 47 47 missense 0.986 probably damaging 0.0 deleterious 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000389599 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555669501 18q21.2 18 55461109C> A null G * 48 48 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1276818862 18q21.2 18 55461102C> G null G A 50 50 missense 0.386 benign 0.07 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs567398278 [ClinVar]: History of neurodevelopmental disorder, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.2 18 55461100T> C null T A 51 51 2.0E-4 missense 0.0 benign 0.78 tolerated 0 History of neurodevelopmental disorder ClinVar:RCV000720853 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs759745539 18q21.2 18 55461096G> T null P H 52 52 missense 0.0 benign 1.0 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs866407383 18q21.2 18 55461097G> A null P S 52 52 missense 0.001 benign 0.05 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs76646268 18q21.2 18 55461093T> C null Y C 53 53 missense 0.733 possibly damaging 0.01 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1437018604 18q21.2 18 55461091C> G null D H 54 54 missense 0.087 benign 0.01 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs957698131 18q21.2 18 55461088G> C null H D 55 55 missense 0.003 benign 0.26 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs532294589 cosmic curated [ClinVar]: Pitt-Hopkins syndrome, [Cosmic]: lung cosmic_study:417 18q21.2 18 55461083C> T null M I 56 56 3.99E-4 missense 0.091 benign 0.16 tolerated 1 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV001089294 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1266156247 18q21.2 18 55461084A> C null M R 56 56 missense 0.184 benign 0.14 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs113943820 18q21.2 18 55461085T> C null M V 56 56 missense 0.091 benign 0.22 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,dbSNP,gnomAD rs760934731 [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55461081G> T null T N 57 57 missense 0.634 possibly damaging 0.49 tolerated 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000534839 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs760934731 18q21.2 18 55461081G> C null T S 57 57 missense 0.24 benign 0.94 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,TOPMed,gnomAD rs773462232 18q21.2 18 55461078C> T null S N 58 58 missense 0.0 benign 0.23 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1327666670 18q21.2 18 55461060T> G null H P 64 64 missense 0.32 benign 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1285313604 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.2 18 55461057T> C null D G 65 65 missense 0.001 benign 0.29 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ESP,ExAC,TOPMed,dbSNP,gnomAD rs143244149 [ClinVar]: History of neurodevelopmental disorder, [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55461054T> C null N S 66 66 missense 0.0 benign 0.99 tolerated 0 History of neurodevelopmental disorder ClinVar:RCV000719625 A0A075B723 TCF4 Transcription factor 4 (Fragment) ESP,ExAC,TOPMed,dbSNP,gnomAD rs143244149 [ClinVar]: History of neurodevelopmental disorder, [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55461054T> C null N S 66 66 missense 0.0 benign 0.99 tolerated 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000332791 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,dbSNP,gnomAD rs779916094 [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55461043G> A null P S 70 70 missense 0.201 benign 0.15 tolerated 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000697776 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs769663296 18q21.2 18 55461036A> C null V G 72 72 missense 0.033 benign 0.21 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs1568107383 [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55461033T> C null N S 73 73 missense 0.042 benign 0.41 tolerated 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000695717 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555669226 18q21.2 18 55461028T> A null R * 75 75 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555669214 18q21.2 18 55461022G> A null Q * 77 77 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,TOPMed,gnomAD rs780638244 18q21.2 18 55461019T> A null S C 78 78 missense 0.227 benign 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs796053413 [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55403518C> T null S N 78 78 missense 0.019 benign 0.01 deleterious 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000560032 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,TOPMed,gnomAD rs780638244 18q21.2 18 55461019T> G null S R 78 78 missense 0.054 benign 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs774209055 18q21.2 18 55403517A> C null S R 78 78 missense 0.054 benign 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1450892121 18q21.2 18 55403516T> A null K * 79 79 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1450892121 18q21.2 18 55403516T> C null K E 79 79 missense 0.439 benign 0.01 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed rs1433475087 18q21.2 18 55403515T> C null K R 79 79 missense 0.622 possibly damaging 0.01 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1556051815 18q21.2 18 55403510C> A null E * 81 81 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,TOPMed,gnomAD rs749677962 18q21.2 18 55403503C> T null G D 83 83 missense 0.05 benign 0.03 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,TOPMed,gnomAD rs749677962 18q21.2 18 55403503C> A null G V 83 83 missense 0.003 benign 0.07 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs112222111 18q21.2 18 55403501A> G null S P 84 84 missense 0.0 benign 0.83 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1230192802 18q21.2 18 55403494G> A null S L 86 86 missense 0.007 benign 0.35 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed rs1363020706 18q21.2 18 55403489A> G null Y H 88 88 missense 0.066 benign 0.02 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs1556050492 [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55403486C> G null G R 89 89 missense 0.806 possibly damaging 0.0 deleterious 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000533793 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1556050112 18q21.2 18 55403483T> A null R * 90 90 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139876825 [ClinVar]: History of neurodevelopmental disorder, [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55403482C> T null R K 90 90 2.0E-4 missense 0.242 benign 0.03 deleterious 0 History of neurodevelopmental disorder ClinVar:RCV000716270 A0A075B723 TCF4 Transcription factor 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139876825 [ClinVar]: History of neurodevelopmental disorder, [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55403482C> T null R K 90 90 2.0E-4 missense 0.242 benign 0.03 deleterious 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV001087507 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs867124521 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 18q21.2 18 55403480C> A null E * 91 91 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs867124521 18q21.2 18 55403480C> T null E K 91 91 missense 0.015 benign 0.02 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs867124521 18q21.2 18 55403480C> G null E Q 91 91 missense 0.001 benign 0.23 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed,gnomAD rs1239308094 18q21.2 18 55403476G> A null S L 92 92 missense 0.34 benign 0.05 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs781517224 18q21.2 18 55403474T> C null N D 93 93 missense 0.003 benign 0.07 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed rs1368536124 18q21.2 18 55403468G> C null Q E 95 95 missense 0.003 benign 0.13 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs757421412 18q21.2 18 55403467T> C null Q R 95 95 missense 0.015 benign 0.11 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1556048966 18q21.2 18 55403460G> T null C * 97 97 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555919242 18q21.2 18 55351003G> A null Q * 100 100 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs755996702 18q21.2 18 55351000T> A null S C 101 101 missense 0.608 possibly damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed,gnomAD rs1372478845 18q21.2 18 55350999C> T null S N 101 101 missense 0.013 benign 0.02 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs750130851 18q21.2 18 55350998A> C null S R 101 101 missense 0.184 benign 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555919188 18q21.2 18 55350991C> A null G * 104 104 missense 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs796053414 18q21.2 18 55350984T> C null D G 106 106 missense 0.394 benign 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1168010407 18q21.2 18 55350972C> G null G A 110 110 missense 0.0 benign 1.0 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555919108 18q21.2 18 55350964C> A null G * 113 113 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs796053415 18q21.2 18 55350963C> T null G E 113 113 missense 0.003 benign 0.04 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs146412750 18q21.2 18 55350961T> C null T A 114 114 missense 0.0 benign 0.87 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs796053416 [ClinVar]: History of neurodevelopmental disorder 18q21.2 18 55350960G> C null T S 114 114 missense 0.001 benign 0.54 tolerated 0 History of neurodevelopmental disorder ClinVar:RCV000718407 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs867999603 18q21.2 18 55350954G> T null S * 116 116 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs867999603 18q21.2 18 55350954G> A null S L 116 116 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1484443997 18q21.2 18 55350948G> A null T I 118 118 missense 0.693 possibly damaging 0.06 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555918874 18q21.2 18 55350946T> A null K * 119 119 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ESP,ExAC,gnomAD rs373731942 18q21.2 18 55350940C> A null G C 121 121 missense 0.613 possibly damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs775275794 18q21.2 18 55350937A> G null S P 122 122 missense 0.709 possibly damaging 0.01 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555918802 18q21.2 18 55350934G> A null Q * 123 123 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1340987314 18q21.2 18 55350930T> A null Y F 124 124 missense 0.025 benign 0.59 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1569138231 18q21.2 18 55350918G> C null S C 128 128 missense 0.416 benign 0.17 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1272956318 18q21.2 18 55350912T> C null N S 130 130 missense 0.0 benign 1.0 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs200889338 [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55350907G> T null P T 132 132 2.0E-4 missense 0.066 benign 0.02 deleterious 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000822946 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs587784464 cosmic curated [ClinVar]: Pitt-Hopkins syndrome, [Cosmic]: central_nervous_system cosmic_study:379 18q21.2 18 55350904G> A null R * 133 133 missense 1 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000147723 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed,dbSNP rs1438864984 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.2 18 55350903C> T null R Q 133 133 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs759957286 18q21.2 18 55350895G> T null P T 136 136 missense 0.011 benign 0.04 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) dbSNP,gnomAD rs755353080 [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55350892G> A null L F 137 137 missense 0.001 benign 0.58 tolerated 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000817906 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1569137808 18q21.2 18 55350891A> C null L R 137 137 missense 0.176 benign 0.29 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1474917865 18q21.2 18 55350886T> C null S G 139 139 missense 0.0 benign 0.39 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1352457501 18q21.2 18 55350882C> A null S I 140 140 missense 0.017 benign 0.06 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1035481828 18q21.2 18 55350880C> T null A T 141 141 missense 0.0 benign 0.63 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed,gnomAD rs1308681272 18q21.2 18 55350877T> C null M V 142 142 missense 0.007 benign 0.17 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555918520 18q21.2 18 55350874C> A null E * 143 143 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed rs1161882329 18q21.2 18 55350405A> G null V A 144 144 missense 0.003 benign 0.68 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs758036485 18q21.2 18 55350406C> T null V I 144 144 missense 0.001 benign 0.21 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555917595 18q21.2 18 55350403G> A null Q * 145 145 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1348867155 18q21.2 18 55350402T> C null Q R 145 145 missense 0.115 benign 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs796053417 18q21.2 18 55350400T> C null T A 146 146 missense 0.0 benign 0.16 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555917558 18q21.2 18 55350397T> A null K * 147 147 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555917542 18q21.2 18 55350394T> A null K * 148 148 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs878853149 cosmic curated [ClinVar]: Pitt-Hopkins syndrome, [Cosmic]: endometrium, [ClinVar]: Global developmental delay, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:29695756,cosmic_study:419 18q21.2 18 55350388G> A null R * 150 150 missense 1 Global developmental delay (DD) pubmed:21956720,ClinVar:RCV001195730 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs878853149 cosmic curated [ClinVar]: Pitt-Hopkins syndrome, [Cosmic]: endometrium, [ClinVar]: Global developmental delay, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:29695756,cosmic_study:419 18q21.2 18 55350388G> A null R * 150 150 missense 1 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000795184 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555917479 18q21.2 18 55350385T> A null K * 151 151 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs868465337 18q21.2 18 55350367G> A null P S 157 157 missense 0.164 benign 0.01 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1416409753 18q21.2 18 55279652T> C null Y C 161 161 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,NCI-TCGA,gnomAD rs778907139 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 18q21.2 18 55279649G> A null A V 162 162 missense 0.935 probably damaging 0.07 tolerated 1 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1194038204 18q21.2 18 55279637C> T null S N 166 166 missense 0.726 possibly damaging 0.13 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,dbSNP,gnomAD rs753332007 18q21.2 18 55279635T> C null T A 167 167 missense 0.194 benign 0.07 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1044163650 18q21.2 18 55279629C> T null D N 169 169 missense 0.157 benign 0.01 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs932170353 18q21.2 18 55279623T> C null N D 171 171 missense 0.621 possibly damaging 0.09 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ESP,ExAC,TOPMed,dbSNP,gnomAD rs148573556 18q21.2 18 55279622T> C null N S 171 171 missense 0.043 benign 0.4 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs762209412 18q21.2 18 55279617C> T null D N 173 173 missense 0.972 probably damaging 0.03 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed,gnomAD rs1313604252 18q21.2 18 55279613G> T null S * 174 174 missense 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed,gnomAD rs1313604252 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.2 18 55279613G> A null S L 174 174 missense 0.792 possibly damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs144835402 18q21.2 18 55279602G> A null P S 178 178 missense 0.177 benign 0.19 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs144835402 18q21.2 18 55279602G> T null P T 178 178 missense 0.178 benign 0.12 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs868162712 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.2 18 55279598G> A null S F 179 179 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,gnomAD rs762952107 18q21.2 18 55279596A> G null S P 180 180 missense 0.026 benign 0.52 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555802962 18q21.2 18 55279593T> A null K * 181 181 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375899327 18q21.2 18 55279589G> A null P L 182 182 missense 0.162 benign 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1040642298 18q21.2 18 55279584T> C null T A 184 184 missense 0.0 benign 0.26 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1450223406 18q21.2 18 55279580C> T null S N 185 185 missense 0.03 benign 0.19 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1359797005 18q21.2 18 55279578T> C null T A 186 186 missense 0.02 benign 0.6 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,TOPMed,gnomAD rs776969005 18q21.2 18 55279573G> T null F L 187 187 missense 0.385 benign 0.04 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,TOPMed,gnomAD rs776969005 18q21.2 18 55279573G> C null F L 187 187 missense 0.385 benign 0.04 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1433071956 18q21.2 18 55279572G> A null P S 188 188 missense 0.724 possibly damaging 0.05 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) dbSNP,gnomAD rs1170209002 [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55279563A> C null F V 191 191 missense 0.668 possibly damaging 0.0 deleterious 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV000645476 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,TOPMed,gnomAD rs768573052 18q21.2 18 55279557T> G null M L 193 193 missense 0.083 benign 0.12 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,TOPMed,dbSNP,gnomAD rs768573052 [ClinVar]: History of neurodevelopmental disorder, [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55279557T> A null M L 193 193 missense 0.083 benign 0.12 tolerated 0 History of neurodevelopmental disorder ClinVar:RCV000720781 A0A075B723 TCF4 Transcription factor 4 (Fragment) ExAC,TOPMed,dbSNP,gnomAD rs768573052 [ClinVar]: History of neurodevelopmental disorder, [ClinVar]: Pitt-Hopkins syndrome 18q21.2 18 55279557T> A null M L 193 193 missense 0.083 benign 0.12 tolerated 0 Pitt-Hopkins syndrome (PTHS) Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. MIM:610954 pubmed:22934316,ClinVar:RCV001237542 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs1064796853 18q21.2 18 55279554G> A null Q * 194 194 stop gained 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs886041248 18q21.2 18 55279551C> T null D N 195 195 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1480547602 18q21.2 18 55275749C> T null G D 196 196 missense 0.821 possibly damaging 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs867075569 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.2 18 55275750C> T null G S 196 196 missense 0.406 benign 0.05 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed,gnomAD rs1224463683 18q21.2 18 55275744G> A null H Y 198 198 missense 0.402 benign 0.17 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1312371300 18q21.2 18 55275740C> T null S N 199 199 missense 0.961 probably damaging 0.03 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed,gnomAD rs1322809915 18q21.2 18 55275737C> A null S I 200 200 missense 0.101 benign 0.0 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed,gnomAD rs1322809915 18q21.2 18 55275737C> T null S N 200 200 missense 0.013 benign 0.01 deleterious 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl rs1555797219 18q21.2 18 55275727C> T null W * 203 203 missense 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) Ensembl,dbSNP rs1555797231 [ClinVar]: Inborn genetic diseases 18q21.2 18 55275728C> T null W * 203 203 missense 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000623798 A0A075B723 TCF4 Transcription factor 4 (Fragment) TOPMed,gnomAD rs1233945994 18q21.2 18 55275709C> T null M I 209 209 missense 0.018 benign 0.34 tolerated 0 A0A075B723 TCF4 Transcription factor 4 (Fragment) gnomAD rs1391010086 18q21.2 18 55275710A> G null M T 209 209 missense 0.258 benign 0.0 deleterious 0 A0A075B724 TUBB8 Tubulin beta-8 chain Ensembl,dbSNP rs869025273 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 pubmed:26789871 10p15.3 10 49234C> T null R K 2 2 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) MIM:616780 ClinVar:RCV000207037 A0A075B724 TUBB8 Tubulin beta-8 chain Ensembl,dbSNP rs869025273 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 pubmed:26789871 10p15.3 10 49234C> T null R K 2 2 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs199817418 10p15.3 10 49229T> G null I L 4 4 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782657768 10p15.3 10 49228A> G null I T 4 4 missense 0.382 benign 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1299875180 10p15.3 10 49226C> A null V L 5 5 missense 0.993 probably damaging 0.1 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554739056 10p15.3 10 49219G> A null T M 7 7 missense 0.116 benign 0.05 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed rs1340088110 10p15.3 10 49220T> A null T S 7 7 missense 0.576 possibly damaging 0.13 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs199981930 10p15.3 10 49213A> G null I T 9 9 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain Ensembl rs200919246 10p15.3 10 49214T> C null I V 9 9 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782066604 10p15.3 10 49211C> T null G R 10 10 missense 1.0 probably damaging 0.08 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782066604 10p15.3 10 49211C> A null G W 10 10 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1219810899 10p15.3 10 49208G> A null Q * 11 11 stop gained 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs201477872 10p15.3 10 49203G> T null C * 12 12 stop gained 0 A0A075B724 TUBB8 Tubulin beta-8 chain Ensembl rs1554739047 10p15.3 10 49204C> T null C Y 12 12 missense 0.006 benign 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554739045 10p15.3 10 49202C> T null G R 13 13 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed rs1467728799 10p15.3 10 49196G> A null Q * 15 15 stop gained 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554739042 10p15.3 10 49191G> C null I M 16 16 missense 0.998 probably damaging 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554739041 10p15.3 10 49190C> T null G S 17 17 missense 0.053 benign 0.04 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed rs1391508431 10p15.3 10 49182C> A null K N 19 19 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs371572684 10p15.3 10 48908C> T null W * 21 21 stop gained 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782378907 10p15.3 10 48909A> G null W R 21 21 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1156426805 10p15.3 10 48905T> C null E G 22 22 missense 0.225 benign 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738917 10p15.3 10 48906C> T null E K 22 22 missense 0.291 benign 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738915 10p15.3 10 48902A> T null V E 23 23 missense 0.544 possibly damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781964423 10p15.3 10 48896G> A null S F 25 25 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738912 10p15.3 10 48894C> T null D N 26 26 missense 0.995 probably damaging 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782190891 10p15.3 10 48886A> C null H Q 28 28 missense 0.994 probably damaging 0.05 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782303131 10p15.3 10 48888G> A null H Y 28 28 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782672679 10p15.3 10 48884G> A null A V 29 29 missense 0.756 possibly damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782646758 10p15.3 10 48877G> C null D E 31 31 missense 0.024 benign 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs34828119 10p15.3 10 48879C> G null D H 31 31 missense 0.951 probably damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain NCI-TCGA,gnomAD rs34828119 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48879C> T null D N 31 31 missense 0.63 possibly damaging 0.06 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs368410155 10p15.3 10 48878T> A null D V 31 31 missense 0.836 possibly damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782471513 10p15.3 10 48872G> C null A G 33 33 missense 0.288 benign 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,NCI-TCGA,TOPMed,gnomAD rs782698324 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48873C> A null A S 33 33 missense 0.28 benign 0.25 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782698324 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48873C> T null A T 33 33 missense 0.007 benign 1.0 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782471513 10p15.3 10 48872G> A null A V 33 33 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed rs1254452632 10p15.3 10 48862G> C null Y * 36 36 missense 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781887693 10p15.3 10 48861G> A null H Y 37 37 missense 0.453 possibly damaging 0.11 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738894 10p15.3 10 48853G> C null D E 39 39 missense 0.99 probably damaging 0.07 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782122091 10p15.3 10 48854T> C null D G 39 39 missense 0.995 probably damaging 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738893 10p15.3 10 48849G> A null H Y 41 41 missense 0.354 benign 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,TOPMed,gnomAD rs536693166 10p15.3 10 48846G> C null L V 42 42 3.99E-4 missense 0.437 benign 0.03 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738888 10p15.3 10 48833C> T null R H 46 46 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738888 10p15.3 10 48833C> G null R P 46 46 missense 0.701 possibly damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782400971 10p15.3 10 48831T> C null I V 47 47 missense 0.074 benign 0.1 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,gnomAD rs577701532 10p15.3 10 48827T> C null N S 48 48 2.0E-4 missense 0.121 benign 0.27 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1439749193 10p15.3 10 48822A> G null Y H 50 50 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1297880577 10p15.3 10 48819A> G null Y H 51 51 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782386217 10p15.3 10 48816T> C null N D 52 52 missense 0.163 benign 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782386217 10p15.3 10 48816T> G null N H 52 52 missense 0.006 benign 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782209980 10p15.3 10 48814G> C null N K 52 52 missense 0.02 benign 0.04 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1301386728 10p15.3 10 48815T> C null N S 52 52 missense 0.019 benign 0.03 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain Ensembl rs868955371 10p15.3 10 48813C> T null E K 53 53 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ESP,ExAC,gnomAD rs375210323 10p15.3 10 48809G> A null A V 54 54 missense 0.028 benign 0.05 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1277304584 10p15.3 10 48806C> T null S N 55 55 missense 0.453 possibly damaging 0.08 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781796292 10p15.3 10 48725C> G null G A 56 56 missense 0.819 possibly damaging 0.04 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,TOPMed,gnomAD rs558117453 10p15.3 10 48804C> T null G S 56 56 3.99E-4 missense 0.779 possibly damaging 0.18 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1320330977 10p15.3 10 48722C> T null G D 57 57 missense 0.884 possibly damaging 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782718809 10p15.3 10 48723C> T null G S 57 57 missense 0.271 benign 0.04 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1320330977 10p15.3 10 48722C> A null G V 57 57 missense 0.94 probably damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782042666 10p15.3 10 48719C> T null R K 58 58 missense 0.013 benign 1.0 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138641173 10p15.3 10 48715G> C null Y * 59 59 0.001597 missense 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1343467877 10p15.3 10 48717A> G null Y H 59 59 missense 0.997 probably damaging 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781958693 10p15.3 10 48711G> A null P S 61 61 missense 0.453 possibly damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782356429 10p15.3 10 48705C> A null A S 63 63 missense 0.072 benign 0.05 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,NCI-TCGA,gnomAD rs782356429 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48705C> T null A T 63 63 missense 0.024 benign 0.03 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782197532 10p15.3 10 48692T> C null D G 67 67 missense 0.995 probably damaging 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1333667632 10p15.3 10 48690G> T null L M 68 68 missense 0.858 possibly damaging 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782247878 10p15.3 10 48683G> A null P L 70 70 missense 0.024 benign 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738813 10p15.3 10 48680C> T null G D 71 71 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed rs1214993878 10p15.3 10 48675T> C null M V 73 73 missense 0.036 benign 0.08 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782458615 10p15.3 10 48671T> G null D A 74 74 missense 0.997 probably damaging 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738810 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48672C> T null D N 74 74 missense 0.995 probably damaging 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed rs1237977464 10p15.3 10 48668G> A null S F 75 75 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782505865 10p15.3 10 48666C> G null V L 76 76 missense 0.949 probably damaging 0.03 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,NCI-TCGA,TOPMed,gnomAD rs781874733 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48662C> T null R H 77 77 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140792516 10p15.3 10 48659G> A null S L 78 78 0.001797 missense 0.003 benign 0.05 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140792516 10p15.3 10 48659G> C null S W 78 78 0.001797 missense 0.878 possibly damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738799 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48653G> A null P L 80 80 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782804846 10p15.3 10 48654G> A null P S 80 80 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782384848 10p15.3 10 48649G> C null F L 81 81 missense 0.979 probably damaging 0.1 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1335517436 10p15.3 10 48639A> G null F L 85 85 missense 0.269 benign 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782710819 10p15.3 10 48616G> T null F L 92 92 missense 0.005 benign 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781838913 10p15.3 10 48617A> G null F S 92 92 missense 0.586 possibly damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782525832 10p15.3 10 48615C> G null V L 93 93 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782525832 10p15.3 10 48615C> T null V M 93 93 missense 0.003 benign 0.1 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,TOPMed,gnomAD rs533064864 10p15.3 10 48134G> A null T I 94 94 2.0E-4 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41289245 10p15.3 10 48132C> T null G S 95 95 0.00639 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782227150 10p15.3 10 48127A> C null C W 96 96 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,gnomAD rs527333526 10p15.3 10 48128C> T null C Y 96 96 2.0E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs199721823 10p15.3 10 48126C> A null A S 97 97 missense 0.578 possibly damaging 0.74 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs199721823 10p15.3 10 48126C> T null A T 97 97 missense 0.691 possibly damaging 0.57 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed rs1237109152 10p15.3 10 48125G> A null A V 97 97 missense 0.691 possibly damaging 0.29 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1470582730 10p15.3 10 48122A> G null V A 98 98 missense 0.0 benign 0.51 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738617 10p15.3 10 48123C> T null V I 98 98 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed rs1405835566 10p15.3 10 48120A> T null L I 99 99 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs9329308 10p15.3 10 48119A> G null L S 99 99 missense 0.0 benign 0.24 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs372253016 10p15.3 10 48117G> A null Q * 100 100 stop gained 0 A0A075B724 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs372253016 10p15.3 10 48117G> T null Q K 100 100 missense 0.0 benign 0.6 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed rs1377716023 10p15.3 10 48111T> C null S G 102 102 missense 0.0 benign 0.5 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738609 10p15.3 10 48105C> T null G R 104 104 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738609 10p15.3 10 48105C> A null G W 104 104 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140274064 10p15.3 10 48101G> A null P L 105 105 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140274064 10p15.3 10 48101G> T null P Q 105 105 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738607 10p15.3 10 48098T> G null E A 106 106 missense 0.001 benign 0.61 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,TOPMed,gnomAD rs561705922 10p15.3 10 48093T> C null T A 108 108 2.0E-4 missense 0.0 benign 0.58 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782039407 10p15.3 10 48092G> A null T I 108 108 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782039407 10p15.3 10 48092G> T null T N 108 108 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs151304401 10p15.3 10 48090C> G null G R 109 109 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs151304401 10p15.3 10 48090C> A null G W 109 109 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10904032 10p15.3 10 48086G> A null P L 110 110 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10904032 10p15.3 10 48086G> T null P Q 110 110 missense 0.0 unknown 0.18 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1208436307 10p15.3 10 48083C> T null R K 111 111 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1208436307 10p15.3 10 48083C> A null R M 111 111 missense 0.0 unknown 0.05 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs9329307 10p15.3 10 48078T> C null T A 113 113 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs9329307 10p15.3 10 48078T> G null T P 113 113 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs9329307 10p15.3 10 48078T> A null T S 113 113 missense 0.0 unknown 0.76 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782307404 10p15.3 10 48071G> A null P L 115 115 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782307404 10p15.3 10 48071G> T null P Q 115 115 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782307404 10p15.3 10 48071G> C null P R 115 115 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738591 10p15.3 10 48069T> G null K Q 116 116 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain gnomAD rs1554738589 10p15.3 10 48068T> C null K R 116 116 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs368995010 10p15.3 10 48066C> A null A S 117 117 missense 0.0 unknown 0.77 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs368995010 10p15.3 10 48066C> T null A T 117 117 missense 0.0 unknown 0.11 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs374716232 10p15.3 10 48065G> A null A V 117 117 missense 0.0 unknown 0.11 tolerated - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,TOPMed,gnomAD rs189074154 10p15.3 10 48062C> A null R L 118 118 3.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,TOPMed,gnomAD rs189074154 10p15.3 10 48062C> T null R Q 118 118 3.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782479203 10p15.3 10 48063G> A null R W 118 118 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B724 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782705807 10p15.3 10 48059C> T null S N 119 119 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782190891 10p15.3 10 48886A> C null M R 3 3 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782190891 10p15.3 10 48886A> G null M T 3 3 missense 0.0 unknown 0.29 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,TOPMed,gnomAD rs189206149 10p15.3 10 48883G> A null P L 4 4 3.99E-4 missense 0.0 unknown 0.11 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782672679 10p15.3 10 48884G> A null P S 4 4 missense 0.0 unknown 0.5 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738905 10p15.3 10 48880G> A null S L 5 5 missense 0.0 unknown 0.96 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782646758 10p15.3 10 48877G> A null T I 6 6 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782646758 10p15.3 10 48877G> C null T S 6 6 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs368410155 10p15.3 10 48878T> A null T S 6 6 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149334029 10p15.3 10 48874G> A null P L 7 7 0.005391 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149334029 10p15.3 10 48874G> T null P Q 7 7 0.005391 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782471513 10p15.3 10 48872G> C null L V 8 8 missense 0.0 unknown 0.49 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed rs1485615219 10p15.3 10 48868G> A null A V 9 9 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed rs1254452632 10p15.3 10 48862G> A null T I 11 11 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed rs1254452632 10p15.3 10 48862G> C null T S 11 11 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs772690436 10p15.3 10 48859G> A null T M 12 12 missense 0.0 unknown 0.41 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs367863774 10p15.3 10 48856C> G null G A 13 13 missense 0.0 unknown 0.31 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs367863774 10p15.3 10 48856C> T null G E 13 13 missense 0.0 unknown 0.59 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782122091 10p15.3 10 48854T> C null T A 14 14 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738894 10p15.3 10 48853G> C null T R 14 14 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782742393 10p15.3 10 48841C> T null S N 18 18 missense 0.0 unknown 0.25 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782044041 10p15.3 10 48838C> T null W * 19 19 stop gained 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738888 10p15.3 10 48833C> G null A P 21 21 missense 0.0 unknown 0.18 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738888 10p15.3 10 48833C> T null A T 21 21 missense 0.0 unknown 0.21 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs781940421 10p15.3 10 48832G> A null A V 21 21 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,gnomAD rs577701532 10p15.3 10 48827T> C null T A 23 23 2.0E-4 missense 0.0 unknown 0.26 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738876 10p15.3 10 48826G> A null T M 23 23 missense 0.0 unknown 0.44 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs781975937 10p15.3 10 48823C> G null C S 24 24 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs781975937 10p15.3 10 48823C> T null C Y 24 24 missense 0.0 unknown 0.85 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed rs1368548414 10p15.3 10 48817G> A null T I 26 26 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1301386728 10p15.3 10 48815T> C null T A 27 27 missense 0.0 unknown 0.11 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782209980 10p15.3 10 48814G> A null T M 27 27 missense 0.0 unknown 0.25 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782209980 10p15.3 10 48814G> C null T R 27 27 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782626465 10p15.3 10 48811C> T null R K 28 28 missense 0.0 unknown 0.4 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738865 10p15.3 10 48808G> A null P L 29 29 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ESP,ExAC,gnomAD rs375210323 10p15.3 10 48809G> A null P S 29 29 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1277304584 10p15.3 10 48806C> T null A T 30 30 missense 0.0 unknown 0.65 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738859 10p15.3 10 48805G> A null A V 30 30 missense 0.0 unknown 0.54 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781796292 10p15.3 10 48725C> G null V L 31 31 missense 0.0 unknown 0.24 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1320330977 10p15.3 10 48722C> A null A S 32 32 missense 0.0 unknown 0.56 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1320330977 10p15.3 10 48722C> T null A T 32 32 missense 0.0 unknown 0.61 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,gnomAD rs551675758 10p15.3 10 48721G> A null A V 32 32 2.0E-4 missense 0.0 unknown 0.24 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738828 10p15.3 10 48718C> T null G D 33 33 missense 0.0 unknown 0.71 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782042666 10p15.3 10 48719C> T null G S 33 33 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138641173 10p15.3 10 48715G> A null T M 34 34 0.001597 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138641173 10p15.3 10 48715G> C null T R 34 34 0.001597 missense 0.0 unknown 0.21 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs377568434 10p15.3 10 48712C> T null C Y 35 35 missense 0.0 unknown 0.69 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738823 10p15.3 10 48709G> A null P L 36 36 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738821 10p15.3 10 48706G> A null A V 37 37 missense 0.0 unknown 0.1 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738820 10p15.3 10 48703A> G null L P 38 38 missense 0.0 unknown 0.22 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1231828727 10p15.3 10 48697G> A null S L 40 40 missense 0.0 unknown 0.31 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1291110595 10p15.3 10 48694C> T null W * 41 41 stop gained 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782197532 10p15.3 10 48692T> C null I V 42 42 missense 0.0 unknown 0.53 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782017474 10p15.3 10 48688C> T null W * 43 43 stop gained 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782422520 10p15.3 10 48685C> T null S N 44 44 missense 0.0 unknown 0.22 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782473605 10p15.3 10 48682C> G null R P 45 45 missense 0.0 unknown 0.18 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782473605 10p15.3 10 48682C> T null R Q 45 45 missense 0.0 unknown 0.44 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782247878 10p15.3 10 48683G> A null R W 45 45 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738813 10p15.3 10 48680C> T null A T 46 46 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782220522 10p15.3 10 48679G> A null A V 46 46 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782574116 10p15.3 10 48676G> T null P Q 47 47 missense 0.0 unknown 0.18 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738810 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48672C> T null W * 48 48 missense 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781896851 10p15.3 10 48670G> A null T I 49 49 missense 0.0 unknown 0.34 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782458615 10p15.3 10 48671T> G null T P 49 49 missense 0.0 unknown 0.05 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs150100936 10p15.3 10 48667A> G null L P 50 50 missense 0.0 unknown 0.23 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,NCI-TCGA,TOPMed,gnomAD rs781874733 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48662C> T null A T 52 52 missense 0.0 unknown 0.05 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140792516 10p15.3 10 48659G> C null R G 53 53 0.001797 missense 0.0 unknown 0.21 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140792516 10p15.3 10 48659G> A null R W 53 53 0.001797 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs781931730 10p15.3 10 48655C> G null G A 54 54 missense 0.0 unknown 0.33 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs781931730 10p15.3 10 48655C> T null G D 54 54 missense 0.0 unknown 0.37 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782166375 10p15.3 10 48652G> A null P L 55 55 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738799 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48653G> A null P S 55 55 missense 0.0 unknown 0.45 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782384848 10p15.3 10 48649G> A null S L 56 56 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782384848 10p15.3 10 48649G> C null S W 56 56 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782209304 10p15.3 10 48646C> T null G D 57 57 missense 0.0 unknown 0.16 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781965051 10p15.3 10 48643C> T null R K 58 58 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782198535 10p15.3 10 48640G> C null S C 59 59 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782198535 10p15.3 10 48640G> A null S F 59 59 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782662677 10p15.3 10 48631T> C null Q R 62 62 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs137861850 10p15.3 10 48628G> A null T I 63 63 5.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145350711 10p15.3 10 48622G> A null S L 65 65 3.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs201828096 10p15.3 10 48619G> A null S F 66 66 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs201828096 10p15.3 10 48619G> T null S Y 66 66 missense 0.0 unknown 0.1 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782710819 10p15.3 10 48616G> T null S * 67 67 missense 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782710819 10p15.3 10 48616G> A null S L 67 67 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781838913 10p15.3 10 48617A> G null S P 67 67 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ESP,gnomAD rs373396912 10p15.3 10 48610C> T null S N 69 69 missense 0.0 unknown 0.31 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs781901550 10p15.3 10 48608A> T null C S 70 70 missense 0.0 unknown 0.45 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed rs1348012331 10p15.3 10 48607C> T null C Y 70 70 missense 0.0 unknown 0.85 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10904047 10p15.3 10 48605C> G null G R 71 71 0.3285 missense 0.0 unknown 0.25 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10904047 10p15.3 10 48605C> T null G R 71 71 0.3285 missense 0.0 unknown 0.25 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1486595006 10p15.3 10 48602G> A null R * 72 72 stop gained 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11251906 10p15.3 10 48601C> A null R L 72 72 0.1476 missense 0.0 unknown 0.23 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs189409193 10p15.3 10 48598C> T null G E 73 73 0.001797 missense 0.0 unknown 0.97 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782164901 10p15.3 10 48595A> G null L P 74 74 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs781992462 10p15.3 10 48592C> T null G E 75 75 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1184254610 10p15.3 10 48593C> T null G R 75 75 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1184254610 10p15.3 10 48593C> G null G R 75 75 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782391027 10p15.3 10 48588G> T null C * 76 76 stop gained 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed rs1433424184 10p15.3 10 48586C> G null G A 77 77 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs369280325 10p15.3 10 48587C> T null G S 77 77 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC rs782270177 10p15.3 10 48583G> A null S F 78 78 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782313650 10p15.3 10 48584A> T null S T 78 78 missense 0.0 unknown 0.71 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1371559599 10p15.3 10 48579T> A null L F 79 79 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1371559599 10p15.3 10 48579T> G null L F 79 79 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,TOPMed,gnomAD rs572331987 10p15.3 10 48578C> T null A T 80 80 2.0E-4 missense 0.0 unknown 0.56 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738772 10p15.3 10 48577G> A null A V 80 80 missense 0.0 unknown 0.6 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs374863076 10p15.3 10 48568G> A null A V 83 83 missense 0.0 unknown 0.22 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1349359638 10p15.3 10 48566G> A null Q * 84 84 stop gained 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1349359638 10p15.3 10 48566G> C null Q E 84 84 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ESP,ExAC,gnomAD rs372452939 10p15.3 10 48565T> C null Q R 84 84 missense 0.0 unknown 0.11 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738769 10p15.3 10 48563T> C null N D 85 85 missense 0.0 unknown 0.7 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain TOPMed rs1232008670 10p15.3 10 48560G> A null P S 86 86 missense 0.0 unknown 0.27 tolerated - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781786604 10p15.3 10 48554C> A null V L 88 88 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738765 10p15.3 10 48551A> G null C R 89 89 missense 0.0 unknown 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738763 10p15.3 10 48550C> G null C S 89 89 missense 0.0 unknown 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738760 10p15.3 10 48549G> C null C W 89 89 missense 0.0 unknown 0 A0A075B725 TUBB8 Tubulin beta-8 chain gnomAD rs1554738759 10p15.3 10 48547T> G null * S 90 90 stop lost 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs999823352 17q23.3 17 64390658G> A null P L 3 3 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs999823352 17q23.3 17 64390658G> C null P R 3 3 missense 0.041 benign 0.03 deleterious - low confidence 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1180644021 17q23.3 17 64390652C> A null W L 5 5 missense 0.98 probably damaging 0.05 deleterious - low confidence 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1378398124 17q23.3 17 64390650C> T null A T 6 6 missense 0.003 benign 1.0 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1438933960 17q23.3 17 64390643C> T null G E 8 8 missense 0.003 benign 0.79 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1041722227 17q23.3 17 64390637G> A null T M 10 10 missense 0.001 benign 0.09 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1379102565 17q23.3 17 64390635T> A null M L 11 11 missense 0.569 possibly damaging 0.06 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) Ensembl rs1008931747 17q23.3 17 64390630C> A null W C 12 12 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1464381306 17q23.3 17 64390632A> T null W R 12 12 missense 0.994 probably damaging 0.32 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1171603279 17q23.3 17 64390628A> G null L P 13 13 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1448332566 17q23.3 17 64390616A> G null L P 17 17 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1375527521 17q23.3 17 64390613G> A null T I 18 18 missense 0.0 benign 0.97 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1375527521 17q23.3 17 64390613G> T null T N 18 18 missense 0.098 benign 0.03 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1302617631 17q23.3 17 64390611G> A null L F 19 19 missense 0.991 probably damaging 0.21 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1314269351 17q23.3 17 64390607A> G null L P 20 20 missense 0.703 possibly damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs890538220 17q23.3 17 64390605G> A null L F 21 21 missense 0.573 possibly damaging 0.3 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1198492322 17q23.3 17 64390508G> T null S R 24 24 missense 0.116 benign 0.05 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1466803785 17q23.3 17 64390502C> G null E D 26 26 missense 0.28 benign 0.21 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1046291707 17q23.3 17 64378094T> C null M V 39 39 missense 0.619 possibly damaging 0.01 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1369473031 17q23.3 17 64378072G> A null T M 46 46 missense 0.937 probably damaging 0.03 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1163112331 17q23.3 17 64378063T> C null N S 49 49 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1457859854 17q23.3 17 64378054T> C null N S 52 52 missense 0.323 benign 0.23 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1381646622 17q23.3 17 64378037A> G null F L 58 58 missense 0.0 benign 1.0 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1342097112 17q23.3 17 64378034C> T null A T 59 59 missense 0.637 possibly damaging 0.02 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1412650226 17q23.3 17 64378033G> A null A V 59 59 missense 0.028 benign 1.0 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1349322529 17q23.3 17 64378010C> T null V I 67 67 missense 0.04 benign 0.32 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1205098838 17q23.3 17 64377995G> A null Q * 72 72 stop gained 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1257453903 17q23.3 17 64377990C> T null M I 73 73 missense 0.014 benign 0.26 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1186204443 17q23.3 17 64377982T> C null Y C 76 76 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1486870540 17q23.3 17 64377983A> C null Y D 76 76 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1257078966 17q23.3 17 64377971C> T null V M 80 80 missense 0.356 benign 0.14 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1473007292 17q23.3 17 64377967A> G null L P 81 81 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs925993821 17q23.3 17 64377953A> C null S A 86 86 missense 0.664 possibly damaging 0.11 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1362179460 17q23.3 17 64377952G> C null S C 86 86 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1173116225 17q23.3 17 64377910C> T null R Q 100 100 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1404215757 17q23.3 17 64377899A> T null S T 104 104 missense 0.071 benign 0.59 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1411347268 17q23.3 17 64377868T> G null N T 114 114 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) 1000Genomes,TOPMed,dbSNP rs281865545 [ClinVar]: Three Vessel Coronary Disease, [ClinVar]: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM pubmed:11791967,pubmed:1690453,pubmed:17212705,pubmed:8532023 pubmed:8532023 17q23.3 17 64377836C> G null V L 125 125 missense 0.019 benign 0.19 tolerated 1 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM ClinVar:RCV000014538 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) 1000Genomes,TOPMed,dbSNP rs281865545 [ClinVar]: Three Vessel Coronary Disease, [ClinVar]: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM pubmed:11791967,pubmed:1690453,pubmed:17212705,pubmed:8532023 pubmed:8532023 17q23.3 17 64377836C> G null V L 125 125 missense 0.019 benign 0.19 tolerated 1 Three Vessel Coronary Disease ClinVar:RCV001003440 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) 1000Genomes,TOPMed rs281865545 17q23.3 17 64377836C> T null V M 125 125 missense 0.754 possibly damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) Ensembl rs987636216 17q23.3 17 64377829A> G null V A 127 127 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1211761475 17q23.3 17 64375353A> G null V A 130 130 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1482618030 17q23.3 17 64375347C> G null S T 132 132 missense 0.112 benign 0.27 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1239254244 17q23.3 17 64375344G> A null P L 133 133 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1181824485 17q23.3 17 64375345G> A null P S 133 133 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1380068300 17q23.3 17 64375317G> A null A V 142 142 missense 0.007 benign 1.0 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1357520755 17q23.3 17 64375300C> A null V L 148 148 missense 0.996 probably damaging 0.09 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1447333227 17q23.3 17 64375293A> G null V A 150 150 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1331960275 17q23.3 17 64375279G> C null P A 155 155 missense 0.616 possibly damaging 0.01 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1378946172 17q23.3 17 64375269T> C null K R 158 158 missense 0.009 benign 0.37 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1444471208 17q23.3 17 64375264G> A null P S 160 160 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs928004779 17q23.3 17 64375261T> C null I V 161 161 missense 0.027 benign 0.14 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1368015323 17q23.3 17 64375258G> A null H Y 162 162 missense 0.003 benign 1.0 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1220621686 17q23.3 17 64375249T> C null I V 165 165 missense 0.022 benign 0.34 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs980894957 17q23.3 17 64375240G> A null L F 168 168 missense 0.01 benign 0.52 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1022444853 17q23.3 17 64375224T> C null K R 173 173 missense 0.017 benign 0.1 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1022444853 17q23.3 17 64375224T> G null K T 173 173 missense 0.409 benign 0.01 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1259417313 17q23.3 17 64375219C> T null V I 175 175 missense 0.0 benign 0.41 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1459532330 17q23.3 17 64375214C> G null K N 176 176 missense 0.898 possibly damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1177284411 17q23.3 17 64375206C> T null R K 179 179 missense 0.005 benign 0.96 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1238008065 17q23.3 17 64375205T> G null R S 179 179 missense 0.225 benign 0.05 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1478534314 17q23.3 17 64375197T> G null N T 182 182 missense 0.0 benign 1.0 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) Ensembl rs1011102664 17q23.3 17 64375191C> T null R Q 184 184 missense 0.0 benign 0.3 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1031213164 17q23.3 17 64375159C> T null V I 195 195 missense 0.003 benign 0.66 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) Ensembl rs998224476 17q23.3 17 64375147C> G null D H 199 199 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1171548029 17q23.3 17 64375144G> A null R C 200 200 missense 0.117 benign 0.02 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1402509325 17q23.3 17 64375143C> T null R H 200 200 missense 0.0 benign 1.0 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1330532669 17q23.3 17 64375141C> T null V I 201 201 missense 0.007 benign 1.0 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1438261417 17q23.3 17 64375073C> G null K N 223 223 missense 0.013 benign 0.64 tolerated 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1272727567 17q23.3 17 64375059G> A null T I 228 228 missense 0.988 probably damaging 0.02 deleterious 0 A0A075B727 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs888267329 17q23.3 17 64375053G> A null T M 230 230 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) Ensembl rs1568045715 17q23.3 17 64390555C> T null E K 4 4 missense 0.0 benign 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) Ensembl rs920725097 17q23.3 17 64390552C> T null A T 5 5 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs908155281 17q23.3 17 64390536A> G null M T 10 10 missense 0.0 benign 0.02 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) Ensembl rs940921910 17q23.3 17 64390537T> C null M V 10 10 missense 0.0 benign 0.94 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs981727614 17q23.3 17 64390533A> C null F C 11 11 missense 0.343 benign 0.01 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1269420156 17q23.3 17 64390534A> G null F L 11 11 missense 0.0 benign 1.0 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs981727614 17q23.3 17 64390533A> G null F S 11 11 missense 0.005 benign 0.01 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1198492322 17q23.3 17 64390508G> T null S R 19 19 missense 0.001 benign 0.29 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1466803785 17q23.3 17 64390502C> G null E D 21 21 missense 0.112 benign 0.16 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1046291707 17q23.3 17 64378094T> C null M V 34 34 missense 0.516 possibly damaging 0.01 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1369473031 17q23.3 17 64378072G> A null T M 41 41 missense 0.937 probably damaging 0.04 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1163112331 17q23.3 17 64378063T> C null N S 44 44 missense 0.625 possibly damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1457859854 17q23.3 17 64378054T> C null N S 47 47 missense 0.593 possibly damaging 0.27 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1381646622 17q23.3 17 64378037A> G null F L 53 53 missense 0.0 benign 0.9 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1342097112 17q23.3 17 64378034C> T null A T 54 54 missense 0.772 possibly damaging 0.02 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1412650226 17q23.3 17 64378033G> A null A V 54 54 missense 0.038 benign 1.0 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1349322529 17q23.3 17 64378010C> T null V I 62 62 missense 0.017 benign 0.27 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1205098838 17q23.3 17 64377995G> A null Q * 67 67 stop gained 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1257453903 17q23.3 17 64377990C> T null M I 68 68 missense 0.014 benign 0.23 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1186204443 17q23.3 17 64377982T> C null Y C 71 71 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1486870540 17q23.3 17 64377983A> C null Y D 71 71 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1257078966 17q23.3 17 64377971C> T null V M 75 75 missense 0.356 benign 0.12 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1473007292 17q23.3 17 64377967A> G null L P 76 76 missense 0.162 benign 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs925993821 17q23.3 17 64377953A> C null S A 81 81 missense 0.483 possibly damaging 0.07 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1362179460 17q23.3 17 64377952G> C null S C 81 81 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1173116225 17q23.3 17 64377910C> T null R Q 95 95 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1404215757 17q23.3 17 64377899A> T null S T 99 99 missense 0.233 benign 0.19 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1411347268 17q23.3 17 64377868T> G null N T 109 109 missense 0.936 probably damaging 0.01 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) 1000Genomes,TOPMed,dbSNP rs281865545 [ClinVar]: Three Vessel Coronary Disease, [ClinVar]: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM pubmed:11791967,pubmed:1690453,pubmed:17212705,pubmed:8532023 pubmed:8532023 17q23.3 17 64377836C> G null V L 120 120 missense 0.006 benign 0.24 tolerated 1 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM ClinVar:RCV000014538 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) 1000Genomes,TOPMed,dbSNP rs281865545 [ClinVar]: Three Vessel Coronary Disease, [ClinVar]: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM pubmed:11791967,pubmed:1690453,pubmed:17212705,pubmed:8532023 pubmed:8532023 17q23.3 17 64377836C> G null V L 120 120 missense 0.006 benign 0.24 tolerated 1 Three Vessel Coronary Disease ClinVar:RCV001003440 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) 1000Genomes,TOPMed rs281865545 17q23.3 17 64377836C> T null V M 120 120 missense 0.593 possibly damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) Ensembl rs987636216 17q23.3 17 64377829A> G null V A 122 122 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1211761475 17q23.3 17 64375353A> G null V A 125 125 missense 0.791 possibly damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1482618030 17q23.3 17 64375347C> G null S T 127 127 missense 0.006 benign 0.33 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1239254244 17q23.3 17 64375344G> A null P L 128 128 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1181824485 17q23.3 17 64375345G> A null P S 128 128 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1380068300 17q23.3 17 64375317G> A null A V 137 137 missense 0.003 benign 1.0 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1357520755 17q23.3 17 64375300C> A null V L 143 143 missense 0.864 possibly damaging 0.06 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1447333227 17q23.3 17 64375293A> G null V A 145 145 missense 0.298 benign 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1331960275 17q23.3 17 64375279G> C null P A 150 150 missense 0.54 possibly damaging 0.01 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1378946172 17q23.3 17 64375269T> C null K R 153 153 missense 0.015 benign 0.27 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1444471208 17q23.3 17 64375264G> A null P S 155 155 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs928004779 17q23.3 17 64375261T> C null I V 156 156 missense 0.022 benign 0.14 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1368015323 17q23.3 17 64375258G> A null H Y 157 157 missense 0.0 benign 1.0 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1220621686 17q23.3 17 64375249T> C null I V 160 160 missense 0.015 benign 0.31 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs980894957 17q23.3 17 64375240G> A null L F 163 163 missense 0.01 benign 0.53 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1022444853 17q23.3 17 64375224T> C null K R 168 168 missense 0.01 benign 0.09 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1022444853 17q23.3 17 64375224T> G null K T 168 168 missense 0.035 benign 0.01 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1259417313 17q23.3 17 64375219C> T null V I 170 170 missense 0.0 benign 0.39 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1459532330 17q23.3 17 64375214C> G null K N 171 171 missense 0.582 possibly damaging 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1177284411 17q23.3 17 64375206C> T null R K 174 174 missense 0.005 benign 0.53 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1238008065 17q23.3 17 64375205T> G null R S 174 174 missense 0.225 benign 0.0 deleterious 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1478534314 17q23.3 17 64375197T> G null N T 177 177 missense 0.0 benign 1.0 tolerated 0 A0A075B728 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) Ensembl rs1011102664 17q23.3 17 64375191C> T null R Q 179 179 missense 0.001 benign 0.46 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1371904625 8q24.3 8 144291360G> A null S L 4 4 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) gnomAD rs1554840205 8q24.3 8 144291357C> T null R Q 5 5 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1299259118 8q24.3 8 144291355C> A null G C 6 6 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) gnomAD rs1554840201 8q24.3 8 144291354C> T null G D 6 6 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed,gnomAD rs1390090858 8q24.3 8 144291351G> C null A G 7 7 missense 0.0 unknown 0.47 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed,gnomAD rs1390090858 8q24.3 8 144291351G> A null A V 7 7 missense 0.0 unknown 0.23 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1372062609 8q24.3 8 144291348C> G null G A 8 8 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1372062609 8q24.3 8 144291348C> A null G V 8 8 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed,gnomAD rs1301473959 8q24.3 8 144291342G> T null T K 10 10 missense 0.0 unknown 0.1 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed,gnomAD rs1301473959 8q24.3 8 144291342G> A null T M 10 10 missense 0.0 unknown 0.63 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed,gnomAD rs1228160416 8q24.3 8 144291337C> T null A T 12 12 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) Ensembl rs1564606470 8q24.3 8 144291336G> A null A V 12 12 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed,gnomAD rs1250757615 8q24.3 8 144291333G> A null P L 13 13 missense 0.0 unknown 0.92 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) ExAC,gnomAD rs782340581 8q24.3 8 144291327A> C null V G 15 15 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) gnomAD rs1554840187 8q24.3 8 144291325G> A null R W 16 16 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) ExAC,TOPMed,gnomAD rs782228963 8q24.3 8 144291313G> A null R W 20 20 missense 0.0 unknown 0.02 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1253365015 8q24.3 8 144291309C> G null R P 21 21 missense 0.0 unknown 0.02 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1467838000 8q24.3 8 144291307A> G null S P 22 22 missense 0.0 unknown 0.14 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) gnomAD rs1554840182 8q24.3 8 144291306G> T null S Y 22 22 missense 0.0 unknown 0.02 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) gnomAD rs1554840181 8q24.3 8 144291303T> C null E G 23 23 missense 0.0 unknown 0.34 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) gnomAD rs1554840180 8q24.3 8 144291301G> T null P T 24 24 missense 0.0 unknown 0.34 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed,gnomAD rs1191390150 8q24.3 8 144291296T> G null E D 25 25 missense 0.0 unknown 0.6 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1391576146 8q24.3 8 144291292C> T null E K 27 27 missense 0.0 unknown 0.51 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) ExAC,TOPMed,gnomAD rs782569588 8q24.3 8 144291289G> C null P A 28 28 missense 0.0 unknown 0.22 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) ExAC,TOPMed,gnomAD rs782537208 8q24.3 8 144291283G> C null P A 30 30 missense 0.0 unknown 0.69 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) ExAC,gnomAD rs782295654 8q24.3 8 144291276G> A null P L 32 32 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1427930197 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144276295G> A null P S 37 37 missense 0.0 benign 0.53 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1480426000 8q24.3 8 144276291C> G null C S 38 38 missense 0.0 benign 0.62 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs908179759 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144276288G> A null P L 39 39 missense 0.0 benign 0.08 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) Ensembl rs1027174016 8q24.3 8 144276277T> C null M V 43 43 missense 0.0 benign 0.7 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1297908597 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144276273G> A null A V 44 44 missense 0.003 benign 0.16 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs760786450 8q24.3 8 144276268C> T null A T 46 46 missense 0.003 benign 0.55 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1344926317 8q24.3 8 144276264C> T null R Q 47 47 missense 0.0 benign 0.79 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed,gnomAD rs964528739 8q24.3 8 144276261A> G null I T 48 48 missense 0.0 benign 0.58 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed,gnomAD rs1019799117 8q24.3 8 144276246G> C null A G 53 53 missense 0.134 benign 0.34 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed,gnomAD rs1019799117 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144276246G> A null A V 53 53 missense 0.003 benign 0.28 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) gnomAD rs1554838288 8q24.3 8 144276227C> A null E D 59 59 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1220835216 8q24.3 8 144265064C> T null R Q 63 63 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs984541957 8q24.3 8 144265065G> A null R W 63 63 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1347167920 8q24.3 8 144265058G> A null T M 65 65 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1229215090 8q24.3 8 144265055A> G null V A 66 66 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1436260140 8q24.3 8 144265047C> T null V M 69 69 missense 0.797 possibly damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1204148511 8q24.3 8 144265043G> A null P L 70 70 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1192230617 8q24.3 8 144265027A> T null D E 75 75 missense 0.03 benign 0.22 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1489687049 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144265029C> T null D N 75 75 missense 0.089 benign 0.21 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) Ensembl rs966289610 8q24.3 8 144265026C> T null D N 76 76 missense 0.151 benign 0.03 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1019630688 8q24.3 8 144265017G> T null H N 79 79 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1421087868 8q24.3 8 144265014C> T null V M 80 80 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1169347452 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 8q24.3 8 144265005C> T null D N 83 83 missense 0.454 possibly damaging 0.1 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1010197764 8q24.3 8 144264996C> T null G S 86 86 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs891797581 8q24.3 8 144264990G> A null R C 88 88 missense 0.082 benign 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1435772457 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144264989C> T null R H 88 88 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1337554918 8q24.3 8 144264986A> C null I S 89 89 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) Ensembl rs1054538479 8q24.3 8 144264983T> C null Y C 90 90 missense 0.91 probably damaging 0.06 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1000321051 8q24.3 8 144264977G> A null P L 92 92 missense 0.737 possibly damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1044892645 8q24.3 8 144264971C> T null R Q 94 94 missense 0.183 benign 0.17 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs903675515 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144264972G> A null R W 94 94 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) Ensembl rs947887943 8q24.3 8 144264968G> A null T I 95 95 missense 0.577 possibly damaging 0.06 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs917803803 8q24.3 8 144264966G> C null R G 96 96 missense 0.003 benign 0.26 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1191082218 8q24.3 8 144264965C> T null R Q 96 96 missense 0.015 benign 0.12 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs917803803 8q24.3 8 144264966G> A null R W 96 96 missense 0.849 possibly damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1474143837 8q24.3 8 144264953T> A null D V 100 100 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1162488417 8q24.3 8 144264949C> G null Q H 101 101 missense 0.02 benign 0.05 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1414051722 8q24.3 8 144264950T> C null Q R 101 101 missense 0.012 benign 0.17 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1393518170 8q24.3 8 144264936T> A null M L 106 106 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1320240407 8q24.3 8 144264927G> C null P A 109 109 missense 0.654 possibly damaging 0.02 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1430117383 8q24.3 8 144264919G> C null Y * 111 111 stop gained 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1324689466 8q24.3 8 144264921A> T null Y N 111 111 missense 0.363 benign 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1256381303 8q24.3 8 144264830G> A null R C 113 113 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs966612161 8q24.3 8 144264829C> T null R H 113 113 missense 0.88 possibly damaging 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1256381303 8q24.3 8 144264830G> T null R S 113 113 missense 0.939 probably damaging 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1361900160 8q24.3 8 144264824C> T null V M 115 115 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs956063214 8q24.3 8 144264814G> A null P L 118 118 missense 0.105 benign 0.08 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1432958556 8q24.3 8 144264808G> A null T I 120 120 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1312415060 8q24.3 8 144264805C> A null G V 121 121 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1000211146 8q24.3 8 144264802C> T null R Q 122 122 missense 0.007 benign 1.0 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1033039655 8q24.3 8 144264803G> A null R W 122 122 missense 0.849 possibly damaging 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs905925027 8q24.3 8 144264796A> G null L P 124 124 missense 0.722 possibly damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1234550116 8q24.3 8 144264787G> A null T M 127 127 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1349340690 8q24.3 8 144264785C> A null D Y 128 128 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1342409155 8q24.3 8 144264767C> T null V M 134 134 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs896346282 8q24.3 8 144264764G> A null R W 135 135 missense 0.849 possibly damaging 0.02 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs940630322 8q24.3 8 144264760C> T null R Q 136 136 missense 0.786 possibly damaging 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1056384755 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144264761G> A null R W 136 136 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1199415401 8q24.3 8 144264754T> C null Q R 138 138 missense 0.756 possibly damaging 0.06 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1390917331 8q24.3 8 144264733A> C null V G 145 145 missense 0.007 benign 0.4 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1173050957 8q24.3 8 144264734C> A null V L 145 145 missense 0.007 benign 0.28 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1166403186 8q24.3 8 144264725T> C null N D 148 148 missense 0.014 benign 1.0 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1328408675 8q24.3 8 144264723G> T null N K 148 148 missense 0.601 possibly damaging 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1396137305 8q24.3 8 144264724T> C null N S 148 148 missense 0.299 benign 0.05 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1023049958 8q24.3 8 144264615G> A null P L 152 152 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1424568274 8q24.3 8 144264605G> T null D E 155 155 missense 0.447 possibly damaging 0.37 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1261173428 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 8q24.3 8 144264607C> T null D N 155 155 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1035296430 8q24.3 8 144264598T> G null S R 158 158 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1160447382 8q24.3 8 144264595C> T null G R 159 159 missense 0.037 benign 0.67 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1452309924 8q24.3 8 144264592C> T null D N 160 160 missense 0.405 benign 0.02 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1383645232 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144264589C> T null V I 161 161 missense 0.036 benign 0.11 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs886332425 8q24.3 8 144264585A> G null M T 162 162 missense 0.9 possibly damaging 0.21 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1294750540 8q24.3 8 144264576G> A null P L 165 165 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1048967179 8q24.3 8 144264565G> A null R C 169 169 missense 0.978 probably damaging 0.06 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1307525655 8q24.3 8 144264564C> T null R H 169 169 missense 0.234 benign 0.29 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs994427127 8q24.3 8 144264561G> A null P L 170 170 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs994427127 8q24.3 8 144264561G> C null P R 170 170 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1213221407 8q24.3 8 144264556C> T null D N 172 172 missense 0.422 benign 0.11 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1038755860 8q24.3 8 144264550G> A null R C 174 174 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1485506535 8q24.3 8 144264549C> T null R H 174 174 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1178112378 8q24.3 8 144264547T> C null S G 175 175 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1362644427 8q24.3 8 144264529C> T null V M 181 181 missense 0.738 possibly damaging 0.18 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1434812877 8q24.3 8 144264522T> G null K T 183 183 missense 0.926 probably damaging 0.02 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) Ensembl rs911658328 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144264520C> T null E K 184 184 missense 0.017 benign 0.65 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1053673659 8q24.3 8 144264517T> C null K E 185 185 missense 0.925 probably damaging 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1027519016 8q24.3 8 144264431G> A null R C 188 188 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) Ensembl rs994751078 8q24.3 8 144264430C> T null R H 188 188 missense 0.298 benign 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1370378589 8q24.3 8 144264428T> C null M V 189 189 missense 0.156 benign 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1039138279 8q24.3 8 144264419C> T null A T 192 192 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1008582267 8q24.3 8 144264408C> T null M I 195 195 missense 0.771 possibly damaging 0.03 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1274237484 8q24.3 8 144264406C> T null G D 196 196 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1192329301 8q24.3 8 144264402C> T null W * 197 197 stop gained 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1192329301 8q24.3 8 144264402C> A null W C 197 197 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1250527515 8q24.3 8 144264395G> C null P A 200 200 missense 0.771 possibly damaging 0.02 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs890162857 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144264391C> T null R H 201 201 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1052882313 8q24.3 8 144264389G> C null R G 202 202 missense 0.023 benign 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs934809851 8q24.3 8 144264388C> T null R Q 202 202 missense 0.066 benign 0.07 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1052882313 8q24.3 8 144264389G> A null R W 202 202 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs926150063 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144264382C> T null R Q 204 204 missense 0.015 benign 0.09 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1394973361 8q24.3 8 144264379T> A null D V 205 205 missense 0.392 benign 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1323810547 8q24.3 8 144264370G> A null P L 208 208 missense 0.898 possibly damaging 0.01 deleterious 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1043313580 8q24.3 8 144264350C> T null A T 215 215 missense 0.261 benign 0.11 tolerated 0 A0A075B729 BOP1 Ribosome biogenesis protein BOP1 (Fragment) TOPMed rs1214252340 8q24.3 8 144264347G> C null Q E 216 216 missense 0.017 benign 0.36 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs569649339 8q24.3 8 143873175C> T null A T 2 2 3.99E-4 missense 0.024 benign 0.1 tolerated - low confidence 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1463728158 8q24.3 8 143873169T> C null T A 4 4 missense 0.0 benign 0.9 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs781912098 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143873168G> A null T M 4 4 missense 0.003 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs547847371 8q24.3 8 143873166G> T null L M 5 5 2.0E-4 missense 0.024 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs547847371 8q24.3 8 143873166G> C null L V 5 5 2.0E-4 missense 0.006 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782356070 8q24.3 8 143873163C> A null G * 6 6 stop gained 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201347911 8q24.3 8 143873157C> T null G S 8 8 9.98E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782642241 8q24.3 8 143873153G> T null T K 9 9 missense 0.198 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782642241 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143873153G> A null T M 9 9 missense 0.402 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782248266 8q24.3 8 143873154T> G null T P 9 9 missense 0.26 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782642241 8q24.3 8 143873153G> C null T R 9 9 missense 0.438 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77375433 8q24.3 8 143873151G> A null P S 10 10 2.0E-4 missense 0.0 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782458495 8q24.3 8 143873147G> A null P L 11 11 missense 0.0 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782458495 8q24.3 8 143873147G> C null P R 11 11 missense 0.075 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782583628 8q24.3 8 143873148G> A null P S 11 11 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1265215850 8q24.3 8 143873141G> A null P L 13 13 missense 0.605 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661868 8q24.3 8 143873135G> C null A G 15 15 missense 0.199 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs547650598 8q24.3 8 143873136C> G null A P 15 15 2.0E-4 missense 0.012 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs547650598 8q24.3 8 143873136C> T null A T 15 15 2.0E-4 missense 0.199 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs532342176 8q24.3 8 143873129C> T null S N 17 17 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs565023001 8q24.3 8 143873127T> C null I V 18 18 2.0E-4 missense 0.319 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782093677 8q24.3 8 143873124C> T null A T 19 19 missense 0.534 possibly damaging 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661862 8q24.3 8 143873123G> A null A V 19 19 missense 0.906 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661859 8q24.3 8 143873115A> C null Y D 22 22 missense 0.387 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661849 8q24.3 8 143873105G> C null A G 25 25 missense 0.035 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1291229287 8q24.3 8 143873106C> G null A P 25 25 missense 0.944 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376125531 8q24.3 8 143873102G> A null S L 26 26 missense 0.84 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782036092 8q24.3 8 143873099C> G null G A 27 27 missense 0.018 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661847 8q24.3 8 143873096T> G null Q P 28 28 missense 0.563 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782394054 8q24.3 8 143873094C> T null A T 29 29 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1294173426 8q24.3 8 143873090T> A null Q L 30 30 missense 0.0 benign 0.51 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1000620600 8q24.3 8 143873085C> T null V I 32 32 missense 0.0 benign 0.85 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782310345 8q24.3 8 143873081T> C null Y C 33 33 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661838 8q24.3 8 143873082A> G null Y H 33 33 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782662687 8q24.3 8 143873079C> T null A T 34 34 missense 0.0 benign 0.51 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs947776682 8q24.3 8 143873078G> A null A V 34 34 missense 0.001 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs531814619 8q24.3 8 143873076C> T null A T 35 35 2.0E-4 missense 0.322 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661835 8q24.3 8 143873070C> G null E Q 37 37 missense 0.003 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201041885 8q24.3 8 143873067G> A null Q * 38 38 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661831 8q24.3 8 143873066T> C null Q R 38 38 missense 0.025 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661830 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143873063C> T null G D 39 39 missense 0.774 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1162166117 8q24.3 8 143873061G> A null L F 40 40 missense 0.903 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200139141 8q24.3 8 143873060A> T null L H 40 40 7.99E-4 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1162166117 8q24.3 8 143873061G> C null L V 40 40 missense 0.915 probably damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs542642601 8q24.3 8 143873055G> C null P A 42 42 2.0E-4 missense 0.124 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375644318 8q24.3 8 143873049C> T null G R 44 44 3.99E-4 missense 0.018 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661820 8q24.3 8 143873045A> G null L P 45 45 missense 0.003 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781823114 8q24.3 8 143873042C> G null G A 46 46 missense 0.998 probably damaging 0.89 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs193226526 8q24.3 8 143873043C> T null G R 46 46 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs952209369 8q24.3 8 143873037C> A null A S 48 48 missense 0.116 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661813 8q24.3 8 143873036G> A null A V 48 48 missense 0.081 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782047225 8q24.3 8 143873025C> A null A S 52 52 missense 0.984 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661807 8q24.3 8 143873024G> A null A V 52 52 missense 0.799 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781930374 8q24.3 8 143873022G> C null Q E 53 53 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372364215 8q24.3 8 143873016C> G null A P 55 55 2.0E-4 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1288102932 8q24.3 8 143873012G> T null T N 56 56 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1241221165 8q24.3 8 143873013T> G null T P 56 56 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1288102932 8q24.3 8 143873012G> C null T S 56 56 missense 0.799 possibly damaging 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661801 8q24.3 8 143873010C> T null G R 57 57 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1215633769 8q24.3 8 143872994A> G null L P 62 62 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782397354 8q24.3 8 143872992C> A null A S 63 63 missense 0.005 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782397354 8q24.3 8 143872992C> T null A T 63 63 missense 0.0 benign 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781972088 8q24.3 8 143872988C> T null R Q 64 64 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs782220071 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872989G> A null R W 64 64 missense 0.292 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201658335 8q24.3 8 143872985C> T null G D 65 65 0.002196 missense 0.294 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1179728664 8q24.3 8 143872986C> T null G S 65 65 missense 0.015 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1419186147 8q24.3 8 143872983G> A null Q * 66 66 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1419186147 8q24.3 8 143872983G> T null Q K 66 66 missense 0.013 benign 0.34 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1379018640 8q24.3 8 143872979A> G null L P 67 67 missense 0.026 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1379018640 8q24.3 8 143872979A> C null L R 67 67 missense 0.325 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782198268 8q24.3 8 143872977G> A null L F 68 68 missense 0.363 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661793 8q24.3 8 143872971C> T null V M 70 70 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782660888 8q24.3 8 143872965T> C null K E 72 72 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1019339351 8q24.3 8 143872963C> A null K N 72 72 missense 0.051 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201067978 8q24.3 8 143872961G> A null A V 73 73 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150047119 8q24.3 8 143872949C> A null G V 77 77 0.001597 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661778 8q24.3 8 143872943A> G null V A 79 79 missense 0.041 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781788668 8q24.3 8 143872944C> T null V M 79 79 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782711520 8q24.3 8 143872941C> T null G R 80 80 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1239320726 8q24.3 8 143872931A> T null L Q 83 83 missense 0.9 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1480723613 8q24.3 8 143872919A> G null L P 87 87 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782524018 8q24.3 8 143872920G> C null L V 87 87 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781957116 8q24.3 8 143872911C> G null A P 90 90 missense 0.996 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781957116 8q24.3 8 143872911C> T null A T 90 90 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs535860248 8q24.3 8 143872906C> A null E D 91 91 2.0E-4 missense 0.975 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782753507 8q24.3 8 143872908C> T null E K 91 91 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201777578 8q24.3 8 143872905G> A null R C 92 92 missense 0.191 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs566009223 8q24.3 8 143872904C> T null R H 92 92 3.99E-4 missense 0.973 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs566009223 8q24.3 8 143872904C> G null R P 92 92 3.99E-4 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371199802 8q24.3 8 143872902C> T null A T 93 93 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1355339236 8q24.3 8 143872896T> C null T A 95 95 missense 0.223 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377464626 8q24.3 8 143872895G> A null T M 95 95 3.99E-4 missense 0.973 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661755 8q24.3 8 143872892C> T null G D 96 96 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1376224849 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872893C> T null G S 96 96 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782325354 8q24.3 8 143872886G> A null P L 98 98 missense 0.51 possibly damaging 0.62 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371165578 8q24.3 8 143872887G> A null P S 98 98 missense 0.596 possibly damaging 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782277163 8q24.3 8 143872881G> A null P S 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782506999 8q24.3 8 143872875C> T null G S 102 102 missense 0.801 possibly damaging 0.76 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs868976247 8q24.3 8 143872874C> A null G V 102 102 missense 0.898 possibly damaging 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661745 8q24.3 8 143872871C> T null G D 103 103 missense 0.077 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782617508 8q24.3 8 143872872C> T null G S 103 103 missense 0.736 possibly damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed rs373504724 8q24.3 8 143872864C> G null K N 105 105 missense 0.531 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781796453 8q24.3 8 143872860C> A null A S 107 107 missense 0.007 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781796453 8q24.3 8 143872860C> T null A T 107 107 missense 0.23 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782720515 8q24.3 8 143872847G> T null A D 111 111 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782154218 8q24.3 8 143872845T> C null I V 112 112 missense 0.019 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs372926164 8q24.3 8 143872842C> T null G R 113 113 3.99E-4 missense 0.003 benign 0.85 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs372926164 8q24.3 8 143872842C> A null G W 113 113 3.99E-4 missense 0.747 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781966678 8q24.3 8 143872832A> G null V A 116 116 missense 0.055 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782129650 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872833C> T null V I 116 116 missense 0.003 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs966497949 8q24.3 8 143872826T> C null D G 118 118 missense 0.085 benign 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782305355 8q24.3 8 143872827C> T null D N 118 118 missense 0.007 benign 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs966497949 8q24.3 8 143872826T> A null D V 118 118 missense 0.013 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661719 8q24.3 8 143872823C> T null R K 119 119 missense 0.0 benign 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782017583 8q24.3 8 143872821C> T null A T 120 120 missense 0.007 benign 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs988849336 8q24.3 8 143872817A> T null L Q 121 121 missense 0.018 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782418445 8q24.3 8 143872812G> A null Q * 123 123 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782418445 8q24.3 8 143872812G> T null Q K 123 123 missense 0.0 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661717 8q24.3 8 143872799T> G null E A 127 127 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1554661714 8q24.3 8 143872796A> C null V G 128 128 missense 0.006 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661712 8q24.3 8 143872793T> G null Q P 129 129 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782653213 8q24.3 8 143872790A> G null L P 130 130 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661710 8q24.3 8 143872788C> T null A T 131 131 missense 0.708 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661709 8q24.3 8 143872787G> A null A V 131 131 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1325544292 8q24.3 8 143872782C> G null G R 133 133 missense 0.28 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782330471 8q24.3 8 143872779C> T null G S 134 134 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782234671 8q24.3 8 143872773C> A null V L 136 136 missense 0.11 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782234671 8q24.3 8 143872773C> T null V M 136 136 missense 0.682 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs11984465 8q24.3 8 143872769T> G null D A 137 137 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs11984465 8q24.3 8 143872769T> C null D G 137 137 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200950566 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872764C> T null A T 139 139 0.001398 missense 0.007 benign 0.53 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661697 8q24.3 8 143872763G> A null A V 139 139 missense 0.003 benign 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1275933353 8q24.3 8 143872761G> A null Q * 140 140 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs532844401 8q24.3 8 143872757C> G null G A 141 141 missense 0.225 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs532844401 8q24.3 8 143872757C> T null G E 141 141 missense 0.031 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs532844401 8q24.3 8 143872757C> A null G V 141 141 missense 0.748 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1316852293 8q24.3 8 143872754A> T null V E 142 142 missense 0.082 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1316852293 8q24.3 8 143872754A> C null V G 142 142 missense 0.001 benign 0.41 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs549405369 8q24.3 8 143872755C> T null V M 142 142 2.0E-4 missense 0.024 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661692 8q24.3 8 143872751A> G null L P 143 143 missense 0.0 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs560074968 8q24.3 8 143872749C> G null V L 144 144 0.001398 missense 0.783 possibly damaging 0.7 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs560074968 8q24.3 8 143872749C> A null V L 144 144 0.001398 missense 0.783 possibly damaging 0.7 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs560074968 8q24.3 8 143872749C> T null V M 144 144 0.001398 missense 0.975 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1221444265 8q24.3 8 143872746C> T null A T 145 145 missense 0.178 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782161287 8q24.3 8 143872745G> A null A V 145 145 missense 0.368 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs374410242 8q24.3 8 143872742G> A null P L 146 146 missense 0.011 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1489494178 8q24.3 8 143872740C> T null E K 147 147 missense 0.067 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781983728 8q24.3 8 143872736G> A null P L 148 148 missense 0.0 benign 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782770983 8q24.3 8 143872726G> T null H Q 151 151 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782770983 8q24.3 8 143872726G> C null H Q 151 151 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1475622013 8q24.3 8 143872723C> G null Q H 152 152 missense 0.821 possibly damaging 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1165144001 8q24.3 8 143872722C> T null G S 153 153 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661682 8q24.3 8 143872719G> A null L F 154 154 missense 0.095 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1023858826 8q24.3 8 143872715A> G null L P 155 155 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781975171 8q24.3 8 143872710G> C null R G 157 157 missense 0.062 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs78784610 8q24.3 8 143872709C> G null R P 157 157 missense 0.211 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs78784610 8q24.3 8 143872709C> T null R Q 157 157 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781975171 8q24.3 8 143872710G> A null R W 157 157 missense 0.431 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563888819 8q24.3 8 143872705C> G null E D 158 158 missense 0.023 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1361032142 8q24.3 8 143872703G> A null T I 159 159 missense 0.246 benign 0.34 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs868906446 8q24.3 8 143872700C> T null W * 160 160 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782023063 8q24.3 8 143872698G> A null H Y 161 161 missense 0.071 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs868987371 8q24.3 8 143872695T> G null K Q 162 162 missense 0.071 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782423380 8q24.3 8 143872689A> G null S P 164 164 missense 0.003 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661671 8q24.3 8 143872683G> T null L I 166 166 missense 0.06 benign 0.48 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782249530 8q24.3 8 143872676G> A null P L 168 168 missense 0.876 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661670 8q24.3 8 143872677G> A null P S 168 168 missense 0.2 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782652852 8q24.3 8 143872670G> A null T I 170 170 missense 0.04 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661669 8q24.3 8 143872665C> T null D N 172 172 missense 0.009 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs187605642 8q24.3 8 143872659G> A null R C 174 174 3.99E-4 missense 0.276 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782177282 8q24.3 8 143872658C> T null R H 174 174 missense 0.202 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs13260439 8q24.3 8 143872650C> T null D N 177 177 0.2963 missense 0.741 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs900683009 8q24.3 8 143872644T> C null N D 179 179 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782756722 8q24.3 8 143872643T> C null N S 179 179 missense 0.82 possibly damaging 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs372690268 8q24.3 8 143872640G> A null T M 180 180 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661658 8q24.3 8 143872641T> A null T S 180 180 missense 0.82 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661655 8q24.3 8 143872637A> G null L P 181 181 missense 0.466 possibly damaging 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201404508 8q24.3 8 143872631C> T null R Q 183 183 0.002596 missense 0.0 benign 0.71 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs544383532 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872632G> A null R W 183 183 2.0E-4 missense 0.001 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782792698 8q24.3 8 143872623A> G null Y H 186 186 missense 0.728 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661647 8q24.3 8 143872619T> A null H L 187 187 missense 0.0 benign 0.67 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661647 8q24.3 8 143872619T> C null H R 187 187 missense 0.0 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782165365 8q24.3 8 143872617G> A null Q * 188 188 stop gained 0 A0A075B730 EPPK1 Epiplakin Ensembl rs988880343 8q24.3 8 143872616T> C null Q R 188 188 missense 0.06 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1472520142 8q24.3 8 143872613A> G null L P 189 189 missense 0.456 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661645 8q24.3 8 143872610A> G null L P 190 190 missense 0.735 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661644 8q24.3 8 143872605T> C null R G 192 192 missense 0.883 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781987061 8q24.3 8 143872604C> T null R K 192 192 missense 0.104 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661640 8q24.3 8 143872601C> T null C Y 193 193 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782393099 8q24.3 8 143872598A> C null V G 194 194 missense 0.764 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs934671022 8q24.3 8 143872596G> A null R C 195 195 missense 0.533 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200639583 8q24.3 8 143872595C> T null R H 195 195 2.0E-4 missense 0.293 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200639583 8q24.3 8 143872595C> G null R P 195 195 2.0E-4 missense 0.003 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781967295 8q24.3 8 143872592G> A null A V 196 196 missense 0.178 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782325586 8q24.3 8 143872589G> T null P H 197 197 missense 0.804 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368200326 8q24.3 8 143872586C> T null G D 198 198 missense 0.007 benign 0.68 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1335815624 8q24.3 8 143872587C> G null G R 198 198 missense 0.013 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1335815624 8q24.3 8 143872587C> T null G S 198 198 missense 0.005 benign 0.93 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374953787 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872583G> A null S L 199 199 2.0E-4 missense 0.003 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374953787 8q24.3 8 143872583G> C null S W 199 199 2.0E-4 missense 0.767 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661628 8q24.3 8 143872580C> T null G E 200 200 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782594371 8q24.3 8 143872581C> T null G R 200 200 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782594371 8q24.3 8 143872581C> G null G R 200 200 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661627 8q24.3 8 143872578G> C null L V 201 201 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661626 8q24.3 8 143872574G> T null A D 202 202 missense 0.387 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781801198 8q24.3 8 143872570C> A null L F 203 203 missense 0.96 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661621 8q24.3 8 143872569G> C null L V 204 204 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1276783841 8q24.3 8 143872566G> C null P A 205 205 missense 0.747 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs979384132 8q24.3 8 143872565G> A null P L 205 205 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1276783841 8q24.3 8 143872566G> A null P S 205 205 missense 0.308 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1276783841 8q24.3 8 143872566G> T null P T 205 205 missense 0.88 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782550672 8q24.3 8 143872563G> A null L F 206 206 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782550672 8q24.3 8 143872563G> C null L V 206 206 missense 0.49 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781908503 8q24.3 8 143872559T> C null K R 207 207 missense 0.011 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661610 8q24.3 8 143872553G> A null T I 209 209 missense 0.045 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782779488 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872548G> A null R C 211 211 missense 0.001 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782131791 8q24.3 8 143872547C> T null R H 211 211 missense 0.0 benign 0.63 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782131791 8q24.3 8 143872547C> G null R P 211 211 missense 0.001 benign 0.48 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781823786 8q24.3 8 143872542T> C null M V 213 213 missense 0.0 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1413553275 8q24.3 8 143872535C> T null G E 215 215 missense 0.082 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs553766435 8q24.3 8 143872536C> T null G R 215 215 2.0E-4 missense 0.067 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs553766435 8q24.3 8 143872536C> A null G W 215 215 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782417012 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872532G> A null A V 216 216 missense 0.205 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661605 8q24.3 8 143872530C> A null V L 217 217 missense 0.467 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661604 8q24.3 8 143872524C> T null A T 219 219 missense 0.037 benign 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782216580 8q24.3 8 143872503C> T null G S 226 226 missense 0.866 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661597 8q24.3 8 143872498G> C null I M 227 227 missense 0.715 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1260120574 8q24.3 8 143872491C> T null E K 230 230 missense 0.0 benign 0.72 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782289184 8q24.3 8 143872488G> A null Q * 231 231 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661591 8q24.3 8 143872487T> A null Q L 231 231 missense 0.012 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661591 8q24.3 8 143872487T> C null Q R 231 231 missense 0.006 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782686550 8q24.3 8 143872484G> T null A D 232 232 missense 0.003 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,gnomAD rs538965864 8q24.3 8 143872485C> T null A T 232 232 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1200822056 8q24.3 8 143872482C> T null V M 233 233 missense 0.025 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661584 8q24.3 8 143872476C> T null G S 235 235 missense 0.053 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1375710889 8q24.3 8 143872475C> A null G V 235 235 missense 0.563 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs571553066 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872469C> T null R Q 237 237 3.99E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373813839 8q24.3 8 143872470G> A null R W 237 237 missense 0.502 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661579 8q24.3 8 143872463C> T null G D 239 239 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661580 8q24.3 8 143872464C> T null G S 239 239 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661576 8q24.3 8 143872454G> A null A V 242 242 missense 0.006 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782794430 8q24.3 8 143872452C> T null A T 243 243 missense 0.0 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370393836 8q24.3 8 143872449C> A null V L 244 244 2.0E-4 missense 0.0 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370393836 8q24.3 8 143872449C> T null V M 244 244 2.0E-4 missense 0.054 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661566 8q24.3 8 143872442A> G null V A 246 246 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782075844 8q24.3 8 143872443C> T null V M 246 246 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781963024 8q24.3 8 143872439C> T null S N 247 247 missense 0.153 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147805507 8q24.3 8 143872434G> A null R C 249 249 0.002995 missense 0.648 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147805507 8q24.3 8 143872434G> C null R G 249 249 0.002995 missense 0.181 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201440780 8q24.3 8 143872433C> T null R H 249 249 missense 0.481 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201440780 8q24.3 8 143872433C> A null R L 249 249 missense 0.103 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201440780 8q24.3 8 143872433C> G null R P 249 249 missense 0.005 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782253716 8q24.3 8 143872430G> T null A D 250 250 missense 0.121 benign 0.88 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782225879 8q24.3 8 143872428C> A null E * 251 251 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782225879 8q24.3 8 143872428C> T null E K 251 251 missense 0.031 benign 0.43 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs781906539 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872421C> T null R Q 253 253 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377622455 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872422G> A null R W 253 253 missense 0.653 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782516506 8q24.3 8 143872419G> A null R C 254 254 missense 0.0 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs927778676 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872418C> T null R H 254 254 missense 0.001 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781870277 8q24.3 8 143872410C> T null E K 257 257 missense 0.019 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370774174 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872401C> T null G S 260 260 missense 0.201 benign 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661550 8q24.3 8 143872397C> T null S N 261 261 missense 0.463 possibly damaging 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782175137 8q24.3 8 143872395C> A null V L 262 262 missense 0.015 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782175137 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872395C> T null V M 262 262 missense 0.11 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372720053 8q24.3 8 143872389C> T null G R 264 264 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661547 8q24.3 8 143872382A> G null V A 266 266 missense 0.655 possibly damaging 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661548 8q24.3 8 143872383C> G null V L 266 266 missense 0.046 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369129283 8q24.3 8 143872371C> A null E * 270 270 5.99E-4 stop gained 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369129283 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872371C> T null E K 270 270 5.99E-4 missense 0.006 benign 0.76 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782030202 8q24.3 8 143872367C> T null G D 271 271 missense 0.806 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs868992351 8q24.3 8 143872365G> A null H Y 272 272 missense 0.073 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661538 8q24.3 8 143872361T> C null K R 273 273 missense 0.139 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661535 8q24.3 8 143872355C> T null S N 275 275 missense 0.787 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1217147809 8q24.3 8 143872354G> C null S R 275 275 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1265059032 8q24.3 8 143872350A> G null F L 277 277 missense 0.121 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1487128744 8q24.3 8 143872349A> G null F S 277 277 missense 0.019 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1018296034 8q24.3 8 143872347G> A null Q * 278 278 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782378400 8q24.3 8 143872343G> A null A V 279 279 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs375885964 8q24.3 8 143872340G> T null A D 280 280 missense 0.202 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs375885964 8q24.3 8 143872340G> A null A V 280 280 missense 0.003 benign 0.51 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661529 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872337G> A null T I 281 281 missense 0.003 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782482896 8q24.3 8 143872335C> A null E * 282 282 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782482896 8q24.3 8 143872335C> T null E K 282 282 missense 0.425 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782587904 8q24.3 8 143872330G> T null H Q 283 283 missense 0.649 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661524 8q24.3 8 143872331T> C null H R 283 283 missense 0.098 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782174162 8q24.3 8 143872332G> A null H Y 283 283 missense 0.862 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661520 8q24.3 8 143872317C> A null G C 288 288 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144289918 8q24.3 8 143872316C> A null G V 288 288 3.99E-4 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661518 8q24.3 8 143872313G> A null T I 289 289 missense 0.015 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs529464644 8q24.3 8 143872311C> T null A T 290 290 2.0E-4 missense 0.186 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs199602447 8q24.3 8 143872310G> A null A V 290 290 missense 0.028 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1312081845 8q24.3 8 143872307A> C null L R 291 291 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661509 8q24.3 8 143872305G> C null P A 292 292 missense 0.003 benign 0.52 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1043141697 8q24.3 8 143872304G> A null P L 292 292 missense 0.0 benign 0.65 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661506 8q24.3 8 143872302G> A null L F 293 293 missense 0.13 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782052054 8q24.3 8 143872294C> G null E D 295 295 missense 0.232 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781935411 8q24.3 8 143872292G> C null A G 296 296 missense 0.814 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781935411 8q24.3 8 143872292G> A null A V 296 296 missense 0.933 probably damaging 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,NCI-TCGA,gnomAD rs369364428 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872286G> A null A V 298 298 missense 0.799 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782818669 8q24.3 8 143872280G> A null T I 300 300 missense 0.959 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782818669 8q24.3 8 143872280G> T null T N 300 300 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs374926161 8q24.3 8 143872277T> C null H R 301 301 missense 0.0 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781999116 8q24.3 8 143872274G> T null T N 302 302 missense 0.226 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1440888619 8q24.3 8 143872268A> T null V E 304 304 missense 0.748 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661498 8q24.3 8 143872269C> A null V L 304 304 missense 0.022 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782339630 8q24.3 8 143872263G> T null P T 306 306 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782224063 8q24.3 8 143872260T> A null I F 307 307 missense 0.053 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1181025331 8q24.3 8 143872256G> A null T I 308 308 missense 0.592 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1418890189 8q24.3 8 143872253C> G null G A 309 309 missense 0.255 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,TOPMed,gnomAD rs182651591 8q24.3 8 143872254C> T null G S 309 309 missense 0.592 possibly damaging 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs781917927 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 8q24.3 8 143872251G> A null Q * 310 310 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1361182408 8q24.3 8 143872250T> C null Q R 310 310 missense 0.0 benign 0.96 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs572077139 8q24.3 8 143872247C> T null R Q 311 311 2.0E-4 missense 0.005 benign 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371426204 8q24.3 8 143872248G> A null R W 311 311 missense 0.007 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1311412976 8q24.3 8 143872241C> T null W * 313 313 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782615464 8q24.3 8 143872240C> T null W * 313 313 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782615464 8q24.3 8 143872240C> G null W C 313 313 missense 0.517 possibly damaging 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs545014988 8q24.3 8 143872233C> A null E * 316 316 2.0E-4 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782588321 8q24.3 8 143872231C> G null E D 316 316 missense 0.038 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1301703474 8q24.3 8 143872232T> C null E G 316 316 missense 0.813 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs545014988 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143872233C> T null E K 316 316 2.0E-4 missense 0.738 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661479 8q24.3 8 143872230C> T null A T 317 317 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782539431 8q24.3 8 143872229G> A null A V 317 317 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782387494 8q24.3 8 143872223C> T null R K 319 319 missense 0.006 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782080925 8q24.3 8 143872220G> A null A V 320 320 missense 0.01 benign 0.52 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782693602 8q24.3 8 143872218C> A null G C 321 321 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1457838705 8q24.3 8 143872217C> T null G D 321 321 missense 0.862 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782064854 8q24.3 8 143872212C> T null V I 323 323 missense 0.044 benign 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661469 8q24.3 8 143872209T> G null S R 324 324 missense 0.001 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782425541 8q24.3 8 143872196T> C null H R 328 328 missense 0.018 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs868941821 8q24.3 8 143872194C> T null E K 329 329 missense 0.003 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661465 8q24.3 8 143872182C> T null V M 333 333 missense 0.075 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782344284 8q24.3 8 143872176C> T null E K 335 335 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782344284 8q24.3 8 143872176C> G null E Q 335 335 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782571256 8q24.3 8 143872172T> A null Q L 336 336 missense 0.415 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782333705 8q24.3 8 143872170C> A null A S 337 337 missense 0.999 probably damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs556501835 8q24.3 8 143872167C> T null V M 338 338 3.99E-4 missense 0.375 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782518613 8q24.3 8 143872164T> C null T A 339 339 missense 0.359 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661459 8q24.3 8 143872161C> T null G R 340 340 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781820856 8q24.3 8 143872156G> T null H Q 341 341 missense 0.036 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661458 8q24.3 8 143872158G> A null H Y 341 341 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs375779709 8q24.3 8 143872153G> T null H Q 342 342 missense 0.007 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1424559360 8q24.3 8 143872155G> A null H Y 342 342 missense 0.003 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782321412 8q24.3 8 143872150G> C null D E 343 343 missense 0.957 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782321412 8q24.3 8 143872150G> T null D E 343 343 missense 0.957 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782426672 8q24.3 8 143872152C> T null D N 343 343 missense 0.712 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782784208 8q24.3 8 143872134G> C null Q E 349 349 missense 0.015 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782307454 8q24.3 8 143872125G> A null L F 352 352 missense 0.22 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782307454 8q24.3 8 143872125G> C null L V 352 352 missense 0.062 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs777011796 8q24.3 8 143872119G> A null Q * 354 354 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1221407822 8q24.3 8 143872118T> G null Q P 354 354 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661441 8q24.3 8 143872111C> T null M I 356 356 missense 0.146 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs58368323 8q24.3 8 143872103C> T null G E 359 359 0.04473 missense 0.009 benign 0.99 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782426216 8q24.3 8 143872098C> T null V M 361 361 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782261799 8q24.3 8 143872093G> T null D E 362 362 missense 0.006 benign 0.8 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661434 8q24.3 8 143872094T> C null D G 362 362 missense 0.229 benign 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1255606615 8q24.3 8 143872095C> T null D N 362 362 missense 0.026 benign 0.52 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782596761 8q24.3 8 143872090C> A null R S 363 363 missense 0.173 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661431 8q24.3 8 143872088G> A null P L 364 364 missense 0.003 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782354138 8q24.3 8 143872089G> A null P S 364 364 missense 0.013 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782354138 8q24.3 8 143872089G> T null P T 364 364 missense 0.007 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661428 8q24.3 8 143872083C> A null A S 366 366 missense 0.922 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782538262 8q24.3 8 143872079A> T null L Q 367 367 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1487728875 8q24.3 8 143872077G> C null R G 368 368 missense 0.98 probably damaging 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782641215 8q24.3 8 143872076C> A null R L 368 368 missense 0.964 probably damaging 0.34 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782641215 8q24.3 8 143872076C> T null R Q 368 368 missense 0.969 probably damaging 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1487728875 8q24.3 8 143872077G> A null R W 368 368 missense 0.988 probably damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781833706 8q24.3 8 143872074G> A null L F 369 369 missense 0.683 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781833706 8q24.3 8 143872074G> T null L I 369 369 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782434817 8q24.3 8 143872069C> G null L F 370 370 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782753557 8q24.3 8 143872070A> G null L S 370 370 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782790523 8q24.3 8 143872066A> C null D E 371 371 missense 0.038 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs781804883 8q24.3 8 143872068C> A null D Y 371 371 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782163178 8q24.3 8 143872065C> A null A S 372 372 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782001794 8q24.3 8 143872062G> C null Q E 373 373 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782725781 8q24.3 8 143872060C> A null Q H 373 373 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1478917697 8q24.3 8 143872055G> T null A D 375 375 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782100662 8q24.3 8 143872056C> A null A S 375 375 missense 0.817 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782100662 8q24.3 8 143872056C> T null A T 375 375 missense 0.554 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661407 8q24.3 8 143872052G> A null T I 376 376 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781919286 8q24.3 8 143872049C> T null G D 377 377 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781919286 8q24.3 8 143872049C> A null G V 377 377 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs999061712 8q24.3 8 143872047C> T null G R 378 378 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs999061712 8q24.3 8 143872047C> A null G W 378 378 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782265601 8q24.3 8 143872041C> A null V F 380 380 missense 0.684 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782265601 8q24.3 8 143872041C> T null V I 380 380 missense 0.013 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782028755 8q24.3 8 143872037C> G null C S 381 381 missense 0.055 benign 0.8 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1351502923 8q24.3 8 143872034G> A null P L 382 382 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200411270 8q24.3 8 143872029G> A null R C 384 384 2.0E-4 missense 0.736 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1340802617 8q24.3 8 143872028C> T null R H 384 384 missense 0.018 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1340802617 8q24.3 8 143872028C> A null R L 384 384 missense 0.272 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1340802617 8q24.3 8 143872028C> G null R P 384 384 missense 0.706 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1043560509 8q24.3 8 143872024C> A null R S 385 385 missense 0.023 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661400 8q24.3 8 143872023G> A null L F 386 386 missense 0.015 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs894481380 8q24.3 8 143872019C> T null R Q 387 387 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140364895 8q24.3 8 143872020G> A null R W 387 387 0.003594 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782495818 8q24.3 8 143872008C> T null E K 391 391 missense 0.023 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661397 8q24.3 8 143872005C> G null A P 392 392 missense 0.693 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661397 8q24.3 8 143872005C> T null A T 392 392 missense 0.018 benign 0.5 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782546594 8q24.3 8 143872002C> A null A S 393 393 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782546594 8q24.3 8 143872002C> T null A T 393 393 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781906022 8q24.3 8 143871998A> C null L R 394 394 missense 0.885 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs150515166 8q24.3 8 143871996G> A null R C 395 395 3.99E-4 missense 0.804 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782461314 8q24.3 8 143871995C> T null R H 395 395 missense 0.011 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782461314 8q24.3 8 143871995C> A null R L 395 395 missense 0.43 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs150515166 8q24.3 8 143871996G> T null R S 395 395 3.99E-4 missense 0.355 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1241692303 8q24.3 8 143871992C> T null C Y 396 396 missense 0.023 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111565650 8q24.3 8 143871990C> A null G C 397 397 9.98E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111565650 8q24.3 8 143871990C> T null G S 397 397 9.98E-4 missense 0.931 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661384 8q24.3 8 143871987A> C null C G 398 398 missense 0.439 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs533151287 8q24.3 8 143871981C> T null D N 400 400 3.99E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661380 8q24.3 8 143871976T> A null E D 401 401 missense 0.385 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1415887042 8q24.3 8 143871978C> T null E K 401 401 missense 0.013 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782013726 8q24.3 8 143871971G> C null T S 403 403 missense 0.672 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782795010 8q24.3 8 143871969G> A null Q * 404 404 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782795010 8q24.3 8 143871969G> T null Q K 404 404 missense 0.053 benign 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782004304 8q24.3 8 143871965C> T null R Q 405 405 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201368120 8q24.3 8 143871966G> A null R W 405 405 missense 0.533 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661373 8q24.3 8 143871962T> C null Q R 406 406 missense 0.0 benign 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661370 8q24.3 8 143871959A> G null L P 407 407 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782346489 8q24.3 8 143871960G> C null L V 407 407 missense 0.975 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142484572 8q24.3 8 143871956G> A null S L 408 408 0.001198 missense 0.017 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781927849 8q24.3 8 143871954G> C null Q E 409 409 missense 0.019 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782327885 8q24.3 8 143871950G> T null A D 410 410 missense 0.587 possibly damaging 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661368 8q24.3 8 143871951C> T null A T 410 410 missense 0.007 benign 0.89 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782327885 8q24.3 8 143871950G> A null A V 410 410 missense 0.242 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661365 8q24.3 8 143871948C> T null G S 411 411 missense 0.001 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782692774 8q24.3 8 143871935T> C null D G 415 415 missense 0.989 probably damaging 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200370864 8q24.3 8 143871933C> A null G C 416 416 0.001597 missense 0.007 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200370864 8q24.3 8 143871933C> T null G S 416 416 0.001597 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs562163305 8q24.3 8 143871929G> T null T K 417 417 3.99E-4 missense 0.834 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs562163305 8q24.3 8 143871929G> A null T M 417 417 3.99E-4 missense 0.608 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs562163305 8q24.3 8 143871929G> C null T R 417 417 3.99E-4 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781848841 8q24.3 8 143871926T> C null H R 418 418 missense 0.005 benign 0.43 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1380799790 8q24.3 8 143871927G> A null H Y 418 418 missense 0.341 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs202152744 8q24.3 8 143871924C> T null G S 419 419 missense 0.006 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782568843 8q24.3 8 143871921C> T null G S 420 420 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782698275 8q24.3 8 143871915G> A null R C 422 422 missense 0.255 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs782075218 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871914C> T null R H 422 422 missense 0.0 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782019998 8q24.3 8 143871911T> C null Y C 423 423 missense 0.352 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661351 8q24.3 8 143871909C> T null E K 424 424 missense 0.005 benign 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1554661350 8q24.3 8 143871906G> A null Q * 425 425 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1451217328 8q24.3 8 143871904C> G null Q H 425 425 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1335669889 8q24.3 8 143871905T> C null Q R 425 425 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782120612 8q24.3 8 143871896G> A null A V 428 428 missense 0.067 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782002294 8q24.3 8 143871894G> A null L F 429 429 missense 0.073 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661347 8q24.3 8 143871890C> T null C Y 430 430 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782354575 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871888C> T null V I 431 431 missense 0.024 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782354575 8q24.3 8 143871888C> G null V L 431 431 missense 0.243 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782173051 8q24.3 8 143871884G> A null T I 432 432 missense 0.974 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782173051 8q24.3 8 143871884G> T null T N 432 432 missense 0.923 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782591671 8q24.3 8 143871882C> G null D H 433 433 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782591671 8q24.3 8 143871882C> T null D N 433 433 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661337 8q24.3 8 143871869C> T null G E 437 437 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs527426162 8q24.3 8 143871870C> T null G R 437 437 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782627454 8q24.3 8 143871867G> A null L F 438 438 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661336 8q24.3 8 143871864C> G null A P 439 439 missense 0.027 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782514934 8q24.3 8 143871861A> G null F L 440 440 missense 0.006 benign 0.96 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781815730 8q24.3 8 143871860A> G null F S 440 440 missense 0.731 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs371191891 8q24.3 8 143871855G> A null P S 442 442 2.0E-4 missense 0.797 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs371191891 8q24.3 8 143871855G> T null P T 442 442 2.0E-4 missense 0.951 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782457821 8q24.3 8 143871852G> A null L F 443 443 missense 0.091 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,TOPMed,gnomAD rs577724045 8q24.3 8 143871836C> T null R Q 448 448 2.0E-4 missense 0.0 benign 0.65 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs545081362 8q24.3 8 143871837G> A null R W 448 448 3.99E-4 missense 0.0 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563887366 8q24.3 8 143871834C> T null G R 449 449 missense 0.0 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782796580 8q24.3 8 143871833C> A null G V 449 449 missense 0.034 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781862195 8q24.3 8 143871831C> T null G R 450 450 missense 0.0 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1173992103 8q24.3 8 143871819C> T null G R 454 454 missense 0.059 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782098326 8q24.3 8 143871815G> T null P H 455 455 missense 0.639 possibly damaging 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782784165 8q24.3 8 143871816G> T null P T 455 455 missense 0.124 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1331358028 8q24.3 8 143871812G> A null P L 456 456 missense 0.007 benign 0.7 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1332069116 8q24.3 8 143871794G> A null T I 462 462 missense 0.586 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782145079 8q24.3 8 143871792G> C null R G 463 463 missense 0.338 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs369032863 8q24.3 8 143871791C> A null R L 463 463 missense 0.148 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs369032863 8q24.3 8 143871791C> T null R Q 463 463 missense 0.023 benign 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782145079 8q24.3 8 143871792G> A null R W 463 463 missense 0.011 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1260073913 8q24.3 8 143871789G> A null Q * 464 464 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC rs782365594 8q24.3 8 143871782A> G null L P 466 466 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1341436173 8q24.3 8 143871779C> G null S T 467 467 missense 0.005 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144598411 8q24.3 8 143871776G> A null T M 468 468 0.004193 missense 0.121 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1266346381 8q24.3 8 143871773G> C null A G 469 469 missense 0.616 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs929195358 8q24.3 8 143871774C> G null A P 469 469 missense 0.885 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782636977 8q24.3 8 143871770G> A null T I 470 470 missense 0.07 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782636977 8q24.3 8 143871770G> T null T K 470 470 missense 0.048 benign 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368661220 8q24.3 8 143871768C> T null A T 471 471 2.0E-4 missense 0.0 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782695903 8q24.3 8 143871767G> A null A V 471 471 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781883758 8q24.3 8 143871762C> T null V I 473 473 missense 0.007 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661297 8q24.3 8 143871748C> G null K N 477 477 missense 0.711 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1167881200 8q24.3 8 143871745G> C null F L 478 478 missense 0.039 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661294 8q24.3 8 143871746A> G null F S 478 478 missense 0.656 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782103429 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871743C> T null R Q 479 479 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187335528 8q24.3 8 143871744G> A null R W 479 479 0.002796 missense 0.648 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs531865050 8q24.3 8 143871737C> T null R Q 481 481 2.0E-4 missense 0.011 benign 0.61 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781998289 8q24.3 8 143871738G> A null R W 481 481 missense 0.804 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782282138 8q24.3 8 143871731A> C null V G 483 483 missense 0.803 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782335972 8q24.3 8 143871732C> T null V M 483 483 missense 0.608 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782032192 8q24.3 8 143871728G> A null S F 484 484 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782605919 8q24.3 8 143871714G> C null L V 489 489 missense 0.911 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661278 8q24.3 8 143871705C> T null E K 492 492 missense 0.031 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661276 8q24.3 8 143871701G> A null A V 493 493 missense 0.018 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1356890415 8q24.3 8 143871697G> C null I M 494 494 missense 0.668 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs557832916 8q24.3 8 143871699T> C null I V 494 494 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661270 8q24.3 8 143871695G> A null S F 495 495 missense 0.413 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661264 8q24.3 8 143871692G> A null S L 496 496 missense 0.001 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661267 8q24.3 8 143871693A> G null S P 496 496 missense 0.026 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1289313643 8q24.3 8 143871689T> G null E A 497 497 missense 0.031 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661263 8q24.3 8 143871681C> T null A T 500 500 missense 0.173 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs375157270 8q24.3 8 143871680G> A null A V 500 500 missense 0.007 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781848210 8q24.3 8 143871672C> G null A P 503 503 missense 0.748 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782763988 8q24.3 8 143871671G> A null A V 503 503 missense 0.015 benign 0.78 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs781843985 8q24.3 8 143871669G> A null Q * 504 504 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs781843985 8q24.3 8 143871669G> C null Q E 504 504 missense 0.033 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563887068 8q24.3 8 143871667C> A null Q H 504 504 missense 0.043 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661259 8q24.3 8 143871668T> C null Q R 504 504 missense 0.018 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661258 8q24.3 8 143871662T> C null Y C 506 506 missense 0.487 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782475403 8q24.3 8 143871663A> T null Y N 506 506 missense 0.106 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661257 8q24.3 8 143871660G> A null Q * 507 507 stop gained 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs568924917 8q24.3 8 143871659T> G null Q P 507 507 2.0E-4 missense 0.346 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661255 8q24.3 8 143871657C> T null E K 508 508 missense 0.083 benign 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661254 8q24.3 8 143871650G> A null T I 510 510 missense 0.033 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661253 8q24.3 8 143871647A> G null L P 511 511 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661252 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871644G> A null S F 512 512 missense 0.748 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782111699 8q24.3 8 143871642C> A null V L 513 513 missense 0.006 benign 0.43 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782111699 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871642C> T null V M 513 513 missense 0.023 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782340723 8q24.3 8 143871638T> G null E A 514 514 missense 0.526 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563887021 8q24.3 8 143871636T> C null K E 515 515 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs374046267 8q24.3 8 143871632A> G null L P 516 516 missense 0.858 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781933116 8q24.3 8 143871630C> T null A T 517 517 missense 0.095 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782295029 8q24.3 8 143871627C> T null A T 518 518 missense 0.017 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs13255110 8q24.3 8 143871624T> C null K E 519 519 0.4375 missense 0.0 benign 0.71 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782388399 8q24.3 8 143871617C> A null S I 521 521 missense 0.005 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs568730544 8q24.3 8 143871616G> C null S R 521 521 2.0E-4 missense 0.0 benign 0.83 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1035759818 8q24.3 8 143871615C> T null A T 522 522 missense 0.017 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1341059145 8q24.3 8 143871608A> C null L R 524 524 missense 0.311 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376431211 8q24.3 8 143871606C> T null E K 525 525 missense 0.013 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs887121746 8q24.3 8 143871603G> T null Q K 526 526 missense 0.051 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661235 8q24.3 8 143871600C> T null A T 527 527 missense 0.91 probably damaging 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661232 8q24.3 8 143871597C> T null A T 528 528 missense 0.025 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661228 8q24.3 8 143871590G> A null T I 530 530 missense 0.015 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661223 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871588C> T null A T 531 531 missense 0.037 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201083886 8q24.3 8 143871585T> C null R G 532 532 missense 0.006 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs993823349 8q24.3 8 143871578G> A null T I 534 534 missense 0.3 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1256204699 8q24.3 8 143871579T> G null T P 534 534 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs528701859 8q24.3 8 143871575A> G null F S 535 535 3.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661218 8q24.3 8 143871572G> A null S F 536 536 missense 0.206 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782772117 8q24.3 8 143871569C> A null G V 537 537 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661215 8q24.3 8 143871561C> T null D N 540 540 missense 0.005 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs370114857 8q24.3 8 143871558T> C null T A 541 541 missense 0.0 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661214 8q24.3 8 143871557G> C null T S 541 541 missense 0.023 benign 0.41 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781840567 8q24.3 8 143871555C> T null V M 542 542 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782724282 8q24.3 8 143871545C> G null G A 545 545 missense 0.121 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1303535874 8q24.3 8 143871543C> T null E K 546 546 missense 0.737 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782033350 8q24.3 8 143871536A> G null L P 548 548 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782033350 8q24.3 8 143871536A> C null L R 548 548 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781948875 8q24.3 8 143871528C> T null E K 551 551 missense 0.01 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661202 8q24.3 8 143871524A> C null I S 552 552 missense 0.87 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563886819 8q24.3 8 143871521A> T null I N 553 553 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs376450241 8q24.3 8 143871518T> G null D A 554 554 missense 0.356 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs564630517 8q24.3 8 143871519C> G null D H 554 554 2.0E-4 missense 0.903 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs564630517 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871519C> T null D N 554 554 2.0E-4 missense 0.017 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs376450241 8q24.3 8 143871518T> A null D V 554 554 missense 0.788 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1256175956 8q24.3 8 143871516G> A null Q * 555 555 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1462293818 8q24.3 8 143871515T> C null Q R 555 555 missense 0.003 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1201157343 8q24.3 8 143871512T> C null D G 556 556 missense 0.015 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141793860 8q24.3 8 143871505G> T null Y * 558 558 9.98E-4 stop gained 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs138650546 8q24.3 8 143871504C> T null E K 559 559 9.98E-4 missense 0.086 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs552461807 8q24.3 8 143871501G> C null R G 560 560 missense 0.0 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182592273 8q24.3 8 143871500C> T null R Q 560 560 2.0E-4 missense 0.0 benign 0.82 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs552461807 8q24.3 8 143871501G> A null R W 560 560 missense 0.533 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs377277699 8q24.3 8 143871497A> G null L P 561 561 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782796925 8q24.3 8 143871494T> C null E G 562 562 missense 0.076 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes rs544179184 8q24.3 8 143871491T> C null H R 563 563 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781868129 8q24.3 8 143871488C> T null G E 564 564 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs924282694 8q24.3 8 143871486G> A null Q * 565 565 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs924282694 8q24.3 8 143871486G> C null Q E 565 565 missense 0.019 benign 0.72 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661172 8q24.3 8 143871483C> T null A T 566 566 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782730778 8q24.3 8 143871476G> A null A V 568 568 missense 0.022 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782100157 8q24.3 8 143871471C> T null D N 570 570 missense 0.787 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1299718340 8q24.3 8 143871467A> C null V G 571 571 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782724289 8q24.3 8 143871461C> T null S N 573 573 missense 0.007 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782376849 8q24.3 8 143871452G> A null S L 576 576 missense 0.766 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782367356 8q24.3 8 143871449A> G null V A 577 577 missense 0.975 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782367356 8q24.3 8 143871449A> T null V E 577 577 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200172801 8q24.3 8 143871450C> T null V M 577 577 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563886665 8q24.3 8 143871443C> T null R K 579 579 missense 0.003 benign 0.74 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661154 8q24.3 8 143871439G> C null Y * 580 580 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661158 8q24.3 8 143871440T> C null Y C 580 580 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782558321 8q24.3 8 143871438G> T null L M 581 581 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661150 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871432C> T null G S 583 583 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201364082 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871428G> A null T M 584 584 2.0E-4 missense 0.942 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661146 8q24.3 8 143871425C> A null G V 585 585 missense 0.9 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs532595766 8q24.3 8 143871422C> T null C Y 586 586 missense 0.813 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661144 8q24.3 8 143871419A> G null I T 587 587 missense 0.497 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661145 8q24.3 8 143871420T> C null I V 587 587 missense 0.007 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1192084216 8q24.3 8 143871414C> T null G S 589 589 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782804714 8q24.3 8 143871408G> C null L V 591 591 missense 0.73 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661138 8q24.3 8 143871399C> T null G S 594 594 missense 0.013 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs540089146 8q24.3 8 143871395G> C null S C 595 595 2.0E-4 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs540089146 8q24.3 8 143871395G> A null S F 595 595 2.0E-4 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661135 8q24.3 8 143871392T> C null Q R 596 596 missense 0.382 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661133 8q24.3 8 143871390C> A null E * 597 597 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661133 8q24.3 8 143871390C> G null E Q 597 597 missense 0.164 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373435779 8q24.3 8 143871387G> A null R C 598 598 missense 0.804 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782736147 8q24.3 8 143871386C> T null R H 598 598 missense 0.804 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782333817 8q24.3 8 143871374T> C null Y C 602 602 missense 0.096 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781925668 8q24.3 8 143871375A> G null Y H 602 602 missense 0.061 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661128 8q24.3 8 143871368G> A null A V 604 604 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782377478 8q24.3 8 143871366G> A null R * 605 605 stop gained 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372641252 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871365C> T null R Q 605 605 missense 0.011 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782618104 8q24.3 8 143871363A> C null C G 606 606 missense 0.0 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782618104 8q24.3 8 143871363A> G null C R 606 606 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782433712 8q24.3 8 143871360T> A null K * 607 607 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782433712 8q24.3 8 143871360T> G null K Q 607 607 missense 0.07 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661120 8q24.3 8 143871357C> A null G W 608 608 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782195835 8q24.3 8 143871354G> A null L F 609 609 missense 0.06 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782195835 8q24.3 8 143871354G> T null L I 609 609 missense 0.025 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368404174 8q24.3 8 143871351G> A null L F 610 610 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782793983 8q24.3 8 143871347C> T null R Q 611 611 missense 0.918 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs569166266 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871348G> A null R W 611 611 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782465112 8q24.3 8 143871344G> A null P L 612 612 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200565970 8q24.3 8 143871342C> T null G S 613 613 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1476435916 8q24.3 8 143871338G> T null T N 614 614 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782756398 8q24.3 8 143871333G> A null L F 616 616 missense 0.657 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782756398 8q24.3 8 143871333G> C null L V 616 616 missense 0.899 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782044313 8q24.3 8 143871320T> G null E A 620 620 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781933166 8q24.3 8 143871318C> T null A T 621 621 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1041851289 8q24.3 8 143871315G> A null Q * 622 622 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661099 8q24.3 8 143871309C> T null A T 624 624 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782298190 8q24.3 8 143871300A> G null F L 627 627 missense 0.935 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs539563503 8q24.3 8 143871297T> A null I F 628 628 2.0E-4 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782385683 8q24.3 8 143871292G> C null I M 629 629 missense 0.503 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782210706 8q24.3 8 143871291C> T null D N 630 630 missense 0.264 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661086 8q24.3 8 143871283T> A null K N 632 632 missense 0.483 possibly damaging 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1554661087 8q24.3 8 143871284T> C null K R 632 632 missense 0.015 benign 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782616656 8q24.3 8 143871282C> G null A P 633 633 missense 0.093 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1554661084 8q24.3 8 143871273C> T null G R 636 636 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781815184 8q24.3 8 143871270G> A null H Y 637 637 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76100510 8q24.3 8 143871264C> T null V I 639 639 9.98E-4 missense 0.993 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563886405 8q24.3 8 143871254G> C null A G 642 642 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs951539492 8q24.3 8 143871246C> T null A T 645 645 missense 0.791 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1448940981 8q24.3 8 143871243C> T null A T 646 646 missense 0.026 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661078 8q24.3 8 143871239A> T null V D 647 647 missense 0.858 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs918698518 8q24.3 8 143871240C> A null V F 647 647 missense 0.605 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661077 8q24.3 8 143871236A> G null I T 648 648 missense 0.711 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661076 8q24.3 8 143871233C> T null G E 649 649 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661075 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871230G> A null P L 650 650 missense 0.01 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142055364 8q24.3 8 143871218G> T null A E 654 654 0.001198 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782268705 8q24.3 8 143871219C> T null A T 654 654 missense 0.001 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142055364 8q24.3 8 143871218G> A null A V 654 654 0.001198 missense 0.023 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs190772595 8q24.3 8 143871213G> T null L M 656 656 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs190772595 8q24.3 8 143871213G> C null L V 656 656 3.99E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371111245 8q24.3 8 143871209A> G null L P 657 657 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371111245 8q24.3 8 143871209A> C null L R 657 657 2.0E-4 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs530405726 8q24.3 8 143871206G> A null S L 658 658 2.0E-4 missense 0.955 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs530405726 8q24.3 8 143871206G> C null S W 658 658 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376915151 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871198G> A null R C 661 661 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373768611 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871197C> T null R H 661 661 missense 0.065 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376915151 8q24.3 8 143871198G> T null R S 661 661 missense 0.88 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781883516 8q24.3 8 143871195C> T null A T 662 662 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs550350896 8q24.3 8 143871192C> G null V L 663 663 2.0E-4 missense 0.495 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661051 8q24.3 8 143871185C> A null G V 665 665 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782102552 8q24.3 8 143871181G> T null Y * 666 666 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782731105 8q24.3 8 143871182T> C null Y C 666 666 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782731105 8q24.3 8 143871182T> A null Y F 666 666 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661049 8q24.3 8 143871183A> T null Y N 666 666 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs528884552 8q24.3 8 143871180T> C null T A 667 667 2.0E-4 missense 0.04 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661046 8q24.3 8 143871179G> A null T I 667 667 missense 0.66 possibly damaging 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1353158765 8q24.3 8 143871174G> A null P S 669 669 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782149425 8q24.3 8 143871171A> G null Y H 670 670 missense 0.858 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782388776 8q24.3 8 143871168T> C null T A 671 671 missense 0.114 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1461849869 8q24.3 8 143871167G> T null T N 671 671 missense 0.554 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1459925420 8q24.3 8 143871164C> T null G E 672 672 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781965772 8q24.3 8 143871165C> T null G R 672 672 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs540149900 8q24.3 8 143871159G> A null Q * 674 674 2.0E-4 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661039 8q24.3 8 143871157C> G null Q H 674 674 missense 0.562 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs540149900 8q24.3 8 143871159G> T null Q K 674 674 2.0E-4 missense 0.013 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1233225610 8q24.3 8 143871156T> G null I L 675 675 missense 0.154 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs782199244 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871152G> C null S C 676 676 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs528338708 8q24.3 8 143871150G> A null L F 677 677 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782539997 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871128C> T null G D 684 684 missense 0.0 benign 0.92 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782643426 8q24.3 8 143871120C> T null V I 687 687 missense 0.916 probably damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs937003274 8q24.3 8 143871116C> T null R Q 688 688 missense 0.075 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1177953666 8q24.3 8 143871117G> A null R W 688 688 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373498071 8q24.3 8 143871114C> T null E K 689 689 missense 0.124 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1330026806 8q24.3 8 143871110T> C null H R 690 690 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1279189784 8q24.3 8 143871107C> T null G D 691 691 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376433518 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871108C> T null G S 691 691 3.99E-4 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200946098 8q24.3 8 143871102G> A null R C 693 693 2.0E-4 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370224383 8q24.3 8 143871101C> T null R H 693 693 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782121907 8q24.3 8 143871089G> A null A V 697 697 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372469616 8q24.3 8 143871081C> T null A T 700 700 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782045792 8q24.3 8 143871077G> A null T M 701 701 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782045792 8q24.3 8 143871077G> C null T R 701 701 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661020 8q24.3 8 143871074C> T null G D 702 702 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1426560461 8q24.3 8 143871072C> T null G S 703 703 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782407539 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871069C> T null V I 704 704 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1169026845 8q24.3 8 143871066T> C null I V 705 705 missense 0.049 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781981460 8q24.3 8 143871063C> T null D N 706 706 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371514742 8q24.3 8 143871057C> T null V M 708 708 missense 0.983 probably damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563886085 8q24.3 8 143871054G> A null H Y 709 709 missense 0.187 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661010 8q24.3 8 143871051T> C null S G 710 710 missense 0.982 probably damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs367972256 8q24.3 8 143871045G> A null R C 712 712 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs574794307 8q24.3 8 143871044C> T null R H 712 712 2.0E-4 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs574794307 8q24.3 8 143871044C> A null R L 712 712 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC rs553375242 8q24.3 8 143871041A> G null V A 713 713 2.0E-4 missense 0.54 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs746589906 8q24.3 8 143871042C> A null V L 713 713 missense 0.043 benign 0.65 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs746589906 8q24.3 8 143871042C> G null V L 713 713 missense 0.043 benign 0.65 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs746589906 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871042C> T null V M 713 713 missense 0.812 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554661009 8q24.3 8 143871039G> A null P S 714 714 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782491999 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871036C> T null V M 715 715 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373803232 8q24.3 8 143871030C> T null V M 717 717 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12543389 8q24.3 8 143871023T> C null Y C 719 719 0.1048 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782124026 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871020C> T null R Q 720 720 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782758450 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871021G> A null R W 720 720 missense 0.533 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs150196045 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871018G> A null R C 721 721 2.0E-4 missense 0.003 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1432091962 8q24.3 8 143871017C> T null R H 721 721 missense 0.617 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1432091962 8q24.3 8 143871017C> G null R P 721 721 missense 0.824 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs537637399 8q24.3 8 143871015C> T null G S 722 722 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782411360 8q24.3 8 143871011T> G null Y S 723 723 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs570102962 8q24.3 8 143871008A> C null F C 724 724 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs530032622 8q24.3 8 143871007G> T null F L 724 724 0.001997 missense 0.271 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs530032622 8q24.3 8 143871007G> C null F L 724 724 0.001997 missense 0.271 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782440328 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143871006C> T null D N 725 725 missense 0.198 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782440328 8q24.3 8 143871006C> A null D Y 725 725 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781885447 8q24.3 8 143871003G> A null Q * 726 726 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782682325 8q24.3 8 143871001C> G null Q H 726 726 missense 0.562 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs781869647 8q24.3 8 143870998C> T null M I 727 727 missense 0.001 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782502320 8q24.3 8 143870999A> G null M T 727 727 missense 0.0 benign 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782731873 8q24.3 8 143870997G> C null L V 728 728 missense 0.171 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1328168315 8q24.3 8 143870984A> G null L P 732 732 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1225124427 8q24.3 8 143870981A> G null L S 733 733 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1296718631 8q24.3 8 143870978T> A null D V 734 734 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs375680720 8q24.3 8 143870976G> C null P A 735 735 2.0E-4 missense 0.931 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660989 8q24.3 8 143870975G> A null P L 735 735 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs375680720 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143870976G> A null P S 735 735 2.0E-4 missense 0.913 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782150393 8q24.3 8 143870967C> T null D N 738 738 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660987 8q24.3 8 143870963G> C null T S 739 739 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660986 8q24.3 8 143870961T> C null K E 740 740 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1205274071 8q24.3 8 143870958C> A null G C 741 741 missense 0.862 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1205274071 8q24.3 8 143870958C> T null G S 741 741 missense 0.997 probably damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs568067720 8q24.3 8 143870954A> C null F C 742 742 2.0E-4 missense 1.0 probably damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs568067720 8q24.3 8 143870954A> G null F S 742 742 2.0E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1188522148 8q24.3 8 143870948T> A null D V 744 744 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782306536 8q24.3 8 143870942T> C null N S 746 746 missense 0.802 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782306536 8q24.3 8 143870942T> G null N T 746 746 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs922567493 8q24.3 8 143870940T> C null T A 747 747 missense 0.982 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1162048442 8q24.3 8 143870939G> A null T M 747 747 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782432206 8q24.3 8 143870936T> A null H L 748 748 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782646346 8q24.3 8 143870934C> T null E K 749 749 missense 0.748 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782470494 8q24.3 8 143870925T> C null T A 752 752 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201572196 8q24.3 8 143870924G> T null T K 752 752 5.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201572196 8q24.3 8 143870924G> A null T M 752 752 5.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781889448 8q24.3 8 143870922A> G null Y H 753 753 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs199498210 8q24.3 8 143870919G> C null L V 754 754 missense 0.023 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200469188 8q24.3 8 143870907C> A null E * 758 758 stop gained 0 A0A075B730 EPPK1 Epiplakin Ensembl rs201438426 8q24.3 8 143870905C> G null E D 758 758 missense 0.147 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs202159155 8q24.3 8 143870906T> C null E G 758 758 missense 0.053 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200469188 8q24.3 8 143870907C> G null E Q 758 758 missense 0.522 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs538258870 8q24.3 8 143870904G> A null R C 759 759 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs528402076 8q24.3 8 143870903C> T null R H 759 759 9.98E-4 missense 0.962 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781929359 8q24.3 8 143870897A> C null V G 761 761 missense 0.925 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782802033 8q24.3 8 143870895G> A null R C 762 762 missense 0.005 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782802033 8q24.3 8 143870895G> C null R G 762 762 missense 0.121 benign 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs201849744 8q24.3 8 143870894C> T null R H 762 762 missense 0.001 benign 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs201849744 8q24.3 8 143870894C> G null R P 762 762 missense 0.288 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782802033 8q24.3 8 143870895G> T null R S 762 762 missense 0.066 benign 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563885824 8q24.3 8 143870892C> T null D N 763 763 missense 0.513 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs564039082 8q24.3 8 143870889G> T null P T 764 764 2.0E-4 missense 0.22 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs201677079 8q24.3 8 143870884C> G null E D 765 765 missense 0.0 benign 0.72 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1419995437 8q24.3 8 143870886C> T null E K 765 765 missense 0.086 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin NCI-TCGA,TOPMed,gnomAD rs560900428 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143870882G> A null T M 766 766 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781975519 8q24.3 8 143870873T> G null Y S 769 769 missense 0.005 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs200734146 8q24.3 8 143870871G> T null L I 770 770 missense 0.8 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782312611 8q24.3 8 143870870A> G null L P 770 770 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782203200 8q24.3 8 143870867A> G null L P 771 771 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782569725 8q24.3 8 143870865G> A null P S 772 772 missense 0.847 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782246286 8q24.3 8 143870862G> A null L F 773 773 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563885742 8q24.3 8 143870852G> A null T M 776 776 missense 0.006 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781783169 8q24.3 8 143870849T> C null Q R 777 777 missense 0.0 benign 0.78 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782710237 8q24.3 8 143870846G> C null S C 778 778 missense 0.0 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs542331099 8q24.3 8 143870843G> A null P L 779 779 2.0E-4 missense 0.0 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200744657 8q24.3 8 143870844G> A null P S 779 779 0.001398 missense 0.04 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782759057 8q24.3 8 143870840A> G null L P 780 780 missense 0.992 probably damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660937 8q24.3 8 143870838C> T null V M 781 781 missense 0.269 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781938674 8q24.3 8 143870832T> C null S G 783 783 missense 0.0 benign 0.72 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782410486 8q24.3 8 143870826T> C null T A 785 785 missense 0.084 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1042451464 8q24.3 8 143870821C> A null Q H 786 786 missense 0.163 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782170159 8q24.3 8 143870816G> T null A D 788 788 missense 0.015 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782170159 8q24.3 8 143870816G> A null A V 788 788 missense 0.029 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660928 8q24.3 8 143870811G> A null Q * 790 790 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660926 8q24.3 8 143870810T> C null Q R 790 790 missense 0.01 benign 0.71 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs541428503 8q24.3 8 143870793C> T null V M 796 796 2.0E-4 missense 0.123 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782679149 8q24.3 8 143870786T> C null Y C 798 798 missense 0.003 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs577658185 8q24.3 8 143870780C> T null R Q 800 800 2.0E-4 missense 0.896 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs377551729 8q24.3 8 143870781G> A null R W 800 800 missense 0.189 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660912 8q24.3 8 143870777A> G null F S 801 801 missense 0.663 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660908 8q24.3 8 143870775G> A null Q * 802 802 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1472384089 8q24.3 8 143870771C> T null G E 803 803 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782154815 8q24.3 8 143870765C> T null R K 805 805 missense 0.013 benign 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1431512802 8q24.3 8 143870763C> T null V I 806 806 missense 0.039 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs781907225 8q24.3 8 143870759G> A null S F 807 807 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782549936 8q24.3 8 143870757C> A null A S 808 808 missense 0.51 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782549936 8q24.3 8 143870757C> T null A T 808 808 missense 0.24 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1358449158 8q24.3 8 143870756G> A null A V 808 808 missense 0.011 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1348288888 8q24.3 8 143870753C> T null W * 809 809 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660895 8q24.3 8 143870752C> T null W * 809 809 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1408817275 8q24.3 8 143870751C> T null E K 810 810 missense 0.096 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1283469582 8q24.3 8 143870750T> A null E V 810 810 missense 0.243 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660892 8q24.3 8 143870732T> C null Y C 816 816 missense 0.011 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660890 8q24.3 8 143870729A> C null F C 817 817 missense 0.855 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782241330 8q24.3 8 143870728G> T null F L 817 817 missense 0.009 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs377501477 8q24.3 8 143870724C> T null E K 819 819 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs377501477 8q24.3 8 143870724C> G null E Q 819 819 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes rs117667958 8q24.3 8 143870721C> T null G S 820 820 2.0E-4 missense 0.015 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782226851 8q24.3 8 143870718G> A null R C 821 821 missense 0.011 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782713606 8q24.3 8 143870717C> T null R H 821 821 missense 0.578 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782467181 8q24.3 8 143870713C> G null R S 822 822 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1223543622 8q24.3 8 143870700G> A null R C 827 827 missense 0.648 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781877845 8q24.3 8 143870699C> T null R H 827 827 missense 0.007 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781877845 8q24.3 8 143870699C> G null R P 827 827 missense 0.395 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143806771 8q24.3 8 143870697G> A null R C 828 828 3.99E-4 missense 0.292 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182198840 8q24.3 8 143870696C> T null R H 828 828 0.00599 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781795632 8q24.3 8 143870693T> C null Y C 829 829 missense 0.091 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201267626 8q24.3 8 143870690C> G null R P 830 830 2.0E-4 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201267626 8q24.3 8 143870690C> T null R Q 830 830 2.0E-4 missense 0.11 benign 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782780393 8q24.3 8 143870691G> A null R W 830 830 missense 0.067 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660869 8q24.3 8 143870686C> G null Q H 831 831 missense 0.115 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs369375544 8q24.3 8 143870685G> A null R C 832 832 missense 0.731 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs535561821 8q24.3 8 143870684C> T null R H 832 832 2.0E-4 missense 0.003 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660865 8q24.3 8 143870681T> C null E G 833 833 missense 0.031 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200175131 8q24.3 8 143870682C> T null E K 833 833 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs375593815 8q24.3 8 143870675G> A null T M 835 835 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed rs372201257 8q24.3 8 143870673G> C null L V 836 836 missense 0.225 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660863 8q24.3 8 143870664C> A null V L 839 839 missense 0.015 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660862 8q24.3 8 143870661C> T null A T 840 840 missense 0.007 benign 0.82 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1363318774 8q24.3 8 143870648T> G null E A 844 844 missense 0.121 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368491047 8q24.3 8 143870645G> A null A V 845 845 missense 0.027 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192089443 8q24.3 8 143870639G> A null T M 847 847 3.99E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782575760 8q24.3 8 143870640T> A null T S 847 847 missense 0.0 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781893906 8q24.3 8 143870636T> C null Q R 848 848 missense 0.0 benign 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660850 8q24.3 8 143870631G> A null Q * 850 850 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782773092 8q24.3 8 143870630T> A null Q L 850 850 missense 0.037 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782743415 8q24.3 8 143870627G> C null A G 851 851 missense 0.119 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs782743415 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143870627G> A null A V 851 851 missense 0.001 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782798313 8q24.3 8 143870615A> G null L P 855 855 missense 0.742 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781933509 8q24.3 8 143870616G> C null L V 855 855 missense 0.011 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660843 8q24.3 8 143870613G> A null P S 856 856 missense 0.268 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs757861517 8q24.3 8 143870610C> A null A S 857 857 missense 0.007 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs757861517 8q24.3 8 143870610C> T null A T 857 857 missense 0.005 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660837 8q24.3 8 143870606A> G null L P 858 858 missense 0.105 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201462183 8q24.3 8 143870603C> T null R Q 859 859 missense 0.102 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782397509 8q24.3 8 143870604G> A null R W 859 859 missense 0.977 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782321586 8q24.3 8 143870597C> A null R L 861 861 missense 0.041 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782321586 8q24.3 8 143870597C> T null R Q 861 861 missense 0.001 benign 0.82 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781977688 8q24.3 8 143870598G> A null R W 861 861 missense 0.003 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782207092 8q24.3 8 143870595C> T null V I 862 862 missense 0.271 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs377570873 8q24.3 8 143870591G> A null T I 863 863 missense 0.424 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782488709 8q24.3 8 143870589C> T null V I 864 864 missense 0.001 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782254741 8q24.3 8 143870583G> C null Q E 866 866 missense 0.003 benign 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1163518051 8q24.3 8 143870570G> A null A V 870 870 missense 0.913 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373835301 8q24.3 8 143870568C> A null G C 871 871 2.0E-4 missense 0.007 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185987090 8q24.3 8 143870567C> T null G D 871 871 0.004393 missense 0.001 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373835301 8q24.3 8 143870568C> T null G S 871 871 2.0E-4 missense 0.023 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185987090 8q24.3 8 143870567C> A null G V 871 871 0.004393 missense 0.046 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1016571740 8q24.3 8 143870561A> G null I T 873 873 missense 0.9 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1006218649 8q24.3 8 143870556G> A null Q * 875 875 stop gained 0 A0A075B730 EPPK1 Epiplakin Ensembl rs954316105 8q24.3 8 143870551C> G null Q H 876 876 missense 0.0 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1317580920 8q24.3 8 143870543T> G null D A 879 879 missense 0.194 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1354577761 8q24.3 8 143870541G> C null Q E 880 880 missense 0.037 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1227985722 8q24.3 8 143870532C> G null A P 883 883 missense 0.372 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1227985722 8q24.3 8 143870532C> T null A T 883 883 missense 0.005 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781827938 8q24.3 8 143870529C> T null G R 884 884 missense 0.003 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781827938 8q24.3 8 143870529C> G null G R 884 884 missense 0.003 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782057366 8q24.3 8 143870522A> C null I S 886 886 missense 0.09 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs750420105 8q24.3 8 143870523T> C null I V 886 886 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782416054 8q24.3 8 143870516G> A null P L 888 888 missense 0.019 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781945222 8q24.3 8 143870517G> A null P S 888 888 missense 0.033 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781999590 8q24.3 8 143870512C> G null E D 889 889 missense 0.009 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782576222 8q24.3 8 143870501A> T null L H 893 893 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660801 8q24.3 8 143870498A> G null M T 894 894 missense 0.007 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs558832291 8q24.3 8 143870494G> T null D E 895 895 2.0E-4 missense 0.049 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660800 8q24.3 8 143870495T> A null D V 895 895 missense 0.788 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782505942 8q24.3 8 143870492C> T null G D 896 896 missense 0.0 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782685248 8q24.3 8 143870493C> G null G R 896 896 missense 0.001 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782685248 8q24.3 8 143870493C> T null G S 896 896 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs7012390 8q24.3 8 143870489A> T null V D 897 897 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782597857 8q24.3 8 143870490C> T null V I 897 897 missense 0.042 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782500907 8q24.3 8 143870487G> A null R C 898 898 missense 0.018 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781795230 8q24.3 8 143870486C> T null R H 898 898 missense 0.007 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782734552 8q24.3 8 143870484T> C null R G 899 899 missense 0.173 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs369970461 8q24.3 8 143870477A> G null L P 901 901 missense 0.42 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781847412 8q24.3 8 143870473G> T null C * 902 902 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660790 8q24.3 8 143870474C> A null C F 902 902 missense 0.003 benign 0.64 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660790 8q24.3 8 143870474C> T null C Y 902 902 missense 0.037 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782770978 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143870472C> T null G S 903 903 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782078455 8q24.3 8 143870471C> A null G V 903 903 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs782304774 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143870463C> T null A T 906 906 missense 0.011 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660786 8q24.3 8 143870462G> A null A V 906 906 missense 0.006 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660785 8q24.3 8 143870460C> T null V M 907 907 missense 0.595 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660784 8q24.3 8 143870456C> T null G D 908 908 missense 0.936 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs576637287 8q24.3 8 143870454C> T null G S 909 909 2.0E-4 missense 0.629 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1267550882 8q24.3 8 143870451C> T null V M 910 910 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782430138 8q24.3 8 143870447C> T null R Q 911 911 missense 0.142 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373257586 8q24.3 8 143870448G> A null R W 911 911 2.0E-4 missense 0.365 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782654733 8q24.3 8 143870444A> G null L P 912 912 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782347303 8q24.3 8 143870441A> G null L P 913 913 missense 0.0 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs112031224 8q24.3 8 143870439G> C null P A 914 914 missense 0.018 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1186563431 8q24.3 8 143870438G> T null P H 914 914 missense 0.874 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs112031224 8q24.3 8 143870439G> A null P S 914 914 missense 0.056 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1470942284 8q24.3 8 143870435G> A null S F 915 915 missense 0.359 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660775 8q24.3 8 143870432C> G null G A 916 916 missense 0.003 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660777 8q24.3 8 143870433C> T null G S 916 916 missense 0.04 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660774 8q24.3 8 143870430G> A null Q * 917 917 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660773 8q24.3 8 143870429T> C null Q R 917 917 missense 0.009 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782454996 8q24.3 8 143870426C> T null R Q 918 918 missense 0.001 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs369413834 8q24.3 8 143870427G> A null R W 918 918 missense 0.003 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782618588 8q24.3 8 143870413G> C null Y * 922 922 stop gained 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs374959845 8q24.3 8 143870414T> G null Y S 922 922 missense 0.866 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660765 8q24.3 8 143870412G> A null Q * 923 923 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1414314602 8q24.3 8 143870408G> T null A D 924 924 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782514891 8q24.3 8 143870409C> A null A S 924 924 missense 0.87 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782514891 8q24.3 8 143870409C> T null A T 924 924 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1329954334 8q24.3 8 143870404C> T null M I 925 925 missense 0.137 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660760 8q24.3 8 143870405A> G null M T 925 925 missense 0.137 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660758 8q24.3 8 143870402C> T null R K 926 926 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660757 8q24.3 8 143870400G> C null Q E 927 927 missense 0.0 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660757 8q24.3 8 143870400G> T null Q K 927 927 missense 0.0 benign 0.43 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1408207724 8q24.3 8 143870399T> C null Q R 927 927 missense 0.0 benign 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781818533 8q24.3 8 143870394G> C null L V 929 929 missense 0.095 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660750 8q24.3 8 143870384G> A null P L 932 932 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1342782503 8q24.3 8 143870378A> C null V G 934 934 missense 0.308 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs573111996 8q24.3 8 143870375G> T null A D 935 935 missense 0.56 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782807079 8q24.3 8 143870370C> G null A P 937 937 missense 0.006 benign 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660735 8q24.3 8 143870367G> C null L V 938 938 missense 0.799 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782160551 8q24.3 8 143870363A> G null L P 939 939 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660733 8q24.3 8 143870361C> T null E K 940 940 missense 0.799 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781986524 8q24.3 8 143870355G> A null Q * 942 942 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781986524 8q24.3 8 143870355G> T null Q K 942 942 missense 0.797 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782782110 8q24.3 8 143870351G> C null A G 943 943 missense 0.244 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782782110 8q24.3 8 143870351G> A null A V 943 943 missense 0.344 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1250530488 8q24.3 8 143870349C> T null A T 944 944 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,TOPMed,gnomAD rs536433713 8q24.3 8 143870345G> A null T I 945 945 2.0E-4 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782315497 8q24.3 8 143870343C> T null G R 946 946 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs371622431 8q24.3 8 143870334T> C null M V 949 949 missense 0.0 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs572261532 8q24.3 8 143870329G> T null D E 950 950 2.0E-4 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782441674 8q24.3 8 143870327G> A null P L 951 951 missense 0.956 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782022570 8q24.3 8 143870328G> A null P S 951 951 missense 0.678 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782250924 8q24.3 8 143870324T> C null H R 952 952 missense 0.003 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782484039 8q24.3 8 143870320G> C null S R 953 953 missense 0.165 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660719 8q24.3 8 143870316C> T null E K 955 955 missense 0.019 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782581953 8q24.3 8 143870309A> G null L P 957 957 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782179152 8q24.3 8 143870310G> C null L V 957 957 missense 0.651 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201986539 8q24.3 8 143870306G> A null S L 958 958 0.001198 missense 0.67 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782535367 8q24.3 8 143870307A> G null S P 958 958 missense 0.039 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201986539 8q24.3 8 143870306G> C null S W 958 958 0.001198 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660716 8q24.3 8 143870304C> A null V L 959 959 missense 0.119 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs375782221 8q24.3 8 143870300T> C null D G 960 960 missense 0.039 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1329323517 8q24.3 8 143870297T> C null E G 961 961 missense 0.866 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs375057041 8q24.3 8 143870295C> G null A P 962 962 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs375057041 8q24.3 8 143870295C> T null A T 962 962 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs180988510 8q24.3 8 143870292C> A null V L 963 963 0.002796 missense 0.974 probably damaging 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs180988510 8q24.3 8 143870292C> T null V M 963 963 0.002796 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs570137863 8q24.3 8 143870289G> A null R C 964 964 2.0E-4 missense 0.003 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375935264 8q24.3 8 143870288C> T null R H 964 964 2.0E-4 missense 0.019 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782332162 8q24.3 8 143870286T> C null R G 965 965 missense 0.342 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs965547882 8q24.3 8 143870284C> A null R S 965 965 missense 0.194 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781914481 8q24.3 8 143870282C> G null G A 966 966 missense 0.202 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1273539089 8q24.3 8 143870283C> T null G S 966 966 missense 0.261 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781914481 8q24.3 8 143870282C> A null G V 966 966 missense 0.63 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782279066 8q24.3 8 143870280C> T null V M 967 967 missense 0.249 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1264622880 8q24.3 8 143870276A> C null V G 968 968 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782504665 8q24.3 8 143870277C> A null V L 968 968 missense 0.762 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782482565 8q24.3 8 143870270G> A null P L 970 970 missense 0.187 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660701 8q24.3 8 143870264A> G null L P 972 972 missense 0.748 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1021086283 8q24.3 8 143870261T> C null Y C 973 973 missense 0.007 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1250372491 8q24.3 8 143870259C> G null G R 974 974 missense 0.406 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782542759 8q24.3 8 143870254C> G null R S 975 975 missense 0.121 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368221168 8q24.3 8 143870246C> A null R L 978 978 missense 0.103 benign 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368221168 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143870246C> T null R Q 978 978 missense 0.005 benign 0.62 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs28438795 8q24.3 8 143870247G> A null R W 978 978 missense 0.003 benign 0.36 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,gnomAD rs188074541 8q24.3 8 143870241C> G null E Q 980 980 2.0E-4 missense 0.982 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660687 8q24.3 8 143870240T> A null E V 980 980 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660685 8q24.3 8 143870238C> T null G S 981 981 missense 0.037 benign 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1459621544 8q24.3 8 143870235C> A null A S 982 982 missense 0.103 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782700952 8q24.3 8 143870234G> A null A V 982 982 missense 0.341 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs141788635 8q24.3 8 143870231A> C null I S 983 983 0.004992 missense 0.013 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782044175 8q24.3 8 143870228G> A null A V 984 984 missense 0.0 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs781938496 8q24.3 8 143870225C> G null G A 985 985 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs781938496 8q24.3 8 143870225C> A null G V 985 985 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660672 8q24.3 8 143870219C> T null R K 987 987 missense 0.019 benign 0.65 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660671 8q24.3 8 143870216T> C null D G 988 988 missense 0.927 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782168343 8q24.3 8 143870217C> T null D N 988 988 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1432713839 8q24.3 8 143870211A> G null F L 990 990 missense 0.011 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1296554281 8q24.3 8 143870205C> T null G R 992 992 missense 0.399 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1296554281 8q24.3 8 143870205C> A null G W 992 992 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660663 8q24.3 8 143870197C> G null Q H 994 994 missense 0.264 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782175370 8q24.3 8 143870196C> A null V L 995 995 missense 0.009 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782175370 8q24.3 8 143870196C> T null V M 995 995 missense 0.525 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs147934659 8q24.3 8 143870192G> C null S C 996 996 2.0E-4 missense 0.099 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660660 8q24.3 8 143870184G> A null Q * 999 999 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1355045278 8q24.3 8 143870180G> C null A G 1000 1000 missense 0.896 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660658 8q24.3 8 143870181C> T null A T 1000 1000 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs547927777 8q24.3 8 143870176C> T null M I 1001 1001 2.0E-4 missense 0.269 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs547927777 8q24.3 8 143870176C> G null M I 1001 1001 2.0E-4 missense 0.269 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782253017 8q24.3 8 143870178T> C null M V 1001 1001 missense 0.05 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781814353 8q24.3 8 143870166G> T null L I 1005 1005 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781814353 8q24.3 8 143870166G> C null L V 1005 1005 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660647 8q24.3 8 143870160G> A null P S 1007 1007 missense 0.006 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs895661487 8q24.3 8 143870148C> T null A T 1011 1011 missense 0.096 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs781827943 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143870142G> A null R C 1013 1013 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs536400290 8q24.3 8 143870141C> T null R H 1013 1013 missense 0.166 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs536400290 8q24.3 8 143870141C> G null R P 1013 1013 missense 0.962 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200054235 8q24.3 8 143870130C> T null A T 1017 1017 missense 0.799 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660639 8q24.3 8 143870129G> A null A V 1017 1017 missense 0.979 probably damaging 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782795255 8q24.3 8 143870124C> T null V M 1019 1019 missense 0.428 benign 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781919383 8q24.3 8 143870117G> A null T I 1021 1021 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782354878 8q24.3 8 143870111C> T null G E 1023 1023 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660632 8q24.3 8 143870112C> T null G R 1023 1023 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1454428698 8q24.3 8 143870109T> C null I V 1024 1024 missense 0.0 benign 0.94 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782363947 8q24.3 8 143870105A> T null I N 1025 1025 missense 0.837 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782363947 8q24.3 8 143870105A> G null I T 1025 1025 missense 0.116 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660630 8q24.3 8 143870106T> C null I V 1025 1025 missense 0.015 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782289008 8q24.3 8 143870102T> G null D A 1026 1026 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1554660625 8q24.3 8 143870101G> T null D E 1026 1026 missense 0.708 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782237315 8q24.3 8 143870097T> C null T A 1028 1028 missense 0.0 benign 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782237315 8q24.3 8 143870097T> G null T P 1028 1028 missense 0.134 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201821354 8q24.3 8 143870094T> C null S G 1029 1029 3.99E-4 missense 0.0 benign 0.76 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782534192 8q24.3 8 143870092G> C null S R 1029 1029 missense 0.027 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782529610 8q24.3 8 143870086G> T null H Q 1031 1031 missense 0.471 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1319746426 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143870087T> C null H R 1031 1031 missense 0.372 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781809586 8q24.3 8 143870083G> T null H Q 1032 1032 missense 0.725 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660615 8q24.3 8 143870081A> G null L P 1033 1033 missense 0.9 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782486293 8q24.3 8 143870074C> T null M I 1035 1035 missense 0.053 benign 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782486293 8q24.3 8 143870074C> A null M I 1035 1035 missense 0.053 benign 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782697399 8q24.3 8 143870075A> T null M K 1035 1035 missense 0.164 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660612 8q24.3 8 143870076T> G null M L 1035 1035 missense 0.001 benign 0.41 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782697399 8q24.3 8 143870075A> G null M T 1035 1035 missense 0.003 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs200722183 8q24.3 8 143870073G> A null P S 1036 1036 missense 0.003 benign 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782108797 8q24.3 8 143870070C> G null V L 1037 1037 missense 0.148 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660603 8q24.3 8 143870066G> T null A D 1038 1038 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660606 8q24.3 8 143870067C> A null A S 1038 1038 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782024887 8q24.3 8 143870060T> A null Q L 1040 1040 missense 0.544 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782024887 8q24.3 8 143870060T> C null Q R 1040 1040 missense 0.031 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116925616 8q24.3 8 143870058G> A null R C 1041 1041 0.007388 missense 0.96 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs118079568 8q24.3 8 143870057C> T null R H 1041 1041 0.005192 missense 0.96 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs118079568 8q24.3 8 143870057C> G null R P 1041 1041 0.005192 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660600 8q24.3 8 143870054C> T null G D 1042 1042 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782349419 8q24.3 8 143870051T> C null Y C 1043 1043 missense 0.0 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782349419 8q24.3 8 143870051T> G null Y S 1043 1043 missense 0.109 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660596 8q24.3 8 143870045T> C null D G 1045 1045 missense 0.495 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1208685814 8q24.3 8 143870043G> A null Q * 1046 1046 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs782418603 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143870035C> T null M I 1048 1048 missense 0.045 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781990330 8q24.3 8 143870037T> C null M V 1048 1048 missense 0.027 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373294651 8q24.3 8 143870034C> G null E Q 1049 1049 missense 0.031 benign 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660590 8q24.3 8 143870031T> C null T A 1050 1050 missense 0.0 benign 0.78 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660588 8q24.3 8 143870030G> C null T R 1050 1050 missense 0.001 benign 0.61 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1199085077 8q24.3 8 143870027G> T null A D 1051 1051 missense 0.49 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1199085077 8q24.3 8 143870027G> A null A V 1051 1051 missense 0.006 benign 0.51 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1255822926 8q24.3 8 143870021G> A null S F 1053 1053 missense 0.085 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs561417970 8q24.3 8 143870019T> C null S G 1054 1054 2.0E-4 missense 0.0 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782598709 8q24.3 8 143870018C> G null S T 1054 1054 missense 0.053 benign 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781851331 8q24.3 8 143870015G> A null S F 1055 1055 missense 0.568 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782518714 8q24.3 8 143870016A> G null S P 1055 1055 missense 0.001 benign 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563884622 8q24.3 8 143870013A> G null S P 1056 1056 missense 0.0 benign 0.5 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs543266755 8q24.3 8 143870010C> T null E K 1057 1057 2.0E-4 missense 0.003 benign 0.87 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782745770 8q24.3 8 143870009T> A null E V 1057 1057 missense 0.165 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376145038 8q24.3 8 143870006G> A null T I 1058 1058 missense 0.962 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1410079924 8q24.3 8 143870004A> G null F L 1059 1059 missense 0.887 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782769560 8q24.3 8 143870000G> A null P L 1060 1060 missense 0.274 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782169960 8q24.3 8 143869994G> A null P L 1062 1062 missense 0.104 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782169960 8q24.3 8 143869994G> C null P R 1062 1062 missense 0.938 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1227186628 8q24.3 8 143869992C> T null D N 1063 1063 missense 0.059 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782176487 8q24.3 8 143869989C> T null G S 1064 1064 missense 0.236 benign 0.65 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs116816681 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869980G> A null R C 1067 1067 0.006989 missense 0.436 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146710659 8q24.3 8 143869979C> T null R H 1067 1067 0.002196 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372633695 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869976G> A null T M 1068 1068 2.0E-4 missense 0.503 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs895766255 8q24.3 8 143869969A> T null Y * 1070 1070 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660559 8q24.3 8 143869971A> G null Y H 1070 1070 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660558 8q24.3 8 143869967G> T null A D 1071 1071 missense 0.667 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1200217205 8q24.3 8 143869968C> T null A T 1071 1071 missense 0.015 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782268272 8q24.3 8 143869954C> G null E D 1075 1075 missense 0.234 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660554 8q24.3 8 143869949C> T null C Y 1077 1077 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782567976 8q24.3 8 143869947G> A null P S 1078 1078 missense 0.003 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782503221 8q24.3 8 143869943C> T null R K 1079 1079 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs536640790 8q24.3 8 143869941C> T null D N 1080 1080 2.0E-4 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs569586589 8q24.3 8 143869936C> G null E D 1081 1081 2.0E-4 missense 0.116 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs377271599 8q24.3 8 143869938C> T null E K 1081 1081 missense 0.003 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs377271599 8q24.3 8 143869938C> G null E Q 1081 1081 missense 0.022 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660548 8q24.3 8 143869928C> T null G D 1084 1084 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660551 8q24.3 8 143869929C> T null G S 1084 1084 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782068808 8q24.3 8 143869926G> A null L F 1085 1085 missense 0.099 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs372616591 8q24.3 8 143869925A> G null L P 1085 1085 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782068808 8q24.3 8 143869926G> C null L V 1085 1085 missense 0.062 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660544 8q24.3 8 143869921G> C null H Q 1086 1086 missense 0.038 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1293576913 8q24.3 8 143869923G> A null H Y 1086 1086 missense 0.0 benign 0.83 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs548195746 8q24.3 8 143869913G> A null P L 1089 1089 2.0E-4 missense 0.478 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660542 8q24.3 8 143869914G> A null P S 1089 1089 missense 0.135 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660542 8q24.3 8 143869914G> T null P T 1089 1089 missense 0.565 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1217999251 8q24.3 8 143869911G> C null L V 1090 1090 missense 0.319 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782080796 8q24.3 8 143869907G> A null P L 1091 1091 missense 0.003 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200211342 8q24.3 8 143869899C> T null A T 1094 1094 0.005192 missense 0.007 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs184122026 8q24.3 8 143869898G> A null A V 1094 1094 3.99E-4 missense 0.124 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782161337 8q24.3 8 143869896G> T null P T 1095 1095 missense 0.027 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1341716760 8q24.3 8 143869890G> A null L F 1097 1097 missense 0.112 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375623650 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869881C> T null E K 1100 1100 missense 0.01 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782392788 8q24.3 8 143869873C> G null Q H 1102 1102 missense 0.046 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782249042 8q24.3 8 143869868T> C null Q R 1104 1104 missense 0.003 benign 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs868954705 8q24.3 8 143869863T> C null S G 1106 1106 missense 0.025 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372424208 8q24.3 8 143869857G> A null Q * 1108 1108 stop gained 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368177321 8q24.3 8 143869853G> A null A V 1109 1109 missense 0.077 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1428677018 8q24.3 8 143869850A> G null V A 1110 1110 missense 0.0 benign 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs370164663 8q24.3 8 143869851C> G null V L 1110 1110 missense 0.0 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs370164663 8q24.3 8 143869851C> T null V M 1110 1110 missense 0.001 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs571639648 8q24.3 8 143869847G> A null P L 1111 1111 3.99E-4 missense 0.0 benign 0.68 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs571639648 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869847G> T null P Q 1111 1111 3.99E-4 missense 0.003 benign 0.36 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs571639648 8q24.3 8 143869847G> C null P R 1111 1111 3.99E-4 missense 0.001 benign 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660529 8q24.3 8 143869848G> A null P S 1111 1111 missense 0.027 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782060237 8q24.3 8 143869844C> G null G A 1112 1112 missense 0.012 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782060237 8q24.3 8 143869844C> T null G E 1112 1112 missense 0.525 possibly damaging 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782351792 8q24.3 8 143869841G> T null A D 1113 1113 missense 0.005 benign 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660525 8q24.3 8 143869842C> T null A T 1113 1113 missense 0.001 benign 0.68 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782351792 8q24.3 8 143869841G> A null A V 1113 1113 missense 0.058 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782137041 8q24.3 8 143869835T> C null D G 1115 1115 missense 0.007 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs988783253 8q24.3 8 143869833C> A null G C 1116 1116 missense 0.906 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660524 8q24.3 8 143869832C> T null G D 1116 1116 missense 0.509 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs373850122 8q24.3 8 143869823A> C null L R 1119 1119 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs550193229 8q24.3 8 143869817T> C null D G 1121 1121 2.0E-4 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781937838 8q24.3 8 143869808C> A null S I 1124 1124 missense 0.025 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781937838 8q24.3 8 143869808C> T null S N 1124 1124 missense 0.0 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781937838 8q24.3 8 143869808C> G null S T 1124 1124 missense 0.0 benign 0.48 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782311346 8q24.3 8 143869806A> G null S P 1125 1125 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1295816938 8q24.3 8 143869799T> G null H P 1127 1127 missense 0.693 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1295816938 8q24.3 8 143869799T> C null H R 1127 1127 missense 0.012 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660510 8q24.3 8 143869795G> T null F L 1128 1128 missense 0.028 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660509 8q24.3 8 143869793G> A null T I 1129 1129 missense 0.77 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs561302435 8q24.3 8 143869791C> T null E K 1130 1130 2.0E-4 missense 0.155 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782512370 8q24.3 8 143869788C> T null E K 1131 1131 missense 0.039 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782238937 8q24.3 8 143869783T> G null Q H 1132 1132 missense 0.043 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs781805386 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869781C> T null R Q 1133 1133 missense 0.753 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs7816413 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869782G> A null R W 1133 1133 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1220916232 8q24.3 8 143869778C> T null R K 1134 1134 missense 0.006 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782691144 8q24.3 8 143869777C> G null R S 1134 1134 missense 0.121 benign 0.36 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660498 8q24.3 8 143869775C> A null G V 1135 1135 missense 0.012 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs782783704 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869767C> G null E Q 1138 1138 missense 0.11 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373279236 8q24.3 8 143869762G> C null D E 1139 1139 missense 0.574 possibly damaging 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782053502 8q24.3 8 143869761C> T null V M 1140 1140 missense 0.334 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660493 8q24.3 8 143869756C> A null Q H 1141 1141 missense 0.465 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781965596 8q24.3 8 143869757T> C null Q R 1141 1141 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660491 8q24.3 8 143869752C> T null G R 1143 1143 missense 0.031 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs542975926 8q24.3 8 143869743T> C null T A 1146 1146 3.99E-4 missense 0.225 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1459305807 8q24.3 8 143869736G> T null P Q 1148 1148 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781982686 8q24.3 8 143869737G> A null P S 1148 1148 missense 0.0 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660490 8q24.3 8 143869734G> A null Q * 1149 1149 stop gained 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs376516666 8q24.3 8 143869732C> A null Q H 1149 1149 missense 0.562 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs527960334 8q24.3 8 143869724G> T null A D 1152 1152 3.99E-4 missense 0.006 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782431954 8q24.3 8 143869725C> A null A S 1152 1152 missense 0.124 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs527960334 8q24.3 8 143869724G> A null A V 1152 1152 3.99E-4 missense 0.299 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1364932629 8q24.3 8 143869722A> G null S P 1153 1153 missense 0.0 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs560349203 8q24.3 8 143869718A> G null V A 1154 1154 2.0E-4 missense 0.007 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs560349203 8q24.3 8 143869718A> T null V E 1154 1154 2.0E-4 missense 0.277 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1015529770 8q24.3 8 143869719C> T null V M 1154 1154 missense 0.085 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs545187585 8q24.3 8 143869712C> A null R M 1156 1156 2.0E-4 missense 0.54 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1377246422 8q24.3 8 143869711C> A null R S 1156 1156 missense 0.001 benign 0.79 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660479 8q24.3 8 143869709C> T null W * 1157 1157 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660481 8q24.3 8 143869710A> C null W G 1157 1157 missense 0.0 benign 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782657605 8q24.3 8 143869706A> C null V G 1158 1158 missense 0.049 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660474 8q24.3 8 143869704G> A null Q * 1159 1159 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660473 8q24.3 8 143869703T> C null Q R 1159 1159 missense 0.001 benign 0.72 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1227857148 8q24.3 8 143869701C> T null E K 1160 1160 missense 0.0 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1227857148 8q24.3 8 143869701C> G null E Q 1160 1160 missense 0.033 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782512801 8q24.3 8 143869697G> A null T I 1161 1161 missense 0.005 benign 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1289048108 8q24.3 8 143869693C> G null K N 1162 1162 missense 0.12 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660465 8q24.3 8 143869686C> T null A T 1165 1165 missense 0.037 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781909751 8q24.3 8 143869685G> A null A V 1165 1165 missense 0.037 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs888291739 8q24.3 8 143869683G> A null Q * 1166 1166 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1331257647 8q24.3 8 143869681C> G null Q H 1166 1166 missense 0.003 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660464 8q24.3 8 143869680C> T null A T 1167 1167 missense 0.011 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373587855 8q24.3 8 143869677G> A null R C 1168 1168 missense 0.001 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782467282 8q24.3 8 143869676C> T null R H 1168 1168 missense 0.0 benign 0.82 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782761073 8q24.3 8 143869674C> T null V I 1169 1169 missense 0.007 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782085554 8q24.3 8 143869664G> A null P L 1172 1172 missense 0.814 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660458 8q24.3 8 143869665G> A null P S 1172 1172 missense 0.578 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782763476 8q24.3 8 143869661C> T null G D 1173 1173 missense 0.59 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs943710756 8q24.3 8 143869662C> T null G S 1173 1173 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1415471546 8q24.3 8 143869658G> C null P R 1174 1174 missense 0.878 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs558373320 8q24.3 8 143869655C> T null R Q 1175 1175 2.0E-4 missense 0.071 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782015228 8q24.3 8 143869656G> A null R W 1175 1175 missense 0.917 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs868916161 8q24.3 8 143869653C> A null G C 1176 1176 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660449 8q24.3 8 143869652C> T null G D 1176 1176 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660448 8q24.3 8 143869650C> T null E K 1177 1177 missense 0.003 benign 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782047020 8q24.3 8 143869647C> T null V I 1178 1178 missense 0.006 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782047020 8q24.3 8 143869647C> A null V L 1178 1178 missense 0.017 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes rs543463698 8q24.3 8 143869643G> A null P L 1179 1179 2.0E-4 missense 0.668 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1226586422 8q24.3 8 143869641C> G null A P 1180 1180 missense 0.496 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1226586422 8q24.3 8 143869641C> T null A T 1180 1180 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs552867240 8q24.3 8 143869633C> T null W * 1182 1182 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660440 8q24.3 8 143869632G> C null L V 1183 1183 missense 0.158 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782335131 8q24.3 8 143869626C> A null D Y 1185 1185 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs782080698 8q24.3 8 143869623C> T null A T 1186 1186 missense 0.022 benign 0.34 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660436 8q24.3 8 143869622G> A null A V 1186 1186 missense 0.095 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201640637 8q24.3 8 143869620C> T null G S 1187 1187 missense 0.382 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200611144 8q24.3 8 143869616A> T null I N 1188 1188 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660429 8q24.3 8 143869614T> A null I F 1189 1189 missense 0.952 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782412026 8q24.3 8 143869613A> C null I S 1189 1189 missense 0.77 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1174784001 8q24.3 8 143869610G> T null T N 1190 1190 missense 0.031 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660426 8q24.3 8 143869608G> A null Q * 1191 1191 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782205205 8q24.3 8 143869607T> A null Q L 1191 1191 missense 0.006 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782205205 8q24.3 8 143869607T> G null Q P 1191 1191 missense 0.656 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660424 8q24.3 8 143869604T> A null E V 1192 1192 missense 0.439 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660422 8q24.3 8 143869601G> A null T I 1193 1193 missense 0.013 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781823803 8q24.3 8 143869598A> C null L R 1194 1194 missense 0.105 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782482768 8q24.3 8 143869599G> C null L V 1194 1194 missense 0.359 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660414 8q24.3 8 143869594C> A null E D 1195 1195 missense 0.059 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660418 8q24.3 8 143869596C> T null E K 1195 1195 missense 0.003 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660412 8q24.3 8 143869587C> T null A T 1198 1198 missense 0.121 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1414192312 8q24.3 8 143869584G> C null Q E 1199 1199 missense 0.006 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660411 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869580C> T null G D 1200 1200 missense 0.476 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199619001 8q24.3 8 143869577G> A null T M 1201 1201 0.001198 missense 0.035 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1308876916 8q24.3 8 143869578T> A null T S 1201 1201 missense 0.007 benign 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1408148108 8q24.3 8 143869574T> C null Q R 1202 1202 missense 0.003 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1307464102 8q24.3 8 143869571G> A null S L 1203 1203 missense 0.007 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782794043 8q24.3 8 143869572A> G null S P 1203 1203 missense 0.571 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1437133532 8q24.3 8 143869568G> T null P H 1204 1204 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1437133532 8q24.3 8 143869568G> A null P L 1204 1204 missense 0.083 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782752879 8q24.3 8 143869566C> T null A T 1205 1205 missense 0.005 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782073715 8q24.3 8 143869563G> A null Q * 1206 1206 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1274992089 8q24.3 8 143869562T> G null Q P 1206 1206 missense 0.145 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs781992419 8q24.3 8 143869560C> T null V I 1207 1207 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149888978 8q24.3 8 143869557C> T null A T 1208 1208 0.002196 missense 0.406 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs782782070 8q24.3 8 143869554C> T null E K 1209 1209 missense 0.007 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660386 8q24.3 8 143869550T> G null Q P 1210 1210 missense 0.466 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782314559 8q24.3 8 143869547G> A null P L 1211 1211 missense 0.948 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs375330793 8q24.3 8 143869544G> A null A V 1212 1212 missense 0.005 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660382 8q24.3 8 143869537C> A null K N 1214 1214 missense 0.116 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782240124 8q24.3 8 143869536C> A null A S 1215 1215 missense 0.059 benign 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs868921516 8q24.3 8 143869535G> A null A V 1215 1215 missense 0.005 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782690379 8q24.3 8 143869532C> A null C F 1216 1216 missense 0.005 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1168142834 8q24.3 8 143869520G> T null T K 1220 1220 missense 0.391 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,TOPMed,gnomAD rs531805402 8q24.3 8 143869514C> A null C F 1222 1222 2.0E-4 missense 0.748 possibly damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,TOPMed,gnomAD rs531805402 8q24.3 8 143869514C> G null C S 1222 1222 2.0E-4 missense 0.015 benign 0.83 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,TOPMed,gnomAD rs531805402 8q24.3 8 143869514C> T null C Y 1222 1222 2.0E-4 missense 0.814 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782482957 8q24.3 8 143869511A> G null V A 1223 1223 missense 0.068 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782562924 8q24.3 8 143869512C> A null V L 1223 1223 missense 0.069 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782562924 8q24.3 8 143869512C> T null V M 1223 1223 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1356449161 8q24.3 8 143869505C> T null G D 1225 1225 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373814278 8q24.3 8 143869506C> T null G S 1225 1225 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1356449161 8q24.3 8 143869505C> A null G V 1225 1225 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660366 8q24.3 8 143869502A> G null V A 1226 1226 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781893744 8q24.3 8 143869503C> T null V M 1226 1226 missense 0.988 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782719924 8q24.3 8 143869500G> T null L M 1227 1227 missense 0.814 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782058123 8q24.3 8 143869499A> T null L Q 1227 1227 missense 0.11 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782058123 8q24.3 8 143869499A> C null L R 1227 1227 missense 0.037 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660363 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 8q24.3 8 143869494G> A null Q * 1229 1229 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1468402863 8q24.3 8 143869490G> A null P L 1230 1230 missense 0.858 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs548952557 8q24.3 8 143869491G> A null P S 1230 1230 3.99E-4 missense 0.085 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs548952557 8q24.3 8 143869491G> T null P T 1230 1230 3.99E-4 missense 0.66 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782130138 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869487G> A null S F 1231 1231 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782130138 8q24.3 8 143869487G> T null S Y 1231 1231 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs370136591 8q24.3 8 143869485C> G null G R 1232 1232 missense 0.018 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs370136591 8q24.3 8 143869485C> A null G W 1232 1232 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782270058 8q24.3 8 143869476C> T null A T 1235 1235 missense 0.006 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116243555 8q24.3 8 143869475G> A null A V 1235 1235 0.01038 missense 0.0 benign 0.43 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782309718 8q24.3 8 143869473T> G null S R 1236 1236 missense 0.892 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs561682200 8q24.3 8 143869466G> C null A G 1238 1238 2.0E-4 missense 0.058 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1392265590 8q24.3 8 143869467C> T null A T 1238 1238 missense 0.009 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs561682200 8q24.3 8 143869466G> A null A V 1238 1238 2.0E-4 missense 0.058 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660356 8q24.3 8 143869464G> A null Q * 1239 1239 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1321100052 8q24.3 8 143869463T> C null Q R 1239 1239 missense 0.006 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782296626 8q24.3 8 143869460G> T null A D 1240 1240 missense 0.849 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1340698021 8q24.3 8 143869457A> G null V A 1241 1241 missense 0.0 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs375839328 8q24.3 8 143869458C> A null V L 1241 1241 missense 0.003 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs375839328 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869458C> T null V M 1241 1241 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782748139 8q24.3 8 143869454C> T null R K 1242 1242 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660349 8q24.3 8 143869451T> C null D G 1243 1243 missense 0.199 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs533369972 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869452C> T null D N 1243 1243 2.0E-4 missense 0.349 benign 0.64 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs533369972 8q24.3 8 143869452C> A null D Y 1243 1243 2.0E-4 missense 0.838 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs907949179 8q24.3 8 143869448C> T null G D 1244 1244 missense 0.74 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs907949179 8q24.3 8 143869448C> A null G V 1244 1244 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660344 8q24.3 8 143869446G> A null L F 1245 1245 missense 0.911 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781874216 8q24.3 8 143869445A> C null L R 1245 1245 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660338 8q24.3 8 143869437T> C null T A 1248 1248 missense 0.0 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1246401550 8q24.3 8 143869436G> C null T R 1248 1248 missense 0.0 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs563064000 8q24.3 8 143869425G> A null Q * 1252 1252 9.98E-4 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782159472 8q24.3 8 143869424T> C null Q R 1252 1252 missense 0.003 benign 0.85 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782012271 8q24.3 8 143869421C> T null R K 1253 1253 missense 0.007 benign 0.34 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782728262 8q24.3 8 143869416G> C null L V 1255 1255 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781959347 8q24.3 8 143869409G> T null A D 1257 1257 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781959347 8q24.3 8 143869409G> C null A G 1257 1257 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781959347 8q24.3 8 143869409G> A null A V 1257 1257 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1026929023 8q24.3 8 143869395C> A null G C 1262 1262 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782335306 8q24.3 8 143869390G> T null F L 1263 1263 missense 0.058 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660331 8q24.3 8 143869389G> A null L F 1264 1264 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660330 8q24.3 8 143869385A> G null V A 1265 1265 missense 0.34 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660327 8q24.3 8 143869381G> C null D E 1266 1266 missense 0.783 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs782040377 8q24.3 8 143869382T> C null D G 1266 1266 missense 0.191 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs375599454 8q24.3 8 143869383C> T null D N 1266 1266 missense 0.119 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781976286 8q24.3 8 143869380G> A null P S 1267 1267 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660324 8q24.3 8 143869372G> T null N K 1269 1269 missense 0.009 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782406577 8q24.3 8 143869371T> C null N D 1270 1270 missense 0.935 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782198397 8q24.3 8 143869370T> C null N S 1270 1270 missense 0.432 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782198397 8q24.3 8 143869370T> G null N T 1270 1270 missense 0.554 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1417283010 8q24.3 8 143869364C> G null R T 1272 1272 missense 0.544 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660317 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869358G> A null S L 1274 1274 missense 0.787 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660316 8q24.3 8 143869355A> G null V A 1275 1275 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1007980322 8q24.3 8 143869356C> A null V L 1275 1275 missense 0.959 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782254950 8q24.3 8 143869396_143869397insCTGACAGTCTCTGGTTGTTCAGGGGGTCAACAAGGAAGCC A null E A 1276 1276 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1030744181 8q24.3 8 143869353C> T null E K 1276 1276 missense 0.372 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377549667 8q24.3 8 143869348G> C null D E 1277 1277 7.99E-4 missense 0.003 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs576066051 8q24.3 8 143869349T> C null D G 1277 1277 2.0E-4 missense 0.003 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782649866 8q24.3 8 143869350C> T null D N 1277 1277 missense 0.007 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373412301 8q24.3 8 143869347C> T null A T 1278 1278 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376972839 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869346G> A null A V 1278 1278 2.0E-4 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782197111 8q24.3 8 143869335C> G null G R 1282 1282 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782197111 8q24.3 8 143869335C> T null G S 1282 1282 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1238840115 8q24.3 8 143869328A> C null V G 1284 1284 missense 0.097 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660304 8q24.3 8 143869329C> T null V M 1284 1284 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1256973493 8q24.3 8 143869319T> G null E A 1287 1287 missense 0.011 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1484417048 8q24.3 8 143869317G> C null L V 1288 1288 missense 0.121 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782316655 8q24.3 8 143869314T> G null S R 1289 1289 missense 0.005 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1257001334 8q24.3 8 143869310T> C null E G 1290 1290 missense 0.843 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs940860228 8q24.3 8 143869308G> A null Q * 1291 1291 stop gained 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371866890 8q24.3 8 143869305G> A null L F 1292 1292 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782252062 8q24.3 8 143869302C> G null G R 1293 1293 missense 0.0 benign 0.85 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782252062 8q24.3 8 143869302C> T null G R 1293 1293 missense 0.0 benign 0.85 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs372795098 8q24.3 8 143869298T> A null Q L 1294 1294 2.0E-4 missense 0.003 benign 0.88 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs921902664 8q24.3 8 143869293C> T null E K 1296 1296 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1467329925 8q24.3 8 143869290T> C null R G 1297 1297 missense 0.025 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs374929678 8q24.3 8 143869286G> C null A G 1298 1298 missense 0.156 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563883520 8q24.3 8 143869287C> G null A P 1298 1298 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374929678 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869286G> A null A V 1298 1298 missense 0.23 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660290 8q24.3 8 143869284C> A null A S 1299 1299 missense 0.061 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367610078 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869283G> A null A V 1299 1299 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782720760 8q24.3 8 143869277C> T null G E 1301 1301 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199499630 8q24.3 8 143869278C> T null G R 1301 1301 3.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181084561 8q24.3 8 143869274T> C null Y C 1302 1302 0.001597 missense 0.031 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1023218114 8q24.3 8 143869271G> T null P Q 1303 1303 missense 0.076 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1314318135 8q24.3 8 143869269C> T null D N 1304 1304 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1231516384 8q24.3 8 143869268T> A null D V 1304 1304 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782729281 8q24.3 8 143869266G> C null P A 1305 1305 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660277 8q24.3 8 143869265G> A null P L 1305 1305 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660277 8q24.3 8 143869265G> C null P R 1305 1305 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs549013758 8q24.3 8 143869262T> C null Y C 1306 1306 2.0E-4 missense 0.021 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660274 8q24.3 8 143869259G> C null S C 1307 1307 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1554660273 8q24.3 8 143869256C> G null R T 1308 1308 missense 0.007 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782438041 8q24.3 8 143869253G> A null A V 1309 1309 missense 0.026 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660271 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869250G> A null S F 1310 1310 missense 0.075 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660268 8q24.3 8 143869237C> A null W C 1314 1314 missense 0.958 probably damaging 0.72 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660267 8q24.3 8 143869236G> A null Q * 1315 1315 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660262 8q24.3 8 143869225C> A null E D 1318 1318 missense 0.006 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660264 8q24.3 8 143869227C> T null E K 1318 1318 missense 0.019 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782231906 8q24.3 8 143869222C> G null K N 1319 1319 missense 0.787 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151228615 8q24.3 8 143869221C> T null G R 1320 1320 0.002995 missense 0.952 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660259 8q24.3 8 143869220C> A null G V 1320 1320 missense 0.976 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782379166 8q24.3 8 143869218G> A null L F 1321 1321 missense 0.593 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782234912 8q24.3 8 143869217A> G null L P 1321 1321 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1430025742 8q24.3 8 143869214A> T null V E 1322 1322 missense 0.012 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370944860 8q24.3 8 143869215C> G null V L 1322 1322 2.0E-4 missense 0.053 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370944860 8q24.3 8 143869215C> T null V M 1322 1322 2.0E-4 missense 0.055 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660255 8q24.3 8 143869212G> A null P S 1323 1323 missense 0.018 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1170049660 8q24.3 8 143869209G> A null Q * 1324 1324 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782626827 8q24.3 8 143869206T> G null N H 1325 1325 missense 0.264 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs533647458 8q24.3 8 143869204G> C null N K 1325 1325 0.001198 missense 0.028 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377567910 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869203C> T null E K 1326 1326 missense 0.287 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1439218522 8q24.3 8 143869199C> G null G A 1327 1327 missense 0.136 benign 0.71 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1370361749 8q24.3 8 143869200C> T null G S 1327 1327 missense 0.83 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1439218522 8q24.3 8 143869199C> A null G V 1327 1327 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781889536 8q24.3 8 143869183C> A null Q H 1332 1332 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782547917 8q24.3 8 143869184T> G null Q P 1332 1332 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782703866 8q24.3 8 143869182C> T null V M 1333 1333 missense 0.8 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1272670691 8q24.3 8 143869179G> C null Q E 1334 1334 missense 0.802 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1272670691 8q24.3 8 143869179G> T null Q K 1334 1334 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs566768696 8q24.3 8 143869173C> A null A S 1336 1336 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs566768696 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869173C> T null A T 1336 1336 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782269259 8q24.3 8 143869166C> T null G E 1338 1338 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782269259 8q24.3 8 143869166C> A null G V 1338 1338 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660249 8q24.3 8 143869164C> T null G S 1339 1339 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563883349 8q24.3 8 143869163C> A null G V 1339 1339 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781924435 8q24.3 8 143869161C> T null V M 1340 1340 missense 0.078 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1252176868 8q24.3 8 143869146G> C null H D 1345 1345 missense 0.308 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1252176868 8q24.3 8 143869146G> A null H Y 1345 1345 missense 0.009 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660244 8q24.3 8 143869142C> T null G E 1346 1346 missense 0.242 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376905444 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869143C> T null G R 1346 1346 missense 0.017 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376905444 8q24.3 8 143869143C> G null G R 1346 1346 missense 0.017 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782291744 8q24.3 8 143869131G> A null P S 1350 1350 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782660781 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869127T> A null Q L 1351 1351 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782660781 8q24.3 8 143869127T> C null Q R 1351 1351 missense 0.003 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660239 8q24.3 8 143869125C> A null A S 1352 1352 missense 0.085 benign 0.62 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372573971 8q24.3 8 143869124G> A null A V 1352 1352 2.0E-4 missense 0.007 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782472201 8q24.3 8 143869115C> G null C S 1355 1355 missense 0.083 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782472201 8q24.3 8 143869115C> T null C Y 1355 1355 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1325777018 8q24.3 8 143869113T> C null R G 1356 1356 missense 0.163 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782159217 8q24.3 8 143869111T> G null R S 1356 1356 missense 0.031 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782159217 8q24.3 8 143869111T> A null R S 1356 1356 missense 0.031 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781870000 8q24.3 8 143869112C> G null R T 1356 1356 missense 0.163 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1268700538 8q24.3 8 143869106C> T null G D 1358 1358 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs369407744 8q24.3 8 143869107C> G null G R 1358 1358 missense 0.722 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs369407744 8q24.3 8 143869107C> T null G S 1358 1358 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781958201 8q24.3 8 143869103A> G null L P 1359 1359 missense 0.814 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660219 8q24.3 8 143869101G> C null L V 1360 1360 missense 0.013 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782397402 8q24.3 8 143869097T> A null D V 1361 1361 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660214 8q24.3 8 143869091T> A null Q L 1363 1363 missense 0.058 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1361492526 8q24.3 8 143869088G> A null T M 1364 1364 missense 0.003 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs372872054 8q24.3 8 143869084G> C null S R 1365 1365 missense 0.055 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782038418 8q24.3 8 143869083G> A null Q * 1366 1366 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660209 8q24.3 8 143869079A> C null V G 1367 1367 missense 0.086 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660211 8q24.3 8 143869080C> T null V M 1367 1367 missense 0.022 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782352222 8q24.3 8 143869067A> G null V A 1371 1371 missense 0.0 benign 0.82 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660207 8q24.3 8 143869068C> A null V F 1371 1371 missense 0.076 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660207 8q24.3 8 143869068C> T null V I 1371 1371 missense 0.001 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782208855 8q24.3 8 143869061T> C null K R 1373 1373 missense 0.037 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs199809449 8q24.3 8 143869057G> C null D E 1374 1374 missense 0.09 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs369246739 8q24.3 8 143869058T> C null D G 1374 1374 missense 0.09 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139952490 8q24.3 8 143869055T> C null N S 1375 1375 0.008187 missense 0.0 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782661696 8q24.3 8 143869049A> C null F C 1377 1377 missense 0.006 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1415373590 8q24.3 8 143869050A> T null F I 1377 1377 missense 0.067 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563883201 8q24.3 8 143869044A> G null F L 1379 1379 missense 0.922 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782462121 8q24.3 8 143869039G> T null D E 1380 1380 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781840845 8q24.3 8 143869038G> T null P T 1381 1381 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782134026 8q24.3 8 143869035T> C null S G 1382 1382 missense 0.006 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368940625 8q24.3 8 143869031G> C null A G 1383 1383 missense 0.103 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660200 8q24.3 8 143869032C> T null A T 1383 1383 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368940625 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143869031G> A null A V 1383 1383 missense 0.062 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74777588 8q24.3 8 143869028C> T null R Q 1384 1384 0.003195 missense 0.001 benign 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs560164765 8q24.3 8 143869029G> A null R W 1384 1384 2.0E-4 missense 0.629 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782093907 8q24.3 8 143869026C> T null D N 1385 1385 missense 0.018 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660194 8q24.3 8 143869020C> T null V M 1387 1387 missense 0.948 probably damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs944706903 8q24.3 8 143869016G> A null T I 1388 1388 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660193 8q24.3 8 143869017T> G null T P 1388 1388 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782391811 8q24.3 8 143869014A> T null Y N 1389 1389 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201746735 8q24.3 8 143869011G> A null Q * 1390 1390 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782195229 8q24.3 8 143868999C> T null E K 1394 1394 missense 0.536 possibly damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376120694 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868996G> A null R C 1395 1395 missense 0.097 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372980887 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868995C> T null R H 1395 1395 missense 0.157 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1281916795 8q24.3 8 143868992C> T null C Y 1396 1396 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660182 8q24.3 8 143868989A> T null V E 1397 1397 missense 0.051 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782564343 8q24.3 8 143868990C> T null V M 1397 1397 missense 0.236 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1554660181 8q24.3 8 143868987A> T null C S 1398 1398 missense 0.0 benign 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781839543 8q24.3 8 143868982G> C null D E 1399 1399 missense 0.999 probably damaging 0.34 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs557231803 8q24.3 8 143868984C> T null D N 1399 1399 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs946538843 8q24.3 8 143868980G> A null S F 1400 1400 missense 0.264 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782125817 8q24.3 8 143868978C> T null E K 1401 1401 missense 0.062 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376369201 8q24.3 8 143868972C> T null G R 1403 1403 2.0E-4 missense 0.519 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781931068 8q24.3 8 143868967C> A null L F 1404 1404 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782142882 8q24.3 8 143868968A> G null L S 1404 1404 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782309114 8q24.3 8 143868962A> T null L Q 1406 1406 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782309114 8q24.3 8 143868962A> C null L R 1406 1406 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660168 8q24.3 8 143868956G> A null P L 1408 1408 missense 0.018 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782009605 8q24.3 8 143868950G> A null P L 1410 1410 missense 0.178 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660166 8q24.3 8 143868951G> A null P S 1410 1410 missense 0.011 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1178575753 8q24.3 8 143868945C> T null D N 1412 1412 missense 0.219 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782386274 8q24.3 8 143868942T> G null T P 1413 1413 missense 0.095 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115967324 8q24.3 8 143868941G> C null T R 1413 1413 0.003594 missense 0.001 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782674965 8q24.3 8 143868933C> T null E K 1416 1416 missense 0.018 benign 0.89 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782674965 8q24.3 8 143868933C> G null E Q 1416 1416 missense 0.049 benign 0.62 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782448561 8q24.3 8 143868930C> T null V M 1417 1417 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782295975 8q24.3 8 143868925G> C null D E 1418 1418 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782622776 8q24.3 8 143868924C> T null D N 1419 1419 missense 0.003 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660153 8q24.3 8 143868921G> C null H D 1420 1420 missense 0.719 possibly damaging 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660150 8q24.3 8 143868920T> C null H R 1420 1420 missense 0.488 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs370183040 8q24.3 8 143868915C> G null A P 1422 1422 missense 0.789 possibly damaging 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs370183040 8q24.3 8 143868915C> A null A S 1422 1422 missense 0.287 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs370183040 8q24.3 8 143868915C> T null A T 1422 1422 missense 0.012 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376456375 8q24.3 8 143868914G> A null A V 1422 1422 missense 0.082 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373343321 8q24.3 8 143868912C> T null V M 1423 1423 missense 0.052 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660144 8q24.3 8 143868905A> G null L P 1425 1425 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660142 8q24.3 8 143868902C> T null R K 1426 1426 missense 0.018 benign 0.86 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781968244 8q24.3 8 143868900C> A null A S 1427 1427 missense 0.146 benign 0.84 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781968244 8q24.3 8 143868900C> T null A T 1427 1427 missense 0.716 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs900655002 8q24.3 8 143868896A> G null M T 1428 1428 missense 0.019 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782783187 8q24.3 8 143868897T> C null M V 1428 1428 missense 0.229 benign 0.85 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782124270 8q24.3 8 143868894T> C null K E 1429 1429 missense 0.033 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563882954 8q24.3 8 143868893T> G null K T 1429 1429 missense 0.007 benign 0.78 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs370790593 8q24.3 8 143868890A> G null V A 1430 1430 missense 0.492 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781922344 8q24.3 8 143868885C> A null V F 1432 1432 missense 0.801 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781922344 8q24.3 8 143868885C> T null V I 1432 1432 missense 0.014 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs538042034 8q24.3 8 143868878G> A null T I 1434 1434 2.0E-4 missense 0.031 benign 0.79 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660125 8q24.3 8 143868872C> T null R K 1436 1436 missense 0.12 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs376296129 8q24.3 8 143868866T> A null K M 1438 1438 missense 0.799 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs376296129 8q24.3 8 143868866T> C null K R 1438 1438 missense 0.009 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782648760 8q24.3 8 143868864C> T null G R 1439 1439 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660122 8q24.3 8 143868858T> A null S C 1441 1441 missense 0.613 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1305384442 8q24.3 8 143868857C> T null S N 1441 1441 missense 0.0 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs193109542 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868855C> T null V M 1442 1442 0.002196 missense 0.888 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782667154 8q24.3 8 143868851G> A null S L 1443 1443 missense 0.755 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781785956 8q24.3 8 143868849G> A null L F 1444 1444 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1340931359 8q24.3 8 143868848A> G null L P 1444 1444 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1193564119 8q24.3 8 143868844C> A null W C 1445 1445 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660114 8q24.3 8 143868843C> T null D N 1446 1446 missense 0.629 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs541687733 8q24.3 8 143868840G> T null L M 1447 1447 9.98E-4 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660111 8q24.3 8 143868839A> T null L Q 1447 1447 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373092735 8q24.3 8 143868830G> C null S C 1450 1450 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373092735 8q24.3 8 143868830G> T null S Y 1450 1450 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782101178 8q24.3 8 143868828C> T null E K 1451 1451 missense 0.127 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660106 8q24.3 8 143868825A> T null Y N 1452 1452 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660105 8q24.3 8 143868821A> G null V A 1453 1453 missense 0.385 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs201602383 8q24.3 8 143868822C> T null V I 1453 1453 missense 0.014 benign 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660103 8q24.3 8 143868819C> T null G S 1454 1454 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377277154 8q24.3 8 143868816C> A null A S 1455 1455 5.99E-4 missense 0.022 benign 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377277154 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868816C> T null A T 1455 1455 5.99E-4 missense 0.131 benign 0.51 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782205400 8q24.3 8 143868810T> G null K Q 1457 1457 missense 0.22 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs551340158 8q24.3 8 143868809T> C null K R 1457 1457 2.0E-4 missense 0.139 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372624077 8q24.3 8 143868806C> T null R Q 1458 1458 missense 0.492 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs201982226 8q24.3 8 143868807G> A null R W 1458 1458 3.99E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs367640883 8q24.3 8 143868804G> C null R G 1459 1459 missense 0.616 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782760991 8q24.3 8 143868803C> T null R Q 1459 1459 missense 0.017 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs367640883 8q24.3 8 143868804G> A null R W 1459 1459 missense 0.862 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1269106451 8q24.3 8 143868799C> G null E D 1460 1460 missense 0.435 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660093 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868801C> T null E K 1460 1460 missense 0.974 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660092 8q24.3 8 143868794A> G null V A 1462 1462 missense 0.003 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782727181 8q24.3 8 143868795C> T null V M 1462 1462 missense 0.592 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs983173970 8q24.3 8 143868791G> A null A V 1463 1463 missense 0.003 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660089 8q24.3 8 143868789G> A null L F 1464 1464 missense 0.952 probably damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1235686220 8q24.3 8 143868786A> T null C S 1465 1465 missense 0.255 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782125308 8q24.3 8 143868783G> C null R G 1466 1466 missense 0.003 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs781847075 8q24.3 8 143868782C> A null R L 1466 1466 missense 0.006 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs781847075 8q24.3 8 143868782C> T null R Q 1466 1466 missense 0.0 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782125308 8q24.3 8 143868783G> A null R W 1466 1466 missense 0.533 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660082 8q24.3 8 143868776C> T null G E 1468 1468 missense 0.997 probably damaging 0.76 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782805448 8q24.3 8 143868773C> T null R K 1469 1469 missense 0.09 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660079 8q24.3 8 143868771C> G null A P 1470 1470 missense 0.914 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782143817 8q24.3 8 143868767G> A null A V 1471 1471 missense 0.242 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs964881215 8q24.3 8 143868764G> T null A D 1472 1472 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs964881215 8q24.3 8 143868764G> C null A G 1472 1472 missense 0.996 probably damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660078 8q24.3 8 143868761A> G null L P 1473 1473 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782309931 8q24.3 8 143868762G> C null L V 1473 1473 missense 0.726 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1017745299 8q24.3 8 143868758C> T null R Q 1474 1474 missense 0.171 benign 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782093131 8q24.3 8 143868759G> A null R W 1474 1474 missense 0.981 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs781951311 8q24.3 8 143868752A> C null V G 1476 1476 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660068 8q24.3 8 143868753C> T null V M 1476 1476 missense 0.392 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146005478 8q24.3 8 143868744C> T null A T 1479 1479 7.99E-4 missense 0.001 benign 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660063 8q24.3 8 143868741C> T null V I 1480 1480 missense 0.006 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660060 8q24.3 8 143868738T> G null T P 1481 1481 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs6558399 8q24.3 8 143868735T> C null T A 1482 1482 0.3147 missense 0.0 benign 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660058 8q24.3 8 143868734G> T null T N 1482 1482 missense 0.084 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782623089 8q24.3 8 143868731A> G null L P 1483 1483 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563882689 8q24.3 8 143868728A> T null V D 1484 1484 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782637254 8q24.3 8 143868726C> A null E * 1485 1485 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782537971 8q24.3 8 143868724C> G null E D 1485 1485 missense 0.461 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782637254 8q24.3 8 143868726C> T null E K 1485 1485 missense 0.039 benign 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1257108270 8q24.3 8 143868722G> C null A G 1486 1486 missense 0.033 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660051 8q24.3 8 143868720C> T null A T 1487 1487 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781881083 8q24.3 8 143868717C> T null E K 1488 1488 missense 0.647 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1255377415 8q24.3 8 143868713C> T null R K 1489 1489 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368146843 8q24.3 8 143868705G> T null L M 1492 1492 2.0E-4 missense 0.195 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660040 8q24.3 8 143868702G> A null Q * 1493 1493 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782051022 8q24.3 8 143868699C> T null A T 1494 1494 missense 0.02 benign 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660038 8q24.3 8 143868698G> A null A V 1494 1494 missense 0.006 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1365331385 8q24.3 8 143868696T> C null T A 1495 1495 missense 0.012 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660036 8q24.3 8 143868695G> A null T I 1495 1495 missense 0.051 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660036 8q24.3 8 143868695G> T null T N 1495 1495 missense 0.09 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781841573 8q24.3 8 143868693A> G null F L 1496 1496 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782728846 8q24.3 8 143868692A> G null F S 1496 1496 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782125557 8q24.3 8 143868690T> C null R G 1497 1497 missense 0.114 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660032 8q24.3 8 143868684G> A null L F 1499 1499 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373861393 8q24.3 8 143868681G> C null R G 1500 1500 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782810532 8q24.3 8 143868680C> T null R Q 1500 1500 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373861393 8q24.3 8 143868681G> A null R W 1500 1500 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660027 8q24.3 8 143868677T> C null K R 1501 1501 missense 0.221 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782064600 8q24.3 8 143868675G> C null Q E 1502 1502 missense 0.006 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1054923745 8q24.3 8 143868672C> G null V L 1503 1503 missense 0.034 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1054923745 8q24.3 8 143868672C> A null V L 1503 1503 missense 0.034 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1054923745 8q24.3 8 143868672C> T null V M 1503 1503 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1410976837 8q24.3 8 143868668G> C null S * 1504 1504 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660025 8q24.3 8 143868669A> C null S A 1504 1504 missense 0.716 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1410976837 8q24.3 8 143868668G> A null S L 1504 1504 missense 0.898 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660022 8q24.3 8 143868663T> C null R G 1506 1506 missense 0.0 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660020 8q24.3 8 143868662C> T null R K 1506 1506 missense 0.023 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660017 8q24.3 8 143868661C> G null R S 1506 1506 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660015 8q24.3 8 143868658G> T null D E 1507 1507 missense 0.141 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs190800981 8q24.3 8 143868660C> A null D Y 1507 1507 3.99E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs927766632 8q24.3 8 143868657G> T null L M 1508 1508 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1238773042 8q24.3 8 143868656A> C null L R 1508 1508 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1350291766 8q24.3 8 143868654A> G null F L 1509 1509 missense 0.028 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782009256 8q24.3 8 143868651T> C null R G 1510 1510 missense 0.342 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782364262 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868647G> A null A V 1511 1511 missense 0.09 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs781892821 8q24.3 8 143868637G> C null I M 1514 1514 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782458222 8q24.3 8 143868635C> T null S N 1515 1515 missense 0.0 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142520085 8q24.3 8 143868628C> A null K N 1517 1517 0.001997 missense 0.07 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373737061 8q24.3 8 143868626G> A null T M 1518 1518 9.98E-4 missense 0.943 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185538739 8q24.3 8 143868619G> C null D E 1520 1520 0.001597 missense 0.051 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs191532254 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868618C> T null E K 1521 1521 5.99E-4 missense 0.345 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs191532254 8q24.3 8 143868618C> G null E Q 1521 1521 5.99E-4 missense 0.144 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs557769989 8q24.3 8 143868614A> G null L P 1522 1522 3.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660006 8q24.3 8 143868609G> T null Q K 1524 1524 missense 0.003 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs868984315 8q24.3 8 143868605C> G null G A 1525 1525 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs868984315 8q24.3 8 143868605C> T null G E 1525 1525 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782032010 8q24.3 8 143868599G> A null T M 1527 1527 missense 0.001 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1343040770 8q24.3 8 143868593A> G null V A 1529 1529 missense 0.11 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563882454 8q24.3 8 143868588C> T null E K 1531 1531 missense 0.792 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782186468 8q24.3 8 143868585C> T null V M 1532 1532 missense 0.872 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781910932 8q24.3 8 143868582C> T null A T 1533 1533 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs782354255 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868581G> A null A V 1533 1533 missense 0.062 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372780923 8q24.3 8 143868577C> G null E D 1534 1534 missense 0.062 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782500204 8q24.3 8 143868576T> C null M V 1535 1535 missense 0.079 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563882426 8q24.3 8 143868571G> T null D E 1536 1536 missense 0.013 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs569107828 8q24.3 8 143868572T> C null D G 1536 1536 2.0E-4 missense 0.013 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554660001 8q24.3 8 143868569C> T null S N 1537 1537 missense 0.399 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782451931 8q24.3 8 143868567C> T null V M 1538 1538 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368863995 8q24.3 8 143868560C> T null R Q 1540 1540 3.99E-4 missense 0.0 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781838496 8q24.3 8 143868561G> A null R W 1540 1540 missense 0.401 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782526891 8q24.3 8 143868557G> A null S F 1541 1541 missense 0.0 benign 0.41 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs782104048 8q24.3 8 143868558A> G null S P 1541 1541 missense 0.173 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659996 8q24.3 8 143868554A> G null L P 1542 1542 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201781964 8q24.3 8 143868550C> A null E D 1543 1543 missense 0.819 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659993 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868549C> T null G R 1544 1544 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659990 8q24.3 8 143868545C> G null G A 1545 1545 missense 0.033 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659990 8q24.3 8 143868545C> T null G D 1545 1545 missense 0.498 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659992 8q24.3 8 143868546C> G null G R 1545 1545 missense 0.458 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781803355 8q24.3 8 143868542T> C null N S 1546 1546 missense 0.041 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659985 8q24.3 8 143868540A> G null F L 1547 1547 missense 0.012 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs370108979 8q24.3 8 143868537T> C null I V 1548 1548 missense 0.22 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375831338 8q24.3 8 143868534C> G null A P 1549 1549 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659982 8q24.3 8 143868533G> A null A V 1549 1549 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659979 8q24.3 8 143868530C> G null G A 1550 1550 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782114813 8q24.3 8 143868531C> G null G R 1550 1550 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782114813 8q24.3 8 143868531C> T null G R 1550 1550 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782020246 8q24.3 8 143868528C> A null V F 1551 1551 missense 0.868 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782627172 8q24.3 8 143868518T> C null Q R 1554 1554 missense 0.021 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368225830 8q24.3 8 143868515C> T null G D 1555 1555 missense 0.006 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659969 8q24.3 8 143868516C> T null G S 1555 1555 missense 0.011 benign 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659968 8q24.3 8 143868512G> A null T I 1556 1556 missense 0.118 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782559181 8q24.3 8 143868503C> T null R K 1559 1559 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782559181 8q24.3 8 143868503C> A null R M 1559 1559 missense 0.562 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782559181 8q24.3 8 143868503C> G null R T 1559 1559 missense 0.003 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl,NCI-TCGA rs111431754 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868499C> A null M I 1560 1560 missense 0.225 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659962 8q24.3 8 143868498T> C null S G 1561 1561 missense 0.229 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782432341 8q24.3 8 143868491G> A null P L 1563 1563 missense 0.037 benign 0.52 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782581659 8q24.3 8 143868492G> A null P S 1563 1563 missense 0.0 benign 0.52 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659957 8q24.3 8 143868487C> A null E D 1564 1564 missense 0.015 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781830503 8q24.3 8 143868489C> T null E K 1564 1564 missense 0.558 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1416774851 8q24.3 8 143868488T> A null E V 1564 1564 missense 0.845 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659955 8q24.3 8 143868485G> T null A D 1565 1565 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782742738 8q24.3 8 143868486C> T null A T 1565 1565 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1166366839 8q24.3 8 143868483G> C null L V 1566 1566 missense 0.436 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs566572612 8q24.3 8 143868480T> C null R G 1567 1567 7.99E-4 missense 0.011 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563882279 8q24.3 8 143868479C> T null R K 1567 1567 missense 0.033 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659952 8q24.3 8 143868471T> A null I F 1570 1570 missense 0.408 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782071034 8q24.3 8 143868470A> G null I T 1570 1570 missense 0.295 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs182729035 8q24.3 8 143868467A> C null L R 1571 1571 0.0 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs532952345 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868464C> T null R Q 1572 1572 2.0E-4 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376180791 8q24.3 8 143868465G> A null R W 1572 1572 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1361430722 8q24.3 8 143868458C> G null G A 1574 1574 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782384260 8q24.3 8 143868455G> A null T I 1575 1575 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563882225 8q24.3 8 143868446A> G null V A 1578 1578 missense 0.92 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782325076 8q24.3 8 143868438C> G null E Q 1581 1581 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782176868 8q24.3 8 143868435C> T null A T 1582 1582 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659941 8q24.3 8 143868434G> A null A V 1582 1582 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659939 8q24.3 8 143868432G> A null Q * 1583 1583 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs988104020 8q24.3 8 143868426C> G null A P 1585 1585 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs988104020 8q24.3 8 143868426C> T null A T 1585 1585 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs544519274 8q24.3 8 143868420C> T null G S 1587 1587 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659935 8q24.3 8 143868414T> C null I V 1589 1589 missense 0.003 benign 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782562143 8q24.3 8 143868411T> A null I F 1590 1590 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781810446 8q24.3 8 143868410A> T null I N 1590 1590 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781810446 8q24.3 8 143868410A> G null I T 1590 1590 missense 0.943 probably damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782562143 8q24.3 8 143868411T> C null I V 1590 1590 missense 0.203 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782787968 8q24.3 8 143868406G> T null D E 1591 1591 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371726560 8q24.3 8 143868408C> G null D H 1591 1591 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371726560 8q24.3 8 143868408C> T null D N 1591 1591 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed rs782119648 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868404G> A null P L 1592 1592 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659925 8q24.3 8 143868405G> T null P T 1592 1592 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201170631 8q24.3 8 143868402C> T null V M 1593 1593 3.99E-4 missense 0.121 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782353672 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868392C> T null R Q 1596 1596 missense 0.007 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373864197 8q24.3 8 143868393G> A null R W 1596 1596 missense 0.736 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782003091 8q24.3 8 143868390T> G null K Q 1597 1597 missense 0.9 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs540029263 8q24.3 8 143868381C> T null V M 1600 1600 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1435468417 8q24.3 8 143868374T> G null E A 1602 1602 missense 0.627 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1353597179 8q24.3 8 143868372C> G null A P 1603 1603 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1353597179 8q24.3 8 143868372C> T null A T 1603 1603 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782603702 8q24.3 8 143868371G> A null A V 1603 1603 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1373854729 8q24.3 8 143868365T> C null K R 1605 1605 missense 0.015 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659910 8q24.3 8 143868362G> T null A E 1606 1606 missense 0.013 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781866214 8q24.3 8 143868363C> T null A T 1606 1606 missense 0.306 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1281760594 8q24.3 8 143868360C> G null G R 1607 1607 missense 0.939 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659907 8q24.3 8 143868359C> A null G V 1607 1607 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781802200 8q24.3 8 143868355C> A null M I 1608 1608 missense 0.022 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782552852 8q24.3 8 143868356A> G null M T 1608 1608 missense 0.236 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659905 8q24.3 8 143868357T> C null M V 1608 1608 missense 0.006 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs199851232 8q24.3 8 143868354A> G null F L 1609 1609 missense 0.08 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1187480311 8q24.3 8 143868350C> T null G E 1610 1610 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs545933698 8q24.3 8 143868351C> G null G R 1610 1610 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs545933698 8q24.3 8 143868351C> T null G R 1610 1610 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1037437050 8q24.3 8 143868348T> C null K E 1611 1611 missense 0.009 benign 0.75 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs575607968 8q24.3 8 143868347T> C null K R 1611 1611 2.0E-4 missense 0.003 benign 0.75 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659893 8q24.3 8 143868345C> T null E K 1612 1612 missense 0.731 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782033744 8q24.3 8 143868337G> C null Y * 1614 1614 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659891 8q24.3 8 143868338T> C null Y C 1614 1614 missense 0.025 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371266024 8q24.3 8 143868336C> T null V M 1615 1615 missense 0.006 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782259204 8q24.3 8 143868323G> A null S L 1619 1619 missense 0.955 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs568762165 8q24.3 8 143868318C> T null E K 1621 1621 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375118468 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868315G> A null R C 1622 1622 2.0E-4 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375118468 8q24.3 8 143868315G> C null R G 1622 1622 2.0E-4 missense 0.946 probably damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs111830312 8q24.3 8 143868314C> T null R H 1622 1622 2.0E-4 missense 0.949 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375118468 8q24.3 8 143868315G> T null R S 1622 1622 2.0E-4 missense 0.928 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781853551 8q24.3 8 143868311G> T null A D 1623 1623 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370754670 8q24.3 8 143868312C> T null A T 1623 1623 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138137510 8q24.3 8 143868309C> T null V I 1624 1624 0.003594 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200748786 8q24.3 8 143868303C> T null G S 1626 1626 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782002736 8q24.3 8 143868299T> C null Y C 1627 1627 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782083987 8q24.3 8 143868300A> G null Y H 1627 1627 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782371088 8q24.3 8 143868297T> C null T A 1628 1628 missense 0.082 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs529189301 8q24.3 8 143868296G> A null T I 1628 1628 2.0E-4 missense 0.046 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs529189301 8q24.3 8 143868296G> T null T N 1628 1628 2.0E-4 missense 0.775 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782613983 8q24.3 8 143868292G> T null D E 1629 1629 missense 0.273 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs183490670 8q24.3 8 143868294C> G null D H 1629 1629 2.0E-4 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs183490670 8q24.3 8 143868294C> T null D N 1629 1629 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs183490670 8q24.3 8 143868294C> A null D Y 1629 1629 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1195790917 8q24.3 8 143868290G> A null P L 1630 1630 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs113548019 8q24.3 8 143868286A> T null Y * 1631 1631 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782333111 8q24.3 8 143868287T> C null Y C 1631 1631 missense 0.988 probably damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1026216116 8q24.3 8 143868288A> G null Y H 1631 1631 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1411621635 8q24.3 8 143868281C> T null G E 1633 1633 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782541714 8q24.3 8 143868282C> T null G R 1633 1633 missense 0.954 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781888072 8q24.3 8 143868279G> A null Q * 1634 1634 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1326695686 8q24.3 8 143868274C> G null Q H 1635 1635 missense 0.723 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1441353153 8q24.3 8 143868272A> T null I N 1636 1636 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782584561 8q24.3 8 143868270A> C null S A 1637 1637 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373351287 8q24.3 8 143868269G> A null S F 1637 1637 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659844 8q24.3 8 143868267G> C null L V 1638 1638 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782774316 8q24.3 8 143868261G> C null Q E 1640 1640 missense 0.048 benign 0.65 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659842 8q24.3 8 143868257G> A null A V 1641 1641 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659839 8q24.3 8 143868249T> G null K Q 1644 1644 missense 0.491 possibly damaging 0.74 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201641573 8q24.3 8 143868245T> C null D G 1645 1645 0.00639 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659835 8q24.3 8 143868246C> T null D N 1645 1645 missense 0.017 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201641573 8q24.3 8 143868245T> A null D V 1645 1645 0.00639 missense 0.577 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781929003 8q24.3 8 143868243G> A null L F 1646 1646 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781929003 8q24.3 8 143868243G> C null L V 1646 1646 missense 0.982 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs564091699 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868237C> T null V I 1648 1648 2.0E-4 missense 0.061 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs546299644 8q24.3 8 143868233C> T null R Q 1649 1649 2.0E-4 missense 0.729 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781997290 8q24.3 8 143868234G> A null R W 1649 1649 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782287716 8q24.3 8 143868229C> G null E D 1650 1650 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs200705479 8q24.3 8 143868225C> T null G S 1652 1652 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782182977 8q24.3 8 143868220G> C null I M 1653 1653 missense 0.244 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1451278327 8q24.3 8 143868222T> C null I V 1653 1653 missense 0.009 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199598193 8q24.3 8 143868219G> A null R C 1654 1654 9.98E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201157982 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868218C> T null R H 1654 1654 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659814 8q24.3 8 143868216G> C null L V 1655 1655 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1168521732 8q24.3 8 143868209T> C null E G 1657 1657 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782533658 8q24.3 8 143868199G> C null I M 1660 1660 missense 0.901 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782692620 8q24.3 8 143868200A> C null I S 1660 1660 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781808880 8q24.3 8 143868198C> A null A S 1661 1661 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781808880 8q24.3 8 143868198C> T null A T 1661 1661 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs558983192 8q24.3 8 143868195T> C null T A 1662 1662 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371322120 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868194G> A null T M 1662 1662 0.001198 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs542241940 8q24.3 8 143868192C> A null G C 1663 1663 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs111717556 8q24.3 8 143868191C> T null G D 1663 1663 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs111717556 8q24.3 8 143868191C> A null G V 1663 1663 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs879994655 8q24.3 8 143868188C> T null G D 1664 1664 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659803 8q24.3 8 143868189C> T null G S 1664 1664 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs113992087 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868186T> C null I V 1665 1665 5.99E-4 missense 0.063 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659799 8q24.3 8 143868179T> C null D G 1667 1667 missense 0.726 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs535303334 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868180C> T null D N 1667 1667 3.99E-4 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659795 8q24.3 8 143868176G> A null P L 1668 1668 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1205958964 8q24.3 8 143868177G> A null P S 1668 1668 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs56005803 8q24.3 8 143868174C> T null V M 1669 1669 2.0E-4 missense 0.973 probably damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781993312 8q24.3 8 143868171G> A null H Y 1670 1670 missense 0.028 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659790 8q24.3 8 143868167C> T null S N 1671 1671 missense 0.865 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs372412135 8q24.3 8 143868163G> C null H Q 1672 1672 missense 0.591 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs372412135 8q24.3 8 143868163G> T null H Q 1672 1672 missense 0.591 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368771113 8q24.3 8 143868162G> A null R C 1673 1673 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375880231 8q24.3 8 143868161C> T null R H 1673 1673 0.001597 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782458066 8q24.3 8 143868159C> G null V L 1674 1674 missense 0.068 benign 0.63 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782458066 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868159C> T null V M 1674 1674 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782232053 8q24.3 8 143868155G> C null P R 1675 1675 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199604236 8q24.3 8 143868153C> T null V M 1676 1676 0.001797 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376282743 8q24.3 8 143868147C> A null V L 1678 1678 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376282743 8q24.3 8 143868147C> T null V M 1678 1678 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782690206 8q24.3 8 143868140T> C null Y C 1680 1680 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373007257 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868138G> A null R C 1681 1681 missense 0.533 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112136718 8q24.3 8 143868137C> T null R H 1681 1681 0.02915 missense 0.293 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112136718 8q24.3 8 143868137C> A null R L 1681 1681 0.02915 missense 0.091 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373007257 8q24.3 8 143868138G> T null R S 1681 1681 missense 0.017 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200410147 8q24.3 8 143868133G> T null C * 1682 1682 0.001597 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs370791408 8q24.3 8 143868135A> G null C R 1682 1682 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782335785 8q24.3 8 143868134C> T null C Y 1682 1682 missense 0.058 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191533123 8q24.3 8 143868132C> T null G S 1683 1683 0.002596 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782252606 8q24.3 8 143868127G> T null Y * 1684 1684 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs928732802 8q24.3 8 143868126A> G null F L 1685 1685 missense 0.546 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs531080905 8q24.3 8 143868121G> T null D E 1686 1686 2.0E-4 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113397845 8q24.3 8 143868123C> G null D H 1686 1686 0.006789 missense 0.522 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113397845 8q24.3 8 143868123C> T null D N 1686 1686 0.006789 missense 0.125 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781849833 8q24.3 8 143868118C> G null E D 1687 1687 missense 0.802 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371516576 8q24.3 8 143868119T> C null E G 1687 1687 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs374991759 8q24.3 8 143868120C> T null E K 1687 1687 missense 0.94 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781907522 8q24.3 8 143868112C> T null M I 1689 1689 missense 0.074 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782497288 8q24.3 8 143868113A> T null M K 1689 1689 missense 0.377 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659768 8q24.3 8 143868111T> C null N D 1690 1690 missense 0.913 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782797340 8q24.3 8 143868110T> G null N T 1690 1690 missense 0.844 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs368610834 8q24.3 8 143868108G> A null R C 1691 1691 missense 0.015 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs781799132 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868107C> T null R H 1691 1691 missense 0.599 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782371964 8q24.3 8 143868104A> T null I N 1692 1692 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782371964 8q24.3 8 143868104A> G null I T 1692 1692 missense 0.719 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs542305473 8q24.3 8 143868105T> C null I V 1692 1692 5.99E-4 missense 0.001 benign 0.71 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782179842 8q24.3 8 143868102G> T null L M 1693 1693 missense 0.901 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782179842 8q24.3 8 143868102G> C null L V 1693 1693 missense 0.768 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1239708268 8q24.3 8 143868099C> T null A T 1694 1694 missense 0.173 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782618214 8q24.3 8 143868098G> A null A V 1694 1694 missense 0.028 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs201781730 8q24.3 8 143868096C> G null D H 1695 1695 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782550404 8q24.3 8 143868093G> A null P S 1696 1696 missense 0.376 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659748 8q24.3 8 143868090T> A null S C 1697 1697 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs782494245 8q24.3 8 143868086T> C null D G 1698 1698 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201230565 8q24.3 8 143868087C> T null D N 1698 1698 9.98E-4 missense 0.951 probably damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377176052 8q24.3 8 143868084C> T null D N 1699 1699 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs781881049 8q24.3 8 143868081T> C null T A 1700 1700 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781897380 8q24.3 8 143868078T> C null K E 1701 1701 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1173317936 8q24.3 8 143868076C> G null K N 1701 1701 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1376533093 8q24.3 8 143868074C> T null G D 1702 1702 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659742 8q24.3 8 143868075C> T null G S 1702 1702 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1462946677 8q24.3 8 143868071A> C null F C 1703 1703 missense 1.0 probably damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782063523 8q24.3 8 143868069A> G null F L 1704 1704 missense 0.841 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1446502791 8q24.3 8 143868065T> C null D G 1705 1705 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs782004743 8q24.3 8 143868066C> T null D N 1705 1705 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782083701 8q24.3 8 143868062G> C null P R 1706 1706 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1217637496 8q24.3 8 143868060T> C null N D 1707 1707 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1217637496 8q24.3 8 143868060T> G null N H 1707 1707 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368226184 8q24.3 8 143868056G> A null T M 1708 1708 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200173209 8q24.3 8 143868052G> T null H Q 1709 1709 missense 0.155 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1228084101 8q24.3 8 143868054G> A null H Y 1709 1709 missense 0.905 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782310626 8q24.3 8 143868051C> T null E K 1710 1710 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782237967 8q24.3 8 143868046G> T null N K 1711 1711 missense 0.96 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs367995617 8q24.3 8 143868041G> T null T K 1713 1713 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs367995617 8q24.3 8 143868041G> A null T M 1713 1713 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs112565420 8q24.3 8 143868036G> C null L V 1715 1715 missense 0.006 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782540382 8q24.3 8 143868033G> T null Q K 1716 1716 missense 0.747 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs781802435 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143868021G> A null R C 1720 1720 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs187594766 8q24.3 8 143868020C> T null R H 1720 1720 3.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,gnomAD rs183188472 8q24.3 8 143868012C> T null E K 1723 1723 2.0E-4 missense 0.009 benign 0.43 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,gnomAD rs183188472 8q24.3 8 143868012C> G null E Q 1723 1723 2.0E-4 missense 0.009 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1465476273 8q24.3 8 143868009C> G null D H 1724 1724 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1465476273 8q24.3 8 143868009C> T null D N 1724 1724 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1465476273 8q24.3 8 143868009C> A null D Y 1724 1724 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782167614 8q24.3 8 143868006G> A null P S 1725 1725 missense 0.476 possibly damaging 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782167614 8q24.3 8 143868006G> T null P T 1725 1725 missense 0.844 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373801430 8q24.3 8 143868003C> T null E K 1726 1726 missense 0.003 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs370264014 8q24.3 8 143867999G> A null T M 1727 1727 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659712 8q24.3 8 143867987A> G null L P 1731 1731 missense 0.657 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659715 8q24.3 8 143867988G> C null L V 1731 1731 missense 0.242 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781995720 8q24.3 8 143867982G> A null Q * 1733 1733 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782415997 8q24.3 8 143867981T> C null Q R 1733 1733 missense 0.293 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659703 8q24.3 8 143867978A> G null I T 1734 1734 missense 0.656 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs534960078 8q24.3 8 143867979T> C null I V 1734 1734 2.0E-4 missense 0.024 benign 0.85 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs570654385 8q24.3 8 143867975A> G null I T 1735 1735 2.0E-4 missense 0.023 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659700 8q24.3 8 143867976T> C null I V 1735 1735 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA rs782428957 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867966C> T null G E 1738 1738 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782428957 8q24.3 8 143867966C> A null G V 1738 1738 missense 0.967 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1187740127 8q24.3 8 143867964C> T null E K 1739 1739 missense 0.341 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1187740127 8q24.3 8 143867964C> G null E Q 1739 1739 missense 0.856 possibly damaging 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781933575 8q24.3 8 143867959G> C null N K 1740 1740 missense 0.0 benign 0.94 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781933575 8q24.3 8 143867959G> T null N K 1740 1740 missense 0.0 benign 0.94 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659689 8q24.3 8 143867954A> C null V G 1742 1742 missense 0.037 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs72499137 8q24.3 8 143867955C> T null V M 1742 1742 0.01218 missense 0.006 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376292800 8q24.3 8 143867951T> G null Y S 1743 1743 missense 0.106 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs530627515 8q24.3 8 143867948A> T null I N 1744 1744 3.99E-4 missense 0.515 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1455458845 8q24.3 8 143867940C> T null A T 1747 1747 missense 0.111 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs371555322 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867936G> A null T M 1748 1748 2.0E-4 missense 0.03 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659679 8q24.3 8 143867932T> A null R S 1749 1749 missense 0.342 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659677 8q24.3 8 143867930T> A null H L 1750 1750 missense 0.0 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73375119 8q24.3 8 143867929G> C null H Q 1750 1750 0.01338 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1293813963 8q24.3 8 143867931G> A null H Y 1750 1750 missense 0.131 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs202016455 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867928C> T null V M 1751 1751 missense 0.005 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659672 8q24.3 8 143867924A> G null L S 1752 1752 missense 0.87 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368988023 8q24.3 8 143867918G> C null S C 1754 1754 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368988023 8q24.3 8 143867918G> A null S F 1754 1754 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782417780 8q24.3 8 143867915C> G null R T 1755 1755 missense 0.001 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659668 8q24.3 8 143867910C> T null A T 1757 1757 missense 0.0 benign 0.72 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659667 8q24.3 8 143867907T> G null K Q 1758 1758 missense 0.015 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201036475 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867901G> A null R C 1760 1760 3.99E-4 missense 0.409 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs189786019 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867900C> T null R H 1760 1760 2.0E-4 missense 0.0 benign 0.83 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs189786019 8q24.3 8 143867900C> G null R P 1760 1760 2.0E-4 missense 0.149 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368495019 8q24.3 8 143867898C> G null V L 1761 1761 missense 0.011 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368495019 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867898C> A null V L 1761 1761 missense 0.011 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368495019 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867898C> T null V M 1761 1761 missense 0.05 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782491237 8q24.3 8 143867895C> T null G R 1762 1762 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781827926 8q24.3 8 143867891C> T null R K 1763 1763 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781827926 8q24.3 8 143867891C> G null R T 1763 1763 missense 0.08 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1181620945 8q24.3 8 143867889A> G null F L 1764 1764 missense 0.406 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1409115192 8q24.3 8 143867885G> A null A V 1765 1765 missense 0.054 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782519414 8q24.3 8 143867880G> A null Q * 1767 1767 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781908975 8q24.3 8 143867877C> T null V M 1768 1768 missense 0.005 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782787237 8q24.3 8 143867874C> T null V I 1769 1769 missense 0.027 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs931881442 8q24.3 8 143867870G> A null S F 1770 1770 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1313446710 8q24.3 8 143867866G> T null F L 1771 1771 missense 0.0 benign 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563881121 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 8q24.3 8 143867863C> T null W * 1772 1772 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1302076068 8q24.3 8 143867855A> G null L P 1775 1775 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782367327 8q24.3 8 143867849G> A null S F 1777 1777 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782367327 8q24.3 8 143867849G> T null S Y 1777 1777 missense 0.629 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs561337449 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867846G> A null P L 1778 1778 missense 0.001 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1241891345 8q24.3 8 143867847G> A null P S 1778 1778 missense 0.001 benign 0.67 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs374536102 8q24.3 8 143867842G> C null Y * 1779 1779 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781935385 8q24.3 8 143867844A> G null Y H 1779 1779 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659645 8q24.3 8 143867835C> G null E Q 1782 1782 missense 0.357 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782233446 8q24.3 8 143867829T> C null R G 1784 1784 missense 0.311 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1352428760 8q24.3 8 143867828C> T null R K 1784 1784 missense 0.003 benign 0.89 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200136005 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867822C> T null R Q 1786 1786 missense 0.051 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370265526 8q24.3 8 143867823G> A null R W 1786 1786 2.0E-4 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782698531 8q24.3 8 143867820C> T null E K 1787 1787 missense 0.013 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376434550 8q24.3 8 143867816A> C null L R 1788 1788 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782521746 8q24.3 8 143867817G> C null L V 1788 1788 missense 0.857 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1379880702 8q24.3 8 143867814T> A null I F 1789 1789 missense 0.116 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782776705 8q24.3 8 143867809C> G null Q H 1790 1790 missense 0.723 possibly damaging 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs554713560 8q24.3 8 143867811G> T null Q K 1790 1790 2.0E-4 missense 0.173 benign 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs541551993 8q24.3 8 143867806C> G null E D 1791 1791 2.0E-4 missense 0.006 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659632 8q24.3 8 143867798G> A null A V 1794 1794 missense 0.003 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781969807 8q24.3 8 143867791A> C null S R 1796 1796 missense 0.005 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs371009588 8q24.3 8 143867790C> T null G R 1797 1797 missense 0.136 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs371009588 8q24.3 8 143867790C> G null G R 1797 1797 missense 0.136 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1175203571 8q24.3 8 143867786C> T null G D 1798 1798 missense 0.001 benign 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs376518639 8q24.3 8 143867787C> G null G R 1798 1798 missense 0.076 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563880989 8q24.3 8 143867781C> A null E * 1800 1800 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1448713962 8q24.3 8 143867777T> C null K R 1801 1801 missense 0.0 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373276585 8q24.3 8 143867775A> C null L V 1802 1802 missense 0.644 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659617 8q24.3 8 143867766T> C null I V 1805 1805 missense 0.003 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782316359 8q24.3 8 143867763T> C null I V 1806 1806 missense 0.079 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs897305222 8q24.3 8 143867757T> C null T A 1808 1808 missense 0.003 benign 0.48 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782604818 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867756G> A null T M 1808 1808 missense 0.681 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659597 8q24.3 8 143867750A> T null I N 1810 1810 missense 0.748 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs552597500 8q24.3 8 143867751T> C null I V 1810 1810 2.0E-4 missense 0.003 benign 0.73 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1201187415 8q24.3 8 143867744T> G null E A 1812 1812 missense 0.651 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1469098507 8q24.3 8 143867745C> T null E K 1812 1812 missense 0.813 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1469098507 8q24.3 8 143867745C> G null E Q 1812 1812 missense 0.9 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659592 8q24.3 8 143867741G> T null T K 1813 1813 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659589 8q24.3 8 143867738T> C null E G 1814 1814 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC rs534326544 8q24.3 8 143867739C> G null E Q 1814 1814 2.0E-4 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79961029 8q24.3 8 143867735G> A null T M 1815 1815 0.008387 missense 0.007 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs782448102 8q24.3 8 143867724C> A null G C 1819 1819 missense 0.35 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs782448102 8q24.3 8 143867724C> T null G S 1819 1819 missense 0.023 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs373216268 8q24.3 8 143867723C> A null G V 1819 1819 missense 0.0 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782735649 8q24.3 8 143867719G> C null I M 1820 1820 missense 0.075 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659585 8q24.3 8 143867721T> C null I V 1820 1820 missense 0.019 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563880867 8q24.3 8 143867718T> C null K E 1821 1821 missense 0.173 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781870609 8q24.3 8 143867715C> G null V L 1822 1822 missense 0.027 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs781870609 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867715C> T null V M 1822 1822 missense 0.177 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150969952 8q24.3 8 143867711G> A null A V 1823 1823 0.001797 missense 0.08 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1328917596 8q24.3 8 143867706T> C null I V 1825 1825 missense 0.013 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1435082710 8q24.3 8 143867699C> T null G E 1827 1827 missense 0.675 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782736381 8q24.3 8 143867696T> C null E G 1828 1828 missense 0.006 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782054117 8q24.3 8 143867694C> A null V L 1829 1829 missense 0.762 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781976496 8q24.3 8 143867687G> A null A V 1831 1831 missense 0.698 possibly damaging 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659569 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867684G> A null A V 1832 1832 missense 0.062 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659568 8q24.3 8 143867681T> C null D G 1833 1833 missense 0.014 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659562 8q24.3 8 143867679G> C null L V 1834 1834 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563880807 8q24.3 8 143867673T> A null N Y 1836 1836 missense 0.711 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1217295753 8q24.3 8 143867670A> G null S P 1837 1837 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563880798 8q24.3 8 143867665C> A null R S 1838 1838 missense 0.007 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143485250 8q24.3 8 143867664C> T null V I 1839 1839 0.004193 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143485250 8q24.3 8 143867664C> G null V L 1839 1839 0.004193 missense 0.007 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372006372 8q24.3 8 143867659G> C null I M 1840 1840 missense 0.74 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369677374 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867658C> T null D N 1841 1841 missense 0.054 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs868915013 8q24.3 8 143867655G> A null Q * 1842 1842 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782495364 8q24.3 8 143867648G> A null T I 1844 1844 missense 0.022 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659551 8q24.3 8 143867645A> G null L P 1845 1845 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782655371 8q24.3 8 143867641G> C null H Q 1846 1846 missense 0.043 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs879947352 8q24.3 8 143867642T> C null H R 1846 1846 missense 0.001 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782205604 8q24.3 8 143867643G> A null H Y 1846 1846 missense 0.131 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375302155 8q24.3 8 143867640T> G null T P 1847 1847 3.99E-4 missense 0.131 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781901196 8q24.3 8 143867637G> A null L F 1848 1848 missense 0.684 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372213876 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867634G> A null R C 1849 1849 2.0E-4 missense 0.001 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201996221 8q24.3 8 143867633C> T null R H 1849 1849 missense 0.0 benign 0.99 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201996221 8q24.3 8 143867633C> A null R L 1849 1849 missense 0.001 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659543 8q24.3 8 143867631C> G null V L 1850 1850 missense 0.0 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782087018 8q24.3 8 143867628C> T null G R 1851 1851 missense 0.024 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782087018 8q24.3 8 143867628C> G null G R 1851 1851 missense 0.024 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782779716 8q24.3 8 143867624C> T null R K 1852 1852 missense 0.0 benign 0.72 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782779716 8q24.3 8 143867624C> G null R T 1852 1852 missense 0.005 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782510299 8q24.3 8 143867618C> T null G E 1854 1854 missense 0.006 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782312316 8q24.3 8 143867619C> T null G R 1854 1854 missense 0.325 benign 0.51 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1361822904 8q24.3 8 143867616C> A null G * 1855 1855 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781953027 8q24.3 8 143867615C> T null G E 1855 1855 missense 0.0 benign 0.36 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659528 8q24.3 8 143867611C> G null Q H 1856 1856 missense 0.018 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1398708373 8q24.3 8 143867612T> C null Q R 1856 1856 missense 0.137 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373870804 8q24.3 8 143867607G> A null L F 1858 1858 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373870804 8q24.3 8 143867607G> C null L V 1858 1858 missense 0.12 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659525 8q24.3 8 143867604T> C null S G 1859 1859 missense 0.21 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659524 8q24.3 8 143867601T> C null T A 1860 1860 missense 0.009 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371299411 8q24.3 8 143867600G> A null T M 1860 1860 missense 0.276 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs971453097 8q24.3 8 143867595C> A null E * 1862 1862 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782493859 8q24.3 8 143867583G> A null P S 1866 1866 missense 0.0 benign 0.62 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368673995 8q24.3 8 143867580A> T null Y N 1867 1867 missense 0.803 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782499449 8q24.3 8 143867577G> C null L V 1868 1868 missense 0.654 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed rs375397416 8q24.3 8 143867570C> A null G V 1870 1870 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782069995 8q24.3 8 143867565C> T null G S 1872 1872 missense 0.43 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781839108 8q24.3 8 143867564C> A null G V 1872 1872 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659515 8q24.3 8 143867561C> G null C S 1873 1873 missense 0.01 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782728039 8q24.3 8 143867557A> C null I M 1874 1874 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659513 8q24.3 8 143867558A> G null I T 1874 1874 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200834681 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867555G> A null A V 1875 1875 5.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659511 8q24.3 8 143867553C> A null G W 1876 1876 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782429963 8q24.3 8 143867550C> A null V F 1877 1877 missense 0.822 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782429963 8q24.3 8 143867550C> T null V I 1877 1877 missense 0.572 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782429963 8q24.3 8 143867550C> G null V L 1877 1877 missense 0.062 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs565248760 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867546G> A null T M 1878 1878 7.99E-4 missense 0.005 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs532408718 8q24.3 8 143867547T> G null T P 1878 1878 2.0E-4 missense 0.237 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782609773 8q24.3 8 143867543A> C null V G 1879 1879 missense 0.124 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782239162 8q24.3 8 143867544C> A null V L 1879 1879 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782239162 8q24.3 8 143867544C> T null V M 1879 1879 missense 0.022 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1554659506 8q24.3 8 143867541G> T null P T 1880 1880 missense 0.173 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1332647585 8q24.3 8 143867535T> C null T A 1882 1882 missense 0.081 benign 0.5 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1240051743 8q24.3 8 143867525A> G null V A 1885 1885 missense 0.225 benign 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1311728746 8q24.3 8 143867523T> G null M L 1886 1886 missense 0.003 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659501 8q24.3 8 143867519C> G null S T 1887 1887 missense 0.147 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs782395289 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867517G> A null L F 1888 1888 missense 0.003 benign 0.43 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs370750586 8q24.3 8 143867512A> T null H Q 1889 1889 missense 0.005 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs868913138 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867504C> T null S N 1892 1892 missense 0.211 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782548581 8q24.3 8 143867503G> C null S R 1892 1892 missense 0.022 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659499 8q24.3 8 143867501C> T null R K 1893 1893 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782616789 8q24.3 8 143867496C> T null E K 1895 1895 missense 0.003 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782616789 8q24.3 8 143867496C> G null E Q 1895 1895 missense 0.086 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200778068 8q24.3 8 143867486G> C null P R 1898 1898 missense 0.479 possibly damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781837101 8q24.3 8 143867483G> A null A V 1899 1899 missense 0.0 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659494 8q24.3 8 143867480G> C null A G 1900 1900 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs368672062 8q24.3 8 143867477A> G null F S 1901 1901 missense 0.006 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659492 8q24.3 8 143867475C> T null A T 1902 1902 missense 0.155 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs377003169 8q24.3 8 143867474G> A null A V 1902 1902 missense 0.452 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782700219 8q24.3 8 143867469A> G null W R 1904 1904 missense 0.0 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1044515215 8q24.3 8 143867468C> G null W S 1904 1904 missense 0.006 benign 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs949761822 8q24.3 8 143867465A> T null L Q 1905 1905 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1402021011 8q24.3 8 143867458C> G null E D 1907 1907 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs561179913 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867456G> A null A V 1908 1908 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371992082 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867448C> T null A T 1911 1911 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs572259751 8q24.3 8 143867445T> C null T A 1912 1912 2.0E-4 missense 0.758 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs541086730 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867442C> T null G R 1913 1913 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1254171352 8q24.3 8 143867436G> A null L F 1915 1915 missense 0.414 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659482 8q24.3 8 143867435A> T null L H 1915 1915 missense 0.8 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1554659478 8q24.3 8 143867429T> G null D A 1917 1917 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs576788732 8q24.3 8 143867428G> T null D E 1917 1917 2.0E-4 missense 0.188 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659479 8q24.3 8 143867430C> G null D H 1917 1917 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659479 8q24.3 8 143867430C> T null D N 1917 1917 missense 0.275 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1456195229 8q24.3 8 143867427G> A null P S 1918 1918 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782661898 8q24.3 8 143867424A> G null C R 1919 1919 missense 0.0 benign 0.51 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782460294 8q24.3 8 143867418G> A null R C 1921 1921 missense 0.235 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs114128539 8q24.3 8 143867417C> T null R H 1921 1921 2.0E-4 missense 0.0 benign 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs114128539 8q24.3 8 143867417C> A null R L 1921 1921 2.0E-4 missense 0.022 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782470665 8q24.3 8 143867411T> C null K R 1923 1923 missense 0.003 benign 0.76 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659464 8q24.3 8 143867409G> T null L I 1924 1924 missense 0.659 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781882643 8q24.3 8 143867405G> A null S F 1925 1925 missense 0.799 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659463 8q24.3 8 143867406A> G null S P 1925 1925 missense 0.015 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1466552231 8q24.3 8 143867403C> G null V L 1926 1926 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1466552231 8q24.3 8 143867403C> T null V M 1926 1926 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659461 8q24.3 8 143867399T> C null D G 1927 1927 missense 0.306 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1173311650 8q24.3 8 143867400C> T null D N 1927 1927 missense 0.021 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659459 8q24.3 8 143867395C> G null E D 1928 1928 missense 0.54 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782767924 8q24.3 8 143867394C> T null A T 1929 1929 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1009516137 8q24.3 8 143867390A> G null V A 1930 1930 missense 0.116 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782020110 8q24.3 8 143867391C> G null V L 1930 1930 missense 0.024 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782020110 8q24.3 8 143867391C> T null V M 1930 1930 missense 0.845 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199879536 8q24.3 8 143867387T> C null D G 1931 1931 0.001797 missense 0.009 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782718501 8q24.3 8 143867388C> T null D N 1931 1931 missense 0.051 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1369905936 8q24.3 8 143867385C> T null V M 1932 1932 missense 0.136 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659448 8q24.3 8 143867378A> T null L Q 1934 1934 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1299168217 8q24.3 8 143867379G> C null L V 1934 1934 missense 0.073 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782238212 8q24.3 8 143867375A> G null V A 1935 1935 missense 0.819 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782393717 8q24.3 8 143867376C> A null V L 1935 1935 missense 0.476 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782393717 8q24.3 8 143867376C> T null V M 1935 1935 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782195591 8q24.3 8 143867372T> C null N S 1936 1936 missense 0.0 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA rs554849814 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867370C> T null E K 1937 1937 2.0E-4 missense 0.003 benign 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC rs554849814 8q24.3 8 143867370C> G null E Q 1937 1937 2.0E-4 missense 0.009 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372896876 8q24.3 8 143867360C> A null R L 1940 1940 missense 0.005 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372896876 8q24.3 8 143867360C> G null R P 1940 1940 missense 0.395 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372896876 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867360C> T null R Q 1940 1940 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201495006 8q24.3 8 143867361G> A null R W 1940 1940 missense 0.648 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659437 8q24.3 8 143867356C> G null E D 1941 1941 missense 0.009 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782456492 8q24.3 8 143867353C> G null R S 1942 1942 missense 0.011 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659434 8q24.3 8 143867352G> A null L F 1943 1943 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1422000693 8q24.3 8 143867348A> G null L P 1944 1944 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782763036 8q24.3 8 143867346T> C null K E 1945 1945 missense 0.001 benign 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782125978 8q24.3 8 143867343C> T null A T 1946 1946 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368596970 8q24.3 8 143867340C> A null E * 1947 1947 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782308067 8q24.3 8 143867338T> A null E D 1947 1947 missense 0.797 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368596970 8q24.3 8 143867340C> T null E K 1947 1947 missense 0.67 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368596970 8q24.3 8 143867340C> G null E Q 1947 1947 missense 0.36 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781931058 8q24.3 8 143867339T> A null E V 1947 1947 missense 0.234 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782092695 8q24.3 8 143867335T> A null R S 1948 1948 missense 0.178 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs559701261 8q24.3 8 143867336C> G null R T 1948 1948 missense 0.3 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781948091 8q24.3 8 143867328T> C null T A 1951 1951 missense 0.164 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782399863 8q24.3 8 143867327G> A null T M 1951 1951 missense 0.11 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563880200 8q24.3 8 143867325C> A null G C 1952 1952 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1313094991 8q24.3 8 143867324C> T null G D 1952 1952 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1313094991 8q24.3 8 143867324C> A null G V 1952 1952 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782694610 8q24.3 8 143867322A> T null Y N 1953 1953 missense 0.532 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659415 8q24.3 8 143867315T> C null D G 1955 1955 missense 0.307 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782200151 8q24.3 8 143867316C> G null D H 1955 1955 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782200151 8q24.3 8 143867316C> A null D Y 1955 1955 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782487282 8q24.3 8 143867312G> A null P L 1956 1956 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782487282 8q24.3 8 143867312G> T null P Q 1956 1956 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782487282 8q24.3 8 143867312G> C null P R 1956 1956 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659408 8q24.3 8 143867309G> T null A D 1957 1957 missense 0.001 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs377560588 8q24.3 8 143867310C> T null A T 1957 1957 missense 0.083 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659408 8q24.3 8 143867309G> A null A V 1957 1957 missense 0.013 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs375138049 8q24.3 8 143867306G> A null T I 1958 1958 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs375138049 8q24.3 8 143867306G> T null T K 1958 1958 missense 0.656 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659407 8q24.3 8 143867303C> G null G A 1959 1959 missense 0.857 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1164277542 8q24.3 8 143867298T> C null T A 1961 1961 missense 0.121 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143133632 8q24.3 8 143867297G> T null T K 1961 1961 5.99E-4 missense 0.02 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143133632 8q24.3 8 143867297G> A null T M 1961 1961 5.99E-4 missense 0.08 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143133632 8q24.3 8 143867297G> C null T R 1961 1961 5.99E-4 missense 0.011 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1358525857 8q24.3 8 143867295T> A null I F 1962 1962 missense 0.605 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372536695 8q24.3 8 143867291G> A null P L 1963 1963 missense 0.387 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659405 8q24.3 8 143867284G> T null F L 1965 1965 missense 0.027 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs976943937 8q24.3 8 143867285A> T null F Y 1965 1965 missense 0.015 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659404 8q24.3 8 143867283G> A null Q * 1966 1966 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782149613 8q24.3 8 143867279G> T null A D 1967 1967 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs199828972 8q24.3 8 143867280C> G null A P 1967 1967 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs199828972 8q24.3 8 143867280C> T null A T 1967 1967 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782230626 8q24.3 8 143867272C> A null Q H 1969 1969 missense 0.35 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782230626 8q24.3 8 143867272C> G null Q H 1969 1969 missense 0.35 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1316876752 8q24.3 8 143867269C> G null K N 1970 1970 missense 0.714 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659401 8q24.3 8 143867268G> A null Q * 1971 1971 stop gained 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373165682 8q24.3 8 143867260G> C null I M 1973 1973 missense 0.824 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs782691764 8q24.3 8 143867261A> G null I T 1973 1973 missense 0.344 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs528153180 8q24.3 8 143867259C> T null E K 1974 1974 missense 0.001 benign 0.92 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs367640831 8q24.3 8 143867252G> A null A V 1976 1976 3.99E-4 missense 0.073 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781865685 8q24.3 8 143867246G> A null A V 1978 1978 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782768826 8q24.3 8 143867244G> C null L V 1979 1979 missense 0.488 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1400052503 8q24.3 8 143867230C> G null E D 1983 1983 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs35176503 8q24.3 8 143867224C> G null Q H 1985 1985 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782050033 8q24.3 8 143867222A> C null V G 1986 1986 missense 0.563 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782734320 8q24.3 8 143867223C> A null V L 1986 1986 missense 0.006 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782734320 8q24.3 8 143867223C> T null V M 1986 1986 missense 0.031 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs545639287 8q24.3 8 143867220C> T null A T 1987 1987 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1360747826 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867219G> A null A V 1987 1987 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs571579347 8q24.3 8 143867216G> T null T K 1988 1988 2.0E-4 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs571579347 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867216G> A null T M 1988 1988 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782033531 8q24.3 8 143867213C> G null G A 1989 1989 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782033531 8q24.3 8 143867213C> T null G E 1989 1989 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs375002026 8q24.3 8 143867214C> A null G W 1989 1989 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782364626 8q24.3 8 143867210C> G null G A 1990 1990 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782195794 8q24.3 8 143867211C> A null G C 1990 1990 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782364626 8q24.3 8 143867210C> T null G D 1990 1990 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782195794 8q24.3 8 143867211C> T null G S 1990 1990 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782364626 8q24.3 8 143867210C> A null G V 1990 1990 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782200809 8q24.3 8 143867208C> A null V F 1991 1991 missense 0.59 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782200809 8q24.3 8 143867208C> T null V I 1991 1991 missense 0.006 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782653009 8q24.3 8 143867204A> G null I T 1992 1992 missense 0.656 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139977710 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867202C> T null D N 1993 1993 0.001398 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782461729 8q24.3 8 143867199G> C null P A 1994 1994 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782461729 8q24.3 8 143867199G> A null P S 1994 1994 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782461729 8q24.3 8 143867199G> T null P T 1994 1994 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781793059 8q24.3 8 143867193G> T null H N 1996 1996 missense 0.211 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78008227 8q24.3 8 143867191G> T null H Q 1996 1996 0.007788 missense 0.036 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781793059 8q24.3 8 143867193G> A null H Y 1996 1996 missense 0.003 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1237705176 8q24.3 8 143867189T> G null H P 1997 1997 missense 0.434 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782481607 8q24.3 8 143867187G> A null H Y 1998 1998 missense 0.031 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782809770 8q24.3 8 143867184G> C null R G 1999 1999 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782150025 8q24.3 8 143867183C> T null R Q 1999 1999 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782809770 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867184G> A null R W 1999 1999 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs375927494 8q24.3 8 143867181G> A null L F 2000 2000 missense 0.868 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1412635359 8q24.3 8 143867180A> G null L P 2000 2000 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1036757233 8q24.3 8 143867177G> A null P L 2001 2001 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782089709 8q24.3 8 143867178G> A null P S 2001 2001 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782379600 8q24.3 8 143867174A> G null L P 2002 2002 missense 0.693 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782379600 8q24.3 8 143867174A> C null L R 2002 2002 missense 0.711 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782107684 8q24.3 8 143867172C> A null E * 2003 2003 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782042148 8q24.3 8 143867170T> A null E D 2003 2003 missense 0.003 benign 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782107684 8q24.3 8 143867172C> G null E Q 2003 2003 missense 0.045 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1466875843 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143867169T> C null T A 2004 2004 missense 0.006 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1328857278 8q24.3 8 143867168G> A null T I 2004 2004 missense 0.019 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659360 8q24.3 8 143867162T> C null Y C 2006 2006 missense 0.031 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659359 8q24.3 8 143867159C> G null R T 2007 2007 missense 0.08 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs527896611 8q24.3 8 143867156C> T null R Q 2008 2008 2.0E-4 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs189688618 8q24.3 8 143867157G> A null R W 2008 2008 2.0E-4 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782207878 8q24.3 8 143867153C> T null G D 2009 2009 missense 0.399 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781885118 8q24.3 8 143867149A> T null C * 2010 2010 stop gained 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs540799146 8q24.3 8 143867151A> G null C R 2010 2010 7.99E-4 missense 0.563 possibly damaging 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs540799146 8q24.3 8 143867151A> T null C S 2010 2010 7.99E-4 missense 0.019 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs146515033 8q24.3 8 143867144T> G null H P 2012 2012 missense 0.026 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs146515033 8q24.3 8 143867144T> C null H R 2012 2012 missense 0.0 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781835809 8q24.3 8 143867140C> G null K N 2013 2013 missense 0.014 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1245014077 8q24.3 8 143867141T> C null K R 2013 2013 missense 0.0 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1424150460 8q24.3 8 143867135A> G null I T 2015 2015 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782724618 8q24.3 8 143867136T> C null I V 2015 2015 missense 0.003 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs368863679 8q24.3 8 143867131A> T null Y * 2016 2016 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782820648 8q24.3 8 143867132T> C null Y C 2016 2016 missense 0.719 possibly damaging 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781847135 8q24.3 8 143867133A> C null Y D 2016 2016 missense 0.122 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782820648 8q24.3 8 143867132T> A null Y F 2016 2016 missense 0.007 benign 0.96 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375707682 8q24.3 8 143867129G> T null A E 2017 2017 7.99E-4 missense 0.001 benign 0.75 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375707682 8q24.3 8 143867129G> C null A G 2017 2017 7.99E-4 missense 0.066 benign 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1395297000 8q24.3 8 143867130C> T null A T 2017 2017 missense 0.037 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375707682 8q24.3 8 143867129G> A null A V 2017 2017 7.99E-4 missense 0.001 benign 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659326 8q24.3 8 143867126A> G null L P 2018 2018 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs977353069 8q24.3 8 143867123A> G null I T 2019 2019 missense 0.085 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782322639 8q24.3 8 143867117T> G null D A 2021 2021 missense 0.43 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782322639 8q24.3 8 143867117T> C null D G 2021 2021 missense 0.024 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs186320706 8q24.3 8 143867118C> G null D H 2021 2021 2.0E-4 missense 0.846 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs186320706 8q24.3 8 143867118C> T null D N 2021 2021 2.0E-4 missense 0.025 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs186320706 8q24.3 8 143867118C> A null D Y 2021 2021 2.0E-4 missense 0.918 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782182155 8q24.3 8 143867115G> C null Q E 2022 2022 missense 0.013 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1230172972 8q24.3 8 143867111T> C null K R 2023 2023 missense 0.006 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782462479 8q24.3 8 143867106T> G null M L 2025 2025 missense 0.013 benign 0.69 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781868121 8q24.3 8 143867105A> G null M T 2025 2025 missense 0.001 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782462479 8q24.3 8 143867106T> C null M V 2025 2025 missense 0.003 benign 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659322 8q24.3 8 143867103T> C null R G 2026 2026 missense 0.037 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372460806 8q24.3 8 143867102C> T null R K 2026 2026 missense 0.0 benign 0.76 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368203446 8q24.3 8 143867101C> A null R S 2026 2026 3.99E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372460806 8q24.3 8 143867102C> G null R T 2026 2026 missense 0.0 benign 0.89 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781893307 8q24.3 8 143867100T> C null K E 2027 2027 missense 0.719 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs782452886 8q24.3 8 143867096C> G null R P 2028 2028 missense 0.974 probably damaging 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs782452886 8q24.3 8 143867096C> T null R Q 2028 2028 missense 0.933 probably damaging 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782711807 8q24.3 8 143867097G> A null R W 2028 2028 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782457896 8q24.3 8 143867093A> C null F C 2029 2029 missense 0.961 probably damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659311 8q24.3 8 143867092A> T null F L 2029 2029 missense 0.09 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782457896 8q24.3 8 143867093A> G null F S 2029 2029 missense 0.9 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781845272 8q24.3 8 143867090A> G null V A 2030 2030 missense 0.163 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659309 8q24.3 8 143867088C> G null D H 2031 2031 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201053920 8q24.3 8 143867084G> A null P L 2032 2032 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201053920 8q24.3 8 143867084G> T null P Q 2032 2032 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs536513369 8q24.3 8 143867080G> T null N K 2033 2033 2.0E-4 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs536513369 8q24.3 8 143867080G> C null N K 2033 2033 2.0E-4 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782819737 8q24.3 8 143867082T> A null N Y 2033 2033 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs572291032 8q24.3 8 143867079T> C null T A 2034 2034 2.0E-4 missense 0.453 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs553910552 8q24.3 8 143867078G> T null T K 2034 2034 2.0E-4 missense 0.78 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs553910552 8q24.3 8 143867078G> A null T M 2034 2034 2.0E-4 missense 0.469 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs553910552 8q24.3 8 143867078G> C null T R 2034 2034 2.0E-4 missense 0.842 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs572291032 8q24.3 8 143867079T> A null T S 2034 2034 2.0E-4 missense 0.164 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659299 8q24.3 8 143867076G> C null Q E 2035 2035 missense 0.019 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782469351 8q24.3 8 143867073C> A null E * 2036 2036 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782182830 8q24.3 8 143867071C> G null E D 2036 2036 missense 0.09 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782469351 8q24.3 8 143867073C> G null E Q 2036 2036 missense 0.341 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200700093 8q24.3 8 143867070T> C null K E 2037 2037 2.0E-4 missense 0.006 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs895620182 8q24.3 8 143867067C> A null V F 2038 2038 missense 0.79 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs895620182 8q24.3 8 143867067C> T null V I 2038 2038 missense 0.082 benign 0.73 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782764819 8q24.3 8 143867063G> A null S L 2039 2039 missense 0.09 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144123426 8q24.3 8 143867061A> T null Y N 2040 2040 9.98E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659289 8q24.3 8 143867060T> G null Y S 2040 2040 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782686212 8q24.3 8 143867058G> A null R * 2041 2041 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782097693 8q24.3 8 143867057C> T null R Q 2041 2041 missense 0.0 benign 0.94 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373346250 8q24.3 8 143867054T> G null E A 2042 2042 missense 0.242 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782110508 8q24.3 8 143867053C> G null E D 2042 2042 missense 0.009 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373346250 8q24.3 8 143867054T> C null E G 2042 2042 missense 0.311 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781948794 8q24.3 8 143867055C> G null E Q 2042 2042 missense 0.015 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659286 8q24.3 8 143867051A> C null L R 2043 2043 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1041275634 8q24.3 8 143867044C> G null E D 2045 2045 missense 0.003 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1452288940 8q24.3 8 143867042C> T null R K 2046 2046 missense 0.453 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed rs370803168 8q24.3 8 143867041C> A null R S 2046 2046 missense 0.656 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1403404823 8q24.3 8 143867038G> C null C W 2047 2047 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201587092 8q24.3 8 143867037G> A null R C 2048 2048 missense 0.292 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200500117 8q24.3 8 143867036C> T null R H 2048 2048 3.99E-4 missense 0.0 benign 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed rs369610998 8q24.3 8 143867034G> C null P A 2049 2049 missense 0.009 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79860671 8q24.3 8 143867030T> G null Q P 2050 2050 0.004792 missense 0.093 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs567287803 8q24.3 8 143867027T> C null E G 2051 2051 2.0E-4 missense 0.058 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563879620 8q24.3 8 143867028C> T null E K 2051 2051 missense 0.003 benign 0.61 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782301705 8q24.3 8 143867025C> G null D H 2052 2052 missense 0.195 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782301705 8q24.3 8 143867025C> T null D N 2052 2052 missense 0.003 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs925364651 8q24.3 8 143867024T> A null D V 2052 2052 missense 0.003 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782301705 8q24.3 8 143867025C> A null D Y 2052 2052 missense 0.264 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1260073543 8q24.3 8 143867022T> C null T A 2053 2053 missense 0.015 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782436797 8q24.3 8 143867021G> A null T M 2053 2053 missense 0.173 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782436797 8q24.3 8 143867021G> C null T R 2053 2053 missense 0.732 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659270 8q24.3 8 143867019C> G null G R 2054 2054 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368909298 8q24.3 8 143867014C> T null W * 2055 2055 2.0E-4 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782512165 8q24.3 8 143867015C> T null W * 2055 2055 stop gained 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368909298 8q24.3 8 143867014C> G null W C 2055 2055 2.0E-4 missense 0.924 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368909298 8q24.3 8 143867014C> A null W C 2055 2055 2.0E-4 missense 0.924 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7839934 8q24.3 8 143867013G> C null L V 2056 2056 0.2859 missense 0.0 benign 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1405753716 8q24.3 8 143867007A> G null F L 2058 2058 missense 0.003 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781812162 8q24.3 8 143867004G> C null P A 2059 2059 missense 0.306 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781980733 8q24.3 8 143867003G> T null P Q 2059 2059 missense 0.804 possibly damaging 0.92 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781812162 8q24.3 8 143867004G> A null P S 2059 2059 missense 0.225 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659265 8q24.3 8 143867000A> G null V A 2060 2060 missense 0.163 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1015473623 8q24.3 8 143866998T> A null N Y 2061 2061 missense 0.069 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782395561 8q24.3 8 143866995T> C null K E 2062 2062 missense 0.005 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1004039605 8q24.3 8 143866989C> T null A T 2064 2064 missense 0.0 benign 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139137378 8q24.3 8 143866985C> T null R Q 2065 2065 2.0E-4 missense 0.0 benign 0.5 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782111553 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866986G> A null R W 2065 2065 missense 0.365 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1198927285 8q24.3 8 143866980A> G null S P 2067 2067 missense 0.0 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs551942992 8q24.3 8 143866975C> G null E D 2068 2068 2.0E-4 missense 0.001 benign 0.62 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782613008 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866977C> T null E K 2068 2068 missense 0.0 benign 0.92 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782613008 8q24.3 8 143866977C> G null E Q 2068 2068 missense 0.009 benign 0.63 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs532157702 8q24.3 8 143866968C> G null D H 2071 2071 2.0E-4 missense 0.933 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs532157702 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866968C> T null D N 2071 2071 2.0E-4 missense 0.097 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782773843 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866963G> C null D E 2072 2072 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs189896129 8q24.3 8 143866965C> G null D H 2072 2072 0.002196 missense 0.568 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185044374 8q24.3 8 143866962C> T null E K 2073 2073 3.99E-4 missense 0.003 benign 0.87 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150650158 8q24.3 8 143866958G> T null T K 2074 2074 0.001797 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs150650158 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866958G> A null T M 2074 2074 0.001797 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150650158 8q24.3 8 143866958G> C null T R 2074 2074 0.001797 missense 0.514 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs368041373 8q24.3 8 143866952C> T null R K 2076 2076 missense 0.0 benign 0.79 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781937384 8q24.3 8 143866950C> T null A T 2077 2077 missense 0.654 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs573169771 8q24.3 8 143866949G> A null A V 2077 2077 missense 0.057 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659250 8q24.3 8 143866943T> C null E G 2079 2079 missense 0.372 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1301183048 8q24.3 8 143866944C> T null E K 2079 2079 missense 0.015 benign 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1301183048 8q24.3 8 143866944C> G null E Q 2079 2079 missense 0.037 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659248 8q24.3 8 143866940G> C null A G 2080 2080 missense 0.167 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1218997944 8q24.3 8 143866941C> T null A T 2080 2080 missense 0.018 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659248 8q24.3 8 143866940G> A null A V 2080 2080 missense 0.033 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782003100 8q24.3 8 143866936C> G null E D 2081 2081 missense 0.082 benign 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782003100 8q24.3 8 143866936C> A null E D 2081 2081 missense 0.082 benign 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1279792373 8q24.3 8 143866938C> T null E K 2081 2081 missense 0.003 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1279792373 8q24.3 8 143866938C> G null E Q 2081 2081 missense 0.015 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782374797 8q24.3 8 143866935G> C null Q E 2082 2082 missense 0.025 benign 0.68 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782374797 8q24.3 8 143866935G> T null Q K 2082 2082 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs925397944 8q24.3 8 143866931A> G null V A 2083 2083 missense 0.476 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659244 8q24.3 8 143866932C> G null V L 2083 2083 missense 0.048 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1220994374 8q24.3 8 143866928T> G null E A 2084 2084 missense 0.003 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1220994374 8q24.3 8 143866928T> C null E G 2084 2084 missense 0.058 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1489160721 8q24.3 8 143866929C> T null E K 2084 2084 missense 0.015 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs553276549 8q24.3 8 143866926T> G null I L 2085 2085 missense 0.022 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782318008 8q24.3 8 143866924G> C null I M 2085 2085 missense 0.037 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782476654 8q24.3 8 143866919A> T null V E 2087 2087 missense 0.641 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782626446 8q24.3 8 143866920C> T null V M 2087 2087 missense 0.875 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs370476982 8q24.3 8 143866916C> T null G E 2088 2088 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782566173 8q24.3 8 143866914T> C null R G 2089 2089 missense 0.466 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141900369 8q24.3 8 143866913C> T null R K 2089 2089 0.001198 missense 0.006 benign 0.83 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373694823 8q24.3 8 143866912C> A null R S 2089 2089 missense 0.306 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373694823 8q24.3 8 143866912C> G null R S 2089 2089 missense 0.306 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs536436352 8q24.3 8 143866909G> C null F L 2090 2090 missense 0.007 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782777055 8q24.3 8 143866908T> C null R G 2091 2091 missense 0.167 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782789068 8q24.3 8 143866904C> T null G D 2092 2092 missense 0.119 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782029754 8q24.3 8 143866905C> G null G R 2092 2092 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782029754 8q24.3 8 143866905C> T null G S 2092 2092 missense 0.808 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1290442553 8q24.3 8 143866900C> G null Q H 2093 2093 missense 0.494 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1400460856 8q24.3 8 143866901T> C null Q R 2093 2093 missense 0.006 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782061475 8q24.3 8 143866899T> G null K Q 2094 2094 missense 0.003 benign 0.41 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659234 8q24.3 8 143866895G> T null P Q 2095 2095 missense 0.013 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs542970349 8q24.3 8 143866893T> A null T S 2096 2096 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs782007848 8q24.3 8 143866889A> G null L P 2097 2097 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs782007848 8q24.3 8 143866889A> C null L R 2097 2097 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs572354463 8q24.3 8 143866890G> C null L V 2097 2097 2.0E-4 missense 0.026 benign 0.87 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1361051387 8q24.3 8 143866886C> T null W * 2098 2098 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1243160688 8q24.3 8 143866885C> G null W C 2098 2098 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782450682 8q24.3 8 143866883G> T null A E 2099 2099 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782669606 8q24.3 8 143866884C> G null A P 2099 2099 missense 0.003 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782669606 8q24.3 8 143866884C> A null A S 2099 2099 missense 0.015 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782669606 8q24.3 8 143866884C> T null A T 2099 2099 missense 0.0 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782525735 8q24.3 8 143866875T> G null N H 2102 2102 missense 0.773 possibly damaging 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs755180904 8q24.3 8 143866871G> A null S F 2103 2103 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs538831098 8q24.3 8 143866869C> A null E * 2104 2104 2.0E-4 stop gained 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs538831098 8q24.3 8 143866869C> T null E K 2104 2104 2.0E-4 missense 0.236 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371109688 8q24.3 8 143866866A> G null Y H 2105 2105 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376434440 8q24.3 8 143866863C> A null V L 2106 2106 missense 0.087 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs376434440 8q24.3 8 143866863C> T null V M 2106 2106 missense 0.082 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659218 8q24.3 8 143866860T> C null T A 2107 2107 missense 0.197 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs374405420 8q24.3 8 143866859G> A null T I 2107 2107 missense 0.776 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs374405420 8q24.3 8 143866859G> C null T R 2107 2107 missense 0.043 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs201160651 8q24.3 8 143866857C> T null E K 2108 2108 missense 0.056 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs201160651 8q24.3 8 143866857C> G null E Q 2108 2108 missense 0.625 possibly damaging 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs199859328 8q24.3 8 143866854C> T null E K 2109 2109 missense 0.04 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs377207781 8q24.3 8 143866851T> C null K E 2110 2110 missense 0.439 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs577724900 8q24.3 8 143866849C> A null K N 2110 2110 2.0E-4 missense 0.714 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1019316844 8q24.3 8 143866847T> A null K M 2111 2111 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs200372671 8q24.3 8 143866848T> G null K Q 2111 2111 2.0E-4 missense 0.891 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1019316844 8q24.3 8 143866847T> C null K R 2111 2111 missense 0.086 benign 0.92 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782639558 8q24.3 8 143866844A> T null L H 2112 2112 missense 0.012 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1554659203 8q24.3 8 143866845G> T null L I 2112 2112 missense 0.003 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs751723702 8q24.3 8 143866842G> A null Q * 2113 2113 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782598175 8q24.3 8 143866840C> A null Q H 2113 2113 missense 0.195 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs751723702 8q24.3 8 143866842G> T null Q K 2113 2113 missense 0.015 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782434357 8q24.3 8 143866841T> A null Q L 2113 2113 missense 0.048 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782434357 8q24.3 8 143866841T> C null Q R 2113 2113 missense 0.025 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1441583349 8q24.3 8 143866839G> T null L M 2114 2114 missense 0.981 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782536099 8q24.3 8 143866835A> T null V E 2115 2115 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs892750826 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866836C> G null V L 2115 2115 missense 0.086 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782821082 8q24.3 8 143866832C> T null R K 2116 2116 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781808161 8q24.3 8 143866831C> A null R S 2116 2116 missense 0.0 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782821082 8q24.3 8 143866832C> G null R T 2116 2116 missense 0.025 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1176567985 8q24.3 8 143866828C> A null M I 2117 2117 missense 0.0 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782704141 8q24.3 8 143866830T> G null M L 2117 2117 missense 0.0 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371483954 8q24.3 8 143866829A> C null M R 2117 2117 2.0E-4 missense 0.0 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371483954 8q24.3 8 143866829A> G null M T 2117 2117 2.0E-4 missense 0.0 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1407967351 8q24.3 8 143866827A> G null Y H 2118 2118 missense 0.982 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs369404340 8q24.3 8 143866822T> G null R S 2119 2119 missense 0.04 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs548952593 8q24.3 8 143866823C> G null R T 2119 2119 2.0E-4 missense 0.056 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782318551 8q24.3 8 143866820G> A null T I 2120 2120 missense 0.0 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782318551 8q24.3 8 143866820G> T null T K 2120 2120 missense 0.0 benign 0.84 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1335637347 8q24.3 8 143866818G> C null H D 2121 2121 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1443723570 8q24.3 8 143866814G> T null T N 2122 2122 missense 0.79 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659189 8q24.3 8 143866811C> G null R T 2123 2123 missense 0.0 benign 0.72 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782198653 8q24.3 8 143866808C> T null R Q 2124 2124 missense 0.0 benign 0.62 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs903983896 8q24.3 8 143866809G> A null R W 2124 2124 missense 0.339 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782612655 8q24.3 8 143866806C> G null A P 2125 2125 missense 0.918 probably damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782612655 8q24.3 8 143866806C> A null A S 2125 2125 missense 0.689 possibly damaging 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1203315519 8q24.3 8 143866805G> A null A V 2125 2125 missense 0.057 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs192403981 8q24.3 8 143866798C> G null Q H 2127 2127 2.0E-4 missense 0.195 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs192403981 8q24.3 8 143866798C> A null Q H 2127 2127 2.0E-4 missense 0.195 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs534262901 8q24.3 8 143866799T> C null Q R 2127 2127 2.0E-4 missense 0.0 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs201994568 8q24.3 8 143866796G> A null T M 2128 2128 2.0E-4 missense 0.085 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs201994568 8q24.3 8 143866796G> C null T R 2128 2128 2.0E-4 missense 0.0 benign 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148527079 8q24.3 8 143866791C> G null A P 2130 2130 0.01518 missense 0.134 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148527079 8q24.3 8 143866791C> T null A T 2130 2130 0.01518 missense 0.025 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781845881 8q24.3 8 143866790G> A null A V 2130 2130 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781900013 8q24.3 8 143866786C> G null Q H 2131 2131 missense 0.0 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782114715 8q24.3 8 143866788G> T null Q K 2131 2131 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117882320 8q24.3 8 143866785G> A null L F 2132 2132 9.98E-4 missense 0.027 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1353361804 8q24.3 8 143866784A> C null L R 2132 2132 missense 0.014 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117882320 8q24.3 8 143866785G> C null L V 2132 2132 9.98E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563879042 8q24.3 8 143866782T> G null I L 2133 2133 missense 0.026 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782358127 8q24.3 8 143866781A> T null I N 2133 2133 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs560901238 8q24.3 8 143866778A> C null L * 2134 2134 2.0E-4 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782080570 8q24.3 8 143866779A> T null L I 2134 2134 missense 0.02 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782080570 8q24.3 8 143866779A> C null L V 2134 2134 missense 0.001 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1344090961 8q24.3 8 143866774C> G null E D 2135 2135 missense 0.0 benign 0.53 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed rs376184415 8q24.3 8 143866776C> G null E Q 2135 2135 missense 0.0 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659171 8q24.3 8 143866772A> T null L * 2136 2136 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782332961 8q24.3 8 143866771C> A null L F 2136 2136 missense 0.073 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782332961 8q24.3 8 143866771C> G null L F 2136 2136 missense 0.073 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115688173 8q24.3 8 143866773A> T null L M 2136 2136 0.007788 missense 0.001 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115688173 8q24.3 8 143866773A> C null L V 2136 2136 0.007788 missense 0.003 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs200931316 8q24.3 8 143866768G> C null I M 2137 2137 missense 0.935 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782182522 8q24.3 8 143866769A> T null I N 2137 2137 missense 0.714 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782473994 8q24.3 8 143866767C> T null E K 2138 2138 missense 0.014 benign 0.81 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782473994 8q24.3 8 143866767C> G null E Q 2138 2138 missense 0.059 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112679832 8q24.3 8 143866761G> C null Q E 2140 2140 0.003594 missense 0.001 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373872149 8q24.3 8 143866759C> G null Q H 2140 2140 missense 0.35 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs373872149 8q24.3 8 143866759C> A null Q H 2140 2140 missense 0.35 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659164 8q24.3 8 143866758C> T null E K 2141 2141 missense 0.391 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659164 8q24.3 8 143866758C> G null E Q 2141 2141 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1165769025 8q24.3 8 143866754G> A null T I 2142 2142 missense 0.044 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1165769025 8q24.3 8 143866754G> C null T S 2142 2142 missense 0.015 benign 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116388180 8q24.3 8 143866752T> A null S C 2143 2143 0.01558 missense 0.517 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116388180 8q24.3 8 143866752T> C null S G 2143 2143 0.01558 missense 0.001 benign 0.48 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1023837858 8q24.3 8 143866751C> A null S I 2143 2143 missense 0.055 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1023837858 8q24.3 8 143866751C> G null S T 2143 2143 missense 0.005 benign 0.43 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782120480 8q24.3 8 143866747G> T null N K 2144 2144 missense 0.001 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199984495 8q24.3 8 143866748T> C null N S 2144 2144 2.0E-4 missense 0.0 benign 0.63 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782037614 8q24.3 8 143866746T> C null K E 2145 2145 missense 0.085 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659160 8q24.3 8 143866744T> G null K N 2145 2145 missense 0.013 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782777694 8q24.3 8 143866747_143866790du p null K R 2145 2145 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1299219693 8q24.3 8 143866745T> G null K T 2145 2145 missense 0.124 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659157 8q24.3 8 143866743G> A null H Y 2146 2146 missense 0.0 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782071803 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866740G> T null L M 2147 2147 missense 0.381 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs374472225 8q24.3 8 143866739A> C null L R 2147 2147 missense 0.936 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782071803 8q24.3 8 143866740G> C null L V 2147 2147 missense 0.075 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs117516827 8q24.3 8 143866735C> T null W * 2148 2148 0.001997 stop gained 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs117516827 8q24.3 8 143866735C> A null W C 2148 2148 0.001997 missense 0.906 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs117516827 8q24.3 8 143866735C> G null W C 2148 2148 0.001997 missense 0.906 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659153 8q24.3 8 143866737A> G null W R 2148 2148 missense 0.778 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782214961 8q24.3 8 143866736C> G null W S 2148 2148 missense 0.111 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659150 8q24.3 8 143866733A> G null F S 2149 2149 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs370821527 8q24.3 8 143866731G> C null Q E 2150 2150 missense 0.024 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1554659147 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866730T> C null Q R 2150 2150 missense 0.0 benign 0.7 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659141 8q24.3 8 143866727C> G null G A 2151 2151 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659141 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866727C> T null G E 2151 2151 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782414927 8q24.3 8 143866728C> T null G R 2151 2151 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782414927 8q24.3 8 143866728C> G null G R 2151 2151 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs558239266 8q24.3 8 143866725T> G null I L 2152 2152 missense 0.007 benign 0.82 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782274434 8q24.3 8 143866722T> A null R * 2153 2153 stop gained 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376810341 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 8q24.3 8 143866719G> A null R * 2154 2154 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782661293 8q24.3 8 143866718C> T null R Q 2154 2154 missense 0.015 benign 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs782607368 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866716G> C null Q E 2155 2155 missense 0.173 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782509662 8q24.3 8 143866714C> G null Q H 2155 2155 missense 0.062 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782509662 8q24.3 8 143866714C> A null Q H 2155 2155 missense 0.062 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs571660447 8q24.3 8 143866715T> C null Q R 2155 2155 missense 0.308 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs375091224 8q24.3 8 143866712A> T null I N 2156 2156 missense 0.814 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs375091224 8q24.3 8 143866712A> G null I T 2156 2156 missense 0.242 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659137 8q24.3 8 143866713T> C null I V 2156 2156 missense 0.003 benign 0.71 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782539143 8q24.3 8 143866710T> C null T A 2157 2157 missense 0.32 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782539143 8q24.3 8 143866710T> G null T P 2157 2157 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781809715 8q24.3 8 143866707C> T null A T 2158 2158 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1241139498 8q24.3 8 143866698G> T null L I 2161 2161 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142954969 8q24.3 8 143866695G> A null L F 2162 2162 0.01458 missense 0.003 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1184939046 8q24.3 8 143866694A> T null L H 2162 2162 missense 0.011 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659127 8q24.3 8 143866691C> G null S T 2163 2163 missense 0.003 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782797725 8q24.3 8 143866688G> C null S * 2164 2164 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782797725 8q24.3 8 143866688G> A null S L 2164 2164 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781956238 8q24.3 8 143866689A> T null S T 2164 2164 missense 0.186 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659120 8q24.3 8 143866685G> T null A D 2165 2165 missense 0.003 benign 0.74 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs551767320 8q24.3 8 143866686C> T null A T 2165 2165 missense 0.003 benign 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782011984 8q24.3 8 143866681T> C null I M 2166 2166 missense 0.859 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,TOPMed,gnomAD rs782320865 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866676G> A null T M 2168 2168 missense 0.648 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659114 8q24.3 8 143866672C> G null E D 2169 2169 missense 0.116 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs373277814 8q24.3 8 143866673T> C null E G 2169 2169 missense 0.167 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782336547 8q24.3 8 143866674C> T null E K 2169 2169 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782438075 8q24.3 8 143866667A> G null M T 2171 2171 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200828547 8q24.3 8 143866668T> C null M V 2171 2171 missense 0.009 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782283484 8q24.3 8 143866664A> T null L H 2172 2172 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782283484 8q24.3 8 143866664A> G null L P 2172 2172 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs377745715 8q24.3 8 143866660C> G null Q H 2173 2173 missense 0.115 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659109 8q24.3 8 143866657G> C null D E 2174 2174 missense 0.006 benign 0.86 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs781845353 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866659C> T null D N 2174 2174 missense 0.3 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659105 8q24.3 8 143866651T> G null E D 2176 2176 missense 0.019 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659107 8q24.3 8 143866653C> G null E Q 2176 2176 missense 0.003 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs559664622 8q24.3 8 143866649G> T null T K 2177 2177 2.0E-4 missense 0.0 benign 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs559664622 8q24.3 8 143866649G> A null T M 2177 2177 2.0E-4 missense 0.365 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs559664622 8q24.3 8 143866649G> C null T R 2177 2177 2.0E-4 missense 0.0 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed rs566710281 8q24.3 8 143866643C> A null R L 2179 2179 3.99E-4 missense 0.066 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed rs566710281 8q24.3 8 143866643C> G null R P 2179 2179 3.99E-4 missense 0.224 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed rs566710281 8q24.3 8 143866643C> T null R Q 2179 2179 3.99E-4 missense 0.003 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,NCI-TCGA,TOPMed rs370047268 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866644G> A null R W 2179 2179 missense 0.533 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782083273 8q24.3 8 143866641T> C null S G 2180 2180 missense 0.122 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs781996350 8q24.3 8 143866640C> T null S N 2180 2180 missense 0.174 benign 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs375639727 8q24.3 8 143866639G> T null S R 2180 2180 missense 0.003 benign 0.48 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs781996350 8q24.3 8 143866640C> G null S T 2180 2180 missense 0.01 benign 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782021447 8q24.3 8 143866638T> C null T A 2181 2181 missense 0.953 probably damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782625051 8q24.3 8 143866637G> T null T K 2181 2181 missense 0.988 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782625051 8q24.3 8 143866637G> A null T M 2181 2181 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782021447 8q24.3 8 143866638T> G null T P 2181 2181 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782625051 8q24.3 8 143866637G> C null T R 2181 2181 missense 0.993 probably damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs183595356 8q24.3 8 143866634G> T null T K 2182 2182 3.99E-4 missense 0.029 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs183595356 8q24.3 8 143866634G> A null T M 2182 2182 3.99E-4 missense 0.007 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782630329 8q24.3 8 143866635T> G null T P 2182 2182 missense 0.0 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1225040159 8q24.3 8 143866632G> A null Q * 2183 2183 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC rs781855970 8q24.3 8 143866631_143866632insAG T null Q H* 2183 2183 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1225040159 8q24.3 8 143866632G> T null Q K 2183 2183 missense 0.121 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563878559 8q24.3 8 143866631T> G null Q P 2183 2183 missense 0.563 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554659085 8q24.3 8 143866628T> G null E A 2184 2184 missense 0.015 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs782479222 8q24.3 8 143866627C> G null E D 2184 2184 missense 0.0 benign 0.62 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782572227 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866629C> T null E K 2184 2184 missense 0.047 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782572227 8q24.3 8 143866629C> G null E Q 2184 2184 missense 0.001 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782779768 8q24.3 8 143866626G> A null L F 2185 2185 missense 0.316 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1195879401 8q24.3 8 143866625A> T null L H 2185 2185 missense 0.724 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1195879401 8q24.3 8 143866625A> C null L R 2185 2185 missense 0.568 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782779768 8q24.3 8 143866626G> C null L V 2185 2185 missense 0.001 benign 0.64 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782790722 8q24.3 8 143866623T> G null M L 2186 2186 missense 0.0 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,NCI-TCGA,gnomAD rs782069104 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866622A> G null M T 2186 2186 missense 0.0 benign 0.63 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782790722 8q24.3 8 143866623T> C null M V 2186 2186 missense 0.0 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs569459584 8q24.3 8 143866618C> G null E D 2187 2187 2.0E-4 missense 0.003 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs781922272 8q24.3 8 143866620C> T null E K 2187 2187 missense 0.006 benign 0.74 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs563449577 8q24.3 8 143866615G> C null D E 2188 2188 2.0E-4 missense 0.01 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs563449577 8q24.3 8 143866615G> T null D E 2188 2188 2.0E-4 missense 0.01 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs868984221 8q24.3 8 143866615_143866617delinsCA T null D M 2188 2188 missense 0.0 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782090635 8q24.3 8 143866617C> T null D N 2188 2188 missense 0.005 benign 0.52 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1554659068 8q24.3 8 143866616T> A null D V 2188 2188 missense 0.0 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782090635 8q24.3 8 143866617C> A null D Y 2188 2188 missense 0.178 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs762120294 8q24.3 8 143866614C> T null D N 2189 2189 missense 0.313 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed rs11781942 8q24.3 8 143866611G> A null R C 2190 2190 0.07947 missense 0.341 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs191805316 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866610C> T null R H 2190 2190 missense 0.185 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs868934754 8q24.3 8 143866609_143866610delinsC G null R P 2190 2190 missense 0.146 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs191805316 8q24.3 8 143866610C> G null R P 2190 2190 missense 0.146 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed rs11781942 8q24.3 8 143866611G> T null R S 2190 2190 0.07947 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563878438 8q24.3 8 143866609_143866611delinsCG A null R S 2190 2190 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1307338641 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866608C> T null V I 2191 2191 missense 0.01 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1307338641 8q24.3 8 143866608C> G null V L 2191 2191 missense 0.114 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1345976547 8q24.3 8 143866601C> T null R H 2193 2193 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1281067747 8q24.3 8 143866589C> T null G D 2197 2197 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1281067747 8q24.3 8 143866589C> A null G V 2197 2197 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1322437979 8q24.3 8 143866587T> C null T A 2198 2198 missense 0.646 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1227636060 8q24.3 8 143866586G> T null T N 2198 2198 missense 0.864 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1195794432 8q24.3 8 143866577A> G null I T 2201 2201 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1197715969 8q24.3 8 143866575C> A null A S 2202 2202 missense 0.951 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1197715969 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 143866575C> T null A T 2202 2202 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1268567483 8q24.3 8 143866574G> A null A V 2202 2202 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1172768887 8q24.3 8 143866571C> T null G D 2203 2203 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1461533877 8q24.3 8 143866569C> A null V F 2204 2204 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1461533877 8q24.3 8 143866569C> T null V I 2204 2204 missense 0.023 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1406653276 8q24.3 8 143866556G> T null A D 2208 2208 missense 0.361 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1366122751 8q24.3 8 143866557C> T null A T 2208 2208 missense 0.019 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563878375 8q24.3 8 143866551C> T null D N 2210 2210 missense 0.012 benign 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1382474534 8q24.3 8 143866542C> T null G S 2213 2213 missense 0.015 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1297267907 8q24.3 8 143866539G> A null R C 2214 2214 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1226069468 8q24.3 8 143866538C> T null R H 2214 2214 missense 0.897 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1226069468 8q24.3 8 143866538C> A null R L 2214 2214 missense 0.767 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1362258047 8q24.3 8 143866530T> C null K E 2217 2217 missense 0.679 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1291561915 8q24.3 8 143866517T> C null Y C 2221 2221 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1486397987 8q24.3 8 143866515G> A null Q * 2222 2222 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1259933264 8q24.3 8 143866508A> G null M T 2224 2224 missense 0.886 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1428073398 8q24.3 8 143866499C> G null G A 2227 2227 missense 0.811 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1426526429 8q24.3 8 143866497C> G null V L 2228 2228 missense 0.005 benign 0.48 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1426526429 8q24.3 8 143866497C> T null V M 2228 2228 missense 0.522 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1454108577 8q24.3 8 143866490C> T null R Q 2230 2230 missense 0.944 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1349155021 8q24.3 8 143866491G> A null R W 2230 2230 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1382325418 8q24.3 8 143866485C> T null G S 2232 2232 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1433846843 8q24.3 8 143866481G> A null T M 2233 2233 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1384329446 8q24.3 8 143866479C> A null A S 2234 2234 missense 0.315 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1312620816 8q24.3 8 143866473C> T null V M 2236 2236 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1204519232 8q24.3 8 143866454G> T null A E 2242 2242 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1204519232 8q24.3 8 143866454G> A null A V 2242 2242 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1181738485 8q24.3 8 143866446C> T null G S 2245 2245 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1419529631 8q24.3 8 143866439A> G null V A 2247 2247 missense 0.654 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1412991257 8q24.3 8 143866440C> T null V I 2247 2247 missense 0.04 benign 0.88 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1456417770 8q24.3 8 143866432G> T null D E 2249 2249 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1343162878 8q24.3 8 143866434C> T null D N 2249 2249 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1449856625 8q24.3 8 143866428C> T null V M 2251 2251 missense 0.763 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1301682926 8q24.3 8 143866425G> A null R C 2252 2252 missense 0.533 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1374738288 8q24.3 8 143866424C> T null R H 2252 2252 missense 0.005 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1225928030 8q24.3 8 143866413G> T null L M 2256 2256 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1305377303 8q24.3 8 143866412A> G null L P 2256 2256 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1328870794 8q24.3 8 143866409G> A null S L 2257 2257 missense 0.818 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1460103608 8q24.3 8 143866404C> T null E K 2259 2259 missense 0.899 possibly damaging 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1209505917 8q24.3 8 143866400T> G null E A 2260 2260 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1178850981 8q24.3 8 143866395C> T null V M 2262 2262 missense 0.992 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1472137024 8q24.3 8 143866389C> T null A T 2264 2264 missense 0.614 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1176820628 8q24.3 8 143866388G> A null A V 2264 2264 missense 0.614 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1174772692 8q24.3 8 143866383C> T null V M 2266 2266 missense 0.904 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1445039871 8q24.3 8 143866374C> T null G S 2269 2269 missense 0.928 probably damaging 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1285508671 8q24.3 8 143866369C> G null E D 2270 2270 missense 0.982 probably damaging 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1405947322 8q24.3 8 143866371C> T null E K 2270 2270 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1218817296 8q24.3 8 143866349G> A null S L 2277 2277 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1249550277 8q24.3 8 143866344C> T null E K 2279 2279 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1482652136 8q24.3 8 143866341G> A null R C 2280 2280 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1199922400 8q24.3 8 143866340C> T null R H 2280 2280 missense 0.962 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1479280895 8q24.3 8 143866338C> T null A T 2281 2281 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1419693931 8q24.3 8 143866335C> T null V I 2282 2282 missense 0.993 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1167631358 8q24.3 8 143866331G> C null T S 2283 2283 missense 0.989 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1425799132 8q24.3 8 143866329C> T null G S 2284 2284 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1344000711 8q24.3 8 143866316G> T null P H 2288 2288 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1436074776 8q24.3 8 143866311T> C null T A 2290 2290 missense 0.212 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1364281326 8q24.3 8 143866308C> T null G R 2291 2291 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1341396638 8q24.3 8 143866297G> C null I M 2294 2294 missense 0.988 probably damaging 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1273960887 8q24.3 8 143866299T> C null I V 2294 2294 missense 0.283 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1223107995 8q24.3 8 143866296A> G null S P 2295 2295 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1449648616 8q24.3 8 143866289A> C null F C 2297 2297 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1476151480 8q24.3 8 143866263C> T null V I 2306 2306 missense 0.125 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1388957336 8q24.3 8 143866259C> T null R Q 2307 2307 missense 0.52 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1186153904 8q24.3 8 143866260G> A null R W 2307 2307 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1364163455 8q24.3 8 143866251C> T null G S 2310 2310 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1405157699 8q24.3 8 143866245G> A null R C 2312 2312 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1319318279 8q24.3 8 143866244C> T null R H 2312 2312 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1347214563 8q24.3 8 143866232G> A null A V 2316 2316 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1297024141 8q24.3 8 143866220G> A null T M 2320 2320 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1246709341 8q24.3 8 143866218C> T null G S 2321 2321 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1354095837 8q24.3 8 143866212C> T null V I 2323 2323 missense 0.006 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1284647485 8q24.3 8 143866206C> T null D N 2325 2325 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1448388778 8q24.3 8 143866200C> T null V M 2327 2327 missense 0.992 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1206410800 8q24.3 8 143866194T> C null S G 2329 2329 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1246921783 8q24.3 8 143866187C> T null R H 2331 2331 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1367244581 8q24.3 8 143866179C> T null V M 2334 2334 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1472736384 8q24.3 8 143866166T> C null Y C 2338 2338 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1159532245 8q24.3 8 143866161G> A null R C 2340 2340 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1410595815 8q24.3 8 143866160C> T null R H 2340 2340 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1334700476 8q24.3 8 143866134G> A null R C 2349 2349 missense 0.862 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1279972679 8q24.3 8 143866122C> G null D H 2353 2353 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1226261356 8q24.3 8 143866113C> T null D N 2356 2356 missense 0.999 probably damaging 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1461438565 8q24.3 8 143866110C> T null D N 2357 2357 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1253403123 8q24.3 8 143866092C> T null D N 2363 2363 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1442403340 8q24.3 8 143866073T> C null N S 2369 2369 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1235031630 8q24.3 8 143866047G> A null R C 2378 2378 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1471808930 8q24.3 8 143866046C> T null R H 2378 2378 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1430246082 8q24.3 8 143866014T> C null M V 2389 2389 missense 0.0 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1170913130 8q24.3 8 143865947C> T null R H 2411 2411 missense 0.815 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1395424797 8q24.3 8 143865945C> T null D N 2412 2412 missense 0.187 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1407771850 8q24.3 8 143865900C> T null V I 2427 2427 missense 0.104 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1287445928 8q24.3 8 143865855G> A null R W 2442 2442 missense 0.927 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1323838304 8q24.3 8 143865827C> T null R Q 2451 2451 missense 0.049 benign 0.34 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1224948221 8q24.3 8 143865824G> A null A V 2452 2452 missense 0.518 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1343673982 8q24.3 8 143865818G> A null T M 2454 2454 missense 0.643 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1196946432 8q24.3 8 143865815A> C null L R 2455 2455 missense 0.043 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1275735563 8q24.3 8 143865810C> T null V M 2457 2457 missense 0.567 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1181943462 8q24.3 8 143865782G> A null S L 2466 2466 missense 0.054 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1196985148 8q24.3 8 143865752C> T null R Q 2476 2476 missense 0.514 possibly damaging 0.64 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1269983859 8q24.3 8 143865753G> A null R W 2476 2476 missense 0.883 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1462548893 8q24.3 8 143865735C> T null G R 2482 2482 missense 0.98 probably damaging 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1169660428 8q24.3 8 143865728G> A null P L 2484 2484 missense 0.774 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1427688323 8q24.3 8 143865726G> A null R C 2485 2485 missense 0.533 possibly damaging 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1427688323 8q24.3 8 143865726G> C null R G 2485 2485 missense 0.062 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1307235650 8q24.3 8 143865725C> T null R H 2485 2485 missense 0.36 benign 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1345882883 8q24.3 8 143865718G> T null D E 2487 2487 missense 0.631 possibly damaging 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1298726311 8q24.3 8 143865713C> T null R Q 2489 2489 missense 0.007 benign 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1227523171 8q24.3 8 143865701C> T null R H 2493 2493 missense 0.65 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1340686173 8q24.3 8 143865666G> A null R W 2505 2505 missense 0.928 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1205044285 8q24.3 8 143865660G> A null R C 2507 2507 missense 0.643 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1293008701 8q24.3 8 143865656G> A null A V 2508 2508 missense 0.691 possibly damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1429299527 8q24.3 8 143865639C> T null V M 2514 2514 missense 0.664 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1195449250 8q24.3 8 143865632G> A null A V 2516 2516 missense 0.187 benign 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1167882406 8q24.3 8 143865627C> T null G S 2518 2518 missense 0.104 benign 0.84 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1366029197 8q24.3 8 143865621C> T null V M 2520 2520 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1459262386 8q24.3 8 143865615T> C null R G 2522 2522 missense 0.005 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1299231301 8q24.3 8 143865605C> T null R Q 2525 2525 missense 0.456 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1382386904 8q24.3 8 143865606G> A null R W 2525 2525 missense 0.896 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1243112391 8q24.3 8 143865584A> G null F S 2532 2532 missense 0.086 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1464492775 8q24.3 8 143865557G> A null A V 2541 2541 missense 0.143 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1385794392 8q24.3 8 143865549G> A null R C 2544 2544 missense 0.928 probably damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1425443242 8q24.3 8 143865548C> T null R H 2544 2544 missense 0.029 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1367649668 8q24.3 8 143865545C> T null R Q 2545 2545 missense 0.272 benign 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1162455208 8q24.3 8 143865546G> A null R W 2545 2545 missense 0.896 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1322131928 8q24.3 8 143865534T> C null I V 2549 2549 missense 0.199 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1433727738 8q24.3 8 143865528C> T null E K 2551 2551 missense 0.461 possibly damaging 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1336738650 8q24.3 8 143865519C> T null E K 2554 2554 missense 0.009 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1381997523 8q24.3 8 143865515T> C null E G 2555 2555 missense 0.946 probably damaging 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1230531785 8q24.3 8 143865507C> T null G R 2558 2558 missense 0.639 possibly damaging 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1266488853 8q24.3 8 143865504C> T null A T 2559 2559 missense 0.455 possibly damaging 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1328674407 8q24.3 8 143865501G> A null R W 2560 2560 missense 0.842 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1204417884 8q24.3 8 143865497G> A null P L 2561 2561 missense 0.355 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1255293734 8q24.3 8 143865483C> A null A S 2566 2566 missense 0.015 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1255293734 8q24.3 8 143865483C> T null A T 2566 2566 missense 0.106 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1419439066 8q24.3 8 143865482G> A null A V 2566 2566 missense 0.27 benign 0.34 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1456336490 8q24.3 8 143865478C> T null W * 2567 2567 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1456336490 8q24.3 8 143865478C> G null W C 2567 2567 missense 0.344 benign 0.2 tolerated - low confidence 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1176589966 8q24.3 8 143865477G> A null R C 2568 2568 missense 0.883 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1446549548 8q24.3 8 143865476C> T null R H 2568 2568 missense 0.848 possibly damaging 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1446549548 8q24.3 8 143865476C> A null R L 2568 2568 missense 0.514 possibly damaging 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1374618945 8q24.3 8 143865474C> T null G S 2569 2569 missense 0.934 probably damaging 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1412072671 8q24.3 8 143865470G> A null P L 2570 2570 missense 0.856 possibly damaging 0.33 tolerated - low confidence 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1224330307 8q24.3 8 143865467C> T null R Q 2571 2571 missense 0.138 benign 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1350121675 8q24.3 8 143865468G> A null R W 2571 2571 missense 0.714 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1208005164 8q24.3 8 143865456G> A null P S 2575 2575 missense 0.124 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1255354073 8q24.3 8 143865452G> C null A G 2576 2576 missense 0.355 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1184114619 8q24.3 8 143865447G> A null R * 2578 2578 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1184114619 8q24.3 8 143865447G> C null R G 2578 2578 missense 0.173 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1249322858 8q24.3 8 143865446C> T null R Q 2578 2578 missense 0.254 benign 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1472084560 8q24.3 8 143865444C> T null G R 2579 2579 missense 0.639 possibly damaging 0.36 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1199692240 8q24.3 8 143865440T> G null D A 2580 2580 missense 0.009 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1174669945 8q24.3 8 143865435C> T null D N 2582 2582 missense 0.254 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1432111897 8q24.3 8 143865431G> A null S L 2583 2583 missense 0.36 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1355661609 8q24.3 8 143865432A> T null S T 2583 2583 missense 0.36 benign 0.61 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1276814209 8q24.3 8 143865426G> A null R C 2585 2585 missense 0.643 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1296337559 8q24.3 8 143865425C> T null R H 2585 2585 missense 0.545 possibly damaging 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1296337559 8q24.3 8 143865425C> A null R L 2585 2585 missense 0.124 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1296337559 8q24.3 8 143865425C> G null R P 2585 2585 missense 0.254 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1207176793 8q24.3 8 143865417G> A null R * 2588 2588 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1272294296 8q24.3 8 143865416C> T null R Q 2588 2588 missense 0.254 benign 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1482598819 8q24.3 8 143865411C> T null G S 2590 2590 missense 0.48 possibly damaging 0.69 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1221960582 8q24.3 8 143865406C> G null Q H 2591 2591 missense 0.545 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1419579716 8q24.3 8 143865396C> T null E K 2595 2595 missense 0.553 possibly damaging 0.76 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1451920318 8q24.3 8 143865393T> C null T A 2596 2596 missense 0.009 benign 0.76 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1348389404 8q24.3 8 143865380G> C null A G 2600 2600 missense 0.578 possibly damaging 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1325866135 8q24.3 8 143865381C> T null A T 2600 2600 missense 0.691 possibly damaging 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1435964883 8q24.3 8 143865378C> T null A T 2601 2601 missense 0.691 possibly damaging 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1295334139 8q24.3 8 143865375C> G null A P 2602 2602 missense 0.826 possibly damaging 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1295334139 8q24.3 8 143865375C> T null A T 2602 2602 missense 0.691 possibly damaging 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1228709853 8q24.3 8 143865372C> T null A T 2603 2603 missense 0.691 possibly damaging 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1220331516 8q24.3 8 143865366C> T null A T 2605 2605 missense 0.691 possibly damaging 0.51 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1473388127 8q24.3 8 143865360C> G null A P 2607 2607 missense 0.826 possibly damaging 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1473388127 8q24.3 8 143865360C> T null A T 2607 2607 missense 0.691 possibly damaging 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1432999819 8q24.3 8 143865357C> A null A S 2608 2608 missense 0.27 benign 0.48 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1432999819 8q24.3 8 143865357C> T null A T 2608 2608 missense 0.27 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1268380930 8q24.3 8 143865353C> T null R H 2609 2609 missense 0.459 possibly damaging 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1364404305 8q24.3 8 143865354G> T null R S 2609 2609 missense 0.141 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1246822078 8q24.3 8 143865350C> A null R L 2610 2610 missense 0.195 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1246822078 8q24.3 8 143865350C> G null R P 2610 2610 missense 0.27 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1330692138 8q24.3 8 143865351G> T null R S 2610 2610 missense 0.141 benign 0.64 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1443547436 8q24.3 8 143865348G> A null Q * 2611 2611 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1190218842 8q24.3 8 143865347T> C null Q R 2611 2611 missense 0.151 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1472683735 8q24.3 8 143865342G> C null Q E 2613 2613 missense 0.039 benign 0.96 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1414509865 8q24.3 8 143865338G> A null T I 2614 2614 missense 0.63 possibly damaging 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1414509865 8q24.3 8 143865338G> T null T N 2614 2614 missense 0.722 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1455799063 8q24.3 8 143865336G> C null L V 2615 2615 missense 0.562 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1406876746 8q24.3 8 143865333G> A null R C 2616 2616 missense 0.982 probably damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1415033920 8q24.3 8 143865332C> T null R H 2616 2616 missense 0.949 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1336074053 8q24.3 8 143865327C> T null A T 2618 2618 missense 0.325 benign 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1338567528 8q24.3 8 143865312G> A null Q * 2623 2623 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1288703219 8q24.3 8 143865309G> A null R C 2624 2624 missense 0.919 probably damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1351973299 8q24.3 8 143865308C> T null R H 2624 2624 missense 0.117 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1267013922 8q24.3 8 143865306C> T null G R 2625 2625 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1277125711 8q24.3 8 143865299A> G null F S 2627 2627 missense 0.889 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1442312474 8q24.3 8 143865294C> T null G R 2629 2629 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1471758486 8q24.3 8 143865290C> T null R Q 2630 2630 missense 0.056 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1254396954 8q24.3 8 143865291G> A null R W 2630 2630 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1181720222 8q24.3 8 143865287G> A null P L 2631 2631 missense 0.594 possibly damaging 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1479054779 8q24.3 8 143865285C> G null V L 2632 2632 missense 0.117 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1433970347 8q24.3 8 143865278A> G null V A 2634 2634 missense 0.97 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1400017687 8q24.3 8 143865279C> T null V M 2634 2634 missense 0.953 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1372142908 8q24.3 8 143865270C> T null V I 2637 2637 missense 0.468 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1287339125 8q24.3 8 143865267G> A null L F 2638 2638 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1331259650 8q24.3 8 143865263A> G null F S 2639 2639 missense 0.392 benign 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1272526840 8q24.3 8 143865257G> A null S L 2641 2641 missense 0.889 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1204810493 8q24.3 8 143865240G> A null R C 2647 2647 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1268319662 8q24.3 8 143865239C> T null R H 2647 2647 missense 0.262 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1435085972 8q24.3 8 143865237G> A null R * 2648 2648 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1196872233 8q24.3 8 143865236C> T null R Q 2648 2648 missense 0.365 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1391876929 8q24.3 8 143865229C> G null E D 2650 2650 missense 0.663 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1391876929 8q24.3 8 143865229C> A null E D 2650 2650 missense 0.663 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1391035685 8q24.3 8 143865213C> T null A T 2656 2656 missense 0.777 possibly damaging 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1388130862 8q24.3 8 143865212G> A null A V 2656 2656 missense 0.63 possibly damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1229855533 8q24.3 8 143865207C> T null G S 2658 2658 missense 0.781 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1340574564 8q24.3 8 143865200A> G null L P 2660 2660 missense 0.881 possibly damaging 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1266351817 8q24.3 8 143865189C> T null D N 2664 2664 missense 0.569 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1489615932 8q24.3 8 143865186G> T null L I 2665 2665 missense 0.67 possibly damaging 0.79 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1266846041 8q24.3 8 143865183C> T null V I 2666 2666 missense 0.72 possibly damaging 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1465412236 8q24.3 8 143865180C> T null A T 2667 2667 missense 0.117 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1447530765 8q24.3 8 143865177C> T null V I 2668 2668 missense 0.165 benign 0.87 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1368799414 8q24.3 8 143865167C> T null R Q 2671 2671 missense 0.056 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1169546203 8q24.3 8 143865168G> A null R W 2671 2671 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1459186197 8q24.3 8 143865164A> G null V A 2672 2672 missense 0.137 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1393200273 8q24.3 8 143865158T> G null E A 2674 2674 missense 0.113 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1321919457 8q24.3 8 143865154C> G null E D 2675 2675 missense 0.073 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1242995247 8q24.3 8 143865150C> T null E K 2677 2677 missense 0.669 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1330043846 8q24.3 8 143865143C> T null R Q 2679 2679 missense 0.683 possibly damaging 0.99 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1246244453 8q24.3 8 143865133C> G null K N 2682 2682 missense 0.683 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1463521708 8q24.3 8 143865129A> T null S T 2684 2684 missense 0.459 possibly damaging 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1185859071 8q24.3 8 143865123G> A null R C 2686 2686 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1256672536 8q24.3 8 143865122C> T null R H 2686 2686 missense 0.949 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1416753877 8q24.3 8 143865117G> T null L M 2688 2688 missense 0.965 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1160806708 8q24.3 8 143865111G> A null R C 2690 2690 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1385767391 8q24.3 8 143865110C> T null R H 2690 2690 missense 0.158 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1453758937 8q24.3 8 143865102A> T null S T 2693 2693 missense 0.125 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1394686387 8q24.3 8 143865099C> T null A T 2694 2694 missense 0.924 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1351391096 8q24.3 8 143865083G> A null T M 2699 2699 missense 0.919 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1316402913 8q24.3 8 143865063C> T null E K 2706 2706 missense 0.177 benign 0.76 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1484169522 8q24.3 8 143865053C> T null R Q 2709 2709 missense 0.204 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1256517054 8q24.3 8 143865054G> A null R W 2709 2709 missense 0.117 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1256512527 8q24.3 8 143865042G> A null Q * 2713 2713 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1472736706 8q24.3 8 143865038C> T null G D 2714 2714 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1183891704 8q24.3 8 143865029G> A null T M 2717 2717 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1418004828 8q24.3 8 143865014G> A null T M 2722 2722 missense 0.302 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1176109167 8q24.3 8 143865008A> C null M R 2724 2724 missense 0.392 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1361430130 8q24.3 8 143865006C> T null D N 2725 2725 missense 0.777 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1464966365 8q24.3 8 143865002G> A null S L 2726 2726 missense 0.068 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1312698127 8q24.3 8 143865000C> T null V I 2727 2727 missense 0.205 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1371556590 8q24.3 8 143864994G> A null R C 2729 2729 missense 0.833 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1411975214 8q24.3 8 143864993C> T null R H 2729 2729 missense 0.711 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1303435529 8q24.3 8 143864961C> T null V I 2740 2740 missense 0.205 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1208599141 8q24.3 8 143864955C> G null V L 2742 2742 missense 0.043 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1483252462 8q24.3 8 143864952G> A null P S 2743 2743 missense 0.81 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1206958424 8q24.3 8 143864949C> T null A T 2744 2744 missense 0.14 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1249206792 8q24.3 8 143864934C> T null G S 2749 2749 missense 0.038 benign 0.8 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1480079535 8q24.3 8 143864933C> A null G V 2749 2749 missense 0.694 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1191318431 8q24.3 8 143864931G> A null R C 2750 2750 missense 0.627 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1432017335 8q24.3 8 143864930C> T null R H 2750 2750 missense 0.001 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1432017335 8q24.3 8 143864930C> A null R L 2750 2750 missense 0.097 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1391267638 8q24.3 8 143864915C> G null S T 2755 2755 missense 0.302 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1432026829 8q24.3 8 143864912A> C null I S 2756 2756 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1354183358 8q24.3 8 143864910A> C null Y D 2757 2757 missense 0.817 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1365572647 8q24.3 8 143864885A> G null L P 2765 2765 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1232065927 8q24.3 8 143864882C> T null R Q 2766 2766 missense 0.231 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1270598390 8q24.3 8 143864876C> T null G D 2768 2768 missense 0.953 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1230366443 8q24.3 8 143864877C> T null G S 2768 2768 missense 0.898 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1306603509 8q24.3 8 143864873G> A null T M 2769 2769 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1466763620 8q24.3 8 143864852G> A null A V 2776 2776 missense 0.525 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1192392986 8q24.3 8 143864847C> T null A T 2778 2778 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1451823020 8q24.3 8 143864843G> A null A V 2779 2779 missense 0.525 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1419210367 8q24.3 8 143864838C> T null G S 2781 2781 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1167158441 8q24.3 8 143864832C> T null V I 2783 2783 missense 0.015 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1348297510 8q24.3 8 143864826C> T null D N 2785 2785 missense 0.713 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1365903379 8q24.3 8 143864820C> T null V M 2787 2787 missense 0.6 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1268271494 8q24.3 8 143864817G> A null R C 2788 2788 missense 0.436 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1338492599 8q24.3 8 143864810A> G null L P 2790 2790 missense 0.341 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1291589152 8q24.3 8 143864792T> G null E A 2796 2796 missense 0.471 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1228619269 8q24.3 8 143864793C> T null E K 2796 2796 missense 0.381 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1332171866 8q24.3 8 143864790C> A null A S 2797 2797 missense 0.527 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1268179587 8q24.3 8 143864787C> T null V M 2798 2798 missense 0.788 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1191655320 8q24.3 8 143864780G> A null A V 2800 2800 missense 0.199 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1473337546 8q24.3 8 143864775C> T null V M 2802 2802 missense 0.788 possibly damaging 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1160052434 8q24.3 8 143864763C> T null E K 2806 2806 missense 0.381 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1390922103 8q24.3 8 143864741G> A null S L 2813 2813 missense 0.518 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1325721000 8q24.3 8 143864732C> T null R H 2816 2816 missense 0.498 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1285683034 8q24.3 8 143864730C> T null A T 2817 2817 missense 0.723 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1232266423 8q24.3 8 143864727C> T null V I 2818 2818 missense 0.12 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1202794688 8q24.3 8 143864721C> T null G S 2820 2820 missense 0.971 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1284186139 8q24.3 8 143864715T> C null T A 2822 2822 missense 0.398 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1212742083 8q24.3 8 143864712C> T null D N 2823 2823 missense 0.814 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1475040718 8q24.3 8 143864708G> T null P H 2824 2824 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1475040718 8q24.3 8 143864708G> A null P L 2824 2824 missense 0.858 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1414385821 8q24.3 8 143864700C> T null G R 2827 2827 missense 0.98 probably damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1158021795 8q24.3 8 143864689G> C null I M 2830 2830 missense 0.625 possibly damaging 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1384186651 8q24.3 8 143864681A> G null F S 2833 2833 missense 0.787 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1335984052 8q24.3 8 143864678T> C null Q R 2834 2834 missense 0.1 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1373392846 8q24.3 8 143864672A> G null M T 2836 2836 missense 0.27 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1308277226 8q24.3 8 143864664C> T null D N 2839 2839 missense 0.737 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1351879978 8q24.3 8 143864661G> A null L F 2840 2840 missense 0.579 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1346373658 8q24.3 8 143864654A> G null V A 2842 2842 missense 0.302 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1278707755 8q24.3 8 143864651C> T null R Q 2843 2843 missense 0.412 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1221431189 8q24.3 8 143864652G> A null R W 2843 2843 missense 0.833 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1206226971 8q24.3 8 143864643C> T null G S 2846 2846 missense 0.222 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1254279742 8q24.3 8 143864637G> A null R C 2848 2848 missense 0.908 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1181247669 8q24.3 8 143864636C> T null R H 2848 2848 missense 0.686 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1181247669 8q24.3 8 143864636C> A null R L 2848 2848 missense 0.276 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1175427196 8q24.3 8 143864624G> A null A V 2852 2852 missense 0.525 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1393134018 8q24.3 8 143864621T> C null Q R 2853 2853 missense 0.775 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1433876108 8q24.3 8 143864619T> C null I V 2854 2854 missense 0.011 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1398212345 8q24.3 8 143864616C> T null A T 2855 2855 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1389290973 8q24.3 8 143864612G> A null T M 2856 2856 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1437913598 8q24.3 8 143864607C> T null G S 2858 2858 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1229627168 8q24.3 8 143864598C> T null D N 2861 2861 missense 0.814 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1277180760 8q24.3 8 143864594G> C null P R 2862 2862 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1195442692 8q24.3 8 143864579C> T null R H 2867 2867 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1191753465 8q24.3 8 143864571C> T null V M 2870 2870 missense 0.6 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1251097269 8q24.3 8 143864568C> G null D H 2871 2871 missense 0.676 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1374578688 8q24.3 8 143864553G> A null R C 2876 2876 missense 0.818 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1166975071 8q24.3 8 143864552C> T null R H 2876 2876 missense 0.498 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1166975071 8q24.3 8 143864552C> G null R P 2876 2876 missense 0.491 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1323246617 8q24.3 8 143864549C> T null G D 2877 2877 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1436426798 8q24.3 8 143864542G> C null F L 2879 2879 missense 0.404 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1227080000 8q24.3 8 143864539G> C null D E 2880 2880 missense 0.631 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1298278903 8q24.3 8 143864541C> T null D N 2880 2880 missense 0.737 possibly damaging 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1266268906 8q24.3 8 143864538C> G null E Q 2881 2881 missense 0.394 benign 0.78 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1211927292 8q24.3 8 143864525C> T null R H 2885 2885 missense 0.711 possibly damaging 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1468030400 8q24.3 8 143864523C> T null V I 2886 2886 missense 0.205 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1426521866 8q24.3 8 143864516G> T null A D 2888 2888 missense 0.826 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1263690121 8q24.3 8 143864517C> T null A T 2888 2888 missense 0.691 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1462669443 8q24.3 8 143864514C> G null D H 2889 2889 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1162215425 8q24.3 8 143864513T> A null D V 2889 2889 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1393095591 8q24.3 8 143864505C> T null D N 2892 2892 missense 0.53 possibly damaging 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1291161335 8q24.3 8 143864502C> T null D N 2893 2893 missense 0.53 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1383355412 8q24.3 8 143864493C> A null G C 2896 2896 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1313822291 8q24.3 8 143864488G> T null F L 2897 2897 missense 0.404 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1292809599 8q24.3 8 143864482G> T null D E 2899 2899 missense 0.476 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1231682114 8q24.3 8 143864484C> T null D N 2899 2899 missense 0.814 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1484822763 8q24.3 8 143864470G> C null H Q 2903 2903 missense 0.412 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1210594236 8q24.3 8 143864472G> A null H Y 2903 2903 missense 0.3 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1204380031 8q24.3 8 143864469C> T null E K 2904 2904 missense 0.381 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1256553057 8q24.3 8 143864464G> T null N K 2905 2905 missense 0.621 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1476024268 8q24.3 8 143864463G> C null L V 2906 2906 missense 0.438 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1416641466 8q24.3 8 143864459G> A null T M 2907 2907 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1416641466 8q24.3 8 143864459G> C null T R 2907 2907 missense 0.906 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1453647637 8q24.3 8 143864454C> T null V M 2909 2909 missense 0.279 benign 0.96 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1413259374 8q24.3 8 143864441C> T null R H 2913 2913 missense 0.556 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1312501676 8q24.3 8 143864439G> A null R C 2914 2914 missense 0.818 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1225557126 8q24.3 8 143864433C> T null V M 2916 2916 missense 0.788 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1304930231 8q24.3 8 143864427C> T null D N 2918 2918 missense 0.814 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1315094340 8q24.3 8 143864423G> A null P L 2919 2919 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1486539909 8q24.3 8 143864406T> C null M V 2925 2925 missense 0.045 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1208378530 8q24.3 8 143864399T> G null Q P 2927 2927 missense 0.302 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1483151775 8q24.3 8 143864390C> T null G D 2930 2930 missense 0.936 probably damaging 0.73 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1405123905 8q24.3 8 143864387C> T null R Q 2931 2931 missense 0.006 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1178483100 8q24.3 8 143864388G> A null R W 2931 2931 missense 0.627 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1419072856 8q24.3 8 143864384C> T null G D 2932 2932 missense 0.97 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1397354574 8q24.3 8 143864379C> T null A T 2934 2934 missense 0.691 possibly damaging 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1444592727 8q24.3 8 143864356C> A null E D 2941 2941 missense 0.398 benign 0.63 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1296588865 8q24.3 8 143864352G> A null R C 2943 2943 missense 0.833 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1372690080 8q24.3 8 143864351C> T null R H 2943 2943 missense 0.711 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1307755800 8q24.3 8 143864333G> T null A D 2949 2949 missense 0.826 possibly damaging 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1279316500 8q24.3 8 143864334C> T null A T 2949 2949 missense 0.691 possibly damaging 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1206179868 8q24.3 8 143864331G> A null R C 2950 2950 missense 0.833 possibly damaging 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1230760385 8q24.3 8 143864330C> T null R H 2950 2950 missense 0.711 possibly damaging 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1480028003 8q24.3 8 143864324G> A null T M 2952 2952 missense 0.895 possibly damaging 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1255465598 8q24.3 8 143864319C> G null G R 2954 2954 missense 0.98 probably damaging 0.53 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1453091124 8q24.3 8 143864315G> A null S L 2955 2955 missense 0.325 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1391160870 8q24.3 8 143864310C> T null A T 2957 2957 missense 0.325 benign 0.53 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1411918731 8q24.3 8 143864309G> A null A V 2957 2957 missense 0.514 possibly damaging 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1168623894 8q24.3 8 143864296C> G null Q H 2961 2961 missense 0.398 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1458504810 8q24.3 8 143864292C> T null V I 2963 2963 missense 0.205 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1438588178 8q24.3 8 143864286C> A null V F 2965 2965 missense 0.617 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1438588178 8q24.3 8 143864286C> T null V I 2965 2965 missense 0.205 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1362384206 8q24.3 8 143864264C> T null R H 2972 2972 missense 0.711 possibly damaging 0.65 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1306508738 8q24.3 8 143864253C> T null E K 2976 2976 missense 0.497 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1274471167 8q24.3 8 143864246C> G null R P 2978 2978 missense 0.141 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1213821122 8q24.3 8 143864247G> A null R W 2978 2978 missense 0.627 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1467574141 8q24.3 8 143864244G> A null R C 2979 2979 missense 0.833 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1476598869 8q24.3 8 143864216G> A null A V 2988 2988 missense 0.691 possibly damaging 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1424592771 8q24.3 8 143864210G> A null T M 2990 2990 missense 0.895 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1167241750 8q24.3 8 143864205T> G null T P 2992 2992 missense 0.711 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1325144237 8q24.3 8 143864201A> T null V E 2993 2993 missense 0.617 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1459864663 8q24.3 8 143864202C> T null V M 2993 2993 missense 0.788 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1268173088 8q24.3 8 143864196C> T null E K 2995 2995 missense 0.424 benign 0.34 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1233514971 8q24.3 8 143864192A> G null L P 2996 2996 missense 0.466 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1332045769 8q24.3 8 143864190C> A null G C 2997 2997 missense 0.985 probably damaging 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1332045769 8q24.3 8 143864190C> T null G S 2997 2997 missense 0.934 probably damaging 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1449191890 8q24.3 8 143864187C> A null A S 2998 2998 missense 0.424 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1449191890 8q24.3 8 143864187C> T null A T 2998 2998 missense 0.038 benign 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1214159295 8q24.3 8 143864183G> A null T I 2999 2999 missense 0.199 benign 0.72 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1486161566 8q24.3 8 143864181G> A null L F 3000 3000 missense 0.773 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1486161566 8q24.3 8 143864181G> C null L V 3000 3000 missense 0.578 possibly damaging 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1415881976 8q24.3 8 143864174G> C null S W 3002 3002 missense 0.718 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1159170544 8q24.3 8 143864166C> T null A T 3005 3005 missense 0.14 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1402339376 8q24.3 8 143864162T> G null Q P 3006 3006 missense 0.302 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1402339376 8q24.3 8 143864162T> C null Q R 3006 3006 missense 0.151 benign 0.41 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1344367490 8q24.3 8 143864157G> C null Q E 3008 3008 missense 0.095 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1314340211 8q24.3 8 143864156T> G null Q P 3008 3008 missense 0.302 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1314340211 8q24.3 8 143864156T> C null Q R 3008 3008 missense 0.151 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1353141730 8q24.3 8 143864154C> T null A T 3009 3009 missense 0.691 possibly damaging 0.62 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1279614716 8q24.3 8 143864149C> A null Q H 3010 3010 missense 0.454 possibly damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1213413843 8q24.3 8 143864139C> T null E K 3014 3014 missense 0.091 benign 0.9 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1182671842 8q24.3 8 143864133C> T null E K 3016 3016 missense 0.325 benign 0.78 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1234664624 8q24.3 8 143864120G> A null P L 3020 3020 missense 0.275 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1156754208 8q24.3 8 143864118G> A null R C 3021 3021 missense 0.718 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1379534994 8q24.3 8 143864117C> A null R L 3021 3021 missense 0.099 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1435140668 8q24.3 8 143864110G> T null D E 3023 3023 missense 0.631 possibly damaging 0.97 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1175231153 8q24.3 8 143864109G> C null P A 3024 3024 missense 0.737 possibly damaging 0.82 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1413758890 8q24.3 8 143864105C> T null R Q 3025 3025 missense 0.398 benign 0.53 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1373293159 8q24.3 8 143864106G> A null R W 3025 3025 missense 0.755 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1329024842 8q24.3 8 143864103C> T null E K 3026 3026 missense 0.14 benign 0.78 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1439325663 8q24.3 8 143864094G> A null R C 3029 3029 missense 0.833 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1279493969 8q24.3 8 143864093C> T null R H 3029 3029 missense 0.711 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1347510516 8q24.3 8 143864082T> C null M V 3033 3033 missense 0.045 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1196586476 8q24.3 8 143864070C> T null V M 3037 3037 missense 0.788 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1436154678 8q24.3 8 143864064G> A null R C 3039 3039 missense 0.833 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1181129150 8q24.3 8 143864063C> T null R H 3039 3039 missense 0.009 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1195313401 8q24.3 8 143864057C> G null R P 3041 3041 missense 0.199 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1454644141 8q24.3 8 143864058G> A null R W 3041 3041 missense 0.718 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1393034074 8q24.3 8 143864052G> A null R C 3043 3043 missense 0.833 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1465285851 8q24.3 8 143864051C> T null R H 3043 3043 missense 0.711 possibly damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1398105850 8q24.3 8 143864049C> A null A S 3044 3044 missense 0.424 benign 0.67 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1407734546 8q24.3 8 143864048G> A null A V 3044 3044 missense 0.424 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1443744789 8q24.3 8 143864040C> A null V L 3047 3047 missense 0.205 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1443744789 8q24.3 8 143864040C> T null V M 3047 3047 missense 0.788 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1272173890 8q24.3 8 143864024G> A null A V 3052 3052 missense 0.424 benign 0.62 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1273860772 8q24.3 8 143864019C> T null G S 3054 3054 missense 0.038 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1468914829 8q24.3 8 143864013C> T null V M 3056 3056 missense 0.788 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1215470989 8q24.3 8 143864007T> C null R G 3058 3058 missense 0.001 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1432392072 8q24.3 8 143864004C> G null A P 3059 3059 missense 0.199 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1374484291 8q24.3 8 143864001C> T null A T 3060 3060 missense 0.007 benign 0.88 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1169422965 8q24.3 8 143863997C> T null R Q 3061 3061 missense 0.412 benign 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1474203414 8q24.3 8 143863998G> A null R W 3061 3061 missense 0.833 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1462502883 8q24.3 8 143863980C> G null E Q 3067 3067 missense 0.01 benign 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1390593584 8q24.3 8 143863976A> G null F S 3068 3068 missense 0.514 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1383150497 8q24.3 8 143863971A> G null S P 3070 3070 missense 0.514 possibly damaging 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1226964808 8q24.3 8 143863950C> T null A T 3077 3077 missense 0.691 possibly damaging 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1294045989 8q24.3 8 143863949G> A null A V 3077 3077 missense 0.691 possibly damaging 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1231460339 8q24.3 8 143863947G> T null L M 3078 3078 missense 0.826 possibly damaging 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1271231248 8q24.3 8 143863944T> C null T A 3079 3079 missense 0.398 benign 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1488103577 8q24.3 8 143863940C> T null R H 3080 3080 missense 0.711 possibly damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1263578628 8q24.3 8 143863937C> T null R Q 3081 3081 missense 0.412 benign 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1205541286 8q24.3 8 143863938G> A null R W 3081 3081 missense 0.833 possibly damaging 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1192494521 8q24.3 8 143863931G> A null T I 3083 3083 missense 0.711 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1475918877 8q24.3 8 143863926T> C null I V 3085 3085 missense 0.071 benign 0.36 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1368449223 8q24.3 8 143863911C> T null E K 3090 3090 missense 0.497 possibly damaging 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1291070979 8q24.3 8 143863902G> A null P S 3093 3093 missense 0.325 benign 0.78 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1399721085 8q24.3 8 143863898C> T null G E 3094 3094 missense 0.97 probably damaging 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1357567273 8q24.3 8 143863895G> A null A V 3095 3095 missense 0.691 possibly damaging 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1312054908 8q24.3 8 143863892C> T null R Q 3096 3096 missense 0.003 benign 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1413038204 8q24.3 8 143863893G> A null R W 3096 3096 missense 0.718 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1321117283 8q24.3 8 143863889G> A null P L 3097 3097 missense 0.199 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1262358524 8q24.3 8 143863881G> T null Q K 3100 3100 missense 0.095 benign 0.92 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1215570784 8q24.3 8 143863875C> T null A T 3102 3102 missense 0.691 possibly damaging 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1486437661 8q24.3 8 143863869G> A null R C 3104 3104 missense 0.833 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1185213999 8q24.3 8 143863868C> T null R H 3104 3104 missense 0.711 possibly damaging 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1420270075 8q24.3 8 143863866C> T null G S 3105 3105 missense 0.934 probably damaging 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1161931020 8q24.3 8 143863862G> A null P L 3106 3106 missense 0.14 benign 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1174604620 8q24.3 8 143863859C> T null R Q 3107 3107 missense 0.097 benign 0.5 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1413160268 8q24.3 8 143863848G> A null P S 3111 3111 missense 0.108 benign 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1302393021 8q24.3 8 143863844G> A null A V 3112 3112 missense 0.514 possibly damaging 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1393142556 8q24.3 8 143863842C> T null G R 3113 3113 missense 0.781 possibly damaging 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1309094469 8q24.3 8 143863839G> A null R * 3114 3114 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1374502583 8q24.3 8 143863838C> T null R Q 3114 3114 missense 0.412 benign 0.63 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1280746802 8q24.3 8 143863836C> G null G R 3115 3115 missense 0.781 possibly damaging 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1280746802 8q24.3 8 143863836C> A null G W 3115 3115 missense 0.941 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1207574861 8q24.3 8 143863830C> T null G S 3117 3117 missense 0.934 probably damaging 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1480676318 8q24.3 8 143863823G> A null S L 3119 3119 missense 0.14 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1439599868 8q24.3 8 143863818G> A null R C 3121 3121 missense 0.434 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1194725847 8q24.3 8 143863817C> T null R H 3121 3121 missense 0.275 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1433183846 8q24.3 8 143863812G> A null Q * 3123 3123 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1175631122 8q24.3 8 143863809G> A null R * 3124 3124 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1355289031 8q24.3 8 143863808C> T null R Q 3124 3124 missense 0.099 benign 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1303961226 8q24.3 8 143863788C> T null E K 3131 3131 missense 0.199 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1307669934 8q24.3 8 143863780C> A null Q H 3133 3133 missense 0.275 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1300205848 8q24.3 8 143863781T> A null Q L 3133 3133 missense 0.097 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1300205848 8q24.3 8 143863781T> G null Q P 3133 3133 missense 0.097 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1255600535 8q24.3 8 143863778T> C null E G 3134 3134 missense 0.199 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1206072484 8q24.3 8 143863779C> T null E K 3134 3134 missense 0.199 benign 0.65 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1457755246 8q24.3 8 143863776C> T null A T 3135 3135 missense 0.144 benign 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1190923448 8q24.3 8 143863773C> T null A T 3136 3136 missense 0.199 benign 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1420551387 8q24.3 8 143863772G> A null A V 3136 3136 missense 0.199 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1168510808 8q24.3 8 143863770C> T null A T 3137 3137 missense 0.691 possibly damaging 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1326509444 8q24.3 8 143863767C> T null A T 3138 3138 missense 0.074 benign 0.75 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1434059423 8q24.3 8 143863764C> T null A T 3139 3139 missense 0.199 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1316753079 8q24.3 8 143863761G> A null R C 3140 3140 missense 0.833 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1233321599 8q24.3 8 143863760C> T null R H 3140 3140 missense 0.711 possibly damaging 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1450367748 8q24.3 8 143863758G> A null R C 3141 3141 missense 0.833 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1243053256 8q24.3 8 143863757C> T null R H 3141 3141 missense 0.009 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1487007124 8q24.3 8 143863755G> A null Q * 3142 3142 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1403506848 8q24.3 8 143863742A> T null L Q 3146 3146 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1163880076 8q24.3 8 143863739C> T null R H 3147 3147 missense 0.711 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1345578697 8q24.3 8 143863737C> G null D H 3148 3148 missense 0.463 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1432554689 8q24.3 8 143863728T> C null M V 3151 3151 missense 0.045 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1339386409 8q24.3 8 143863716G> A null R C 3155 3155 missense 0.261 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1339386409 8q24.3 8 143863716G> C null R G 3155 3155 missense 0.039 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1414916171 8q24.3 8 143863715C> T null R H 3155 3155 missense 0.436 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1285505171 8q24.3 8 143863697C> T null R Q 3161 3161 missense 0.003 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1228241382 8q24.3 8 143863698G> A null R W 3161 3161 missense 0.718 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1319113663 8q24.3 8 143863694G> A null P L 3162 3162 missense 0.856 possibly damaging 0.29 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1190203661 8q24.3 8 143863677C> T null V I 3168 3168 missense 0.205 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1162592178 8q24.3 8 143863664G> A null S L 3172 3172 missense 0.514 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1359541975 8q24.3 8 143863659G> C null L V 3174 3174 missense 0.578 possibly damaging 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1314233981 8q24.3 8 143863653C> T null E K 3176 3176 missense 0.424 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1338207881 8q24.3 8 143863647G> A null R C 3178 3178 missense 0.833 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1446564026 8q24.3 8 143863646C> T null R H 3178 3178 missense 0.711 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1280678970 8q24.3 8 143863644G> A null R * 3179 3179 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1376110611 8q24.3 8 143863643C> T null R Q 3179 3179 missense 0.412 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1285721432 8q24.3 8 143863639G> C null D E 3180 3180 missense 0.006 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1348957871 8q24.3 8 143863638C> T null E K 3181 3181 missense 0.497 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1441944132 8q24.3 8 143863620C> T null A T 3187 3187 missense 0.691 possibly damaging 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1182551636 8q24.3 8 143863619G> A null A V 3187 3187 missense 0.691 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1454509342 8q24.3 8 143863596C> T null D N 3195 3195 missense 0.199 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1173975152 8q24.3 8 143863590C> T null V I 3197 3197 missense 0.205 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1413433245 8q24.3 8 143863584C> T null V I 3199 3199 missense 0.015 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1356836132 8q24.3 8 143863574C> T null R Q 3202 3202 missense 0.003 benign 0.52 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1328927905 8q24.3 8 143863575G> A null R W 3202 3202 missense 0.718 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1372183189 8q24.3 8 143863565T> G null E A 3205 3205 missense 0.497 possibly damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1309066910 8q24.3 8 143863566C> T null E K 3205 3205 missense 0.497 possibly damaging 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1273316712 8q24.3 8 143863559G> A null T M 3207 3207 missense 0.01 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1275199315 8q24.3 8 143863551G> A null R W 3210 3210 missense 0.833 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1459079975 8q24.3 8 143863547A> G null L P 3211 3211 missense 0.887 possibly damaging 0.41 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1237423306 8q24.3 8 143863543G> T null S R 3212 3212 missense 0.514 possibly damaging 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1468775631 8q24.3 8 143863540C> G null K N 3213 3213 missense 0.14 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1200672302 8q24.3 8 143863539C> A null V L 3214 3214 missense 0.205 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1425136228 8q24.3 8 143863529C> T null R H 3217 3217 missense 0.711 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1425136228 8q24.3 8 143863529C> A null R L 3217 3217 missense 0.3 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1395789371 8q24.3 8 143863518A> G null C R 3221 3221 missense 0.001 benign 0.67 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1321953244 8q24.3 8 143863508G> A null S F 3224 3224 missense 0.692 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1388933876 8q24.3 8 143863509A> T null S T 3224 3224 missense 0.302 benign 0.79 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1228411317 8q24.3 8 143863506C> T null A T 3225 3225 missense 0.691 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1272086390 8q24.3 8 143863505G> A null A V 3225 3225 missense 0.691 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1218050564 8q24.3 8 143863500C> T null E K 3227 3227 missense 0.705 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1468842764 8q24.3 8 143863490G> A null T M 3230 3230 missense 0.848 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1193475714 8q24.3 8 143863485C> T null G R 3232 3232 missense 0.295 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1169312412 8q24.3 8 143863473G> A null P S 3236 3236 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1419254713 8q24.3 8 143863461G> A null R W 3240 3240 missense 0.833 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1459893759 8q24.3 8 143863448T> C null Q R 3244 3244 missense 0.151 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1161888337 8q24.3 8 143863445C> T null G D 3245 3245 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1390480177 8q24.3 8 143863436G> A null T M 3248 3248 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1300317755 8q24.3 8 143863425C> T null V M 3252 3252 missense 0.853 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1338648561 8q24.3 8 143863421G> A null T M 3253 3253 missense 0.895 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1293954539 8q24.3 8 143863413C> T null D N 3256 3256 missense 0.737 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1335469643 8q24.3 8 143863409G> A null S L 3257 3257 missense 0.594 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1263547247 8q24.3 8 143863401G> A null R C 3260 3260 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1355414403 8q24.3 8 143863400C> T null R H 3260 3260 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1487083745 8q24.3 8 143863373G> A null A V 3269 3269 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1192386243 8q24.3 8 143863368C> T null V I 3271 3271 missense 0.91 probably damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1424981248 8q24.3 8 143863356C> T null A T 3275 3275 missense 0.688 possibly damaging 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1186051536 8q24.3 8 143863341C> T null G S 3280 3280 missense 0.92 probably damaging 0.79 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1368361363 8q24.3 8 143863337C> T null R H 3281 3281 missense 0.631 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1419328527 8q24.3 8 143863298C> A null G V 3294 3294 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1381452178 8q24.3 8 143863290G> A null R W 3297 3297 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1310510762 8q24.3 8 143863284C> T null G S 3299 3299 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1339778336 8q24.3 8 143863280G> A null T M 3300 3300 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1287882851 8q24.3 8 143863259G> A null A V 3307 3307 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1215461897 8q24.3 8 143863253G> A null A V 3309 3309 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1198183097 8q24.3 8 143863233C> G null D H 3316 3316 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1198183097 8q24.3 8 143863233C> T null D N 3316 3316 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1420172966 8q24.3 8 143863227C> T null V M 3318 3318 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1180976235 8q24.3 8 143863224G> A null R C 3319 3319 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1378844531 8q24.3 8 143863194C> T null V M 3329 3329 missense 1.0 probably damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1439411586 8q24.3 8 143863188C> T null A T 3331 3331 missense 0.977 probably damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1174505354 8q24.3 8 143863187G> A null A V 3331 3331 missense 0.977 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1464649793 8q24.3 8 143863182C> T null V M 3333 3333 missense 0.984 probably damaging 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1447408426 8q24.3 8 143863170C> T null E K 3337 3337 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1374389116 8q24.3 8 143863146C> T null A T 3345 3345 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1239109397 8q24.3 8 143863143C> T null E K 3346 3346 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1301571685 8q24.3 8 143863139C> T null R H 3347 3347 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1230489622 8q24.3 8 143863134C> T null V I 3349 3349 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1254899209 8q24.3 8 143863050C> T null G S 3377 3377 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1458653508 8q24.3 8 143863029G> C null Q E 3384 3384 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1457627265 8q24.3 8 143862237C> T null G S 3648 3648 missense 0.661 possibly damaging 0.82 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1194627933 8q24.3 8 143862234C> T null D N 3649 3649 missense 0.711 possibly damaging 0.41 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1373730707 8q24.3 8 143862179G> C null A G 3667 3667 missense 0.657 possibly damaging 0.4 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1175519767 8q24.3 8 143862180C> T null A T 3667 3667 missense 0.05 benign 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1333316892 8q24.3 8 143862174C> T null A T 3669 3669 missense 0.691 possibly damaging 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1445838281 8q24.3 8 143862171T> C null T A 3670 3670 missense 0.398 benign 0.77 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1219895164 8q24.3 8 143862167G> T null A D 3671 3671 missense 0.826 possibly damaging 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1318010928 8q24.3 8 143862168C> A null A S 3671 3671 missense 0.578 possibly damaging 0.79 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1318010928 8q24.3 8 143862168C> T null A T 3671 3671 missense 0.691 possibly damaging 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1317809740 8q24.3 8 143862165C> T null A T 3672 3672 missense 0.691 possibly damaging 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1222852126 8q24.3 8 143862164G> A null A V 3672 3672 missense 0.691 possibly damaging 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1487676568 8q24.3 8 143862159G> A null R C 3674 3674 missense 0.833 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1190833329 8q24.3 8 143862158C> T null R H 3674 3674 missense 0.711 possibly damaging 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1262644951 8q24.3 8 143862155C> T null R H 3675 3675 missense 0.711 possibly damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1478855981 8q24.3 8 143862152T> C null Q R 3676 3676 missense 0.151 benign 0.79 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1168596382 8q24.3 8 143862150C> A null E * 3677 3677 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1421441866 8q24.3 8 143862138G> A null R C 3681 3681 missense 0.833 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1165291503 8q24.3 8 143862114G> A null R C 3689 3689 missense 0.833 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1351421049 8q24.3 8 143862113C> T null R H 3689 3689 missense 0.711 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1433953783 8q24.3 8 143862100C> A null Q H 3693 3693 missense 0.398 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1340506347 8q24.3 8 143862045G> A null R C 3712 3712 missense 0.833 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1292564415 8q24.3 8 143862017G> A null A V 3721 3721 missense 0.691 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1489377091 8q24.3 8 143861994C> T null D N 3729 3729 missense 0.737 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1262552886 8q24.3 8 143861963T> G null E A 3739 3739 missense 0.497 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1191684020 8q24.3 8 143861964C> T null E K 3739 3739 missense 0.497 possibly damaging 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1473134557 8q24.3 8 143861933G> C null S C 3749 3749 missense 0.848 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1415827584 8q24.3 8 143861898C> T null E K 3761 3761 missense 0.705 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1403420145 8q24.3 8 143861859G> A null R W 3774 3774 missense 0.833 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1163766502 8q24.3 8 143861844C> T null G S 3779 3779 missense 0.898 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1360842019 8q24.3 8 143861819G> A null T M 3787 3787 missense 0.895 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1421122193 8q24.3 8 143861813A> C null M R 3789 3789 missense 0.095 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1339278673 8q24.3 8 143861804A> T null V D 3792 3792 missense 0.692 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1295896973 8q24.3 8 143861805C> T null V I 3792 3792 missense 0.205 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1448073658 8q24.3 8 143861799G> A null R C 3794 3794 missense 0.833 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1286488621 8q24.3 8 143861784T> A null T S 3799 3799 missense 0.497 possibly damaging 0.5 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1228152758 8q24.3 8 143861772C> T null A T 3803 3803 missense 0.723 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1310446580 8q24.3 8 143861771G> A null A V 3803 3803 missense 0.68 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1214741315 8q24.3 8 143861760C> G null V L 3807 3807 missense 0.205 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1285501433 8q24.3 8 143861757G> A null P S 3808 3808 missense 0.81 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1443110608 8q24.3 8 143861746G> C null D E 3811 3811 missense 0.631 possibly damaging 0.51 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1212274666 8q24.3 8 143861745G> A null Q * 3812 3812 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1239190686 8q24.3 8 143861739C> T null G S 3814 3814 missense 0.934 probably damaging 0.76 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1471765257 8q24.3 8 143861736G> A null R C 3815 3815 missense 0.833 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1156489661 8q24.3 8 143861694C> T null V M 3829 3829 missense 0.788 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1414592354 8q24.3 8 143861687C> T null R Q 3831 3831 missense 0.231 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1359445385 8q24.3 8 143861688G> A null R W 3831 3831 missense 0.835 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1357997072 8q24.3 8 143861678G> A null T M 3834 3834 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1447928575 8q24.3 8 143861669A> C null V G 3837 3837 missense 0.514 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1379580257 8q24.3 8 143861631C> T null D N 3850 3850 missense 0.713 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1202961749 8q24.3 8 143861292A> G null F L 3963 3963 missense 0.045 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1238670440 8q24.3 8 143860781A> G null F S 4133 4133 missense 0.514 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1362902728 8q24.3 8 143860569T> C null T A 4204 4204 missense 0.007 benign 0.81 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1173879370 8q24.3 8 143860560C> T null A T 4207 4207 missense 0.711 possibly damaging 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1422464014 8q24.3 8 143860556C> T null R H 4208 4208 missense 0.926 probably damaging 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1468773281 8q24.3 8 143860518C> T null V M 4221 4221 missense 0.956 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1332670061 8q24.3 8 143860511C> T null R H 4223 4223 missense 0.851 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1445099191 8q24.3 8 143860490G> A null P L 4230 4230 missense 0.641 possibly damaging 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1438889958 8q24.3 8 143860482C> T null V M 4233 4233 missense 0.444 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1344433925 8q24.3 8 143860476C> A null D Y 4235 4235 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1258684469 8q24.3 8 143860473C> T null V I 4236 4236 missense 0.938 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1319874308 8q24.3 8 143860463G> A null S F 4239 4239 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1196597029 8q24.3 8 143860460G> A null S L 4240 4240 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1451908742 8q24.3 8 143860449C> T null E K 4244 4244 missense 0.341 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1244582175 8q24.3 8 143860443G> A null R C 4246 4246 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1479838981 8q24.3 8 143860439C> T null R Q 4247 4247 missense 0.965 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1426464342 8q24.3 8 143860435G> C null D E 4248 4248 missense 0.041 benign 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1167780193 8q24.3 8 143860415G> A null A V 4255 4255 missense 0.744 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1321852489 8q24.3 8 143860401C> T null G S 4260 4260 missense 0.887 possibly damaging 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1400732015 8q24.3 8 143860392C> T null D N 4263 4263 missense 0.725 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1280164746 8q24.3 8 143860388A> G null L P 4264 4264 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1216737221 8q24.3 8 143860386C> T null V I 4265 4265 missense 0.731 possibly damaging 0.45 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1211365746 8q24.3 8 143860361T> G null E A 4273 4273 missense 0.947 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1356825560 8q24.3 8 143860362C> T null E K 4273 4273 missense 0.975 probably damaging 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1490076562 8q24.3 8 143860355G> A null T M 4275 4275 missense 0.292 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1490076562 8q24.3 8 143860355G> C null T R 4275 4275 missense 0.895 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1264719401 8q24.3 8 143860335C> A null V L 4282 4282 missense 0.406 benign 0.82 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1476514229 8q24.3 8 143860331G> C null S C 4283 4283 missense 0.995 probably damaging 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1193133902 8q24.3 8 143860326G> A null R C 4285 4285 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1369499250 8q24.3 8 143860325C> T null R H 4285 4285 missense 0.986 probably damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1161792846 8q24.3 8 143860323C> T null G S 4286 4286 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1420522828 8q24.3 8 143860305A> T null S T 4292 4292 missense 0.748 possibly damaging 0.71 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1358708371 8q24.3 8 143860296C> T null E K 4295 4295 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1340972493 8q24.3 8 143860271C> A null G V 4303 4303 missense 0.859 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1246774629 8q24.3 8 143860266C> T null E K 4305 4305 missense 0.926 probably damaging 0.77 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1358363374 8q24.3 8 143860256C> T null R Q 4308 4308 missense 0.682 possibly damaging 0.36 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1282213255 8q24.3 8 143860257G> A null R W 4308 4308 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1216885686 8q24.3 8 143860247G> A null A V 4311 4311 missense 0.991 probably damaging 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1287665386 8q24.3 8 143860239T> C null T A 4314 4314 missense 0.267 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1204011285 8q24.3 8 143860232G> A null T M 4316 4316 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1204011285 8q24.3 8 143860232G> C null T R 4316 4316 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1257530987 8q24.3 8 143860226T> G null Q P 4318 4318 missense 0.927 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1426071488 8q24.3 8 143860217G> A null T M 4321 4321 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1185939556 8q24.3 8 143860205G> A null S L 4325 4325 missense 0.73 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1440630142 8q24.3 8 143860197G> T null R S 4328 4328 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1378648479 8q24.3 8 143860188C> G null E Q 4331 4331 missense 0.414 benign 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1453212686 8q24.3 8 143860184C> T null G D 4332 4332 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1397704539 8q24.3 8 143860164C> T null V I 4339 4339 missense 0.977 probably damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1381804278 8q24.3 8 143860152C> T null A T 4343 4343 missense 0.725 possibly damaging 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1240539938 8q24.3 8 143860145T> C null D G 4345 4345 missense 0.169 benign 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1311059483 8q24.3 8 143860140G> T null P T 4347 4347 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1256060045 8q24.3 8 143860137C> T null G S 4348 4348 missense 0.394 benign 0.79 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1199250710 8q24.3 8 143860122T> C null M V 4353 4353 missense 0.807 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1458511036 8q24.3 8 143860101A> G null W R 4360 4360 missense 0.525 possibly damaging 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1236625787 8q24.3 8 143860092C> T null V M 4363 4363 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1176958718 8q24.3 8 143860085C> G null R P 4365 4365 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1176958718 8q24.3 8 143860085C> T null R Q 4365 4365 missense 0.973 probably damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1464570529 8q24.3 8 143860076G> A null T M 4368 4368 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1405233232 8q24.3 8 143860056C> T null A T 4375 4375 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1447295399 8q24.3 8 143860055G> A null A V 4375 4375 missense 0.988 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1370800912 8q24.3 8 143860053G> C null Q E 4376 4376 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1301456129 8q24.3 8 143860043G> A null T I 4379 4379 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1313473987 8q24.3 8 143860041C> T null G S 4380 4380 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1319176986 8q24.3 8 143860027G> T null D E 4384 4384 missense 0.55 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1263117845 8q24.3 8 143860029C> T null D N 4384 4384 missense 0.984 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1263117845 8q24.3 8 143860029C> A null D Y 4384 4384 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1200993292 8q24.3 8 143860023C> T null V M 4386 4386 missense 0.991 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1480480335 8q24.3 8 143860020G> A null R C 4387 4387 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1192021985 8q24.3 8 143860004G> A null S L 4392 4392 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1269671616 8q24.3 8 143859995T> G null E A 4395 4395 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1428592004 8q24.3 8 143859983G> A null A V 4399 4399 missense 0.941 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1352548469 8q24.3 8 143859944G> T null S * 4412 4412 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1461260269 8q24.3 8 143859939C> T null E K 4414 4414 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1293774037 8q24.3 8 143859936G> A null R C 4415 4415 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1369259794 8q24.3 8 143859935C> T null R H 4415 4415 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1341745346 8q24.3 8 143859930C> T null V I 4417 4417 missense 0.957 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1271424379 8q24.3 8 143859924C> T null G S 4419 4419 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1307303979 8q24.3 8 143859918T> C null T A 4421 4421 missense 0.926 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1222740818 8q24.3 8 143859917G> A null T I 4421 4421 missense 0.978 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1489919247 8q24.3 8 143859915C> T null D N 4422 4422 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1478805413 8q24.3 8 143859895C> A null Q H 4428 4428 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1417242044 8q24.3 8 143859888G> A null L F 4431 4431 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1165179604 8q24.3 8 143859858C> T null V I 4441 4441 missense 0.977 probably damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1302082753 8q24.3 8 143859854C> T null R Q 4442 4442 missense 0.965 probably damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1422350921 8q24.3 8 143859855G> A null R W 4442 4442 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1401243693 8q24.3 8 143859846C> G null G R 4445 4445 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1268978663 8q24.3 8 143859840G> A null R C 4447 4447 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1361828565 8q24.3 8 143859839C> T null R H 4447 4447 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1229314198 8q24.3 8 143859828C> G null A P 4451 4451 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1357667886 8q24.3 8 143859819C> T null A T 4454 4454 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1286961049 8q24.3 8 143859815G> A null T M 4455 4455 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1213706363 8q24.3 8 143859813C> A null G C 4456 4456 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1485501940 8q24.3 8 143859810C> T null G S 4457 4457 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1386878789 8q24.3 8 143859807C> T null V I 4458 4458 missense 0.491 possibly damaging 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1380502150 8q24.3 8 143859799G> T null D E 4460 4460 missense 0.989 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1315604165 8q24.3 8 143859783G> C null R G 4466 4466 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1345177817 8q24.3 8 143859782C> T null R H 4466 4466 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1305039196 8q24.3 8 143859773A> G null V A 4469 4469 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1381083154 8q24.3 8 143859768C> T null V M 4471 4471 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1245640285 8q24.3 8 143859764G> A null A V 4472 4472 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1310328521 8q24.3 8 143859761T> C null Y C 4473 4473 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1222204789 8q24.3 8 143859758C> T null R Q 4474 4474 missense 0.068 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1356087211 8q24.3 8 143859759G> A null R W 4474 4474 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1312792874 8q24.3 8 143859756G> A null R C 4475 4475 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1312792874 8q24.3 8 143859756G> C null R G 4475 4475 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1182714860 8q24.3 8 143859752C> G null G A 4476 4476 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1244855923 8q24.3 8 143859753C> A null G C 4476 4476 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1182714860 8q24.3 8 143859752C> T null G D 4476 4476 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1244855923 8q24.3 8 143859753C> T null G S 4476 4476 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1406628162 8q24.3 8 143859742G> C null D E 4479 4479 missense 0.994 probably damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1470957836 8q24.3 8 143859744C> T null D N 4479 4479 missense 0.996 probably damaging 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1178909449 8q24.3 8 143859740T> C null E G 4480 4480 missense 0.993 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1414494970 8q24.3 8 143859741C> T null E K 4480 4480 missense 0.985 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1452429619 8q24.3 8 143859733C> G null M I 4482 4482 missense 0.875 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1379477347 8q24.3 8 143859729G> A null R C 4484 4484 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1440293617 8q24.3 8 143859728C> T null R H 4484 4484 missense 0.969 probably damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1220973231 8q24.3 8 143859719G> T null A D 4487 4487 missense 0.95 probably damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1264987600 8q24.3 8 143859717G> C null H D 4488 4488 missense 0.011 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1202875207 8q24.3 8 143859708C> A null D Y 4491 4491 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1478092640 8q24.3 8 143859677G> A null T M 4501 4501 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1171923488 8q24.3 8 143859673G> T null H Q 4502 4502 missense 0.988 probably damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1171923488 8q24.3 8 143859673G> C null H Q 4502 4502 missense 0.988 probably damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1408521671 8q24.3 8 143859672C> T null E K 4503 4503 missense 0.985 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1408521671 8q24.3 8 143859672C> G null E Q 4503 4503 missense 0.984 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1328466768 8q24.3 8 143859668T> C null N S 4504 4504 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1331881874 8q24.3 8 143859662G> A null T M 4506 4506 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1344893627 8q24.3 8 143859657C> G null V L 4508 4508 missense 0.061 benign 0.92 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1344893627 8q24.3 8 143859657C> T null V M 4508 4508 missense 0.397 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1222841219 8q24.3 8 143859645G> A null R C 4512 4512 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1278711243 8q24.3 8 143859642G> A null R C 4513 4513 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1341248687 8q24.3 8 143859641C> T null R H 4513 4513 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1271909873 8q24.3 8 143859637G> T null C * 4514 4514 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1451806103 8q24.3 8 143859636C> T null V M 4515 4515 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1266153141 8q24.3 8 143859630C> T null D N 4517 4517 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1479789737 8q24.3 8 143859626G> A null P L 4518 4518 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1474651692 8q24.3 8 143859623T> G null D A 4519 4519 missense 0.928 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1474651692 8q24.3 8 143859623T> C null D G 4519 4519 missense 0.95 probably damaging 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1426794914 8q24.3 8 143859590C> T null R Q 4530 4530 missense 0.014 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1301464643 8q24.3 8 143859587C> T null G D 4531 4531 missense 0.996 probably damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1365062096 8q24.3 8 143859582C> T null A T 4533 4533 missense 0.033 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1328106346 8q24.3 8 143859561C> T null E K 4540 4540 missense 0.955 probably damaging 0.73 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1225042482 8q24.3 8 143859554C> T null R H 4542 4542 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1269371758 8q24.3 8 143859548G> A null A V 4544 4544 missense 0.972 probably damaging 0.33 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1247731784 8q24.3 8 143859543G> A null R C 4546 4546 missense 0.988 probably damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1289073595 8q24.3 8 143859542C> T null R H 4546 4546 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1216657583 8q24.3 8 143859540C> T null D N 4547 4547 missense 0.454 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1193019333 8q24.3 8 143859537C> G null A P 4548 4548 missense 0.936 probably damaging 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1193019333 8q24.3 8 143859537C> T null A T 4548 4548 missense 0.104 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1369426290 8q24.3 8 143859533C> T null R H 4549 4549 missense 0.984 probably damaging 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1420437578 8q24.3 8 143859527A> T null M K 4551 4551 missense 0.173 benign 0.78 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1420437578 8q24.3 8 143859527A> C null M R 4551 4551 missense 0.254 benign 0.36 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1420437578 8q24.3 8 143859527A> G null M T 4551 4551 missense 0.003 benign 0.94 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1387132099 8q24.3 8 143859512G> A null A V 4556 4556 missense 0.022 benign 0.28 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1317480159 8q24.3 8 143859495C> T null V I 4562 4562 missense 0.104 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1383282252 8q24.3 8 143859489C> T null V I 4564 4564 missense 0.897 possibly damaging 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1454338235 8q24.3 8 143859482T> G null E A 4566 4566 missense 0.637 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1312511782 8q24.3 8 143859474A> C null F V 4569 4569 missense 0.946 probably damaging 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1358252766 8q24.3 8 143859467C> T null R H 4571 4571 missense 0.978 probably damaging 0.61 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1347854031 8q24.3 8 143859465C> T null E K 4572 4572 missense 0.839 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1257434678 8q24.3 8 143859459A> C null S A 4574 4574 missense 0.132 benign 0.65 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1440546201 8q24.3 8 143859456C> T null E K 4575 4575 missense 0.955 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1440546201 8q24.3 8 143859456C> G null E Q 4575 4575 missense 0.97 probably damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1161468444 8q24.3 8 143859450G> C null R G 4577 4577 missense 0.254 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1362147682 8q24.3 8 143859449C> T null R Q 4577 4577 missense 0.009 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1157956871 8q24.3 8 143859419G> A null A V 4587 4587 missense 0.833 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1470859763 8q24.3 8 143859413G> A null T M 4589 4589 missense 0.935 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1334445656 8q24.3 8 143859410A> C null L R 4590 4590 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1391629669 8q24.3 8 143859405C> T null V M 4592 4592 missense 0.956 probably damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1333512867 8q24.3 8 143859398T> C null E G 4594 4594 missense 0.553 possibly damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1264359938 8q24.3 8 143859390C> T null A T 4597 4597 missense 0.033 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1202245445 8q24.3 8 143859386G> A null T I 4598 4598 missense 0.559 possibly damaging 0.49 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1326262315 8q24.3 8 143859387T> G null T P 4598 4598 missense 0.559 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1179191251 8q24.3 8 143859369C> T null A T 4604 4604 missense 0.728 possibly damaging 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1418617111 8q24.3 8 143859360G> C null Q E 4607 4607 missense 0.003 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1199638938 8q24.3 8 143859359T> C null Q R 4607 4607 missense 0.001 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1429971055 8q24.3 8 143859356G> C null A G 4608 4608 missense 0.578 possibly damaging 0.41 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1470920726 8q24.3 8 143859353T> C null Q R 4609 4609 missense 0.138 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1462271856 8q24.3 8 143859347C> T null R Q 4611 4611 missense 0.412 benign 0.65 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1393849582 8q24.3 8 143859344G> A null A V 4612 4612 missense 0.691 possibly damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1283148321 8q24.3 8 143859341T> C null E G 4613 4613 missense 0.617 possibly damaging 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1346777899 8q24.3 8 143859342C> G null E Q 4613 4613 missense 0.617 possibly damaging 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1271162635 8q24.3 8 143859335T> G null E A 4615 4615 missense 0.199 benign 0.74 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1271162635 8q24.3 8 143859335T> C null E G 4615 4615 missense 0.199 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1480420589 8q24.3 8 143859336C> T null E K 4615 4615 missense 0.199 benign 0.89 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1480420589 8q24.3 8 143859336C> G null E Q 4615 4615 missense 0.275 benign 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1197232707 8q24.3 8 143859332G> A null A V 4616 4616 missense 0.454 possibly damaging 0.34 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1428953384 8q24.3 8 143859330C> G null E Q 4617 4617 missense 0.653 possibly damaging 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1461176515 8q24.3 8 143859317G> A null P L 4621 4621 missense 0.14 benign 0.36 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1366919537 8q24.3 8 143859315G> A null R C 4622 4622 missense 0.434 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1363241838 8q24.3 8 143859307G> T null D E 4624 4624 missense 0.104 benign 0.72 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1216744541 8q24.3 8 143859306G> C null P A 4625 4625 missense 0.981 probably damaging 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1293872046 8q24.3 8 143859305G> C null P R 4625 4625 missense 0.995 probably damaging 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1294174662 8q24.3 8 143859302C> G null R P 4626 4626 missense 0.013 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1294174662 8q24.3 8 143859302C> T null R Q 4626 4626 missense 0.022 benign 0.75 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1307224763 8q24.3 8 143859303G> A null R W 4626 4626 missense 0.927 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1246116060 8q24.3 8 143859291G> A null R C 4630 4630 missense 0.951 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1246116060 8q24.3 8 143859291G> C null R G 4630 4630 missense 0.02 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1486151503 8q24.3 8 143859290C> T null R H 4630 4630 missense 0.935 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1188131704 8q24.3 8 143859288C> T null A T 4631 4631 missense 0.653 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1417144935 8q24.3 8 143859287G> A null A V 4631 4631 missense 0.653 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1386671489 8q24.3 8 143859285C> T null A T 4632 4632 missense 0.981 probably damaging 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1162358886 8q24.3 8 143859278A> G null M T 4634 4634 missense 0.781 possibly damaging 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1422264232 8q24.3 8 143859279T> C null M V 4634 4634 missense 0.465 possibly damaging 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1346374695 8q24.3 8 143859261G> C null R G 4640 4640 missense 0.45 possibly damaging 0.44 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1433522666 8q24.3 8 143859260C> T null R H 4640 4640 missense 0.013 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1361740672 8q24.3 8 143859254C> T null R Q 4642 4642 missense 0.015 benign 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1287585098 8q24.3 8 143859255G> A null R W 4642 4642 missense 0.896 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1357536793 8q24.3 8 143859252C> T null G R 4643 4643 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1245423713 8q24.3 8 143859249G> A null R C 4644 4644 missense 0.888 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1285050846 8q24.3 8 143859248C> T null R H 4644 4644 missense 0.007 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1217890981 8q24.3 8 143859245G> A null A V 4645 4645 missense 0.138 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1464303711 8q24.3 8 143859243C> T null V M 4646 4646 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1244653656 8q24.3 8 143859231C> G null D H 4650 4650 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1442385268 8q24.3 8 143859228C> T null V M 4651 4651 missense 0.945 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1408107614 8q24.3 8 143859221G> A null A V 4653 4653 missense 0.455 possibly damaging 0.51 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1339103457 8q24.3 8 143859216C> G null G R 4655 4655 missense 0.639 possibly damaging 0.41 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1339103457 8q24.3 8 143859216C> T null G S 4655 4655 missense 0.022 benign 0.7 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1280309291 8q24.3 8 143859210C> T null V M 4657 4657 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1375655380 8q24.3 8 143859204C> T null G R 4659 4659 missense 0.02 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1204131474 8q24.3 8 143859198C> A null A S 4661 4661 missense 0.199 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1459777476 8q24.3 8 143859194C> T null R Q 4662 4662 missense 0.946 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1264771052 8q24.3 8 143859195G> A null R W 4662 4662 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1481054132 8q24.3 8 143859173A> G null F S 4669 4669 missense 0.96 probably damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1404389708 8q24.3 8 143859170C> T null G D 4670 4670 missense 0.965 probably damaging 0.63 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1179139711 8q24.3 8 143859171C> T null G S 4670 4670 missense 0.45 possibly damaging 0.8 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1279025710 8q24.3 8 143859152A> G null L S 4676 4676 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1273347912 8q24.3 8 143859147C> A null A S 4678 4678 missense 0.553 possibly damaging 0.77 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1273347912 8q24.3 8 143859147C> T null A T 4678 4678 missense 0.553 possibly damaging 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1439190657 8q24.3 8 143859146G> A null A V 4678 4678 missense 0.377 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1490356819 8q24.3 8 143859138G> A null R C 4681 4681 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1427775248 8q24.3 8 143859137C> T null R H 4681 4681 missense 0.984 probably damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1427775248 8q24.3 8 143859137C> A null R L 4681 4681 missense 0.946 probably damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1168835586 8q24.3 8 143859135G> A null R W 4682 4682 missense 0.967 probably damaging 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1366309861 8q24.3 8 143859125G> A null A V 4685 4685 missense 0.074 benign 0.37 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1406815798 8q24.3 8 143859122A> G null I T 4686 4686 missense 0.711 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1343555878 8q24.3 8 143859108C> T null E K 4691 4691 missense 0.807 possibly damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1232349696 8q24.3 8 143859101G> A null A V 4693 4693 missense 0.099 benign 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1212467644 8q24.3 8 143859096C> T null G R 4695 4695 missense 0.642 possibly damaging 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1490381608 8q24.3 8 143859089C> T null R Q 4697 4697 missense 0.003 benign 0.47 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1273412905 8q24.3 8 143859090G> A null R W 4697 4697 missense 0.627 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1224042040 8q24.3 8 143859086G> A null P L 4698 4698 missense 0.199 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1194430245 8q24.3 8 143859072C> T null A T 4703 4703 missense 0.01 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1244205295 8q24.3 8 143859071G> A null A V 4703 4703 missense 0.2 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1168245390 8q24.3 8 143859067C> T null W * 4704 4704 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1386073304 8q24.3 8 143859065C> T null R H 4705 4705 missense 0.65 possibly damaging 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1161749691 8q24.3 8 143859059G> A null P L 4707 4707 missense 0.14 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1432596701 8q24.3 8 143859056C> T null R Q 4708 4708 missense 0.003 benign 0.5 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1296476656 8q24.3 8 143859052C> A null E D 4709 4709 missense 0.006 benign 0.55 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1354965721 8q24.3 8 143859045G> C null P A 4712 4712 missense 0.003 benign 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1354965721 8q24.3 8 143859045G> A null P S 4712 4712 missense 0.074 benign 0.25 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1286923195 8q24.3 8 143859039C> T null G R 4714 4714 missense 0.98 probably damaging 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1188316446 8q24.3 8 143859036G> C null R G 4715 4715 missense 0.3 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1244049593 8q24.3 8 143859035C> T null R Q 4715 4715 missense 0.412 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1446678082 8q24.3 8 143859033C> G null G R 4716 4716 missense 0.98 probably damaging 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1367992510 8q24.3 8 143859027C> T null G S 4718 4718 missense 0.438 benign 0.82 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1454340853 8q24.3 8 143859024C> T null D N 4719 4719 missense 0.195 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1159114263 8q24.3 8 143859020G> A null S L 4720 4720 missense 0.514 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1319637819 8q24.3 8 143859014C> T null R H 4722 4722 missense 0.363 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1454254634 8q24.3 8 143859009G> A null Q * 4724 4724 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1310072838 8q24.3 8 143859008T> C null Q R 4724 4724 missense 0.062 benign 0.53 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1239115676 8q24.3 8 143859006G> A null R * 4725 4725 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1239115676 8q24.3 8 143859006G> C null R G 4725 4725 missense 0.029 benign 0.39 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1281840044 8q24.3 8 143859005C> T null R Q 4725 4725 missense 0.097 benign 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1349162370 8q24.3 8 143859003C> G null E Q 4726 4726 missense 0.062 benign 0.54 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1208580229 8q24.3 8 143859000C> T null G S 4727 4727 missense 0.24 benign 0.75 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1264158937 8q24.3 8 143858995C> A null Q H 4728 4728 missense 0.19 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1462896579 8q24.3 8 143858993C> G null G A 4729 4729 missense 0.015 benign 0.9 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1184061020 8q24.3 8 143858977C> A null Q H 4734 4734 missense 0.19 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1419797155 8q24.3 8 143858978T> A null Q L 4734 4734 missense 0.062 benign 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1365531132 8q24.3 8 143858976C> T null E K 4735 4735 missense 0.068 benign 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1471571729 8q24.3 8 143858975T> A null E V 4735 4735 missense 0.068 benign 0.19 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1470809174 8q24.3 8 143858970C> T null A T 4737 4737 missense 0.007 benign 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1391536863 8q24.3 8 143858967C> G null A P 4738 4738 missense 0.346 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1391536863 8q24.3 8 143858967C> T null A T 4738 4738 missense 0.199 benign 0.41 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1284443198 8q24.3 8 143858964C> T null A T 4739 4739 missense 0.074 benign 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1231494930 8q24.3 8 143858961C> T null A T 4740 4740 missense 0.14 benign 0.62 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1429869017 8q24.3 8 143858958G> A null R C 4741 4741 missense 0.791 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1481330137 8q24.3 8 143858957C> T null R H 4741 4741 missense 0.459 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1173693108 8q24.3 8 143858955G> A null R C 4742 4742 missense 0.791 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1462193988 8q24.3 8 143858954C> T null R H 4742 4742 missense 0.459 possibly damaging 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1299477785 8q24.3 8 143858952G> A null Q * 4743 4743 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1408657162 8q24.3 8 143858947C> A null E D 4744 4744 missense 0.807 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1304333425 8q24.3 8 143858942G> T null T N 4746 4746 missense 0.199 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1385518240 8q24.3 8 143858937G> C null R G 4748 4748 missense 0.773 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1301023391 8q24.3 8 143858936C> T null R H 4748 4748 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1308389961 8q24.3 8 143858933T> A null D V 4749 4749 missense 0.068 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1229912199 8q24.3 8 143858931C> T null A T 4750 4750 missense 0.015 benign 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1272700080 8q24.3 8 143858922C> T null E K 4753 4753 missense 0.153 benign 0.81 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1341591937 8q24.3 8 143858916G> A null Q * 4755 4755 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1223308478 8q24.3 8 143858914C> G null Q H 4755 4755 missense 0.0 benign 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1269607529 8q24.3 8 143858913G> A null R C 4756 4756 missense 0.261 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1490822663 8q24.3 8 143858912C> T null R H 4756 4756 missense 0.261 benign 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1428854746 8q24.3 8 143858905C> A null Q H 4758 4758 missense 0.895 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1387914101 8q24.3 8 143858895G> A null R W 4762 4762 missense 0.627 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1366820591 8q24.3 8 143858883C> T null V M 4766 4766 missense 0.463 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1293402304 8q24.3 8 143858871G> A null L F 4770 4770 missense 0.936 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1363124590 8q24.3 8 143858865A> G null S P 4772 4772 missense 0.826 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1384240767 8q24.3 8 143858861G> A null S L 4773 4773 missense 0.773 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1364731162 8q24.3 8 143858858T> C null Y C 4774 4774 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1294063389 8q24.3 8 143858843T> C null H R 4779 4779 missense 0.001 benign 0.42 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1319957114 8q24.3 8 143858841G> A null R * 4780 4780 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1190257568 8q24.3 8 143858825G> C null A G 4785 4785 missense 0.871 possibly damaging 0.36 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1190257568 8q24.3 8 143858825G> A null A V 4785 4785 missense 0.871 possibly damaging 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1245884139 8q24.3 8 143858820G> A null H Y 4787 4787 missense 0.617 possibly damaging 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1448502916 8q24.3 8 143858817C> T null A T 4788 4788 missense 0.27 benign 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1183759498 8q24.3 8 143858816G> A null A V 4788 4788 missense 0.1 benign 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1403052486 8q24.3 8 143858811C> T null G S 4790 4790 missense 0.971 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1346281538 8q24.3 8 143858802C> T null G S 4793 4793 missense 0.24 benign 0.35 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1318970269 8q24.3 8 143858793C> T null D N 4796 4796 missense 0.14 benign 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1388294556 8q24.3 8 143858787C> T null V I 4798 4798 missense 0.631 possibly damaging 0.59 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1227789654 8q24.3 8 143858771C> T null R Q 4803 4803 missense 0.003 benign 0.66 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1377121307 8q24.3 8 143858772G> A null R W 4803 4803 missense 0.627 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1210439873 8q24.3 8 143858762T> G null E A 4806 4806 missense 0.807 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1317439904 8q24.3 8 143858763C> T null E K 4806 4806 missense 0.807 possibly damaging 0.26 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1266023060 8q24.3 8 143858756G> A null T M 4808 4808 missense 0.01 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1203933966 8q24.3 8 143858750T> C null E G 4810 4810 missense 0.438 benign 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1238810263 8q24.3 8 143858747C> T null R Q 4811 4811 missense 0.773 possibly damaging 0.87 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1471550142 8q24.3 8 143858727G> A null R C 4818 4818 missense 0.714 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1473867506 8q24.3 8 143858726C> T null R H 4818 4818 missense 0.65 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1473867506 8q24.3 8 143858726C> A null R L 4818 4818 missense 0.138 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1388411687 8q24.3 8 143858723C> A null G V 4819 4819 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1470489987 8q24.3 8 143858714C> T null R H 4822 4822 missense 0.013 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1298822586 8q24.3 8 143858687G> C null T R 4831 4831 missense 0.345 benign 0.68 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1286338079 8q24.3 8 143858682C> T null G R 4833 4833 missense 0.295 benign 0.38 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1223873903 8q24.3 8 143858670G> A null P S 4837 4837 missense 0.089 benign 0.3 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1440344635 8q24.3 8 143858657C> T null R Q 4841 4841 missense 0.773 possibly damaging 0.57 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1280369312 8q24.3 8 143858658G> A null R W 4841 4841 missense 0.941 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1232976033 8q24.3 8 143858634T> A null T S 4849 4849 missense 0.807 possibly damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1483727364 8q24.3 8 143858612A> C null M R 4856 4856 missense 0.412 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1180705156 8q24.3 8 143858607A> G null S P 4858 4858 missense 0.199 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782243008 8q24.3 8 143858603A> G null V A 4859 4859 missense 0.737 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed rs371383984 8q24.3 8 143858604C> T null V I 4859 4859 missense 0.631 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed rs371383984 8q24.3 8 143858604C> G null V L 4859 4859 missense 0.631 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782681493 8q24.3 8 143858601T> C null K E 4860 4860 missense 0.642 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782538875 8q24.3 8 143858600T> G null K T 4860 4860 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781810573 8q24.3 8 143858598G> A null R C 4861 4861 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs367587249 8q24.3 8 143858597C> T null R H 4861 4861 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781810573 8q24.3 8 143858598G> T null R S 4861 4861 missense 0.773 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782480745 8q24.3 8 143858594T> A null Y F 4862 4862 missense 0.807 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782778289 8q24.3 8 143858591A> G null L P 4863 4863 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658298 8q24.3 8 143858588T> C null E G 4864 4864 missense 0.003 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658299 8q24.3 8 143858589C> G null E Q 4864 4864 missense 0.27 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs374255463 8q24.3 8 143858585C> T null G D 4865 4865 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs374255463 8q24.3 8 143858585C> A null G V 4865 4865 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782709521 8q24.3 8 143858582G> T null T N 4866 4866 missense 0.195 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658292 8q24.3 8 143858583T> A null T S 4866 4866 missense 0.007 benign 0.46 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781960153 8q24.3 8 143858573A> G null I T 4869 4869 missense 0.817 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs567365258 8q24.3 8 143858571C> A null A S 4870 4870 2.0E-4 missense 0.914 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs567365258 8q24.3 8 143858571C> T null A T 4870 4870 2.0E-4 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs549060166 8q24.3 8 143858570G> A null A V 4870 4870 5.99E-4 missense 0.865 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782588892 8q24.3 8 143858567C> T null G D 4871 4871 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC rs372376882 8q24.3 8 143858565C> A null V F 4872 4872 missense 0.908 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC rs372376882 8q24.3 8 143858565C> T null V I 4872 4872 missense 0.631 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC rs372376882 8q24.3 8 143858565C> G null V L 4872 4872 missense 0.631 possibly damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563875063 8q24.3 8 143858761_143858762insGCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCACTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCTGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTC C null V S 4872 4872 stop gained 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs868979958 8q24.3 8 143858561A> G null L P 4873 4873 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs868979958 8q24.3 8 143858561A> T null L Q 4873 4873 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs868979958 8q24.3 8 143858561A> C null L R 4873 4873 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1414131901 8q24.3 8 143858562G> C null L V 4873 4873 missense 0.807 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781786730 8q24.3 8 143858559C> G null V L 4874 4874 missense 0.043 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658280 8q24.3 8 143858555G> C null P R 4875 4875 missense 0.973 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782073815 8q24.3 8 143858556G> A null P S 4875 4875 missense 0.935 probably damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs535733157 8q24.3 8 143858552G> T null A D 4876 4876 missense 0.199 benign 0.14 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs201442886 8q24.3 8 143858553C> A null A S 4876 4876 missense 0.14 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs201442886 8q24.3 8 143858553C> T null A T 4876 4876 missense 0.14 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782012556 8q24.3 8 143858545G> T null D E 4878 4878 missense 0.195 benign 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782012556 8q24.3 8 143858545G> C null D E 4878 4878 missense 0.195 benign 0.6 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1349782128 8q24.3 8 143858544G> A null Q * 4879 4879 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781967313 8q24.3 8 143858537C> G null G A 4881 4881 missense 0.188 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781967313 8q24.3 8 143858537C> T null G D 4881 4881 missense 0.399 benign 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782056786 8q24.3 8 143858538C> G null G R 4881 4881 missense 0.694 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782056786 8q24.3 8 143858538C> T null G S 4881 4881 missense 0.038 benign 0.63 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs527298231 8q24.3 8 143858535G> A null R C 4882 4882 2.0E-4 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs112377501 8q24.3 8 143858534C> T null R H 4882 4882 missense 0.922 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782420635 8q24.3 8 143858532G> A null Q * 4883 4883 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782279978 8q24.3 8 143858531T> G null Q P 4883 4883 missense 0.711 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782484358 8q24.3 8 143858529C> A null E * 4884 4884 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782484358 8q24.3 8 143858529C> T null E K 4884 4884 missense 0.807 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658272 8q24.3 8 143858528T> A null E V 4884 4884 missense 0.899 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658269 8q24.3 8 143858526T> C null K E 4885 4885 missense 0.798 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658269 8q24.3 8 143858526T> G null K Q 4885 4885 missense 0.742 possibly damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782644578 8q24.3 8 143858521C> G null M I 4886 4886 missense 0.223 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782644578 8q24.3 8 143858521C> A null M I 4886 4886 missense 0.223 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658262 8q24.3 8 143858523T> C null M V 4886 4886 missense 0.146 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658252 8q24.3 8 143858520T> A null S C 4887 4887 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658251 8q24.3 8 143858517T> G null I L 4888 4888 missense 0.381 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658250 8q24.3 8 143858513T> C null Y C 4889 4889 missense 0.983 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658250 8q24.3 8 143858513T> A null Y F 4889 4889 missense 0.788 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs199813202 8q24.3 8 143858511G> A null Q * 4890 4890 stop gained 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs370985993 8q24.3 8 143858509C> G null Q H 4890 4890 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782751226 8q24.3 8 143858507G> A null A V 4891 4891 missense 0.77 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658244 8q24.3 8 143858504A> G null M T 4892 4892 missense 0.582 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563874905 8q24.3 8 143858500C> G null W C 4893 4893 missense 0.952 probably damaging 0.2 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1563874913 8q24.3 8 143858502A> G null W R 4893 4893 missense 0.937 probably damaging 0.82 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782085433 8q24.3 8 143858495C> G null G A 4895 4895 missense 0.879 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782165254 8q24.3 8 143858493C> G null V L 4896 4896 missense 0.014 benign 0.7 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782165254 8q24.3 8 143858493C> A null V L 4896 4896 missense 0.014 benign 0.7 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782165254 8q24.3 8 143858493C> T null V M 4896 4896 missense 0.73 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201270359 8q24.3 8 143858486C> T null R Q 4898 4898 missense 0.594 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375142892 8q24.3 8 143858487G> A null R W 4898 4898 2.0E-4 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658237 8q24.3 8 143858483G> C null P R 4899 4899 missense 0.973 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1202396393 8q24.3 8 143858484G> A null P S 4899 4899 missense 0.853 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782246233 8q24.3 8 143858481C> A null G C 4900 4900 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658236 8q24.3 8 143858480C> T null G D 4900 4900 missense 0.972 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782246233 8q24.3 8 143858481C> T null G S 4900 4900 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs200167763 8q24.3 8 143858477G> A null T M 4901 4901 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs202019740 8q24.3 8 143858475C> A null A S 4902 4902 missense 0.846 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs202019740 8q24.3 8 143858475C> T null A T 4902 4902 missense 0.862 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782500731 8q24.3 8 143858469C> G null V L 4904 4904 missense 0.631 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782500731 8q24.3 8 143858469C> A null V L 4904 4904 missense 0.631 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781827312 8q24.3 8 143858462A> G null L P 4906 4906 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782510232 8q24.3 8 143858456G> T null A E 4908 4908 missense 0.811 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658234 8q24.3 8 143858457C> T null A T 4908 4908 missense 0.576 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782510232 8q24.3 8 143858456G> A null A V 4908 4908 missense 0.525 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781965086 8q24.3 8 143858450G> C null A G 4910 4910 missense 0.438 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782811791 8q24.3 8 143858451C> A null A S 4910 4910 missense 0.681 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782811791 8q24.3 8 143858451C> T null A T 4910 4910 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781965086 8q24.3 8 143858450G> A null A V 4910 4910 missense 0.68 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658227 8q24.3 8 143858448C> A null A S 4911 4911 missense 0.527 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782126425 8q24.3 8 143858447G> A null A V 4911 4911 missense 0.525 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1392232086 8q24.3 8 143858444G> A null T I 4912 4912 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs200821582 8q24.3 8 143858442C> T null G S 4913 4913 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,gnomAD rs377487212 8q24.3 8 143858436C> T null V I 4915 4915 5.99E-4 missense 0.022 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782227916 8q24.3 8 143858431G> C null I M 4916 4916 missense 0.516 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782613465 8q24.3 8 143858430C> T null D N 4917 4917 missense 0.901 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782613465 8q24.3 8 143858430C> A null D Y 4917 4917 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658220 8q24.3 8 143858426G> T null P H 4918 4918 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658220 8q24.3 8 143858426G> A null P L 4918 4918 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782249404 8q24.3 8 143858427G> A null P S 4918 4918 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658217 8q24.3 8 143858423A> G null V A 4919 4919 missense 0.716 possibly damaging 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373172474 8q24.3 8 143858424C> G null V L 4919 4919 5.99E-4 missense 0.19 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373172474 8q24.3 8 143858424C> T null V M 4919 4919 5.99E-4 missense 0.856 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782731619 8q24.3 8 143858421G> A null R C 4920 4920 missense 0.436 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781865366 8q24.3 8 143858420C> T null R H 4920 4920 missense 0.001 benign 0.23 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781865366 8q24.3 8 143858420C> G null R P 4920 4920 missense 0.062 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658213 8q24.3 8 143858414A> C null L R 4922 4922 missense 0.0 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782017539 8q24.3 8 143858405G> A null S L 4925 4925 missense 0.773 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782017539 8q24.3 8 143858405G> C null S W 4925 4925 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658206 8q24.3 8 143858402A> G null V A 4926 4926 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781972424 8q24.3 8 143858397C> T null E K 4928 4928 missense 0.723 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658203 8q24.3 8 143858394C> A null A S 4929 4929 missense 0.846 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782425477 8q24.3 8 143858391C> G null V L 4930 4930 missense 0.631 possibly damaging 0.68 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782425477 8q24.3 8 143858391C> T null V M 4930 4930 missense 0.937 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658199 8q24.3 8 143858387G> C null A G 4931 4931 missense 0.871 possibly damaging 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782594852 8q24.3 8 143858385C> T null A T 4932 4932 missense 0.199 benign 0.16 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs374977437 8q24.3 8 143858384G> A null A V 4932 4932 missense 0.199 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782651343 8q24.3 8 143858381C> T null G D 4933 4933 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201579633 8q24.3 8 143858379C> T null V M 4934 4934 7.99E-4 missense 0.772 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658192 8q24.3 8 143858376C> G null V L 4935 4935 missense 0.476 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782654479 8q24.3 8 143858372C> T null G D 4936 4936 missense 0.999 probably damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658188 8q24.3 8 143858373C> T null G S 4936 4936 missense 0.988 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782453299 8q24.3 8 143858370C> T null G S 4937 4937 missense 0.971 probably damaging 0.56 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781869568 8q24.3 8 143858365C> G null E D 4938 4938 missense 0.381 benign 0.22 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ESP,ExAC,gnomAD rs375094735 8q24.3 8 143858367C> T null E K 4938 4938 5.99E-4 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658181 8q24.3 8 143858361G> A null Q * 4940 4940 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782162646 8q24.3 8 143858360T> C null Q R 4940 4940 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658180 8q24.3 8 143858358C> A null E * 4941 4941 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658180 8q24.3 8 143858358C> T null E K 4941 4941 missense 0.723 possibly damaging 0.17 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658180 8q24.3 8 143858358C> G null E Q 4941 4941 missense 0.72 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782331293 8q24.3 8 143858355T> G null K Q 4942 4942 missense 0.567 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781943478 8q24.3 8 143858348A> G null L P 4944 4944 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782383907 8q24.3 8 143858345G> A null S L 4945 4945 missense 0.775 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658166 8q24.3 8 143858342G> T null A D 4946 4946 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782188788 8q24.3 8 143858340C> T null E K 4947 4947 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782578323 8q24.3 8 143858337G> A null R C 4948 4948 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs371768057 8q24.3 8 143858336C> T null R H 4948 4948 missense 0.826 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782651504 8q24.3 8 143858334C> T null A T 4949 4949 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781907472 8q24.3 8 143858331C> T null V I 4950 4950 missense 0.476 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658154 8q24.3 8 143858328T> C null T A 4951 4951 missense 0.381 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1283003080 8q24.3 8 143858327G> A null T I 4951 4951 missense 0.902 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1283003080 8q24.3 8 143858327G> C null T S 4951 4951 missense 0.381 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782753383 8q24.3 8 143858325C> T null G S 4952 4952 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782127126 8q24.3 8 143858319T> C null T A 4954 4954 missense 0.338 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781975985 8q24.3 8 143858318G> C null T S 4954 4954 missense 0.338 benign 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781938330 8q24.3 8 143858314G> T null D E 4955 4955 missense 0.782 possibly damaging 0.13 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782138312 8q24.3 8 143858316C> T null D N 4955 4955 missense 0.942 probably damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs557842369 8q24.3 8 143858307T> C null T A 4958 4958 2.0E-4 missense 0.007 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658143 8q24.3 8 143858303C> T null G E 4959 4959 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782394342 8q24.3 8 143858304C> T null G R 4959 4959 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1185505638 8q24.3 8 143858300T> C null Q R 4960 4960 missense 0.043 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782686416 8q24.3 8 143858296C> G null Q H 4961 4961 missense 0.895 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782686416 8q24.3 8 143858296C> A null Q H 4961 4961 missense 0.895 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782548533 8q24.3 8 143858293G> C null I M 4962 4962 missense 0.899 possibly damaging 0.27 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1472435457 8q24.3 8 143858295T> C null I V 4962 4962 missense 0.183 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658137 8q24.3 8 143858291G> C null S C 4963 4963 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658137 8q24.3 8 143858291G> A null S F 4963 4963 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658129 8q24.3 8 143858285A> G null F S 4965 4965 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781829980 8q24.3 8 143858281C> G null Q H 4966 4966 missense 0.775 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782486863 8q24.3 8 143858282T> C null Q R 4966 4966 missense 0.502 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1455413205 8q24.3 8 143858280C> G null A P 4967 4967 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658124 8q24.3 8 143858276A> G null M T 4968 4968 missense 0.71 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658122 8q24.3 8 143858273T> C null Q R 4969 4969 missense 0.617 possibly damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658118 8q24.3 8 143858271T> G null K Q 4970 4970 missense 0.051 benign 0.32 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1397336801 8q24.3 8 143858267T> C null D G 4971 4971 missense 0.911 probably damaging 0.58 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658115 8q24.3 8 143858268C> T null D N 4971 4971 missense 0.911 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658113 8q24.3 8 143858265G> A null L F 4972 4972 missense 0.856 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658113 8q24.3 8 143858265G> C null L V 4972 4972 missense 0.381 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1339311426 8q24.3 8 143858258A> T null V D 4974 4974 missense 0.908 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs540159355 8q24.3 8 143858259C> T null V I 4974 4974 5.99E-4 missense 0.631 possibly damaging 0.05 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782714032 8q24.3 8 143858255C> A null R L 4975 4975 missense 0.195 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782714032 8q24.3 8 143858255C> T null R Q 4975 4975 missense 0.195 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781886500 8q24.3 8 143858256G> A null R W 4975 4975 missense 0.791 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1198889886 8q24.3 8 143858249T> G null H P 4977 4977 missense 0.836 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs569440137 8q24.3 8 143858248G> C null H Q 4977 4977 9.98E-4 missense 0.581 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1198889886 8q24.3 8 143858249T> C null H R 4977 4977 missense 0.498 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781966551 8q24.3 8 143858250G> A null H Y 4977 4977 missense 0.502 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658095 8q24.3 8 143858246C> T null G D 4978 4978 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781989415 8q24.3 8 143858247C> G null G R 4978 4978 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781989415 8q24.3 8 143858247C> T null G S 4978 4978 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,gnomAD rs557634082 8q24.3 8 143858241G> A null R C 4980 4980 7.99E-4 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782283437 8q24.3 8 143858240C> T null R H 4980 4980 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1471518700 8q24.3 8 143858230C> A null E D 4983 4983 missense 0.705 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782310534 8q24.3 8 143858229C> G null A P 4984 4984 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs80005353 8q24.3 8 143858226G> C null Q E 4985 4985 missense 0.508 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372472786 8q24.3 8 143858223T> A null I F 4986 4986 missense 0.498 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372472786 8q24.3 8 143858223T> C null I V 4986 4986 missense 0.055 benign 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782663621 8q24.3 8 143858220C> T null A T 4987 4987 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658083 8q24.3 8 143858219G> A null A V 4987 4987 missense 0.865 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781788194 8q24.3 8 143858216G> A null T M 4988 4988 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782463389 8q24.3 8 143858211C> T null G S 4990 4990 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782755980 8q24.3 8 143858208C> T null V I 4991 4991 missense 0.038 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782716206 8q24.3 8 143858203G> C null I M 4992 4992 missense 0.899 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658071 8q24.3 8 143858200G> T null D E 4993 4993 missense 0.782 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782058022 8q24.3 8 143858202C> T null D N 4993 4993 missense 0.942 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658066 8q24.3 8 143858198G> C null P R 4994 4994 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658069 8q24.3 8 143858199G> A null P S 4994 4994 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782025472 8q24.3 8 143858196C> A null V L 4995 4995 missense 0.631 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782025472 8q24.3 8 143858196C> T null V M 4995 4995 missense 0.937 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,gnomAD rs368206359 8q24.3 8 143858193G> A null H Y 4996 4996 missense 0.617 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658056 8q24.3 8 143858190T> C null S G 4997 4997 missense 0.788 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658054 8q24.3 8 143858186T> G null H P 4998 4998 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782565047 8q24.3 8 143858184G> A null R C 4999 4999 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782565047 8q24.3 8 143858184G> C null R G 4999 4999 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs6982874 8q24.3 8 143858183C> T null R H 4999 4999 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs6982874 8q24.3 8 143858183C> G null R P 4999 4999 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782641859 8q24.3 8 143858181C> T null V M 5000 5000 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658045 8q24.3 8 143858178G> C null P A 5001 5001 missense 0.769 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658042 8q24.3 8 143858174A> T null V E 5002 5002 missense 0.798 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781903954 8q24.3 8 143858175C> T null V M 5002 5002 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782459702 8q24.3 8 143858169C> T null V M 5004 5004 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658038 8q24.3 8 143858165G> A null A V 5005 5005 missense 0.77 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781799170 8q24.3 8 143858162T> C null Y C 5006 5006 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs568636299 8q24.3 8 143858160G> C null R G 5007 5007 3.99E-4 missense 0.097 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200585601 8q24.3 8 143858159C> G null R P 5007 5007 missense 0.141 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs200585601 8q24.3 8 143858159C> T null R Q 5007 5007 missense 0.003 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs568636299 8q24.3 8 143858160G> A null R W 5007 5007 3.99E-4 missense 0.627 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782139021 8q24.3 8 143858157G> A null R C 5008 5008 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781930002 8q24.3 8 143858156C> T null R H 5008 5008 missense 0.826 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1366191612 8q24.3 8 143858153C> T null G D 5009 5009 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781946942 8q24.3 8 143858154C> T null G S 5009 5009 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1366191612 8q24.3 8 143858153C> A null G V 5009 5009 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782245146 8q24.3 8 143858146G> C null F L 5011 5011 missense 0.778 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782403024 8q24.3 8 143858143G> C null D E 5012 5012 missense 0.871 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782690497 8q24.3 8 143858145C> T null D N 5012 5012 missense 0.911 probably damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658015 8q24.3 8 143858140C> G null E D 5013 5013 missense 0.052 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782196470 8q24.3 8 143858142C> T null E K 5013 5013 missense 0.101 benign 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782196470 8q24.3 8 143858142C> G null E Q 5013 5013 missense 0.009 benign 0.68 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1207838674 8q24.3 8 143858138T> C null E G 5014 5014 missense 0.183 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658007 8q24.3 8 143858134C> G null M I 5015 5015 missense 0.223 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554658009 8q24.3 8 143858135A> T null M K 5015 5015 missense 0.412 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs782563791 8q24.3 8 143858136T> A null M L 5015 5015 missense 0.146 benign 0.08 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs782563791 8q24.3 8 143858136T> C null M V 5015 5015 missense 0.146 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781828851 8q24.3 8 143858131G> C null N K 5016 5016 missense 0.864 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782494150 8q24.3 8 143858132T> C null N S 5016 5016 missense 0.807 possibly damaging 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782494150 8q24.3 8 143858132T> G null N T 5016 5016 missense 0.864 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782655967 8q24.3 8 143858130G> A null R C 5017 5017 missense 0.533 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782512704 8q24.3 8 143858129C> T null R H 5017 5017 missense 0.36 benign 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782512704 8q24.3 8 143858129C> A null R L 5017 5017 missense 0.138 benign 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782041677 8q24.3 8 143858126A> T null V D 5018 5018 missense 0.564 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782722005 8q24.3 8 143858127C> T null V I 5018 5018 missense 0.022 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin Ensembl rs1554657997 8q24.3 8 143858124G> C null L V 5019 5019 missense 0.575 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1437574083 8q24.3 8 143858120G> T null A D 5020 5020 missense 0.671 possibly damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657995 8q24.3 8 143858121C> G null A P 5020 5020 missense 0.771 possibly damaging 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657995 8q24.3 8 143858121C> T null A T 5020 5020 missense 0.319 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201976887 8q24.3 8 143858118C> G null D H 5021 5021 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201976887 8q24.3 8 143858118C> T null D N 5021 5021 missense 0.893 possibly damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs201976887 8q24.3 8 143858118C> A null D Y 5021 5021 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657989 8q24.3 8 143858115G> C null P A 5022 5022 missense 0.854 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782132942 8q24.3 8 143858114G> A null P L 5022 5022 missense 0.989 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657987 8q24.3 8 143858111C> G null S T 5023 5023 missense 0.047 benign 0.31 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,ExAC,TOPMed,gnomAD rs372701291 8q24.3 8 143858107G> C null D E 5024 5024 missense 0.48 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782811560 8q24.3 8 143858109C> T null D N 5024 5024 missense 0.806 possibly damaging 0.11 tolerated 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs527374566 8q24.3 8 143858106C> T null D N 5025 5025 2.0E-4 missense 0.806 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs527374566 8q24.3 8 143858106C> A null D Y 5025 5025 2.0E-4 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782229963 8q24.3 8 143858102G> C null T S 5026 5026 missense 0.705 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781960789 8q24.3 8 143858100T> C null K E 5027 5027 missense 0.642 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781960789 8q24.3 8 143858100T> G null K Q 5027 5027 missense 0.567 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657980 8q24.3 8 143858096C> T null G D 5028 5028 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1422595324 8q24.3 8 143858097C> G null G R 5028 5028 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657976 8q24.3 8 143858093A> C null F C 5029 5029 missense 0.982 probably damaging 0.1 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782256113 8q24.3 8 143858094A> G null F L 5029 5029 missense 0.778 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782657942 8q24.3 8 143858091A> G null F L 5030 5030 missense 0.665 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782171305 8q24.3 8 143858086G> T null D E 5031 5031 missense 0.782 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs566497266 8q24.3 8 143858088C> T null D N 5031 5031 2.0E-4 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1448947029 8q24.3 8 143858084G> A null P L 5032 5032 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782606118 8q24.3 8 143858085G> A null P S 5032 5032 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781867410 8q24.3 8 143858081T> C null N S 5033 5033 missense 0.381 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782552488 8q24.3 8 143858078G> A null T M 5034 5034 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1226570086 8q24.3 8 143858075T> A null H L 5035 5035 missense 0.711 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782050121 8q24.3 8 143858074G> C null H Q 5035 5035 missense 0.774 possibly damaging 0.07 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781892747 8q24.3 8 143858076G> A null H Y 5035 5035 missense 0.617 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs551083708 8q24.3 8 143858072T> C null E G 5036 5036 2.0E-4 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781974444 8q24.3 8 143858073C> T null E K 5036 5036 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657968 8q24.3 8 143858068G> T null N K 5037 5037 missense 0.866 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781990798 8q24.3 8 143858067G> A null L F 5038 5038 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781990798 8q24.3 8 143858067G> C null L V 5038 5038 missense 0.705 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782430615 8q24.3 8 143858064T> C null T A 5039 5039 missense 0.705 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin 1000Genomes,ExAC,TOPMed,gnomAD rs533308526 8q24.3 8 143858063G> C null T R 5039 5039 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782430615 8q24.3 8 143858064T> A null T S 5039 5039 missense 0.705 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs7005697 8q24.3 8 143858058G> T null L M 5041 5041 missense 0.078 benign 0.7 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs7005697 8q24.3 8 143858058G> C null L V 5041 5041 missense 0.087 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782289703 8q24.3 8 143858055G> A null Q * 5042 5042 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782289703 8q24.3 8 143858055G> C null Q E 5042 5042 missense 0.211 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs781792422 8q24.3 8 143858053C> A null Q H 5042 5042 missense 0.775 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782667795 8q24.3 8 143858054T> G null Q P 5042 5042 missense 0.689 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782485700 8q24.3 8 143858051A> T null L H 5043 5043 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782485700 8q24.3 8 143858051A> G null L P 5043 5043 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782693038 8q24.3 8 143858048A> G null L P 5044 5044 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782693038 8q24.3 8 143858048A> C null L R 5044 5044 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781950223 8q24.3 8 143858046G> A null Q * 5045 5045 stop gained 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781950223 8q24.3 8 143858046G> C null Q E 5045 5045 missense 0.001 benign 1.0 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782417603 8q24.3 8 143858044C> A null Q H 5045 5045 missense 0.19 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782417603 8q24.3 8 143858044C> G null Q H 5045 5045 missense 0.19 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs201070164 8q24.3 8 143858045T> A null Q L 5045 5045 missense 0.062 benign 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs201070164 8q24.3 8 143858045T> C null Q R 5045 5045 missense 0.062 benign 0.53 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782362993 8q24.3 8 143858042C> T null R K 5046 5046 missense 0.356 benign 0.05 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782630900 8q24.3 8 143858041C> A null R S 5046 5046 missense 0.754 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,gnomAD rs782570857 8q24.3 8 143858043T> A null R W 5046 5046 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657935 8q24.3 8 143858039G> C null A G 5047 5047 missense 0.14 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782507393 8q24.3 8 143858040C> A null A S 5047 5047 missense 0.099 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782507393 8q24.3 8 143858040C> T null A T 5047 5047 missense 0.01 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs781881077 8q24.3 8 143858037T> C null T A 5048 5048 missense 0.029 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657926 8q24.3 8 143858036G> A null T I 5048 5048 missense 0.003 benign 0.21 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs781881077 8q24.3 8 143858037T> G null T P 5048 5048 missense 0.187 benign 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782666357 8q24.3 8 143858034G> C null L V 5049 5049 missense 0.003 benign 0.24 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657909 8q24.3 8 143858029G> T null D E 5050 5050 missense 0.782 possibly damaging 0.09 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs781829025 8q24.3 8 143858031C> G null D H 5050 5050 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs782750472 8q24.3 8 143858030T> A null D V 5050 5050 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed rs781829025 8q24.3 8 143858031C> A null D Y 5050 5050 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs781874079 8q24.3 8 143858027G> A null P L 5051 5051 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs782122216 8q24.3 8 143858028G> A null P S 5051 5051 missense 0.935 probably damaging 0.18 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC rs782160791 8q24.3 8 143858024T> G null E A 5052 5052 missense 0.183 benign 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC rs139541872 8q24.3 8 143858023C> G null E D 5052 5052 missense 0.0 benign 0.73 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782809355 8q24.3 8 143858025C> T null E K 5052 5052 missense 0.134 benign 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782320304 8q24.3 8 143858021G> A null T M 5053 5053 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782320304 8q24.3 8 143858021G> C null T R 5053 5053 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657897 8q24.3 8 143858018C> A null G V 5054 5054 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1411508473 8q24.3 8 143858016G> A null L F 5055 5055 missense 0.929 probably damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1411508473 8q24.3 8 143858016G> C null L V 5055 5055 missense 0.575 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs373810725 8q24.3 8 143858012A> G null L P 5056 5056 missense 0.957 probably damaging 0.06 tolerated 0 A0A075B730 EPPK1 Epiplakin ESP,TOPMed,gnomAD rs373810725 8q24.3 8 143858012A> C null L R 5056 5056 missense 0.957 probably damaging 0.12 tolerated 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782258238 8q24.3 8 143858013G> C null L V 5056 5056 missense 0.807 possibly damaging 0.15 tolerated 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1309981001 8q24.3 8 143858007G> A null L F 5058 5058 missense 0.958 probably damaging 0.04 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed,gnomAD rs1309981001 8q24.3 8 143858007G> C null L V 5058 5058 missense 0.705 possibly damaging 0.0 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657887 8q24.3 8 143858003G> C null S C 5059 5059 missense 0.852 possibly damaging 0.03 deleterious 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657887 8q24.3 8 143858003G> A null S F 5059 5059 missense 0.811 possibly damaging 0.02 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782523266 8q24.3 8 143858001G> A null L F 5060 5060 missense 0.453 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs782523266 8q24.3 8 143858001G> C null L V 5060 5060 missense 0.003 benign 0.87 tolerated 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657882 8q24.3 8 143857997G> C null S C 5061 5061 missense 0.463 possibly damaging 0.01 deleterious 0 A0A075B730 EPPK1 Epiplakin TOPMed rs1484331536 8q24.3 8 143857995G> C null L V 5062 5062 missense 0.14 benign 0.58 tolerated - low confidence 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657876 8q24.3 8 143857992G> A null Q * 5063 5063 stop gained 0 A0A075B730 EPPK1 Epiplakin gnomAD rs1554657873 8q24.3 8 143857987T> A null * C 5064 5064 stop lost 0 A0A075B730 EPPK1 Epiplakin ExAC,TOPMed,gnomAD rs781877700 8q24.3 8 143857989A> T null * R 5064 5064 stop lost 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed rs1166711277 16p12.2 16 22008318T> G null I S 6 6 missense 0.114 benign 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs958626940 16p12.2 16 22008317A> G null I V 6 6 missense 0.0 benign 0.76 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368259073 16p12.2 16 22008332C> A null L I 11 11 0.002796 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1276352870 16p12.2 16 22008347G> A null D N 16 16 missense 0.748 possibly damaging 0.11 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs770601867 16p12.2 16 22008356G> C null A P 19 19 missense 0.853 possibly damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs770601867 16p12.2 16 22008356G> A null A T 19 19 missense 0.654 possibly damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,gnomAD rs774026195 16p12.2 16 22008361C> G null I M 20 20 missense 0.405 benign 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1286662889 16p12.2 16 22008371G> A null A T 24 24 missense 0.553 possibly damaging 0.13 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1355224757 16p12.2 16 22008374A> C null N H 25 25 missense 0.005 benign 0.41 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs759307764 16p12.2 16 22008376C> G null N K 25 25 missense 0.062 benign 1.0 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1219695694 16p12.2 16 22008375A> G null N S 25 25 missense 0.005 benign 0.8 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1390940475 16p12.2 16 22008378C> T null P L 26 26 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1188348141 16p12.2 16 22008377C> T null P S 26 26 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed rs968378922 16p12.2 16 22008380G> C null D H 27 27 missense 0.559 possibly damaging 0.06 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1451777563 16p12.2 16 22008386A> G null I V 29 29 missense 0.005 benign 0.11 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1223340832 16p12.2 16 22008393C> A null T N 31 31 missense 0.062 benign 0.1 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs977168962 16p12.2 16 22008396G> A null G E 32 32 missense 0.605 possibly damaging 0.18 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1438227829 16p12.2 16 22008404G> T null A S 35 35 missense 0.028 benign 0.34 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein 1000Genomes,ExAC,gnomAD rs536353754 16p12.2 16 22008405C> T null A V 35 35 2.0E-4 missense 0.042 benign 0.11 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein Ensembl rs1567495907 16p12.2 16 22008407G> C null G R 36 36 missense 0.018 benign 0.02 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1176696973 16p12.2 16 22075490C> T null A V 37 37 missense 0.864 possibly damaging 0.1 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1439752412 16p12.2 16 22075492C> T null L F 38 38 missense 0.189 benign 0.1 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1159979455 16p12.2 16 22075499T> A null V E 40 40 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1347647438 16p12.2 16 22075505T> C null L P 42 42 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1293752053 16p12.2 16 22075507G> T null V L 43 43 missense 0.865 possibly damaging 0.5 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1293752053 16p12.2 16 22075507G> A null V M 43 43 missense 0.975 probably damaging 0.47 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs755818056 16p12.2 16 22075511G> A null R Q 44 44 missense 0.031 benign 0.49 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs754656655 16p12.2 16 22075515G> T null Q H 45 45 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein Ensembl rs998266498 16p12.2 16 22075514A> G null Q R 45 45 missense 0.979 probably damaging 0.06 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1329878214 16p12.2 16 22075517G> A null C Y 46 46 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,gnomAD rs745572263 16p12.2 16 22075535G> A null R Q 52 52 missense 0.99 probably damaging 0.12 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs771621057 16p12.2 16 22075538A> G null D G 53 53 missense 0.356 benign 0.11 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs771621057 16p12.2 16 22075538A> T null D V 53 53 missense 0.773 possibly damaging 0.03 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1266329460 16p12.2 16 22075541G> A null R Q 54 54 missense 0.99 probably damaging 0.6 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1244252311 16p12.2 16 22075540C> T null R W 54 54 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs779883703 16p12.2 16 22075544C> T null T M 55 55 missense 0.809 possibly damaging 0.08 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed rs1406406404 16p12.2 16 22075549A> C null I L 57 57 missense 0.183 benign 0.27 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1005815390 16p12.2 16 22075550T> A null I N 57 57 missense 0.775 possibly damaging 0.13 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1005815390 16p12.2 16 22075550T> C null I T 57 57 missense 0.05 benign 0.37 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs746748071 16p12.2 16 22075556C> T null P L 59 59 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs746748071 16p12.2 16 22075556C> G null P R 59 59 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs776514118 16p12.2 16 22075559G> A null R Q 60 60 missense 0.031 benign 0.51 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs768585177 16p12.2 16 22075558C> T null R W 60 60 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed rs1420038392 16p12.2 16 22075564C> A null P T 62 62 missense 0.998 probably damaging 0.12 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs780392936 16p12.2 16 22075568C> T null P L 63 63 missense 0.69 possibly damaging 0.07 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1463313959 16p12.2 16 22075573T> G null W G 65 65 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1400053710 16p12.2 16 22075577T> C null V A 66 66 missense 0.107 benign 0.01 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1329678467 16p12.2 16 22075576G> T null V F 66 66 missense 0.295 benign 0.16 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1300423076 16p12.2 16 22075585C> G null L V 69 69 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein 1000Genomes,TOPMed,gnomAD rs184432129 16p12.2 16 22075588T> C null F L 70 70 2.0E-4 missense 0.01 benign 0.54 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1313684019 16p12.2 16 22075597A> G null I V 73 73 missense 0.017 benign 0.37 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1217073505 16p12.2 16 22075604G> C null G A 75 75 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1257142369 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 16p12.2 16 22075613C> A null S * 78 78 stop gained 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1471374168 16p12.2 16 22075624A> G null T A 82 82 missense 0.203 benign 0.16 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1482629576 16p12.2 16 22075630G> A null G S 84 84 missense 0.922 probably damaging 0.04 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed rs1382998106 16p12.2 16 22075654C> T null R * 92 92 stop gained 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs376246482 16p12.2 16 22075655G> A null R Q 92 92 missense 0.479 possibly damaging 0.29 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs771094381 16p12.2 16 22075660G> A null E K 94 94 missense 0.879 possibly damaging 0.33 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1169534803 16p12.2 16 22075670A> G null K R 97 97 missense 0.022 benign 0.44 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein gnomAD rs1466531766 16p12.2 16 22075675G> A null A T 99 99 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs774267167 16p12.2 16 22075678C> T null R * 100 100 stop gained 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,TOPMed,gnomAD rs774267167 16p12.2 16 22075678C> G null R G 100 100 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1357979769 16p12.2 16 22075679G> A null R Q 100 100 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein ExAC,gnomAD rs759857146 16p12.2 16 22075690T> C null F L 104 104 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1455370327 16p12.2 16 22075694C> T null T I 105 105 missense 0.382 benign 0.02 deleterious 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1455370327 16p12.2 16 22075694C> G null T S 105 105 missense 0.291 benign 0.29 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed rs1157180049 16p12.2 16 22075697G> C null G A 106 106 missense 0.487 possibly damaging 0.94 tolerated 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed,gnomAD rs1451368014 16p12.2 16 22083679G> A null C Y 108 108 missense 0.03 benign 0.02 deleterious - low confidence 0 A0A075B731 MOSMO Modulator of smoothened protein TOPMed rs1244340345 16p12.2 16 22083685A> C null H P 110 110 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs1335255967 1q44 1 248745274G> A null P S 3 3 missense 0.935 probably damaging 0.13 tolerated - low confidence 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs1446095437 1q44 1 248745258G> C null S C 8 8 missense 0.941 probably damaging 0.01 deleterious - low confidence 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs928222648 1q44 1 248745251G> C null N K 10 10 missense 0.864 possibly damaging 0.01 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs972979893 1q44 1 248745250C> T null A T 11 11 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs1348439020 1q44 1 248745247C> T null E K 12 12 missense 0.807 possibly damaging 0.04 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs961591140 1q44 1 248745243C> A null C F 13 13 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs1279075741 1q44 1 248745242G> C null C W 13 13 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs910074910 1q44 1 248745234C> G null C S 16 16 missense 0.773 possibly damaging 0.0 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs910074910 1q44 1 248745234C> T null C Y 16 16 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs951809123 1q44 1 248745219C> A null G V 21 21 missense 0.988 probably damaging 0.22 tolerated 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs1183714625 1q44 1 248745210C> G null C S 24 24 missense 0.773 possibly damaging 0.0 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs62652287 1q44 1 248745207T> A null H L 25 25 missense 0.003 benign 0.39 tolerated 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs62652287 1q44 1 248745207T> C null H R 25 25 missense 0.0 benign 0.44 tolerated 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs1028703522 1q44 1 248745208G> A null H Y 25 25 missense 0.014 benign 0.26 tolerated 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs1404834978 1q44 1 248745199G> T null P T 28 28 missense 0.121 benign 0.66 tolerated 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs965712643 1q44 1 248745192T> C null K R 30 30 missense 0.049 benign 0.06 tolerated 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs1312549293 1q44 1 248745186T> C null Y C 32 32 missense 0.209 benign 0.0 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs1411816383 1q44 1 248745172A> G null C R 37 37 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs1286548606 1q44 1 248745154C> T null E K 43 43 missense 0.807 possibly damaging 0.02 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) Ensembl rs1558207202 1q44 1 248745144T> A null N I 46 46 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) Ensembl rs1558207198 1q44 1 248745142C> G null G R 47 47 missense 0.0 benign 0.08 tolerated 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1261520865 1q44 1 248722202G> A null T I 48 48 missense 0.936 probably damaging 0.0 deleterious 0 A0A075B732 null Uncharacterized protein (Fragment) Ensembl rs1023370452 1q44 1 248722196C> T null G D 50 50 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A075B732 null Uncharacterized protein (Fragment) Ensembl rs1012353593 1q44 1 248722190C> T null G D 52 52 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1487012854 1q44 1 248722187G> C null A G 53 53 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1487012854 1q44 1 248722187G> A null A V 53 53 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B732 null Uncharacterized protein (Fragment) TOPMed rs1486255819 1q44 1 248722183A> T null D E 54 54 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1264949685 2q11.1 2 94588526T> G null V G 2 2 missense 0.065 benign 0.09 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1221095878 2q11.1 2 94588534T> C null S P 5 5 missense 0.219 benign 0.33 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1344328544 2q11.1 2 94588538G> A null G E 6 6 missense 0.144 benign 0.47 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1296780555 2q11.1 2 94588547G> A null R Q 9 9 missense 0.113 benign 0.05 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1392763588 2q11.1 2 94588546C> T null R W 9 9 missense 0.068 benign 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1379193318 2q11.1 2 94594752G> A null R H 12 12 missense 0.03 benign 0.17 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1163753190 2q11.1 2 94594755G> T null G V 13 13 missense 0.009 benign 0.24 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1240952795 2q11.1 2 94594758C> T null S F 14 14 missense 0.137 benign 0.07 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1262982303 2q11.1 2 94594765G> A null M I 16 16 missense 0.131 benign 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1262982303 2q11.1 2 94594765G> T null M I 16 16 missense 0.131 benign 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1442252962 2q11.1 2 94594764T> C null M T 16 16 missense 0.076 benign 0.09 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1185865759 2q11.1 2 94594763A> G null M V 16 16 missense 0.046 benign 0.07 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1285409122 2q11.1 2 94594773G> T null W L 19 19 missense 0.143 benign 0.19 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1285409122 2q11.1 2 94594773G> C null W S 19 19 missense 0.006 benign 0.3 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1361852876 2q11.1 2 94594776C> A null S Y 20 20 missense 0.895 possibly damaging 0.03 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1243771100 2q11.1 2 94594778G> A null V M 21 21 missense 0.023 benign 0.55 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1326831291 2q11.1 2 94594784G> T null A S 23 23 missense 0.015 benign 0.65 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1320162172 2q11.1 2 94594789G> T null K N 24 24 missense 0.007 benign 0.15 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1398081586 2q11.1 2 94594792C> G null I M 25 25 missense 0.038 benign 0.29 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1303217536 2q11.1 2 94594794A> G null Q R 26 26 missense 0.066 benign 0.09 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1162304324 2q11.1 2 94594798A> T null E D 27 27 missense 0.003 benign 0.38 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1382979124 2q11.1 2 94594796G> A null E K 27 27 missense 0.005 benign 1.0 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1472649431 2q11.1 2 94594800T> C null I T 28 28 missense 0.005 benign 0.37 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1373994484 2q11.1 2 94594802T> G null W G 29 29 missense 0.117 benign 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1373994484 2q11.1 2 94594802T> A null W R 29 29 missense 0.117 benign 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1487586036 2q11.1 2 94594805T> A null C S 30 30 missense 0.3 benign 0.17 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1263181007 2q11.1 2 94594806G> A null C Y 30 30 missense 0.598 possibly damaging 0.11 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1223274683 2q11.1 2 94594816T> G null D E 33 33 missense 0.631 possibly damaging 1.0 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1490875743 2q11.1 2 94594817G> A null E K 34 34 missense 0.001 benign 0.35 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1209503693 2q11.1 2 94594832C> T null R * 39 39 stop gained 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1209503693 2q11.1 2 94594832C> G null R G 39 39 missense 0.767 possibly damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1216637717 2q11.1 2 94594833G> C null R P 39 39 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1216637717 2q11.1 2 94594833G> A null R Q 39 39 missense 0.115 benign 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1283897246 2q11.1 2 94594838T> A null F I 41 41 missense 0.969 probably damaging 0.3 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1406191408 2q11.1 2 94594840C> G null F L 41 41 missense 0.932 probably damaging 1.0 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1322387496 2q11.1 2 94594842T> C null L S 42 42 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1410191994 2q11.1 2 94594845C> A null A D 43 43 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1410191994 2q11.1 2 94594845C> T null A V 43 43 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1173266634 2q11.1 2 94594847G> T null E * 44 44 stop gained 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1423505602 2q11.1 2 94594848A> C null E A 44 44 missense 0.837 possibly damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1173266634 2q11.1 2 94594847G> A null E K 44 44 missense 0.214 benign 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1200811668 2q11.1 2 94594855G> T null M I 46 46 missense 0.031 benign 0.09 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1481437313 2q11.1 2 94594857G> A null S N 47 47 missense 0.96 probably damaging 0.04 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1245059453 2q11.1 2 94594859A> C null T P 48 48 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1438600408 2q11.1 2 94594873G> A null M I 52 52 missense 0.718 possibly damaging 0.24 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1397104771 2q11.1 2 94602498G> A null G S 55 55 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1192061139 2q11.1 2 94602499G> T null G V 55 55 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1432317102 2q11.1 2 94602501C> T null L F 56 56 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1250992922 2q11.1 2 94602504G> T null G C 57 57 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1250992922 2q11.1 2 94602504G> C null G R 57 57 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1273877133 2q11.1 2 94602513G> A null A T 60 60 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1349489607 2q11.1 2 94602523T> C null V A 63 63 missense 0.493 possibly damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1210950806 2q11.1 2 94602522G> C null V L 63 63 missense 0.046 benign 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1330823529 2q11.1 2 94602532A> G null K R 66 66 missense 0.145 benign 0.56 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1308203973 2q11.1 2 94602538A> G null Y C 68 68 missense 0.535 possibly damaging 0.06 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1308203973 2q11.1 2 94602538A> T null Y F 68 68 missense 0.0 benign 1.0 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1377359270 2q11.1 2 94602549C> T null L F 72 72 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1465751825 2q11.1 2 94602558A> C null N H 75 75 missense 1.0 probably damaging 0.07 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1364118641 2q11.1 2 94602559A> G null N S 75 75 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1183680531 2q11.1 2 94602564G> A null G S 77 77 missense 0.709 possibly damaging 0.07 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1250966844 2q11.1 2 94602571G> A null G D 79 79 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1417132526 2q11.1 2 94602570G> A null G S 79 79 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1277589327 2q11.1 2 94602576G> C null G R 81 81 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1199490535 2q11.1 2 94602579G> T null V F 82 82 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1199490535 2q11.1 2 94602579G> A null V I 82 82 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1262180332 2q11.1 2 94602582A> G null T A 83 83 missense 0.118 benign 0.14 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1241613721 2q11.1 2 94602586T> C null M T 84 84 missense 0.916 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1415955006 2q11.1 2 94602596C> A null H Q 87 87 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1332307848 2q11.1 2 94602597G> A null V M 88 88 missense 0.114 benign 0.21 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1385917506 2q11.1 2 94602606C> T null R C 91 91 missense 0.001 benign 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1385917506 2q11.1 2 94602606C> G null R G 91 91 missense 0.0 benign 1.0 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1455437385 2q11.1 2 94602607G> A null R H 91 91 missense 0.001 benign 0.04 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1165485805 2q11.1 2 94602611C> G null I M 92 92 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1410953884 2q11.1 2 94602610T> C null I T 92 92 missense 0.048 benign 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein Ensembl rs1558988122 2q11.1 2 94603039G> T null A S 95 95 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1234583894 2q11.1 2 94603049A> G null N S 98 98 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1331987577 2q11.1 2 94603054G> T null A S 100 100 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1303897410 2q11.1 2 94603055C> T null A V 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1309228666 2q11.1 2 94603060A> G null T A 102 102 missense 0.574 possibly damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1435605611 2q11.1 2 94603073G> T null C F 106 106 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1435605611 2q11.1 2 94603073G> C null C S 106 106 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1173673186 2q11.1 2 94603076C> G null A G 107 107 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1481751728 2q11.1 2 94603084C> T null R C 110 110 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1250449904 2q11.1 2 94603085G> A null R H 110 110 missense 0.089 benign 0.05 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1253929998 2q11.1 2 94603087G> T null V L 111 111 missense 0.003 benign 1.0 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1231509570 2q11.1 2 94603091C> T null P L 112 112 missense 0.569 possibly damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1289464155 2q11.1 2 94603095G> A null W * 113 113 stop gained 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1312044637 2q11.1 2 94603093T> C null W R 113 113 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1412251089 2q11.1 2 94603101G> T null K N 115 115 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1348667002 2q11.1 2 94603109T> C null V A 118 118 missense 0.963 probably damaging 0.36 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1307465856 2q11.1 2 94603112A> G null H R 119 119 missense 0.003 benign 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1301386181 2q11.1 2 94603123C> T null Q * 123 123 stop gained 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1301386181 2q11.1 2 94603123C> A null Q K 123 123 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1161219958 2q11.1 2 94603133G> C null G A 126 126 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1471585012 2q11.1 2 94603138T> A null F I 128 128 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1188017748 2q11.1 2 94603154C> T null T I 133 133 missense 0.989 probably damaging 0.13 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1253636665 2q11.1 2 94603158C> G null I M 134 134 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1437441726 2q11.1 2 94603379G> A null A T 140 140 missense 0.003 benign 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1279677159 2q11.1 2 94603383C> A null A E 141 141 missense 0.003 benign 0.36 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1279677159 2q11.1 2 94603383C> G null A G 141 141 missense 0.0 benign 0.13 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1279677159 2q11.1 2 94603383C> T null A V 141 141 missense 0.015 benign 0.05 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1228955915 2q11.1 2 94603385G> A null A T 142 142 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1351753550 2q11.1 2 94603386C> T null A V 142 142 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1305606063 2q11.1 2 94603394C> T null H Y 145 145 missense 0.789 possibly damaging 0.04 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1359363386 2q11.1 2 94603401C> T null S L 147 147 missense 0.774 possibly damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1176275233 2q11.1 2 94603406G> A null G R 149 149 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1180090717 2q11.1 2 94603418G> C null V L 153 153 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1416454310 2q11.1 2 94603420_94603421insGAGAGCTGATGGT G null T E 154 154 stop gained 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1440435684 2q11.1 2 94603424G> T null G C 155 155 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1331103290 2q11.1 2 94603425G> A null G D 155 155 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1440435684 2q11.1 2 94603424G> C null G R 155 155 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1440435684 2q11.1 2 94603424G> A null G S 155 155 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1286438684 2q11.1 2 94603434C> T null A V 158 158 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1227237358 2q11.1 2 94603443G> A null G D 161 161 missense 0.166 benign 0.05 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1379267919 2q11.1 2 94603452C> T null A V 164 164 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1285531697 2q11.1 2 94603454A> G null T A 165 165 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1445385310 2q11.1 2 94603460C> T null L F 167 167 missense 0.998 probably damaging 0.17 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1445385310 2q11.1 2 94603460C> A null L I 167 167 missense 0.996 probably damaging 0.33 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein Ensembl rs1558988335 2q11.1 2 94603467A> G null D G 169 169 missense 0.02 benign 0.19 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1336461479 2q11.1 2 94603474G> A null M I 171 171 missense 0.774 possibly damaging 0.04 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1458152389 2q11.1 2 94603476C> T null T I 172 172 missense 0.533 possibly damaging 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1157598896 2q11.1 2 94603483G> A null W * 174 174 stop gained 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1414659141 2q11.1 2 94603485G> A null R Q 175 175 missense 0.062 benign 0.6 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1418523555 2q11.1 2 94603484C> T null R W 175 175 missense 0.02 benign 0.24 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1183781115 2q11.1 2 94603487G> T null G C 176 176 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1183781115 2q11.1 2 94603487G> A null G S 176 176 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1344918210 2q11.1 2 94603712G> A null E K 181 181 missense 0.04 benign 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1411798670 2q11.1 2 94603717G> A null W * 182 182 stop gained 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1308681448 2q11.1 2 94603716G> C null W S 182 182 missense 0.309 benign 0.03 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein Ensembl rs1558988473 2q11.1 2 94603726G> T null R S 185 185 missense 0.0 benign 0.1 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1297826685 2q11.1 2 94603725G> C null R T 185 185 missense 0.0 benign 0.05 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1173823609 2q11.1 2 94603735G> C null Q H 188 188 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1379178808 2q11.1 2 94603734A> G null Q R 188 188 missense 0.977 probably damaging 0.03 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1183694937 2q11.1 2 94603742C> T null L F 191 191 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1249297567 2q11.1 2 94603748A> G null T A 193 193 missense 0.0 benign 1.0 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1249297567 2q11.1 2 94603748A> C null T P 193 193 missense 0.003 benign 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1483754593 2q11.1 2 94603755C> T null T M 195 195 missense 0.285 benign 0.23 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1202215008 2q11.1 2 94603759C> G null D E 196 196 missense 0.774 possibly damaging 0.03 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1289600783 2q11.1 2 94603766A> G null N D 199 199 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1230234901 2q11.1 2 94603768C> A null N K 199 199 missense 0.873 possibly damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1334072880 2q11.1 2 94603771C> G null N K 200 200 missense 0.889 possibly damaging 0.13 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1396862904 2q11.1 2 94603772C> G null P A 201 201 missense 0.046 benign 0.25 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1389276909 2q11.1 2 94603779T> G null L R 203 203 missense 0.851 possibly damaging 0.04 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1334426658 2q11.1 2 94603778C> G null L V 203 203 missense 0.696 possibly damaging 0.18 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1161284046 2q11.1 2 94603785G> C null G A 205 205 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1161284046 2q11.1 2 94603785G> A null G E 205 205 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1425152526 2q11.1 2 94603793G> A null A T 208 208 missense 0.068 benign 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1253701700 2q11.1 2 94603794C> T null A V 208 208 missense 0.581 possibly damaging 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1269256874 2q11.1 2 94603800T> G null V G 210 210 missense 0.96 probably damaging 0.02 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1461150108 2q11.1 2 94603799G> A null V M 210 210 missense 0.874 possibly damaging 0.03 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1211152593 2q11.1 2 94603805A> G null S G 212 212 missense 0.0 benign 1.0 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1348581959 2q11.1 2 94603806G> A null S N 212 212 missense 0.001 benign 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1260190388 2q11.1 2 94603814G> A null V M 215 215 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1342476512 2q11.1 2 94603821T> A null I N 217 217 missense 0.69 possibly damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1313270326 2q11.1 2 94603828G> C null R S 219 219 missense 0.027 benign 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1365674370 2q11.1 2 94603829G> T null V L 220 220 missense 0.031 benign 0.49 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1398913055 2q11.1 2 94603836A> G null H R 222 222 missense 0.155 benign 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1384212023 2q11.1 2 94603839G> A null G D 223 223 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1459044379 2q11.1 2 94603842T> C null I T 224 224 missense 0.055 benign 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1382935286 2q11.1 2 94603851G> A null G E 227 227 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1382935286 2q11.1 2 94603851G> T null G V 227 227 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1444342625 2q11.1 2 94603860T> G null I S 230 230 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1190956018 2q11.1 2 94603863A> G null N S 231 231 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1261716461 2q11.1 2 94603869C> T null S F 233 233 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1358562588 2q11.1 2 94603872G> A null R Q 234 234 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1210509831 2q11.1 2 94603871C> T null R W 234 234 missense 0.063 benign 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1289785312 2q11.1 2 94603876C> A null D E 235 235 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1299505461 2q11.1 2 94603883C> T null P S 238 238 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1428439890 2q11.1 2 94603889A> G null I V 240 240 missense 0.001 benign 0.61 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1325772455 2q11.1 2 94603893T> C null F S 241 241 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1324200531 2q11.1 2 94603901A> G null I V 244 244 missense 0.015 benign 0.11 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1387948280 2q11.1 2 94603904G> A null A T 245 245 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1363192451 2q11.1 2 94603912G> A null W * 247 247 stop gained 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1302101692 2q11.1 2 94603913G> T null G C 248 248 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1429965551 2q11.1 2 94603916A> C null K Q 249 249 missense 0.061 benign 0.59 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1391687532 2q11.1 2 94603923T> C null V A 251 251 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1431429535 2q11.1 2 94604289G> A null D N 254 254 missense 0.003 benign 0.1 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1196641994 2q11.1 2 94604292G> A null G R 255 255 missense 0.066 benign 0.05 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein Ensembl rs3967459 2q11.1 2 94604302G> T null W L 258 258 missense 0.139 benign 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1252010022 2q11.1 2 94604309G> T null W C 260 260 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1479825224 2q11.1 2 94604307T> G null W G 260 260 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1197202249 2q11.1 2 94604313C> T null P S 262 262 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1481797854 2q11.1 2 94604316G> A null V M 263 263 missense 0.519 possibly damaging 0.01 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1249948932 2q11.1 2 94604325C> T null P S 266 266 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1307919045 2q11.1 2 94604335G> A null G D 269 269 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1221694983 2q11.1 2 94604334G> C null G R 269 269 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1221694983 2q11.1 2 94604334G> A null G S 269 269 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1307919045 2q11.1 2 94604335G> T null G V 269 269 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1371514157 2q11.1 2 94604337G> T null A S 270 270 missense 0.606 possibly damaging 0.4 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1297380171 2q11.1 2 94604343C> G null L V 272 272 missense 0.124 benign 0.38 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1408120151 2q11.1 2 94604358T> C null Y H 277 277 missense 0.529 possibly damaging 0.08 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1174198642 2q11.1 2 94604364G> A null V I 279 279 missense 0.062 benign 0.36 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1468785557 2q11.1 2 94604370A> T null I F 281 281 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1412101838 2q11.1 2 94604382A> G null I V 285 285 missense 0.009 benign 0.7 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1183401477 2q11.1 2 94604388C> G null R G 287 287 missense 0.546 possibly damaging 0.22 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1183401477 2q11.1 2 94604388C> T null R W 287 287 missense 0.044 benign 0.1 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1249458064 2q11.1 2 94604391G> A null E K 288 288 missense 0.031 benign 0.3 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1249458064 2q11.1 2 94604391G> C null E Q 288 288 missense 0.194 benign 0.14 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1245449838 2q11.1 2 94604401A> T null K I 291 291 missense 0.006 benign 0.28 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1202353810 2q11.1 2 94604411C> G null D E 294 294 missense 0.031 benign 0.62 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1322864465 2q11.1 2 94604419C> T null A V 297 297 missense 0.003 benign 0.54 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1315343821 2q11.1 2 94604421T> G null Y D 298 298 missense 0.203 benign 0.19 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1453022453 2q11.1 2 94604433G> A null G R 302 302 missense 0.003 benign 0.99 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1334556753 2q11.1 2 94604442G> T null V L 305 305 missense 0.018 benign 0.05 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1451782687 2q11.1 2 94604448C> A null P T 307 307 missense 0.176 benign 0.09 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1385648154 2q11.1 2 94604455T> C null M T 309 309 missense 0.0 benign 1.0 tolerated 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1159785231 2q11.1 2 94604458G> A null G E 310 310 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1451084954 2q11.1 2 94604464A> G null H R 312 312 missense 0.007 benign 0.16 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1163846586 2q11.1 2 94604470C> A null P H 314 314 missense 0.005 benign 0.12 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1245390972 2q11.1 2 94604473T> A null M K 315 315 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1461253138 2q11.1 2 94604479C> G null S C 317 317 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1484941166 2q11.1 2 94604481C> T null P S 318 318 missense 0.006 benign 0.7 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1247026634 2q11.1 2 94604485T> C null L P 319 319 missense 0.07 benign 0.11 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1361910047 2q11.1 2 94604488C> A null T N 320 320 missense 0.137 benign 0.09 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1245055141 2q11.1 2 94604490C> T null L F 321 321 missense 0.281 benign 0.2 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1326952949 2q11.1 2 94604493A> G null I V 322 322 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1379969764 2q11.1 2 94604499G> A null V M 324 324 missense 0.091 benign 0.09 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein Ensembl rs4056299 2q11.1 2 94604506T> C null L P 326 326 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1383648274 2q11.1 2 94604513C> G null N K 328 328 missense 0.009 benign 0.19 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1426131639 2q11.1 2 94604517T> C null S P 330 330 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein Ensembl rs4056298 2q11.1 2 94604529T> C null S P 334 334 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1472676524 2q11.1 2 94604533C> A null A D 335 335 missense 0.02 benign 0.26 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1374077373 2q11.1 2 94604535C> T null P S 336 336 missense 0.237 benign 0.13 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1261086075 2q11.1 2 94604544C> T null H Y 339 339 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1490899339 2q11.1 2 94604557C> T null A V 343 343 missense 0.09 benign 0.48 tolerated - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1221378223 2q11.1 2 94604560T> G null L R 344 344 missense 0.755 possibly damaging 0.0 deleterious - low confidence 0 A0A075B734 LOC100509620 Uncharacterized protein TOPMed rs1339849165 2q11.1 2 94604570C> A null F L 347 347 missense 0.17 benign 0.14 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain Ensembl,dbSNP rs869025273 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 pubmed:26789871 10p15.3 10 49234C> T null R K 2 2 missense 0.14 benign 0.0 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) MIM:616780 ClinVar:RCV000207037 A0A075B735 TUBB8 Tubulin beta-8 chain Ensembl,dbSNP rs869025273 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 pubmed:26789871 10p15.3 10 49234C> T null R K 2 2 missense 0.14 benign 0.0 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs199817418 10p15.3 10 49229T> G null I L 4 4 missense 0.068 benign 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782657768 10p15.3 10 49228A> G null I T 4 4 missense 0.291 benign 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1299875180 10p15.3 10 49226C> A null V L 5 5 missense 0.315 benign 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554739056 10p15.3 10 49219G> A null T M 7 7 missense 0.012 benign 0.19 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed rs1340088110 10p15.3 10 49220T> A null T S 7 7 missense 0.009 benign 0.3 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs199981930 10p15.3 10 49213A> G null I T 9 9 missense 0.0 benign 0.36 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain Ensembl rs200919246 10p15.3 10 49214T> C null I V 9 9 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782066604 10p15.3 10 49211C> T null G R 10 10 missense 0.647 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782066604 10p15.3 10 49211C> A null G W 10 10 missense 0.934 probably damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1219810899 10p15.3 10 49208G> A null Q * 11 11 stop gained 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs201477872 10p15.3 10 49203G> T null C * 12 12 stop gained 0 A0A075B735 TUBB8 Tubulin beta-8 chain Ensembl rs1554739047 10p15.3 10 49204C> T null C Y 12 12 missense 0.588 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554739045 10p15.3 10 49202C> T null G R 13 13 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed rs1467728799 10p15.3 10 49196G> A null Q * 15 15 stop gained 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554739042 10p15.3 10 49191G> C null I M 16 16 missense 0.655 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554739041 10p15.3 10 49190C> T null G S 17 17 missense 0.935 probably damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed rs1391508431 10p15.3 10 49182C> A null K N 19 19 missense 0.261 benign 0.04 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781796292 10p15.3 10 48725C> G null V L 20 20 missense 0.205 benign 0.25 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1320330977 10p15.3 10 48722C> A null A S 21 21 missense 0.578 possibly damaging 0.74 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1320330977 10p15.3 10 48722C> T null A T 21 21 missense 0.691 possibly damaging 0.57 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,gnomAD rs551675758 10p15.3 10 48721G> A null A V 21 21 2.0E-4 missense 0.691 possibly damaging 0.53 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738828 10p15.3 10 48718C> T null G D 22 22 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782042666 10p15.3 10 48719C> T null G S 22 22 missense 0.0 benign 0.81 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138641173 10p15.3 10 48715G> A null T M 23 23 0.001597 missense 0.895 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138641173 10p15.3 10 48715G> C null T R 23 23 0.001597 missense 0.711 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs377568434 10p15.3 10 48712C> T null C Y 24 24 missense 0.598 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738823 10p15.3 10 48709G> A null P L 25 25 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738821 10p15.3 10 48706G> A null A V 26 26 missense 0.691 possibly damaging 0.17 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738820 10p15.3 10 48703A> G null L P 27 27 missense 0.887 possibly damaging 0.22 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1231828727 10p15.3 10 48697G> A null S L 29 29 missense 0.514 possibly damaging 0.42 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1291110595 10p15.3 10 48694C> T null W * 30 30 stop gained 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782197532 10p15.3 10 48692T> C null I V 31 31 missense 0.071 benign 1.0 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782017474 10p15.3 10 48688C> T null W * 32 32 stop gained 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782422520 10p15.3 10 48685C> T null S N 33 33 missense 0.393 benign 0.74 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782473605 10p15.3 10 48682C> G null R P 34 34 missense 0.516 possibly damaging 0.23 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782473605 10p15.3 10 48682C> T null R Q 34 34 missense 0.412 benign 0.41 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782247878 10p15.3 10 48683G> A null R W 34 34 missense 0.833 possibly damaging 0.03 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738813 10p15.3 10 48680C> T null A T 35 35 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782220522 10p15.3 10 48679G> A null A V 35 35 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782574116 10p15.3 10 48676G> T null P Q 36 36 missense 0.908 possibly damaging 0.02 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738810 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48672C> T null W * 37 37 missense 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781896851 10p15.3 10 48670G> A null T I 38 38 missense 0.711 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782458615 10p15.3 10 48671T> G null T P 38 38 missense 0.711 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs150100936 10p15.3 10 48667A> G null L P 39 39 missense 0.887 possibly damaging 0.03 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,NCI-TCGA,TOPMed,gnomAD rs781874733 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48662C> T null A T 41 41 missense 0.691 possibly damaging 0.2 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140792516 10p15.3 10 48659G> C null R G 42 42 0.001797 missense 0.3 benign 0.26 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140792516 10p15.3 10 48659G> A null R W 42 42 0.001797 missense 0.833 possibly damaging 0.05 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs781931730 10p15.3 10 48655C> G null G A 43 43 missense 0.902 possibly damaging 0.82 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs781931730 10p15.3 10 48655C> T null G D 43 43 missense 0.97 probably damaging 0.04 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782166375 10p15.3 10 48652G> A null P L 44 44 missense 0.856 possibly damaging 0.66 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738799 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48653G> A null P S 44 44 missense 0.81 possibly damaging 0.21 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782384848 10p15.3 10 48649G> A null S L 45 45 missense 0.514 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782384848 10p15.3 10 48649G> C null S W 45 45 missense 0.883 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782209304 10p15.3 10 48646C> T null G D 46 46 missense 0.97 probably damaging 0.19 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781965051 10p15.3 10 48643C> T null R K 47 47 missense 0.146 benign 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782198535 10p15.3 10 48640G> C null S C 48 48 missense 0.848 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782198535 10p15.3 10 48640G> A null S F 48 48 missense 0.692 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782662677 10p15.3 10 48631T> C null Q R 51 51 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs137861850 10p15.3 10 48628G> A null T I 52 52 5.99E-4 missense 0.711 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145350711 10p15.3 10 48622G> A null S L 54 54 3.99E-4 missense 0.514 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs201828096 10p15.3 10 48619G> A null S F 55 55 missense 0.692 possibly damaging 0.06 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs201828096 10p15.3 10 48619G> T null S Y 55 55 missense 0.788 possibly damaging 0.07 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782710819 10p15.3 10 48616G> T null S * 56 56 missense 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782710819 10p15.3 10 48616G> A null S L 56 56 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs781838913 10p15.3 10 48617A> G null S P 56 56 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed rs1377716023 10p15.3 10 48111T> C null S G 58 58 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738609 10p15.3 10 48105C> T null G R 60 60 missense 0.98 probably damaging 0.26 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738609 10p15.3 10 48105C> A null G W 60 60 missense 0.985 probably damaging 0.02 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140274064 10p15.3 10 48101G> A null P L 61 61 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140274064 10p15.3 10 48101G> T null P Q 61 61 missense 0.908 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738607 10p15.3 10 48098T> G null E A 62 62 missense 0.497 possibly damaging 0.58 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,TOPMed,gnomAD rs561705922 10p15.3 10 48093T> C null T A 64 64 2.0E-4 missense 0.398 benign 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782039407 10p15.3 10 48092G> A null T I 64 64 missense 0.711 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782039407 10p15.3 10 48092G> T null T N 64 64 missense 0.617 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs151304401 10p15.3 10 48090C> G null G R 65 65 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ESP,ExAC,TOPMed,gnomAD rs151304401 10p15.3 10 48090C> A null G W 65 65 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10904032 10p15.3 10 48086G> A null P L 66 66 missense 0.856 possibly damaging 0.29 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10904032 10p15.3 10 48086G> T null P Q 66 66 missense 0.908 possibly damaging 0.54 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1208436307 10p15.3 10 48083C> T null R K 67 67 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain TOPMed,gnomAD rs1208436307 10p15.3 10 48083C> A null R M 67 67 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs9329307 10p15.3 10 48078T> C null T A 69 69 missense 0.398 benign 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs9329307 10p15.3 10 48078T> G null T P 69 69 missense 0.711 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs9329307 10p15.3 10 48078T> A null T S 69 69 missense 0.497 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782307404 10p15.3 10 48071G> A null P L 71 71 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782307404 10p15.3 10 48071G> T null P Q 71 71 missense 0.0 benign 0.42 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782307404 10p15.3 10 48071G> C null P R 71 71 missense 0.0 benign 0.8 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738591 10p15.3 10 48069T> G null K Q 72 72 missense 0.617 possibly damaging 0.13 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain gnomAD rs1554738589 10p15.3 10 48068T> C null K R 72 72 missense 0.497 possibly damaging 1.0 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs368995010 10p15.3 10 48066C> A null A S 73 73 missense 0.578 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs368995010 10p15.3 10 48066C> T null A T 73 73 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs374716232 10p15.3 10 48065G> A null A V 73 73 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,TOPMed,gnomAD rs189074154 10p15.3 10 48062C> A null R L 74 74 3.99E-4 missense 0.3 benign 0.13 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain 1000Genomes,ExAC,TOPMed,gnomAD rs189074154 10p15.3 10 48062C> T null R Q 74 74 3.99E-4 missense 0.412 benign 0.84 tolerated - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,TOPMed,gnomAD rs782479203 10p15.3 10 48063G> A null R W 74 74 missense 0.833 possibly damaging 0.02 deleterious - low confidence 0 A0A075B735 TUBB8 Tubulin beta-8 chain ExAC,gnomAD rs782705807 10p15.3 10 48059C> T null S N 75 75 missense 0.393 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025273 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 pubmed:26789871 10p15.3 10 49234C> T null R K 2 2 missense 0.745 possibly damaging 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) MIM:616780 ClinVar:RCV000207037 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025273 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 pubmed:26789871 10p15.3 10 49234C> T null R K 2 2 missense 0.745 possibly damaging 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs199817418 10p15.3 10 49229T> G null I L 4 4 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782657768 10p15.3 10 49228A> G null I T 4 4 missense 0.165 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1299875180 10p15.3 10 49226C> A null V L 5 5 missense 0.964 probably damaging 0.07 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554739056 10p15.3 10 49219G> A null T M 7 7 missense 0.038 benign 0.06 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1340088110 10p15.3 10 49220T> A null T S 7 7 missense 0.228 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs199981930 10p15.3 10 49213A> G null I T 9 9 missense 0.0 benign 0.47 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl rs200919246 10p15.3 10 49214T> C null I V 9 9 missense 0.003 benign 0.27 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782066604 10p15.3 10 49211C> T null G R 10 10 missense 0.036 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782066604 10p15.3 10 49211C> A null G W 10 10 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1219810899 10p15.3 10 49208G> A null Q * 11 11 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs201477872 10p15.3 10 49203G> T null C * 12 12 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl rs1554739047 10p15.3 10 49204C> T null C Y 12 12 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554739045 10p15.3 10 49202C> T null G R 13 13 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1467728799 10p15.3 10 49196G> A null Q * 15 15 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554739042 10p15.3 10 49191G> C null I M 16 16 missense 0.989 probably damaging 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554739041 10p15.3 10 49190C> T null G S 17 17 missense 0.01 benign 0.05 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1391508431 10p15.3 10 49182C> A null K N 19 19 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs371572684 10p15.3 10 48908C> T null W * 21 21 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782378907 10p15.3 10 48909A> G null W R 21 21 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1156426805 10p15.3 10 48905T> C null E G 22 22 missense 0.982 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738917 10p15.3 10 48906C> T null E K 22 22 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738915 10p15.3 10 48902A> T null V E 23 23 missense 0.315 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781964423 10p15.3 10 48896G> A null S F 25 25 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738912 10p15.3 10 48894C> T null D N 26 26 missense 0.989 probably damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782190891 10p15.3 10 48886A> C null H Q 28 28 missense 0.967 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782303131 10p15.3 10 48888G> A null H Y 28 28 missense 0.932 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782672679 10p15.3 10 48884G> A null A V 29 29 missense 0.321 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782646758 10p15.3 10 48877G> C null D E 31 31 missense 0.013 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs34828119 10p15.3 10 48879C> G null D H 31 31 missense 0.91 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain NCI-TCGA,gnomAD rs34828119 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48879C> T null D N 31 31 missense 0.396 benign 0.08 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs368410155 10p15.3 10 48878T> A null D V 31 31 missense 0.66 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782471513 10p15.3 10 48872G> C null A G 33 33 missense 0.087 benign 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,NCI-TCGA,TOPMed,gnomAD rs782698324 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48873C> A null A S 33 33 missense 0.111 benign 0.39 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782698324 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48873C> T null A T 33 33 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782471513 10p15.3 10 48872G> A null A V 33 33 missense 0.003 benign 0.07 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1254452632 10p15.3 10 48862G> C null Y * 36 36 missense 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781887693 10p15.3 10 48861G> A null H Y 37 37 missense 0.227 benign 0.4 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738894 10p15.3 10 48853G> C null D E 39 39 missense 0.983 probably damaging 0.14 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782122091 10p15.3 10 48854T> C null D G 39 39 missense 0.989 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738893 10p15.3 10 48849G> A null H Y 41 41 missense 0.046 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,TOPMed,gnomAD rs536693166 10p15.3 10 48846G> C null L V 42 42 3.99E-4 missense 0.29 benign 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738888 10p15.3 10 48833C> T null R H 46 46 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738888 10p15.3 10 48833C> G null R P 46 46 missense 0.428 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782400971 10p15.3 10 48831T> C null I V 47 47 missense 0.029 benign 0.06 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,gnomAD rs577701532 10p15.3 10 48827T> C null N S 48 48 2.0E-4 missense 0.067 benign 0.34 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1439749193 10p15.3 10 48822A> G null Y H 50 50 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1297880577 10p15.3 10 48819A> G null Y H 51 51 missense 0.992 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782386217 10p15.3 10 48816T> C null N D 52 52 missense 0.178 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782386217 10p15.3 10 48816T> G null N H 52 52 missense 0.683 possibly damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782209980 10p15.3 10 48814G> C null N K 52 52 missense 0.013 benign 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1301386728 10p15.3 10 48815T> C null N S 52 52 missense 0.132 benign 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl rs868955371 10p15.3 10 48813C> T null E K 53 53 missense 0.974 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,gnomAD rs375210323 10p15.3 10 48809G> A null A V 54 54 missense 0.005 benign 0.09 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1277304584 10p15.3 10 48806C> T null S N 55 55 missense 0.152 benign 0.16 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,TOPMed,gnomAD rs558117453 10p15.3 10 48804C> T null G S 56 56 3.99E-4 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1377716023 10p15.3 10 48111T> C null Q R 57 57 missense 0.728 possibly damaging 0.05 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738611 10p15.3 10 48109A> G null C R 58 58 missense 0.041 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738609 10p15.3 10 48105C> T null G E 59 59 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738609 10p15.3 10 48105C> A null G V 59 59 missense 0.993 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1339474843 10p15.3 10 48100C> T null G R 61 61 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782039407 10p15.3 10 48092G> T null N K 63 63 missense 0.913 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,TOPMed,gnomAD rs561705922 10p15.3 10 48093T> C null N S 63 63 2.0E-4 missense 0.874 possibly damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs151304401 10p15.3 10 48090C> A null W L 64 64 missense 0.876 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs151304401 10p15.3 10 48090C> G null W S 64 64 missense 0.942 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs143154682 10p15.3 10 48085T> C null K E 66 66 missense 0.621 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1208436307 10p15.3 10 48083C> A null K N 66 66 missense 0.728 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs9329307 10p15.3 10 48078T> A null H L 68 68 missense 0.537 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs9329307 10p15.3 10 48078T> G null H P 68 68 missense 0.537 possibly damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs9329307 10p15.3 10 48078T> C null H R 68 68 missense 0.537 possibly damaging 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1278237587 10p15.3 10 48079G> A null H Y 68 68 missense 0.415 benign 0.09 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738591 10p15.3 10 48069T> G null E A 71 71 missense 0.621 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,TOPMed,gnomAD rs541770879 10p15.3 10 48070C> T null E K 71 71 2.0E-4 missense 0.635 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs368995010 10p15.3 10 48066C> T null G D 72 72 missense 0.982 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738587 10p15.3 10 48067C> T null G S 72 72 missense 0.959 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs368995010 10p15.3 10 48066C> A null G V 72 72 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs145405488 10p15.3 10 48064C> A null A S 73 73 missense 0.808 possibly damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs145405488 10p15.3 10 48064C> T null A T 73 73 missense 0.798 possibly damaging 0.06 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782479203 10p15.3 10 48063G> A null A V 73 73 missense 0.798 possibly damaging 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738576 10p15.3 10 48061C> T null E K 74 74 missense 0.621 possibly damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs61839058 10p15.3 10 48054A> G null M T 76 76 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782781323 10p15.3 10 48050C> G null E D 77 77 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738570 10p15.3 10 48049A> G null S P 78 78 missense 0.637 possibly damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1230925156 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 48041C> T null M I 80 80 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs75953774 10p15.3 10 48038G> C null D E 81 81 missense 0.841 possibly damaging 0.09 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1274052649 10p15.3 10 48040C> G null D H 81 81 missense 0.961 probably damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs147863681 10p15.3 10 48037C> T null V I 82 82 missense 0.312 benign 0.06 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781946165 10p15.3 10 48033A> C null V G 83 83 missense 0.637 possibly damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1214362808 10p15.3 10 48030C> T null R K 84 84 missense 0.22 benign 0.05 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738558 10p15.3 10 48028T> G null K Q 85 85 missense 0.728 possibly damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,gnomAD rs562343372 10p15.3 10 48025C> G null E Q 86 86 2.0E-4 missense 0.728 possibly damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1254920626 10p15.3 10 48022C> T null A T 87 87 missense 0.787 possibly damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs781995143 10p15.3 10 48019C> G null E Q 88 88 missense 0.728 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782327504 10p15.3 10 48008G> T null D E 91 91 missense 0.918 probably damaging 0.06 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782327504 10p15.3 10 48008G> C null D E 91 91 missense 0.918 probably damaging 0.06 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738548 10p15.3 10 48010C> T null D N 91 91 missense 0.945 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144740103 10p15.3 10 48003A> G null L P 93 93 0.005391 missense 0.973 probably damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144740103 10p15.3 10 48003A> C null L R 93 93 0.005391 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1464686316 10p15.3 10 48000T> A null Q L 94 94 missense 0.932 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782492611 10p15.3 10 47998C> G null G R 95 95 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs781874949 10p15.3 10 47997C> A null G V 95 95 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782490337 10p15.3 10 47992G> A null Q * 97 97 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs9329306 10p15.3 10 47990C> G null Q H 97 97 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782719920 10p15.3 10 47989G> T null L M 98 98 missense 0.992 probably damaging 0.06 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782787897 10p15.3 10 47983G> A null H Y 100 100 missense 0.227 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782067330 10p15.3 10 47974C> G null G R 103 103 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782417208 10p15.3 10 47971C> T null G R 104 104 missense 0.798 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782417208 10p15.3 10 47971C> G null G R 104 104 missense 0.798 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782417208 10p15.3 10 47971C> A null G W 104 104 missense 0.021 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782226118 10p15.3 10 47958G> C null S C 108 108 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782580179 10p15.3 10 47956C> G null G R 109 109 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782463920 10p15.3 10 47955C> A null G V 109 109 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,TOPMed,gnomAD rs535102461 10p15.3 10 47953T> A null M L 110 110 2.0E-4 missense 0.59 possibly damaging 0.2 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1419399449 10p15.3 10 47949C> G null G A 111 111 missense 0.995 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782508826 10p15.3 10 47946G> A null T I 112 112 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782508826 10p15.3 10 47946G> T null T N 112 112 missense 0.092 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781815712 10p15.3 10 47944G> A null L F 113 113 missense 0.992 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1385541214 10p15.3 10 47940A> C null L R 114 114 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782796368 10p15.3 10 47938G> A null L F 115 115 missense 0.19 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782796368 10p15.3 10 47938G> T null L I 115 115 missense 0.003 benign 1.0 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781980231 10p15.3 10 47934C> T null S N 116 116 missense 0.001 benign 0.1 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738482 10p15.3 10 47931T> G null K T 117 117 missense 0.982 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782083940 10p15.3 10 47929T> C null I V 118 118 missense 0.001 benign 0.09 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs141258404 10p15.3 10 47926G> C null R G 119 119 missense 0.104 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs148702036 10p15.3 10 47925C> A null R L 119 119 missense 0.075 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs148702036 10p15.3 10 47925C> G null R P 119 119 missense 0.434 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs148702036 10p15.3 10 47925C> T null R Q 119 119 missense 0.092 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs141258404 10p15.3 10 47926G> A null R W 119 119 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1353509648 10p15.3 10 47922T> A null E V 120 120 missense 0.987 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782194450 10p15.3 10 47920C> T null E K 121 121 missense 0.973 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782027920 10p15.3 10 47916T> C null Y C 122 122 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1215025799 10p15.3 10 47917A> C null Y D 122 122 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1486165841 10p15.3 10 47910T> C null D G 124 124 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs370178489 10p15.3 10 47907C> T null R K 125 125 missense 0.92 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782491834 10p15.3 10 47906C> A null R S 125 125 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738456 10p15.3 10 47905T> C null I V 126 126 missense 0.768 possibly damaging 0.05 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782587683 10p15.3 10 47902T> C null I V 127 127 missense 0.043 benign 0.05 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1363818416 10p15.3 10 47899T> C null N D 128 128 missense 0.973 probably damaging 0.07 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781901776 10p15.3 10 47896T> A null T S 129 129 missense 0.973 probably damaging 0.16 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782761500 10p15.3 10 47891G> C null F L 130 130 missense 0.95 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1359734077 10p15.3 10 47888G> T null S R 131 131 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs142619172 10p15.3 10 47887T> C null I V 132 132 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781935118 10p15.3 10 47880G> A null P L 134 134 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782051451 10p15.3 10 47881G> T null P T 134 134 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs781993665 10p15.3 10 47877G> A null S L 135 135 missense 0.968 probably damaging 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782227761 10p15.3 10 47875G> A null P S 136 136 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1213425740 10p15.3 10 47870C> G null K N 137 137 missense 0.168 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1213425740 10p15.3 10 47870C> A null K N 137 137 missense 0.168 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738433 10p15.3 10 47871T> C null K R 137 137 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782315957 10p15.3 10 47868A> G null V A 138 138 missense 0.959 probably damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs781915311 10p15.3 10 47869C> A null V L 138 138 missense 0.935 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs781915311 10p15.3 10 47869C> G null V L 138 138 missense 0.935 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025609 NCI-TCGA Cosmic [UniProt]: loss of function in oocyte maturation; loss of function in meiotic spindle assembly; decreased alpha/beta-tubulin heterodimer assembly, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Oocyte maturation defect 2 pubmed:26789871,pubmed:27273344 pubmed:26789871,pubmed:27273344 10p15.3 10 47865G> A null S L 139 139 missense 0.968 probably damaging 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) MIM:616780 ClinVar:RCV000208753 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025609 NCI-TCGA Cosmic [UniProt]: loss of function in oocyte maturation; loss of function in meiotic spindle assembly; decreased alpha/beta-tubulin heterodimer assembly, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Oocyte maturation defect 2 pubmed:26789871,pubmed:27273344 pubmed:26789871,pubmed:27273344 10p15.3 10 47865G> A null S L 139 139 missense 0.968 probably damaging 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain ExAC,NCI-TCGA,TOPMed,gnomAD rs782262099 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47857C> T null V M 142 142 missense 0.038 benign 0.05 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781794697 10p15.3 10 47844T> C null Y C 146 146 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782588770 10p15.3 10 47842T> A null N Y 147 147 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed rs782684165 10p15.3 10 47839_47840insCTC A null A * 148 148 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,NCI-TCGA,TOPMed rs781910790 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47839C> T null A T 148 148 missense 0.989 probably damaging 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782272071 10p15.3 10 47838G> A null A V 148 148 missense 0.983 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738412 10p15.3 10 47835G> T null T N 149 149 missense 0.679 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs141675066 10p15.3 10 47833G> A null L F 150 150 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1309221363 10p15.3 10 47832A> G null L P 150 150 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs141675066 10p15.3 10 47833G> C null L V 150 150 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl rs1554738402 10p15.3 10 47823T> C null H R 153 153 missense 0.135 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782695208 10p15.3 10 47821G> A null Q * 154 154 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738392 10p15.3 10 47813T> C null I M 156 156 missense 0.98 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782015321 10p15.3 10 47815T> C null I V 156 156 missense 0.768 possibly damaging 1.0 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1311903958 10p15.3 10 47810T> A null E D 157 157 missense 0.228 benign 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738381 10p15.3 10 47806C> T null A T 159 159 missense 0.989 probably damaging 1.0 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738379 10p15.3 10 47805G> A null A V 159 159 missense 0.983 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781999240 10p15.3 10 47800C> T null E K 161 161 missense 0.973 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782336348 10p15.3 10 47796G> A null T I 162 162 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,dbSNP,gnomAD rs148025238 10p15.3 10 47792A> C null F L 163 163 missense 0.95 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1236994778 10p15.3 10 47794A> G null F L 163 163 missense 0.95 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782282554 10p15.3 10 47791A> G null C R 164 164 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782681697 10p15.3 10 47790C> G null C S 164 164 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369736529 10p15.3 10 47780G> C null N K 167 167 2.0E-4 missense 0.99 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738360 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47779C> T null E K 168 168 missense 0.14 benign 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,NCI-TCGA,TOPMed,dbSNP rs781853492 [UniProt]: decreased alpha/beta-tubulin heterodimer assembly; loss of function in meiotic spindle assembly, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:27273344 10p15.3 10 47764T> C null I V 173 173 missense 0.001 benign 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1292282715 10p15.3 10 47760C> A null C F 174 174 missense 0.99 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782770138 10p15.3 10 47761A> G null C R 174 174 missense 0.99 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1292282715 10p15.3 10 47760C> T null C Y 174 174 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1367411775 10p15.3 10 47757G> A null S F 175 175 missense 0.99 probably damaging 1.0 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs144539776 10p15.3 10 47754T> C null K R 176 176 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782312790 10p15.3 10 47751G> A null T I 177 177 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782312790 10p15.3 10 47751G> C null T S 177 177 missense 0.973 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782071404 10p15.3 10 47749G> C null L V 178 178 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738346 10p15.3 10 47739G> C null P R 181 181 missense 0.44 benign 0.05 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738341 10p15.3 10 47733G> T null P H 183 183 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738338 10p15.3 10 47730G> A null T I 184 184 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782421306 10p15.3 10 47727T> C null Y C 185 185 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738331 10p15.3 10 47721T> C null D G 187 187 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738330 10p15.3 10 47718A> C null L R 188 188 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025271 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 pubmed:26789871 10p15.3 10 47706A> G null V A 192 192 missense 0.857 possibly damaging 0.0 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) MIM:616780 ClinVar:RCV000207100 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025271 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 pubmed:26789871 10p15.3 10 47706A> G null V A 192 192 missense 0.857 possibly damaging 0.0 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1264998846 10p15.3 10 47707C> T null V M 192 192 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738324 10p15.3 10 47703G> C null S C 193 193 missense 0.971 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782666887 10p15.3 10 47700G> A null A V 194 194 missense 0.001 benign 0.11 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738316 10p15.3 10 47698T> C null T A 195 195 missense 0.899 possibly damaging 0.1 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1476971660 10p15.3 10 47697G> A null T I 195 195 missense 0.969 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738305 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47694A> G null M T 196 196 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs200242637 10p15.3 10 47695T> C null M V 196 196 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1407138560 10p15.3 10 47689C> T null G R 198 198 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1163349486 10p15.3 10 47686C> T null V I 199 199 missense 0.785 possibly damaging 0.26 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs1057520306 [UniProt]: decreased alpha/beta-tubulin heterodimer assembly; loss of function in meiotic spindle assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:27273344 pubmed:27273344 10p15.3 10 47679G> A null T M 201 201 missense 0.006 benign 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) MIM:616780 ClinVar:RCV000439790 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs1057520306 [UniProt]: decreased alpha/beta-tubulin heterodimer assembly; loss of function in meiotic spindle assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:27273344 pubmed:27273344 10p15.3 10 47679G> A null T M 201 201 missense 0.006 benign 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1432064011 10p15.3 10 47676C> T null C Y 202 202 missense 0.018 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1338833918 10p15.3 10 47671G> A null R C 204 204 missense 0.336 benign 0.06 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1338833918 10p15.3 10 47671G> C null R G 204 204 missense 0.043 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782631950 10p15.3 10 47670C> T null R H 204 204 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782631950 10p15.3 10 47670C> A null R L 204 204 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782631950 10p15.3 10 47670C> G null R P 204 204 missense 0.228 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1338833918 10p15.3 10 47671G> T null R S 204 204 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738256 10p15.3 10 47661C> T null G D 207 207 missense 0.992 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs781819069 10p15.3 10 47659G> A null Q * 208 208 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs781819069 10p15.3 10 47659G> T null Q K 208 208 missense 0.678 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC rs782435053 10p15.3 10 47646T> G null D A 212 212 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs781807177 10p15.3 10 47645G> T null D E 212 212 missense 0.935 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782167952 10p15.3 10 47641G> A null R W 214 214 missense 0.454 possibly damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781990199 10p15.3 10 47637T> A null K M 215 215 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782788203 10p15.3 10 47636C> A null K N 215 215 missense 0.95 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781990199 10p15.3 10 47637T> C null K R 215 215 missense 0.899 possibly damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs782269374 [ClinVar]: Oocyte maturation defect, [UniProt]: loss of function in meiotic spindle assembly, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:27273344 10p15.3 10 47629C> T null V M 218 218 missense 0.005 benign 0.01 deleterious - low confidence 0 Oocyte maturation defect MIM:PS615774 ClinVar:RCV000856582 A0A075B736 TUBB8 Tubulin beta chain ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs782269374 [ClinVar]: Oocyte maturation defect, [UniProt]: loss of function in meiotic spindle assembly, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:27273344 10p15.3 10 47629C> T null V M 218 218 missense 0.005 benign 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1160904954 10p15.3 10 47619A> G null V A 221 221 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782263731 10p15.3 10 47616G> A null P L 222 222 missense 0.982 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782263731 10p15.3 10 47616G> C null P R 222 222 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,dbSNP rs869025610 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 10p15.3 10 47607C> T null R Q 225 225 missense 0.003 benign 0.03 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) MIM:616780 ClinVar:RCV000208767 A0A075B736 TUBB8 Tubulin beta chain TOPMed,dbSNP rs869025610 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 10p15.3 10 47607C> T null R Q 225 225 missense 0.003 benign 0.03 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,dbSNP,gnomAD rs782486119 [UniProt]: decreased alpha/beta-tubulin heterodimer assembly; does not affect function in meiotic spindle assembly pubmed:27273344 10p15.3 10 47608G> A null R W 225 225 missense 0.001 benign 0.02 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738218 10p15.3 10 47602G> A null H Y 227 227 missense 0.932 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs781833693 10p15.3 10 47586C> T null G D 232 232 missense 0.618 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1351294418 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47587C> T null G S 232 232 missense 0.061 benign 0.05 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs781833693 10p15.3 10 47586C> A null G V 232 232 missense 0.775 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs147114528 10p15.3 10 47565C> T null R Q 239 239 missense 0.009 benign 0.11 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782798821 10p15.3 10 47566G> A null R W 239 239 missense 0.767 possibly damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs201177578 10p15.3 10 47562C> G null G A 240 240 missense 0.315 benign 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781998463 10p15.3 10 47563C> G null G R 240 240 missense 0.906 possibly damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738191 10p15.3 10 47555C> A null Q H 242 242 missense 0.986 probably damaging 0.06 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,TOPMed,gnomAD rs545672284 10p15.3 10 47556T> C null Q R 242 242 2.0E-4 missense 0.932 probably damaging 0.05 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781917572 10p15.3 10 47554G> C null Q E 243 243 missense 0.079 benign 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs200311430 NCI-TCGA Cosmic [ClinVar]: CIC-DUX Sarcoma, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 10p15.3 10 47549G> C null Y * 244 244 stop gained 1 CIC-DUX Sarcoma ClinVar:RCV000993830 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738187 10p15.3 10 47550T> A null Y F 244 244 missense 0.973 probably damaging 0.15 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs576662836 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47547C> T null R Q 245 245 2.0E-4 missense 0.393 benign 0.07 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed,gnomAD rs371080326 10p15.3 10 47548G> A null R W 245 245 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738180 10p15.3 10 47545C> A null A S 246 246 missense 0.983 probably damaging 0.18 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738179 10p15.3 10 47544G> A null A V 246 246 missense 0.983 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782610008 10p15.3 10 47540C> G null L F 247 247 missense 0.992 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782663295 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47523G> A null T I 253 253 missense 0.992 probably damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782663295 10p15.3 10 47523G> C null T S 253 253 missense 0.973 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781845026 10p15.3 10 47519C> A null Q H 254 254 missense 0.505 possibly damaging 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782787408 10p15.3 10 47501C> A null K N 260 260 missense 0.218 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738162 10p15.3 10 47502T> C null K R 260 260 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738156 10p15.3 10 47500T> A null N Y 261 261 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782078099 10p15.3 10 47496A> G null M T 262 262 missense 0.855 possibly damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738143 10p15.3 10 47497T> C null M V 262 262 missense 0.59 possibly damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025612 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 10p15.3 10 47492C> T null M I 263 263 missense 0.0 benign 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) MIM:616780 ClinVar:RCV000208765 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025612 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 10p15.3 10 47492C> T null M I 263 263 missense 0.0 benign 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738137 10p15.3 10 47493A> C null M R 263 263 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs41304577 10p15.3 10 47485A> G null C R 266 266 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782066065 10p15.3 10 47483A> C null C W 266 266 missense 0.817 possibly damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738128 10p15.3 10 47484C> T null C Y 266 266 missense 0.601 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782114919 10p15.3 10 47480G> T null D E 267 267 missense 0.16 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782023635 10p15.3 10 47482C> T null D N 267 267 missense 0.009 benign 0.05 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs200558688 10p15.3 10 47476G> A null R C 269 269 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782348640 10p15.3 10 47475C> T null R H 269 269 missense 0.494 possibly damaging 0.06 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782289021 10p15.3 10 47469C> G null G A 271 271 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782289021 10p15.3 10 47469C> T null G D 271 271 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782575307 10p15.3 10 47470C> T null G S 271 271 missense 0.997 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782628556 10p15.3 10 47467G> A null R C 272 272 missense 0.993 probably damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs368079015 10p15.3 10 47460A> G null L P 274 274 missense 0.857 possibly damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs368079015 10p15.3 10 47460A> C null L R 274 274 missense 0.802 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738095 10p15.3 10 47458T> C null T A 275 275 missense 0.067 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs559882106 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47457G> A null T M 275 275 2.0E-4 missense 0.018 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs199826048 10p15.3 10 47454G> A null A V 276 276 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781859520 10p15.3 10 47452C> G null A P 277 277 missense 0.995 probably damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782075199 10p15.3 10 47439C> T null R K 281 281 missense 0.123 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,NCI-TCGA,gnomAD rs782029140 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47434G> A null R C 283 283 missense 0.568 possibly damaging 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1465781298 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47433C> T null R H 283 283 missense 0.001 benign 0.08 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1397428604 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47421C> T null R K 287 287 missense 0.92 probably damaging 1.0 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1445961741 10p15.3 10 47416C> T null V M 289 289 missense 0.761 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1324123308 10p15.3 10 47412T> C null D G 290 290 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738072 10p15.3 10 47413C> T null D N 290 290 missense 0.989 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1332675141 10p15.3 10 47407G> A null Q * 292 292 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781946424 10p15.3 10 47392G> T null Q K 297 297 missense 0.025 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738064 10p15.3 10 47388T> C null D G 298 298 missense 0.042 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1318915500 10p15.3 10 47389C> T null D N 298 298 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738064 10p15.3 10 47388T> A null D V 298 298 missense 0.153 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl rs1564203400 10p15.3 10 47379C> T null S N 301 301 missense 0.95 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC rs782593461 10p15.3 10 47376C> A null S I 302 302 missense 0.508 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs4029642 10p15.3 10 47375A> C null S R 302 302 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738058 10p15.3 10 47377T> G null S R 302 302 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738054 10p15.3 10 47372G> C null Y * 303 303 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738049 10p15.3 10 47361C> T null W * 307 307 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738048 10p15.3 10 47360C> T null W * 307 307 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs4880608 10p15.3 10 47359G> A null L F 308 308 missense 0.005 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs4881159 10p15.3 10 47353T> C null N D 310 310 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs4881159 10p15.3 10 47353T> G null N H 310 310 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,dbSNP rs1270068662 [UniProt]: loss of function in meiotic spindle assembly pubmed:27273344 10p15.3 10 47349T> C null N S 311 311 missense 0.973 probably damaging 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs572455524 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47347C> T null V I 312 312 0.006989 missense 0.939 probably damaging 0.18 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,TOPMed,gnomAD rs572455524 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47347C> A null V L 312 312 0.006989 missense 0.964 probably damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC rs782524836 10p15.3 10 47340G> A null T I 314 314 missense 0.992 probably damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782454102 10p15.3 10 47329C> G null D H 318 318 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,NCI-TCGA,gnomAD rs782110615 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47316C> T null R Q 322 322 missense 0.006 benign 0.08 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,TOPMed,gnomAD rs147880041 10p15.3 10 47317G> A null R W 322 322 0.01078 missense 0.684 possibly damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738037 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47313C> T null G E 323 323 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs868946735 10p15.3 10 47314C> T null G R 323 323 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025611 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 10p15.3 10 47304A> G null M T 326 326 missense 0.085 benign 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) MIM:616780 ClinVar:RCV000208778 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025611 [UniProt]: loss of function in oocyte maturation; decreased alpha/beta-tubulin heterodimer assembly, [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 10p15.3 10 47304A> G null M T 326 326 missense 0.085 benign 0.01 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs200765980 10p15.3 10 47298G> A null A V 328 328 missense 0.983 probably damaging 0.26 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1276522920 10p15.3 10 47289A> G null I T 331 331 missense 0.001 benign 0.05 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738032 10p15.3 10 47286C> G null G A 332 332 missense 0.995 probably damaging 0.04 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs2354222 10p15.3 10 47278T> C null T A 335 335 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ESP,ExAC,TOPMed rs373690105 10p15.3 10 47277G> A null T M 335 335 missense 0.011 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1267257742 10p15.3 10 47270G> C null I M 337 337 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782272197 10p15.3 10 47268T> C null Q R 338 338 missense 0.067 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1354887369 10p15.3 10 47258G> T null F L 341 341 missense 0.95 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1354887369 10p15.3 10 47258G> C null F L 341 341 missense 0.95 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1209708518 10p15.3 10 47254G> A null R C 343 343 missense 0.001 benign 0.05 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738022 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47253C> T null R H 343 343 missense 0.001 benign 0.05 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738020 10p15.3 10 47248A> C null S A 345 345 missense 0.886 possibly damaging 0.11 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1489473794 10p15.3 10 47239A> G null F L 348 348 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782268977 10p15.3 10 47235G> A null T I 349 349 missense 0.969 probably damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554738010 10p15.3 10 47233C> A null A S 350 350 missense 0.023 benign 0.06 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1477234900 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47221G> A null R C 354 354 missense 0.353 benign 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782604486 10p15.3 10 47217T> C null K R 355 355 missense 0.899 possibly damaging 0.08 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1369645270 10p15.3 10 47197T> C null T A 362 362 missense 0.037 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1456332226 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47196G> A null T M 362 362 missense 0.535 possibly damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554737993 10p15.3 10 47189C> A null E D 364 364 missense 0.037 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1421260552 10p15.3 10 47187C> T null G D 365 365 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1360990428 10p15.3 10 47188C> T null G S 365 365 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782697676 10p15.3 10 47183C> T null M I 366 366 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554737988 10p15.3 10 47181T> G null D A 367 367 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554737987 10p15.3 10 47177C> G null E D 368 368 missense 0.899 possibly damaging 0.01 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC rs782065112 10p15.3 10 47166G> C null T S 372 372 missense 0.899 possibly damaging 0.08 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782113520 10p15.3 10 47158C> T null E K 375 375 missense 0.905 possibly damaging 0.03 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554737983 10p15.3 10 47149T> C null M V 378 378 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025272 [UniProt]: loss of function in oocyte maturation; loss of function in meiotic spindle assembly; decreased alpha/beta-tubulin heterodimer assembly, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 pubmed:26789871 10p15.3 10 47143C> T null D N 380 380 missense 0.959 probably damaging 0.02 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) MIM:616780 ClinVar:RCV000207225 A0A075B736 TUBB8 Tubulin beta chain Ensembl,dbSNP rs869025272 [UniProt]: loss of function in oocyte maturation; loss of function in meiotic spindle assembly; decreased alpha/beta-tubulin heterodimer assembly, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Oocyte maturation defect 2 pubmed:26789871 pubmed:26789871 10p15.3 10 47143C> T null D N 380 380 missense 0.959 probably damaging 0.02 deleterious - low confidence 0 Oocyte maturation defect 2 (OOMD2) An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. MIM:616780 pubmed:26789871,pubmed:27273344 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1310613681 10p15.3 10 47136A> T null V E 382 382 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554737980 10p15.3 10 47127T> C null Y C 385 385 missense 0.759 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1356357815 10p15.3 10 47122G> A null Q * 387 387 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1214870454 10p15.3 10 47115T> C null Q R 389 389 missense 0.069 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781927898 10p15.3 10 47111A> T null D E 390 390 missense 0.417 benign 0.49 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1285710166 10p15.3 10 47112T> A null D V 390 390 missense 0.804 possibly damaging 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554737972 10p15.3 10 47109G> A null A V 391 391 missense 0.483 possibly damaging 0.08 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376101781 10p15.3 10 47106G> T null T K 392 392 2.0E-4 missense 0.557 possibly damaging 0.09 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376101781 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47106G> A null T M 392 392 2.0E-4 missense 0.791 possibly damaging 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782388566 10p15.3 10 47103G> A null A V 393 393 missense 0.483 possibly damaging 0.39 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,TOPMed,gnomAD rs540119672 10p15.3 10 47101C> T null E K 394 394 2.0E-4 missense 0.001 benign 0.18 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554737967 10p15.3 10 47098C> T null E K 395 395 missense 0.292 benign 0.02 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1380806874 10p15.3 10 47095C> T null E K 396 396 missense 0.292 benign 0.13 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain 1000Genomes,ExAC,TOPMed rs571068623 10p15.3 10 47087A> C null D E 398 398 2.0E-4 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs781804090 10p15.3 10 47089C> T null D N 398 398 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,TOPMed,gnomAD rs782551071 10p15.3 10 47086C> T null E K 399 399 missense 0.003 benign 0.22 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs781856585 10p15.3 10 47083C> A null E * 400 400 stop gained 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1332681503 10p15.3 10 47080A> G null Y H 401 401 missense 0.013 benign 0.43 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554737951 10p15.3 10 47076G> T null A D 402 402 missense 0.001 benign 0.67 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782770339 10p15.3 10 47077C> T null A T 402 402 missense 0.001 benign 0.58 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1238551886 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10p15.3 10 47074C> T null E K 403 403 missense 0.305 benign 0.05 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed,gnomAD rs1238551886 10p15.3 10 47074C> G null E Q 403 403 missense 0.557 possibly damaging 0.16 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain gnomAD rs1554737946 10p15.3 10 47067T> A null E V 405 405 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain TOPMed rs1202517288 10p15.3 10 47064A> G null V A 406 406 missense 0.0 benign 0.6 tolerated - low confidence 0 A0A075B736 TUBB8 Tubulin beta chain ExAC,gnomAD rs782072300 10p15.3 10 47062C> T null A T 407 407 missense 0.483 possibly damaging 0.01 deleterious - low confidence 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs999823352 17q23.3 17 64390658G> A null P L 3 3 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs999823352 17q23.3 17 64390658G> C null P R 3 3 missense 0.041 benign 0.03 deleterious - low confidence 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1180644021 17q23.3 17 64390652C> A null W L 5 5 missense 0.98 probably damaging 0.04 deleterious - low confidence 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1378398124 17q23.3 17 64390650C> T null A T 6 6 missense 0.003 benign 1.0 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1438933960 17q23.3 17 64390643C> T null G E 8 8 missense 0.003 benign 0.74 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1041722227 17q23.3 17 64390637G> A null T M 10 10 missense 0.001 benign 0.08 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1379102565 17q23.3 17 64390635T> A null M L 11 11 missense 0.569 possibly damaging 0.04 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) Ensembl rs1008931747 17q23.3 17 64390630C> A null W C 12 12 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1464381306 17q23.3 17 64390632A> T null W R 12 12 missense 0.994 probably damaging 0.32 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1171603279 17q23.3 17 64390628A> G null L P 13 13 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1448332566 17q23.3 17 64390616A> G null L P 17 17 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1375527521 17q23.3 17 64390613G> A null T I 18 18 missense 0.0 benign 1.0 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1375527521 17q23.3 17 64390613G> T null T N 18 18 missense 0.098 benign 0.03 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1302617631 17q23.3 17 64390611G> A null L F 19 19 missense 0.991 probably damaging 0.27 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1314269351 17q23.3 17 64390607A> G null L P 20 20 missense 0.703 possibly damaging 0.0 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs890538220 17q23.3 17 64390605G> A null L F 21 21 missense 0.573 possibly damaging 0.33 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1198492322 17q23.3 17 64390508G> T null S R 24 24 missense 0.116 benign 0.06 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1466803785 17q23.3 17 64390502C> G null E D 26 26 missense 0.28 benign 0.32 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1046291707 17q23.3 17 64378094T> C null M V 39 39 missense 0.619 possibly damaging 0.01 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1369473031 17q23.3 17 64378072G> A null T M 46 46 missense 0.937 probably damaging 0.04 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1163112331 17q23.3 17 64378063T> C null N S 49 49 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1457859854 17q23.3 17 64378054T> C null N S 52 52 missense 0.323 benign 0.23 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1381646622 17q23.3 17 64378037A> G null F L 58 58 missense 0.0 benign 0.95 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1342097112 17q23.3 17 64378034C> T null A T 59 59 missense 0.637 possibly damaging 0.02 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1412650226 17q23.3 17 64378033G> A null A V 59 59 missense 0.028 benign 1.0 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1349322529 17q23.3 17 64378010C> T null V I 67 67 missense 0.04 benign 0.29 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1205098838 17q23.3 17 64377995G> A null Q * 72 72 stop gained 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1257453903 17q23.3 17 64377990C> T null M I 73 73 missense 0.014 benign 0.29 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1186204443 17q23.3 17 64377982T> C null Y C 76 76 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1486870540 17q23.3 17 64377983A> C null Y D 76 76 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1257078966 17q23.3 17 64377971C> T null V M 80 80 missense 0.356 benign 0.14 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1473007292 17q23.3 17 64377967A> G null L P 81 81 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs925993821 17q23.3 17 64377953A> C null S A 86 86 missense 0.664 possibly damaging 0.1 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1362179460 17q23.3 17 64377952G> C null S C 86 86 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1173116225 17q23.3 17 64377910C> T null R Q 100 100 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1404215757 17q23.3 17 64377899A> T null S T 104 104 missense 0.071 benign 0.54 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1411347268 17q23.3 17 64377868T> G null N T 114 114 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) 1000Genomes,TOPMed,dbSNP rs281865545 [ClinVar]: Three Vessel Coronary Disease, [ClinVar]: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM pubmed:11791967,pubmed:1690453,pubmed:17212705,pubmed:8532023 pubmed:8532023 17q23.3 17 64377836C> G null V L 125 125 missense 0.019 benign 0.22 tolerated 1 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM ClinVar:RCV000014538 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) 1000Genomes,TOPMed,dbSNP rs281865545 [ClinVar]: Three Vessel Coronary Disease, [ClinVar]: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM pubmed:11791967,pubmed:1690453,pubmed:17212705,pubmed:8532023 pubmed:8532023 17q23.3 17 64377836C> G null V L 125 125 missense 0.019 benign 0.22 tolerated 1 Three Vessel Coronary Disease ClinVar:RCV001003440 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) 1000Genomes,TOPMed rs281865545 17q23.3 17 64377836C> T null V M 125 125 missense 0.754 possibly damaging 0.0 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) Ensembl rs987636216 17q23.3 17 64377829A> G null V A 127 127 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1211761475 17q23.3 17 64375353A> G null V A 130 130 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1482618030 17q23.3 17 64375347C> G null S T 132 132 missense 0.112 benign 0.32 tolerated 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1239254244 17q23.3 17 64375344G> A null P L 133 133 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B737 PECAM1 Platelet endothelial cell adhesion molecule (Fragment) TOPMed rs1181824485 17q23.3 17 64375345G> A null P S 133 133 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1469187170 9q34.3 9 136303826G> A null P L 2 2 missense 0.738 possibly damaging 0.05 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1371011767 9q34.3 9 136303814A> G null V A 6 6 missense 0.0 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1172598475 9q34.3 9 136303815C> T null V M 6 6 missense 0.003 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1431388407 9q34.3 9 136303811C> T null G D 7 7 missense 0.017 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1306110118 9q34.3 9 136303808G> A null T M 8 8 missense 0.02 benign 0.87 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs947462126 9q34.3 9 136303805G> A null P L 9 9 missense 0.0 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1233927788 9q34.3 9 136303796C> A null C F 12 12 missense 0.035 benign 0.69 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1344771128 9q34.3 9 136303778T> C null Q R 18 18 missense 0.98 probably damaging 0.08 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1203375088 9q34.3 9 136303763T> C null N S 23 23 missense 0.055 benign 0.19 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1452643188 9q34.3 9 136303756C> G null Q H 25 25 missense 0.476 possibly damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1272963740 9q34.3 9 136303757T> C null Q R 25 25 missense 0.003 benign 0.37 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1224399476 9q34.3 9 136303753C> A null R S 26 26 missense 0.159 benign 0.22 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1247995285 9q34.3 9 136303746G> A null P S 29 29 missense 0.594 possibly damaging 0.16 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1192688704 9q34.3 9 136303736T> C null H R 32 32 missense 0.279 benign 0.51 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1451129935 9q34.3 9 136303713C> T null D N 40 40 missense 0.217 benign 0.53 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1165886432 9q34.3 9 136303710A> G null W R 41 41 missense 0.917 probably damaging 0.73 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs912551769 9q34.3 9 136303704C> T null A T 43 43 missense 0.369 benign 0.2 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1442398570 9q34.3 9 136303286C> T null A T 51 51 missense 0.297 benign 0.53 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1323490593 9q34.3 9 136303279G> T null A E 53 53 missense 0.932 probably damaging 0.16 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1051108237 9q34.3 9 136303265C> G null V L 58 58 missense 0.007 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1051108237 9q34.3 9 136303265C> A null V L 58 58 missense 0.007 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1226669850 9q34.3 9 136303255A> T null L Q 61 61 missense 0.694 possibly damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1211851428 9q34.3 9 136303243C> T null G E 65 65 missense 0.59 possibly damaging 0.5 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1358566144 9q34.3 9 136303244C> T null G R 65 65 missense 0.018 benign 0.93 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs897128243 9q34.3 9 136303232G> T null Q K 69 69 missense 0.97 probably damaging 0.09 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1038629830 9q34.3 9 136303225T> C null D G 71 71 missense 0.006 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1428278521 9q34.3 9 136303205G> T null H N 78 78 missense 0.61 possibly damaging 0.1 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1370641848 9q34.3 9 136303202C> T null V M 79 79 missense 0.035 benign 0.25 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs878999313 9q34.3 9 136303199C> T null V I 80 80 missense 0.217 benign 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1393053710 9q34.3 9 136303196C> T null G R 81 81 missense 0.003 benign 0.12 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1435446253 9q34.3 9 136303195C> A null G V 81 81 missense 0.281 benign 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1290248654 9q34.3 9 136303192G> C null S C 82 82 missense 0.937 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs990944515 9q34.3 9 136303188G> T null D E 83 83 missense 0.007 benign 0.19 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1336792231 9q34.3 9 136303187C> G null D H 84 84 missense 0.01 benign 0.54 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1336792231 9q34.3 9 136303187C> T null D N 84 84 missense 0.32 benign 0.34 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1259126104 9q34.3 9 136303162C> T null G E 92 92 missense 1.0 probably damaging 0.13 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs981095281 9q34.3 9 136303151T> G null S R 96 96 missense 0.023 benign 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1258907969 9q34.3 9 136303145G> A null P S 98 98 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1474543155 9q34.3 9 136303135G> A null S F 101 101 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs967086427 9q34.3 9 136303126G> A null P L 104 104 missense 0.392 benign 0.24 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1416598832 9q34.3 9 136303127G> A null P S 104 104 missense 0.236 benign 0.2 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1020339634 9q34.3 9 136303112C> G null G R 109 109 missense 1.0 probably damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1357093835 9q34.3 9 136303102G> A null S L 112 112 missense 0.996 probably damaging 0.08 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1292584153 9q34.3 9 136303093G> A null S L 115 115 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs957515770 9q34.3 9 136303088G> A null R C 117 117 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1018156544 9q34.3 9 136303087C> T null R H 117 117 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1211063237 9q34.3 9 136303085G> A null L F 118 118 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1211063237 9q34.3 9 136303085G> C null L V 118 118 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1282993095 9q34.3 9 136303081G> A null S L 119 119 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1253077453 9q34.3 9 136303067C> A null G C 124 124 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1472650174 9q34.3 9 136303066C> T null G D 124 124 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1253077453 9q34.3 9 136303067C> T null G S 124 124 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1176329734 9q34.3 9 136303061C> T null D N 126 126 missense 0.0 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1377106105 9q34.3 9 136303060T> A null D V 126 126 missense 0.001 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1432571717 9q34.3 9 136303058C> T null V M 127 127 missense 0.449 possibly damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1312205623 9q34.3 9 136303051A> G null V A 129 129 missense 0.429 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1371048104 9q34.3 9 136303046A> G null W R 131 131 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1372666081 9q34.3 9 136302991T> C null D G 149 149 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs1029771008 9q34.3 9 136302992C> T null D N 149 149 missense 0.998 probably damaging 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs897161709 9q34.3 9 136302989C> T null A T 150 150 missense 0.011 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1038737994 9q34.3 9 136302988G> A null A V 150 150 missense 0.006 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1055247595 9q34.3 9 136302985C> T null R Q 151 151 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs895393234 9q34.3 9 136302986G> A null R W 151 151 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1230743410 9q34.3 9 136302980C> T null E K 153 153 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs939502421 9q34.3 9 136302977G> A null Q * 154 154 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1396442209 9q34.3 9 136302959G> A null R W 160 160 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs1564329995 9q34.3 9 136302956C> T null A T 161 161 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1452380004 9q34.3 9 136302955G> A null A V 161 161 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1390541328 9q34.3 9 136302950C> T null A T 163 163 missense 0.55 possibly damaging 0.05 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs981225741 9q34.3 9 136302949G> A null A V 163 163 missense 0.042 benign 0.09 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1437197562 9q34.3 9 136302940T> C null Q R 166 166 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1328206724 9q34.3 9 136302935T> G null S R 168 168 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs912938745 9q34.3 9 136302933G> C null S R 168 168 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1440414607 9q34.3 9 136302931C> T null C Y 169 169 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs957340349 9q34.3 9 136302926A> G null S P 171 171 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1272852643 9q34.3 9 136302919C> T null G D 173 173 missense 0.142 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1213731163 9q34.3 9 136302910G> C null A G 176 176 missense 0.236 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1306420424 9q34.3 9 136302911C> T null A T 176 176 missense 0.392 benign 0.59 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs985352497 9q34.3 9 136302907G> A null P L 177 177 missense 0.926 probably damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs955205722 9q34.3 9 136302899C> T null A T 180 180 missense 0.007 benign 0.24 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1029468213 9q34.3 9 136302892C> G null R T 182 182 missense 0.087 benign 0.47 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1166088559 9q34.3 9 136302890G> A null L F 183 183 missense 0.015 benign 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1462049191 9q34.3 9 136302883T> G null K T 185 185 missense 0.03 benign 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1167248297 9q34.3 9 136302875T> C null T A 188 188 missense 0.0 benign 0.67 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs994265690 9q34.3 9 136302874G> A null T M 188 188 missense 0.107 benign 0.08 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1016970164 9q34.3 9 136302867C> T null M I 190 190 missense 0.0 benign 0.16 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs961756758 9q34.3 9 136302868A> G null M T 190 190 missense 0.0 benign 0.27 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1428981722 9q34.3 9 136302862C> G null R T 192 192 missense 0.236 benign 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1270162605 9q34.3 9 136302855T> G null K N 194 194 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1005951910 9q34.3 9 136302853C> G null G A 195 195 missense 0.0 benign 0.69 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1274552700 9q34.3 9 136302835G> A null P L 201 201 missense 0.033 benign 0.13 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs895424356 9q34.3 9 136302829G> A null P L 203 203 missense 0.926 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1055320626 9q34.3 9 136302818A> G null C R 207 207 missense 0.003 benign 0.35 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1240395870 9q34.3 9 136300304T> C null S G 214 214 missense 0.083 benign 0.24 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1436645522 9q34.3 9 136300303C> T null S N 214 214 missense 0.161 benign 0.33 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1031838281 9q34.3 9 136300295C> T null E K 217 217 missense 0.802 possibly damaging 0.16 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs999718449 9q34.3 9 136300292G> A null R C 218 218 missense 0.007 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs902252612 9q34.3 9 136300291C> T null R H 218 218 missense 0.007 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1426831154 9q34.3 9 136300270G> C null S C 225 225 missense 0.806 possibly damaging 0.09 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1328046054 9q34.3 9 136300264C> T null G D 227 227 missense 0.371 benign 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1389623644 9q34.3 9 136300265C> T null G S 227 227 missense 0.02 benign 0.23 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs946384246 9q34.3 9 136300256G> A null R C 230 230 missense 0.644 possibly damaging 0.26 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1281425638 9q34.3 9 136300255C> T null R H 230 230 missense 0.0 benign 0.63 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1260401349 9q34.3 9 136300252T> G null E A 231 231 missense 0.003 benign 0.1 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1219469019 9q34.3 9 136300253C> T null E K 231 231 missense 0.007 benign 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1337789938 9q34.3 9 136300250G> C null L V 232 232 missense 0.223 benign 0.3 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1195754615 9q34.3 9 136300246G> A null S F 233 233 missense 0.811 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1039371816 9q34.3 9 136300243C> G null R T 234 234 missense 0.458 possibly damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1201031916 9q34.3 9 136300241C> T null V I 235 235 missense 0.038 benign 0.44 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs944599477 9q34.3 9 136300231T> C null H R 238 238 missense 0.129 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1479910942 9q34.3 9 136300226C> T null V I 240 240 missense 0.217 benign 0.13 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1479910942 9q34.3 9 136300226C> G null V L 240 240 missense 0.125 benign 0.08 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1366692671 9q34.3 9 136297807G> T null P T 247 247 missense 0.005 benign 0.75 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs888327449 9q34.3 9 136297804T> G null K Q 248 248 missense 0.31 benign 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1225505937 9q34.3 9 136297799C> G null R S 249 249 missense 0.071 benign 0.12 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1250462739 9q34.3 9 136297797A> C null V G 250 250 missense 0.038 benign 0.26 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1356606065 9q34.3 9 136297794T> C null K R 251 251 missense 0.006 benign 0.33 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1211418541 9q34.3 9 136297786A> C null S A 254 254 missense 0.979 probably damaging 0.13 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1287396625 9q34.3 9 136297785G> T null S Y 254 254 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs1027226347 9q34.3 9 136297774C> G null E Q 258 258 missense 0.121 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1467996226 9q34.3 9 136297771T> C null K E 259 259 missense 0.782 possibly damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1209229348 9q34.3 9 136297769C> A null K N 259 259 missense 0.125 benign 0.05 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1447784062 9q34.3 9 136297767G> A null T I 260 260 missense 0.371 benign 0.15 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1447784062 9q34.3 9 136297767G> T null T N 260 260 missense 0.297 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1192541011 9q34.3 9 136297765G> A null P S 261 261 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs1564327181 9q34.3 9 136297755G> C null P R 264 264 missense 0.882 possibly damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1046455257 9q34.3 9 136297740G> T null A E 269 269 missense 0.382 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1046455257 9q34.3 9 136297740G> A null A V 269 269 missense 0.006 benign 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1380087002 9q34.3 9 136297718G> T null D E 276 276 missense 0.831 possibly damaging 0.36 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1013606480 9q34.3 9 136297715T> A null E D 277 277 missense 0.426 benign 0.25 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1294153539 9q34.3 9 136297717C> T null E K 277 277 missense 0.013 benign 0.67 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1404558494 9q34.3 9 136292292G> T null S * 279 279 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1404558494 9q34.3 9 136292292G> C null S W 279 279 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1336883843 9q34.3 9 136292288C> A null E D 280 280 missense 0.991 probably damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1312372535 9q34.3 9 136292290C> G null E Q 280 280 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs1025367980 9q34.3 9 136292281C> G null G R 283 283 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1350822001 9q34.3 9 136292272C> T null A T 286 286 missense 0.366 benign 0.1 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1023597999 9q34.3 9 136292241G> A null S L 296 296 missense 0.001 benign 0.4 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs896348576 9q34.3 9 136292233C> G null G R 299 299 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1174297336 9q34.3 9 136292224G> A null P S 302 302 missense 0.946 probably damaging 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs902619954 9q34.3 9 136292221C> T null V I 303 303 missense 0.005 benign 0.15 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1043750546 9q34.3 9 136292215G> A null R C 305 305 missense 0.003 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs946756972 9q34.3 9 136292214C> T null R H 305 305 missense 0.665 possibly damaging 0.05 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1376745533 9q34.3 9 136292199T> C null K R 310 310 missense 0.316 benign 0.23 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1238827758 9q34.3 9 136292190G> A null S L 313 313 missense 0.184 benign 0.55 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs912121804 9q34.3 9 136292182G> C null P A 316 316 missense 0.898 possibly damaging 0.52 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1313652176 9q34.3 9 136292181G> A null P L 316 316 missense 0.184 benign 0.67 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1255237755 9q34.3 9 136292178G> C null A G 317 317 missense 0.996 probably damaging 0.14 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1236319686 9q34.3 9 136292170C> T null V M 320 320 missense 0.82 possibly damaging 0.26 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs950825315 9q34.3 9 136292162T> G null L F 322 322 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs927638976 9q34.3 9 136291637C> T null E K 326 326 missense 0.003 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1402391972 9q34.3 9 136291631C> G null V L 328 328 missense 0.239 benign 0.25 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1444463503 9q34.3 9 136291622C> T null A T 331 331 missense 0.023 benign 0.31 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs966615008 9q34.3 9 136291615C> T null C Y 333 333 missense 0.102 benign 0.63 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1438935684 9q34.3 9 136291612G> C null S * 334 334 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1022137616 9q34.3 9 136291609G> A null P L 335 335 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1022137616 9q34.3 9 136291609G> T null P Q 335 335 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1022137616 9q34.3 9 136291609G> C null P R 335 335 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1451703070 9q34.3 9 136291588T> C null D G 342 342 missense 0.0 benign 0.52 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1271723917 9q34.3 9 136291589C> T null D N 342 342 missense 0.0 benign 0.36 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1018147354 9q34.3 9 136291582G> A null T I 344 344 missense 0.02 benign 0.05 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1008977968 9q34.3 9 136291579G> A null S F 345 345 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1425500785 9q34.3 9 136291577C> T null A T 346 346 missense 0.107 benign 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs36134869 9q34.3 9 136291574A> C null Y D 347 347 missense 0.0 benign 0.21 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs993473442 9q34.3 9 136291573T> A null Y F 347 347 missense 0.001 benign 0.7 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs36134869 9q34.3 9 136291574A> G null Y H 347 347 missense 0.0 benign 0.8 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs993473442 9q34.3 9 136291573T> G null Y S 347 347 missense 0.0 benign 0.42 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1407183505 9q34.3 9 136291571T> C null S G 348 348 missense 0.01 benign 0.25 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs899429449 9q34.3 9 136291565G> C null Q E 350 350 missense 0.169 benign 0.27 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1345127306 9q34.3 9 136291561T> C null Q R 351 351 missense 0.006 benign 0.16 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1400820351 9q34.3 9 136291559C> A null V L 352 352 missense 0.114 benign 0.17 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1280561230 9q34.3 9 136291553C> T null G R 354 354 missense 0.521 possibly damaging 0.35 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs948869813 9q34.3 9 136291532A> G null S P 361 361 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs894634668 9q34.3 9 136291527G> C null F L 362 362 missense 0.055 benign 0.65 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1055311162 9q34.3 9 136291526C> G null D H 363 363 missense 0.915 probably damaging 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1055311162 9q34.3 9 136291526C> T null D N 363 363 missense 0.025 benign 0.1 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs939095724 9q34.3 9 136291516G> A null A V 366 366 missense 0.04 benign 0.71 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1265126218 9q34.3 9 136291513G> T null T N 367 367 missense 0.997 probably damaging 0.15 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1476730354 9q34.3 9 136291510A> T null I K 368 368 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs977738583 9q34.3 9 136291506C> G null Q H 369 369 missense 0.01 benign 0.16 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1192149362 9q34.3 9 136291507T> C null Q R 369 369 missense 0.392 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs945007612 9q34.3 9 136291504G> A null T M 370 370 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs1564322654 9q34.3 9 136291502C> A null A S 371 371 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1300246962 9q34.3 9 136291482G> T null D E 377 377 missense 0.189 benign 0.08 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs989352958 9q34.3 9 136291481G> T null L M 378 378 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs964937549 9q34.3 9 136291478G> A null R C 379 379 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1017426277 9q34.3 9 136291477C> T null R H 379 379 missense 0.965 probably damaging 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs964937549 9q34.3 9 136291478G> T null R S 379 379 missense 0.194 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs987985804 9q34.3 9 136291474T> A null Q L 380 380 missense 0.472 possibly damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1243248011 9q34.3 9 136291462G> T null A D 384 384 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1358080472 9q34.3 9 136291456A> G null L P 386 386 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs954836278 9q34.3 9 136291441G> C null A G 391 391 missense 0.0 benign 0.99 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1287753549 9q34.3 9 136291439G> A null R C 392 392 missense 0.727 possibly damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs36170606 9q34.3 9 136291438C> T null R H 392 392 missense 0.003 benign 0.28 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1256574413 9q34.3 9 136291430C> T null G R 395 395 missense 0.7 possibly damaging 0.3 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1453310646 9q34.3 9 136291417C> T null G E 399 399 missense 0.332 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs899127092 9q34.3 9 136291418C> G null G R 399 399 missense 0.026 benign 0.71 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs899127092 9q34.3 9 136291418C> T null G R 399 399 missense 0.026 benign 0.71 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1016558909 9q34.3 9 136291407C> A null K N 402 402 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs894658198 9q34.3 9 136291405C> T null R Q 403 403 missense 0.003 benign 0.45 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1013160645 9q34.3 9 136291406G> A null R W 403 403 missense 0.528 possibly damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1310737834 9q34.3 9 136291401C> G null R S 404 404 missense 0.009 benign 0.7 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1314822142 9q34.3 9 136291397G> T null Q K 406 406 missense 0.02 benign 0.23 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1237866774 9q34.3 9 136291394C> A null D Y 407 407 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1003422572 9q34.3 9 136291391C> T null V M 408 408 missense 0.594 possibly damaging 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1201484761 9q34.3 9 136291388C> A null A S 409 409 missense 0.996 probably damaging 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs906288394 9q34.3 9 136291379C> T null G S 412 412 missense 0.661 possibly damaging 0.09 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs879046307 9q34.3 9 136291376A> G null C R 413 413 missense 0.045 benign 0.16 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs945081796 9q34.3 9 136291365G> T null D E 416 416 missense 0.217 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs914903070 9q34.3 9 136291363G> C null P R 417 417 missense 0.999 probably damaging 0.46 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1248504270 9q34.3 9 136291360T> C null N S 418 418 missense 0.0 benign 0.12 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs943284509 9q34.3 9 136291358C> A null A S 419 419 missense 0.187 benign 0.44 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs943284509 9q34.3 9 136291358C> T null A T 419 419 missense 0.71 possibly damaging 0.43 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs910439392 9q34.3 9 136291339T> C null K R 425 425 missense 0.994 probably damaging 0.1 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1464883589 9q34.3 9 136291334G> C null P A 427 427 missense 0.125 benign 0.27 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1176074072 9q34.3 9 136291333G> A null P L 427 427 missense 0.006 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1401679298 9q34.3 9 136291319C> T null E K 432 432 missense 0.994 probably damaging 0.15 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs987335344 9q34.3 9 136291316T> C null R G 433 433 missense 0.0 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1332866385 9q34.3 9 136291300A> C null L * 438 438 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1370493037 9q34.3 9 136291297T> C null E G 439 439 missense 0.633 possibly damaging 0.15 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1301566626 9q34.3 9 136291292C> A null A S 441 441 missense 0.28 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1262267048 9q34.3 9 136291268G> C null P A 449 449 missense 0.499 possibly damaging 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs954667299 9q34.3 9 136291267G> A null P L 449 449 missense 0.871 possibly damaging 0.25 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1262267048 9q34.3 9 136291268G> T null P T 449 449 missense 0.679 possibly damaging 0.69 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1200423699 9q34.3 9 136291263C> A null W C 450 450 missense 0.801 possibly damaging 0.19 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1480363196 9q34.3 9 136291258G> A null S F 452 452 missense 0.003 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1249741337 9q34.3 9 136291259A> T null S T 452 452 missense 0.006 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs919344468 9q34.3 9 136291255G> A null S F 453 453 missense 0.82 possibly damaging 0.08 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs972140832 9q34.3 9 136291252G> C null T S 454 454 missense 0.038 benign 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1016254149 9q34.3 9 136291246C> A null R L 456 456 missense 0.024 benign 0.68 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1016254149 9q34.3 9 136291246C> T null R Q 456 456 missense 0.003 benign 0.47 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs963399993 9q34.3 9 136291247G> A null R W 456 456 missense 0.0 benign 0.45 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1013308737 9q34.3 9 136291240G> C null S C 458 458 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs958998849 9q34.3 9 136291238A> C null C G 459 459 missense 0.038 benign 0.18 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1168920585 9q34.3 9 136291235G> C null P A 460 460 missense 0.232 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1036316414 9q34.3 9 136291234G> A null P L 460 460 missense 0.013 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1369360450 9q34.3 9 136291222C> T null W * 464 464 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1402719308 9q34.3 9 136291217C> T null A T 466 466 missense 0.003 benign 0.05 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1340873099 9q34.3 9 136291216G> A null A V 466 466 missense 0.003 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1220189469 9q34.3 9 136291213T> G null Q P 467 467 missense 0.0 benign 0.38 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs903357745 9q34.3 9 136291208G> A null Q * 469 469 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1042153137 9q34.3 9 136291202G> A null R C 471 471 missense 0.001 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1042153137 9q34.3 9 136291202G> C null R G 471 471 missense 0.038 benign 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1009259533 9q34.3 9 136291201C> T null R H 471 471 missense 0.001 benign 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1489939913 9q34.3 9 136291186G> A null P L 476 476 missense 0.04 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1264403124 9q34.3 9 136291168C> T null R K 482 482 missense 0.352 benign 0.59 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1479018623 9q34.3 9 136291145G> T null P T 490 490 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1419443949 9q34.3 9 136291138C> T null S N 492 492 missense 0.61 possibly damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1424893986 9q34.3 9 136291124G> T null Q K 497 497 missense 0.035 benign 0.62 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1053405445 9q34.3 9 136291120G> C null A G 498 498 missense 0.73 possibly damaging 0.15 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1366865617 9q34.3 9 136291115T> C null S G 500 500 missense 0.001 benign 0.45 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs943003441 9q34.3 9 136291111G> A null P L 501 501 missense 0.006 benign 0.09 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1286840056 9q34.3 9 136291105C> T null R K 503 503 missense 0.497 possibly damaging 0.21 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1228813838 9q34.3 9 136291093G> C null A G 507 507 missense 0.528 possibly damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1314989666 9q34.3 9 136291088T> C null R G 509 509 missense 0.003 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1052078128 9q34.3 9 136291086T> A null R S 509 509 missense 0.169 benign 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1245269573 9q34.3 9 136291081C> T null G D 511 511 missense 0.006 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1489353669 9q34.3 9 136291079G> A null P S 512 512 missense 0.121 benign 0.3 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1241890185 9q34.3 9 136291065C> A null R S 516 516 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1184092047 9q34.3 9 136291061C> T null G R 518 518 missense 0.947 probably damaging 0.2 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1442275013 9q34.3 9 136291051G> C null P R 521 521 missense 0.853 possibly damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs972165283 9q34.3 9 136291046T> C null K E 523 523 missense 0.992 probably damaging 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1316042027 9q34.3 9 136291042C> T null R Q 524 524 missense 0.0 benign 0.39 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs963474148 9q34.3 9 136291043G> A null R W 524 524 missense 0.528 possibly damaging 0.09 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs909266859 9q34.3 9 136291039C> T null S N 525 525 missense 0.003 benign 0.48 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs909266859 9q34.3 9 136291039C> G null S T 525 525 missense 0.056 benign 0.66 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1380434736 9q34.3 9 136291037G> C null P A 526 526 missense 0.025 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1452009590 9q34.3 9 136291036G> A null P L 526 526 missense 0.666 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1222252181 9q34.3 9 136291022G> A null P S 531 531 missense 0.026 benign 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1284072332 9q34.3 9 136291016T> G null S R 533 533 missense 0.009 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs991511788 9q34.3 9 136291012G> A null A V 534 534 missense 0.869 possibly damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs958914592 9q34.3 9 136291001G> T null Q K 538 538 missense 0.125 benign 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1461215934 9q34.3 9 136290995A> G null C R 540 540 missense 0.996 probably damaging 0.12 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1035983362 9q34.3 9 136290994C> G null C S 540 540 missense 0.99 probably damaging 0.78 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1003527002 9q34.3 9 136290988C> T null R Q 542 542 missense 0.001 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1238245457 9q34.3 9 136290989G> A null R W 542 542 missense 0.624 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1156424910 9q34.3 9 136290978C> G null W C 545 545 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1406720715 9q34.3 9 136290965T> C null T A 550 550 missense 0.0 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs967549037 9q34.3 9 136290964G> T null T N 550 550 missense 0.0 benign 0.09 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1414852206 9q34.3 9 136290954G> T null D E 553 553 missense 0.0 benign 0.71 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1403832113 9q34.3 9 136290952G> C null P R 554 554 missense 0.56 possibly damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1178238448 9q34.3 9 136290953G> A null P S 554 554 missense 0.339 benign 0.05 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1332179064 9q34.3 9 136290943C> T null R K 557 557 missense 0.179 benign 0.29 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1020392970 9q34.3 9 136290940A> G null L P 558 558 missense 0.001 benign 0.63 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1279222473 9q34.3 9 136290937C> T null R Q 559 559 missense 0.127 benign 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1011679813 9q34.3 9 136290938G> A null R W 559 559 missense 0.0 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1261643649 9q34.3 9 136290928A> T null L Q 562 562 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1323527509 9q34.3 9 136290925T> A null E V 563 563 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1178991617 9q34.3 9 136290921C> A null R S 564 564 missense 0.99 probably damaging 0.05 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1258198436 9q34.3 9 136290922C> G null R T 564 564 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1231957270 9q34.3 9 136290913G> A null P L 567 567 missense 0.871 possibly damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1032472983 9q34.3 9 136290901C> T null R Q 571 571 missense 0.329 benign 0.17 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs893573273 9q34.3 9 136290902G> A null R W 571 571 missense 0.007 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1426908290 9q34.3 9 136290894C> T null W * 573 573 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1469275378 9q34.3 9 136290889C> A null S I 575 575 missense 0.725 possibly damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs888778523 9q34.3 9 136290884C> T null G S 577 577 missense 0.001 benign 0.24 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1328200107 9q34.3 9 136290881C> T null V M 578 578 missense 0.067 benign 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1350746950 9q34.3 9 136290877T> G null Q P 579 579 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1281817556 9q34.3 9 136290872C> T null A T 581 581 missense 0.501 possibly damaging 0.25 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs933205106 9q34.3 9 136290868C> T null G D 582 582 missense 0.863 possibly damaging 0.15 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1345248745 9q34.3 9 136290869C> T null G S 582 582 missense 0.2 benign 0.85 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1272458399 9q34.3 9 136290842C> T null G S 591 591 missense 0.233 benign 0.48 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs937391461 9q34.3 9 136290833C> T null V I 594 594 missense 0.001 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs928612690 9q34.3 9 136290829G> A null S L 595 595 missense 0.007 benign 0.1 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1224230403 9q34.3 9 136290821T> C null K E 598 598 missense 0.373 benign 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1266270718 9q34.3 9 136290819C> A null K N 598 598 missense 0.634 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1480008084 9q34.3 9 136290818G> A null H Y 599 599 missense 0.627 possibly damaging 0.29 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1194032783 9q34.3 9 136290808G> C null P R 602 602 missense 0.026 benign 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1167474283 9q34.3 9 136290797C> T null G R 606 606 missense 0.009 benign 0.85 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs981743023 9q34.3 9 136290796C> A null G V 606 606 missense 0.532 possibly damaging 0.28 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1426844542 9q34.3 9 136290793C> A null S I 607 607 missense 0.917 probably damaging 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1301548405 9q34.3 9 136290780G> T null N K 611 611 missense 0.316 benign 0.52 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1365143303 9q34.3 9 136290763T> C null K R 617 617 missense 0.802 possibly damaging 0.41 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1020466681 9q34.3 9 136290757G> A null T M 619 619 missense 0.0 benign 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs990288085 9q34.3 9 136290751C> T null R Q 621 621 missense 0.005 benign 0.61 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1359561433 9q34.3 9 136290752G> A null R W 621 621 missense 0.644 possibly damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1205563020 9q34.3 9 136290749G> C null P A 622 622 missense 0.986 probably damaging 0.08 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1205563020 9q34.3 9 136290749G> T null P T 622 622 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1263581930 9q34.3 9 136290746A> T null C S 623 623 missense 0.007 benign 0.12 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1192350768 9q34.3 9 136290733C> T null R Q 627 627 missense 0.251 benign 0.15 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1032132004 9q34.3 9 136290734G> A null R W 627 627 missense 0.988 probably damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1161677910 9q34.3 9 136290730C> T null G E 628 628 missense 0.99 probably damaging 0.05 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1007715740 9q34.3 9 136290731C> T null G R 628 628 missense 0.757 possibly damaging 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1007715740 9q34.3 9 136290731C> G null G R 628 628 missense 0.757 possibly damaging 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1030428231 9q34.3 9 136290715G> A null S L 633 633 missense 0.006 benign 0.38 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs897752752 9q34.3 9 136290697A> G null L S 639 639 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs941882694 9q34.3 9 136290694C> T null R Q 640 640 missense 0.019 benign 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1036240966 9q34.3 9 136290695G> A null R W 640 640 missense 0.791 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1312266610 9q34.3 9 136290692C> G null E Q 641 641 missense 0.997 probably damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1239273696 9q34.3 9 136290687G> T null F L 642 642 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1358373044 9q34.3 9 136290689A> G null F L 642 642 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1262317629 9q34.3 9 136290683G> A null R C 644 644 missense 0.019 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1348301201 9q34.3 9 136290682C> T null R H 644 644 missense 0.096 benign 0.14 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1204282067 9q34.3 9 136290679T> A null Q L 645 645 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1462551093 9q34.3 9 136290676T> C null K R 646 646 missense 0.996 probably damaging 0.14 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1462551093 9q34.3 9 136290676T> G null K T 646 646 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs887599418 9q34.3 9 136290674C> T null A T 647 647 missense 0.945 probably damaging 0.32 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1055911967 9q34.3 9 136290673G> A null A V 647 647 missense 0.353 benign 0.09 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1184279382 9q34.3 9 136290671G> A null Q * 648 648 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1362237824 9q34.3 9 136290670T> C null Q R 648 648 missense 0.006 benign 0.82 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1453501720 9q34.3 9 136290667G> A null A V 649 649 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs937405218 9q34.3 9 136290665G> C null R G 650 650 missense 0.251 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs928714540 9q34.3 9 136290664C> T null R Q 650 650 missense 0.95 probably damaging 0.1 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs937405218 9q34.3 9 136290665G> A null R W 650 650 missense 0.988 probably damaging 0.21 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1391413262 9q34.3 9 136290661C> A null R L 651 651 missense 0.851 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1391413262 9q34.3 9 136290661C> T null R Q 651 651 missense 0.251 benign 0.18 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1334171100 9q34.3 9 136290662G> A null R W 651 651 missense 0.988 probably damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs981863102 9q34.3 9 136290658C> A null R L 652 652 missense 0.111 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs981863102 9q34.3 9 136290658C> G null R P 652 652 missense 0.435 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs981863102 9q34.3 9 136290658C> T null R Q 652 652 missense 0.006 benign 0.8 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1333553312 9q34.3 9 136290659G> A null R W 652 652 missense 0.006 benign 0.05 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1481019316 9q34.3 9 136290646T> G null E A 656 656 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1418711200 9q34.3 9 136290634G> A null S L 660 660 missense 0.009 benign 0.63 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs913491055 9q34.3 9 136290632C> T null A T 661 661 missense 0.954 probably damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs990361909 9q34.3 9 136290626G> A null R C 663 663 missense 0.908 possibly damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs990361909 9q34.3 9 136290626G> C null R G 663 663 missense 0.506 possibly damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs957570797 9q34.3 9 136290620G> C null R G 665 665 missense 0.071 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1462051133 9q34.3 9 136290619C> T null R Q 665 665 missense 0.001 benign 0.18 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs957570797 9q34.3 9 136290620G> A null R W 665 665 missense 0.604 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs1018846605 9q34.3 9 136290613A> T null L Q 667 667 missense 0.071 benign 0.05 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1299328758 9q34.3 9 136290607C> T null S N 669 669 missense 0.007 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs953260066 9q34.3 9 136290604C> T null R Q 670 670 missense 0.005 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs985621374 9q34.3 9 136290605G> A null R W 670 670 missense 0.791 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1030045685 9q34.3 9 136290601C> T null R K 671 671 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1221422522 9q34.3 9 136290600C> G null R S 671 671 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1307945946 9q34.3 9 136290585G> T null Y * 676 676 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs961703126 9q34.3 9 136290583C> T null R Q 677 677 missense 0.155 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs997184545 9q34.3 9 136290584G> A null R W 677 677 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1223477262 9q34.3 9 136290573C> A null R S 680 680 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1271253432 9q34.3 9 136290569C> A null A S 682 682 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1006127933 9q34.3 9 136290566C> T null V I 683 683 missense 0.037 benign 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1430797229 9q34.3 9 136290563G> A null L F 684 684 missense 0.966 probably damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1056054215 9q34.3 9 136290560C> T null G S 685 685 missense 0.937 probably damaging 0.11 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1302291380 9q34.3 9 136290545C> T null V M 690 690 missense 0.449 possibly damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1216229373 9q34.3 9 136290535C> T null R Q 693 693 missense 0.005 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1362665039 9q34.3 9 136290536G> A null R W 693 693 missense 0.788 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs913228915 9q34.3 9 136290517A> G null V A 699 699 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1054664823 9q34.3 9 136290511A> G null F S 701 701 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1357475301 9q34.3 9 136290503T> A null S C 704 704 missense 0.988 probably damaging 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1222287375 9q34.3 9 136290490G> T null S Y 708 708 missense 0.999 probably damaging 0.05 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1487159288 9q34.3 9 136290488C> T null G R 709 709 missense 0.842 possibly damaging 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1037217046 9q34.3 9 136290043G> A null A V 713 713 missense 0.887 possibly damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1283851674 9q34.3 9 136290040G> A null S F 714 714 missense 0.598 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs907627959 9q34.3 9 136290038C> T null G R 715 715 missense 1.0 probably damaging 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1255458952 9q34.3 9 136290034C> T null S N 716 716 missense 0.349 benign 0.16 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1197801486 9q34.3 9 136290025G> A null S F 719 719 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs984554678 9q34.3 9 136290020C> G null V L 721 721 missense 0.166 benign 0.09 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs984554678 9q34.3 9 136290020C> T null V M 721 721 missense 0.806 possibly damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs930342382 9q34.3 9 136290009C> T null W * 724 724 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs926968505 9q34.3 9 136290007C> T null S N 725 725 missense 0.996 probably damaging 0.08 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1431945324 9q34.3 9 136289993C> T null G S 730 730 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs980451932 9q34.3 9 136289988C> T null M I 731 731 missense 0.029 benign 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1173388587 9q34.3 9 136289984G> C null L V 733 733 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1376549139 9q34.3 9 136289978C> T null G S 735 735 missense 0.301 benign 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1368247226 9q34.3 9 136289974T> C null Q R 736 736 missense 0.706 possibly damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs971308214 9q34.3 9 136289965G> A null P L 739 739 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1347365871 9q34.3 9 136289962C> G null G A 740 740 missense 0.58 possibly damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1422312492 9q34.3 9 136286687A> T null L Q 744 744 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1164260181 9q34.3 9 136286670A> C null W G 750 750 missense 0.01 benign 0.08 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1055697739 9q34.3 9 136286661C> G null A P 753 753 missense 0.784 possibly damaging 0.3 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1055697739 9q34.3 9 136286661C> T null A T 753 753 missense 0.996 probably damaging 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs937606904 9q34.3 9 136286656C> A null E D 754 754 missense 0.506 possibly damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1157451003 9q34.3 9 136286645G> A null P L 758 758 missense 0.056 benign 0.02 deleterious - low confidence 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1398902745 9q34.3 9 136286625G> T null Q K 765 765 missense 0.347 benign 0.41 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1312984627 9q34.3 9 136286619C> G null G R 767 767 missense 0.026 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1393935853 9q34.3 9 136286615C> T null R Q 768 768 missense 0.005 benign 0.58 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs928856770 9q34.3 9 136286616G> A null R W 768 768 missense 0.003 benign 0.12 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1311499959 9q34.3 9 136286613C> G null D H 769 769 missense 0.878 possibly damaging 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1242050672 9q34.3 9 136286607G> C null P A 771 771 missense 0.997 probably damaging 0.15 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1242050672 9q34.3 9 136286607G> A null P S 771 771 missense 0.998 probably damaging 0.05 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1352921214 9q34.3 9 136286603A> G null V A 772 772 missense 0.001 benign 0.26 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs981578363 9q34.3 9 136286604C> T null V M 772 772 missense 0.037 benign 0.17 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs946233875 9q34.3 9 136286588G> A null S L 777 777 missense 0.125 benign 0.17 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1239286961 9q34.3 9 136286585G> A null P L 778 778 missense 0.179 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1482283336 9q34.3 9 136286573G> T null S Y 782 782 missense 0.25 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1251508978 9q34.3 9 136286565G> C null L V 785 785 missense 0.232 benign 0.09 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs913676196 9q34.3 9 136286556G> T null L M 788 788 missense 0.887 possibly damaging 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs987896331 9q34.3 9 136286547G> A null R C 791 791 missense 0.003 benign 0.17 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs957967262 9q34.3 9 136286546C> T null R H 791 791 missense 0.0 benign 0.66 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs957967262 9q34.3 9 136286546C> A null R L 791 791 missense 0.077 benign 0.25 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1435919898 9q34.3 9 136286543T> C null Y C 792 792 missense 0.972 probably damaging 0.12 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1032022159 9q34.3 9 136286538G> T null P T 794 794 missense 0.999 probably damaging 0.32 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs953274949 9q34.3 9 136286534C> T null R Q 795 795 missense 0.035 benign 0.27 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs985768058 9q34.3 9 136286535G> A null R W 795 795 missense 0.939 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1306841318 9q34.3 9 136286527C> G null M I 797 797 missense 0.0 benign 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1030247792 9q34.3 9 136286525C> T null C Y 798 798 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1234943368 9q34.3 9 136286523T> C null I V 799 799 missense 0.001 benign 0.23 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1280631032 9q34.3 9 136286510G> A null P L 803 803 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1209466645 9q34.3 9 136286505C> G null E Q 805 805 missense 0.85 possibly damaging 0.05 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1252155542 9q34.3 9 136286496G> A null H Y 808 808 missense 0.179 benign 0.16 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs897641585 9q34.3 9 136286489C> G null G A 810 810 missense 0.826 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs897641585 9q34.3 9 136286489C> T null G D 810 810 missense 0.824 possibly damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1015453363 9q34.3 9 136286478A> G null S P 814 814 missense 0.0 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs887840718 9q34.3 9 136286466G> C null R G 818 818 missense 0.021 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1430995958 9q34.3 9 136286465C> T null R Q 818 818 missense 0.0 benign 0.76 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs887840718 9q34.3 9 136286466G> A null R W 818 818 missense 0.404 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1174724692 9q34.3 9 136286456T> A null Q L 821 821 missense 0.744 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs1564319284 9q34.3 9 136286451G> A null Q * 823 823 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1328791509 9q34.3 9 136286444T> G null Q P 825 825 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1399342715 9q34.3 9 136286441G> A null A V 826 826 missense 0.719 possibly damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs937308964 9q34.3 9 136286430T> C null T A 830 830 missense 0.429 benign 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs907498997 9q34.3 9 136286429G> A null T I 830 830 missense 0.53 possibly damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs1045977935 9q34.3 9 136286427C> T null A T 831 831 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1296426640 9q34.3 9 136286426G> A null A V 831 831 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1197002029 9q34.3 9 136286423T> C null K R 832 832 missense 0.006 benign 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1257650125 9q34.3 9 136286418G> A null L F 834 834 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1469244899 9q34.3 9 136286415T> C null K E 835 835 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs946229963 9q34.3 9 136286412G> C null Q E 836 836 missense 0.327 benign 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1245535588 9q34.3 9 136286408C> T null R Q 837 837 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs913385431 9q34.3 9 136286409G> A null R W 837 837 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1488455540 9q34.3 9 136286406C> T null V I 838 838 missense 0.042 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs936450269 9q34.3 9 136286403C> T null D N 839 839 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1422430738 9q34.3 9 136286381T> C null Q R 846 846 missense 0.217 benign 0.56 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1325303516 9q34.3 9 136286373C> T null E K 849 849 missense 0.045 benign 0.14 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1347862230 9q34.3 9 136286369G> A null A V 850 850 missense 0.029 benign 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs36173623 9q34.3 9 136286366A> G null L P 851 851 missense 0.003 benign 0.23 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1277851957 9q34.3 9 136286363T> C null D G 852 852 missense 0.998 probably damaging 0.05 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1288168602 9q34.3 9 136286358C> T null V I 854 854 missense 0.01 benign 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1451332261 9q34.3 9 136286352C> T null D N 856 856 missense 0.7 possibly damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1217199976 9q34.3 9 136286349G> C null P A 857 857 missense 0.083 benign 1.0 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs976014265 9q34.3 9 136286331G> A null R C 863 863 missense 0.003 benign 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1489006780 9q34.3 9 136286330C> T null R H 863 863 missense 0.665 possibly damaging 0.02 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs962242800 9q34.3 9 136286327G> A null S L 864 864 missense 0.001 benign 0.45 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1006428123 9q34.3 9 136286304C> T null A T 872 872 missense 0.009 benign 0.21 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1159252710 9q34.3 9 136286303G> A null A V 872 872 missense 0.238 benign 0.17 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs887870448 9q34.3 9 136286301G> A null P S 873 873 missense 0.998 probably damaging 0.16 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1034388231 9q34.3 9 136286297G> A null T M 874 874 missense 0.073 benign 0.14 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1046431237 9q34.3 9 136286292C> A null A S 876 876 missense 0.056 benign 0.17 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1046431237 9q34.3 9 136286292C> T null A T 876 876 missense 0.0 benign 0.31 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs892017860 9q34.3 9 136286286G> A null P S 878 878 missense 0.661 possibly damaging 0.23 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1054631010 9q34.3 9 136286282G> A null T M 879 879 missense 0.895 possibly damaging 0.04 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs936117941 9q34.3 9 136286280G> C null L V 880 880 missense 0.578 possibly damaging 0.49 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1179005618 9q34.3 9 136286273G> T null T N 882 882 missense 0.014 benign 0.16 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs925065619 9q34.3 9 136286268C> G null A P 884 884 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1417789033 9q34.3 9 136286261G> A null P L 886 886 missense 0.53 possibly damaging 0.13 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1403068384 9q34.3 9 136286256C> G null A P 888 888 missense 0.672 possibly damaging 0.08 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1416215995 9q34.3 9 136286255G> A null A V 888 888 missense 0.25 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1332523833 9q34.3 9 136286247G> C null P A 891 891 missense 0.006 benign 0.05 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1447722512 9q34.3 9 136286242G> T null N K 892 892 missense 0.32 benign 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1311925336 9q34.3 9 136286234C> T null R K 895 895 missense 0.726 possibly damaging 0.31 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1375095462 9q34.3 9 136286222C> G null G A 899 899 missense 0.169 benign 0.39 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs922976615 9q34.3 9 136286214C> A null V L 902 902 missense 0.056 benign 0.07 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs922976615 9q34.3 9 136286214C> T null V M 902 902 missense 0.455 possibly damaging 0.03 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1257074892 9q34.3 9 136286205G> A null Q * 905 905 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1201668692 9q34.3 9 136286196G> C null P A 908 908 missense 0.71 possibly damaging 0.08 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1201668692 9q34.3 9 136286196G> T null P T 908 908 missense 0.849 possibly damaging 0.12 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs976131358 9q34.3 9 136286183G> A null P L 912 912 missense 0.038 benign 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs907750311 9q34.3 9 136286177T> C null Y C 914 914 missense 0.01 benign 0.44 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1177987281 9q34.3 9 136286175A> G null F L 915 915 missense 0.013 benign 0.28 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs879218719 9q34.3 9 136286167G> C null D E 917 917 missense 0.898 possibly damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1466365798 9q34.3 9 136286163C> T null E K 919 919 missense 0.009 benign 0.05 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1034419303 9q34.3 9 136286153G> A null S L 922 922 missense 0.0 benign 0.35 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1302665627 9q34.3 9 136286150C> T null W * 923 923 stop gained 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1333318553 9q34.3 9 136286140G> T null S R 926 926 missense 0.673 possibly damaging 0.12 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 Ensembl rs1001559376 9q34.3 9 136286136C> G null E Q 928 928 missense 0.631 possibly damaging 0.01 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1024325849 9q34.3 9 136286114G> A null P L 935 935 missense 0.011 benign 0.93 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs971424527 9q34.3 9 136286115G> T null P T 935 935 missense 0.514 possibly damaging 0.06 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1218922071 9q34.3 9 136286108G> A null A V 937 937 missense 0.532 possibly damaging 0.05 deleterious 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs892053449 9q34.3 9 136286100C> T null E K 940 940 missense 0.003 benign 0.67 tolerated 0 A0A075B739 CCDC187 Coiled-coil domain-containing protein 187 TOPMed rs1055116212 9q34.3 9 136286088G> A null R * 944 944 stop gained 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852362 8q24.3 8 144354761T> C null K E 3 3 missense 0.735 possibly damaging 0.02 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1196226259 8q24.3 8 144354754C> A null R L 5 5 missense 0.028 benign 0.02 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1196226259 8q24.3 8 144354754C> T null R Q 5 5 missense 0.045 benign 0.08 tolerated - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1243519434 8q24.3 8 144354751G> A null A V 6 6 missense 0.001 benign 0.08 tolerated - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1475429575 8q24.3 8 144354749C> T null G S 7 7 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs1042407032 8q24.3 8 144354740G> A null P S 10 10 missense 0.092 benign 0.03 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852350 8q24.3 8 144354737T> C null T A 11 11 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1420889290 8q24.3 8 144354736G> A null T M 11 11 missense 0.177 benign 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs782792592 8q24.3 8 144354730G> A null S F 13 13 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1386565352 8q24.3 8 144354710G> A null L F 20 20 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852345 8q24.3 8 144354705C> T null W * 21 21 stop gained 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1431808620 8q24.3 8 144354698C> T null G R 24 24 missense 0.358 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852343 8q24.3 8 144354694A> G null L P 25 25 missense 0.773 possibly damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs782135137 8q24.3 8 144354692T> A null T S 26 26 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852340 8q24.3 8 144354687G> T null C * 27 27 stop gained 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1355330431 8q24.3 8 144354688C> A null C F 27 27 missense 0.193 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1235005161 8q24.3 8 144354689A> G null C R 27 27 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1355330431 8q24.3 8 144354688C> T null C Y 27 27 missense 0.264 benign 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1207866428 8q24.3 8 144354685G> A null P L 28 28 missense 0.042 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1263646994 8q24.3 8 144354683C> T null E K 29 29 missense 0.747 possibly damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852339 8q24.3 8 144354680G> A null R C 30 30 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1192108089 8q24.3 8 144354675G> T null H Q 31 31 missense 0.08 benign 0.02 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852338 8q24.3 8 144354671C> T null A T 33 33 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs370391854 8q24.3 8 144354670G> A null A V 33 33 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1260389799 8q24.3 8 144354668T> A null R * 34 34 stop gained 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1260389799 8q24.3 8 144354668T> C null R G 34 34 missense 0.167 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852328 8q24.3 8 144354667C> T null R K 34 34 missense 0.003 benign 0.16 tolerated - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1044284672 8q24.3 8 144354665G> T null R S 35 35 missense 0.095 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852325 8q24.3 8 144354661A> T null L H 36 36 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1190607025 8q24.3 8 144354656T> G null N H 38 38 missense 0.773 possibly damaging 0.03 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs782739175 8q24.3 8 144354652T> C null N S 39 39 missense 0.985 probably damaging 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs782487635 8q24.3 8 144354649C> T null S N 40 40 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs782487635 8q24.3 8 144354649C> G null S T 40 40 missense 0.957 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852320 8q24.3 8 144354644A> G null Y H 42 42 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1387681774 8q24.3 8 144354641G> A null P S 43 43 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852317 8q24.3 8 144354638A> T null F I 44 44 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs2272663 8q24.3 8 144354636G> C null F L 44 44 0.4323 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs2272663 8q24.3 8 144354636G> T null F L 44 44 0.4323 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs972365299 8q24.3 8 144354634A> C null V G 45 45 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs917204249 8q24.3 8 144354635C> T null V M 45 45 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1339782106 8q24.3 8 144354631T> A null Q L 46 46 missense 0.586 possibly damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852314 8q24.3 8 144354628T> C null Q R 47 47 missense 0.764 possibly damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852313 8q24.3 8 144354625T> C null E G 48 48 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs1564646324 8q24.3 8 144354620T> G null N H 50 50 missense 0.799 possibly damaging 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs569096018 8q24.3 8 144354618G> C null N K 50 50 0.002396 missense 0.437 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1215366987 8q24.3 8 144354617C> A null G C 51 51 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs113558963 8q24.3 8 144354147C> A null A S 52 52 missense 0.093 benign 0.03 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1196382423 8q24.3 8 144354140G> A null A V 54 54 missense 0.056 benign 0.06 tolerated - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs781803109 8q24.3 8 144354137C> T null R K 55 55 missense 0.003 benign 0.05 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs781803109 8q24.3 8 144354137C> G null R T 55 55 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852174 8q24.3 8 144354134T> C null D G 56 56 missense 0.595 possibly damaging 0.03 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1243288705 8q24.3 8 144354135C> T null D N 56 56 missense 0.119 benign 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs782697417 8q24.3 8 144354131A> G null L P 57 57 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs782164438 8q24.3 8 144354128C> G null G A 58 58 missense 0.792 possibly damaging 0.02 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs782164438 8q24.3 8 144354128C> T null G D 58 58 missense 0.961 probably damaging 0.02 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1423566957 8q24.3 8 144354129C> T null G S 58 58 missense 0.943 probably damaging 0.02 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs782017518 8q24.3 8 144354126G> A null L F 59 59 missense 0.202 benign 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs944157656 8q24.3 8 144354123G> C null P A 60 60 missense 0.222 benign 0.02 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852170 8q24.3 8 144354122G> A null P L 60 60 missense 0.378 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs944157656 8q24.3 8 144354123G> A null P S 60 60 missense 0.039 benign 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs944157656 8q24.3 8 144354123G> T null P T 60 60 missense 0.378 benign 0.01 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1400721623 8q24.3 8 144354120G> A null R C 61 61 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs374933177 8q24.3 8 144354119C> A null R L 61 61 missense 0.106 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs782773021 8q24.3 8 144354117C> T null V I 62 62 missense 0.01 benign 0.02 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs782112141 8q24.3 8 144354113C> T null R Q 63 63 missense 0.709 possibly damaging 0.02 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1246989722 8q24.3 8 144354110C> T null R H 64 64 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1246989722 8q24.3 8 144354110C> G null R P 64 64 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1284556772 8q24.3 8 144354107C> T null G E 65 65 missense 0.907 possibly damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852165 8q24.3 8 144354105G> A null R C 66 66 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852164 8q24.3 8 144354104C> T null R H 66 66 missense 0.822 possibly damaging 0.0 deleterious - low confidence 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852163 8q24.3 8 144354098G> A null P L 68 68 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1207634301 8q24.3 8 144354092G> A null A V 70 70 missense 0.405 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs781960407 8q24.3 8 144354090G> A null R C 71 71 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs781960407 8q24.3 8 144354090G> C null R G 71 71 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1260459642 8q24.3 8 144354089C> T null R H 71 71 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1260459642 8q24.3 8 144354089C> G null R P 71 71 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1477123738 8q24.3 8 144354087C> G null D H 72 72 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs1564645601 8q24.3 8 144354084G> A null L F 73 73 missense 0.023 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852160 8q24.3 8 144354081C> A null V F 74 74 missense 0.018 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852160 8q24.3 8 144354081C> G null V L 74 74 missense 0.001 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852146 8q24.3 8 144354078C> G null A P 75 75 missense 0.013 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852146 8q24.3 8 144354078C> T null A T 75 75 missense 0.228 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs868980143 8q24.3 8 144354075C> A null A S 76 76 missense 0.133 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs981168055 8q24.3 8 144354071G> C null A G 77 77 missense 0.34 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs925591824 8q24.3 8 144354072C> T null A T 77 77 missense 0.007 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1472676483 8q24.3 8 144354068G> A null A V 78 78 missense 0.023 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1161637002 8q24.3 8 144354065G> A null P L 79 79 missense 0.404 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1382383929 8q24.3 8 144354062G> A null P L 80 80 missense 0.876 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852144 8q24.3 8 144354059C> T null G D 81 81 missense 0.133 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs782334659 8q24.3 8 144354060C> T null G S 81 81 missense 0.093 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs782198999 8q24.3 8 144354056G> A null A V 82 82 missense 0.094 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1358765955 8q24.3 8 144354047T> C null H R 85 85 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1297654268 8q24.3 8 144354048G> A null H Y 85 85 missense 0.009 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs781924578 8q24.3 8 144354045C> T null A T 86 86 missense 0.041 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1334755395 8q24.3 8 144354044G> A null A V 86 86 missense 0.067 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs782425295 8q24.3 8 144354042G> A null R W 87 87 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1339612792 8q24.3 8 144354039G> A null R C 88 88 missense 0.431 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1242373434 8q24.3 8 144354038C> A null R L 88 88 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs879964076 8q24.3 8 144354030G> A null L F 91 91 missense 0.145 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1353932469 8q24.3 8 144354027G> A null L F 92 92 missense 0.984 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1353932469 8q24.3 8 144354027G> C null L V 92 92 missense 0.962 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852135 8q24.3 8 144354024G> A null H Y 93 93 missense 0.996 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs781940365 8q24.3 8 144354021G> T null P T 94 94 missense 0.03 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1239061946 8q24.3 8 144354015G> A null P S 96 96 missense 0.706 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1239061946 8q24.3 8 144354015G> T null P T 96 96 missense 0.328 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs782654906 8q24.3 8 144354010G> C null H Q 97 97 missense 0.8 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1483954310 8q24.3 8 144354012G> A null H Y 97 97 missense 0.053 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1442154606 8q24.3 8 144354009G> A null R C 98 98 missense 0.001 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1442154606 8q24.3 8 144354009G> C null R G 98 98 missense 0.106 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852128 8q24.3 8 144354003G> A null P S 100 100 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1025457549 8q24.3 8 144353999C> T null G E 101 101 missense 0.961 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1382625897 8q24.3 8 144354000C> T null G R 101 101 missense 0.51 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs782506186 8q24.3 8 144353994G> A null L F 103 103 missense 0.017 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs797043057 8q24.3 8 144353993A> T null L H 103 103 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs782506186 8q24.3 8 144353994G> T null L I 103 103 missense 0.01 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs75904242 8q24.3 8 144353990G> T null A E 104 104 missense 0.824 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1401386407 8q24.3 8 144353991C> G null A P 104 104 missense 0.93 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852127 8q24.3 8 144353984C> T null G D 106 106 missense 0.007 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs115378539 8q24.3 8 144353985C> G null G R 106 106 0.002396 missense 0.528 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs188810340 8q24.3 8 144353979G> A null R C 108 108 0.004593 missense 0.021 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1015385465 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144353978C> T null R H 108 108 missense 0.063 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1015385465 8q24.3 8 144353978C> A null R L 108 108 missense 0.015 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1015385465 8q24.3 8 144353978C> G null R P 108 108 missense 0.808 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1313397046 8q24.3 8 144353973G> A null P S 110 110 missense 0.125 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs561867712 8q24.3 8 144353966G> A null A V 112 112 missense 0.001 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs888348564 8q24.3 8 144353964G> A null Q * 113 113 stop gained 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs888348564 8q24.3 8 144353964G> C null Q E 113 113 missense 0.058 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs145236969 8q24.3 8 144353958G> A null R * 115 115 0.002196 stop gained 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs573764617 8q24.3 8 144353957C> A null R L 115 115 missense 0.005 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs573764617 8q24.3 8 144353957C> T null R Q 115 115 missense 0.356 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs114731957 8q24.3 8 144353861G> A null P L 117 117 0.007588 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs868913335 8q24.3 8 144353858C> T null R Q 118 118 missense 0.485 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852091 8q24.3 8 144353859G> A null R W 118 118 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852089 8q24.3 8 144353856T> A null K * 119 119 stop gained 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852089 8q24.3 8 144353856T> C null K E 119 119 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1299975657 8q24.3 8 144353850G> C null L V 121 121 missense 0.994 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs981066605 8q24.3 8 144353843G> A null P L 123 123 missense 0.461 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852088 8q24.3 8 144353844G> A null P S 123 123 missense 0.031 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1260587678 8q24.3 8 144353840G> C null P R 124 124 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852084 8q24.3 8 144353841G> A null P S 124 124 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs782020514 8q24.3 8 144353837C> T null G D 125 125 missense 0.999 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852081 8q24.3 8 144353832G> A null R W 127 127 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1554852079 8q24.3 8 144353829G> C null R G 128 128 missense 0.326 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1318985078 8q24.3 8 144353828C> T null R Q 128 128 missense 0.566 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1554852079 8q24.3 8 144353829G> A null R W 128 128 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1198388402 8q24.3 8 144353822T> C null Q R 130 130 missense 0.994 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1250021595 8q24.3 8 144353820C> A null V F 131 131 missense 0.175 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1250021595 8q24.3 8 144353820C> T null V I 131 131 missense 0.035 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852076 8q24.3 8 144353817C> T null G R 132 132 missense 0.094 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852075 8q24.3 8 144353813G> T null A D 133 133 missense 0.998 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852075 8q24.3 8 144353813G> A null A V 133 133 missense 0.996 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs917934681 8q24.3 8 144353810G> A null P L 134 134 missense 0.006 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs1564645197 8q24.3 8 144353805C> T null A T 136 136 missense 0.031 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs782393304 8q24.3 8 144353798G> C null A G 138 138 missense 0.513 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1266683697 8q24.3 8 144353795G> C null A G 139 139 missense 0.792 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1266683697 8q24.3 8 144353795G> A null A V 139 139 missense 0.764 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1195702707 8q24.3 8 144353787C> T null A T 142 142 missense 0.237 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1477482075 8q24.3 8 144353781G> A null R * 144 144 stop gained 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1168270309 8q24.3 8 144353780C> T null R Q 144 144 missense 0.994 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852018 8q24.3 8 144353525T> C null N D 146 146 missense 0.012 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1176342820 8q24.3 8 144353521C> T null G E 147 147 missense 0.987 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1467532318 8q24.3 8 144353518A> G null I T 148 148 missense 0.897 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs782398960 8q24.3 8 144353519T> C null I V 148 148 missense 0.237 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852017 8q24.3 8 144353515A> G null L P 149 149 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852016 8q24.3 8 144353512C> T null G E 150 150 missense 0.943 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852015 8q24.3 8 144353509G> A null P L 151 151 missense 0.872 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs782790382 8q24.3 8 144353510G> A null P S 151 151 missense 0.441 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs6989631 8q24.3 8 144353503T> A null H L 153 153 missense 0.086 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs6989631 8q24.3 8 144353503T> C null H R 153 153 missense 0.007 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,gnomAD rs193008691 8q24.3 8 144353504G> A null H Y 153 153 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs782550880 8q24.3 8 144353501G> C null R G 154 154 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852012 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q24.3 8 144353497G> A null P L 155 155 missense 0.019 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1218501866 8q24.3 8 144353493T> G null E D 156 156 missense 0.765 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs782484093 8q24.3 8 144353489G> C null Q E 158 158 missense 0.071 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852011 8q24.3 8 144353486G> A null H Y 159 159 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852010 8q24.3 8 144353474G> A null R * 163 163 stop gained 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs903983121 8q24.3 8 144353473C> G null R P 163 163 missense 0.985 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs903983121 8q24.3 8 144353473C> T null R Q 163 163 missense 0.96 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1246715660 8q24.3 8 144353467G> A null P L 165 165 missense 0.011 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1246715660 8q24.3 8 144353467G> C null P R 165 165 missense 0.775 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1477427434 8q24.3 8 144353464C> T null G D 166 166 missense 0.121 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs550901004 8q24.3 8 144353461T> C null H R 167 167 2.0E-4 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs781818285 8q24.3 8 144353462G> A null H Y 167 167 missense 0.001 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554852005 8q24.3 8 144353458A> C null L R 168 168 missense 0.663 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs782458098 8q24.3 8 144353459G> C null L V 168 168 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1045234025 8q24.3 8 144353452G> A null P L 170 170 missense 0.852 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1045234025 8q24.3 8 144353452G> T null P Q 170 170 missense 0.597 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1045234025 8q24.3 8 144353452G> C null P R 170 170 missense 0.938 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554851999 8q24.3 8 144353453G> A null P S 170 170 missense 0.224 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1408372419 8q24.3 8 144353447G> A null R C 172 172 missense 0.06 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1325774651 8q24.3 8 144353446C> T null R H 172 172 missense 0.96 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1325774651 8q24.3 8 144353446C> A null R L 172 172 missense 0.817 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1325774651 8q24.3 8 144353446C> G null R P 172 172 missense 0.969 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1408372419 8q24.3 8 144353447G> T null R S 172 172 missense 0.933 probably damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs868916420 [NCI-TCGA]: Variant assessed as Somatic; impact. 8q24.3 8 144353440G> A null S L 174 174 missense 0.049 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1350496713 8q24.3 8 144353441A> G null S P 174 174 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs948256830 8q24.3 8 144353428G> T null T N 178 178 missense 0.221 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1342259246 8q24.3 8 144353429T> G null T P 178 178 missense 0.469 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1269363816 8q24.3 8 144353426G> C null P A 179 179 missense 0.01 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs781787937 8q24.3 8 144353420G> A null R C 181 181 missense 0.188 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,TOPMed,gnomAD rs781787937 8q24.3 8 144353420G> C null R G 181 181 missense 0.007 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs529029687 8q24.3 8 144353419C> T null R H 181 181 2.0E-4 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs529029687 8q24.3 8 144353419C> G null R P 181 181 2.0E-4 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1489551664 8q24.3 8 144353415C> T null W * 182 182 missense 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1489551664 8q24.3 8 144353415C> G null W C 182 182 missense 0.325 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1195056790 8q24.3 8 144353414G> C null H D 183 183 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1372795053 8q24.3 8 144353412G> C null H Q 183 183 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1195056790 8q24.3 8 144353414G> A null H Y 183 183 missense 0.001 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1165166723 8q24.3 8 144353405C> G null G R 186 186 missense 0.03 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1414769354 8q24.3 8 144353400_144353409du p null E * 188 188 stop gained 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554851979 8q24.3 8 144353398T> G null E A 188 188 missense 0.024 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1301366944 8q24.3 8 144353395G> T null P H 189 189 missense 0.54 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1424306108 8q24.3 8 144353396G> A null P S 189 189 missense 0.058 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs1564644692 8q24.3 8 144353392T> A null H L 190 190 missense 0.001 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) Ensembl rs1564644697 8q24.3 8 144353393G> T null H N 190 190 missense 0.023 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1362599103 8q24.3 8 144353386G> C null S * 192 192 missense 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554851975 8q24.3 8 144353381C> T null A T 194 194 missense 0.0 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1317596195 8q24.3 8 144353376C> A null Q H 195 195 missense 0.366 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1400472092 8q24.3 8 144353377T> G null Q P 195 195 missense 0.001 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1324420074 8q24.3 8 144353375G> A null L F 196 196 missense 0.144 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1358283902 8q24.3 8 144353368G> T null S * 198 198 missense 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554851967 8q24.3 8 144353369A> G null S P 198 198 missense 0.01 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) ExAC,gnomAD rs782749441 8q24.3 8 144353361C> A null Q H 200 200 missense 0.192 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1287474422 8q24.3 8 144353359G> A null P L 201 201 missense 0.003 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs1243395153 8q24.3 8 144353360G> T null P T 201 201 missense 0.011 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554851957 8q24.3 8 144353353C> T null G D 203 203 missense 0.189 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554851958 8q24.3 8 144353354C> T null G S 203 203 missense 0.073 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed rs1261664144 8q24.3 8 144353350A> T null V E 204 204 missense 0.876 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) TOPMed,gnomAD rs907887302 8q24.3 8 144353347G> A null T I 205 205 missense 0.015 benign 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) gnomAD rs1554851953 8q24.3 8 144353339C> T null A T 208 208 missense 0.501 possibly damaging 0 A0A075B740 TMEM249 Transmembrane protein 249 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs184511087 8q24.3 8 144353326G> A null S L 212 212 0.001597 missense 0.0 benign 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1421959976 1q32.1 1 206303452G> A null S N 49 49 missense 0.054 benign 0.09 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1477330577 1q32.1 1 206303462C> G null D E 52 52 missense 0.972 probably damaging 1.0 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782702975 1q32.1 1 206342848A> G null K R 57 57 missense 0.039 benign 0.11 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781804575 1q32.1 1 206342851A> T null D V 58 58 missense 0.078 benign 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553335637 1q32.1 1 206342850G> T null D Y 58 58 missense 0.286 benign 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553335644 1q32.1 1 206342862C> T null L F 62 62 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782471815 1q32.1 1 206342868C> A null P T 64 64 missense 0.114 benign 0.08 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782622630 1q32.1 1 206342871G> T null V F 65 65 missense 0.036 benign 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553335655 1q32.1 1 206342878G> A null C Y 67 67 missense 0.477 possibly damaging 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553335661 1q32.1 1 206342883A> G null N D 69 69 missense 0.028 benign 0.97 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553335662 1q32.1 1 206342884A> G null N S 69 69 missense 0.0 benign 0.81 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782326443 1q32.1 1 206342889C> T null L F 71 71 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782011141 1q32.1 1 206342898C> T null Q * 74 74 stop gained 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782283651 1q32.1 1 206342900G> C null Q H 74 74 missense 0.089 benign 0.12 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553335673 1q32.1 1 206342899A> T null Q L 74 74 missense 0.01 benign 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1482072730 1q32.1 1 206384023G> A null V I 78 78 missense 0.001 benign 1.0 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs201168060 1q32.1 1 206384075C> T null S L 95 95 missense 0.019 benign 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351015 1q32.1 1 206392694G> A null M I 97 97 missense 0.888 possibly damaging 0.07 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351018 1q32.1 1 206392699C> T null T I 99 99 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351024 1q32.1 1 206392704C> G null H D 101 101 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782464108 1q32.1 1 206392709G> A null M I 102 102 missense 0.007 benign 0.16 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1284382870 1q32.1 1 206392708T> C null M T 102 102 missense 0.173 benign 0.19 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1210005357 1q32.1 1 206392711A> G null Y C 103 103 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351034 1q32.1 1 206392710T> C null Y H 103 103 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782654307 1q32.1 1 206392714A> G null N S 104 104 missense 0.971 probably damaging 0.03 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782368243 1q32.1 1 206392719G> A null D N 106 106 missense 0.886 possibly damaging 0.02 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782368243 1q32.1 1 206392719G> T null D Y 106 106 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351063 1q32.1 1 206392725A> G null I V 108 108 missense 0.148 benign 0.82 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351076 1q32.1 1 206392730T> G null S R 109 109 missense 0.221 benign 0.02 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351080 1q32.1 1 206392731G> T null A S 110 110 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351086 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206392732C> T null A V 110 110 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351096 1q32.1 1 206392738G> A null S N 112 112 missense 0.685 possibly damaging 0.2 tolerated 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351102 1q32.1 1 206392739C> G null S R 112 112 missense 0.881 possibly damaging 0.01 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351118 1q32.1 1 206392749G> A null E K 116 116 missense 0.418 benign 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782366468 1q32.1 1 206392752G> T null A S 117 117 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782366468 1q32.1 1 206392752G> A null A T 117 117 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782069444 1q32.1 1 206392753C> T null A V 117 117 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B743 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553351140 1q32.1 1 206392755G> A null E K 118 118 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B748 ANXA8 Annexin A8 TOPMed,dbSNP,gnomAD rs3870786 pubmed:2530088 10q11.22 10 47483918A> C null S A 6 6 missense 0.0 benign 0 A0A075B748 ANXA8 Annexin A8 TOPMed rs1185717070 10q11.22 10 47461949G> T null L I 12 12 missense 0.485 possibly damaging 0 A0A075B748 ANXA8 Annexin A8 TOPMed,gnomAD rs1259332418 10q11.22 10 47461939C> T null R Q 15 15 missense 0.001 benign 0 A0A075B748 ANXA8 Annexin A8 TOPMed rs1194619401 10q11.22 10 47461927A> T null L Q 19 19 missense 0.766 possibly damaging 0 A0A075B748 ANXA8 Annexin A8 gnomAD rs1555221176 10q11.22 10 47461922C> T null G R 21 21 missense 0.079 benign 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349271 1q21.2 1 148808509A> G null K R 2 2 missense 0.497 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782519278 1q21.2 1 148808511G> T null G C 3 3 missense 0.985 probably damaging 0.04 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781906263 1q21.2 1 148808512G> A null G D 3 3 missense 0.97 probably damaging 0.17 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782519278 1q21.2 1 148808511G> A null G S 3 3 missense 0.934 probably damaging 0.25 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781906263 1q21.2 1 148808512G> T null G V 3 3 missense 0.98 probably damaging 0.09 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782429600 1q21.2 1 148808514A> G null T A 4 4 missense 0.398 benign 0.16 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782722887 1q21.2 1 148808519C> G null D E 5 5 missense 0.631 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782133070 1q21.2 1 148808522C> A null S R 6 6 missense 0.514 possibly damaging 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349317 1q21.2 1 148808520A> C null S R 6 6 missense 0.514 possibly damaging 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782800905 1q21.2 1 148808524G> C null G A 7 7 missense 0.902 possibly damaging 0.13 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782800905 1q21.2 1 148808524G> A null G E 7 7 missense 0.97 probably damaging 0.34 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781984267 1q21.2 1 148808523G> A null G R 7 7 missense 0.98 probably damaging 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782800905 1q21.2 1 148808524G> T null G V 7 7 missense 0.98 probably damaging 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782312957 1q21.2 1 148808527C> T null S F 8 8 missense 0.692 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC rs781937527 1q21.2 1 148808526T> C null S P 8 8 missense 0.514 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782312957 1q21.2 1 148808527C> A null S Y 8 8 missense 0.788 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349341 1q21.2 1 148808531C> A null C * 9 9 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782233919 1q21.2 1 148808530G> T null C F 9 9 missense 0.516 possibly damaging 0.13 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782233919 1q21.2 1 148808530G> A null C Y 9 9 missense 0.598 possibly damaging 0.09 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781957679 1q21.2 1 148808533G> T null C F 10 10 missense 0.516 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781957679 1q21.2 1 148808533G> A null C Y 10 10 missense 0.598 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782400477 1q21.2 1 148808535C> T null R C 11 11 missense 0.833 possibly damaging 0.11 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782400477 1q21.2 1 148808535C> A null R S 11 11 missense 0.412 benign 0.23 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349362 1q21.2 1 148808539G> T null R L 12 12 missense 0.3 benign 0.04 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782696501 1q21.2 1 148808541C> T null R * 13 13 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782533467 1q21.2 1 148808542G> T null R L 13 13 missense 0.3 benign 0.27 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782533467 1q21.2 1 148808542G> A null R Q 13 13 missense 0.412 benign 0.35 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349381 1q21.2 1 148808545G> A null C Y 14 14 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349401 1q21.2 1 148808549C> G null D E 15 15 missense 0.0 benign 0.83 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349394 1q21.2 1 148808547G> A null D N 15 15 missense 0.015 benign 0.81 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782602377 1q21.2 1 148808550T> G null F V 16 16 missense 0.003 benign 0.56 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349408 1q21.2 1 148808554G> C null G A 17 17 missense 0.902 possibly damaging 1.0 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349408 1q21.2 1 148808554G> A null G D 17 17 missense 0.97 probably damaging 0.12 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781874547 1q21.2 1 148808553G> C null G R 17 17 missense 0.98 probably damaging 0.08 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781874547 1q21.2 1 148808553G> A null G S 17 17 missense 0.934 probably damaging 0.57 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs201978164 1q21.2 1 148808558C> A null C * 18 18 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349410 1q21.2 1 148808557G> C null C S 18 18 missense 0.3 benign 0.51 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349426 1q21.2 1 148808564T> A null C * 20 20 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782048462 1q21.2 1 148808565C> T null R C 21 21 missense 0.833 possibly damaging 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781970734 1q21.2 1 148808566G> C null R P 21 21 missense 0.516 possibly damaging 0.08 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782048462 1q21.2 1 148808565C> A null R S 21 21 missense 0.412 benign 0.12 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349441 1q21.2 1 148808568G> A null A T 22 22 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs148659282 1q21.2 1 148808569C> T null A V 22 22 missense 0.748 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349447 1q21.2 1 148808572C> G null S C 23 23 missense 0.799 possibly damaging 0.1 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349447 1q21.2 1 148808572C> T null S F 23 23 missense 0.587 possibly damaging 0.06 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782428499 1q21.2 1 148808574C> T null R C 24 24 missense 0.02 benign 0.06 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782428499 1q21.2 1 148808574C> G null R G 24 24 missense 0.001 benign 0.48 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781914469 1q21.2 1 148808575G> T null R L 24 24 missense 0.142 benign 0.24 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781914469 1q21.2 1 148808575G> C null R P 24 24 missense 0.34 benign 0.18 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349460 1q21.2 1 148808578G> A null R Q 25 25 missense 0.053 benign 0.4 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349450 1q21.2 1 148808577C> T null R W 25 25 missense 0.003 benign 0.09 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782651404 1q21.2 1 148808581C> A null A D 26 26 missense 0.706 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782651404 1q21.2 1 148808581C> G null A G 26 26 missense 0.511 possibly damaging 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349470 1q21.2 1 148808584A> T null H L 27 27 missense 0.063 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349470 1q21.2 1 148808584A> G null H R 27 27 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782373952 1q21.2 1 148808587A> G null Y C 28 28 missense 0.589 possibly damaging 0.04 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782295076 1q21.2 1 148808590C> A null T K 29 29 missense 0.063 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782295076 1q21.2 1 148808590C> T null T M 29 29 missense 0.194 benign 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782295076 1q21.2 1 148808590C> G null T R 29 29 missense 0.063 benign 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs76199660 1q21.2 1 148808592C> G null P A 30 30 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349490 1q21.2 1 148808593C> T null P L 30 30 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs76199660 1q21.2 1 148808592C> T null P S 30 30 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs76199660 1q21.2 1 148808592C> A null P T 30 30 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781793369 1q21.2 1 148808595T> C null Y H 31 31 missense 0.007 benign 0.39 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782483546 1q21.2 1 148808599G> T null R L 32 32 missense 0.031 benign 0.24 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782483546 1q21.2 1 148808599G> C null R P 32 32 missense 0.239 benign 0.18 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782483546 1q21.2 1 148808599G> A null R Q 32 32 missense 0.239 benign 0.36 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782612413 1q21.2 1 148808598C> T null R W 32 32 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553349520 1q21.2 1 148808605G> A null G E 34 34 missense 0.54 possibly damaging 0.07 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781871205 1q21.2 1 148808604G> A null G R 34 34 missense 0.04 benign 0.14 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781871205 1q21.2 1 148808604G> C null G R 34 34 missense 0.04 benign 0.14 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs376390277 1q21.2 1 148808609C> A null D E 35 35 missense 0.99 probably damaging 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs376390277 1q21.2 1 148808609C> G null D E 35 35 missense 0.99 probably damaging 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782770567 1q21.2 1 148808608A> T null D V 35 35 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,gnomAD rs587728009 1q21.2 1 148808611C> G null A G 36 36 2.0E-4 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782091091 1q21.2 1 148808613A> G null T A 37 37 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781949296 1q21.2 1 148808614C> G null T R 37 37 missense 0.03 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782112944 1q21.2 1 148808617G> T null R L 38 38 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782112944 1q21.2 1 148808617G> A null R Q 38 38 missense 0.12 benign 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782403324 1q21.2 1 148808619A> G null T A 39 39 missense 0.001 benign 0.6 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782195956 1q21.2 1 148808620C> G null T S 39 39 missense 0.049 benign 0.07 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782571153 1q21.2 1 148808622C> T null P S 40 40 missense 0.162 benign 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782571153 1q21.2 1 148808622C> A null P T 40 40 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782364286 1q21.2 1 148808626A> T null Q L 41 41 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782364286 1q21.2 1 148808626A> C null Q P 41 41 missense 0.007 benign 0.07 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782209569 1q21.2 1 148808629C> T null S F 42 42 missense 0.089 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349565 1q21.2 1 148808628T> C null S P 42 42 missense 0.007 benign 0.26 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782209569 1q21.2 1 148808629C> A null S Y 42 42 missense 0.7 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782503451 1q21.2 1 148808632C> T null P L 43 43 missense 0.012 benign 0.15 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782661381 1q21.2 1 148808631C> T null P S 43 43 missense 0.021 benign 0.36 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587677912 1q21.2 1 148808635G> T null R L 44 44 3.99E-4 missense 0.012 benign 1.0 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587677912 1q21.2 1 148808635G> A null R Q 44 44 3.99E-4 missense 0.153 benign 0.24 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782670368 1q21.2 1 148808638A> C null Q P 45 45 missense 0.612 possibly damaging 0.06 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782725665 1q21.2 1 148808641C> T null T I 46 46 missense 0.117 benign 0.08 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782725665 1q21.2 1 148808641C> A null T N 46 46 missense 0.063 benign 0.15 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782461766 1q21.2 1 148808640A> T null T S 46 46 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349598 1q21.2 1 148808644C> G null P R 47 47 missense 0.596 possibly damaging 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782121516 1q21.2 1 148808643C> T null P S 47 47 missense 0.031 benign 0.28 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349602 1q21.2 1 148808647G> A null S N 48 48 missense 0.192 benign 0.16 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782142499 1q21.2 1 148808650G> T null R L 49 49 missense 0.026 benign 0.05 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782142499 1q21.2 1 148808650G> A null R Q 49 49 missense 0.009 benign 0.17 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349607 1q21.2 1 148808649C> T null R W 49 49 missense 0.757 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781932451 1q21.2 1 148808652G> A null E K 50 50 missense 0.989 probably damaging 0.04 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782697768 1q21.2 1 148808655A> T null R * 51 51 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782697768 1q21.2 1 148808655A> G null R G 51 51 missense 0.018 benign 0.11 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349614 1q21.2 1 148808657A> C null R S 51 51 missense 0.383 benign 0.06 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs148346797 1q21.2 1 148808659G> T null R L 52 52 missense 0.012 benign 0.08 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs148346797 1q21.2 1 148808659G> A null R Q 52 52 missense 0.699 possibly damaging 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782104286 1q21.2 1 148808658C> T null R W 52 52 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782036641 1q21.2 1 148808662G> A null R H 53 53 missense 0.003 benign 0.27 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782036641 1q21.2 1 148808662G> T null R L 53 53 missense 0.063 benign 0.35 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782245247 1q21.2 1 148808661C> A null R S 53 53 missense 0.005 benign 0.31 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349629 1q21.2 1 148808665C> T null P L 54 54 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349629 1q21.2 1 148808665C> A null P Q 54 54 missense 0.784 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349629 1q21.2 1 148808665C> G null P R 54 54 missense 0.726 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782425721 1q21.2 1 148808664C> T null P S 54 54 missense 0.044 benign 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782575484 1q21.2 1 148808667G> A null E K 55 55 missense 0.012 benign 0.14 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349642 1q21.2 1 148808671C> T null P L 56 56 missense 0.007 benign 0.22 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349639 1q21.2 1 148808670C> T null P S 56 56 missense 0.013 benign 0.69 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782625209 1q21.2 1 148808674C> G null A G 57 57 missense 0.281 benign 0.09 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349647 1q21.2 1 148808673G> A null A T 57 57 missense 0.012 benign 0.1 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782625209 1q21.2 1 148808674C> T null A V 57 57 missense 0.062 benign 0.17 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs202110430 1q21.2 1 148808676G> A null G R 58 58 missense 0.011 benign 0.44 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349669 1q21.2 1 148808679A> T null S C 59 59 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs78401481 1q21.2 1 148808680G> T null S I 59 59 missense 0.669 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782447816 1q21.2 1 148808681C> G null S R 59 59 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs78401481 1q21.2 1 148808680G> C null S T 59 59 missense 0.97 probably damaging 0.06 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782734984 1q21.2 1 148808683G> A null W * 60 60 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs2762779 1q21.2 1 148808684G> A null W * 60 60 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782734984 1q21.2 1 148808683G> C null W S 60 60 missense 0.999 probably damaging 0.15 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782152368 1q21.2 1 148808692C> A null A E 63 63 missense 0.461 possibly damaging 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782152368 1q21.2 1 148808692C> G null A G 63 63 missense 0.815 possibly damaging 0.05 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781985811 1q21.2 1 148808691G> A null A T 63 63 missense 0.621 possibly damaging 0.09 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782152368 1q21.2 1 148808692C> T null A V 63 63 missense 0.046 benign 0.23 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349712 1q21.2 1 148808694G> A null A T 64 64 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781944152 1q21.2 1 148808695C> T null A V 64 64 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349735 1q21.2 1 148808699G> C null E D 65 65 missense 0.062 benign 0.22 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349727 1q21.2 1 148808698A> G null E G 65 65 missense 0.216 benign 0.49 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782211172 1q21.2 1 148808697G> A null E K 65 65 missense 0.281 benign 0.18 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782368667 1q21.2 1 148808705A> T null E D 67 67 missense 0.995 probably damaging 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782291491 1q21.2 1 148808707A> C null E A 68 68 missense 0.88 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349746 1q21.2 1 148808706G> A null E K 68 68 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782656374 1q21.2 1 148808712G> C null A P 70 70 missense 0.834 possibly damaging 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782656374 1q21.2 1 148808712G> T null A S 70 70 missense 0.35 benign 0.04 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349762 1q21.2 1 148808713C> T null A V 70 70 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782465697 1q21.2 1 148808716C> T null A V 71 71 missense 0.557 possibly damaging 0.14 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs368966434 1q21.2 1 148808718G> A null A T 72 72 missense 0.113 benign 0.33 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782623685 1q21.2 1 148808719C> T null A V 72 72 missense 0.006 benign 1.0 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781878786 1q21.2 1 148808722C> G null A G 73 73 missense 0.044 benign 0.36 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782466750 1q21.2 1 148808721G> C null A P 73 73 missense 0.798 possibly damaging 0.23 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782466750 1q21.2 1 148808721G> T null A S 73 73 missense 0.044 benign 0.29 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781878786 1q21.2 1 148808722C> T null A V 73 73 missense 0.557 possibly damaging 0.1 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349790 1q21.2 1 148808727C> T null P S 75 75 missense 0.309 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349790 1q21.2 1 148808727C> A null P T 75 75 missense 0.076 benign 0.05 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs763538826 1q21.2 1 148808732G> A null W * 76 76 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349796 1q21.2 1 148808731G> T null W L 76 76 missense 0.391 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349821 1q21.2 1 148808735G> A null M I 77 77 missense 0.024 benign 0.46 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349816 1q21.2 1 148808734T> A null M K 77 77 missense 0.003 benign 0.16 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553349812 1q21.2 1 148808733A> T null M L 77 77 missense 0.003 benign 0.35 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782554581 1q21.2 1 148808736A> G null R G 78 78 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781898835 1q21.2 1 148808737G> A null R K 78 78 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC rs781920755 1q21.2 1 148863252A> T null D V 79 79 missense 0.532 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782064388 1q21.2 1 148863251G> T null D Y 79 79 missense 0.091 benign 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782084987 1q21.2 1 148863254T> G null Y D 80 80 missense 0.983 probably damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782084987 1q21.2 1 148863254T> C null Y H 80 80 missense 0.988 probably damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782380896 1q21.2 1 148863261C> G null A G 82 82 missense 0.012 benign 0.4 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553403137 1q21.2 1 148863260G> T null A S 82 82 missense 0.102 benign 0.16 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782380896 1q21.2 1 148863261C> T null A V 82 82 missense 0.062 benign 0.06 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782303806 1q21.2 1 148863263G> T null E * 83 83 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782299040 1q21.2 1 148863265G> T null E D 83 83 missense 0.019 benign 0.11 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs11538401 1q21.2 1 148863267A> G null D G 84 84 missense 0.124 benign 0.05 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782217877 1q21.2 1 148863266G> A null D N 84 84 missense 0.637 possibly damaging 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs11538401 1q21.2 1 148863267A> T null D V 84 84 missense 0.798 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781852314 1q21.2 1 148863271T> G null D E 85 85 missense 0.005 benign 0.29 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782507720 1q21.2 1 148863269G> A null D N 85 85 missense 0.145 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1269690706 1q21.2 1 148863280G> A null M I 88 88 missense 0.012 benign 0.08 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1269690706 1q21.2 1 148863280G> T null M I 88 88 missense 0.012 benign 0.08 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1446695577 1q21.2 1 148863278A> T null M L 88 88 missense 0.038 benign 0.05 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1446695577 1q21.2 1 148863278A> G null M V 88 88 missense 0.038 benign 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553403206 1q21.2 1 148863282T> C null V A 89 89 missense 0.449 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553403198 1q21.2 1 148863281G> A null V I 89 89 missense 0.092 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782534734 1q21.2 1 148863285C> T null P L 90 90 missense 0.844 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782681435 1q21.2 1 148863284C> T null P S 90 90 missense 0.259 benign 0.05 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782681435 1q21.2 1 148863284C> A null P T 90 90 missense 0.793 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781806093 1q21.2 1 148863289A> C null R S 91 91 missense 0.721 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,TOPMed,gnomAD rs1553403256 1q21.2 1 148863291C> T null T M 92 92 missense 0.922 probably damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553403289 1q21.2 1 148863297A> C null H P 94 94 missense 0.554 possibly damaging 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553403283 1q21.2 1 148863296C> T null H Y 94 94 missense 0.632 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553403305 1q21.2 1 148863299A> C null T P 95 95 missense 0.168 benign 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781824406 1q21.2 1 148863300C> G null T R 95 95 missense 0.129 benign 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782043527 1q21.2 1 148863302G> T null A S 96 96 missense 0.031 benign 0.14 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782043527 1q21.2 1 148863302G> A null A T 96 96 missense 0.019 benign 0.21 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553403328 1q21.2 1 148863303C> T null A V 96 96 missense 0.092 benign 0.05 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553403338 1q21.2 1 148863305G> C null A P 97 97 missense 0.938 probably damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410225 1q21.2 1 148868471C> T null A V 97 97 missense 0.75 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410242 1q21.2 1 148868476C> G null L V 99 99 missense 0.885 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553410247 1q21.2 1 148868481T> A null S R 100 100 missense 0.062 benign 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782610174 1q21.2 1 148868485A> G null T A 102 102 missense 0.007 benign 0.16 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782610174 1q21.2 1 148868485A> C null T P 102 102 missense 0.02 benign 0.09 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410271 1q21.2 1 148868489A> T null K I 103 103 missense 0.325 benign 0.08 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782511340 1q21.2 1 148868490A> C null K N 103 103 missense 0.449 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781867361 1q21.2 1 148868492A> T null D V 104 104 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782665479 1q21.2 1 148868494C> T null R * 105 105 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782665479 1q21.2 1 148868494C> G null R G 105 105 missense 0.845 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs201246900 1q21.2 1 148868495G> T null R L 105 105 missense 0.67 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs201246900 1q21.2 1 148868495G> A null R Q 105 105 missense 0.449 possibly damaging 0.12 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782071940 1q21.2 1 148868498G> A null G D 106 106 missense 0.285 benign 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782710467 1q21.2 1 148868497G> A null G S 106 106 missense 0.754 possibly damaging 0.08 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782776429 1q21.2 1 148868501C> T null P L 107 107 missense 0.822 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782776429 1q21.2 1 148868501C> G null P R 107 107 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782034613 1q21.2 1 148868507T> C null V A 109 109 missense 0.001 benign 0.23 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782149581 1q21.2 1 148868506G> A null V M 109 109 missense 0.062 benign 0.23 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782070371 1q21.2 1 148868509C> T null Q * 110 110 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782070371 1q21.2 1 148868509C> A null Q K 110 110 missense 0.102 benign 0.09 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781957864 1q21.2 1 148868510A> G null Q R 110 110 missense 0.454 possibly damaging 0.07 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782361406 1q21.2 1 148868513C> T null S L 111 111 missense 0.637 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782657460 1q21.2 1 148868515C> T null Q * 112 112 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782657460 1q21.2 1 148868515C> G null Q E 112 112 missense 0.144 benign 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782657460 1q21.2 1 148868515C> A null Q K 112 112 missense 0.204 benign 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410408 1q21.2 1 148868516A> G null Q R 112 112 missense 0.263 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410418 1q21.2 1 148868520C> G null I M 113 113 missense 0.318 benign 0.05 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782562914 1q21.2 1 148868519T> C null I T 113 113 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782286417 1q21.2 1 148868518A> G null I V 113 113 missense 0.0 benign 0.42 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781817131 1q21.2 1 148868523G> A null W * 114 114 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781817131 1q21.2 1 148868523G> C null W C 114 114 missense 0.884 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410422 1q21.2 1 148868521T> C null W R 114 114 missense 0.647 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782643215 1q21.2 1 148868524A> G null R G 115 115 missense 0.557 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782536255 1q21.2 1 148868525G> C null R T 115 115 missense 0.637 possibly damaging 0.06 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781890069 1q21.2 1 148868528G> A null S N 116 116 missense 0.02 benign 0.14 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782820211 1q21.2 1 148868534A> T null E V 118 118 missense 0.939 probably damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782435197 1q21.2 1 148868536A> G null K E 119 119 missense 0.296 benign 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782730122 1q21.2 1 148868539G> T null V F 120 120 missense 0.003 benign 0.68 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782730122 1q21.2 1 148868539G> A null V I 120 120 missense 0.003 benign 0.76 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782730122 1q21.2 1 148868539G> C null V L 120 120 missense 0.0 benign 0.74 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781987544 1q21.2 1 148868543C> T null P L 121 121 missense 0.062 benign 0.06 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781987544 1q21.2 1 148868543C> A null P Q 121 121 missense 0.813 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410484 1q21.2 1 148868542C> T null P S 121 121 missense 0.103 benign 0.17 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782141387 1q21.2 1 148868547T> A null F L 122 122 missense 0.005 benign 0.53 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs139957143 1q21.2 1 148868545T> C null F L 122 122 missense 0.005 benign 0.53 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410516 1q21.2 1 148868548G> C null V L 123 123 missense 0.013 benign 1.0 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782026480 1q21.2 1 148868551C> T null Q * 124 124 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782301353 1q21.2 1 148868552A> G null Q R 124 124 missense 0.261 benign 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782186790 1q21.2 1 148868554A> G null T A 125 125 missense 0.042 benign 0.1 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs146126167 1q21.2 1 148868558A> G null Y C 126 126 missense 0.003 benign 0.27 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782675111 1q21.2 1 148868561C> G null S C 127 127 missense 0.837 possibly damaging 0.18 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782675111 1q21.2 1 148868561C> T null S F 127 127 missense 0.014 benign 0.7 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782181775 1q21.2 1 148868566A> G null R G 129 129 missense 0.468 possibly damaging 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782580672 1q21.2 1 148868567G> A null R K 129 129 missense 0.055 benign 0.02 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781841102 1q21.2 1 148868577G> C null E D 132 132 missense 0.166 benign 0.06 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782762734 1q21.2 1 148868579A> C null K T 133 133 missense 0.296 benign 0.06 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782043998 1q21.2 1 148868581C> G null P A 134 134 missense 0.012 benign 0.55 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410570 1q21.2 1 148868582C> G null P R 134 134 missense 0.652 possibly damaging 0.03 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782043998 1q21.2 1 148868581C> T null P S 134 134 missense 0.062 benign 0.41 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782043998 1q21.2 1 148868581C> A null P T 134 134 missense 0.296 benign 0.07 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782715068 1q21.2 1 148868584C> G null P A 135 135 missense 0.695 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782715068 1q21.2 1 148868584C> T null P S 135 135 missense 0.387 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782715068 1q21.2 1 148868584C> A null P T 135 135 missense 0.842 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410580 1q21.2 1 148868587C> A null Q K 136 136 missense 0.329 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782094004 1q21.2 1 148868588A> G null Q R 136 136 missense 0.427 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782009687 1q21.2 1 148868590G> A null V I 137 137 missense 0.535 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410586 1q21.2 1 148868593C> G null Q E 138 138 missense 0.486 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782300260 1q21.2 1 148868595G> T null Q H 138 138 missense 0.269 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs145680254 1q21.2 1 148868597C> A null T N 139 139 missense 0.473 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs145680254 1q21.2 1 148868597C> G null T S 139 139 missense 0.009 benign 0.73 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782328754 1q21.2 1 148868599C> T null Q * 140 140 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782497253 1q21.2 1 148868601G> C null Q H 140 140 missense 0.024 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782209897 1q21.2 1 148868600A> G null Q R 140 140 missense 0.204 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553410617 1q21.2 1 148868603C> G null A G 141 141 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782263808 1q21.2 1 148868602G> A null A T 141 141 missense 0.011 benign 0.45 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs77741369 1q21.2 1 148868605C> A null L I 142 142 missense 0.43 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782572428 1q21.2 1 148868608C> T null R * 143 143 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782572428 1q21.2 1 148868608C> G null R G 143 143 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781830528 1q21.2 1 148868609G> C null R P 143 143 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781830528 1q21.2 1 148868609G> A null R Q 143 143 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782157954 1q21.2 1 148868612A> G null D G 144 144 missense 0.266 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782771089 1q21.2 1 148868611G> C null D H 144 144 missense 0.761 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782073377 1q21.2 1 148868619G> T null E D 146 146 missense 0.085 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782356616 1q21.2 1 148868621A> T null K M 147 147 missense 0.871 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782113241 1q21.2 1 148868622G> T null K N 147 147 missense 0.554 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782356616 1q21.2 1 148868621A> G null K R 147 147 missense 0.061 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434646 1q21.2 1 148889784C> A null H N 148 148 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782394437 1q21.2 1 148889786C> G null H Q 148 148 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434650 1q21.2 1 148889785A> G null H R 148 148 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434660 1q21.2 1 148889787C> T null L F 149 149 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781813671 1q21.2 1 148889792T> A null N K 150 150 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,dbSNP,gnomAD rs3010980 1q21.2 1 148889791A> G null N S 150 150 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781849164 1q21.2 1 148889795C> A null D E 151 151 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782495226 1q21.2 1 148889794A> G null D G 151 151 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782604455 1q21.2 1 148889793G> C null D H 151 151 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782791954 1q21.2 1 148889797T> G null L R 152 152 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781901155 1q21.2 1 148889803A> G null K R 154 154 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs782693578 1q21.2 1 148889805G> C null E Q 155 155 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782375188 1q21.2 1 148889811T> C null F L 157 157 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1423772079 1q21.2 1 148889814A> G null S G 158 158 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146993928 1q21.2 1 148889815G> T null S I 158 158 0.002796 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146993928 1q21.2 1 148889815G> C null S T 158 158 0.002796 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782588292 cosmic curated [Cosmic]: endometrium cosmic_study:419 1q21.2 1 148889826C> T null R C 162 162 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782588292 1q21.2 1 148889826C> G null R G 162 162 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,dbSNP,gnomAD rs1664022 1q21.2 1 148889827G> T null R L 162 162 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782629845 1q21.2 1 148889830T> C null I T 163 163 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1181234569 1q21.2 1 148889829A> G null I V 163 163 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553434791 1q21.2 1 148889833A> G null Y C 164 164 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434782 1q21.2 1 148889832T> C null Y H 164 164 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782666502 1q21.2 1 148889837C> A null F L 165 165 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434801 1q21.2 1 148889839T> C null L P 166 166 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434801 1q21.2 1 148889839T> G null L R 166 166 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782726846 1q21.2 1 148889844G> A null E K 168 168 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782167031 1q21.2 1 148889847C> T null R C 169 169 missense 0.93 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782167031 1q21.2 1 148889847C> G null R G 169 169 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs372978033 cosmic curated [Cosmic]: large_intestine, [Cosmic]: ovary cosmic_study:375,cosmic_study:585 1q21.2 1 148889848G> A null R H 169 169 missense 0.886 possibly damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs372978033 1q21.2 1 148889848G> C null R P 169 169 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782167031 1q21.2 1 148889847C> A null R S 169 169 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434835 1q21.2 1 148889852G> A null M I 170 170 missense 0.155 benign 0.48 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434837 1q21.2 1 148889853C> T null Q * 171 171 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434852 1q21.2 1 148889856C> T null Q * 172 172 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1553434868 1q21.2 1 148889858G> T null Q H 172 172 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434860 1q21.2 1 148889857A> G null Q R 172 172 missense 0.877 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs781975815 1q21.2 1 148889860A> C null K T 173 173 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782261798 1q21.2 1 148889862T> C null Y H 174 174 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782433948 1q21.2 1 148889865G> T null E * 175 175 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782433948 1q21.2 1 148889865G> C null E Q 175 175 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1205771578 1q21.2 1 148889868G> A null A T 176 176 missense 0.462 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434924 1q21.2 1 148889871A> G null S G 177 177 missense 0.045 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs142489262 1q21.2 1 148889874C> G null R G 178 178 missense 0.618 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs373829403 1q21.2 1 148889875G> A null R Q 178 178 2.0E-4 missense 0.053 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs142489262 1q21.2 1 148889874C> T null R W 178 178 missense 0.535 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434937 1q21.2 1 148889878A> G null E G 179 179 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782656639 1q21.2 1 148889877G> A null E K 179 179 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434946 1q21.2 1 148889880G> A null D N 180 180 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434960 1q21.2 1 148889885C> G null I M 181 181 missense 0.715 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434954 1q21.2 1 148889884T> A null I N 181 181 missense 0.837 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434952 1q21.2 1 148889883A> G null I V 181 181 missense 0.005 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434967 1q21.2 1 148889887A> G null Y C 182 182 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553434967 1q21.2 1 148889887A> T null Y F 182 182 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782541088 1q21.2 1 148889886T> C null Y H 182 182 missense 0.618 possibly damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,gnomAD rs587668983 1q21.2 1 148889889A> C null K Q 183 183 2.0E-4 missense 0.71 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781911929 1q21.2 1 148889890A> G null K R 183 183 missense 0.03 benign 0.87 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781824168 1q21.2 1 148889893G> T null R L 184 184 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781824168 1q21.2 1 148889893G> C null R P 184 184 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781824168 cosmic curated [Cosmic]: lung cosmic_study:417 1q21.2 1 148889893G> A null R Q 184 184 missense 0.244 benign 0.01 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782698180 1q21.2 1 148889892C> T null R W 184 184 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782296371 1q21.2 1 148929200A> C null I L 186 186 missense 0.936 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs573724 1q21.2 1 148929201T> G null I S 186 186 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,dbSNP,gnomAD rs573724 pubmed:11374908,pubmed:15489334 1q21.2 1 148929201T> C null I T 186 186 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782296371 1q21.2 1 148929200A> G null I V 186 186 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782455024 1q21.2 1 148929212G> A null V I 190 190 missense 0.386 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs61743332 1q21.2 1 148929221G> C null E Q 193 193 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587756266 1q21.2 1 148929229G> T null L F 195 195 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587756266 1q21.2 1 148929229G> C null L F 195 195 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782157794 1q21.2 1 148929230A> G null K E 196 196 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781918262 1q21.2 1 148929233C> T null R * 197 197 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781918262 1q21.2 1 148929233C> G null R G 197 197 missense 0.758 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146152526 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148929234G> A null R Q 197 197 3.99E-4 missense 0.027 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs200292567 1q21.2 1 148929236G> T null E * 198 198 stop gained 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed rs142987550 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148929246A> G null D G 201 201 missense 0.018 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553467836 1q21.2 1 148929254C> T null Q * 204 204 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553467841 1q21.2 1 148929256G> T null Q H 204 204 missense 0.535 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553467841 1q21.2 1 148929256G> C null Q H 204 204 missense 0.535 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587643669 1q21.2 1 148929259T> A null H Q 205 205 3.99E-4 missense 0.043 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,TOPMed,gnomAD rs146353419 1q21.2 1 148929257C> T null H Y 205 205 missense 0.306 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,TOPMed,gnomAD rs587748192 1q21.2 1 148929272T> C null W R 210 210 2.0E-4 missense 0.069 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs4649711 1q21.2 1 148931802C> G null A G 211 211 missense 0.034 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs4649711 1q21.2 1 148931802C> T null A V 211 211 missense 0.037 benign 0.52 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782737597 1q21.2 1 148931808T> C null V A 213 213 missense 0.005 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782737597 1q21.2 1 148931808T> G null V G 213 213 missense 0.02 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1241692828 1q21.2 1 148931807G> A null V M 213 213 missense 0.583 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1453257231 1q21.2 1 148931821C> G null N K 217 217 missense 0.197 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470149 1q21.2 1 148931822A> G null S G 218 218 missense 0.012 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1342085903 1q21.2 1 148931823G> T null S I 218 218 missense 0.209 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1342085903 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148931823G> A null S N 218 218 missense 0.012 benign 0.41 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1413652004 1q21.2 1 148931831G> C null E Q 221 221 missense 0.511 possibly damaging 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1401771463 1q21.2 1 148931840C> T null L F 224 224 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1159469015 1q21.2 1 148931843C> T null R * 225 225 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1378527661 1q21.2 1 148931844G> A null R Q 225 225 missense 0.095 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1178606676 1q21.2 1 148931846C> T null R C 226 226 missense 0.924 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1473428185 1q21.2 1 148931847G> A null R H 226 226 missense 0.046 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470190 1q21.2 1 148931850A> C null Q P 227 227 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1185883434 1q21.2 1 148931855G> A null E K 229 229 missense 0.759 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1262077548 1q21.2 1 148931860G> T null E D 230 230 missense 0.382 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1218329911 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.2 1 148931861C> T null R * 231 231 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1218329911 1q21.2 1 148931861C> G null R G 231 231 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1246023184 1q21.2 1 148931872G> T null E D 234 234 missense 0.315 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1350932766 1q21.2 1 148931870G> A null E K 234 234 missense 0.474 possibly damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1350932766 1q21.2 1 148931870G> C null E Q 234 234 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782001852 1q21.2 1 148931874C> T null T M 235 235 missense 0.527 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,gnomAD rs587680616 1q21.2 1 148931879C> G null H D 237 237 3.99E-4 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1447098879 1q21.2 1 148931880A> G null H R 237 237 missense 0.238 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470240 1q21.2 1 148931898A> G null E G 243 243 missense 0.299 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1402047186 1q21.2 1 148931902T> A null N K 244 244 missense 0.06 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs605611 1q21.2 1 148931908C> G null I M 246 246 missense 0.46 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1158143054 1q21.2 1 148931909C> G null Q E 247 247 missense 0.255 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470263 1q21.2 1 148931910A> G null Q R 247 247 missense 0.059 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470268 1q21.2 1 148931913T> C null L P 248 248 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs3961613 1q21.2 1 148931920G> T null Q H 250 250 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs3961613 1q21.2 1 148931920G> C null Q H 250 250 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470288 1q21.2 1 148931923G> C null E D 251 251 missense 0.874 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1472710191 1q21.2 1 148931921G> A null E K 251 251 missense 0.299 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470286 1q21.2 1 148931922A> T null E V 251 251 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782392668 1q21.2 1 148932113G> T null E * 252 252 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1256338430 1q21.2 1 148932116T> G null S A 253 253 missense 0.009 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470488 1q21.2 1 148932121G> C null R S 254 254 missense 0.255 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782284983 1q21.2 1 148932120G> C null R T 254 254 missense 0.735 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470499 1q21.2 1 148932126C> A null A E 256 256 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470497 1q21.2 1 148932125G> C null A P 256 256 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470502 1q21.2 1 148932130G> T null K N 257 257 missense 0.167 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470502 1q21.2 1 148932130G> C null K N 257 257 missense 0.167 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470511 1q21.2 1 148932133T> A null N K 258 258 missense 0.013 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782679409 1q21.2 1 148932132A> G null N S 258 258 missense 0.011 benign 0.7 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782306236 1q21.2 1 148932134G> A null E K 259 259 missense 0.379 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470518 1q21.2 1 148932137G> A null A T 260 260 missense 0.798 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs375914249 1q21.2 1 148932141C> T null A V 261 261 missense 0.031 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781852780 1q21.2 1 148932144G> A null R Q 262 262 missense 0.022 benign 0.37 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs150616778 1q21.2 1 148932143C> T null R W 262 262 missense 0.049 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782657307 1q21.2 1 148932146A> C null M L 263 263 missense 0.209 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470559 1q21.2 1 148932150C> A null A E 264 264 missense 0.073 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470553 1q21.2 1 148932149G> T null A S 264 264 missense 0.084 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470568 1q21.2 1 148932152G> A null A T 265 265 missense 0.084 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1445169816 1q21.2 1 148932158G> C null V L 267 267 missense 0.078 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470589 1q21.2 1 148932162A> T null E V 268 268 missense 0.791 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782534962 1q21.2 1 148932165C> T null A V 269 269 missense 0.041 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470616 1q21.2 1 148932167G> T null E * 270 270 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782086519 1q21.2 1 148932175G> C null E D 272 272 missense 0.438 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs782716218 1q21.2 1 148932173G> A null E K 272 272 missense 0.06 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781840190 1q21.2 1 148932177G> A null C Y 273 273 missense 0.596 possibly damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782135262 1q21.2 1 148932181C> A null N K 274 274 missense 0.211 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1419838713 1q21.2 1 148932180A> G null N S 274 274 missense 0.067 benign 0.44 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1439044300 1q21.2 1 148932182C> G null L V 275 275 missense 0.062 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs868910697 1q21.2 1 148932185G> T null E * 276 276 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1482116993 1q21.2 1 148932187G> C null E D 276 276 missense 0.084 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs868910697 1q21.2 1 148932185G> C null E Q 276 276 missense 0.868 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs371252645 1q21.2 1 148932188C> T null L F 277 277 missense 0.779 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782439461 1q21.2 1 148932189T> C null L P 277 277 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782337234 1q21.2 1 148932201T> C null L P 281 281 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782337234 1q21.2 1 148932201T> A null L Q 281 281 missense 0.755 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470709 1q21.2 1 148932206G> A null G R 283 283 missense 0.087 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782641525 1q21.2 1 148932209G> A null V I 284 284 missense 0.005 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470728 1q21.2 1 148932213C> T null T I 285 285 missense 0.168 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1316857287 1q21.2 1 148932215A> G null K E 286 286 missense 0.012 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470741 1q21.2 1 148932222G> A null W * 288 288 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470746 1q21.2 1 148932223G> C null W C 288 288 missense 0.0 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470751 1q21.2 1 148932224G> T null E * 289 289 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470772 1q21.2 1 148932229T> A null D E 290 290 missense 0.0 benign 0.74 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470765 1q21.2 1 148932227G> A null D N 290 290 missense 0.005 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782459722 1q21.2 1 148932231T> C null V A 291 291 missense 0.0 benign 0.7 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782459722 1q21.2 1 148932231T> A null V E 291 291 missense 0.003 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs148545794 1q21.2 1 148932234C> A null P Q 292 292 missense 0.005 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs148545794 1q21.2 1 148932234C> G null P R 292 292 missense 0.003 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470799 1q21.2 1 148932233C> A null P T 292 292 missense 0.005 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1311946247 1q21.2 1 148932237G> A null G E 293 293 missense 0.097 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781877437 1q21.2 1 148932241C> G null D E 294 294 missense 0.013 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1400196567 1q21.2 1 148932239G> C null D H 294 294 missense 0.031 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782813356 1q21.2 1 148932242C> T null Q * 295 295 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782813356 1q21.2 1 148932242C> G null Q E 295 295 missense 0.041 benign 0.46 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782813356 1q21.2 1 148932242C> A null Q K 295 295 missense 0.041 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782166549 1q21.2 1 148932245G> A null V I 296 296 missense 0.005 benign 0.36 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470845 1q21.2 1 148932250G> T null K N 297 297 missense 0.005 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1362020232 1q21.2 1 148932251C> T null P S 298 298 missense 0.02 benign 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1362020232 1q21.2 1 148932251C> A null P T 298 298 missense 0.287 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782127548 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148932255A> G null D G 299 299 missense 0.005 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782373842 1q21.2 1 148932254G> C null D H 299 299 missense 0.035 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782373842 1q21.2 1 148932254G> A null D N 299 299 missense 0.005 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782373842 1q21.2 1 148932254G> T null D Y 299 299 missense 0.105 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782430094 1q21.2 1 148932257C> G null Q E 300 300 missense 0.062 benign 0.78 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470910 1q21.2 1 148932259A> C null Q H 300 300 missense 0.003 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782361686 1q21.2 1 148932262C> G null Y * 301 301 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC rs781956752 1q21.2 1 148932261A> G null Y C 301 301 missense 0.115 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs367808124 1q21.2 1 148932260T> C null Y H 301 301 missense 0.03 benign 0.43 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1194061965 1q21.2 1 148932263A> G null T A 302 302 missense 0.005 benign 0.82 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470933 1q21.2 1 148932264C> A null T N 302 302 missense 0.007 benign 0.51 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470937 1q21.2 1 148932268G> T null E D 303 303 missense 0.007 benign 0.42 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,dbSNP,gnomAD rs2590120 1q21.2 1 148932269G> A null A T 304 304 missense 0.024 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470945 1q21.2 1 148932270C> T null A V 304 304 missense 0.46 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782543539 1q21.2 1 148932276C> T null A V 306 306 missense 0.162 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782564010 cosmic curated [Cosmic]: lung cosmic_study:417 1q21.2 1 148932280G> T null Q H 307 307 missense 0.031 benign 0.05 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782564010 cosmic curated [Cosmic]: lung cosmic_study:417 1q21.2 1 148932280G> C null Q H 307 307 missense 0.031 benign 0.05 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553470961 1q21.2 1 148932279A> G null Q R 307 307 missense 0.097 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,dbSNP,gnomAD rs3121544 1q21.2 1 148932282G> A null R K 308 308 missense 0.014 benign 0.59 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1219580854 1q21.2 1 148932286C> G null D E 309 309 missense 0.894 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1219580854 1q21.2 1 148932286C> A null D E 309 309 missense 0.894 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1320338174 1q21.2 1 148932284G> A null D N 309 309 missense 0.422 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1320338174 1q21.2 1 148932284G> T null D Y 309 309 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553476060 1q21.2 1 148937749G> A null R K 311 311 missense 0.012 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782552748 1q21.2 1 148937750A> T null R S 311 311 missense 0.287 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781792344 1q21.2 1 148937752T> A null I N 312 312 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781792344 1q21.2 1 148937752T> C null I T 312 312 missense 0.882 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553476078 1q21.2 1 148937755A> G null E G 313 313 missense 0.543 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553476085 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 1q21.2 1 148937757G> T null E * 314 314 missense 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782471057 1q21.2 1 148937763A> C null N H 316 316 missense 0.007 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1242675560 1q21.2 1 148937768G> C null Q H 317 317 missense 0.982 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1460105683 1q21.2 1 148937767A> G null Q R 317 317 missense 0.535 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553476098 1q21.2 1 148937773T> C null L P 319 319 missense 0.426 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782123170 1q21.2 1 148937784G> T null E * 323 323 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782123170 1q21.2 1 148937784G> C null E Q 323 323 missense 0.358 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77741848 1q21.2 1 148937788G> A null R K 324 324 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553476112 1q21.2 1 148937789G> T null R S 324 324 missense 0.015 benign 0.57 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782808182 1q21.2 1 148937791T> C null L P 325 325 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782093395 1q21.2 1 148937794T> C null V A 326 326 missense 0.018 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782093395 1q21.2 1 148937794T> G null V G 326 326 missense 0.586 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781933823 1q21.2 1 148937793G> A null V I 326 326 missense 0.055 benign 0.41 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781933823 1q21.2 1 148937793G> T null V L 326 326 missense 0.031 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782293913 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.2 1 148937796G> T null E * 327 327 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782293913 1q21.2 1 148937796G> A null E K 327 327 missense 0.211 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782293913 1q21.2 1 148937796G> C null E Q 327 327 missense 0.033 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782333176 1q21.2 1 148937799C> A null Q K 328 328 missense 0.458 possibly damaging 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553476169 1q21.2 1 148937806C> T null S F 330 330 missense 0.069 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs144942272 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 1q21.2 1 148937809G> A null R Q 331 331 missense 0.0 benign 0.81 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782626933 1q21.2 1 148937808C> T null R W 331 331 missense 0.663 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553476182 1q21.2 1 148937812A> G null E G 332 332 missense 0.159 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553476186 1q21.2 1 148937814A> G null K E 333 333 missense 0.646 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781863180 1q21.2 1 148937817C> G null Q E 334 334 missense 0.042 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782539883 1q21.2 1 148937820C> T null Q * 335 335 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781786563 1q21.2 1 148937822A> C null Q H 335 335 missense 0.003 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782712907 1q21.2 1 148937823C> A null L M 336 336 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782080506 1q21.2 1 148937827T> A null L Q 337 337 missense 0.236 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs371734991 1q21.2 1 148937829C> T null H Y 338 338 missense 0.212 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553476249 1q21.2 1 148937833T> C null L P 339 339 missense 0.88 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553476253 1q21.2 1 148937841G> A null E K 342 342 missense 0.113 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782064744 1q21.2 1 148937844C> G null P A 343 343 missense 0.039 benign 0.68 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782064744 1q21.2 1 148937844C> A null P T 343 343 missense 0.532 possibly damaging 0.5 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781955582 1q21.2 1 148937847A> G null T A 344 344 missense 0.003 benign 0.83 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781955582 1q21.2 1 148937847A> C null T P 344 344 missense 0.01 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782364458 cosmic curated [Cosmic]: prostate pubmed:22610119,cosmic_study:392 1q21.2 1 148937852C> A null S R 345 345 missense 0.589 possibly damaging 0.41 tolerated 1 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs140223371 1q21.2 1 148937854T> A null M K 346 346 missense 0.429 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782254384 1q21.2 1 148937853A> T null M L 346 346 missense 0.007 benign 0.49 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs140223371 1q21.2 1 148937854T> C null M T 346 346 missense 0.015 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782282300 1q21.2 1 148937857A> C null E A 347 347 missense 0.258 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782282300 1q21.2 1 148937857A> G null E G 347 347 missense 0.015 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782396520 1q21.2 1 148937856G> A null E K 347 347 missense 0.078 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782282300 1q21.2 1 148937857A> T null E V 347 347 missense 0.506 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782556178 1q21.2 1 148937859G> A null V M 348 348 missense 0.237 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782460236 1q21.2 1 148937862C> T null Q * 349 349 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553476311 1q21.2 1 148937863A> C null Q P 349 349 missense 0.967 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508127 1q21.2 1 148960654C> G null P A 350 350 missense 0.224 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782671285 1q21.2 1 148960655C> A null P H 350 350 missense 0.083 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1405605262 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 1q21.2 1 148960659G> T null M I 351 351 missense 0.072 benign 0.15 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782548052 1q21.2 1 148960658T> C null M T 351 351 missense 0.006 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559003997 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 1q21.2 1 148960657A> G null M V 351 351 missense 0.003 benign 0.56 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781793165 1q21.2 1 148960661C> T null T I 352 352 missense 0.116 benign 0.5 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508202 1q21.2 1 148960663G> T null E * 353 353 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508202 cosmic curated [Cosmic]: breast cosmic_study:414 1q21.2 1 148960663G> A null E K 353 353 missense 0.014 benign 0.18 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782708125 1q21.2 1 148960667A> G null E G 354 354 missense 0.006 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs868951574 1q21.2 1 148960666G> A null E K 354 354 missense 0.006 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs868951574 1q21.2 1 148960666G> C null E Q 354 354 missense 0.051 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781850133 1q21.2 1 148960671G> T null L F 355 355 missense 0.135 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508274 1q21.2 1 148960675A> C null K Q 357 357 missense 0.04 benign 0.62 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782022203 1q21.2 1 148960681C> A null Q K 359 359 missense 0.104 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508297 1q21.2 1 148960682A> T null Q L 359 359 missense 0.093 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508320 1q21.2 1 148960684A> G null K E 360 360 missense 0.125 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782056613 1q21.2 1 148960687C> A null L M 361 361 missense 0.111 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs373522113 1q21.2 1 148960697A> T null H L 364 364 5.99E-4 missense 0.012 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs373522113 1q21.2 1 148960697A> C null H P 364 364 5.99E-4 missense 0.0 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs373522113 cosmic curated [Cosmic]: lung cosmic_study:417 1q21.2 1 148960697A> G null H R 364 364 5.99E-4 missense 0.009 benign 0.31 tolerated 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508445 1q21.2 1 148960703C> T null T I 366 366 missense 0.511 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508461 1q21.2 1 148960705A> G null T A 367 367 missense 0.01 benign 0.61 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782406007 1q21.2 1 148960709T> C null I T 368 368 missense 0.003 benign 0.58 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs146514590 1q21.2 1 148960712C> T null T I 369 369 missense 0.038 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508490 1q21.2 1 148960714C> G null Q E 370 370 missense 0.018 benign 0.37 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782467345 1q21.2 1 148960715A> C null Q P 370 370 missense 0.01 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782467345 cosmic curated [Cosmic]: bone pubmed:23770606,cosmic_study:486 1q21.2 1 148960715A> G null Q R 370 370 missense 0.031 benign 0.17 tolerated 1 A0A075B749 PDE4DIP Myomegalin ESP rs145547245 1q21.2 1 148960717C> T null Q * 371 371 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782209701 1q21.2 1 148960718A> C null Q P 371 371 missense 0.024 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782625843 1q21.2 1 148960721C> G null S C 372 372 missense 0.006 benign 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587774931 1q21.2 1 148960723G> C null V L 373 373 2.0E-4 missense 0.136 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508550 1q21.2 1 148960727C> A null S Y 374 374 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508569 cosmic curated [Cosmic]: lung cosmic_study:417 1q21.2 1 148960729G> A null D N 375 375 missense 0.113 benign 0.06 tolerated 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508578 1q21.2 1 148960730A> T null D V 375 375 missense 0.649 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508598 1q21.2 1 148960735C> T null H Y 377 377 missense 0.023 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC rs371812177 1q21.2 1 148960747C> T null L F 381 381 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508626 1q21.2 1 148960748T> G null L R 381 381 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508637 1q21.2 1 148960754A> C null E A 383 383 missense 0.078 benign 0.46 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587660236 1q21.2 1 148960757A> C null K T 384 384 2.0E-4 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508672 1q21.2 1 148960761C> G null I M 385 385 missense 0.506 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508660 1q21.2 1 148960759A> G null I V 385 385 missense 0.049 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs143406342 1q21.2 1 148960763A> G null Q R 386 386 missense 0.526 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1481110526 1q21.2 1 148960766A> G null Q R 387 387 missense 0.506 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782091526 1q21.2 1 148960768A> G null T A 388 388 missense 0.009 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782091526 1q21.2 1 148960768A> T null T S 388 388 missense 0.049 benign 0.42 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1221204569 1q21.2 1 148960774G> T null A S 390 390 missense 0.582 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1221204569 1q21.2 1 148960774G> A null A T 390 390 missense 0.204 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782791713 1q21.2 1 148960778C> T null T I 391 391 missense 0.072 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782791713 1q21.2 1 148960778C> G null T S 391 391 missense 0.024 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782147083 1q21.2 1 148960782C> G null N K 392 392 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508786 1q21.2 1 148960781A> G null N S 392 392 missense 0.401 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553508811 1q21.2 1 148960784A> T null K M 393 393 missense 0.71 possibly damaging 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141066291 1q21.2 1 148961837A> T null I F 394 394 0.002196 missense 0.431 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1422202876 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 1q21.2 1 148961840C> A null L I 395 395 missense 0.965 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782762598 1q21.2 1 148961844A> C null Q P 396 396 missense 0.848 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782762598 1q21.2 1 148961844A> G null Q R 396 396 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781893616 1q21.2 1 148961847A> G null E G 397 397 missense 0.676 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782808418 1q21.2 1 148961849A> C null K Q 398 398 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1197764497 1q21.2 1 148961853T> C null L P 399 399 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1197764497 cosmic curated [Cosmic]: liver cosmic_study:323 1q21.2 1 148961853T> G null L R 399 399 missense 0.984 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553510576 1q21.2 1 148961856A> G null N S 400 400 missense 0.039 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553510591 1q21.2 1 148961858G> T null E * 401 401 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553510625 1q21.2 1 148961863G> A null M I 402 402 missense 0.136 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1251708912 1q21.2 1 148961865G> A null S N 403 403 missense 0.034 benign 0.61 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782110693 1q21.2 1 148961869T> G null Y * 404 404 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782110693 1q21.2 1 148961869T> A null Y * 404 404 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587751928 1q21.2 1 148961868A> G null Y C 404 404 2.0E-4 missense 0.003 benign 0.61 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587751928 1q21.2 1 148961868A> T null Y F 404 404 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1201003599 1q21.2 1 148961870G> C null E Q 405 405 missense 0.912 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553510784 1q21.2 1 148961877A> G null K R 407 407 missense 0.059 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1258040579 1q21.2 1 148961880G> A null C Y 408 408 missense 0.0 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553510870 1q21.2 1 148961883C> A null A D 409 409 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145568299 1q21.2 1 148961882G> T null A S 409 409 missense 0.762 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145568299 1q21.2 1 148961882G> A null A T 409 409 missense 0.701 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553510870 1q21.2 1 148961883C> T null A V 409 409 missense 0.015 benign 0.71 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782576328 1q21.2 1 148961890G> C null E D 411 411 missense 0.582 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs1359300 1q21.2 1 148961892C> T null S L 412 412 missense 0.015 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587760445 1q21.2 1 148961895C> T null S F 413 413 7.99E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781872007 1q21.2 1 148961903C> G null Q E 416 416 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781872007 1q21.2 1 148961903C> A null Q K 416 416 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782672293 1q21.2 1 148961908T> G null D E 417 417 missense 0.121 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553510983 1q21.2 1 148961906G> A null D N 417 417 missense 0.645 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553511037 1q21.2 1 148961913C> T null T I 419 419 missense 0.17 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782570070 1q21.2 1 148961915A> T null I F 420 420 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782570070 1q21.2 1 148961915A> C null I L 420 420 missense 0.29 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,TOPMed,gnomAD rs145122432 1q21.2 1 148961916T> C null I T 420 420 missense 0.676 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587651736 1q21.2 1 148961918C> G null Q E 421 421 2.0E-4 missense 0.278 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782732657 1q21.2 1 148961920G> T null Q H 421 421 missense 0.503 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs781851986 1q21.2 1 148961927A> G null K E 424 424 missense 0.048 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1444387015 1q21.2 1 148961928A> G null K R 424 424 missense 0.015 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1399430698 1q21.2 1 148961934C> T null T I 426 426 missense 0.056 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs370911424 1q21.2 1 148961937T> A null L Q 427 427 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,gnomAD rs587604549 1q21.2 1 148961940A> G null K R 428 428 2.0E-4 missense 0.526 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782035316 1q21.2 1 148961944C> A null S R 429 429 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553511238 1q21.2 1 148961948G> A null E K 431 431 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112264801 1q21.2 1 148961951C> T null R C 432 432 missense 0.006 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112264801 1q21.2 1 148961951C> G null R G 432 432 missense 0.091 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2455994 1q21.2 1 148961952G> A null R H 432 432 missense 0.062 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553511285 1q21.2 1 148961955A> C null E A 433 433 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553511771 1q21.2 1 148962197C> T null T I 434 434 missense 0.023 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553511771 1q21.2 1 148962197C> A null T N 434 434 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553511784 1q21.2 1 148962199G> A null E K 435 435 missense 0.278 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782182096 1q21.2 1 148962202G> A null E K 436 436 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782182096 1q21.2 1 148962202G> C null E Q 436 436 missense 0.905 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs140441274 1q21.2 1 148962207G> C null L F 437 437 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782758002 1q21.2 1 148962212A> G null Q R 439 439 missense 0.014 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781887679 1q21.2 1 148962219T> G null I M 441 441 missense 0.936 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1283579704 1q21.2 1 148962217A> G null I V 441 441 missense 0.182 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1430786921 1q21.2 1 148962220G> A null E K 442 442 missense 0.676 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553511892 1q21.2 1 148962224G> A null G D 443 443 missense 0.88 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs147451175 1q21.2 1 148962223G> C null G R 443 443 0.003794 missense 0.76 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs147451175 1q21.2 1 148962223G> A null G S 443 443 0.003794 missense 0.29 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs368056556 1q21.2 1 148962226C> T null Q * 444 444 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553511922 1q21.2 1 148962229A> C null N H 445 445 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553511929 1q21.2 1 148962235A> G null T A 447 447 missense 0.125 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC rs374110518 1q21.2 1 148962236C> T null T I 447 447 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs139387473 1q21.2 1 148962239T> C null M T 448 448 missense 0.584 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782394829 1q21.2 1 148962238A> G null M V 448 448 missense 0.224 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1418730994 1q21.2 1 148962242C> A null A E 449 449 missense 0.845 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs142136172 1q21.2 1 148962241G> T null A S 449 449 missense 0.445 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs142136172 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148962241G> A null A T 449 449 missense 0.095 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782327627 1q21.2 1 148962244A> C null K Q 450 450 missense 0.428 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1360217096 1q21.2 1 148962245A> G null K R 450 450 missense 0.816 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1165925828 1q21.2 1 148962247C> T null L F 451 451 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782617784 1q21.2 1 148962251G> A null R Q 452 452 missense 0.062 benign 0.49 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512046 1q21.2 1 148962255A> T null E D 453 453 missense 0.148 benign 0.65 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782377815 1q21.2 1 148962254A> G null E G 453 453 missense 0.432 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512067 1q21.2 1 148962258G> A null M I 454 454 missense 0.056 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782261458 1q21.2 1 148962256A> G null M V 454 454 missense 0.16 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782674884 1q21.2 1 148962259C> A null L M 455 455 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782546000 1q21.2 1 148962260T> C null L P 455 455 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782585141 1q21.2 1 148962264C> G null H Q 456 456 missense 0.676 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512114 1q21.2 1 148962266A> G null Q R 457 457 missense 0.055 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782477904 1q21.2 1 148962268A> G null S G 458 458 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782772878 1q21.2 1 148962273G> C null Q H 459 459 missense 0.492 possibly damaging 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781845142 1q21.2 1 148962272A> C null Q P 459 459 missense 0.643 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782145055 1q21.2 1 148962275T> C null L P 460 460 missense 0.824 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782062435 1q21.2 1 148962282A> C null Q H 462 462 missense 0.188 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512164 1q21.2 1 148962280C> A null Q K 462 462 missense 0.861 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs200252029 1q21.2 1 148962281A> T null Q L 462 462 2.0E-4 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs200252029 1q21.2 1 148962281A> G null Q R 462 462 2.0E-4 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781951149 1q21.2 1 148962283C> T null L F 463 463 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1292848720 1q21.2 1 148962284T> G null L R 463 463 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782357389 1q21.2 1 148962288C> G null H Q 464 464 missense 0.014 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512554 1q21.2 1 148962429G> T null S I 465 465 missense 0.018 benign 0.53 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512567 1q21.2 1 148962430C> A null S R 465 465 missense 0.218 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781892781 1q21.2 1 148962432C> G null S * 466 466 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781892781 1q21.2 1 148962432C> T null S L 466 466 missense 0.038 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782440537 cosmic curated [Cosmic]: kidney cosmic_study:416 1q21.2 1 148962435A> G null E G 467 467 missense 0.23 benign 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782440537 1q21.2 1 148962435A> T null E V 467 467 missense 0.409 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781812262 1q21.2 1 148962438G> A null G D 468 468 missense 0.631 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782735188 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 1q21.2 1 148962440A> G null T A 469 469 missense 0.003 benign 0.49 tolerated 1 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1256144481 1q21.2 1 148962441C> T null T I 469 469 missense 0.006 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782105448 1q21.2 1 148962444C> G null S C 470 470 missense 0.859 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,NCI-TCGA,gnomAD rs782802168 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148962446C> G null P A 471 471 missense 0.014 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782152571 1q21.2 1 148962447C> T null P L 471 471 missense 0.405 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782802168 1q21.2 1 148962446C> T null P S 471 471 missense 0.024 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs142828741 1q21.2 1 148962449G> C null A P 472 472 missense 0.056 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587737189 1q21.2 1 148962452C> T null Q * 473 473 2.0E-4 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782213831 1q21.2 1 148962455C> T null Q * 474 474 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370548673 1q21.2 1 148962459A> T null Q L 475 475 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370548673 1q21.2 1 148962459A> G null Q R 475 475 2.0E-4 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782658922 1q21.2 1 148962470C> T null L F 479 479 missense 0.369 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512753 1q21.2 1 148962471T> C null L P 479 479 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782564234 1q21.2 1 148962473G> A null D N 480 480 missense 0.673 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782186057 1q21.2 1 148962481G> C null Q H 482 482 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782186057 1q21.2 1 148962481G> T null Q H 482 482 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1448055030 1q21.2 1 148962480A> G null Q R 482 482 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782588840 1q21.2 1 148962483G> A null S N 483 483 missense 0.015 benign 0.92 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782476304 1q21.2 1 148962492T> G null F C 486 486 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512800 1q21.2 1 148962493C> A null F L 486 486 missense 0.383 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512816 1q21.2 1 148962494T> C null C R 487 487 missense 0.258 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512826 1q21.2 1 148962496C> G null C W 487 487 missense 0.827 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781847739 1q21.2 1 148962497A> G null S G 488 488 missense 0.437 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782783750 1q21.2 1 148962502A> T null Q H 489 489 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs377555246 1q21.2 1 148962503C> T null L F 490 490 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587601579 1q21.2 1 148962510T> C null I T 492 492 2.0E-4 missense 0.04 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782683737 1q21.2 1 148962512C> T null Q * 493 493 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512872 1q21.2 1 148962518C> T null L F 495 495 missense 0.988 probably damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782063977 1q21.2 1 148962521C> T null Q * 496 496 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587747098 1q21.2 1 148962524A> G null R G 497 497 2.0E-4 missense 0.089 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113187064 1q21.2 1 148962525G> C null R T 497 497 missense 0.244 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553512922 1q21.2 1 148962528T> G null V G 498 498 missense 0.006 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782003208 1q21.2 1 148962533C> T null R * 500 500 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs201338400 1q21.2 1 148962534G> A null R Q 500 500 2.0E-4 missense 0.236 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1178437249 1q21.2 1 148962536C> T null Q * 501 501 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs879999549 1q21.2 1 148962537A> C null Q P 501 501 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781922907 1q21.2 1 148962544G> T null E D 503 503 missense 0.069 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs148905056 1q21.2 1 148962545C> T null R C 504 504 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782624473 cosmic curated [Cosmic]: pancreas cosmic_study:382 1q21.2 1 148962546G> A null R H 504 504 missense 0.041 benign 0.37 tolerated 1 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs148905056 1q21.2 1 148962545C> A null R S 504 504 missense 0.581 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782666615 1q21.2 1 148962555C> T null A V 507 507 missense 0.083 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513077 1q21.2 1 148962557G> A null D N 508 508 missense 0.232 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513088 1q21.2 1 148962561C> G null A G 509 509 missense 0.089 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs146047382 1q21.2 1 148962565A> T null K N 510 510 missense 0.111 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782441758 1q21.2 1 148962564A> G null K R 510 510 missense 0.009 benign 0.46 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782486195 1q21.2 1 148962566C> G null Q E 511 511 missense 0.074 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513122 1q21.2 1 148962567A> C null Q P 511 511 missense 0.079 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513122 1q21.2 1 148962567A> G null Q R 511 511 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513149 1q21.2 1 148962570G> T null C F 512 512 missense 0.031 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs145150366 1q21.2 1 148962569T> C null C R 512 512 missense 0.006 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs145150366 1q21.2 1 148962569T> A null C S 512 512 missense 0.014 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782778819 1q21.2 1 148962577A> T null Q H 514 514 missense 0.345 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587609805 1q21.2 1 148962580T> A null F L 515 515 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1483257049 1q21.2 1 148962582T> C null V A 516 516 missense 0.003 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513191 1q21.2 1 148962586G> T null E D 517 517 missense 0.718 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781905661 1q21.2 1 148962584G> A null E K 517 517 missense 0.6 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513203 1q21.2 1 148962588C> G null A G 518 518 missense 0.532 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782691496 1q21.2 1 148962591C> T null A V 519 519 missense 0.027 benign 0.87 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513222 1q21.2 1 148962594C> G null A G 520 520 missense 0.015 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782365250 1q21.2 1 148962600A> G null E G 522 522 missense 0.526 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781954632 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:21798893,cosmic_study:349 1q21.2 1 148962599G> A null E K 522 522 missense 0.179 benign 0.01 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513258 1q21.2 1 148962603G> A null S N 523 523 missense 0.156 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513273 1q21.2 1 148962604T> G null S R 523 523 missense 0.003 benign 0.7 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587602816 1q21.2 1 148962608C> T null Q * 525 525 2.0E-4 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587602816 1q21.2 1 148962608C> G null Q E 525 525 2.0E-4 missense 0.345 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1324366 1q21.2 1 148962618A> C null E A 528 528 missense 0.829 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs201567215 1q21.2 1 148962619G> T null E D 528 528 3.99E-4 missense 0.156 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1324366 1q21.2 1 148962618A> T null E V 528 528 missense 0.621 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513352 1q21.2 1 148962620G> C null A P 529 529 missense 0.683 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513352 1q21.2 1 148962620G> T null A S 529 529 missense 0.263 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513368 1q21.2 1 148962621C> T null A V 529 529 missense 0.287 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513391 1q21.2 1 148962627G> A null W * 531 531 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513397 1q21.2 1 148962628G> C null W C 531 531 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782334317 1q21.2 1 148962629A> G null K E 532 532 missense 0.526 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs369538574 1q21.2 1 148962633A> G null H R 533 533 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513416 1q21.2 1 148962632C> T null H Y 533 533 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782279295 1q21.2 1 148962636A> C null N T 534 534 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782684306 1q21.2 1 148962640G> T null Q H 535 535 missense 0.658 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553513467 1q21.2 1 148962639A> G null Q R 535 535 missense 0.189 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs369073788 1q21.2 1 148965490C> T null R * 538 538 stop gained 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs369073788 1q21.2 1 148965490C> G null R G 538 538 missense 0.911 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs143828311 cosmic curated [Cosmic]: large_intestine cosmic_study:376 1q21.2 1 148965491G> A null R Q 538 538 missense 0.275 benign 0.03 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782784380 1q21.2 1 148965493A> G null K E 539 539 missense 0.258 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553517206 1q21.2 1 148965494A> G null K R 539 539 missense 0.038 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782161576 1q21.2 1 148965497C> A null A D 540 540 missense 0.781 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782161576 1q21.2 1 148965497C> T null A V 540 540 missense 0.07 benign 0.67 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587628745 1q21.2 1 148965500T> C null L S 541 541 2.0E-4 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1251647455 1q21.2 1 148965502C> G null Q E 542 542 missense 0.673 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs200455395 1q21.2 1 148965503A> T null Q L 542 542 missense 0.673 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs200455395 1q21.2 1 148965503A> C null Q P 542 542 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781977465 1q21.2 1 148965507G> C null Q H 543 543 missense 0.083 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782263515 1q21.2 1 148965511C> G null Q E 545 545 missense 0.381 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782682640 1q21.2 1 148965514G> A null E K 546 546 missense 0.102 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782185761 1q21.2 1 148965517G> C null E Q 547 547 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,dbSNP,gnomAD rs1061308 1q21.2 1 148965518A> T null E V 547 547 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs374903451 1q21.2 1 148965522G> T null L F 548 548 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs142856190 1q21.2 1 148965521T> C null L S 548 548 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs142856190 1q21.2 1 148965521T> G null L W 548 548 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553517368 1q21.2 1 148965527A> G null N S 550 550 missense 0.005 benign 0.83 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781900128 1q21.2 1 148965530A> G null K R 551 551 missense 0.278 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781900128 1q21.2 1 148965530A> C null K T 551 551 missense 0.747 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553517382 1q21.2 1 148965533G> A null S N 552 552 missense 0.009 benign 0.57 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782062697 1q21.2 1 148965540G> T null Q H 554 554 missense 0.17 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781824690 1q21.2 1 148965541C> T null L F 555 555 missense 0.755 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781824690 1q21.2 1 148965541C> G null L V 555 555 missense 0.794 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs371722785 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148965544C> T null R C 556 556 missense 0.006 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs151030520 1q21.2 1 148965545G> A null R H 556 556 missense 0.003 benign 0.65 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs151030520 1q21.2 1 148965545G> T null R L 556 556 missense 0.011 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs151030520 1q21.2 1 148965545G> C null R P 556 556 missense 0.581 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1385862961 1q21.2 1 148965548C> A null A D 557 557 missense 0.049 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1321090315 1q21.2 1 148965547G> T null A S 557 557 missense 0.175 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782167263 1q21.2 1 148965552G> A null W * 558 558 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781927189 1q21.2 1 148965557C> T null A V 560 560 missense 0.015 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782223770 1q21.2 1 148965566A> G null Y C 563 563 missense 0.003 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782334727 1q21.2 1 148965565T> C null Y H 563 563 missense 0.01 benign 0.5 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553517454 1q21.2 1 148965569A> G null N S 564 564 missense 0.005 benign 0.87 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1396829385 1q21.2 1 148965571G> C null E Q 565 565 missense 0.854 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782386130 1q21.2 1 148965575T> C null I T 566 566 missense 0.113 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1308985320 1q21.2 1 148965574A> G null I V 566 566 missense 0.023 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782276593 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.2 1 148965577C> T null R * 567 567 stop gained 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs375112759 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148965578G> A null R Q 567 567 missense 0.028 benign 0.76 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782430927 1q21.2 1 148965580A> G null T A 568 568 missense 0.007 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553517481 1q21.2 1 148965581C> G null T S 568 568 missense 0.026 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782498944 1q21.2 1 148965584A> C null Q P 569 569 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782498944 1q21.2 1 148965584A> G null Q R 569 569 missense 0.057 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782783024 1q21.2 1 148965591A> C null Q H 571 571 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781857869 1q21.2 1 148965590A> C null Q P 571 571 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1168527182 1q21.2 1 148965593A> T null N I 572 572 missense 0.117 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782155184 1q21.2 1 148965595A> G null I V 573 573 missense 0.167 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781911160 1q21.2 1 148965603C> G null H Q 575 575 missense 0.026 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782071933 1q21.2 1 148965604C> A null L I 576 576 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs370258706 1q21.2 1 148965608A> G null N S 577 577 missense 0.026 benign 0.67 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553517578 1q21.2 1 148965611A> G null H R 578 578 missense 0.05 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782128987 1q21.2 1 148965610C> T null H Y 578 578 missense 0.01 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782417131 1q21.2 1 148965619A> G null S G 581 581 missense 0.258 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782180208 1q21.2 1 148965620G> A null S N 581 581 missense 0.015 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781932772 1q21.2 1 148965621T> A null S R 581 581 missense 0.015 benign 0.41 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553517633 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q21.2 1 148965627G> T null K N 583 583 missense 0.969 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553517652 1q21.2 1 148965630G> C null E D 584 584 missense 0.191 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782646928 1q21.2 1 148965629A> G null E G 584 584 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587728667 1q21.2 1 148965628G> A null E K 584 584 2.0E-4 missense 0.676 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553517656 1q21.2 1 148965636G> T null L F 586 586 missense 0.735 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553517671 1q21.2 1 148965637C> G null L V 587 587 missense 0.215 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553517676 1q21.2 1 148965640C> A null Q K 588 588 missense 0.645 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1409369189 1q21.2 1 148966544A> G null E G 589 589 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559050901 1q21.2 1 148966547T> C null F S 590 590 missense 0.007 benign 0.43 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782450556 1q21.2 1 148966546T> G null F V 590 590 missense 0.031 benign 0.51 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782763585 1q21.2 1 148966549C> G null R G 591 591 missense 0.257 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782100220 1q21.2 1 148966550G> A null R Q 591 591 missense 0.011 benign 0.47 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782763585 cosmic curated [Cosmic]: breast cosmic_study:414 1q21.2 1 148966549C> T null R W 591 591 missense 0.356 benign 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782724328 1q21.2 1 148966556T> C null L P 593 593 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1184099378 1q21.2 1 148966555C> G null L V 593 593 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518515 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148966558C> A null L I 594 594 missense 0.929 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782028585 1q21.2 1 148966564T> C null Y H 596 596 missense 0.056 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782126379 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 1q21.2 1 148966567C> T null R * 597 597 missense 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782126379 1q21.2 1 148966567C> G null R G 597 597 missense 0.047 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781979903 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148966568G> A null R Q 597 597 missense 0.013 benign 0.84 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782351602 1q21.2 1 148966571A> G null D G 598 598 missense 0.001 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518543 1q21.2 1 148966570G> C null D H 598 598 missense 0.684 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518556 1q21.2 1 148966576T> G null S A 600 600 missense 0.015 benign 0.8 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518564 1q21.2 1 148966577C> T null S L 600 600 missense 0.007 benign 0.72 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518578 1q21.2 1 148966581C> A null D E 601 601 missense 0.023 benign 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1209495115 1q21.2 1 148966580A> G null D G 601 601 missense 0.023 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587649168 1q21.2 1 148966579G> C null D H 601 601 2.0E-4 missense 0.909 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782437903 1q21.2 1 148966585A> G null T A 603 603 missense 0.268 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1266504555 1q21.2 1 148966589T> C null L P 604 604 missense 0.003 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782275826 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148966593A> C null E D 605 605 missense 0.023 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782504071 1q21.2 1 148966599T> A null N K 607 607 missense 0.081 benign 0.57 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782652830 1q21.2 1 148966598A> G null N S 607 607 missense 0.017 benign 0.65 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781841769 1q21.2 1 148966600G> T null E * 608 608 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782601495 1q21.2 1 148966602A> T null E D 608 608 missense 0.048 benign 0.75 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518620 1q21.2 1 148966605G> C null M I 609 609 missense 0.01 benign 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782444244 1q21.2 1 148966604T> C null M T 609 609 missense 0.023 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518602 1q21.2 1 148966603A> G null M V 609 609 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518624 1q21.2 1 148966610T> C null L P 611 611 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518637 1q21.2 1 148966613A> C null E A 612 612 missense 0.856 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1322116944 1q21.2 1 148966612G> C null E Q 612 612 missense 0.856 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518646 1q21.2 1 148966615A> G null K E 613 613 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782797067 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148966621C> T null R C 615 615 missense 0.461 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs373171738 1q21.2 1 148966622G> A null R H 615 615 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs373171738 1q21.2 1 148966622G> T null R L 615 615 missense 0.818 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782754181 1q21.2 1 148966624C> G null Q E 616 616 missense 0.805 possibly damaging 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587751810 1q21.2 1 148966627C> T null R * 617 617 5.99E-4 stop gained 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs369907346 1q21.2 1 148966628G> T null R L 617 617 missense 0.787 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs369907346 1q21.2 1 148966628G> A null R Q 617 617 missense 0.534 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518692 1q21.2 1 148966630A> C null I L 618 618 missense 0.213 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1319490501 1q21.2 1 148966632A> G null I M 618 618 missense 0.432 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518692 1q21.2 1 148966630A> G null I V 618 618 missense 0.062 benign 0.32 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782021641 1q21.2 1 148966633C> A null H N 619 619 missense 0.014 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,dbSNP,gnomAD rs1698681 1q21.2 1 148966634A> G null H R 619 619 missense 0.007 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782021641 1q21.2 1 148966633C> T null H Y 619 619 missense 0.26 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782618245 1q21.2 1 148966642G> A null A T 622 622 missense 0.05 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782342021 1q21.2 1 148966646T> G null V G 623 623 missense 0.031 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518718 1q21.2 1 148966645G> A null V I 623 623 missense 0.006 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518732 1q21.2 1 148966649C> A null A D 624 624 missense 0.486 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782195779 1q21.2 1 148966648G> T null A S 624 624 missense 0.771 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782558353 1q21.2 1 148966652T> C null L P 625 625 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782558353 1q21.2 1 148966652T> G null L R 625 625 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553518768 1q21.2 1 148966656G> T null E D 626 626 missense 0.788 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587714051 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148966840G> A null R Q 627 627 2.0E-4 missense 0.226 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs199998182 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q21.2 1 148966839C> T null R W 627 627 9.98E-4 missense 0.994 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519116 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148966843C> A null A D 628 628 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1332424852 1q21.2 1 148966846T> G null I R 629 629 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781870165 1q21.2 1 148966845A> G null I V 629 629 missense 0.118 benign 0.67 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1298748277 1q21.2 1 148966850T> A null D E 630 630 missense 0.592 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782757248 1q21.2 1 148966851G> A null E K 631 631 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519161 1q21.2 1 148966859C> A null F L 633 633 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782093987 1q21.2 1 148966857T> C null F L 633 633 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519167 1q21.2 1 148966860T> C null S P 634 634 missense 0.766 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1345258813 1q21.2 1 148966866C> A null L I 636 636 missense 0.857 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1309088543 cosmic curated [Cosmic]: breast pubmed:22608084,cosmic_study:385 1q21.2 1 148966867T> C null L P 636 636 missense 0.993 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782696364 1q21.2 1 148966869G> T null E * 637 637 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782696364 1q21.2 1 148966869G> A null E K 637 637 missense 0.592 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782165504 1q21.2 1 148966872G> A null E K 638 638 missense 0.784 possibly damaging 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782018840 1q21.2 1 148966877A> C null K N 639 639 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150716992 1q21.2 1 148966880A> C null E D 640 640 0.01438 missense 0.373 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559055333 1q21.2 1 148966879A> G null E G 640 640 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1369296229 1q21.2 1 148966878G> C null E Q 640 640 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs868940194 1q21.2 1 148966882A> G null K R 641 641 missense 0.038 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519212 1q21.2 1 148966884G> C null E Q 642 642 missense 0.993 probably damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781973763 1q21.2 1 148966887C> A null L M 643 643 missense 0.658 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519229 1q21.2 1 148966888T> C null L P 643 643 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782345886 1q21.2 1 148966890C> T null R C 644 644 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782578310 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148966891G> A null R H 644 644 missense 0.061 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782578310 1q21.2 1 148966891G> T null R L 644 644 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519241 cosmic curated [Cosmic]: lung cosmic_study:418 1q21.2 1 148966895G> T null Q H 645 645 missense 0.238 benign 0.01 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782412603 1q21.2 1 148966896C> T null L F 646 646 missense 0.842 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782412603 1q21.2 1 148966896C> G null L V 646 646 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782271941 cosmic curated [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23525077,cosmic_study:464 1q21.2 1 148966899C> T null R C 647 647 missense 0.017 benign 0.08 tolerated 1 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs374769269 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148966900G> A null R H 647 647 missense 0.003 benign 0.95 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141130081 1q21.2 1 148966908G> A null V M 650 650 missense 0.225 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519283 1q21.2 1 148966911A> G null R G 651 651 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519293 1q21.2 1 148966912G> C null R T 651 651 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP rs371534743 1q21.2 1 148966914G> A null E K 652 652 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs782596848 1q21.2 1 148966917C> T null R * 653 653 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782442895 cosmic curated [Cosmic]: oesophagus pubmed:22877736,cosmic_study:448 1q21.2 1 148966918G> A null R Q 653 653 missense 0.674 possibly damaging 0.11 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782811740 1q21.2 1 148966922T> A null D E 654 654 missense 0.114 benign 0.61 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs148545675 1q21.2 1 148966920G> C null D H 654 654 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782132287 1q21.2 1 148966924A> G null H R 655 655 missense 0.007 benign 0.73 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519347 1q21.2 1 148966933A> T null E V 658 658 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519360 1q21.2 1 148966939T> C null L P 660 660 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519360 1q21.2 1 148966939T> G null L R 660 660 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs147238704 1q21.2 1 148966938C> G null L V 660 660 missense 0.592 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs199736417 1q21.2 1 148966941C> T null R C 661 661 2.0E-4 missense 0.398 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782310936 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver cosmic_study:322,cosmic_study:376 1q21.2 1 148966942G> A null R H 661 661 missense 0.534 possibly damaging 0.08 tolerated 1 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs138171812 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148966944G> A null D N 662 662 missense 0.009 benign 0.66 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782391538 1q21.2 1 148966948T> C null V A 663 663 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782188493 1q21.2 1 148966954C> T null S F 665 665 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782188493 1q21.2 1 148966954C> A null S Y 665 665 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1328771517 1q21.2 1 148966957C> G null S C 666 666 missense 0.129 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519423 1q21.2 1 148966956T> C null S P 666 666 missense 0.891 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1397186301 1q21.2 1 148966959A> C null N H 667 667 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782540952 1q21.2 1 148966961T> A null N K 667 667 missense 0.977 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782692227 1q21.2 1 148966960A> G null N S 667 667 missense 0.716 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781877081 1q21.2 1 148966963A> T null E V 668 668 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519450 1q21.2 1 148966965G> T null A S 669 669 missense 0.729 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519450 1q21.2 1 148966965G> A null A T 669 669 missense 0.087 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553519457 1q21.2 1 148966968A> G null T A 670 670 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782628314 1q21.2 1 148966971A> T null M L 671 671 missense 0.07 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781822194 1q21.2 1 148966972T> G null M R 671 671 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781822194 1q21.2 1 148966972T> C null M T 671 671 missense 0.613 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782628314 1q21.2 1 148966971A> G null M V 671 671 missense 0.16 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782715967 1q21.2 1 148966975A> C null Q P 672 672 missense 0.88 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782715967 1q21.2 1 148966975A> G null Q R 672 672 missense 0.528 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs1747930 1q21.2 1 148967727G> C null S T 673 673 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs369236732 1q21.2 1 148967730T> C null M T 674 674 missense 0.768 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782342375 1q21.2 1 148967729A> G null M V 674 674 missense 0.445 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1185648570 1q21.2 1 148967734G> C null E D 675 675 missense 0.742 possibly damaging 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781920552 1q21.2 1 148967732G> A null E K 675 675 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520106 1q21.2 1 148967735A> C null S R 676 676 missense 0.893 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782432098 1q21.2 1 148967738C> T null L F 677 677 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782432098 1q21.2 1 148967738C> A null L I 677 677 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782432098 1q21.2 1 148967738C> G null L V 677 677 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1220148072 1q21.2 1 148967747G> A null A T 680 680 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587647474 1q21.2 1 148967748C> T null A V 680 680 2.0E-4 missense 0.771 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782227394 1q21.2 1 148967752A> C null K N 681 681 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1274700520 1q21.2 1 148967753G> A null G S 682 682 missense 0.313 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs146424005 1q21.2 1 148967759G> T null E * 684 684 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1229017652 1q21.2 1 148967762G> A null V M 685 685 missense 0.445 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520176 1q21.2 1 148967769A> C null Q P 687 687 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520181 1q21.2 1 148967771T> G null L V 688 688 missense 0.435 benign 0.48 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782538090 1q21.2 1 148967775C> G null S C 689 689 missense 0.445 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782538090 1q21.2 1 148967775C> T null S F 689 689 missense 0.857 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781864136 1q21.2 1 148967777A> G null T A 690 690 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1294428760 1q21.2 1 148967780A> G null T A 691 691 missense 0.231 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782753255 1q21.2 1 148967781C> T null T I 691 691 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520213 1q21.2 1 148967783T> C null C R 692 692 missense 0.924 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520228 1q21.2 1 148967786C> A null Q K 693 693 missense 0.213 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781810217 1q21.2 1 148967790A> G null N S 694 694 missense 0.936 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1346537032 1q21.2 1 148967792C> T null L F 695 695 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1305382446 1q21.2 1 148967793T> A null L H 695 695 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520264 1q21.2 1 148967797G> C null Q H 696 696 missense 0.658 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs376326304 1q21.2 1 148967800G> A null W * 697 697 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1698683 1q21.2 1 148967799G> A null W * 697 697 stop gained 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553520297 1q21.2 1 148967811A> C null E A 701 701 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520294 1q21.2 1 148967810G> A null E K 701 701 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782114316 1q21.2 1 148967817A> C null E A 703 703 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782385304 1q21.2 1 148967816G> C null E Q 703 703 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520315 1q21.2 1 148967820C> T null T I 704 704 missense 0.398 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112651497 1q21.2 1 148967831C> T null R C 708 708 5.99E-4 missense 0.006 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141467460 1q21.2 1 148967832G> A null R H 708 708 7.99E-4 missense 0.003 benign 0.91 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141467460 1q21.2 1 148967832G> T null R L 708 708 7.99E-4 missense 0.011 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782265358 1q21.2 1 148967838A> C null Q P 710 710 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520334 1q21.2 1 148967842G> C null K N 711 711 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782647249 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148967843G> A null E K 712 712 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520351 1q21.2 1 148967846C> T null Q * 713 713 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520356 1q21.2 1 148967848A> C null Q H 713 713 missense 0.645 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781829318 1q21.2 1 148967850A> G null E G 714 714 missense 0.65 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520359 1q21.2 1 148967849G> A null E K 714 714 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1434046858 1q21.2 1 148967856T> C null I T 716 716 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs150042542 1q21.2 1 148967858A> G null I V 717 717 missense 0.054 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520386 1q21.2 1 148967864C> G null Q E 719 719 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146793096 1q21.2 1 148967874C> T null T M 722 722 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782759097 1q21.2 1 148967883A> G null H R 725 725 missense 0.278 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782078259 1q21.2 1 148967886A> G null D G 726 726 missense 0.703 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782078259 1q21.2 1 148967886A> T null D V 726 726 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1252461526 1q21.2 1 148967885G> T null D Y 726 726 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520429 1q21.2 1 148967888A> G null R G 727 727 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1196976893 1q21.2 1 148967889G> C null R T 727 727 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587771964 cosmic curated [Cosmic]: breast pubmed:22722201,cosmic_study:385 1q21.2 1 148967892A> G null N S 728 728 2.0E-4 missense 0.461 possibly damaging 0.18 tolerated 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520449 1q21.2 1 148967895A> G null K R 729 729 missense 0.856 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520459 1q21.2 1 148967899A> C null E D 730 730 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553520455 1q21.2 1 148967897G> A null E K 730 730 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782373222 1q21.2 1 148967901T> C null V A 731 731 missense 0.049 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782373222 1q21.2 1 148967901T> G null V G 731 731 missense 0.703 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782371666 1q21.2 1 148968836G> A null D N 733 733 missense 0.445 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521244 1q21.2 1 148968846C> T null A V 736 736 missense 0.887 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782227020 1q21.2 1 148968848A> G null T A 737 737 missense 0.048 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553521261 1q21.2 1 148968852T> C null L P 738 738 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782168875 1q21.2 1 148968854C> T null L F 739 739 missense 0.486 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782678400 1q21.2 1 148968861A> G null K R 741 741 missense 0.673 possibly damaging 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782678400 1q21.2 1 148968861A> C null K T 741 741 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521301 1q21.2 1 148968864T> A null L H 742 742 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521310 1q21.2 1 148968867G> A null G E 743 743 missense 0.049 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521320 1q21.2 1 148968870C> T null P L 744 744 missense 0.87 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1360131650 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148968869C> T null P S 744 744 missense 0.929 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521334 1q21.2 1 148968877G> C null Q H 746 746 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782750197 1q21.2 1 148968876A> G null Q R 746 746 missense 0.111 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1243179057 1q21.2 1 148968878A> G null S G 747 747 missense 0.037 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782470871 1q21.2 1 148968879G> A null S N 747 747 missense 0.106 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs113881841 1q21.2 1 148968882A> G null E G 748 748 missense 0.733 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782691721 1q21.2 1 148968884A> T null I L 749 749 missense 0.044 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140770712 1q21.2 1 148968885T> C null I T 749 749 0.001198 missense 0.104 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521391 1q21.2 1 148968888C> G null A G 750 750 missense 0.643 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782022057 1q21.2 1 148968887G> T null A S 750 750 missense 0.142 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782022057 1q21.2 1 148968887G> A null A T 750 750 missense 0.17 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521400 1q21.2 1 148968890G> C null E Q 751 751 missense 0.771 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782114818 1q21.2 1 148968894A> C null E A 752 752 missense 0.552 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1364487301 1q21.2 1 148968895G> T null E D 752 752 missense 0.278 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781963158 1q21.2 1 148968902C> T null Q * 755 755 stop gained 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs367612221 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148968905C> T null R C 756 756 missense 0.766 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374875259 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148968906G> A null R H 756 756 2.0E-4 missense 0.377 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374875259 1q21.2 1 148968906G> T null R L 756 756 2.0E-4 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521450 1q21.2 1 148968909T> C null L P 757 757 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782269942 1q21.2 1 148968912A> G null Q R 758 758 missense 0.526 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs1778111 1q21.2 1 148968914C> T null R * 759 759 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1399881821 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148968915G> A null R Q 759 759 missense 0.017 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782365493 1q21.2 1 148968924G> A null R K 762 762 missense 0.023 benign 0.89 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782365493 1q21.2 1 148968924G> T null R M 762 762 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521513 1q21.2 1 148968926A> T null M L 763 763 missense 0.035 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782592194 1q21.2 1 148968930T> C null L P 764 764 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782451779 1q21.2 1 148968937C> A null D E 766 766 missense 0.04 benign 0.53 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521544 1q21.2 1 148968945G> A null S N 769 769 missense 0.057 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782678660 1q21.2 1 148968949T> A null D E 770 770 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781902074 1q21.2 1 148968947G> C null D H 770 770 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587712968 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.2 1 148968950C> T null R * 771 771 2.0E-4 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587712968 1q21.2 1 148968950C> G null R G 771 771 2.0E-4 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587658965 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375,cosmic_study:376 1q21.2 1 148968951G> T null R L 771 771 2.0E-4 missense 0.536 possibly damaging 0.02 deleterious 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587658965 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q21.2 1 148968951G> A null R Q 771 771 2.0E-4 missense 0.534 possibly damaging 0.01 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781804176 1q21.2 1 148968963T> C null V A 775 775 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782083513 1q21.2 1 148968962G> A null V M 775 775 missense 0.045 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782153501 1q21.2 1 148968965C> A null L M 776 776 missense 0.007 benign 0.57 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1430557664 1q21.2 1 148968966T> C null L P 776 776 missense 0.26 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521624 1q21.2 1 148968970A> C null E D 777 777 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1417097318 1q21.2 1 148968971C> A null H N 778 778 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782388723 1q21.2 1 148968973T> A null H Q 778 778 missense 0.29 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs200119015 1q21.2 1 148968972A> G null H R 778 778 missense 0.917 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521661 1q21.2 1 148968978T> C null M T 780 780 missense 0.014 benign 0.52 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521649 1q21.2 1 148968977A> G null M V 780 780 missense 0.003 benign 0.72 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782337784 1q21.2 1 148968985T> G null I M 782 782 missense 0.396 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781961808 1q21.2 1 148968984T> G null I S 782 782 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781961808 1q21.2 1 148968984T> C null I T 782 782 missense 0.263 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782191179 1q21.2 1 148968986C> G null Q E 783 783 missense 0.141 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371121555 1q21.2 1 148968989G> C null G R 784 784 3.99E-4 missense 0.785 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587699949 1q21.2 1 148968992C> G null L V 785 785 2.0E-4 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs202017066 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q21.2 1 148968999A> C null Q P 787 787 missense 0.944 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs202017066 1q21.2 1 148968999A> G null Q R 787 787 missense 0.083 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781823346 1q21.2 1 148969007A> G null S G 790 790 missense 0.06 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782586210 1q21.2 1 148969008G> A null S N 790 790 missense 0.087 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553521798 1q21.2 1 148969019C> A null Q K 794 794 missense 0.278 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs200631773 1q21.2 1 148969023A> G null E G 795 795 3.99E-4 missense 0.258 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782123682 1q21.2 1 148969028C> G null Q E 797 797 missense 0.345 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553528985 1q21.2 1 148972181C> A null A D 798 798 missense 0.065 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781993925 1q21.2 1 148972180G> A null A T 798 798 missense 0.244 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782369582 1q21.2 1 148972183G> A null A T 799 799 missense 0.035 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1297602304 1q21.2 1 148972186G> A null A T 800 800 missense 0.049 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782220415 1q21.2 1 148972193A> T null K M 802 802 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782598843 1q21.2 1 148972198G> A null V M 804 804 missense 0.237 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782437261 1q21.2 1 148972201C> T null Q * 805 805 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782658831 1q21.2 1 148972205C> G null A G 806 806 missense 0.532 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782298949 1q21.2 1 148972204G> A null A T 806 806 missense 0.86 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs782419301 1q21.2 1 148972212G> A null M I 808 808 missense 0.003 benign 0.37 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782522943 1q21.2 1 148972210A> G null M V 808 808 missense 0.03 benign 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781857692 1q21.2 1 148972215A> C null E D 809 809 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553529166 1q21.2 1 148972216A> G null R G 810 810 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782750113 1q21.2 1 148972217G> T null R I 810 810 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1394785809 1q21.2 1 148972230A> C null L F 814 814 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782470275 1q21.2 1 148972231C> T null Q * 815 815 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553529236 1q21.2 1 148972232A> C null Q P 815 815 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782704969 1q21.2 1 148972234G> T null A S 816 816 missense 0.059 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782704969 1q21.2 1 148972234G> A null A T 816 816 missense 0.024 benign 0.43 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782160523 1q21.2 1 148972235C> T null A V 816 816 missense 0.024 benign 0.77 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782773952 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148972240C> T null R C 818 818 missense 0.956 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,dbSNP,gnomAD rs1629011 1q21.2 1 148972241G> A null R H 818 818 missense 0.847 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781961432 1q21.2 1 148972243C> G null Q E 819 819 missense 0.501 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782425886 1q21.2 1 148972256G> A null G E 823 823 missense 0.057 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782037936 1q21.2 1 148972255G> A null G R 823 823 missense 0.322 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782259161 1q21.2 1 148972258A> G null R G 824 824 missense 0.116 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782636354 1q21.2 1 148972260A> C null R S 824 824 missense 0.031 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782363593 1q21.2 1 148972261G> T null D Y 825 825 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1177172520 1q21.2 1 148972265C> T null S F 826 826 missense 0.003 benign 0.78 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782582996 1q21.2 1 148972271T> C null M T 828 828 missense 0.003 benign 0.5 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782436771 1q21.2 1 148972276C> T null Q * 830 830 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782436771 1q21.2 1 148972276C> G null Q E 830 830 missense 0.213 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781903417 1q21.2 1 148972277A> G null Q R 830 830 missense 0.078 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782521458 1q21.2 1 148972280C> T null A V 831 831 missense 0.057 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138598077 1q21.2 1 148972283C> A null P H 832 832 0.001398 missense 0.01 benign 0.54 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138598077 1q21.2 1 148972283C> G null P R 832 832 0.001398 missense 0.031 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781846892 1q21.2 1 148972282C> T null P S 832 832 missense 0.102 benign 0.44 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782079610 1q21.2 1 148972289C> G null S C 834 834 missense 0.909 probably damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1347438011 1q21.2 1 148972291A> G null N D 835 835 missense 0.015 benign 0.53 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1347438011 1q21.2 1 148972291A> C null N H 835 835 missense 0.06 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553529659 1q21.2 1 148972300G> T null A S 838 838 missense 0.175 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553529679 1q21.2 1 148972301C> T null A V 838 838 missense 0.009 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782815887 1q21.2 1 148972306G> A null V I 840 840 missense 0.015 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782150525 1q21.2 1 148972310C> T null T I 841 841 missense 0.015 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553529779 1q21.2 1 148972309A> C null T P 841 841 missense 0.006 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs199863398 1q21.2 1 148972313C> A null P H 842 842 missense 0.005 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs199863398 1q21.2 1 148972313C> T null P L 842 842 missense 0.0 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs199863398 1q21.2 1 148972313C> G null P R 842 842 missense 0.0 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs111781964 1q21.2 1 148972316C> G null T S 843 843 missense 0.005 benign 0.55 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1628172 pubmed:16710414,pubmed:17974005 1q21.2 1 148972321C> T null R C 845 845 0.1162 missense 0.015 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141687535 1q21.2 1 148972322G> A null R H 845 845 0.001797 missense 0.006 benign 0.94 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141687535 1q21.2 1 148972322G> T null R L 845 845 0.001797 missense 0.003 benign 0.39 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553529933 1q21.2 1 148972325T> C null L P 846 846 missense 0.078 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553529933 1q21.2 1 148972325T> G null L R 846 846 missense 0.396 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553529961 1q21.2 1 148972328G> A null G E 847 847 missense 0.038 benign 0.48 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553529946 1q21.2 1 148972327G> A null G R 847 847 missense 0.038 benign 0.37 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782417467 1q21.2 1 148972330A> G null K E 848 848 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553529995 1q21.2 1 148972334A> G null Q R 849 849 missense 0.623 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs113683013 1q21.2 1 148972337C> T null T I 850 850 missense 0.038 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs137930533 1q21.2 1 148972339G> C null D H 851 851 missense 0.801 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs137930533 1q21.2 1 148972339G> A null D N 851 851 missense 0.314 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782573034 1q21.2 1 148972342C> G null Q E 852 852 missense 0.044 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782742514 cosmic curated [Cosmic]: kidney cosmic_study:416 1q21.2 1 148972512G> A null G D 853 853 missense 0.023 benign 0.14 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781971531 1q21.2 1 148972511G> C null G R 853 853 missense 0.175 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782058685 1q21.2 1 148972515C> T null S L 854 854 missense 0.007 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782404973 1q21.2 1 148972519G> A null M I 855 855 missense 0.017 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782037125 1q21.2 1 148972517A> G null M V 855 855 missense 0.003 benign 0.61 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782265719 1q21.2 1 148972520C> T null Q * 856 856 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587762682 1q21.2 1 148972523A> T null I L 857 857 2.0E-4 missense 0.003 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148999139 1q21.2 1 148972525A> G null I M 857 857 0.001198 missense 0.03 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1319852656 1q21.2 1 148972524T> C null I T 857 857 missense 0.015 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587762682 1q21.2 1 148972523A> G null I V 857 857 2.0E-4 missense 0.009 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587655899 1q21.2 1 148972527C> G null P R 858 858 3.99E-4 missense 0.038 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs149815005 1q21.2 1 148972526C> T null P S 858 858 missense 0.065 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs149815005 1q21.2 1 148972526C> A null P T 858 858 missense 0.445 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782285816 1q21.2 1 148972533G> C null R T 860 860 missense 0.176 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782514686 1q21.2 1 148972536A> G null D G 861 861 missense 0.015 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782669111 1q21.2 1 148972535G> A null D N 861 861 missense 0.015 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782514686 1q21.2 1 148972536A> T null D V 861 861 missense 0.125 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782669111 1q21.2 1 148972535G> T null D Y 861 861 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587758092 1q21.2 1 148972539A> G null D G 862 862 2.0E-4 missense 0.001 benign 0.55 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782687812 1q21.2 1 148972542G> T null S I 863 863 missense 0.175 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782687812 1q21.2 1 148972542G> A null S N 863 863 missense 0.015 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782149193 1q21.2 1 148972543C> A null S R 863 863 missense 0.015 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782687812 1q21.2 1 148972542G> C null S T 863 863 missense 0.023 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553531059 1q21.2 1 148972548C> G null S * 865 865 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781871554 1q21.2 1 148972547T> G null S A 865 865 missense 0.039 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782777634 1q21.2 1 148972551T> C null L S 866 866 missense 0.795 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782331570 1q21.2 1 148972554C> G null T S 867 867 missense 0.16 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs375475879 1q21.2 1 148972553A> T null T S 867 867 missense 0.16 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782056942 1q21.2 1 148972556G> A null A T 868 868 missense 0.057 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1445528989 1q21.2 1 148972559A> G null K E 869 869 missense 0.177 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553531218 1q21.2 1 148972560A> C null K T 869 869 missense 0.608 possibly damaging 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553531230 1q21.2 1 148972563A> T null E V 870 870 missense 0.015 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1260705801 1q21.2 1 148972566A> T null D V 871 871 missense 0.532 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587641697 1q21.2 1 148972569T> C null V A 872 872 7.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP rs142558765 1q21.2 1 148972572G> A null S N 873 873 missense 0.014 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1232648939 1q21.2 1 148972574A> T null I L 874 874 missense 0.01 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782252621 1q21.2 1 148972575T> C null I T 874 874 missense 0.05 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553531304 1q21.2 1 148972578C> T null P L 875 875 missense 0.035 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs199562796 1q21.2 1 148972580A> G null R G 876 876 3.99E-4 missense 0.078 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553531336 1q21.2 1 148972583T> G null S A 877 877 missense 0.078 benign 0.37 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782361257 1q21.2 1 148972584C> G null S C 877 877 missense 0.907 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782361257 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148972584C> T null S F 877 877 missense 0.038 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782436503 1q21.2 1 148972592G> C null G R 880 880 missense 0.278 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs638260 1q21.2 1 148974518C> G null D E 881 881 missense 0.023 benign 0.92 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535210 1q21.2 1 148974520T> C null L S 882 882 missense 0.015 benign 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535203 1q21.2 1 148974519T> G null L V 882 882 missense 0.015 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782774034 1q21.2 1 148974523A> G null D G 883 883 missense 0.015 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782488754 1q21.2 1 148974526C> T null T I 884 884 missense 0.024 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535253 1q21.2 1 148974531G> T null A S 886 886 missense 0.095 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs373530851 1q21.2 1 148974532C> T null A V 886 886 missense 0.057 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782136864 1q21.2 1 148974535G> C null G A 887 887 missense 0.33 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781917469 1q21.2 1 148974534G> A null G R 887 887 missense 0.445 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782136864 1q21.2 1 148974535G> T null G V 887 887 missense 0.845 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782312065 1q21.2 1 148974542A> C null E D 889 889 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781947377 1q21.2 1 148974541A> G null E G 889 889 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535312 1q21.2 1 148974540G> C null E Q 889 889 missense 0.957 probably damaging 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782296850 1q21.2 1 148974543A> G null K E 890 890 missense 0.17 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782673018 1q21.2 1 148974544A> C null K T 890 890 missense 0.883 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535387 1q21.2 1 148974554T> G null S R 893 893 missense 0.426 benign 0.47 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP rs141597751 1q21.2 1 148974553G> C null S T 893 893 missense 0.078 benign 0.59 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559105373 1q21.2 1 148974555A> G null N D 894 894 missense 0.16 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535389 1q21.2 1 148974559C> T null A V 895 895 missense 0.91 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587689857 1q21.2 1 148974561A> G null K E 896 896 2.0E-4 missense 0.816 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587653175 1q21.2 1 148974564G> T null E * 897 897 3.99E-4 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148375132 1q21.2 1 148974565A> G null E G 897 897 3.99E-4 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587653175 1q21.2 1 148974564G> C null E Q 897 897 3.99E-4 missense 0.746 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148375132 1q21.2 1 148974565A> T null E V 897 897 3.99E-4 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535415 1q21.2 1 148974570C> T null L F 899 899 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535415 1q21.2 1 148974570C> G null L V 899 899 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781806532 1q21.2 1 148974573G> A null E K 900 900 missense 0.808 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782704975 1q21.2 1 148974576C> T null L F 901 901 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781884261 1q21.2 1 148974581G> A null M I 902 902 missense 0.056 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781884261 1q21.2 1 148974581G> T null M I 902 902 missense 0.056 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535436 1q21.2 1 148974579A> G null M V 902 902 missense 0.101 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535452 1q21.2 1 148974583C> T null A V 903 903 missense 0.06 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535458 1q21.2 1 148974585A> G null K E 904 904 missense 0.76 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587703986 1q21.2 1 148974587A> C null K N 904 904 7.99E-4 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535474 1q21.2 1 148974586A> C null K T 904 904 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553535487 1q21.2 1 148974591G> T null E * 906 906 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587623968 1q21.2 1 148974592A> G null E G 906 906 5.99E-4 missense 0.823 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553535487 1q21.2 1 148974591G> A null E K 906 906 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535504 1q21.2 1 148974594A> G null R G 907 907 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553535520 1q21.2 1 148974600A> C null S R 909 909 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553538857 1q21.2 1 148977937A> C null M L 911 911 missense 0.003 benign 0.61 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553538868 1q21.2 1 148977947C> G null S C 914 914 missense 0.262 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553538883 1q21.2 1 148977955C> T null Q * 917 917 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587642335 1q21.2 1 148977956A> G null Q R 917 917 7.99E-4 missense 0.859 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782627354 1q21.2 1 148977961A> G null M V 919 919 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34169189 1q21.2 1 148977966G> T null M I 920 920 0.09325 missense 0.003 benign 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34169189 1q21.2 1 148977966G> A null M I 920 920 0.09325 missense 0.003 benign 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782342374 1q21.2 1 148977964A> T null M L 920 920 missense 0.014 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1214582640 1q21.2 1 148977971T> A null V E 922 922 missense 0.125 benign 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781894633 1q21.2 1 148977979G> A null E K 925 925 missense 0.43 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs113698177 1q21.2 1 148977983A> G null E G 926 926 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553538983 cosmic curated [Cosmic]: kidney cosmic_study:416 1q21.2 1 148977988C> T null Q * 928 928 missense 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553539013 1q21.2 1 148977998C> G null A G 931 931 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553539005 1q21.2 1 148977997G> A null A T 931 931 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1399035639 1q21.2 1 148978001C> T null A V 932 932 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782519137 1q21.2 1 148978003G> A null D N 933 933 missense 0.873 possibly damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,TOPMed rs139319586 1q21.2 1 148978008G> A null M I 934 934 missense 0.014 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs150582878 1q21.2 1 148978007T> C null M T 934 934 missense 0.234 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782736651 1q21.2 1 148978009G> A null E K 935 935 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs781819012 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148978013C> T null S F 936 936 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782061232 1q21.2 1 148978021A> G null R G 939 939 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781789996 1q21.2 1 148978024A> G null N D 940 940 missense 0.136 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553539079 1q21.2 1 148978026C> A null N K 940 940 missense 0.136 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782811339 1q21.2 1 148978027A> C null I L 941 941 missense 0.082 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1348592189 1q21.2 1 148978029A> G null I M 941 941 missense 0.285 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782147793 1q21.2 1 148978028T> C null I T 941 941 missense 0.403 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,TOPMed,gnomAD rs377267435 1q21.2 1 148978035T> G null I M 943 943 missense 0.939 probably damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1410565958 1q21.2 1 148978042G> C null D H 946 946 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1410565958 1q21.2 1 148978042G> A null D N 946 946 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1410565958 1q21.2 1 148978042G> T null D Y 946 946 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1197396170 1q21.2 1 148978280C> A null D E 950 950 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553539322 1q21.2 1 148978278G> A null D N 950 950 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1461383329 1q21.2 1 148978281C> A null L M 951 951 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782035080 1q21.2 1 148978289G> T null M I 953 953 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782035080 1q21.2 1 148978289G> A null M I 953 953 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1300987395 1q21.2 1 148978296G> T null V F 956 956 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1224754588 1q21.2 1 148978300A> T null D V 957 957 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782801437 cosmic curated [Cosmic]: NS pubmed:24265154,cosmic_study:526 1q21.2 1 148978305G> A null E K 959 959 missense 0.864 possibly damaging 0.04 deleterious 1 A0A075B749 PDE4DIP Myomegalin TOPMed rs1379748854 1q21.2 1 148978311A> T null I L 961 961 missense 0.039 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782140969 1q21.2 1 148978315C> T null P L 962 962 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782140969 1q21.2 1 148978315C> A null P Q 962 962 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781993532 1q21.2 1 148978317G> C null A P 963 963 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587616583 1q21.2 1 148978320A> G null M V 964 964 0.005591 missense 0.007 benign 0.89 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587727086 1q21.2 1 148978324A> G null E G 965 965 2.0E-4 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781928446 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 1q21.2 1 148978326C> T null R C 966 966 missense 0.384 benign 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782299364 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148978327G> A null R H 966 966 missense 0.384 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781928446 1q21.2 1 148978326C> A null R S 966 966 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1464713271 1q21.2 1 148978333C> G null T S 968 968 missense 0.971 probably damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782288568 1q21.2 1 148978338G> A null E K 970 970 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553539460 1q21.2 1 148978341G> A null V I 971 971 missense 0.821 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1358843482 1q21.2 1 148978347C> T null L F 973 973 missense 0.798 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553539470 1q21.2 1 148978348T> C null L P 973 973 missense 0.917 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782667579 1q21.2 1 148978350C> T null L F 974 974 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs868989785 1q21.2 1 148978354G> T null R L 975 975 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs868989785 1q21.2 1 148978354G> A null R Q 975 975 missense 0.911 probably damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587663656 1q21.2 1 148978353C> T null R W 975 975 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782243093 1q21.2 1 148978360A> C null K T 977 977 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782605603 1q21.2 1 148978363T> C null V A 978 978 missense 0.559 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553539531 1q21.2 1 148978365G> C null A P 979 979 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1378338428 1q21.2 1 148978372T> C null V A 981 981 missense 0.024 benign 0.78 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1378338428 1q21.2 1 148978372T> G null V G 981 981 missense 0.104 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553539577 1q21.2 1 148978377T> A null S T 983 983 missense 0.612 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1177970694 1q21.2 1 148978381A> G null Q R 984 984 missense 0.166 benign 0.49 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553539585 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148978387A> G null Q R 986 986 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782450920 1q21.2 1 148978392A> G null I V 988 988 missense 0.003 benign 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781791047 1q21.2 1 148978396C> T null S L 989 989 missense 0.038 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553539626 1q21.2 1 148978403C> A null N K 991 991 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782804331 1q21.2 1 148978404C> T null R * 992 992 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782804331 1q21.2 1 148978404C> G null R G 992 992 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782553091 1q21.2 1 148978405G> A null R Q 992 992 missense 0.135 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782766673 1q21.2 1 148978411A> G null Q R 994 994 missense 0.76 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553539662 1q21.2 1 148978415G> C null Q H 995 995 missense 0.262 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1489120910 1q21.2 1 148979749C> G null L V 1000 1000 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553540587 1q21.2 1 148979765A> C null D A 1005 1005 missense 0.081 benign 0.97 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553540587 1q21.2 1 148979765A> G null D G 1005 1005 missense 0.718 possibly damaging 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782093378 1q21.2 1 148979771G> A null R Q 1007 1007 missense 0.3 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141639076 1q21.2 1 148979770C> T null R W 1007 1007 0.001198 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553540599 1q21.2 1 148979774G> A null S N 1008 1008 missense 0.057 benign 0.62 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553540606 1q21.2 1 148979775T> G null S R 1008 1008 missense 0.315 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782311425 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148979777G> A null R Q 1009 1009 missense 0.58 possibly damaging 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs371870255 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 1q21.2 1 148979776C> T null R W 1009 1009 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782170026 1q21.2 1 148979783A> G null N S 1011 1011 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs61741351 1q21.2 1 148979795A> G null Q R 1015 1015 missense 0.112 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782020225 1q21.2 1 148979797G> A null A T 1016 1016 missense 0.203 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1294650613 1q21.2 1 148979807A> G null Q R 1019 1019 missense 0.936 probably damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782392460 1q21.2 1 148979813A> G null Y C 1021 1021 missense 0.938 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553540687 1q21.2 1 148979819G> A null S N 1023 1023 missense 0.942 probably damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1387251249 1q21.2 1 148979821C> A null L M 1024 1024 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1387251249 1q21.2 1 148979821C> G null L V 1024 1024 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1392882383 1q21.2 1 148979824G> A null V M 1025 1025 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553540719 1q21.2 1 148979827A> G null K E 1026 1026 missense 0.396 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782247719 1q21.2 1 148979828A> G null K R 1026 1026 missense 0.112 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782247719 1q21.2 1 148979828A> C null K T 1026 1026 missense 0.883 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782348659 1q21.2 1 148979833C> G null H D 1028 1028 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1478977830 1q21.2 1 148979837C> G null A G 1029 1029 missense 0.33 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553540759 1q21.2 1 148979836G> C null A P 1029 1029 missense 0.919 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1192969267 1q21.2 1 148979839C> T null H Y 1030 1030 missense 0.873 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587704559 1q21.2 1 148979846A> G null E G 1032 1032 2.0E-4 missense 0.024 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1434252131 1q21.2 1 148979845G> C null E Q 1032 1032 missense 0.685 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553540833 1q21.2 1 148979849G> A null S N 1033 1033 missense 0.191 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1468788983 1q21.2 1 148981281A> C null D A 1037 1037 missense 0.55 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1363456472 1q21.2 1 148981283C> T null R * 1038 1038 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1363456472 1q21.2 1 148981283C> G null R G 1038 1038 missense 0.069 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs868928439 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 1q21.2 1 148981284G> A null R Q 1038 1038 missense 0.042 benign 0.45 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782712339 1q21.2 1 148981286A> C null T P 1039 1039 missense 0.71 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781989816 1q21.2 1 148981294G> C null Q H 1041 1041 missense 0.766 possibly damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1210046255 1q21.2 1 148981296T> C null V A 1042 1042 missense 0.095 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782765179 1q21.2 1 148981295G> A null V M 1042 1042 missense 0.445 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782087404 1q21.2 1 148981317T> G null V G 1049 1049 missense 0.445 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs200330433 1q21.2 1 148981322C> T null R C 1051 1051 2.0E-4 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782300605 1q21.2 1 148981323G> A null R H 1051 1051 missense 0.897 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149457597 1q21.2 1 148981325A> G null S G 1052 1052 0.001398 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782389148 1q21.2 1 148981329G> A null R Q 1053 1053 missense 0.451 possibly damaging 0.82 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782015690 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148981328C> T null R W 1053 1053 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553542733 1q21.2 1 148981338A> T null E V 1056 1056 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed rs373710045 1q21.2 1 148981340G> A null V I 1057 1057 missense 0.024 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1414700227 1q21.2 1 148981346G> C null G R 1059 1059 missense 0.362 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553542787 1q21.2 1 148981349A> G null R G 1060 1060 missense 0.683 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs142604413 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:376,cosmic_study:417 1q21.2 1 148981361C> T null R C 1064 1064 missense 0.447 possibly damaging 0.18 tolerated 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370541184 1q21.2 1 148981362G> A null R H 1064 1064 2.0E-4 missense 0.696 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs142604413 1q21.2 1 148981361C> A null R S 1064 1064 missense 0.992 probably damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781878406 1q21.2 1 148981366A> T null L F 1065 1065 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782769729 1q21.2 1 148981368A> G null N S 1066 1066 missense 0.001 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553542887 1q21.2 1 148981372G> T null R S 1067 1067 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1463257949 1q21.2 1 148981374T> A null L Q 1068 1068 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553542920 1q21.2 1 148981377A> C null E A 1069 1069 missense 0.942 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587704932 1q21.2 1 148981379A> C null T P 1070 1070 2.0E-4 missense 0.919 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587704932 1q21.2 1 148981379A> T null T S 1070 1070 2.0E-4 missense 0.08 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs376498456 1q21.2 1 148981388G> A null A T 1073 1073 missense 0.674 possibly damaging 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782043140 1q21.2 1 148981392T> C null I T 1074 1074 missense 0.038 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782741652 1q21.2 1 148991885G> C null G A 1076 1076 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782741652 1q21.2 1 148991885G> A null G D 1076 1076 missense 0.924 probably damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs138493755 1q21.2 1 148991888C> A null A E 1077 1077 missense 0.328 benign 0.97 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553559335 1q21.2 1 148991891C> G null A G 1078 1078 missense 0.083 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782316856 1q21.2 1 148991890G> A null A T 1078 1078 missense 0.035 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782173901 1q21.2 1 148991894C> T null A V 1079 1079 missense 0.023 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553559369 1q21.2 1 148991896G> T null G W 1080 1080 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782388477 1q21.2 1 148991899G> T null D Y 1081 1081 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782621466 1q21.2 1 148991904C> G null D E 1082 1082 missense 0.342 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782234428 1q21.2 1 148991902G> A null D N 1082 1082 missense 0.731 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587733857 1q21.2 1 148991906C> T null T I 1083 1083 2.0E-4 missense 0.056 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587733857 1q21.2 1 148991906C> G null T S 1083 1083 2.0E-4 missense 0.345 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs151273118 1q21.2 1 148991908G> T null E * 1084 1084 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782636625 1q21.2 1 148991909A> G null E G 1084 1084 missense 0.44 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs151273118 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148991908G> A null E K 1084 1084 missense 0.814 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781826286 1q21.2 1 148991914A> G null T A 1086 1086 missense 0.001 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553559544 1q21.2 1 148991915C> T null T I 1086 1086 missense 0.049 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781826286 1q21.2 1 148991914A> C null T P 1086 1086 missense 0.015 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553559552 1q21.2 1 148991917A> G null S G 1087 1087 missense 0.715 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782734302 1q21.2 1 148991918G> A null S N 1087 1087 missense 0.957 probably damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781913856 1q21.2 1 148991920A> T null T S 1088 1088 missense 0.709 possibly damaging 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587670039 1q21.2 1 148991926T> C null F L 1090 1090 2.0E-4 missense 0.877 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1348989969 1q21.2 1 148991929A> G null T A 1091 1091 missense 0.619 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781977993 1q21.2 1 148991936G> T null S I 1093 1093 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553559697 1q21.2 1 148991940T> G null I M 1094 1094 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782733592 1q21.2 1 148991939T> C null I T 1094 1094 missense 0.942 probably damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553559737 1q21.2 1 148991942A> C null E A 1095 1095 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553559712 1q21.2 1 148991941G> A null E K 1095 1095 missense 0.709 possibly damaging 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781931897 1q21.2 1 148991946G> C null E D 1096 1096 missense 0.995 probably damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782078823 1q21.2 1 148991945A> G null E G 1096 1096 missense 0.875 possibly damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782305169 1q21.2 1 148991948A> T null E V 1097 1097 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553559785 1q21.2 1 148991951C> A null A D 1098 1098 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553559791 1q21.2 1 148991956C> T null H Y 1100 1100 missense 0.75 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes rs587602182 1q21.2 1 148991960A> G null H R 1101 1101 2.0E-4 missense 0.003 benign 0.54 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782005116 1q21.2 1 148991965C> A null H N 1103 1103 missense 0.941 probably damaging 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1167278420 1q21.2 1 148991967C> A null H Q 1103 1103 missense 0.982 probably damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1167278420 1q21.2 1 148991967C> G null H Q 1103 1103 missense 0.982 probably damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782376816 1q21.2 1 148991966A> G null H R 1103 1103 missense 0.583 possibly damaging 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553567963 1q21.2 1 148998143C> T null L F 1106 1106 missense 0.089 benign 0.43 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782454014 1q21.2 1 148998144T> A null L H 1106 1106 missense 0.16 benign 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553567963 1q21.2 1 148998143C> G null L V 1106 1106 missense 0.038 benign 0.43 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568030 1q21.2 1 148998149A> G null K E 1108 1108 missense 0.358 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568050 1q21.2 1 148998150A> C null K T 1108 1108 missense 0.941 probably damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568089 1q21.2 1 148998155G> A null A T 1110 1110 missense 0.445 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs781904318 1q21.2 1 148998160G> C null L F 1111 1111 missense 0.696 possibly damaging 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587611891 1q21.2 1 148998165A> G null K R 1113 1113 2.0E-4 missense 0.66 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781982892 1q21.2 1 148998171T> G null L R 1115 1115 missense 0.129 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568163 1q21.2 1 148998174C> G null A G 1116 1116 missense 0.04 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782060527 1q21.2 1 148998173G> C null A P 1116 1116 missense 0.75 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782060527 1q21.2 1 148998173G> A null A T 1116 1116 missense 0.035 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568169 1q21.2 1 148998186C> G null T S 1120 1120 missense 0.026 benign 0.44 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782268661 1q21.2 1 148998195C> G null P R 1123 1123 missense 0.0 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568207 1q21.2 1 148998197T> C null S P 1124 1124 missense 0.009 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568207 1q21.2 1 148998197T> A null S T 1124 1124 missense 0.009 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782368555 1q21.2 1 148998203T> C null S P 1126 1126 missense 0.009 benign 0.84 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568230 1q21.2 1 148998206C> G null P A 1127 1127 missense 0.396 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568235 1q21.2 1 148998207C> G null P R 1127 1127 missense 0.893 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782180654 1q21.2 1 148998209C> T null P S 1128 1128 missense 0.095 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782180654 1q21.2 1 148998209C> A null P T 1128 1128 missense 0.631 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782694516 1q21.2 1 148998212T> G null S A 1129 1129 missense 0.072 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs782642789 1q21.2 1 148998213C> T null S F 1129 1129 missense 0.766 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782694516 1q21.2 1 148998212T> C null S P 1129 1129 missense 0.024 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782531503 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148998216C> T null P L 1130 1130 missense 0.003 benign 0.49 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782765506 1q21.2 1 148998221G> A null G R 1132 1132 missense 0.915 probably damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781804192 1q21.2 1 148998224G> C null G R 1133 1133 missense 0.917 probably damaging 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782157516 1q21.2 1 148998229C> A null D E 1134 1134 missense 0.014 benign 0.43 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782687976 1q21.2 1 148998227G> C null D H 1134 1134 missense 0.815 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782687976 1q21.2 1 148998227G> A null D N 1134 1134 missense 0.035 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782687976 1q21.2 1 148998227G> T null D Y 1134 1134 missense 0.87 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782010363 1q21.2 1 148998231G> C null S T 1135 1135 missense 0.113 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781965755 1q21.2 1 148998238G> T null R S 1137 1137 missense 0.15 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782103633 1q21.2 1 148998236A> T null R W 1137 1137 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781925688 1q21.2 1 148998241T> G null C W 1138 1138 missense 0.858 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587658414 1q21.2 1 148998240G> A null C Y 1138 1138 2.0E-4 missense 0.314 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568367 cosmic curated [Cosmic]: skin pubmed:22197931,cosmic_study:389 1q21.2 1 148998242C> T null L F 1139 1139 missense 0.18 benign 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs139542367 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148998246A> C null Q P 1140 1140 2.0E-4 missense 0.304 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs139542367 1q21.2 1 148998246A> G null Q R 1140 1140 2.0E-4 missense 0.973 probably damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782278074 1q21.2 1 148998250A> C null E D 1141 1141 missense 0.983 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568411 1q21.2 1 148998251G> T null E * 1142 1142 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs141648958 1q21.2 1 148998252A> G null E G 1142 1142 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782230757 1q21.2 1 148998256G> T null M I 1143 1143 missense 0.006 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782380402 1q21.2 1 148998254A> G null M V 1143 1143 missense 0.01 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782586142 1q21.2 1 148998257C> T null L F 1144 1144 missense 0.071 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781903325 1q21.2 1 148998261A> T null H L 1145 1145 missense 0.026 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781903325 1q21.2 1 148998261A> G null H R 1145 1145 missense 0.007 benign 0.53 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782433498 1q21.2 1 148998260C> T null H Y 1145 1145 missense 0.511 possibly damaging 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782670958 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 1q21.2 1 148998267G> A null R K 1147 1147 missense 0.023 benign 0.28 tolerated 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568608 1q21.2 1 148998270C> T null A V 1148 1148 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587642859 1q21.2 1 148998272G> A null E K 1149 1149 2.0E-4 missense 0.583 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782092559 1q21.2 1 148998273A> T null E V 1149 1149 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,dbSNP,gnomAD rs1698624 pubmed:17974005 1q21.2 1 148998275T> A null F I 1150 1150 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782705169 1q21.2 1 148998276T> C null F S 1150 1150 missense 0.0 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782172191 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148998278C> T null H Y 1151 1151 missense 0.915 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568746 1q21.2 1 148998281C> T null Q * 1152 1152 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782111801 1q21.2 1 148998283G> C null Q H 1152 1152 missense 0.16 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553568768 1q21.2 1 148998282A> G null Q R 1152 1152 missense 0.056 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1486341239 1q21.2 1 148998290G> A null E K 1155 1155 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782321901 1q21.2 1 148998301G> C null R S 1158 1158 missense 0.345 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782180224 1q21.2 1 148998305G> A null A T 1160 1160 missense 0.274 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs147345047 1q21.2 1 148998308G> A null E K 1161 1161 missense 0.469 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC rs138515637 1q21.2 1 148998313G> C null E D 1162 1162 missense 0.291 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1351033602 1q21.2 1 148998311G> A null E K 1162 1162 missense 0.03 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782260068 1q21.2 1 148998321A> G null K R 1165 1165 missense 0.034 benign 0.59 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,gnomAD rs369255795 1q21.2 1 148998326C> A null L I 1167 1167 missense 0.957 probably damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553568994 1q21.2 1 148998327T> C null L P 1167 1167 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782491633 1q21.2 1 148998333C> G null A G 1169 1169 missense 0.191 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782620072 1q21.2 1 148998332G> T null A S 1169 1169 missense 0.401 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782620072 1q21.2 1 148998332G> A null A T 1169 1169 missense 0.552 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs147561495 1q21.2 1 148998336A> C null Q P 1170 1170 0.002596 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587620818 1q21.2 1 148998339T> G null I S 1171 1171 2.0E-4 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587620818 1q21.2 1 148998339T> C null I T 1171 1171 2.0E-4 missense 0.212 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553569073 1q21.2 1 148998338A> G null I V 1171 1171 missense 0.526 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781911074 1q21.2 1 148998341G> A null E K 1172 1172 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782138529 1q21.2 1 148998348C> A null A E 1174 1174 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782138529 1q21.2 1 148998348C> G null A G 1174 1174 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782799492 1q21.2 1 148998347G> A null A T 1174 1174 missense 0.957 probably damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,NCI-TCGA,gnomAD rs782739764 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 1q21.2 1 148998351G> C null G A 1175 1175 missense 0.99 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC rs781858584 1q21.2 1 148998350G> A null G R 1175 1175 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553569167 1q21.2 1 148998357C> G null S C 1177 1177 missense 0.942 probably damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553569199 1q21.2 1 148998360C> G null S * 1178 1178 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781920247 1q21.2 1 148998359T> G null S A 1178 1178 missense 0.932 probably damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587753055 1q21.2 1 148998366C> T null S F 1180 1180 2.0E-4 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782811153 1q21.2 1 148998365T> A null S T 1180 1180 missense 0.561 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781995861 1q21.2 1 148998368C> T null H Y 1181 1181 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781799990 1q21.2 1 149001599T> G null M R 1186 1186 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782708248 1q21.2 1 149001604A> T null S C 1188 1188 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782167007 1q21.2 1 149001605G> A null S N 1188 1188 missense 0.995 probably damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782708248 1q21.2 1 149001604A> C null S R 1188 1188 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1199619270 1q21.2 1 149001606C> G null S R 1188 1188 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782776330 1q21.2 1 149001613C> T null L F 1191 1191 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782117019 1q21.2 1 149001620A> G null N S 1193 1193 missense 0.86 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs150222697 1q21.2 1 149001623C> A null A E 1194 1194 missense 0.977 probably damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553576097 1q21.2 1 149001622G> A null A T 1194 1194 missense 0.974 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs150222697 1q21.2 1 149001623C> T null A V 1194 1194 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782417713 1q21.2 1 149001627G> C null E D 1195 1195 missense 0.596 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782035904 1q21.2 1 149001625G> A null E K 1195 1195 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs201225125 1q21.2 1 149001631A> G null K E 1197 1197 2.0E-4 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1222030742 1q21.2 1 149001635A> T null E V 1198 1198 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553576320 1q21.2 1 149001640A> T null M L 1200 1200 missense 0.023 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782577075 1q21.2 1 149001650C> A null A E 1203 1203 missense 0.278 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1698647 pubmed:17974005 1q21.2 1 149001649G> A null A T 1203 1203 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782577075 1q21.2 1 149001650C> T null A V 1203 1203 missense 0.278 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782429372 1q21.2 1 149001653T> C null M T 1204 1204 missense 0.007 benign 0.48 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781911914 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 1q21.2 1 149001658G> A null D N 1206 1206 missense 0.981 probably damaging 0.01 deleterious 1 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1274926554 1q21.2 1 149001659A> T null D V 1206 1206 missense 0.981 probably damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781859229 1q21.2 1 149001666G> A null W * 1208 1208 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781859229 1q21.2 1 149001666G> C null W C 1208 1208 missense 0.499 possibly damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs113962741 1q21.2 1 149001664T> C null W R 1208 1208 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782083975 1q21.2 1 149001672C> G null I M 1210 1210 missense 0.055 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782763264 1q21.2 1 149001671T> A null I N 1210 1210 missense 0.03 benign 0.64 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782763264 1q21.2 1 149001671T> C null I T 1210 1210 missense 0.177 benign 0.57 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs200025414 1q21.2 1 149001673G> A null E K 1211 1211 2.0E-4 missense 0.799 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782701282 1q21.2 1 149001676G> A null E K 1212 1212 missense 0.816 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782148843 1q21.2 1 149001679G> C null D H 1213 1213 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553576652 1q21.2 1 149001680A> T null D V 1213 1213 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes rs200678992 1q21.2 1 149001683A> G null K R 1214 1214 missense 0.078 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1224765395 1q21.2 1 149001686A> G null E G 1215 1215 missense 0.191 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782003408 1q21.2 1 149001688A> G null K E 1216 1216 missense 0.244 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553576787 1q21.2 1 149001692G> A null G D 1217 1217 missense 0.921 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553576756 1q21.2 1 149001691G> C null G R 1217 1217 missense 0.951 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553576756 1q21.2 1 149001691G> A null G S 1217 1217 missense 0.703 possibly damaging 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs201403178 1q21.2 1 149001694G> A null E K 1218 1218 9.98E-4 missense 0.082 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553576871 cosmic curated [Cosmic]: lung cosmic_study:417 1q21.2 1 149001697G> C null V L 1219 1219 missense 0.023 benign 0.3 tolerated 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553576885 1q21.2 1 149001702G> A null M I 1220 1220 missense 0.014 benign 0.32 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1410111190 1q21.2 1 149001704T> C null V A 1221 1221 missense 0.023 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781946602 1q21.2 1 149001703G> C null V L 1221 1221 missense 0.023 benign 0.67 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes rs199715014 1q21.2 1 149001706G> A null E K 1222 1222 missense 0.816 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs200651566 1q21.2 1 149001713T> C null V A 1224 1224 missense 0.023 benign 0.77 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782318434 1q21.2 1 149001712G> C null V L 1224 1224 missense 0.237 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782318434 1q21.2 1 149001712G> T null V L 1224 1224 missense 0.237 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782411595 1q21.2 1 149001716T> C null V A 1225 1225 missense 0.009 benign 0.83 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782691901 1q21.2 1 149001715G> A null V I 1225 1225 missense 0.015 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577034 1q21.2 1 149001718A> G null T A 1226 1226 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577070 1q21.2 1 149001721A> G null K E 1227 1227 missense 0.76 possibly damaging 0.46 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs868945968 1q21.2 1 149001727G> T null G C 1229 1229 missense 0.056 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782482499 1q21.2 1 149001728G> A null G D 1229 1229 missense 0.014 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782482499 1q21.2 1 149001728G> T null G V 1229 1229 missense 0.035 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs376801661 1q21.2 1 149001730C> A null L M 1230 1230 missense 0.919 probably damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782451733 1q21.2 1 149001737A> G null E G 1232 1232 missense 0.037 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1173685208 1q21.2 1 149001736G> A null E K 1232 1232 missense 0.563 possibly damaging 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs139068493 1q21.2 1 149001742A> G null S G 1234 1234 missense 0.015 benign 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577221 1q21.2 1 149001745C> T null L F 1235 1235 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577235 1q21.2 1 149001746T> G null L R 1235 1235 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782502294 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149001748C> A null Q K 1236 1236 missense 0.116 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781835380 1q21.2 1 149001749A> G null Q R 1236 1236 missense 0.055 benign 0.71 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587620585 1q21.2 1 149001752C> A null A D 1237 1237 2.0E-4 missense 0.623 possibly damaging 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782738624 1q21.2 1 149001751G> A null A T 1237 1237 missense 0.219 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577278 1q21.2 1 149001755A> G null E G 1238 1238 missense 0.191 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577278 1q21.2 1 149001755A> T null E V 1238 1238 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781910975 1q21.2 1 149001759C> G null F L 1239 1239 missense 0.01 benign 0.91 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577318 1q21.2 1 149001761G> A null R K 1240 1240 missense 0.212 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577336 1q21.2 1 149001763A> G null K E 1241 1241 missense 0.76 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782796781 1q21.2 1 149001764A> T null K M 1241 1241 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782158018 1q21.2 1 149001767T> C null L P 1242 1242 missense 0.383 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577409 1q21.2 1 149001784A> C null N H 1248 1248 missense 0.129 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587726929 1q21.2 1 149001786T> A null N K 1248 1248 3.99E-4 missense 0.136 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587726929 1q21.2 1 149001786T> G null N K 1248 1248 3.99E-4 missense 0.136 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782379725 1q21.2 1 149001785A> G null N S 1248 1248 missense 0.059 benign 0.6 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782328937 1q21.2 1 149001787G> A null A T 1249 1249 missense 0.275 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1437041992 1q21.2 1 149001790C> A null H N 1250 1250 missense 0.331 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782692435 1q21.2 1 149001794A> G null N S 1251 1251 missense 0.039 benign 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs142695497 1q21.2 1 149001799A> C null I L 1253 1253 missense 0.91 probably damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577546 1q21.2 1 149001800T> C null I T 1253 1253 missense 0.986 probably damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs142695497 1q21.2 1 149001799A> G null I V 1253 1253 missense 0.591 possibly damaging 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs377365076 1q21.2 1 149001804C> A null N K 1254 1254 missense 0.175 benign 0.66 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553577560 1q21.2 1 149001803A> G null N S 1254 1254 missense 0.007 benign 0.62 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553577560 1q21.2 1 149001803A> C null N T 1254 1254 missense 0.03 benign 0.57 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782472129 1q21.2 1 149001806T> C null L P 1255 1255 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs147532235 1q21.2 1 149001805C> G null L V 1255 1255 missense 0.342 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1320775775 1q21.2 1 149001811A> G null K E 1257 1257 missense 0.59 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1320775775 1q21.2 1 149001811A> C null K Q 1257 1257 missense 0.703 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781798807 1q21.2 1 149001812A> G null K R 1257 1257 missense 0.049 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1262015105 1q21.2 1 149001814G> C null E Q 1258 1258 missense 0.942 probably damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577685 1q21.2 1 149001817C> T null Q * 1259 1259 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782682082 1q21.2 1 149001819A> C null Q H 1259 1259 missense 0.136 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577685 1q21.2 1 149001817C> A null Q K 1259 1259 missense 0.68 possibly damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs141557192 1q21.2 1 149001820C> T null L F 1260 1260 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs141557192 1q21.2 1 149001820C> G null L V 1260 1260 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781891820 1q21.2 1 149001824T> C null V A 1261 1261 missense 0.023 benign 0.57 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553577735 1q21.2 1 149001823G> T null V L 1261 1261 missense 0.023 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587663838 1q21.2 1 149001827T> C null L P 1262 1262 2.0E-4 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587663838 1q21.2 1 149001827T> A null L Q 1262 1262 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553577823 1q21.2 1 149001831T> G null S R 1263 1263 missense 0.024 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781973906 1q21.2 1 149001833G> T null S I 1264 1264 missense 0.089 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781973906 1q21.2 1 149001833G> C null S T 1264 1264 missense 0.038 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782732955 1q21.2 1 149001836A> G null K R 1265 1265 missense 0.01 benign 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143315999 1q21.2 1 149001842G> C null G A 1267 1267 5.99E-4 missense 0.563 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143315999 1q21.2 1 149001842G> A null G E 1267 1267 5.99E-4 missense 0.135 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782068664 1q21.2 1 149001841G> A null G R 1267 1267 missense 0.135 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1440395811 1q21.2 1 149001846T> A null N K 1268 1268 missense 0.003 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782256751 1q21.2 1 149001848G> A null S N 1269 1269 missense 0.014 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781981115 1q21.2 1 149001849T> G null S R 1269 1269 missense 0.035 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782359662 1q21.2 1 149001850A> G null K E 1270 1270 missense 0.065 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782579665 1q21.2 1 149001857C> T null T I 1272 1272 missense 0.166 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587744750 1q21.2 1 149001864G> C null E D 1274 1274 2.0E-4 missense 0.629 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782517849 1q21.2 1 149001869T> C null L P 1276 1276 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781860456 1q21.2 1 149001871G> A null V M 1277 1277 missense 0.237 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782626869 1q21.2 1 149001875A> G null H R 1278 1278 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578158 1q21.2 1 149001878T> C null L P 1279 1279 missense 0.94 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781808144 1q21.2 1 149001881C> T null T I 1280 1280 missense 0.072 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs201426844 1q21.2 1 149001883A> G null S G 1281 1281 missense 0.003 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578233 1q21.2 1 149001884G> C null S T 1281 1281 missense 0.005 benign 0.45 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578272 1q21.2 1 149001887C> T null T I 1282 1282 missense 0.116 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782091180 cosmic curated [Cosmic]: endometrium cosmic_study:419 1q21.2 1 149001892G> A null E K 1284 1284 missense 0.116 benign 0.06 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782327272 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.2 1 149001907G> T null E * 1289 1289 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782045701 1q21.2 1 149001910C> A null L M 1290 1290 missense 0.16 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782029639 1q21.2 1 149001913G> A null V I 1291 1291 missense 0.015 benign 0.49 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782404284 1q21.2 1 149001917G> A null G D 1292 1292 missense 0.006 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782404284 1q21.2 1 149001917G> T null G V 1292 1292 missense 0.018 benign 0.52 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782370288 1q21.2 1 149001922C> G null P A 1294 1294 missense 0.036 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782216111 1q21.2 1 149001923C> T null P L 1294 1294 missense 0.036 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782370288 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 1q21.2 1 149001922C> T null P S 1294 1294 missense 0.06 benign 0.1 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782370288 1q21.2 1 149001922C> A null P T 1294 1294 missense 0.509 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1185320193 1q21.2 1 149001926G> C null G A 1295 1295 missense 0.127 benign 0.54 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587661413 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 1q21.2 1 149001925G> C null G R 1295 1295 2.0E-4 missense 0.112 benign 0.31 tolerated 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587661413 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 1q21.2 1 149001925G> A null G R 1295 1295 2.0E-4 missense 0.112 benign 0.31 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782671551 1q21.2 1 149001928A> G null K E 1296 1296 missense 0.629 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs781853400 1q21.2 1 149001929A> T null K M 1296 1296 missense 0.5 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782671551 1q21.2 1 149001928A> C null K Q 1296 1296 missense 0.405 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782065523 1q21.2 1 149001933C> A null H Q 1297 1297 missense 0.005 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs373353699 1q21.2 1 149001931C> T null H Y 1297 1297 missense 0.279 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578668 1q21.2 1 149001935A> G null Q R 1298 1298 missense 0.035 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578686 1q21.2 1 149001938A> G null H R 1299 1299 missense 0.006 benign 0.56 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578712 1q21.2 1 149001940C> T null Q * 1300 1300 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578737 1q21.2 1 149001943G> A null E K 1301 1301 missense 0.035 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781784795 1q21.2 1 149001948G> T null E D 1302 1302 missense 0.015 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578768 1q21.2 1 149001947A> G null E G 1302 1302 missense 0.007 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578817 1q21.2 1 149001950G> A null G E 1303 1303 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578802 1q21.2 1 149001949G> C null G R 1303 1303 missense 0.116 benign 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782806141 1q21.2 1 149001953A> G null N S 1304 1304 missense 0.012 benign 0.52 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578832 1q21.2 1 149001952A> T null N Y 1304 1304 missense 0.551 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781999452 1q21.2 1 149001962T> C null V A 1307 1307 missense 0.003 benign 0.76 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782381098 1q21.2 1 149001966G> T null R S 1308 1308 missense 0.104 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140868241 1q21.2 1 149001967C> G null P A 1309 1309 9.98E-4 missense 0.29 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782328422 1q21.2 1 149001968C> A null P H 1309 1309 missense 0.401 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782328422 1q21.2 1 149001968C> T null P L 1309 1309 missense 0.552 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140868241 1q21.2 1 149001967C> A null P T 1309 1309 9.98E-4 missense 0.88 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782685366 1q21.2 1 149001970T> C null F L 1310 1310 missense 0.0 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782685366 1q21.2 1 149001970T> G null F V 1310 1310 missense 0.001 benign 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs150984725 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 1q21.2 1 149001974C> T null P L 1311 1311 missense 0.748 possibly damaging 0.01 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553578954 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149001973C> T null P S 1311 1311 missense 0.1 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782616188 1q21.2 1 149001976A> G null R G 1312 1312 missense 0.034 benign 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782477651 1q21.2 1 149001977G> C null R T 1312 1312 missense 0.219 benign 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553579016 1q21.2 1 149001979C> T null P S 1313 1313 missense 0.155 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782192589 1q21.2 1 149001984G> C null Q H 1314 1314 missense 0.04 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553579042 1q21.2 1 149001983A> G null Q R 1314 1314 missense 0.015 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782578084 1q21.2 1 149001987C> G null S R 1315 1315 missense 0.445 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553579120 1q21.2 1 149001988C> T null L F 1316 1316 missense 0.99 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs147791835 1q21.2 1 149001993C> A null D E 1317 1317 missense 0.014 benign 0.5 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs140312738 1q21.2 1 149002000G> A null A T 1320 1320 3.99E-4 missense 0.014 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781843338 1q21.2 1 149002001C> T null A V 1320 1320 missense 0.035 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed rs375928108 1q21.2 1 149002003A> G null T A 1321 1321 7.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1316471184 1q21.2 1 149002004C> T null T I 1321 1321 missense 0.072 benign 0.48 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587603995 1q21.2 1 149002006T> A null F I 1322 1322 2.0E-4 missense 0.003 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587603995 1q21.2 1 149002006T> C null F L 1322 1322 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782003887 1q21.2 1 149002013T> C null V A 1324 1324 missense 0.021 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553579295 1q21.2 1 149002012G> A null V M 1324 1324 missense 0.72 possibly damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782357477 1q21.2 1 149002018G> A null A T 1326 1326 missense 0.035 benign 0.51 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782796373 1q21.2 1 149002019C> T null A V 1326 1326 missense 0.035 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1165189335 1q21.2 1 149002024C> T null Q * 1328 1328 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782304961 1q21.2 1 149002025A> G null Q R 1328 1328 missense 0.024 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782190211 1q21.2 1 149002851T> C null L S 1329 1329 missense 0.244 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553581635 1q21.2 1 149002855T> A null D E 1330 1330 missense 0.015 benign 0.65 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553581618 1q21.2 1 149002854A> T null D V 1330 1330 missense 0.026 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553581607 1q21.2 1 149002853G> T null D Y 1330 1330 missense 0.55 possibly damaging 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553581651 1q21.2 1 149002857A> G null N S 1331 1331 missense 0.024 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782557723 1q21.2 1 149002859C> G null Q E 1332 1332 missense 0.258 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553581690 1q21.2 1 149002860A> C null Q P 1332 1332 missense 0.015 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782551146 1q21.2 1 149002863C> T null S F 1333 1333 missense 0.816 possibly damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782645024 1q21.2 1 149002871C> T null R C 1336 1336 missense 0.006 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs376549207 cosmic curated [Cosmic]: large_intestine cosmic_study:376 1q21.2 1 149002872G> A null R H 1336 1336 missense 0.01 benign 0.23 tolerated 1 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs376549207 1q21.2 1 149002872G> T null R L 1336 1336 missense 0.005 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782645024 1q21.2 1 149002871C> A null R S 1336 1336 missense 0.007 benign 0.77 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553581797 1q21.2 1 149002875A> T null D V 1337 1337 missense 0.056 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553581765 1q21.2 1 149002874G> T null D Y 1337 1337 missense 0.237 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141944401 1q21.2 1 149002877C> G null P A 1338 1338 0.002196 missense 0.01 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553581865 1q21.2 1 149002881G> A null G E 1339 1339 missense 0.059 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs142008389 1q21.2 1 149002880G> C null G R 1339 1339 missense 0.024 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782150872 1q21.2 1 149002884C> T null P L 1340 1340 missense 0.026 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782818522 1q21.2 1 149002883C> T null P S 1340 1340 missense 0.026 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782005441 1q21.2 1 149002886C> T null Q * 1341 1341 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782101891 1q21.2 1 149002890C> T null S L 1342 1342 missense 0.009 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs2762877 1q21.2 1 149002889T> C null S P 1342 1342 0.07069 missense 0.009 benign 0.39 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781931608 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q21.2 1 149002893C> T null A V 1343 1343 missense 0.02 benign 0.03 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553581978 1q21.2 1 149002900C> A null S R 1345 1345 missense 0.024 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782017992 1q21.2 1 149002902T> C null L P 1346 1346 missense 0.089 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs200626514 1q21.2 1 149002908G> C null G A 1348 1348 2.0E-4 missense 0.405 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs200626514 1q21.2 1 149002908G> A null G E 1348 1348 2.0E-4 missense 0.796 possibly damaging 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs200626514 1q21.2 1 149002908G> T null G V 1348 1348 2.0E-4 missense 0.17 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782613753 1q21.2 1 149002911C> T null S F 1349 1349 missense 0.715 possibly damaging 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553582053 1q21.2 1 149002913A> G null T A 1350 1350 missense 0.034 benign 0.51 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553582067 1q21.2 1 149002914C> T null T I 1350 1350 missense 0.219 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553582082 1q21.2 1 149002916C> T null Q * 1351 1351 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs782198403 1q21.2 1 149002917A> C null Q P 1351 1351 missense 0.202 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs782198403 1q21.2 1 149002917A> G null Q R 1351 1351 missense 0.007 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs201693068 1q21.2 1 149002923T> C null L P 1353 1353 missense 0.65 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1445272172 1q21.2 1 149002922C> G null L V 1353 1353 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs138083036 1q21.2 1 149002925C> T null R C 1354 1354 missense 0.06 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587757882 cosmic curated [Cosmic]: large_intestine cosmic_study:376 1q21.2 1 149002926G> A null R H 1354 1354 5.99E-4 missense 0.099 benign 0.16 tolerated 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587757882 1q21.2 1 149002926G> T null R L 1354 1354 5.99E-4 missense 0.161 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782044012 1q21.2 1 149002929C> T null S F 1355 1355 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782044012 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149002929C> A null S Y 1355 1355 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782784757 1q21.2 1 149002931C> G null Q E 1356 1356 missense 0.784 possibly damaging 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs371552977 1q21.2 1 149002933G> C null Q H 1356 1356 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782129346 1q21.2 1 149002932A> G null Q R 1356 1356 missense 0.856 possibly damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782208421 1q21.2 1 149002938C> G null S * 1358 1358 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587618483 1q21.2 1 149002937T> A null S T 1358 1358 2.0E-4 missense 0.005 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782296611 1q21.2 1 149002942A> T null Q H 1359 1359 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781932309 1q21.2 1 149002941A> G null Q R 1359 1359 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553582504 1q21.2 1 149002947A> T null K I 1361 1361 missense 0.665 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587745208 1q21.2 1 149002948A> T null K N 1361 1361 2.0E-4 missense 0.231 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782514024 1q21.2 1 149002949C> A null Q K 1362 1362 missense 0.138 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141315681 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q21.2 1 149002952C> T null R C 1363 1363 3.99E-4 missense 0.094 benign 0.02 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782619085 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:376,cosmic_study:452 1q21.2 1 149002953G> A null R H 1363 1363 missense 0.041 benign 0.12 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782619085 1q21.2 1 149002953G> T null R L 1363 1363 missense 0.286 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs367810691 1q21.2 1 149002956A> G null Y C 1364 1364 missense 0.051 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553582664 1q21.2 1 149002955T> C null Y H 1364 1364 missense 0.944 probably damaging 0.41 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1553582731 1q21.2 1 149002960A> T null Q H 1365 1365 missense 0.799 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587628882 1q21.2 1 149002959A> T null Q L 1365 1365 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587628882 1q21.2 1 149002959A> G null Q R 1365 1365 2.0E-4 missense 0.619 possibly damaging 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587735231 1q21.2 1 149002961G> T null D Y 1366 1366 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781869324 1q21.2 1 149002964C> T null L F 1367 1367 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1204969863 1q21.2 1 149002967C> A null Q K 1368 1368 missense 0.86 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553582819 1q21.2 1 149002973A> C null K Q 1370 1370 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553582861 1q21.2 1 149002976C> G null L V 1371 1371 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553582890 1q21.2 1 149002982C> G null L V 1373 1373 missense 0.007 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782040760 1q21.2 1 149002986C> T null S L 1374 1374 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782056860 1q21.2 1 149002985T> A null S T 1374 1374 missense 0.821 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782407920 1q21.2 1 149002988G> A null E K 1375 1375 missense 0.929 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553583017 1q21.2 1 149002991G> C null A P 1376 1376 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553583017 1q21.2 1 149002991G> T null A S 1376 1376 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs797031303 1q21.2 1 149002997G> A null V I 1378 1378 missense 0.174 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553583125 1q21.2 1 149003004C> A null A D 1380 1380 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs147815016 1q21.2 1 149003009G> T null A S 1382 1382 missense 0.867 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs147815016 1q21.2 1 149003009G> A null A T 1382 1382 missense 0.967 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781984698 1q21.2 1 149003010C> T null A V 1382 1382 missense 0.867 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150932980 1q21.2 1 149003014C> G null N K 1383 1383 5.99E-4 missense 0.125 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs373251040 1q21.2 1 149003015G> A null E K 1384 1384 missense 0.015 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553583320 1q21.2 1 149003021G> C null E Q 1386 1386 missense 0.88 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782657543 1q21.2 1 149003025A> C null K T 1387 1387 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782705584 1q21.2 1 149003029_149003030de l null Y * 1388 1388 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782495042 1q21.2 1 149003028A> G null Y C 1388 1388 missense 0.17 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1333747350 1q21.2 1 149003030A> G null R G 1389 1389 missense 0.087 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs370838321 1q21.2 1 149003033G> C null V L 1390 1390 missense 0.036 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781876555 1q21.2 1 149003038G> A null M I 1391 1391 missense 0.003 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782152203 1q21.2 1 149003037T> A null M K 1391 1391 missense 0.006 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs148809296 1q21.2 1 149003036A> T null M L 1391 1391 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782152203 1q21.2 1 149003037T> G null M R 1391 1391 missense 0.166 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782152203 1q21.2 1 149003037T> C null M T 1391 1391 missense 0.116 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs148809296 1q21.2 1 149003036A> G null M V 1391 1391 missense 0.003 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782785438 1q21.2 1 149003039C> T null L F 1392 1392 missense 0.054 benign 0.41 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1156539393 1q21.2 1 149003040T> C null L P 1392 1392 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782101566 1q21.2 1 149003042A> T null S C 1393 1393 missense 0.097 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782101566 1q21.2 1 149003042A> G null S G 1393 1393 missense 0.025 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782524072 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149003614G> T null S I 1393 1393 missense 0.539 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782524072 1q21.2 1 149003614G> A null S N 1393 1393 missense 0.108 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782524072 1q21.2 1 149003614G> C null S T 1393 1393 missense 0.015 benign 0.94 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782756231 1q21.2 1 149003622T> G null L V 1396 1396 missense 0.04 benign 0.53 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553585892 1q21.2 1 149003626T> A null V E 1397 1397 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553585874 1q21.2 1 149003625G> T null V L 1397 1397 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782481999 1q21.2 1 149003629A> G null K R 1398 1398 missense 0.146 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs781822795 1q21.2 1 149003635A> G null D G 1400 1400 missense 0.88 possibly damaging 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553585967 1q21.2 1 149003634G> C null D H 1400 1400 missense 0.552 possibly damaging 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs6671551 1q21.2 1 149003638G> A null S N 1401 1401 missense 0.258 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs12568796 1q21.2 1 149003640A> G null K E 1402 1402 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782810690 1q21.2 1 149003642G> C null K N 1402 1402 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782129872 1q21.2 1 149003643C> A null Q K 1403 1403 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs375597973 1q21.2 1 149003644A> G null Q R 1403 1403 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553586199 1q21.2 1 149003651G> T null Q H 1405 1405 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782287561 1q21.2 1 149003650A> G null Q R 1405 1405 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,TOPMed rs1747960 1q21.2 1 149003658C> T null L F 1408 1408 missense 0.681 possibly damaging 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553586315 1q21.2 1 149003667C> G null L V 1411 1411 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781941246 1q21.2 1 149003670G> A null G S 1412 1412 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782316786 1q21.2 1 149003674A> G null Y C 1413 1413 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs782294188 1q21.2 1 149003680C> T null T I 1415 1415 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1297918517 1q21.2 1 149003684T> G null C W 1416 1416 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1405966200 1q21.2 1 149003685G> T null G C 1417 1417 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1393429927 1q21.2 1 149003686G> A null G D 1417 1417 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587653191 1q21.2 1 149003688C> T null R * 1418 1418 2.0E-4 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782729122 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149003689G> A null R Q 1418 1418 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587601326 1q21.2 1 149003691A> G null S G 1419 1419 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376696017 1q21.2 1 149003693C> G null S R 1419 1419 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782525878 1q21.2 1 149003696G> C null E D 1420 1420 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1173053585 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q21.2 1 149003694G> A null E K 1420 1420 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin TOPMed rs1423224195 1q21.2 1 149003697A> G null N D 1421 1421 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553586709 1q21.2 1 149003699T> A null N K 1421 1421 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781875057 1q21.2 1 149003698A> C null N T 1421 1421 missense 0.843 possibly damaging 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1199798795 1q21.2 1 149003701A> C null E A 1422 1422 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,gnomAD rs201075170 1q21.2 1 149003704C> A null A D 1423 1423 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,gnomAD rs201075170 1q21.2 1 149003704C> T null A V 1423 1423 missense 0.932 probably damaging 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782756193 1q21.2 1 149003706G> A null E K 1424 1424 missense 0.863 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587764830 1q21.2 1 149003710G> T null R L 1425 1425 2.0E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587764830 1q21.2 1 149003710G> C null R P 1425 1425 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587764830 1q21.2 1 149003710G> A null R Q 1425 1425 2.0E-4 missense 0.729 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587646978 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149003709C> T null R W 1425 1425 5.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782040522 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149003712G> A null E K 1426 1426 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782386056 1q21.2 1 149003713A> T null E V 1426 1426 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553586890 1q21.2 1 149003724A> G null S G 1430 1430 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553586906 1q21.2 1 149003725G> A null S N 1430 1430 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781963144 1q21.2 1 149003726T> A null S R 1430 1430 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553586951 1q21.2 1 149003727C> A null P T 1431 1431 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1283531838 1q21.2 1 149003730G> A null E K 1432 1432 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782390854 1q21.2 1 149004912G> T null C F 1433 1433 missense 0.934 probably damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1291818338 cosmic curated [Cosmic]: cervix, [Cosmic]: lung cosmic_study:415,cosmic_study:417,cosmic_study:418 1q21.2 1 149004911T> C null C R 1433 1433 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1291818338 1q21.2 1 149004911T> A null C S 1433 1433 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782390854 1q21.2 1 149004912G> A null C Y 1433 1433 missense 0.96 probably damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587660380 1q21.2 1 149004917G> A null E K 1435 1435 2.0E-4 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1460990852 1q21.2 1 149004922C> A null H Q 1436 1436 missense 0.026 benign 0.37 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553591184 1q21.2 1 149004920C> T null H Y 1436 1436 missense 0.766 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1401229181 1q21.2 1 149004924A> G null N S 1437 1437 missense 0.01 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1401229181 1q21.2 1 149004924A> C null N T 1437 1437 missense 0.116 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782444926 1q21.2 1 149004928C> A null S R 1438 1438 missense 0.724 possibly damaging 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782175882 cosmic curated [Cosmic]: prostate, [Cosmic]: NS pubmed:22622578,cosmic_study:388,cosmic_study:435 1q21.2 1 149004930T> C null L P 1439 1439 missense 0.057 benign 0.09 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782175882 1q21.2 1 149004930T> G null L R 1439 1439 missense 0.919 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553591359 1q21.2 1 149004938A> T null M L 1442 1442 missense 0.0 benign 0.88 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553591359 1q21.2 1 149004938A> G null M V 1442 1442 missense 0.003 benign 0.89 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781865437 1q21.2 1 149004941G> A null V I 1443 1443 missense 0.009 benign 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782775135 1q21.2 1 149004945T> C null L P 1444 1444 missense 0.071 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1199335173 1q21.2 1 149004949G> A null M I 1445 1445 missense 0.017 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782492102 1q21.2 1 149004950G> A null E K 1446 1446 missense 0.958 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781826749 1q21.2 1 149004953G> A null G R 1447 1447 missense 0.083 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782040934 1q21.2 1 149004957T> C null L P 1448 1448 missense 0.275 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1457870605 1q21.2 1 149004961C> G null C W 1449 1449 missense 0.786 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782133622 1q21.2 1 149004960G> A null C Y 1449 1449 missense 0.051 benign 0.53 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781962243 1q21.2 1 149004962T> G null S A 1450 1450 missense 0.039 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587644231 1q21.2 1 149004963C> T null S F 1450 1450 2.0E-4 missense 0.094 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781915831 1q21.2 1 149004967G> C null E D 1451 1451 missense 0.009 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782190013 1q21.2 1 149004965G> A null E K 1451 1451 missense 0.009 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782417405 1q21.2 1 149004971G> A null G R 1453 1453 missense 0.159 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371765233 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149004974C> T null R C 1454 1454 2.0E-4 missense 0.006 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143610603 1q21.2 1 149004975G> A null R H 1454 1454 0.00599 missense 0.006 benign 0.56 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782229138 1q21.2 1 149004977C> G null R G 1455 1455 missense 0.13 benign 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587626775 1q21.2 1 149004978G> A null R Q 1455 1455 2.0E-4 missense 0.005 benign 0.54 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782229138 1q21.2 1 149004977C> T null R W 1455 1455 missense 0.006 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs372388444 1q21.2 1 149004981G> T null G V 1456 1456 2.0E-4 missense 0.528 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781792713 1q21.2 1 149004986A> G null T A 1458 1458 missense 0.003 benign 0.84 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113467089 1q21.2 1 149004987C> G null T R 1458 1458 0.04293 missense 0.39 benign 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781873550 1q21.2 1 149004990T> C null L P 1459 1459 missense 0.024 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782075657 1q21.2 1 149004992G> T null A S 1460 1460 missense 0.024 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782075657 1q21.2 1 149004992G> A null A T 1460 1460 missense 0.014 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782693533 1q21.2 1 149004996G> T null S I 1461 1461 missense 0.614 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782693533 1q21.2 1 149004996G> A null S N 1461 1461 missense 0.328 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782160365 1q21.2 1 149004997T> A null S R 1461 1461 missense 0.035 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782016251 1q21.2 1 149004999C> T null S F 1462 1462 missense 0.01 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553592099 1q21.2 1 149005013C> G null P A 1467 1467 missense 0.07 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1464222421 1q21.2 1 149005018G> C null L F 1468 1468 missense 0.056 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1172877838 1q21.2 1 149005020A> C null E A 1469 1469 missense 0.177 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553592208 1q21.2 1 149005024C> G null N K 1470 1470 missense 0.003 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782110908 1q21.2 1 149005025C> T null Q * 1471 1471 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782110908 1q21.2 1 149005025C> G null Q E 1471 1471 missense 0.177 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782110908 1q21.2 1 149005025C> A null Q K 1471 1471 missense 0.01 benign 0.66 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781964629 1q21.2 1 149005026A> G null Q R 1471 1471 missense 0.01 benign 0.67 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782195058 1q21.2 1 149005031G> A null G R 1473 1473 missense 0.023 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782195058 1q21.2 1 149005031G> C null G R 1473 1473 missense 0.023 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553592311 1q21.2 1 149005036G> T null K N 1474 1474 missense 0.038 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553592289 1q21.2 1 149005035A> G null K R 1474 1474 missense 0.038 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782571254 1q21.2 1 149005037C> G null Q E 1475 1475 missense 0.009 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1439738842 1q21.2 1 149005041A> G null E G 1476 1476 missense 0.009 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782424563 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149005040G> A null E K 1476 1476 missense 0.009 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553592406 1q21.2 1 149005044A> G null E G 1477 1477 missense 0.014 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782287603 1q21.2 1 149005043G> A null E K 1477 1477 missense 0.035 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782501409 cosmic curated [Cosmic]: ovary pubmed:20826764,cosmic_study:335 1q21.2 1 149005050G> A null R Q 1479 1479 missense 0.001 benign 1.0 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782657872 1q21.2 1 149005049C> T null R W 1479 1479 missense 0.797 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782572334 1q21.2 1 149005052G> A null V I 1480 1480 missense 0.116 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782572334 1q21.2 1 149005052G> T null V L 1480 1480 missense 0.04 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782441778 1q21.2 1 149005056A> G null Y C 1481 1481 missense 0.038 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782794411 1q21.2 1 149005059G> C null G A 1482 1482 missense 0.843 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782794411 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149005059G> A null G E 1482 1482 missense 0.95 probably damaging 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553592591 1q21.2 1 149005067G> T null E * 1485 1485 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781855882 1q21.2 1 149005073A> G null I V 1487 1487 missense 0.006 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1355076675 1q21.2 1 149005078G> T null L F 1488 1488 missense 0.348 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1355076675 1q21.2 1 149005078G> C null L F 1488 1488 missense 0.348 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1234265719 1q21.2 1 149005077T> C null L S 1488 1488 missense 0.001 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781943795 1q21.2 1 149005079G> T null V F 1489 1489 missense 0.72 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781943795 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149005079G> A null V I 1489 1489 missense 0.021 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587614214 cosmic curated [Cosmic]: kidney cosmic_study:416 1q21.2 1 149005085C> T null R * 1491 1491 9.98E-4 missense 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151134727 1q21.2 1 149005086G> T null R L 1491 1491 0.001398 missense 0.375 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151134727 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149005086G> A null R Q 1491 1491 0.001398 missense 0.007 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781977872 1q21.2 1 149005089A> C null K T 1492 1492 missense 0.768 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782320529 1q21.2 1 149005092A> G null D G 1493 1493 missense 0.55 possibly damaging 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782686839 1q21.2 1 149005094A> G null I V 1494 1494 missense 0.7 possibly damaging 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1747958 pubmed:17974005 1q21.2 1 149005097A> G null K E 1495 1495 missense 0.175 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782632729 1q21.2 1 149005098A> G null K R 1495 1495 missense 0.003 benign 0.61 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781825251 1q21.2 1 149005102T> A null D E 1496 1496 missense 0.035 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781825251 1q21.2 1 149005102T> G null D E 1496 1496 missense 0.035 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559277263 1q21.2 1 149005101A> G null D G 1496 1496 missense 0.634 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782717013 cosmic curated [Cosmic]: lung cosmic_study:418 1q21.2 1 149005103C> A null L M 1497 1497 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781904302 1q21.2 1 149005107A> G null K R 1498 1498 missense 0.839 possibly damaging 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782132254 1q21.2 1 149005110C> G null A G 1499 1499 missense 0.078 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782132254 1q21.2 1 149005110C> T null A V 1499 1499 missense 0.078 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782752573 1q21.2 1 149005115C> A null L M 1501 1501 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782090672 1q21.2 1 149005116T> C null L P 1501 1501 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559277684 1q21.2 1 149005118C> T null Q * 1502 1502 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782412399 1q21.2 1 149005119A> G null Q R 1502 1502 missense 0.322 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs201569095 1q21.2 1 149005125C> T null A V 1504 1504 5.99E-4 missense 0.912 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781996804 1q21.2 1 149005127A> C null N H 1505 1505 missense 0.078 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782376117 1q21.2 1 149005128A> G null N S 1505 1505 missense 0.127 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553593200 1q21.2 1 149005132G> T null K N 1506 1506 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs145959230 1q21.2 1 149005133G> A null V I 1507 1507 missense 0.134 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782454565 1q21.2 1 149005139C> G null Q E 1509 1509 missense 0.76 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs139264748 1q21.2 1 149005141A> C null Q H 1509 1509 missense 0.278 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553593283 1q21.2 1 149005145C> T null L F 1511 1511 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1469193519 1q21.2 1 149005146T> A null L H 1511 1511 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782531555 1q21.2 1 149005148A> G null K E 1512 1512 missense 0.345 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781877194 1q21.2 1 149005151A> G null S G 1513 1513 missense 0.629 possibly damaging 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587725926 1q21.2 1 149005155G> A null R Q 1514 1514 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782759855 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149005154C> T null R W 1514 1514 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553593409 1q21.2 1 149005157G> A null V I 1515 1515 missense 0.052 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371331495 1q21.2 1 149005160C> G null R G 1516 1516 2.0E-4 missense 0.7 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1210658007 1q21.2 1 149005161G> C null R P 1516 1516 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1210658007 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149005161G> A null R Q 1516 1516 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371331495 cosmic curated [Cosmic]: pancreas cosmic_study:382 1q21.2 1 149005160C> T null R W 1516 1516 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin Ensembl rs868963033 1q21.2 1 149005164C> T null S F 1517 1517 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782015629 1q21.2 1 149005166C> T null L F 1518 1518 missense 0.289 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782015629 1q21.2 1 149005166C> G null L V 1518 1518 missense 0.435 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1288801467 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 1q21.2 1 149005170C> T null S L 1519 1519 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782787551 1q21.2 1 149005178A> G null S G 1522 1522 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs376391433 1q21.2 1 149005181G> A null D N 1523 1523 5.99E-4 missense 0.592 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs111767290 1q21.2 1 149005184T> G null Y D 1524 1524 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs111767290 1q21.2 1 149005184T> C null Y H 1524 1524 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782066972 cosmic curated [Cosmic]: breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:328,cosmic_study:414 1q21.2 1 149005188C> T null S L 1525 1525 missense 0.899 possibly damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782419442 1q21.2 1 149005193A> T null S C 1527 1527 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782282950 1q21.2 1 149005194G> T null S I 1527 1527 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782643474 1q21.2 1 149005200A> C null E A 1529 1529 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553593823 1q21.2 1 149005199G> C null E Q 1529 1529 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782384407 1q21.2 1 149005203G> A null R K 1530 1530 missense 0.956 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1353819976 1q21.2 1 149005206C> A null P H 1531 1531 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587764317 1q21.2 1 149005205C> T null P S 1531 1531 2.0E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587764317 1q21.2 1 149005205C> A null P T 1531 1531 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782516582 1q21.2 1 149005209G> A null R Q 1532 1532 missense 0.042 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs2798901 1q21.2 1 149005208C> T null R W 1532 1532 0.2899 missense 0.9 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553594026 1q21.2 1 149005215T> G null L R 1534 1534 missense 0.451 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553594051 1q21.2 1 149005218G> C null R T 1535 1535 missense 0.231 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781804733 1q21.2 1 149005220G> A null A T 1536 1536 missense 0.094 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs374608383 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149005221C> T null A V 1536 1536 missense 0.056 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782167595 1q21.2 1 149005223G> A null V I 1537 1537 missense 0.01 benign 0.5 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553594176 1q21.2 1 149005227G> C null G A 1538 1538 missense 0.023 benign 0.42 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs181138386 1q21.2 1 149005230C> T null T I 1539 1539 5.99E-4 missense 0.026 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs181138386 1q21.2 1 149005230C> A null T N 1539 1539 5.99E-4 missense 0.703 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs181138386 1q21.2 1 149005230C> G null T S 1539 1539 5.99E-4 missense 0.258 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781974589 1q21.2 1 149005234G> C null L F 1540 1540 missense 0.854 possibly damaging 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782200497 1q21.2 1 149005237G> C null E D 1541 1541 missense 0.038 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1416723878 1q21.2 1 149005235G> A null E K 1541 1541 missense 0.038 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553594329 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149005239G> A null G E 1542 1542 missense 0.796 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782534916 1q21.2 1 149005238G> C null G R 1542 1542 missense 0.919 probably damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782259692 1q21.2 1 149005242C> G null S C 1543 1543 missense 0.17 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782627924 1q21.2 1 149005245C> A null S * 1544 1544 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1265972327 1q21.2 1 149005248C> T null P L 1545 1545 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1478388313 1q21.2 1 149005247C> T null P S 1545 1545 missense 0.435 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs370045344 1q21.2 1 149005250C> T null H Y 1546 1546 missense 0.918 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587744111 1q21.2 1 149005254G> C null S T 1547 1547 5.99E-4 missense 0.958 probably damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1446481453 1q21.2 1 149005257T> C null V A 1548 1548 missense 0.007 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782593627 1q21.2 1 149005256G> A null V I 1548 1548 missense 0.015 benign 0.48 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782593627 1q21.2 1 149005256G> C null V L 1548 1548 missense 0.012 benign 0.95 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553594492 1q21.2 1 149005260C> T null P L 1549 1549 missense 0.005 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782431035 1q21.2 1 149005263A> C null D A 1550 1550 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143603894 cosmic curated [Cosmic]: kidney pubmed:23797736,cosmic_study:494 1q21.2 1 149005264T> A null D E 1550 1550 2.0E-4 missense 0.998 probably damaging 0.07 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782431035 1q21.2 1 149005263A> G null D G 1550 1550 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs143507068 1q21.2 1 149005268G> A null D N 1552 1552 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs781862194 1q21.2 1 149005272A> C null E A 1553 1553 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782086919 1q21.2 1 149005279G> T null W C 1555 1555 missense 0.93 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782719339 1q21.2 1 149005280C> G null L V 1556 1556 missense 0.941 probably damaging 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs760958304 1q21.2 1 149005293C> T null T I 1560 1560 missense 0.795 possibly damaging 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs760958304 1q21.2 1 149005293C> G null T S 1560 1560 missense 0.831 possibly damaging 0.41 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs145464352 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149005296G> A null G E 1561 1561 missense 0.974 probably damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782370912 1q21.2 1 149005298G> A null A T 1562 1562 missense 0.491 possibly damaging 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781951969 1q21.2 1 149005305A> G null Y C 1564 1564 missense 0.01 benign 0.6 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs373229564 1q21.2 1 149005304T> C null Y H 1564 1564 missense 0.917 probably damaging 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782175392 1q21.2 1 149005307T> C null S P 1565 1565 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782175392 1q21.2 1 149005307T> A null S T 1565 1565 missense 0.006 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs773042874 1q21.2 1 149005310C> G null P A 1566 1566 missense 0.877 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs773042874 1q21.2 1 149005310C> T null P S 1566 1566 missense 0.519 possibly damaging 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782261257 1q21.2 1 149005314G> A null G E 1567 1567 missense 0.056 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553594937 1q21.2 1 149005320A> C null Q P 1569 1569 missense 0.204 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553594972 1q21.2 1 149005322G> A null A T 1570 1570 missense 0.951 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1393263011 1q21.2 1 149005323C> T null A V 1570 1570 missense 0.955 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782722694 1q21.2 1 149005326A> G null K R 1571 1571 missense 0.014 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781881123 1q21.2 1 149005330G> T null K N 1572 1572 missense 0.708 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782438529 1q21.2 1 149005328A> C null K Q 1572 1572 missense 0.631 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs868909843 1q21.2 1 149005329A> G null K R 1572 1572 missense 0.021 benign 0.55 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553595146 1q21.2 1 149005333C> G null D E 1573 1573 missense 0.275 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782107735 1q21.2 1 149005332A> G null D G 1573 1573 missense 0.383 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782764073 1q21.2 1 149005331G> T null D Y 1573 1573 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs200826461 1q21.2 1 149005337G> A null E K 1575 1575 missense 0.212 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs369326004 1q21.2 1 149005341G> A null S N 1576 1576 missense 0.026 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs369326004 1q21.2 1 149005341G> C null S T 1576 1576 missense 0.258 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553595214 1q21.2 1 149005344T> C null L P 1577 1577 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781919391 1q21.2 1 149005350A> G null Q R 1579 1579 missense 0.057 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782433958 1q21.2 1 149005353G> A null R K 1580 1580 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782433958 1q21.2 1 149005353G> C null R T 1580 1580 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs377245753 1q21.2 1 149005358T> G null S A 1582 1582 missense 0.121 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs377245753 1q21.2 1 149005358T> C null S P 1582 1582 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes rs587612141 1q21.2 1 149005361C> T null Q * 1583 1583 2.0E-4 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587707637 1q21.2 1 149005365T> C null L P 1584 1584 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553595398 1q21.2 1 149005370G> A null A T 1586 1586 missense 0.983 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1199549980 1q21.2 1 149005371C> T null A V 1586 1586 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782371214 1q21.2 1 149005375G> C null Q H 1587 1587 missense 0.839 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587658555 1q21.2 1 149005376C> A null L I 1588 1588 2.0E-4 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587658555 1q21.2 1 149005376C> G null L V 1588 1588 2.0E-4 missense 0.823 possibly damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782188338 1q21.2 1 149005380C> T null P L 1589 1589 missense 0.17 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782188338 1q21.2 1 149005380C> G null P R 1589 1589 missense 0.919 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782458379 1q21.2 1 149005379C> T null P S 1589 1589 missense 0.313 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs1778120 1q21.2 1 149005382A> G null K E 1590 1590 missense 0.158 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553595558 1q21.2 1 149005384A> T null K N 1590 1590 missense 0.841 possibly damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553595529 1q21.2 1 149005383A> C null K T 1590 1590 missense 0.219 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs200740502 1q21.2 1 149005385A> G null N D 1591 1591 3.99E-4 missense 0.051 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781846785 1q21.2 1 149005387T> G null N K 1591 1591 missense 0.014 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs200740502 1q21.2 1 149005385A> T null N Y 1591 1591 3.99E-4 missense 0.348 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782754920 1q21.2 1 149005389G> A null G E 1592 1592 missense 0.244 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782754920 1q21.2 1 149005389G> T null G V 1592 1592 missense 0.939 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1270575174 1q21.2 1 149005392T> C null L P 1593 1593 missense 0.015 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553595673 1q21.2 1 149005400A> G null K E 1596 1596 missense 0.328 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782459175 1q21.2 1 149005402G> C null K N 1596 1596 missense 0.614 possibly damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782166494 1q21.2 1 149005406G> C null A P 1598 1598 missense 0.048 benign 0.65 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782166494 1q21.2 1 149005406G> A null A T 1598 1598 missense 0.127 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1213779441 1q21.2 1 149005412G> T null E * 1600 1600 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs137872268 1q21.2 1 149005418A> T null R * 1602 1602 0.005192 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs137872268 1q21.2 1 149005418A> G null R G 1602 1602 0.005192 missense 0.832 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1438075720 1q21.2 1 149005420A> T null R S 1602 1602 missense 0.777 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553595781 1q21.2 1 149005425C> A null A D 1604 1604 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782346561 1q21.2 1 149005428C> T null S L 1605 1605 missense 0.453 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782346561 1q21.2 1 149005428C> G null S W 1605 1605 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,TOPMed,gnomAD rs373140754 1q21.2 1 149005433C> T null P S 1607 1607 missense 0.908 possibly damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs868945839 1q21.2 1 149005437G> A null G E 1608 1608 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1168691850 1q21.2 1 149005436G> A null G R 1608 1608 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587746082 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22842228,cosmic_study:511 1q21.2 1 149007212C> T null S F 1612 1612 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587746082 1q21.2 1 149007212C> A null S Y 1612 1612 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782800761 1q21.2 1 149007215T> C null L P 1613 1613 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781914940 1q21.2 1 149007214C> G null L V 1613 1613 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs148523430 1q21.2 1 149007217A> T null I F 1614 1614 3.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs148523430 1q21.2 1 149007217A> G null I V 1614 1614 3.99E-4 missense 0.843 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600026 1q21.2 1 149007221A> T null Q L 1615 1615 missense 0.929 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1433852289 1q21.2 1 149007227A> T null Q L 1617 1617 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782376719 1q21.2 1 149007233G> A null R Q 1619 1619 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781998818 1q21.2 1 149007232C> T null R W 1619 1619 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600104 1q21.2 1 149007236A> G null E G 1620 1620 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781959721 1q21.2 1 149007242C> G null S C 1622 1622 missense 0.501 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782333717 1q21.2 1 149007245A> C null Y S 1623 1623 missense 0.065 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782180527 1q21.2 1 149007247C> A null L I 1624 1624 missense 0.832 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587759427 1q21.2 1 149007248T> C null L P 1624 1624 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587759427 1q21.2 1 149007248T> G null L R 1624 1624 2.0E-4 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553600297 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149007251G> A null R Q 1625 1625 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs140637862 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 1q21.2 1 149007250C> T null R W 1625 1625 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600345 1q21.2 1 149007255A> C null Q H 1626 1626 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600363 1q21.2 1 149007258A> T null K N 1627 1627 missense 0.125 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559295102 1q21.2 1 149007260T> C null I T 1628 1628 missense 0.065 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587676306 1q21.2 1 149007259A> G null I V 1628 1628 3.99E-4 missense 0.039 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782462673 1q21.2 1 149007262C> T null R * 1629 1629 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782462673 1q21.2 1 149007262C> G null R G 1629 1629 missense 0.647 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781801783 1q21.2 1 149007263G> T null R L 1629 1629 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781801783 1q21.2 1 149007263G> A null R Q 1629 1629 missense 0.766 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782549206 1q21.2 1 149007266A> G null E G 1630 1630 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781883662 1q21.2 1 149007269G> A null G E 1631 1631 missense 0.689 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782111540 1q21.2 1 149007275G> A null G D 1633 1633 missense 0.556 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600405 1q21.2 1 149007274G> A null G S 1633 1633 missense 0.8 possibly damaging 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782111540 1q21.2 1 149007275G> T null G V 1633 1633 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600432 1q21.2 1 149007278T> C null I T 1634 1634 missense 0.83 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559295436 1q21.2 1 149007277A> G null I V 1634 1634 missense 0.146 benign 0.88 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782731871 1q21.2 1 149007284A> G null Y C 1636 1636 missense 0.161 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782731871 1q21.2 1 149007284A> T null Y F 1636 1636 missense 0.935 probably damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781925415 1q21.2 1 149007287T> C null L P 1637 1637 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782072099 1q21.2 1 149007286C> G null L V 1637 1637 missense 0.718 possibly damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs4084023 1q21.2 1 149007289A> C null I L 1638 1638 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782428459 1q21.2 1 149007290T> C null I T 1638 1638 missense 0.01 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782006332 1q21.2 1 149007293C> T null T I 1639 1639 missense 0.089 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782006332 1q21.2 1 149007293C> A null T N 1639 1639 missense 0.237 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782006332 1q21.2 1 149007293C> G null T S 1639 1639 missense 0.065 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs2762875 1q21.2 1 149007296G> A null R Q 1640 1640 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587625919 1q21.2 1 149007295C> T null R W 1640 1640 2.0E-4 missense 0.237 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600547 cosmic curated [Cosmic]: oesophagus cosmic_study:582 1q21.2 1 149007298C> A null H N 1641 1641 missense 0.951 probably damaging 0.11 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782687367 1q21.2 1 149007301G> A null A T 1642 1642 missense 0.026 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600558 1q21.2 1 149007302C> T null A V 1642 1642 missense 0.015 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782497552 1q21.2 1 149007307G> C null D H 1644 1644 missense 0.735 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1289038648 1q21.2 1 149007308A> T null D V 1644 1644 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782497552 1q21.2 1 149007307G> T null D Y 1644 1644 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600577 1q21.2 1 149007310A> G null T A 1645 1645 missense 0.048 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781872767 1q21.2 1 149007311C> T null T I 1645 1645 missense 0.893 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781872767 1q21.2 1 149007311C> G null T R 1645 1645 missense 0.17 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559296191 1q21.2 1 149007313G> T null V L 1646 1646 missense 0.039 benign 0.46 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782495437 1q21.2 1 149007320C> G null S C 1648 1648 missense 0.916 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782495437 1q21.2 1 149007320C> T null S F 1648 1648 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600632 1q21.2 1 149007323T> C null F S 1649 1649 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781787673 1q21.2 1 149007327G> C null E D 1650 1650 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600650 1q21.2 1 149007329A> G null D G 1651 1651 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782711559 1q21.2 1 149007335T> A null L Q 1653 1653 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782711559 1q21.2 1 149007335T> G null L R 1653 1653 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600680 1q21.2 1 149007341G> A null S N 1655 1655 missense 0.118 benign 0.36 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587696018 1q21.2 1 149007345T> A null N K 1656 1656 2.0E-4 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782754640 1q21.2 1 149007344A> G null N S 1656 1656 missense 0.804 possibly damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782311969 1q21.2 1 149007347A> C null D A 1657 1657 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782311969 1q21.2 1 149007347A> G null D G 1657 1657 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782311969 1q21.2 1 149007347A> T null D V 1657 1657 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600704 1q21.2 1 149007349A> G null I V 1658 1658 missense 0.832 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs377209988 1q21.2 1 149007356A> G null Y C 1660 1660 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs200863056 1q21.2 1 149007361C> A null L M 1662 1662 2.0E-4 missense 0.908 possibly damaging 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600755 1q21.2 1 149007371G> A null S N 1665 1665 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1439024332 1q21.2 1 149007374T> G null F C 1666 1666 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782249478 1q21.2 1 149007373T> C null F L 1666 1666 missense 0.988 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587743065 1q21.2 1 149007377G> A null R Q 1667 1667 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782652841 1q21.2 1 149007376C> T null R W 1667 1667 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782224320 1q21.2 1 149007379G> T null E * 1668 1668 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781883976 1q21.2 1 149007381G> T null E D 1668 1668 missense 0.681 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781883976 1q21.2 1 149007381G> C null E D 1668 1668 missense 0.681 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782676492 1q21.2 1 149007386T> A null L H 1670 1670 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs149205732 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149007388G> A null A T 1671 1671 missense 0.32 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782745846 1q21.2 1 149007389C> T null A V 1671 1671 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600807 1q21.2 1 149007394G> A null G R 1673 1673 missense 0.766 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600819 1q21.2 1 149007397A> T null S C 1674 1674 missense 0.171 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553600822 1q21.2 1 149007398G> A null S N 1674 1674 missense 0.026 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes rs587612929 1q21.2 1 149007407C> T null T I 1677 1677 2.0E-4 missense 0.023 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781812711 1q21.2 1 149007410A> G null E G 1678 1678 missense 0.029 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782057419 1q21.2 1 149007409G> A null E K 1678 1678 missense 0.403 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs369228022 1q21.2 1 149007413G> A null R K 1679 1679 missense 0.203 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782811812 1q21.2 1 149007418A> G null T A 1681 1681 missense 0.023 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781987699 1q21.2 1 149007419C> T null T I 1681 1681 missense 0.345 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782811812 1q21.2 1 149007418A> C null T P 1681 1681 missense 0.144 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781987699 1q21.2 1 149007419C> G null T S 1681 1681 missense 0.039 benign 0.63 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782391318 1q21.2 1 149007423C> G null S R 1682 1682 missense 0.065 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782391318 1q21.2 1 149007423C> A null S R 1682 1682 missense 0.065 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782085523 1q21.2 1 149007427C> T null L F 1684 1684 missense 0.766 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781965276 1q21.2 1 149007433A> C null T P 1686 1686 missense 0.891 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553601794 1q21.2 1 149008446G> A null D N 1688 1688 missense 0.625 possibly damaging 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587760559 1q21.2 1 149008456G> A null S N 1691 1691 2.0E-4 missense 0.007 benign 0.44 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553601806 1q21.2 1 149008458G> T null E * 1692 1692 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553601811 1q21.2 1 149008459A> G null E G 1692 1692 missense 0.034 benign 0.47 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553601806 1q21.2 1 149008458G> A null E K 1692 1692 missense 0.627 possibly damaging 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782515482 1q21.2 1 149008463A> C null K N 1693 1693 missense 0.038 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553601814 1q21.2 1 149008462A> G null K R 1693 1693 missense 0.532 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553601822 1q21.2 1 149008464G> A null D N 1694 1694 missense 0.087 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782259476 1q21.2 1 149008467C> T null Q * 1695 1695 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1230775202 1q21.2 1 149008471C> A null A D 1696 1696 missense 0.035 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782611309 1q21.2 1 149008470G> A null A T 1696 1696 missense 0.014 benign 0.86 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782487233 1q21.2 1 149008474G> T null G V 1697 1697 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781790200 1q21.2 1 149008476C> T null L F 1698 1698 missense 0.089 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781790200 1q21.2 1 149008476C> G null L V 1698 1698 missense 0.113 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553601847 1q21.2 1 149008480A> G null E G 1699 1699 missense 0.278 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,gnomAD rs587660845 1q21.2 1 149008483C> A null P Q 1700 1700 2.0E-4 missense 0.942 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs113953552 1q21.2 1 149008486T> C null L P 1701 1701 0.01897 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781901358 1q21.2 1 149008489C> T null A V 1702 1702 missense 0.549 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782638460 1q21.2 1 149009573G> A null S N 1706 1706 missense 0.559 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781908957 1q21.2 1 149009572A> C null S R 1706 1706 missense 0.189 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553602780 1q21.2 1 149009578G> A null E K 1708 1708 missense 0.887 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553602792 1q21.2 1 149009579A> T null E V 1708 1708 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553602815 1q21.2 1 149009591A> T null K M 1712 1712 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782748500 1q21.2 1 149009594A> C null E A 1713 1713 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs781824908 1q21.2 1 149009593G> C null E Q 1713 1713 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1447320788 1q21.2 1 149009596A> G null K E 1714 1714 missense 0.76 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553602829 1q21.2 1 149009600T> C null V A 1715 1715 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553602837 1q21.2 1 149009603T> C null I T 1716 1716 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781805045 1q21.2 1 149009607A> C null E D 1717 1717 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782784686 1q21.2 1 149009608G> A null V I 1718 1718 missense 0.113 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553602859 1q21.2 1 149009612T> A null L Q 1719 1719 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782079609 1q21.2 1 149009614C> T null Q * 1720 1720 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782300966 1q21.2 1 149009618C> G null A G 1721 1721 missense 0.957 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781959082 1q21.2 1 149009617G> T null A S 1721 1721 missense 0.929 probably damaging 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782300966 1q21.2 1 149009618C> T null A V 1721 1721 missense 0.889 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553602905 1q21.2 1 149009627A> G null D G 1724 1724 missense 0.94 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587673399 1q21.2 1 149009632C> G null R G 1726 1726 2.0E-4 missense 0.189 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112593076 1q21.2 1 149009633G> C null R P 1726 1726 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112593076 1q21.2 1 149009633G> A null R Q 1726 1726 missense 0.189 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587673399 1q21.2 1 149009632C> T null R W 1726 1726 2.0E-4 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553602946 1q21.2 1 149009636C> T null S F 1727 1727 missense 0.278 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553602941 1q21.2 1 149009635T> C null S P 1727 1727 missense 0.978 probably damaging 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553602956 1q21.2 1 149009638C> G null L V 1728 1728 missense 0.039 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782586946 1q21.2 1 149009641A> G null T A 1729 1729 missense 0.552 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553602969 1q21.2 1 149009642C> T null T I 1729 1729 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1275475790 1q21.2 1 149009645C> T null P L 1730 1730 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587716674 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149009648C> T null S F 1731 1731 2.0E-4 missense 0.873 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782509684 1q21.2 1 149009652C> A null S R 1732 1732 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781817507 1q21.2 1 149009654G> A null S N 1733 1733 missense 0.642 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1340319880 1q21.2 1 149009655C> G null S R 1733 1733 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs1778155 1q21.2 1 149009657A> G null H R 1734 1734 missense 0.006 benign 0.89 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782743209 1q21.2 1 149009656C> T null H Y 1734 1734 missense 0.75 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553603038 1q21.2 1 149009663T> C null L S 1736 1736 missense 0.263 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782121299 1q21.2 1 149009666C> G null S C 1737 1737 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs373674085 1q21.2 1 149009665T> C null S P 1737 1737 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1291766373 1q21.2 1 149009669A> T null D V 1738 1738 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587651659 1q21.2 1 149009674C> A null H N 1740 1740 2.0E-4 missense 0.258 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553603077 1q21.2 1 149009676C> G null H Q 1740 1740 missense 0.012 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553603073 1q21.2 1 149009675A> G null H R 1740 1740 missense 0.347 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587651659 1q21.2 1 149009674C> T null H Y 1740 1740 2.0E-4 missense 0.665 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782235694 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 1q21.2 1 149009677C> T null R C 1741 1741 missense 0.774 possibly damaging 0.07 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782329428 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 1q21.2 1 149009678G> A null R H 1741 1741 missense 0.678 possibly damaging 0.15 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782329428 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 1q21.2 1 149009678G> T null R L 1741 1741 missense 0.994 probably damaging 0.01 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782283235 1q21.2 1 149009681C> G null S C 1742 1742 missense 0.564 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782283235 1q21.2 1 149009681C> T null S F 1742 1742 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553603111 1q21.2 1 149009686A> G null S G 1744 1744 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782495023 1q21.2 1 149009689A> G null S G 1745 1745 missense 0.75 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587613536 1q21.2 1 149009691C> G null S R 1745 1745 2.0E-4 missense 0.136 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782587360 1q21.2 1 149009693C> T null T I 1746 1746 missense 0.396 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781782846 1q21.2 1 149009695T> G null S A 1747 1747 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782710490 1q21.2 1 149009696C> T null S F 1747 1747 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1427360892 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149009699T> G null F C 1748 1748 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782558788 1q21.2 1 149009698T> C null F L 1748 1748 missense 0.258 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs1610774 1q21.2 1 149009712A> T null E D 1752 1752 missense 0.023 benign 0.41 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587709566 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149009710G> A null E K 1752 1752 3.99E-4 missense 0.532 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782068311 1q21.2 1 149009714T> C null L P 1753 1753 missense 0.203 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782068311 1q21.2 1 149009714T> A null L Q 1753 1753 missense 0.985 probably damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782422130 1q21.2 1 149009716G> A null E K 1754 1754 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587677170 1q21.2 1 149009719G> A null A T 1755 1755 3.99E-4 missense 0.703 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs201432239 1q21.2 1 149009720C> T null A V 1755 1755 3.99E-4 missense 0.048 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587744104 1q21.2 1 149009730C> A null D E 1758 1758 2.0E-4 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553603200 1q21.2 1 149009731A> G null M V 1759 1759 missense 0.035 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553603203 1q21.2 1 149009734G> A null D N 1760 1760 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553603209 1q21.2 1 149009738T> G null I R 1761 1761 missense 0.018 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553603218 1q21.2 1 149009741T> A null V D 1762 1762 missense 0.031 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs377197248 1q21.2 1 149009745C> A null S R 1763 1763 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782274388 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149009746G> A null E K 1764 1764 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782643047 1q21.2 1 149009752A> G null T A 1766 1766 missense 0.035 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782528396 1q21.2 1 149009753C> G null T R 1766 1766 missense 0.738 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781827934 1q21.2 1 149009756A> G null H R 1767 1767 missense 0.006 benign 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782616276 1q21.2 1 149009759A> G null Y C 1768 1768 missense 0.023 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553603291 1q21.2 1 149009763A> C null E D 1769 1769 missense 0.023 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782809078 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149009769G> T null K N 1771 1771 missense 0.701 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781810647 1q21.2 1 149009768A> G null K R 1771 1771 missense 0.057 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781853641 1q21.2 1 149009772A> C null K N 1772 1772 missense 0.023 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782778843 1q21.2 1 149009774C> G null A G 1773 1773 missense 0.024 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782778843 1q21.2 1 149009774C> T null A V 1773 1773 missense 0.035 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782080675 1q21.2 1 149009779C> G null P A 1775 1775 missense 0.287 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553603390 1q21.2 1 149009786A> T null H L 1777 1777 missense 0.023 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781968967 1q21.2 1 149009785C> A null H N 1777 1777 missense 0.023 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782001028 1q21.2 1 149010444T> G null D E 1779 1779 missense 0.386 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782814417 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 1q21.2 1 149010443A> G null D G 1779 1779 missense 0.974 probably damaging 0.04 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553603409 1q21.2 1 149009791G> T null D Y 1779 1779 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782334544 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 1q21.2 1 149010446C> T null S F 1780 1780 missense 0.637 possibly damaging 0.3 tolerated 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553604090 1q21.2 1 149010445T> C null S P 1780 1780 missense 0.968 probably damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782227052 1q21.2 1 149010448A> T null I F 1781 1781 missense 0.917 probably damaging 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs781919524 1q21.2 1 149010449T> C null I T 1781 1781 missense 0.903 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782227052 1q21.2 1 149010448A> G null I V 1781 1781 missense 0.312 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782273185 1q21.2 1 149010452A> G null H R 1782 1782 missense 0.066 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142425746 1q21.2 1 149010451C> T null H Y 1782 1782 missense 0.066 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782678392 1q21.2 1 149010454C> G null H D 1783 1783 missense 0.949 probably damaging 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782507267 1q21.2 1 149010455A> G null H R 1783 1783 missense 0.929 probably damaging 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782631077 1q21.2 1 149010458C> A null S * 1784 1784 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782631077 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q21.2 1 149010458C> T null S L 1784 1784 missense 0.062 benign 0.15 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs200814424 1q21.2 1 149010457T> C null S P 1784 1784 missense 0.137 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs145199065 1q21.2 1 149010460A> G null S G 1785 1785 missense 0.059 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782669754 1q21.2 1 149010464A> T null H L 1786 1786 missense 0.04 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1472917900 1q21.2 1 149010463C> T null H Y 1786 1786 missense 0.897 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781862387 1q21.2 1 149010467C> T null S F 1787 1787 missense 0.935 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587756120 1q21.2 1 149010466T> C null S P 1787 1787 3.99E-4 missense 0.059 benign 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782772474 1q21.2 1 149010469G> A null A T 1788 1788 missense 0.742 possibly damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782079008 1q21.2 1 149010470C> T null A V 1788 1788 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782706768 1q21.2 1 149010473T> A null V E 1789 1789 missense 0.866 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781832834 1q21.2 1 149010472G> C null V L 1789 1789 missense 0.682 possibly damaging 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781832834 1q21.2 1 149010472G> A null V M 1789 1789 missense 0.984 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782013721 1q21.2 1 149010482C> G null S C 1792 1792 missense 0.994 probably damaging 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes rs200420196 1q21.2 1 149010485A> G null K R 1793 1793 missense 0.681 possibly damaging 0.45 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553604244 1q21.2 1 149010488C> T null P L 1794 1794 missense 0.99 probably damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782416095 1q21.2 1 149010487C> T null P S 1794 1794 missense 0.915 probably damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553604261 1q21.2 1 149010491C> T null S L 1795 1795 missense 0.951 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781961945 1q21.2 1 149010490T> C null S P 1795 1795 missense 0.506 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes rs201225654 1q21.2 1 149010493T> C null S P 1796 1796 missense 0.025 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782185460 1q21.2 1 149010496A> T null T S 1797 1797 missense 0.099 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782582747 1q21.2 1 149010500G> A null S N 1798 1798 missense 0.8 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1209834093 1q21.2 1 149010502G> T null A S 1799 1799 missense 0.179 benign 0.39 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1209834093 1q21.2 1 149010502G> A null A T 1799 1799 missense 0.138 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs144745946 1q21.2 1 149010508C> T null Q * 1801 1801 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553604325 1q21.2 1 149010509A> G null Q R 1801 1801 missense 0.057 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147670655 1q21.2 1 149010512G> A null G E 1802 1802 2.0E-4 missense 0.136 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1282231754 1q21.2 1 149010511G> A null G R 1802 1802 missense 0.917 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781823510 1q21.2 1 149010514G> T null A S 1803 1803 missense 0.072 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781823510 1q21.2 1 149010514G> A null A T 1803 1803 missense 0.328 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782621815 1q21.2 1 149010517A> G null K E 1804 1804 missense 0.621 possibly damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs781802732 1q21.2 1 149010520G> A null A T 1805 1805 missense 0.88 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139225578 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149010523G> A null E K 1806 1806 missense 0.2 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1450758695 1q21.2 1 149010529A> C null N H 1808 1808 missense 0.053 benign 0.56 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781849681 1q21.2 1 149010531C> A null N K 1808 1808 missense 0.0 benign 0.43 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782772853 1q21.2 1 149010533G> A null S N 1809 1809 missense 0.057 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782107893 1q21.2 1 149010534C> G null S R 1809 1809 missense 0.095 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781924968 1q21.2 1 149010536A> G null N S 1810 1810 missense 0.039 benign 0.74 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs142185657 1q21.2 1 149010538C> T null P S 1811 1811 3.99E-4 missense 0.797 possibly damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs137931320 1q21.2 1 149010541A> T null I F 1812 1812 missense 0.065 benign 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782369230 1q21.2 1 149010542T> G null I S 1812 1812 missense 0.018 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs137931320 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 1q21.2 1 149010541A> G null I V 1812 1812 missense 0.023 benign 0.65 tolerated 1 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs376422095 1q21.2 1 149010546C> G null S R 1813 1813 missense 0.056 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553604464 1q21.2 1 149010548T> C null L S 1814 1814 missense 0.949 probably damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes rs200719373 1q21.2 1 149010547T> G null L V 1814 1814 missense 0.85 possibly damaging 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs149238614 1q21.2 1 149010553A> G null T A 1816 1816 missense 0.006 benign 0.81 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553604478 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149010554C> T null T I 1816 1816 missense 0.614 possibly damaging 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs149238614 1q21.2 1 149010553A> C null T P 1816 1816 missense 0.024 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs149238614 1q21.2 1 149010553A> T null T S 1816 1816 missense 0.024 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782179870 1q21.2 1 149010557C> G null P R 1817 1817 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553604482 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149010556C> A null P T 1817 1817 missense 0.955 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782544605 1q21.2 1 149010561G> T null Q H 1818 1818 missense 0.955 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781843454 1q21.2 1 149010569C> A null P H 1821 1821 missense 0.771 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781843454 1q21.2 1 149010569C> T null P L 1821 1821 missense 0.203 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781843454 1q21.2 1 149010569C> G null P R 1821 1821 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782705366 1q21.2 1 149010572A> G null K R 1822 1822 missense 0.038 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553604534 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149010574G> A null E K 1823 1823 missense 0.965 probably damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs201992827 1q21.2 1 149010578C> G null A G 1824 1824 5.99E-4 missense 0.078 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs201992827 1q21.2 1 149010578C> T null A V 1824 1824 5.99E-4 missense 0.287 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587631183 1q21.2 1 149010582C> G null N K 1825 1825 2.0E-4 missense 0.072 benign 0.5 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782115190 1q21.2 1 149010581A> G null N S 1825 1825 missense 0.005 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,TOPMed,gnomAD rs150486668 1q21.2 1 149010587C> T null A V 1827 1827 missense 0.561 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781919925 1q21.2 1 149010590A> G null H R 1828 1828 missense 0.009 benign 0.78 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1294087486 1q21.2 1 149010595G> C null G R 1830 1830 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782073936 1q21.2 1 149012600T> G null F C 1833 1833 missense 0.315 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1163963196 1q21.2 1 149012602C> T null H Y 1834 1834 missense 0.116 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587684536 1q21.2 1 149012606C> G null S C 1835 1835 2.0E-4 missense 0.204 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587684536 1q21.2 1 149012606C> T null S F 1835 1835 2.0E-4 missense 0.204 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782151314 1q21.2 1 149012608A> G null I V 1836 1836 missense 0.015 benign 0.45 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1366496209 1q21.2 1 149012611C> A null P T 1837 1837 missense 0.078 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782043574 1q21.2 1 149012614A> T null K * 1838 1838 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782134708 1q21.2 1 149012618T> C null L P 1839 1839 missense 0.01 benign 0.69 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs781957983 1q21.2 1 149012620G> A null A T 1840 1840 missense 0.031 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782362435 1q21.2 1 149012625C> G null S R 1841 1841 missense 0.362 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553606270 1q21.2 1 149012627T> G null L R 1842 1842 missense 0.905 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782591372 1q21.2 1 149012630C> T null P L 1843 1843 missense 0.922 probably damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782591372 1q21.2 1 149012630C> G null P R 1843 1843 missense 0.962 probably damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140487163 1q21.2 1 149012635G> T null A S 1845 1845 0.01518 missense 0.816 possibly damaging 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140487163 1q21.2 1 149012635G> A null A T 1845 1845 0.01518 missense 0.215 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1291980412 1q21.2 1 149012636C> T null A V 1845 1845 missense 0.816 possibly damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782511813 1q21.2 1 149012639C> T null P L 1846 1846 missense 0.724 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782511813 1q21.2 1 149012639C> G null P R 1846 1846 missense 0.904 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782635088 1q21.2 1 149012638C> T null P S 1846 1846 missense 0.289 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782613884 1q21.2 1 149012644C> T null P S 1848 1848 missense 0.125 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782445770 cosmic curated [Cosmic]: endometrium, [Cosmic]: urinary_tract cosmic_study:413,cosmic_study:419 1q21.2 1 149012648C> T null S L 1849 1849 missense 0.703 possibly damaging 0.11 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781889930 1q21.2 1 149012650G> C null A P 1850 1850 missense 0.832 possibly damaging 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781889930 1q21.2 1 149012650G> A null A T 1850 1850 missense 0.038 benign 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs142480563 1q21.2 1 149012651C> T null A V 1850 1850 missense 0.528 possibly damaging 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs369193561 1q21.2 1 149012653C> G null P A 1851 1851 missense 0.112 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587669053 1q21.2 1 149012654C> T null P L 1851 1851 2.0E-4 missense 0.048 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587669053 1q21.2 1 149012654C> A null P Q 1851 1851 2.0E-4 missense 0.919 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs369193561 1q21.2 1 149012653C> T null P S 1851 1851 missense 0.263 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782318072 1q21.2 1 149012662T> C null F L 1854 1854 missense 0.98 probably damaging 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782030134 1q21.2 1 149012669C> T null P L 1856 1856 missense 0.087 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs143672177 1q21.2 1 149012668C> T null P S 1856 1856 missense 0.458 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs145692305 1q21.2 1 149012674A> G null S G 1858 1858 missense 0.005 benign 0.67 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781943418 1q21.2 1 149012675G> A null S N 1858 1858 missense 0.438 benign 0.55 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553606424 1q21.2 1 149012677C> T null P S 1859 1859 missense 0.047 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1280164483 1q21.2 1 149012681C> T null T I 1860 1860 missense 0.072 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782678906 1q21.2 1 149012684G> C null G A 1861 1861 missense 0.288 benign 0.48 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782178000 1q21.2 1 149012683G> A null G S 1861 1861 missense 0.915 probably damaging 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559331547 1q21.2 1 149012687C> T null P L 1862 1862 missense 0.434 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553606492 1q21.2 1 149012689C> T null L F 1863 1863 missense 0.033 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs1778158 1q21.2 1 149012690T> C null L P 1863 1863 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782648379 1q21.2 1 149012693T> C null L P 1864 1864 missense 0.295 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1398291348 1q21.2 1 149012692C> G null L V 1864 1864 missense 0.295 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs782481673 1q21.2 1 149012695C> T null L F 1865 1865 missense 0.278 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1407322760 1q21.2 1 149012699G> A null G D 1866 1866 missense 0.519 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553606532 1q21.2 1 149012701T> G null C G 1867 1867 missense 0.359 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553606538 1q21.2 1 149012707G> A null E K 1869 1869 missense 0.613 possibly damaging 0.91 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781841110 1q21.2 1 149012711C> T null T I 1870 1870 missense 0.532 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1388244926 1q21.2 1 149012713C> G null P A 1871 1871 missense 0.76 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1388244926 1q21.2 1 149012713C> A null P T 1871 1871 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,dbSNP,gnomAD rs1778159 pubmed:17974005 1q21.2 1 149012717T> A null V E 1872 1872 missense 0.8 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs369459937 1q21.2 1 149012720T> C null V A 1873 1873 missense 0.505 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs369459937 1q21.2 1 149012720T> A null V D 1873 1873 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553606576 1q21.2 1 149012719G> A null V I 1873 1873 missense 0.345 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782721170 1q21.2 1 149012729C> G null A G 1876 1876 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782322991 1q21.2 1 149012735C> A null A D 1878 1878 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,dbSNP,gnomAD rs1698605 pubmed:17974005 1q21.2 1 149012734G> T null A S 1878 1878 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs1698605 1q21.2 1 149012734G> A null A T 1878 1878 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782298216 1q21.2 1 149012737C> T null Q * 1879 1879 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587629236 1q21.2 1 149012740C> T null Q * 1880 1880 2.0E-4 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587629236 1q21.2 1 149012740C> G null Q E 1880 1880 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587629236 1q21.2 1 149012740C> A null Q K 1880 1880 2.0E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782631535 1q21.2 1 149012741A> G null Q R 1880 1880 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782661983 1q21.2 1 149012751G> C null Q H 1883 1883 missense 0.839 possibly damaging 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782205081 1q21.2 1 149012750A> G null Q R 1883 1883 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553606680 1q21.2 1 149012753T> A null M K 1884 1884 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782549273 1q21.2 1 149012756T> G null L R 1885 1885 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781848605 1q21.2 1 149012758C> T null Q * 1886 1886 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782762303 1q21.2 1 149012759A> G null Q R 1886 1886 missense 0.203 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782481411 1q21.2 1 149012764C> G null Q E 1888 1888 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553606756 1q21.2 1 149012765A> G null Q R 1888 1888 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553606764 1q21.2 1 149012769G> C null L F 1889 1889 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782370553 1q21.2 1 149016299G> A null S N 1892 1892 missense 0.17 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553606777 1q21.2 1 149012776A> C null S R 1892 1892 missense 0.179 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782370553 1q21.2 1 149016299G> C null S T 1892 1892 missense 0.112 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs1628310 1q21.2 1 149016301G> A null A T 1893 1893 missense 0.007 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587758176 1q21.2 1 149016308C> G null T S 1895 1895 2.0E-4 missense 0.015 benign 0.58 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610628 1q21.2 1 149016310G> T null V F 1896 1896 missense 0.529 possibly damaging 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782175451 1q21.2 1 149016314C> T null P L 1897 1897 missense 0.748 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610639 1q21.2 1 149016313C> T null P S 1897 1897 missense 0.643 possibly damaging 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553610650 1q21.2 1 149016316C> T null P S 1898 1898 missense 0.199 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782574379 1q21.2 1 149016320C> T null A V 1899 1899 missense 0.021 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610691 1q21.2 1 149016326C> T null T I 1901 1901 missense 0.105 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610710 1q21.2 1 149016329C> G null A G 1902 1902 missense 0.04 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782413685 1q21.2 1 149016328G> A null A T 1902 1902 missense 0.014 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610729 1q21.2 1 149016334T> A null L M 1904 1904 missense 0.322 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs150740777 1q21.2 1 149016340A> C null S R 1906 1906 missense 0.724 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs148617852 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149016346G> A null D N 1908 1908 missense 0.079 benign 0.51 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781842026 1q21.2 1 149016351G> C null L F 1909 1909 missense 0.471 possibly damaging 0.43 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610761 1q21.2 1 149016352G> T null E * 1910 1910 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1355638881 1q21.2 1 149016355G> C null A P 1911 1911 missense 0.178 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs201190340 1q21.2 1 149016358G> C null D H 1912 1912 missense 0.0 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs201190340 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149016358G> A null D N 1912 1912 missense 0.0 benign 0.43 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782723646 1q21.2 1 149016362C> T null S F 1913 1913 missense 0.111 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781865970 1q21.2 1 149016361T> A null S T 1913 1913 missense 0.196 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610814 1q21.2 1 149016368A> C null Y S 1915 1915 missense 0.001 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782142082 1q21.2 1 149016371A> G null Y C 1916 1916 missense 0.023 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781919647 1q21.2 1 149016370T> C null Y H 1916 1916 missense 0.038 benign 0.46 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782142082 1q21.2 1 149016371A> C null Y S 1916 1916 missense 0.532 possibly damaging 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs201932457 1q21.2 1 149016373C> T null L F 1917 1917 5.99E-4 missense 0.089 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP rs370468965 1q21.2 1 149016374T> C null L P 1917 1917 missense 0.056 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP rs370468965 1q21.2 1 149016374T> G null L R 1917 1917 missense 0.113 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610875 1q21.2 1 149016378C> A null N K 1918 1918 missense 0.048 benign 0.43 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs143848459 1q21.2 1 149016377A> G null N S 1918 1918 missense 0.026 benign 0.72 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782212961 1q21.2 1 149016379T> C null S P 1919 1919 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610898 1q21.2 1 149016382G> T null A S 1920 1920 missense 0.196 benign 0.5 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs199614379 1q21.2 1 149016383C> T null A V 1920 1920 3.99E-4 missense 0.071 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782204174 1q21.2 1 149016387G> T null Q H 1921 1921 missense 0.044 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782673147 1q21.2 1 149016389C> T null P L 1922 1922 missense 0.038 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610912 1q21.2 1 149016388C> A null P T 1922 1922 missense 0.065 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs367986136 1q21.2 1 149016391C> T null H Y 1923 1923 missense 0.015 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782457081 1q21.2 1 149016395C> G null S C 1924 1924 missense 0.089 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782457081 1q21.2 1 149016395C> T null S F 1924 1924 missense 0.144 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610932 1q21.2 1 149016394T> C null S P 1924 1924 missense 0.023 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782699095 1q21.2 1 149016398C> T null P L 1925 1925 missense 0.383 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553610953 1q21.2 1 149016400C> T null P S 1926 1926 missense 0.116 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782455346 1q21.2 1 149016403A> G null R G 1927 1927 missense 0.014 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782798988 1q21.2 1 149016405G> C null R S 1927 1927 missense 0.072 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782133326 1q21.2 1 149016407G> A null G D 1928 1928 missense 0.035 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781954515 1q21.2 1 149016409A> G null T A 1929 1929 missense 0.009 benign 0.78 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1448719635 1q21.2 1 149016413T> G null I R 1930 1930 missense 0.006 benign 0.53 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1282076180 1q21.2 1 149016417A> T null E D 1931 1931 missense 0.048 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781941374 1q21.2 1 149016415G> A null E K 1931 1931 missense 0.287 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781941374 1q21.2 1 149016415G> C null E Q 1931 1931 missense 0.287 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1207480853 1q21.2 1 149016422G> A null G E 1933 1933 missense 0.703 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781988104 1q21.2 1 149016421G> A null G R 1933 1933 missense 0.854 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553611066 1q21.2 1 149016424A> G null R G 1934 1934 missense 0.035 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587595793 1q21.2 1 149016425G> A null R K 1934 1934 5.99E-4 missense 0.057 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782443612 1q21.2 1 149016429C> G null I M 1935 1935 missense 0.843 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782206442 1q21.2 1 149016427A> G null I V 1935 1935 missense 0.023 benign 0.48 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs77154995 1q21.2 1 149016430C> A null L I 1936 1936 missense 0.55 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs77154995 1q21.2 1 149016430C> G null L V 1936 1936 missense 0.163 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553611113 1q21.2 1 149016434A> C null E A 1937 1937 missense 0.057 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782549596 1q21.2 1 149016435G> C null E D 1937 1937 missense 0.035 benign 0.41 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782549596 1q21.2 1 149016435G> T null E D 1937 1937 missense 0.035 benign 0.41 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553611106 1q21.2 1 149016433G> A null E K 1937 1937 missense 0.035 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1231129509 1q21.2 1 149016436C> T null P S 1938 1938 missense 0.179 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781851680 1q21.2 1 149016440G> C null G A 1939 1939 missense 0.29 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781851680 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149016440G> A null G E 1939 1939 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553611168 1q21.2 1 149016443_149016444insGAA T null Y * 1940 1940 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1284045419 1q21.2 1 149016442T> C null Y H 1940 1940 missense 0.237 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553611183 1q21.2 1 149016448G> A null G S 1942 1942 missense 0.065 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553611205 1q21.2 1 149016452G> A null S N 1943 1943 missense 0.057 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782707968 1q21.2 1 149016454A> C null S R 1944 1944 missense 0.014 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553611215 1q21.2 1 149016457G> A null G S 1945 1945 missense 0.039 benign 0.32 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs61762990 1q21.2 1 149016460A> C null K Q 1946 1946 missense 0.001 benign 0.87 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553611233 1q21.2 1 149016461A> G null K R 1946 1946 missense 0.003 benign 0.67 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553611236 1q21.2 1 149016465G> T null W C 1947 1947 missense 0.383 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61762991 1q21.2 1 149016468T> A null D E 1948 1948 7.99E-4 missense 0.292 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781911566 1q21.2 1 149016466G> A null D N 1948 1948 missense 0.111 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781946709 1q21.2 1 149016470T> G null V G 1949 1949 missense 0.314 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587663294 1q21.2 1 149016469G> A null V M 1949 1949 2.0E-4 missense 0.013 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782039746 1q21.2 1 149016479C> T null P L 1952 1952 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781940157 1q21.2 1 149016481C> T null Q * 1953 1953 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782407671 1q21.2 1 149016482A> G null Q R 1953 1953 missense 0.16 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1167327741 1q21.2 1 149016492T> A null S R 1956 1956 missense 0.056 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782631789 1q21.2 1 149016493G> A null V I 1957 1957 missense 0.023 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782631789 1q21.2 1 149016493G> T null V L 1957 1957 missense 0.023 benign 0.61 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587649147 1q21.2 1 149016503A> T null D V 1960 1960 2.0E-4 missense 0.568 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782467202 1q21.2 1 149016512C> T null S L 1963 1963 missense 0.049 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553611408 1q21.2 1 149016515G> A null G D 1964 1964 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140473285 1q21.2 1 149016518C> T null S F 1965 1965 5.99E-4 missense 0.583 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587719743 1q21.2 1 149016521C> G null S C 1966 1966 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587719743 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 1q21.2 1 149016521C> T null S F 1966 1966 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782724957 1q21.2 1 149016523G> C null V L 1967 1967 missense 0.009 benign 0.78 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782096360 1q21.2 1 149016529C> T null Q * 1969 1969 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781783791 1q21.2 1 149016531G> C null Q H 1969 1969 missense 0.056 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs375188862 1q21.2 1 149016539C> G null S C 1972 1972 missense 0.955 probably damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs375188862 1q21.2 1 149016539C> A null S Y 1972 1972 missense 0.919 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782372563 1q21.2 1 149016544C> G null P A 1974 1974 missense 0.038 benign 0.45 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1273287617 1q21.2 1 149016547A> G null T A 1975 1975 missense 0.532 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781793680 1q21.2 1 149017750G> A null A T 1977 1977 missense 0.078 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782539102 1q21.2 1 149017754A> C null D A 1978 1978 missense 0.112 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782768783 1q21.2 1 149017755C> A null D E 1978 1978 missense 0.112 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613002 1q21.2 1 149017753G> C null D H 1978 1978 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782539102 1q21.2 1 149017754A> T null D V 1978 1978 missense 0.526 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613020 1q21.2 1 149017762G> A null E K 1981 1981 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781959007 1q21.2 1 149017771C> T null L F 1984 1984 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587683775 1q21.2 1 149017775G> A null G D 1985 1985 2.0E-4 missense 0.738 possibly damaging 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587683775 1q21.2 1 149017775G> T null G V 1985 1985 2.0E-4 missense 0.163 benign 0.63 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781929388 1q21.2 1 149017778A> C null E A 1986 1986 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587632744 1q21.2 1 149017782C> G null I M 1987 1987 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139494606 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149017784G> A null R Q 1988 1988 9.98E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1698597 1q21.2 1 149017783C> T null R W 1988 1988 0.07089 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782582075 1q21.2 1 149017788C> A null N K 1989 1989 missense 0.445 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782390226 1q21.2 1 149017786A> T null N Y 1989 1989 missense 0.917 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs368632857 1q21.2 1 149017792C> T null R C 1991 1991 missense 0.774 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587616717 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 1q21.2 1 149017793G> A null R H 1991 1991 2.0E-4 missense 0.977 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613120 1q21.2 1 149017795C> A null Q K 1992 1992 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781878297 1q21.2 1 149017796A> C null Q P 1992 1992 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143415702 1q21.2 1 149017798C> T null R C 1993 1993 0.001398 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141052149 1q21.2 1 149017799G> A null R H 1993 1993 5.99E-4 missense 0.955 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613165 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149017811C> A null S Y 1997 1997 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782139977 1q21.2 1 149017813A> C null I L 1998 1998 missense 0.872 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613181 1q21.2 1 149017814T> C null I T 1998 1998 missense 0.685 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782139977 1q21.2 1 149017813A> G null I V 1998 1998 missense 0.736 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1301620588 1q21.2 1 149017817G> T null C F 1999 1999 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1424430693 1q21.2 1 149017819A> C null I L 2000 2000 missense 0.322 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587652174 1q21.2 1 149017823A> G null N S 2001 2001 3.99E-4 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs372528288 1q21.2 1 149017822A> T null N Y 2001 2001 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs1620560 1q21.2 1 149017828C> T null R C 2003 2003 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs375617654 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149017829G> A null R H 2003 2003 missense 0.303 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs375617654 1q21.2 1 149017829G> C null R P 2003 2003 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367741522 1q21.2 1 149017835G> A null R Q 2005 2005 2.0E-4 missense 0.959 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370147814 1q21.2 1 149017834C> T null R W 2005 2005 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613306 1q21.2 1 149017838A> G null E G 2006 2006 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1265539811 1q21.2 1 149017837G> A null E K 2006 2006 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613325 1q21.2 1 149017840C> G null Q E 2007 2007 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613335 1q21.2 1 149017842A> C null Q H 2007 2007 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613344 1q21.2 1 149017844T> G null L R 2008 2008 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782585583 1q21.2 1 149017843C> G null L V 2008 2008 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782440164 1q21.2 1 149017847A> C null E A 2009 2009 missense 0.877 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782668542 1q21.2 1 149017851C> A null H Q 2010 2010 missense 0.017 benign 0.36 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613367 1q21.2 1 149017850A> G null H R 2010 2010 missense 0.01 benign 0.7 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781883252 1q21.2 1 149017849C> T null H Y 2010 2010 missense 0.015 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781872392 1q21.2 1 149017852C> G null R G 2011 2011 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs376806138 1q21.2 1 149017853G> A null R Q 2011 2011 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781872392 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149017852C> T null R W 2011 2011 missense 0.291 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782100236 1q21.2 1 149017856T> C null L P 2012 2012 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782100236 1q21.2 1 149017856T> A null L Q 2012 2012 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613410 1q21.2 1 149017858A> G null T A 2013 2013 missense 0.007 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781808152 1q21.2 1 149017859C> A null T N 2013 2013 missense 0.175 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613444 1q21.2 1 149017862C> G null S C 2014 2014 missense 0.17 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613444 1q21.2 1 149017862C> T null S F 2014 2014 missense 0.526 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782809107 1q21.2 1 149017864A> G null T A 2015 2015 missense 0.029 benign 0.36 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781988554 1q21.2 1 149017867G> C null A P 2016 2016 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781988554 1q21.2 1 149017867G> T null A S 2016 2016 missense 0.363 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782189064 1q21.2 1 149017868C> T null A V 2016 2016 missense 0.68 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201187446 1q21.2 1 149017870C> T null R C 2017 2017 5.99E-4 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201187446 1q21.2 1 149017870C> G null R G 2017 2017 5.99E-4 missense 0.926 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144059949 cosmic curated [Cosmic]: endometrium cosmic_study:419 1q21.2 1 149017871G> A null R H 2017 2017 3.99E-4 missense 0.96 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144059949 1q21.2 1 149017871G> T null R L 2017 2017 3.99E-4 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201187446 1q21.2 1 149017870C> A null R S 2017 2017 5.99E-4 missense 0.867 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613516 1q21.2 1 149017873G> C null G R 2018 2018 missense 0.056 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553613516 1q21.2 1 149017873G> A null G R 2018 2018 missense 0.056 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782193544 1q21.2 1 149017876A> G null R G 2019 2019 missense 0.0 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1282280555 1q21.2 1 149017878G> T null R S 2019 2019 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782006556 1q21.2 1 149017879G> A null G R 2020 2020 missense 0.978 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782484416 1q21.2 1 149018542G> T null G V 2020 2020 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1406396987 1q21.2 1 149018544T> G null S A 2021 2021 missense 0.345 benign 0.88 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782531020 1q21.2 1 149018545C> G null S C 2021 2021 missense 0.345 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782531020 1q21.2 1 149018545C> T null S F 2021 2021 missense 0.649 possibly damaging 0.61 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1406396987 1q21.2 1 149018544T> A null S T 2021 2021 missense 0.065 benign 0.51 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782531020 1q21.2 1 149018545C> A null S Y 2021 2021 missense 0.094 benign 0.89 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1245106128 1q21.2 1 149018547A> G null T A 2022 2022 missense 0.023 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs4307515 1q21.2 1 149018550T> A null S T 2023 2023 missense 0.059 benign 0.54 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553614411 1q21.2 1 149018553A> G null N D 2024 2024 missense 0.039 benign 0.42 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs200500676 1q21.2 1 149018557T> C null F S 2025 2025 0.001198 missense 0.244 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782046209 1q21.2 1 149018562A> G null S G 2027 2027 missense 0.001 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781938506 1q21.2 1 149018563G> T null S I 2027 2027 missense 0.03 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781938506 1q21.2 1 149018563G> A null S N 2027 2027 missense 0.015 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553614439 1q21.2 1 149018564T> G null S R 2027 2027 missense 0.426 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782046209 1q21.2 1 149018562A> C null S R 2027 2027 missense 0.426 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1240863824 1q21.2 1 149018567G> C null Q H 2028 2028 missense 0.975 probably damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782421342 1q21.2 1 149018569G> A null G D 2029 2029 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782421342 1q21.2 1 149018569G> T null G V 2029 2029 missense 0.278 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782118630 1q21.2 1 149018571C> G null L V 2030 2030 missense 0.083 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1314965161 1q21.2 1 149018574G> A null E K 2031 2031 missense 0.877 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553614463 1q21.2 1 149018580A> G null I V 2033 2033 missense 0.003 benign 0.68 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1306166476 1q21.2 1 149018584C> T null P L 2034 2034 missense 0.037 benign 0.46 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553614468 1q21.2 1 149018583C> T null P S 2034 2034 missense 0.037 benign 0.75 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553614474 1q21.2 1 149018587A> G null Q R 2035 2035 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782232662 1q21.2 1 149018590T> A null L H 2036 2036 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782347099 1q21.2 1 149018589C> G null L V 2036 2036 missense 0.398 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes rs587701260 1q21.2 1 149018592T> C null C R 2037 2037 2.0E-4 missense 0.116 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC rs587645692 1q21.2 1 149018596A> G null N S 2038 2038 2.0E-4 missense 0.024 benign 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782281620 1q21.2 1 149018605G> A null R K 2041 2041 missense 0.059 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553614525 1q21.2 1 149018613A> G null R G 2044 2044 missense 0.629 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781865722 1q21.2 1 149018616G> A null E K 2045 2045 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs1613780 1q21.2 1 149018621C> A null D E 2046 2046 missense 0.001 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782598503 1q21.2 1 149018620A> G null D G 2046 2046 missense 0.231 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs199506660 1q21.2 1 149018622A> G null N D 2047 2047 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782705632 1q21.2 1 149018623A> G null N S 2047 2047 missense 0.957 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,TOPMed,gnomAD rs376978550 1q21.2 1 149018625C> T null R * 2048 2048 stop gained 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs148146447 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q21.2 1 149018626G> A null R Q 2048 2048 missense 0.042 benign 0.52 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782783980 1q21.2 1 149018630A> C null R S 2049 2049 missense 0.001 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781859987 1q21.2 1 149018629G> C null R T 2049 2049 missense 0.003 benign 0.56 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs374118946 1q21.2 1 149018634C> T null Q * 2051 2051 stop gained 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs374118946 1q21.2 1 149018634C> G null Q E 2051 2051 missense 0.078 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782315216 1q21.2 1 149018637G> T null A S 2052 2052 missense 0.335 benign 0.32 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553614650 1q21.2 1 149018646A> G null S G 2055 2055 missense 0.039 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782025384 1q21.2 1 149018647G> A null S N 2055 2055 missense 0.023 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1343868638 1q21.2 1 149018651T> G null H Q 2056 2056 missense 0.177 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1343868638 1q21.2 1 149018651T> A null H Q 2056 2056 missense 0.177 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553614672 1q21.2 1 149018652G> A null V I 2057 2057 missense 0.003 benign 0.48 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553614675 1q21.2 1 149018655T> G null S A 2058 2058 missense 0.928 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782409517 1q21.2 1 149018656C> A null S Y 2058 2058 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782644802 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149018658A> G null R G 2059 2059 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616346 1q21.2 1 149020151C> G null H Q 2061 2061 missense 0.75 possibly damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782343144 1q21.2 1 149020150A> G null H R 2061 2061 missense 0.037 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781998918 1q21.2 1 149020149C> T null H Y 2061 2061 missense 0.889 possibly damaging 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616355 1q21.2 1 149020152T> C null S P 2062 2062 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs782210795 1q21.2 1 149020156A> G null Q R 2063 2063 missense 0.037 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616367 1q21.2 1 149020159A> C null E A 2064 2064 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616387 1q21.2 1 149020168G> A null S N 2067 2067 missense 0.116 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587691403 1q21.2 1 149020169C> A null S R 2067 2067 2.0E-4 missense 0.003 benign 0.54 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781921245 1q21.2 1 149020174G> A null R K 2069 2069 missense 0.021 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782691995 1q21.2 1 149020179G> C null A P 2071 2071 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782691995 1q21.2 1 149020179G> T null A S 2071 2071 missense 0.957 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782691995 1q21.2 1 149020179G> A null A T 2071 2071 missense 0.889 possibly damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782511603 1q21.2 1 149020180C> T null A V 2071 2071 missense 0.987 probably damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616436 1q21.2 1 149020182C> G null L V 2072 2072 missense 0.961 probably damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616462 1q21.2 1 149020192C> T null S F 2075 2075 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs139257887 1q21.2 1 149020194C> T null R * 2076 2076 stop gained 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs139257887 1q21.2 1 149020194C> G null R G 2076 2076 missense 0.599 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782086451 1q21.2 1 149020195G> T null R L 2076 2076 missense 0.599 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782086451 1q21.2 1 149020195G> C null R P 2076 2076 missense 0.869 possibly damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782086451 cosmic curated [Cosmic]: large_intestine, [Cosmic]: cervix cosmic_study:376,cosmic_study:415 1q21.2 1 149020195G> A null R Q 2076 2076 missense 0.042 benign 0.33 tolerated 1 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs145583085 1q21.2 1 149020198C> G null S C 2077 2077 missense 0.278 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs145583085 1q21.2 1 149020198C> T null S F 2077 2077 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1553616505 1q21.2 1 149020197T> A null S T 2077 2077 missense 0.191 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs145583085 1q21.2 1 149020198C> A null S Y 2077 2077 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782425552 1q21.2 1 149020208A> C null Q H 2080 2080 missense 0.492 possibly damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782124851 1q21.2 1 149020211G> C null E D 2081 2081 missense 0.131 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616536 1q21.2 1 149020209G> A null E K 2081 2081 missense 0.877 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559376537 1q21.2 1 149020213T> C null L P 2082 2082 missense 0.568 possibly damaging 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs200921415 1q21.2 1 149020218A> G null K E 2084 2084 missense 0.177 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616562 1q21.2 1 149020219A> G null K R 2084 2084 missense 0.01 benign 0.56 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs151198364 1q21.2 1 149020223G> T null E D 2085 2085 missense 0.877 possibly damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1438580455 1q21.2 1 149020231A> G null H R 2088 2088 missense 0.007 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs368916630 1q21.2 1 149020230C> T null H Y 2088 2088 2.0E-4 missense 0.665 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782682152 1q21.2 1 149020236A> G null K E 2090 2090 missense 0.345 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616632 1q21.2 1 149020240T> A null V E 2091 2091 missense 0.015 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782504658 1q21.2 1 149020239G> A null V M 2091 2091 missense 0.078 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782618915 1q21.2 1 149020245A> G null R G 2093 2093 missense 0.331 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782443063 1q21.2 1 149020246G> A null R K 2093 2093 missense 0.026 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587686796 1q21.2 1 149020247G> C null R S 2093 2093 2.0E-4 missense 0.048 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587686796 1q21.2 1 149020247G> T null R S 2093 2093 2.0E-4 missense 0.048 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782618915 1q21.2 1 149020245A> T null R W 2093 2093 missense 0.907 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781862652 1q21.2 1 149020248C> T null Q * 2094 2094 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781862652 1q21.2 1 149020248C> G null Q E 2094 2094 missense 0.676 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616692 1q21.2 1 149020250G> T null Q H 2094 2094 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616698 1q21.2 1 149020251C> T null Q * 2095 2095 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616707 1q21.2 1 149020254C> T null L F 2096 2096 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782788193 1q21.2 1 149020258T> C null L S 2097 2097 missense 0.132 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782306305 1q21.2 1 149020261A> G null E G 2098 2098 missense 0.048 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782306305 1q21.2 1 149020261A> T null E V 2098 2098 missense 0.883 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782061718 1q21.2 1 149020263G> A null D N 2099 2099 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782432086 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 1q21.2 1 149020268G> C null L F 2100 2100 missense 0.997 probably damaging 0.01 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616760 1q21.2 1 149020267T> G null L W 2100 2100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616778 1q21.2 1 149020270G> A null R K 2101 2101 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782361607 1q21.2 1 149020273A> C null E A 2102 2102 missense 0.087 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782600791 1q21.2 1 149020272G> A null E K 2102 2102 missense 0.234 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1200265875 1q21.2 1 149020275A> C null K Q 2103 2103 missense 0.76 possibly damaging 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782185407 1q21.2 1 149020282A> G null Q R 2105 2105 missense 0.631 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781899343 1q21.2 1 149020285A> C null E A 2106 2106 missense 0.795 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782521470 1q21.2 1 149020286G> C null E D 2106 2106 missense 0.232 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782521470 1q21.2 1 149020286G> T null E D 2106 2106 missense 0.232 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781899343 1q21.2 1 149020285A> G null E G 2106 2106 missense 0.893 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150109646 1q21.2 1 149020284G> A null E K 2106 2106 missense 0.919 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781828495 1q21.2 1 149020287G> T null V F 2107 2107 missense 0.426 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781812001 1q21.2 1 149020292G> C null L F 2108 2108 missense 0.144 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782442726 1q21.2 1 149020290T> G null L V 2108 2108 missense 0.023 benign 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs375865186 1q21.2 1 149020294A> G null H R 2109 2109 missense 0.023 benign 0.32 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781986650 1q21.2 1 149020298C> G null F L 2110 2110 missense 0.022 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616903 1q21.2 1 149020303A> G null E G 2112 2112 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616888 1q21.2 1 149020302G> A null E K 2112 2112 missense 0.905 possibly damaging 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782327059 1q21.2 1 149020307A> C null E D 2113 2113 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782097714 1q21.2 1 149020305G> A null E K 2113 2113 missense 0.957 probably damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782031953 cosmic curated [Cosmic]: oesophagus cosmic_study:582 1q21.2 1 149020308C> T null R C 2114 2114 missense 0.997 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145067181 cosmic curated [Cosmic]: large_intestine cosmic_study:375 1q21.2 1 149020309G> A null R H 2114 2114 0.001198 missense 0.997 probably damaging 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145067181 1q21.2 1 149020309G> T null R L 2114 2114 0.001198 missense 0.975 probably damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145067181 1q21.2 1 149020309G> C null R P 2114 2114 0.001198 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782031953 1q21.2 1 149020308C> A null R S 2114 2114 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1387005146 1q21.2 1 149020312T> C null L P 2115 2115 missense 0.934 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553616975 1q21.2 1 149020315C> G null S C 2116 2116 missense 0.362 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782188356 1q21.2 1 149020314T> C null S P 2116 2116 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782188356 1q21.2 1 149020314T> A null S T 2116 2116 missense 0.901 possibly damaging 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782592746 1q21.2 1 149020317C> G null L V 2117 2117 missense 0.813 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781910152 1q21.2 1 149020323G> A null E K 2119 2119 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553617044 1q21.2 1 149020330A> G null D G 2121 2121 missense 0.506 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553617032 cosmic curated [Cosmic]: large_intestine cosmic_study:376 1q21.2 1 149020329G> A null D N 2121 2121 missense 0.014 benign 1.0 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782530189 1q21.2 1 149020332T> G null S A 2122 2122 missense 0.542 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781836691 cosmic curated [Cosmic]: lung cosmic_study:417 1q21.2 1 149020333C> G null S C 2122 2122 missense 0.18 benign 0.0 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781836691 1q21.2 1 149020333C> T null S F 2122 2122 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782530189 1q21.2 1 149020332T> C null S P 2122 2122 missense 0.961 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553617075 1q21.2 1 149020335A> G null R G 2123 2123 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782345263 1q21.2 1 149021031T> C null L P 2124 2124 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs140993521 1q21.2 1 149021033C> T null Q * 2125 2125 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs140993521 1q21.2 1 149021033C> A null Q K 2125 2125 missense 0.652 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781818180 1q21.2 1 149021045G> T null V F 2129 2129 missense 0.427 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1377884688 1q21.2 1 149021049T> C null L P 2130 2130 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782447252 1q21.2 1 149021048C> G null L V 2130 2130 missense 0.837 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1333689385 1q21.2 1 149021051C> A null L M 2131 2131 missense 0.906 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618253 1q21.2 1 149021052T> C null L P 2131 2131 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782165261 1q21.2 1 149021054C> T null Q * 2132 2132 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782165261 1q21.2 1 149021054C> A null Q K 2132 2132 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781857091 1q21.2 1 149021057C> T null Q * 2133 2133 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1463865188 1q21.2 1 149021061A> G null Q R 2134 2134 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782085600 1q21.2 1 149021063T> G null C G 2135 2135 missense 0.804 possibly damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782085600 1q21.2 1 149021063T> C null C R 2135 2135 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782085600 1q21.2 1 149021063T> A null C S 2135 2135 missense 0.733 possibly damaging 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618310 1q21.2 1 149021064G> A null C Y 2135 2135 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782327549 1q21.2 1 149021071G> C null E D 2137 2137 missense 0.342 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs71225704 1q21.2 1 149021070A> G null E G 2137 2137 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618317 1q21.2 1 149021069G> A null E K 2137 2137 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618353 1q21.2 1 149021080G> T null Q H 2140 2140 missense 0.718 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782030974 1q21.2 1 149021078C> A null Q K 2140 2140 missense 0.795 possibly damaging 0.32 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1467478146 1q21.2 1 149021079A> C null Q P 2140 2140 missense 0.982 probably damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782366174 1q21.2 1 149021082T> A null L H 2141 2141 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781946370 1q21.2 1 149021085T> C null F S 2142 2142 missense 0.039 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782176879 1q21.2 1 149021087G> T null E * 2143 2143 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782592565 1q21.2 1 149021088A> C null E A 2143 2143 missense 0.006 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782545209 1q21.2 1 149021091C> G null S C 2144 2144 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618407 1q21.2 1 149021093C> T null L F 2145 2145 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618412 1q21.2 1 149021094T> A null L H 2145 2145 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs142831758 1q21.2 1 149021098G> T null Q H 2146 2146 missense 0.17 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs142831758 1q21.2 1 149021098G> C null Q H 2146 2146 missense 0.17 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618424 1q21.2 1 149021100C> T null S L 2147 2147 missense 0.729 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618430 1q21.2 1 149021104G> T null E D 2148 2148 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618443 1q21.2 1 149021106T> A null L Q 2149 2149 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782437496 1q21.2 1 149021108C> T null Q * 2150 2150 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618460 1q21.2 1 149021110A> T null Q H 2150 2150 missense 0.513 possibly damaging 0.39 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781889009 1q21.2 1 149021109A> C null Q P 2150 2150 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781889009 1q21.2 1 149021109A> G null Q R 2150 2150 missense 0.413 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs145618115 1q21.2 1 149021111A> G null I V 2151 2151 missense 0.104 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782111140 1q21.2 1 149021115A> G null Y C 2152 2152 missense 0.839 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1457044689 1q21.2 1 149021114T> C null Y H 2152 2152 missense 0.839 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782740549 1q21.2 1 149021117G> T null E * 2153 2153 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782740549 1q21.2 1 149021117G> A null E K 2153 2153 missense 0.607 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782336046 1q21.2 1 149021121C> A null A E 2154 2154 missense 0.631 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs369209866 1q21.2 1 149021120G> A null A T 2154 2154 missense 0.059 benign 0.45 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782336046 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 1q21.2 1 149021121C> T null A V 2154 2154 missense 0.083 benign 0.07 tolerated 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618498 1q21.2 1 149021123C> G null L V 2155 2155 missense 0.76 possibly damaging 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs148913865 1q21.2 1 149021127A> G null Y C 2156 2156 2.0E-4 missense 0.014 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs148913865 1q21.2 1 149021127A> T null Y F 2156 2156 2.0E-4 missense 0.014 benign 0.65 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618502 1q21.2 1 149021126T> C null Y H 2156 2156 missense 0.024 benign 0.5 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs148913865 1q21.2 1 149021127A> C null Y S 2156 2156 2.0E-4 missense 0.072 benign 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618527 1q21.2 1 149021130G> A null G D 2157 2157 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782497017 1q21.2 1 149021132A> C null N H 2158 2158 missense 0.831 possibly damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553618554 1q21.2 1 149021133A> G null N S 2158 2158 missense 0.012 benign 0.83 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782176745 1q21.2 1 149021136C> A null S Y 2159 2159 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782552378 1q21.2 1 149021140G> C null K N 2160 2160 missense 0.8 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782667460 1q21.2 1 149021138A> C null K Q 2160 2160 missense 0.322 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781855955 1q21.2 1 149021141A> T null K * 2161 2161 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1376467906 1q21.2 1 149021144G> A null G R 2162 2162 missense 0.089 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139822181 1q21.2 1 149021151A> G null K R 2164 2164 missense 0.056 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782619181 1q21.2 1 149024445C> G null A G 2165 2165 missense 0.131 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781834195 1q21.2 1 149021153G> A null A T 2165 2165 missense 0.922 probably damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553624354 1q21.2 1 149024447T> G null Y D 2166 2166 missense 0.166 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782443294 1q21.2 1 149024450A> T null S C 2167 2167 missense 0.869 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782443294 1q21.2 1 149024450A> G null S G 2167 2167 missense 0.015 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781811423 1q21.2 1 149024451G> A null S N 2167 2167 missense 0.015 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138585606 1q21.2 1 149024456G> A null D N 2169 2169 5.99E-4 missense 0.278 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138585606 1q21.2 1 149024456G> T null D Y 2169 2169 5.99E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782718132 1q21.2 1 149024459G> T null A S 2170 2170 missense 0.08 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553624380 1q21.2 1 149024460C> T null A V 2170 2170 missense 0.629 possibly damaging 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553624397 1q21.2 1 149024463G> A null C Y 2171 2171 missense 0.015 benign 0.45 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782096091 1q21.2 1 149024465C> T null H Y 2172 2172 missense 0.04 benign 0.39 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559410614 1q21.2 1 149024469A> G null Q R 2173 2173 missense 0.214 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782037772 1q21.2 1 149024473C> G null I M 2174 2174 missense 0.703 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs144830139 1q21.2 1 149024474C> G null P A 2175 2175 missense 0.76 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781960713 1q21.2 1 149024482C> G null S R 2177 2177 missense 0.735 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1241068669 1q21.2 1 149024488C> G null D E 2179 2179 missense 0.086 benign 0.43 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782363478 1q21.2 1 149024486G> C null D H 2179 2179 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782363478 1q21.2 1 149024486G> A null D N 2179 2179 missense 0.912 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782187269 1q21.2 1 149024493G> A null S N 2181 2181 missense 0.035 benign 0.29 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782187269 1q21.2 1 149024493G> C null S T 2181 2181 missense 0.55 possibly damaging 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs111601830 1q21.2 1 149024497C> A null H Q 2182 2182 missense 0.028 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs111601830 1q21.2 1 149024497C> G null H Q 2182 2182 missense 0.028 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782240992 1q21.2 1 149024498C> G null L V 2183 2183 missense 0.342 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553624512 1q21.2 1 149024502T> C null V A 2184 2184 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782477558 1q21.2 1 149024501G> A null V M 2184 2184 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs781834667 1q21.2 1 149024505C> A null A E 2185 2185 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1465325749 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149024504G> T null A S 2185 2185 missense 0.549 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1465325749 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149024504G> A null A T 2185 2185 missense 0.203 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs782428111 1q21.2 1 149024508A> C null E A 2186 2186 missense 0.877 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782448831 1q21.2 1 149024510G> A null V I 2187 2187 missense 0.013 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs374884458 1q21.2 1 149024513C> T null R * 2188 2188 2.0E-4 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs374884458 1q21.2 1 149024513C> G null R G 2188 2188 2.0E-4 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2798851 1q21.2 1 149024514G> A null R Q 2188 2188 missense 0.15 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1265605696 1q21.2 1 149024517C> G null A G 2189 2189 missense 0.706 possibly damaging 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781922461 1q21.2 1 149024525G> C null G R 2192 2192 missense 0.205 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553624648 1q21.2 1 149024528C> A null Q K 2193 2193 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1361985599 1q21.2 1 149024532T> C null L P 2194 2194 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1361985599 1q21.2 1 149024532T> G null L R 2194 2194 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782283043 1q21.2 1 149024535A> G null E G 2195 2195 missense 0.88 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs182136884 1q21.2 1 149024537C> T null Q * 2196 2196 stop gained 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs189778297 1q21.2 1 149024539G> C null Q H 2196 2196 missense 0.024 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs182136884 1q21.2 1 149024537C> A null Q K 2196 2196 missense 0.014 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782389037 1q21.2 1 149024538A> G null Q R 2196 2196 missense 0.014 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553624723 1q21.2 1 149024541G> A null S N 2197 2197 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs201776113 1q21.2 1 149024550G> A null G E 2200 2200 missense 0.314 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782665274 1q21.2 1 149024552A> G null N D 2201 2201 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111880480 1q21.2 1 149024554C> G null N K 2201 2201 0.02596 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111880480 1q21.2 1 149024554C> A null N K 2201 2201 0.02596 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553624798 1q21.2 1 149024553A> G null N S 2201 2201 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553624820 1q21.2 1 149024555A> G null N D 2202 2202 missense 0.55 possibly damaging 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1294293811 1q21.2 1 149024556A> G null N S 2202 2202 missense 0.059 benign 0.56 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587733095 1q21.2 1 149024559G> T null C F 2203 2203 2.0E-4 missense 0.017 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553624856 1q21.2 1 149024558T> C null C R 2203 2203 missense 0.006 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553624856 1q21.2 1 149024558T> A null C S 2203 2203 missense 0.005 benign 0.86 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587733095 1q21.2 1 149024559G> C null C S 2203 2203 2.0E-4 missense 0.005 benign 0.86 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1162755110 1q21.2 1 149024561C> A null L M 2204 2204 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782708790 1q21.2 1 149024562T> C null L P 2204 2204 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782064349 1q21.2 1 149024564C> T null R * 2205 2205 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781891386 1q21.2 1 149024565G> A null R Q 2205 2205 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1190947740 1q21.2 1 149024570C> T null Q * 2207 2207 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1445867257 1q21.2 1 149024571A> G null Q R 2207 2207 missense 0.136 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553624934 1q21.2 1 149024573C> A null L M 2208 2208 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781952104 1q21.2 1 149024576C> T null Q * 2209 2209 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781952104 1q21.2 1 149024576C> G null Q E 2209 2209 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782049245 1q21.2 1 149024579C> T null Q * 2210 2210 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782049245 1q21.2 1 149024579C> G null Q E 2210 2210 missense 0.526 possibly damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1559412841 1q21.2 1 149024581G> T null Q H 2210 2210 missense 0.17 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782049245 1q21.2 1 149024579C> A null Q K 2210 2210 missense 0.5 possibly damaging 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782401951 1q21.2 1 149024584G> T null Q H 2211 2211 missense 0.112 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,TOPMed rs370434253 1q21.2 1 149024588G> T null E * 2213 2213 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1290028538 1q21.2 1 149024590G> T null E D 2213 2213 missense 0.017 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,TOPMed rs370434253 1q21.2 1 149024588G> C null E Q 2213 2213 missense 0.778 possibly damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553625005 1q21.2 1 149024592G> A null S N 2214 2214 missense 0.259 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149529638 1q21.2 1 149024593C> A null S R 2214 2214 missense 0.013 benign 0.46 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782395179 1q21.2 1 149024594G> C null G R 2215 2215 missense 0.503 possibly damaging 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782395179 1q21.2 1 149024594G> A null G S 2215 2215 missense 0.383 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782218386 1q21.2 1 149024595G> T null G V 2215 2215 missense 0.637 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553625028 1q21.2 1 149024598C> A null A D 2216 2216 missense 0.127 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781805081 1q21.2 1 149024607C> G null A G 2219 2219 missense 0.006 benign 0.44 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782438453 1q21.2 1 149024606G> A null A T 2219 2219 missense 0.088 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782658758 1q21.2 1 149024611C> G null S R 2220 2220 missense 0.041 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782658758 1q21.2 1 149024611C> A null S R 2220 2220 missense 0.041 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782568183 1q21.2 1 149024613T> C null L P 2221 2221 missense 0.294 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782726058 1q21.2 1 149024615A> G null S G 2222 2222 missense 0.015 benign 0.53 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1325893266 1q21.2 1 149024616G> A null S N 2222 2222 missense 0.026 benign 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553625112 1q21.2 1 149024617C> A null S R 2222 2222 missense 0.015 benign 0.46 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553625120 1q21.2 1 149024619C> T null P L 2223 2223 missense 0.112 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782096819 cosmic curated [Cosmic]: lung cosmic_study:417 1q21.2 1 149024622C> T null S F 2224 2224 missense 0.026 benign 0.21 tolerated 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,gnomAD rs587668089 1q21.2 1 149024625C> T null S F 2225 2225 2.0E-4 missense 0.694 possibly damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782136181 1q21.2 1 149024627A> C null I L 2226 2226 missense 0.0 benign 0.48 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782136181 1q21.2 1 149024627A> G null I V 2226 2226 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs782028884 1q21.2 1 149024630A> G null N D 2227 2227 missense 0.259 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782364091 1q21.2 1 149024632C> G null N K 2227 2227 missense 0.259 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782364091 1q21.2 1 149024632C> A null N K 2227 2227 missense 0.259 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553625164 1q21.2 1 149024633C> G null Q E 2228 2228 missense 0.012 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782134940 1q21.2 1 149024636A> C null N H 2229 2229 missense 0.482 possibly damaging 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1364017652 1q21.2 1 149024638C> A null N K 2229 2229 missense 0.003 benign 0.75 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781955489 1q21.2 1 149024640T> C null F S 2230 2230 missense 0.068 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782588737 1q21.2 1 149024646C> A null A D 2232 2232 missense 0.029 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782588737 1q21.2 1 149024646C> G null A G 2232 2232 missense 0.287 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782588737 1q21.2 1 149024646C> T null A V 2232 2232 missense 0.012 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553625223 1q21.2 1 149024648A> G null S G 2233 2233 missense 0.005 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782294578 1q21.2 1 149024649G> A null S N 2233 2233 missense 0.001 benign 0.7 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782644210 1q21.2 1 149024651A> G null T A 2234 2234 missense 0.0 benign 0.91 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782461222 1q21.2 1 149024652C> T null T I 2234 2234 missense 0.009 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553625255 1q21.2 1 149024655A> G null D G 2235 2235 missense 0.023 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs150096209 1q21.2 1 149024654G> A null D N 2235 2235 2.0E-4 missense 0.038 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781880236 1q21.2 1 149024657C> G null P A 2236 2236 missense 0.648 possibly damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs370872065 1q21.2 1 149024658C> A null P H 2236 2236 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781880236 1q21.2 1 149024657C> T null P S 2236 2236 missense 0.212 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782509062 1q21.2 1 149024660G> A null G R 2237 2237 missense 0.083 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782750804 1q21.2 1 149024667A> G null K R 2239 2239 missense 0.01 benign 0.6 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553625326 1q21.2 1 149024669C> G null Q E 2240 2240 missense 0.113 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553625326 1q21.2 1 149024669C> A null Q K 2240 2240 missense 0.445 benign 0.21 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1201033578 1q21.2 1 149024675C> T null L F 2242 2242 missense 0.061 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781929291 1q21.2 1 149024676T> G null L R 2242 2242 missense 0.136 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782722601 1q21.2 1 149024678C> T null L F 2243 2243 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782152167 1q21.2 1 149024684G> C null D H 2245 2245 missense 0.939 probably damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782152167 1q21.2 1 149024684G> T null D Y 2245 2245 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1173945870 1q21.2 1 149026718C> G null S * 2246 2246 missense 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1479231420 1q21.2 1 149026720G> A null A T 2247 2247 missense 0.015 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587622604 1q21.2 1 149026727C> T null S F 2249 2249 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587622604 1q21.2 1 149026727C> A null S Y 2249 2249 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1376240686 1q21.2 1 149026730C> G null P R 2250 2250 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553628248 1q21.2 1 149026735G> A null V I 2252 2252 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs144397176 1q21.2 1 149026739G> A null R Q 2253 2253 missense 0.416 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs146619065 1q21.2 1 149026738C> T null R W 2253 2253 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782564928 1q21.2 1 149026743T> A null D E 2254 2254 missense 0.98 probably damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553628295 1q21.2 1 149026741G> C null D H 2254 2254 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782450380 1q21.2 1 149026745T> C null V A 2255 2255 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782450380 1q21.2 1 149026745T> G null V G 2255 2255 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139705183 1q21.2 1 149026748G> A null G D 2256 2256 2.0E-4 missense 0.189 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139705183 1q21.2 1 149026748G> T null G V 2256 2256 2.0E-4 missense 0.87 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs377580954 cosmic curated [Cosmic]: endometrium cosmic_study:419 1q21.2 1 149026752G> A null M I 2257 2257 2.0E-4 missense 0.237 benign 0.02 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782690422 1q21.2 1 149026750A> G null M V 2257 2257 missense 0.023 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781864916 1q21.2 1 149026754A> G null N S 2258 2258 missense 0.031 benign 0.52 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1264038020 1q21.2 1 149026757C> T null S F 2259 2259 missense 0.809 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782096561 1q21.2 1 149026760C> A null P Q 2260 2260 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782096561 1q21.2 1 149026760C> G null P R 2260 2260 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553628343 1q21.2 1 149026759C> T null P S 2260 2260 missense 0.519 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1342643699 1q21.2 1 149026763C> A null A D 2261 2261 missense 0.631 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1342643699 1q21.2 1 149026763C> G null A G 2261 2261 missense 0.052 benign 0.09 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781797036 1q21.2 1 149026766T> C null L P 2262 2262 missense 0.023 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781797036 1q21.2 1 149026766T> A null L Q 2262 2262 missense 0.843 possibly damaging 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782717839 1q21.2 1 149026769T> C null V A 2263 2263 missense 0.023 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs3855990 1q21.2 1 149026771T> C null F L 2264 2264 missense 0.021 benign 0.39 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553628415 1q21.2 1 149026774C> T null P S 2265 2265 missense 0.138 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781951690 1q21.2 1 149026783G> T null A S 2268 2268 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs782363157 1q21.2 1 149026784C> T null A V 2268 2268 missense 0.005 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs782194058 1q21.2 1 149026787C> T null S F 2269 2269 missense 0.015 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111420757 1q21.2 1 149026790C> G null S C 2270 2270 missense 0.909 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553628462 1q21.2 1 149026793C> T null T I 2271 2271 missense 0.072 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587655557 1q21.2 1 149026795C> A null P T 2272 2272 2.0E-4 missense 0.863 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553628489 1q21.2 1 149026799G> C null G A 2273 2273 missense 0.048 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782218120 1q21.2 1 149026804G> T null E * 2275 2275 missense 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782218120 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 1q21.2 1 149026804G> C null E Q 2275 2275 missense 0.667 possibly damaging 0.09 tolerated 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587627879 1q21.2 1 149026808C> T null T M 2276 2276 2.0E-4 missense 0.262 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs3845154 1q21.2 1 149026810C> G null P A 2277 2277 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs3845154 1q21.2 1 149026810C> T null P S 2277 2277 missense 0.001 benign 0.69 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781873063 1q21.2 1 149026815A> G null I M 2278 2278 missense 0.031 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782497321 1q21.2 1 149026814T> C null I T 2278 2278 missense 0.003 benign 0.47 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP rs373244975 1q21.2 1 149026818C> G null I M 2279 2279 missense 0.078 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782725059 1q21.2 1 149026816A> G null I V 2279 2279 missense 0.007 benign 0.68 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782101773 1q21.2 1 149026821C> G null N K 2280 2280 missense 0.006 benign 0.62 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs138200154 1q21.2 1 149026823G> C null R T 2281 2281 missense 0.631 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs3845153 1q21.2 1 149026825G> A null A T 2282 2282 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs3845152 1q21.2 1 149026828A> C null N H 2283 2283 missense 0.766 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587726198 1q21.2 1 149026830T> A null N K 2283 2283 2.0E-4 missense 0.014 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553628615 1q21.2 1 149026829A> G null N S 2283 2283 missense 0.024 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes rs587639970 1q21.2 1 149027401G> C null G A 2284 2284 2.0E-4 missense 0.076 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553629647 1q21.2 1 149027403T> A null L M 2285 2285 missense 0.766 possibly damaging 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781941684 1q21.2 1 149027404T> C null L S 2285 2285 missense 0.641 possibly damaging 0.38 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782045156 1q21.2 1 149027407G> A null G D 2286 2286 missense 0.024 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782731586 1q21.2 1 149027406G> C null G R 2286 2286 missense 0.056 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs146990576 1q21.2 1 149027412G> A null D N 2288 2288 missense 0.014 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553629702 1q21.2 1 149027421C> T null P S 2291 2291 missense 0.118 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781995662 1q21.2 1 149027424G> A null V I 2292 2292 missense 0.12 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1299736353 1q21.2 1 149027429G> C null M I 2293 2293 missense 0.003 benign 0.52 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782217360 1q21.2 1 149027428T> A null M K 2293 2293 missense 0.006 benign 0.44 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782217360 1q21.2 1 149027428T> G null M R 2293 2293 missense 0.006 benign 0.78 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782217360 1q21.2 1 149027428T> C null M T 2293 2293 missense 0.003 benign 0.66 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs3853916 1q21.2 1 149027433A> G null T A 2295 2295 missense 0.051 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782270075 1q21.2 1 149027434C> A null T N 2295 2295 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553629840 cosmic curated [Cosmic]: endometrium cosmic_study:419 1q21.2 1 149027437C> T null P L 2296 2296 missense 0.735 possibly damaging 0.01 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553629829 1q21.2 1 149027436C> T null P S 2296 2296 missense 0.092 benign 0.41 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1294015888 1q21.2 1 149027442A> G null K E 2298 2298 missense 0.038 benign 0.46 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553629898 1q21.2 1 149027448G> C null E Q 2300 2300 missense 0.526 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782480880 1q21.2 1 149027451G> T null G C 2301 2301 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782480880 1q21.2 1 149027451G> A null G S 2301 2301 missense 0.922 probably damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781785461 1q21.2 1 149027452G> T null G V 2301 2301 missense 0.383 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782148423 1q21.2 1 149027455A> G null D G 2302 2302 missense 0.038 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782148423 1q21.2 1 149027455A> T null D V 2302 2302 missense 0.649 possibly damaging 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553629958 1q21.2 1 149027454G> T null D Y 2302 2302 missense 0.735 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1477908698 1q21.2 1 149027457G> A null A T 2303 2303 missense 0.383 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782760292 1q21.2 1 149027464A> G null D G 2305 2305 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782140956 1q21.2 1 149027467G> T null G V 2306 2306 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630071 1q21.2 1 149027473T> C null F S 2308 2308 missense 0.76 possibly damaging 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782367485 1q21.2 1 149027479A> G null N S 2310 2310 missense 0.059 benign 0.27 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1196371066 1q21.2 1 149027481A> G null K E 2311 2311 missense 0.816 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630119 1q21.2 1 149027483G> C null K N 2311 2311 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630127 1q21.2 1 149027485A> G null H R 2312 2312 missense 0.026 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630140 1q21.2 1 149027488G> T null G V 2313 2313 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587688581 1q21.2 1 149027490C> T null R C 2314 2314 0.001198 missense 0.06 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138789611 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 1q21.2 1 149027491G> A null R H 2314 2314 5.99E-4 missense 0.094 benign 0.16 tolerated 1 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs369946897 1q21.2 1 149027494A> T null H L 2315 2315 2.0E-4 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630199 1q21.2 1 149027495T> A null H Q 2315 2315 missense 0.856 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs369946897 1q21.2 1 149027494A> G null H R 2315 2315 2.0E-4 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs373115663 1q21.2 1 149027493C> T null H Y 2315 2315 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587680121 1q21.2 1 149027496G> A null V I 2316 2316 2.0E-4 missense 0.889 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630252 1q21.2 1 149027500T> C null I T 2317 2317 missense 0.631 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149046780 1q21.2 1 149027499A> G null I V 2317 2317 5.99E-4 missense 0.035 benign 0.31 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782450233 1q21.2 1 149027503G> A null G D 2318 2318 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs150294397 1q21.2 1 149027502G> A null G S 2318 2318 missense 0.905 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630284 1q21.2 1 149027505C> T null H Y 2319 2319 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782677741 1q21.2 1 149027510T> G null I M 2320 2320 missense 0.159 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1263699087 1q21.2 1 149027509T> C null I T 2320 2320 missense 0.116 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781883341 1q21.2 1 149027508A> G null I V 2320 2320 missense 0.014 benign 0.75 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs141475837 1q21.2 1 149027512A> G null D G 2321 2321 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630309 1q21.2 1 149027511G> A null D N 2321 2321 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,gnomAD rs141475837 1q21.2 1 149027512A> T null D V 2321 2321 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1213302249 1q21.2 1 149027516C> G null D E 2322 2322 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782752791 1q21.2 1 149027518A> G null Y C 2323 2323 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781871204 1q21.2 1 149027517T> C null Y H 2323 2323 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782108152 1q21.2 1 149027520A> G null S G 2324 2324 missense 0.242 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630363 1q21.2 1 149027521G> A null S N 2324 2324 missense 0.024 benign 0.35 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630385 1q21.2 1 149027524C> T null A V 2325 2325 missense 0.278 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1318948625 1q21.2 1 149027526C> G null L V 2326 2326 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587649052 1q21.2 1 149027529A> G null R G 2327 2327 7.99E-4 missense 0.009 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630408 1q21.2 1 149027530G> A null R K 2327 2327 missense 0.003 benign 0.84 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630408 1q21.2 1 149027530G> C null R T 2327 2327 missense 0.015 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630428 1q21.2 1 149027532C> G null Q E 2328 2328 missense 0.059 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587597184 1q21.2 1 149027540T> G null I M 2330 2330 0.0 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781980934 1q21.2 1 149027539T> G null I S 2330 2330 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781980934 1q21.2 1 149027539T> C null I T 2330 2330 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs375355163 1q21.2 1 149027542C> A null A E 2331 2331 missense 0.005 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630468 1q21.2 1 149027541G> A null A T 2331 2331 missense 0.116 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs375355163 1q21.2 1 149027542C> T null A V 2331 2331 missense 0.006 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782195955 1q21.2 1 149027548G> A null G D 2333 2333 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782195955 1q21.2 1 149027548G> T null G V 2333 2333 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782014196 1q21.2 1 149027550A> G null K E 2334 2334 missense 0.196 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630547 1q21.2 1 149027551A> G null K R 2334 2334 missense 0.029 benign 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782423452 1q21.2 1 149027553C> A null L M 2335 2335 missense 0.242 benign 0.32 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1387962270 1q21.2 1 149027559G> T null V F 2337 2337 missense 0.817 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587718626 1q21.2 1 149027562A> G null K E 2338 2338 2.0E-4 missense 0.258 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630587 1q21.2 1 149027566A> C null K T 2339 2339 missense 0.883 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1553630607 1q21.2 1 149027571G> A null V M 2341 2341 missense 0.051 benign 0.34 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782575726 1q21.2 1 149027575C> T null S F 2342 2342 missense 0.532 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782234521 1q21.2 1 149027574T> A null S T 2342 2342 missense 0.136 benign 0.4 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630651 1q21.2 1 149027578T> C null L P 2343 2343 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782461641 1q21.2 1 149027581T> G null V G 2344 2344 missense 0.258 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630665 1q21.2 1 149027580G> C null V L 2344 2344 missense 0.007 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630690 1q21.2 1 149027583A> G null R G 2345 2345 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781892221 1q21.2 1 149027584G> T null R I 2345 2345 missense 0.17 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781892221 1q21.2 1 149027584G> A null R K 2345 2345 missense 0.629 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587632975 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 1q21.2 1 149027590C> T null A V 2347 2347 7.99E-4 missense 0.741 possibly damaging 0.01 deleterious 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630741 1q21.2 1 149027596G> T null S I 2349 2349 missense 0.115 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs139799674 1q21.2 1 149027597C> G null S R 2349 2349 missense 0.049 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs139799674 1q21.2 1 149027597C> A null S R 2349 2349 missense 0.049 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630741 1q21.2 1 149027596G> C null S T 2349 2349 missense 0.009 benign 0.36 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630766 1q21.2 1 149027598T> C null F L 2350 2350 missense 0.003 benign 0.8 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630785 1q21.2 1 149027602C> T null P L 2351 2351 missense 0.459 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630797 1q21.2 1 149027604G> A null G S 2352 2352 missense 0.059 benign 0.26 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630807 1q21.2 1 149027605G> T null G V 2352 2352 missense 0.738 possibly damaging 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs371386014 1q21.2 1 149027607C> G null L V 2353 2353 missense 0.896 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553630820 1q21.2 1 149027610G> A null E K 2354 2354 missense 0.491 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782163559 1q21.2 1 149027614C> A null A D 2355 2355 missense 0.649 possibly damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782794218 1q21.2 1 149027613G> A null A T 2355 2355 missense 0.056 benign 0.28 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781987831 1q21.2 1 149027620G> C null G A 2357 2357 missense 0.191 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781987831 1q21.2 1 149027620G> T null G V 2357 2357 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1458251556 1q21.2 1 149027622A> G null T A 2358 2358 missense 0.021 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782393008 1q21.2 1 149027623C> T null T I 2358 2358 missense 0.036 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs3844239 1q21.2 1 149027626A> G null E G 2359 2359 missense 0.112 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782210804 1q21.2 1 149027625G> A null E K 2359 2359 missense 0.048 benign 0.36 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782210804 1q21.2 1 149027625G> C null E Q 2359 2359 missense 0.263 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781906111 1q21.2 1 149028561T> A null V E 2360 2360 missense 0.056 benign 0.18 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782149607 1q21.2 1 149028560G> A null V M 2360 2360 missense 0.237 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632339 1q21.2 1 149028564T> C null L P 2361 2361 missense 0.014 benign 0.22 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782068057 1q21.2 1 149028567G> C null G A 2362 2362 missense 0.038 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782068057 1q21.2 1 149028567G> A null G D 2362 2362 missense 0.038 benign 0.47 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782068057 1q21.2 1 149028567G> T null G V 2362 2362 missense 0.056 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1173151849 1q21.2 1 149028572A> G null K E 2364 2364 missense 0.003 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632365 1q21.2 1 149028573A> G null K R 2364 2364 missense 0.116 benign 0.42 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs587744989 1q21.2 1 149028575G> T null G C 2365 2365 9.98E-4 missense 0.859 possibly damaging 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1365805011 1q21.2 1 149028576G> A null G D 2365 2365 missense 0.116 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1365805011 1q21.2 1 149028576G> T null G V 2365 2365 missense 0.104 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782643741 1q21.2 1 149028582A> G null H R 2367 2367 missense 0.003 benign 0.87 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782344493 1q21.2 1 149028586G> T null E D 2368 2368 missense 0.818 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC rs782233046 1q21.2 1 149028587C> A null L I 2369 2369 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs748397848 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149028591G> A null R Q 2370 2370 missense 0.017 benign 0.3 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs142861673 1q21.2 1 149028590C> T null R W 2370 2370 missense 0.01 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781899030 1q21.2 1 149028593A> G null S G 2371 2371 missense 0.048 benign 0.42 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632415 1q21.2 1 149028594G> A null S N 2371 2371 missense 0.112 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632419 1q21.2 1 149028595C> A null S R 2371 2371 missense 0.17 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782694630 1q21.2 1 149028597G> T null S I 2372 2372 missense 0.873 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782694630 1q21.2 1 149028597G> A null S N 2372 2372 missense 0.111 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1484684050 1q21.2 1 149028602A> G null S G 2374 2374 missense 0.038 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782501601 1q21.2 1 149028603G> A null S N 2374 2374 missense 0.038 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632457 1q21.2 1 149028606C> T null A V 2375 2375 missense 0.036 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782733465 1q21.2 1 149028611C> A null H N 2377 2377 missense 0.009 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782733465 1q21.2 1 149028611C> T null H Y 2377 2377 missense 0.258 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632476 1q21.2 1 149028615A> T null H L 2378 2378 missense 0.017 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632476 1q21.2 1 149028615A> G null H R 2378 2378 missense 0.003 benign 0.48 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632471 1q21.2 1 149028614C> T null H Y 2378 2378 missense 0.468 possibly damaging 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782432315 1q21.2 1 149028618C> A null A D 2379 2379 missense 0.116 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1237812175 1q21.2 1 149028625G> C null E D 2381 2381 missense 0.087 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632527 1q21.2 1 149028624A> G null E G 2381 2381 missense 0.816 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781803406 1q21.2 1 149028623G> A null E K 2381 2381 missense 0.729 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1294358644 1q21.2 1 149028627A> G null E G 2382 2382 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1335548925 1q21.2 1 149028626G> A null E K 2382 2382 missense 0.784 possibly damaging 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632556 1q21.2 1 149028630C> T null S L 2383 2383 missense 0.322 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632580 1q21.2 1 149028633C> T null A V 2384 2384 missense 0.049 benign 0.19 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782166353 1q21.2 1 149028636C> T null S F 2385 2385 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1312771711 1q21.2 1 149028635T> C null S P 2385 2385 missense 0.015 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782082083 1q21.2 1 149028641C> T null L F 2387 2387 missense 0.469 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782082083 1q21.2 1 149028641C> A null L I 2387 2387 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632647 1q21.2 1 149028644A> C null T P 2388 2388 missense 0.006 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781972819 1q21.2 1 149028645C> G null T S 2388 2388 missense 0.024 benign 0.32 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782311211 1q21.2 1 149028647A> G null M V 2389 2389 missense 0.014 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs779404906 1q21.2 1 149028650T> A null F I 2390 2390 missense 0.614 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs779404906 1q21.2 1 149028650T> C null F L 2390 2390 missense 0.314 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632676 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 1q21.2 1 149028659G> A null A T 2393 2393 missense 0.619 possibly damaging 0.04 deleterious 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782199862 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149028660C> T null A V 2393 2393 missense 0.746 possibly damaging 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632695 1q21.2 1 149028663C> T null A V 2394 2394 missense 0.212 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782253987 1q21.2 1 149028666T> C null L P 2395 2395 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782425233 1q21.2 1 149028665C> G null L V 2395 2395 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368043502 cosmic curated [Cosmic]: eye pubmed:23793026,cosmic_study:493 1q21.2 1 149028672G> A null S N 2397 2397 3.99E-4 missense 0.015 benign 0.18 tolerated 1 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782168860 1q21.2 1 149028675C> T null T I 2398 2398 missense 0.006 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781904413 1q21.2 1 149028681T> A null I N 2400 2400 missense 0.003 benign 0.52 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781904413 1q21.2 1 149028681T> C null I T 2400 2400 missense 0.003 benign 0.68 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632761 1q21.2 1 149028680A> G null I V 2400 2400 missense 0.031 benign 0.5 tolerated 0 A0A075B749 PDE4DIP Myomegalin Ensembl rs1553632775 1q21.2 1 149028684C> G null P R 2401 2401 missense 0.864 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632793 1q21.2 1 149028687T> C null V A 2402 2402 missense 0.003 benign 0.98 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632787 1q21.2 1 149028686G> A null V M 2402 2402 missense 0.045 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781825970 1q21.2 1 149028693C> T null P L 2404 2404 missense 0.01 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782518981 1q21.2 1 149028692C> T null P S 2404 2404 missense 0.007 benign 0.47 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587624923 1q21.2 1 149028696G> C null G A 2405 2405 2.0E-4 missense 0.038 benign 0.52 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587624923 1q21.2 1 149028696G> A null G D 2405 2405 2.0E-4 missense 0.038 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782741762 1q21.2 1 149028695G> A null G S 2405 2405 missense 0.039 benign 0.49 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs587624923 1q21.2 1 149028696G> T null G V 2405 2405 2.0E-4 missense 0.16 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781988018 1q21.2 1 149028698A> G null K E 2406 2406 missense 0.024 benign 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553632853 1q21.2 1 149028702T> C null V A 2407 2407 missense 0.003 benign 0.81 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1182967662 1q21.2 1 149029788G> A null G E 2408 2408 missense 0.09 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781971350 1q21.2 1 149029787G> A null G R 2408 2408 missense 0.189 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1182967662 1q21.2 1 149029788G> T null G V 2408 2408 missense 0.928 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1273072170 1q21.2 1 149029792A> C null E D 2409 2409 missense 0.023 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1273072170 1q21.2 1 149029792A> T null E D 2409 2409 missense 0.023 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634411 1q21.2 1 149029793T> C null S P 2410 2410 missense 0.685 possibly damaging 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782436057 1q21.2 1 149029797C> T null T I 2411 2411 missense 0.006 benign 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782436057 1q21.2 1 149029797C> A null T K 2411 2411 missense 0.156 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782072273 1q21.2 1 149029796A> T null T S 2411 2411 missense 0.116 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed rs782667039 1q21.2 1 149029802A> G null R G 2413 2413 missense 0.015 benign 0.51 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782176118 1q21.2 1 149029807A> T null E D 2414 2414 missense 0.882 possibly damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634493 1q21.2 1 149029806A> G null E G 2414 2414 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782342804 1q21.2 1 149029805G> A null E K 2414 2414 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1217617337 1q21.2 1 149029808C> T null L F 2415 2415 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782579350 1q21.2 1 149029809T> G null L R 2415 2415 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1217617337 1q21.2 1 149029808C> G null L V 2415 2415 missense 0.731 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782289048 1q21.2 1 149029811C> A null L M 2416 2416 missense 0.843 possibly damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634526 1q21.2 1 149029812T> A null L Q 2416 2416 missense 0.113 benign 0.2 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782289048 1q21.2 1 149029811C> G null L V 2416 2416 missense 0.038 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634536 1q21.2 1 149029815A> T null E V 2417 2417 missense 0.116 benign 0.12 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1411400374 1q21.2 1 149029818T> G null L R 2418 2418 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781817906 1q21.2 1 149029821G> C null R T 2419 2419 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782757237 1q21.2 1 149029823A> G null T A 2420 2420 missense 0.007 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1307293860 1q21.2 1 149029824C> T null T I 2420 2420 missense 0.239 benign 0.02 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1307293860 1q21.2 1 149029824C> A null T N 2420 2420 missense 0.026 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782434966 1q21.2 1 149029826A> T null K * 2421 2421 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782434966 1q21.2 1 149029826A> G null K E 2421 2421 missense 0.445 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634606 1q21.2 1 149029833C> G null S C 2423 2423 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782799180 1q21.2 1 149029832T> A null S T 2423 2423 missense 0.049 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs2798855 1q21.2 1 149029835A> C null K Q 2424 2424 missense 0.024 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634619 1q21.2 1 149029836A> G null K R 2424 2424 missense 0.014 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1173338428 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.2 1 149029838C> T null Q * 2425 2425 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1173338428 1q21.2 1 149029838C> G null Q E 2425 2425 missense 0.76 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634639 1q21.2 1 149029842A> G null E G 2426 2426 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782774522 1q21.2 1 149029841G> A null E K 2426 2426 missense 0.665 possibly damaging 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782774522 1q21.2 1 149029841G> C null E Q 2426 2426 missense 0.398 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782089136 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.2 1 149029844C> T null R * 2427 2427 stop gained 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs3863691 1q21.2 1 149029845G> A null R Q 2427 2427 missense 0.005 benign 0.52 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782260468 1q21.2 1 149029850C> T null L F 2429 2429 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634665 1q21.2 1 149029853C> T null Q * 2430 2430 stop gained 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634677 1q21.2 1 149029860C> T null T I 2432 2432 missense 0.892 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs78371650 1q21.2 1 149029862A> G null T A 2433 2433 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs140693807 1q21.2 1 149029863C> T null T I 2433 2433 9.98E-4 missense 0.018 benign 0.24 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634690 1q21.2 1 149029866A> G null E G 2434 2434 missense 0.631 possibly damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs111954372 1q21.2 1 149029869A> G null H R 2435 2435 missense 0.0 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs201615092 1q21.2 1 149029872T> C null L P 2436 2436 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782537337 1q21.2 1 149029871C> G null L V 2436 2436 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151058495 1q21.2 1 149029878A> T null N I 2438 2438 9.98E-4 missense 0.116 benign 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147331822 1q21.2 1 149029879C> A null N K 2438 2438 missense 0.056 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151058495 1q21.2 1 149029878A> C null N T 2438 2438 9.98E-4 missense 0.0 benign 0.99 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782798810 1q21.2 1 149029881C> A null A D 2439 2439 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs377325794 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149029880G> A null A T 2439 2439 missense 0.051 benign 1.0 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs200934017 1q21.2 1 149029885C> A null N K 2440 2440 2.0E-4 missense 0.038 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,TOPMed,gnomAD rs200934017 1q21.2 1 149029885C> G null N K 2440 2440 2.0E-4 missense 0.038 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782112519 1q21.2 1 149029884A> G null N S 2440 2440 missense 0.039 benign 0.51 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782694509 1q21.2 1 149029888G> T null Q H 2441 2441 missense 0.964 probably damaging 0.05 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781918365 1q21.2 1 149029886C> A null Q K 2441 2441 missense 0.451 possibly damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782326932 1q21.2 1 149029887A> G null Q R 2441 2441 missense 0.059 benign 0.62 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,gnomAD rs373684197 1q21.2 1 149029889C> T null Q * 2442 2442 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1300618659 1q21.2 1 149029890A> G null Q R 2442 2442 missense 0.015 benign 0.42 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782271067 1q21.2 1 149029893A> T null K M 2443 2443 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634806 1q21.2 1 149029892A> C null K Q 2443 2443 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782496592 1q21.2 1 149029896A> T null E V 2444 2444 missense 0.83 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634845 1q21.2 1 149029898A> G null S G 2445 2445 missense 0.177 benign 0.05 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781795727 1q21.2 1 149029900C> A null S R 2445 2445 missense 0.724 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782650305 1q21.2 1 149029903G> A null M I 2446 2446 missense 0.652 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs781848710 1q21.2 1 149029905A> G null E G 2447 2447 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782555109 1q21.2 1 149029904G> A null E K 2447 2447 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,TOPMed rs370895302 1q21.2 1 149029907C> T null Q * 2448 2448 stop gained 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1475855790 1q21.2 1 149029908A> T null Q L 2448 2448 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1475855790 1q21.2 1 149029908A> C null Q P 2448 2448 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634959 1q21.2 1 149029914T> C null I T 2450 2450 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1416567303 1q21.2 1 149029913A> G null I V 2450 2450 missense 0.203 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782066980 1q21.2 1 149029916G> T null V F 2451 2451 missense 0.048 benign 0.23 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782066980 1q21.2 1 149029916G> A null V I 2451 2451 missense 0.048 benign 0.16 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782019162 1q21.2 1 149029919A> G null S G 2452 2452 missense 0.029 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs376455328 1q21.2 1 149029924G> C null Q H 2453 2453 missense 0.086 benign 0.37 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553634988 1q21.2 1 149029923A> C null Q P 2453 2453 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ESP,ExAC,TOPMed,gnomAD rs373709282 1q21.2 1 149029925C> A null L I 2454 2454 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553635563 1q21.2 1 149030232T> C null L P 2454 2454 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782035675 1q21.2 1 149030235C> T null T I 2455 2455 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782375984 1q21.2 1 149030237A> G null R G 2456 2456 missense 0.986 probably damaging 0.03 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1436179685 1q21.2 1 149030238G> C null R T 2456 2456 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782607564 1q21.2 1 149030241C> T null T I 2457 2457 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782607564 1q21.2 1 149030241C> A null T K 2457 2457 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782501080 1q21.2 1 149030245T> G null H Q 2458 2458 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1391090339 1q21.2 1 149030244A> G null H R 2458 2458 missense 0.676 possibly damaging 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782182368 1q21.2 1 149030249G> A null V I 2460 2460 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782182368 1q21.2 1 149030249G> C null V L 2460 2460 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782600939 1q21.2 1 149030258A> G null K E 2463 2463 missense 0.877 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782535743 1q21.2 1 149030260G> T null K N 2463 2463 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782772577 1q21.2 1 149030262C> A null A E 2464 2464 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781847479 1q21.2 1 149030261G> A null A T 2464 2464 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782772577 1q21.2 1 149030262C> T null A V 2464 2464 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1367449743 1q21.2 1 149030266G> C null R S 2465 2465 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1367449743 1q21.2 1 149030266G> T null R S 2465 2465 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553635662 cosmic curated [Cosmic]: lung cosmic_study:417 1q21.2 1 149030267A> T null T S 2466 2466 missense 0.685 possibly damaging 0.18 tolerated 1 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553635671 1q21.2 1 149030272C> G null N K 2467 2467 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1450993136 1q21.2 1 149030273T> A null L I 2468 2468 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553635682 1q21.2 1 149030276G> A null E K 2469 2469 missense 0.275 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781812056 1q21.2 1 149031944G> T null V L 2470 2470 missense 0.014 benign 0.17 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781812056 1q21.2 1 149031944G> A null V M 2470 2470 missense 0.059 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553638483 1q21.2 1 149031947A> C null K Q 2471 2471 missense 0.272 benign 0.11 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782173777 1q21.2 1 149031951C> T null S F 2472 2472 missense 0.029 benign 0.04 deleterious 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553638497 1q21.2 1 149031950T> C null S P 2472 2472 missense 0.237 benign 0.06 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782173777 1q21.2 1 149031951C> A null S Y 2472 2472 missense 0.459 possibly damaging 0.0 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781862801 1q21.2 1 149031953C> A null L I 2473 2473 missense 0.003 benign 0.39 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781862801 1q21.2 1 149031953C> G null L V 2473 2473 missense 0.005 benign 0.5 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781914282 1q21.2 1 149031959G> C null A P 2475 2475 missense 0.012 benign 0.15 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs781914282 1q21.2 1 149031959G> T null A S 2475 2475 missense 0.007 benign 0.36 tolerated 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ExAC,gnomAD rs148370554 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 149031966C> T null P L 2477 2477 0.03295 missense 0.012 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782711531 1q21.2 1 149031965C> A null P T 2477 2477 missense 0.031 benign 0.08 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1487964383 1q21.2 1 149031968T> G null C G 2478 2478 missense 0.003 benign 0.07 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed,gnomAD rs1487964383 1q21.2 1 149031968T> C null C R 2478 2478 missense 0.003 benign 0.1 tolerated 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553638562 1q21.2 1 149031969G> A null C Y 2478 2478 missense 0.382 benign 0.13 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,gnomAD rs782374818 1q21.2 1 149031972C> G null T S 2479 2479 missense 0.012 benign 0.59 tolerated 0 A0A075B749 PDE4DIP Myomegalin ESP,gnomAD rs143359447 1q21.2 1 149031974C> T null P S 2480 2480 missense 0.121 benign 0.01 deleterious 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782356397 1q21.2 1 149031978C> G null A G 2481 2481 missense 0.012 benign 0.14 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC rs781956595 1q21.2 1 149031977G> T null A S 2481 2481 missense 0.287 benign 0.25 tolerated 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782356397 1q21.2 1 149031978C> T null A V 2481 2481 missense 0.012 benign 0.33 tolerated 0 A0A075B749 PDE4DIP Myomegalin TOPMed rs1314162623 1q21.2 1 149031982G> C null L F 2482 2482 missense 0.642 possibly damaging 0.01 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145452098 1q21.2 1 149031980T> A null L M 2482 2482 0.002396 missense 0.339 benign 0.13 tolerated - low confidence 0 A0A075B749 PDE4DIP Myomegalin gnomAD rs1553638625 1q21.2 1 149031981T> C null L S 2482 2482 missense 0.034 benign 0.0 deleterious - low confidence 0 A0A075B749 PDE4DIP Myomegalin ExAC,TOPMed,gnomAD rs782590878 1q21.2 1 149031985A> G null * W 2483 2483 stop lost 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs924885741 18q21.1 18 49562352A> T null Y F 3 3 missense 0.437 benign 0.18 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs978738742 18q21.1 18 49562351T> A null Y N 3 3 missense 0.731 possibly damaging 0.01 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1429164751 18q21.1 18 49562354T> G null C G 4 4 missense 0.234 benign 0.0 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1468896281 18q21.1 18 49562355G> A null C Y 4 4 missense 0.465 possibly damaging 0.0 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1329327496 18q21.1 18 49562363G> A null A T 7 7 missense 0.615 possibly damaging 0.04 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes rs200145735 18q21.1 18 49562364C> T null A V 7 7 2.0E-4 missense 0.91 probably damaging 0.0 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ESP,TOPMed rs373088733 18q21.1 18 49562367G> A null G E 8 8 missense 0.767 possibly damaging 0.01 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs771159036 18q21.1 18 49562369A> G null S G 9 9 missense 0.061 benign 0.12 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs874566 18q21.1 18 49562371C> G null S R 9 9 0.04473 missense 0.937 probably damaging 0.02 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1275281430 18q21.1 18 49562373C> T null P L 10 10 missense 0.049 benign 0.07 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs770143868 18q21.1 18 49562379C> T null P L 12 12 missense 0.019 benign 0.07 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs9963243 18q21.1 18 49562384G> A null G S 14 14 0.01957 missense 0.379 benign 0.02 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs763518464 18q21.1 18 49562396C> T null R W 18 18 missense 0.048 benign 0.04 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs768343990 18q21.1 18 49562402G> A null E K 20 20 missense 0.03 benign 0.18 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs768343990 18q21.1 18 49562402G> C null E Q 20 20 missense 0.053 benign 0.2 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1175471470 18q21.1 18 49565317A> G null D G 21 21 missense 0.061 benign 0.14 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1250623096 18q21.1 18 49565319A> G null K E 22 22 missense 0.0 benign 0.84 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ExAC,gnomAD rs559112372 18q21.1 18 49565326A> T null H L 24 24 2.0E-4 missense 0.019 benign 0.07 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed,gnomAD rs1429687003 18q21.1 18 49565325C> T null H Y 24 24 missense 0.028 benign 0.04 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs200103565 18q21.1 18 49565334A> C null K Q 27 27 0.004992 missense 0.452 possibly damaging 0.14 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1387805423 18q21.1 18 49565340A> G null T A 29 29 missense 0.006 benign 0.3 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) Ensembl rs372962062 18q21.1 18 49565349G> A null E K 32 32 missense 0.284 benign 0.66 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs767601561 18q21.1 18 49565352G> T null V F 33 33 missense 0.458 possibly damaging 0.55 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs767601561 18q21.1 18 49565352G> A null V I 33 33 missense 0.021 benign 0.31 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs756342921 18q21.1 18 49565362C> G null S C 36 36 missense 0.951 probably damaging 0.01 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1324775053 18q21.1 18 49565369G> T null R S 38 38 missense 0.061 benign 0.07 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1225719159 18q21.1 18 49565371T> C null F S 39 39 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1260314080 18q21.1 18 49565373A> C null N H 40 40 missense 0.211 benign 0.08 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed,gnomAD rs1350503651 18q21.1 18 49565375C> A null N K 40 40 missense 0.343 benign 0.66 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375653841 18q21.1 18 49565374A> G null N S 40 40 missense 0.259 benign 0.68 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) Ensembl rs150530916 18q21.1 18 49565377T> C null L P 41 41 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs61761314 18q21.1 18 49565379C> T null R C 42 42 2.0E-4 missense 0.148 benign 0.02 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs755353378 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.1 18 49565380G> A null R H 42 42 missense 0.221 benign 0.05 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs755353378 18q21.1 18 49565380G> T null R L 42 42 missense 0.804 possibly damaging 0.1 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs779583435 18q21.1 18 49565385T> C null S P 44 44 missense 0.975 probably damaging 0.26 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs748635663 18q21.1 18 49565389A> G null K R 45 45 missense 0.03 benign 0.25 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs771551602 18q21.1 18 49565393C> A null D E 46 46 missense 0.947 probably damaging 0.15 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1369488728 18q21.1 18 49565395C> A null P Q 47 47 missense 0.721 possibly damaging 0.04 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs772765923 18q21.1 18 49565394C> T null P S 47 47 missense 0.612 possibly damaging 0.1 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1363166032 18q21.1 18 49565399G> T null E D 48 48 missense 0.17 benign 0.51 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs746449926 18q21.1 18 49565409T> C null C R 52 52 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs148742404 18q21.1 18 49565411C> G null C W 52 52 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1159248194 18q21.1 18 49565410G> A null C Y 52 52 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs776228878 18q21.1 18 49565415C> G null L V 54 54 missense 0.977 probably damaging 0.04 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs867043858 18q21.1 18 49565419C> G null S C 55 55 missense 0.981 probably damaging 0.05 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs867043858 18q21.1 18 49565419C> T null S F 55 55 missense 0.25 benign 0.11 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs759351636 18q21.1 18 49565421G> T null V F 56 56 missense 0.022 benign 0.61 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs759351636 18q21.1 18 49565421G> A null V I 56 56 missense 0.013 benign 0.39 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202204825 18q21.1 18 49565424G> T null G C 57 57 2.0E-4 missense 0.447 possibly damaging 0.04 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) Ensembl rs867730298 18q21.1 18 49565425G> A null G D 57 57 missense 0.149 benign 0.06 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202204825 18q21.1 18 49565424G> A null G S 57 57 2.0E-4 missense 0.345 benign 0.08 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1459984874 18q21.1 18 49565429C> A null H Q 58 58 missense 0.381 benign 0.62 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs750529597 18q21.1 18 49565430A> C null S R 59 59 missense 0.593 possibly damaging 0.49 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61729804 18q21.1 18 49565437C> T null P L 61 61 7.99E-4 missense 0.017 benign 0.36 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs756080340 18q21.1 18 49565436C> T null P S 61 61 missense 0.053 benign 0.76 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1254773499 18q21.1 18 49565444A> T null E D 63 63 missense 0.234 benign 0.16 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1490720245 18q21.1 18 49565450C> G null C W 65 65 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200444339 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.1 18 49565458A> G null N S 68 68 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs755435376 18q21.1 18 49565462G> A null M I 69 69 missense 0.056 benign 0.24 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1249504598 18q21.1 18 49565461T> C null M T 69 69 missense 0.061 benign 0.65 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC rs779417520 18q21.1 18 49565464C> A null T K 70 70 missense 1.0 probably damaging 0.06 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed,gnomAD rs1366629535 18q21.1 18 49565467C> T null A V 71 71 missense 0.987 probably damaging 0.24 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1259403101 18q21.1 18 49565471A> C null K N 72 72 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs758959637 18q21.1 18 49565470A> C null K T 72 72 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs778078674 18q21.1 18 49565481A> T null I F 76 76 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs778078674 18q21.1 18 49565481A> G null I V 76 76 missense 0.175 benign 0.17 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs770383951 18q21.1 18 49565487C> A null H N 78 78 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs769638861 18q21.1 18 49565491G> A null G E 79 79 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs745486229 18q21.1 18 49565490G> A null G R 79 79 missense 0.668 possibly damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147973057 18q21.1 18 49565497C> A null T K 81 81 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147973057 18q21.1 18 49565497C> T null T M 81 81 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144341306 18q21.1 18 49567447C> G null S R 83 83 5.99E-4 missense 0.964 probably damaging 0.01 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ESP,ExAC,TOPMed,dbSNP,gnomAD rs150879681 pubmed:12966036 18q21.1 18 49567448G> A null G S 84 84 missense 0.866 possibly damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs768287354 18q21.1 18 49567449G> T null G V 84 84 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1238631964 18q21.1 18 49567458A> C null E A 87 87 missense 0.347 benign 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1173022808 18q21.1 18 49567470A> C null H P 91 91 missense 0.905 possibly damaging 0.24 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1408932065 18q21.1 18 49567479T> C null V A 94 94 missense 0.901 possibly damaging 0.19 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs776866582 18q21.1 18 49567478G> A null V M 94 94 missense 0.864 possibly damaging 0.01 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1260237461 18q21.1 18 49567488T> G null L R 97 97 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1426284437 18q21.1 18 49567490C> A null H N 98 98 missense 0.352 benign 0.12 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed,gnomAD rs1287718177 18q21.1 18 49567492C> G null H Q 98 98 missense 0.007 benign 1.0 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ESP,TOPMed,dbSNP,gnomAD rs2000813 pubmed:12966036 18q21.1 18 49567494C> T null T I 99 99 0.2406 missense 0.367 benign 0.09 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ESP,TOPMed,gnomAD rs2000813 18q21.1 18 49567494C> A null T K 99 99 0.2406 missense 0.864 possibly damaging 0.44 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs201002261 18q21.1 18 49567496A> G null R G 100 100 missense 1.0 probably damaging 0.05 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs765591312 18q21.1 18 49567497G> A null R K 100 100 missense 0.999 probably damaging 0.05 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) Ensembl,NCI-TCGA rs766943263 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.1 18 49567499G> C null E Q 101 101 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs111384586 18q21.1 18 49567508G> C null A P 104 104 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs111384586 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.1 18 49567508G> A null A T 104 104 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs764338806 18q21.1 18 49567513T> A null N K 105 105 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1213756088 18q21.1 18 49567520G> T null V L 108 108 missense 0.999 probably damaging 0.21 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs757743655 18q21.1 18 49567531G> A null W * 111 111 stop gained 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed,gnomAD rs1486336727 18q21.1 18 49567535C> T null P S 113 113 missense 0.652 possibly damaging 0.56 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1188552276 18q21.1 18 49567547C> G null Q E 117 117 missense 0.805 possibly damaging 0.02 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) Ensembl rs903519560 18q21.1 18 49567556A> G null T A 120 120 missense 0.511 possibly damaging 0.33 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs781619069 18q21.1 18 49567557C> T null T M 120 120 missense 0.396 benign 0.04 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC rs755579184 18q21.1 18 49567559G> A null D N 121 121 missense 0.976 probably damaging 0.3 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ESP,NCI-TCGA,TOPMed,gnomAD rs144530815 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.1 18 49567562G> A null A T 122 122 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs779776450 18q21.1 18 49567563C> T null A V 122 122 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs768534590 18q21.1 18 49567569A> G null N S 124 124 missense 0.919 probably damaging 0.04 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) Ensembl rs534085780 18q21.1 18 49567572A> C null N T 125 125 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1431251685 18q21.1 18 49567574A> G null T A 126 126 missense 0.805 possibly damaging 0.04 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs772141690 18q21.1 18 49567577A> G null R G 127 127 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs773246113 18q21.1 18 49567583G> T null V L 129 129 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed,gnomAD rs1223108521 18q21.1 18 49567591C> G null H Q 131 131 missense 0.086 benign 0.95 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed,gnomAD rs1223108521 18q21.1 18 49567591C> A null H Q 131 131 missense 0.086 benign 0.95 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs769744037 18q21.1 18 49567589C> T null H Y 131 131 missense 0.071 benign 0.07 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1307585859 18q21.1 18 49567606G> A null M I 136 136 missense 0.805 possibly damaging 0.02 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs553622811 18q21.1 18 49567610G> A null D N 138 138 missense 0.267 benign 0.35 tolerated 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs186693251 18q21.1 18 49567615G> T null W C 139 139 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC rs762095332 18q21.1 18 49567617T> G null L R 140 140 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs750878428 18q21.1 18 49567622G> A null V I 142 142 missense 0.112 benign 0.04 deleterious 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1409338863 18q21.1 18 49567629G> C null G A 144 144 missense 0.558 possibly damaging 0.11 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs754599971 18q21.1 18 49567633T> A null D E 145 145 missense 0.22 benign 0.12 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs753584770 18q21.1 18 49567632A> T null D V 145 145 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1304769036 18q21.1 18 49567638G> A null R K 147 147 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1441185591 18q21.1 18 49567644C> T null S F 149 149 missense 0.0 unknown 0.53 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ESP,ExAC,gnomAD rs370279206 18q21.1 18 49567649G> C null V L 151 151 missense 0.0 unknown 0.33 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1242421061 18q21.1 18 49567652A> G null T A 152 152 missense 0.0 unknown 0.37 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) Ensembl rs1049922791 18q21.1 18 49567662T> A null I N 155 155 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1329720166 18q21.1 18 49567661A> G null I V 155 155 missense 0.0 unknown 0.19 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1382690010 18q21.1 18 49567668A> G null N S 157 157 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs574768299 18q21.1 18 49567675C> G null I M 159 159 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) 1000Genomes,ESP,TOPMed,gnomAD rs146599368 18q21.1 18 49567673A> G null I V 159 159 0.001398 missense 0.0 unknown 0.43 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs746916501 18q21.1 18 49567680T> G null L * 161 161 stop gained 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs746916501 18q21.1 18 49567680T> C null L S 161 161 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs769986688 18q21.1 18 49567683G> C null R T 162 162 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1247041183 18q21.1 18 49567689C> A null A E 164 164 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed,gnomAD rs1292264618 18q21.1 18 49567692G> C null G A 165 165 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed,gnomAD rs1292264618 18q21.1 18 49567692G> T null G V 165 165 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs775415575 18q21.1 18 49567695A> G null H R 166 166 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1204263239 18q21.1 18 49567698C> A null A E 167 167 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1459438478 18q21.1 18 49567712A> G null N D 172 172 missense 0.0 unknown 0.1 tolerated - low confidence 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,TOPMed,gnomAD rs772819467 18q21.1 18 49567720G> A null W * 174 174 stop gained 0 A0A075B751 LIPG Phospholipase A1 (Fragment) Ensembl rs896992928 18q21.1 18 49567719G> A null W * 174 174 stop gained 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs768763541 18q21.1 18 49567722G> T null S I 175 175 missense 0.0 unknown 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1379223827 18q21.1 18 49567725T> G null L R 176 176 missense 0.0 unknown 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs774514350 18q21.1 18 49567739G> T null E * 181 181 stop gained 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs774514350 18q21.1 18 49567739G> C null E Q 181 181 missense 0.0 unknown 0 A0A075B751 LIPG Phospholipase A1 (Fragment) gnomAD rs1165103931 18q21.1 18 49567749G> A null S N 184 184 missense 0.0 unknown 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1480916090 18q21.1 18 49567750T> G null S R 184 184 missense 0.0 unknown 0 A0A075B751 LIPG Phospholipase A1 (Fragment) TOPMed rs1262524017 18q21.1 18 49567752T> G null F C 185 185 missense 0.0 unknown 0 A0A075B751 LIPG Phospholipase A1 (Fragment) ExAC,gnomAD rs760365724 18q21.1 18 49567755T> C null I T 186 186 missense 0.0 unknown 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1212253751 10q11.22 10 46375859G> A null W * 3 3 stop gained 0 A0A075B752 ANXA8L1 Annexin TOPMed rs200576154 10q11.22 10 46375867G> T null A S 6 6 missense 0.031 benign 0.12 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1227415225 10q11.22 10 46375871G> A null W * 7 7 stop gained 0 A0A075B752 ANXA8L1 Annexin Ensembl rs1565092338 10q11.22 10 46379957A> C null K Q 32 32 missense 0.913 probably damaging 0.04 deleterious 0 A0A075B752 ANXA8L1 Annexin gnomAD rs2670516 10q11.22 10 46379957A> C null K Q 32 32 missense 0.913 probably damaging 0.04 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1489137815 10q11.22 10 46381037G> A null G R 40 40 missense 0.014 benign 0.38 tolerated - low confidence 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1286529069 10q11.22 10 46381061G> A null A T 48 48 missense 0.025 benign 0.5 tolerated - low confidence 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1241138955 10q11.22 10 46381067G> T null A S 50 50 missense 0.005 benign 0.69 tolerated - low confidence 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1241138955 10q11.22 10 46381067G> A null A T 50 50 missense 0.007 benign 0.5 tolerated - low confidence 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1235429550 10q11.22 10 46381073G> A null A T 52 52 missense 0.005 benign 0.39 tolerated - low confidence 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1403691434 10q11.22 10 46381088G> T null A S 57 57 missense 0.013 benign 0.44 tolerated - low confidence 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1403691434 10q11.22 10 46381088G> A null A T 57 57 missense 0.018 benign 0.41 tolerated - low confidence 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1299253558 10q11.22 10 46381098G> A null S N 60 60 missense 0.009 benign 0.34 tolerated - low confidence 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1419494125 10q11.22 10 46381107C> T null P L 63 63 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1173999029 10q11.22 10 46381110G> T null W L 64 64 missense 0.023 benign 0.17 tolerated - low confidence 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1376621159 10q11.22 10 46381116A> C null Q P 66 66 missense 0.006 benign 0.3 tolerated - low confidence 0 A0A075B752 ANXA8L1 Annexin Ensembl rs1554974623 10q11.22 10 46381119A> G null Q R 67 67 missense 0.003 benign 0.59 tolerated - low confidence 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1197147020 10q11.22 10 46381138C> A null N K 73 73 missense 0.0 benign 0.29 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1478798013 10q11.22 10 46381143C> T null A V 75 75 missense 0.022 benign 0.12 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1282377828 10q11.22 10 46381182A> G null K R 88 88 missense 0.005 benign 0.39 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1202422525 10q11.22 10 46381194C> A null T K 92 92 missense 0.003 benign 0.64 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1202422525 10q11.22 10 46381194C> G null T R 92 92 missense 0.109 benign 0.23 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1282773395 10q11.22 10 46381200G> C null R P 94 94 missense 0.127 benign 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1282773395 10q11.22 10 46381200G> A null R Q 94 94 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1345781844 10q11.22 10 46381199C> T null R W 94 94 missense 0.078 benign 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1243327923 10q11.22 10 46382582C> G null L V 109 109 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1182626086 10q11.22 10 46382585A> G null T A 110 110 missense 0.023 benign 0.08 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1459578049 10q11.22 10 46382603G> A null E K 116 116 missense 0.823 possibly damaging 0.01 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1196306282 10q11.22 10 46382619T> C null F S 121 121 missense 0.599 possibly damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1480302626 10q11.22 10 46382631T> C null I T 125 125 missense 0.735 possibly damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed,gnomAD rs1249561826 10q11.22 10 46382643T> A null M K 129 129 missense 0.029 benign 0.01 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed,gnomAD rs1249561826 10q11.22 10 46382643T> C null M T 129 129 missense 0.373 benign 0.01 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1322128207 10q11.22 10 46382649C> T null P L 131 131 missense 0.111 benign 0.02 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1333510158 10q11.22 10 46382663G> A null E K 136 136 missense 0.578 possibly damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1296987271 10q11.22 10 46382684G> A null A T 143 143 missense 0.84 possibly damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1321138327 10q11.22 10 46383465A> G null T A 149 149 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1382587521 10q11.22 10 46383473G> C null E D 151 151 missense 0.96 probably damaging 0.05 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1382587521 10q11.22 10 46383473G> T null E D 151 151 missense 0.96 probably damaging 0.05 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1288547299 10q11.22 10 46383480A> G null I V 154 154 missense 0.024 benign 0.02 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1432933133 10q11.22 10 46383496C> T null A V 159 159 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1469800713 10q11.22 10 46383502G> A null R Q 161 161 missense 0.263 benign 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1408453816 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 46383501C> T null R W 161 161 missense 0.171 benign 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1172900789 10q11.22 10 46383509G> T null K N 163 163 missense 0.059 benign 1.0 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1376272324 10q11.22 10 46383507A> C null K Q 163 163 missense 0.708 possibly damaging 0.01 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1186334006 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 46383520G> A null R Q 167 167 missense 0.003 benign 0.37 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1418288940 10q11.22 10 46383519C> T null R W 167 167 missense 0.761 possibly damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed,dbSNP rs201596209 pubmed:14702039 10q11.22 10 46383535C> T null A V 172 172 missense 0.566 possibly damaging 0.51 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1287684486 10q11.22 10 46384777A> G null S G 204 204 missense 0.516 possibly damaging 0.36 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1407716058 10q11.22 10 46384779C> A null S R 204 204 missense 0.84 possibly damaging 0.02 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1347203692 10q11.22 10 46384781G> A null R K 205 205 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1437524493 10q11.22 10 46384790T> C null V A 208 208 missense 0.007 benign 0.77 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1349527111 10q11.22 10 46384795A> C null S R 210 210 missense 0.021 benign 0.52 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1402555470 10q11.22 10 46384801G> A null V M 212 212 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1159133474 10q11.22 10 46384807C> G null P A 214 214 missense 0.012 benign 0.52 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1471798287 10q11.22 10 46384808C> T null P L 214 214 missense 0.021 benign 0.2 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed,dbSNP rs1487921382 10q11.22 10 46384811C> G null A G 215 215 missense 0.0 benign 0.58 tolerated 0 A0A075B752 ANXA8L1 Annexin Ensembl rs1554974924 10q11.22 10 46384810G> C null A P 215 215 missense 0.602 possibly damaging 0.12 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1487921382 10q11.22 10 46384811C> T null A V 215 215 missense 0.322 benign 0.13 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1217264124 10q11.22 10 46384817C> T null A V 217 217 missense 0.024 benign 0.65 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1226568471 10q11.22 10 46384825G> C null D H 220 220 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1283615360 10q11.22 10 46384828G> A null A T 221 221 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1218428941 10q11.22 10 46384831C> T null Q * 222 222 stop gained 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1199110926 10q11.22 10 46385380G> A null D N 223 223 missense 0.777 possibly damaging 0.21 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1274932501 10q11.22 10 46385386T> C null Y H 225 225 missense 0.073 benign 0.05 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1285876302 10q11.22 10 46385398G> A null E K 229 229 missense 0.321 benign 0.02 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed,dbSNP rs1249096344 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:15164054 10q11.22 10 46385403G> T null K N 230 230 missense 0.043 benign 0.46 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1331876224 10q11.22 10 46385447C> T null T M 245 245 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1411464466 10q11.22 10 46385449C> T null R C 246 246 missense 0.312 benign 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1372588826 10q11.22 10 46385450G> A null R H 246 246 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1169519205 10q11.22 10 46385454T> G null S R 247 247 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1429152605 10q11.22 10 46385458A> T null T S 249 249 missense 0.025 benign 0.63 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1165498997 10q11.22 10 46385471G> A null R K 253 253 missense 0.045 benign 0.86 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1329592073 10q11.22 10 46385732A> G null I V 261 261 missense 0.511 possibly damaging 0.11 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1226353742 10q11.22 10 46385740C> A null N K 263 263 missense 0.381 benign 0.14 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1324453909 10q11.22 10 46385804G> C null V L 285 285 missense 0.577 possibly damaging 0.03 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1228089765 10q11.22 10 46387602C> G null N K 291 291 missense 0.406 benign 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1309454283 10q11.22 10 46387637C> T null A V 303 303 missense 0.462 possibly damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1474100883 10q11.22 10 46388393G> C null G R 306 306 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1413983375 10q11.22 10 46388403C> T null T M 309 309 missense 0.611 possibly damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1473004342 10q11.22 10 46388405C> T null R C 310 310 missense 0.005 benign 0.04 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1250121526 10q11.22 10 46388421T> G null I R 315 315 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1489537009 10q11.22 10 46388433T> C null V A 319 319 missense 0.681 possibly damaging 0.01 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1489537009 10q11.22 10 46388433T> A null V D 319 319 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1194104896 10q11.22 10 46388432G> A null V I 319 319 missense 0.062 benign 0.04 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1213682734 10q11.22 10 46388448T> C null I T 324 324 missense 0.024 benign 0.04 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1290523246 10q11.22 10 46388465A> G null K E 330 330 missense 0.673 possibly damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1229428918 10q11.22 10 46388466A> G null K R 330 330 missense 0.052 benign 1.0 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1349440565 10q11.22 10 46388480A> G null K E 335 335 missense 0.067 benign 0.18 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1387976613 10q11.22 10 46388482G> C null K N 335 335 missense 0.691 possibly damaging 0.08 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1304477310 10q11.22 10 46388481A> G null K R 335 335 missense 0.077 benign 0.73 tolerated 0 A0A075B752 ANXA8L1 Annexin TOPMed rs1292858838 10q11.22 10 46388513A> T null M L 346 346 missense 0.003 benign 0.08 tolerated 0 A0A075B752 ANXA8L1 Annexin gnomAD rs1554975573 10q11.22 10 46390871G> T null E * 347 347 stop gained 0 A0A075B752 ANXA8L1 Annexin gnomAD rs1554975576 10q11.22 10 46390874G> A null D N 348 348 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin gnomAD rs1554975578 10q11.22 10 46390878C> A null T N 349 349 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin ExAC,gnomAD rs782517105 10q11.22 10 46390886G> A null D N 352 352 missense 0.299 benign 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin ExAC,gnomAD rs782517105 10q11.22 10 46390886G> T null D Y 352 352 missense 0.299 benign 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin gnomAD rs1554975586 10q11.22 10 46390889T> C null Y H 353 353 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B752 ANXA8L1 Annexin ExAC,gnomAD rs782746587 10q11.22 10 46390899C> A null A D 356 356 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed,gnomAD rs1554975591 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 46390898G> A null A T 356 356 missense 0.075 benign 0.26 tolerated 0 A0A075B752 ANXA8L1 Annexin ExAC,gnomAD rs782746587 10q11.22 10 46390899C> T null A V 356 356 missense 0.782 possibly damaging 0.82 tolerated 0 A0A075B752 ANXA8L1 Annexin ExAC,gnomAD rs782164279 10q11.22 10 46390909C> A null S R 359 359 missense 0.062 benign 0.46 tolerated 0 A0A075B752 ANXA8L1 Annexin gnomAD rs1554975597 10q11.22 10 46390916G> A null G S 362 362 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B752 ANXA8L1 Annexin TOPMed,gnomAD rs1476972250 10q11.22 10 46390924C> A null D E 364 364 missense 0.024 benign 0.33 tolerated 0 A0A075B752 ANXA8L1 Annexin ExAC,TOPMed,gnomAD rs782379512 10q11.22 10 46390922G> A null D N 364 364 missense 0.062 benign 0.37 tolerated 0 A0A075B752 ANXA8L1 Annexin gnomAD rs1554975607 10q11.22 10 46390927_46390928de l null * R 366 366 stop lost 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs951882935 17q11.2 17 30832351G> T null V L 2 2 missense 0.978 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs768732266 17q11.2 17 30832355G> C null G A 3 3 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs768732266 17q11.2 17 30832355G> A null G E 3 3 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs762253259 17q11.2 17 30832357G> T null V F 4 4 missense 0.64 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs762253259 17q11.2 17 30832357G> A null V I 4 4 missense 0.018 benign 0.13 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1369552395 17q11.2 17 30832367T> A null M K 7 7 missense 0.715 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs961725963 17q11.2 17 30832366A> G null M V 7 7 missense 0.041 benign 0.14 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1408059954 17q11.2 17 30832378G> A null A T 11 11 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs535357020 17q11.2 17 30832384C> G null P A 13 13 2.0E-4 missense 0.76 possibly damaging 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs765041391 17q11.2 17 30832385C> T null P L 13 13 missense 0.098 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs535357020 17q11.2 17 30832384C> T null P S 13 13 2.0E-4 missense 0.761 possibly damaging 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1274796813 17q11.2 17 30832387C> T null P S 14 14 missense 0.335 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs778055466 17q11.2 17 30832391C> T null P L 15 15 missense 0.028 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1341701634 17q11.2 17 30832394T> G null V G 16 16 missense 0.007 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1366255870 17q11.2 17 30832401C> G null D E 18 18 missense 0.028 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1276815235 17q11.2 17 30832399G> T null D Y 18 18 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1326107615 17q11.2 17 30834151T> C null C R 24 24 missense 0.132 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs202001252 17q11.2 17 30834152G> A null C Y 24 24 2.0E-4 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs773772562 17q11.2 17 30834160C> T null R * 27 27 stop gained 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs761379822 17q11.2 17 30834161G> A null R Q 27 27 missense 0.033 benign 0.21 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1012314089 17q11.2 17 30834164A> C null K T 28 28 missense 0.046 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs371288855 17q11.2 17 30834167A> G null K R 29 29 missense 0.007 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1301816762 17q11.2 17 30834170A> T null D V 30 30 missense 0.855 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1436287087 17q11.2 17 30834172G> C null D H 31 31 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1323046269 17q11.2 17 30834173A> T null D V 31 31 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1244400239 17q11.2 17 30834176A> G null D G 32 32 missense 0.516 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs200684468 17q11.2 17 30834178A> G null T A 33 33 2.0E-4 missense 0.001 benign 0.35 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1358594596 17q11.2 17 30834182C> G null S C 34 34 missense 0.72 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs9910051 17q11.2 17 30834184A> T null T S 35 35 0.2879 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1210347234 17q11.2 17 30834190A> G null K E 37 37 missense 0.007 benign 0.23 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1441456440 17q11.2 17 30834197T> C null I T 39 39 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1253880633 17q11.2 17 30834196A> G null I V 39 39 missense 0.978 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs755236290 17q11.2 17 30834200C> T null T I 40 40 missense 0.425 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs758520362 17q11.2 17 30834210A> C null L F 43 43 missense 0.031 benign 0.69 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs758520362 17q11.2 17 30834210A> T null L F 43 43 missense 0.031 benign 0.69 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs748236533 17q11.2 17 30834208T> G null L V 43 43 missense 0.388 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,gnomAD rs536643287 17q11.2 17 30834221G> A null G E 47 47 2.0E-4 missense 0.003 benign 0.22 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs771516091 17q11.2 17 30834220G> A null G R 47 47 missense 0.003 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs994778822 17q11.2 17 30834226A> G null T A 49 49 missense 0.1 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes rs199951310 17q11.2 17 30834227C> T null T I 49 49 2.0E-4 missense 0.879 possibly damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1567675700 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 17q11.2 17 30834230G> C null R T 50 50 missense 0.012 benign 0.22 tolerated 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1173747179 17q11.2 17 30834233A> G null D G 51 51 missense 0.012 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1357378772 17q11.2 17 30834237G> C null R S 52 52 missense 0.003 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1335125424 17q11.2 17 30834236G> C null R T 52 52 missense 0.039 benign 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs746203168 17q11.2 17 30834239T> G null V G 53 53 missense 0.399 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs768488803 17q11.2 17 30834244G> C null A P 55 55 missense 0.107 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs768488803 17q11.2 17 30834244G> A null A T 55 55 missense 0.039 benign 0.09 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1329753735 17q11.2 17 30834247C> G null P A 56 56 missense 0.368 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1440157269 17q11.2 17 30834248C> T null P L 56 56 missense 0.741 possibly damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs774038335 17q11.2 17 30834256C> G null P A 59 59 missense 0.003 benign 0.26 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs761312681 17q11.2 17 30834257C> T null P L 59 59 missense 0.054 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs761312681 17q11.2 17 30834257C> G null P R 59 59 missense 0.109 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1200620213 17q11.2 17 30834269T> C null L P 63 63 missense 0.909 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1191718554 17q11.2 17 30834272A> G null D G 64 64 missense 0.255 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs772554254 17q11.2 17 30834275A> G null Y C 65 65 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs760624928 17q11.2 17 30834280A> G null R G 67 67 missense 0.321 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs777589464 17q11.2 17 30834286A> G null T A 69 69 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1431268072 17q11.2 17 30834287C> G null T S 69 69 missense 0.991 probably damaging 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1161951900 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30834293C> T null P L 71 71 missense 0.003 benign 0.48 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,gnomAD rs143186930 17q11.2 17 30834292C> T null P S 71 71 2.0E-4 missense 0.163 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs558493540 17q11.2 17 30834296C> A null T K 72 72 2.0E-4 missense 0.216 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs752970114 17q11.2 17 30834299A> T null N I 73 73 missense 0.233 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC rs758509618 17q11.2 17 30834301G> A null E K 74 74 missense 0.158 benign 0.13 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs777931894 17q11.2 17 30834308C> T null T I 76 76 missense 0.023 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs757879020 17q11.2 17 30834324G> C null E D 81 81 missense 0.006 benign 0.23 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs557643881 17q11.2 17 30834328A> G null K E 83 83 5.99E-4 missense 0.003 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs557643881 17q11.2 17 30834328A> C null K Q 83 83 5.99E-4 missense 0.116 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3816780 17q11.2 17 30834340C> T null P S 87 87 0.1725 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3816780 17q11.2 17 30834340C> A null P T 87 87 0.1725 missense 0.0 benign 0.05 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs374539641 17q11.2 17 30834347C> T null S L 89 89 missense 0.0 benign 0.24 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs771572182 17q11.2 17 30834352C> T null P S 91 91 missense 0.001 benign 0.27 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1204051735 17q11.2 17 30834356T> C null V A 92 92 missense 0.003 benign 0.44 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1274677465 17q11.2 17 30834358G> A null D N 93 93 missense 0.003 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs760177623 17q11.2 17 30834373T> C null C R 98 98 missense 0.467 possibly damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs770915651 17q11.2 17 30834376A> G null T A 99 99 missense 0.003 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs562433529 17q11.2 17 30834377C> T null T M 99 99 2.0E-4 missense 0.001 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1428025324 17q11.2 17 30834383C> G null P R 101 101 missense 0.564 possibly damaging 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs765114060 17q11.2 17 30834382C> T null P S 101 101 missense 0.01 benign 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1283084522 17q11.2 17 30834394T> G null F V 105 105 missense 0.058 benign 0.39 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs954559133 17q11.2 17 30834398C> T null S L 106 106 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1168226571 17q11.2 17 30834403G> A null V I 108 108 missense 0.0 benign 0.59 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs752385383 17q11.2 17 30834413A> C null K T 111 111 missense 0.563 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1340442312 17q11.2 17 30834415A> G null K E 112 112 missense 0.057 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs763286624 17q11.2 17 30834418A> C null K Q 113 113 missense 0.36 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1387331730 17q11.2 17 30834428G> A null R K 116 116 missense 0.037 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1387331730 17q11.2 17 30834428G> C null R T 116 116 missense 0.021 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs781362252 17q11.2 17 30834430G> T null V F 117 117 missense 0.325 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1486727006 17q11.2 17 30834431T> G null V G 117 117 missense 0.216 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs781362252 17q11.2 17 30834430G> A null V I 117 117 missense 0.007 benign 0.2 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1278301441 17q11.2 17 30834438A> T null L F 119 119 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1567675890 17q11.2 17 30834440C> G null S C 120 120 missense 0.01 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1210170166 17q11.2 17 30834439T> C null S P 120 120 missense 0.368 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs780484748 17q11.2 17 30834449T> C null L P 123 123 missense 0.98 probably damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1016372285 17q11.2 17 30834452A> G null N S 124 124 missense 0.005 benign 0.23 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs560055952 17q11.2 17 30834458T> C null I T 126 126 2.0E-4 missense 0.058 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1210995698 17q11.2 17 30834467A> C null E A 129 129 missense 0.079 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1353123131 17q11.2 17 30834475G> A null A T 132 132 missense 0.0 benign 0.41 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs145376542 17q11.2 17 30834478C> T null P S 133 133 missense 0.037 benign 0.19 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11080134 pubmed:15489334 17q11.2 17 30834485A> G null E G 135 135 0.1516 missense 0.444 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,TOPMed,gnomAD rs373741401 17q11.2 17 30834494G> C null S T 138 138 missense 0.255 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs769598020 17q11.2 17 30834496G> A null D N 139 139 missense 0.059 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147909444 17q11.2 17 30834499G> A null D N 140 140 5.99E-4 missense 0.826 possibly damaging 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs774726632 17q11.2 17 30834515A> G null Y C 145 145 missense 0.0 benign 0.35 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs762057400 17q11.2 17 30834518G> C null S T 146 146 missense 0.34 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1405576639 17q11.2 17 30834527A> G null N S 149 149 missense 0.007 benign 0.21 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs577386724 17q11.2 17 30834530A> G null D G 150 150 missense 0.003 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1486221093 17q11.2 17 30834539A> G null E G 153 153 missense 0.003 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs767734234 17q11.2 17 30834541A> G null S G 154 154 missense 0.005 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs750477216 17q11.2 17 30834542G> A null S N 154 154 missense 0.005 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1567675957 17q11.2 17 30834545G> C null S T 155 155 missense 0.003 benign 0.13 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs756690738 17q11.2 17 30834551C> A null S Y 157 157 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs754290871 17q11.2 17 30834557T> C null L S 159 159 missense 0.007 benign 0.17 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs564125064 17q11.2 17 30834559C> T null R C 160 160 missense 0.183 benign 0.14 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,NCI-TCGA,gnomAD rs375111527 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30834560G> A null R H 160 160 missense 0.0 benign 0.34 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs746696655 17q11.2 17 30834568A> G null K E 163 163 missense 0.007 benign 0.14 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs181925781 17q11.2 17 30834573A> C null Q H 164 164 3.99E-4 missense 0.0 benign 0.31 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1255494848 17q11.2 17 30834581T> A null V E 167 167 missense 0.006 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1424484379 17q11.2 17 30834598C> A null Q K 173 173 missense 0.0 benign 0.19 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1166925693 17q11.2 17 30834602A> G null D G 174 174 missense 0.122 benign 0.05 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs745340855 17q11.2 17 30834620A> G null N S 180 180 missense 0.0 benign 0.81 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs769837150 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30834623C> T null T I 181 181 missense 0.001 benign 0.22 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs769837150 17q11.2 17 30834623C> G null T S 181 181 missense 0.039 benign 0.2 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1346780124 17q11.2 17 30834625A> G null M V 182 182 missense 0.0 benign 0.98 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs914996435 17q11.2 17 30834629C> T null T I 183 183 missense 0.006 benign 0.54 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs749190277 17q11.2 17 30834632C> T null S F 184 184 missense 0.125 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs768574370 17q11.2 17 30834639A> C null Q H 186 186 missense 0.275 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1018482018 17q11.2 17 30834652G> A null V I 191 191 missense 0.6 possibly damaging 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1327407805 17q11.2 17 30834657T> A null N K 192 192 missense 0.005 benign 0.29 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs774244442 17q11.2 17 30834662A> G null K R 194 194 missense 0.321 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs759319232 17q11.2 17 30834671C> T null T I 197 197 missense 0.005 benign 0.21 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs760661424 17q11.2 17 30834677A> G null K R 199 199 missense 0.355 benign 0.05 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs766428559 17q11.2 17 30834680A> G null N S 200 200 missense 0.018 benign 0.23 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs766428559 17q11.2 17 30834680A> C null N T 200 200 missense 0.265 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1486159940 17q11.2 17 30834683A> G null D G 201 201 missense 0.202 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1190137442 17q11.2 17 30834689A> C null K T 203 203 missense 0.154 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1327704168 17q11.2 17 30834692A> G null K R 204 204 missense 0.01 benign 0.13 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs755474549 17q11.2 17 30834701A> T null K I 207 207 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs755474549 17q11.2 17 30834701A> G null K R 207 207 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1429262141 17q11.2 17 30834712A> G null R G 211 211 missense 0.039 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1433249412 17q11.2 17 30834722T> G null V G 214 214 missense 0.143 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1182841131 17q11.2 17 30834721G> A null V I 214 214 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1268785862 17q11.2 17 30834725A> G null D G 215 215 missense 0.003 benign 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,dbSNP,gnomAD rs367699401 pubmed:26282398 17q11.2 17 30834724G> A null D N 215 215 missense 0.343 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs367699401 17q11.2 17 30834724G> T null D Y 215 215 missense 0.781 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs755590738 17q11.2 17 30834743C> A null P H 221 221 missense 0.275 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1305612074 17q11.2 17 30834745T> G null L V 222 222 missense 0.015 benign 0.26 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1409697096 17q11.2 17 30834748G> A null A T 223 223 missense 0.01 benign 0.28 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs749211440 17q11.2 17 30834756A> T null E D 225 225 missense 0.235 benign 0.09 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs768662290 17q11.2 17 30834761A> G null N S 227 227 missense 0.012 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs76545689 17q11.2 17 30834764T> G null L W 228 228 missense 0.72 possibly damaging 0.2 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs138260353 17q11.2 17 30834781A> G null K E 234 234 2.0E-4 missense 0.003 benign 0.33 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1213338359 17q11.2 17 30834782A> C null K T 234 234 missense 0.116 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1371668278 17q11.2 17 30834785A> G null D G 235 235 missense 0.03 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1272512460 17q11.2 17 30834784G> C null D H 235 235 missense 0.921 probably damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1205052287 17q11.2 17 30834788C> T null T I 236 236 missense 0.029 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1221672335 17q11.2 17 30834798G> A null M I 239 239 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1234528320 17q11.2 17 30834796A> C null M L 239 239 missense 0.0 benign 0.25 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,TOPMed rs147045641 17q11.2 17 30834800A> G null E G 240 240 missense 0.015 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1477035725 17q11.2 17 30834799G> A null E K 240 240 missense 0.0 benign 0.36 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1448655665 17q11.2 17 30834805A> G null T A 242 242 missense 0.006 benign 0.17 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1190391227 17q11.2 17 30834809C> T null T I 243 243 missense 0.006 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1395504880 17q11.2 17 30834811A> T null S C 244 244 missense 0.43 benign 0.17 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs201064814 17q11.2 17 30834812G> A null S N 244 244 2.0E-4 missense 0.0 benign 0.99 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs201064814 17q11.2 17 30834812G> C null S T 244 244 2.0E-4 missense 0.026 benign 0.46 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1166350350 17q11.2 17 30834815A> G null H R 245 245 missense 0.015 benign 0.3 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs923747996 17q11.2 17 30834817G> A null A T 246 246 missense 0.122 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1013100163 17q11.2 17 30834818C> T null A V 246 246 missense 0.012 benign 0.25 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1330380643 17q11.2 17 30834826A> G null R G 249 249 missense 0.0 benign 0.43 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs17826219 17q11.2 17 30834827G> A null R K 249 249 0.1442 missense 0.026 benign 0.62 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs899243141 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30834835G> A null V I 252 252 missense 0.001 benign 0.4 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs899243141 17q11.2 17 30834835G> C null V L 252 252 missense 0.027 benign 0.14 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs140417753 17q11.2 17 30834843A> C null E D 254 254 missense 0.003 benign 0.2 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs764384488 17q11.2 17 30834845C> A null A E 255 255 missense 0.037 benign 0.29 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP rs375842049 17q11.2 17 30834854T> A null L * 258 258 stop gained 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs779449452 17q11.2 17 30834858T> A null N K 259 259 missense 0.007 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs755751043 17q11.2 17 30834857A> G null N S 259 259 missense 0.197 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs753364681 17q11.2 17 30834861T> G null D E 260 260 missense 0.011 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1275268579 17q11.2 17 30834860A> G null D G 260 260 missense 0.411 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,TOPMed,gnomAD rs150373706 17q11.2 17 30834865A> G null I V 262 262 missense 0.024 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1347926187 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30834868A> G null I V 263 263 missense 0.001 benign 0.39 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs755002049 17q11.2 17 30834872C> T null T I 264 264 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs778985545 17q11.2 17 30834874G> A null V I 265 265 missense 0.038 benign 0.05 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs748044721 17q11.2 17 30834881A> G null Y C 267 267 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1475568477 17q11.2 17 30834889T> C null F L 270 270 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs200129655 17q11.2 17 30834900T> G null S R 273 273 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1411044673 17q11.2 17 30834902A> C null H P 274 274 missense 0.593 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs747220752 17q11.2 17 30834903C> A null H Q 274 274 missense 0.007 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs771164021 17q11.2 17 30834911A> T null N I 277 277 missense 0.024 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs771164021 17q11.2 17 30834911A> G null N S 277 277 missense 0.018 benign 0.15 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs775988695 17q11.2 17 30834927A> G null I M 282 282 missense 0.246 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs770343109 17q11.2 17 30834926T> C null I T 282 282 missense 0.005 benign 0.24 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs375594836 17q11.2 17 30834925A> G null I V 282 282 missense 0.009 benign 0.56 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs369790232 17q11.2 17 30834929C> T null P L 283 283 missense 0.084 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs764604325 17q11.2 17 30834928C> T null P S 283 283 missense 0.009 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1165040322 17q11.2 17 30834932A> G null D G 284 284 missense 0.007 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1375831674 17q11.2 17 30834934T> C null S P 285 285 missense 0.001 benign 0.4 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC rs751899775 17q11.2 17 30834937A> G null T A 286 286 missense 0.001 benign 0.26 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs80170526 17q11.2 17 30834942G> T null M I 287 287 missense 0.0 benign 0.19 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs766021310 17q11.2 17 30834941T> C null M T 287 287 missense 0.01 benign 0.33 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs760289566 17q11.2 17 30834940A> G null M V 287 287 missense 0.0 benign 0.66 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1376142027 17q11.2 17 30834946A> G null I V 289 289 missense 0.003 benign 0.37 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC rs201709899 17q11.2 17 30834950G> C null C S 290 290 2.0E-4 missense 0.541 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1176144986 cosmic curated [Cosmic]: endometrium pubmed:22923510,cosmic_study:434 17q11.2 17 30834956C> T null P L 292 292 missense 0.138 benign 0.04 deleterious 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1206570228 17q11.2 17 30834958T> C null S P 293 293 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs370091920 17q11.2 17 30834964A> G null T A 295 295 missense 0.013 benign 0.17 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1017951222 17q11.2 17 30834967G> A null V I 296 296 missense 0.107 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143006132 17q11.2 17 30834972C> A null D E 297 297 0.01777 missense 0.0 benign 0.81 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,gnomAD rs758365623 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q11.2 17 30834970G> A null D N 297 297 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs186417181 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q11.2 17 30834973G> A null E K 298 298 5.99E-4 missense 0.031 benign 0.11 tolerated 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1463522243 17q11.2 17 30834983A> G null K R 301 301 missense 0.006 benign 0.15 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1157359952 17q11.2 17 30834986G> A null S N 302 302 missense 0.232 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs771126821 17q11.2 17 30834989G> T null G V 303 303 missense 0.66 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1382944981 17q11.2 17 30834992A> G null Y C 304 304 missense 0.0 benign 0.17 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs751786006 17q11.2 17 30834996A> G null I M 305 305 missense 0.007 benign 0.13 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs930021969 17q11.2 17 30834995T> C null I T 305 305 missense 0.0 benign 0.45 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs781465044 17q11.2 17 30834994A> G null I V 305 305 missense 0.0 benign 0.6 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs112921454 17q11.2 17 30835000G> A null E K 307 307 missense 0.156 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs112921454 17q11.2 17 30835000G> C null E Q 307 307 missense 0.261 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1336821781 17q11.2 17 30835009A> C null N H 310 310 missense 0.258 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs776757616 17q11.2 17 30835013C> G null S C 311 311 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs775508313 17q11.2 17 30835015G> A null E K 312 312 missense 0.454 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1005680769 17q11.2 17 30835022C> T null S F 314 314 missense 0.831 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs573652334 17q11.2 17 30835025A> C null Q P 315 315 7.99E-4 missense 0.003 benign 0.15 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs573652334 17q11.2 17 30835025A> G null Q R 315 315 7.99E-4 missense 0.328 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1402180291 17q11.2 17 30835029G> C null Q H 316 316 missense 0.006 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs757440246 17q11.2 17 30835028A> G null Q R 316 316 missense 0.205 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs145990641 17q11.2 17 30835033C> T null R C 318 318 missense 0.332 benign 0.15 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs766001958 17q11.2 17 30835034G> A null R H 318 318 missense 0.0 benign 0.46 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1476452869 17q11.2 17 30835039A> G null K E 320 320 missense 0.696 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs138601238 17q11.2 17 30835040A> G null K R 320 320 missense 0.057 benign 0.65 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1363527938 17q11.2 17 30835051G> C null V L 324 324 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs141618042 17q11.2 17 30835058C> G null A G 326 326 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs141618042 17q11.2 17 30835058C> T null A V 326 326 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377130692 17q11.2 17 30835064T> C null V A 328 328 3.99E-4 missense 0.551 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs764088251 17q11.2 17 30835067A> T null H L 329 329 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs571988701 17q11.2 17 30835070C> A null P H 330 330 2.0E-4 missense 0.628 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs766615480 17q11.2 17 30835072A> G null I V 331 331 missense 0.0 benign 0.52 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs146196968 17q11.2 17 30835076C> T null P L 332 332 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs749330684 17q11.2 17 30835081A> C null K Q 334 334 missense 0.015 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs774905537 17q11.2 17 30835087A> G null T A 336 336 missense 0.0 benign 0.15 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1211199020 17q11.2 17 30835088C> T null T I 336 336 missense 0.0 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs774905537 17q11.2 17 30835087A> T null T S 336 336 missense 0.003 benign 0.82 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs369338962 17q11.2 17 30835090G> A null G R 337 337 missense 0.001 benign 0.95 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs148400890 17q11.2 17 30835097T> C null I T 339 339 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs772520661 17q11.2 17 30835096A> G null I V 339 339 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs759315321 17q11.2 17 30835099C> G null P A 340 340 missense 0.152 benign 0.85 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373509661 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 17q11.2 17 30835103G> A null R Q 341 341 3.99E-4 missense 0.02 benign 0.05 tolerated 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,TOPMed rs111343309 17q11.2 17 30835113G> C null L F 344 344 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1023537417 17q11.2 17 30835114A> G null K E 345 345 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1319618047 17q11.2 17 30835121A> C null K T 347 347 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1453959894 17q11.2 17 30835139A> C null N T 353 353 missense 0.265 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1377291130 17q11.2 17 30835141A> T null S C 354 354 missense 0.921 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1481476096 17q11.2 17 30835142G> C null S T 354 354 missense 0.551 possibly damaging 0.14 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs762513598 17q11.2 17 30835146A> T null L F 355 355 missense 0.088 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1297741808 17q11.2 17 30835150G> T null D Y 357 357 missense 0.77 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs927931035 17q11.2 17 30835154C> T null P L 358 358 missense 0.601 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs370879645 17q11.2 17 30835153C> T null P S 358 358 missense 0.051 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,gnomAD rs757101118 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30835156G> A null E K 359 359 missense 0.541 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs767322703 17q11.2 17 30835171G> C null V L 364 364 missense 0.014 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs188425250 17q11.2 17 30835175A> G null Q R 365 365 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1157301727 17q11.2 17 30835177A> C null K Q 366 366 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1305185526 17q11.2 17 30835181G> T null R I 367 367 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs756364598 17q11.2 17 30835183A> C null K Q 368 368 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1022065853 17q11.2 17 30835199T> C null I T 373 373 missense 0.655 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs139958754 17q11.2 17 30835209A> T null E D 376 376 missense 0.53 possibly damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs78351577 17q11.2 17 30835226T> G null V G 382 382 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs772440385 17q11.2 17 30835229T> G null L W 383 383 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs778325352 17q11.2 17 30835232A> G null E G 384 384 missense 0.862 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs370872412 17q11.2 17 30835238G> A null G E 386 386 missense 0.546 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs563035692 17q11.2 17 30835241G> A null S N 387 387 2.0E-4 missense 0.001 benign 0.21 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1373751012 17q11.2 17 30835242T> A null S R 387 387 missense 0.168 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1447947010 17q11.2 17 30835240A> C null S R 387 387 missense 0.168 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1463421608 17q11.2 17 30835243T> C null S P 388 388 missense 0.003 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1291734814 17q11.2 17 30835250C> T null A V 390 390 missense 0.007 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs777698126 17q11.2 17 30835252G> A null V M 391 391 missense 0.021 benign 0.09 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs762445169 17q11.2 17 30835259C> T null P L 393 393 missense 0.857 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1327735766 17q11.2 17 30835261A> C null K Q 394 394 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs768242074 17q11.2 17 30835265G> C null C S 395 395 missense 0.158 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs768242074 17q11.2 17 30835265G> A null C Y 395 395 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs774562306 17q11.2 17 30835267A> G null T A 396 396 missense 0.444 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1039880026 17q11.2 17 30835268C> T null T I 396 396 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs761858157 17q11.2 17 30835297G> A null A T 406 406 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs750280559 17q11.2 17 30835309C> G null P A 410 410 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs760447210 17q11.2 17 30835320T> A null D E 413 413 missense 0.023 benign 0.25 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs141483440 17q11.2 17 30835322C> T null A V 414 414 2.0E-4 missense 0.0 benign 0.86 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,gnomAD rs149829392 17q11.2 17 30835331A> G null N S 417 417 missense 0.038 benign 0.91 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs779103209 17q11.2 17 30835334G> A null G E 418 418 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs755109692 17q11.2 17 30835333G> A null G R 418 418 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs752691843 17q11.2 17 30835336G> C null V L 419 419 missense 0.018 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1430389384 17q11.2 17 30835344G> T null K N 421 421 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs759042319 17q11.2 17 30835345T> G null S A 422 422 missense 0.018 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs202223610 17q11.2 17 30835352A> G null D G 424 424 missense 0.001 benign 0.66 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,TOPMed,gnomAD rs147926164 17q11.2 17 30835351G> A null D N 424 424 missense 0.212 benign 0.14 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs202223610 17q11.2 17 30835352A> T null D V 424 424 missense 0.462 possibly damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs141677716 17q11.2 17 30835358A> G null Q R 426 426 missense 0.058 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs890084111 17q11.2 17 30835360A> G null K E 427 427 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1567676686 17q11.2 17 30835361A> G null K R 427 427 missense 0.994 probably damaging 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs756779040 17q11.2 17 30835364A> G null D G 428 428 missense 0.202 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1289101045 17q11.2 17 30835367T> C null L P 429 429 missense 0.0 benign 0.37 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs999234475 17q11.2 17 30835366C> G null L V 429 429 missense 0.001 benign 0.69 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1442156362 17q11.2 17 30835372G> C null E Q 431 431 missense 0.878 possibly damaging 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1307842558 17q11.2 17 30835386T> A null Y * 435 435 stop gained 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs771428142 17q11.2 17 30835384T> C null Y H 435 435 missense 0.0 benign 0.3 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1396689738 17q11.2 17 30835391T> C null V A 437 437 missense 0.0 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs778334462 17q11.2 17 30835390G> A null V I 437 437 missense 0.015 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs778334462 17q11.2 17 30835390G> T null V L 437 437 missense 0.005 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1234477025 17q11.2 17 30835394G> A null G E 438 438 missense 0.011 benign 0.22 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs759686535 17q11.2 17 30835393G> A null G R 438 438 missense 0.042 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs748989862 17q11.2 17 30835400A> G null D G 440 440 missense 0.321 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1278821699 17q11.2 17 30835399G> A null D N 440 440 missense 0.397 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs748989862 17q11.2 17 30835400A> T null D V 440 440 missense 0.601 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1194182658 17q11.2 17 30835403A> G null D G 441 441 missense 0.039 benign 0.32 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs768171111 17q11.2 17 30835421T> A null M K 447 447 missense 0.023 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs768171111 17q11.2 17 30835421T> C null M T 447 447 missense 0.0 benign 0.49 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1487007275 17q11.2 17 30835432G> A null G S 451 451 missense 0.0 benign 0.44 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,TOPMed,gnomAD rs112795423 17q11.2 17 30835441A> G null M V 454 454 2.0E-4 missense 0.0 benign 0.43 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1475470055 17q11.2 17 30835450A> T null K * 457 457 stop gained 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1190004329 17q11.2 17 30835453A> G null N D 458 458 missense 0.0 benign 0.24 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1409413895 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30835454A> T null N I 458 458 missense 0.118 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1409413895 17q11.2 17 30835454A> G null N S 458 458 missense 0.026 benign 0.45 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1190004329 17q11.2 17 30835453A> T null N Y 458 458 missense 0.001 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs577468040 17q11.2 17 30835457G> A null G D 459 459 missense 0.001 benign 0.23 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs973671372 17q11.2 17 30835467G> C null Q H 462 462 missense 0.001 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs893584554 17q11.2 17 30835474A> T null T S 465 465 missense 0.057 benign 0.19 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs772051886 17q11.2 17 30835480A> G null K E 467 467 missense 0.214 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs760537035 17q11.2 17 30835486A> G null S G 469 469 missense 0.0 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs767878394 17q11.2 17 30835487G> A null S N 469 469 missense 0.036 benign 0.14 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs769433778 17q11.2 17 30835498G> A null E K 473 473 missense 0.0 benign 0.38 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs753555598 17q11.2 17 30835511A> G null K R 477 477 missense 0.036 benign 0.54 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs920737223 17q11.2 17 30835519A> C null K Q 480 480 missense 0.067 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1279632953 17q11.2 17 30835523A> G null K R 481 481 missense 0.025 benign 0.23 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1486047155 17q11.2 17 30835525A> G null N D 482 482 missense 0.0 benign 0.61 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1212850112 17q11.2 17 30835527T> G null N K 482 482 missense 0.023 benign 0.5 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145444117 17q11.2 17 30835528A> G null K E 483 483 2.0E-4 missense 0.014 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs765377300 17q11.2 17 30835529A> G null K R 483 483 missense 0.079 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,gnomAD rs752880274 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30835535C> T null T I 485 485 missense 0.0 benign 0.32 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,gnomAD rs370328337 17q11.2 17 30835544C> T null T I 488 488 missense 0.013 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs745403461 17q11.2 17 30835547G> C null G A 489 489 missense 0.057 benign 0.32 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs752145415 17q11.2 17 30835546G> A null G R 489 489 missense 0.005 benign 0.29 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1436040867 17q11.2 17 30835550C> T null A V 490 490 missense 0.0 benign 0.25 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1353249766 17q11.2 17 30835558G> T null G C 493 493 missense 0.417 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1180292287 17q11.2 17 30835561A> G null K E 494 494 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1442164278 17q11.2 17 30835559_30835560insATTTTTTTAGAATTA T null K F 494 494 stop gained 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1299056054 17q11.2 17 30835573G> A null G R 498 498 missense 0.165 benign 0.37 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs781657237 17q11.2 17 30835579A> G null T A 500 500 missense 0.001 benign 0.42 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147677770 17q11.2 17 30835580C> T null T I 500 500 2.0E-4 missense 0.001 benign 0.25 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs781657237 17q11.2 17 30835579A> T null T S 500 500 missense 0.005 benign 0.47 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1348950758 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 17q11.2 17 30835587G> T null K N 502 502 missense 0.145 benign 0.05 deleterious 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1236569764 17q11.2 17 30835589A> C null K T 503 503 missense 0.109 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs747738593 17q11.2 17 30835595C> G null T R 505 505 missense 0.604 possibly damaging 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,NCI-TCGA,gnomAD rs533226106 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30835597A> G null T A 506 506 5.99E-4 missense 0.0 benign 0.19 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs890537519 17q11.2 17 30835598C> G null T S 506 506 missense 0.001 benign 0.29 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1171807464 17q11.2 17 30835600T> A null F I 507 507 missense 0.038 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1466975894 17q11.2 17 30835604T> C null F S 508 508 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs775868103 17q11.2 17 30835610A> C null K T 510 510 missense 0.074 benign 0.09 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs747000850 17q11.2 17 30835613A> G null E G 511 511 missense 0.0 benign 0.28 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs772662384 17q11.2 17 30835612G> A null E K 511 511 missense 0.023 benign 0.32 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1455348343 17q11.2 17 30835615A> G null K E 512 512 missense 0.001 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1418199267 17q11.2 17 30835622A> G null Y C 514 514 missense 0.003 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs776559811 17q11.2 17 30835628A> G null N S 516 516 missense 0.077 benign 0.09 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1398740167 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q11.2 17 30835631G> A null R K 517 517 missense 0.325 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs759238765 17q11.2 17 30835635G> C null M I 518 518 missense 0.129 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1039433190 17q11.2 17 30835633A> T null M L 518 518 missense 0.031 benign 0.38 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs982783377 17q11.2 17 30835637G> A null S N 519 519 missense 0.322 benign 0.14 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs765026133 17q11.2 17 30835646A> G null Q R 522 522 missense 0.005 benign 0.19 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs763229221 17q11.2 17 30835654A> G null T A 525 525 missense 0.042 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1443422117 17q11.2 17 30835666A> G null K E 529 529 missense 0.541 possibly damaging 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1268443507 17q11.2 17 30835671C> G null S R 530 530 missense 0.003 benign 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs149140753 17q11.2 17 30835676C> A null T N 532 532 missense 0.055 benign 0.24 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs149140753 17q11.2 17 30835676C> G null T S 532 532 missense 0.003 benign 0.29 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs555958574 17q11.2 17 30835679T> C null L S 533 533 2.0E-4 missense 0.005 benign 0.26 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs750854056 17q11.2 17 30835691A> G null E G 537 537 missense 0.006 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1212819372 17q11.2 17 30835699G> T null V F 540 540 missense 0.168 benign 0.7 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1212819372 17q11.2 17 30835699G> A null V I 540 540 missense 0.001 benign 0.57 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1253441164 17q11.2 17 30835703A> G null Y C 541 541 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs747312799 17q11.2 17 30835708G> C null D H 543 543 missense 0.011 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs747312799 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30835708G> A null D N 543 543 missense 0.086 benign 0.21 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs747826667 17q11.2 17 30835712T> A null I K 544 544 missense 0.01 benign 0.96 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs747826667 17q11.2 17 30835712T> C null I T 544 544 missense 0.0 benign 0.98 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1407627705 17q11.2 17 30835715C> T null A V 545 545 missense 0.038 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs777307382 17q11.2 17 30835738T> C null S P 553 553 missense 0.001 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1460382442 17q11.2 17 30835742C> G null S C 554 554 missense 0.514 possibly damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1312990495 17q11.2 17 30835745T> A null L Q 555 555 missense 0.005 benign 0.43 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs975489505 17q11.2 17 30835751A> G null N S 557 557 missense 0.0 benign 0.54 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs960727202 17q11.2 17 30835753A> G null N D 558 558 missense 0.006 benign 0.61 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1395700257 17q11.2 17 30835757A> G null N S 559 559 missense 0.003 benign 0.23 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs746521098 17q11.2 17 30835759A> G null K E 560 560 missense 0.787 possibly damaging 0.24 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs746521098 17q11.2 17 30835759A> C null K Q 560 560 missense 0.922 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,gnomAD rs745752074 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30835766C> T null S L 562 562 missense 0.761 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs769509747 17q11.2 17 30835774A> C null T P 565 565 missense 0.276 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1256702967 17q11.2 17 30835779C> G null S R 566 566 missense 0.073 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs775378966 17q11.2 17 30835780A> T null I L 567 567 missense 0.0 benign 0.9 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1225249420 17q11.2 17 30835783C> A null P T 568 568 missense 0.702 possibly damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs763313542 17q11.2 17 30835794T> G null D E 571 571 missense 0.15 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1232632109 17q11.2 17 30835792G> T null D Y 571 571 missense 0.656 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs990611267 17q11.2 17 30835795A> G null I V 572 572 missense 0.0 benign 0.8 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs764379078 17q11.2 17 30835802T> G null L R 574 574 missense 0.133 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143213149 17q11.2 17 30835808A> C null Q P 576 576 9.98E-4 missense 0.0 benign 0.17 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs761967355 17q11.2 17 30835811C> A null S Y 577 577 missense 0.325 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1474485164 17q11.2 17 30835820A> C null E A 580 580 missense 0.031 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1471737885 17q11.2 17 30835819G> A null E K 580 580 missense 0.475 possibly damaging 0.27 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs767572961 17q11.2 17 30835829C> G null A G 583 583 missense 0.006 benign 0.09 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs768972096 17q11.2 17 30835832G> C null S T 584 584 missense 0.272 benign 0.13 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs750895751 17q11.2 17 30835846T> C null S P 589 589 missense 0.692 possibly damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs148065409 17q11.2 17 30835850C> T null T M 590 590 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs148065409 17q11.2 17 30835850C> G null T R 590 590 missense 0.98 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs777394652 17q11.2 17 30835853C> T null P L 591 591 missense 0.655 possibly damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1401548019 17q11.2 17 30835852C> T null P S 591 591 missense 0.722 possibly damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1373728907 17q11.2 17 30835855A> G null K E 592 592 missense 0.033 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs920853779 17q11.2 17 30835856A> G null K R 592 592 missense 0.265 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs751154775 17q11.2 17 30835859C> T null S L 593 593 missense 0.422 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs369100241 17q11.2 17 30835862C> T null T I 594 594 missense 0.03 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs377421631 17q11.2 17 30835861A> C null T P 594 594 missense 0.598 possibly damaging 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs377421631 17q11.2 17 30835861A> T null T S 594 594 missense 0.012 benign 0.26 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs369100241 17q11.2 17 30835862C> G null T S 594 594 missense 0.012 benign 0.26 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs769747259 17q11.2 17 30835869A> T null R S 596 596 missense 0.186 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1010636199 17q11.2 17 30835868G> C null R T 596 596 missense 0.244 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,gnomAD rs373615036 17q11.2 17 30835883G> A null S N 601 601 missense 0.001 benign 0.25 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs912092716 17q11.2 17 30835888A> G null T A 603 603 missense 0.024 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs749090253 17q11.2 17 30835897A> G null T A 606 606 missense 0.0 benign 0.8 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs769058370 17q11.2 17 30835898C> A null T K 606 606 missense 0.0 benign 0.69 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs774724480 17q11.2 17 30835904C> T null T I 608 608 missense 0.0 benign 0.38 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1180072312 17q11.2 17 30835910G> A null R K 610 610 missense 0.039 benign 0.2 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1363622961 17q11.2 17 30835912G> C null G R 611 611 missense 0.235 benign 0.09 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1346831553 17q11.2 17 30835922C> T null S F 614 614 missense 0.028 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs111725019 17q11.2 17 30835925A> G null D G 615 615 missense 0.0 benign 0.05 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1470604895 17q11.2 17 30835924G> C null D H 615 615 missense 0.001 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs772072992 17q11.2 17 30835927G> A null D N 616 616 missense 0.413 benign 0.14 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1165916012 17q11.2 17 30835935A> C null Q H 618 618 missense 0.436 benign 0.21 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs773291328 17q11.2 17 30835939A> G null N D 620 620 missense 0.0 benign 0.92 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs773291328 17q11.2 17 30835939A> C null N H 620 620 missense 0.166 benign 0.15 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs201040834 17q11.2 17 30835940A> G null N S 620 620 missense 0.0 benign 0.91 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs773291328 17q11.2 17 30835939A> T null N Y 620 620 missense 0.074 benign 0.13 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1389643881 17q11.2 17 30835945C> T null Q * 622 622 stop gained 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144812489 17q11.2 17 30835954G> C null A P 625 625 2.0E-4 missense 0.447 possibly damaging 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs759911776 17q11.2 17 30835958C> A null S Y 626 626 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs765518624 17q11.2 17 30835960A> T null T S 627 627 missense 0.493 possibly damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs751244687 17q11.2 17 30835964A> G null Q R 628 628 missense 0.0 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1427662852 17q11.2 17 30835966A> G null K E 629 629 missense 0.086 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1004100672 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver cosmic_study:322,cosmic_study:376 17q11.2 17 30835969G> A null A T 630 630 missense 0.031 benign 0.1 tolerated 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs780618810 17q11.2 17 30835982C> T null S L 634 634 missense 0.001 benign 0.38 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs962690987 17q11.2 17 30835981T> C null S P 634 634 missense 0.0 benign 0.23 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs962690987 17q11.2 17 30835981T> A null S T 634 634 missense 0.042 benign 0.2 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs780618810 17q11.2 17 30835982C> G null S W 634 634 missense 0.517 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1251357946 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30835984G> C null E Q 635 635 missense 0.262 benign 0.24 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs201804456 17q11.2 17 30835994G> A null S N 638 638 2.0E-4 missense 0.0 benign 0.67 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs768572188 17q11.2 17 30836002A> G null T A 641 641 missense 0.057 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed rs778807570 17q11.2 17 30836006C> T null A V 642 642 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1397209737 17q11.2 17 30836024C> T null P L 648 648 missense 0.747 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs921395535 17q11.2 17 30836033C> T null S L 651 651 missense 0.549 possibly damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP rs377233441 17q11.2 17 30836036A> G null E G 652 652 missense 0.023 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1369751121 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30836039G> A null S N 653 653 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC rs772308722 17q11.2 17 30836038A> C null S R 653 653 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs955728688 17q11.2 17 30836044A> G null I V 655 655 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs753084977 17q11.2 17 30837212A> T null K N 658 658 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1467160326 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30837211A> C null K T 658 658 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1267567286 17q11.2 17 30837216A> G null T A 660 660 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs755663222 17q11.2 17 30837229C> T null T I 664 664 missense 0.003 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs765916888 17q11.2 17 30837236A> T null K N 666 666 missense 0.145 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC rs754911141 17q11.2 17 30837255A> G null N D 673 673 missense 0.014 benign 0.49 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1297437907 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30837258A> G null K E 674 674 missense 0.971 probably damaging 0.13 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs565708502 17q11.2 17 30837265C> G null S C 676 676 2.0E-4 missense 0.003 benign 0.14 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1001043505 17q11.2 17 30837273T> C null S P 679 679 missense 0.878 possibly damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs747973671 17q11.2 17 30837277A> C null E A 680 680 missense 0.673 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1305456283 17q11.2 17 30837282A> G null T A 682 682 missense 0.0 benign 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1222857028 17q11.2 17 30837286A> G null D G 683 683 missense 0.003 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs758609238 17q11.2 17 30837289G> A null G E 684 684 missense 0.003 benign 0.37 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1204602882 17q11.2 17 30837292G> A null G D 685 685 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs778073305 17q11.2 17 30837297A> G null T A 687 687 missense 0.022 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs747134496 17q11.2 17 30837300T> A null S T 688 688 missense 0.007 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs891813700 17q11.2 17 30837303C> T null Q * 689 689 stop gained 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs771034199 17q11.2 17 30837313A> G null K R 692 692 missense 0.655 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs752457480 17q11.2 17 30840624A> G null N S 695 695 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs755034836 17q11.2 17 30840632A> G null K E 698 698 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs755034836 17q11.2 17 30840632A> C null K Q 698 698 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3764421 17q11.2 17 30840635A> C null N H 699 699 0.1442 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs200690961 17q11.2 17 30840638A> C null I L 700 700 2.0E-4 missense 0.003 benign 0.09 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs758217443 17q11.2 17 30840640A> G null I M 700 700 missense 0.246 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs200690961 17q11.2 17 30840638A> G null I V 700 700 2.0E-4 missense 0.003 benign 0.29 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs768962229 17q11.2 17 30840644A> C null K Q 702 702 missense 0.432 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs777395193 17q11.2 17 30840647G> A null A T 703 703 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1007012177 17q11.2 17 30840648C> T null A V 703 703 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs757452567 17q11.2 17 30840662G> C null E Q 708 708 missense 0.609 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1304905234 17q11.2 17 30840669C> G null A G 710 710 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1223361703 17q11.2 17 30840689A> T null R W 717 717 missense 0.849 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,gnomAD rs770341123 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30840714C> T null A V 725 725 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs749686751 17q11.2 17 30840717T> A null I K 726 726 missense 0.023 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1217901494 17q11.2 17 30840720C> A null P H 727 727 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,TOPMed,gnomAD rs375372869 17q11.2 17 30840719C> T null P S 727 727 missense 0.996 probably damaging 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs774529814 17q11.2 17 30840726G> A null R K 729 729 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,gnomAD rs778157984 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q11.2 17 30840728C> T null R C 730 730 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs766096038 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30840729G> A null R H 730 730 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs776340456 17q11.2 17 30840732C> G null S C 731 731 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs776340456 17q11.2 17 30840732C> T null S F 731 731 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,gnomAD rs764586127 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30840735C> G null S C 732 732 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs759132272 17q11.2 17 30840734T> C null S P 732 732 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs752710900 17q11.2 17 30840738G> A null R K 733 733 missense 0.847 possibly damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs762755239 17q11.2 17 30840752C> A null P T 738 738 missense 0.0 benign 0.44 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1441921633 17q11.2 17 30840756A> C null E A 739 739 missense 0.006 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs764002307 17q11.2 17 30840759G> C null R T 740 740 missense 0.205 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs781375998 17q11.2 17 30840779G> A null E K 747 747 missense 0.055 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs781375998 17q11.2 17 30840779G> C null E Q 747 747 missense 0.522 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs146216723 17q11.2 17 30843916T> C null S P 749 749 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs767228850 17q11.2 17 30843928A> G null I V 753 753 missense 0.203 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1567680386 17q11.2 17 30843931G> T null D Y 754 754 missense 0.549 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs750669998 17q11.2 17 30843938G> T null S I 756 756 missense 0.548 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs750669998 17q11.2 17 30843938G> A null S N 756 756 missense 0.003 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1208083185 17q11.2 17 30843940C> T null P S 757 757 missense 0.0 benign 0.52 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs780230150 17q11.2 17 30843943A> G null T A 758 758 missense 0.057 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs137960256 17q11.2 17 30843944C> T null T I 758 758 missense 0.36 benign 0.05 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs780230150 17q11.2 17 30843943A> C null T P 758 758 missense 0.005 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs111737114 17q11.2 17 30843946G> T null A S 759 759 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1320836957 17q11.2 17 30843951A> C null L F 760 760 missense 0.075 benign 0.63 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs545881440 17q11.2 17 30843952A> C null K Q 761 761 2.0E-4 missense 0.006 benign 0.34 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1477754116 17q11.2 17 30843953A> G null K R 761 761 missense 0.001 benign 0.24 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs772597697 17q11.2 17 30843966A> T null K N 765 765 missense 0.021 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1163098553 17q11.2 17 30843982C> G null Q E 771 771 missense 0.053 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs778235062 17q11.2 17 30843985T> A null C S 772 772 missense 0.003 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs745570272 17q11.2 17 30843997G> A null V M 776 776 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1262903513 17q11.2 17 30844000C> G null L V 777 777 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs149463497 17q11.2 17 30844008A> T null K N 779 779 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs775136261 17q11.2 17 30844009A> G null K E 780 780 missense 0.185 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs891246730 17q11.2 17 30844011A> T null K N 780 780 missense 0.007 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1473978706 17q11.2 17 30844013T> C null L P 781 781 missense 0.001 benign 0.28 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs564565220 17q11.2 17 30844027A> G null K E 786 786 0.001198 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1395857967 17q11.2 17 30844029A> T null K N 786 786 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1435092394 17q11.2 17 30844028A> G null K R 786 786 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs376382141 17q11.2 17 30844030A> G null N D 787 787 missense 0.003 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs774273801 17q11.2 17 30844034T> C null V A 788 788 missense 0.053 benign 0.14 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs761695921 17q11.2 17 30844036C> T null P S 789 789 missense 0.021 benign 0.23 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs776751186 17q11.2 17 30844841T> C null M T 792 792 missense 0.02 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1173096845 17q11.2 17 30844843A> C null K Q 793 793 missense 0.889 possibly damaging 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1404353677 17q11.2 17 30844846G> T null V F 794 794 missense 0.001 benign 0.09 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1404353677 17q11.2 17 30844846G> A null V I 794 794 missense 0.001 benign 0.25 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs765457639 17q11.2 17 30844849G> A null A T 795 795 missense 0.127 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs868313694 17q11.2 17 30844852C> T null P S 796 796 missense 0.787 possibly damaging 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1377129967 17q11.2 17 30844857A> C null L F 797 797 missense 0.759 possibly damaging 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1448559471 17q11.2 17 30844862T> A null L H 799 799 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1448559471 17q11.2 17 30844862T> C null L P 799 799 missense 0.957 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs373642430 17q11.2 17 30844871A> T null K I 802 802 missense 0.401 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs759044710 17q11.2 17 30844873G> A null A T 803 803 missense 0.003 benign 0.31 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1166807472 17q11.2 17 30844874C> T null A V 803 803 missense 0.003 benign 0.13 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs764687471 17q11.2 17 30844877A> G null Q R 804 804 missense 0.003 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs752050340 17q11.2 17 30844882G> A null A T 806 806 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs757564464 17q11.2 17 30844889A> C null D A 808 808 missense 0.013 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1257860857 17q11.2 17 30844894G> C null V L 810 810 missense 0.066 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs755092163 17q11.2 17 30844897C> T null P S 811 811 missense 0.003 benign 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs748910945 cosmic curated [Cosmic]: pancreas cosmic_study:382 17q11.2 17 30844900A> G null S G 812 812 missense 0.0 benign 0.57 tolerated 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs762327955 17q11.2 17 30855144C> G null Q E 818 818 missense 0.637 possibly damaging 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs767817107 17q11.2 17 30855151C> T null T I 820 820 missense 0.0 benign 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1200991468 17q11.2 17 30855154C> G null S C 821 821 missense 0.012 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs750768357 17q11.2 17 30855163C> A null S Y 824 824 missense 0.75 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs923501389 17q11.2 17 30855171T> G null C G 827 827 missense 0.063 benign 0.15 tolerated - low confidence 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1262918183 17q11.2 17 30855175A> T null D V 828 828 missense 0.499 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs977424434 17q11.2 17 30855181A> G null Q R 830 830 missense 0.006 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs554208506 17q11.2 17 30855183T> C null C R 831 831 2.0E-4 missense 0.019 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs752287873 17q11.2 17 30855184G> A null C Y 831 831 missense 0.003 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs773347061 17q11.2 17 30855186A> G null K E 832 832 missense 0.075 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs201684026 17q11.2 17 30855190C> G null A G 833 833 missense 0.314 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs201684026 17q11.2 17 30855190C> T null A V 833 833 missense 0.517 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs143854673 17q11.2 17 30855195C> T null R C 835 835 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs143854673 17q11.2 17 30855195C> G null R G 835 835 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs780919433 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30855196G> A null R H 835 835 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs780919433 17q11.2 17 30855196G> T null R L 835 835 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs902893200 17q11.2 17 30855208T> C null M T 839 839 missense 0.068 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs770875593 17q11.2 17 30855218G> T null L F 842 842 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs745649976 17q11.2 17 30855223A> G null D G 844 844 missense 0.398 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs769657815 17q11.2 17 30855231A> C null K Q 847 847 missense 0.478 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs148806661 17q11.2 17 30855235G> C null R P 848 848 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs148806661 17q11.2 17 30855235G> A null R Q 848 848 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1294728867 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30855234C> T null R W 848 848 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs764692790 17q11.2 17 30855237C> T null Q * 849 849 stop gained 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1348013483 17q11.2 17 30855242T> G null I M 850 850 missense 0.159 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1398622756 17q11.2 17 30855244C> G null A G 851 851 missense 0.117 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs768638862 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q11.2 17 30855259C> T null A V 856 856 missense 0.006 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs572609574 17q11.2 17 30855264G> C null D H 858 858 2.0E-4 missense 0.417 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,TOPMed rs368160157 17q11.2 17 30855273A> G null N D 861 861 missense 0.047 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1054639600 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 17q11.2 17 30855274A> G null N S 861 861 missense 0.007 benign 1.0 tolerated 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1267229138 17q11.2 17 30855279G> A null V M 863 863 missense 0.156 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,TOPMed,gnomAD rs371851453 17q11.2 17 30855283G> A null S N 864 864 2.0E-4 missense 0.203 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs750811604 17q11.2 17 30855288A> T null S C 866 866 missense 0.0 benign 0.46 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1263782682 17q11.2 17 30855292T> G null F C 867 867 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,gnomAD rs140072712 17q11.2 17 30855303G> A null V I 871 871 2.0E-4 missense 0.02 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,gnomAD rs140072712 17q11.2 17 30855303G> C null V L 871 871 2.0E-4 missense 0.097 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1361775585 17q11.2 17 30855307A> G null H R 872 872 missense 0.255 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1166482497 17q11.2 17 30855306C> T null H Y 872 872 missense 0.575 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs751079635 17q11.2 17 30855309G> A null V M 873 873 missense 0.596 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs973659668 17q11.2 17 30856955G> C null G A 879 879 missense 0.0 benign 0.69 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs973659668 17q11.2 17 30856955G> A null G E 879 879 missense 0.001 benign 0.34 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs763792851 17q11.2 17 30856961G> C null C S 881 881 missense 0.0 benign 0.4 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1368973061 17q11.2 17 30856978C> A null P T 887 887 missense 0.058 benign 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs751119043 17q11.2 17 30856982C> T null P L 888 888 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1309994591 17q11.2 17 30856988G> T null C F 890 890 missense 0.16 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs756799512 17q11.2 17 30856993C> T null L F 892 892 missense 0.046 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1277818448 17q11.2 17 30856996T> G null L V 893 893 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs921830508 17q11.2 17 30857005T> A null F I 896 896 missense 0.014 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1028729662 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30857015T> G null L R 899 899 missense 0.312 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs766901082 17q11.2 17 30857020A> G null T A 901 901 missense 0.067 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1463773312 17q11.2 17 30857023A> G null K E 902 902 missense 0.0 benign 0.98 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs756096923 17q11.2 17 30857031A> G null I M 904 904 missense 0.001 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1189371829 17q11.2 17 30857038T> G null S A 907 907 missense 0.024 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs749087991 17q11.2 17 30857046T> G null C W 909 909 missense 0.24 benign 0.17 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs376503585 17q11.2 17 30857048G> C null G A 910 910 missense 0.0 benign 0.46 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs376503585 17q11.2 17 30857048G> A null G D 910 910 missense 0.019 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs376503585 17q11.2 17 30857048G> T null G V 910 910 missense 0.0 benign 0.8 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs772222964 17q11.2 17 30857056C> T null L F 913 913 missense 0.003 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1425039786 17q11.2 17 30857057T> G null L R 913 913 missense 0.424 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs773255896 17q11.2 17 30857063A> T null E V 915 915 missense 0.778 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs747555125 17q11.2 17 30857071A> G null T A 918 918 missense 0.116 benign 0.05 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,TOPMed,gnomAD rs369789600 17q11.2 17 30857072C> T null T I 918 918 missense 0.702 possibly damaging 0.05 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs532499017 17q11.2 17 30857074T> G null L V 919 919 2.0E-4 missense 0.013 benign 0.63 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs777041561 17q11.2 17 30857080T> A null S T 921 921 missense 0.104 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs765456043 17q11.2 17 30857095G> T null G C 926 926 missense 0.003 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs765456043 17q11.2 17 30857095G> A null G S 926 926 missense 0.0 benign 0.42 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs774086923 17q11.2 17 30857096G> T null G V 926 926 missense 0.006 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs771843163 17q11.2 17 30858168G> A null R K 934 934 missense 0.006 benign 0.24 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs940285600 17q11.2 17 30858173A> G null R G 936 936 missense 0.621 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1227395944 17q11.2 17 30858178G> T null K N 937 937 missense 0.006 benign 0.21 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1039061462 17q11.2 17 30858188G> A null E K 941 941 missense 0.003 benign 0.32 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs772912875 17q11.2 17 30858200A> C null N H 945 945 missense 0.038 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1322998233 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q11.2 17 30858204T> G null L R 946 946 missense 0.033 benign 0.34 tolerated 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs760274346 17q11.2 17 30858207T> C null L S 947 947 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1261631149 17q11.2 17 30858212G> A null E K 949 949 missense 0.386 benign 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1488275129 17q11.2 17 30858217A> T null E D 950 950 missense 0.612 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs765918929 17q11.2 17 30858218A> C null I L 951 951 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs753844244 17q11.2 17 30858222G> T null R M 952 952 missense 0.246 benign 0.31 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1471901128 17q11.2 17 30858230A> G null N D 955 955 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs759341183 17q11.2 17 30858249A> G null K R 961 961 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1178077603 17q11.2 17 30858253A> T null K N 962 962 missense 0.003 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1156972635 17q11.2 17 30858260C> T null P S 965 965 missense 0.0 benign 0.53 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs151063914 17q11.2 17 30858266C> T null L F 967 967 missense 0.006 benign 0.74 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs151063914 17q11.2 17 30858266C> G null L V 967 967 missense 0.399 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs377548308 17q11.2 17 30858278C> A null Q K 971 971 missense 0.0 benign 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1232225763 17q11.2 17 30858279A> G null Q R 971 971 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs377366933 17q11.2 17 30858289C> G null H Q 974 974 missense 0.439 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1284413128 17q11.2 17 30858288A> G null H R 974 974 missense 0.006 benign 0.46 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs757362942 17q11.2 17 30858287C> T null H Y 974 974 missense 0.003 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs925161686 17q11.2 17 30858300C> A null S Y 978 978 missense 0.086 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs770165831 17q11.2 17 30858305G> A null E K 980 980 missense 0.093 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs780531799 17q11.2 17 30858306A> T null E V 980 980 missense 0.283 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1218006106 17q11.2 17 30858308T> C null C R 981 981 missense 0.062 benign 0.17 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1249686721 17q11.2 17 30858309G> A null C Y 981 981 missense 0.0 benign 0.56 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1286705545 17q11.2 17 30858312A> T null H L 982 982 missense 0.0 benign 0.21 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1286705545 17q11.2 17 30858312A> G null H R 982 982 missense 0.0 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs769083129 17q11.2 17 30858317A> G null K E 984 984 missense 0.01 benign 0.09 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs539121396 17q11.2 17 30860433A> T null E V 986 986 missense 0.031 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs749736001 17q11.2 17 30860436T> C null L P 987 987 missense 0.0 benign 0.2 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1433462687 17q11.2 17 30860438G> A null E K 988 988 missense 0.0 benign 0.3 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117609129 17q11.2 17 30860445A> T null D V 990 990 3.99E-4 missense 0.022 benign 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1172901086 17q11.2 17 30860447G> C null V L 991 991 missense 0.158 benign 0.33 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs779371548 17q11.2 17 30860456A> G null K E 994 994 missense 0.104 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs746707833 17q11.2 17 30860460A> G null E G 995 995 missense 0.133 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,gnomAD rs149118788 17q11.2 17 30860463C> T null T I 996 996 missense 0.923 probably damaging 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1330263735 17q11.2 17 30860462A> C null T P 996 996 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,gnomAD rs149118788 17q11.2 17 30860463C> G null T S 996 996 missense 0.076 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs867102688 17q11.2 17 30860474C> A null L I 1000 1000 missense 0.026 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs776263183 17q11.2 17 30860475T> C null L P 1000 1000 missense 0.054 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs775323434 17q11.2 17 30860478T> C null V A 1001 1001 missense 0.005 benign 0.08 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs566790418 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30860477G> A null V I 1001 1001 missense 0.006 benign 0.66 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs566790418 17q11.2 17 30860477G> T null V L 1001 1001 missense 0.001 benign 0.36 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1226906422 17q11.2 17 30860489A> T null N Y 1005 1005 missense 0.202 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1304221687 17q11.2 17 30860499C> T null S L 1008 1008 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs952610947 17q11.2 17 30860501A> G null K E 1009 1009 missense 0.952 probably damaging 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs774097995 17q11.2 17 30860504A> G null R G 1010 1010 missense 0.478 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1347778035 17q11.2 17 30860505G> A null R K 1010 1010 missense 0.028 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1458417438 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30860509G> T null K N 1011 1011 missense 0.202 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1217278936 17q11.2 17 30860513C> T null P S 1013 1013 missense 0.015 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1450904609 17q11.2 17 30860516A> G null N D 1014 1014 missense 0.037 benign 0.22 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs750597301 17q11.2 17 30860523A> G null Y C 1016 1016 missense 0.0 benign 0.18 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs550030980 17q11.2 17 30860528A> G null K E 1018 1018 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1411634023 17q11.2 17 30860532A> G null N S 1019 1019 missense 0.0 benign 0.9 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs766440593 17q11.2 17 30860531A> T null N Y 1019 1019 missense 0.243 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs755518278 17q11.2 17 30860541A> T null K M 1022 1022 missense 0.36 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs754418435 17q11.2 17 30860540A> C null K Q 1022 1022 missense 0.039 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs755518278 17q11.2 17 30860541A> G null K R 1022 1022 missense 0.0 benign 0.16 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1368140817 17q11.2 17 30860550G> A null R K 1025 1025 missense 0.0 benign 0.79 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed rs758733424 17q11.2 17 30860558G> A null E K 1028 1028 missense 0.0 benign 0.21 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35910070 17q11.2 17 30860564C> T null L F 1030 1030 0.007788 missense 0.578 possibly damaging 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1041463783 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 17q11.2 17 30860574G> T null R I 1033 1033 missense 0.0 benign 0.17 tolerated 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs763104038 17q11.2 17 30860576A> G null N D 1034 1034 missense 0.107 benign 0.12 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs922684179 17q11.2 17 30860580A> G null N S 1035 1035 missense 0.001 benign 0.73 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1029386816 17q11.2 17 30860585T> C null S P 1037 1037 missense 0.0 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1029386816 17q11.2 17 30860585T> A null S T 1037 1037 missense 0.0 benign 0.3 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs769213236 17q11.2 17 30860595A> G null K R 1040 1040 missense 0.045 benign 0.06 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1041874187 17q11.2 17 30860600G> C null D H 1042 1042 missense 0.436 benign 0.09 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,NCI-TCGA,gnomAD rs775048331 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30860607C> T null S F 1044 1044 missense 0.053 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1567690671 17q11.2 17 30865704A> T null D V 1046 1046 missense 0.276 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1278002442 17q11.2 17 30860612G> T null D Y 1046 1046 missense 0.459 possibly damaging 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1310834063 17q11.2 17 30865707C> T null S F 1047 1047 missense 0.177 benign 0.07 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1389025317 17q11.2 17 30865709G> T null G * 1048 1048 stop gained 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1424665087 17q11.2 17 30865710G> T null G V 1048 1048 missense 0.282 benign 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs866861359 17q11.2 17 30865720C> A null D E 1051 1051 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1330277681 17q11.2 17 30865754G> T null A S 1063 1063 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1389248557 17q11.2 17 30865758G> A null S N 1064 1064 missense 0.007 benign 0.13 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC rs765853998 17q11.2 17 30865762A> T null E D 1065 1065 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 NCI-TCGA,gnomAD rs776130286 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30865767T> C null I T 1067 1067 missense 0.035 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1294069015 17q11.2 17 30865766A> G null I V 1067 1067 missense 0.001 benign 0.62 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs140344265 17q11.2 17 30865784A> C null I L 1073 1073 missense 0.03 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs758723703 17q11.2 17 30865785T> C null I T 1073 1073 missense 0.07 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1409318364 17q11.2 17 30868333T> G null S R 1078 1078 missense 0.988 probably damaging 0.04 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs773036922 17q11.2 17 30868341A> G null K R 1081 1081 missense 0.277 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs760846475 17q11.2 17 30868344A> G null D G 1082 1082 missense 0.216 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1246887300 17q11.2 17 30868343G> C null D H 1082 1082 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs771172016 17q11.2 17 30868358G> A null A T 1087 1087 missense 0.941 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs759695377 17q11.2 17 30868374G> A null R K 1092 1092 missense 0.001 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs776936303 17q11.2 17 30868373A> T null R W 1092 1092 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs765370161 17q11.2 17 30868379A> C null N H 1094 1094 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs753281851 17q11.2 17 30868380A> T null N I 1094 1094 missense 0.285 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1298848199 17q11.2 17 30868391A> G null K E 1098 1098 missense 0.007 benign 0.15 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs916150523 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q11.2 17 30868394A> G null R G 1099 1099 missense 0.055 benign 0.01 deleterious 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1222304226 17q11.2 17 30868396A> C null R S 1099 1099 missense 0.007 benign 0.11 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs763498233 17q11.2 17 30868405A> C null K N 1102 1102 missense 0.897 possibly damaging 0.05 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs201422070 17q11.2 17 30868408T> G null H Q 1103 1103 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs896689678 17q11.2 17 30868407A> G null H R 1103 1103 missense 0.0 benign 0.05 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1323988015 17q11.2 17 30868409G> C null E Q 1104 1104 missense 0.021 benign 0.51 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs552886395 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:413 17q11.2 17 30869254C> T null S L 1107 1107 2.0E-4 missense 0.003 benign 0.66 tolerated 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs199612678 17q11.2 17 30869257G> A null G D 1108 1108 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs199612678 17q11.2 17 30869257G> T null G V 1108 1108 missense 0.048 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs777026122 17q11.2 17 30869262A> C null I L 1110 1110 missense 0.0 benign 1.0 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs777026122 17q11.2 17 30869262A> G null I V 1110 1110 missense 0.009 benign 0.3 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1274758259 17q11.2 17 30869275G> T null G V 1114 1114 missense 0.146 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1319386228 17q11.2 17 30869278G> A null S N 1115 1115 missense 0.052 benign 0.24 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,TOPMed rs376519309 17q11.2 17 30869294A> C null E D 1120 1120 missense 0.038 benign 0.05 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1013071883 17q11.2 17 30869299G> A null S N 1122 1122 missense 0.001 benign 0.56 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs770050678 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 17q11.2 17 30869301C> T null R C 1123 1123 missense 0.003 benign 0.1 tolerated 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs775683918 17q11.2 17 30869302G> T null R L 1123 1123 missense 0.039 benign 0.31 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1201979212 17q11.2 17 30869304C> T null L F 1124 1124 missense 0.081 benign 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1201979212 17q11.2 17 30869304C> G null L V 1124 1124 missense 0.585 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs200618453 17q11.2 17 30869308G> C null C S 1125 1125 missense 0.751 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1261499587 17q11.2 17 30869310A> T null N Y 1126 1126 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1225481275 17q11.2 17 30869316G> A null V I 1128 1128 missense 0.869 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs763441600 17q11.2 17 30869325A> G null T A 1131 1131 missense 0.097 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs201809931 17q11.2 17 30869326C> T null T I 1131 1131 missense 0.646 possibly damaging 0.03 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs764645127 17q11.2 17 30869331C> T null P S 1133 1133 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1406548057 17q11.2 17 30869349A> T null T S 1139 1139 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs865881680 17q11.2 17 30869355G> T null A S 1141 1141 missense 0.666 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC rs774658903 17q11.2 17 30869373C> G null Q E 1147 1147 missense 0.826 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs370130737 17q11.2 17 30869374A> G null Q R 1147 1147 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs753509003 17q11.2 17 30869390G> T null K N 1152 1152 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs757232909 17q11.2 17 30869496A> G null I V 1153 1153 missense 0.297 benign 0.1 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1442831543 17q11.2 17 30869518C> G null S C 1160 1160 missense 0.236 benign 0.53 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs182945728 cosmic curated [Cosmic]: endometrium cosmic_study:419 17q11.2 17 30869524G> A null R H 1162 1162 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs755910306 17q11.2 17 30869533G> A null R K 1165 1165 missense 0.78 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs780324947 17q11.2 17 30869539T> C null I T 1167 1167 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs761382924 17q11.2 17 30869547C> T null Q * 1170 1170 stop gained 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1326216430 17q11.2 17 30869554A> T null K M 1172 1172 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1206051321 17q11.2 17 30869556G> A null E K 1173 1173 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1318960567 17q11.2 17 30869563C> T null T I 1175 1175 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs574858048 17q11.2 17 30869566A> G null Q R 1176 1176 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1203263805 17q11.2 17 30869569C> T null S F 1177 1177 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1427604293 17q11.2 17 30869571C> T null H Y 1178 1178 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1244033902 17q11.2 17 30869574C> T null Q * 1179 1179 stop gained 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1244033902 17q11.2 17 30869574C> G null Q E 1179 1179 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs772562125 17q11.2 17 30869581A> G null D G 1181 1181 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1176893572 17q11.2 17 30869584A> G null K R 1182 1182 missense 0.835 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs773624325 17q11.2 17 30869586C> A null Q K 1183 1183 missense 0.264 benign 0.55 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1202473176 17q11.2 17 30869590G> A null G D 1184 1184 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs761031980 17q11.2 17 30869589G> A null G S 1184 1184 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs199637773 17q11.2 17 30869592G> A null V I 1185 1185 2.0E-4 missense 0.056 benign 0.32 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1453632317 17q11.2 17 30869598T> G null S A 1187 1187 missense 0.005 benign 0.99 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1263882975 17q11.2 17 30869606A> T null K N 1189 1189 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 1000Genomes,ExAC,gnomAD rs555978758 17q11.2 17 30869607C> A null P T 1190 1190 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1336967402 17q11.2 17 30869610T> G null C G 1191 1191 missense 0.798 possibly damaging 0.01 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,gnomAD rs763702755 17q11.2 17 30869611G> A null C Y 1191 1191 missense 0.16 benign 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1021870588 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q11.2 17 30869618T> A null F L 1193 1193 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed rs1262262475 17q11.2 17 30869643C> T null P S 1202 1202 missense 0.936 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ExAC,TOPMed,gnomAD rs755122204 17q11.2 17 30876378A> T null K N 1204 1204 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 gnomAD rs1396602064 17q11.2 17 30876382A> G null S G 1206 1206 missense 0.183 benign 0.32 tolerated 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1404674219 17q11.2 17 30876415A> G null K E 1217 1217 missense 0.457 possibly damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 Ensembl rs1567695536 17q11.2 17 30876421C> A null P T 1219 1219 missense 0.163 benign 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 TOPMed,gnomAD rs1325855113 17q11.2 17 30876425C> T null P L 1220 1220 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B754 ATAD5 ATPase family AAA domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs145425613 17q11.2 17 30876424C> T null P S 1220 1220 missense 0.972 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1203186927 1q21.2 1 148595711C> T null V I 3 3 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1203186927 1q21.2 1 148595711C> A null V L 3 3 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1254058776 1q21.2 1 148595704G> T null A D 5 5 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1476891722 1q21.2 1 148595702C> A null G C 6 6 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1476891722 1q21.2 1 148595702C> T null G S 6 6 missense 0.648 possibly damaging 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1375605580 1q21.2 1 148595695C> G null W S 8 8 missense 0.264 benign 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1305695072 1q21.2 1 148595688A> C null S R 10 10 missense 0.991 probably damaging 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1392509395 1q21.2 1 148595678C> T null E K 14 14 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1304615342 1q21.2 1 148595655G> C null N K 21 21 missense 0.995 probably damaging 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1341787082 1q21.2 1 148595650G> T null T K 23 23 missense 0.0 benign 0.98 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1276915561 1q21.2 1 148595645G> A null R C 25 25 missense 0.799 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1196334786 1q21.2 1 148595644C> T null R H 25 25 missense 0.011 benign 0.16 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1196334786 1q21.2 1 148595644C> A null R L 25 25 missense 0.427 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1448541941 1q21.2 1 148595625C> G null K N 31 31 missense 0.0 benign 0.83 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1166287906 1q21.2 1 148595620T> A null Q L 33 33 missense 0.314 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1374317401 1q21.2 1 148595617T> G null Q P 34 34 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1293462207 1q21.2 1 148595608T> C null N S 37 37 missense 0.001 benign 0.29 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1389287966 1q21.2 1 148595603T> C null K E 39 39 missense 0.003 benign 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1389016688 1q21.2 1 148595599T> G null E A 40 40 missense 0.343 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1226507539 1q21.2 1 148595590A> G null F S 43 43 missense 0.165 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1300039745 1q21.2 1 148595584G> T null T N 45 45 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1244074466 1q21.2 1 148595581T> G null Q P 46 46 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1263755885 1q21.2 1 148595576C> A null A S 48 48 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1253427207 1q21.2 1 148595573C> T null G S 49 49 missense 0.659 possibly damaging 0.3 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1263313961 1q21.2 1 148595559G> T null N K 53 53 missense 0.003 benign 0.19 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1464231702 1q21.2 1 148595560T> C null N S 53 53 missense 0.081 benign 0.05 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1428739885 1q21.2 1 148595557T> C null Q R 54 54 missense 0.0 benign 0.42 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1366175628 1q21.2 1 148595550C> G null K N 56 56 missense 0.007 benign 0.76 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1463516075 1q21.2 1 148595548T> C null K R 57 57 missense 0.981 probably damaging 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1388398442 1q21.2 1 148595543T> C null K E 59 59 missense 0.003 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1338380901 1q21.2 1 148593699C> G null K N 59 59 missense 0.217 benign 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1265522963 1q21.2 1 148593696A> T null Y * 60 60 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1246489846 1q21.2 1 148593698A> C null Y D 60 60 missense 0.899 possibly damaging 0.43 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1425803058 1q21.2 1 148593662T> C null R G 72 72 missense 0.549 possibly damaging 0.27 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1425803058 1q21.2 1 148593662T> A null R W 72 72 missense 0.926 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1379772630 1q21.2 1 148593657A> T null N K 73 73 missense 0.986 probably damaging 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1188439575 1q21.2 1 148593658T> C null N S 73 73 missense 0.971 probably damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1418015714 1q21.2 1 148593653G> A null R * 75 75 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1160522866 1q21.2 1 148593652C> T null R Q 75 75 missense 0.116 benign 0.24 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1454224249 1q21.2 1 148593637T> C null E G 80 80 missense 0.124 benign 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1302084328 1q21.2 1 148593632G> A null L F 82 82 missense 0.015 benign 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1399716751 1q21.2 1 148593631A> C null L R 82 82 missense 0.735 possibly damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1397418685 1q21.2 1 148593629C> A null A S 83 83 missense 0.258 benign 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1375675086 1q21.2 1 148593623G> A null Q * 85 85 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1310768932 1q21.2 1 148593613T> G null Q P 88 88 missense 0.001 benign 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1209970965 1q21.2 1 148593610G> A null A V 89 89 missense 0.164 benign 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs71231122 1q21.2 1 148593602G> A null L F 92 92 missense 0.55 possibly damaging 0.08 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1430304585 1q21.2 1 148592766C> A null R S 93 93 missense 0.085 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1166257864 1q21.2 1 148592760A> T null Y * 95 95 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1465249497 1q21.2 1 148592761T> A null Y F 95 95 missense 0.554 possibly damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1398638534 1q21.2 1 148592757T> G null K N 96 96 missense 0.723 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1364857734 1q21.2 1 148592750C> A null V F 99 99 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1402930269 1q21.2 1 148592747G> A null H Y 100 100 missense 0.647 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1284907120 1q21.2 1 148592744A> C null S A 101 101 missense 0.039 benign 0.15 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1345788890 1q21.2 1 148592741G> T null Q K 102 102 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1226158832 1q21.2 1 148592738C> A null E * 103 103 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1195867916 1q21.2 1 148592735G> A null R * 104 104 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1195867916 1q21.2 1 148592735G> C null R G 104 104 missense 0.444 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1489996528 1q21.2 1 148592734C> A null R L 104 104 missense 0.522 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1489996528 1q21.2 1 148592734C> T null R Q 104 104 missense 0.661 possibly damaging 0.1 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1225209400 1q21.2 1 148592725G> C null T S 107 107 missense 0.084 benign 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1191227445 1q21.2 1 148592719A> G null L P 109 109 missense 0.899 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1428144215 1q21.2 1 148592720G> C null L V 109 109 missense 0.717 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1375001353 1q21.2 1 148592716C> T null R K 110 110 missense 0.0 benign 0.21 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1162988206 1q21.2 1 148592714C> A null E * 111 111 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1304735515 1q21.2 1 148592704C> T null R Q 114 114 missense 0.374 benign 0.34 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1422623448 1q21.2 1 148592705G> A null R W 114 114 missense 0.003 benign 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1381428153 1q21.2 1 148592699C> G null G R 116 116 missense 0.962 probably damaging 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1381428153 1q21.2 1 148592699C> A null G W 116 116 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1315864507 1q21.2 1 148592695C> T null R K 117 117 missense 0.969 probably damaging 0.19 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1327796818 1q21.2 1 148592690C> T null A T 119 119 missense 0.805 possibly damaging 0.1 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1227579182 1q21.2 1 148592689G> A null A V 119 119 missense 0.57 possibly damaging 0.15 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1357962374 1q21.2 1 148592684G> A null R C 121 121 missense 0.997 probably damaging 0.19 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1292973541 1q21.2 1 148592680G> T null S * 122 122 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1485777800 1q21.2 1 148592675A> T null Y N 124 124 missense 0.0 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1383389776 1q21.2 1 148592647G> A null P L 133 133 missense 0.003 benign 0.45 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1165459782 1q21.2 1 148592645A> C null Y D 134 134 missense 0.0 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1368980049 1q21.2 1 148592642C> T null E K 135 135 missense 0.003 benign 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1156570342 1q21.2 1 148592638G> A null P L 136 136 missense 0.83 possibly damaging 0.29 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1382394511 1q21.2 1 148592634G> C null D E 137 137 missense 0.546 possibly damaging 0.18 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1335496576 1q21.2 1 148592633T> G null K Q 138 138 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1379864273 1q21.2 1 148592630A> C null S A 139 139 missense 0.969 probably damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1454103895 1q21.2 1 148592623C> A null G V 141 141 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1316404862 1q21.2 1 148592621G> C null Q E 142 142 missense 0.332 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1237366778 1q21.2 1 148592620T> A null Q L 142 142 missense 0.37 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1237366778 1q21.2 1 148592620T> C null Q R 142 142 missense 0.448 possibly damaging 0.22 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1203206800 1q21.2 1 148592608T> C null E G 146 146 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1462766710 1q21.2 1 148592600C> A null A S 149 149 missense 0.683 possibly damaging 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1256836045 1q21.2 1 148592593C> A null G V 151 151 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1418378913 1q21.2 1 148592588T> C null R G 153 153 missense 0.448 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1179436065 1q21.2 1 148592579G> T null Q K 156 156 missense 0.879 possibly damaging 0.21 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1457451968 1q21.2 1 148592573G> A null L F 158 158 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1457451968 1q21.2 1 148592573G> C null L V 158 158 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1403432184 1q21.2 1 148592562C> G null K N 161 161 missense 0.785 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1470699647 1q21.2 1 148592560A> G null L P 162 162 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1302871201 1q21.2 1 148592555G> A null P S 164 164 missense 0.55 possibly damaging 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1398177927 1q21.2 1 148591495T> C null E G 168 168 missense 0.736 possibly damaging 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1400662098 1q21.2 1 148591496C> T null E K 168 168 missense 0.661 possibly damaging 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1226857428 1q21.2 1 148591492T> C null D G 169 169 missense 0.766 possibly damaging 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1226857428 1q21.2 1 148591492T> A null D V 169 169 missense 0.918 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1290441488 1q21.2 1 148591490C> T null E K 170 170 missense 0.647 possibly damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1342741648 1q21.2 1 148591477A> T null V D 174 174 missense 0.865 possibly damaging 0.64 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1255365801 1q21.2 1 148591478C> T null V I 174 174 missense 0.647 possibly damaging 0.3 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1255365801 1q21.2 1 148591478C> G null V L 174 174 missense 0.554 possibly damaging 0.5 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1201963197 1q21.2 1 148591475G> A null Q * 175 175 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1179651146 1q21.2 1 148591462G> T null A D 179 179 missense 0.0 benign 0.36 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1419200174 1q21.2 1 148591456T> A null K I 181 181 missense 0.494 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1467977522 1q21.2 1 148591451G> C null L V 183 183 missense 0.152 benign 0.52 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1370406102 1q21.2 1 148591448C> T null E K 184 184 missense 0.011 benign 0.24 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1258923451 1q21.2 1 148590966T> A null E V 190 190 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1205515240 1q21.2 1 148590964C> A null V L 191 191 missense 0.003 benign 0.47 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1205515240 1q21.2 1 148590964C> T null V M 191 191 missense 0.023 benign 0.15 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1484563995 1q21.2 1 148590956C> A null K N 193 193 missense 0.785 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1553796767 1q21.2 1 148590955C> T null A T 194 194 missense 0.003 benign 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1471993294 1q21.2 1 148590949C> G null E Q 196 196 missense 0.275 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1179002479 1q21.2 1 148590948T> A null E V 196 196 missense 0.007 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1366065332 1q21.2 1 148590944G> C null S R 197 197 missense 0.414 benign 0.23 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1454712212 1q21.2 1 148590943T> C null K E 198 198 missense 0.37 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1374098807 1q21.2 1 148590939A> G null V A 199 199 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1374098807 1q21.2 1 148590939A> C null V G 199 199 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1436937243 1q21.2 1 148590937G> C null P A 200 200 missense 0.005 benign 0.18 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1313771395 1q21.2 1 148590933T> C null E G 201 201 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1350059125 1q21.2 1 148590931C> A null D Y 202 202 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1408084182 1q21.2 1 148590922C> G null E Q 205 205 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1309159902 1q21.2 1 148590915C> T null C Y 207 207 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1239761723 1q21.2 1 148590913C> G null A P 208 208 missense 0.918 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1239761723 1q21.2 1 148590913C> T null A T 208 208 missense 0.703 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1255304397 1q21.2 1 148590910T> C null I V 209 209 missense 0.029 benign 0.82 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1345525054 1q21.2 1 148590907T> C null T A 210 210 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1212697162 1q21.2 1 148590906G> C null T S 210 210 missense 0.969 probably damaging 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1252123362 1q21.2 1 148590888C> T null G D 216 216 missense 0.929 probably damaging 0.08 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1193589170 1q21.2 1 148590889C> T null G S 216 216 missense 0.333 benign 0.1 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1198827915 1q21.2 1 148590880C> G null D H 219 219 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1393785590 1q21.2 1 148590873T> A null N I 221 221 missense 0.006 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1455879056 1q21.2 1 148590872G> C null N K 221 221 missense 0.366 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1174582692 1q21.2 1 148590871G> A null Q * 222 222 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1300108809 1q21.2 1 148590869C> A null Q H 222 222 missense 0.984 probably damaging 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1370197288 1q21.2 1 148590870T> G null Q P 222 222 missense 0.948 probably damaging 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1397347653 1q21.2 1 148590861T> C null K R 225 225 missense 0.794 possibly damaging 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1302607579 1q21.2 1 148590856T> A null I F 227 227 missense 0.719 possibly damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1236230434 1q21.2 1 148590847T> G null T P 230 230 missense 0.991 probably damaging 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1341183855 1q21.2 1 148590832C> T null E K 235 235 missense 0.0 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1202088364 1q21.2 1 148590823A> G null S P 238 238 missense 0.943 probably damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1480702527 1q21.2 1 148590811C> T null V I 242 242 missense 0.826 possibly damaging 0.23 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1251686217 1q21.2 1 148590795G> C null S C 247 247 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1470174210 1q21.2 1 148590792T> C null H R 248 248 missense 0.548 possibly damaging 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1194789560 1q21.2 1 148590789T> C null D G 249 249 missense 0.546 possibly damaging 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1427073702 1q21.2 1 148590784A> G null C R 251 251 missense 0.805 possibly damaging 0.82 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1373807323 1q21.2 1 148590777T> C null D G 253 253 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1457500340 1q21.2 1 148590774G> A null A V 254 254 missense 0.647 possibly damaging 0.05 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1392223994 1q21.2 1 148590769T> C null N D 256 256 missense 0.061 benign 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1443092487 1q21.2 1 148590763G> C null L V 258 258 missense 0.848 possibly damaging 0.15 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1212565600 1q21.2 1 148590757C> A null V F 260 260 missense 0.274 benign 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1212565600 1q21.2 1 148590757C> T null V I 260 260 missense 0.203 benign 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1277499214 1q21.2 1 148589387C> T null G D 262 262 missense 0.532 possibly damaging 0.18 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1200449625 1q21.2 1 148589343C> T null G S 277 277 missense 0.163 benign 0.15 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1273496997 1q21.2 1 148589336A> C null L W 279 279 missense 0.03 benign 0.36 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1248054175 1q21.2 1 148589297T> G null N T 292 292 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1490372179 1q21.2 1 148589291T> G null K T 294 294 missense 0.099 benign 0.05 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1192233596 1q21.2 1 148589286G> A null R C 296 296 missense 0.031 benign 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1420820544 1q21.2 1 148589285C> T null R H 296 296 missense 0.021 benign 0.17 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1171978153 1q21.2 1 148589237T> C null K R 312 312 missense 0.618 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1403910905 1q21.2 1 148589229G> C null L V 315 315 missense 0.001 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1325774646 1q21.2 1 148589217A> C null S A 319 319 missense 0.0 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1399614543 1q21.2 1 148589207A> C null L R 322 322 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1220447877 1q21.2 1 148589199G> A null Q * 325 325 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1220447877 1q21.2 1 148589199G> C null Q E 325 325 missense 0.155 benign 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1270645444 1q21.2 1 148589198T> C null Q R 325 325 missense 0.049 benign 0.28 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1226334446 1q21.2 1 148589191C> G null K N 327 327 missense 0.001 benign 0.99 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1223702138 1q21.2 1 148587399A> C null Y * 331 331 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1209629731 1q21.2 1 148587393C> G null E D 333 333 missense 0.92 probably damaging 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1440880704 1q21.2 1 148587389T> C null K E 335 335 missense 0.026 benign 0.19 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1189788030 1q21.2 1 148587385T> C null D G 336 336 missense 0.55 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1473095213 1q21.2 1 148587373A> C null F C 340 340 missense 0.482 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1181283915 1q21.2 1 148587371T> C null M V 341 341 missense 0.122 benign 0.77 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1409528919 1q21.2 1 148587365T> C null R G 343 343 missense 0.076 benign 0.32 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1458576641 1q21.2 1 148587364C> T null R K 343 343 missense 0.155 benign 0.39 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1404948550 1q21.2 1 148587356G> A null R * 346 346 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1412392011 1q21.2 1 148587355C> T null R Q 346 346 missense 0.027 benign 0.2 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1340486424 1q21.2 1 148587350A> G null F L 348 348 missense 0.665 possibly damaging 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1352737803 1q21.2 1 148587345C> A null K N 349 349 missense 0.521 possibly damaging 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1442122920 1q21.2 1 148587347T> G null K Q 349 349 missense 0.372 benign 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1229440962 1q21.2 1 148587341C> G null E Q 351 351 missense 0.976 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1283039107 1q21.2 1 148587331G> A null A V 354 354 missense 0.85 possibly damaging 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1202336328 1q21.2 1 148587326G> A null Q * 356 356 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1437279044 1q21.2 1 148587313G> A null A V 360 360 missense 0.696 possibly damaging 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1204379768 1q21.2 1 148587309C> G null E D 361 361 missense 0.544 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1182711923 1q21.2 1 148587301C> G null R T 364 364 missense 0.7 possibly damaging 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1408131714 1q21.2 1 148586461T> C null K R 367 367 missense 0.113 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1172290453 1q21.2 1 148586459C> A null V F 368 368 missense 0.257 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1354834460 1q21.2 1 148586458A> C null V G 368 368 missense 0.775 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1441058534 1q21.2 1 148586453C> T null V I 370 370 missense 0.084 benign 0.42 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1296778701 1q21.2 1 148586447C> A null A S 372 372 missense 0.007 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1296778701 1q21.2 1 148586447C> T null A T 372 372 missense 0.027 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1321444024 1q21.2 1 148586446G> A null A V 372 372 missense 0.036 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1212183961 1q21.2 1 148586438G> A null R * 375 375 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1275321970 1q21.2 1 148586437C> T null R Q 375 375 missense 0.163 benign 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1240375700 1q21.2 1 148586429T> G null T P 378 378 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1188162715 1q21.2 1 148586421T> A null L F 380 380 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1419992404 1q21.2 1 148586420T> C null R G 381 381 missense 0.145 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1423079878 1q21.2 1 148586419C> T null R K 381 381 missense 0.005 benign 0.19 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1433524166 1q21.2 1 148586407C> A null R L 385 385 missense 0.555 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1433524166 1q21.2 1 148586407C> G null R P 385 385 missense 0.49 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1433524166 1q21.2 1 148586407C> T null R Q 385 385 missense 0.115 benign 0.37 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1461585273 1q21.2 1 148586408G> A null R W 385 385 missense 0.063 benign 0.08 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1231913498 1q21.2 1 148586396C> G null D H 389 389 missense 0.43 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1231913498 1q21.2 1 148586396C> T null D N 389 389 missense 0.677 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1335749226 1q21.2 1 148586392G> T null A D 390 390 missense 0.171 benign 0.23 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1335749226 1q21.2 1 148586392G> A null A V 390 390 missense 0.108 benign 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1448763075 1q21.2 1 148586387G> A null R C 392 392 missense 0.009 benign 0.25 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs879428781 1q21.2 1 148586386C> T null R H 392 392 missense 0.015 benign 0.6 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs879428781 1q21.2 1 148586386C> A null R L 392 392 missense 0.007 benign 0.64 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1242675234 1q21.2 1 148586384A> G null S P 393 393 missense 0.341 benign 0.25 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1185547687 1q21.2 1 148586378T> A null N Y 395 395 missense 0.036 benign 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1419674795 1q21.2 1 148586375C> G null E Q 396 396 missense 0.009 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1157581151 1q21.2 1 148586372G> T null H N 397 397 missense 0.2 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1401976958 1q21.2 1 148586366G> C null Q E 399 399 missense 0.07 benign 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1413415723 1q21.2 1 148586357G> C null L V 402 402 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1278052350 1q21.2 1 148586353G> A null T I 403 403 missense 0.661 possibly damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1409472280 1q21.2 1 148586354T> G null T P 403 403 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1224471325 1q21.2 1 148586350G> A null P L 404 404 missense 0.042 benign 0.61 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1208590552 1q21.2 1 148586346A> C null D E 405 405 missense 0.081 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1347065932 1q21.2 1 148586348C> A null D Y 405 405 missense 0.012 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1259381533 1q21.2 1 148586341G> A null P L 407 407 missense 0.066 benign 0.35 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1230885643 1q21.2 1 148586337G> C null D E 408 408 missense 0.444 benign 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1180782767 1q21.2 1 148586339C> G null D H 408 408 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1158659422 1q21.2 1 148586323T> G null Q P 413 413 missense 0.561 possibly damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1433438794 1q21.2 1 148586321C> T null D N 414 414 missense 0.341 benign 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1176027219 1q21.2 1 148586299T> A null E V 421 421 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1429561046 1q21.2 1 148586296C> T null G E 422 422 missense 0.749 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1429561046 1q21.2 1 148586296C> A null G V 422 422 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1337817050 1q21.2 1 148586293C> A null C F 423 423 missense 0.113 benign 0.1 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 Ensembl rs71241060 1q21.2 1 148586285C> T null A T 426 426 missense 0.16 benign 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1443117895 1q21.2 1 148586282G> A null Q * 427 427 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1368813132 1q21.2 1 148586280C> G null Q H 427 427 missense 0.916 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1282432344 1q21.2 1 148586278T> C null H R 428 428 missense 0.017 benign 0.42 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1236557899 1q21.2 1 148586279G> A null H Y 428 428 missense 0.574 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1348497693 1q21.2 1 148586276G> T null L I 429 429 missense 0.857 possibly damaging 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1195064740 1q21.2 1 148586275A> C null L R 429 429 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1270546723 1q21.2 1 148586273C> G null V L 430 430 missense 0.661 possibly damaging 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1182037475 1q21.2 1 148586264G> T null L I 433 433 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1478231229 1q21.2 1 148585213T> G null E A 436 436 missense 0.253 benign 0.08 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1366741954 1q21.2 1 148585206G> C null D E 438 438 missense 0.007 benign 0.21 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1164972825 1q21.2 1 148585202C> T null D N 440 440 missense 0.33 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1164972825 1q21.2 1 148585202C> A null D Y 440 440 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1366112541 1q21.2 1 148585198T> C null D G 441 441 missense 0.011 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1296055915 1q21.2 1 148585196C> T null D N 442 442 missense 0.062 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1362068775 1q21.2 1 148585195T> A null D V 442 442 missense 0.205 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1382400769 1q21.2 1 148585190C> T null D N 444 444 missense 0.053 benign 0.2 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1311420837 1q21.2 1 148585184G> A null Q * 446 446 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1246320381 1q21.2 1 148585180A> C null V G 447 447 missense 0.113 benign 0.37 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1338245450 1q21.2 1 148585181C> T null V I 447 447 missense 0.003 benign 0.28 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1238432345 1q21.2 1 148585175C> A null V L 449 449 missense 0.003 benign 0.31 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1238432345 1q21.2 1 148585175C> T null V M 449 449 missense 0.521 possibly damaging 0.1 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1288547691 1q21.2 1 148585172C> T null A T 450 450 missense 0.333 benign 0.38 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1444264612 1q21.2 1 148585153G> A null S L 456 456 missense 0.138 benign 0.19 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1200140800 1q21.2 1 148585154A> G null S P 456 456 missense 0.087 benign 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1444264612 1q21.2 1 148585153G> C null S W 456 456 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1385801221 1q21.2 1 148585148C> A null A S 458 458 missense 0.013 benign 0.14 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1438937949 1q21.2 1 148585147G> A null A V 458 458 missense 0.025 benign 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1454103639 1q21.2 1 148585145G> C null P A 459 459 missense 0.702 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1301941342 1q21.2 1 148585144G> C null P R 459 459 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1454103639 1q21.2 1 148585145G> A null P S 459 459 missense 0.169 benign 0.15 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1336737180 1q21.2 1 148585142T> C null R G 460 460 missense 0.433 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1304671036 1q21.2 1 148584676C> G null R S 460 460 missense 0.036 benign 0.19 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1398963781 1q21.2 1 148584672T> C null M V 462 462 missense 0.003 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1315751145 1q21.2 1 148584669G> C null Q E 463 463 missense 0.173 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1327729733 1q21.2 1 148584666T> C null K E 464 464 missense 0.061 benign 0.43 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1227501135 1q21.2 1 148584663C> T null A T 465 465 missense 0.087 benign 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1354776339 1q21.2 1 148584654T> C null K E 468 468 missense 0.109 benign 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1292894041 1q21.2 1 148584652C> G null K N 468 468 missense 0.183 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1248637366 1q21.2 1 148584653T> C null K R 468 468 missense 0.02 benign 0.19 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1488101666 1q21.2 1 148584651C> T null E K 469 469 missense 0.395 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1214787603 1q21.2 1 148584647A> G null V A 470 470 missense 0.747 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1264111266 1q21.2 1 148584637G> C null D E 473 473 missense 0.755 possibly damaging 0.15 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1447725649 1q21.2 1 148584633G> C null L V 475 475 missense 0.503 possibly damaging 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1236851725 1q21.2 1 148584622A> C null C W 478 478 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1442649512 1q21.2 1 148584620G> A null A V 479 479 missense 0.059 benign 0.41 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1418842097 1q21.2 1 148584614G> A null T I 481 481 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1418842097 1q21.2 1 148584614G> C null T S 481 481 missense 0.815 possibly damaging 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1156503722 1q21.2 1 148584611T> C null Y C 482 482 missense 0.0 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1386677464 1q21.2 1 148584605T> C null N S 484 484 missense 0.017 benign 0.33 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1382301697 1q21.2 1 148584597C> A null G C 487 487 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1455008522 1q21.2 1 148584594A> C null S A 488 488 missense 0.026 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1353516304 1q21.2 1 148584593G> C null S C 488 488 missense 0.649 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1353516304 1q21.2 1 148584593G> A null S F 488 488 missense 0.188 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1455008522 1q21.2 1 148584594A> G null S P 488 488 missense 0.0 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1262721664 1q21.2 1 148584586G> C null D E 490 490 missense 0.307 benign 0.39 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1238428993 1q21.2 1 148584588C> T null D N 490 490 missense 0.958 probably damaging 0.25 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1351604862 1q21.2 1 148584581T> C null N S 492 492 missense 0.059 benign 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1276542351 1q21.2 1 148584579G> C null Q E 493 493 missense 0.607 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1276542351 1q21.2 1 148584579G> T null Q K 493 493 missense 0.852 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1185395746 1q21.2 1 148584576G> T null P T 494 494 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1438924654 1q21.2 1 148584569C> T null R K 496 496 missense 0.108 benign 0.32 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1365194647 1q21.2 1 148584549C> T null E K 503 503 missense 0.155 benign 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1453950011 1q21.2 1 148584543C> T null D N 505 505 missense 0.541 possibly damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1470665089 1q21.2 1 148584534C> T null D N 508 508 missense 0.031 benign 0.18 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1338041448 1q21.2 1 148584530G> C null S * 509 509 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1376729811 1q21.2 1 148584527G> A null T I 510 510 missense 0.438 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1309544331 1q21.2 1 148584519C> A null G C 513 513 missense 0.155 benign 0.16 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1336613445 1q21.2 1 148584510A> G null S P 516 516 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1232860112 1q21.2 1 148584507G> C null H D 517 517 missense 0.979 probably damaging 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1261472785 1q21.2 1 148584506T> G null H P 517 517 missense 0.398 benign 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1204380457 1q21.2 1 148584504C> T null V I 518 518 missense 0.07 benign 0.28 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1457217868 1q21.2 1 148584496C> A null W C 520 520 missense 0.012 benign 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1263683426 1q21.2 1 148584498A> C null W G 520 520 missense 0.007 benign 0.62 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1193876680 1q21.2 1 148584489C> T null A T 523 523 missense 0.321 benign 0.37 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1419416064 1q21.2 1 148584480T> A null I F 526 526 missense 0.926 probably damaging 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1197803254 1q21.2 1 148584477T> A null I F 527 527 missense 0.049 benign 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1481136168 1q21.2 1 148584475A> C null I M 527 527 missense 0.124 benign 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1176449692 1q21.2 1 148584473G> A null P L 528 528 missense 0.907 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1400244188 1q21.2 1 148584471C> A null E * 529 529 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1328781369 1q21.2 1 148579237C> A null R S 546 546 missense 0.237 benign 0.31 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1236083509 1q21.2 1 148579221C> T null E K 552 552 missense 0.614 possibly damaging 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1275912639 1q21.2 1 148579218C> T null E K 553 553 missense 0.444 benign 0.25 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1217229677 1q21.2 1 148579212C> A null E * 555 555 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1217229677 1q21.2 1 148579212C> T null E K 555 555 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1458432278 1q21.2 1 148579208A> G null V A 556 556 missense 0.062 benign 0.26 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1260372145 1q21.2 1 148579209C> T null V I 556 556 missense 0.79 possibly damaging 0.19 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1453345161 1q21.2 1 148579200C> T null E K 559 559 missense 0.64 possibly damaging 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1378170041 1q21.2 1 148579196G> C null S C 560 560 missense 0.99 probably damaging 0.05 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1378170041 1q21.2 1 148579196G> T null S Y 560 560 missense 0.947 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1168341367 1q21.2 1 148579192C> T null W * 561 561 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1477440160 1q21.2 1 148579193C> G null W S 561 561 missense 0.614 possibly damaging 0.3 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1425500681 1q21.2 1 148579191C> T null D N 562 562 missense 0.986 probably damaging 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1465821393 1q21.2 1 148579178G> A null S L 566 566 missense 0.045 benign 0.94 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1387974613 1q21.2 1 148579172A> G null L P 568 568 missense 0.011 benign 0.24 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1323611788 1q21.2 1 148579163G> A null P L 571 571 missense 0.373 benign 0.73 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1340501676 1q21.2 1 148579161G> A null P S 572 572 missense 0.086 benign 0.22 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1318960352 1q21.2 1 148579154A> C null M R 574 574 missense 0.005 benign 0.62 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1318960352 1q21.2 1 148579154A> G null M T 574 574 missense 0.114 benign 0.62 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1398683932 1q21.2 1 148579155T> C null M V 574 574 missense 0.043 benign 0.39 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1263859508 1q21.2 1 148579145G> A null S L 577 577 missense 0.139 benign 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1261108503 1q21.2 1 148579140G> T null Q K 579 579 missense 0.007 benign 0.14 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1191331091 1q21.2 1 148579137A> C null S A 580 580 missense 0.281 benign 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1191331091 1q21.2 1 148579137A> T null S T 580 580 missense 0.535 possibly damaging 0.19 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1265076313 1q21.2 1 148579129G> T null S R 582 582 missense 0.009 benign 0.39 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1477996235 1q21.2 1 148579127C> T null S N 583 583 missense 0.06 benign 0.22 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1366396230 1q21.2 1 148579102C> A null Q H 591 591 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1163676872 1q21.2 1 148579104G> T null Q K 591 591 missense 0.017 benign 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1459102042 1q21.2 1 148579098C> T null V I 593 593 missense 0.771 possibly damaging 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1359348782 1q21.2 1 148579095A> T null C S 594 594 missense 0.036 benign 0.58 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1287958476 1q21.2 1 148578034C> T null R K 601 601 missense 0.02 benign 0.28 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1359372110 1q21.2 1 148578028C> T null R Q 603 603 missense 0.092 benign 0.48 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1215830844 1q21.2 1 148578008C> A null E * 610 610 missense 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1359441702 1q21.2 1 148578006C> G null E D 610 610 missense 0.06 benign 0.17 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1244408381 1q21.2 1 148578005C> T null D N 611 611 missense 0.059 benign 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1322664229 1q21.2 1 148578002G> A null Q * 612 612 missense 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1322664229 1q21.2 1 148578002G> C null Q E 612 612 missense 0.009 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1215468188 1q21.2 1 148577998T> A null E V 613 613 missense 0.205 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1240601839 1q21.2 1 148577995G> T null A E 614 614 missense 0.281 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1486936935 1q21.2 1 148577992G> A null T I 615 615 missense 0.283 benign 0.43 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1242599859 1q21.2 1 148577990C> A null G C 616 616 missense 0.019 benign 0.3 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1161566590 1q21.2 1 148577987G> C null P A 617 617 missense 0.135 benign 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1161566590 1q21.2 1 148577987G> T null P T 617 617 missense 0.135 benign 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1449256566 1q21.2 1 148577351T> A null S C 620 620 missense 0.784 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1410725105 1q21.2 1 148577342G> C null L V 623 623 missense 0.135 benign 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1443136182 1q21.2 1 148577336C> G null D H 625 625 missense 0.014 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1443136182 1q21.2 1 148577336C> A null D Y 625 625 missense 0.0 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1305558373 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148577329T> A null K I 627 627 missense 0.038 benign 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1553336047 1q21.2 1 148577326C> T null G E 628 628 missense 0.0 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1268179300 1q21.2 1 148577313C> G null L F 632 632 missense 0.006 benign 0.33 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1268179300 1q21.2 1 148577313C> A null L F 632 632 missense 0.006 benign 0.33 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1195987282 1q21.2 1 148577312G> A null Q * 633 633 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1449399043 1q21.2 1 148577309C> T null D N 634 634 missense 0.908 possibly damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1254180695 1q21.2 1 148577306A> G null S P 635 635 missense 0.82 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1187121205 1q21.2 1 148577299T> C null D G 637 637 missense 0.908 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1375109805 1q21.2 1 148577297T> C null R G 638 638 missense 0.0 benign 0.29 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1475923958 1q21.2 1 148577292A> C null C W 639 639 missense 0.706 possibly damaging 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1411827160 1q21.2 1 148577287G> T null S * 641 641 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1326662913 1q21.2 1 148577275C> T null G D 645 645 missense 0.001 benign 0.21 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1434247379 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148577270G> C null L V 647 647 missense 0.001 benign 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1328009169 1q21.2 1 148577267C> T null E K 648 648 missense 0.015 benign 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1328009169 1q21.2 1 148577267C> G null E Q 648 648 missense 0.026 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1227826058 1q21.2 1 148577263A> G null L P 649 649 missense 0.955 probably damaging 0.1 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1332126474 1q21.2 1 148577260G> A null T I 650 650 missense 0.001 benign 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1332126474 1q21.2 1 148577260G> C null T S 650 650 missense 0.0 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1234665004 1q21.2 1 148577249G> A null Q * 654 654 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1207427282 1q21.2 1 148577246G> C null P A 655 655 missense 0.908 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1264415202 1q21.2 1 148577245G> T null P H 655 655 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1207427282 1q21.2 1 148577246G> T null P T 655 655 missense 0.958 probably damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1187202589 1q21.2 1 148577240T> C null R G 657 657 missense 0.133 benign 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1236016198 1q21.2 1 148577238T> A null R S 657 657 missense 0.044 benign 0.21 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1476300040 1q21.2 1 148577236C> T null S N 658 658 missense 0.682 possibly damaging 0.08 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1411286920 1q21.2 1 148577225C> T null V I 662 662 missense 0.003 benign 0.5 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1386974827 1q21.2 1 148577219C> T null E K 664 664 missense 0.261 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1386974827 1q21.2 1 148577219C> G null E Q 664 664 missense 0.35 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1333257915 1q21.2 1 148577216G> T null Q K 665 665 missense 0.0 benign 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1293487995 1q21.2 1 148577210G> A null R C 667 667 missense 0.049 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1293487995 1q21.2 1 148577210G> C null R G 667 667 missense 0.001 benign 0.23 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1327892774 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148577209C> T null R H 667 667 missense 0.003 benign 0.91 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1263025252 1q21.2 1 148577203C> G null G A 669 669 missense 0.0 benign 0.39 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1263025252 1q21.2 1 148577203C> T null G D 669 669 missense 0.001 benign 0.16 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1352032615 1q21.2 1 148577201A> T null L M 670 670 missense 0.934 probably damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1278598962 1q21.2 1 148577194A> G null V A 672 672 missense 0.0 unknown 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1200302934 1q21.2 1 148577195C> T null V I 672 672 missense 0.001 benign 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1188956583 1q21.2 1 148577187C> T null M I 674 674 missense 0.0 benign 0.25 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1471657921 1q21.2 1 148577186C> G null D H 675 675 missense 0.557 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1471657921 1q21.2 1 148577186C> A null D Y 675 675 missense 0.557 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1220603600 1q21.2 1 148576459T> C null I V 677 677 missense 0.003 benign 0.26 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1489309934 1q21.2 1 148576456C> T null E K 678 678 missense 0.001 benign 0.76 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1489309934 1q21.2 1 148576456C> G null E Q 678 678 missense 0.01 benign 0.39 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1210074870 1q21.2 1 148576455T> A null E V 678 678 missense 0.015 benign 0.16 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1261931450 1q21.2 1 148576452T> A null K M 679 679 missense 0.891 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1195200403 1q21.2 1 148576447G> T null Q K 681 681 missense 0.0 benign 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1425036963 1q21.2 1 148576443T> C null E G 682 682 missense 0.607 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1423715482 1q21.2 1 148576441C> T null V M 683 683 missense 0.022 benign 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1370587510 1q21.2 1 148576430G> T null D E 686 686 missense 0.621 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1458682128 1q21.2 1 148576429G> C null Q E 687 687 missense 0.092 benign 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1358844336 1q21.2 1 148576422G> A null P L 689 689 missense 0.0 benign 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1288517579 1q21.2 1 148576423G> T null P T 689 689 missense 0.001 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1401977429 1q21.2 1 148576414G> A null P S 692 692 missense 0.105 benign 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1292694964 1q21.2 1 148575797A> G null L P 698 698 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1214509343 1q21.2 1 148575750A> G null C R 714 714 missense 0.426 benign 0.26 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1282110060 1q21.2 1 148575747A> G null Y H 715 715 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1193745626 1q21.2 1 148575697G> T null Y * 731 731 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782429630 1q21.2 1 148533248C> A null R S 862 862 missense 0.897 possibly damaging 0.1 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1250572156 1q21.2 1 148533247G> A null L F 863 863 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 Ensembl rs1558346089 1q21.2 1 148533246A> G null L P 863 863 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1250572156 1q21.2 1 148533247G> C null L V 863 863 missense 0.835 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs781802089 1q21.2 1 148533244T> C null N D 864 864 missense 0.216 benign 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs587703851 1q21.2 1 148533242G> T null N K 864 864 9.98E-4 missense 0.216 benign 0.05 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs1273698631 1q21.2 1 148533243T> C null N S 864 864 0.0601 missense 0.01 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs144889269 1q21.2 1 148533241C> A null G C 865 865 0.1805 missense 0.761 possibly damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147480284 1q21.2 1 148533240C> T null G D 865 865 0.01458 missense 0.144 benign 0.31 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs144889269 1q21.2 1 148533241C> T null G S 865 865 0.1805 missense 0.013 benign 0.41 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147480284 1q21.2 1 148533240C> A null G V 865 865 0.01458 missense 0.336 benign 0.18 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs79690623 1q21.2 1 148533238C> G null V L 866 866 0.2043 missense 0.031 benign 0.21 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs79690623 1q21.2 1 148533238C> T null V M 866 866 0.2043 missense 0.039 benign 0.08 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782366966 1q21.2 1 148533235G> T null L M 867 867 missense 0.762 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782366966 1q21.2 1 148533235G> C null L V 867 867 missense 0.933 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs189584556 1q21.2 1 148533230C> A null M I 868 868 2.0E-4 missense 0.093 benign 0.28 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs189584556 1q21.2 1 148533230C> G null M I 868 868 2.0E-4 missense 0.093 benign 0.28 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1294510775 1q21.2 1 148533231A> T null M K 868 868 missense 0.244 benign 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1405214960 1q21.2 1 148533232T> C null M V 868 868 missense 0.063 benign 0.16 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782426089 1q21.2 1 148533229C> A null E * 869 869 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1245269569 1q21.2 1 148533228T> G null E A 869 869 missense 0.717 possibly damaging 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1289719868 1q21.2 1 148533227T> A null E D 869 869 missense 0.037 benign 0.2 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1245269569 1q21.2 1 148533228T> C null E G 869 869 missense 0.65 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782426089 1q21.2 1 148533229C> T null E K 869 869 missense 0.173 benign 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782426089 1q21.2 1 148533229C> G null E Q 869 869 missense 0.831 possibly damaging 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1245269569 1q21.2 1 148533228T> A null E V 869 869 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782579318 1q21.2 1 148533225A> G null V A 870 870 missense 0.014 benign 0.26 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782579318 1q21.2 1 148533225A> T null V E 870 870 missense 0.018 benign 0.17 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782170655 1q21.2 1 148533226C> A null V L 870 870 missense 0.366 benign 0.08 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782170655 1q21.2 1 148533226C> T null V M 870 870 missense 0.895 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1445635920 1q21.2 1 148533223C> A null E * 871 871 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1195838552 1q21.2 1 148533222T> G null E A 871 871 missense 0.383 benign 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ESP,ExAC,gnomAD rs372816313 1q21.2 1 148533221T> A null E D 871 871 2.0E-4 missense 0.546 possibly damaging 0.08 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1445635920 1q21.2 1 148533223C> T null E K 871 871 missense 0.027 benign 0.37 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1445635920 1q21.2 1 148533223C> G null E Q 871 871 missense 0.569 possibly damaging 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1161090701 1q21.2 1 148533218C> A null E D 872 872 missense 0.046 benign 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331236 1q21.2 1 148533219T> C null E G 872 872 missense 0.012 benign 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147791792 1q21.2 1 148533220C> T null E K 872 872 9.98E-4 missense 0.647 possibly damaging 0.21 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331236 1q21.2 1 148533219T> A null E V 872 872 missense 0.854 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782642872 1q21.2 1 148533217G> A null R C 873 873 missense 0.589 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782642872 1q21.2 1 148533217G> C null R G 873 873 missense 0.038 benign 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782519833 1q21.2 1 148533216C> T null R H 873 873 missense 0.488 possibly damaging 0.17 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782519833 1q21.2 1 148533216C> A null R L 873 873 missense 0.056 benign 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782519833 1q21.2 1 148533216C> G null R P 873 873 missense 0.0 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1243685941 1q21.2 1 148533212T> G null E D 874 874 missense 0.283 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1381894433 1q21.2 1 148533213T> C null E G 874 874 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1318748198 1q21.2 1 148533214C> T null E K 874 874 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1381894433 1q21.2 1 148533213T> A null E V 874 874 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs200536655 1q21.2 1 148533211C> T null V I 875 875 missense 0.734 possibly damaging 0.14 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs781813550 1q21.2 1 148533207A> C null L * 876 876 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs1260335900 1q21.2 1 148533206T> A null L F 876 876 0.132 missense 0.976 probably damaging 0.14 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs1260335900 1q21.2 1 148533206T> G null L F 876 876 0.132 missense 0.976 probably damaging 0.14 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs781813550 1q21.2 1 148533207A> G null L S 876 876 missense 0.219 benign 0.47 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs587736107 1q21.2 1 148533205G> A null Q * 877 877 3.99E-4 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs587736107 1q21.2 1 148533205G> C null Q E 877 877 3.99E-4 missense 0.237 benign 0.16 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs781912679 1q21.2 1 148533203C> A null Q H 877 877 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs587736107 1q21.2 1 148533205G> T null Q K 877 877 3.99E-4 missense 0.561 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782152507 1q21.2 1 148533204T> A null Q L 877 877 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782152507 1q21.2 1 148533204T> C null Q R 877 877 missense 0.155 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1444681210 1q21.2 1 148533200G> T null D E 878 878 missense 0.327 benign 0.08 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1444681210 1q21.2 1 148533200G> C null D E 878 878 missense 0.327 benign 0.08 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331218 1q21.2 1 148533202C> T null D N 878 878 missense 0.951 probably damaging 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs139978252 1q21.2 1 148533201T> A null D V 878 878 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs781970001 1q21.2 1 148533198G> T null S * 879 879 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782210397 1q21.2 1 148533199A> T null S T 879 879 missense 0.997 probably damaging 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782377703 1q21.2 1 148533196G> C null L V 880 880 missense 0.646 possibly damaging 0.24 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,gnomAD rs587686084 1q21.2 1 148533192T> C null D G 881 881 2.0E-4 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782182521 1q21.2 1 148533193C> G null D H 881 881 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782182521 1q21.2 1 148533193C> T null D N 881 881 missense 0.99 probably damaging 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,gnomAD rs587686084 1q21.2 1 148533192T> A null D V 881 881 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,gnomAD rs1553273449 1q21.2 1 148533190T> C null R G 882 882 0.02296 missense 0.005 benign 0.2 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs1405098496 1q21.2 1 148533189C> A null R I 882 882 0.1773 missense 0.005 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs1405098496 1q21.2 1 148533189C> T null R K 882 882 0.1773 missense 0.131 benign 0.18 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs1405098496 1q21.2 1 148533189C> G null R T 882 882 0.1773 missense 0.131 benign 0.05 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs781819167 1q21.2 1 148533185A> T null C * 883 883 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782065382 1q21.2 1 148533186C> A null C F 883 883 missense 0.036 benign 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782690013 1q21.2 1 148533187A> C null C G 883 883 missense 0.011 benign 0.05 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782690013 1q21.2 1 148533187A> G null C R 883 883 missense 0.708 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs781819167 1q21.2 1 148533185A> C null C W 883 883 missense 0.879 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782065382 1q21.2 1 148533186C> T null C Y 883 883 missense 0.036 benign 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs142912722 1q21.2 1 148533183T> A null Y F 884 884 missense 0.946 probably damaging 0.14 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs587684667 1q21.2 1 148533180G> A null S L 885 885 0.001398 missense 0.043 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331210 1q21.2 1 148533177G> T null T N 886 886 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331212 1q21.2 1 148533178T> G null T P 886 886 missense 0.974 probably damaging 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331212 1q21.2 1 148533178T> A null T S 886 886 missense 0.942 probably damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs781924791 1q21.2 1 148533174G> A null P L 887 887 missense 0.808 possibly damaging 0.1 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs781924791 1q21.2 1 148533174G> T null P Q 887 887 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs587733282 1q21.2 1 148533175G> A null P S 887 887 2.0E-4 missense 0.219 benign 0.33 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs201202391 1q21.2 1 148533171G> C null S * 888 888 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs201202391 1q21.2 1 148533171G> A null S L 888 888 missense 0.281 benign 0.1 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782621846 1q21.2 1 148533172A> G null S P 888 888 missense 0.017 benign 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs781809359 1q21.2 1 148533167C> T null M I 889 889 missense 0.063 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs781809359 1q21.2 1 148533167C> A null M I 889 889 missense 0.063 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs200492467 1q21.2 1 148533169T> G null M L 889 889 0.01118 missense 0.006 benign 0.51 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs200492467 1q21.2 1 148533169T> C null M V 889 889 0.01118 missense 0.018 benign 0.99 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs371599058 1q21.2 1 148533164G> C null Y * 890 890 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs1178386893 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148533165T> A null Y F 890 890 0.01578 missense 0.624 possibly damaging 0.69 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782772355 1q21.2 1 148533162A> C null F C 891 891 missense 0.824 possibly damaging 0.18 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1289183823 1q21.2 1 148533158T> A null E D 892 892 missense 0.132 benign 0.51 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1393280808 1q21.2 1 148533160C> G null E Q 892 892 missense 0.32 benign 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs781906788 1q21.2 1 148533157G> T null L I 893 893 missense 0.868 possibly damaging 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331204 1q21.2 1 148533156A> T null L Q 893 893 missense 0.233 benign 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs781906788 1q21.2 1 148533157G> C null L V 893 893 missense 0.749 possibly damaging 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782121996 1q21.2 1 148533153G> C null P R 894 894 missense 0.353 benign 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,gnomAD rs138791836 1q21.2 1 148533154G> A null P S 894 894 0.008986 missense 0.245 benign 0.78 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,gnomAD rs138791836 1q21.2 1 148533154G> T null P T 894 894 0.008986 missense 0.155 benign 0.63 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1204456211 1q21.2 1 148533150T> G null D A 895 895 missense 0.091 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs1553273492 1q21.2 1 148533149G> C null D E 895 895 missense 0.774 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1204456211 1q21.2 1 148533150T> C null D G 895 895 missense 0.237 benign 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1204456211 1q21.2 1 148533150T> A null D V 895 895 missense 0.794 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782012767 1q21.2 1 148533151C> A null D Y 895 895 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1553331199 1q21.2 1 148533147G> T null S * 896 896 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1553331199 1q21.2 1 148533147G> C null S * 896 896 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1553331199 1q21.2 1 148533147G> A null S L 896 896 missense 0.017 benign 0.11 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1250182194 1q21.2 1 148533148A> G null S P 896 896 missense 0.844 possibly damaging 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1553331193 1q21.2 1 148533145A> T null F I 897 897 missense 0.191 benign 0.39 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782584786 1q21.2 1 148533143G> C null F L 897 897 missense 0.093 benign 0.65 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1553331193 1q21.2 1 148533145A> G null F L 897 897 missense 0.093 benign 0.65 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1553331193 1q21.2 1 148533145A> C null F V 897 897 missense 0.143 benign 0.5 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1205304524 1q21.2 1 148533142G> A null Q * 898 898 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331187 1q21.2 1 148533138T> A null H L 899 899 missense 0.244 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1479265032 1q21.2 1 148533139G> A null H Y 899 899 missense 0.502 possibly damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782343643 1q21.2 1 148533134G> C null Y * 900 900 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782343643 1q21.2 1 148533134G> T null Y * 900 900 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1425618558 1q21.2 1 148533135T> C null Y C 900 900 missense 0.088 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1201270476 1q21.2 1 148533136A> G null Y H 900 900 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147573398 1q21.2 1 148533133T> C null R G 901 901 0.003195 missense 0.005 benign 0.3 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331183 1q21.2 1 148533132C> A null R I 901 901 missense 0.708 possibly damaging 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs368136580 1q21.2 1 148533131T> A null R S 901 901 missense 0.02 benign 0.85 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs368136580 1q21.2 1 148533131T> G null R S 901 901 missense 0.02 benign 0.85 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs781887595 1q21.2 1 148533130T> C null S G 902 902 missense 0.941 probably damaging 0.13 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782685241 1q21.2 1 148533129C> A null S I 902 902 missense 0.896 possibly damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs781887595 1q21.2 1 148533130T> G null S R 902 902 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC rs587706043 1q21.2 1 148533126A> C null V G 903 903 2.0E-4 missense 0.093 benign 0.65 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 Ensembl rs1558345550 1q21.2 1 148533123A> C null F C 904 904 missense 0.944 probably damaging 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1365143331 1q21.2 1 148533122A> C null F L 904 904 missense 0.044 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1308733329 1q21.2 1 148533124A> C null F V 904 904 missense 0.026 benign 0.41 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331158 1q21.2 1 148533119G> C null Y * 905 905 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782736908 1q21.2 1 148533120T> A null Y F 905 905 missense 0.921 probably damaging 0.29 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1403341024 1q21.2 1 148533121A> G null Y H 905 905 missense 0.976 probably damaging 0.18 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs374222236 1q21.2 1 148533117G> C null S * 906 906 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs374222236 1q21.2 1 148533117G> A null S L 906 906 missense 0.29 benign 0.22 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,gnomAD rs587649005 1q21.2 1 148533114A> C null F C 907 907 2.0E-4 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1309835232 1q21.2 1 148533113A> C null F L 907 907 missense 0.014 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1294023226 1q21.2 1 148533115A> G null F L 907 907 missense 0.014 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782713229 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.2 1 148533112C> A null E * 908 908 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs142503262 1q21.2 1 148533111T> G null E A 908 908 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1290447255 1q21.2 1 148533110C> A null E D 908 908 missense 0.878 possibly damaging 0.27 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782713229 1q21.2 1 148533112C> T null E K 908 908 missense 0.279 benign 0.04 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782713229 1q21.2 1 148533112C> G null E Q 908 908 missense 0.888 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs142503262 1q21.2 1 148533111T> A null E V 908 908 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1489683968 1q21.2 1 148533109C> T null E K 909 909 missense 0.226 benign 0.08 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs201407717 1q21.2 1 148533106G> A null Q * 910 910 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 Ensembl rs1553331116 1q21.2 1 148533101_148533106delinsATGCT C null Q E 910 910 missense 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs201407717 1q21.2 1 148533106G> C null Q E 910 910 missense 0.003 benign 0.07 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331138 1q21.2 1 148533105T> A null Q L 910 910 missense 0.258 benign 0.0 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782418522 1q21.2 1 148533102T> A null H L 911 911 missense 0.013 benign 0.82 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782261284 1q21.2 1 148533103G> T null H N 911 911 missense 0.191 benign 0.31 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782418522 1q21.2 1 148533102T> G null H P 911 911 missense 0.584 possibly damaging 0.2 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782418522 1q21.2 1 148533102T> C null H R 911 911 missense 0.012 benign 0.42 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782261284 1q21.2 1 148533103G> A null H Y 911 911 missense 0.003 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782594851 1q21.2 1 148533100T> C null I V 912 912 missense 0.005 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs587746520 1q21.2 1 148533097T> A null S C 913 913 2.0E-4 missense 0.014 benign 0.17 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs587746520 1q21.2 1 148533097T> C null S G 913 913 2.0E-4 missense 0.003 benign 0.53 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes rs587717093 1q21.2 1 148533096C> T null S N 913 913 2.0E-4 missense 0.283 benign 0.28 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,gnomAD rs372067556 1q21.2 1 148533095G> C null S R 913 913 missense 0.429 benign 0.1 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1421505704 1q21.2 1 148533093A> G null F S 914 914 missense 0.69 possibly damaging 0.25 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201098010 1q21.2 1 148533091C> G null A P 915 915 9.98E-4 missense 0.935 probably damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201098010 1q21.2 1 148533091C> A null A S 915 915 9.98E-4 missense 0.107 benign 0.12 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201098010 1q21.2 1 148533091C> T null A T 915 915 9.98E-4 missense 0.112 benign 0.05 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs371516093 1q21.2 1 148533088G> A null L F 916 916 missense 0.27 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs371516093 1q21.2 1 148533088G> T null L I 916 916 missense 0.288 benign 0.03 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs371516093 1q21.2 1 148533088G> C null L V 916 916 missense 0.288 benign 0.09 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782163355 1q21.2 1 148533083G> T null Y * 917 917 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782163355 1q21.2 1 148533083G> C null Y * 917 917 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs376084487 1q21.2 1 148533085A> C null Y D 917 917 missense 0.005 benign 1.0 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782799246 1q21.2 1 148533084T> A null Y F 917 917 missense 0.625 possibly damaging 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs376084487 1q21.2 1 148533085A> G null Y H 917 917 missense 0.793 possibly damaging 0.01 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs376084487 1q21.2 1 148533085A> T null Y N 917 917 missense 0.216 benign 0.06 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs1364650425 1q21.2 1 148533082C> A null V L 918 918 missense 0.044 benign 0.02 deleterious 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs1364650425 1q21.2 1 148533082C> T null V M 918 918 missense 0.077 benign 0.28 tolerated 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1247625198 1q21.2 1 148533078T> G null D A 919 919 missense 0.25 benign 0.13 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs781971916 1q21.2 1 148533077G> T null D E 919 919 missense 0.025 benign 0.08 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs781971916 1q21.2 1 148533077G> C null D E 919 919 missense 0.025 benign 0.08 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1313668706 1q21.2 1 148533079C> G null D H 919 919 missense 0.904 possibly damaging 0.02 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1313668706 1q21.2 1 148533079C> T null D N 919 919 missense 0.496 possibly damaging 0.2 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1247625198 1q21.2 1 148533078T> A null D V 919 919 missense 0.758 possibly damaging 0.0 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1313668706 1q21.2 1 148533079C> A null D Y 919 919 missense 0.874 possibly damaging 0.01 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1243635388 1q21.2 1 148533074A> T null N K 920 920 missense 0.087 benign 0.11 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143743039 1q21.2 1 148533075T> C null N S 920 920 3.99E-4 missense 0.003 benign 0.55 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1290116146 1q21.2 1 148533076T> A null N Y 920 920 missense 0.665 possibly damaging 0.04 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782425018 1q21.2 1 148533072C> T null R K 921 921 missense 0.035 benign 0.24 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782425018 1q21.2 1 148533072C> A null R M 921 921 missense 0.454 possibly damaging 0.02 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370600823 1q21.2 1 148533071C> A null R S 921 921 2.0E-4 missense 0.007 benign 0.23 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782425018 1q21.2 1 148533072C> G null R T 921 921 missense 0.055 benign 0.09 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs374401554 1q21.2 1 148533073T> A null R W 921 921 missense 0.784 possibly damaging 0.01 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782592065 1q21.2 1 148533070A> T null F I 922 922 missense 0.078 benign 0.03 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782592065 1q21.2 1 148533070A> G null F L 922 922 missense 0.049 benign 0.05 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1165125177 1q21.2 1 148533066A> G null F S 923 923 missense 0.219 benign 0.17 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1157293887 1q21.2 1 148533063G> A null T I 924 924 missense 0.493 possibly damaging 0.0 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1157293887 1q21.2 1 148533063G> T null T N 924 924 missense 0.179 benign 0.01 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1157293887 1q21.2 1 148533063G> C null T S 924 924 missense 0.011 benign 0.27 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 Ensembl rs1558345290 1q21.2 1 148533064T> A null T S 924 924 missense 0.011 benign 0.27 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs1458152649 1q21.2 1 148533057G> A null T M 926 926 missense 0.037 benign 0.15 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs1458152649 1q21.2 1 148533057G> C null T R 926 926 missense 0.125 benign 0.08 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1381281672 1q21.2 1 148533055C> A null V L 927 927 missense 0.02 benign 0.07 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1381281672 1q21.2 1 148533055C> T null V M 927 927 missense 0.75 possibly damaging 0.13 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782706997 1q21.2 1 148533051G> C null T R 928 928 missense 0.168 benign 0.03 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331075 1q21.2 1 148533052T> A null T S 928 928 missense 0.087 benign 0.06 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782064564 1q21.2 1 148533049T> A null S C 929 929 missense 0.727 possibly damaging 0.02 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782064564 1q21.2 1 148533049T> C null S G 929 929 missense 0.001 benign 0.19 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782745723 1q21.2 1 148533048C> A null S I 929 929 missense 0.087 benign 0.07 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782745723 1q21.2 1 148533048C> T null S N 929 929 missense 0.155 benign 0.22 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782064564 1q21.2 1 148533049T> G null S R 929 929 missense 0.001 benign 0.91 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782007659 1q21.2 1 148533045A> T null L H 930 930 missense 0.018 benign 0.05 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ESP,ExAC,gnomAD rs148079257 1q21.2 1 148533046G> C null L V 930 930 7.99E-4 missense 0.078 benign 0.05 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed rs1285981006 1q21.2 1 148533042T> G null H P 931 931 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs1043762 1q21.2 1 148533041G> C null H Q 931 931 missense 0.444 benign 0.0 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs1043762 1q21.2 1 148533041G> T null H Q 931 931 missense 0.444 benign 0.0 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs1043761 1q21.2 1 148533043G> A null H Y 931 931 missense 0.364 benign 0.0 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,gnomAD rs587730135 1q21.2 1 148533040G> C null L V 932 932 2.0E-4 missense 0.962 probably damaging 0.03 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782381329 1q21.2 1 148533036A> T null V E 933 933 missense 0.297 benign 0.09 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1462616361 1q21.2 1 148533037C> A null V L 933 933 missense 0.081 benign 0.09 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1462616361 1q21.2 1 148533037C> G null V L 933 933 missense 0.081 benign 0.09 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1462616361 1q21.2 1 148533037C> T null V M 933 933 missense 0.75 possibly damaging 0.04 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782443207 1q21.2 1 148533034A> G null F L 934 934 missense 0.001 benign 0.16 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,gnomAD rs138875397 1q21.2 1 148533033A> G null F S 934 934 missense 0.058 benign 0.05 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782600210 1q21.2 1 148533031G> A null Q * 935 935 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed rs374114281 1q21.2 1 148533029C> A null Q H 935 935 missense 0.043 benign 0.01 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331046 1q21.2 1 148533030T> A null Q L 935 935 missense 0.118 benign 0.01 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs781858978 1q21.2 1 148533026C> G null M I 936 936 missense 0.003 benign 0.1 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs781858978 1q21.2 1 148533026C> A null M I 936 936 missense 0.003 benign 0.1 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs781858978 1q21.2 1 148533026C> T null M I 936 936 missense 0.003 benign 0.1 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1176186770 1q21.2 1 148533028T> A null M L 936 936 missense 0.013 benign 0.26 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1176186770 1q21.2 1 148533028T> C null M V 936 936 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs1404488923 1q21.2 1 148533025C> A null G * 937 937 0.08007 stop gained 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs1416655962 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 148533024C> T null G E 937 937 0.08007 missense 0.006 benign 1.0 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs1404488923 1q21.2 1 148533025C> T null G R 937 937 0.08007 missense 0.018 benign 0.72 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 1000Genomes,ExAC,TOPMed,gnomAD rs1416655962 1q21.2 1 148533024C> A null G V 937 937 0.08007 missense 0.055 benign 0.22 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 gnomAD rs1553331038 1q21.2 1 148533021A> T null V D 938 938 missense 0.888 possibly damaging 0.0 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1289797779 1q21.2 1 148533022C> A null V F 938 938 missense 0.72 possibly damaging 0.0 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1289797779 1q21.2 1 148533022C> T null V I 938 938 missense 0.029 benign 0.29 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,gnomAD rs142102574 1q21.2 1 148533019T> G null I L 939 939 missense 0.339 benign 0.25 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782437890 1q21.2 1 148533012G> C null P R 941 941 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs137991261 1q21.2 1 148533013G> A null P S 941 941 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs137991261 1q21.2 1 148533013G> T null P T 941 941 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1200977672 1q21.2 1 148533010G> C null Q E 942 942 missense 0.023 benign 0.16 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs782586674 1q21.2 1 148533008T> G null Q H 942 942 missense 0.001 benign 0.84 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 TOPMed,gnomAD rs1200977672 1q21.2 1 148533010G> T null Q K 942 942 missense 0.048 benign 0.26 tolerated - low confidence 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,gnomAD rs782347492 1q21.2 1 148533007A> C null * E 943 943 stop lost 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ESP,ExAC,TOPMed,gnomAD rs369436944 1q21.2 1 148533006T> A null * L 943 943 stop lost 0 A0A075B757 NBPF14 Neuroblastoma breakpoint family member 14 ExAC,TOPMed,gnomAD rs1202575195 1q21.2 1 148533005T> A null * Y 943 943 stop lost 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E Ensembl rs1553532071 1q21.1 1 144373569C> T null V I 6 6 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,TOPMed,gnomAD rs782209604 1q21.1 1 144373558T> G null E D 9 9 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532064 1q21.1 1 144373551T> C null R G 12 12 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532063 1q21.1 1 144373550C> A null R M 12 12 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E Ensembl rs1553532062 1q21.1 1 144373549C> G null R S 12 12 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532058 1q21.1 1 144373545C> T null G S 14 14 missense 0.015 benign 0.15 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E Ensembl rs1553532057 1q21.1 1 144373541T> G null K T 15 15 missense 0.287 benign 0.04 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532055 1q21.1 1 144373523G> T null S Y 21 21 missense 0.651 possibly damaging 0.12 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532053 1q21.1 1 144373514A> T null L Q 24 24 missense 0.908 possibly damaging 0.0 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E Ensembl rs1553532052 1q21.1 1 144373497G> A null P S 30 30 missense 0.537 possibly damaging 0.04 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532050 1q21.1 1 144373475C> T null R H 37 37 missense 0.003 benign 0.49 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532049 1q21.1 1 144373467T> A null S C 40 40 missense 0.757 possibly damaging 0.43 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs201657622 1q21.1 1 144373466C> T null S N 40 40 missense 0.04 benign 0.07 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532045 1q21.1 1 144373461C> T null G R 42 42 missense 0.116 benign 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532042 1q21.1 1 144373446G> A null R C 47 47 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532041 1q21.1 1 144373445C> T null R H 47 47 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532038 1q21.1 1 144373415A> G null I T 57 57 missense 0.737 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532037 1q21.1 1 144373395C> T null G S 64 64 missense 0.782 possibly damaging 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532035 1q21.1 1 144373387G> C null D E 66 66 missense 0.88 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532032 1q21.1 1 144373380G> A null R C 69 69 missense 0.001 benign 0.49 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532032 1q21.1 1 144373380G> C null R G 69 69 missense 0.007 benign 0.27 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs199506097 1q21.1 1 144373379C> T null R H 69 69 missense 0.001 benign 0.61 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532030 1q21.1 1 144373376G> T null P H 70 70 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532030 1q21.1 1 144373376G> A null P L 70 70 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E Ensembl rs1558575278 1q21.1 1 144373373T> C null N S 71 71 missense 0.029 benign 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs1701408 1q21.1 1 144373364C> G null G A 74 74 missense 0.765 possibly damaging 0.0 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs1701408 1q21.1 1 144373364C> T null G D 74 74 missense 0.369 benign 0.03 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532028 1q21.1 1 144373365C> T null G S 74 74 missense 0.52 possibly damaging 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532022 1q21.1 1 144373342C> A null E D 81 81 missense 0.081 benign 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532017 1q21.1 1 144373322A> G null L P 88 88 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E Ensembl rs1553532015 1q21.1 1 144373317G> A null R * 90 90 stop gained 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532014 1q21.1 1 144373316C> T null R Q 90 90 missense 0.158 benign 0.0 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E TOPMed,gnomAD rs1553532010 1q21.1 1 144373309A> T null H Q 92 92 missense 0.872 possibly damaging 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532012 1q21.1 1 144373311G> A null H Y 92 92 missense 0.988 probably damaging 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532009 1q21.1 1 144373305C> G null G R 94 94 missense 0.719 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532008 1q21.1 1 144373298C> T null G D 96 96 missense 0.956 probably damaging 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E TOPMed,gnomAD rs1553532005 1q21.1 1 144373291C> A null L F 98 98 missense 0.572 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532003 1q21.1 1 144373284C> T null A T 101 101 missense 0.169 benign 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532002 1q21.1 1 144373283G> A null A V 101 101 missense 0.055 benign 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553532000 1q21.1 1 144373277G> A null A V 103 103 missense 0.374 benign 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531998 1q21.1 1 144373271G> C null P R 105 105 missense 0.397 benign 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531999 1q21.1 1 144373272G> A null P S 105 105 missense 0.23 benign 0.03 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531999 1q21.1 1 144373272G> T null P T 105 105 missense 0.831 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E TOPMed,gnomAD rs1553531988 1q21.1 1 144373267G> T null N K 106 106 missense 0.522 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531987 1q21.1 1 144373265G> T null T K 107 107 missense 0.837 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E 1000Genomes,ExAC,gnomAD rs594576 1q21.1 1 144373262T> C null N S 108 108 0.2013 missense 0.393 benign 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531980 1q21.1 1 144373260C> A null G C 109 109 missense 0.139 benign 0.03 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs781976260 1q21.1 1 144373259C> T null G D 109 109 missense 0.139 benign 0.04 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs781976260 1q21.1 1 144373259C> A null G V 109 109 missense 0.313 benign 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531978 1q21.1 1 144373254G> A null Q * 111 111 stop gained 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531977 1q21.1 1 144373252C> A null Q H 111 111 missense 0.232 benign 0.03 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E Ensembl rs1558575213 1q21.1 1 144373253T> G null Q P 111 111 missense 0.987 probably damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531975 1q21.1 1 144373246G> T null F L 113 113 missense 0.061 benign 0.04 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531970 1q21.1 1 144373239C> T null A T 116 116 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531967 1q21.1 1 144373238G> A null A V 116 116 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs782123165 1q21.1 1 144373235G> T null A D 117 117 missense 0.217 benign 0.03 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531965 1q21.1 1 144373236C> T null A T 117 117 missense 0.797 possibly damaging 0.18 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531963 1q21.1 1 144373232T> C null K R 118 118 missense 0.705 possibly damaging 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs781969164 1q21.1 1 144373230T> C null T A 119 119 missense 0.012 benign 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531959 1q21.1 1 144373225C> G null E D 120 120 missense 0.405 benign 0.09 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531961 1q21.1 1 144373226T> C null E G 120 120 missense 0.204 benign 0.03 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531962 1q21.1 1 144373227C> G null E Q 120 120 missense 0.166 benign 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531953 1q21.1 1 144373219C> A null L F 122 122 missense 0.72 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs782711633 1q21.1 1 144373218C> G null D H 123 123 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs782711633 1q21.1 1 144373218C> T null D N 123 123 missense 0.359 benign 0.03 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531952 1q21.1 1 144373214C> A null G V 124 124 missense 0.662 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs782766490 1q21.1 1 144373208T> G null H P 126 126 missense 0.207 benign 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs782766490 1q21.1 1 144373208T> C null H R 126 126 missense 0.365 benign 0.03 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs782170311 1q21.1 1 144373209G> A null H Y 126 126 missense 0.099 benign 0.03 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531950 1q21.1 1 144373203C> T null A T 128 128 missense 0.149 benign 0.0 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E 1000Genomes,ExAC,TOPMed,gnomAD rs587620787 1q21.1 1 144373202G> A null A V 128 128 9.98E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531948 1q21.1 1 144373196C> A null G V 130 130 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs781795899 1q21.1 1 144373190A> G null V A 132 132 missense 0.275 benign 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531946 1q21.1 1 144373191C> T null V M 132 132 missense 0.47 possibly damaging 0.06 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531945 1q21.1 1 144373188T> C null K E 133 133 missense 0.155 benign 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531944 1q21.1 1 144373187T> G null K T 133 133 missense 0.955 probably damaging 0.07 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs782452843 1q21.1 1 144373182G> A null R C 135 135 missense 0.498 possibly damaging 0.0 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs782673257 1q21.1 1 144373181C> T null R H 135 135 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs782673257 1q21.1 1 144373181C> G null R P 135 135 missense 0.192 benign 0.0 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531941 1q21.1 1 144373179C> G null V L 136 136 missense 0.005 benign 0.1 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531941 1q21.1 1 144373179C> T null V M 136 136 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E ExAC,gnomAD rs782241422 1q21.1 1 144373174A> T null N K 137 137 missense 0.106 benign 0.11 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E TOPMed,gnomAD rs1553531938 1q21.1 1 144373170C> G null V L 139 139 missense 0.44 benign 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E TOPMed,gnomAD rs1553531938 1q21.1 1 144373170C> A null V L 139 139 missense 0.44 benign 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E 1000Genomes,ExAC,gnomAD rs587664555 1q21.1 1 144373159C> T null M I 142 142 9.98E-4 missense 0.051 benign 0.19 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs374063587 1q21.1 1 144373160A> C null M R 142 142 missense 0.715 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs374063587 1q21.1 1 144373160A> G null M T 142 142 missense 0.166 benign 0.06 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531935 1q21.1 1 144373152A> G null F L 145 145 missense 0.06 benign 0.13 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531933 1q21.1 1 144373149C> A null G W 146 146 missense 0.597 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531932 1q21.1 1 144373145T> C null Y C 147 147 missense 0.605 possibly damaging 0.0 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531930 1q21.1 1 144373125T> C null K E 154 154 missense 0.155 benign 0.02 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531928 1q21.1 1 144373118A> T null I N 156 156 missense 0.784 possibly damaging 0.01 deleterious - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E TOPMed,gnomAD rs1553531925 1q21.1 1 144373110C> T null A T 159 159 missense 0.641 possibly damaging 0.15 tolerated - low confidence 0 A0A075B759 PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E gnomAD rs1553531924 1q21.1 1 144373096T> A null Q H 163 163 missense 0.157 benign 0.02 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781809949 1q21.1 1 146144765A> T null V E 2 2 missense 0.01 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798903 1q21.1 1 146144766C> T null V M 2 2 missense 0.06 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782451888 1q21.1 1 146144763C> T null V I 3 3 missense 0.01 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782451888 1q21.1 1 146144763C> A null V L 3 3 missense 0.015 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782383489 1q21.1 1 146144756G> T null A D 5 5 missense 0.25 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782210545 1q21.1 1 146144757C> G null A P 5 5 missense 0.546 possibly damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782210545 1q21.1 1 146144757C> T null A T 5 5 missense 0.135 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782293679 1q21.1 1 146144754C> A null G C 6 6 missense 0.674 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798893 1q21.1 1 146144753C> T null G D 6 6 missense 0.104 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782293679 1q21.1 1 146144754C> G null G R 6 6 missense 0.408 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782293679 1q21.1 1 146144754C> T null G S 6 6 missense 0.006 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798893 1q21.1 1 146144753C> A null G V 6 6 missense 0.071 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798891 1q21.1 1 146144751G> C null P A 7 7 missense 0.015 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs7366490 1q21.1 1 146144750G> T null P H 7 7 missense 0.353 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs7366490 1q21.1 1 146144750G> C null P R 7 7 missense 0.18 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs199928078 1q21.1 1 146144747C> T null W * 8 8 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782815957 1q21.1 1 146144746C> T null W * 8 8 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782815957 1q21.1 1 146144746C> G null W C 8 8 missense 0.0 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs199928078 1q21.1 1 146144747C> A null W L 8 8 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798888 1q21.1 1 146144748A> G null W R 8 8 missense 0.0 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs199928078 1q21.1 1 146144747C> G null W S 8 8 missense 0.0 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781896875 1q21.1 1 146144745A> C null S A 9 9 missense 0.467 possibly damaging 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1225471316 1q21.1 1 146144744G> C null S C 9 9 missense 0.938 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782071274 1q21.1 1 146144741C> A null S I 10 10 missense 0.25 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782071274 1q21.1 1 146144741C> T null S N 10 10 missense 0.096 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs60398273 1q21.1 1 146144740A> C null S R 10 10 missense 0.25 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782071274 1q21.1 1 146144741C> G null S T 10 10 missense 0.135 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798880 1q21.1 1 146144738T> G null E A 11 11 missense 0.06 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798879 1q21.1 1 146144737C> A null E D 11 11 missense 0.094 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782465205 1q21.1 1 146144739C> T null E K 11 11 missense 0.094 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798877 1q21.1 1 146144736T> G null K Q 12 12 missense 0.013 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782562089 1q21.1 1 146144732G> T null A E 13 13 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781852873 1q21.1 1 146144733C> T null A T 13 13 missense 0.908 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782195511 1q21.1 1 146144728C> G null E D 14 14 missense 0.801 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798874 1q21.1 1 146144730C> T null E K 14 14 missense 0.801 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798873 1q21.1 1 146144725C> A null M I 15 15 missense 0.001 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798873 1q21.1 1 146144725C> G null M I 15 15 missense 0.001 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782307971 1q21.1 1 146144727T> A null M L 15 15 missense 0.0 benign 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782610810 1q21.1 1 146144726A> C null M R 15 15 missense 0.06 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782610810 1q21.1 1 146144726A> G null M T 15 15 missense 0.038 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782307971 1q21.1 1 146144727T> C null M V 15 15 missense 0.003 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782202698 1q21.1 1 146144724T> C null N D 16 16 missense 0.094 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782040999 1q21.1 1 146144722G> T null N K 16 16 missense 0.094 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782377084 1q21.1 1 146144723T> C null N S 16 16 missense 0.003 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782150262 1q21.1 1 146144720A> T null I N 17 17 missense 0.354 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782150262 1q21.1 1 146144720A> C null I S 17 17 missense 0.192 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798868 1q21.1 1 146144721T> C null I V 17 17 missense 0.018 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781924275 1q21.1 1 146144718G> T null L I 18 18 missense 0.801 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781924275 1q21.1 1 146144718G> C null L V 18 18 missense 0.801 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798867 1q21.1 1 146144713T> A null E D 19 19 missense 0.801 possibly damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782102489 1q21.1 1 146144712T> G null I L 20 20 missense 0.274 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782102489 1q21.1 1 146144712T> C null I V 20 20 missense 0.274 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782111262 1q21.1 1 146144707G> T null N K 21 21 missense 0.919 probably damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782111262 1q21.1 1 146144707G> C null N K 21 21 missense 0.919 probably damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781869288 1q21.1 1 146144708T> C null N S 21 21 missense 0.801 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782693179 1q21.1 1 146144704C> A null E D 22 22 missense 0.007 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs6671324 1q21.1 1 146144706C> T null E K 22 22 missense 0.003 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs6671324 1q21.1 1 146144706C> G null E Q 22 22 missense 0.0 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs57489144 1q21.1 1 146144702G> A null T I 23 23 missense 0.0 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs57489144 1q21.1 1 146144702G> T null T K 23 23 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1367835997 1q21.1 1 146144698C> A null L F 24 24 missense 0.934 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798855 1q21.1 1 146144699A> G null L S 24 24 missense 0.934 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798855 1q21.1 1 146144699A> C null L W 24 24 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782651106 1q21.1 1 146144697G> A null R C 25 25 missense 0.632 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782296759 1q21.1 1 146144696C> T null R H 25 25 missense 0.561 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782179787 1q21.1 1 146144693G> A null P L 26 26 missense 0.0 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782580740 1q21.1 1 146144694G> A null P S 26 26 missense 0.0 benign 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782373953 1q21.1 1 146144689C> A null Q H 27 27 missense 0.001 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782264393 1q21.1 1 146144690T> G null Q P 27 27 missense 0.094 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs75582697 1q21.1 1 146144688G> T null L M 28 28 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs6671335 1q21.1 1 146144685C> G null A P 29 29 missense 0.455 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs6671335 1q21.1 1 146144685C> T null A T 29 29 missense 0.139 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781863851 1q21.1 1 146144681T> C null E G 30 30 missense 0.096 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782723621 1q21.1 1 146144682C> G null E Q 30 30 missense 0.135 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs4409714 1q21.1 1 146144677C> G null K N 31 31 missense 0.0 benign 0.78 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782561313 1q21.1 1 146144678T> C null K R 31 31 missense 0.001 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782561313 1q21.1 1 146144678T> G null K T 31 31 missense 0.0 benign 0.87 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798850 1q21.1 1 146144676T> C null K E 32 32 missense 0.096 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798847 1q21.1 1 146144675T> C null K R 32 32 missense 0.135 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782437162 1q21.1 1 146144673G> A null Q * 33 33 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782629303 1q21.1 1 146144669T> A null Q L 34 34 missense 0.094 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs4356110 1q21.1 1 146144665G> C null F L 35 35 missense 0.682 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798836 1q21.1 1 146144666A> T null F Y 35 35 missense 0.682 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798835 1q21.1 1 146144664T> C null R G 36 36 missense 0.094 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798834 1q21.1 1 146144663C> A null R I 36 36 missense 0.096 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798834 1q21.1 1 146144663C> G null R T 36 36 missense 0.094 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782634924 1q21.1 1 146144661T> C null S G 37 37 missense 0.0 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs12565078 1q21.1 1 146144660C> T null S N 37 37 missense 0.001 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782413849 1q21.1 1 146144659G> T null S R 37 37 missense 0.027 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781931886 1q21.1 1 146144658G> A null L F 38 38 missense 0.934 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798826 1q21.1 1 146144655T> C null K E 39 39 missense 0.135 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782350137 1q21.1 1 146144651T> G null E A 40 40 missense 0.801 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781947696 1q21.1 1 146144650C> G null E D 40 40 missense 0.801 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782128254 1q21.1 1 146144649T> C null K E 41 41 missense 0.801 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782027903 1q21.1 1 146144647T> G null K N 41 41 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587603994 1q21.1 1 146144648T> C null K R 41 41 2.0E-4 missense 0.801 possibly damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782072450 1q21.1 1 146144642A> G null F S 43 43 missense 0.0 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782072450 1q21.1 1 146144642A> T null F Y 43 43 missense 0.001 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs55936365 1q21.1 1 146144640G> C null L V 44 44 missense 0.003 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798809 1q21.1 1 146144636G> A null T I 45 45 missense 0.0 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798809 1q21.1 1 146144636G> T null T N 45 45 missense 0.001 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798804 1q21.1 1 146144632T> A null Q H 46 46 missense 0.387 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798804 1q21.1 1 146144632T> G null Q H 46 46 missense 0.387 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781860237 1q21.1 1 146144633T> G null Q P 46 46 missense 0.293 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798801 1q21.1 1 146144630A> G null L P 47 47 missense 0.06 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782551114 1q21.1 1 146144628C> A null A S 48 48 missense 0.096 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782551114 1q21.1 1 146144628C> T null A T 48 48 missense 0.071 benign 0.53 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798797 1q21.1 1 146144624C> G null G A 49 49 missense 0.899 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798797 1q21.1 1 146144624C> T null G D 49 49 missense 0.969 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782429157 1q21.1 1 146144625C> T null G S 49 49 missense 0.935 probably damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782627572 1q21.1 1 146144620G> C null F L 50 50 missense 0.0 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782386728 1q21.1 1 146144621A> G null F S 50 50 missense 0.135 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798795 1q21.1 1 146144618A> C null L R 51 51 missense 0.184 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782287486 1q21.1 1 146144619G> C null L V 51 51 missense 0.033 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781925453 1q21.1 1 146144616C> T null A T 52 52 missense 0.104 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782107818 1q21.1 1 146144615G> A null A V 52 52 missense 0.009 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798786 1q21.1 1 146144613T> C null N D 53 53 missense 0.0 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782004940 1q21.1 1 146144611G> C null N K 53 53 missense 0.071 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782004940 1q21.1 1 146144611G> T null N K 53 53 missense 0.071 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798784 1q21.1 1 146144612T> C null N S 53 53 missense 0.045 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782818714 1q21.1 1 146144610G> A null R * 54 54 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782818714 1q21.1 1 146144610G> C null R G 54 54 missense 0.161 benign 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs7526045 1q21.1 1 146144609C> G null R P 54 54 missense 0.227 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs7526045 1q21.1 1 146144609C> T null R Q 54 54 missense 0.069 benign 0.96 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782477373 1q21.1 1 146144606T> C null Q R 55 55 missense 0.065 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782634421 1q21.1 1 146144604T> C null K E 56 56 missense 0.0 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781848566 1q21.1 1 146144602C> G null K N 56 56 missense 0.096 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782592573 1q21.1 1 146144599T> A null K N 57 57 missense 0.192 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782535546 1q21.1 1 146144600T> G null K T 57 57 missense 0.096 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553798774 1q21.1 1 146144597T> C null Y C 58 58 missense 0.709 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553798776 1q21.1 1 146144598A> G null Y H 58 58 missense 0.25 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782189178 1q21.1 1 146144595T> C null K E 59 59 missense 0.486 possibly damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797943 1q21.1 1 146142752T> A null K M 59 59 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782795509 1q21.1 1 146142751C> G null K N 59 59 missense 0.607 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797941 1q21.1 1 146142748A> T null Y * 60 60 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587646155 1q21.1 1 146142749T> C null Y C 60 60 3.99E-4 missense 0.0 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs267597994 1q21.1 1 146142750A> C null Y D 60 60 missense 0.0 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs267597994 1q21.1 1 146142750A> G null Y H 60 60 missense 0.009 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587720039 1q21.1 1 146142747C> T null E K 61 61 2.0E-4 missense 0.006 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs201644017 1q21.1 1 146142739A> C null C W 63 63 0.002396 missense 0.524 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797934 1q21.1 1 146142740C> T null C Y 63 63 missense 0.003 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797929 1q21.1 1 146142733G> T null D E 65 65 missense 0.866 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782288946 1q21.1 1 146142732G> T null L I 66 66 missense 0.01 benign 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797921 1q21.1 1 146142727T> C null I M 67 67 missense 0.354 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797927 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146142729T> C null I V 67 67 missense 0.003 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782399451 1q21.1 1 146142725T> G null K T 68 68 missense 0.094 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781924756 1q21.1 1 146142722A> C null F C 69 69 missense 0.001 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797917 1q21.1 1 146142723A> G null F L 69 69 missense 0.0 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1553797915 1q21.1 1 146142720T> G null M L 70 70 missense 0.0 benign 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797914 1q21.1 1 146142717G> T null L M 71 71 missense 0.934 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782346633 1q21.1 1 146142713C> T null R K 72 72 missense 0.0 benign 0.96 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782004533 1q21.1 1 146142709A> T null N K 73 73 missense 0.0 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1375029521 1q21.1 1 146142710T> C null N S 73 73 missense 0.0 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782424097 1q21.1 1 146142705G> A null R * 75 75 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782424097 1q21.1 1 146142705G> C null R G 75 75 missense 0.858 possibly damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782070303 1q21.1 1 146142704C> T null R Q 75 75 missense 0.776 possibly damaging 0.45 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1234700249 1q21.1 1 146142701T> G null Q P 76 76 missense 0.094 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1234700249 1q21.1 1 146142701T> C null Q R 76 76 missense 0.048 benign 0.78 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797906 1q21.1 1 146142699A> G null F L 77 77 missense 0.0 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782787487 1q21.1 1 146142691C> G null E D 79 79 missense 0.0 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587725638 1q21.1 1 146142692T> A null E V 79 79 3.99E-4 missense 0.192 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797902 1q21.1 1 146142681C> T null A T 83 83 missense 0.096 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782663420 1q21.1 1 146142678C> T null E K 84 84 missense 0.801 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782663420 1q21.1 1 146142678C> G null E Q 84 84 missense 0.859 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1485224099 1q21.1 1 146142672G> C null L V 86 86 missense 0.135 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782601943 1q21.1 1 146142668T> C null K R 87 87 missense 0.038 benign 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782265105 1q21.1 1 146142666G> A null Q * 88 88 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782265105 1q21.1 1 146142666G> T null Q K 88 88 missense 0.03 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1433075366 1q21.1 1 146142662G> T null A D 89 89 missense 0.197 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782690658 1q21.1 1 146142663C> G null A P 89 89 missense 0.412 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 NCI-TCGA rs370974831 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146142660C> G null E Q 90 90 missense 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782331974 1q21.1 1 146142655C> G null E D 91 91 missense 0.003 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs75821470 1q21.1 1 146142654G> A null L F 92 92 missense 0.266 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs75821470 1q21.1 1 146142654G> C null L V 92 92 missense 0.094 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553797878 1q21.1 1 146142650C> T null R K 93 93 missense 0.06 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553797878 1q21.1 1 146142650C> A null R M 93 93 missense 0.353 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587642386 1q21.1 1 146141818C> A null R S 93 93 2.0E-4 missense 0.065 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797882 1q21.1 1 146142651T> A null R W 93 93 missense 0.617 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782710861 1q21.1 1 146141817G> A null Q * 94 94 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782710861 1q21.1 1 146141817G> T null Q K 94 94 missense 0.026 benign 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797456 1q21.1 1 146141813T> C null Y C 95 95 missense 0.0 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782079046 1q21.1 1 146141811T> C null K E 96 96 missense 0.02 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782774934 1q21.1 1 146141809T> G null K N 96 96 missense 0.065 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781853467 1q21.1 1 146141808C> G null V L 97 97 missense 0.015 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782547305 1q21.1 1 146141805G> C null L V 98 98 missense 0.494 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1352846512 1q21.1 1 146141801A> G null V A 99 99 missense 0.087 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs3969711 1q21.1 1 146141802C> A null V F 99 99 missense 0.25 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782615314 1q21.1 1 146141797G> C null H Q 100 100 missense 0.136 benign 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782426772 1q21.1 1 146141799G> A null H Y 100 100 missense 0.001 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587724347 1q21.1 1 146141796A> C null S A 101 101 3.99E-4 missense 0.467 possibly damaging 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587603247 1q21.1 1 146141787G> A null R * 104 104 3.99E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587603247 1q21.1 1 146141787G> C null R G 104 104 3.99E-4 missense 0.054 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782327738 1q21.1 1 146141786C> A null R L 104 104 missense 0.115 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782327738 1q21.1 1 146141786C> T null R Q 104 104 missense 0.069 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782229212 1q21.1 1 146141784C> A null E * 105 105 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797433 1q21.1 1 146141782C> G null E D 105 105 missense 0.087 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782229212 1q21.1 1 146141784C> T null E K 105 105 missense 0.135 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782336253 1q21.1 1 146141777G> T null T N 107 107 missense 0.136 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782336253 1q21.1 1 146141777G> C null T S 107 107 missense 0.094 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587679565 1q21.1 1 146141775G> A null Q * 108 108 5.99E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs4996269 1q21.1 1 146141772G> C null L V 109 109 missense 0.801 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782695102 1q21.1 1 146141769T> C null R G 110 110 missense 0.133 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781832394 1q21.1 1 146141768C> T null R K 110 110 missense 0.059 benign 0.95 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781832394 1q21.1 1 146141768C> A null R M 110 110 missense 0.542 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782758254 1q21.1 1 146141766C> A null E * 111 111 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782758254 1q21.1 1 146141766C> T null E K 111 111 missense 0.007 benign 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797430 1q21.1 1 146141762T> A null K M 112 112 missense 0.452 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782586305 1q21.1 1 146141757G> C null R G 114 114 missense 0.225 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781792217 1q21.1 1 146141756C> T null R Q 114 114 missense 0.005 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782586305 1q21.1 1 146141757G> A null R W 114 114 missense 0.722 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797429 1q21.1 1 146141754C> A null E * 115 115 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs186121989 1q21.1 1 146141751C> G null G R 116 116 0.003594 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782253301 1q21.1 1 146141750C> A null G V 116 116 missense 0.988 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs186121989 1q21.1 1 146141751C> A null G W 116 116 0.003594 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797426 1q21.1 1 146141748T> C null R G 117 117 missense 0.094 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782376186 1q21.1 1 146141747C> T null R K 117 117 missense 0.003 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1386430330 1q21.1 1 146141743A> C null D E 118 118 missense 0.866 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797425 1q21.1 1 146141744T> A null D V 118 118 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782670839 1q21.1 1 146141745C> A null D Y 118 118 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1337634846 1q21.1 1 146141741G> T null A D 119 119 missense 0.003 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782274920 1q21.1 1 146141742C> A null A S 119 119 missense 0.096 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782274920 1q21.1 1 146141742C> T null A T 119 119 missense 0.135 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781915352 1q21.1 1 146141738G> C null S C 120 120 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781915352 1q21.1 1 146141738G> A null S F 120 120 missense 0.042 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587663535 1q21.1 1 146141736G> A null R C 121 121 0.001198 missense 0.007 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 NCI-TCGA rs782164548 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146141735C> T null R H 121 121 missense 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781992398 1q21.1 1 146141735C> T null R H 121 121 missense 0.003 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781992398 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146141735C> A null R L 121 121 missense 0.0 benign 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781992398 1q21.1 1 146141735C> G null R P 121 121 missense 0.001 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782054647 1q21.1 1 146141732G> C null S * 122 122 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782054647 1q21.1 1 146141732G> T null S * 122 122 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782054647 1q21.1 1 146141732G> A null S L 122 122 missense 0.0 benign 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1234978676 1q21.1 1 146141729A> T null L * 123 123 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1553797419 1q21.1 1 146141728C> A null L F 123 123 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781829666 1q21.1 1 146141726T> C null Y C 124 124 missense 0.014 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs4996268 1q21.1 1 146141727A> T null Y N 124 124 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs140256918 1q21.1 1 146141724C> G null E Q 125 125 0.002995 missense 0.014 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797408 1q21.1 1 146141721G> T null H N 126 126 missense 0.607 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782528212 1q21.1 1 146141720T> G null H P 126 126 missense 0.844 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782587649 1q21.1 1 146141718G> A null L F 127 127 missense 0.934 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 NCI-TCGA rs587682166 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146141718G> T null L I 127 127 missense 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782587649 1q21.1 1 146141718G> T null L I 127 127 missense 0.801 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797406 1q21.1 1 146141713C> A null Q H 128 128 missense 0.006 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797406 1q21.1 1 146141713C> G null Q H 128 128 missense 0.006 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797405 1q21.1 1 146141712C> T null A T 129 129 missense 0.135 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782252276 1q21.1 1 146141700G> C null P A 133 133 missense 0.728 possibly damaging 0.45 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782439469 1q21.1 1 146141699G> A null P L 133 133 missense 0.859 possibly damaging 0.96 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782252276 1q21.1 1 146141700G> A null P S 133 133 missense 0.803 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797398 1q21.1 1 146141695A> T null D E 134 134 missense 0.866 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782307005 1q21.1 1 146141696T> C null D G 134 134 missense 0.908 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs6663523 1q21.1 1 146141697C> G null D H 134 134 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782307005 1q21.1 1 146141696T> A null D V 134 134 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs6663523 1q21.1 1 146141697C> A null D Y 134 134 missense 0.979 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782087911 1q21.1 1 146141690G> A null P L 136 136 missense 0.96 probably damaging 0.41 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs200499581 1q21.1 1 146141686G> C null D E 137 137 3.99E-4 missense 0.065 benign 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs200499581 1q21.1 1 146141686G> T null D E 137 137 3.99E-4 missense 0.065 benign 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797396 1q21.1 1 146141687T> A null D V 137 137 missense 0.048 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797394 1q21.1 1 146141683C> G null K N 138 138 missense 0.071 benign 0.54 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782163808 1q21.1 1 146141682A> C null S A 139 139 missense 0.042 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782806925 1q21.1 1 146141681G> C null S C 139 139 missense 0.709 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782806925 1q21.1 1 146141681G> T null S Y 139 139 missense 0.354 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781806481 1q21.1 1 146141679G> C null Q E 140 140 missense 0.017 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797389 1q21.1 1 146141678T> C null Q R 140 140 missense 0.041 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782733282 1q21.1 1 146141675C> T null G E 141 141 missense 0.071 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797388 1q21.1 1 146141676C> T null G R 141 141 missense 0.057 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782733282 1q21.1 1 146141675C> A null G V 141 141 missense 0.006 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781819714 1q21.1 1 146141673G> C null Q E 142 142 missense 0.038 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782688448 1q21.1 1 146141671C> G null Q H 142 142 missense 0.062 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781819714 1q21.1 1 146141673G> T null Q K 142 142 missense 0.041 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782510499 1q21.1 1 146141672T> A null Q L 142 142 missense 0.003 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782510499 1q21.1 1 146141672T> C null Q R 142 142 missense 0.06 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782455102 1q21.1 1 146141668G> T null D E 143 143 missense 0.071 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782287465 1q21.1 1 146141670C> T null D N 143 143 missense 0.071 benign 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797385 1q21.1 1 146141667G> A null L F 144 144 missense 0.005 benign 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797384 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.1 1 146141664G> A null Q * 145 145 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782344442 1q21.1 1 146141659T> G null E D 146 146 missense 0.801 possibly damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782225971 1q21.1 1 146141660T> C null E G 146 146 missense 0.859 possibly damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782005618 1q21.1 1 146141658G> A null Q * 147 147 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797377 1q21.1 1 146141651G> T null A D 149 149 missense 0.197 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782417094 1q21.1 1 146141652C> A null A S 149 149 missense 0.104 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782417094 1q21.1 1 146141652C> T null A T 149 149 missense 0.266 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782065569 1q21.1 1 146141649C> T null E K 150 150 missense 0.135 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781964859 1q21.1 1 146141645C> T null G E 151 151 missense 0.471 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781964859 1q21.1 1 146141645C> A null G V 151 151 missense 0.251 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782075649 1q21.1 1 146141642C> T null C Y 152 152 missense 0.18 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782789477 1q21.1 1 146141640T> C null R G 153 153 missense 0.048 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781909764 1q21.1 1 146141639C> T null R K 153 153 missense 0.001 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782156883 1q21.1 1 146141634C> G null A P 155 155 missense 0.192 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782156883 1q21.1 1 146141634C> A null A S 155 155 missense 0.096 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797373 1q21.1 1 146141633G> A null A V 155 155 missense 0.135 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797369 1q21.1 1 146141631G> T null Q K 156 156 missense 0.007 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782719853 1q21.1 1 146141630T> C null Q R 156 156 missense 0.0 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782595824 1q21.1 1 146141627T> A null H L 157 157 missense 0.03 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs4068114 1q21.1 1 146141626G> T null H Q 157 157 missense 0.094 benign 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782595824 1q21.1 1 146141627T> C null H R 157 157 missense 0.094 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782497081 1q21.1 1 146141628G> A null H Y 157 157 missense 0.094 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781874826 1q21.1 1 146141625G> T null L I 158 158 missense 0.801 possibly damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781874826 1q21.1 1 146141625G> C null L V 158 158 missense 0.801 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782499574 1q21.1 1 146141622C> T null V I 159 159 missense 0.009 benign 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782499574 1q21.1 1 146141622C> G null V L 159 159 missense 0.024 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1423644946 1q21.1 1 146141619G> A null Q * 160 160 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782325789 1q21.1 1 146141614C> G null K N 161 161 missense 0.096 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1163103919 1q21.1 1 146141616T> G null K Q 161 161 missense 0.071 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797361 1q21.1 1 146141613G> A null L F 162 162 missense 0.14 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782568848 1q21.1 1 146141610T> C null S G 163 163 missense 0.139 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1375066507 1q21.1 1 146141608G> C null S R 163 163 missense 0.084 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797360 1q21.1 1 146141606G> A null P L 164 164 missense 0.373 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553797360 1q21.1 1 146141606G> C null P R 164 164 missense 0.182 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs59644157 1q21.1 1 146140548C> T null E K 168 168 3.99E-4 missense 0.003 benign 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs59644157 1q21.1 1 146140548C> G null E Q 168 168 3.99E-4 missense 0.164 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796978 1q21.1 1 146140544T> C null D G 169 169 missense 0.389 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796978 1q21.1 1 146140544T> A null D V 169 169 missense 0.595 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781980238 1q21.1 1 146140541T> G null E A 170 170 missense 0.096 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782163511 1q21.1 1 146140540C> G null E D 170 170 missense 0.0 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782779760 1q21.1 1 146140542C> T null E K 170 170 missense 0.053 benign 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782710007 1q21.1 1 146140533C> T null D N 173 173 missense 0.182 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782710007 1q21.1 1 146140533C> A null D Y 173 173 missense 0.635 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ESP,ExAC,gnomAD rs377464088 1q21.1 1 146140529A> T null V D 174 174 missense 0.0 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ESP,ExAC,gnomAD rs200974019 1q21.1 1 146140530C> T null V I 174 174 missense 0.015 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587731546 1q21.1 1 146140527G> A null Q * 175 175 3.99E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587731546 1q21.1 1 146140527G> C null Q E 175 175 3.99E-4 missense 0.0 benign 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782510889 1q21.1 1 146140524C> G null V L 176 176 missense 0.007 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782285440 1q21.1 1 146140516C> A null E D 178 178 missense 0.801 possibly damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796968 1q21.1 1 146140517T> A null E V 178 178 missense 0.895 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs4068083 1q21.1 1 146140514G> T null A D 179 179 missense 0.0 benign 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs4068083 1q21.1 1 146140514G> C null A G 179 179 missense 0.001 benign 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782451487 1q21.1 1 146140515C> T null A T 179 179 missense 0.001 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782220765 1q21.1 1 146140507T> A null K N 181 181 missense 0.135 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782220765 1q21.1 1 146140507T> G null K N 181 181 missense 0.135 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782244986 1q21.1 1 146140503G> C null L V 183 183 missense 0.001 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796965 1q21.1 1 146140494A> C null S A 186 186 missense 0.028 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781937823 1q21.1 1 146140490G> T null A D 187 187 missense 0.266 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796964 1q21.1 1 146140491C> A null A S 187 187 missense 0.139 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781937823 1q21.1 1 146140490G> A null A V 187 187 missense 0.192 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782136905 1q21.1 1 146140487G> C null P R 188 188 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781952419 1q21.1 1 146140488G> A null P S 188 188 missense 0.932 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781909922 1q21.1 1 146140484C> A null R M 189 189 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796775 1q21.1 1 146140019C> A null E * 190 190 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1264164260 1q21.1 1 146140015A> T null V E 191 191 missense 0.25 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1264164260 1q21.1 1 146140015A> C null V G 191 191 missense 0.192 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs200693794 1q21.1 1 146140016C> A null V L 191 191 missense 0.0 benign 0.52 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs200693794 1q21.1 1 146140016C> T null V M 191 191 missense 0.211 benign 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796772 1q21.1 1 146140013G> A null Q * 192 192 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796771 1q21.1 1 146140012T> C null Q R 192 192 missense 0.136 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796770 1q21.1 1 146140009T> A null K M 193 193 missense 0.452 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs12124464 1q21.1 1 146140007C> A null A S 194 194 missense 0.01 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs12124464 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146140007C> T null A T 194 194 missense 0.053 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796766 1q21.1 1 146140003T> A null E V 195 195 missense 0.012 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782100059 1q21.1 1 146140001C> T null E K 196 196 missense 0.801 possibly damaging 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782100059 1q21.1 1 146140001C> G null E Q 196 196 missense 0.859 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553796756 1q21.1 1 146139997C> A null S I 197 197 missense 0.18 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553796756 1q21.1 1 146139997C> T null S N 197 197 missense 0.065 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782734924 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146139995T> C null K E 198 198 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781876394 1q21.1 1 146139993T> A null K N 198 198 missense 0.096 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781876394 1q21.1 1 146139993T> G null K N 198 198 missense 0.096 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782734924 1q21.1 1 146139995T> G null K Q 198 198 missense 0.053 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796752 1q21.1 1 146139994T> C null K R 198 198 missense 0.071 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782816067 1q21.1 1 146139991A> G null V A 199 199 missense 0.728 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782816067 1q21.1 1 146139991A> C null V G 199 199 missense 0.851 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1259663997 1q21.1 1 146139992C> T null V I 199 199 missense 0.621 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs28507779 1q21.1 1 146139989G> C null P A 200 200 missense 0.139 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs28507779 1q21.1 1 146139989G> T null P T 200 200 missense 0.254 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782218114 1q21.1 1 146139985T> C null E G 201 201 missense 0.139 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796742 1q21.1 1 146139981G> C null D E 202 202 missense 0.005 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782468346 1q21.1 1 146139983C> T null D N 202 202 missense 0.182 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782241809 1q21.1 1 146139974C> G null E Q 205 205 missense 0.197 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553796740 1q21.1 1 146139971C> A null E * 206 206 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553796740 1q21.1 1 146139971C> T null E K 206 206 missense 0.077 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1345407422 1q21.1 1 146139967C> A null C F 207 207 missense 0.18 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782190263 1q21.1 1 146139968A> G null C R 207 207 missense 0.18 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1345407422 1q21.1 1 146139967C> G null C S 207 207 missense 0.041 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1345407422 1q21.1 1 146139967C> T null C Y 207 207 missense 0.443 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796734 1q21.1 1 146139965C> T null A T 208 208 missense 0.135 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796729 1q21.1 1 146139964G> A null A V 208 208 missense 0.071 benign 0.71 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782127993 1q21.1 1 146139960G> C null I M 209 209 missense 0.266 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781956799 1q21.1 1 146139962T> C null I V 209 209 missense 0.017 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796724 1q21.1 1 146139958G> C null T S 210 210 missense 0.801 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782765744 1q21.1 1 146139956A> T null C S 211 211 missense 0.041 benign 0.95 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs868992891 1q21.1 1 146139955C> T null C Y 211 211 missense 0.12 benign 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796721 1q21.1 1 146139952G> T null S * 212 212 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796718 1q21.1 1 146139949T> C null N S 213 213 missense 0.001 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796719 1q21.1 1 146139950T> A null N Y 213 213 missense 0.266 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782720524 1q21.1 1 146139947T> C null S G 214 214 missense 0.065 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796715 1q21.1 1 146139946C> A null S I 214 214 missense 0.072 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796715 1q21.1 1 146139946C> T null S N 214 214 missense 0.094 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796710 1q21.1 1 146139945G> C null S R 214 214 missense 0.18 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796709 1q21.1 1 146139944G> C null H D 215 215 missense 0.06 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781795367 1q21.1 1 146139942G> T null H Q 215 215 missense 0.106 benign 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796707 1q21.1 1 146139943T> C null H R 215 215 missense 0.06 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782491890 1q21.1 1 146139941C> G null G R 216 216 missense 0.513 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782491890 1q21.1 1 146139941C> T null G S 216 216 missense 0.147 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1553796701 1q21.1 1 146139937G> C null P R 217 217 missense 0.057 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781864711 1q21.1 1 146139938G> A null P S 217 217 missense 0.071 benign 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782498631 1q21.1 1 146139934C> A null C F 218 218 missense 0.062 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782682192 1q21.1 1 146139928G> A null S F 220 220 missense 0.919 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553796690 1q21.1 1 146139925T> A null N I 221 221 missense 0.048 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796688 1q21.1 1 146139924G> C null N K 221 221 missense 0.094 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553796690 1q21.1 1 146139925T> G null N T 221 221 missense 0.065 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796684 1q21.1 1 146139923G> C null Q E 222 222 missense 0.388 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796681 1q21.1 1 146139921C> A null Q H 222 222 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796684 1q21.1 1 146139923G> T null Q K 222 222 missense 0.486 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796683 1q21.1 1 146139922T> C null Q R 222 222 missense 0.607 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782281254 1q21.1 1 146139920G> A null P S 223 223 missense 0.014 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 NCI-TCGA rs587604892 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146139917G> A null H Y 224 224 missense 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782397772 1q21.1 1 146139912C> A null K N 225 225 missense 0.065 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782397772 1q21.1 1 146139912C> G null K N 225 225 missense 0.065 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782211604 1q21.1 1 146139913T> C null K R 225 225 missense 0.065 benign 0.78 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782626111 1q21.1 1 146139909G> T null N K 226 226 missense 0.071 benign 0.48 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782296180 1q21.1 1 146139908T> A null I F 227 227 missense 0.136 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782410202 1q21.1 1 146139907A> G null I T 227 227 missense 0.001 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782296180 1q21.1 1 146139908T> C null I V 227 227 missense 0.012 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs781941278 1q21.1 1 146139903T> G null K N 228 228 missense 0.0 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796675 1q21.1 1 146139904T> C null K R 228 228 missense 0.001 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796673 1q21.1 1 146139898G> A null T I 230 230 missense 0.139 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782364665 1q21.1 1 146139895A> G null F S 231 231 missense 0.135 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782364665 1q21.1 1 146139895A> T null F Y 231 231 missense 0.135 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781949127 1q21.1 1 146139892T> G null E A 232 232 missense 0.801 possibly damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781949127 1q21.1 1 146139892T> C null E G 232 232 missense 0.859 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796664 1q21.1 1 146139889T> C null E G 233 233 missense 0.859 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1418165602 1q21.1 1 146139886T> C null D G 234 234 missense 0.096 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782769235 1q21.1 1 146139887C> G null D H 234 234 missense 0.452 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782769235 1q21.1 1 146139887C> T null D N 234 234 missense 0.096 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796653 1q21.1 1 146139883T> C null E G 235 235 missense 0.01 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782714329 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146139884C> T null E K 235 235 missense 0.0 benign 0.87 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781788505 1q21.1 1 146139881C> T null V I 236 236 missense 0.621 possibly damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1424714356 1q21.1 1 146139878T> C null N D 237 237 missense 0.065 benign 0.92 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782486301 1q21.1 1 146139877T> C null N S 237 237 missense 0.03 benign 0.43 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796649 1q21.1 1 146139874G> C null S * 238 238 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781858725 1q21.1 1 146139872T> C null T A 239 239 missense 0.003 benign 0.46 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796648 1q21.1 1 146139871G> A null T I 239 239 missense 0.139 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796648 1q21.1 1 146139871G> C null T S 239 239 missense 0.003 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781858725 1q21.1 1 146139872T> A null T S 239 239 missense 0.003 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1304337421 1q21.1 1 146139866C> A null V F 241 241 missense 0.354 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1304337421 1q21.1 1 146139866C> T null V I 241 241 missense 0.087 benign 0.48 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1365501326 1q21.1 1 146139863C> T null V I 242 242 missense 0.009 benign 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1365501326 1q21.1 1 146139863C> A null V L 242 242 missense 0.024 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796641 1q21.1 1 146139860C> T null D N 243 243 missense 0.254 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782206037 1q21.1 1 146139853T> G null E A 245 245 missense 0.045 benign 0.67 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782680974 1q21.1 1 146139854C> T null E K 245 245 missense 0.135 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782680974 1q21.1 1 146139854C> G null E Q 245 245 missense 0.192 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796635 1q21.1 1 146139851A> G null S P 246 246 missense 0.136 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796633 1q21.1 1 146139847G> C null S C 247 247 missense 0.617 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559355681 1q21.1 1 146139845G> C null H D 248 248 missense 0.011 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559355681 1q21.1 1 146139845G> T null H N 248 248 missense 0.065 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796631 1q21.1 1 146139844T> C null H R 248 248 missense 0.048 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796630 1q21.1 1 146139841T> C null D G 249 249 missense 0.908 possibly damaging 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1374449120 1q21.1 1 146139842C> G null D H 249 249 missense 0.979 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782624758 1q21.1 1 146139838T> C null E G 250 250 missense 0.139 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782624758 1q21.1 1 146139838T> A null E V 250 250 missense 0.197 benign 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782208316 1q21.1 1 146139836A> C null C G 251 251 missense 0.0 benign 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782208316 1q21.1 1 146139836A> G null C R 251 251 missense 0.0 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796627 1q21.1 1 146139834A> C null C W 251 251 missense 0.0 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1553796619 1q21.1 1 146139833G> C null Q E 252 252 missense 0.012 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553796618 1q21.1 1 146139827C> T null A T 254 254 missense 0.135 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs4659310 1q21.1 1 146139826G> A null A V 254 254 missense 0.003 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796614 1q21.1 1 146139824G> C null L V 255 255 missense 0.135 benign 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796610 1q21.1 1 146139819G> C null N K 256 256 missense 0.001 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1291039179 1q21.1 1 146139820T> C null N S 256 256 missense 0.0 benign 0.65 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796609 1q21.1 1 146139818T> C null I V 257 257 missense 0.026 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796607 1q21.1 1 146139814A> G null L P 258 258 missense 0.449 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781975408 1q21.1 1 146139815G> C null L V 258 258 missense 0.088 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782400726 1q21.1 1 146139811G> A null P L 259 259 missense 0.958 probably damaging 0.0 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200081155 1q21.1 1 146139812G> A null P S 259 259 missense 0.932 probably damaging 0.02 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795965 1q21.1 1 146138445A> T null V D 260 260 missense 0.683 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553796605 1q21.1 1 146139809C> T null V I 260 260 missense 0.198 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781969537 1q21.1 1 146138443G> C null P A 261 261 missense 0.728 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781969537 1q21.1 1 146138443G> A null P S 261 261 missense 0.803 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782040214 1q21.1 1 146138439C> T null G D 262 262 missense 0.003 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782378781 1q21.1 1 146138440C> T null G S 262 262 missense 0.053 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782145452 1q21.1 1 146138437G> A null P S 263 263 missense 0.003 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782713325 1q21.1 1 146138433G> A null T I 264 264 missense 0.537 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782713325 1q21.1 1 146138433G> T null T N 264 264 missense 0.412 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781870190 1q21.1 1 146138430G> T null S Y 265 265 missense 0.266 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795955 1q21.1 1 146138427G> C null S C 266 266 missense 0.526 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795954 1q21.1 1 146138424G> T null A D 267 267 missense 0.255 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782804085 1q21.1 1 146138421G> T null T K 268 268 missense 0.192 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782804085 1q21.1 1 146138421G> C null T R 268 268 missense 0.25 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781884673 1q21.1 1 146138418T> A null N I 269 269 missense 0.271 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs4068059 1q21.1 1 146138417G> T null N K 269 269 0.03894 missense 0.124 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782226979 1q21.1 1 146138416C> A null V F 270 270 missense 0.238 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782226979 1q21.1 1 146138416C> T null V I 270 270 missense 0.021 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782226979 1q21.1 1 146138416C> G null V L 270 270 missense 0.013 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559353768 1q21.1 1 146138413T> A null S C 271 271 missense 0.254 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782297764 1q21.1 1 146138412C> T null S N 271 271 missense 0.023 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782410602 1q21.1 1 146138408C> T null M I 272 272 missense 0.006 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559353754 1q21.1 1 146138409A> G null M T 272 272 missense 0.04 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795948 1q21.1 1 146138410T> C null M V 272 272 missense 0.006 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782364855 1q21.1 1 146138400G> T null S * 275 275 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782364855 1q21.1 1 146138400G> C null S * 275 275 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782364855 1q21.1 1 146138400G> A null S L 275 275 missense 0.21 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781958370 1q21.1 1 146138398C> A null A S 276 276 missense 0.229 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781958370 1q21.1 1 146138398C> T null A T 276 276 missense 0.288 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781837165 1q21.1 1 146138397G> A null A V 276 276 missense 0.359 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782712296 1q21.1 1 146138394C> T null G D 277 277 missense 0.673 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782145960 1q21.1 1 146138395C> T null G S 277 277 missense 0.982 probably damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782712296 1q21.1 1 146138394C> A null G V 277 277 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795940 1q21.1 1 146138391G> C null P R 278 278 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795941 1q21.1 1 146138392G> T null P T 278 278 missense 0.937 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs201965160 1q21.1 1 146138388A> G null L S 279 279 missense 0.114 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs201965160 1q21.1 1 146138388A> C null L W 279 279 missense 0.003 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782742901 1q21.1 1 146138385G> A null S F 280 280 missense 0.656 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs61814628 1q21.1 1 146138383T> C null S G 281 281 missense 0.647 possibly damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782666115 1q21.1 1 146138382C> T null S N 281 281 missense 0.805 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781813557 1q21.1 1 146138381G> T null S R 281 281 missense 0.946 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781813557 1q21.1 1 146138381G> C null S R 281 281 missense 0.946 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782218830 1q21.1 1 146138380C> T null E K 282 282 missense 0.281 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782218830 1q21.1 1 146138380C> G null E Q 282 282 missense 0.503 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782635356 1q21.1 1 146138377T> C null K E 283 283 missense 0.021 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795931 1q21.1 1 146138374C> T null A T 284 284 missense 0.007 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs4143500 1q21.1 1 146138370T> G null E A 285 285 0.03574 missense 0.078 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs4143500 1q21.1 1 146138370T> C null E G 285 285 0.03574 missense 0.21 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587699676 1q21.1 1 146138371C> T null E K 285 285 2.0E-4 missense 0.21 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs61814630 1q21.1 1 146138366C> A null M I 286 286 0.03574 missense 0.084 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs61814630 1q21.1 1 146138366C> T null M I 286 286 0.03574 missense 0.084 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781950777 1q21.1 1 146138367A> G null M T 286 286 missense 0.001 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782804520 1q21.1 1 146138364T> C null N S 287 287 missense 0.106 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782804520 1q21.1 1 146138364T> G null N T 287 287 missense 0.269 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781889222 1q21.1 1 146138362T> C null I V 288 288 missense 0.03 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795929 1q21.1 1 146138358A> G null L P 289 289 missense 0.996 probably damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781845221 1q21.1 1 146138356C> T null E K 290 290 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs9424711 1q21.1 1 146138351G> C null I M 291 291 missense 0.03 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782555314 1q21.1 1 146138348A> T null N K 292 292 missense 0.21 benign 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782555314 1q21.1 1 146138348A> C null N K 292 292 missense 0.21 benign 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587726784 1q21.1 1 146138349T> C null N S 292 292 2.0E-4 missense 0.078 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587726784 1q21.1 1 146138349T> G null N T 292 292 2.0E-4 missense 0.005 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587604802 1q21.1 1 146138347C> T null E K 293 293 2.0E-4 missense 0.028 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587604802 1q21.1 1 146138347C> G null E Q 293 293 2.0E-4 missense 0.269 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782616084 1q21.1 1 146138344T> A null K * 294 294 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782210451 1q21.1 1 146138343T> A null K I 294 294 missense 0.406 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782210451 1q21.1 1 146138343T> G null K T 294 294 missense 0.011 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587679766 1q21.1 1 146138338G> A null R C 296 296 2.0E-4 missense 0.02 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200473325 1q21.1 1 146138337C> T null R H 296 296 missense 0.014 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200473325 1q21.1 1 146138337C> A null R L 296 296 missense 0.083 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795921 1q21.1 1 146138334G> A null P L 297 297 missense 0.996 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782735789 1q21.1 1 146138335G> T null P T 297 297 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782124343 1q21.1 1 146138330C> G null Q H 298 298 missense 0.164 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795920 1q21.1 1 146138332G> T null Q K 298 298 missense 0.13 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795919 1q21.1 1 146138328A> G null L P 299 299 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795915 1q21.1 1 146138325G> C null A G 300 300 missense 0.801 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782796702 1q21.1 1 146138326C> A null A S 300 300 missense 0.801 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782796702 1q21.1 1 146138326C> T null A T 300 300 missense 0.801 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795914 1q21.1 1 146138318C> G null K N 302 302 missense 0.067 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781879316 1q21.1 1 146138314G> A null Q * 304 304 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781879316 1q21.1 1 146138314G> C null Q E 304 304 missense 0.05 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782442378 1q21.1 1 146138312C> G null Q H 304 304 missense 0.558 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795909 1q21.1 1 146138311G> T null Q K 305 305 missense 0.097 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782464833 1q21.1 1 146138305T> C null R G 307 307 missense 0.003 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782244894 1q21.1 1 146138304C> A null R I 307 307 missense 0.062 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782244894 1q21.1 1 146138304C> T null R K 307 307 missense 0.084 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782244894 1q21.1 1 146138304C> G null R T 307 307 missense 0.131 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782536970 1q21.1 1 146138302T> G null N H 308 308 missense 0.54 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782576634 1q21.1 1 146138301T> A null N I 308 308 missense 0.003 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782576634 1q21.1 1 146138301T> C null N S 308 308 missense 0.009 benign 0.48 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795894 1q21.1 1 146138293C> T null E K 311 311 missense 0.173 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782356315 1q21.1 1 146138290T> A null K * 312 312 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782356315 1q21.1 1 146138290T> C null K E 312 312 missense 0.157 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782269140 1q21.1 1 146138289T> C null K R 312 312 missense 0.069 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782383068 1q21.1 1 146138287A> T null C S 313 313 missense 0.838 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782043546 1q21.1 1 146138286C> T null C Y 313 313 missense 0.702 possibly damaging 0.64 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782142994 1q21.1 1 146138283A> T null F Y 314 314 missense 0.884 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes rs587605497 1q21.1 1 146138280A> C null L R 315 315 2.0E-4 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs201650661 1q21.1 1 146138281G> C null L V 315 315 3.99E-4 missense 0.067 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781914537 1q21.1 1 146138275G> A null Q * 317 317 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782093475 1q21.1 1 146138273T> A null Q H 317 317 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782718220 1q21.1 1 146138272G> C null L V 318 318 missense 0.269 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs199863138 1q21.1 1 146138269A> C null S A 319 319 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795882 1q21.1 1 146138265C> G null G A 320 320 missense 0.917 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782433058 1q21.1 1 146138266C> G null G R 320 320 missense 0.996 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782433058 1q21.1 1 146138266C> T null G S 320 320 missense 0.947 probably damaging 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795880 1q21.1 1 146138261G> C null F L 321 321 missense 0.0 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782211635 1q21.1 1 146138263A> C null F V 321 321 missense 0.033 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ESP,ExAC,TOPMed,gnomAD rs374151992 1q21.1 1 146138259A> C null L R 322 322 missense 0.439 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795879 1q21.1 1 146138257C> T null A T 323 323 missense 0.114 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782640231 1q21.1 1 146138256G> A null A V 323 323 missense 0.003 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587664981 1q21.1 1 146138251G> A null Q * 325 325 2.0E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587664981 1q21.1 1 146138251G> C null Q E 325 325 2.0E-4 missense 0.058 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1312233857 1q21.1 1 146138249T> G null Q H 325 325 missense 0.438 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587664981 1q21.1 1 146138251G> T null Q K 325 325 2.0E-4 missense 0.043 benign 0.67 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs376889523 1q21.1 1 146138250T> A null Q L 325 325 missense 0.013 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs376889523 1q21.1 1 146138250T> C null Q R 325 325 missense 0.006 benign 0.85 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559353418 1q21.1 1 146138248G> A null Q * 326 326 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782348169 1q21.1 1 146138247T> C null Q R 326 326 missense 0.141 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782125711 1q21.1 1 146138243C> G null K N 327 327 missense 0.01 benign 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553795874 1q21.1 1 146138241T> G null K T 328 328 missense 0.106 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782775476 1q21.1 1 146138238T> C null Y C 329 329 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1277691882 1q21.1 1 146138236T> C null K E 330 330 missense 0.395 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs372124699 1q21.1 1 146136454T> G null K N 330 330 missense 0.92 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782148806 1q21.1 1 146136451A> C null Y * 331 331 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782033980 1q21.1 1 146136452T> A null Y F 331 331 missense 0.969 probably damaging 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794999 1q21.1 1 146136453A> T null Y N 331 331 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794996 1q21.1 1 146136449T> C null E G 332 332 missense 0.215 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794997 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146136450C> T null E K 332 332 missense 0.124 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587703437 1q21.1 1 146136445C> G null E D 333 333 2.0E-4 missense 0.472 possibly damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1315756594 1q21.1 1 146136447C> T null E K 333 333 missense 0.943 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782081781 1q21.1 1 146136443C> A null C F 334 334 missense 0.211 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1244895405 1q21.1 1 146136444A> G null C R 334 334 missense 0.434 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1244895405 1q21.1 1 146136444A> T null C S 334 334 missense 0.196 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782081781 1q21.1 1 146136443C> T null C Y 334 334 missense 0.434 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781813997 1q21.1 1 146136437T> G null D A 336 336 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781813997 1q21.1 1 146136437T> C null D G 336 336 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781857108 1q21.1 1 146136438C> G null D H 336 336 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781857108 1q21.1 1 146136438C> T null D N 336 336 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781857108 1q21.1 1 146136438C> A null D Y 336 336 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782444693 1q21.1 1 146136435G> A null L F 337 337 missense 0.563 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1424415299 1q21.1 1 146136434A> T null L H 337 337 missense 0.568 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782444693 1q21.1 1 146136435G> C null L V 337 337 missense 0.152 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794987 1q21.1 1 146136432T> A null I L 338 338 missense 0.013 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553794982 1q21.1 1 146136431A> G null I T 338 338 missense 0.106 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1308907046 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146136425A> C null F C 340 340 missense 0.54 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782204474 1q21.1 1 146136426A> T null F I 340 340 missense 0.131 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1308907046 1q21.1 1 146136425A> G null F S 340 340 missense 0.001 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1308907046 1q21.1 1 146136425A> T null F Y 340 340 missense 0.182 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782293706 1q21.1 1 146136421C> G null M I 341 341 missense 0.026 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782293706 1q21.1 1 146136421C> A null M I 341 341 missense 0.026 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782293706 1q21.1 1 146136421C> T null M I 341 341 missense 0.026 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782637409 1q21.1 1 146136422A> G null M T 341 341 missense 0.062 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794972 1q21.1 1 146136423T> C null M V 341 341 missense 0.019 benign 0.51 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794968 1q21.1 1 146136417T> C null R G 343 343 missense 0.92 probably damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781936796 1q21.1 1 146136416C> T null R K 343 343 missense 0.92 probably damaging 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782183262 1q21.1 1 146136414T> C null N D 344 344 missense 0.019 benign 0.49 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782343002 1q21.1 1 146136413T> A null N I 344 344 missense 0.083 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782343002 1q21.1 1 146136413T> C null N S 344 344 missense 0.13 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782117009 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.1 1 146136408G> A null R * 346 346 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782420567 1q21.1 1 146136407C> T null R Q 346 346 missense 0.406 benign 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794964 1q21.1 1 146136405G> C null Q E 347 347 missense 0.0 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782073518 1q21.1 1 146136403C> G null Q H 347 347 missense 0.346 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782073518 1q21.1 1 146136403C> A null Q H 347 347 missense 0.346 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782022330 1q21.1 1 146136404T> C null Q R 347 347 missense 0.053 benign 0.73 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781850208 1q21.1 1 146136400G> C null F L 348 348 missense 0.003 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782708345 1q21.1 1 146136402A> G null F L 348 348 missense 0.003 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782708345 1q21.1 1 146136402A> C null F V 348 348 missense 0.078 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782077353 1q21.1 1 146136397C> G null K N 349 349 missense 0.453 possibly damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794962 1q21.1 1 146136399T> G null K Q 349 349 missense 0.453 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587607524 1q21.1 1 146136396C> T null E K 350 350 3.99E-4 missense 0.229 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587682470 1q21.1 1 146136395T> A null E V 350 350 2.0E-4 missense 0.461 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782660956 1q21.1 1 146136393C> T null E K 351 351 missense 0.979 probably damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782660956 1q21.1 1 146136393C> G null E Q 351 351 missense 0.986 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1232154921 1q21.1 1 146136389T> A null K M 352 352 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782441122 1q21.1 1 146136388C> A null K N 352 352 missense 0.99 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782263718 1q21.1 1 146136383G> T null A E 354 354 missense 0.382 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782263718 1q21.1 1 146136383G> C null A G 354 354 missense 0.288 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782600723 1q21.1 1 146136384C> A null A S 354 354 missense 0.229 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782263718 1q21.1 1 146136383G> A null A V 354 354 missense 0.288 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782320592 1q21.1 1 146136381C> A null E * 355 355 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782094143 1q21.1 1 146136380T> G null E A 355 355 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782320592 1q21.1 1 146136381C> G null E Q 355 355 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782351423 1q21.1 1 146136378G> C null Q E 356 356 missense 0.091 benign 0.52 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782008025 1q21.1 1 146136376C> G null Q H 356 356 missense 0.655 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794948 1q21.1 1 146136377T> A null Q L 356 356 missense 0.013 benign 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1444113524 1q21.1 1 146136372T> C null K E 358 358 missense 0.053 benign 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794941 1q21.1 1 146136370C> A null K N 358 358 missense 0.114 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782806653 1q21.1 1 146136371T> C null K R 358 358 missense 0.083 benign 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781891334 1q21.1 1 146136368T> C null Q R 359 359 missense 0.131 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781839260 1q21.1 1 146136365G> C null A G 360 360 missense 0.121 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782064822 1q21.1 1 146136366C> G null A P 360 360 missense 0.439 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782064822 1q21.1 1 146136366C> T null A T 360 360 missense 0.015 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781839260 1q21.1 1 146136365G> A null A V 360 360 missense 0.21 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794936 1q21.1 1 146136362T> A null E V 361 361 missense 0.083 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794934 1q21.1 1 146136360C> A null E * 362 362 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794934 1q21.1 1 146136360C> T null E K 362 362 missense 0.163 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794925 1q21.1 1 146136356A> C null L R 363 363 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794929 1q21.1 1 146136357G> C null L V 363 363 missense 0.69 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782631925 1q21.1 1 146136353C> G null R T 364 364 missense 0.924 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782565292 1q21.1 1 146135520G> T null Q K 365 365 missense 0.12 benign 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs868951311 1q21.1 1 146135516T> C null Y C 366 366 missense 0.992 probably damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1352791659 1q21.1 1 146135517A> G null Y H 366 366 missense 0.989 probably damaging 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782339758 1q21.1 1 146135513T> C null K R 367 367 missense 0.21 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs113140328 1q21.1 1 146135505C> A null V F 370 370 missense 0.946 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs113140328 1q21.1 1 146135505C> T null V I 370 370 missense 0.737 possibly damaging 0.63 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200242621 1q21.1 1 146135499C> A null A S 372 372 missense 0.007 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200242621 1q21.1 1 146135499C> T null A T 372 372 missense 0.014 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794550 1q21.1 1 146135496G> A null Q * 373 373 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794550 1q21.1 1 146135496G> C null Q E 373 373 missense 0.659 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1271520071 1q21.1 1 146135495T> C null Q R 373 373 missense 0.825 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782073149 1q21.1 1 146135493C> A null E * 374 374 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782073149 1q21.1 1 146135493C> G null E Q 374 374 missense 0.946 probably damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs201507635 1q21.1 1 146135490G> A null R * 375 375 9.98E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs201507635 1q21.1 1 146135490G> C null R G 375 375 9.98E-4 missense 0.897 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781845717 1q21.1 1 146135489C> G null R P 375 375 missense 0.956 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781845717 1q21.1 1 146135489C> T null R Q 375 375 missense 0.89 possibly damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794547 1q21.1 1 146135487C> A null E * 376 376 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794546 1q21.1 1 146135483A> G null L P 377 377 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587628031 1q21.1 1 146135480G> A null T I 378 378 0.1334 missense 0.964 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794537 1q21.1 1 146135477T> G null Q P 379 379 missense 0.921 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781788530 1q21.1 1 146135473T> A null L F 380 380 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782484336 1q21.1 1 146135472T> C null K E 381 381 missense 0.229 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782257802 1q21.1 1 146135470C> G null K N 381 381 missense 0.382 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782484336 1q21.1 1 146135472T> G null K Q 381 381 missense 0.311 benign 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs3926769 1q21.1 1 146135471T> C null K R 381 381 0.4866 missense 0.009 benign 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782682046 1q21.1 1 146135467C> G null E D 382 382 missense 0.878 possibly damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794531 1q21.1 1 146135468T> C null E G 382 382 missense 0.946 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782372086 1q21.1 1 146135469C> T null E K 382 382 missense 0.915 probably damaging 0.52 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553794530 1q21.1 1 146135465T> A null K M 383 383 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794527 1q21.1 1 146135464C> A null K N 383 383 missense 0.946 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794527 1q21.1 1 146135464C> G null K N 383 383 missense 0.946 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587656023 1q21.1 1 146135459C> A null R L 385 385 2.0E-4 missense 0.866 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587656023 1q21.1 1 146135459C> G null R P 385 385 2.0E-4 missense 0.956 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587656023 1q21.1 1 146135459C> T null R Q 385 385 2.0E-4 missense 0.286 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782326146 1q21.1 1 146135460G> A null R W 385 385 missense 0.092 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782345083 1q21.1 1 146135457C> A null E * 386 386 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782003764 1q21.1 1 146135456T> C null E G 386 386 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1337441932 1q21.1 1 146135453C> G null G A 387 387 missense 0.99 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794518 1q21.1 1 146135451T> C null R G 388 388 missense 0.291 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1450667074 1q21.1 1 146135449T> G null R S 388 388 missense 0.402 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794517 1q21.1 1 146135450C> G null R T 388 388 missense 0.402 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794513 1q21.1 1 146135448C> G null D H 389 389 missense 0.934 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794513 1q21.1 1 146135448C> A null D Y 389 389 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794509 1q21.1 1 146135445C> A null A S 390 390 missense 0.213 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1336347099 1q21.1 1 146135444G> A null A V 390 390 missense 0.27 benign 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782807288 1q21.1 1 146135439G> A null R C 392 392 missense 0.791 possibly damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781804321 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146135438C> T null R H 392 392 missense 0.027 benign 0.52 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781804321 1q21.1 1 146135438C> A null R L 392 392 missense 0.386 benign 0.61 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794500 1q21.1 1 146135435G> A null S L 393 393 missense 0.072 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781819718 1q21.1 1 146135436A> G null S P 393 393 missense 0.32 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1462293879 1q21.1 1 146135428A> C null N K 395 395 missense 0.082 benign 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794493 1q21.1 1 146135429T> C null N S 395 395 missense 0.269 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs376449217 1q21.1 1 146135430T> A null N Y 395 395 missense 0.006 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782754664 1q21.1 1 146135427C> T null E K 396 396 missense 0.641 possibly damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782754664 1q21.1 1 146135427C> G null E Q 396 396 missense 0.067 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794488 1q21.1 1 146135424G> T null H N 397 397 missense 0.15 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1447301418 1q21.1 1 146135421G> A null L F 398 398 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1447301418 1q21.1 1 146135421G> C null L V 398 398 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1475022988 1q21.1 1 146135416C> G null Q H 399 399 missense 0.558 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1475022988 1q21.1 1 146135416C> A null Q H 399 399 missense 0.558 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782535792 1q21.1 1 146135412G> A null L F 401 401 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794473 1q21.1 1 146135409G> C null L V 402 402 missense 0.937 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794471 1q21.1 1 146135405G> A null T I 403 403 missense 0.964 probably damaging 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794472 1q21.1 1 146135406T> G null T P 403 403 missense 0.964 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782182383 1q21.1 1 146135402G> A null P L 404 404 missense 0.133 benign 0.73 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782375882 1q21.1 1 146135398A> T null Y * 405 405 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782264292 1q21.1 1 146135399T> C null Y C 405 405 missense 0.613 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs77202220 1q21.1 1 146135400A> C null Y D 405 405 missense 0.006 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs77202220 1q21.1 1 146135400A> T null Y N 405 405 missense 0.062 benign 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794466 1q21.1 1 146135395C> G null E D 406 406 missense 0.163 benign 0.43 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794468 1q21.1 1 146135397C> T null E K 406 406 missense 0.015 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782197782 1q21.1 1 146135393G> A null P L 407 407 missense 0.996 probably damaging 0.59 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781967179 1q21.1 1 146135389G> C null D E 408 408 missense 0.269 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781967179 1q21.1 1 146135389G> T null D E 408 408 missense 0.269 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794465 1q21.1 1 146135391C> T null D N 408 408 missense 0.359 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs182724392 1q21.1 1 146135382G> C null Q E 411 411 0.004992 missense 0.067 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782787844 1q21.1 1 146135381T> A null Q L 411 411 missense 0.053 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781981688 1q21.1 1 146135378C> T null G E 412 412 missense 0.731 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1406048808 1q21.1 1 146135379C> T null G R 412 412 missense 0.804 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794454 1q21.1 1 146135375T> G null Q P 413 413 missense 0.253 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782801406 1q21.1 1 146135370G> A null L F 415 415 missense 0.994 probably damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794447 1q21.1 1 146135364C> T null E K 417 417 missense 0.979 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794446 1q21.1 1 146135363T> A null E V 417 417 missense 0.99 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs781816580 1q21.1 1 146135358G> T null L M 419 419 missense 0.656 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587606960 1q21.1 1 146135355C> T null A T 420 420 7.99E-4 missense 0.961 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782743656 1q21.1 1 146135352C> T null E K 421 421 missense 0.915 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782637133 1q21.1 1 146135348C> T null G E 422 422 missense 0.997 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782514114 1q21.1 1 146135349C> G null G R 422 422 missense 0.998 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782514114 1q21.1 1 146135349C> A null G W 422 422 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794439 1q21.1 1 146135345C> T null C Y 423 423 missense 0.942 probably damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587642491 1q21.1 1 146135343T> C null R G 424 424 2.0E-4 missense 0.824 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794433 1q21.1 1 146135334G> A null Q * 427 427 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782222526 1q21.1 1 146135332C> A null Q H 427 427 missense 0.655 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782336883 1q21.1 1 146135328G> A null L F 429 429 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782336883 1q21.1 1 146135328G> T null L I 429 429 missense 0.979 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794428 1q21.1 1 146135327A> C null L R 429 429 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781995269 1q21.1 1 146135325C> A null V F 430 430 missense 0.33 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781995269 1q21.1 1 146135325C> T null V I 430 430 missense 0.889 possibly damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587717888 1q21.1 1 146135317C> A null K N 432 432 2.0E-4 missense 0.382 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553794421 1q21.1 1 146135318T> C null K R 432 432 missense 0.009 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794419 1q21.1 1 146135316G> T null L I 433 433 missense 0.019 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782416358 1q21.1 1 146135312C> A null S I 434 434 missense 0.791 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794410 1q21.1 1 146135311G> C null S R 434 434 missense 0.31 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782416358 1q21.1 1 146135312C> G null S T 434 434 missense 0.546 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782759300 1q21.1 1 146134265T> C null E G 436 436 missense 0.163 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782759300 1q21.1 1 146134265T> A null E V 436 436 missense 0.288 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781893854 1q21.1 1 146134262T> C null N S 437 437 missense 0.053 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202002098 1q21.1 1 146134258G> T null D E 438 438 0.001797 missense 0.122 benign 0.6 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202002098 1q21.1 1 146134258G> C null D E 438 438 0.001797 missense 0.122 benign 0.6 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1158989232 1q21.1 1 146134260C> G null D H 438 438 missense 0.98 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559348548 1q21.1 1 146134257T> C null N D 439 439 missense 0.0 benign 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781795876 1q21.1 1 146134255G> T null N K 439 439 missense 0.001 benign 0.69 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781795876 1q21.1 1 146134255G> C null N K 439 439 missense 0.001 benign 0.69 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782582821 1q21.1 1 146134256T> C null N S 439 439 missense 0.0 benign 0.46 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782606657 1q21.1 1 146134254C> T null D N 440 440 missense 0.374 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782378936 1q21.1 1 146134249G> C null D E 441 441 missense 0.0 benign 0.95 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782378936 1q21.1 1 146134249G> T null D E 441 441 missense 0.0 benign 0.95 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794032 1q21.1 1 146134250T> C null D G 441 441 missense 0.026 benign 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782267140 1q21.1 1 146134251C> G null D H 441 441 missense 0.131 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782267140 1q21.1 1 146134251C> T null D N 441 441 missense 0.043 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782690582 1q21.1 1 146134248C> T null D N 442 442 missense 0.63 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782690582 1q21.1 1 146134248C> A null D Y 442 442 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794024 1q21.1 1 146134243T> G null E D 443 443 missense 0.647 possibly damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587756080 1q21.1 1 146134244T> C null E G 443 443 7.99E-4 missense 0.794 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794029 1q21.1 1 146134245C> T null E K 443 443 missense 0.487 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371240581 1q21.1 1 146134241T> A null D V 444 444 0.001797 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794021 1q21.1 1 146134242C> A null D Y 444 444 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200417394 1q21.1 1 146134239C> T null V I 445 445 2.0E-4 missense 0.737 possibly damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200417394 1q21.1 1 146134239C> G null V L 445 445 2.0E-4 missense 0.737 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794017 1q21.1 1 146134232A> G null V A 447 447 missense 0.825 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781976415 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146134233C> T null V I 447 447 missense 0.737 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794015 1q21.1 1 146134229T> G null E A 448 448 missense 0.915 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782162366 1q21.1 1 146134228C> G null E D 448 448 missense 0.878 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782778649 1q21.1 1 146134226A> G null V A 449 449 missense 0.036 benign 0.53 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782778649 1q21.1 1 146134226A> T null V E 449 449 missense 0.003 benign 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794012 1q21.1 1 146134227C> A null V L 449 449 missense 0.073 benign 0.69 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794009 1q21.1 1 146134223G> C null A G 450 450 missense 0.003 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794011 1q21.1 1 146134224C> T null A T 450 450 missense 0.269 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1352000208 1q21.1 1 146134220T> C null E G 451 451 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794007 1q21.1 1 146134218T> C null K E 452 452 missense 0.915 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553794006 1q21.1 1 146134214A> G null V A 453 453 missense 0.825 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782052241 1q21.1 1 146134215C> G null V L 453 453 missense 0.737 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1239970379 1q21.1 1 146134212G> A null Q * 454 454 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781828364 1q21.1 1 146134211T> A null Q L 454 454 missense 0.001 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781828364 1q21.1 1 146134211T> C null Q R 454 454 missense 0.196 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782527114 1q21.1 1 146134209T> C null K E 455 455 missense 0.005 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782762791 1q21.1 1 146134205G> A null S L 456 456 missense 0.019 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587622795 1q21.1 1 146134202G> C null S C 457 457 0.002196 missense 0.019 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587622795 1q21.1 1 146134202G> A null S F 457 457 0.002196 missense 0.182 benign 0.7 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782557843 1q21.1 1 146134200C> A null A S 458 458 missense 0.045 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793997 1q21.1 1 146134199G> A null A V 458 458 missense 0.121 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793986 1q21.1 1 146134196G> A null P L 459 459 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793986 1q21.1 1 146134196G> C null P R 459 459 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782464971 1q21.1 1 146134197G> A null P S 459 459 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782008931 1q21.1 1 146133725C> G null E D 461 461 missense 0.984 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793788 1q21.1 1 146133727C> T null E K 461 461 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793787 1q21.1 1 146133726T> A null E V 461 461 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1288409394 1q21.1 1 146133722C> T null M I 462 462 missense 0.011 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782246695 1q21.1 1 146133724T> C null M V 462 462 missense 0.0 benign 0.86 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782435980 1q21.1 1 146133721G> C null Q E 463 463 missense 0.114 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782021014 1q21.1 1 146133720T> G null Q P 463 463 missense 0.236 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782021014 1q21.1 1 146133720T> C null Q R 463 463 missense 0.173 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587626853 1q21.1 1 146133716C> A null K N 464 464 3.99E-4 missense 0.27 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782129328 1q21.1 1 146133714G> C null A G 465 465 missense 0.338 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782314568 1q21.1 1 146133715C> A null A S 465 465 missense 0.27 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782314568 1q21.1 1 146133715C> T null A T 465 465 missense 0.02 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782752126 1q21.1 1 146133711T> G null E A 466 466 missense 0.105 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs375765819 1q21.1 1 146133708T> C null E G 467 467 missense 0.981 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs375765819 1q21.1 1 146133708T> A null E V 467 467 missense 0.647 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs781785405 1q21.1 1 146133706T> C null K E 468 468 missense 0.152 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782607679 1q21.1 1 146133703C> T null E K 469 469 missense 0.007 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782607679 1q21.1 1 146133703C> G null E Q 469 469 missense 0.213 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782675714 1q21.1 1 146133699A> G null V A 470 470 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793772 1q21.1 1 146133691C> A null D Y 473 473 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793771 1q21.1 1 146133687G> A null S L 474 474 missense 0.981 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587766753 1q21.1 1 146133685G> C null L V 475 475 5.99E-4 missense 0.984 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793767 1q21.1 1 146133680C> G null E D 476 476 missense 0.006 benign 0.64 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782389005 1q21.1 1 146133679C> A null E * 477 477 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781989243 1q21.1 1 146133676A> G null C R 478 478 missense 0.994 probably damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781989243 1q21.1 1 146133676A> T null C S 478 478 missense 0.981 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782158708 1q21.1 1 146133674A> C null C W 478 478 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782403854 1q21.1 1 146133672G> A null A V 479 479 missense 0.029 benign 0.43 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781928605 1q21.1 1 146133670T> C null I V 480 480 missense 0.019 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782047027 1q21.1 1 146133666G> A null T I 481 481 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793760 1q21.1 1 146133667T> G null T P 481 481 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782047027 1q21.1 1 146133666G> C null T S 481 481 missense 0.984 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793754 1q21.1 1 146133663T> C null Y C 482 482 missense 0.006 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793756 1q21.1 1 146133664A> C null Y D 482 482 missense 0.196 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782139607 1q21.1 1 146133660G> A null S L 483 483 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781909456 1q21.1 1 146133657T> A null N I 484 484 missense 0.565 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781909456 1q21.1 1 146133657T> C null N S 484 484 missense 0.007 benign 0.51 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782595371 1q21.1 1 146133654C> T null S N 485 485 missense 0.43 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782529681 1q21.1 1 146133655T> G null S R 485 485 missense 0.616 possibly damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC rs587662325 1q21.1 1 146133652G> C null H D 486 486 2.0E-4 missense 0.333 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782492207 1q21.1 1 146133651T> C null H R 486 486 missense 0.253 benign 0.45 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793747 1q21.1 1 146133649C> A null G C 487 487 missense 0.891 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782647652 1q21.1 1 146133648C> A null G V 487 487 missense 0.545 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs57379664 1q21.1 1 146133646A> C null S A 488 488 missense 0.049 benign 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782247973 1q21.1 1 146133645G> C null S C 488 488 missense 0.78 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782247973 1q21.1 1 146133645G> A null S F 488 488 missense 0.637 possibly damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs57379664 1q21.1 1 146133646A> G null S P 488 488 missense 0.003 benign 0.53 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1250829212 1q21.1 1 146133642T> C null Y C 489 489 missense 0.006 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1250829212 1q21.1 1 146133642T> A null Y F 489 489 missense 0.333 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1250829212 1q21.1 1 146133642T> G null Y S 489 489 missense 0.152 benign 0.78 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1159088191 1q21.1 1 146133639T> G null D A 490 490 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1382064238 1q21.1 1 146133638G> C null D E 490 490 missense 0.826 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782659713 1q21.1 1 146133640C> T null D N 490 490 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1159088191 1q21.1 1 146133639T> A null D V 490 490 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793725 1q21.1 1 146133636G> A null S F 491 491 missense 0.465 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782185684 1q21.1 1 146133634T> G null N H 492 492 missense 0.725 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782302575 1q21.1 1 146133633T> C null N S 492 492 missense 0.099 benign 0.45 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781964907 1q21.1 1 146133631G> C null Q E 493 493 missense 0.909 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781964907 1q21.1 1 146133631G> T null Q K 493 493 missense 0.937 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793709 1q21.1 1 146133627G> A null P L 494 494 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781991878 1q21.1 1 146133628G> T null P T 494 494 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782798237 1q21.1 1 146133623A> C null H Q 495 495 missense 0.34 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782173688 1q21.1 1 146133625G> A null H Y 495 495 missense 0.003 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781935091 1q21.1 1 146133621C> T null R K 496 496 missense 0.003 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781935091 1q21.1 1 146133621C> G null R T 496 496 missense 0.131 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782741429 1q21.1 1 146133617T> A null K N 497 497 missense 0.003 benign 0.63 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1324153662 1q21.1 1 146133615G> C null T S 498 498 missense 0.007 benign 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793692 1q21.1 1 146133613T> G null K Q 499 499 missense 0.432 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782502330 1q21.1 1 146133612T> C null K R 499 499 missense 0.333 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1370607407 1q21.1 1 146133606G> A null T I 501 501 missense 0.042 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782812590 1q21.1 1 146133601C> A null E * 503 503 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782571978 1q21.1 1 146133599C> A null E D 503 503 missense 0.984 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782812590 1q21.1 1 146133601C> T null E K 503 503 missense 0.984 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782812590 1q21.1 1 146133601C> G null E Q 503 503 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793672 1q21.1 1 146133595C> T null D N 505 505 missense 0.213 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793669 1q21.1 1 146133594T> A null D V 505 505 missense 0.36 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793664 1q21.1 1 146133591T> C null K R 506 506 missense 0.152 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793662 1q21.1 1 146133589C> G null V L 507 507 missense 0.963 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782477283 1q21.1 1 146133586C> T null D N 508 508 missense 0.003 benign 0.9 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782477283 1q21.1 1 146133586C> A null D Y 508 508 missense 0.881 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782251806 1q21.1 1 146133582G> C null S * 509 509 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs9424873 1q21.1 1 146133580T> C null T A 510 510 missense 0.02 benign 0.59 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782427139 1q21.1 1 146133579G> A null T I 510 510 missense 0.36 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782427139 1q21.1 1 146133579G> T null T N 510 510 missense 0.16 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs9424873 1q21.1 1 146133580T> G null T P 510 510 missense 0.438 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782427139 1q21.1 1 146133579G> C null T S 510 510 missense 0.007 benign 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs9424873 1q21.1 1 146133580T> A null T S 510 510 missense 0.007 benign 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793649 1q21.1 1 146133577G> A null L F 511 511 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793649 1q21.1 1 146133577G> C null L V 511 511 missense 0.374 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782311495 1q21.1 1 146133573A> G null I T 512 512 missense 0.152 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793639 1q21.1 1 146133571C> T null G S 513 513 missense 0.462 possibly damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793631 1q21.1 1 146133567G> A null S L 514 514 missense 0.152 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781972516 1q21.1 1 146133565A> G null S P 515 515 missense 0.535 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782773301 1q21.1 1 146133562A> G null S P 516 516 missense 0.535 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782028283 1q21.1 1 146133559G> C null H D 517 517 missense 0.015 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782150697 1q21.1 1 146133558T> G null H P 517 517 missense 0.236 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782150697 1q21.1 1 146133558T> C null H R 517 517 missense 0.001 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793610 1q21.1 1 146133555A> T null V D 518 518 missense 0.001 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781784765 1q21.1 1 146133556C> A null V F 518 518 missense 0.52 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781784765 1q21.1 1 146133556C> T null V I 518 518 missense 0.173 benign 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793600 1q21.1 1 146133552T> G null E A 519 519 missense 0.939 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793605 1q21.1 1 146133553C> G null E Q 519 519 missense 0.981 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793600 1q21.1 1 146133552T> A null E V 519 519 missense 0.986 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781876934 1q21.1 1 146133548C> T null W * 520 520 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781876934 1q21.1 1 146133548C> A null W C 520 520 missense 0.001 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782484059 1q21.1 1 146133550A> C null W G 520 520 missense 0.001 benign 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782484059 1q21.1 1 146133550A> G null W R 520 520 missense 0.308 benign 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793593 1q21.1 1 146133547C> A null E * 521 521 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793586 1q21.1 1 146133543T> C null D G 522 522 missense 0.438 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793588 1q21.1 1 146133544C> T null D N 522 522 missense 0.438 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587719395 1q21.1 1 146133541C> T null A T 523 523 2.0E-4 missense 0.27 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782696867 1q21.1 1 146133540G> A null A V 523 523 missense 0.338 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782287115 1q21.1 1 146133538C> G null V L 524 524 missense 0.003 benign 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793575 1q21.1 1 146133535G> C null H D 525 525 missense 0.031 benign 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782452643 1q21.1 1 146133534T> G null H P 525 525 missense 0.173 benign 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793571 1q21.1 1 146133533G> C null H Q 525 525 missense 0.131 benign 0.54 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782570821 1q21.1 1 146133532T> C null I V 526 526 missense 0.561 possibly damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs17401718 1q21.1 1 146133527A> C null I M 527 527 missense 0.293 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553793568 1q21.1 1 146133526G> C null P A 528 528 missense 0.996 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782622164 1q21.1 1 146133523C> T null E K 529 529 missense 0.192 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782622164 1q21.1 1 146133523C> G null E Q 529 529 missense 0.266 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553792953 1q21.1 1 146132217C> T null E K 536 536 missense 0.104 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791167 1q21.1 1 146128282C> A null R S 546 546 missense 0.765 possibly damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791164 1q21.1 1 146128277A> G null L P 548 548 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791159 1q21.1 1 146128274T> G null Q P 549 549 missense 0.094 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1428315568 1q21.1 1 146128272C> T null E K 550 550 missense 0.192 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1428315568 1q21.1 1 146128272C> G null E Q 550 550 missense 0.266 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1472834058 1q21.1 1 146128271T> A null E V 550 550 missense 0.266 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791155 1q21.1 1 146128260C> T null E K 554 554 missense 0.003 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791149 1q21.1 1 146128255T> A null E D 555 555 missense 0.801 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791149 1q21.1 1 146128255T> G null E D 555 555 missense 0.801 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs371550307 1q21.1 1 146128257C> T null E K 555 555 missense 0.801 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587618556 1q21.1 1 146128253A> T null V D 556 556 7.99E-4 missense 0.196 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782807637 1q21.1 1 146128254C> A null V F 556 556 missense 0.333 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782807637 1q21.1 1 146128254C> T null V I 556 556 missense 0.253 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587682383 1q21.1 1 146128251G> C null P A 557 557 3.99E-4 missense 0.989 probably damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587682383 1q21.1 1 146128251G> T null P T 557 557 3.99E-4 missense 0.995 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791141 1q21.1 1 146128248G> A null Q * 558 558 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782559643 1q21.1 1 146128247T> A null Q L 558 558 missense 0.607 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791137 1q21.1 1 146128241G> C null S C 560 560 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791137 1q21.1 1 146128241G> A null S F 560 560 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791137 1q21.1 1 146128241G> T null S Y 560 560 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782645877 1q21.1 1 146128237C> T null W * 561 561 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782458827 1q21.1 1 146128239A> G null W R 561 561 missense 0.048 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791130 1q21.1 1 146128234A> T null D E 562 562 missense 0.866 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791131 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146128236C> T null D N 562 562 missense 0.908 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782244073 1q21.1 1 146128230C> G null G R 564 564 missense 0.635 possibly damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1324320575 1q21.1 1 146128229C> A null G V 564 564 missense 0.322 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782672224 1q21.1 1 146128226T> A null Y F 565 565 missense 0.135 benign 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782559024 1q21.1 1 146128227A> G null Y H 565 565 missense 0.546 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587764017 1q21.1 1 146128223G> T null S * 566 566 3.99E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587764017 1q21.1 1 146128223G> A null S L 566 566 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791122 1q21.1 1 146128224A> G null S P 566 566 missense 0.192 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782212711 1q21.1 1 146128217A> G null L P 568 568 missense 0.0 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791117 1q21.1 1 146128218G> C null L V 568 568 missense 0.135 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782714143 1q21.1 1 146128214G> C null S * 569 569 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782147823 1q21.1 1 146128215A> G null S P 569 569 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1241680173 1q21.1 1 146128212T> C null I V 570 570 missense 0.012 benign 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781921828 1q21.1 1 146128209G> C null P A 571 571 missense 0.042 benign 0.67 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791111 1q21.1 1 146128208G> A null P L 571 571 missense 0.024 benign 0.59 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791105 1q21.1 1 146128205G> A null P L 572 572 missense 0.266 benign 0.88 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782095139 1q21.1 1 146128206G> A null P S 572 572 missense 0.139 benign 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791096 1q21.1 1 146128202T> C null E G 573 573 missense 0.104 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782738336 1q21.1 1 146128203C> T null E K 573 573 missense 0.139 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782738336 1q21.1 1 146128203C> G null E Q 573 573 missense 0.266 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587646651 1q21.1 1 146128198C> T null M I 574 574 5.99E-4 missense 0.038 benign 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781863369 1q21.1 1 146128199A> C null M R 574 574 missense 0.06 benign 0.68 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781863369 1q21.1 1 146128199A> G null M T 574 574 missense 0.026 benign 0.69 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791094 1q21.1 1 146128200T> C null M V 574 574 missense 0.015 benign 0.51 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781892545 1q21.1 1 146128193G> C null A G 576 576 missense 0.866 possibly damaging 0.59 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1490712846 1q21.1 1 146128194C> G null A P 576 576 missense 0.958 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781892545 1q21.1 1 146128193G> A null A V 576 576 missense 0.866 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782463475 1q21.1 1 146128190G> A null S L 577 577 missense 0.001 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791084 1q21.1 1 146128186G> C null Y * 578 578 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782227122 1q21.1 1 146128187T> C null Y C 578 578 missense 0.617 possibly damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791080 1q21.1 1 146128183C> A null Q H 579 579 missense 0.551 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587702149 1q21.1 1 146128185G> T null Q K 579 579 5.99E-4 missense 0.065 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791081 1q21.1 1 146128184T> G null Q P 579 579 missense 0.331 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791077 1q21.1 1 146128178T> C null Y C 581 581 missense 0.966 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791077 1q21.1 1 146128178T> G null Y S 581 581 missense 0.934 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1361955583 1q21.1 1 146128175C> T null S N 582 582 missense 0.001 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782244430 1q21.1 1 146128174G> T null S R 582 582 missense 0.0 benign 0.92 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1361955583 1q21.1 1 146128175C> G null S T 582 582 missense 0.0 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs3872129 1q21.1 1 146128173T> C null S G 583 583 missense 0.022 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781933218 1q21.1 1 146128172C> A null S I 583 583 missense 0.18 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781933218 1q21.1 1 146128172C> T null S N 583 583 missense 0.0 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791073 1q21.1 1 146128169G> C null T R 584 584 missense 0.192 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791070 1q21.1 1 146128165A> T null F L 585 585 missense 0.038 benign 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782180275 1q21.1 1 146128164G> C null H D 586 586 missense 0.041 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791066 1q21.1 1 146128163T> C null H R 586 586 missense 0.06 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791053 1q21.1 1 146128158A> T null L I 588 588 missense 0.135 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782359043 1q21.1 1 146128157A> G null L S 588 588 missense 0.01 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782127572 1q21.1 1 146128154T> C null E G 589 589 missense 0.427 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781950672 1q21.1 1 146128155C> G null E Q 589 589 missense 0.427 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782751843 1q21.1 1 146128149G> T null Q K 591 591 missense 0.071 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782030637 1q21.1 1 146128146G> T null Q K 592 592 missense 0.003 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791036 1q21.1 1 146128142A> G null V A 593 593 missense 0.329 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791036 1q21.1 1 146128142A> T null V D 593 593 missense 0.85 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782716059 1q21.1 1 146128139C> A null C F 594 594 missense 0.0 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791033 1q21.1 1 146128140A> T null C S 594 594 missense 0.0 benign 0.73 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782716059 1q21.1 1 146128139C> G null C S 594 594 missense 0.0 benign 0.73 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791029 1q21.1 1 146128135C> T null M I 595 595 missense 0.0 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781792726 1q21.1 1 146128137T> A null M L 595 595 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781792726 1q21.1 1 146128137T> C null M V 595 595 missense 0.0 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791025 1q21.1 1 146128133G> T null A D 596 596 missense 0.683 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553791027 1q21.1 1 146128134C> G null A P 596 596 missense 0.683 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782490068 1q21.1 1 146128127T> C null D G 598 598 missense 0.908 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782736197 1q21.1 1 146128125T> C null I V 599 599 missense 0.003 benign 0.45 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781875578 1q21.1 1 146128122C> G null G R 600 600 missense 0.455 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782517559 1q21.1 1 146128121C> A null G V 600 600 missense 0.197 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs9424730 1q21.1 1 146128119T> C null R G 601 601 missense 0.291 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782818272 1q21.1 1 146127079C> T null R K 601 601 missense 0.14 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782818272 1q21.1 1 146127079C> G null R T 601 601 missense 0.402 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782612923 1q21.1 1 146127076T> A null H L 602 602 missense 0.06 benign 0.68 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782523337 1q21.1 1 146127075A> T null H Q 602 602 missense 0.06 benign 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782612923 1q21.1 1 146127076T> C null H R 602 602 missense 0.06 benign 0.46 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782461629 1q21.1 1 146127077G> A null H Y 602 602 missense 0.06 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782618580 1q21.1 1 146127074G> C null R G 603 603 missense 0.0 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782400929 1q21.1 1 146127073C> G null R P 603 603 missense 0.005 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782400929 1q21.1 1 146127073C> T null R Q 603 603 missense 0.0 benign 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782618580 1q21.1 1 146127074G> A null R W 603 603 missense 0.049 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782127814 1q21.1 1 146127069C> T null W * 604 604 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781951418 1q21.1 1 146127070C> T null W * 604 604 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782362826 1q21.1 1 146127071A> C null W G 604 604 missense 0.0 benign 0.41 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782362826 1q21.1 1 146127071A> T null W R 604 604 missense 0.0 benign 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553790439 1q21.1 1 146127067T> C null D G 605 605 missense 0.908 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782386394 1q21.1 1 146127068C> G null D H 605 605 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782386394 1q21.1 1 146127068C> T null D N 605 605 missense 0.908 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782386394 1q21.1 1 146127068C> A null D Y 605 605 missense 0.979 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782036672 1q21.1 1 146127065G> C null Q E 606 606 missense 0.028 benign 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782036672 1q21.1 1 146127065G> T null Q K 606 606 missense 0.06 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782717598 1q21.1 1 146127064T> G null Q P 606 606 missense 0.094 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782717598 1q21.1 1 146127064T> C null Q R 606 606 missense 0.094 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781833339 1q21.1 1 146127062C> G null V L 607 607 missense 0.621 possibly damaging 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781833339 1q21.1 1 146127062C> T null V M 607 607 missense 0.934 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553790430 1q21.1 1 146127059T> C null K E 608 608 missense 0.135 benign 0.72 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781848534 1q21.1 1 146127058T> C null K R 608 608 missense 0.135 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781848534 1q21.1 1 146127058T> G null K T 608 608 missense 0.003 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1176279291 1q21.1 1 146127054C> G null K N 609 609 missense 0.607 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781804235 1q21.1 1 146127051C> G null E D 610 610 missense 0.003 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782674597 1q21.1 1 146127053C> T null E K 610 610 missense 0.003 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782390963 1q21.1 1 146127049T> G null D A 611 611 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782628009 1q21.1 1 146127048G> C null D E 611 611 missense 0.866 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782628009 1q21.1 1 146127048G> T null D E 611 611 missense 0.866 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782622500 1q21.1 1 146127050C> T null D N 611 611 missense 0.908 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782622500 1q21.1 1 146127050C> A null D Y 611 611 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781944053 1q21.1 1 146127047G> A null Q * 612 612 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781944053 1q21.1 1 146127047G> C null Q E 612 612 missense 0.003 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782110002 1q21.1 1 146127042C> G null E D 613 613 missense 0.801 possibly damaging 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782339964 1q21.1 1 146127044C> T null E K 613 613 missense 0.801 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782339964 1q21.1 1 146127044C> G null E Q 613 613 missense 0.859 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781999712 1q21.1 1 146127043T> A null E V 613 613 missense 0.895 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782065591 1q21.1 1 146127040G> T null A E 614 614 missense 0.932 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782806168 1q21.1 1 146127041C> A null A S 614 614 missense 0.866 possibly damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782806168 1q21.1 1 146127041C> T null A T 614 614 missense 0.908 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782065591 1q21.1 1 146127040G> A null A V 614 614 missense 0.866 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781836203 1q21.1 1 146127038T> C null T A 615 615 missense 0.087 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553790420 1q21.1 1 146127037G> T null T K 615 615 missense 0.192 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782558854 1q21.1 1 146127034C> G null G A 616 616 missense 0.373 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782652717 1q21.1 1 146127035C> A null G C 616 616 missense 0.062 benign 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782558854 1q21.1 1 146127034C> T null G D 616 616 missense 0.219 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782652717 1q21.1 1 146127035C> T null G S 616 616 missense 0.17 benign 0.84 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782259882 1q21.1 1 146127031G> T null P H 617 617 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782259882 1q21.1 1 146127031G> A null P L 617 617 missense 0.97 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782315180 1q21.1 1 146127032G> A null P S 617 617 missense 0.523 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782315180 1q21.1 1 146127032G> T null P T 617 617 missense 0.937 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782030059 1q21.1 1 146127029T> C null R G 618 618 missense 0.333 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782281015 1q21.1 1 146127028C> A null R M 618 618 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782281015 1q21.1 1 146127028C> G null R T 618 618 missense 0.003 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1436913640 1q21.1 1 146126407G> A null L F 619 619 missense 0.199 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1436913640 1q21.1 1 146126407G> T null L I 619 619 missense 0.409 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1436913640 1q21.1 1 146126407G> C null L V 619 619 missense 0.333 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782120049 1q21.1 1 146126403C> A null S I 620 620 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782120049 1q21.1 1 146126403C> T null S N 620 620 missense 0.986 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782120049 1q21.1 1 146126403C> G null S T 620 620 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1375259945 1q21.1 1 146126400C> T null R K 621 621 missense 0.159 benign 0.41 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782064835 1q21.1 1 146126399C> A null R S 621 621 missense 0.061 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1375259945 1q21.1 1 146126400C> G null R T 621 621 missense 0.185 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587673798 1q21.1 1 146126396C> G null E D 622 622 2.0E-4 missense 0.122 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587610321 1q21.1 1 146126398C> T null E K 622 622 2.0E-4 missense 0.185 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782658194 1q21.1 1 146126395G> C null L V 623 623 missense 0.138 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587726130 1q21.1 1 146126392G> T null L M 624 624 2.0E-4 missense 0.708 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782581003 1q21.1 1 146126391A> G null L P 624 624 missense 0.609 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789974 1q21.1 1 146126387A> T null D E 625 625 missense 0.388 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1485256899 1q21.1 1 146126388T> C null D G 625 625 missense 0.208 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1277920966 1q21.1 1 146126389C> G null D H 625 625 missense 0.77 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1485256899 1q21.1 1 146126388T> A null D V 625 625 missense 0.006 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1277920966 1q21.1 1 146126389C> A null D Y 625 625 missense 0.491 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1243779253 1q21.1 1 146126384C> G null E D 626 626 missense 0.183 benign 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1217173229 1q21.1 1 146126385T> C null E G 626 626 missense 0.137 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789972 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146126386C> T null E K 626 626 missense 0.268 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553789955 1q21.1 1 146126382T> A null K I 627 627 missense 0.333 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,TOPMed,gnomAD rs146118679 1q21.1 1 146126379C> T null G E 628 628 missense 0.108 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1484910967 1q21.1 1 146126380C> G null G R 628 628 missense 0.355 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,TOPMed,gnomAD rs146118679 1q21.1 1 146126379C> A null G V 628 628 missense 0.77 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1484910967 1q21.1 1 146126380C> A null G W 628 628 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1172077201 1q21.1 1 146126376G> C null P R 629 629 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1455719392 1q21.1 1 146126377G> T null P T 629 629 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782171304 1q21.1 1 146126372T> G null E D 630 630 missense 0.388 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789943 1q21.1 1 146126374C> G null E Q 630 630 missense 0.388 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs148808255 1q21.1 1 146126370A> T null V D 631 631 0.006989 missense 0.185 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1343975192 1q21.1 1 146126371C> A null V F 631 631 missense 0.134 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1343975192 1q21.1 1 146126371C> T null V I 631 631 missense 0.208 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1343975192 1q21.1 1 146126371C> G null V L 631 631 missense 0.031 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782257154 1q21.1 1 146126367A> T null L * 632 632 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs12135693 1q21.1 1 146126366C> A null L F 632 632 0.01977 missense 0.574 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs12135693 1q21.1 1 146126366C> G null L F 632 632 0.01977 missense 0.574 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782257154 1q21.1 1 146126367A> G null L S 632 632 missense 0.011 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1371179920 1q21.1 1 146126368A> C null L V 632 632 missense 0.244 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782257154 1q21.1 1 146126367A> C null L W 632 632 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789926 1q21.1 1 146126365G> A null Q * 633 633 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1346794631 1q21.1 1 146126363C> A null Q H 633 633 missense 0.6 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789926 1q21.1 1 146126365G> T null Q K 633 633 missense 0.017 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782281352 1q21.1 1 146126360G> C null D E 634 634 missense 0.017 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782037520 1q21.1 1 146126362C> T null D N 634 634 missense 0.236 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782333643 1q21.1 1 146126359A> C null S A 635 635 missense 0.009 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782333643 1q21.1 1 146126359A> G null S P 635 635 missense 0.513 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781925252 1q21.1 1 146126356G> A null Q * 636 636 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,TOPMed,gnomAD rs587773799 1q21.1 1 146126354C> A null Q H 636 636 3.99E-4 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,TOPMed,gnomAD rs587773799 1q21.1 1 146126354C> G null Q H 636 636 3.99E-4 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781925252 1q21.1 1 146126356G> T null Q K 636 636 missense 0.043 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs58277049 1q21.1 1 146126355T> A null Q L 636 636 missense 0.001 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553662490 1q21.1 1 146126353C> T null D N 637 637 missense 0.728 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs782634669 1q21.1 1 146126352T> A null D V 637 637 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553662490 1q21.1 1 146126353C> A null D Y 637 637 missense 0.934 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782008778 1q21.1 1 146126349C> G null R T 638 638 missense 0.402 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789919 1q21.1 1 146126347A> T null C S 639 639 missense 0.0 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782160303 1q21.1 1 146126346C> T null C Y 639 639 missense 0.07 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782788361 1q21.1 1 146126343T> A null Y F 640 640 missense 0.68 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789914 1q21.1 1 146126344A> G null Y H 640 640 missense 0.887 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782788361 1q21.1 1 146126343T> G null Y S 640 640 missense 0.887 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782431279 1q21.1 1 146126340G> T null S * 641 641 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782431279 1q21.1 1 146126340G> C null S * 641 641 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782431279 1q21.1 1 146126340G> A null S L 641 641 missense 0.838 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781819096 1q21.1 1 146126338T> C null T A 642 642 missense 0.764 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1166186875 1q21.1 1 146126337G> A null T I 642 642 missense 0.923 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781819096 1q21.1 1 146126338T> G null T P 642 642 missense 0.923 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587689248 1q21.1 1 146126334G> T null P H 643 643 2.0E-4 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587689248 1q21.1 1 146126334G> C null P R 643 643 2.0E-4 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs587635463 1q21.1 1 146126335G> T null P T 643 643 2.0E-4 missense 0.954 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1323425446 1q21.1 1 146126331G> C null S * 644 644 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782539120 1q21.1 1 146126328C> G null G A 645 645 missense 0.431 benign 0.91 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782539120 1q21.1 1 146126328C> T null G D 645 645 missense 0.281 benign 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587757195 1q21.1 1 146126329C> G null G R 645 645 2.0E-4 missense 0.617 possibly damaging 0.46 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587757195 1q21.1 1 146126329C> T null G S 645 645 2.0E-4 missense 0.087 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs184819447 1q21.1 1 146126325C> G null C S 646 646 missense 0.094 benign 0.81 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs184819447 1q21.1 1 146126325C> T null C Y 646 646 missense 0.01 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587712953 1q21.1 1 146126320C> A null E * 648 648 3.99E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587712953 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146126320C> G null E Q 648 648 3.99E-4 missense 0.885 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782384592 1q21.1 1 146126317G> T null L M 649 649 missense 0.185 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782008533 1q21.1 1 146126316A> T null L Q 649 649 missense 0.891 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587642589 1q21.1 1 146126313G> T null T N 650 650 2.0E-4 missense 0.003 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782766407 1q21.1 1 146126310T> G null D A 651 651 missense 0.122 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781854682 1q21.1 1 146126309G> T null D E 651 651 missense 0.006 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782766407 1q21.1 1 146126310T> C null D G 651 651 missense 0.236 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782081627 1q21.1 1 146126311C> T null D N 651 651 missense 0.236 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782543689 1q21.1 1 146126308A> C null S A 652 652 missense 0.061 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782543689 1q21.1 1 146126308A> T null S T 652 652 missense 0.031 benign 0.66 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782809264 1q21.1 1 146126305A> G null C R 653 653 missense 0.3 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781809836 1q21.1 1 146126304C> G null C S 653 653 missense 0.018 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782809264 1q21.1 1 146126305A> T null C S 653 653 missense 0.018 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781809836 1q21.1 1 146126304C> T null C Y 653 653 missense 0.491 possibly damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782443316 1q21.1 1 146126300C> G null Q H 654 654 missense 0.006 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789891 1q21.1 1 146126302G> T null Q K 654 654 missense 0.061 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587601446 1q21.1 1 146126298G> A null P L 655 655 2.0E-4 missense 0.64 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587601446 1q21.1 1 146126298G> C null P R 655 655 2.0E-4 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1420689425 1q21.1 1 146126299G> T null P T 655 655 missense 0.784 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782632300 1q21.1 1 146126294G> T null Y * 656 656 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781827018 1q21.1 1 146126296A> C null Y D 656 656 missense 0.236 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782528969 1q21.1 1 146126295T> A null Y F 656 656 missense 0.388 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1410177651 1q21.1 1 146126293T> C null R G 657 657 missense 0.113 benign 0.41 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782268336 1q21.1 1 146126292C> T null R K 657 657 missense 0.006 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782268336 1q21.1 1 146126292C> G null R T 657 657 missense 0.122 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782574247 1q21.1 1 146126289C> A null S I 658 658 missense 0.395 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1352484116 1q21.1 1 146126288A> C null S R 658 658 missense 0.017 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782574247 1q21.1 1 146126289C> G null S T 658 658 missense 0.159 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782224083 1q21.1 1 146126286G> T null A D 659 659 missense 0.333 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782224083 1q21.1 1 146126286G> C null A G 659 659 missense 0.333 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1293782080 1q21.1 1 146126287C> G null A P 659 659 missense 0.513 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1293782080 1q21.1 1 146126287C> A null A S 659 659 missense 0.183 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1293782080 1q21.1 1 146126287C> T null A T 659 659 missense 0.333 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1437565931 1q21.1 1 146126283A> C null F C 660 660 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587677785 1q21.1 1 146126284A> T null F I 660 660 0.001398 missense 0.561 possibly damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587677785 1q21.1 1 146126284A> G null F L 660 660 0.001398 missense 0.122 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782116690 1q21.1 1 146126282A> T null F L 660 660 missense 0.122 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200993154 1q21.1 1 146126280T> C null Y C 661 661 missense 0.77 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587713584 1q21.1 1 146126281A> C null Y D 661 661 2.0E-4 missense 0.208 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587713584 1q21.1 1 146126281A> G null Y H 661 661 2.0E-4 missense 0.044 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782090466 1q21.1 1 146126276T> C null I M 662 662 missense 0.424 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs76836566 1q21.1 1 146126278T> C null I V 662 662 missense 0.001 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782551909 1q21.1 1 146126274A> T null L * 663 663 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587596492 1q21.1 1 146126273C> A null L F 663 663 2.0E-4 missense 0.979 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782551909 1q21.1 1 146126274A> G null L S 663 663 missense 0.706 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782493155 1q21.1 1 146126272C> A null E * 664 664 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587667732 1q21.1 1 146126270C> G null E D 664 664 3.99E-4 missense 0.333 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782493155 1q21.1 1 146126272C> T null E K 664 664 missense 0.009 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782493155 1q21.1 1 146126272C> G null E Q 664 664 missense 0.038 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782683558 1q21.1 1 146126269G> A null Q * 665 665 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782683558 1q21.1 1 146126269G> C null Q E 665 665 missense 0.009 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782683558 1q21.1 1 146126269G> T null Q K 665 665 missense 0.027 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789866 1q21.1 1 146126268T> C null Q R 665 665 missense 0.082 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789863 1q21.1 1 146126266G> C null Q E 666 666 missense 0.517 possibly damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789863 1q21.1 1 146126266G> T null Q K 666 666 missense 0.517 possibly damaging 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782324086 1q21.1 1 146126265T> G null Q P 666 666 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782324086 1q21.1 1 146126265T> C null Q R 666 666 missense 0.956 probably damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200450624 1q21.1 1 146126263G> A null R C 667 667 missense 0.007 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200450624 1q21.1 1 146126263G> C null R G 667 667 missense 0.328 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs3930826 1q21.1 1 146126262C> T null R H 667 667 3.99E-4 missense 0.615 possibly damaging 0.93 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs3930826 1q21.1 1 146126262C> A null R L 667 667 3.99E-4 missense 0.001 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs3930826 1q21.1 1 146126262C> G null R P 667 667 3.99E-4 missense 0.541 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200450624 1q21.1 1 146126263G> T null R S 667 667 missense 0.246 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1312216730 1q21.1 1 146126259A> G null V A 668 668 missense 0.01 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1312216730 1q21.1 1 146126259A> T null V D 668 668 missense 0.185 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782818140 1q21.1 1 146126260C> T null V I 668 668 missense 0.022 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782818140 1q21.1 1 146126260C> G null V L 668 668 missense 0.006 benign 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782733370 1q21.1 1 146126256C> G null G A 669 669 missense 0.882 possibly damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782733370 1q21.1 1 146126256C> T null G D 669 669 missense 0.983 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1229741450 1q21.1 1 146126257C> T null G S 669 669 missense 0.92 probably damaging 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782733370 1q21.1 1 146126256C> A null G V 669 669 missense 0.882 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587680392 1q21.1 1 146126252C> G null L F 670 670 7.99E-4 missense 0.005 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782761599 1q21.1 1 146126254A> T null L M 670 670 missense 0.708 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782761599 1q21.1 1 146126254A> C null L V 670 670 missense 0.268 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs373313478 1q21.1 1 146126250G> T null A D 671 671 missense 0.782 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs373313478 1q21.1 1 146126250G> C null A G 671 671 missense 0.506 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789854 1q21.1 1 146126251C> G null A P 671 671 missense 0.782 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789854 1q21.1 1 146126251C> T null A T 671 671 missense 0.409 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs4098126 1q21.1 1 146126248T> A null I F 672 672 missense 0.242 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1210720581 1q21.1 1 146126247A> G null I T 672 672 missense 0.062 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs4098126 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146126248T> C null I V 672 672 missense 0.001 benign 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782597872 1q21.1 1 146126243G> C null D E 673 673 missense 0.085 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782597872 1q21.1 1 146126243G> T null D E 673 673 missense 0.085 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782498971 1q21.1 1 146126245C> G null D H 673 673 missense 0.6 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782498971 1q21.1 1 146126245C> T null D N 673 673 missense 0.003 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782498971 1q21.1 1 146126245C> A null D Y 673 673 missense 0.689 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782305840 1q21.1 1 146126240C> T null M I 674 674 missense 0.006 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782305840 1q21.1 1 146126240C> A null M I 674 674 missense 0.006 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782289264 1q21.1 1 146126241A> C null M R 674 674 missense 0.0 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782289264 1q21.1 1 146126241A> G null M T 674 674 missense 0.012 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782043442 1q21.1 1 146126242T> C null M V 674 674 missense 0.001 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781966051 1q21.1 1 146126239C> G null D H 675 675 missense 0.6 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781966051 1q21.1 1 146126239C> T null D N 675 675 missense 0.017 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782787832 1q21.1 1 146126238T> A null D V 675 675 missense 0.3 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781966051 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146126239C> A null D Y 675 675 missense 0.689 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789523 1q21.1 1 146125516T> G null E A 676 676 missense 0.061 benign 0.12 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789523 1q21.1 1 146125516T> C null E G 676 676 missense 0.159 benign 0.21 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781981061 1q21.1 1 146126236C> T null E K 676 676 missense 0.006 benign 0.51 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1314475434 1q21.1 1 146125513A> G null I T 677 677 missense 0.031 benign 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1338435971 1q21.1 1 146125510T> C null E G 678 678 missense 0.094 benign 0.02 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789512 1q21.1 1 146125511C> T null E K 678 678 missense 0.017 benign 0.88 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1244949599 1q21.1 1 146125508T> C null K E 679 679 missense 0.646 possibly damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789508 1q21.1 1 146125507T> C null K R 679 679 missense 0.961 probably damaging 0.08 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789499 1q21.1 1 146125504T> C null Y C 680 680 missense 0.273 benign 0.19 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789500 1q21.1 1 146125505A> C null Y D 680 680 missense 0.931 probably damaging 0.89 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs61816398 1q21.1 1 146125502G> A null Q * 681 681 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs61816398 1q21.1 1 146125502G> C null Q E 681 681 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs61816398 1q21.1 1 146125502G> T null Q K 681 681 missense 0.017 benign 0.12 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1203007854 1q21.1 1 146125501T> C null Q R 681 681 missense 0.122 benign 0.06 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1483637824 1q21.1 1 146125495A> T null V E 683 683 missense 0.491 possibly damaging 1.0 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1250774639 1q21.1 1 146125496C> T null V M 683 683 missense 0.134 benign 0.04 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1254309732 1q21.1 1 146125492T> G null E A 684 684 missense 0.828 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1202342998 1q21.1 1 146125493C> T null E K 684 684 missense 0.828 possibly damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782345277 1q21.1 1 146125486T> A null D V 686 686 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs192293322 1q21.1 1 146125487C> A null D Y 686 686 0.01178 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789464 1q21.1 1 146125484G> A null Q * 687 687 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1448136810 1q21.1 1 146125479G> T null D E 688 688 missense 0.388 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789461 1q21.1 1 146125481C> G null D H 688 688 missense 0.77 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789455 1q21.1 1 146125477G> A null P L 689 689 missense 0.236 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs200946158 1q21.1 1 146125478G> T null P T 689 689 0.1018 missense 0.159 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789453 1q21.1 1 146125475A> G null S P 690 690 missense 0.119 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789445 1q21.1 1 146125468G> A null P L 692 692 missense 0.003 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789447 1q21.1 1 146125469G> A null P S 692 692 missense 0.3 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789216 1q21.1 1 146124860C> A null R S 693 693 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs371537570 1q21.1 1 146124840T> G null D A 700 700 missense 0.024 benign 0.11 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789213 1q21.1 1 146124831T> C null E G 703 703 missense 0.388 benign 0.19 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789210 1q21.1 1 146124823C> G null V L 706 706 missense 0.159 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789208 1q21.1 1 146124817G> C null Q E 708 708 missense 0.037 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789204 1q21.1 1 146124815C> G null Q H 708 708 missense 0.689 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1295982720 1q21.1 1 146124812G> C null D E 709 709 missense 0.006 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs376120684 1q21.1 1 146124811A> G null S P 710 710 missense 0.044 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs368148853 1q21.1 1 146124804T> C null D G 712 712 missense 0.236 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1395313115 1q21.1 1 146124798C> A null C F 714 714 missense 0.491 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1395313115 1q21.1 1 146124798C> T null C Y 714 714 missense 0.388 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782023347 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146124796A> G null Y H 715 715 missense 0.64 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789187 1q21.1 1 146124792G> A null S L 716 716 missense 0.348 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs202020927 1q21.1 1 146124789G> A null T I 717 717 missense 0.006 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789178 1q21.1 1 146124757C> G null G R 728 728 missense 0.003 benign 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789169 1q21.1 1 146124744C> T null S N 732 732 missense 0.333 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs199867293 1q21.1 1 146124743G> T null S R 732 732 missense 0.005 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs200629021 1q21.1 1 146124733A> G null Y H 736 736 missense 0.031 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789163 1q21.1 1 146124702G> T null A D 746 746 missense 0.685 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1396310022 1q21.1 1 146124695G> T null D E 748 748 missense 0.261 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789160 1q21.1 1 146124694C> T null V M 749 749 missense 0.703 possibly damaging 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs77013622 1q21.1 1 146123975A> G null I T 752 752 missense 0.003 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789067 1q21.1 1 146123965G> C null D E 755 755 missense 0.122 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1480493633 1q21.1 1 146123966T> C null D G 755 755 missense 0.061 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1260389223 1q21.1 1 146123967C> G null D H 755 755 missense 0.77 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs201465346 1q21.1 1 146123964G> C null Q E 756 756 missense 0.031 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1426734607 1q21.1 1 146123963T> C null Q R 756 756 missense 0.583 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1469031882 1q21.1 1 146123959T> G null E D 757 757 missense 0.3 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1159549436 1q21.1 1 146123958C> G null E Q 758 758 missense 0.01 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1346748943 1q21.1 1 146123953T> G null E D 759 759 missense 0.236 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1451487416 1q21.1 1 146123951T> C null E G 760 760 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1346127910 1q21.1 1 146123949C> T null D N 761 761 missense 0.333 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1346127910 1q21.1 1 146123949C> A null D Y 761 761 missense 0.782 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553789057 1q21.1 1 146123945T> A null Q L 762 762 missense 0.0 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs879221975 1q21.1 1 146123942C> T null G D 763 763 missense 0.017 benign 0.71 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1281525434 1q21.1 1 146123943C> G null G R 763 763 missense 0.786 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1281525434 1q21.1 1 146123943C> T null G S 763 763 missense 0.281 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1224557760 1q21.1 1 146123940G> A null P S 764 764 missense 0.085 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs80044933 1q21.1 1 146123933C> A null C F 766 766 missense 0.931 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs879211639 1q21.1 1 146123931G> A null P S 767 767 missense 0.969 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1349504655 1q21.1 1 146123262G> C null L V 774 774 missense 0.013 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1443221908 1q21.1 1 146123255A> G null V A 776 776 missense 0.061 benign 0.43 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1300196845 1q21.1 1 146123252A> G null V A 777 777 missense 0.316 benign 0.69 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1375188108 1q21.1 1 146123249T> G null E A 778 778 missense 0.037 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788796 1q21.1 1 146123250C> G null E Q 778 778 missense 0.3 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788793 1q21.1 1 146123236C> G null L F 782 782 missense 0.713 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1446638690 1q21.1 1 146123221A> T null D E 787 787 missense 0.028 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782128425 1q21.1 1 146123192A> G null L P 797 797 missense 0.971 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788790 1q21.1 1 146123190C> G null E Q 798 798 missense 0.428 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1362276484 1q21.1 1 146123171T> A null Q L 804 804 missense 0.659 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788784 1q21.1 1 146123165T> G null Y S 806 806 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1229536841 1q21.1 1 146123152A> C null F L 810 810 missense 0.825 possibly damaging 0.68 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1287144205 1q21.1 1 146123150T> G null Y S 811 811 missense 0.318 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788778 1q21.1 1 146123142C> G null E Q 814 814 missense 0.946 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1204812372 1q21.1 1 146123139C> T null E K 815 815 missense 0.915 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1252799038 1q21.1 1 146123134T> G null K N 816 816 missense 0.318 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788777 1q21.1 1 146123133G> C null H D 817 817 missense 0.236 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788774 1q21.1 1 146123112C> T null V M 824 824 missense 0.872 possibly damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1177514353 1q21.1 1 146122338C> T null E K 844 844 missense 0.879 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1413213162 1q21.1 1 146122307T> C null E G 854 854 missense 0.274 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553788644 1q21.1 1 146121669G> A null L F 863 863 missense 0.734 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1235936377 1q21.1 1 146121665C> T null S N 864 864 missense 0.943 probably damaging 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1254760607 1q21.1 1 146121657G> C null L V 867 867 missense 0.014 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788641 1q21.1 1 146121649A> T null D E 869 869 missense 0.033 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1483240775 1q21.1 1 146121646C> G null E D 870 870 missense 0.343 benign 0.58 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs199534911 1q21.1 1 146121641C> T null G E 872 872 missense 0.015 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1489043544 1q21.1 1 146121620G> A null S L 879 879 missense 0.822 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1191092878 1q21.1 1 146121617A> T null L Q 880 880 missense 0.565 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788636 1q21.1 1 146121618G> C null L V 880 880 missense 0.956 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1422539146 1q21.1 1 146121611C> A null R I 882 882 missense 0.657 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1375849170 1q21.1 1 146121607A> C null C W 883 883 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1178048094 1q21.1 1 146121608C> T null C Y 883 883 missense 0.141 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs200957493 1q21.1 1 146121605T> G null Y S 884 884 missense 0.033 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1159262552 1q21.1 1 146121596G> A null P L 887 887 missense 0.115 benign 0.64 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1362576350 1q21.1 1 146121587C> T null C Y 890 890 missense 0.657 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1398335615 1q21.1 1 146121585G> C null L V 891 891 missense 0.579 possibly damaging 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1297783799 1q21.1 1 146121582C> G null E Q 892 892 missense 0.557 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1388872652 1q21.1 1 146121576T> G null T P 894 894 missense 0.006 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1388872652 1q21.1 1 146121576T> A null T S 894 894 missense 0.085 benign 0.77 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1299657693 1q21.1 1 146121575G> C null T S 894 894 missense 0.085 benign 0.77 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1240426850 1q21.1 1 146121563T> G null Q P 898 898 missense 0.681 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1286046387 1q21.1 1 146121554C> G null R T 901 901 missense 0.805 possibly damaging 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788626 1q21.1 1 146121545A> C null F C 904 904 missense 0.869 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1262015794 1q21.1 1 146121531G> T null Q K 909 909 missense 0.033 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1488637441 1q21.1 1 146121525G> A null R C 911 911 missense 0.015 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1265008437 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146121524C> T null R H 911 911 missense 0.046 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1265008437 1q21.1 1 146121524C> A null R L 911 911 missense 0.266 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1432489891 1q21.1 1 146121522C> A null V F 912 912 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1159208347 1q21.1 1 146121516A> T null F I 914 914 missense 0.054 benign 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1382137118 1q21.1 1 146121514G> C null F L 914 914 missense 0.001 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs201757460 1q21.1 1 146121512G> T null A D 915 915 missense 0.794 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1158181601 1q21.1 1 146121513C> G null A P 915 915 missense 0.937 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1158181601 1q21.1 1 146121513C> T null A T 915 915 missense 0.588 possibly damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1367385036 1q21.1 1 146121510A> T null F I 916 916 missense 0.014 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1367385036 1q21.1 1 146121510A> G null F L 916 916 missense 0.007 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1367385036 1q21.1 1 146121510A> C null F V 916 916 missense 0.001 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553788440 1q21.1 1 146120773A> G null I T 921 921 missense 0.433 benign 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1438647485 1q21.1 1 146120766C> A null K N 923 923 missense 0.946 probably damaging 0.97 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1438647485 1q21.1 1 146120766C> G null K N 923 923 missense 0.946 probably damaging 0.97 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1323974135 1q21.1 1 146120767T> C null K R 923 923 missense 0.915 probably damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553788437 1q21.1 1 146120762G> T null Q K 925 925 missense 0.019 benign 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1325254133 1q21.1 1 146120755A> G null V A 927 927 missense 0.207 benign 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1241351029 1q21.1 1 146120751T> G null E D 928 928 missense 0.878 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1229194978 1q21.1 1 146120749T> G null E A 929 929 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1229194978 1q21.1 1 146120749T> C null E G 929 929 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1278001442 1q21.1 1 146120750C> T null E K 929 929 missense 0.915 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1467496746 1q21.1 1 146120730G> T null C * 935 935 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1275467076 1q21.1 1 146120732A> T null C S 935 935 missense 0.824 possibly damaging 0.51 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788431 1q21.1 1 146120731C> T null C Y 935 935 missense 0.942 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788428 1q21.1 1 146120728G> T null P H 936 936 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788428 1q21.1 1 146120728G> C null P R 936 936 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788255 1q21.1 1 146120101T> G null K N 946 946 missense 0.946 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788252 1q21.1 1 146120057G> A null T I 961 961 missense 0.024 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs200181602 1q21.1 1 146120043G> C null L V 966 966 missense 0.011 benign 0.52 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs782673727 1q21.1 1 146120025C> G null G R 972 972 missense 0.998 probably damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788250 1q21.1 1 146120015T> C null Y C 975 975 missense 0.988 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs201031595 1q21.1 1 146120011G> T null S R 976 976 missense 0.92 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788249 1q21.1 1 146120001A> G null Y H 980 980 missense 0.006 benign 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788043 1q21.1 1 146119243A> G null I T 996 996 missense 0.007 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1177919675 1q21.1 1 146119237T> A null K M 998 998 missense 0.915 probably damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1177919675 1q21.1 1 146119237T> C null K R 998 998 missense 0.195 benign 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1417582628 1q21.1 1 146119233G> C null D E 999 999 missense 0.99 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788037 1q21.1 1 146119234T> C null D G 999 999 missense 0.554 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs201664136 1q21.1 1 146119232C> G null E Q 1000 1000 missense 0.03 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1418990573 1q21.1 1 146119228T> C null E G 1001 1001 missense 0.985 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788023 1q21.1 1 146119226C> T null E K 1002 1002 missense 0.37 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1163390502 1q21.1 1 146119217C> G null D H 1005 1005 missense 0.749 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1163390502 1q21.1 1 146119217C> A null D Y 1005 1005 missense 0.657 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782658874 1q21.1 1 146119210T> C null D G 1007 1007 missense 0.001 benign 0.97 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553788008 1q21.1 1 146119201C> A null C F 1010 1010 missense 0.047 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553788005 1q21.1 1 146119199G> A null P S 1011 1011 missense 0.872 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787782 1q21.1 1 146118537C> A null S I 1014 1014 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787780 1q21.1 1 146118534C> A null R M 1015 1015 missense 0.996 probably damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787780 1q21.1 1 146118534C> G null R T 1015 1015 missense 0.977 probably damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782265903 1q21.1 1 146118526G> C null L V 1018 1018 missense 0.018 benign 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782377919 1q21.1 1 146118519A> G null V A 1020 1020 missense 0.072 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787771 1q21.1 1 146118520C> A null V L 1020 1020 missense 0.13 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782689341 1q21.1 1 146118516A> G null V A 1021 1021 missense 0.308 benign 0.53 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787770 1q21.1 1 146118517C> T null V I 1021 1021 missense 0.579 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787764 1q21.1 1 146118513T> G null E A 1022 1022 missense 0.763 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787763 1q21.1 1 146118505C> T null V I 1025 1025 missense 0.952 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787762 1q21.1 1 146118500C> A null L F 1026 1026 missense 0.877 possibly damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787761 1q21.1 1 146118499G> A null Q * 1027 1027 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787760 1q21.1 1 146118498T> A null Q L 1027 1027 missense 0.681 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787760 1q21.1 1 146118498T> C null Q R 1027 1027 missense 0.977 probably damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787755 1q21.1 1 146118494G> C null D E 1028 1028 missense 0.011 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787757 1q21.1 1 146118496C> T null D N 1028 1028 missense 0.381 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787751 1q21.1 1 146118489A> C null L R 1030 1030 missense 0.557 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787754 1q21.1 1 146118490G> C null L V 1030 1030 missense 0.46 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787750 1q21.1 1 146118487C> A null D Y 1031 1031 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787747 1q21.1 1 146118484T> C null R G 1032 1032 missense 0.202 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787745 1q21.1 1 146118474G> A null S L 1035 1035 missense 0.378 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787742 1q21.1 1 146118472T> C null T A 1036 1036 missense 0.99 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782284977 1q21.1 1 146118465G> A null S F 1038 1038 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787729 1q21.1 1 146118463T> C null S G 1039 1039 missense 0.006 benign 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1322988037 1q21.1 1 146118461A> T null S R 1039 1039 missense 0.657 possibly damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787728 1q21.1 1 146118459C> T null C Y 1040 1040 missense 0.011 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787727 1q21.1 1 146118457G> T null L I 1041 1041 missense 0.46 possibly damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787726 1q21.1 1 146118456A> G null L P 1041 1041 missense 0.006 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787723 1q21.1 1 146118444T> A null D V 1045 1045 missense 0.163 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782031725 1q21.1 1 146118435T> A null Q L 1048 1048 missense 0.908 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787715 1q21.1 1 146118433G> A null P S 1049 1049 missense 0.02 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787711 1q21.1 1 146118427C> T null G R 1051 1051 missense 0.098 benign 0.7 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1336526084 1q21.1 1 146118423C> G null S T 1052 1052 missense 0.908 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787706 1q21.1 1 146118420G> A null S F 1053 1053 missense 0.728 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787704 1q21.1 1 146118416A> C null F L 1054 1054 missense 0.129 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787705 1q21.1 1 146118417A> G null F S 1054 1054 missense 0.848 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781927190 1q21.1 1 146118414T> C null Y C 1055 1055 missense 0.9 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787703 1q21.1 1 146118415A> G null Y H 1055 1055 missense 0.006 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787701 1q21.1 1 146118411G> A null A V 1056 1056 missense 0.195 benign 0.6 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787698 1q21.1 1 146118406C> G null E Q 1058 1058 missense 0.879 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787696 1q21.1 1 146118403C> T null E K 1059 1059 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787690 1q21.1 1 146118398G> C null N K 1060 1060 missense 0.003 benign 0.6 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787690 1q21.1 1 146118398G> T null N K 1060 1060 missense 0.003 benign 0.6 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787688 1q21.1 1 146118397G> C null H D 1061 1061 missense 0.274 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559334505 1q21.1 1 146118393A> T null V D 1062 1062 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1444675324 1q21.1 1 146118394C> T null V I 1062 1062 missense 0.577 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559334492 1q21.1 1 146118390C> A null G V 1063 1063 missense 0.151 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787678 1q21.1 1 146118384G> A null S F 1065 1065 missense 0.12 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787673 1q21.1 1 146118382G> A null L F 1066 1066 missense 0.889 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787673 1q21.1 1 146118382G> C null L V 1066 1066 missense 0.04 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787672 1q21.1 1 146118377G> T null D E 1067 1067 missense 0.958 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787671 1q21.1 1 146118376C> A null V L 1068 1068 missense 0.037 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787671 1q21.1 1 146118376C> T null V M 1068 1068 missense 0.697 possibly damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787670 1q21.1 1 146118370C> T null E K 1070 1070 missense 0.85 possibly damaging 0.41 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782161335 1q21.1 1 146117602C> T null E K 1088 1088 missense 0.943 probably damaging 0.53 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787622 1q21.1 1 146117578C> T null G R 1096 1096 missense 0.054 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782791317 1q21.1 1 146117570T> A null E D 1098 1098 missense 0.985 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787618 1q21.1 1 146117561G> C null N K 1101 1101 missense 0.163 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs4125369 1q21.1 1 146117562T> G null N T 1101 1101 missense 0.274 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553787585 1q21.1 1 146116923T> A null E D 1113 1113 missense 0.003 benign 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs200112102 1q21.1 1 146116915C> T null G E 1116 1116 missense 0.533 possibly damaging 0.59 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787583 1q21.1 1 146116883A> T null C S 1127 1127 missense 0.012 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs201099220 1q21.1 1 146116879T> G null Y S 1128 1128 missense 0.83 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787577 1q21.1 1 146116838G> T null Q K 1142 1142 missense 0.948 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553787576 1q21.1 1 146116828C> G null R T 1145 1145 missense 0.785 possibly damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787575 1q21.1 1 146116825C> A null S I 1146 1146 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553787573 1q21.1 1 146116819A> C null F C 1148 1148 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787566 1q21.1 1 146116814C> T null V I 1150 1150 missense 0.057 benign 0.53 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787565 1q21.1 1 146116798C> T null R H 1155 1155 missense 0.024 benign 0.8 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787564 1q21.1 1 146116788G> C null F L 1158 1158 missense 0.007 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs202029250 1q21.1 1 146116786G> T null A D 1159 1159 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553787563 1q21.1 1 146116784C> A null V F 1160 1160 missense 0.855 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1363797810 1q21.1 1 146116047A> G null I T 1165 1165 missense 0.985 probably damaging 0.65 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1441092879 1q21.1 1 146116037G> T null Y * 1168 1168 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs201306858 1q21.1 1 146116036G> C null Q E 1169 1169 missense 0.455 possibly damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs201306858 1q21.1 1 146116036G> T null Q K 1169 1169 missense 0.045 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787482 1q21.1 1 146116025T> G null E D 1172 1172 missense 0.993 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1261129857 1q21.1 1 146116022T> A null E D 1173 1173 missense 0.996 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs202171327 1q21.1 1 146116021C> A null D Y 1174 1174 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1352626924 1q21.1 1 146116013G> T null D E 1176 1176 missense 0.669 possibly damaging 0.99 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs200521670 1q21.1 1 146116012G> T null P T 1177 1177 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1247402512 1q21.1 1 146116004G> T null C * 1179 1179 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1468960316 1q21.1 1 146116003G> C null P A 1180 1180 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1195580803 1q21.1 1 146116002G> C null P R 1180 1180 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1265458184 1q21.1 1 146115999C> A null R M 1181 1181 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787403 1q21.1 1 146115375T> G null K N 1190 1190 missense 0.993 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787400 1q21.1 1 146115373T> C null E G 1191 1191 missense 0.171 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs880000056 1q21.1 1 146115331G> A null T I 1205 1205 missense 0.06 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787392 1q21.1 1 146115317G> C null L V 1210 1210 missense 0.992 probably damaging 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787391 1q21.1 1 146115307G> A null P L 1213 1213 missense 0.968 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1173721253 1q21.1 1 146115300T> G null L F 1215 1215 missense 0.992 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787387 1q21.1 1 146115299C> A null G C 1216 1216 missense 0.881 possibly damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787381 1q21.1 1 146115298C> T null G D 1216 1216 missense 0.997 probably damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787387 1q21.1 1 146115299C> G null G R 1216 1216 missense 0.998 probably damaging 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787379 1q21.1 1 146115288G> T null Y * 1219 1219 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1358465550 1q21.1 1 146115289T> C null Y C 1219 1219 missense 0.999 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1431351257 1q21.1 1 146115286C> T null S N 1220 1220 missense 0.92 probably damaging 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs879242350 1q21.1 1 146115285G> T null S R 1220 1220 missense 0.413 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs879010237 1q21.1 1 146115275A> G null Y H 1224 1224 missense 0.493 possibly damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1322527983 1q21.1 1 146115260G> C null Q E 1229 1229 missense 0.953 probably damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787375 1q21.1 1 146115237G> T null D E 1236 1236 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787374 1q21.1 1 146115236C> A null V L 1237 1237 missense 0.368 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787374 1q21.1 1 146115236C> T null V M 1237 1237 missense 0.709 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1363104421 1q21.1 1 146115233C> G null D H 1238 1238 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787197 1q21.1 1 146114520C> T null R K 1239 1239 missense 0.882 possibly damaging 0.49 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs75252120 1q21.1 1 146114518T> A null I F 1240 1240 missense 0.02 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs75252120 1q21.1 1 146114518T> G null I L 1240 1240 missense 0.098 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782807499 1q21.1 1 146114516A> C null I M 1240 1240 missense 0.789 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782446844 1q21.1 1 146114515T> G null K Q 1241 1241 missense 0.96 probably damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782724552 1q21.1 1 146114514T> C null K R 1241 1241 missense 0.941 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781866467 1q21.1 1 146114512T> C null K E 1242 1242 missense 0.992 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787194 1q21.1 1 146114511T> A null K M 1242 1242 missense 0.999 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs199626421 1q21.1 1 146114507G> C null D E 1243 1243 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs199626421 1q21.1 1 146114507G> T null D E 1243 1243 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782536243 1q21.1 1 146114508T> C null D G 1243 1243 missense 0.92 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787193 1q21.1 1 146114509C> A null D Y 1243 1243 missense 0.413 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782587074 1q21.1 1 146114505T> C null E G 1244 1244 missense 0.273 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1229394566 1q21.1 1 146114506C> G null E Q 1244 1244 missense 0.017 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782217377 1q21.1 1 146114502T> C null E G 1245 1245 missense 0.991 probably damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782217377 1q21.1 1 146114502T> A null E V 1245 1245 missense 0.993 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782415546 1q21.1 1 146114498C> G null E D 1246 1246 missense 0.943 probably damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781987490 1q21.1 1 146114500C> T null E K 1246 1246 missense 0.943 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781987490 1q21.1 1 146114500C> G null E Q 1246 1246 missense 0.962 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1340394541 1q21.1 1 146114496T> G null E A 1247 1247 missense 0.992 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782045340 1q21.1 1 146114494C> G null E Q 1248 1248 missense 0.995 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787186 1q21.1 1 146114491C> G null D H 1249 1249 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787186 1q21.1 1 146114491C> T null D N 1249 1249 missense 0.992 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787185 1q21.1 1 146114490T> A null D V 1249 1249 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787183 1q21.1 1 146114486T> G null Q H 1250 1250 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs879953920 1q21.1 1 146114484T> C null D G 1251 1251 missense 0.005 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787181 1q21.1 1 146114485C> A null D Y 1251 1251 missense 0.847 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787175 1q21.1 1 146114478G> T null P Q 1253 1253 missense 0.986 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787179 1q21.1 1 146114479G> A null P S 1253 1253 missense 0.634 possibly damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553787171 1q21.1 1 146114474G> T null C * 1254 1254 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782321014 1q21.1 1 146114475C> T null C Y 1254 1254 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553787167 1q21.1 1 146114472G> C null P R 1255 1255 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781943377 1q21.1 1 146114473G> A null P S 1255 1255 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782778820 1q21.1 1 146113808G> C null L V 1262 1262 missense 0.075 benign 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782551482 1q21.1 1 146113801A> G null V A 1264 1264 missense 0.171 benign 0.67 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781802476 1q21.1 1 146113798A> G null V A 1265 1265 missense 0.92 probably damaging 0.72 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781802476 1q21.1 1 146113798A> C null V G 1265 1265 missense 0.946 probably damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782576059 1q21.1 1 146113799C> T null V I 1265 1265 missense 0.962 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs77113202 1q21.1 1 146113795T> G null E A 1266 1266 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786968 1q21.1 1 146113794C> A null E D 1266 1266 missense 0.993 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786967 1q21.1 1 146113793G> A null P S 1267 1267 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786966 1q21.1 1 146113790C> G null E Q 1268 1268 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786964 1q21.1 1 146113782C> A null L F 1270 1270 missense 0.996 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786963 1q21.1 1 146113769C> G null D H 1275 1275 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786960 1q21.1 1 146113757A> C null S A 1279 1279 missense 0.968 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786959 1q21.1 1 146113739G> T null L I 1285 1285 missense 0.992 probably damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786958 1q21.1 1 146113738A> G null L P 1285 1285 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786957 1q21.1 1 146113733G> C null Q E 1287 1287 missense 0.943 probably damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782604016 1q21.1 1 146113719G> C null C W 1291 1291 missense 0.996 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782234873 1q21.1 1 146113717T> A null Q L 1292 1292 missense 0.12 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786954 1q21.1 1 146113715G> C null P A 1293 1293 missense 0.997 probably damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786953 1q21.1 1 146113714G> A null P L 1293 1293 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1249374403 1q21.1 1 146113698A> C null F L 1298 1298 missense 0.986 probably damaging 0.51 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786950 1q21.1 1 146113697A> G null Y H 1299 1299 missense 0.998 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786948 1q21.1 1 146113693G> A null A V 1300 1300 missense 0.907 possibly damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782186333 1q21.1 1 146113685C> T null E K 1303 1303 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1200953162 1q21.1 1 146113680T> G null K N 1304 1304 missense 0.96 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786944 1q21.1 1 146113673C> G null G R 1307 1307 missense 1.0 probably damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786937 1q21.1 1 146113658C> T null V M 1312 1312 missense 0.772 possibly damaging 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786936 1q21.1 1 146113652C> G null E Q 1314 1314 missense 0.995 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786905 1q21.1 1 146112910T> A null K I 1323 1323 missense 0.999 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786902 1q21.1 1 146112889T> A null K M 1330 1330 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786902 1q21.1 1 146112889T> G null K T 1330 1330 missense 0.96 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786901 1q21.1 1 146112884C> T null E K 1332 1332 missense 0.413 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786899 1q21.1 1 146112880C> A null R I 1333 1333 missense 0.996 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786896 1q21.1 1 146112874C> A null R M 1335 1335 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786893 1q21.1 1 146112859C> T null G E 1340 1340 missense 0.997 probably damaging 0.81 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786895 1q21.1 1 146112860C> T null G R 1340 1340 missense 0.998 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786891 1q21.1 1 146112843G> C null N K 1345 1345 missense 0.96 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786889 1q21.1 1 146112838G> C null P R 1347 1347 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786734 1q21.1 1 146112225G> T null L I 1351 1351 missense 0.834 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782591020 1q21.1 1 146112224A> G null L P 1351 1351 missense 0.991 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786730 1q21.1 1 146112222T> C null S G 1352 1352 missense 0.986 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786727 1q21.1 1 146112221C> T null S N 1352 1352 missense 0.986 probably damaging 0.49 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782218266 1q21.1 1 146112218C> T null R K 1353 1353 missense 0.653 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782218266 1q21.1 1 146112218C> A null R M 1353 1353 missense 0.942 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782498972 1q21.1 1 146112217C> G null R S 1353 1353 missense 0.754 possibly damaging 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782498972 1q21.1 1 146112217C> A null R S 1353 1353 missense 0.754 possibly damaging 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786718 1q21.1 1 146112214C> A null E D 1354 1354 missense 0.365 benign 0.54 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782402641 1q21.1 1 146112215T> C null E G 1354 1354 missense 0.96 probably damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782260571 1q21.1 1 146112216C> G null E Q 1354 1354 missense 0.96 probably damaging 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782181256 1q21.1 1 146112212A> T null L Q 1355 1355 missense 0.988 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587687578 1q21.1 1 146112213G> C null L V 1355 1355 0.003794 missense 0.941 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782769192 1q21.1 1 146112205T> A null E D 1357 1357 missense 0.005 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782096544 1q21.1 1 146112206T> C null E G 1357 1357 missense 0.281 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781949901 1q21.1 1 146112207C> T null E K 1357 1357 missense 0.281 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781949901 1q21.1 1 146112207C> G null E Q 1357 1357 missense 0.449 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782096544 1q21.1 1 146112206T> A null E V 1357 1357 missense 0.425 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781993023 1q21.1 1 146112203T> G null E A 1358 1358 missense 0.85 possibly damaging 0.63 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782167256 1q21.1 1 146112202C> A null E D 1358 1358 missense 0.941 probably damaging 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782167256 1q21.1 1 146112202C> G null E D 1358 1358 missense 0.941 probably damaging 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786701 1q21.1 1 146112204C> T null E K 1358 1358 missense 0.915 probably damaging 0.67 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781993023 1q21.1 1 146112203T> A null E V 1358 1358 missense 0.971 probably damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782698129 1q21.1 1 146112200T> G null K T 1359 1359 missense 0.96 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs183223304 1q21.1 1 146112197C> T null G E 1360 1360 missense 0.044 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781810358 1q21.1 1 146112198C> G null G R 1360 1360 missense 0.642 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs183223304 1q21.1 1 146112197C> A null G V 1360 1360 missense 0.772 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781810358 1q21.1 1 146112198C> A null G W 1360 1360 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782514457 1q21.1 1 146112194G> A null P L 1361 1361 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782514457 1q21.1 1 146112194G> C null P R 1361 1361 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786697 1q21.1 1 146112195G> T null P T 1361 1361 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782447605 1q21.1 1 146112190T> G null E D 1362 1362 missense 0.821 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786696 1q21.1 1 146112191T> C null E G 1362 1362 missense 0.062 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782672868 1q21.1 1 146112192C> T null E K 1362 1362 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782672868 1q21.1 1 146112192C> G null E Q 1362 1362 missense 0.92 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782583305 1q21.1 1 146112189C> T null V I 1363 1363 missense 0.821 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782583305 1q21.1 1 146112189C> G null V L 1363 1363 missense 0.821 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC rs587766178 1q21.1 1 146112184C> G null L F 1364 1364 5.99E-4 missense 0.294 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786695 1q21.1 1 146112186A> C null L V 1364 1364 missense 0.886 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782356089 1q21.1 1 146112185A> C null L W 1364 1364 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553786690 1q21.1 1 146112183G> A null Q * 1365 1365 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553786690 1q21.1 1 146112183G> C null Q E 1365 1365 missense 0.671 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553786690 1q21.1 1 146112183G> T null Q K 1365 1365 missense 0.752 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786689 1q21.1 1 146112182T> G null Q P 1365 1365 missense 0.832 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs189214440 1q21.1 1 146112179T> G null D A 1366 1366 0.009784 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs189214440 1q21.1 1 146112179T> C null D G 1366 1366 0.009784 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782422835 1q21.1 1 146112180C> T null D N 1366 1366 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782422835 1q21.1 1 146112180C> A null D Y 1366 1366 missense 0.975 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786683 1q21.1 1 146112176G> A null S L 1367 1367 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782069519 1q21.1 1 146112177A> G null S P 1367 1367 missense 0.993 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782069519 1q21.1 1 146112177A> T null S T 1367 1367 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781967631 1q21.1 1 146112173A> G null L P 1368 1368 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781967631 1q21.1 1 146112173A> C null L R 1368 1368 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782346851 1q21.1 1 146112174G> C null L V 1368 1368 missense 0.992 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786678 1q21.1 1 146112170T> C null D G 1369 1369 missense 0.886 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782780140 1q21.1 1 146112171C> G null D H 1369 1369 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782780140 1q21.1 1 146112171C> A null D Y 1369 1369 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587602181 1q21.1 1 146112166T> A null R S 1370 1370 2.0E-4 missense 0.832 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781892844 1q21.1 1 146112167C> G null R T 1370 1370 missense 0.832 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782461193 1q21.1 1 146112163A> T null C * 1371 1371 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781799107 1q21.1 1 146112164C> A null C F 1371 1371 missense 0.786 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781799107 1q21.1 1 146112164C> T null C Y 1371 1371 missense 0.891 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs373984088 1q21.1 1 146112161T> A null Y F 1372 1372 missense 0.931 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs373984088 1q21.1 1 146112161T> G null Y S 1372 1372 missense 0.98 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782514531 1q21.1 1 146112158G> T null S * 1373 1373 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782514531 1q21.1 1 146112158G> C null S * 1373 1373 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781849702 1q21.1 1 146112159A> T null S T 1373 1373 missense 0.931 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786674 1q21.1 1 146112155G> A null T I 1374 1374 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587708799 1q21.1 1 146112156T> G null T P 1374 1374 2.0E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782377949 1q21.1 1 146112152G> A null P L 1375 1375 missense 0.995 probably damaging 0.42 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786672 1q21.1 1 146112153G> A null P S 1375 1375 missense 0.992 probably damaging 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786672 1q21.1 1 146112153G> T null P T 1375 1375 missense 0.992 probably damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786664 1q21.1 1 146112147C> T null G S 1377 1377 missense 0.998 probably damaging 0.79 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782152098 1q21.1 1 146112143C> A null C F 1378 1378 missense 0.708 possibly damaging 0.65 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782152098 1q21.1 1 146112143C> G null C S 1378 1378 missense 0.832 possibly damaging 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782152098 1q21.1 1 146112143C> T null C Y 1378 1378 missense 0.12 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786659 1q21.1 1 146112141G> T null L I 1379 1379 missense 0.992 probably damaging 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781922025 1q21.1 1 146112138C> A null E * 1380 1380 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781922025 1q21.1 1 146112138C> G null E Q 1380 1380 missense 0.962 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786657 1q21.1 1 146112134A> G null L P 1381 1381 missense 0.999 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782742552 1q21.1 1 146112131G> T null T N 1382 1382 missense 0.835 possibly damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786655 1q21.1 1 146112132T> G null T P 1382 1382 missense 0.108 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782742552 1q21.1 1 146112131G> C null T S 1382 1382 missense 0.171 benign 0.66 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786655 1q21.1 1 146112132T> A null T S 1382 1382 missense 0.171 benign 0.66 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587631780 1q21.1 1 146112127G> C null D E 1383 1383 0.001398 missense 0.941 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782108920 1q21.1 1 146112129C> G null D H 1383 1383 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786649 1q21.1 1 146112125G> T null S * 1384 1384 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781880263 1q21.1 1 146112122C> G null C S 1385 1385 missense 0.557 possibly damaging 0.68 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781880263 1q21.1 1 146112122C> T null C Y 1385 1385 missense 0.935 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782445511 1q21.1 1 146112118C> A null Q H 1386 1386 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782445511 1q21.1 1 146112118C> G null Q H 1386 1386 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786647 1q21.1 1 146112119T> G null Q P 1386 1386 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786645 1q21.1 1 146112117G> C null P A 1387 1387 missense 0.997 probably damaging 0.63 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786642 1q21.1 1 146112116G> C null P R 1387 1387 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781827759 1q21.1 1 146112112G> C null Y * 1388 1388 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782719873 1q21.1 1 146112113T> C null Y C 1388 1388 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782719873 1q21.1 1 146112113T> A null Y F 1388 1388 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786635 1q21.1 1 146112111T> C null R G 1389 1389 missense 0.882 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559331330 1q21.1 1 146112110C> A null R I 1389 1389 missense 0.963 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782484706 1q21.1 1 146112107C> T null S N 1390 1390 missense 0.97 probably damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs368175985 1q21.1 1 146112106A> T null S R 1390 1390 missense 0.937 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782484706 1q21.1 1 146112107C> G null S T 1390 1390 missense 0.97 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782261459 1q21.1 1 146112104G> T null A D 1391 1391 missense 0.987 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786630 1q21.1 1 146112105C> A null A S 1391 1391 missense 0.958 probably damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786630 1q21.1 1 146112105C> T null A T 1391 1391 missense 0.712 possibly damaging 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786629 1q21.1 1 146112102A> G null F L 1392 1392 missense 0.692 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs78766263 1q21.1 1 146112097A> C null Y * 1393 1393 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782181900 1q21.1 1 146112098T> C null Y C 1393 1393 missense 0.963 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782685645 1q21.1 1 146112099A> G null Y H 1393 1393 missense 0.975 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782181900 1q21.1 1 146112098T> G null Y S 1393 1393 missense 0.832 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786626 1q21.1 1 146112095A> T null V E 1394 1394 missense 0.832 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs74330648 1q21.1 1 146112096C> T null V I 1394 1394 missense 0.234 benign 0.42 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs74330648 1q21.1 1 146112096C> A null V L 1394 1394 missense 0.421 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782142711 1q21.1 1 146112091C> G null L F 1395 1395 missense 0.108 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782142711 1q21.1 1 146112091C> A null L F 1395 1395 missense 0.108 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587688842 1q21.1 1 146112092A> G null L S 1395 1395 2.0E-4 missense 0.92 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782364186 1q21.1 1 146112093A> C null L V 1395 1395 missense 0.835 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782750353 1q21.1 1 146112088C> A null E D 1396 1396 missense 0.992 probably damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782750353 1q21.1 1 146112088C> G null E D 1396 1396 missense 0.992 probably damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786621 1q21.1 1 146112089T> C null E G 1396 1396 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587768285 1q21.1 1 146112090C> T null E K 1396 1396 3.99E-4 missense 0.992 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587768285 1q21.1 1 146112090C> G null E Q 1396 1396 3.99E-4 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781859240 1q21.1 1 146112087G> A null Q * 1397 1397 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782532271 1q21.1 1 146112084G> C null Q E 1398 1398 missense 0.766 possibly damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587619207 1q21.1 1 146112082C> A null Q H 1398 1398 2.0E-4 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782532271 1q21.1 1 146112084G> T null Q K 1398 1398 missense 0.766 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782433686 1q21.1 1 146112081G> A null R C 1399 1399 missense 0.167 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782433686 1q21.1 1 146112081G> C null R G 1399 1399 missense 0.851 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786620 1q21.1 1 146112080C> T null R H 1399 1399 missense 0.082 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782584520 1q21.1 1 146112078C> A null V F 1400 1400 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782584520 1q21.1 1 146112078C> T null V I 1400 1400 missense 0.675 possibly damaging 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782635488 1q21.1 1 146112074C> G null G A 1401 1401 missense 0.997 probably damaging 0.73 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782210296 1q21.1 1 146112075C> A null G C 1401 1401 missense 1.0 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782635488 1q21.1 1 146112074C> T null G D 1401 1401 missense 0.999 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782210296 1q21.1 1 146112075C> G null G R 1401 1401 missense 0.999 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782635488 1q21.1 1 146112074C> A null G V 1401 1401 missense 0.999 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782253092 1q21.1 1 146112071A> C null F C 1402 1402 missense 0.793 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs79409680 1q21.1 1 146112072A> T null F I 1402 1402 0.1769 missense 0.155 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs75444536 1q21.1 1 146112070G> C null F L 1402 1402 missense 0.003 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782253092 1q21.1 1 146112071A> G null F S 1402 1402 missense 0.329 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs79409680 1q21.1 1 146112072A> C null F V 1402 1402 0.1769 missense 0.101 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782206902 1q21.1 1 146112068G> T null A D 1403 1403 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782206902 1q21.1 1 146112068G> C null A G 1403 1403 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782024794 1q21.1 1 146112069C> G null A P 1403 1403 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782024794 1q21.1 1 146112069C> T null A T 1403 1403 missense 0.986 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782206902 1q21.1 1 146112068G> A null A V 1403 1403 missense 0.986 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs80138985 1q21.1 1 146112066C> A null V F 1404 1404 2.0E-4 missense 0.941 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs80138985 1q21.1 1 146112066C> G null V L 1404 1404 2.0E-4 missense 0.171 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782160690 1q21.1 1 146112061G> T null D E 1405 1405 missense 0.981 probably damaging 0.46 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782772420 1q21.1 1 146112063C> G null D H 1405 1405 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782772420 1q21.1 1 146112063C> T null D N 1405 1405 missense 0.989 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782021787 1q21.1 1 146112062T> A null D V 1405 1405 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587687176 1q21.1 1 146112058C> G null M I 1406 1406 2.0E-4 missense 0.211 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781806321 1q21.1 1 146112060T> A null M L 1406 1406 missense 0.14 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781806321 1q21.1 1 146112060T> C null M V 1406 1406 missense 0.033 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786606 1q21.1 1 146112055A> C null D E 1407 1407 missense 0.981 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs199586682 1q21.1 1 146112057C> T null D N 1407 1407 0.001398 missense 0.989 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782513532 1q21.1 1 146112056T> A null D V 1407 1407 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs199586682 1q21.1 1 146112057C> A null D Y 1407 1407 0.001398 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782650094 1q21.1 1 146112054C> T null E K 1408 1408 missense 0.692 possibly damaging 0.76 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786200 1q21.1 1 146111329A> G null I T 1409 1409 missense 0.93 probably damaging 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786202 1q21.1 1 146111330T> C null I V 1409 1409 missense 0.702 possibly damaging 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786198 1q21.1 1 146111318G> T null Q K 1413 1413 missense 0.051 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786196 1q21.1 1 146111315C> T null E K 1414 1414 missense 0.968 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786194 1q21.1 1 146111309C> A null E * 1416 1416 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1553786193 1q21.1 1 146111308T> C null E G 1416 1416 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1553786187 1q21.1 1 146111300G> C null Q E 1419 1419 missense 0.766 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786186 1q21.1 1 146111294G> T null P T 1421 1421 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786185 1q21.1 1 146111286G> T null C * 1423 1423 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786182 1q21.1 1 146111284G> T null P H 1424 1424 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786182 1q21.1 1 146111284G> C null P R 1424 1424 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786028 1q21.1 1 146110684C> A null R S 1425 1425 missense 0.884 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1553786180 1q21.1 1 146111282T> A null R W 1425 1425 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786027 1q21.1 1 146110683G> C null L V 1426 1426 missense 0.937 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786026 1q21.1 1 146110679C> T null S N 1427 1427 missense 0.876 possibly damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786021 1q21.1 1 146110668G> T null L M 1431 1431 missense 0.981 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781821212 1q21.1 1 146110664T> G null D A 1432 1432 missense 0.968 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786017 1q21.1 1 146110663A> C null D E 1432 1432 missense 0.949 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782717391 1q21.1 1 146110665C> A null D Y 1432 1432 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786016 1q21.1 1 146110661T> G null E A 1433 1433 missense 0.915 probably damaging 0.56 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559329935 1q21.1 1 146110654C> A null E D 1435 1435 missense 0.878 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782625961 1q21.1 1 146110655T> C null E G 1435 1435 missense 0.946 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782493430 1q21.1 1 146110656C> G null E Q 1435 1435 missense 0.946 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786006 1q21.1 1 146110652G> T null P H 1436 1436 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786010 1q21.1 1 146110653G> A null P S 1436 1436 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786010 1q21.1 1 146110653G> T null P T 1436 1436 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs587701290 1q21.1 1 146110647C> A null V F 1438 1438 2.0E-4 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs587701290 1q21.1 1 146110647C> T null V I 1438 1438 2.0E-4 missense 0.737 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786000 1q21.1 1 146110642C> A null L F 1439 1439 missense 0.974 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553786003 1q21.1 1 146110643A> G null L S 1439 1439 missense 0.974 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785996 1q21.1 1 146110638C> T null D N 1441 1441 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785994 1q21.1 1 146110635_146110638du p null S * 1442 1442 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785993 1q21.1 1 146110635A> G null S P 1442 1442 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785990 1q21.1 1 146110631A> T null L Q 1443 1443 missense 0.988 probably damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559329894 1q21.1 1 146110632G> C null L V 1443 1443 missense 0.937 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs879948587 1q21.1 1 146110628T> C null D G 1444 1444 missense 0.97 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs202019968 1q21.1 1 146110629C> T null D N 1444 1444 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs879948587 1q21.1 1 146110628T> A null D V 1444 1444 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785988 1q21.1 1 146110626T> C null R G 1445 1445 missense 0.824 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785987 1q21.1 1 146110625C> T null R K 1445 1445 missense 0.65 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782321015 1q21.1 1 146110621A> C null C W 1446 1446 missense 0.982 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785986 1q21.1 1 146110622C> T null C Y 1446 1446 missense 0.942 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785985 1q21.1 1 146110620A> G null Y H 1447 1447 missense 0.946 probably damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs781971945 1q21.1 1 146110619T> G null Y S 1447 1447 missense 0.946 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785983 1q21.1 1 146110616G> A null S L 1448 1448 missense 0.925 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782244632 1q21.1 1 146110613G> A null T I 1449 1449 missense 0.964 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785980 1q21.1 1 146110605C> T null G S 1452 1452 missense 0.994 probably damaging 0.42 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785979 1q21.1 1 146110599G> C null L V 1454 1454 missense 0.937 probably damaging 0.52 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782401654 1q21.1 1 146110596C> T null E K 1455 1455 missense 0.725 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782401654 1q21.1 1 146110596C> G null E Q 1455 1455 missense 0.725 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785973 1q21.1 1 146110590G> A null P S 1457 1457 missense 0.979 probably damaging 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785972 1q21.1 1 146110585G> C null D E 1458 1458 missense 0.801 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782022453 1q21.1 1 146110583A> C null L * 1459 1459 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782022453 1q21.1 1 146110583A> G null L S 1459 1459 missense 0.922 probably damaging 0.8 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785969 1q21.1 1 146110580C> T null G D 1460 1460 missense 0.922 probably damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782161863 1q21.1 1 146110581C> G null G R 1460 1460 missense 0.752 possibly damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785964 1q21.1 1 146110568C> A null S I 1464 1464 missense 0.849 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785964 1q21.1 1 146110568C> T null S N 1464 1464 missense 0.725 possibly damaging 0.57 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782699317 1q21.1 1 146110567G> T null S R 1464 1464 missense 0.067 benign 0.77 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785960 1q21.1 1 146110562G> T null A D 1466 1466 missense 0.981 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785956 1q21.1 1 146110557A> G null Y H 1468 1468 missense 0.097 benign 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785956 1q21.1 1 146110557A> T null Y N 1468 1468 missense 0.727 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785949 1q21.1 1 146110549C> G null L F 1470 1470 missense 0.974 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782086617 1q21.1 1 146110548C> T null E K 1471 1471 missense 0.725 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785942 1q21.1 1 146110542G> C null Q E 1473 1473 missense 0.535 possibly damaging 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785941 1q21.1 1 146110540C> G null Q H 1473 1473 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785940 1q21.1 1 146110533C> G null G R 1476 1476 missense 0.998 probably damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782743995 1q21.1 1 146110523A> G null L P 1479 1479 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587773737 1q21.1 1 146110519G> T null D E 1480 1480 5.99E-4 missense 0.972 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785938 1q21.1 1 146110518C> T null V M 1481 1481 missense 0.977 probably damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785697 1q21.1 1 146109802C> A null R I 1483 1483 missense 0.921 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781798897 1q21.1 1 146109801T> G null R S 1483 1483 missense 0.884 possibly damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785691 1q21.1 1 146109800T> A null I F 1484 1484 missense 0.201 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782769724 1q21.1 1 146109798A> C null I M 1484 1484 missense 0.367 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782079202 1q21.1 1 146109799A> G null I T 1484 1484 missense 0.001 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781880434 1q21.1 1 146109796T> C null K R 1485 1485 missense 0.915 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785688 1q21.1 1 146109793T> A null K M 1486 1486 missense 0.989 probably damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1216065455 1q21.1 1 146109789G> C null D E 1487 1487 missense 0.949 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1460535911 1q21.1 1 146109790T> C null D G 1487 1487 missense 0.968 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587698666 1q21.1 1 146109791C> T null D N 1487 1487 3.99E-4 missense 0.968 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587698666 1q21.1 1 146109791C> A null D Y 1487 1487 3.99E-4 missense 0.994 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1484738361 1q21.1 1 146109787T> C null E G 1488 1488 missense 0.167 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs375346584 1q21.1 1 146109788C> G null E Q 1488 1488 0.02156 missense 0.011 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782026230 1q21.1 1 146109783T> A null E D 1489 1489 missense 0.878 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782235637 1q21.1 1 146109782C> A null E * 1490 1490 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1481360349 1q21.1 1 146109780C> G null E D 1490 1490 missense 0.878 possibly damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587630574 1q21.1 1 146109781T> C null E G 1490 1490 0.002196 missense 0.946 probably damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782235637 1q21.1 1 146109782C> T null E K 1490 1490 missense 0.915 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1174258842 1q21.1 1 146109778T> C null E G 1491 1491 missense 0.948 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782422404 1q21.1 1 146109774T> G null E D 1492 1492 missense 0.878 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782279360 1q21.1 1 146109776C> T null E K 1492 1492 missense 0.92 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782056324 1q21.1 1 146109771G> T null D E 1493 1493 missense 0.949 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559329119 1q21.1 1 146109772T> C null D G 1493 1493 missense 0.968 probably damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs781910905 1q21.1 1 146109773C> T null D N 1493 1493 missense 0.968 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782139538 1q21.1 1 146109770G> A null Q * 1494 1494 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782139538 1q21.1 1 146109770G> T null Q K 1494 1494 missense 0.535 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782802289 1q21.1 1 146109769T> G null Q P 1494 1494 missense 0.825 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587770626 1q21.1 1 146109765G> T null D E 1495 1495 3.99E-4 missense 0.257 benign 0.64 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587687982 1q21.1 1 146109766T> C null D G 1495 1495 0.1212 missense 0.003 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1320465164 1q21.1 1 146109767C> G null D H 1495 1495 missense 0.784 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1320465164 1q21.1 1 146109767C> T null D N 1495 1495 missense 0.2 benign 0.8 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1320465164 1q21.1 1 146109767C> A null D Y 1495 1495 missense 0.73 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587622326 1q21.1 1 146109763G> T null P Q 1496 1496 5.99E-4 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587622326 1q21.1 1 146109763G> C null P R 1496 1496 5.99E-4 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782707702 1q21.1 1 146109764G> A null P S 1496 1496 missense 0.99 probably damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782707702 1q21.1 1 146109764G> T null P T 1496 1496 missense 0.99 probably damaging 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781867804 1q21.1 1 146109761G> C null P A 1497 1497 missense 0.985 probably damaging 0.41 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785662 1q21.1 1 146109760G> A null P L 1497 1497 missense 0.993 probably damaging 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785662 1q21.1 1 146109760G> T null P Q 1497 1497 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781867804 1q21.1 1 146109761G> A null P S 1497 1497 missense 0.99 probably damaging 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587695666 1q21.1 1 146109756G> T null C * 1498 1498 2.0E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785657 1q21.1 1 146109757C> A null C F 1498 1498 missense 0.947 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782682433 1q21.1 1 146109754G> T null P H 1499 1499 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782682433 1q21.1 1 146109754G> A null P L 1499 1499 missense 0.99 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782682433 1q21.1 1 146109754G> C null P R 1499 1499 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1294453400 1q21.1 1 146109755G> A null P S 1499 1499 missense 0.986 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782587514 1q21.1 1 146109751C> T null R K 1500 1500 missense 0.739 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782587514 1q21.1 1 146109751C> G null R T 1500 1500 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782637273 1q21.1 1 146109098G> C null L V 1506 1506 missense 0.97 probably damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782277827 1q21.1 1 146109091A> G null V A 1508 1508 missense 0.135 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1165203943 1q21.1 1 146109088A> G null V A 1509 1509 missense 0.91 probably damaging 0.6 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785459 1q21.1 1 146109085T> G null E A 1510 1510 missense 0.959 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785458 1q21.1 1 146109068C> A null D Y 1516 1516 missense 0.997 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785457 1q21.1 1 146109064G> A null S L 1517 1517 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782568593 1q21.1 1 146109055C> G null R T 1520 1520 missense 0.943 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785453 1q21.1 1 146109028A> G null L P 1529 1529 missense 0.995 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785451 1q21.1 1 146109009G> C null C W 1535 1535 missense 0.992 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785450 1q21.1 1 146109007T> A null Q L 1536 1536 missense 0.093 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785446 1q21.1 1 146109005G> C null P A 1537 1537 missense 0.985 probably damaging 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785445 1q21.1 1 146109004G> A null P L 1537 1537 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785442 1q21.1 1 146108998C> A null G V 1539 1539 missense 0.999 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785441 1q21.1 1 146108993A> C null S A 1541 1541 missense 0.7 possibly damaging 0.75 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782575101 1q21.1 1 146108988A> C null F L 1542 1542 missense 0.91 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785440 1q21.1 1 146108987A> T null Y N 1543 1543 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782382644 1q21.1 1 146108970T> G null K N 1548 1548 missense 0.974 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782382644 1q21.1 1 146108970T> A null K N 1548 1548 missense 0.974 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785438 1q21.1 1 146108971T> G null K T 1548 1548 missense 0.975 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1398640170 1q21.1 1 146108968T> A null H L 1549 1549 missense 0.943 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785433 1q21.1 1 146108948C> T null V M 1556 1556 missense 0.989 probably damaging 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785432 1q21.1 1 146108945C> T null G R 1557 1557 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785376 1q21.1 1 146108217C> G null K N 1561 1561 missense 0.974 probably damaging 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785373 1q21.1 1 146108191C> T null G E 1570 1570 missense 0.999 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785371 1q21.1 1 146108184T> A null R S 1572 1572 missense 0.943 probably damaging 0.7 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785369 1q21.1 1 146108171T> A null R * 1577 1577 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785369 1q21.1 1 146108171T> C null R G 1577 1577 missense 0.91 probably damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785367 1q21.1 1 146108144C> G null E Q 1586 1586 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782245589 1q21.1 1 146108129G> A null P S 1591 1591 missense 0.99 probably damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782390358 1q21.1 1 146108125C> A null C F 1592 1592 missense 0.997 probably damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782014893 1q21.1 1 146108122G> A null P L 1593 1593 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785193 1q21.1 1 146107516C> G null R S 1594 1594 missense 0.991 probably damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785192 1q21.1 1 146107515G> C null L V 1595 1595 missense 0.992 probably damaging 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785180 1q21.1 1 146107512T> C null S G 1596 1596 missense 0.969 probably damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785178 1q21.1 1 146107507C> A null R S 1597 1597 missense 0.882 possibly damaging 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553785174 1q21.1 1 146107503G> C null L V 1599 1599 missense 0.992 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785172 1q21.1 1 146107500G> C null L V 1600 1600 missense 0.992 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785170 1q21.1 1 146107496T> G null D A 1601 1601 missense 0.978 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553785168 1q21.1 1 146107495A> T null D E 1601 1601 missense 0.646 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785171 1q21.1 1 146107497C> G null D H 1601 1601 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs200726604 1q21.1 1 146107487C> T null G E 1604 1604 missense 0.832 possibly damaging 0.76 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785159 1q21.1 1 146107484G> T null P H 1605 1605 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785159 1q21.1 1 146107484G> C null P R 1605 1605 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785161 1q21.1 1 146107485G> A null P S 1605 1605 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785155 1q21.1 1 146107474C> A null L F 1608 1608 missense 0.998 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782540735 1q21.1 1 146107464G> C null L V 1612 1612 missense 0.867 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785153 1q21.1 1 146107457C> T null R K 1614 1614 missense 0.953 probably damaging 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785153 1q21.1 1 146107457C> G null R T 1614 1614 missense 0.937 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782681222 1q21.1 1 146107455A> T null C S 1615 1615 missense 0.006 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785150 1q21.1 1 146107452A> G null Y H 1616 1616 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs61816441 1q21.1 1 146107451T> G null Y S 1616 1616 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785145 1q21.1 1 146107436C> G null G A 1621 1621 missense 0.97 probably damaging 0.8 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785147 1q21.1 1 146107437C> A null G C 1621 1621 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785145 1q21.1 1 146107436C> T null G D 1621 1621 missense 0.994 probably damaging 0.63 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782217795 1q21.1 1 146107433C> T null C Y 1622 1622 missense 0.153 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785143 1q21.1 1 146107428C> A null E * 1624 1624 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785143 1q21.1 1 146107428C> G null E Q 1624 1624 missense 0.995 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785138 1q21.1 1 146107421G> T null T N 1626 1626 missense 0.962 probably damaging 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782370470 1q21.1 1 146107422T> G null T P 1626 1626 missense 0.316 benign 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782370470 1q21.1 1 146107422T> A null T S 1626 1626 missense 0.882 possibly damaging 0.77 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785138 1q21.1 1 146107421G> C null T S 1626 1626 missense 0.882 possibly damaging 0.77 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782645947 1q21.1 1 146107415G> A null S L 1628 1628 missense 0.991 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782301778 1q21.1 1 146107413A> C null C G 1629 1629 missense 0.991 probably damaging 0.45 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785136 1q21.1 1 146107407G> A null P S 1631 1631 missense 0.998 probably damaging 0.56 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785135 1q21.1 1 146107403T> C null Y C 1632 1632 missense 0.999 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785135 1q21.1 1 146107403T> A null Y F 1632 1632 missense 0.992 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785134 1q21.1 1 146107398T> G null S R 1634 1634 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785132 1q21.1 1 146107395C> A null A S 1635 1635 missense 0.646 possibly damaging 0.54 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785129 1q21.1 1 146107386C> T null V I 1638 1638 missense 0.013 benign 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785127 1q21.1 1 146107374G> C null Q E 1642 1642 missense 0.821 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs376830820 1q21.1 1 146107370T> C null H R 1643 1643 missense 0.001 benign 0.6 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785124 1q21.1 1 146107371G> A null H Y 1643 1643 missense 0.3 benign 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785122 1q21.1 1 146107364C> T null G D 1645 1645 missense 0.999 probably damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785123 1q21.1 1 146107365C> T null G S 1645 1645 missense 0.999 probably damaging 0.97 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785120 1q21.1 1 146107360C> G null L F 1646 1646 missense 0.413 benign 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs368993195 1q21.1 1 146107362A> T null L M 1646 1646 missense 0.984 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs368993195 1q21.1 1 146107362A> C null L V 1646 1646 missense 0.92 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785119 1q21.1 1 146107359C> A null A S 1647 1647 missense 0.646 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785060 1q21.1 1 146106615T> C null K R 1655 1655 missense 0.986 probably damaging 0.56 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs61813367 1q21.1 1 146106610G> T null Q K 1657 1657 missense 0.076 benign 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553785020 1q21.1 1 146105946C> A null E D 1679 1679 missense 0.622 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553785016 1q21.1 1 146105905G> A null T I 1693 1693 missense 0.01 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553785014 1q21.1 1 146105897C> T null G S 1696 1696 missense 0.205 benign 0.89 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553785013 1q21.1 1 146105891G> C null L V 1698 1698 missense 0.715 possibly damaging 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784886 1q21.1 1 146105093T> G null R S 1727 1727 missense 0.522 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784884 1q21.1 1 146105091A> G null I T 1728 1728 missense 0.003 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784883 1q21.1 1 146105082T> C null D G 1731 1731 missense 0.705 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs5020715 1q21.1 1 146105080G> C null Q E 1732 1732 missense 0.003 benign 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1383841233 1q21.1 1 146105063G> C null D E 1737 1737 missense 0.637 possibly damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784871 1q21.1 1 146105058C> T null G D 1739 1739 missense 0.001 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784870 1q21.1 1 146105047G> A null P S 1743 1743 missense 0.211 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782800301 1q21.1 1 146104380G> C null L V 1750 1750 missense 0.003 benign 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784726 1q21.1 1 146104375C> A null E D 1751 1751 missense 0.043 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs371538731 1q21.1 1 146104373A> G null V A 1752 1752 missense 0.018 benign 0.88 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782046712 1q21.1 1 146104370A> G null V A 1753 1753 missense 0.068 benign 0.71 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782710550 1q21.1 1 146104367T> G null E A 1754 1754 missense 0.622 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782710550 1q21.1 1 146104367T> C null E G 1754 1754 missense 0.043 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs374023357 1q21.1 1 146104352T> A null Q L 1759 1759 missense 0.029 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784723 1q21.1 1 146104337C> T null R K 1764 1764 missense 0.127 benign 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784718 1q21.1 1 146104323G> T null P T 1769 1769 missense 0.878 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781814927 1q21.1 1 146104291G> C null C W 1779 1779 missense 0.04 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs368214052 1q21.1 1 146104289T> A null Q L 1780 1780 missense 0.029 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784712 1q21.1 1 146104287G> C null P A 1781 1781 missense 0.444 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784710 1q21.1 1 146104283T> C null Y C 1782 1782 missense 0.168 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784704 1q21.1 1 146104280C> T null G E 1783 1783 missense 0.21 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784705 1q21.1 1 146104281C> T null G R 1783 1783 missense 0.062 benign 0.46 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782624134 1q21.1 1 146104277C> A null S I 1784 1784 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781868950 1q21.1 1 146104270A> C null F L 1786 1786 missense 0.138 benign 0.72 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784698 1q21.1 1 146104269A> G null Y H 1787 1787 missense 0.138 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784697 1q21.1 1 146104265G> A null A V 1788 1788 missense 0.062 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784691 1q21.1 1 146104261C> A null L F 1789 1789 missense 0.444 benign 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784688 1q21.1 1 146104259T> C null E G 1790 1790 missense 0.766 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782573393 1q21.1 1 146104257C> T null E K 1791 1791 missense 0.715 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784682 1q21.1 1 146104254T> A null K * 1792 1792 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs372069112 1q21.1 1 146104252T> G null K N 1792 1792 missense 0.522 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784672 1q21.1 1 146104238G> C null S C 1797 1797 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784669 1q21.1 1 146104233C> G null D H 1799 1799 missense 0.246 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784665 1q21.1 1 146104230C> T null V M 1800 1800 missense 0.26 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784660 1q21.1 1 146104227C> A null G * 1801 1801 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784628 1q21.1 1 146102797G> A null L F 1839 1839 missense 0.943 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784625 1q21.1 1 146102777A> T null D E 1845 1845 missense 0.051 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs201071115 1q21.1 1 146102769C> T null G E 1848 1848 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784624 1q21.1 1 146102746G> C null L V 1856 1856 missense 0.87 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs61813377 1q21.1 1 146102733T> G null Y S 1860 1860 missense 0.887 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784614 1q21.1 1 146102715C> T null C Y 1866 1866 missense 0.021 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784612 1q21.1 1 146102685T> C null Y C 1876 1876 missense 0.974 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs61813378 1q21.1 1 146102652T> C null H R 1887 1887 missense 0.0 benign 0.91 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784611 1q21.1 1 146102647C> T null G S 1889 1889 missense 0.986 probably damaging 0.99 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs200148977 1q21.1 1 146102632T> G null M L 1894 1894 missense 0.136 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784556 1q21.1 1 146101892G> T null Q K 1901 1901 missense 0.007 benign 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs201761839 1q21.1 1 146101877C> A null D Y 1906 1906 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs200196129 1q21.1 1 146101868G> T null P T 1909 1909 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs201226413 1q21.1 1 146101228C> A null E D 1923 1923 missense 0.938 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784543 1q21.1 1 146101199C> T null R K 1933 1933 missense 0.97 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784541 1q21.1 1 146101187G> A null T I 1937 1937 missense 0.023 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784539 1q21.1 1 146101179C> T null G S 1940 1940 missense 0.999 probably damaging 0.75 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784538 1q21.1 1 146101173G> C null L V 1942 1942 missense 0.99 probably damaging 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784534 1q21.1 1 146101154C> T null G D 1948 1948 missense 0.999 probably damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784464 1q21.1 1 146100373A> G null I T 1972 1972 missense 0.001 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784462 1q21.1 1 146100364T> C null D G 1975 1975 missense 0.954 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs202174085 1q21.1 1 146100362G> C null Q E 1976 1976 missense 0.001 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784459 1q21.1 1 146100345G> C null D E 1981 1981 missense 0.893 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784454 1q21.1 1 146100340C> T null G D 1983 1983 missense 0.007 benign 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784453 1q21.1 1 146100329G> A null P S 1987 1987 missense 0.954 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784278 1q21.1 1 146099673G> A null L F 1989 1989 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784277 1q21.1 1 146099667T> A null R W 1991 1991 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784275 1q21.1 1 146099661G> C null L V 1993 1993 missense 0.87 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782306382 1q21.1 1 146099658G> C null L V 1994 1994 missense 0.87 possibly damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784273 1q21.1 1 146099651A> G null V A 1996 1996 missense 0.68 possibly damaging 0.92 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784270 1q21.1 1 146099648A> G null V A 1997 1997 missense 0.68 possibly damaging 0.65 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784268 1q21.1 1 146099640C> G null E Q 2000 2000 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784264 1q21.1 1 146099628C> T null D N 2004 2004 missense 0.932 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784263 1q21.1 1 146099619C> G null D H 2007 2007 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784261 1q21.1 1 146099612C> T null C Y 2009 2009 missense 0.879 possibly damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784260 1q21.1 1 146099603G> A null T I 2012 2012 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784258 1q21.1 1 146099586C> G null E Q 2018 2018 missense 0.888 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784255 1q21.1 1 146099569G> C null C W 2023 2023 missense 0.961 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784257 1q21.1 1 146099570C> T null C Y 2023 2023 missense 0.879 possibly damaging 0.9 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784253 1q21.1 1 146099567T> A null Q L 2024 2024 missense 0.465 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784249 1q21.1 1 146099558C> G null G A 2027 2027 missense 0.978 probably damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784250 1q21.1 1 146099559C> T null G R 2027 2027 missense 0.996 probably damaging 0.79 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781930890 1q21.1 1 146099548A> C null F L 2030 2030 missense 0.68 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784246 1q21.1 1 146099547A> G null Y H 2031 2031 missense 0.887 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784245 1q21.1 1 146099543G> A null A V 2032 2032 missense 0.916 probably damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784241 1q21.1 1 146099535C> T null E K 2035 2035 missense 0.828 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781852264 1q21.1 1 146099530T> G null K N 2036 2036 missense 0.888 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784237 1q21.1 1 146099529G> C null H D 2037 2037 missense 0.774 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784235 1q21.1 1 146099528T> A null H L 2037 2037 missense 0.774 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784234 1q21.1 1 146099517A> G null S P 2041 2041 missense 0.838 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784232 1q21.1 1 146099516G> T null S Y 2041 2041 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784229 1q21.1 1 146099511C> A null D Y 2043 2043 missense 0.986 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784222 1q21.1 1 146099508C> T null V M 2044 2044 missense 0.951 probably damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784183 1q21.1 1 146098055A> T null D E 2089 2089 missense 0.621 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784184 1q21.1 1 146098057C> G null D H 2089 2089 missense 0.934 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs200524325 1q21.1 1 146098047C> T null G E 2092 2092 missense 0.969 probably damaging 0.72 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784181 1q21.1 1 146098024G> C null L V 2100 2100 missense 0.567 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs201431074 1q21.1 1 146098011T> G null Y S 2104 2104 missense 0.607 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784179 1q21.1 1 146097993C> T null C Y 2110 2110 missense 0.588 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784177 1q21.1 1 146097963T> C null Y C 2120 2120 missense 0.878 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784176 1q21.1 1 146097930T> C null H R 2131 2131 missense 0.0 benign 0.7 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784175 1q21.1 1 146097925C> T null G S 2133 2133 missense 0.931 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784156 1q21.1 1 146097170G> T null Q K 2145 2145 missense 0.092 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs200782447 1q21.1 1 146097146G> T null P T 2153 2153 missense 0.803 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784117 1q21.1 1 146096506C> A null E D 2167 2167 missense 0.068 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784115 1q21.1 1 146096477C> T null R K 2177 2177 missense 0.455 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784113 1q21.1 1 146096465G> A null T I 2181 2181 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784112 1q21.1 1 146096457C> T null G S 2184 2184 missense 0.986 probably damaging 0.87 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784111 1q21.1 1 146096451G> C null L V 2186 2186 missense 0.567 possibly damaging 0.46 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784110 1q21.1 1 146096432C> T null G D 2192 2192 missense 0.969 probably damaging 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553784107 1q21.1 1 146096419G> T null S R 2196 2196 missense 0.503 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784036 1q21.1 1 146095651A> G null I T 2216 2216 missense 0.0 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784035 1q21.1 1 146095642T> C null D G 2219 2219 missense 0.728 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs201403623 1q21.1 1 146095640G> C null Q E 2220 2220 missense 0.092 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs782610674 1q21.1 1 146095618C> T null G D 2227 2227 missense 0.969 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553784030 1q21.1 1 146095607G> A null P S 2231 2231 missense 0.803 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783843 1q21.1 1 146094936G> C null L V 2238 2238 missense 0.567 possibly damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783842 1q21.1 1 146094929A> G null V A 2240 2240 missense 0.294 benign 0.73 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783840 1q21.1 1 146094906C> T null D N 2248 2248 missense 0.728 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783839 1q21.1 1 146094845T> A null Q L 2268 2268 missense 0.145 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783837 1q21.1 1 146094837C> T null G R 2271 2271 missense 0.979 probably damaging 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783835 1q21.1 1 146094826A> C null F L 2274 2274 missense 0.294 benign 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783833 1q21.1 1 146094821G> A null A V 2276 2276 missense 0.682 possibly damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781796911 1q21.1 1 146094808T> G null K N 2280 2280 missense 0.607 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783830 1q21.1 1 146094806T> A null H L 2281 2281 missense 0.402 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783827 1q21.1 1 146094786C> T null V M 2288 2288 missense 0.791 possibly damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1397569817 1q21.1 1 146093333A> T null D E 2333 2333 missense 0.621 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs199587917 1q21.1 1 146093325C> T null G E 2336 2336 missense 0.969 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1445570491 1q21.1 1 146093326C> T null G R 2336 2336 missense 0.979 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1445571145 1q21.1 1 146093302G> C null L V 2344 2344 missense 0.567 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1283483853 1q21.1 1 146093296T> C null R G 2346 2346 missense 0.291 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs200641759 1q21.1 1 146093289T> G null Y S 2348 2348 missense 0.607 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553783765 1q21.1 1 146093271C> T null C Y 2354 2354 missense 0.879 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1256223652 1q21.1 1 146093250C> A null C F 2361 2361 missense 0.839 possibly damaging 0.96 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1216309186 1q21.1 1 146093251A> G null C R 2361 2361 missense 0.879 possibly damaging 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1317444898 1q21.1 1 146093246C> G null Q H 2362 2362 missense 0.763 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1204475489 1q21.1 1 146093241T> C null Y C 2364 2364 missense 0.974 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1441005103 1q21.1 1 146093215G> C null Q E 2373 2373 missense 0.758 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1243098896 1q21.1 1 146093210C> G null Q H 2374 2374 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1476664951 1q21.1 1 146093208T> C null H R 2375 2375 missense 0.0 benign 0.88 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1169245063 1q21.1 1 146093206C> G null V L 2376 2376 missense 0.125 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1420744796 1q21.1 1 146093203C> T null G S 2377 2377 missense 0.944 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1464658065 1q21.1 1 146093198C> G null L F 2378 2378 missense 0.974 probably damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1378915814 1q21.1 1 146092453T> C null K R 2387 2387 missense 0.92 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs201882371 1q21.1 1 146092448G> T null Q K 2389 2389 missense 0.003 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs200164957 1q21.1 1 146092433C> A null D Y 2394 2394 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1419621556 1q21.1 1 146092430G> A null Q * 2395 2395 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs200900938 1q21.1 1 146092424G> T null P T 2397 2397 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs201689371 1q21.1 1 146091784C> A null E D 2411 2411 missense 0.764 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553783647 1q21.1 1 146091743G> A null T I 2425 2425 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783646 1q21.1 1 146091735C> T null G S 2428 2428 missense 0.986 probably damaging 0.77 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783645 1q21.1 1 146091729G> C null L V 2430 2430 missense 0.87 possibly damaging 0.43 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783644 1q21.1 1 146091710C> T null G D 2436 2436 missense 0.994 probably damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783643 1q21.1 1 146091697G> T null S R 2440 2440 missense 0.838 possibly damaging 0.7 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783535 1q21.1 1 146090929A> G null I T 2460 2460 missense 0.0 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783532 1q21.1 1 146090920T> C null D G 2463 2463 missense 0.932 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs199910991 1q21.1 1 146090918G> C null Q E 2464 2464 missense 0.34 benign 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553783518 1q21.1 1 146090901G> C null D E 2469 2469 missense 0.963 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs782294249 1q21.1 1 146090896T> C null D G 2471 2471 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1172760067 1q21.1 1 146090888A> G null C R 2474 2474 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783516 1q21.1 1 146090885G> A null P S 2475 2475 missense 0.954 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1298206121 1q21.1 1 146090218G> C null L V 2482 2482 missense 0.754 possibly damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781839286 1q21.1 1 146090211A> G null V A 2484 2484 missense 0.169 benign 0.89 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783306 1q21.1 1 146090208A> G null V A 2485 2485 missense 0.68 possibly damaging 0.63 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783305 1q21.1 1 146090127T> A null Q L 2512 2512 missense 0.465 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783301 1q21.1 1 146090119C> T null G R 2515 2515 missense 0.996 probably damaging 0.81 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783300 1q21.1 1 146090108A> C null F L 2518 2518 missense 0.68 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781937759 1q21.1 1 146090090T> G null K N 2524 2524 missense 0.888 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783294 1q21.1 1 146090068C> T null V M 2532 2532 missense 0.951 probably damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783203 1q21.1 1 146088635G> A null L F 2571 2571 missense 0.765 possibly damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs370191373 1q21.1 1 146088615A> T null D E 2577 2577 missense 0.621 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553783198 1q21.1 1 146088617C> G null D H 2577 2577 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs200984151 1q21.1 1 146088607C> T null G E 2580 2580 missense 0.969 probably damaging 0.84 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783192 1q21.1 1 146088608C> T null G R 2580 2580 missense 0.979 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783191 1q21.1 1 146088599C> T null V I 2583 2583 missense 0.198 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783188 1q21.1 1 146088594C> G null L F 2584 2584 missense 0.765 possibly damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783185 1q21.1 1 146088590C> A null D Y 2586 2586 missense 0.934 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs201797880 1q21.1 1 146088583A> T null L Q 2588 2588 missense 0.883 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783184 1q21.1 1 146088584G> C null L V 2588 2588 missense 0.567 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783179 1q21.1 1 146088578T> C null R G 2590 2590 missense 0.291 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783177 1q21.1 1 146088577C> T null R K 2590 2590 missense 0.14 benign 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783177 1q21.1 1 146088577C> G null R T 2590 2590 missense 0.402 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs200087380 1q21.1 1 146088571T> G null Y S 2592 2592 missense 0.607 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783173 1q21.1 1 146088553C> T null C Y 2598 2598 missense 0.588 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783170 1q21.1 1 146088551G> A null L F 2599 2599 missense 0.765 possibly damaging 0.72 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783168 1q21.1 1 146088547T> A null E V 2600 2600 missense 0.607 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783164 1q21.1 1 146088538T> C null D G 2603 2603 missense 0.728 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783162 1q21.1 1 146088528C> G null Q H 2606 2606 missense 0.387 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783160 1q21.1 1 146088523T> C null Y C 2608 2608 missense 0.878 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783155 1q21.1 1 146088497G> C null Q E 2617 2617 missense 0.092 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783154 1q21.1 1 146088492C> G null Q H 2618 2618 missense 0.387 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs782111480 1q21.1 1 146088490T> C null H R 2619 2619 missense 0.0 benign 0.51 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783153 1q21.1 1 146088488C> G null V L 2620 2620 missense 0.198 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783152 1q21.1 1 146088484C> G null G A 2621 2621 missense 0.899 possibly damaging 0.68 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs782817513 1q21.1 1 146088485C> T null G S 2621 2621 missense 0.931 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783151 1q21.1 1 146088480C> G null L F 2622 2622 missense 0.765 possibly damaging 0.43 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs201072401 1q21.1 1 146088470T> G null M L 2626 2626 missense 0.018 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783054 1q21.1 1 146087735T> C null K R 2631 2631 missense 0.486 possibly damaging 0.56 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs71245261 1q21.1 1 146087730G> T null Q K 2633 2633 missense 0.0 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs202161196 1q21.1 1 146087715C> A null D Y 2638 2638 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs200531342 1q21.1 1 146087706G> T null P T 2641 2641 missense 0.803 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553783012 1q21.1 1 146087066C> A null E D 2655 2655 missense 0.764 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1277953379 1q21.1 1 146087054C> A null L F 2659 2659 missense 0.943 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1485271050 1q21.1 1 146087050C> G null D H 2661 2661 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559322460 1q21.1 1 146087040T> C null D G 2664 2664 missense 0.932 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783009 1q21.1 1 146087025G> A null T I 2669 2669 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783008 1q21.1 1 146087017C> T null G S 2672 2672 missense 0.986 probably damaging 0.88 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553783007 1q21.1 1 146087011G> C null L V 2674 2674 missense 0.87 possibly damaging 0.53 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553783005 1q21.1 1 146087001G> A null P L 2677 2677 missense 0.967 probably damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1186124117 1q21.1 1 146086992C> T null G D 2680 2680 missense 0.994 probably damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1426186149 1q21.1 1 146086981T> A null S C 2684 2684 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553783003 1q21.1 1 146086979G> T null S R 2684 2684 missense 0.838 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1435159448 1q21.1 1 146086945C> A null G C 2696 2696 missense 0.997 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1174334441 1q21.1 1 146086930C> T null V M 2701 2701 missense 0.951 probably damaging 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782906 1q21.1 1 146086202G> C null D E 2707 2707 missense 0.893 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782909 1q21.1 1 146086203T> C null D G 2707 2707 missense 0.932 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs202000355 1q21.1 1 146086201G> C null Q E 2708 2708 missense 0.34 benign 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1380794888 1q21.1 1 146086193C> G null E D 2710 2710 missense 0.764 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782894 1q21.1 1 146086195C> T null E K 2710 2710 missense 0.828 possibly damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1455302034 1q21.1 1 146086184G> C null D E 2713 2713 missense 0.893 possibly damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs199805476 1q21.1 1 146086179C> T null G D 2715 2715 missense 0.994 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782885 1q21.1 1 146086170C> A null C F 2718 2718 missense 0.921 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553782882 1q21.1 1 146086168G> A null P S 2719 2719 missense 0.979 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782657 1q21.1 1 146085506T> A null R W 2723 2723 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs200265751 1q21.1 1 146085497G> C null L V 2726 2726 missense 0.99 probably damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782193645 1q21.1 1 146085490A> G null V A 2728 2728 missense 0.093 benign 0.9 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs376858837 1q21.1 1 146085487A> G null V A 2729 2729 missense 0.874 possibly damaging 0.69 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782651 1q21.1 1 146085408G> C null C W 2755 2755 missense 0.997 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1394962644 1q21.1 1 146085406T> A null Q L 2756 2756 missense 0.093 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782648 1q21.1 1 146085403G> A null P L 2757 2757 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781959146 1q21.1 1 146085387A> C null F L 2762 2762 missense 0.981 probably damaging 0.7 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782643 1q21.1 1 146085385T> C null Y C 2763 2763 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782646 1q21.1 1 146085386A> G null Y H 2763 2763 missense 0.997 probably damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1159116076 1q21.1 1 146085369T> G null K N 2768 2768 missense 0.919 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782636 1q21.1 1 146085347C> T null V M 2776 2776 missense 0.665 possibly damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782565 1q21.1 1 146084623A> T null I N 2779 2779 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782563 1q21.1 1 146084621C> T null E K 2780 2780 missense 0.937 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782562 1q21.1 1 146084617T> A null K M 2781 2781 missense 0.984 probably damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782560 1q21.1 1 146084616C> A null K N 2781 2781 missense 0.922 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782559 1q21.1 1 146084613C> G null K N 2782 2782 missense 0.937 probably damaging 0.52 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782557 1q21.1 1 146084612C> T null G R 2783 2783 missense 0.996 probably damaging 0.53 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782552 1q21.1 1 146084593C> A null R M 2789 2789 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782550 1q21.1 1 146084592C> A null R S 2789 2789 missense 0.995 probably damaging 0.85 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782548 1q21.1 1 146084590C> T null G E 2790 2790 missense 1.0 probably damaging 0.43 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782546 1q21.1 1 146084587C> A null R I 2791 2791 missense 0.998 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782545 1q21.1 1 146084581G> C null S * 2793 2793 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782543 1q21.1 1 146084573C> T null E K 2796 2796 missense 0.29 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559321326 1q21.1 1 146084569C> T null R K 2797 2797 missense 0.988 probably damaging 0.58 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782542 1q21.1 1 146084567T> C null R G 2798 2798 missense 0.993 probably damaging 0.43 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782539 1q21.1 1 146084565T> G null R S 2798 2798 missense 0.99 probably damaging 0.64 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782537 1q21.1 1 146084561C> T null G R 2800 2800 missense 1.0 probably damaging 0.84 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782535 1q21.1 1 146084549C> T null G R 2804 2804 missense 0.92 probably damaging 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs587626556 1q21.1 1 146084532G> C null N K 2809 2809 0.001198 missense 0.012 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782531 1q21.1 1 146084530G> A null P L 2810 2810 missense 0.351 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782334 1q21.1 1 146083909C> A null R S 2814 2814 missense 0.959 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782331 1q21.1 1 146083905T> C null S G 2816 2816 missense 0.622 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782329 1q21.1 1 146083904C> A null S I 2816 2816 missense 0.778 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782327 1q21.1 1 146083903G> C null S R 2816 2816 missense 0.778 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782462084 1q21.1 1 146083901C> T null R K 2817 2817 missense 0.4 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782462084 1q21.1 1 146083901C> A null R M 2817 2817 missense 0.927 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782325 1q21.1 1 146083902T> A null R W 2817 2817 missense 0.945 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782320 1q21.1 1 146083896G> C null L V 2819 2819 missense 0.878 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553782312 1q21.1 1 146083888A> T null D E 2821 2821 missense 0.994 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781835762 1q21.1 1 146083890C> G null D H 2821 2821 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782311 1q21.1 1 146083886T> C null E G 2822 2822 missense 0.993 probably damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782308 1q21.1 1 146083882T> G null K N 2823 2823 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs372557852 1q21.1 1 146083880C> T null G E 2824 2824 missense 0.999 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1462173536 1q21.1 1 146083877G> T null P H 2825 2825 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782301 1q21.1 1 146083875C> T null E K 2826 2826 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782301 1q21.1 1 146083875C> G null E Q 2826 2826 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782295 1q21.1 1 146083866G> A null Q * 2829 2829 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782295 1q21.1 1 146083866G> C null Q E 2829 2829 missense 0.939 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782292 1q21.1 1 146083862T> C null D G 2830 2830 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1392816607 1q21.1 1 146083857G> C null L V 2832 2832 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782282 1q21.1 1 146083853T> C null D G 2833 2833 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782281 1q21.1 1 146083850C> A null R I 2834 2834 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782280 1q21.1 1 146083848A> T null C S 2835 2835 missense 0.005 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs201293507 1q21.1 1 146083844T> G null Y S 2836 2836 missense 0.997 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782276 1q21.1 1 146083841G> A null S L 2837 2837 missense 0.988 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1330198259 1q21.1 1 146083835G> A null P L 2839 2839 missense 0.998 probably damaging 0.62 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782274 1q21.1 1 146083829C> A null G V 2841 2841 missense 0.999 probably damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782276865 1q21.1 1 146083826C> A null C F 2842 2842 missense 0.648 possibly damaging 0.69 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782276865 1q21.1 1 146083826C> T null C Y 2842 2842 missense 0.093 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782269 1q21.1 1 146083817A> G null L P 2845 2845 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782412569 1q21.1 1 146083818G> C null L V 2845 2845 missense 0.99 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782267 1q21.1 1 146083814G> T null T N 2846 2846 missense 0.896 possibly damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782211523 1q21.1 1 146083815T> G null T P 2846 2846 missense 0.964 probably damaging 0.79 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782267 1q21.1 1 146083814G> C null T S 2846 2846 missense 0.85 possibly damaging 0.77 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782211523 1q21.1 1 146083815T> A null T S 2846 2846 missense 0.85 possibly damaging 0.77 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782265 1q21.1 1 146083810G> T null D E 2847 2847 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782359978 1q21.1 1 146083808G> C null S * 2848 2848 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782359978 1q21.1 1 146083808G> A null S L 2848 2848 missense 0.988 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782263 1q21.1 1 146083805C> A null C F 2849 2849 missense 0.996 probably damaging 0.86 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781989407 1q21.1 1 146083806A> C null C G 2849 2849 missense 0.988 probably damaging 0.56 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782262 1q21.1 1 146083804G> C null C W 2849 2849 missense 0.997 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782260 1q21.1 1 146083802T> G null Q P 2850 2850 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782258 1q21.1 1 146083800G> A null P S 2851 2851 missense 0.997 probably damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1338084013 1q21.1 1 146083796T> C null Y C 2852 2852 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782254 1q21.1 1 146083794T> A null R * 2853 2853 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782251 1q21.1 1 146083792T> G null R S 2853 2853 missense 0.988 probably damaging 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782250 1q21.1 1 146083790C> T null S N 2854 2854 missense 0.981 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782250 1q21.1 1 146083790C> G null S T 2854 2854 missense 0.981 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782249 1q21.1 1 146083788C> G null A P 2855 2855 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782249 1q21.1 1 146083788C> T null A T 2855 2855 missense 0.996 probably damaging 0.56 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782244 1q21.1 1 146083783A> C null F L 2856 2856 missense 0.981 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782246 1q21.1 1 146083785A> C null F V 2856 2856 missense 0.988 probably damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782245 1q21.1 1 146083784A> T null F Y 2856 2856 missense 0.981 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782413944 1q21.1 1 146083779C> T null V I 2858 2858 missense 0.034 benign 0.53 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782238 1q21.1 1 146083775A> G null L S 2859 2859 missense 0.997 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782240 1q21.1 1 146083776A> C null L V 2859 2859 missense 0.99 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782236 1q21.1 1 146083773C> G null E Q 2860 2860 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782229 1q21.1 1 146083770G> C null Q E 2861 2861 missense 0.939 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1233598101 1q21.1 1 146083765C> G null Q H 2862 2862 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782223 1q21.1 1 146083762A> C null H Q 2863 2863 missense 0.076 benign 0.49 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs199712346 1q21.1 1 146083763T> C null H R 2863 2863 0.08347 missense 0.001 benign 0.81 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782225 1q21.1 1 146083764G> A null H Y 2863 2863 missense 0.245 benign 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782701708 1q21.1 1 146083761C> A null V F 2864 2864 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782701708 1q21.1 1 146083761C> T null V I 2864 2864 missense 0.976 probably damaging 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1467007762 1q21.1 1 146083758C> T null G S 2865 2865 missense 0.999 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782220 1q21.1 1 146083757C> A null G V 2865 2865 missense 0.999 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782217 1q21.1 1 146083753C> G null L F 2866 2866 missense 0.896 possibly damaging 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782219 1q21.1 1 146083755A> T null L M 2866 2866 missense 0.978 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781813405 1q21.1 1 146083746C> G null D H 2869 2869 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781813405 1q21.1 1 146083746C> T null D N 2869 2869 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs199823652 1q21.1 1 146083743T> G null M L 2870 2870 missense 0.8 possibly damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782212 1q21.1 1 146083742A> C null M R 2870 2870 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs199823652 1q21.1 1 146083743T> C null M V 2870 2870 missense 0.8 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782210 1q21.1 1 146083740C> G null D H 2871 2871 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782207 1q21.1 1 146083739T> A null D V 2871 2871 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782053 1q21.1 1 146083012C> T null E K 2874 2874 missense 0.99 probably damaging 0.42 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782050 1q21.1 1 146083008T> C null K R 2875 2875 missense 0.99 probably damaging 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782047 1q21.1 1 146083005T> C null Y C 2876 2876 missense 0.997 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs200523906 1q21.1 1 146083003G> C null Q E 2877 2877 missense 0.045 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs200523906 1q21.1 1 146083003G> T null Q K 2877 2877 missense 0.007 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782042 1q21.1 1 146082999T> C null E G 2878 2878 missense 0.913 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782040 1q21.1 1 146082997C> G null V L 2879 2879 missense 0.685 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782040 1q21.1 1 146082997C> T null V M 2879 2879 missense 0.962 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782039 1q21.1 1 146082985G> C null Q E 2883 2883 missense 0.939 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782037 1q21.1 1 146082984T> C null Q R 2883 2883 missense 0.974 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587649745 1q21.1 1 146082981T> C null D G 2884 2884 3.99E-4 missense 0.996 probably damaging 0.49 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782034 1q21.1 1 146082975G> C null S * 2886 2886 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782033 1q21.1 1 146082972C> A null C F 2887 2887 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553782032 1q21.1 1 146082970G> A null P S 2888 2888 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781861 1q21.1 1 146082365T> C null S G 2891 2891 missense 0.981 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781859 1q21.1 1 146082362T> C null R G 2892 2892 missense 0.237 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781857 1q21.1 1 146082361C> T null R K 2892 2892 missense 0.961 probably damaging 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781857 1q21.1 1 146082361C> G null R T 2892 2892 missense 0.974 probably damaging 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes rs587613262 1q21.1 1 146082355A> G null L P 2894 2894 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781851 1q21.1 1 146082356G> C null L V 2894 2894 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782319606 1q21.1 1 146082349T> G null D A 2896 2896 missense 0.998 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782319606 1q21.1 1 146082349T> A null D V 2896 2896 missense 0.999 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781845 1q21.1 1 146082347C> T null E K 2897 2897 missense 0.992 probably damaging 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781845 1q21.1 1 146082347C> G null E Q 2897 2897 missense 0.995 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781840 1q21.1 1 146082342T> G null K N 2898 2898 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs200371222 1q21.1 1 146082339C> G null E D 2899 2899 missense 0.021 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs200371222 1q21.1 1 146082339C> A null E D 2899 2899 missense 0.021 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781942968 1q21.1 1 146082340T> C null E G 2899 2899 missense 0.018 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781839 1q21.1 1 146082338G> C null P A 2900 2900 missense 0.622 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781839 1q21.1 1 146082338G> T null P T 2900 2900 missense 0.622 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781836 1q21.1 1 146082335C> A null E * 2901 2901 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs374004397 1q21.1 1 146082321G> C null D E 2905 2905 missense 0.531 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781831 1q21.1 1 146082319G> A null S L 2906 2906 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781832 1q21.1 1 146082320A> G null S P 2906 2906 missense 0.351 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781829 1q21.1 1 146082317G> T null L M 2907 2907 missense 0.988 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782352751 1q21.1 1 146082313T> C null D G 2908 2908 missense 0.95 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781827 1q21.1 1 146082314C> G null D H 2908 2908 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781827 1q21.1 1 146082314C> T null D N 2908 2908 missense 0.679 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781824 1q21.1 1 146082310C> A null R I 2909 2909 missense 0.062 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781822 1q21.1 1 146082309T> A null R S 2909 2909 missense 0.522 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781818 1q21.1 1 146082308A> G null C R 2910 2910 missense 0.181 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781809 1q21.1 1 146082306A> C null C W 2910 2910 missense 0.94 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781806 1q21.1 1 146082305A> G null Y H 2911 2911 missense 0.975 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781803 1q21.1 1 146082301G> A null S L 2912 2912 missense 0.388 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782796381 1q21.1 1 146082298G> A null T I 2913 2913 missense 0.092 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781799 1q21.1 1 146082296G> C null P A 2914 2914 missense 0.668 possibly damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781798 1q21.1 1 146082295G> C null P R 2914 2914 missense 0.962 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781786 1q21.1 1 146082290C> T null G S 2916 2916 missense 0.074 benign 0.41 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781785 1q21.1 1 146082289C> A null G V 2916 2916 missense 0.1 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782033563 1q21.1 1 146082286T> C null Y C 2917 2917 missense 0.038 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781783 1q21.1 1 146082284G> A null L F 2918 2918 missense 0.062 benign 0.6 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782048657 1q21.1 1 146082283A> G null L P 2918 2918 missense 0.894 possibly damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781783 1q21.1 1 146082284G> C null L V 2918 2918 missense 0.087 benign 0.43 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782734824 1q21.1 1 146082281C> A null E * 2919 2919 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782734824 1q21.1 1 146082281C> G null E Q 2919 2919 missense 0.351 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781778 1q21.1 1 146082274G> C null P R 2921 2921 missense 0.062 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781779 1q21.1 1 146082275G> T null P T 2921 2921 missense 0.062 benign 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781776 1q21.1 1 146082267T> G null L F 2923 2923 missense 0.988 probably damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781777 1q21.1 1 146082268A> G null L S 2923 2923 missense 0.988 probably damaging 0.83 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781775 1q21.1 1 146082266C> A null G C 2924 2924 missense 0.999 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781773 1q21.1 1 146082265C> T null G D 2924 2924 missense 0.999 probably damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781775 1q21.1 1 146082266C> G null G R 2924 2924 missense 0.999 probably damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781775 1q21.1 1 146082266C> T null G S 2924 2924 missense 0.997 probably damaging 0.41 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781842060 1q21.1 1 146082255G> T null Y * 2927 2927 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781770 1q21.1 1 146082253C> T null S N 2928 2928 missense 0.938 probably damaging 0.46 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781768 1q21.1 1 146082252G> T null S R 2928 2928 missense 0.961 probably damaging 0.76 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781764 1q21.1 1 146082250C> G null S T 2929 2929 missense 0.91 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781763 1q21.1 1 146082248C> T null A T 2930 2930 missense 0.981 probably damaging 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781758 1q21.1 1 146082242A> G null Y H 2932 2932 missense 0.974 probably damaging 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781754 1q21.1 1 146082223_146082224ins C null Y * 2938 2938 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781753 1q21.1 1 146082222G> T null Y * 2938 2938 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587700669 1q21.1 1 146082221G> T null L I 2939 2939 0.005591 missense 0.97 probably damaging 0.49 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781751 1q21.1 1 146082218C> T null G S 2940 2940 missense 0.997 probably damaging 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781750 1q21.1 1 146082213C> G null L F 2941 2941 missense 0.988 probably damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs587752683 1q21.1 1 146082211G> T null A D 2942 2942 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781741 1q21.1 1 146082209G> A null L F 2943 2943 missense 0.988 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781738 1q21.1 1 146082208A> G null L P 2943 2943 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781736 1q21.1 1 146082204G> T null D E 2944 2944 missense 0.987 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782793635 1q21.1 1 146082203C> T null V M 2945 2945 missense 0.989 probably damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781604 1q21.1 1 146081484A> G null I T 2948 2948 missense 0.005 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1432053641 1q21.1 1 146081475T> C null D G 2951 2951 missense 0.985 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs201417779 1q21.1 1 146081473G> C null Q E 2952 2952 missense 0.712 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781597 1q21.1 1 146081456G> C null D E 2957 2957 missense 0.976 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781599 1q21.1 1 146081457T> C null D G 2957 2957 missense 0.985 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782468237 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146081451C> T null G D 2959 2959 missense 0.999 probably damaging 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781596 1q21.1 1 146081452C> G null G R 2959 2959 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781592 1q21.1 1 146081449G> T null P T 2960 2960 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781589 1q21.1 1 146081442C> A null C F 2962 2962 missense 0.962 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1455321605 1q21.1 1 146081440G> A null P S 2963 2963 missense 0.99 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781933219 1q21.1 1 146080761G> C null L V 2970 2970 missense 0.97 probably damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782104294 1q21.1 1 146080754A> G null V A 2972 2972 missense 0.91 probably damaging 0.97 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782767732 1q21.1 1 146080751A> G null V A 2973 2973 missense 0.91 probably damaging 0.64 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781426 1q21.1 1 146080733T> C null Q R 2979 2979 missense 0.806 possibly damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781425 1q21.1 1 146080715C> A null C F 2985 2985 missense 0.962 probably damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781424 1q21.1 1 146080707T> A null T S 2988 2988 missense 0.959 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781422 1q21.1 1 146080692G> C null L V 2993 2993 missense 0.97 probably damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781999968 1q21.1 1 146080672G> C null C W 2999 2999 missense 0.992 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782147145 1q21.1 1 146080670T> A null Q L 3000 3000 missense 0.806 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781420 1q21.1 1 146080668G> C null P A 3001 3001 missense 0.985 probably damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781418 1q21.1 1 146080664T> C null Y C 3002 3002 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781795861 1q21.1 1 146080651A> C null F L 3006 3006 missense 0.91 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781414 1q21.1 1 146080650A> G null Y H 3007 3007 missense 0.974 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781413 1q21.1 1 146080646G> A null A V 3008 3008 missense 0.981 probably damaging 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559318040 1q21.1 1 146080640T> C null E G 3010 3010 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781410 1q21.1 1 146080638C> T null E K 3011 3011 missense 0.959 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1344253946 1q21.1 1 146080633T> G null K N 3012 3012 missense 0.974 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781403 1q21.1 1 146080616A> G null L P 3018 3018 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781399 1q21.1 1 146080605C> T null E K 3022 3022 missense 0.915 probably damaging 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781276 1q21.1 1 146079175T> A null S C 3060 3060 missense 0.965 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781276 1q21.1 1 146079175T> C null S G 3060 3060 missense 0.68 possibly damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781274 1q21.1 1 146079171C> A null R M 3061 3061 missense 0.923 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781270 1q21.1 1 146079167C> A null E D 3062 3062 missense 0.764 possibly damaging 0.49 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781268 1q21.1 1 146079159T> G null D A 3065 3065 missense 0.932 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781266 1q21.1 1 146079158A> T null D E 3065 3065 missense 0.893 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781269 1q21.1 1 146079160C> G null D H 3065 3065 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs186759117 1q21.1 1 146079150C> T null G E 3068 3068 missense 0.006 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781262 1q21.1 1 146079151C> T null G R 3068 3068 missense 0.314 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs186759117 1q21.1 1 146079150C> A null G V 3068 3068 missense 0.469 possibly damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781262 1q21.1 1 146079151C> A null G W 3068 3068 missense 0.889 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782363001 1q21.1 1 146079148G> T null P T 3069 3069 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782407060 1q21.1 1 146079144T> C null E G 3070 3070 missense 0.892 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs371947186 1q21.1 1 146079145C> T null E K 3070 3070 0.1841 missense 0.828 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781250 1q21.1 1 146079141A> C null V G 3071 3071 missense 0.838 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781251 1q21.1 1 146079142C> T null V I 3071 3071 missense 0.558 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781244 1q21.1 1 146079133C> T null D N 3074 3074 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs782176416 1q21.1 1 146079127G> C null L V 3076 3076 missense 0.87 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781235 1q21.1 1 146079122A> C null D E 3077 3077 missense 0.893 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782040956 1q21.1 1 146079123T> C null D G 3077 3077 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781237 1q21.1 1 146079124C> G null D H 3077 3077 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781237 1q21.1 1 146079124C> T null D N 3077 3077 missense 0.932 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781233 1q21.1 1 146079118A> G null C R 3079 3079 missense 0.352 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781231 1q21.1 1 146079114T> C null Y C 3080 3080 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781231 1q21.1 1 146079114T> G null Y S 3080 3080 missense 0.887 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781227 1q21.1 1 146079108G> T null T N 3082 3082 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781228 1q21.1 1 146079109T> G null T P 3082 3082 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781228 1q21.1 1 146079109T> A null T S 3082 3082 missense 0.828 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782330678 1q21.1 1 146079103A> C null S A 3084 3084 missense 0.558 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782330678 1q21.1 1 146079103A> G null S P 3084 3084 missense 0.838 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781221 1q21.1 1 146079100C> A null G C 3085 3085 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781221 1q21.1 1 146079100C> T null G S 3085 3085 missense 0.986 probably damaging 0.79 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782622748 1q21.1 1 146079096C> G null C S 3086 3086 missense 0.073 benign 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782622748 1q21.1 1 146079096C> T null C Y 3086 3086 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587686646 1q21.1 1 146079094G> A null L F 3087 3087 7.99E-4 missense 0.943 probably damaging 0.73 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782802740 1q21.1 1 146079093A> G null L P 3087 3087 missense 0.975 probably damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587686646 1q21.1 1 146079094G> C null L V 3087 3087 7.99E-4 missense 0.87 possibly damaging 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587768370 1q21.1 1 146079091C> A null E * 3088 3088 0.001597 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781861976 1q21.1 1 146079089T> G null E D 3088 3088 missense 0.764 possibly damaging 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587768370 1q21.1 1 146079091C> T null E K 3088 3088 0.001597 missense 0.828 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587768370 1q21.1 1 146079091C> G null E Q 3088 3088 0.001597 missense 0.888 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781217 1q21.1 1 146079088G> T null L M 3089 3089 missense 0.981 probably damaging 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781215 1q21.1 1 146079087A> G null L P 3089 3089 missense 0.988 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781217 1q21.1 1 146079088G> C null L V 3089 3089 missense 0.937 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs4058802 1q21.1 1 146079084G> T null T N 3090 3090 0.1028 missense 0.277 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs3967942 1q21.1 1 146079085T> A null T S 3090 3090 0.1038 missense 0.022 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs4058802 1q21.1 1 146079084G> C null T S 3090 3090 0.1028 missense 0.022 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782585056 1q21.1 1 146079082C> T null D N 3091 3091 missense 0.346 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782585056 1q21.1 1 146079082C> A null D Y 3091 3091 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781206 1q21.1 1 146079078G> C null S * 3092 3092 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781209 1q21.1 1 146079079A> C null S A 3092 3092 missense 0.009 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782130322 1q21.1 1 146079074G> T null C * 3093 3093 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781983835 1q21.1 1 146079075C> A null C F 3093 3093 missense 0.003 benign 0.74 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781202 1q21.1 1 146079076A> C null C G 3093 3093 missense 0.0 benign 0.46 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782130322 1q21.1 1 146079074G> C null C W 3093 3093 missense 0.685 possibly damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781983835 1q21.1 1 146079075C> T null C Y 3093 3093 missense 0.086 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782402257 1q21.1 1 146079073G> C null Q E 3094 3094 missense 0.815 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782051607 1q21.1 1 146079071C> G null Q H 3094 3094 missense 0.351 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782029998 1q21.1 1 146079072T> A null Q L 3094 3094 missense 0.668 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782029998 1q21.1 1 146079072T> G null Q P 3094 3094 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782728176 1q21.1 1 146079070G> C null P A 3095 3095 missense 0.622 possibly damaging 0.42 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781194 1q21.1 1 146079069G> T null P H 3095 3095 missense 0.092 benign 0.49 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782728176 1q21.1 1 146079070G> T null P T 3095 3095 missense 0.715 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781190 1q21.1 1 146079066T> A null Y F 3096 3096 missense 0.878 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781892638 1q21.1 1 146079064T> C null R G 3097 3097 missense 0.006 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782575078 1q21.1 1 146079063C> A null R I 3097 3097 missense 0.278 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781814287 1q21.1 1 146079062T> G null R S 3097 3097 missense 0.001 benign 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781814287 1q21.1 1 146079062T> A null R S 3097 3097 missense 0.001 benign 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782575078 1q21.1 1 146079063C> G null R T 3097 3097 missense 0.054 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782468671 1q21.1 1 146079060C> A null S I 3098 3098 missense 0.444 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781185 1q21.1 1 146079059A> T null S R 3098 3098 missense 0.939 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782468671 1q21.1 1 146079060C> G null S T 3098 3098 missense 0.878 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782389943 1q21.1 1 146079057G> T null A D 3099 3099 missense 0.164 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782236023 1q21.1 1 146079058C> A null A S 3099 3099 missense 0.622 possibly damaging 0.56 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782389943 1q21.1 1 146079057G> A null A V 3099 3099 missense 0.043 benign 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782657909 1q21.1 1 146079053A> C null F L 3100 3100 missense 0.02 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781180 1q21.1 1 146079055A> C null F V 3100 3100 missense 0.001 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs189260810 1q21.1 1 146079050A> C null Y * 3101 3101 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782310911 1q21.1 1 146079051T> A null Y F 3101 3101 missense 0.641 possibly damaging 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782291266 1q21.1 1 146079052A> G null Y H 3101 3101 missense 0.099 benign 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782352041 1q21.1 1 146079048A> G null V A 3102 3102 missense 0.025 benign 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782352041 1q21.1 1 146079048A> T null V E 3102 3102 missense 0.086 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781936959 1q21.1 1 146079049C> T null V I 3102 3102 missense 0.005 benign 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781936959 1q21.1 1 146079049C> A null V L 3102 3102 missense 0.015 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782004658 1q21.1 1 146079044C> A null L F 3103 3103 missense 0.943 probably damaging 0.8 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781173 1q21.1 1 146079046A> T null L M 3103 3103 missense 0.959 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781171 1q21.1 1 146079045A> G null L S 3103 3103 missense 0.943 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781165 1q21.1 1 146079041C> A null E D 3104 3104 missense 0.764 possibly damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781167 1q21.1 1 146079043C> T null E K 3104 3104 missense 0.828 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782148242 1q21.1 1 146079040G> C null Q E 3105 3105 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781156 1q21.1 1 146079038T> A null Q H 3105 3105 missense 0.277 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782148242 1q21.1 1 146079040G> T null Q K 3105 3105 missense 0.015 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781157 1q21.1 1 146079039T> G null Q P 3105 3105 missense 0.099 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781155 1q21.1 1 146079037G> A null Q * 3106 3106 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782819247 1q21.1 1 146079035C> A null Q H 3106 3106 missense 0.763 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781154 1q21.1 1 146079036T> C null Q R 3106 3106 missense 0.465 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781924115 1q21.1 1 146079034G> T null H N 3107 3107 missense 0.033 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782075239 1q21.1 1 146079033T> C null H R 3107 3107 missense 0.0 benign 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781924115 1q21.1 1 146079034G> A null H Y 3107 3107 missense 0.0 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781148 1q21.1 1 146079030A> G null V A 3108 3108 missense 0.68 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781847769 1q21.1 1 146079031C> T null V I 3108 3108 missense 0.558 possibly damaging 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781144 1q21.1 1 146079027C> G null G A 3109 3109 missense 0.978 probably damaging 0.62 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781144 1q21.1 1 146079027C> T null G D 3109 3109 missense 0.994 probably damaging 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782519187 1q21.1 1 146079028C> T null G S 3109 3109 missense 0.986 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782199369 1q21.1 1 146079023C> A null L F 3110 3110 missense 0.943 probably damaging 0.42 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782199369 1q21.1 1 146079023C> G null L F 3110 3110 missense 0.943 probably damaging 0.42 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781883283 1q21.1 1 146079025A> T null L M 3110 3110 missense 0.959 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782563363 1q21.1 1 146079024A> C null L W 3110 3110 missense 0.987 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781135 1q21.1 1 146079021G> T null A D 3111 3111 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782614701 1q21.1 1 146079022C> G null A P 3111 3111 missense 0.959 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782614701 1q21.1 1 146079022C> T null A T 3111 3111 missense 0.916 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781135 1q21.1 1 146079021G> A null A V 3111 3111 missense 0.916 probably damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781133 1q21.1 1 146079018A> G null V A 3112 3112 missense 0.68 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782421556 1q21.1 1 146079019C> A null V F 3112 3112 missense 0.887 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781133 1q21.1 1 146079018A> C null V G 3112 3112 missense 0.838 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782421556 1q21.1 1 146079019C> T null V I 3112 3112 missense 0.558 possibly damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782421556 1q21.1 1 146079019C> G null V L 3112 3112 missense 0.558 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782333220 1q21.1 1 146079014G> T null D E 3113 3113 missense 0.893 possibly damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782333220 1q21.1 1 146079014G> C null D E 3113 3113 missense 0.893 possibly damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781131 1q21.1 1 146079016C> G null D H 3113 3113 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs868987743 1q21.1 1 146079011C> T null M I 3114 3114 missense 0.187 benign 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782108737 1q21.1 1 146079013T> G null M L 3114 3114 missense 0.084 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782108737 1q21.1 1 146079013T> C null M V 3114 3114 missense 0.187 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553781130 1q21.1 1 146079008A> T null D E 3115 3115 missense 0.893 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781996926 1q21.1 1 146079009T> C null D G 3115 3115 missense 0.932 probably damaging 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782771673 1q21.1 1 146079010C> G null D H 3115 3115 missense 0.986 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782771673 1q21.1 1 146079010C> T null D N 3115 3115 missense 0.932 probably damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781996926 1q21.1 1 146079009T> A null D V 3115 3115 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553781129 1q21.1 1 146079007C> T null E K 3116 3116 missense 0.828 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780911 1q21.1 1 146078278T> C null K R 3119 3119 missense 0.828 possibly damaging 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782024580 1q21.1 1 146078273G> T null Q K 3121 3121 missense 0.34 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780908 1q21.1 1 146078267C> A null V L 3123 3123 missense 0.568 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553780893 1q21.1 1 146078256G> C null D E 3126 3126 missense 0.897 possibly damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780894 1q21.1 1 146078257T> C null D G 3126 3126 missense 0.935 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780889 1q21.1 1 146078239G> T null P H 3132 3132 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780890 1q21.1 1 146078240G> A null P S 3132 3132 missense 0.81 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781869835 1q21.1 1 146077639C> A null R S 3133 3133 missense 0.412 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782168412 1q21.1 1 146077638G> A null L F 3134 3134 missense 0.773 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782706918 1q21.1 1 146077635T> C null S G 3135 3135 missense 0.302 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780707 1q21.1 1 146077634C> T null S N 3135 3135 missense 0.393 benign 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780705 1q21.1 1 146077633G> C null S R 3135 3135 missense 0.514 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780705 1q21.1 1 146077633G> T null S R 3135 3135 missense 0.514 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780703 1q21.1 1 146077629C> A null E * 3137 3137 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780702 1q21.1 1 146077626G> C null L V 3138 3138 missense 0.578 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780701 1q21.1 1 146077623G> C null L V 3139 3139 missense 0.578 possibly damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782487533 1q21.1 1 146077619T> G null D A 3140 3140 missense 0.737 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780697 1q21.1 1 146077618A> C null D E 3140 3140 missense 0.631 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780697 1q21.1 1 146077618A> T null D E 3140 3140 missense 0.631 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781810361 1q21.1 1 146077620C> G null D H 3140 3140 missense 0.937 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781810361 1q21.1 1 146077620C> T null D N 3140 3140 missense 0.737 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782487533 1q21.1 1 146077619T> A null D V 3140 3140 missense 0.908 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780694 1q21.1 1 146077616T> C null E G 3141 3141 missense 0.617 possibly damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782614491 1q21.1 1 146077614T> C null K E 3142 3142 missense 0.497 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780687 1q21.1 1 146077613T> A null K I 3142 3142 missense 0.85 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782526579 1q21.1 1 146077609C> G null E D 3143 3143 missense 0.398 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782526579 1q21.1 1 146077609C> A null E D 3143 3143 missense 0.398 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs368319396 1q21.1 1 146077610T> C null E G 3143 3143 missense 0.617 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781862858 1q21.1 1 146077611C> T null E K 3143 3143 missense 0.497 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780681 1q21.1 1 146077607G> T null P H 3144 3144 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782288931 1q21.1 1 146077608G> A null P S 3144 3144 missense 0.81 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782288931 1q21.1 1 146077608G> T null P T 3144 3144 missense 0.81 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780678 1q21.1 1 146077602C> T null V I 3146 3146 missense 0.205 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780676 1q21.1 1 146077593C> T null D N 3149 3149 missense 0.737 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780674 1q21.1 1 146077590A> G null S P 3150 3150 missense 0.514 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780674 1q21.1 1 146077590A> T null S T 3150 3150 missense 0.302 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs183933394 1q21.1 1 146077586A> T null L Q 3151 3151 missense 0.887 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782205786 1q21.1 1 146077583T> C null D G 3152 3152 missense 0.737 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780665 1q21.1 1 146077584C> G null D H 3152 3152 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780662 1q21.1 1 146077580C> A null R I 3153 3153 missense 0.516 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780659 1q21.1 1 146077577C> A null C F 3154 3154 missense 0.516 possibly damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780661 1q21.1 1 146077578A> T null C S 3154 3154 missense 0.3 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780659 1q21.1 1 146077577C> T null C Y 3154 3154 missense 0.598 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782424555 1q21.1 1 146077573A> T null Y * 3155 3155 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs781804779 1q21.1 1 146077573_146077574ins C null Y * 3155 3155 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782132658 1q21.1 1 146077574T> C null Y C 3155 3155 missense 0.883 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781983487 1q21.1 1 146077575A> C null Y D 3155 3155 missense 0.692 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781983487 1q21.1 1 146077575A> G null Y H 3155 3155 missense 0.617 possibly damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781983487 1q21.1 1 146077575A> T null Y N 3155 3155 missense 0.692 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs781921528 1q21.1 1 146077571G> T null S * 3156 3156 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780658 1q21.1 1 146077572A> G null S P 3156 3156 missense 0.514 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs781921528 1q21.1 1 146077571G> C null S W 3156 3156 missense 0.883 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs186721360 1q21.1 1 146077568G> A null T I 3157 3157 missense 0.711 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780653 1q21.1 1 146077566G> C null P A 3158 3158 missense 0.737 possibly damaging 0.7 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780652 1q21.1 1 146077565G> A null P L 3158 3158 missense 0.856 possibly damaging 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553780650 1q21.1 1 146077562G> A null S L 3159 3159 missense 0.514 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559316068 1q21.1 1 146077559C> G null G A 3160 3160 missense 0.902 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782801710 1q21.1 1 146077560C> A null G C 3160 3160 missense 0.985 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782801710 1q21.1 1 146077560C> G null G R 3160 3160 missense 0.98 probably damaging 0.65 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782801710 1q21.1 1 146077560C> T null G S 3160 3160 missense 0.934 probably damaging 0.9 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs181614672 1q21.1 1 146077556T> C null Y C 3161 3161 missense 0.883 possibly damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781802090 1q21.1 1 146077557A> C null Y D 3161 3161 missense 0.692 possibly damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781802090 1q21.1 1 146077557A> T null Y N 3161 3161 missense 0.692 possibly damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs181614672 1q21.1 1 146077556T> G null Y S 3161 3161 missense 0.617 possibly damaging 0.42 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782239042 1q21.1 1 146077554G> A null L F 3162 3162 missense 0.773 possibly damaging 0.73 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780643 1q21.1 1 146077553A> C null L R 3162 3162 missense 0.887 possibly damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782239042 1q21.1 1 146077554G> C null L V 3162 3162 missense 0.578 possibly damaging 0.53 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780641 1q21.1 1 146077547A> T null L Q 3164 3164 missense 0.887 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs77691247 1q21.1 1 146077544G> C null P R 3165 3165 0.04692 missense 0.908 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs79357135 1q21.1 1 146077545G> A null P S 3165 3165 missense 0.81 possibly damaging 0.87 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs79357135 1q21.1 1 146077545G> T null P T 3165 3165 missense 0.81 possibly damaging 0.81 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780639 1q21.1 1 146077542C> T null D N 3166 3166 missense 0.737 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs199889014 1q21.1 1 146077509A> C null S A 3177 3177 missense 0.205 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs199889014 1q21.1 1 146077509A> T null S T 3177 3177 missense 0.302 benign 0.62 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs61813402 1q21.1 1 146077494A> G null Y H 3182 3182 missense 0.892 possibly damaging 0.96 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs199530710 1q21.1 1 146077485A> T null L M 3185 3185 missense 0.96 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs199501958 1q21.1 1 146077482C> G null A P 3186 3186 missense 0.96 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1486114171 1q21.1 1 146076743C> G null E Q 3196 3196 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1202450741 1q21.1 1 146076721T> C null D G 3203 3203 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1433815653 1q21.1 1 146076018A> G null V A 3216 3216 missense 0.689 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1282191850 1q21.1 1 146076015A> G null V A 3217 3217 missense 0.689 possibly damaging 0.64 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1350743560 1q21.1 1 146075934T> A null Q L 3244 3244 missense 0.475 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1245249053 1q21.1 1 146075097C> G null R T 3285 3285 missense 0.781 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1484150421 1q21.1 1 146075065G> C null Q E 3296 3296 missense 0.092 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1250219231 1q21.1 1 146075055G> C null P R 3299 3299 missense 0.908 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1443314346 1q21.1 1 146075051G> T null C * 3300 3300 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1190065982 1q21.1 1 146075046C> A null R M 3302 3302 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1431746465 1q21.1 1 146074434C> G null R S 3305 3305 missense 0.774 possibly damaging 0.56 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1479626323 1q21.1 1 146074422A> T null D E 3309 3309 missense 0.893 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1342971736 1q21.1 1 146074397C> A null D Y 3318 3318 missense 0.986 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1429456799 1q21.1 1 146074393G> A null S L 3319 3319 missense 0.838 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1275029217 1q21.1 1 146074391G> C null L V 3320 3320 missense 0.87 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1553780516 1q21.1 1 146074378T> G null Y S 3324 3324 missense 0.887 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs202029220 1q21.1 1 146074372G> A null T I 3326 3326 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1221391735 1q21.1 1 146074367A> C null S A 3328 3328 missense 0.558 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1282473378 1q21.1 1 146074360T> C null Y C 3330 3330 missense 0.001 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1553780513 1q21.1 1 146074349T> G null T P 3334 3334 missense 0.926 probably damaging 0.42 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1553780513 1q21.1 1 146074349T> A null T S 3334 3334 missense 0.834 possibly damaging 0.76 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780508 1q21.1 1 146074342G> A null S L 3336 3336 missense 0.838 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781959993 1q21.1 1 146074339C> A null C F 3337 3337 missense 0.839 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1282102518 1q21.1 1 146074340A> C null C G 3337 3337 missense 0.774 possibly damaging 0.55 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1282102518 1q21.1 1 146074340A> G null C R 3337 3337 missense 0.879 possibly damaging 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781959993 1q21.1 1 146074339C> G null C S 3337 3337 missense 0.677 possibly damaging 0.77 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780504 1q21.1 1 146074338G> C null C W 3337 3337 missense 0.961 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1271231911 1q21.1 1 146074335C> G null Q H 3338 3338 missense 0.763 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1222417587 1q21.1 1 146074336T> G null Q P 3338 3338 missense 0.679 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782237880 1q21.1 1 146074333G> T null P H 3339 3339 missense 0.99 probably damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1479616427 1q21.1 1 146074334G> A null P S 3339 3339 missense 0.954 probably damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1479616427 1q21.1 1 146074334G> T null P T 3339 3339 missense 0.954 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780499 1q21.1 1 146074328T> C null R G 3341 3341 missense 0.677 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1199128567 1q21.1 1 146074321G> C null A G 3343 3343 missense 0.87 possibly damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1553780498 1q21.1 1 146074322C> T null A T 3343 3343 missense 0.916 probably damaging 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1199128567 1q21.1 1 146074321G> A null A V 3343 3343 missense 0.916 probably damaging 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs1157304883 1q21.1 1 146074313C> T null V I 3346 3346 missense 0.007 benign 0.51 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs1157304883 1q21.1 1 146074313C> A null V L 3346 3346 missense 0.023 benign 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1407925742 1q21.1 1 146074307C> G null E Q 3348 3348 missense 0.888 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1399557958 1q21.1 1 146074304G> C null Q E 3349 3349 missense 0.34 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1399557958 1q21.1 1 146074304G> T null Q K 3349 3349 missense 0.34 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780488 1q21.1 1 146074303T> G null Q P 3349 3349 missense 0.679 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780486 1q21.1 1 146074301G> C null Q E 3350 3350 missense 0.34 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782151436 1q21.1 1 146074297T> A null H L 3351 3351 missense 0.011 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782151436 1q21.1 1 146074297T> C null H R 3351 3351 missense 0.0 benign 0.92 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs1553780485 1q21.1 1 146074298G> A null H Y 3351 3351 missense 0.066 benign 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1302267516 1q21.1 1 146074295C> A null V F 3352 3352 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1302267516 1q21.1 1 146074295C> G null V L 3352 3352 missense 0.558 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780481 1q21.1 1 146074291C> G null G A 3353 3353 missense 0.978 probably damaging 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1350839774 1q21.1 1 146074292C> T null G S 3353 3353 missense 0.986 probably damaging 0.93 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780473 1q21.1 1 146074287C> G null L F 3354 3354 missense 0.003 benign 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs1553780478 1q21.1 1 146074289A> T null L M 3354 3354 missense 0.469 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780474 1q21.1 1 146074288A> C null L W 3354 3354 missense 0.726 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780470 1q21.1 1 146074286C> T null A T 3355 3355 missense 0.115 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781913979 1q21.1 1 146074283C> T null V I 3356 3356 missense 0.025 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781913979 1q21.1 1 146074283C> G null V L 3356 3356 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1240940729 1q21.1 1 146074279T> C null D G 3357 3357 missense 0.932 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1277639560 1q21.1 1 146074275C> A null M I 3358 3358 missense 0.003 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559315292 1q21.1 1 146074276A> G null M T 3358 3358 missense 0.01 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780465 1q21.1 1 146074274C> G null D H 3359 3359 missense 0.634 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780192 1q21.1 1 146073549T> C null I V 3361 3361 missense 0.271 benign 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1359430945 1q21.1 1 146073542T> C null K R 3363 3363 missense 0.828 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs201261741 1q21.1 1 146073537G> T null Q K 3365 3365 missense 0.0 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780183 1q21.1 1 146073531C> T null V M 3367 3367 missense 0.563 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780182 1q21.1 1 146073528C> T null E K 3368 3368 missense 0.828 possibly damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780178 1q21.1 1 146073513G> T null P T 3373 3373 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780175 1q21.1 1 146073504G> A null P S 3376 3376 missense 0.954 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780019 1q21.1 1 146072901C> A null R S 3377 3377 missense 0.774 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782219485 1q21.1 1 146072899A> T null L H 3378 3378 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782219485 1q21.1 1 146072899A> G null L P 3378 3378 missense 0.975 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782219485 1q21.1 1 146072899A> C null L R 3378 3378 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780017 1q21.1 1 146072900G> C null L V 3378 3378 missense 0.87 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782640437 1q21.1 1 146072897T> C null S G 3379 3379 missense 0.68 possibly damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780011 1q21.1 1 146072896C> A null S I 3379 3379 missense 0.887 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780011 1q21.1 1 146072896C> T null S N 3379 3379 missense 0.76 possibly damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782270780 1q21.1 1 146072895G> T null S R 3379 3379 missense 0.838 possibly damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780010 1q21.1 1 146072893C> A null R M 3380 3380 missense 0.923 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780009 1q21.1 1 146072892C> A null R S 3380 3380 missense 0.774 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782409290 1q21.1 1 146072894T> A null R W 3380 3380 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782040947 1q21.1 1 146072890T> G null E A 3381 3381 missense 0.828 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780007 1q21.1 1 146072889C> A null E D 3381 3381 missense 0.764 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782040947 1q21.1 1 146072890T> A null E V 3381 3381 missense 0.888 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780006 1q21.1 1 146072888G> C null L V 3382 3382 missense 0.87 possibly damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781945505 1q21.1 1 146072880A> T null D E 3384 3384 missense 0.107 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781945505 1q21.1 1 146072880A> C null D E 3384 3384 missense 0.107 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553780001 1q21.1 1 146072877C> G null E D 3385 3385 missense 0.764 possibly damaging 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782096207 1q21.1 1 146072879C> G null E Q 3385 3385 missense 0.888 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782761606 1q21.1 1 146072874T> G null K N 3386 3386 missense 0.888 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781996274 1q21.1 1 146072871C> A null E D 3387 3387 missense 0.764 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1422812207 1q21.1 1 146072872T> C null E G 3387 3387 missense 0.888 possibly damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1422812207 1q21.1 1 146072872T> A null E V 3387 3387 missense 0.888 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782145171 1q21.1 1 146072869G> T null P H 3388 3388 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779992 1q21.1 1 146072865T> A null E D 3389 3389 missense 0.764 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779994 1q21.1 1 146072867C> T null E K 3389 3389 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782801156 1q21.1 1 146072859C> G null L F 3391 3391 missense 0.943 probably damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779981 1q21.1 1 146072845T> C null D G 3396 3396 missense 0.932 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782750167 1q21.1 1 146072839C> A null C F 3398 3398 missense 0.839 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782750167 1q21.1 1 146072839C> T null C Y 3398 3398 missense 0.879 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779978 1q21.1 1 146072837A> G null Y H 3399 3399 missense 0.887 possibly damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781857763 1q21.1 1 146072833G> A null S L 3400 3400 missense 0.846 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782527089 1q21.1 1 146072830G> A null T I 3401 3401 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779969 1q21.1 1 146072828G> A null P S 3402 3402 missense 0.954 probably damaging 0.75 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779969 1q21.1 1 146072828G> T null P T 3402 3402 missense 0.954 probably damaging 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779967 1q21.1 1 146072822C> T null G S 3404 3404 missense 0.986 probably damaging 0.89 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779966 1q21.1 1 146072816G> C null L V 3406 3406 missense 0.87 possibly damaging 0.53 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779963 1q21.1 1 146072813C> G null E Q 3407 3407 missense 0.888 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553779960 1q21.1 1 146072806G> A null P L 3409 3409 missense 0.967 probably damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779961 1q21.1 1 146072807G> A null P S 3409 3409 missense 0.954 probably damaging 0.85 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779959 1q21.1 1 146072799T> A null L F 3411 3411 missense 0.943 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779956 1q21.1 1 146072784G> T null S R 3416 3416 missense 0.886 possibly damaging 0.67 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779954 1q21.1 1 146072774A> G null Y H 3420 3420 missense 0.994 probably damaging 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1470292328 1q21.1 1 146072753G> T null L I 3427 3427 missense 0.904 possibly damaging 0.46 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779881 1q21.1 1 146072018T> G null R S 3435 3435 missense 0.443 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553779880 1q21.1 1 146072007T> C null D G 3439 3439 missense 0.92 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs200847414 1q21.1 1 146072005G> C null Q E 3440 3440 missense 0.535 possibly damaging 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs201354347 1q21.1 1 146071983C> T null G D 3447 3447 missense 0.461 possibly damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1448428710 1q21.1 1 146071974C> A null C F 3450 3450 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1191206565 1q21.1 1 146071971G> C null P R 3451 3451 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779875 1q21.1 1 146071972G> A null P S 3451 3451 missense 0.198 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782443526 1q21.1 1 146071303G> C null L V 3458 3458 missense 0.937 probably damaging 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782570448 1q21.1 1 146071296A> G null V A 3460 3460 missense 0.067 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779696 1q21.1 1 146071293A> G null V A 3461 3461 missense 0.825 possibly damaging 0.64 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779693 1q21.1 1 146071273C> T null D N 3468 3468 missense 0.968 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779692 1q21.1 1 146071214G> C null C W 3487 3487 missense 0.982 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779691 1q21.1 1 146071212T> A null Q L 3488 3488 missense 0.046 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779690 1q21.1 1 146071210G> C null P A 3489 3489 missense 0.968 probably damaging 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779686 1q21.1 1 146071206T> C null Y C 3490 3490 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779682 1q21.1 1 146071204C> T null G R 3491 3491 missense 0.998 probably damaging 0.74 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779679 1q21.1 1 146071193A> C null F L 3494 3494 missense 0.825 possibly damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779678 1q21.1 1 146071188G> A null A V 3496 3496 missense 0.943 probably damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779675 1q21.1 1 146071180C> T null E K 3499 3499 missense 0.879 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779671 1q21.1 1 146071153C> T null V M 3508 3508 missense 0.967 probably damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779652 1q21.1 1 146070413C> G null K N 3516 3516 missense 0.946 probably damaging 0.12 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779650 1q21.1 1 146070391T> A null R * 3524 3524 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779649 1q21.1 1 146070359T> G null K N 3534 3534 missense 0.946 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779644 1q21.1 1 146070336G> A null P L 3542 3542 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1437829891 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146070333G> C null P R 3543 3543 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779488 1q21.1 1 146069714G> A null L F 3547 3547 missense 0.943 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782766380 1q21.1 1 146069713A> G null L P 3547 3547 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782551230 1q21.1 1 146069711T> A null S C 3548 3548 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782551230 1q21.1 1 146069711T> C null S G 3548 3548 missense 0.68 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779486 1q21.1 1 146069710C> A null S I 3548 3548 missense 0.887 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779486 1q21.1 1 146069710C> T null S N 3548 3548 missense 0.76 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779485 1q21.1 1 146069709G> C null S R 3548 3548 missense 0.838 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782699853 1q21.1 1 146069708T> C null R G 3549 3549 missense 0.677 possibly damaging 0.48 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781827434 1q21.1 1 146069707C> A null R M 3549 3549 missense 0.923 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782489151 1q21.1 1 146069706C> A null R S 3549 3549 missense 0.774 possibly damaging 0.77 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781827434 1q21.1 1 146069707C> G null R T 3549 3549 missense 0.774 possibly damaging 0.64 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782699853 1q21.1 1 146069708T> A null R W 3549 3549 missense 0.961 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782261247 1q21.1 1 146069703C> A null E D 3550 3550 missense 0.764 possibly damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779482 1q21.1 1 146069705C> G null E Q 3550 3550 missense 0.888 possibly damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782646939 1q21.1 1 146069704T> A null E V 3550 3550 missense 0.888 possibly damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782550452 1q21.1 1 146069702G> T null L M 3551 3551 missense 0.959 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782550452 1q21.1 1 146069702G> C null L V 3551 3551 missense 0.87 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782191239 1q21.1 1 146069699G> C null L V 3552 3552 missense 0.87 possibly damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781948058 1q21.1 1 146069694A> T null D E 3553 3553 missense 0.893 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1432602954 1q21.1 1 146069695T> C null D G 3553 3553 missense 0.932 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782337872 1q21.1 1 146069696C> T null D N 3553 3553 missense 0.932 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781998988 1q21.1 1 146069691C> A null E D 3554 3554 missense 0.764 possibly damaging 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782364158 1q21.1 1 146069692T> C null E G 3554 3554 missense 0.888 possibly damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782225788 1q21.1 1 146069693C> T null E K 3554 3554 missense 0.828 possibly damaging 0.48 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779475 1q21.1 1 146069690T> C null K E 3555 3555 missense 0.828 possibly damaging 0.81 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779474 1q21.1 1 146069689T> A null K I 3555 3555 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782140340 1q21.1 1 146069688T> A null K N 3555 3555 missense 0.888 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs61813408 1q21.1 1 146069686C> T null G E 3556 3556 0.242 missense 0.006 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs61813408 1q21.1 1 146069686C> A null G V 3556 3556 0.242 missense 0.55 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781860308 1q21.1 1 146069684G> C null P A 3557 3557 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782790653 1q21.1 1 146069683G> A null P L 3557 3557 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782790653 1q21.1 1 146069683G> C null P R 3557 3557 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781860308 1q21.1 1 146069684G> A null P S 3557 3557 missense 0.954 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781860308 1q21.1 1 146069684G> T null P T 3557 3557 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782437349 1q21.1 1 146069679T> G null E D 3558 3558 missense 0.764 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782437349 1q21.1 1 146069679T> A null E D 3558 3558 missense 0.764 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1158302931 1q21.1 1 146069681C> T null E K 3558 3558 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782208955 1q21.1 1 146069673C> G null L F 3560 3560 missense 0.943 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782208955 1q21.1 1 146069673C> A null L F 3560 3560 missense 0.943 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782482152 1q21.1 1 146069672G> A null Q * 3561 3561 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587654089 1q21.1 1 146069670C> A null Q H 3561 3561 0.02796 missense 0.763 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782413658 1q21.1 1 146069669C> T null D N 3562 3562 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587711172 1q21.1 1 146069668T> A null D V 3562 3562 2.0E-4 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782413658 1q21.1 1 146069669C> A null D Y 3562 3562 missense 0.986 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782175402 1q21.1 1 146069665G> C null S * 3563 3563 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779461 1q21.1 1 146069666A> G null S P 3563 3563 missense 0.838 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587776323 1q21.1 1 146069662A> G null L P 3564 3564 2.0E-4 missense 0.975 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587776323 1q21.1 1 146069662A> T null L Q 3564 3564 2.0E-4 missense 0.975 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,NCI-TCGA,gnomAD rs782321963 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146069663G> C null L V 3564 3564 missense 0.87 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782171651 1q21.1 1 146069658A> C null D E 3565 3565 missense 0.893 possibly damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782171651 1q21.1 1 146069658A> T null D E 3565 3565 missense 0.893 possibly damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587666363 1q21.1 1 146069659T> C null D G 3565 3565 2.0E-4 missense 0.932 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782782257 1q21.1 1 146069660C> T null D N 3565 3565 missense 0.932 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587682053 1q21.1 1 146069657T> A null R * 3566 3566 3.99E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779441 1q21.1 1 146069656C> T null R K 3566 3566 missense 0.455 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,NCI-TCGA,gnomAD rs587756953 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146069655T> A null R S 3566 3566 2.0E-4 missense 0.774 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1322042690 1q21.1 1 146069654A> C null C G 3567 3567 missense 0.024 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1322042690 1q21.1 1 146069654A> G null C R 3567 3567 missense 0.107 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782731287 1q21.1 1 146069653C> T null C Y 3567 3567 missense 0.362 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781900554 1q21.1 1 146069649A> T null Y * 3568 3568 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587638297 1q21.1 1 146069650T> C null Y C 3568 3568 0.002796 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587638297 1q21.1 1 146069650T> A null Y F 3568 3568 0.002796 missense 0.68 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1246728460 1q21.1 1 146069651A> G null Y H 3568 3568 missense 0.887 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587638297 1q21.1 1 146069650T> G null Y S 3568 3568 0.002796 missense 0.887 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782430763 1q21.1 1 146069647G> C null S * 3569 3569 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782207758 1q21.1 1 146069645T> C null T A 3570 3570 missense 0.764 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 NCI-TCGA rs782652997 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146069644G> A null T I 3570 3570 missense 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782652997 1q21.1 1 146069644G> T null T N 3570 3570 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782207758 1q21.1 1 146069645T> A null T S 3570 3570 missense 0.828 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782652997 1q21.1 1 146069644G> C null T S 3570 3570 missense 0.828 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1456517299 1q21.1 1 146069641G> A null P L 3571 3571 missense 0.967 probably damaging 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1456517299 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146069641G> C null P R 3571 3571 missense 0.98 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782415314 1q21.1 1 146069642G> A null P S 3571 3571 missense 0.954 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782059720 1q21.1 1 146069639A> C null S A 3572 3572 missense 0.558 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782059720 1q21.1 1 146069639A> G null S P 3572 3572 missense 0.838 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782784981 1q21.1 1 146069636C> A null G C 3573 3573 missense 0.997 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587713688 1q21.1 1 146069635C> T null G D 3573 3573 2.0E-4 missense 0.994 probably damaging 0.62 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782784981 1q21.1 1 146069636C> G null G R 3573 3573 missense 0.996 probably damaging 0.53 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782784981 1q21.1 1 146069636C> T null G S 3573 3573 missense 0.986 probably damaging 0.75 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587713688 1q21.1 1 146069635C> A null G V 3573 3573 2.0E-4 missense 0.996 probably damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587652859 1q21.1 1 146069632C> A null C F 3574 3574 2.0E-4 missense 0.839 possibly damaging 0.59 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587599645 1q21.1 1 146069633A> C null C G 3574 3574 0.003794 missense 0.774 possibly damaging 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587652859 1q21.1 1 146069632C> G null C S 3574 3574 2.0E-4 missense 0.677 possibly damaging 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587652859 1q21.1 1 146069632C> T null C Y 3574 3574 2.0E-4 missense 0.879 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782526088 1q21.1 1 146069629A> G null L P 3575 3575 missense 0.975 probably damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs4126496 1q21.1 1 146069630G> C null L V 3575 3575 0.2432 missense 0.87 possibly damaging 0.51 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782681149 1q21.1 1 146069627C> A null E * 3576 3576 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779419 1q21.1 1 146069626T> G null E A 3576 3576 missense 0.828 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782321135 1q21.1 1 146069625T> A null E D 3576 3576 missense 0.764 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782321135 1q21.1 1 146069625T> G null E D 3576 3576 missense 0.764 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782681149 1q21.1 1 146069627C> G null E Q 3576 3576 missense 0.888 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779419 1q21.1 1 146069626T> A null E V 3576 3576 missense 0.888 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779416 1q21.1 1 146069623A> T null L Q 3577 3577 missense 0.005 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779416 1q21.1 1 146069623A> C null L R 3577 3577 missense 0.086 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782217697 1q21.1 1 146069624G> C null L V 3577 3577 missense 0.107 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779413 1q21.1 1 146069621A> T null C S 3578 3578 missense 0.007 benign 0.69 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779411 1q21.1 1 146069620C> G null C S 3578 3578 missense 0.007 benign 0.69 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779411 1q21.1 1 146069620C> T null C Y 3578 3578 missense 0.125 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587609631 1q21.1 1 146069618C> G null D H 3579 3579 2.0E-4 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587609631 1q21.1 1 146069618C> T null D N 3579 3579 2.0E-4 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587609631 1q21.1 1 146069618C> A null D Y 3579 3579 2.0E-4 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782006076 1q21.1 1 146069614G> A null S L 3580 3580 missense 0.838 possibly damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782149601 1q21.1 1 146069611C> A null C F 3581 3581 missense 0.839 possibly damaging 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779410 1q21.1 1 146069612A> G null C R 3581 3581 missense 0.879 possibly damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,NCI-TCGA,TOPMed,gnomAD rs782428211 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146069610G> C null C W 3581 3581 missense 0.961 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782149601 1q21.1 1 146069611C> T null C Y 3581 3581 missense 0.879 possibly damaging 0.59 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1196401740 1q21.1 1 146069609G> A null Q * 3582 3582 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1196401740 1q21.1 1 146069609G> C null Q E 3582 3582 missense 0.34 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782070318 1q21.1 1 146069607C> G null Q H 3582 3582 missense 0.763 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781923586 1q21.1 1 146069608T> A null Q L 3582 3582 missense 0.465 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781923586 1q21.1 1 146069608T> C null Q R 3582 3582 missense 0.465 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782730095 1q21.1 1 146069606G> C null P A 3583 3583 missense 0.932 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782730095 1q21.1 1 146069606G> A null P S 3583 3583 missense 0.954 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782730095 1q21.1 1 146069606G> T null P T 3583 3583 missense 0.954 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782712517 1q21.1 1 146069601G> C null Y * 3584 3584 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781899801 1q21.1 1 146069602T> C null Y C 3584 3584 missense 0.974 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781899801 1q21.1 1 146069602T> A null Y F 3584 3584 missense 0.68 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782806926 1q21.1 1 146069603A> G null Y H 3584 3584 missense 0.887 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1300734364 1q21.1 1 146069600T> C null R G 3585 3585 missense 0.0 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587659422 1q21.1 1 146069599C> A null R I 3585 3585 2.0E-4 missense 0.362 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587659422 1q21.1 1 146069599C> T null R K 3585 3585 2.0E-4 missense 0.046 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782628645 1q21.1 1 146069598T> A null R S 3585 3585 missense 0.055 benign 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782628645 1q21.1 1 146069598T> G null R S 3585 3585 missense 0.055 benign 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587659422 1q21.1 1 146069599C> G null R T 3585 3585 2.0E-4 missense 0.099 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782265122 1q21.1 1 146069596C> A null S I 3586 3586 missense 0.887 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779395 1q21.1 1 146069597T> G null S R 3586 3586 missense 0.838 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782265122 1q21.1 1 146069596C> G null S T 3586 3586 missense 0.68 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1338411837 1q21.1 1 146069593G> T null A D 3587 3587 missense 0.219 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587745385 1q21.1 1 146069594C> T null A T 3587 3587 2.0E-4 missense 0.115 benign 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1279471644 1q21.1 1 146069591A> G null F L 3588 3588 missense 0.68 possibly damaging 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559311926 1q21.1 1 146069588A> C null Y D 3589 3589 missense 0.917 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782694670 1q21.1 1 146069585C> T null V I 3590 3590 missense 0.005 benign 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782694670 1q21.1 1 146069585C> A null V L 3590 3590 missense 0.015 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587599118 1q21.1 1 146069580C> A null L F 3591 3591 2.0E-4 missense 0.943 probably damaging 0.54 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1196382003 1q21.1 1 146069581A> G null L S 3591 3591 missense 0.943 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782331956 1q21.1 1 146069579C> A null E * 3592 3592 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782233658 1q21.1 1 146069577C> A null E D 3592 3592 missense 0.764 possibly damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782331956 1q21.1 1 146069579C> T null E K 3592 3592 missense 0.828 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1192312768 1q21.1 1 146069576G> A null Q * 3593 3593 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1192312768 1q21.1 1 146069576G> C null Q E 3593 3593 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782392300 1q21.1 1 146069574T> A null Q H 3593 3593 missense 0.277 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1192312768 1q21.1 1 146069576G> T null Q K 3593 3593 missense 0.015 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1425194010 1q21.1 1 146069575T> A null Q L 3593 3593 missense 0.073 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1425194010 1q21.1 1 146069575T> G null Q P 3593 3593 missense 0.099 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587678061 1q21.1 1 146069571C> A null Q H 3594 3594 2.0E-4 missense 0.362 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779381 1q21.1 1 146069573G> T null Q K 3594 3594 missense 0.0 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782012695 1q21.1 1 146069572T> A null Q L 3594 3594 missense 0.073 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781936112 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146069570G> A null R C 3595 3595 missense 0.0 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs374175846 1q21.1 1 146069569C> T null R H 3595 3595 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs374175846 1q21.1 1 146069569C> A null R L 3595 3595 missense 0.041 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1358513128 1q21.1 1 146069567C> A null V F 3596 3596 missense 0.887 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779373 1q21.1 1 146069566A> C null V G 3596 3596 missense 0.838 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1358513128 1q21.1 1 146069567C> T null V I 3596 3596 missense 0.558 possibly damaging 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587758040 1q21.1 1 146069563C> G null G A 3597 3597 2.0E-4 missense 0.978 probably damaging 0.44 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782079178 1q21.1 1 146069564C> A null G C 3597 3597 missense 0.997 probably damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587758040 1q21.1 1 146069563C> T null G D 3597 3597 2.0E-4 missense 0.994 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782079178 1q21.1 1 146069564C> G null G R 3597 3597 missense 0.996 probably damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782079178 1q21.1 1 146069564C> T null G S 3597 3597 missense 0.986 probably damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587758040 1q21.1 1 146069563C> A null G V 3597 3597 2.0E-4 missense 0.996 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782813410 1q21.1 1 146069560A> T null L * 3598 3598 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782455789 1q21.1 1 146069559C> G null L F 3598 3598 missense 0.003 benign 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1354764942 1q21.1 1 146069561A> T null L M 3598 3598 missense 0.469 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782813410 1q21.1 1 146069560A> C null L W 3598 3598 missense 0.726 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782490489 1q21.1 1 146069557G> C null A G 3599 3599 missense 0.115 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782213008 1q21.1 1 146069558C> G null A P 3599 3599 missense 0.426 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782213008 1q21.1 1 146069558C> T null A T 3599 3599 missense 0.115 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782490489 1q21.1 1 146069557G> A null A V 3599 3599 missense 0.201 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782281248 1q21.1 1 146069555C> A null V F 3600 3600 missense 0.116 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782281248 1q21.1 1 146069555C> T null V I 3600 3600 missense 0.025 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782281248 1q21.1 1 146069555C> G null V L 3600 3600 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782337099 1q21.1 1 146069550G> C null D E 3601 3601 missense 0.893 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553779358 1q21.1 1 146069551T> C null D G 3601 3601 missense 0.932 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781916800 1q21.1 1 146069552C> G null D H 3601 3601 missense 0.986 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781916800 1q21.1 1 146069552C> T null D N 3601 3601 missense 0.932 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781916800 1q21.1 1 146069552C> A null D Y 3601 3601 missense 0.986 probably damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782383917 1q21.1 1 146069547C> G null M I 3602 3602 missense 0.003 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587654247 1q21.1 1 146069549T> G null M L 3602 3602 5.99E-4 missense 0.001 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587654247 1q21.1 1 146069549T> C null M V 3602 3602 5.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782171896 1q21.1 1 146069545T> C null D G 3603 3603 missense 0.0 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782171896 1q21.1 1 146069545T> A null D V 3603 3603 missense 0.26 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587713216 1q21.1 1 146069546C> A null D Y 3603 3603 3.99E-4 missense 0.563 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778979 1q21.1 1 146068817T> C null E G 3606 3606 missense 0.888 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778976 1q21.1 1 146068813C> G null K N 3607 3607 missense 0.888 possibly damaging 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1229045870 1q21.1 1 146068814T> C null K R 3607 3607 missense 0.828 possibly damaging 0.46 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781902503 1q21.1 1 146068809G> C null Q E 3609 3609 missense 0.01 benign 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781902503 1q21.1 1 146068809G> T null Q K 3609 3609 missense 0.0 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778971 1q21.1 1 146068806C> G null E Q 3610 3610 missense 0.888 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1338388476 1q21.1 1 146068802A> C null V G 3611 3611 missense 0.0 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1268036197 1q21.1 1 146068803C> A null V L 3611 3611 missense 0.092 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1234718336 1q21.1 1 146068797C> T null E K 3613 3613 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778966 1q21.1 1 146068794C> A null D Y 3614 3614 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778965 1q21.1 1 146068791G> C null Q E 3615 3615 missense 0.34 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778964 1q21.1 1 146068789T> G null Q H 3615 3615 missense 0.763 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778956 1q21.1 1 146068787T> A null D V 3616 3616 missense 0.349 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778958 1q21.1 1 146068788C> A null D Y 3616 3616 missense 0.663 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778953 1q21.1 1 146068784G> A null P L 3617 3617 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1232640469 1q21.1 1 146068175C> G null R S 3621 3621 missense 0.774 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1261926340 1q21.1 1 146068171T> A null S C 3623 3623 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1261926340 1q21.1 1 146068171T> C null S G 3623 3623 missense 0.68 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778650 1q21.1 1 146068170C> A null S I 3623 3623 missense 0.887 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1463161812 1q21.1 1 146068169G> T null S R 3623 3623 missense 0.838 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1463161812 1q21.1 1 146068169G> C null S R 3623 3623 missense 0.838 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781861313 1q21.1 1 146068166C> A null R S 3624 3624 missense 0.774 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1187476465 1q21.1 1 146068168T> A null R W 3624 3624 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778643 1q21.1 1 146068163C> A null E D 3625 3625 missense 0.764 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778642 1q21.1 1 146068162G> C null L V 3626 3626 missense 0.87 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1455398985 1q21.1 1 146068158A> T null L Q 3627 3627 missense 0.975 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs368600730 1q21.1 1 146068155T> G null D A 3628 3628 0.001797 missense 0.0 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778623 1q21.1 1 146068154A> C null D E 3628 3628 missense 0.107 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782538422 1q21.1 1 146068156C> G null D H 3628 3628 missense 0.563 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782538422 1q21.1 1 146068156C> T null D N 3628 3628 missense 0.201 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs368600730 1q21.1 1 146068155T> A null D V 3628 3628 0.001797 missense 0.058 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782538422 1q21.1 1 146068156C> A null D Y 3628 3628 missense 0.563 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778614 1q21.1 1 146068152T> G null E A 3629 3629 missense 0.828 possibly damaging 0.58 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778614 1q21.1 1 146068152T> C null E G 3629 3629 missense 0.888 possibly damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778621 1q21.1 1 146068153C> T null E K 3629 3629 missense 0.828 possibly damaging 0.65 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778621 1q21.1 1 146068153C> G null E Q 3629 3629 missense 0.888 possibly damaging 0.41 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778614 1q21.1 1 146068152T> A null E V 3629 3629 missense 0.888 possibly damaging 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1401178340 1q21.1 1 146068150T> C null K E 3630 3630 missense 0.828 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778612 1q21.1 1 146068149T> A null K I 3630 3630 missense 0.965 probably damaging 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782189647 1q21.1 1 146068148T> A null K N 3630 3630 missense 0.888 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782189647 1q21.1 1 146068148T> G null K N 3630 3630 missense 0.888 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778612 1q21.1 1 146068149T> C null K R 3630 3630 missense 0.828 possibly damaging 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778605 1q21.1 1 146068147C> A null E * 3631 3631 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs12027055 1q21.1 1 146068145C> A null E D 3631 3631 missense 0.0 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1456834578 1q21.1 1 146068146T> C null E G 3631 3631 missense 0.0 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1456834578 1q21.1 1 146068146T> A null E V 3631 3631 missense 0.201 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778599 1q21.1 1 146068144G> C null P A 3632 3632 missense 0.932 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1439129967 1q21.1 1 146068139T> A null E D 3633 3633 missense 0.764 possibly damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1326821211 1q21.1 1 146068141C> T null E K 3633 3633 missense 0.828 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1326821211 1q21.1 1 146068141C> G null E Q 3633 3633 missense 0.888 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778595 1q21.1 1 146068137A> T null V D 3634 3634 missense 0.917 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs879960662 1q21.1 1 146068138C> A null V F 3634 3634 missense 0.887 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs879960662 1q21.1 1 146068138C> T null V I 3634 3634 missense 0.558 possibly damaging 0.27 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778590 1q21.1 1 146068133C> A null L F 3635 3635 missense 0.943 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778590 1q21.1 1 146068133C> G null L F 3635 3635 missense 0.943 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778592 1q21.1 1 146068134A> C null L W 3635 3635 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1553778588 1q21.1 1 146068132G> C null Q E 3636 3636 missense 0.34 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778584 1q21.1 1 146068130C> A null Q H 3636 3636 missense 0.763 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1305508200 1q21.1 1 146068127G> T null D E 3637 3637 missense 0.893 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1305508200 1q21.1 1 146068127G> C null D E 3637 3637 missense 0.893 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1225907087 1q21.1 1 146068129C> G null D H 3637 3637 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1225907087 1q21.1 1 146068129C> A null D Y 3637 3637 missense 0.986 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778582 1q21.1 1 146068126A> G null S P 3638 3638 missense 0.0 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778578 1q21.1 1 146068123G> T null L M 3639 3639 missense 0.959 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1207604423 1q21.1 1 146068122A> T null L Q 3639 3639 missense 0.975 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778572 1q21.1 1 146068119T> C null D G 3640 3640 missense 0.932 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1469496553 1q21.1 1 146068120C> G null D H 3640 3640 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1469496553 1q21.1 1 146068120C> T null D N 3640 3640 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1469496553 1q21.1 1 146068120C> A null D Y 3640 3640 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778570 1q21.1 1 146068117T> C null R G 3641 3641 missense 0.677 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1245847915 1q21.1 1 146068116C> T null R K 3641 3641 missense 0.455 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778567 1q21.1 1 146068115T> A null R S 3641 3641 missense 0.774 possibly damaging 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1245847915 1q21.1 1 146068116C> G null R T 3641 3641 missense 0.774 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs587640437 1q21.1 1 146068113C> A null C F 3642 3642 2.0E-4 missense 0.529 possibly damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1470398663 1q21.1 1 146068114A> G null C R 3642 3642 missense 0.352 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1178867625 1q21.1 1 146068112A> C null C W 3642 3642 missense 0.892 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,gnomAD rs587640437 1q21.1 1 146068113C> T null C Y 3642 3642 2.0E-4 missense 0.649 possibly damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782235174 1q21.1 1 146068110T> A null Y F 3643 3643 missense 0.68 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1409750557 1q21.1 1 146068107G> A null S L 3644 3644 missense 0.846 possibly damaging 0.68 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1409750557 1q21.1 1 146068107G> C null S W 3644 3644 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782004572 1q21.1 1 146068104G> A null T I 3645 3645 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778562 1q21.1 1 146068105T> A null T S 3645 3645 missense 0.828 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778561 1q21.1 1 146068101G> A null P L 3646 3646 missense 0.967 probably damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1323142350 1q21.1 1 146068095C> G null G A 3648 3648 missense 0.978 probably damaging 0.8 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1403771882 1q21.1 1 146068096C> A null G C 3648 3648 missense 0.997 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1323142350 1q21.1 1 146068095C> A null G V 3648 3648 missense 0.996 probably damaging 0.95 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1355417885 1q21.1 1 146068092T> C null Y C 3649 3649 missense 0.974 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200756003 1q21.1 1 146068090G> C null L V 3650 3650 missense 0.87 possibly damaging 0.24 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782307098 1q21.1 1 146068087C> T null E K 3651 3651 missense 0.828 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782307098 1q21.1 1 146068087C> G null E Q 3651 3651 missense 0.888 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs369317969 1q21.1 1 146068084G> C null L V 3652 3652 missense 0.87 possibly damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs111932695 1q21.1 1 146068080G> C null P R 3653 3653 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778546 1q21.1 1 146068081G> A null P S 3653 3653 missense 0.954 probably damaging 0.33 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782740095 1q21.1 1 146068076G> C null D E 3654 3654 missense 0.893 possibly damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778543 1q21.1 1 146068078C> T null D N 3654 3654 missense 0.932 probably damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778543 1q21.1 1 146068078C> A null D Y 3654 3654 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs376461865 1q21.1 1 146068073T> A null L F 3655 3655 missense 0.943 probably damaging 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1234469722 1q21.1 1 146068074A> G null L S 3655 3655 missense 0.943 probably damaging 0.82 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778537 1q21.1 1 146068075A> C null L V 3655 3655 missense 0.87 possibly damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781984066 1q21.1 1 146068072C> A null G C 3656 3656 missense 0.997 probably damaging 0.52 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778533 1q21.1 1 146068071C> T null G D 3656 3656 missense 0.994 probably damaging 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781984066 1q21.1 1 146068072C> T null G S 3656 3656 missense 0.986 probably damaging 0.45 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778533 1q21.1 1 146068071C> A null G V 3656 3656 missense 0.996 probably damaging 0.47 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778526 1q21.1 1 146068069G> A null Q * 3657 3657 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778526 1q21.1 1 146068069G> C null Q E 3657 3657 missense 0.34 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778522 1q21.1 1 146068067C> G null Q H 3657 3657 missense 0.763 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778522 1q21.1 1 146068067C> A null Q H 3657 3657 missense 0.763 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782121510 1q21.1 1 146068068T> A null Q L 3657 3657 missense 0.465 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778517 1q21.1 1 146068065G> A null P L 3658 3658 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782780412 1q21.1 1 146068066G> A null P S 3658 3658 missense 0.954 probably damaging 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782780412 1q21.1 1 146068066G> T null P T 3658 3658 missense 0.954 probably damaging 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778505 1q21.1 1 146068062T> C null Y C 3659 3659 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778505 1q21.1 1 146068062T> A null Y F 3659 3659 missense 0.68 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1249499938 1q21.1 1 146068063A> G null Y H 3659 3659 missense 0.887 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782439921 1q21.1 1 146068059C> A null S I 3660 3660 missense 0.887 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782439921 1q21.1 1 146068059C> T null S N 3660 3660 missense 0.76 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782720489 1q21.1 1 146068058G> T null S R 3660 3660 missense 0.838 possibly damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778494 1q21.1 1 146068057T> A null S C 3661 3661 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes rs587715834 1q21.1 1 146068056C> T null S N 3661 3661 2.0E-4 missense 0.76 possibly damaging 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778491 1q21.1 1 146068055A> C null S R 3661 3661 missense 0.838 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778490 1q21.1 1 146068051C> A null V F 3663 3663 missense 0.887 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781831594 1q21.1 1 146068048A> G null Y H 3664 3664 missense 0.887 possibly damaging 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1420025136 1q21.1 1 146068047T> G null Y S 3664 3664 missense 0.887 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778486 1q21.1 1 146068044G> A null S L 3665 3665 missense 0.838 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778479 1q21.1 1 146068040C> A null L F 3666 3666 missense 0.943 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1471857016 1q21.1 1 146068039C> A null E * 3667 3667 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1162874371 1q21.1 1 146068037C> A null E D 3667 3667 missense 0.764 possibly damaging 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs377475730 1q21.1 1 146068038T> C null E G 3667 3667 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs377475730 1q21.1 1 146068038T> A null E V 3667 3667 missense 0.888 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1420545714 1q21.1 1 146068036C> A null E * 3668 3668 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782489257 1q21.1 1 146068034T> A null E D 3668 3668 missense 0.764 possibly damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1420545714 1q21.1 1 146068036C> T null E K 3668 3668 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,TOPMed,gnomAD rs587600709 1q21.1 1 146068035T> A null E V 3668 3668 3.99E-4 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1306511625 1q21.1 1 146068033G> A null Q * 3669 3669 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1370371715 1q21.1 1 146068031C> A null Q H 3669 3669 missense 0.763 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778474 1q21.1 1 146068032T> C null Q R 3669 3669 missense 0.465 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782639077 1q21.1 1 146068028G> C null Y * 3670 3670 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782639077 1q21.1 1 146068028G> T null Y * 3670 3670 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1315373287 1q21.1 1 146068027G> A null L F 3671 3671 missense 0.943 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1315373287 1q21.1 1 146068027G> C null L V 3671 3671 missense 0.87 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778465 1q21.1 1 146068023C> G null G A 3672 3672 missense 0.978 probably damaging 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778467 1q21.1 1 146068024C> A null G C 3672 3672 missense 0.997 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778467 1q21.1 1 146068024C> G null G R 3672 3672 missense 0.996 probably damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778467 1q21.1 1 146068024C> T null G S 3672 3672 missense 0.986 probably damaging 0.38 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778460 1q21.1 1 146068020A> T null L * 3673 3673 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1445262314 1q21.1 1 146068019C> G null L F 3673 3673 missense 0.943 probably damaging 0.7 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1445262314 1q21.1 1 146068019C> A null L F 3673 3673 missense 0.943 probably damaging 0.7 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778454 1q21.1 1 146068018C> A null A S 3674 3674 missense 0.87 possibly damaging 0.72 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778454 1q21.1 1 146068018C> T null A T 3674 3674 missense 0.916 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1283204831 1q21.1 1 146068017G> A null A V 3674 3674 missense 0.916 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778451 1q21.1 1 146068015G> A null L F 3675 3675 missense 0.943 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1339718505 1q21.1 1 146068014A> G null L P 3675 3675 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1339718505 1q21.1 1 146068014A> C null L R 3675 3675 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778451 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146068015G> C null L V 3675 3675 missense 0.87 possibly damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778444 1q21.1 1 146068011T> A null D V 3676 3676 missense 0.98 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1215984675 1q21.1 1 146068012C> A null D Y 3676 3676 missense 0.986 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1211431766 1q21.1 1 146068009C> G null V L 3677 3677 missense 0.701 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1211431766 1q21.1 1 146068009C> A null V L 3677 3677 missense 0.701 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1211431766 1q21.1 1 146068009C> T null V M 3677 3677 missense 0.951 probably damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782546635 1q21.1 1 146068004G> T null D E 3678 3678 missense 0.893 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1440765400 1q21.1 1 146068005T> C null D G 3678 3678 missense 0.932 probably damaging 0.6 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1440765400 1q21.1 1 146068005T> A null D V 3678 3678 missense 0.98 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553778439 1q21.1 1 146068006C> A null D Y 3678 3678 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1476491114 1q21.1 1 146068003T> A null K * 3679 3679 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1470600190 1q21.1 1 146067288T> A null K I 3679 3679 missense 0.374 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782350189 1q21.1 1 146067287T> A null K N 3679 3679 missense 0.158 benign 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782121775 1q21.1 1 146067284A> C null I M 3680 3680 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777999 1q21.1 1 146067285A> C null I S 3680 3680 missense 0.774 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781982492 1q21.1 1 146067286T> C null I V 3680 3680 missense 0.271 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs145025037 1q21.1 1 146067283C> A null E * 3681 3681 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777995 1q21.1 1 146067282T> G null E A 3681 3681 missense 0.828 possibly damaging 0.03 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs145025037 1q21.1 1 146067283C> T null E K 3681 3681 missense 0.828 possibly damaging 0.23 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs145025037 1q21.1 1 146067283C> G null E Q 3681 3681 missense 0.888 possibly damaging 0.04 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782803627 1q21.1 1 146067280T> C null K E 3682 3682 missense 0.828 possibly damaging 0.02 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587646237 1q21.1 1 146067279T> A null K M 3682 3682 3.99E-4 missense 0.977 probably damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559307741 1q21.1 1 146067278C> G null K N 3682 3682 missense 0.888 possibly damaging 0.16 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782803627 1q21.1 1 146067280T> G null K Q 3682 3682 missense 0.888 possibly damaging 0.03 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587646237 1q21.1 1 146067279T> C null K R 3682 3682 3.99E-4 missense 0.828 possibly damaging 0.06 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587646237 1q21.1 1 146067279T> G null K T 3682 3682 3.99E-4 missense 0.888 possibly damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781830863 1q21.1 1 146067277T> A null K * 3683 3683 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781830863 1q21.1 1 146067277T> C null K E 3683 3683 missense 0.828 possibly damaging 0.35 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777990 1q21.1 1 146067276T> A null K M 3683 3683 missense 0.977 probably damaging 0.22 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782494127 1q21.1 1 146067275C> A null K N 3683 3683 missense 0.888 possibly damaging 0.37 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782494127 1q21.1 1 146067275C> G null K N 3683 3683 missense 0.888 possibly damaging 0.37 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782531689 1q21.1 1 146067273C> T null G E 3684 3684 missense 0.994 probably damaging 0.4 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781874807 1q21.1 1 146067274C> T null G R 3684 3684 missense 0.996 probably damaging 0.45 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781874807 1q21.1 1 146067274C> G null G R 3684 3684 missense 0.996 probably damaging 0.45 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782531689 1q21.1 1 146067273C> A null G V 3684 3684 missense 0.996 probably damaging 0.12 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781874807 1q21.1 1 146067274C> A null G W 3684 3684 missense 0.997 probably damaging 0.02 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782467629 1q21.1 1 146067271T> A null K * 3685 3685 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782467629 1q21.1 1 146067271T> C null K E 3685 3685 missense 0.828 possibly damaging 0.54 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777982 1q21.1 1 146067270T> A null K M 3685 3685 missense 0.977 probably damaging 0.02 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1315508057 1q21.1 1 146067269C> A null K N 3685 3685 missense 0.888 possibly damaging 0.12 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777975 1q21.1 1 146067267C> G null G A 3686 3686 missense 0.978 probably damaging 0.78 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777975 1q21.1 1 146067267C> T null G E 3686 3686 missense 0.994 probably damaging 0.77 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs879952315 1q21.1 1 146067268C> G null G R 3686 3686 missense 0.996 probably damaging 0.74 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs879952315 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146067268C> T null G R 3686 3686 missense 0.996 probably damaging 0.74 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777975 1q21.1 1 146067267C> A null G V 3686 3686 missense 0.996 probably damaging 0.41 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs879952315 1q21.1 1 146067268C> A null G W 3686 3686 missense 0.997 probably damaging 0.08 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782615856 1q21.1 1 146067265T> A null K * 3687 3687 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782615856 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146067265T> C null K E 3687 3687 missense 0.828 possibly damaging 0.26 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782245217 1q21.1 1 146067264T> A null K I 3687 3687 missense 0.965 probably damaging 0.07 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1163575355 1q21.1 1 146067263T> G null K N 3687 3687 missense 0.888 possibly damaging 0.15 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1163575355 1q21.1 1 146067263T> A null K N 3687 3687 missense 0.888 possibly damaging 0.15 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782615856 1q21.1 1 146067265T> G null K Q 3687 3687 missense 0.888 possibly damaging 0.34 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782245217 1q21.1 1 146067264T> C null K R 3687 3687 missense 0.828 possibly damaging 0.81 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782245217 1q21.1 1 146067264T> G null K T 3687 3687 missense 0.888 possibly damaging 0.17 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782391789 1q21.1 1 146067262T> C null K E 3688 3688 missense 0.828 possibly damaging 0.96 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782282279 1q21.1 1 146067260T> A null K N 3688 3688 missense 0.888 possibly damaging 0.12 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782282279 1q21.1 1 146067260T> G null K N 3688 3688 missense 0.888 possibly damaging 0.12 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782391789 1q21.1 1 146067262T> G null K Q 3688 3688 missense 0.888 possibly damaging 0.17 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782008410 1q21.1 1 146067261T> C null K R 3688 3688 missense 0.828 possibly damaging 0.18 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782008410 1q21.1 1 146067261T> G null K T 3688 3688 missense 0.888 possibly damaging 0.09 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782302610 1q21.1 1 146067259T> A null R * 3689 3689 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782302610 1q21.1 1 146067259T> C null R G 3689 3689 missense 0.677 possibly damaging 0.46 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs112494796 1q21.1 1 146067258C> A null R I 3689 3689 missense 0.839 possibly damaging 0.43 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs112494796 1q21.1 1 146067258C> T null R K 3689 3689 missense 0.455 possibly damaging 1.0 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781995680 1q21.1 1 146067257T> A null R S 3689 3689 missense 0.774 possibly damaging 0.57 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781995680 1q21.1 1 146067257T> G null R S 3689 3689 missense 0.774 possibly damaging 0.57 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs112494796 1q21.1 1 146067258C> G null R T 3689 3689 missense 0.774 possibly damaging 0.56 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782134017 1q21.1 1 146067256T> C null R G 3690 3690 missense 0.677 possibly damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777949 1q21.1 1 146067255C> T null R K 3690 3690 missense 0.455 possibly damaging 0.24 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777949 1q21.1 1 146067255C> A null R M 3690 3690 missense 0.923 probably damaging 0.0 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782809160 1q21.1 1 146067254C> A null R S 3690 3690 missense 0.774 possibly damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782809160 1q21.1 1 146067254C> G null R S 3690 3690 missense 0.774 possibly damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777949 1q21.1 1 146067255C> G null R T 3690 3690 missense 0.774 possibly damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782134017 1q21.1 1 146067256T> A null R W 3690 3690 missense 0.961 probably damaging 0.0 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782718259 1q21.1 1 146067252C> T null G E 3691 3691 missense 0.994 probably damaging 0.09 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782453726 1q21.1 1 146067253C> T null G R 3691 3691 missense 0.996 probably damaging 0.35 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782718259 1q21.1 1 146067252C> A null G V 3691 3691 missense 0.996 probably damaging 0.05 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777938 1q21.1 1 146067250T> A null R * 3692 3692 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777938 1q21.1 1 146067250T> C null R G 3692 3692 missense 0.677 possibly damaging 0.23 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777936 1q21.1 1 146067249C> A null R I 3692 3692 missense 0.839 possibly damaging 0.02 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777934 1q21.1 1 146067248T> A null R S 3692 3692 missense 0.774 possibly damaging 0.09 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782504012 1q21.1 1 146067246C> T null R K 3693 3693 missense 0.455 possibly damaging 0.14 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782504012 1q21.1 1 146067246C> G null R T 3693 3693 missense 0.774 possibly damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782537643 1q21.1 1 146067243G> C null S * 3694 3694 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782274446 1q21.1 1 146067244A> C null S A 3694 3694 missense 0.558 possibly damaging 0.12 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782537643 1q21.1 1 146067243G> A null S L 3694 3694 missense 0.838 possibly damaging 0.03 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777921 1q21.1 1 146067241T> A null K * 3695 3695 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs77437348 1q21.1 1 146067240T> A null K M 3695 3695 missense 0.977 probably damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs77437348 1q21.1 1 146067240T> G null K T 3695 3695 missense 0.888 possibly damaging 0.12 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777916 1q21.1 1 146067238T> A null K * 3696 3696 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1460314646 1q21.1 1 146067236C> G null K N 3696 3696 missense 0.888 possibly damaging 0.07 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1460314646 1q21.1 1 146067236C> A null K N 3696 3696 missense 0.888 possibly damaging 0.07 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782346895 1q21.1 1 146067235C> A null E * 3697 3697 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587719785 1q21.1 1 146067233T> A null E D 3697 3697 2.0E-4 missense 0.056 benign 0.08 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782256290 1q21.1 1 146067234T> C null E G 3697 3697 missense 0.056 benign 0.11 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782346895 1q21.1 1 146067235C> T null E K 3697 3697 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782346895 1q21.1 1 146067235C> G null E Q 3697 3697 missense 0.04 benign 0.3 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782256290 1q21.1 1 146067234T> A null E V 3697 3697 missense 0.11 benign 0.09 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782161808 1q21.1 1 146067232T> A null R * 3698 3698 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782161808 1q21.1 1 146067232T> C null R G 3698 3698 missense 0.677 possibly damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1464766042 1q21.1 1 146067231C> G null R T 3698 3698 missense 0.774 possibly damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782694097 1q21.1 1 146067228C> A null R I 3699 3699 missense 0.839 possibly damaging 0.2 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782694097 1q21.1 1 146067228C> T null R K 3699 3699 missense 0.455 possibly damaging 0.94 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781941991 1q21.1 1 146067227T> G null R S 3699 3699 missense 0.774 possibly damaging 0.24 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200743139 1q21.1 1 146067225C> T null R K 3700 3700 missense 0.455 possibly damaging 0.78 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200743139 1q21.1 1 146067225C> A null R M 3700 3700 missense 0.923 probably damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782149708 1q21.1 1 146067224C> A null R S 3700 3700 missense 0.774 possibly damaging 0.01 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200743139 1q21.1 1 146067225C> G null R T 3700 3700 missense 0.774 possibly damaging 0.02 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782091398 1q21.1 1 146067226T> A null R W 3700 3700 missense 0.961 probably damaging 0.0 deleterious - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781783313 1q21.1 1 146067223C> A null G * 3701 3701 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782461990 1q21.1 1 146067222C> G null G A 3701 3701 missense 0.978 probably damaging 0.2 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782461990 1q21.1 1 146067222C> T null G E 3701 3701 missense 0.994 probably damaging 0.24 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782461990 1q21.1 1 146067222C> A null G V 3701 3701 missense 0.996 probably damaging 0.06 tolerated - low confidence 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781844416 1q21.1 1 146067220T> C null R G 3702 3702 missense 0.099 benign 0.63 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1268438841 1q21.1 1 146067219C> T null R K 3702 3702 missense 0.062 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782501302 1q21.1 1 146067218T> G null R S 3702 3702 missense 0.099 benign 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782501302 1q21.1 1 146067218T> A null R S 3702 3702 missense 0.099 benign 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1361433511 1q21.1 1 146067217T> C null K E 3703 3703 missense 0.036 benign 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1559307350 1q21.1 1 146067215T> A null K N 3703 3703 missense 0.08 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782424440 1q21.1 1 146067214C> A null E * 3704 3704 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782194812 1q21.1 1 146067213T> G null E A 3704 3704 missense 0.828 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782194812 1q21.1 1 146067213T> C null E G 3704 3704 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782424440 1q21.1 1 146067214C> G null E Q 3704 3704 missense 0.888 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782027497 1q21.1 1 146067210C> T null G E 3705 3705 missense 0.55 possibly damaging 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,NCI-TCGA,TOPMed,gnomAD rs781981047 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146067211C> T null G R 3705 3705 missense 0.648 possibly damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781981047 1q21.1 1 146067211C> G null G R 3705 3705 missense 0.648 possibly damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782027497 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146067210C> A null G V 3705 3705 missense 0.01 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781981047 1q21.1 1 146067211C> A null G W 3705 3705 missense 0.889 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs781813415 1q21.1 1 146067208C> A null E * 3706 3706 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587757225 1q21.1 1 146067206T> A null E D 3706 3706 2.0E-4 missense 0.764 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs781813415 1q21.1 1 146067208C> G null E Q 3706 3706 missense 0.888 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782101147 1q21.1 1 146067207T> A null E V 3706 3706 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782684298 1q21.1 1 146067203T> A null E D 3707 3707 missense 0.764 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782543519 1q21.1 1 146067204T> C null E G 3707 3707 missense 0.888 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1239854588 1q21.1 1 146067205C> T null E K 3707 3707 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782604523 1q21.1 1 146067201T> C null D G 3708 3708 missense 0.932 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs201525063 1q21.1 1 146067202C> G null D H 3708 3708 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs201525063 1q21.1 1 146067202C> T null D N 3708 3708 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782604523 1q21.1 1 146067201T> A null D V 3708 3708 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs201525063 1q21.1 1 146067202C> A null D Y 3708 3708 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782381506 1q21.1 1 146067199G> A null Q * 3709 3709 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782381506 1q21.1 1 146067199G> C null Q E 3709 3709 missense 0.34 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777869 1q21.1 1 146067198T> G null Q P 3709 3709 missense 0.679 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777869 1q21.1 1 146067198T> C null Q R 3709 3709 missense 0.465 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782674675 1q21.1 1 146067195T> G null N T 3710 3710 missense 0.107 benign 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782306085 1q21.1 1 146067192G> A null P L 3711 3711 missense 0.967 probably damaging 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782306085 1q21.1 1 146067192G> T null P Q 3711 3711 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782290276 1q21.1 1 146067193G> A null P S 3711 3711 missense 0.954 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782079552 1q21.1 1 146067190G> C null P A 3712 3712 missense 0.054 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781989138 1q21.1 1 146067189G> A null P L 3712 3712 missense 0.217 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781989138 1q21.1 1 146067189G> C null P R 3712 3712 missense 0.279 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782079552 1q21.1 1 146067190G> A null P S 3712 3712 missense 0.007 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC rs587647639 1q21.1 1 146067186C> A null C F 3713 3713 2.0E-4 missense 0.887 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777864 1q21.1 1 146067187A> G null C R 3713 3713 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777864 1q21.1 1 146067187A> T null C S 3713 3713 missense 0.76 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782714690 1q21.1 1 146067185G> C null C W 3713 3713 missense 0.973 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC rs587647639 1q21.1 1 146067186C> T null C Y 3713 3713 2.0E-4 missense 0.917 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587731664 1q21.1 1 146067184G> C null P A 3714 3714 3.99E-4 missense 0.954 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777859 1q21.1 1 146067183G> A null P L 3714 3714 missense 0.978 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587731664 1q21.1 1 146067184G> A null P S 3714 3714 3.99E-4 missense 0.969 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587731664 1q21.1 1 146067184G> T null P T 3714 3714 3.99E-4 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782554119 1q21.1 1 146067180C> T null R K 3715 3715 missense 0.557 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782284796 1q21.1 1 146066561C> A null R S 3715 3715 missense 0.838 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782562165 1q21.1 1 146067181T> A null R W 3715 3715 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782431505 1q21.1 1 146066560G> A null L F 3716 3716 missense 0.962 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777460 1q21.1 1 146066559A> G null L P 3716 3716 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777460 1q21.1 1 146066559A> C null L R 3716 3716 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782431505 1q21.1 1 146066560G> C null L V 3716 3716 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782201158 1q21.1 1 146066557T> C null N D 3717 3717 missense 0.059 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782624378 1q21.1 1 146066556T> A null N I 3717 3717 missense 0.299 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200156319 1q21.1 1 146066555G> C null N K 3717 3717 missense 0.105 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs200156319 1q21.1 1 146066555G> T null N K 3717 3717 missense 0.105 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782624378 1q21.1 1 146066556T> C null N S 3717 3717 missense 0.001 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782624378 1q21.1 1 146066556T> G null N T 3717 3717 missense 0.059 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782201158 1q21.1 1 146066557T> A null N Y 3717 3717 missense 0.466 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782055864 1q21.1 1 146066554C> A null G C 3718 3718 missense 0.874 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782095200 1q21.1 1 146066553C> T null G D 3718 3718 missense 0.354 benign 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782055864 1q21.1 1 146066554C> G null G R 3718 3718 missense 0.011 benign 0.69 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782055864 1q21.1 1 146066554C> T null G S 3718 3718 missense 0.234 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782095200 1q21.1 1 146066553C> A null G V 3718 3718 missense 0.474 possibly damaging 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782462737 1q21.1 1 146066550A> T null V E 3719 3719 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587745352 1q21.1 1 146066551C> G null V L 3719 3719 9.98E-4 missense 0.122 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587745352 1q21.1 1 146066551C> A null V L 3719 3719 9.98E-4 missense 0.122 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587745352 1q21.1 1 146066551C> T null V M 3719 3719 9.98E-4 missense 0.584 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782672566 1q21.1 1 146066547A> C null L R 3720 3720 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587675805 1q21.1 1 146066548G> C null L V 3720 3720 2.0E-4 missense 0.91 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781991164 1q21.1 1 146066543C> T null M I 3721 3721 missense 0.006 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781991164 1q21.1 1 146066543C> A null M I 3721 3721 missense 0.006 benign 0.19 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782359794 1q21.1 1 146066544A> T null M K 3721 3721 missense 0.065 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs376107446 1q21.1 1 146066545T> A null M L 3721 3721 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782359794 1q21.1 1 146066544A> G null M T 3721 3721 missense 0.03 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs376107446 1q21.1 1 146066545T> C null M V 3721 3721 missense 0.006 benign 0.56 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777432 1q21.1 1 146066542C> A null E * 3722 3722 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs12128680 1q21.1 1 146066541T> G null E A 3722 3722 missense 0.0 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782040652 1q21.1 1 146066540T> A null E D 3722 3722 missense 0.0 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782040652 1q21.1 1 146066540T> G null E D 3722 3722 missense 0.0 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587726261 1q21.1 1 146066539C> A null V L 3723 3723 2.0E-4 missense 0.069 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587726261 1q21.1 1 146066539C> T null V M 3723 3723 2.0E-4 missense 0.568 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587649731 1q21.1 1 146066536C> A null E * 3724 3724 5.99E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs199922176 1q21.1 1 146066535T> C null E G 3724 3724 missense 0.082 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587649731 1q21.1 1 146066536C> T null E K 3724 3724 5.99E-4 missense 0.0 benign 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587649731 1q21.1 1 146066536C> G null E Q 3724 3724 5.99E-4 missense 0.059 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs199922176 1q21.1 1 146066535T> A null E V 3724 3724 missense 0.157 benign 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782475764 1q21.1 1 146066531C> A null E D 3725 3725 missense 0.14 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782475764 1q21.1 1 146066531C> G null E D 3725 3725 missense 0.14 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781813541 1q21.1 1 146066532T> C null E G 3725 3725 missense 0.003 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782556325 1q21.1 1 146066533C> T null E K 3725 3725 missense 0.21 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781813541 1q21.1 1 146066532T> A null E V 3725 3725 missense 0.359 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs201192694 1q21.1 1 146066530G> A null R C 3726 3726 missense 0.648 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs201192694 1q21.1 1 146066530G> C null R G 3726 3726 missense 0.181 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs1043749 1q21.1 1 146066529C> T null R H 3726 3726 missense 0.578 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs1043749 1q21.1 1 146066529C> A null R L 3726 3726 missense 0.181 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs1043749 1q21.1 1 146066529C> G null R P 3726 3726 missense 0.001 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782224099 1q21.1 1 146066527C> A null E * 3727 3727 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587705278 1q21.1 1 146066525T> A null E D 3727 3727 2.0E-4 missense 0.979 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587705278 1q21.1 1 146066525T> G null E D 3727 3727 2.0E-4 missense 0.979 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782368338 1q21.1 1 146066526T> C null E G 3727 3727 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782224099 1q21.1 1 146066527C> T null E K 3727 3727 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782368338 1q21.1 1 146066526T> A null E V 3727 3727 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782066584 1q21.1 1 146066523A> G null V A 3728 3728 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782800802 1q21.1 1 146066524C> A null V F 3728 3728 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782800802 1q21.1 1 146066524C> T null V I 3728 3728 missense 0.949 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782731974 1q21.1 1 146066519T> A null L F 3729 3729 missense 0.994 probably damaging 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1474930495 1q21.1 1 146066521A> T null L I 3729 3729 missense 0.979 probably damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777409 1q21.1 1 146066520A> G null L S 3729 3729 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777404 1q21.1 1 146066518G> A null Q * 3730 3730 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777404 1q21.1 1 146066518G> C null Q E 3730 3730 missense 0.878 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782506376 1q21.1 1 146066517T> C null Q R 3730 3730 missense 0.946 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782474736 1q21.1 1 146066513G> T null D E 3731 3731 missense 0.987 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782474736 1q21.1 1 146066513G> C null D E 3731 3731 missense 0.987 probably damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782204848 1q21.1 1 146066514T> C null D G 3731 3731 missense 0.991 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781891809 1q21.1 1 146066515C> G null D H 3731 3731 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781891809 1q21.1 1 146066515C> T null D N 3731 3731 missense 0.991 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782204848 1q21.1 1 146066514T> A null D V 3731 3731 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781891809 1q21.1 1 146066515C> A null D Y 3731 3731 missense 0.998 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587762385 1q21.1 1 146066511G> T null S * 3732 3732 2.0E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587762385 1q21.1 1 146066511G> C null S * 3732 3732 2.0E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587762385 1q21.1 1 146066511G> A null S L 3732 3732 2.0E-4 missense 0.21 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782033506 1q21.1 1 146066509G> C null L V 3733 3733 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587715300 1q21.1 1 146066505T> C null D G 3734 3734 3.99E-4 missense 0.125 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587635605 1q21.1 1 146066506C> G null D H 3734 3734 3.99E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587635605 1q21.1 1 146066506C> T null D N 3734 3734 3.99E-4 missense 0.84 possibly damaging 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587715300 1q21.1 1 146066505T> A null D V 3734 3734 3.99E-4 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587635605 1q21.1 1 146066506C> A null D Y 3734 3734 3.99E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782157275 1q21.1 1 146066503T> A null R * 3735 3735 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782157275 1q21.1 1 146066503T> C null R G 3735 3735 missense 0.001 benign 0.2 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782452908 1q21.1 1 146066502C> T null R K 3735 3735 missense 0.153 benign 0.59 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782452908 1q21.1 1 146066502C> G null R T 3735 3735 missense 0.215 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782660387 1q21.1 1 146066498A> T null C * 3736 3736 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781848695 1q21.1 1 146066499C> A null C F 3736 3736 missense 0.862 possibly damaging 0.09 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782660387 1q21.1 1 146066498A> C null C W 3736 3736 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781848695 1q21.1 1 146066499C> T null C Y 3736 3736 missense 0.904 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1218188154 1q21.1 1 146066496T> C null Y C 3737 3737 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1218188154 1q21.1 1 146066496T> A null Y F 3737 3737 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782433419 1q21.1 1 146066497A> G null Y H 3737 3737 missense 0.994 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782433419 1q21.1 1 146066497A> T null Y N 3737 3737 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587618626 1q21.1 1 146066493G> T null S * 3738 3738 7.99E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587618626 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146066493G> A null S L 3738 3738 7.99E-4 missense 0.975 probably damaging 0.54 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587618626 1q21.1 1 146066493G> C null S W 3738 3738 7.99E-4 missense 0.997 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782043793 1q21.1 1 146066490G> C null T S 3739 3739 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782414068 1q21.1 1 146066491T> A null T S 3739 3739 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782335784 1q21.1 1 146066487G> A null P L 3740 3740 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782057712 1q21.1 1 146066488G> A null P S 3740 3740 missense 0.994 probably damaging 0.48 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782057712 1q21.1 1 146066488G> T null P T 3740 3740 missense 0.996 probably damaging 0.5 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs61813437 1q21.1 1 146066484G> C null S * 3741 3741 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs61813437 1q21.1 1 146066484G> T null S * 3741 3741 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs61813437 1q21.1 1 146066484G> A null S L 3741 3741 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782627333 1q21.1 1 146066480C> A null M I 3742 3742 missense 0.084 benign 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782627333 1q21.1 1 146066480C> T null M I 3742 3742 missense 0.084 benign 0.37 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782467607 1q21.1 1 146066481A> T null M K 3742 3742 missense 0.029 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs111450370 1q21.1 1 146066482T> G null M L 3742 3742 missense 0.024 benign 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782467607 1q21.1 1 146066481A> G null M T 3742 3742 missense 0.022 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs111450370 1q21.1 1 146066482T> C null M V 3742 3742 missense 0.04 benign 0.4 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782659020 1q21.1 1 146066477G> C null Y * 3743 3743 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,TOPMed,gnomAD rs111770733 1q21.1 1 146066478T> A null Y F 3743 3743 0.00619 missense 0.269 benign 0.39 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782530129 1q21.1 1 146066479A> G null Y H 3743 3743 missense 0.656 possibly damaging 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 Ensembl rs1065064 1q21.1 1 146066475A> C null F C 3744 3744 missense 0.66 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782588543 1q21.1 1 146066473C> A null E * 3745 3745 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781997329 1q21.1 1 146066471T> A null E D 3745 3745 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782370476 1q21.1 1 146066472T> C null E G 3745 3745 missense 0.986 probably damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782588543 1q21.1 1 146066473C> T null E K 3745 3745 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,NCI-TCGA,TOPMed,gnomAD rs782588543 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146066473C> G null E Q 3745 3745 missense 0.986 probably damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782370476 1q21.1 1 146066472T> A null E V 3745 3745 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782136106 1q21.1 1 146066470G> T null L I 3746 3746 missense 0.789 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782136106 1q21.1 1 146066470G> C null L V 3746 3746 missense 0.789 possibly damaging 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782067267 1q21.1 1 146066467G> C null P A 3747 3747 missense 0.114 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587714222 1q21.1 1 146066466G> A null P L 3747 3747 2.0E-4 missense 0.173 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587714222 1q21.1 1 146066466G> C null P R 3747 3747 2.0E-4 missense 0.463 possibly damaging 0.18 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782067267 1q21.1 1 146066467G> A null P S 3747 3747 missense 0.173 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782067267 1q21.1 1 146066467G> T null P T 3747 3747 missense 0.007 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1349487292 1q21.1 1 146066463T> G null D A 3748 3748 missense 0.994 probably damaging 0.31 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782770458 1q21.1 1 146066462G> C null D E 3748 3748 missense 0.987 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782770458 1q21.1 1 146066462G> T null D E 3748 3748 missense 0.987 probably damaging 0.15 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1349487292 1q21.1 1 146066463T> C null D G 3748 3748 missense 0.991 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782120977 1q21.1 1 146066464C> T null D N 3748 3748 missense 0.991 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1349487292 1q21.1 1 146066463T> A null D V 3748 3748 missense 0.997 probably damaging 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782120977 1q21.1 1 146066464C> A null D Y 3748 3748 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782551855 1q21.1 1 146066460G> C null S * 3749 3749 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781889346 1q21.1 1 146066461A> G null S P 3749 3749 missense 0.359 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781889346 1q21.1 1 146066461A> T null S T 3749 3749 missense 0.099 benign 0.41 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781813891 1q21.1 1 146066456G> C null F L 3750 3750 missense 0.023 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587769133 1q21.1 1 146066453C> G null Q H 3751 3751 2.0E-4 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587769133 1q21.1 1 146066453C> A null Q H 3751 3751 2.0E-4 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782627933 1q21.1 1 146066454T> G null Q P 3751 3751 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782668331 1q21.1 1 146066452G> C null H D 3752 3752 missense 0.107 benign 0.28 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782175619 1q21.1 1 146066451T> A null H L 3752 3752 missense 0.107 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782175619 1q21.1 1 146066451T> G null H P 3752 3752 missense 0.0 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781946840 1q21.1 1 146066450G> C null H Q 3752 3752 missense 0.142 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781946840 1q21.1 1 146066450G> T null H Q 3752 3752 missense 0.142 benign 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782668331 1q21.1 1 146066452G> A null H Y 3752 3752 missense 0.196 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782151920 1q21.1 1 146066447G> T null Y * 3753 3753 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782151920 1q21.1 1 146066447G> C null Y * 3753 3753 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782377594 1q21.1 1 146066448T> C null Y C 3753 3753 missense 0.997 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782377594 1q21.1 1 146066448T> A null Y F 3753 3753 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782377594 1q21.1 1 146066448T> G null Y S 3753 3753 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782072902 1q21.1 1 146066446T> C null R G 3754 3754 missense 0.001 benign 0.36 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587644633 1q21.1 1 146066445C> A null R I 3754 3754 2.0E-4 missense 0.154 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587644633 1q21.1 1 146066445C> T null R K 3754 3754 2.0E-4 missense 0.036 benign 0.86 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587644633 1q21.1 1 146066445C> G null R T 3754 3754 2.0E-4 missense 0.036 benign 0.69 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782791086 1q21.1 1 146066443T> A null S C 3755 3755 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782791086 1q21.1 1 146066443T> C null S G 3755 3755 missense 0.961 probably damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782425088 1q21.1 1 146066442C> T null S N 3755 3755 missense 0.961 probably damaging 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782791086 1q21.1 1 146066443T> G null S R 3755 3755 missense 0.988 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782425088 1q21.1 1 146066442C> G null S T 3755 3755 missense 0.961 probably damaging 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1445288924 1q21.1 1 146066439A> G null V A 3756 3756 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1403010763 1q21.1 1 146066440C> A null V L 3756 3756 missense 0.036 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782638853 1q21.1 1 146066437A> T null F I 3757 3757 missense 0.015 benign 0.23 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782638853 1q21.1 1 146066437A> G null F L 3757 3757 missense 0.009 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782638853 1q21.1 1 146066437A> C null F V 3757 3757 missense 0.0 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782035706 1q21.1 1 146066432G> C null Y * 3758 3758 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782035706 1q21.1 1 146066432G> T null Y * 3758 3758 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782406715 1q21.1 1 146066434A> G null Y H 3758 3758 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,TOPMed,gnomAD rs587598797 1q21.1 1 146066430G> C null S * 3759 3759 2.0E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,TOPMed,gnomAD rs587598797 1q21.1 1 146066430G> A null S L 3759 3759 2.0E-4 missense 0.007 benign 0.41 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782183704 1q21.1 1 146066431A> G null S P 3759 3759 missense 0.324 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587706632 1q21.1 1 146066427A> C null F C 3760 3760 2.0E-4 missense 0.621 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587668017 1q21.1 1 146066428A> G null F L 3760 3760 2.0E-4 missense 0.0 benign 0.95 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587706632 1q21.1 1 146066427A> G null F S 3760 3760 2.0E-4 missense 0.192 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782693018 1q21.1 1 146066425C> A null E * 3761 3761 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782080988 1q21.1 1 146066424T> C null E G 3761 3761 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782693018 1q21.1 1 146066425C> G null E Q 3761 3761 missense 0.884 possibly damaging 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782080988 1q21.1 1 146066424T> A null E V 3761 3761 missense 0.959 probably damaging 0.17 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781852539 1q21.1 1 146066422C> A null E * 3762 3762 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781852539 1q21.1 1 146066422C> T null E K 3762 3762 missense 0.031 benign 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs16826711 1q21.1 1 146066419G> A null Q * 3763 3763 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs16826711 1q21.1 1 146066419G> C null Q E 3763 3763 missense 0.02 benign 0.62 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777321 1q21.1 1 146066417C> G null Q H 3763 3763 missense 0.72 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed rs1443021537 1q21.1 1 146066418T> A null Q L 3763 3763 missense 0.332 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777316 1q21.1 1 146066415T> A null H L 3764 3764 missense 0.023 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782437681 1q21.1 1 146066416G> T null H N 3764 3764 missense 0.005 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs16826714 1q21.1 1 146066414G> C null H Q 3764 3764 missense 0.007 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782364938 1q21.1 1 146066413T> A null I F 3765 3765 missense 0.11 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587625465 1q21.1 1 146066411G> C null I M 3765 3765 2.0E-4 missense 0.169 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC rs782268715 1q21.1 1 146066412A> C null I S 3765 3765 missense 0.027 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782364938 1q21.1 1 146066413T> C null I V 3765 3765 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781913351 1q21.1 1 146066410T> A null S C 3766 3766 missense 0.52 possibly damaging 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1475010216 1q21.1 1 146066409C> A null S I 3766 3766 missense 0.136 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1475010216 1q21.1 1 146066409C> T null S N 3766 3766 missense 0.018 benign 0.32 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782062067 1q21.1 1 146066408G> C null S R 3766 3766 missense 0.136 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1464491412 1q21.1 1 146066407A> G null F L 3767 3767 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777306 1q21.1 1 146066406A> G null F S 3767 3767 missense 0.192 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587680661 1q21.1 1 146066404C> G null A P 3768 3768 3.99E-4 missense 0.744 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587680661 1q21.1 1 146066404C> A null A S 3768 3768 3.99E-4 missense 0.078 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587680661 1q21.1 1 146066404C> T null A T 3768 3768 3.99E-4 missense 0.063 benign 0.3 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781885942 1q21.1 1 146066403G> A null A V 3768 3768 missense 0.108 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782165147 1q21.1 1 146066401G> A null L F 3769 3769 missense 0.039 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782165147 1q21.1 1 146066401G> T null L I 3769 3769 missense 0.012 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781812344 1q21.1 1 146066400A> C null L R 3769 3769 missense 0.446 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782165147 1q21.1 1 146066401G> C null L V 3769 3769 missense 0.003 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587633590 1q21.1 1 146066396G> T null Y * 3770 3770 3.99E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587633590 1q21.1 1 146066396G> C null Y * 3770 3770 3.99E-4 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782474118 1q21.1 1 146066398A> C null Y D 3770 3770 missense 0.0 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782628521 1q21.1 1 146066397T> A null Y F 3770 3770 missense 0.125 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782474118 1q21.1 1 146066398A> G null Y H 3770 3770 missense 0.248 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1345630751 1q21.1 1 146066394A> G null V A 3771 3771 missense 0.079 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1345630751 1q21.1 1 146066394A> C null V G 3771 3771 missense 0.328 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587670519 1q21.1 1 146066395C> A null V L 3771 3771 2.0E-4 missense 0.006 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587670519 1q21.1 1 146066395C> T null V M 3771 3771 2.0E-4 missense 0.013 benign 0.35 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782374929 1q21.1 1 146066390G> C null D E 3772 3772 missense 0.882 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782598655 1q21.1 1 146066391T> C null D G 3772 3772 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs367783280 1q21.1 1 146066392C> T null D N 3772 3772 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782598655 1q21.1 1 146066391T> A null D V 3772 3772 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs367783280 1q21.1 1 146066392C> A null D Y 3772 3772 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782276047 1q21.1 1 146066389T> G null N H 3773 3773 missense 0.503 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782071108 1q21.1 1 146066387A> C null N K 3773 3773 missense 0.007 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781922787 1q21.1 1 146066388T> C null N S 3773 3773 missense 0.012 benign 0.34 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782276047 1q21.1 1 146066389T> A null N Y 3773 3773 missense 0.477 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782736929 1q21.1 1 146066386T> C null R G 3774 3774 missense 0.066 benign 0.13 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782124921 1q21.1 1 146066385C> T null R K 3774 3774 missense 0.045 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782124921 1q21.1 1 146066385C> A null R M 3774 3774 missense 0.358 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed rs587742572 1q21.1 1 146066384C> A null R S 3774 3774 2.0E-4 missense 0.009 benign 0.05 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782124921 1q21.1 1 146066385C> G null R T 3774 3774 missense 0.003 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782736929 1q21.1 1 146066386T> A null R W 3774 3774 missense 0.835 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781815532 1q21.1 1 146066383A> T null F I 3775 3775 missense 0.066 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781815532 1q21.1 1 146066383A> G null F L 3775 3775 missense 0.045 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782629884 1q21.1 1 146066381A> C null F L 3775 3775 missense 0.045 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781815532 1q21.1 1 146066383A> C null F V 3775 3775 missense 0.003 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777289 1q21.1 1 146066379A> C null F C 3776 3776 missense 0.789 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777289 1q21.1 1 146066379A> G null F S 3776 3776 missense 0.204 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587623966 1q21.1 1 146066376G> A null T I 3777 3777 0.002796 missense 0.073 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587623966 1q21.1 1 146066376G> T null T N 3777 3777 0.002796 missense 0.117 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782535380 1q21.1 1 146066377T> G null T P 3777 3777 missense 0.281 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587623966 1q21.1 1 146066376G> C null T S 3777 3777 0.002796 missense 0.005 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782535380 1q21.1 1 146066377T> A null T S 3777 3777 missense 0.005 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777287 1q21.1 1 146066373A> T null L * 3778 3778 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781956349 1q21.1 1 146066372C> G null L F 3778 3778 missense 0.846 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781956349 1q21.1 1 146066372C> A null L F 3778 3778 missense 0.846 possibly damaging 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782382120 1q21.1 1 146066371T> C null T A 3779 3779 missense 0.26 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782008042 1q21.1 1 146066370G> A null T M 3779 3779 missense 0.171 benign 0.21 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782008042 1q21.1 1 146066370G> C null T R 3779 3779 missense 0.356 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed rs782382120 1q21.1 1 146066371T> A null T S 3779 3779 missense 0.327 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777280 1q21.1 1 146066367A> G null V A 3780 3780 missense 0.683 possibly damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs267597995 1q21.1 1 146066368C> A null V L 3780 3780 missense 0.876 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs267597995 1q21.1 1 146066368C> G null V L 3780 3780 missense 0.876 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs267597995 1q21.1 1 146066368C> T null V M 3780 3780 missense 0.984 probably damaging 0.11 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777278 1q21.1 1 146066365T> C null T A 3781 3781 missense 0.033 benign 0.25 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777278 1q21.1 1 146066365T> G null T P 3781 3781 missense 0.251 benign 0.07 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781851585 1q21.1 1 146066364G> C null T R 3781 3781 missense 0.111 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782793381 1q21.1 1 146066362T> A null S C 3782 3782 missense 0.789 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782793381 1q21.1 1 146066362T> C null S G 3782 3782 missense 0.136 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782439376 1q21.1 1 146066361C> A null S I 3782 3782 missense 0.43 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782439376 1q21.1 1 146066361C> T null S N 3782 3782 missense 0.158 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782793381 1q21.1 1 146066362T> G null S R 3782 3782 missense 0.007 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782213009 1q21.1 1 146066359G> A null L F 3783 3783 missense 0.43 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777273 1q21.1 1 146066358A> T null L H 3783 3783 missense 0.059 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777273 1q21.1 1 146066358A> G null L P 3783 3783 missense 0.351 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777273 1q21.1 1 146066358A> C null L R 3783 3783 missense 0.117 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782213009 1q21.1 1 146066359G> C null L V 3783 3783 missense 0.075 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587760046 1q21.1 1 146066356G> C null H D 3784 3784 2.0E-4 missense 0.245 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782649000 1q21.1 1 146066355T> A null H L 3784 3784 missense 0.069 benign 0.63 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782649000 1q21.1 1 146066355T> G null H P 3784 3784 missense 0.422 benign 0.16 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587632486 1q21.1 1 146066354G> C null H Q 3784 3784 3.99E-4 missense 0.146 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587632486 1q21.1 1 146066354G> T null H Q 3784 3784 3.99E-4 missense 0.146 benign 0.12 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs587760046 1q21.1 1 146066356G> A null H Y 3784 3784 2.0E-4 missense 0.001 benign 0.26 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777268 1q21.1 1 146066353G> T null L M 3785 3785 missense 0.675 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782337122 1q21.1 1 146066352A> G null L P 3785 3785 missense 0.809 possibly damaging 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777268 1q21.1 1 146066353G> C null L V 3785 3785 missense 0.006 benign 0.03 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1197426541 1q21.1 1 146066350C> G null V L 3786 3786 missense 0.179 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1197426541 1q21.1 1 146066350C> A null V L 3786 3786 missense 0.179 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587767856 1q21.1 1 146066345G> C null F L 3787 3787 2.0E-4 missense 0.006 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782381425 1q21.1 1 146066347A> G null F L 3787 3787 missense 0.006 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587642846 1q21.1 1 146066342C> A null Q H 3788 3788 5.99E-4 missense 0.532 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587642846 1q21.1 1 146066342C> G null Q H 3788 3788 5.99E-4 missense 0.532 possibly damaging 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782701263 1q21.1 1 146066343T> C null Q R 3788 3788 missense 0.137 benign 0.29 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587718970 1q21.1 1 146066339C> G null M I 3789 3789 2.0E-4 missense 0.012 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587718970 1q21.1 1 146066339C> A null M I 3789 3789 2.0E-4 missense 0.012 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,gnomAD rs587718970 1q21.1 1 146066339C> T null M I 3789 3789 2.0E-4 missense 0.012 benign 0.14 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1392702653 1q21.1 1 146066341T> A null M L 3789 3789 missense 0.0 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782082099 1q21.1 1 146066340A> G null M T 3789 3789 missense 0.045 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs201638494 1q21.1 1 146066338C> A null G * 3790 3790 0.004193 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781783054 1q21.1 1 146066337C> T null G E 3790 3790 missense 0.047 benign 0.22 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 1000Genomes,ExAC,TOPMed,gnomAD rs201638494 1q21.1 1 146066338C> T null G R 3790 3790 0.004193 missense 0.452 possibly damaging 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781783054 1q21.1 1 146066337C> A null G V 3790 3790 missense 0.349 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782366859 1q21.1 1 146066335C> A null V F 3791 3791 missense 0.371 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777257 1q21.1 1 146066334A> C null V G 3791 3791 missense 0.039 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782366859 1q21.1 1 146066335C> T null V I 3791 3791 missense 0.045 benign 0.1 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1391235944 1q21.1 1 146066331A> T null I K 3792 3792 missense 0.076 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782432135 1q21.1 1 146066332T> A null I L 3792 3792 missense 0.012 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781921612 1q21.1 1 146066330T> C null I M 3792 3792 missense 0.358 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 TOPMed,gnomAD rs1391235944 1q21.1 1 146066331A> C null I R 3792 3792 missense 0.195 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782432135 1q21.1 1 146066332T> C null I V 3792 3792 missense 0.001 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782068294 1q21.1 1 146066329A> T null F I 3793 3793 missense 0.109 benign 0.01 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782068294 1q21.1 1 146066329A> C null F V 3793 3793 missense 0.109 benign 0.04 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777254 1q21.1 1 146066325G> A null P L 3794 3794 missense 0.474 possibly damaging 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781975609 1q21.1 1 146066326G> A null P S 3794 3794 missense 0.234 benign 0.0 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781895465 1q21.1 1 146066323G> A null Q * 3795 3795 stop gained 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781895465 1q21.1 1 146066323G> C null Q E 3795 3795 missense 0.001 benign 0.05 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs782483001 1q21.1 1 146066321T> A null Q H 3795 3795 missense 0.023 benign 1.0 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,TOPMed,gnomAD rs781895465 1q21.1 1 146066323G> T null Q K 3795 3795 missense 0.048 benign 0.08 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782710591 1q21.1 1 146066322T> A null Q L 3795 3795 missense 0.137 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782710591 1q21.1 1 146066322T> G null Q P 3795 3795 missense 0.18 benign 0.02 deleterious 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782710591 1q21.1 1 146066322T> C null Q R 3795 3795 missense 0.076 benign 0.06 tolerated 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777251 1q21.1 1 146066320A> T null * K 3796 3796 stop lost 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs781867362 1q21.1 1 146066319T> A null * L 3796 3796 stop lost 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 gnomAD rs1553777251 1q21.1 1 146066320A> G null * Q 3796 3796 stop lost 0 A0A075B762 NBPF10 Neuroblastoma breakpoint family member 10 ExAC,gnomAD rs782542462 1q21.1 1 146066318T> A null * Y 3796 3796 stop lost 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393899 1q32.1 1 206507611G> C null M I 3 3 missense 0.017 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393895 1q32.1 1 206507609A> T null M L 3 3 missense 0.011 benign 0.03 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393895 1q32.1 1 206507609A> C null M L 3 3 missense 0.011 benign 0.03 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393895 1q32.1 1 206507609A> G null M V 3 3 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393905 1q32.1 1 206507622C> T null A V 7 7 missense 0.078 benign 0.38 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1015628700 1q32.1 1 206507628G> C null G A 9 9 missense 0.873 possibly damaging 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs868979518 1q32.1 1 206507627G> T null G W 9 9 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1364626634 1q32.1 1 206507632G> T null Q H 10 10 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs868946180 1q32.1 1 206507633C> T null R C 11 11 missense 0.683 possibly damaging 0.06 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs868946180 1q32.1 1 206507633C> A null R S 11 11 missense 0.283 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1431058319 1q32.1 1 206507637C> T null P L 12 12 missense 0.05 benign 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393920 1q32.1 1 206507636C> T null P S 12 12 missense 0.009 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782180379 1q32.1 1 206507639T> G null Y D 13 13 missense 0.987 probably damaging 0.37 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782359788 1q32.1 1 206507640A> C null Y S 13 13 missense 0.981 probably damaging 0.35 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs781952718 1q32.1 1 206507643C> T null P L 14 14 missense 0.011 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs781952718 1q32.1 1 206507643C> A null P Q 14 14 missense 0.025 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1416774848 1q32.1 1 206507642C> T null P S 14 14 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1416774848 1q32.1 1 206507642C> A null P T 14 14 missense 0.007 benign 0.03 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782422450 1q32.1 1 206507645C> A null L I 15 15 missense 0.952 probably damaging 0.18 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393931 1q32.1 1 206507648C> A null L I 16 16 missense 0.303 benign 0.1 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782066092 1q32.1 1 206507649T> A null L Q 16 16 missense 0.521 possibly damaging 0.03 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs868966664 1q32.1 1 206507653G> T null L F 17 17 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393935 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q32.1 1 206507655A> C null D A 18 18 missense 0.131 benign 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393936 1q32.1 1 206507657C> T null P S 19 19 missense 0.062 benign 0.2 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782073723 1q32.1 1 206507660G> T null E * 20 20 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782073723 1q32.1 1 206507660G> A null E K 20 20 missense 0.516 possibly damaging 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782073723 1q32.1 1 206507660G> C null E Q 20 20 missense 0.283 benign 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393942 1q32.1 1 206507664C> A null P Q 21 21 missense 0.37 benign 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393941 1q32.1 1 206507663C> A null P T 21 21 missense 0.878 possibly damaging 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782799787 1q32.1 1 206507666C> T null P S 22 22 missense 0.36 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs781866355 1q32.1 1 206507670G> T null R L 23 23 missense 0.046 benign 0.17 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393948 1q32.1 1 206507669C> A null R S 23 23 missense 0.062 benign 0.11 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1553393959 1q32.1 1 206507679A> G null Q R 26 26 missense 0.043 benign 0.64 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393961 1q32.1 1 206507682G> A null S N 27 27 missense 0.048 benign 0.09 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393961 1q32.1 1 206507682G> C null S T 27 27 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs781808271 1q32.1 1 206507685T> A null L Q 28 28 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393964 1q32.1 1 206507687A> G null S G 29 29 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs967794608 1q32.1 1 206507690G> T null G C 30 30 missense 0.509 possibly damaging 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs967794608 1q32.1 1 206507690G> A null G S 30 30 missense 0.001 benign 0.07 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782610236 1q32.1 1 206507693C> T null P S 31 31 missense 0.003 benign 0.19 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs977724049 1q32.1 1 206507698G> C null E D 32 32 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393969 1q32.1 1 206507696G> C null E Q 32 32 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1402818896 1q32.1 1 206507703C> T null P L 34 34 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs369172848 1q32.1 1 206507708C> A null P T 36 36 missense 0.137 benign 0.34 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs923642211 1q32.1 1 206507711C> T null P S 37 37 missense 0.16 benign 0.1 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs923642211 1q32.1 1 206507711C> A null P T 37 37 missense 0.01 benign 0.09 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393978 1q32.1 1 206507714C> G null P A 38 38 missense 0.014 benign 0.06 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs557108539 1q32.1 1 206507715C> A null P H 38 38 3.99E-4 missense 0.308 benign 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs557108539 1q32.1 1 206507715C> T null P L 38 38 3.99E-4 missense 0.066 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs557108539 1q32.1 1 206507715C> G null P R 38 38 3.99E-4 missense 0.149 benign 0.04 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1169220169 1q32.1 1 206507719C> A null D E 39 39 missense 0.003 benign 0.35 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs993098629 1q32.1 1 206507721G> T null R L 40 40 missense 0.028 benign 0.02 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs934881220 1q32.1 1 206507720C> T null R W 40 40 missense 0.249 benign 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs917381880 1q32.1 1 206507727C> T null S L 42 42 missense 0.015 benign 0.04 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1174941122 1q32.1 1 206507730G> A null R H 43 43 missense 0.86 possibly damaging 0.03 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782327060 1q32.1 1 206507732C> T null L F 44 44 missense 0.003 benign 0.26 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1252996743 1q32.1 1 206507733T> C null L P 44 44 missense 0.015 benign 0.12 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,TOPMed,gnomAD rs577132400 1q32.1 1 206507736G> T null C F 45 45 2.0E-4 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393994 1q32.1 1 206507735T> C null C R 45 45 missense 0.102 benign 0.38 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393995 1q32.1 1 206507738G> C null V L 46 46 missense 0.0 benign 0.54 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs888516223 1q32.1 1 206507742C> T null P L 47 47 missense 0.011 benign 0.07 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs941467957 1q32.1 1 206507745C> A null A E 48 48 missense 0.028 benign 0.02 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782563542 1q32.1 1 206507744G> A null A T 48 48 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs941467957 1q32.1 1 206507745C> T null A V 48 48 missense 0.012 benign 0.05 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553393999 1q32.1 1 206507751T> A null L H 50 50 missense 0.001 benign 0.05 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1221612339 1q32.1 1 206507754C> T null S F 51 51 missense 0.023 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs181163167 1q32.1 1 206507760C> A null A E 53 53 0.007588 missense 0.356 benign 0.24 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs181163167 1q32.1 1 206507760C> T null A V 53 53 0.007588 missense 0.21 benign 0.02 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed rs782334742 1q32.1 1 206507762C> T null P S 54 54 missense 0.0 benign 0.24 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs559841670 1q32.1 1 206507765G> A null G R 55 55 7.99E-4 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs559841670 1q32.1 1 206507765G> C null G R 55 55 7.99E-4 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782119488 1q32.1 1 206507769C> G null A G 56 56 missense 0.005 benign 0.04 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394008 1q32.1 1 206507771C> T null R C 57 57 missense 0.039 benign 0.04 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394009 1q32.1 1 206507772G> A null R H 57 57 missense 0.0 benign 0.78 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs574913315 1q32.1 1 206507774G> A null E K 58 58 0.004792 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782024454 1q32.1 1 206507780C> G null R G 60 60 missense 0.585 possibly damaging 0.03 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782024454 1q32.1 1 206507780C> A null R S 60 60 missense 0.585 possibly damaging 0.03 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1161874928 1q32.1 1 206507783A> G null S G 61 61 missense 0.0 benign 0.65 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1006706460 1q32.1 1 206507786G> T null A S 62 62 missense 0.001 benign 0.19 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1006706460 1q32.1 1 206507786G> A null A T 62 62 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs967762093 1q32.1 1 206507790G> A null R Q 63 63 missense 0.141 benign 0.21 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1022123030 1q32.1 1 206507789C> T null R W 63 63 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1201672798 1q32.1 1 206507793G> A null R K 64 64 missense 0.011 benign 0.2 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394014 1q32.1 1 206507802G> A null R Q 67 67 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs561918883 1q32.1 1 206507804G> T null G W 68 68 9.98E-4 missense 0.874 possibly damaging 0.0 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs781843602 1q32.1 1 206507808A> T null N I 69 69 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1217742773 1q32.1 1 206507813G> A null E K 71 71 missense 0.003 benign 0.15 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs142795603 1q32.1 1 206507816C> T null P S 72 72 0.00599 missense 0.006 benign 0.16 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1305805960 1q32.1 1 206507820C> T null P L 73 73 missense 0.003 benign 0.07 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394029 1q32.1 1 206507819C> A null P T 73 73 missense 0.0 benign 0.39 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394032 1q32.1 1 206507825C> G null R G 75 75 missense 0.0 benign 0.4 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1228541045 1q32.1 1 206507826G> A null R Q 75 75 missense 0.144 benign 0.04 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs960422165 1q32.1 1 206507834C> T null R * 78 78 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs960422165 1q32.1 1 206507834C> G null R G 78 78 missense 0.756 possibly damaging 0.1 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782795686 1q32.1 1 206507837C> T null P S 79 79 missense 0.011 benign 0.14 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs781898198 1q32.1 1 206507840G> A null A T 80 80 missense 0.068 benign 0.1 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782542315 1q32.1 1 206507843C> T null R C 81 81 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782542315 1q32.1 1 206507843C> G null R G 81 81 missense 0.756 possibly damaging 0.03 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,gnomAD rs550837779 1q32.1 1 206507844G> T null R L 81 81 3.99E-4 missense 0.812 possibly damaging 0.23 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,TOPMed,gnomAD rs570368124 1q32.1 1 206507847C> G null P R 82 82 2.0E-4 missense 0.501 possibly damaging 0.35 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1425836417 1q32.1 1 206507853G> T null R L 84 84 missense 0.812 possibly damaging 0.07 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394040 1q32.1 1 206507852C> T null R W 84 84 missense 0.948 probably damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1383454282 1q32.1 1 206507858G> A null G S 86 86 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs57865548 1q32.1 1 206507861C> G null L V 87 87 missense 0.017 benign 0.24 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs781788863 1q32.1 1 206507865A> T null Q L 88 88 missense 0.546 possibly damaging 0.3 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs532720302 1q32.1 1 206507869G> C null Q H 89 89 0.001198 missense 0.367 benign 0.22 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs933991594 1q32.1 1 206507877G> C null R P 92 92 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1259940272 1q32.1 1 206507885C> T null P S 95 95 missense 0.067 benign 0.22 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394056 1q32.1 1 206507891G> A null A T 97 97 missense 0.023 benign 0.33 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1361242732 1q32.1 1 206507894C> T null P S 98 98 missense 0.023 benign 0.22 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC rs782375171 1q32.1 1 206507898G> A null R Q 99 99 missense 0.899 possibly damaging 0.02 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs889707187 1q32.1 1 206507900C> G null P A 100 100 missense 0.037 benign 0.39 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs1007251864 1q32.1 1 206507901C> T null P L 100 100 missense 0.009 benign 0.48 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs889707187 1q32.1 1 206507900C> T null P S 100 100 missense 0.005 benign 0.11 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782694757 1q32.1 1 206507903C> T null R C 101 101 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782694757 1q32.1 1 206507903C> G null R G 101 101 missense 0.756 possibly damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394068 1q32.1 1 206507910T> G null V G 103 103 missense 0.221 benign 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782281850 1q32.1 1 206507909G> A null V M 103 103 missense 0.806 possibly damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394070 1q32.1 1 206507912C> G null R G 104 104 missense 0.132 benign 0.11 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1361678222 1q32.1 1 206507913G> T null R L 104 104 missense 0.132 benign 0.35 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394070 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206507912C> T null R W 104 104 missense 0.646 possibly damaging 0.16 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1294550945 1q32.1 1 206507916G> A null S N 105 105 missense 0.077 benign 0.02 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394074 1q32.1 1 206507918A> G null I V 106 106 missense 0.015 benign 0.13 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394075 1q32.1 1 206507922T> G null F C 107 107 missense 0.737 possibly damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1459609445 1q32.1 1 206507924G> T null E * 108 108 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394078 1q32.1 1 206507926G> T null E D 108 108 missense 0.333 benign 0.24 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394080 1q32.1 1 206507927C> T null Q * 109 109 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs903699582 1q32.1 1 206507934A> C null Q P 111 111 missense 0.085 benign 0.13 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1163205275 1q32.1 1 206507938T> A null D E 112 112 missense 0.105 benign 0.04 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes rs546298221 1q32.1 1 206507940C> T null P L 113 113 2.0E-4 missense 0.007 benign 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1430445939 1q32.1 1 206507939C> T null P S 113 113 missense 0.637 possibly damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1392110046 1q32.1 1 206507942A> G null R G 114 114 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782332774 1q32.1 1 206507946T> G null V G 115 115 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394093 1q32.1 1 206507952C> T null A V 117 117 missense 0.431 benign 0.07 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394094 1q32.1 1 206507957C> T null R * 119 119 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs781924171 1q32.1 1 206507961G> A null G D 120 120 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs1030721805 1q32.1 1 206507973G> C null C S 124 124 missense 0.0 benign 0.88 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394097 1q32.1 1 206507975T> C null F L 125 125 missense 0.007 benign 0.04 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782004015 1q32.1 1 206507979C> A null A D 126 126 missense 0.068 benign 0.44 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs782347381 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206507978G> A null A T 126 126 missense 0.048 benign 0.42 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs1553394098 1q32.1 1 206507981G> T null E * 127 127 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs1013236058 1q32.1 1 206507983G> C null E D 127 127 missense 0.0 benign 0.25 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782159442 1q32.1 1 206507982A> G null E G 127 127 missense 0.0 benign 0.08 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782782706 1q32.1 1 206507985T> A null L * 128 128 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394101 1q32.1 1 206507987G> A null V M 129 129 missense 0.291 benign 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782046050 1q32.1 1 206507993C> G null P A 131 131 missense 0.0 benign 0.52 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1252611736 1q32.1 1 206507994C> T null P L 131 131 missense 0.0 benign 0.69 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1225867096 1q32.1 1 206507997G> A null G D 132 132 missense 0.0 benign 0.56 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782739938 1q32.1 1 206507999G> A null G S 133 133 missense 0.003 benign 0.35 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs781816978 1q32.1 1 206508003C> T null P L 134 134 missense 0.011 benign 0.26 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs980359268 1q32.1 1 206508010G> A null W * 136 136 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1344063691 1q32.1 1 206508011T> C null C R 137 137 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs781906338 1q32.1 1 206508020T> C null C R 140 140 missense 0.559 possibly damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs777728322 1q32.1 1 206508023G> A null G R 141 141 missense 0.056 benign 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs1553394116 1q32.1 1 206508026C> T null R * 142 142 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1398712023 1q32.1 1 206508027G> T null R L 142 142 missense 0.159 benign 0.22 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1398712023 1q32.1 1 206508027G> C null R P 142 142 missense 0.539 possibly damaging 0.09 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394119 1q32.1 1 206508036T> A null L Q 145 145 missense 0.007 benign 0.17 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394124 1q32.1 1 206508038C> G null R G 146 146 missense 0.284 benign 0.02 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1372380106 1q32.1 1 206508039G> C null R P 146 146 missense 0.651 possibly damaging 0.02 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1372380106 1q32.1 1 206508039G> A null R Q 146 146 missense 0.011 benign 0.34 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782183659 1q32.1 1 206508045C> A null A E 148 148 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78394637 1q32.1 1 206508050C> T null R C 150 150 0.02256 missense 0.684 possibly damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782603574 1q32.1 1 206508051G> A null R H 150 150 missense 0.521 possibly damaging 0.02 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78394637 1q32.1 1 206508050C> A null R S 150 150 0.02256 missense 0.01 benign 0.09 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394128 1q32.1 1 206508056A> G null T A 152 152 missense 0.0 benign 1.0 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394130 1q32.1 1 206508057C> G null T S 152 152 missense 0.012 benign 0.38 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553394132 1q32.1 1 206508059A> T null N Y 153 153 missense 0.501 possibly damaging 0.09 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs781984025 1q32.1 1 206538175G> A null C Y 154 154 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1212423666 1q32.1 1 206538186T> G null C G 158 158 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1310527980 1q32.1 1 206538195G> T null E * 161 161 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs782799384 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q32.1 1 206538201C> T null R C 163 163 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs781811232 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q32.1 1 206538202G> A null R H 163 163 missense 0.943 probably damaging 0.06 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs781811232 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206538202G> T null R L 163 163 missense 0.859 possibly damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553398916 1q32.1 1 206538205G> T null S I 164 164 missense 0.133 benign 0.16 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782762921 1q32.1 1 206538206C> A null S R 164 164 missense 0.062 benign 0.61 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782762921 1q32.1 1 206538206C> G null S R 164 164 missense 0.062 benign 0.61 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs1012028034 1q32.1 1 206538215G> C null Q H 167 167 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553398921 1q32.1 1 206538220A> T null D V 169 169 missense 0.859 possibly damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553398926 1q32.1 1 206538230G> T null Q H 172 172 missense 0.003 benign 0.16 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1027312389 1q32.1 1 206538236G> C null E D 174 174 missense 0.0 benign 0.71 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs781821022 1q32.1 1 206538237G> T null G C 175 175 missense 0.557 possibly damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs781821022 1q32.1 1 206538237G> A null G S 175 175 missense 0.009 benign 0.36 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1290113831 1q32.1 1 206538244C> T null S F 177 177 missense 0.001 benign 0.43 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1290113831 1q32.1 1 206538244C> A null S Y 177 177 missense 0.043 benign 0.57 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs782638829 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206538247G> A null R Q 178 178 missense 0.0 benign 0.57 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782524239 1q32.1 1 206538246C> T null R W 178 178 missense 0.0 benign 0.04 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs369222315 1q32.1 1 206538261C> T null P S 183 183 missense 0.051 benign 0.17 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782448998 1q32.1 1 206538271C> T null T I 186 186 missense 0.003 benign 0.2 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782448998 1q32.1 1 206538271C> A null T N 186 186 missense 0.328 benign 0.47 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782332110 1q32.1 1 206538280T> C null V A 189 189 missense 0.0 benign 0.81 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148860285 1q32.1 1 206538279G> A null V M 189 189 0.002796 missense 0.015 benign 0.15 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs139992469 1q32.1 1 206538283C> T null T I 190 190 missense 0.0 benign 0.11 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782236204 1q32.1 1 206538282A> C null T P 190 190 missense 0.0 benign 0.19 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1157501963 1q32.1 1 206538291C> G null Q E 193 193 missense 0.0 benign 0.35 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782072478 1q32.1 1 206538292A> T null Q L 193 193 missense 0.037 benign 0.07 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782576124 1q32.1 1 206583275T> C null C R 196 196 missense 0.075 benign 0.52 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782222502 1q32.1 1 206583276G> A null C Y 196 196 missense 0.272 benign 0.07 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553406753 1q32.1 1 206583278A> G null K E 197 197 missense 0.437 benign 0.58 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1331153170 1q32.1 1 206583285T> C null V A 199 199 missense 0.0 benign 0.6 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs545147786 1q32.1 1 206583287G> C null E Q 200 200 5.99E-4 missense 0.651 possibly damaging 0.12 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553406765 1q32.1 1 206583296C> T null Q * 203 203 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs144335994 1q32.1 1 206583299C> T null R C 204 204 missense 0.0 benign 0.11 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782012174 1q32.1 1 206583300G> A null R H 204 204 missense 0.0 benign 0.3 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782190148 1q32.1 1 206583303C> T null P L 205 205 missense 0.487 possibly damaging 0.14 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs202049293 1q32.1 1 206583306C> T null P L 206 206 missense 0.997 probably damaging 0.85 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553406782 1q32.1 1 206583315A> G null Q R 209 209 missense 0.036 benign 0.16 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553406784 1q32.1 1 206583317G> A null E K 210 210 missense 0.874 possibly damaging 0.03 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782785296 1q32.1 1 206583335G> C null D H 216 216 missense 0.393 benign 0.02 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782785296 1q32.1 1 206583335G> A null D N 216 216 missense 0.054 benign 0.08 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782797227 1q32.1 1 206583348C> T null T M 220 220 missense 0.475 possibly damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs148841211 1q32.1 1 206583350C> T null R * 221 221 stop gained 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs200076913 1q32.1 1 206583351G> A null R Q 221 221 missense 0.01 benign 1.0 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs199649479 1q32.1 1 206584396G> A null G S 234 234 3.99E-4 missense 0.978 probably damaging 0.02 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782332000 1q32.1 1 206584399A> G null T A 235 235 missense 0.055 benign 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782573550 1q32.1 1 206584400C> T null T I 235 235 missense 0.399 benign 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782573550 1q32.1 1 206584400C> A null T N 235 235 missense 0.255 benign 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782573550 1q32.1 1 206584400C> G null T S 235 235 missense 0.007 benign 1.0 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407042 1q32.1 1 206584405A> G null T A 237 237 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407044 1q32.1 1 206584406C> T null T M 237 237 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782389172 1q32.1 1 206584409G> A null G D 238 238 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407049 1q32.1 1 206584418A> C null K T 241 241 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407052 1q32.1 1 206584420G> C null V L 242 242 missense 0.32 benign 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407057 1q32.1 1 206584424A> G null H R 243 243 missense 0.991 probably damaging 0.07 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150163860 1q32.1 1 206584436G> T null R L 247 247 7.99E-4 missense 0.906 possibly damaging 0.42 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150163860 1q32.1 1 206584436G> A null R Q 247 247 7.99E-4 missense 0.798 possibly damaging 0.15 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369854759 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206584435C> T null R W 247 247 missense 0.976 probably damaging 0.05 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs545894272 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206584439G> A null R Q 248 248 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407065 1q32.1 1 206584438C> T null R W 248 248 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407069 1q32.1 1 206584444G> T null V L 250 250 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201563198 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206584448C> T null T M 251 251 3.99E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782546661 1q32.1 1 206584454C> T null P L 253 253 missense 0.13 benign 0.05 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs910307989 1q32.1 1 206584457C> G null A G 254 254 missense 0.82 possibly damaging 0.13 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782470099 1q32.1 1 206584466G> C null R P 257 257 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782470099 1q32.1 1 206584466G> A null R Q 257 257 missense 0.846 possibly damaging 0.04 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782709734 1q32.1 1 206584465C> T null R W 257 257 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs539554161 1q32.1 1 206584475C> T null S F 260 260 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407088 1q32.1 1 206584474T> C null S P 260 260 missense 0.914 probably damaging 0.02 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782647521 1q32.1 1 206584479C> G null I M 261 261 missense 0.862 possibly damaging 0.02 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782553437 1q32.1 1 206584491C> G null I M 265 265 missense 0.753 possibly damaging 0.11 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782667123 1q32.1 1 206584495G> C null E Q 267 267 missense 0.398 benign 0.17 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407102 1q32.1 1 206584496A> T null E V 267 267 missense 0.601 possibly damaging 0.08 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782184864 1q32.1 1 206584503C> G null N K 269 269 missense 0.156 benign 0.21 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782218272 1q32.1 1 206584508C> T null A V 271 271 missense 0.912 probably damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1046688940 1q32.1 1 206584514C> T null T I 273 273 missense 0.006 benign 0.25 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149067883 1q32.1 1 206584517C> A null T K 274 274 0.002196 missense 0.992 probably damaging 0.1 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149067883 1q32.1 1 206584517C> T null T M 274 274 0.002196 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs201417666 1q32.1 1 206584521C> G null D E 275 275 missense 0.191 benign 0.32 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs201417666 1q32.1 1 206584521C> A null D E 275 275 missense 0.191 benign 0.32 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407114 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206584519G> A null D N 275 275 missense 0.285 benign 0.04 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1414337712 1q32.1 1 206584522A> C null K Q 276 276 missense 0.979 probably damaging 0.05 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs900661125 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q32.1 1 206584526G> A null R Q 277 277 missense 0.313 benign 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4845112 1q32.1 1 206584525C> T null R W 277 277 0.1076 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs932181365 1q32.1 1 206584549G> A null D N 285 285 missense 0.651 possibly damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407134 1q32.1 1 206584558A> C null K Q 288 288 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC rs782500219 1q32.1 1 206584576A> G null S G 294 294 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407144 1q32.1 1 206584580C> A null T N 295 295 missense 0.343 benign 0.48 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782806231 1q32.1 1 206584586C> T null T I 297 297 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782455588 1q32.1 1 206584588G> A null V I 298 298 missense 0.874 possibly damaging 0.03 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed,gnomAD rs1157845699 1q32.1 1 206584593T> G null S R 299 299 missense 0.202 benign 1.0 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ESP rs140118607 1q32.1 1 206584603C> G null Q E 303 303 missense 0.299 benign 0.53 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782557894 1q32.1 1 206584604A> C null Q P 303 303 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782662751 1q32.1 1 206584613T> A null L H 306 306 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782249472 1q32.1 1 206584617G> C null K N 307 307 missense 0.984 probably damaging 0.2 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407164 1q32.1 1 206584616A> G null K R 307 307 missense 0.525 possibly damaging 0.19 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1185347490 1q32.1 1 206584624A> G null M V 310 310 missense 0.82 possibly damaging 0.02 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs147291212 1q32.1 1 206584644G> C null Q H 316 316 missense 0.005 benign 0.18 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC rs200663011 1q32.1 1 206584646A> G null K R 317 317 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782205958 1q32.1 1 206584652C> T null A V 319 319 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs1054565713 1q32.1 1 206584659T> G null F L 321 321 missense 0.867 possibly damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782316266 1q32.1 1 206584660A> G null K E 322 322 missense 0.898 possibly damaging 0.95 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs570039354 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206584664G> A null R Q 323 323 2.0E-4 missense 0.005 benign 0.35 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,gnomAD rs550196205 1q32.1 1 206584663C> T null R W 323 323 2.0E-4 missense 0.659 possibly damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407184 1q32.1 1 206584667T> C null I T 324 324 missense 0.003 benign 1.0 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407191 1q32.1 1 206584670A> G null H R 325 325 missense 0.003 benign 0.21 tolerated 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407194 1q32.1 1 206584674G> C null K N 326 326 missense 0.129 benign 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs144913020 1q32.1 1 206584678G> A null G R 328 328 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 Ensembl rs1558524714 1q32.1 1 206584682A> G null Q R 329 329 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407207 1q32.1 1 206584688G> A null R K 331 331 missense 0.042 benign 0.34 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs370898662 1q32.1 1 206584695G> C null K N 333 333 missense 0.007 benign 0.05 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ESP,ExAC,TOPMed,gnomAD rs373362781 1q32.1 1 206584701A> C null E D 335 335 missense 0.0 benign 0.5 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407212 1q32.1 1 206584699G> A null E K 335 335 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs1553407216 1q32.1 1 206584703C> T null P L 336 336 missense 0.005 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs781873516 1q32.1 1 206584702C> T null P S 336 336 missense 0.009 benign 0.18 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs781873516 1q32.1 1 206584702C> A null P T 336 336 missense 0.144 benign 0.02 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782515448 1q32.1 1 206584708C> A null Q K 338 338 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782685601 1q32.1 1 206584712C> T null T I 339 339 missense 0.018 benign 0.01 deleterious - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs781892782 1q32.1 1 206584714G> A null V I 340 340 missense 0.0 benign 0.46 tolerated - low confidence 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 gnomAD rs782728001 1q32.1 1 206584733C> T null S F 346 346 missense 0.001 benign 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,gnomAD rs782460622 1q32.1 1 206584735A> C null K Q 347 347 missense 0.007 benign 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 TOPMed rs1423861260 1q32.1 1 206584742C> T null T I 349 349 missense 0.11 benign 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs4418597 1q32.1 1 206584745A> T null H L 350 350 0.2726 missense 0.0 unknown 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 1000Genomes,ExAC,TOPMed,gnomAD rs4418597 1q32.1 1 206584745A> C null H P 350 350 0.2726 missense 0.0 unknown 0 A0A075B763 RASSF5 Ras association domain-containing protein 5 ExAC,TOPMed,gnomAD rs782235473 1q32.1 1 206584744C> T null H Y 350 350 missense 0.0 unknown 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1436331390 1q21.1 1 146960151T> G null V G 3 3 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1179391165 1q21.1 1 146960150G> T null V L 3 3 missense 0.929 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1237777582 1q21.1 1 146960157C> T null A V 5 5 missense 0.981 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1459094829 1q21.1 1 146960159G> A null G S 6 6 missense 0.572 possibly damaging 0.13 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1271840563 1q21.1 1 146960166G> T null W L 8 8 missense 0.001 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1228309930 1q21.1 1 146960168T> C null S P 9 9 missense 0.973 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1286362225 1q21.1 1 146960174G> A null E K 11 11 missense 0.088 benign 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1286362225 1q21.1 1 146960174G> C null E Q 11 11 missense 0.664 possibly damaging 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1309472867 1q21.1 1 146960180G> A null A T 13 13 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1448365489 1q21.1 1 146960190A> G null N S 16 16 missense 0.979 probably damaging 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1391582831 1q21.1 1 146960192A> C null I L 17 17 missense 0.271 benign 0.3 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1324620610 1q21.1 1 146960195C> G null L V 18 18 missense 0.151 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1405952233 1q21.1 1 146960199A> C null E A 19 19 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1156645728 1q21.1 1 146960203C> G null I M 20 20 missense 0.03 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1392755753 1q21.1 1 146960202T> G null I S 20 20 missense 0.392 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1441762512 1q21.1 1 146960209G> T null E D 22 22 missense 0.979 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1379922932 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146960207G> A null E K 22 22 missense 0.979 probably damaging 0.27 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1379922932 1q21.1 1 146960207G> C null E Q 22 22 missense 0.986 probably damaging 0.64 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1251289405 1q21.1 1 146960211A> C null K T 23 23 missense 0.006 benign 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1292583708 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146960216C> T null R C 25 25 missense 0.86 possibly damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1203783396 1q21.1 1 146960217G> A null R H 25 25 missense 0.01 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1203783396 1q21.1 1 146960217G> C null R P 25 25 missense 0.752 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1286308373 1q21.1 1 146960220C> A null P H 26 26 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1286308373 1q21.1 1 146960220C> T null P L 26 26 missense 0.996 probably damaging 0.42 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1436547406 1q21.1 1 146960228G> T null A S 29 29 missense 0.091 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1316087419 1q21.1 1 146960233G> T null E D 30 30 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1399908914 1q21.1 1 146960236C> A null N K 31 31 missense 0.0 benign 0.73 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1399908914 1q21.1 1 146960236C> G null N K 31 31 missense 0.0 benign 0.73 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1160230916 1q21.1 1 146960240C> T null Q * 33 33 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1421792760 1q21.1 1 146960247T> G null F C 35 35 missense 0.738 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1190703305 1q21.1 1 146960249A> G null R G 36 36 missense 0.0 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1559519228 1q21.1 1 146960250G> T null R I 36 36 missense 0.006 benign 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1248964958 1q21.1 1 146960254C> G null N K 37 37 missense 0.129 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1478372122 1q21.1 1 146960253A> G null N S 37 37 missense 0.005 benign 0.34 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1219210863 1q21.1 1 146960265G> A null R K 41 41 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1345358545 1q21.1 1 146960267T> A null C S 42 42 missense 0.009 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1346435205 1q21.1 1 146960273C> G null L V 44 44 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1399397647 1q21.1 1 146960279C> T null Q * 46 46 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1341017281 1q21.1 1 146960280A> C null Q P 46 46 missense 0.559 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1357671495 1q21.1 1 146960288G> A null G S 49 49 missense 0.376 benign 0.37 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1415126225 1q21.1 1 146960295T> C null L P 51 51 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1477804815 1q21.1 1 146960303C> T null R * 54 54 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1264504261 1q21.1 1 146960304G> C null R P 54 54 missense 0.038 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1264504261 1q21.1 1 146960304G> A null R Q 54 54 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1484873085 1q21.1 1 146960306C> T null Q * 55 55 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1210457069 1q21.1 1 146960312A> T null K * 57 57 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1443782383 1q21.1 1 146960313A> T null K I 57 57 missense 0.639 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1273402077 1q21.1 1 146962163T> C null Y H 60 60 missense 0.987 probably damaging 0.34 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1273402077 1q21.1 1 146962163T> A null Y N 60 60 missense 0.987 probably damaging 0.56 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1343726720 1q21.1 1 146962166G> A null E K 61 61 missense 0.955 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1245224405 1q21.1 1 146962171G> C null E D 62 62 missense 0.955 probably damaging 0.16 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1312269685 1q21.1 1 146962169G> C null E Q 62 62 missense 0.97 probably damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1340926101 1q21.1 1 146962173G> C null C S 63 63 missense 0.946 probably damaging 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1389415789 1q21.1 1 146962175A> G null K E 64 64 missense 0.006 benign 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1307705390 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146962191T> G null F C 69 69 missense 0.471 possibly damaging 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1307705390 1q21.1 1 146962191T> C null F S 69 69 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1372553929 1q21.1 1 146962201G> C null R S 72 72 missense 0.089 benign 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1457846633 1q21.1 1 146962205G> C null E Q 74 74 missense 0.171 benign 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1369510588 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.1 1 146962208C> T null R * 75 75 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1190072973 1q21.1 1 146962209G> T null R L 75 75 missense 0.0 benign 0.71 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1190072973 1q21.1 1 146962209G> A null R Q 75 75 missense 0.0 benign 0.31 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1251505413 1q21.1 1 146962211C> G null Q E 76 76 missense 0.771 possibly damaging 0.18 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1483822969 1q21.1 1 146962223G> A null E K 80 80 missense 0.06 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1208690800 1q21.1 1 146962228G> C null K N 81 81 missense 0.003 benign 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1236756367 1q21.1 1 146962237G> C null E D 84 84 missense 0.31 benign 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1267202673 1q21.1 1 146962236A> T null E V 84 84 missense 0.727 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1288735086 1q21.1 1 146962246A> C null K N 87 87 missense 0.06 benign 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1352488445 1q21.1 1 146962247C> G null Q E 88 88 missense 0.053 benign 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1386234018 1q21.1 1 146962258G> C null E D 91 91 missense 0.717 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1391514594 1q21.1 1 146962263G> A null R K 93 93 missense 0.081 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1391514594 1q21.1 1 146962263G> C null R T 93 93 missense 0.217 benign 0.13 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1292272538 1q21.1 1 146963096C> G null Q E 94 94 missense 0.347 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1292272538 1q21.1 1 146963096C> A null Q K 94 94 missense 0.028 benign 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1471370487 1q21.1 1 146963100A> G null Y C 95 95 missense 0.488 possibly damaging 0.24 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1166713282 1q21.1 1 146963099T> C null Y H 95 95 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1362708702 1q21.1 1 146963102A> G null K E 96 96 missense 0.64 possibly damaging 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1192931344 1q21.1 1 146963111G> T null V F 99 99 missense 0.061 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1468794890 1q21.1 1 146963114C> T null H Y 100 100 missense 0.642 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1274754291 1q21.1 1 146963125A> T null E D 103 103 missense 0.789 possibly damaging 0.27 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1215793956 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.1 1 146963126C> T null R * 104 104 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1348762560 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146963127G> A null R Q 104 104 missense 0.742 possibly damaging 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1260246545 1q21.1 1 146963135A> G null T A 107 107 missense 0.028 benign 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1260246545 1q21.1 1 146963135A> C null T P 107 107 missense 0.791 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1337582590 1q21.1 1 146963138C> A null Q K 108 108 missense 0.216 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1301967485 1q21.1 1 146963152G> C null K N 112 112 missense 0.794 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1372193724 1q21.1 1 146963157G> A null R Q 114 114 missense 0.552 possibly damaging 0.33 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1440799195 1q21.1 1 146963156C> T null R W 114 114 missense 0.007 benign 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1455345088 1q21.1 1 146963163G> A null G E 116 116 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1328261193 1q21.1 1 146963162G> T null G W 116 116 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1158764205 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146963169A> T null D V 118 118 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1383732117 1q21.1 1 146963168G> T null D Y 118 118 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1375417781 1q21.1 1 146963175C> G null S C 120 120 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1192948989 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146963177C> T null R C 121 121 missense 0.931 probably damaging 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1454609039 1q21.1 1 146963178G> A null R H 121 121 missense 0.956 probably damaging 0.27 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1454609039 1q21.1 1 146963178G> C null R P 121 121 missense 0.921 probably damaging 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1186390403 1q21.1 1 146963181C> A null S * 122 122 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1205940630 1q21.1 1 146963188T> G null N K 124 124 missense 0.061 benign 0.21 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1261352321 1q21.1 1 146963187A> G null N S 124 124 missense 0.046 benign 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1446194931 1q21.1 1 146963186A> T null N Y 124 124 missense 0.001 benign 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1353003886 1q21.1 1 146963189G> T null E * 125 125 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1278209288 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146963195C> T null L F 127 127 missense 0.929 probably damaging 0.15 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1349175449 1q21.1 1 146963201G> A null A T 129 129 missense 0.877 possibly damaging 0.21 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1306113290 1q21.1 1 146963204C> T null L F 130 130 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1326178804 1q21.1 1 146963210A> T null T S 132 132 missense 0.187 benign 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1383500040 1q21.1 1 146963214C> T null P L 133 133 missense 0.01 benign 0.21 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1435293060 1q21.1 1 146963223C> T null P L 136 136 missense 0.946 probably damaging 0.13 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1166610175 1q21.1 1 146963238G> T null G V 141 141 missense 0.191 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1475000768 1q21.1 1 146963240C> A null Q K 142 142 missense 0.216 benign 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1373414407 1q21.1 1 146963245C> A null D E 143 143 missense 0.824 possibly damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1194180626 1q21.1 1 146963262C> G null A G 149 149 missense 0.877 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1448885704 1q21.1 1 146963266G> T null E D 150 150 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1213317297 1q21.1 1 146963272T> G null C W 152 152 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1283134518 1q21.1 1 146963271G> A null C Y 152 152 missense 0.992 probably damaging 0.43 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1229196601 1q21.1 1 146963279G> C null A P 155 155 missense 0.996 probably damaging 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1353128692 1q21.1 1 146963282C> G null Q E 156 156 missense 0.424 benign 0.89 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1414914912 1q21.1 1 146963285C> G null Q E 157 157 missense 0.009 benign 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1376742850 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146963287A> C null Q H 157 157 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1326842208 1q21.1 1 146963289T> C null L P 158 158 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1476523764 1q21.1 1 146963295A> G null Q R 160 160 missense 0.546 possibly damaging 0.89 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1416022455 1q21.1 1 146963299G> C null K N 161 161 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1396447617 1q21.1 1 146964360A> G null N S 166 166 missense 0.187 benign 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885236 1q21.1 1 146964364T> A null D E 167 167 missense 0.825 possibly damaging 0.18 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1559520652 1q21.1 1 146964381A> G null D G 173 173 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1236307442 1q21.1 1 146964384T> C null V A 174 174 missense 0.647 possibly damaging 0.57 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885237 1q21.1 1 146964383G> A null V I 174 174 missense 0.717 possibly damaging 0.19 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885238 1q21.1 1 146964396A> C null E A 178 178 missense 0.789 possibly damaging 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1443368390 1q21.1 1 146964395G> C null E Q 178 178 missense 0.851 possibly damaging 0.13 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1316973239 1q21.1 1 146964399A> C null D A 179 179 missense 0.0 benign 0.9 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1196403763 1q21.1 1 146964398G> A null D N 179 179 missense 0.062 benign 0.4 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1220009079 1q21.1 1 146964405A> C null K T 181 181 missense 0.986 probably damaging 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885239 1q21.1 1 146964408T> A null V E 182 182 missense 0.905 possibly damaging 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885239 1q21.1 1 146964408T> G null V G 182 182 missense 0.852 possibly damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885242 1q21.1 1 146964417C> A null S * 185 185 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885246 1q21.1 1 146964422G> T null A S 187 187 missense 0.063 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1399895761 1q21.1 1 146964425C> T null P S 188 188 missense 0.994 probably damaging 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1332297575 1q21.1 1 146964428A> G null R G 189 189 missense 0.974 probably damaging 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885364 1q21.1 1 146964897G> A null V M 191 191 missense 0.066 benign 0.16 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1244656574 1q21.1 1 146964902G> C null Q H 192 192 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1196306018 1q21.1 1 146964906G> C null A P 194 194 missense 0.698 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1196306018 1q21.1 1 146964906G> A null A T 194 194 missense 0.019 benign 0.15 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1273036024 1q21.1 1 146964909G> T null E * 195 195 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1197010108 1q21.1 1 146964910A> T null E V 195 195 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1354212589 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.1 1 146964912G> T null E * 196 196 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1559520908 1q21.1 1 146964924C> G null P A 200 200 missense 0.009 benign 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1246510921 1q21.1 1 146964925C> T null P L 200 200 missense 0.23 benign 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1317429897 1q21.1 1 146964934C> T null S L 203 203 missense 0.805 possibly damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1444788883 1q21.1 1 146964936C> G null L V 204 204 missense 0.09 benign 0.16 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885381 1q21.1 1 146964939G> A null E K 205 205 missense 0.789 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1411705486 1q21.1 1 146964945T> C null C R 207 207 missense 0.904 possibly damaging 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885386 1q21.1 1 146964946G> A null C Y 207 207 missense 0.862 possibly damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1163491573 1q21.1 1 146964948G> A null A T 208 208 missense 0.877 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1425704702 1q21.1 1 146964951A> G null I V 209 209 missense 0.028 benign 0.87 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1176416398 1q21.1 1 146964955C> T null T I 210 210 missense 0.929 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885392 1q21.1 1 146964958G> C null C S 211 211 missense 0.974 probably damaging 0.29 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1233066763 1q21.1 1 146964959T> G null C W 211 211 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1183440581 1q21.1 1 146964961C> T null S L 212 212 missense 0.061 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885395 1q21.1 1 146964964A> G null N S 213 213 missense 0.64 possibly damaging 0.24 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885398 1q21.1 1 146964967G> T null S I 214 214 missense 0.57 possibly damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885398 1q21.1 1 146964967G> A null S N 214 214 missense 0.647 possibly damaging 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885402 1q21.1 1 146964970A> G null H R 215 215 missense 0.061 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885403 1q21.1 1 146964972G> A null G S 216 216 missense 0.788 possibly damaging 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1372926926 1q21.1 1 146964976C> A null P H 217 217 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1239134875 1q21.1 1 146964975C> T null P S 217 217 missense 0.492 possibly damaging 0.2 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885406 1q21.1 1 146964979G> T null C F 218 218 missense 0.607 possibly damaging 0.6 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1444527772 1q21.1 1 146964980T> G null C W 218 218 missense 0.919 probably damaging 0.14 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1329357831 1q21.1 1 146964982A> T null D V 219 219 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885410 1q21.1 1 146964988T> A null I N 221 221 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885410 1q21.1 1 146964988T> G null I S 221 221 missense 0.006 benign 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885415 1q21.1 1 146964998C> A null H Q 224 224 missense 0.974 probably damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1408333087 1q21.1 1 146965000A> G null K R 225 225 missense 0.12 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885421 1q21.1 1 146965010A> C null K N 228 228 missense 0.006 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1476756773 1q21.1 1 146965012T> C null I T 229 229 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885424 1q21.1 1 146965028C> G null D E 234 234 missense 0.987 probably damaging 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885422 1q21.1 1 146965026G> A null D N 234 234 missense 0.991 probably damaging 0.2 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885422 1q21.1 1 146965026G> T null D Y 234 234 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1215718280 1q21.1 1 146965032G> C null V L 236 236 missense 0.949 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1225615456 1q21.1 1 146965041A> G null T A 239 239 missense 0.003 benign 0.57 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1225615456 1q21.1 1 146965041A> T null T S 239 239 missense 0.005 benign 0.19 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1405596466 1q21.1 1 146965045T> A null V E 240 240 missense 0.037 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885427 1q21.1 1 146965044G> C null V L 240 240 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1348005139 1q21.1 1 146965055C> A null D E 243 243 missense 0.98 probably damaging 0.4 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1296872454 1q21.1 1 146965057G> A null R K 244 244 missense 0.546 possibly damaging 0.25 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885430 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146965059A> G null K E 245 245 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1346088674 1q21.1 1 146965060A> T null K I 245 245 missense 0.015 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1319911996 1q21.1 1 146965063C> T null S F 246 246 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1559520969 1q21.1 1 146965065T> A null S T 247 247 missense 0.73 possibly damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1412349680 1q21.1 1 146965069A> G null H R 248 248 missense 0.443 benign 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1176579531 1q21.1 1 146965072A> G null D G 249 249 missense 0.647 possibly damaging 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885432 1q21.1 1 146965071G> A null D N 249 249 missense 0.794 possibly damaging 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885434 1q21.1 1 146965075A> G null E G 250 250 missense 0.003 benign 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1185800587 1q21.1 1 146965084A> T null D V 253 253 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885437 1q21.1 1 146965083G> T null D Y 253 253 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885438 1q21.1 1 146965089C> G null L V 255 255 missense 0.003 benign 0.43 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1243594313 1q21.1 1 146965092A> C null N H 256 256 missense 0.061 benign 0.3 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1440947979 1q21.1 1 146965098C> A null L I 258 258 missense 0.12 benign 0.35 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1181894304 1q21.1 1 146966464T> C null V A 260 260 missense 0.957 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885445 1q21.1 1 146965104G> C null V L 260 260 missense 0.889 possibly damaging 0.16 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1218755779 1q21.1 1 146966472C> G null P A 263 263 missense 0.065 benign 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1320538243 1q21.1 1 146966473C> T null P L 263 263 missense 0.631 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1235098492 1q21.1 1 146966476C> T null T I 264 264 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1326965107 1q21.1 1 146966482C> G null S C 266 266 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1287549637 1q21.1 1 146966492C> G null N K 269 269 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1287549637 1q21.1 1 146966492C> A null N K 269 269 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885656 1q21.1 1 146966493G> T null V F 270 270 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885656 1q21.1 1 146966493G> A null V I 270 270 missense 0.238 benign 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885656 1q21.1 1 146966493G> C null V L 270 270 missense 0.117 benign 0.15 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1158897080 1q21.1 1 146966514G> A null G S 277 277 missense 0.163 benign 0.23 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1419986669 1q21.1 1 146966521T> C null L S 279 279 missense 0.171 benign 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1419986669 1q21.1 1 146966521T> G null L W 279 279 missense 0.017 benign 0.34 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1189059229 1q21.1 1 146966524C> G null S C 280 280 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1487934400 1q21.1 1 146966526A> G null S G 281 281 missense 0.012 benign 0.21 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1253132706 1q21.1 1 146966528C> G null S R 281 281 missense 0.232 benign 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1463537553 1q21.1 1 146966529G> A null E K 282 282 missense 0.78 possibly damaging 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1463537553 1q21.1 1 146966529G> C null E Q 282 282 missense 0.927 probably damaging 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1298886602 1q21.1 1 146966538G> A null E K 285 285 missense 0.836 possibly damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885662 1q21.1 1 146966558C> G null I M 291 291 missense 0.135 benign 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1387104909 1q21.1 1 146966560A> G null N S 292 292 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1320412515 1q21.1 1 146966563A> G null E G 293 293 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1395302363 1q21.1 1 146966570G> T null L F 295 295 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885668 1q21.1 1 146966568T> G null L V 295 295 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1432293717 1q21.1 1 146966569T> G null L W 295 295 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1194973724 1q21.1 1 146966571C> T null R C 296 296 missense 0.03 benign 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885672 1q21.1 1 146966572G> A null R H 296 296 missense 0.03 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885672 1q21.1 1 146966572G> C null R P 296 296 missense 0.895 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1194973724 1q21.1 1 146966571C> A null R S 296 296 missense 0.627 possibly damaging 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1486795074 1q21.1 1 146966574C> T null P S 297 297 missense 0.321 benign 0.75 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1254086746 1q21.1 1 146966577C> T null Q * 298 298 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885675 1q21.1 1 146966581T> C null L P 299 299 missense 0.731 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1304365704 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146966591G> C null K N 302 302 missense 0.029 benign 0.93 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1236610767 1q21.1 1 146966592A> G null K E 303 303 missense 0.728 possibly damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1363070771 1q21.1 1 146966593A> C null K T 303 303 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1296926689 1q21.1 1 146966600G> C null Q H 305 305 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1387757672 1q21.1 1 146966616G> T null E * 311 311 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1375706217 1q21.1 1 146966618G> T null E D 311 311 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1465794465 1q21.1 1 146966617A> G null E G 311 311 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1387757672 1q21.1 1 146966616G> A null E K 311 311 missense 0.493 possibly damaging 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1175086033 1q21.1 1 146966620A> C null K T 312 312 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1389071783 1q21.1 1 146966624T> A null C * 313 313 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1447256521 1q21.1 1 146966622T> A null C S 313 313 missense 0.113 benign 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1193259833 1q21.1 1 146966628G> C null V L 315 315 missense 0.003 benign 0.19 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1430307600 1q21.1 1 146966631A> T null T S 316 316 missense 0.237 benign 0.56 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885683 1q21.1 1 146966637C> A null L M 318 318 missense 0.142 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885683 1q21.1 1 146966637C> G null L V 318 318 missense 0.005 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885684 1q21.1 1 146966640G> T null A S 319 319 missense 0.041 benign 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885684 1q21.1 1 146966640G> A null A T 319 319 missense 0.275 benign 0.91 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885689 1q21.1 1 146966643G> T null G C 320 320 missense 0.022 benign 0.29 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885689 1q21.1 1 146966643G> A null G S 320 320 missense 0.373 benign 0.34 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1328709781 1q21.1 1 146966647T> G null F C 321 321 missense 0.341 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1414587022 1q21.1 1 146966653C> A null A D 323 323 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1414587022 1q21.1 1 146966653C> T null A V 323 323 missense 0.316 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1559521589 1q21.1 1 146966666C> G null N K 327 327 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1315155851 1q21.1 1 146966667A> C null K Q 328 328 missense 0.897 possibly damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1427489896 1q21.1 1 146966670T> C null Y H 329 329 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1379223488 1q21.1 1 146968460G> A null C Y 334 334 missense 0.108 benign 0.32 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1463987597 1q21.1 1 146968463A> G null K R 335 335 missense 0.267 benign 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1399355248 1q21.1 1 146968471A> C null I L 338 338 missense 0.017 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1171039132 1q21.1 1 146968474A> T null K * 339 339 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1466346759 1q21.1 1 146968476A> C null K N 339 339 missense 0.439 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1374949291 1q21.1 1 146968477T> C null S P 340 340 missense 0.015 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885900 1q21.1 1 146968478C> A null S Y 340 340 missense 0.082 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1423366978 1q21.1 1 146968480A> G null M V 341 341 missense 0.007 benign 0.88 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553885906 1q21.1 1 146968496T> G null L R 346 346 missense 0.003 benign 0.32 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1237962401 1q21.1 1 146968499A> C null Q P 347 347 missense 0.921 probably damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1263275403 1q21.1 1 146968516C> T null L F 353 353 missense 0.723 possibly damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1263275403 1q21.1 1 146968516C> G null L V 353 353 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1375982104 1q21.1 1 146968533G> C null K N 358 358 missense 0.481 possibly damaging 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1388275711 1q21.1 1 146968537G> A null A T 360 360 missense 0.966 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1292056235 1q21.1 1 146968543G> T null E * 362 362 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1457585683 1q21.1 1 146968544A> G null E G 362 362 missense 0.583 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1359225500 1q21.1 1 146969398G> T null V F 370 370 missense 0.125 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1431387382 1q21.1 1 146969413C> T null R * 375 375 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1346751404 1q21.1 1 146969414G> A null R Q 375 375 missense 0.18 benign 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1334384091 1q21.1 1 146969416G> C null E Q 376 376 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1468452919 1q21.1 1 146969420T> C null L P 377 377 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1428815668 1q21.1 1 146969423C> T null T I 378 378 missense 0.155 benign 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1186448161 1q21.1 1 146969444G> A null R Q 385 385 missense 0.335 benign 0.35 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1417449021 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146969443C> T null R W 385 385 missense 0.277 benign 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1486444679 1q21.1 1 146969456A> T null D V 389 389 missense 0.66 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1202123455 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146969459C> T null A V 390 390 missense 0.482 possibly damaging 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1461122984 1q21.1 1 146969462C> T null S F 391 391 missense 0.32 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1263424353 1q21.1 1 146969464C> T null R C 392 392 missense 0.012 benign 0.22 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1234941500 1q21.1 1 146969465G> A null R H 392 392 missense 0.021 benign 0.46 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1234941500 1q21.1 1 146969465G> T null R L 392 392 missense 0.065 benign 0.5 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1215102299 1q21.1 1 146969467T> A null S T 393 393 missense 0.583 possibly damaging 0.29 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1363929863 1q21.1 1 146969471T> C null L S 394 394 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1312693423 1q21.1 1 146969488G> A null A T 400 400 missense 0.439 benign 0.21 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1451705102 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146969501C> T null P L 404 404 missense 0.012 benign 0.24 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1337710141 1q21.1 1 146969503G> T null D Y 405 405 missense 0.067 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1467712990 1q21.1 1 146969510C> T null P L 407 407 missense 0.066 benign 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1392614275 1q21.1 1 146969527C> T null Q * 413 413 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1244124738 1q21.1 1 146969542C> T null Q * 418 418 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1201830276 1q21.1 1 146969548G> A null A T 420 420 missense 0.983 probably damaging 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1479421575 1q21.1 1 146969554G> A null G R 422 422 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1479421575 1q21.1 1 146969554G> C null G R 422 422 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1204559349 1q21.1 1 146969555G> T null G V 422 422 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1312902478 1q21.1 1 146969559T> A null C * 423 423 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1245140018 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146969560A> G null R G 424 424 missense 0.92 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1314537192 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146969566G> A null A T 426 426 missense 0.163 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1371401089 1q21.1 1 146969574C> A null H Q 428 428 missense 0.003 benign 0.27 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1297791872 1q21.1 1 146969576T> C null L P 429 429 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1462604010 1q21.1 1 146969578G> T null V F 430 430 missense 0.047 benign 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1162292819 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q21.1 1 146969581C> T null Q * 431 431 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1424513214 1q21.1 1 146969582A> G null Q R 431 431 missense 0.113 benign 0.61 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1386263669 1q21.1 1 146969587C> T null L F 433 433 missense 0.877 possibly damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1189993486 1q21.1 1 146969590A> T null S C 434 434 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1416972401 1q21.1 1 146969591G> A null S N 434 434 missense 0.674 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1429595334 1q21.1 1 146976931A> G null N D 437 437 missense 0.03 benign 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1422151804 1q21.1 1 146976935A> T null D V 438 438 missense 0.105 benign 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1444346340 1q21.1 1 146976938A> G null N S 439 439 missense 0.061 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1205110637 1q21.1 1 146976941A> G null D G 440 440 missense 0.03 benign 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1243378654 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146976940G> A null D N 440 440 missense 0.146 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1250265812 1q21.1 1 146976944A> G null D G 441 441 missense 0.007 benign 0.13 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1456114061 1q21.1 1 146976943G> T null D Y 441 441 missense 0.381 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1309163753 1q21.1 1 146976946G> A null D N 442 442 missense 0.021 benign 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1287586932 1q21.1 1 146976950A> T null E V 443 443 missense 0.848 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1245015343 1q21.1 1 146976955G> C null V L 445 445 missense 0.431 benign 0.64 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1316064278 1q21.1 1 146976966G> T null E D 448 448 missense 0.562 possibly damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1383168889 1q21.1 1 146976964G> C null E Q 448 448 missense 0.177 benign 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1454777636 1q21.1 1 146976968T> C null V A 449 449 missense 0.009 benign 0.5 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1454777636 1q21.1 1 146976968T> A null V E 449 449 missense 0.009 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1454777636 1q21.1 1 146976968T> G null V G 449 449 missense 0.205 benign 0.3 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1462515894 1q21.1 1 146976971C> A null A D 450 450 missense 0.071 benign 0.32 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1356819989 1q21.1 1 146976978A> C null K N 452 452 missense 0.959 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1386241424 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146976989C> T null S L 456 456 missense 0.292 benign 0.19 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1386241424 1q21.1 1 146976989C> G null S W 456 456 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1437405497 1q21.1 1 146976994T> G null S A 458 458 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1249267800 1q21.1 1 146977000A> G null R G 460 460 missense 0.637 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1392406562 1q21.1 1 146977467G> T null E * 461 461 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1161321599 1q21.1 1 146977468A> C null E A 461 461 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1243320450 1q21.1 1 146977471T> C null M T 462 462 missense 0.452 possibly damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1443603863 1q21.1 1 146977470A> G null M V 462 462 missense 0.026 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1183129784 1q21.1 1 146977474A> G null Q R 463 463 missense 0.918 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1232251945 1q21.1 1 146977479G> A null A T 465 465 missense 0.779 possibly damaging 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1205123877 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146977480C> T null A V 465 465 missense 0.77 possibly damaging 0.27 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1289286802 1q21.1 1 146977503G> A null D N 473 473 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1244120059 1q21.1 1 146977514G> T null E D 476 476 missense 0.733 possibly damaging 0.25 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1313624119 1q21.1 1 146977515G> A null E K 477 477 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1230112813 1q21.1 1 146977519G> T null C F 478 478 missense 0.51 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1371258392 1q21.1 1 146977522C> A null A D 479 479 missense 0.545 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1298173927 1q21.1 1 146977528C> G null T S 481 481 missense 0.435 benign 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1410938425 1q21.1 1 146977531G> A null C Y 482 482 missense 0.006 benign 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1372843205 1q21.1 1 146977536A> G null N D 484 484 missense 0.939 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1301699973 1q21.1 1 146977540G> A null S N 485 485 missense 0.935 probably damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1301699973 1q21.1 1 146977540G> C null S T 485 485 missense 0.939 probably damaging 0.15 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1166403578 1q21.1 1 146977544T> A null H Q 486 486 missense 0.991 probably damaging 0.26 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1166403578 1q21.1 1 146977544T> G null H Q 486 486 missense 0.991 probably damaging 0.26 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1368693937 1q21.1 1 146977543A> G null H R 486 486 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1406603457 1q21.1 1 146977546G> T null G V 487 487 missense 0.795 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1177751707 1q21.1 1 146977548C> T null P S 488 488 missense 0.007 benign 0.3 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1483983337 1q21.1 1 146977552A> G null Y C 489 489 missense 0.02 benign 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1490435417 1q21.1 1 146977556C> G null D E 490 490 missense 0.268 benign 0.37 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1221468365 1q21.1 1 146977554G> T null D Y 490 490 missense 0.479 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1247253611 1q21.1 1 146977558C> T null S F 491 491 missense 0.568 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1315237300 1q21.1 1 146977566C> T null P S 494 494 missense 0.619 possibly damaging 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1315237300 1q21.1 1 146977566C> A null P T 494 494 missense 0.953 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1404737679 1q21.1 1 146977578A> G null T A 498 498 missense 0.734 possibly damaging 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1391894309 1q21.1 1 146977579C> A null T N 498 498 missense 0.32 benign 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1294997971 1q21.1 1 146977582A> G null K R 499 499 missense 0.493 possibly damaging 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1451137333 1q21.1 1 146977584A> C null I L 500 500 missense 0.396 benign 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1473265309 1q21.1 1 146977588C> T null T I 501 501 missense 0.924 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1159288485 1q21.1 1 146977587A> C null T P 501 501 missense 0.998 probably damaging 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1427129529 1q21.1 1 146977594A> C null E A 503 503 missense 0.888 possibly damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1269164957 1q21.1 1 146977609A> G null D G 508 508 missense 0.808 possibly damaging 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1480678926 1q21.1 1 146977608G> A null D N 508 508 missense 0.139 benign 0.13 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1211904425 1q21.1 1 146977614A> G null T A 510 510 missense 0.017 benign 0.69 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1211904425 1q21.1 1 146977614A> C null T P 510 510 missense 0.049 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1260318856 1q21.1 1 146977617C> T null L F 511 511 missense 0.828 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1209443711 1q21.1 1 146977620A> T null I F 512 512 missense 0.726 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1261880121 1q21.1 1 146977623G> A null G S 513 513 missense 0.122 benign 0.5 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1320739646 1q21.1 1 146977635C> G null H D 517 517 missense 0.155 benign 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1320739646 1q21.1 1 146977635C> T null H Y 517 517 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1403260761 1q21.1 1 146977638G> C null V L 518 518 missense 0.341 benign 0.67 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1175666460 1q21.1 1 146977644T> C null W R 520 520 missense 0.02 benign 0.86 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1379242961 1q21.1 1 146977653G> T null A S 523 523 missense 0.55 possibly damaging 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1379242961 1q21.1 1 146977653G> A null A T 523 523 missense 0.421 benign 0.28 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1427632315 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146977662A> G null I V 526 526 missense 0.551 possibly damaging 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1247660134 1q21.1 1 146977665A> T null I F 527 527 missense 0.091 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1247660134 1q21.1 1 146977665A> C null I L 527 527 missense 0.025 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1466366061 1q21.1 1 146977666T> C null I T 527 527 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1203644722 1q21.1 1 146977668C> T null P S 528 528 missense 0.327 benign 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1336784242 1q21.1 1 146978967A> G null S G 532 532 missense 0.712 possibly damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1286230098 1q21.1 1 146978969T> A null S R 532 532 missense 0.236 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1329761303 1q21.1 1 146978982G> C null E Q 537 537 missense 0.962 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1393252458 1q21.1 1 146978987A> C null E D 538 538 missense 0.921 probably damaging 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1388658368 1q21.1 1 146978995G> A null G E 541 541 missense 0.839 possibly damaging 0.35 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1462434831 1q21.1 1 146979004C> T null S F 544 544 missense 0.2 benign 0.72 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1420604323 1q21.1 1 146979006C> G null P A 545 545 missense 0.771 possibly damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1157435768 1q21.1 1 146979009A> G null R G 546 546 missense 0.835 possibly damaging 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1482986066 1q21.1 1 146982928G> T null R S 546 546 missense 0.316 benign 0.26 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1238078417 1q21.1 1 146982936A> T null Q L 549 549 missense 0.294 benign 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1238078417 1q21.1 1 146982936A> C null Q P 549 549 missense 0.976 probably damaging 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1482343353 1q21.1 1 146982938G> A null E K 550 550 missense 0.942 probably damaging 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1229588114 1q21.1 1 146982951A> T null E V 554 554 missense 0.915 probably damaging 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1309576406 1q21.1 1 146982953G> A null E K 555 555 missense 0.921 probably damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1379323226 1q21.1 1 146982964G> T null Q H 558 558 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1314143994 1q21.1 1 146982965G> C null E Q 559 559 missense 0.343 benign 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1407991915 1q21.1 1 146982969C> T null S F 560 560 missense 0.276 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1369858371 1q21.1 1 146982974G> A null D N 562 562 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1308499171 1q21.1 1 146982980G> T null G C 564 564 missense 0.973 probably damaging 0.31 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1463336277 1q21.1 1 146982981G> T null G V 564 564 missense 0.343 benign 0.51 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1347863381 1q21.1 1 146982984A> G null Y C 565 565 missense 0.17 benign 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1418718378 1q21.1 1 146982992C> A null L I 568 568 missense 0.287 benign 0.43 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1251751394 1q21.1 1 146983005C> T null P L 572 572 missense 0.091 benign 0.64 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1471931629 1q21.1 1 146983004C> T null P S 572 572 missense 0.712 possibly damaging 0.37 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1196823338 1q21.1 1 146983008A> C null E A 573 573 missense 0.693 possibly damaging 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1196823338 1q21.1 1 146983008A> G null E G 573 573 missense 0.693 possibly damaging 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1264021169 1q21.1 1 146983011G> T null R M 574 574 missense 0.0 benign 0.5 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1220421557 1q21.1 1 146983014T> A null L * 575 575 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1294656183 1q21.1 1 146983017C> A null A D 576 576 missense 0.091 benign 0.93 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1294656183 1q21.1 1 146983017C> T null A V 576 576 missense 0.839 possibly damaging 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1288944802 1q21.1 1 146983024C> G null Y * 578 578 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1395480247 1q21.1 1 146983033C> A null Y * 581 581 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1457655480 1q21.1 1 146983031T> C null Y H 581 581 missense 0.946 probably damaging 0.32 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1167297776 1q21.1 1 146983035G> T null S I 582 582 missense 0.921 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1455719687 1q21.1 1 146983044T> C null F S 585 585 missense 0.999 probably damaging 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1411283718 1q21.1 1 146983050C> T null S L 587 587 missense 0.561 possibly damaging 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1265787955 1q21.1 1 146983054A> T null L F 588 588 missense 0.991 probably damaging 0.19 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1190963576 1q21.1 1 146983060A> T null E D 590 590 missense 0.937 probably damaging 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1469139498 1q21.1 1 146983061C> G null Q E 591 591 missense 0.79 possibly damaging 0.24 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1274666567 1q21.1 1 146983072C> A null C * 594 594 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1327891233 1q21.1 1 146983077C> A null A D 596 596 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1206392106 1q21.1 1 146983076G> T null A S 596 596 missense 0.993 probably damaging 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1268184410 1q21.1 1 146983085A> G null I V 599 599 missense 0.076 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1301450806 1q21.1 1 146984134G> C null R T 601 601 missense 0.199 benign 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1391486711 1q21.1 1 146984137A> G null H R 602 602 missense 0.022 benign 0.36 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1440289439 1q21.1 1 146984136C> T null H Y 602 602 missense 0.01 benign 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1553888259 1q21.1 1 146984140G> A null R Q 603 603 missense 0.018 benign 0.37 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1345027281 1q21.1 1 146984142T> A null W R 604 604 missense 0.196 benign 0.34 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1441870185 1q21.1 1 146984152T> C null V A 607 607 missense 0.712 possibly damaging 0.65 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1159636786 1q21.1 1 146984151G> T null V L 607 607 missense 0.155 benign 0.27 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1433305376 1q21.1 1 146984164A> G null D G 611 611 missense 0.431 benign 0.32 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1268812745 1q21.1 1 146984166C> G null Q E 612 612 missense 0.025 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1203380933 1q21.1 1 146984171G> C null E D 613 613 missense 0.017 benign 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1485501285 1q21.1 1 146984172G> A null A T 614 614 missense 0.036 benign 0.5 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1218533065 1q21.1 1 146984178G> T null G C 616 616 missense 0.043 benign 0.35 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1345409634 1q21.1 1 146984179G> A null G D 616 616 missense 0.637 possibly damaging 0.41 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1233797679 1q21.1 1 146984185G> A null R K 618 618 missense 0.122 benign 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1379232501 1q21.1 1 146984818G> A null S N 620 620 missense 0.316 benign 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1379232501 1q21.1 1 146984818G> C null S T 620 620 missense 0.882 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1420301850 1q21.1 1 146984820A> G null R G 621 621 missense 0.882 possibly damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1423025831 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146984822G> T null R S 621 621 missense 0.395 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1190530484 1q21.1 1 146984823G> A null E K 622 622 missense 0.839 possibly damaging 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1214099039 1q21.1 1 146984830T> C null L P 624 624 missense 0.999 probably damaging 0.15 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1239894572 1q21.1 1 146984833C> A null A D 625 625 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1285523449 1q21.1 1 146984832G> C null A P 625 625 missense 0.213 benign 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1318774493 1q21.1 1 146984835G> A null E K 626 626 missense 0.79 possibly damaging 0.79 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1318774493 1q21.1 1 146984835G> C null E Q 626 626 missense 0.321 benign 0.54 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1346611394 1q21.1 1 146984842A> G null E G 628 628 missense 0.0 benign 0.28 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1305343351 1q21.1 1 146984847G> C null E Q 630 630 missense 0.413 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1289055543 1q21.1 1 146984857A> C null Q P 633 633 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1454939352 1q21.1 1 146984860A> T null D V 634 634 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1375417905 1q21.1 1 146984862T> C null S P 635 635 missense 0.964 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1175359460 1q21.1 1 146984872G> C null R T 638 638 missense 0.885 possibly damaging 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1191270509 1q21.1 1 146984876T> A null C * 639 639 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1480727245 1q21.1 1 146984874T> C null C R 639 639 missense 0.963 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1431280090 1q21.1 1 146984875G> C null C S 639 639 missense 0.316 benign 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1191270509 1q21.1 1 146984876T> G null C W 639 639 missense 0.992 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1261344312 1q21.1 1 146984877T> G null Y D 640 640 missense 0.786 possibly damaging 0.21 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1205915203 1q21.1 1 146984881C> A null S * 641 641 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1203042266 1q21.1 1 146984883A> G null T A 642 642 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1285693082 1q21.1 1 146984884C> T null T I 642 642 missense 0.982 probably damaging 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1285693082 1q21.1 1 146984884C> A null T N 642 642 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1203042266 1q21.1 1 146984883A> C null T P 642 642 missense 0.982 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1383558094 1q21.1 1 146984890C> A null S * 644 644 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1295922426 1q21.1 1 146984889T> A null S T 644 644 missense 0.835 possibly damaging 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1301772078 1q21.1 1 146984893T> A null V D 645 645 missense 0.044 benign 0.16 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1301772078 1q21.1 1 146984893T> G null V G 645 645 missense 0.0 benign 0.21 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1408255304 1q21.1 1 146984896A> G null Y C 646 646 missense 0.0 benign 0.42 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1408255304 1q21.1 1 146984896A> C null Y S 646 646 missense 0.023 benign 0.36 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1194246235 1q21.1 1 146984899T> C null L P 647 647 missense 0.964 probably damaging 0.14 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1194246235 1q21.1 1 146984899T> G null L R 647 647 missense 0.948 probably damaging 0.84 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1373414446 1q21.1 1 146984898C> G null L V 647 647 missense 0.321 benign 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1254269048 1q21.1 1 146984902G> C null G A 648 648 missense 0.127 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1254269048 1q21.1 1 146984902G> A null G E 648 648 missense 0.003 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1183087798 1q21.1 1 146984905T> C null L P 649 649 missense 0.974 probably damaging 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1183087798 1q21.1 1 146984905T> G null L R 649 649 missense 0.931 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1197288879 1q21.1 1 146984913T> C null S P 652 652 missense 0.964 probably damaging 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1252260074 1q21.1 1 146984917G> C null C S 653 653 missense 0.991 probably damaging 0.38 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1230002893 1q21.1 1 146984921G> T null Q H 654 654 missense 0.935 probably damaging 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1311525861 1q21.1 1 146984923C> T null P L 655 655 missense 0.755 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1445947194 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146984926A> G null Y C 656 656 missense 0.973 probably damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1384332741 1q21.1 1 146984925T> C null Y H 656 656 missense 0.964 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1397038306 1q21.1 1 146984932G> A null S N 658 658 missense 0.09 benign 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1169441110 1q21.1 1 146984934G> A null A T 659 659 missense 0.143 benign 0.52 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1251813579 1q21.1 1 146984943G> A null V I 662 662 missense 0.013 benign 0.48 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1251813579 1q21.1 1 146984943G> C null V L 662 662 missense 0.151 benign 0.43 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1251813579 1q21.1 1 146984943G> T null V L 662 662 missense 0.151 benign 0.43 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1290647388 1q21.1 1 146984948G> C null L F 663 663 missense 0.061 benign 0.28 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1246236081 1q21.1 1 146984949G> T null E * 664 664 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1361055421 1q21.1 1 146984954A> C null Q H 665 665 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1440756467 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146984958C> T null R C 667 667 missense 0.975 probably damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1336300385 1q21.1 1 146984959G> A null R H 667 667 missense 0.045 benign 0.76 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1384901450 1q21.1 1 146984961G> A null V I 668 668 missense 0.075 benign 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1302847275 1q21.1 1 146984965G> C null G A 669 669 missense 0.94 probably damaging 0.38 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1302847275 1q21.1 1 146984965G> T null G V 669 669 missense 0.982 probably damaging 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1387254218 1q21.1 1 146984968T> A null L * 670 670 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1387254218 1q21.1 1 146984968T> G null L W 670 670 missense 0.018 benign 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1156957297 1q21.1 1 146984970G> C null A P 671 671 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1156957297 1q21.1 1 146984970G> A null A T 671 671 missense 0.396 benign 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1364924051 1q21.1 1 146984973G> A null V I 672 672 missense 0.018 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1364924051 1q21.1 1 146984973G> C null V L 672 672 missense 0.018 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1450298411 1q21.1 1 146984980T> C null M T 674 674 missense 0.352 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1184579466 1q21.1 1 146984979A> G null M V 674 674 missense 0.018 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1268617575 1q21.1 1 146984982G> T null D Y 675 675 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1431147745 1q21.1 1 146985717A> G null Y C 680 680 missense 0.987 probably damaging 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1190668087 1q21.1 1 146985719C> G null Q E 681 681 missense 0.525 possibly damaging 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1190668087 1q21.1 1 146985719C> A null Q K 681 681 missense 0.076 benign 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1261245113 1q21.1 1 146985740G> C null D H 688 688 missense 0.965 probably damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1241887813 1q21.1 1 146985753C> T null P L 692 692 missense 0.0 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1268265727 1q21.1 1 146986353C> G null L V 694 694 missense 0.218 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1193028622 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146986372C> A null A D 700 700 missense 0.0 benign 0.61 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1484919073 1q21.1 1 146986374G> T null E * 701 701 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1484919073 1q21.1 1 146986374G> A null E K 701 701 missense 0.001 benign 0.19 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1331758042 1q21.1 1 146986380G> C null E Q 703 703 missense 0.895 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1553888663 1q21.1 1 146986401T> C null S P 710 710 missense 0.014 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1223233733 1q21.1 1 146986404C> G null L V 711 711 missense 0.479 possibly damaging 0.15 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1312445815 1q21.1 1 146986411G> C null R T 713 713 missense 0.065 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1302915950 1q21.1 1 146986415T> G null C W 714 714 missense 0.253 benign 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1212342440 1q21.1 1 146986417A> G null Y C 715 715 missense 0.784 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1553888669 1q21.1 1 146986425C> G null P A 718 718 missense 0.248 benign 0.19 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1321217117 1q21.1 1 146986434T> C null Y H 721 721 missense 0.33 benign 0.53 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1437204557 1q21.1 1 146986456G> T null G V 728 728 missense 0.048 benign 0.5 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1466330192 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146986469A> C null R S 732 732 missense 0.027 benign 0.97 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1553888673 1q21.1 1 146986479T> C null Y H 736 736 missense 0.354 benign 0.14 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1389639626 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146986491G> A null E K 740 740 missense 0.003 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1189236476 1q21.1 1 146986512C> G null L V 747 747 missense 0.192 benign 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1466660131 1q21.1 1 146986515G> A null D N 748 748 missense 0.759 possibly damaging 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1200281685 1q21.1 1 146986518G> A null V M 749 749 missense 0.026 benign 0.1 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1483770478 1q21.1 1 146986521G> C null D H 750 750 missense 0.526 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1224786212 1q21.1 1 146986524A> G null R G 751 751 missense 0.291 benign 0.07 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1247867578 1q21.1 1 146987239A> T null K * 753 753 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1224431754 1q21.1 1 146987247C> A null D E 755 755 missense 0.866 possibly damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1463885509 1q21.1 1 146987248C> G null Q E 756 756 missense 0.041 benign 0.42 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1330820759 1q21.1 1 146987253A> T null E D 757 757 missense 0.801 possibly damaging 0.2 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1229350205 1q21.1 1 146987252A> T null E V 757 757 missense 0.895 possibly damaging 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1367690192 1q21.1 1 146987270G> A null G D 763 763 missense 0.007 benign 0.44 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1432832887 1q21.1 1 146987273C> T null P L 764 764 missense 0.024 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1432832887 1q21.1 1 146987273C> G null P R 764 764 missense 0.354 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1321017128 1q21.1 1 146987279G> A null C Y 766 766 missense 0.266 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1487435888 1q21.1 1 146987959G> T null S I 770 770 missense 0.554 possibly damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1272350738 1q21.1 1 146987960C> G null S R 770 770 missense 0.43 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782289303 1q21.1 1 146987962G> C null R T 771 771 missense 0.096 benign 0.23 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1237060984 1q21.1 1 146987970C> G null L V 774 774 missense 0.329 benign 0.25 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1307721111 1q21.1 1 146987975G> T null E D 775 775 missense 0.135 benign 0.16 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs201670582 1q21.1 1 146987977T> C null V A 776 776 missense 0.013 benign 0.89 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1393671919 1q21.1 1 146987976G> A null V I 776 776 missense 0.329 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553888879 1q21.1 1 146987985C> A null P T 779 779 missense 0.096 benign 0.13 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1325702941 1q21.1 1 146987992T> G null V G 781 781 missense 0.851 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1462277855 1q21.1 1 146987996G> T null L F 782 782 missense 0.266 benign 0.21 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1396304891 1q21.1 1 146987997C> G null Q E 783 783 missense 0.087 benign 0.36 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553888882 1q21.1 1 146987998A> G null Q R 783 783 missense 0.135 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1156508700 1q21.1 1 146988009G> A null D N 787 787 missense 0.003 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1452529712 1q21.1 1 146988016G> A null C Y 789 789 missense 0.598 possibly damaging 0.26 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553888884 1q21.1 1 146988022C> G null S * 791 791 missense 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553888885 1q21.1 1 146988024A> G null T A 792 792 missense 0.398 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1183297754 1q21.1 1 146988027C> T null P S 793 793 missense 0.81 possibly damaging 0.81 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1431407462 1q21.1 1 146988031C> G null S C 794 794 missense 0.848 possibly damaging 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1194092535 1q21.1 1 146988036T> C null C R 796 796 missense 0.598 possibly damaging 0.28 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1265938022 1q21.1 1 146988053C> A null D E 801 801 missense 0.631 possibly damaging 0.2 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1469648599 1q21.1 1 146988052A> G null D G 801 801 missense 0.737 possibly damaging 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1261423019 1q21.1 1 146988057T> C null C R 803 803 missense 0.598 possibly damaging 0.34 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1241239428 1q21.1 1 146988058G> A null C Y 803 803 missense 0.598 possibly damaging 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553888897 1q21.1 1 146988061A> T null Q L 804 804 missense 0.151 benign 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs200559938 1q21.1 1 146988068C> A null Y * 806 806 missense 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs201093508 1q21.1 1 146988069A> G null R G 807 807 missense 0.0 benign 0.39 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553888903 1q21.1 1 146988072A> T null S C 808 808 missense 0.848 possibly damaging 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1442191839 1q21.1 1 146988088T> C null L S 813 813 missense 0.773 possibly damaging 0.13 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs200441040 1q21.1 1 146988091A> G null E G 814 814 missense 0.617 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1373660614 1q21.1 1 146988090G> A null E K 814 814 missense 0.497 possibly damaging 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1373660614 1q21.1 1 146988090G> C null E Q 814 814 missense 0.617 possibly damaging 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1381330867 1q21.1 1 146988102G> A null V I 818 818 missense 0.205 benign 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1159843893 1q21.1 1 146988111T> C null S P 821 821 missense 0.514 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1464092583 1q21.1 1 146988115T> G null L R 822 822 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553888911 1q21.1 1 146988120G> A null V M 824 824 missense 0.788 possibly damaging 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1455489151 1q21.1 1 146988123G> A null G R 825 825 missense 0.98 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1320382821 1q21.1 1 146988844T> C null I T 827 827 missense 0.3 benign 0.42 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1389711276 1q21.1 1 146988880G> A null R K 839 839 missense 0.146 benign 0.93 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1372735786 1q21.1 1 146988886C> A null S * 841 841 missense 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs111385707 1q21.1 1 146988889A> C null K T 842 842 missense 0.617 possibly damaging 0.56 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1298910927 1q21.1 1 146988894A> G null K E 844 844 missense 0.0 benign 0.63 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1163936355 1q21.1 1 146988901G> A null R K 846 846 missense 0.146 benign 0.85 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1461815684 1q21.1 1 146988907G> A null G E 848 848 missense 0.97 probably damaging 0.86 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1370091566 1q21.1 1 146988909A> G null R G 849 849 missense 0.3 benign 0.36 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1417955746 1q21.1 1 146988927G> T null D Y 855 855 missense 0.937 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1180055060 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146988942T> A null C S 860 860 missense 0.04 benign 0.69 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1217888942 1q21.1 1 146991114C> G null L V 863 863 missense 0.535 possibly damaging 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs190121874 1q21.1 1 146991133C> A null A D 869 869 missense 0.0 benign 0.42 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs200904286 1q21.1 1 146991142A> G null E G 872 872 missense 0.027 benign 0.16 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1225371885 1q21.1 1 146991144C> G null P A 873 873 missense 0.094 benign 0.25 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1288439714 1q21.1 1 146991160A> T null D V 878 878 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs202242892 1q21.1 1 146991162T> C null S P 879 879 missense 0.244 benign 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs200504525 1q21.1 1 146991176T> A null C * 883 883 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs200504525 1q21.1 1 146991176T> G null C W 883 883 missense 0.005 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1178515969 1q21.1 1 146991184C> T null T I 886 886 missense 0.161 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1553889376 1q21.1 1 146991186C> G null P A 887 887 missense 0.079 benign 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1476517624 1q21.1 1 146991193G> T null G V 889 889 missense 0.063 benign 0.56 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1418163160 1q21.1 1 146991196A> G null Y C 890 890 missense 0.035 benign 0.19 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1486633108 1q21.1 1 146991202A> G null E G 892 892 missense 0.845 possibly damaging 0.13 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1235425421 1q21.1 1 146991217G> T null G V 897 897 missense 0.103 benign 0.5 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1264234406 1q21.1 1 146991222C> A null P T 899 899 missense 0.978 probably damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1206124237 1q21.1 1 146991226A> G null Y C 900 900 missense 0.737 possibly damaging 0.13 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs201129061 1q21.1 1 146991230A> C null R S 901 901 missense 0.001 benign 0.8 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs113947871 1q21.1 1 146991240T> C null Y H 905 905 missense 0.161 benign 0.31 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1215291649 1q21.1 1 146991249G> C null E Q 908 908 missense 0.33 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1364309004 1q21.1 1 146991252G> T null E * 909 909 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1364309004 1q21.1 1 146991252G> A null E K 909 909 missense 0.535 possibly damaging 0.06 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1338537970 1q21.1 1 146991273C> G null L V 916 916 missense 0.176 benign 0.28 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1463991280 1q21.1 1 146991276G> A null D N 917 917 missense 0.918 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1353913089 1q21.1 1 146991279G> A null V M 918 918 missense 0.102 benign 0.22 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1170501938 1q21.1 1 146991285A> G null R G 920 920 missense 0.594 possibly damaging 0.25 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1461241987 1q21.1 1 146992010A> G null Q R 925 925 missense 0.039 benign 0.14 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1257132286 1q21.1 1 146992016A> G null E G 927 927 missense 0.094 benign 0.34 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1305853038 1q21.1 1 146992018G> T null E * 928 928 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1272477752 1q21.1 1 146992024G> A null D N 930 930 missense 0.743 possibly damaging 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1215379213 1q21.1 1 146992031G> A null G D 932 932 missense 0.023 benign 0.56 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1344653816 1q21.1 1 146992034C> T null P L 933 933 missense 0.304 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1312605455 1q21.1 1 146992036C> G null P A 934 934 missense 0.245 benign 0.86 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1383373350 1q21.1 1 146992039T> C null C R 935 935 missense 0.977 probably damaging 0.35 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1324021150 1q21.1 1 146992716A> C null S R 939 939 missense 0.171 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1442970026 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146992720G> C null R T 940 940 missense 0.677 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1409621751 1q21.1 1 146992728C> G null L V 943 943 missense 0.151 benign 0.34 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs3969671 1q21.1 1 146992735T> C null V A 945 945 missense 0.024 benign 0.96 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1170442046 1q21.1 1 146992734G> A null V I 945 945 missense 0.355 benign 0.46 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1200076964 1q21.1 1 146992750T> G null V G 950 950 missense 0.836 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1559532643 1q21.1 1 146992756A> T null Q L 952 952 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1246739666 1q21.1 1 146992759A> G null D G 953 953 missense 0.521 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1208109512 1q21.1 1 146992769T> G null D E 956 956 missense 0.412 benign 0.18 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1286495744 1q21.1 1 146992782A> G null T A 961 961 missense 0.983 probably damaging 0.05 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1217666465 1q21.1 1 146992789C> G null S C 963 963 missense 0.807 possibly damaging 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1275177973 1q21.1 1 146992792G> T null S I 964 964 missense 0.177 benign 0.39 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1236246925 1q21.1 1 146992794T> C null C R 965 965 missense 0.783 possibly damaging 0.31 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1362875674 1q21.1 1 146992800G> C null E Q 967 967 missense 0.822 possibly damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1435810628 1q21.1 1 146992816G> C null C S 972 972 missense 0.616 possibly damaging 0.49 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1435810628 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146992816G> A null C Y 972 972 missense 0.477 possibly damaging 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1559532683 1q21.1 1 146992819A> T null Q L 973 973 missense 0.19 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1331689321 1q21.1 1 146992821C> T null P S 974 974 missense 0.743 possibly damaging 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs201162415 1q21.1 1 146992827A> G null R G 976 976 missense 0.0 benign 0.38 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1425472871 1q21.1 1 146992830A> T null S C 977 977 missense 0.995 probably damaging 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1174604726 1q21.1 1 146992849A> G null E G 983 983 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1388775145 1q21.1 1 146992870C> T null S F 990 990 missense 0.907 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1476053134 1q21.1 1 146992878G> A null V M 993 993 missense 0.147 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1208148343 1q21.1 1 146992882G> T null G V 994 994 missense 0.441 benign 0.14 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes rs587689457 1q21.1 1 146993602T> A null I N 996 996 0.001398 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889698 1q21.1 1 146993607A> T null K * 998 998 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889701 1q21.1 1 146993624G> T null K N 1003 1003 missense 0.997 probably damaging 0.15 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1553889703 1q21.1 1 146993626A> T null K I 1004 1004 missense 0.027 benign 0.04 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889704 1q21.1 1 146993631A> G null R G 1006 1006 missense 0.991 probably damaging 0.26 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889707 1q21.1 1 146993632G> T null R M 1006 1006 missense 0.997 probably damaging 0.23 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889710 1q21.1 1 146993641G> T null R I 1009 1009 missense 0.996 probably damaging 0.4 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1559532947 1q21.1 1 146993647A> C null K T 1011 1011 missense 0.021 benign 0.44 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs781829241 1q21.1 1 146993652A> G null K E 1013 1013 missense 0.009 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889715 1q21.1 1 146993657A> C null R S 1014 1014 missense 0.991 probably damaging 0.21 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889717 1q21.1 1 146993659G> A null R K 1015 1015 missense 0.978 probably damaging 0.58 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1261777984 1q21.1 1 146993665G> A null G E 1017 1017 missense 1.0 probably damaging 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1206410305 1q21.1 1 146993667A> G null R G 1018 1018 missense 0.093 benign 0.56 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1559532990 1q21.1 1 146993669A> T null R S 1018 1018 missense 0.011 benign 0.56 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889732 1q21.1 1 146993668G> C null R T 1018 1018 missense 0.143 benign 0.35 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889734 1q21.1 1 146993673G> C null E Q 1020 1020 missense 0.968 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889737 1q21.1 1 146993677G> A null G E 1021 1021 missense 0.007 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889747 1q21.1 1 146993687T> G null D E 1024 1024 missense 0.969 probably damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1482045241 1q21.1 1 146993686A> T null D V 1024 1024 missense 0.762 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889740 1q21.1 1 146993685G> T null D Y 1024 1024 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889754 1q21.1 1 146993693C> G null N K 1026 1026 missense 0.624 possibly damaging 0.25 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889752 1q21.1 1 146993692A> C null N T 1026 1026 missense 0.522 possibly damaging 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782486479 1q21.1 1 146993694C> A null P T 1027 1027 missense 0.925 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889756 1q21.1 1 146993700T> A null C S 1029 1029 missense 0.997 probably damaging 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553889757 1q21.1 1 146993702C> G null C W 1029 1029 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1328056699 1q21.1 1 146994334T> G null L R 1032 1032 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1395286836 1q21.1 1 146994333C> G null L V 1032 1032 missense 0.984 probably damaging 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1451849719 1q21.1 1 146994336A> C null N H 1033 1033 missense 0.404 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782497445 1q21.1 1 146994338C> G null N K 1033 1033 missense 0.091 benign 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs781905778 1q21.1 1 146994337A> G null N S 1033 1033 missense 0.001 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782652561 1q21.1 1 146994339A> T null S C 1034 1034 missense 0.535 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782652561 1q21.1 1 146994339A> G null S G 1034 1034 missense 0.0 benign 0.21 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1420646498 1q21.1 1 146994341C> G null S R 1034 1034 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1254287726 1q21.1 1 146994343T> A null V E 1035 1035 missense 0.001 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782485156 1q21.1 1 146994342G> T null V L 1035 1035 missense 0.019 benign 0.29 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782485156 1q21.1 1 146994342G> A null V M 1035 1035 missense 0.024 benign 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1553890010 1q21.1 1 146994346T> C null L P 1036 1036 missense 0.379 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1184279135 1q21.1 1 146994345C> G null L V 1036 1036 missense 0.969 probably damaging 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782236586 1q21.1 1 146994350G> T null M I 1037 1037 missense 0.015 benign 0.32 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782236586 1q21.1 1 146994350G> A null M I 1037 1037 missense 0.015 benign 0.32 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890017 1q21.1 1 146994349T> A null M K 1037 1037 missense 0.073 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782413468 1q21.1 1 146994348A> T null M L 1037 1037 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782413468 1q21.1 1 146994348A> C null M L 1037 1037 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1372405580 1q21.1 1 146994352A> C null E A 1038 1038 missense 0.461 possibly damaging 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782384736 1q21.1 1 146994353A> T null E D 1038 1038 missense 0.017 benign 0.23 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890024 1q21.1 1 146994351G> C null E Q 1038 1038 missense 0.62 possibly damaging 0.17 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782335688 1q21.1 1 146994355T> A null V E 1039 1039 missense 0.003 benign 0.16 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587729651 1q21.1 1 146994354G> T null V L 1039 1039 2.0E-4 missense 0.124 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587729651 1q21.1 1 146994354G> A null V M 1039 1039 2.0E-4 missense 0.676 possibly damaging 0.15 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782023062 1q21.1 1 146994357G> T null E * 1040 1040 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782779225 1q21.1 1 146994359A> C null E D 1040 1040 missense 0.174 benign 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782023062 1q21.1 1 146994357G> A null E K 1040 1040 missense 0.009 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782023062 1q21.1 1 146994357G> C null E Q 1040 1040 missense 0.31 benign 0.24 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890028 1q21.1 1 146994362G> T null E D 1041 1041 missense 0.021 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs781869617 1q21.1 1 146994361A> G null E G 1041 1041 missense 0.0 benign 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1373360535 1q21.1 1 146994360G> A null E K 1041 1041 missense 0.31 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs781869617 1q21.1 1 146994361A> T null E V 1041 1041 missense 0.589 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587627377 1q21.1 1 146994363C> G null P A 1042 1042 2.0E-4 missense 0.449 possibly damaging 0.28 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1435206511 1q21.1 1 146994364C> G null P R 1042 1042 missense 0.094 benign 0.56 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890029 1q21.1 1 146994368A> C null E D 1043 1043 missense 0.288 benign 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782745432 1q21.1 1 146994367A> T null E V 1043 1043 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs781788147 1q21.1 1 146994369G> T null V F 1044 1044 missense 0.929 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs781788147 1q21.1 1 146994369G> A null V I 1044 1044 missense 0.131 benign 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs200052115 1q21.1 1 146994374G> T null L F 1045 1045 missense 0.949 probably damaging 0.14 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC rs587682523 1q21.1 1 146994373T> C null L S 1045 1045 2.0E-4 missense 0.245 benign 0.7 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782651291 1q21.1 1 146994375C> T null Q * 1046 1046 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782232107 1q21.1 1 146994378G> C null D H 1047 1047 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,NCI-TCGA,gnomAD rs782232107 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146994378G> A null D N 1047 1047 missense 0.953 probably damaging 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1559533622 1q21.1 1 146994379A> T null D V 1047 1047 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782232107 1q21.1 1 146994378G> T null D Y 1047 1047 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890037 1q21.1 1 146994382C> T null S L 1048 1048 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782445480 1q21.1 1 146994384C> G null L V 1049 1049 missense 0.656 possibly damaging 0.21 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1349162883 1q21.1 1 146994388A> T null D V 1050 1050 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890038 1q21.1 1 146994387G> T null D Y 1050 1050 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782285375 1q21.1 1 146994390A> G null R G 1051 1051 missense 0.003 benign 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs781986814 1q21.1 1 146994391G> T null R I 1051 1051 missense 0.007 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782260850 1q21.1 1 146994392A> T null R S 1051 1051 missense 0.155 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782338656 1q21.1 1 146994394G> T null C F 1052 1052 missense 0.143 benign 0.58 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs200999858 1q21.1 1 146994395T> G null C W 1052 1052 missense 0.824 possibly damaging 0.18 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782338656 1q21.1 1 146994394G> A null C Y 1052 1052 missense 0.023 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1415173440 1q21.1 1 146994397A> G null Y C 1053 1053 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,NCI-TCGA,TOPMed,gnomAD rs200985386 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146994400C> T null S L 1054 1054 missense 0.044 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs200985386 1q21.1 1 146994400C> G null S W 1054 1054 missense 0.988 probably damaging 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782014227 1q21.1 1 146994403C> T null T I 1055 1055 missense 0.561 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1373122655 1q21.1 1 146994402A> C null T P 1055 1055 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782014227 1q21.1 1 146994403C> G null T S 1055 1055 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1373122655 1q21.1 1 146994402A> T null T S 1055 1055 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890047 1q21.1 1 146994405C> G null P A 1056 1056 missense 0.738 possibly damaging 0.16 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs374120061 1q21.1 1 146994409C> T null S L 1057 1057 missense 0.031 benign 0.18 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1258757486 1q21.1 1 146994413G> A null M I 1058 1058 missense 0.024 benign 0.75 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1258757486 1q21.1 1 146994413G> C null M I 1058 1058 missense 0.024 benign 0.75 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782698285 1q21.1 1 146994412T> A null M K 1058 1058 missense 0.024 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782698285 1q21.1 1 146994412T> G null M R 1058 1058 missense 0.0 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782698285 1q21.1 1 146994412T> C null M T 1058 1058 missense 0.003 benign 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782473495 1q21.1 1 146994411A> G null M V 1058 1058 missense 0.023 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890052 1q21.1 1 146994416C> A null Y * 1059 1059 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1194550749 1q21.1 1 146994415A> T null Y F 1059 1059 missense 0.29 benign 0.7 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs76196019 1q21.1 1 146994418T> G null F C 1060 1060 missense 0.001 benign 0.18 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1480609022 1q21.1 1 146994417T> C null F L 1060 1060 missense 0.0 benign 0.67 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782543413 1q21.1 1 146994419T> G null F L 1060 1060 missense 0.0 benign 0.67 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782688263 1q21.1 1 146994420G> C null E Q 1061 1061 missense 0.161 benign 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1251912536 1q21.1 1 146994423C> G null L V 1062 1062 missense 0.883 possibly damaging 0.11 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs113829174 1q21.1 1 146994427C> T null P L 1063 1063 missense 0.132 benign 0.14 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs113829174 1q21.1 1 146994427C> G null P R 1063 1063 missense 0.007 benign 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782522830 1q21.1 1 146994426C> T null P S 1063 1063 missense 0.024 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782522830 1q21.1 1 146994426C> A null P T 1063 1063 missense 0.003 benign 0.8 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587610532 1q21.1 1 146994431C> G null D E 1064 1064 9.98E-4 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782224454 1q21.1 1 146994429G> C null D H 1064 1064 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782224454 1q21.1 1 146994429G> A null D N 1064 1064 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782224454 1q21.1 1 146994429G> T null D Y 1064 1064 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs781931700 1q21.1 1 146994432T> C null S P 1065 1065 missense 0.908 possibly damaging 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs781931700 1q21.1 1 146994432T> A null S T 1065 1065 missense 0.657 possibly damaging 0.66 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587659782 1q21.1 1 146994436T> G null F C 1066 1066 0.002396 missense 0.0 benign 0.2 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1390712439 1q21.1 1 146994437C> G null F L 1066 1066 missense 0.024 benign 0.65 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890064 1q21.1 1 146994438C> G null Q E 1067 1067 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1397158152 1q21.1 1 146994439A> C null Q P 1067 1067 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587743545 1q21.1 1 146994442A> T null H L 1068 1068 2.0E-4 missense 0.086 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587743545 1q21.1 1 146994442A> C null H P 1068 1068 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782714864 1q21.1 1 146994446C> G null Y * 1069 1069 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587616517 1q21.1 1 146994445A> G null Y C 1069 1069 2.0E-4 missense 0.211 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587616517 1q21.1 1 146994445A> C null Y S 1069 1069 2.0E-4 missense 0.892 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890066 1q21.1 1 146994447A> T null R * 1070 1070 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs781926413 1q21.1 1 146994449A> T null R S 1070 1070 missense 0.017 benign 0.62 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782069903 1q21.1 1 146994451G> A null S N 1071 1071 missense 0.336 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782069903 1q21.1 1 146994451G> C null S T 1071 1071 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1201147060 1q21.1 1 146994454T> C null V A 1072 1072 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1251873357 1q21.1 1 146994453G> T null V L 1072 1072 missense 0.039 benign 0.03 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890070 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146994456T> G null F V 1073 1073 missense 0.053 benign 0.2 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs201963778 1q21.1 1 146994461C> G null Y * 1074 1074 3.99E-4 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890071 1q21.1 1 146994463C> T null S L 1075 1075 missense 0.083 benign 0.27 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1358780920 1q21.1 1 146994467T> A null F L 1076 1076 missense 0.001 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890073 1q21.1 1 146994469A> G null E G 1077 1077 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782508697 1q21.1 1 146994468G> A null E K 1077 1077 missense 0.288 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782508697 1q21.1 1 146994468G> C null E Q 1077 1077 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782780996 1q21.1 1 146994471G> A null E K 1078 1078 missense 0.021 benign 0.15 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782780996 1q21.1 1 146994471G> C null E Q 1078 1078 missense 0.02 benign 0.14 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890076 1q21.1 1 146994474C> T null Q * 1079 1079 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782490121 1q21.1 1 146994475A> G null Q R 1079 1079 missense 0.47 possibly damaging 0.23 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1393052438 1q21.1 1 146994479C> A null H Q 1080 1080 missense 0.01 benign 0.3 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1438680248 1q21.1 1 146994478A> G null H R 1080 1080 missense 0.001 benign 0.36 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890078 1q21.1 1 146994477C> T null H Y 1080 1080 missense 0.001 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890080 1q21.1 1 146994480A> C null I L 1081 1081 missense 0.0 benign 0.15 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1406689567 1q21.1 1 146994481T> A null I N 1081 1081 missense 0.163 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890080 1q21.1 1 146994480A> G null I V 1081 1081 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs4028590 1q21.1 1 146994484C> T null T I 1082 1082 0.07728 missense 0.024 benign 0.2 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs4028590 1q21.1 1 146994484C> A null T N 1082 1082 0.07728 missense 0.003 benign 0.32 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs4028590 1q21.1 1 146994484C> G null T S 1082 1082 0.07728 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782688837 1q21.1 1 146994486T> C null F L 1083 1083 missense 0.0 benign 0.81 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782241389 1q21.1 1 146994488T> A null F L 1083 1083 missense 0.0 benign 0.81 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1381381826 1q21.1 1 146994487T> C null F S 1083 1083 missense 0.213 benign 0.58 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782386098 1q21.1 1 146994489G> C null A P 1084 1084 missense 0.89 possibly damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782386098 1q21.1 1 146994489G> T null A S 1084 1084 missense 0.11 benign 0.3 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587683629 1q21.1 1 146994490C> T null A V 1084 1084 2.0E-4 missense 0.717 possibly damaging 0.09 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1453472500 1q21.1 1 146994492C> A null L I 1085 1085 missense 0.015 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587764085 1q21.1 1 146994497C> G null D E 1086 1086 3.99E-4 missense 0.062 benign 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782222212 1q21.1 1 146994495G> C null D H 1086 1086 missense 0.674 possibly damaging 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782332629 1q21.1 1 146994496A> T null D V 1086 1086 missense 0.296 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782222212 1q21.1 1 146994495G> T null D Y 1086 1086 missense 0.012 benign 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs763312742 1q21.1 1 146994500G> A null M I 1087 1087 missense 0.015 benign 0.23 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587613562 1q21.1 1 146994498A> T null M L 1087 1087 2.0E-4 missense 0.001 benign 0.02 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782007127 1q21.1 1 146994499T> G null M R 1087 1087 missense 0.316 benign 0.0 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587613562 1q21.1 1 146994498A> G null M V 1087 1087 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782748121 1q21.1 1 146994503C> G null D E 1088 1088 missense 0.137 benign 0.05 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890093 1q21.1 1 146994502A> G null D G 1088 1088 missense 0.892 possibly damaging 0.08 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782088413 1q21.1 1 146994501G> A null D N 1088 1088 missense 0.892 possibly damaging 0.24 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782088413 1q21.1 1 146994501G> T null D Y 1088 1088 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes rs587687371 1q21.1 1 146994506T> A null N K 1089 1089 3.99E-4 missense 0.212 benign 0.34 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782062603 1q21.1 1 146994507A> G null S G 1090 1090 missense 0.018 benign 0.28 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890096 1q21.1 1 146994508G> T null S I 1090 1090 missense 0.265 benign 0.12 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782062603 1q21.1 1 146994507A> C null S R 1090 1090 missense 0.011 benign 0.77 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs4028591 1q21.1 1 146994509C> G null S R 1090 1090 0.008986 missense 0.011 benign 0.77 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC rs782507247 1q21.1 1 146994512T> G null F L 1091 1091 missense 0.269 benign 0.3 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782648466 1q21.1 1 146994514T> G null F C 1092 1092 missense 0.884 possibly damaging 0.07 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs1559533898 1q21.1 1 146994513T> C null F L 1092 1092 missense 0.009 benign 0.48 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782648466 1q21.1 1 146994514T> C null F S 1092 1092 missense 0.113 benign 0.35 tolerated 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1400972903 1q21.1 1 146994517C> G null T S 1093 1093 missense 0.031 benign 0.49 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890100 1q21.1 1 146994521G> C null L F 1094 1094 missense 0.926 probably damaging 0.08 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs781817226 1q21.1 1 146994523C> T null T M 1095 1095 missense 0.09 benign 0.03 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1395010694 1q21.1 1 146994526T> C null V A 1096 1096 missense 0.383 benign 0.01 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1395010694 1q21.1 1 146994526T> G null V G 1096 1096 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782420853 1q21.1 1 146994525G> T null V L 1096 1096 missense 0.383 benign 0.02 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,NCI-TCGA,gnomAD rs782649226 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146994528A> G null T A 1097 1097 missense 0.1 benign 0.21 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587645371 1q21.1 1 146994529C> G null T R 1097 1097 0.005192 missense 0.526 possibly damaging 0.02 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs781973640 1q21.1 1 146994531A> G null S G 1098 1098 missense 0.017 benign 0.05 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed rs1192722105 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146994532G> T null S I 1098 1098 missense 0.784 possibly damaging 0.03 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs781973640 1q21.1 1 146994531A> C null S R 1098 1098 missense 0.053 benign 1.0 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs200424287 1q21.1 1 146994534C> T null L F 1099 1099 0.008786 missense 0.027 benign 0.04 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs200424287 1q21.1 1 146994534C> G null L V 1099 1099 0.008786 missense 0.383 benign 0.04 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs111770433 1q21.1 1 146994537C> A null H N 1100 1100 missense 0.889 possibly damaging 0.02 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs112657616 1q21.1 1 146994538A> C null H P 1100 1100 missense 0.465 possibly damaging 0.01 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs112657616 1q21.1 1 146994538A> G null H R 1100 1100 missense 0.918 probably damaging 0.01 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs111770433 1q21.1 1 146994537C> T null H Y 1100 1100 missense 0.094 benign 0.14 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs781866583 1q21.1 1 146994540C> G null L V 1101 1101 missense 0.037 benign 0.11 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782075731 1q21.1 1 146994543G> T null V F 1102 1102 missense 0.85 possibly damaging 0.05 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs781783106 1q21.1 1 146994547T> G null F C 1103 1103 missense 0.974 probably damaging 0.06 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1269128017 1q21.1 1 146994551G> T null Q H 1104 1104 missense 0.228 benign 0.2 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1269128017 1q21.1 1 146994551G> C null Q H 1104 1104 missense 0.228 benign 0.2 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782542936 1q21.1 1 146994550A> T null Q L 1104 1104 missense 0.277 benign 0.06 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 Ensembl rs781838245 1q21.1 1 146994554G> T null M I 1105 1105 missense 0.017 benign 0.27 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782817836 1q21.1 1 146994552A> T null M L 1105 1105 missense 0.005 benign 0.68 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782817836 1q21.1 1 146994552A> G null M V 1105 1105 missense 0.028 benign 0.04 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1300362893 1q21.1 1 146994556G> A null G E 1106 1106 missense 0.055 benign 0.79 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,NCI-TCGA,gnomAD rs782535993 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.1 1 146994555G> A null G R 1106 1106 missense 0.09 benign 0.29 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 TOPMed,gnomAD rs1375281853 1q21.1 1 146994558G> A null V I 1107 1107 missense 0.431 benign 0.28 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782432977 1q21.1 1 146994561A> T null I L 1108 1108 missense 0.386 benign 0.51 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 1000Genomes,ExAC,TOPMed,gnomAD rs587774446 1q21.1 1 146994563A> G null I M 1108 1108 3.99E-4 missense 0.965 probably damaging 0.03 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782583470 1q21.1 1 146994562T> G null I R 1108 1108 missense 0.824 possibly damaging 0.0 deleterious - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 gnomAD rs1553890114 1q21.1 1 146994568C> T null P L 1110 1110 missense 0.234 benign 0.44 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs782420122 1q21.1 1 146994570C> T null Q * 1111 1111 stop gained 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs112194652 1q21.1 1 146994572A> T null Q H 1111 1111 missense 0.061 benign 0.8 tolerated - low confidence 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,gnomAD rs782251352 1q21.1 1 146994573T> C null * Q 1112 1112 stop lost 0 A0A075B764 NBPF12 Neuroblastoma breakpoint family member 12 ExAC,TOPMed,gnomAD rs112665386 1q21.1 1 146994575A> T null * Y 1112 1112 stop lost 0 A0A075B765 ANXA8 Annexin TOPMed,dbSNP,gnomAD rs3870786 pubmed:2530088 10q11.22 10 47483918A> C null S A 6 6 missense 0.0 benign 1.0 tolerated 0 A0A075B765 ANXA8 Annexin gnomAD rs1555222786 10q11.22 10 47479856G> T null S R 18 18 missense 0.255 benign 0.07 tolerated 0 A0A075B765 ANXA8 Annexin gnomAD rs1555222783 10q11.22 10 47479854G> A null S F 19 19 missense 0.169 benign 0.36 tolerated 0 A0A075B765 ANXA8 Annexin gnomAD rs1555222781 10q11.22 10 47479850G> T null H Q 20 20 missense 0.273 benign 0.06 tolerated 0 A0A075B765 ANXA8 Annexin gnomAD rs1555222780 10q11.22 10 47479803C> G null G A 36 36 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1290227692 10q11.22 10 47478741C> T null G D 38 38 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin gnomAD rs1555222779 10q11.22 10 47479798C> T null G S 38 38 missense 0.936 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1385680745 10q11.22 10 47478728T> G null Q H 42 42 missense 0.046 benign 0.12 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1321578278 10q11.22 10 47478705G> A null A V 50 50 missense 0.0 benign 0.27 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed,gnomAD rs1223931370 10q11.22 10 47478700C> T null A T 52 52 missense 0.0 benign 0.31 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1326749817 10q11.22 10 47478685C> T null A T 57 57 missense 0.015 benign 0.67 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1241481951 10q11.22 10 47478675C> T null S N 60 60 missense 0.001 benign 0.48 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1261464058 10q11.22 10 47478666G> A null P L 63 63 missense 0.0 benign 0.33 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1490650383 10q11.22 10 47478660C> T null G E 65 65 missense 0.0 benign 0.35 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1271763456 10q11.22 10 47478661C> T null G R 65 65 missense 0.0 benign 0.38 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1271763456 10q11.22 10 47478661C> A null G W 65 65 missense 0.035 benign 0.18 tolerated 0 A0A075B765 ANXA8 Annexin Ensembl rs1555222711 10q11.22 10 47478654T> C null Q R 67 67 missense 0.0 benign 0.38 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1250105976 10q11.22 10 47478635G> T null N K 73 73 missense 0.0 benign 1.0 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1182030983 10q11.22 10 47478637T> A null N Y 73 73 missense 0.0 benign 0.05 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed,gnomAD rs1473740697 10q11.22 10 47478634G> C null P A 74 74 missense 0.021 benign 0.79 tolerated 0 A0A075B765 ANXA8 Annexin Ensembl rs1555222707 10q11.22 10 47478633G> A null P L 74 74 missense 0.013 benign 0.19 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1160862229 10q11.22 10 47478631C> T null A T 75 75 missense 0.003 benign 0.06 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1457032115 10q11.22 10 47478619C> T null E K 79 79 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1160915436 10q11.22 10 47478613C> T null A T 81 81 missense 0.998 probably damaging 0.1 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1367424255 10q11.22 10 47478610T> C null I V 82 82 missense 0.028 benign 0.06 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1308046617 10q11.22 10 47478592T> G null K Q 88 88 missense 0.58 possibly damaging 0.09 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1321344118 10q11.22 10 47478588C> G null R T 89 89 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1294073188 10q11.22 10 47478579G> A null T M 92 92 missense 0.195 benign 0.08 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1294073188 10q11.22 10 47478579G> C null T R 92 92 missense 0.079 benign 0.11 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1360206357 10q11.22 10 47478577G> A null Q * 93 93 stop gained 0 A0A075B765 ANXA8 Annexin TOPMed rs1481860205 10q11.22 10 47478573C> A null R L 94 94 missense 0.998 probably damaging 1.0 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1481860205 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 47478573C> T null R Q 94 94 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed,gnomAD rs1205081233 10q11.22 10 47478574G> A null R W 94 94 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1178139058 10q11.22 10 47478565T> A null I F 97 97 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1422854333 10q11.22 10 47478562C> T null A T 98 98 missense 0.998 probably damaging 0.49 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1386586054 10q11.22 10 47478555G> A null S F 100 100 missense 0.931 probably damaging 0.03 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1167897722 10q11.22 10 47478546G> T null A D 103 103 missense 0.171 benign 0.26 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1298503271 10q11.22 10 47478539G> T null F L 105 105 missense 0.489 possibly damaging 0.12 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1368618930 10q11.22 10 47478540A> T null F Y 105 105 missense 0.041 benign 0.99 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1378112224 10q11.22 10 47478538C> T null G S 106 106 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1223146447 10q11.22 10 47477190A> G null L P 109 109 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1318249810 10q11.22 10 47477191G> C null L V 109 109 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1261482498 10q11.22 10 47477182T> A null T S 112 112 missense 0.017 benign 0.2 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1195909392 10q11.22 10 47477142A> G null I T 125 125 missense 0.761 possibly damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1198317850 10q11.22 10 47477134G> T null L I 128 128 missense 0.997 probably damaging 0.15 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1426766977 10q11.22 10 47477131T> G null M L 129 129 missense 0.801 possibly damaging 0.53 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1467172070 10q11.22 10 47477125G> C null P A 131 131 missense 0.033 benign 0.12 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1172633013 10q11.22 10 47477124G> A null P L 131 131 missense 0.001 benign 0.03 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1398885377 10q11.22 10 47477122G> A null P S 132 132 missense 0.998 probably damaging 0.27 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1404102259 10q11.22 10 47477117G> T null Y * 133 133 stop gained 0 A0A075B765 ANXA8 Annexin TOPMed rs1299896787 10q11.22 10 47477119A> G null Y H 133 133 missense 0.949 probably damaging 0.4 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1333024270 10q11.22 10 47477111G> C null Y * 135 135 stop gained 0 A0A075B765 ANXA8 Annexin TOPMed rs1234169612 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 47477110C> T null E K 136 136 missense 0.738 possibly damaging 0.01 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1219457731 10q11.22 10 47477094T> C null H R 141 141 missense 0.258 benign 0.99 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1287356192 10q11.22 10 47477092C> T null D N 142 142 missense 0.025 benign 0.39 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1220680586 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 47477089C> T null A T 143 143 missense 0.145 benign 0.01 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1243691848 10q11.22 10 47474994T> C null D G 149 149 missense 0.992 probably damaging 0.05 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1243691848 10q11.22 10 47474994T> A null D V 149 149 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1336370416 10q11.22 10 47474973T> C null D G 156 156 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs75345346 10q11.22 10 47474967C> G null G A 158 158 missense 0.001 benign 1.0 tolerated 0 A0A075B765 ANXA8 Annexin Ensembl rs1565815452 10q11.22 10 47474968C> T null G R 158 158 missense 0.009 benign 0.07 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1479617905 10q11.22 10 47474965G> C null L V 159 159 missense 0.389 benign 0.03 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1197424341 10q11.22 10 47474956G> C null Q E 162 162 missense 0.987 probably damaging 0.13 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1423021891 10q11.22 10 47474950C> T null A T 164 164 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1235297226 10q11.22 10 47474391T> C null Y C 168 168 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1293997808 10q11.22 10 47474389C> T null A T 169 169 missense 0.052 benign 0.28 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1275687360 10q11.22 10 47474380C> T null E K 172 172 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1308500001 10q11.22 10 47474377T> C null K E 173 173 missense 0.469 possibly damaging 0.11 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs977788 10q11.22 10 47474375C> A null K N 173 173 missense 0.038 benign 0.27 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1255805570 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 47474371G> A null R C 175 175 missense 0.0 benign 0.21 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1484491390 10q11.22 10 47474370C> T null R H 175 175 missense 0.0 benign 0.41 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1189602635 10q11.22 10 47474368C> T null G R 176 176 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1257683838 10q11.22 10 47474347T> A null I F 183 183 missense 0.997 probably damaging 0.06 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1166135509 10q11.22 10 47474340A> G null I T 185 185 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1172787296 10q11.22 10 47474334C> T null C Y 187 187 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1416919198 10q11.22 10 47474331G> T null T K 188 188 missense 0.151 benign 0.15 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1416919198 10q11.22 10 47474331G> A null T M 188 188 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1325972402 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 47474329G> A null R C 189 189 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1428700586 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 47474328C> T null R H 189 189 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1271958312 10q11.22 10 47474323C> T null A T 191 191 missense 0.998 probably damaging 0.37 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1378920550 10q11.22 10 47472186A> G null C R 199 199 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1466120009 10q11.22 10 47472164T> C null Y C 206 206 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1266270518 10q11.22 10 47471345C> T null V I 230 230 missense 0.041 benign 0.01 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed,gnomAD rs1331865045 10q11.22 10 47471329A> G null I T 235 235 missense 0.043 benign 0.04 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1176356622 10q11.22 10 47468903C> T null D N 259 259 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1337742244 10q11.22 10 47468891C> G null D H 263 263 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1359427403 10q11.22 10 47468885T> C null K E 265 265 missense 0.665 possibly damaging 0.07 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1363433818 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 47468879C> T null A T 267 267 missense 0.998 probably damaging 0.3 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1263493407 10q11.22 10 47468870T> C null S G 270 270 missense 0.083 benign 0.37 tolerated 0 A0A075B765 ANXA8 Annexin TOPMed rs1198742778 10q11.22 10 47468856G> T null S R 274 274 missense 0.443 benign 0.0 deleterious 0 A0A075B765 ANXA8 Annexin TOPMed rs1427838234 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 47468855C> T null D N 275 275 missense 0.009 benign 0.26 tolerated 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1207980653 1q21.1 1 146344703C> T null V I 5 5 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1489448200 1q21.1 1 146344700C> T null V I 6 6 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1210213528 1q21.1 1 146344693A> G null F S 8 8 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H Ensembl rs2490184 1q21.1 1 146344689G> T null D E 9 9 missense 0.211 benign 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1431033496 1q21.1 1 146344682C> T null V I 12 12 missense 0.001 benign 0.55 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1471989918 1q21.1 1 146344676C> T null G S 14 14 missense 0.017 benign 0.17 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1156379330 1q21.1 1 146344673T> A null K * 15 15 stop gained 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1459958142 1q21.1 1 146344661G> A null R C 19 19 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1294475388 1q21.1 1 146344660C> T null R H 19 19 missense 0.0 benign 0.36 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1310114260 1q21.1 1 146344656G> C null I M 20 20 missense 0.632 possibly damaging 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1390471590 1q21.1 1 146344657A> T null I N 20 20 missense 0.632 possibly damaging 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1351391191 1q21.1 1 146344649T> A null K * 23 23 stop gained 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1286606816 1q21.1 1 146344645A> T null L Q 24 24 missense 0.911 probably damaging 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1245451551 1q21.1 1 146344636T> C null D G 27 27 missense 0.152 benign 0.02 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1323423272 1q21.1 1 146344637C> G null D H 27 27 missense 0.302 benign 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1264565106 1q21.1 1 146344631T> A null I F 29 29 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H Ensembl rs1553845647 1q21.1 1 146344627G> A null P L 30 30 missense 0.922 probably damaging 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1487398830 1q21.1 1 146344623C> A null K N 31 31 missense 0.491 possibly damaging 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1206793040 1q21.1 1 146344619C> T null A T 33 33 missense 0.397 benign 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1252056859 1q21.1 1 146344613T> G null N H 35 35 missense 0.275 benign 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1179381981 1q21.1 1 146344609A> C null F C 36 36 missense 0.306 benign 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1482545943 1q21.1 1 146344610A> T null F I 36 36 missense 0.183 benign 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1166150756 1q21.1 1 146344606C> T null R H 37 37 missense 0.005 benign 0.47 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1166150756 1q21.1 1 146344606C> A null R L 37 37 missense 0.286 benign 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1423108907 1q21.1 1 146344597C> T null S N 40 40 missense 0.147 benign 0.07 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1170921810 1q21.1 1 146344577G> A null R C 47 47 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1409509172 1q21.1 1 146344576C> T null R H 47 47 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1409509172 1q21.1 1 146344576C> G null R P 47 47 missense 0.029 benign 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1396491028 1q21.1 1 146344561C> A null C F 52 52 missense 0.988 probably damaging 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1319903594 1q21.1 1 146344552C> A null R I 55 55 missense 0.534 possibly damaging 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1319903594 1q21.1 1 146344552C> T null R K 55 55 missense 0.566 possibly damaging 0.02 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1341002015 1q21.1 1 146344511G> A null R C 69 69 missense 0.003 benign 0.48 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1202604864 1q21.1 1 146344510C> T null R H 69 69 missense 0.001 benign 0.57 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1180826581 1q21.1 1 146344495T> C null D G 74 74 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1483304331 1q21.1 1 146344496C> T null D N 74 74 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1429278613 1q21.1 1 146344492T> G null D A 75 75 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1429278613 1q21.1 1 146344492T> C null D G 75 75 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1429278613 1q21.1 1 146344492T> A null D V 75 75 missense 0.063 benign 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1443400754 1q21.1 1 146344493C> A null D Y 75 75 missense 0.488 possibly damaging 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1168640313 1q21.1 1 146344487A> G null S P 77 77 missense 0.337 benign 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1360914409 1q21.1 1 146344478C> G null G R 80 80 missense 0.305 benign 0.13 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1466595367 1q21.1 1 146344475C> G null E Q 81 81 missense 0.842 possibly damaging 0.04 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1302373675 1q21.1 1 146344469A> G null F L 83 83 missense 0.506 possibly damaging 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1297987531 1q21.1 1 146344447C> T null R Q 90 90 missense 0.155 benign 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1364231119 1q21.1 1 146344439T> C null T A 93 93 missense 0.018 benign 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1225667951 1q21.1 1 146344438G> A null T I 93 93 missense 0.112 benign 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1312449758 1q21.1 1 146344436C> A null G C 94 94 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1312449758 1q21.1 1 146344436C> T null G S 94 94 missense 0.734 possibly damaging 0.02 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1208807349 1q21.1 1 146344432G> C null S C 95 95 missense 0.837 possibly damaging 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1253795228 1q21.1 1 146344429C> A null G V 96 96 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1191055821 1q21.1 1 146344416C> T null M I 100 100 missense 0.024 benign 0.02 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1449270438 1q21.1 1 146344414A> G null V A 101 101 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1449270438 1q21.1 1 146344414A> C null V G 101 101 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1427493799 1q21.1 1 146344411T> A null N I 102 102 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1427493799 1q21.1 1 146344411T> C null N S 102 102 missense 0.225 benign 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1434052542 1q21.1 1 146344403G> A null P S 105 105 missense 0.316 benign 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1175434176 1q21.1 1 146344399T> C null N S 106 106 missense 0.647 possibly damaging 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1321164155 1q21.1 1 146344388A> T null S T 110 110 missense 0.928 probably damaging 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1428347239 1q21.1 1 146344380T> A null L F 112 112 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1367848572 1q21.1 1 146344375A> T null I N 114 114 missense 0.893 possibly damaging 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1367848572 1q21.1 1 146344375A> G null I T 114 114 missense 0.936 probably damaging 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1280728181 1q21.1 1 146344355A> G null W R 121 121 missense 0.395 benign 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1330637372 1q21.1 1 146344349C> A null D Y 123 123 missense 0.991 probably damaging 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1269300354 1q21.1 1 146344339T> C null H R 126 126 missense 0.375 benign 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1211077407 1q21.1 1 146344340G> A null H Y 126 126 missense 0.103 benign 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1214087852 1q21.1 1 146344333G> A null A V 128 128 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1248880088 1q21.1 1 146344328C> G null G R 130 130 missense 0.83 possibly damaging 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1488897420 1q21.1 1 146344322C> A null V L 132 132 missense 0.095 benign 0.02 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1190834380 1q21.1 1 146344313G> A null R C 135 135 missense 0.367 benign 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1427241164 1q21.1 1 146344312C> T null R H 135 135 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1473600801 1q21.1 1 146344290C> T null M I 142 142 missense 0.062 benign 0.19 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1160050485 1q21.1 1 146344288T> C null E G 143 143 missense 0.197 benign 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1411139568 1q21.1 1 146344283A> C null F V 145 145 missense 0.22 benign 0.14 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1398937568 1q21.1 1 146344272C> A null R S 148 148 missense 0.698 possibly damaging 0.13 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1325211802 1q21.1 1 146344267C> G null S T 150 150 missense 0.056 benign 0.0 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1350254794 1q21.1 1 146344263C> G null K N 151 151 missense 0.965 probably damaging 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1435255376 1q21.1 1 146344261G> T null T N 152 152 missense 0.149 benign 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1300932721 1q21.1 1 146344257G> T null S R 153 153 missense 0.248 benign 0.02 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1228444360 1q21.1 1 146344240G> A null A V 159 159 missense 0.029 benign 0.03 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1287241266 1q21.1 1 146344237T> C null D G 160 160 missense 0.823 possibly damaging 0.01 deleterious - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1292386947 1q21.1 1 146344224G> C null F L 164 164 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B767 PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H TOPMed rs1350577604 1q21.1 1 146344225A> T null F Y 164 164 missense 0.232 benign 0.01 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1181915955 18q21.33 18 62261628A> G null K E 7 7 missense 0.025 benign 0.09 tolerated - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs778515444 18q21.33 18 62261629A> G null K R 7 7 missense 0.007 benign 0.08 tolerated - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs758204529 18q21.33 18 62261635A> T null H L 9 9 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs758204529 18q21.33 18 62261635A> C null H P 9 9 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs758204529 18q21.33 18 62261635A> G null H R 9 9 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1352593900 18q21.33 18 62261638G> A null G D 10 10 missense 0.017 benign 0.14 tolerated - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1205301376 18q21.33 18 62261654A> G null I M 15 15 missense 0.805 possibly damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75589884 18q21.33 18 62261652A> G null I V 15 15 7.99E-4 missense 0.025 benign 0.38 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs751410965 18q21.33 18 62264001C> T null P L 21 21 missense 0.84 possibly damaging 0.09 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs757028191 18q21.33 18 62264004G> A null R Q 22 22 missense 0.334 benign 0.15 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs535205893 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 18q21.33 18 62264003C> T null R W 22 22 missense 0.913 probably damaging 0.01 deleterious 1 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374810725 18q21.33 18 62264011G> A null M I 24 24 2.0E-4 missense 0.0 benign 0.38 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs780920433 18q21.33 18 62264009A> T null M L 24 24 missense 0.0 benign 0.46 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs780920433 18q21.33 18 62264009A> G null M V 24 24 missense 0.0 benign 0.86 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs768803416 18q21.33 18 62264013C> T null S L 25 25 missense 0.852 possibly damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1269723674 18q21.33 18 62264015C> T null P S 26 26 missense 0.059 benign 0.04 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs771452746 18q21.33 18 62264038T> G null I M 33 33 missense 0.891 possibly damaging 0.05 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs761215171 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62264036A> G null I V 33 33 missense 0.747 possibly damaging 0.07 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1195005136 18q21.33 18 62264040T> C null I T 34 34 missense 0.462 possibly damaging 0.02 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs777067029 18q21.33 18 62264042G> A null G R 35 35 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs759276755 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62264048C> T null R C 37 37 missense 0.886 possibly damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs764785928 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 18q21.33 18 62264049G> A null R H 37 37 missense 0.03 benign 0.09 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs762338964 18q21.33 18 62264059G> C null L F 40 40 missense 0.49 possibly damaging 0.03 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs764146210 18q21.33 18 62264060G> T null A S 41 41 missense 0.02 benign 0.39 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1400268869 18q21.33 18 62264061C> T null A V 41 41 missense 0.06 benign 0.19 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1283211746 18q21.33 18 62264079A> G null Y C 47 47 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1283331105 18q21.33 18 62264078T> C null Y H 47 47 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) Ensembl rs1568401045 18q21.33 18 62264085A> G null Y C 49 49 missense 0.694 possibly damaging 0.09 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) Ensembl rs996603684 18q21.33 18 62264093G> C null E Q 52 52 missense 0.007 benign 0.33 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1438052771 18q21.33 18 62264112G> A null G D 58 58 missense 0.521 possibly damaging 0.05 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1221040976 18q21.33 18 62264130G> A null W * 64 64 stop gained 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1282381248 18q21.33 18 62264132G> A null V I 65 65 missense 0.664 possibly damaging 0.15 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1333610805 18q21.33 18 62264139A> G null N S 67 67 missense 0.917 probably damaging 0.17 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs763547987 18q21.33 18 62264743T> G null I R 74 74 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs763547987 18q21.33 18 62264743T> C null I T 74 74 missense 0.734 possibly damaging 0.24 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs773786049 18q21.33 18 62264748A> G null I V 76 76 missense 0.074 benign 0.42 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1180063887 18q21.33 18 62264755G> A null G D 78 78 missense 0.115 benign 0.11 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) Ensembl rs556365313 18q21.33 18 62264760A> G null I V 80 80 missense 0.005 benign 0.28 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1383029690 18q21.33 18 62264763A> C null N H 81 81 missense 0.062 benign 0.15 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1443125019 18q21.33 18 62264775A> C null T P 85 85 missense 0.007 benign 0.35 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs568940190 18q21.33 18 62264782G> T null C F 87 87 3.99E-4 missense 0.622 possibly damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs767435118 18q21.33 18 62264788A> C null H P 89 89 missense 0.964 probably damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs767435118 18q21.33 18 62264788A> G null H R 89 89 missense 0.236 benign 0.23 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed rs750255898 18q21.33 18 62264802T> A null F I 94 94 missense 0.287 benign 0.03 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed rs750255898 18q21.33 18 62264802T> G null F V 94 94 missense 0.087 benign 0.1 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs755839364 18q21.33 18 62264805T> C null F L 95 95 missense 0.237 benign 0.28 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) Ensembl rs774154780 18q21.33 18 62264810G> T null W C 96 96 missense 0.916 probably damaging 0.18 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1327513368 18q21.33 18 62264811C> T null R C 97 97 missense 0.962 probably damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs766145734 18q21.33 18 62264812G> A null R H 97 97 missense 0.15 benign 0.19 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs766145734 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 18q21.33 18 62264812G> T null R L 97 97 missense 0.184 benign 0.1 tolerated 1 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ESP,ExAC,TOPMed,gnomAD rs369501125 18q21.33 18 62264821G> A null R Q 100 100 missense 0.103 benign 0.16 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1447636772 18q21.33 18 62264820C> T null R W 100 100 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs758579834 18q21.33 18 62264850A> G null K E 110 110 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1268736508 18q21.33 18 62266701G> A null V I 111 111 missense 0.065 benign 0.07 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1200614369 18q21.33 18 62266707C> T null P S 113 113 missense 0.839 possibly damaging 0.08 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs761279230 18q21.33 18 62266710C> T null Q * 114 114 stop gained 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs947852721 18q21.33 18 62266734T> C null S P 122 122 missense 0.007 benign 0.34 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1436306549 18q21.33 18 62266747T> C null I T 126 126 missense 0.026 benign 0.03 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs781372756 18q21.33 18 62268872C> A null S Y 128 128 missense 0.026 benign 0.37 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs750928348 18q21.33 18 62268874T> G null S A 129 129 missense 0.007 benign 0.62 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) Ensembl rs945249046 18q21.33 18 62268881G> A null G E 131 131 missense 0.786 possibly damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1026204572 18q21.33 18 62268884A> G null N S 132 132 missense 0.026 benign 0.07 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1157472862 18q21.33 18 62268886G> T null G W 133 133 missense 0.87 possibly damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs749654324 18q21.33 18 62268902C> G null A G 138 138 missense 0.697 possibly damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1285743757 18q21.33 18 62268907G> A null V I 140 140 missense 0.275 benign 0.26 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1196398048 18q21.33 18 62268911C> G null P R 141 141 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs969815449 18q21.33 18 62268920C> T null A V 144 144 missense 0.835 possibly damaging 0.02 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1265907447 18q21.33 18 62268923C> T null T I 145 145 missense 0.257 benign 0.24 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs771598235 18q21.33 18 62268928G> A null V I 147 147 missense 0.919 probably damaging 0.2 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs772641767 18q21.33 18 62268935C> T null T M 149 149 missense 0.576 possibly damaging 0.06 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs772641767 18q21.33 18 62268935C> G null T R 149 149 missense 0.957 probably damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1158345031 18q21.33 18 62268937T> A null C S 150 150 missense 0.03 benign 0.16 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs776355234 18q21.33 18 62268946C> A null Q K 153 153 missense 0.026 benign 0.06 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1359337774 18q21.33 18 62273986G> A null D N 156 156 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs777203676 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62273990G> A null R Q 157 157 missense 0.964 probably damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs746522623 18q21.33 18 62274002T> C null V A 161 161 missense 0.026 benign 0.3 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,dbSNP,gnomAD rs770815767 cosmic curated [Cosmic]: large_intestine, [UniProt]: a colorectal cancer sample; somatic mutation pubmed:16959974 pubmed:16959974 18q21.33 18 62274005G> A null G E 162 162 missense 0.037 benign 0.14 tolerated 1 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs770815767 18q21.33 18 62274005G> T null G V 162 162 missense 0.138 benign 0.05 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1258786688 18q21.33 18 62274007T> G null F V 163 163 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1156823543 18q21.33 18 62274012A> T null L F 164 164 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs759343103 18q21.33 18 62274013G> A null E K 165 165 missense 0.018 benign 0.66 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1180951109 18q21.33 18 62274018T> G null D E 166 166 missense 0.45 possibly damaging 0.24 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs762143394 18q21.33 18 62274023T> C null M T 168 168 missense 0.063 benign 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,NCI-TCGA,gnomAD rs767841073 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62274026C> T null T M 169 169 missense 0.058 benign 0.12 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs754396869 18q21.33 18 62274043C> T null H Y 175 175 missense 0.013 benign 0.02 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ESP,ExAC,TOPMed,gnomAD rs368985065 18q21.33 18 62274050C> A null P H 177 177 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1359415910 18q21.33 18 62274049C> T null P S 177 177 missense 0.163 benign 0.24 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1357393102 18q21.33 18 62274053T> C null L P 178 178 missense 0.816 possibly damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1315158954 18q21.33 18 62274058A> G null S G 180 180 missense 0.124 benign 0.06 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ESP,ExAC,gnomAD rs371440710 18q21.33 18 62274067G> T null A S 183 183 missense 0.39 benign 0.24 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1399858963 18q21.33 18 62274068C> T null A V 183 183 missense 0.274 benign 0.16 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) Ensembl rs1008317182 18q21.33 18 62274073T> C null F L 185 185 missense 0.248 benign 0.17 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1217576329 18q21.33 18 62274075T> G null F L 185 185 missense 0.248 benign 0.17 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1342395652 18q21.33 18 62274074T> A null F Y 185 185 missense 0.814 possibly damaging 0.09 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs758111542 18q21.33 18 62274076G> A null V M 186 186 missense 0.312 benign 0.02 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs79659632 18q21.33 18 62275375G> T null A S 190 190 missense 0.055 benign 0.22 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ESP,ExAC,TOPMed,gnomAD rs376669611 18q21.33 18 62275395G> C null E D 196 196 missense 0.495 possibly damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1241215267 18q21.33 18 62275412T> C null L S 202 202 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) Ensembl rs979694707 18q21.33 18 62275418A> G null Y C 204 204 missense 0.031 benign 0.14 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed,gnomAD rs1176687771 18q21.33 18 62275423G> A null V I 206 206 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed,gnomAD rs1176687771 18q21.33 18 62275423G> C null V L 206 206 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1290530426 18q21.33 18 62275444G> T null V L 213 213 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs749185612 18q21.33 18 62275450T> A null C S 215 215 missense 0.054 benign 0.43 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs773948333 18q21.33 18 62275463G> A null R K 219 219 missense 0.155 benign 0.21 tolerated 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ESP,ExAC,gnomAD rs372735779 18q21.33 18 62275466T> C null M T 220 220 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1173179461 18q21.33 18 62275477T> C null C R 224 224 missense 0.007 benign 0.06 tolerated - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1194491257 18q21.33 18 62275487T> C null M T 227 227 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1472023696 18q21.33 18 62275486A> G null M V 227 227 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed,gnomAD rs1415197703 18q21.33 18 62275490C> T null P L 228 228 missense 0.0 benign 0.42 tolerated - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1455785735 18q21.33 18 62275489C> T null P S 228 228 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed,gnomAD rs1463516098 18q21.33 18 62275497G> T null L F 230 230 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs776756782 18q21.33 18 62275498G> A null V I 231 231 missense 0.205 benign 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs776756782 18q21.33 18 62275498G> C null V L 231 231 missense 0.205 benign 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs945433180 18q21.33 18 62275504A> G null I V 233 233 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs144971470 18q21.33 18 62275508T> C null I T 234 234 0.001797 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201628969 18q21.33 18 62275507A> G null I V 234 234 5.99E-4 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed,gnomAD rs866257798 18q21.33 18 62275527G> T null L F 240 240 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) Ensembl rs867452236 18q21.33 18 62275526T> G null L W 240 240 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed rs776000835 18q21.33 18 62275528C> T null R * 241 241 stop gained 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed rs776000835 18q21.33 18 62275528C> G null R G 241 241 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs562988046 18q21.33 18 62275529G> A null R Q 241 241 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1276095014 18q21.33 18 62275532G> A null R K 242 242 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs751816402 18q21.33 18 62275534A> G null R G 243 243 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed,gnomAD rs1238464955 18q21.33 18 62275535G> A null R K 243 243 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC rs767076869 18q21.33 18 62275542A> T null E D 245 245 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs116229584 18q21.33 18 62275544T> G null F C 246 246 0.007188 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,gnomAD rs749996889 18q21.33 18 62275543T> A null F I 246 246 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) 1000Genomes,ExAC,gnomAD rs551757409 18q21.33 18 62275545T> A null F L 246 246 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) 1000Genomes,ExAC,gnomAD rs551757409 18q21.33 18 62275545T> G null F L 246 246 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs116229584 18q21.33 18 62275544T> A null F Y 246 246 0.007188 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs754812202 18q21.33 18 62275554A> G null I M 249 249 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed rs1255368572 18q21.33 18 62275556A> G null K R 250 250 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) 1000Genomes,ExAC,gnomAD rs138847150 18q21.33 18 62275559G> A null R K 251 251 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) 1000Genomes,ExAC,gnomAD rs138847150 18q21.33 18 62275559G> T null R M 251 251 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1414168110 18q21.33 18 62275565G> T null C F 253 253 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) gnomAD rs1414168110 18q21.33 18 62275565G> A null C Y 253 253 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) TOPMed,gnomAD rs1334547246 18q21.33 18 62275569A> G null I M 254 254 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B768 RELCH RAB11-binding protein RELCH (Fragment) ExAC,TOPMed,gnomAD rs781369577 18q21.33 18 62275571C> T null S L 255 255 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142976418 16p13.3 16 4614791C> T null V M 3 3 0.003594 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 ExAC,gnomAD rs758940377 16p13.3 16 4614787T> C null N S 4 4 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs934354070 16p13.3 16 4609052G> A null R C 12 12 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs940389239 16p13.3 16 4609051C> T null R H 12 12 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs940389239 16p13.3 16 4609051C> A null R L 12 12 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1354683728 16p13.3 16 4609048C> T null C Y 13 13 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 gnomAD rs1198361927 16p13.3 16 4609046A> G null C R 14 14 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1215573946 16p13.3 16 4609045C> T null C Y 14 14 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1283649271 16p13.3 16 4609038C> A null L F 16 16 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1486598025 16p13.3 16 4609037G> A null Q * 17 17 stop gained 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 gnomAD rs1302413336 16p13.3 16 4609017T> G null E D 23 23 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 1000Genomes,TOPMed,gnomAD rs529088034 16p13.3 16 4609019C> T null E K 23 23 5.99E-4 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs978506888 16p13.3 16 4609012G> A null P L 25 25 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs978506888 16p13.3 16 4609012G> T null P Q 25 25 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs953784951 16p13.3 16 4609009C> T null G E 26 26 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1421484794 16p13.3 16 4609010C> T null G R 26 26 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1028148342 16p13.3 16 4609006A> T null L H 27 27 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1028148342 16p13.3 16 4609006A> G null L P 27 27 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs561306633 16p13.3 16 4608997G> A null P L 30 30 0.002396 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 gnomAD rs1225062452 16p13.3 16 4608998G> A null P S 30 30 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1359074583 16p13.3 16 4608994G> A null P L 31 31 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs1015519866 16p13.3 16 4608992G> A null P S 32 32 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs1015519866 16p13.3 16 4608992G> T null P T 32 32 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 ExAC,TOPMed,gnomAD rs759893817 16p13.3 16 4608986C> T null A T 34 34 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs950771315 16p13.3 16 4608982C> T null C Y 35 35 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1239757405 16p13.3 16 4608980G> C null L V 36 36 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs1466219331 16p13.3 16 4608973C> T null G E 38 38 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 Ensembl rs750285221 16p13.3 16 4608970A> T null L Q 39 39 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1349868832 16p13.3 16 4608968G> A null P S 40 40 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1210577115 16p13.3 16 4608965C> T null A T 41 41 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs767241537 16p13.3 16 4608959G> A null L F 43 43 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs1331038988 16p13.3 16 4608958A> T null L H 43 43 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs1331038988 16p13.3 16 4608958A> C null L R 43 43 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs905943145 16p13.3 16 4608950T> C null T A 46 46 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs1405536989 16p13.3 16 4608946C> T null W * 47 47 stop gained 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs1177435009 16p13.3 16 4608937G> A null P L 50 50 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs895941139 16p13.3 16 4608935G> A null H Y 51 51 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1182961068 16p13.3 16 4608928A> C null L R 53 53 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1401173181 16p13.3 16 4608917G> A null L F 57 57 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1373476948 16p13.3 16 4608905C> T null E K 61 61 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1373476948 16p13.3 16 4608905C> G null E Q 61 61 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed,gnomAD rs1036086502 16p13.3 16 4608900C> G null K N 62 62 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1310349691 16p13.3 16 4608896C> T null E K 64 64 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 1000Genomes rs533087503 16p13.3 16 4608891G> C null F L 65 65 2.0E-4 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 TOPMed rs1229578882 16p13.3 16 4608892A> G null F S 65 65 missense 0.0 unknown 0 A0A075B769 UBALD1 UBA-like domain-containing protein 1 Ensembl rs761585050 16p13.3 16 4608886G> A null T I 67 67 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) Ensembl rs947367274 1p36.23 1 8364821T> C null S G 7 7 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs748034752 1p36.23 1 8364808A> C null F C 11 11 missense 0.997 probably damaging 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1465708836 1p36.23 1 8364809A> G null F L 11 11 missense 0.979 probably damaging 0.15 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs754594118 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 1p36.23 1 8364786C> G null Q H 18 18 missense 0.994 probably damaging 0.0 deleterious - low confidence 1 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs200389770 1p36.23 1 8364770C> G null A P 24 24 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs200389770 1p36.23 1 8364770C> A null A S 24 24 missense 0.904 possibly damaging 0.08 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs767855706 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p36.23 1 8364764G> A null R C 26 26 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377669269 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.23 1 8364763C> T null R H 26 26 missense 0.428 benign 0.24 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,gnomAD rs201919111 1p36.23 1 8364751G> A null T I 30 30 2.0E-4 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,gnomAD rs201919111 1p36.23 1 8364751G> T null T N 30 30 2.0E-4 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs749182064 1p36.23 1 8364255G> A null T I 32 32 missense 0.941 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs780934313 1p36.23 1 8364229G> C null R G 41 41 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs756860476 1p36.23 1 8364228C> T null R Q 41 41 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ESP,ExAC,gnomAD rs367988884 1p36.23 1 8364224C> G null E D 42 42 missense 0.111 benign 0.24 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs778056015 1p36.23 1 8364222T> C null N S 43 43 missense 0.754 possibly damaging 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs758914165 1p36.23 1 8364220T> A null I F 44 44 missense 0.815 possibly damaging 0.05 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1256837751 1p36.23 1 8364217G> T null L M 45 45 missense 0.996 probably damaging 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1395772276 1p36.23 1 8364208T> C null T A 48 48 missense 0.999 probably damaging 0.04 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) Ensembl rs975031977 1p36.23 1 8364204T> G null D A 49 49 missense 0.774 possibly damaging 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs765652960 1p36.23 1 8364205C> T null D N 49 49 missense 0.358 benign 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs753832179 1p36.23 1 8364199G> A null R C 51 51 missense 1.0 probably damaging 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) Ensembl rs868352927 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1p36.23 1 8364198C> T null R H 51 51 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes rs200873679 1p36.23 1 8364192T> C null H R 53 53 2.0E-4 missense 0.824 possibly damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1231271071 1p36.23 1 8364186T> C null K R 55 55 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,dbSNP,gnomAD rs748973740 1p36.23 1 8364178C> A null G C 58 58 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs748973740 1p36.23 1 8364178C> T null G S 58 58 missense 0.997 probably damaging 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs774291054 1p36.23 1 8364175C> T null E K 59 59 missense 0.951 probably damaging 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs764045744 1p36.23 1 8364168G> A null P L 61 61 missense 0.973 probably damaging 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs775545953 1p36.23 1 8364163T> C null I V 63 63 missense 0.111 benign 0.26 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs769583785 1p36.23 1 8364153G> A null P L 66 66 missense 0.941 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1372438049 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 1p36.23 1 8364151C> T null V M 67 67 missense 0.974 probably damaging 0.01 deleterious - low confidence 1 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1460246902 1p36.23 1 8364147T> G null D A 68 68 missense 0.316 benign 0.05 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1460246902 1p36.23 1 8364147T> C null D G 68 68 missense 0.835 possibly damaging 0.05 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs770580574 1p36.23 1 8364148C> T null D N 68 68 missense 0.316 benign 0.05 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1202296862 1p36.23 1 8364144G> A null P L 69 69 missense 0.991 probably damaging 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs777401627 1p36.23 1 8364141G> A null P L 70 70 missense 0.881 possibly damaging 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) Ensembl,dbSNP rs1131691493 1p36.23 1 8364139G> T null P T 71 71 missense 0.444 benign 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC rs199741942 1p36.23 1 8364131C> G null M I 73 73 2.0E-4 missense 0.07 benign 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1315202200 1p36.23 1 8364133T> C null M V 73 73 missense 0.176 benign 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1253597045 1p36.23 1 8364120A> C null V G 77 77 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,gnomAD rs551307965 1p36.23 1 8364121C> T null V I 77 77 2.0E-4 missense 0.766 possibly damaging 0.04 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,gnomAD rs551307965 1p36.23 1 8364121C> G null V L 77 77 2.0E-4 missense 0.952 probably damaging 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,dbSNP,gnomAD rs886196440 [ClinVar]: Inborn genetic diseases 1p36.23 1 8364108T> C null D G 81 81 missense 0.885 possibly damaging 0.08 tolerated - low confidence 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000623986 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1195390546 1p36.23 1 8364109C> T null D N 81 81 missense 0.915 probably damaging 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1195390546 1p36.23 1 8364109C> A null D Y 81 81 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs756256720 1p36.23 1 8364102C> G null G A 83 83 missense 0.171 benign 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs756256720 1p36.23 1 8364102C> A null G V 83 83 missense 0.92 probably damaging 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1338508302 1p36.23 1 8364100G> A null L F 84 84 missense 0.343 benign 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs750730818 1p36.23 1 8364099A> G null L P 84 84 missense 0.144 benign 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1216159282 1p36.23 1 8364089C> A null K N 87 87 missense 0.92 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs767825978 1p36.23 1 8364088G> A null H Y 88 88 missense 0.914 probably damaging 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1048848500 1p36.23 1 8364084C> T null S N 89 89 missense 0.031 benign 0.06 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) Ensembl rs968037532 1p36.23 1 8364081A> G null M T 90 90 missense 0.946 probably damaging 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs770595219 1p36.23 1 8364082T> C null M V 90 90 missense 0.886 possibly damaging 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1454834318 1p36.23 1 8364078C> T null R K 91 91 missense 0.279 benign 0.08 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs765239136 1p36.23 1 8364076T> C null T A 92 92 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1157900037 1p36.23 1 8364072C> T null R Q 93 93 missense 0.996 probably damaging 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs759330952 1p36.23 1 8364073G> A null R W 93 93 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs375547664 1p36.23 1 8364069C> T null R Q 94 94 missense 0.887 possibly damaging 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368217465 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.23 1 8364070G> A null R W 94 94 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1343710947 1p36.23 1 8364066C> A null S I 95 95 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1343710947 1p36.23 1 8364066C> G null S T 95 95 missense 0.888 possibly damaging 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ESP,ExAC,gnomAD rs370987337 1p36.23 1 8364063C> T null R Q 96 96 missense 0.924 probably damaging 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1020428618 1p36.23 1 8364064G> A null R W 96 96 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs771592760 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p36.23 1 8364061C> T null G S 97 97 missense 0.882 possibly damaging 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs749272392 1p36.23 1 8364060C> A null G V 97 97 missense 0.941 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs529517891 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1p36.23 1 8364057G> A null S L 98 98 2.0E-4 missense 0.074 benign 0.02 deleterious - low confidence 1 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ESP,TOPMed,gnomAD rs367627065 1p36.23 1 8364049G> C null P A 101 101 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ESP,TOPMed,gnomAD rs367627065 1p36.23 1 8364049G> A null P S 101 101 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1361813512 1p36.23 1 8364045A> T null L Q 102 102 missense 0.963 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1243427327 1p36.23 1 8364042C> T null G E 103 103 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs199627610 1p36.23 1 8364043C> G null G R 103 103 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs756311499 1p36.23 1 8364036C> G null W S 105 105 missense 0.0 benign 0.71 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1281865359 1p36.23 1 8364033C> A null G V 106 106 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1347872133 1p36.23 1 8364031A> G null S P 107 107 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs750499633 1p36.23 1 8364026C> A null W C 108 108 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1296901111 1p36.23 1 8364028A> G null W R 108 108 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs781593202 1p36.23 1 8364025G> A null Q * 109 109 stop gained 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs374897314 1p36.23 1 8364023T> G null Q H 109 109 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs764871901 1p36.23 1 8364022G> A null L F 110 110 missense 0.0 unknown 0.11 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs759373255 1p36.23 1 8364021A> G null L P 110 110 missense 0.0 unknown 0.21 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs764871901 1p36.23 1 8364022G> C null L V 110 110 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs907235456 1p36.23 1 8364019G> T null L I 111 111 missense 0.578 possibly damaging 0.39 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1434170631 1p36.23 1 8364018A> G null L P 111 111 missense 0.887 possibly damaging 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs753833535 1p36.23 1 8364015T> G null Q P 112 112 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs753833535 1p36.23 1 8364015T> C null Q R 112 112 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1161284579 1p36.23 1 8364010G> C null P A 114 114 missense 0.737 possibly damaging 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ESP,TOPMed,gnomAD rs374768324 1p36.23 1 8364009G> A null P L 114 114 missense 0.856 possibly damaging 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs766285818 1p36.23 1 8364006C> G null G A 115 115 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs546315917 1p36.23 1 8364002C> T null M I 116 116 5.99E-4 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1195923454 1p36.23 1 8363998C> A null G W 118 118 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1427305571 1p36.23 1 8363994C> A null G V 119 119 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs9628991 1p36.23 1 8363979C> G null G A 124 124 0.2468 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs9628991 1p36.23 1 8363979C> T null G E 124 124 0.2468 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1306218525 1p36.23 1 8363973C> T null G E 126 126 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs536976455 1p36.23 1 8363974C> T null G R 126 126 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1306218525 1p36.23 1 8363973C> A null G V 126 126 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs12118524 1p36.23 1 8363969G> T null S R 127 127 0.02756 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs770379740 1p36.23 1 8363968C> T null E K 128 128 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs770379740 1p36.23 1 8363968C> G null E Q 128 128 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1324564558 1p36.23 1 8363967T> A null E V 128 128 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1357665800 1p36.23 1 8363965T> C null S G 129 129 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs191027207 1p36.23 1 8363964C> T null S N 129 129 7.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1291646475 1p36.23 1 8363959C> A null V F 131 131 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1291646475 1p36.23 1 8363959C> T null V I 131 131 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs111814599 1p36.23 1 8363955T> C null Y C 132 132 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs781072614 1p36.23 1 8363956A> C null Y D 132 132 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs111814599 1p36.23 1 8363955T> A null Y F 132 132 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs781072614 1p36.23 1 8363956A> G null Y H 132 132 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1463478003 1p36.23 1 8363951C> G null Q H 133 133 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs757503382 1p36.23 1 8363953G> T null Q K 133 133 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1352628965 1p36.23 1 8363950T> C null T A 134 134 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC rs778046482 1p36.23 1 8363947T> A null K * 135 135 stop gained 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC rs778046482 1p36.23 1 8363947T> C null K E 135 135 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs753603458 1p36.23 1 8363943G> C null S C 136 136 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs753603458 1p36.23 1 8363943G> A null S F 136 136 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1423656943 1p36.23 1 8363937C> T null R K 138 138 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs780268770 1p36.23 1 8363935C> T null G R 139 139 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1422836831 1p36.23 1 8363932C> T null A T 140 140 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed rs766335073 1p36.23 1 8363931G> A null A V 140 140 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1250639447 1p36.23 1 8363922G> A null P L 143 143 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs749950751 1p36.23 1 8363920C> T null E K 144 144 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs912191105 1p36.23 1 8363916G> A null A V 145 145 missense 0.0 unknown 0.05 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1271619257 1p36.23 1 8363913A> G null V A 146 146 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1337370866 1p36.23 1 8363914C> T null V I 146 146 missense 0.0 unknown 0.26 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1483481218 1p36.23 1 8363910G> A null A V 147 147 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,TOPMed,gnomAD rs761371507 1p36.23 1 8363898G> C null A G 151 151 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1444873093 1p36.23 1 8363892T> C null K R 153 153 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) ExAC,gnomAD rs773923687 1p36.23 1 8363889C> T null S N 154 154 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs188150170 1p36.23 1 8363879G> T null F L 157 157 0.004193 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs143536967 1p36.23 1 8363871G> A null S L 160 160 3.99E-4 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1020985907 1p36.23 1 8363872A> T null S T 160 160 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1162466959 1p36.23 1 8363868C> T null R K 161 161 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1457108529 1p36.23 1 8363865C> A null G V 162 162 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1004507350 1p36.23 1 8363862G> T null P H 163 163 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1004507350 1p36.23 1 8363862G> A null P L 163 163 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1004507350 1p36.23 1 8363862G> C null P R 163 163 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1363953078 1p36.23 1 8363863G> T null P T 163 163 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) Ensembl rs1557589667 1p36.23 1 8363860T> C null R G 164 164 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs957563255 1p36.23 1 8363859C> G null R T 164 164 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs886166049 1p36.23 1 8363854C> A null A S 166 166 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1404666283 1p36.23 1 8363845A> C null S A 169 169 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1175741091 1p36.23 1 8363841C> T null G E 170 170 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1238143349 1p36.23 1 8363842C> T null G R 170 170 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,TOPMed,gnomAD rs140027567 1p36.23 1 8363826A> G null L P 175 175 2.0E-4 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,TOPMed,gnomAD rs140027567 1p36.23 1 8363826A> C null L R 175 175 2.0E-4 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1251533098 1p36.23 1 8363821C> A null A S 177 177 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs2289732 1p36.23 1 8363817G> C null S C 178 178 0.2103 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1351751385 1p36.23 1 8363815C> A null G C 179 179 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) Ensembl rs1557589644 1p36.23 1 8363814C> T null G D 179 179 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1249613147 1p36.23 1 8363808A> G null V A 181 181 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1262705009 1p36.23 1 8363809C> A null V L 181 181 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1204183312 1p36.23 1 8363802G> C null A G 183 183 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs907286104 1p36.23 1 8363800G> A null L F 184 184 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs907286104 1p36.23 1 8363800G> T null L I 184 184 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1176413425 1p36.23 1 8363791G> A null P S 187 187 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1469583975 1p36.23 1 8363772A> G null L P 193 193 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1304208795 1p36.23 1 8363769A> G null L P 194 194 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1280923375 1p36.23 1 8363766A> G null L P 195 195 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) 1000Genomes,TOPMed,gnomAD rs146261539 1p36.23 1 8363764C> T null V M 196 196 3.99E-4 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1045707637 1p36.23 1 8363761C> A null V L 197 197 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1005303945 1p36.23 1 8363752G> T null P T 200 200 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs887013940 1p36.23 1 8363731T> G null I L 207 207 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs887013940 1p36.23 1 8363731T> C null I V 207 207 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed rs1410327458 1p36.23 1 8363724T> A null N I 209 209 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs944595693 1p36.23 1 8363720C> A null L F 210 210 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1276613528 1p36.23 1 8363719G> A null Q * 211 211 stop gained 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) TOPMed,gnomAD rs1451124397 1p36.23 1 8363715G> C null A G 212 212 missense 0.0 unknown 0 A0A075B770 RERE Arginine-glutamic acid dipeptide repeats protein (Fragment) gnomAD rs1379177987 1p36.23 1 8363712A> G null L P 213 213 missense 0.0 unknown 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1436946813 19q13.43 19 56391746G> A null L F 3 3 missense 0.01 benign 0.7 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1436946813 19q13.43 19 56391746G> C null L V 3 3 missense 0.109 benign 0.53 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1451788192 19q13.43 19 56390500C> G null G A 4 4 missense 0.355 benign 0.01 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1451788192 19q13.43 19 56390500C> A null G V 4 4 missense 0.206 benign 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes,ExAC,gnomAD rs532605615 19q13.43 19 56390487G> C null F L 8 8 2.0E-4 missense 0.749 possibly damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs553203813 19q13.43 19 56390486T> C null R G 9 9 missense 0.001 benign 0.05 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs769136861 19q13.43 19 56390483C> G null D H 10 10 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1272471475 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.43 19 56390476G> A null A V 12 12 missense 0.206 benign 0.06 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs376251327 19q13.43 19 56390470A> T null V D 14 14 missense 0.003 benign 0.72 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1242282670 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.43 19 56390464G> A null S F 16 16 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs769509346 19q13.43 19 56390448C> G null Q H 21 21 missense 0.277 benign 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 Ensembl rs75614339 19q13.43 19 56390447A> C null W G 22 22 missense 0.058 benign 0.18 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1332186758 19q13.43 19 56390438G> A null P S 25 25 missense 0.977 probably damaging 0.2 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1395851288 19q13.43 19 56390432G> A null Q * 27 27 stop gained 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs745472222 19q13.43 19 56390425T> G null D A 29 29 missense 0.001 benign 0.05 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs371082935 19q13.43 19 56390424A> C null D E 29 29 missense 0.0 benign 0.07 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs903557922 19q13.43 19 56390426C> A null D Y 29 29 missense 0.477 possibly damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1262953592 19q13.43 19 56390421C> G null L F 30 30 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs377653896 19q13.43 19 56390412G> C null D E 33 33 missense 0.333 benign 0.15 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs746507547 19q13.43 19 56390411C> T null V M 34 34 missense 0.781 possibly damaging 0.02 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 Ensembl rs900486481 19q13.43 19 56390403C> A null L F 36 36 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs375385104 19q13.43 19 56390395T> G null Y S 39 39 missense 0.602 possibly damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs778520126 19q13.43 19 56390391G> T null S R 40 40 missense 0.003 benign 0.05 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs756386053 19q13.43 19 56390389T> A null N I 41 41 missense 0.167 benign 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 Ensembl rs1389448577 19q13.43 19 56390377A> C null L R 45 45 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs764588865 19q13.43 19 56390375C> G null G R 46 46 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1457368181 19q13.43 19 56390091C> T null A T 48 48 missense 0.01 benign 0.19 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs776983857 19q13.43 19 56390087A> T null V D 49 49 missense 0.062 benign 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61743722 19q13.43 19 56390088C> T null V I 49 49 0.02656 missense 0.0 benign 1.0 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes rs200712656 19q13.43 19 56390078G> A null P L 52 52 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1291876676 19q13.43 19 56390072A> T null V E 54 54 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1309832627 19q13.43 19 56390073C> T null V M 54 54 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs372873446 19q13.43 19 56390069A> T null I N 55 55 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs372873446 19q13.43 19 56390069A> G null I T 55 55 missense 0.916 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1214333770 19q13.43 19 56390070T> C null I V 55 55 missense 0.219 benign 0.05 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes rs201858600 19q13.43 19 56390064A> G null F L 57 57 missense 0.0 benign 1.0 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 Ensembl rs916944002 19q13.43 19 56390057T> C null E G 59 59 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1210805779 19q13.43 19 56390055G> C null Q E 60 60 missense 0.836 possibly damaging 0.12 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs747642097 19q13.43 19 56390053T> G null Q H 60 60 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes,ExAC,gnomAD rs532688196 19q13.43 19 56390054T> C null Q R 60 60 2.0E-4 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,dbSNP,gnomAD rs369155373 [UniProt]: found in a patient with mild intellectual disability and eye movement disorder; unknown pathological significance pubmed:24123876 pubmed:24123876 19q13.43 19 56390040A> C null W G 65 65 missense 0.854 possibly damaging 0.02 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs768636424 19q13.43 19 56390035C> T null M I 66 66 missense 0.0 benign 0.16 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1228126395 19q13.43 19 56390034C> T null V M 67 67 missense 0.039 benign 0.01 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11883260 19q13.43 19 56390027C> G null R T 69 69 0.007788 missense 0.01 benign 0.01 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs779841700 19q13.43 19 56390021A> G null V A 71 71 missense 0.0 benign 0.84 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs747272431 19q13.43 19 56390009A> G null L P 75 75 missense 0.003 benign 0.26 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs747272431 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 19q13.43 19 56390009A> T null L Q 75 75 missense 0.011 benign 0.51 tolerated 1 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1346427658 19q13.43 19 56390003G> A null P L 77 77 missense 0.476 possibly damaging 0.03 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1352266841 19q13.43 19 56385184A> G null V A 78 78 missense 0.0 benign 0.52 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1413004025 19q13.43 19 56385179C> A null E * 80 80 stop gained 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1001368561 19q13.43 19 56385171T> A null R S 82 82 missense 0.003 benign 0.04 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs774275830 19q13.43 19 56385169du p null Y * 83 83 stop gained 0 A0A075B771 ZNF582 Zinc finger protein 582 Ensembl rs376809330 19q13.43 19 56385166T> A null D V 84 84 missense 0.011 benign 0.03 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC rs199764895 19q13.43 19 56385163G> T null T N 85 85 missense 0.003 benign 0.05 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 Ensembl rs1568784060 19q13.43 19 56385159C> G null K N 86 86 missense 0.0 benign 0.13 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs928642783 19q13.43 19 56385149G> T null P T 90 90 missense 0.003 benign 0.29 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs759328984 19q13.43 19 56385143G> A null Q * 92 92 stop gained 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs776349947 19q13.43 19 56385138A> C null H Q 93 93 missense 0.001 benign 0.08 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs772299567 19q13.43 19 56385137C> T null V I 94 94 missense 0.0 benign 1.0 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs980620550 19q13.43 19 56385133T> C null Y C 95 95 missense 0.0 benign 0.24 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 Ensembl rs971677444 19q13.43 19 56385134A> C null Y D 95 95 missense 0.023 benign 0.04 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs980620550 19q13.43 19 56385133T> A null Y F 95 95 missense 0.0 benign 0.32 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs557432009 19q13.43 19 56385125C> A null E * 98 98 stop gained 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs557432009 19q13.43 19 56385125C> T null E K 98 98 missense 0.0 benign 0.12 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs748357911 19q13.43 19 56385118G> T null P H 100 100 missense 0.541 possibly damaging 0.54 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1488385976 19q13.43 19 56385116G> A null Q * 101 101 stop gained 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1224185881 19q13.43 19 56385112C> T null W * 102 102 stop gained 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs768832897 19q13.43 19 56385106A> G null I T 104 104 missense 0.0 benign 0.05 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1226041183 19q13.43 19 56385103A> G null M T 105 105 missense 0.003 benign 0.09 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs749317794 19q13.43 19 56385100T> C null E G 106 106 missense 0.0 benign 0.13 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1288972926 19q13.43 19 56385098T> C null S G 107 107 missense 0.0 benign 0.47 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1386117109 19q13.43 19 56385097C> T null S N 107 107 missense 0.029 benign 0.45 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1386117109 19q13.43 19 56385097C> G null S T 107 107 missense 0.001 benign 0.45 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367953813 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.43 19 56385095G> T null L I 108 108 missense 0.015 benign 0.16 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1295095221 19q13.43 19 56385094A> G null L P 108 108 missense 0.0 benign 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs986733697 19q13.43 19 56385089T> C null S G 110 110 missense 0.001 benign 0.19 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC rs756624488 19q13.43 19 56385087A> T null S R 110 110 missense 0.005 benign 0.54 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1159094631 19q13.43 19 56385085T> C null Y C 111 111 missense 0.001 benign 0.38 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs746249991 19q13.43 19 56385086A> T null Y N 111 111 missense 0.027 benign 0.1 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs781649927 19q13.43 19 56385082C> T null G D 112 112 missense 0.0 benign 0.76 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1455765393 19q13.43 19 56385073C> A null C F 115 115 missense 0.003 benign 0.69 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs756890746 19q13.43 19 56385074A> G null C R 115 115 missense 0.01 benign 0.35 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1455765393 19q13.43 19 56385073C> T null C Y 115 115 missense 0.0 benign 1.0 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1414246060 19q13.43 19 56385070G> C null S * 116 116 stop gained 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1160520958 19q13.43 19 56385068T> C null S G 117 117 missense 0.0 benign 0.27 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1399788370 19q13.43 19 56385064A> C null F C 118 118 missense 0.431 benign 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1314689648 19q13.43 19 56385065A> C null F V 118 118 missense 0.001 benign 0.09 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1423623794 19q13.43 19 56385058T> C null D G 120 120 missense 0.003 benign 0.13 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1441582466 19q13.43 19 56385059C> T null D N 120 120 missense 0.017 benign 0.13 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1193295704 19q13.43 19 56385053A> C null W G 122 122 missense 0.071 benign 0.02 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes,ExAC,TOPMed,gnomAD rs200719269 19q13.43 19 56385046C> A null C F 124 124 2.0E-4 missense 0.0 benign 0.08 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1375873133 19q13.43 19 56385034A> C null F C 128 128 missense 0.001 benign 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs752134655 19q13.43 19 56385031T> C null D G 129 129 missense 0.011 benign 0.03 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs765170469 19q13.43 19 56385029T> C null R G 130 130 missense 0.0 benign 0.29 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs147243655 19q13.43 19 56385028C> T null R K 130 130 missense 0.001 benign 0.45 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs147243655 19q13.43 19 56385028C> G null R T 130 130 missense 0.027 benign 0.13 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 Ensembl rs1568783827 19q13.43 19 56385025T> C null Q R 131 131 missense 0.001 benign 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1303232659 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22622578,cosmic_study:388 19q13.43 19 56385019C> T null G E 133 133 missense 0.059 benign 0.42 tolerated 1 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1219658756 19q13.43 19 56385014G> A null P S 135 135 missense 0.0 benign 0.28 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1346204416 19q13.43 19 56385009G> C null D E 136 136 missense 0.0 benign 1.0 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1356900375 19q13.43 19 56385010T> C null D G 136 136 missense 0.0 benign 0.2 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149575476 19q13.43 19 56385007C> G null R T 137 137 3.99E-4 missense 0.007 benign 0.34 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs766232351 19q13.43 19 56385005G> C null H D 138 138 missense 0.01 benign 0.05 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed rs760369187 19q13.43 19 56385004T> C null H R 138 138 missense 0.0 benign 0.18 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs766232351 19q13.43 19 56385005G> A null H Y 138 138 missense 0.0 benign 1.0 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1230809407 19q13.43 19 56384997A> T null H Q 140 140 missense 0.01 benign 0.27 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs532568887 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.43 19 56384999G> A null H Y 140 140 2.0E-4 missense 0.01 benign 0.05 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs768759613 19q13.43 19 56384993T> G null M L 142 142 missense 0.0 benign 0.58 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes,TOPMed rs188453850 19q13.43 19 56384992A> G null M T 142 142 2.0E-4 missense 0.018 benign 0.27 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs138147752 19q13.43 19 56384988G> C null I M 143 143 missense 0.018 benign 0.19 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1252108621 19q13.43 19 56384986A> C null I S 144 144 missense 0.003 benign 0.01 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs770448833 19q13.43 19 56384984T> C null R G 145 145 missense 0.0 benign 0.05 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1357929199 19q13.43 19 56384980T> G null H P 146 146 missense 0.0 benign 0.18 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs891897458 19q13.43 19 56384978C> A null E * 147 147 stop gained 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs891897458 19q13.43 19 56384978C> T null E K 147 147 missense 0.028 benign 0.06 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1389917329 19q13.43 19 56384970C> T null M I 149 149 missense 0.0 benign 0.28 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1452367888 19q13.43 19 56384971A> G null M T 149 149 missense 0.0 benign 0.12 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs781755424 19q13.43 19 56384969G> C null P A 150 150 missense 0.015 benign 0.02 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 Ensembl rs866556366 19q13.43 19 56384968G> A null P L 150 150 missense 0.003 benign 0.0 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs781755424 19q13.43 19 56384969G> A null P S 150 150 missense 0.001 benign 0.09 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs757698150 19q13.43 19 56384966T> C null T A 151 151 missense 0.0 benign 0.14 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs747330706 19q13.43 19 56384960C> G null D H 153 153 missense 0.0 benign 0.11 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs757928304 19q13.43 19 56384953T> A null H L 155 155 missense 0.003 benign 0.03 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs757928304 19q13.43 19 56384953T> C null H R 155 155 missense 0.0 benign 0.12 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs777485465 19q13.43 19 56384954G> A null H Y 155 155 missense 0.015 benign 0.05 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1325500946 19q13.43 19 56384951C> A null A S 156 156 missense 0.0 benign 0.13 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 TOPMed rs1369159313 19q13.43 19 56384942T> C null T A 159 159 missense 0.001 benign 0.14 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs752222764 19q13.43 19 56384941G> A null T I 159 159 missense 0.001 benign 0.08 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 Ensembl rs1032988836 19q13.43 19 56384935T> C null Y C 161 161 missense 0.003 benign 0.1 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1477378853 19q13.43 19 56384923T> G null H P 165 165 missense 0.014 benign 0.03 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs764682642 19q13.43 19 56384924G> A null H Y 165 165 missense 0.017 benign 0.22 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1263745375 19q13.43 19 56384915C> G null E Q 168 168 missense 0.143 benign 0.04 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,NCI-TCGA,gnomAD rs753825380 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.43 19 56384909G> A null P S 170 170 missense 0.01 benign 0.4 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs766217194 19q13.43 19 56384904A> C null F L 171 171 missense 0.0 benign 0.1 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1195792111 19q13.43 19 56384905A> G null F S 171 171 missense 0.001 benign 0.14 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes,NCI-TCGA,TOPMed rs201702956 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19q13.43 19 56384902C> G null G A 172 172 2.0E-4 missense 0.003 benign 0.15 tolerated 1 A0A075B771 ZNF582 Zinc finger protein 582 1000Genomes,TOPMed rs201702956 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19q13.43 19 56384902C> T null G E 172 172 2.0E-4 missense 0.0 benign 1.0 tolerated 1 A0A075B771 ZNF582 Zinc finger protein 582 Ensembl rs1555818592 19q13.43 19 56384903C> T null G R 172 172 missense 0.054 benign 0.04 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs772819933 19q13.43 19 56384895A> C null N K 174 174 missense 0.003 benign 1.0 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs764391657 19q13.43 19 56384894T> C null K E 175 175 missense 0.0 benign 1.0 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1167117910 19q13.43 19 56384890C> T null C Y 176 176 missense 0.02 benign 0.04 deleterious 0 A0A075B771 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs763220806 19q13.43 19 56384888T> C null R G 177 177 missense 0.0 benign 0.35 tolerated 0 A0A075B771 ZNF582 Zinc finger protein 582 gnomAD rs1373359293 19q13.43 19 56384883T> G null K N 178 178 missense 0.011 benign 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1436946813 19q13.43 19 56391746G> A null L F 3 3 missense 0.01 benign 0.41 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1436946813 19q13.43 19 56391746G> C null L V 3 3 missense 0.109 benign 0.35 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1451788192 19q13.43 19 56390500C> G null G A 4 4 missense 0.355 benign 0.01 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1451788192 19q13.43 19 56390500C> A null G V 4 4 missense 0.206 benign 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes,ExAC,gnomAD rs532605615 19q13.43 19 56390487G> C null F L 8 8 2.0E-4 missense 0.749 possibly damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs553203813 19q13.43 19 56390486T> C null R G 9 9 missense 0.001 benign 0.05 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs769136861 19q13.43 19 56390483C> G null D H 10 10 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1272471475 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.43 19 56390476G> A null A V 12 12 missense 0.206 benign 0.06 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs376251327 19q13.43 19 56390470A> T null V D 14 14 missense 0.003 benign 0.66 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1242282670 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.43 19 56390464G> A null S F 16 16 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs769509346 19q13.43 19 56390448C> G null Q H 21 21 missense 0.277 benign 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 Ensembl rs75614339 19q13.43 19 56390447A> C null W G 22 22 missense 0.058 benign 0.28 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1332186758 19q13.43 19 56390438G> A null P S 25 25 missense 0.977 probably damaging 0.17 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1395851288 19q13.43 19 56390432G> A null Q * 27 27 stop gained 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs745472222 19q13.43 19 56390425T> G null D A 29 29 missense 0.001 benign 0.05 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs371082935 19q13.43 19 56390424A> C null D E 29 29 missense 0.0 benign 0.09 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs903557922 19q13.43 19 56390426C> A null D Y 29 29 missense 0.477 possibly damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1262953592 19q13.43 19 56390421C> G null L F 30 30 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs377653896 19q13.43 19 56390412G> C null D E 33 33 missense 0.333 benign 0.13 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs746507547 19q13.43 19 56390411C> T null V M 34 34 missense 0.781 possibly damaging 0.03 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 Ensembl rs900486481 19q13.43 19 56390403C> A null L F 36 36 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs375385104 19q13.43 19 56390395T> G null Y S 39 39 missense 0.602 possibly damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs778520126 19q13.43 19 56390391G> T null S R 40 40 missense 0.003 benign 0.05 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs756386053 19q13.43 19 56390389T> A null N I 41 41 missense 0.167 benign 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 Ensembl rs1389448577 19q13.43 19 56390377A> C null L R 45 45 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs764588865 19q13.43 19 56390375C> G null G R 46 46 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1457368181 19q13.43 19 56390091C> T null A T 48 48 missense 0.01 benign 0.18 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs776983857 19q13.43 19 56390087A> T null V D 49 49 missense 0.062 benign 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61743722 19q13.43 19 56390088C> T null V I 49 49 0.02656 missense 0.0 benign 1.0 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes rs200712656 19q13.43 19 56390078G> A null P L 52 52 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1291876676 19q13.43 19 56390072A> T null V E 54 54 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1309832627 19q13.43 19 56390073C> T null V M 54 54 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs372873446 19q13.43 19 56390069A> T null I N 55 55 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs372873446 19q13.43 19 56390069A> G null I T 55 55 missense 0.916 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1214333770 19q13.43 19 56390070T> C null I V 55 55 missense 0.219 benign 0.05 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes rs201858600 19q13.43 19 56390064A> G null F L 57 57 missense 0.0 benign 1.0 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 Ensembl rs916944002 19q13.43 19 56390057T> C null E G 59 59 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1210805779 19q13.43 19 56390055G> C null Q E 60 60 missense 0.836 possibly damaging 0.11 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs747642097 19q13.43 19 56390053T> G null Q H 60 60 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes,ExAC,gnomAD rs532688196 19q13.43 19 56390054T> C null Q R 60 60 2.0E-4 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,dbSNP,gnomAD rs369155373 [UniProt]: found in a patient with mild intellectual disability and eye movement disorder; unknown pathological significance pubmed:24123876 pubmed:24123876 19q13.43 19 56390040A> C null W G 65 65 missense 0.854 possibly damaging 0.02 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs768636424 19q13.43 19 56390035C> T null M I 66 66 missense 0.0 benign 0.16 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1228126395 19q13.43 19 56390034C> T null V M 67 67 missense 0.039 benign 0.01 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11883260 19q13.43 19 56390027C> G null R T 69 69 0.007788 missense 0.01 benign 0.01 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs779841700 19q13.43 19 56390021A> G null V A 71 71 missense 0.0 benign 0.92 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs747272431 19q13.43 19 56390009A> G null L P 75 75 missense 0.003 benign 0.25 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs747272431 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 19q13.43 19 56390009A> T null L Q 75 75 missense 0.011 benign 0.52 tolerated 1 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1346427658 19q13.43 19 56390003G> A null P L 77 77 missense 0.476 possibly damaging 0.03 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1352266841 19q13.43 19 56385184A> G null V A 78 78 missense 0.0 benign 0.52 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1413004025 19q13.43 19 56385179C> A null E * 80 80 stop gained 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1001368561 19q13.43 19 56385171T> A null R S 82 82 missense 0.003 benign 0.05 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs774275830 19q13.43 19 56385169du p null Y * 83 83 stop gained 0 A0A075B772 ZNF582 Zinc finger protein 582 Ensembl rs376809330 19q13.43 19 56385166T> A null D V 84 84 missense 0.011 benign 0.04 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC rs199764895 19q13.43 19 56385163G> T null T N 85 85 missense 0.003 benign 0.06 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 Ensembl rs1568784060 19q13.43 19 56385159C> G null K N 86 86 missense 0.0 benign 0.15 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs928642783 19q13.43 19 56385149G> T null P T 90 90 missense 0.003 benign 0.24 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs759328984 19q13.43 19 56385143G> A null Q * 92 92 stop gained 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs776349947 19q13.43 19 56385138A> C null H Q 93 93 missense 0.001 benign 0.08 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs772299567 19q13.43 19 56385137C> T null V I 94 94 missense 0.0 benign 1.0 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs980620550 19q13.43 19 56385133T> C null Y C 95 95 missense 0.0 benign 0.25 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 Ensembl rs971677444 19q13.43 19 56385134A> C null Y D 95 95 missense 0.023 benign 0.06 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs980620550 19q13.43 19 56385133T> A null Y F 95 95 missense 0.0 benign 0.33 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs557432009 19q13.43 19 56385125C> A null E * 98 98 stop gained 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs557432009 19q13.43 19 56385125C> T null E K 98 98 missense 0.0 benign 0.12 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs748357911 19q13.43 19 56385118G> T null P H 100 100 missense 0.541 possibly damaging 0.54 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1488385976 19q13.43 19 56385116G> A null Q * 101 101 stop gained 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1224185881 19q13.43 19 56385112C> T null W * 102 102 stop gained 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs768832897 19q13.43 19 56385106A> G null I T 104 104 missense 0.0 benign 0.05 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1226041183 19q13.43 19 56385103A> G null M T 105 105 missense 0.003 benign 0.07 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs749317794 19q13.43 19 56385100T> C null E G 106 106 missense 0.0 benign 0.14 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1288972926 19q13.43 19 56385098T> C null S G 107 107 missense 0.0 benign 0.47 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1386117109 19q13.43 19 56385097C> T null S N 107 107 missense 0.029 benign 0.45 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1386117109 19q13.43 19 56385097C> G null S T 107 107 missense 0.001 benign 0.41 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367953813 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.43 19 56385095G> T null L I 108 108 missense 0.015 benign 0.13 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1295095221 19q13.43 19 56385094A> G null L P 108 108 missense 0.0 benign 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs986733697 19q13.43 19 56385089T> C null S G 110 110 missense 0.001 benign 0.21 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC rs756624488 19q13.43 19 56385087A> T null S R 110 110 missense 0.005 benign 0.62 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1159094631 19q13.43 19 56385085T> C null Y C 111 111 missense 0.001 benign 0.37 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs746249991 19q13.43 19 56385086A> T null Y N 111 111 missense 0.027 benign 0.11 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs781649927 19q13.43 19 56385082C> T null G D 112 112 missense 0.0 benign 0.8 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1455765393 19q13.43 19 56385073C> A null C F 115 115 missense 0.003 benign 0.69 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs756890746 19q13.43 19 56385074A> G null C R 115 115 missense 0.01 benign 0.35 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1455765393 19q13.43 19 56385073C> T null C Y 115 115 missense 0.0 benign 1.0 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1414246060 19q13.43 19 56385070G> C null S * 116 116 stop gained 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1160520958 19q13.43 19 56385068T> C null S G 117 117 missense 0.0 benign 0.27 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed,gnomAD rs1399788370 19q13.43 19 56385064A> C null F C 118 118 missense 0.431 benign 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1314689648 19q13.43 19 56385065A> C null F V 118 118 missense 0.001 benign 0.07 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1423623794 19q13.43 19 56385058T> C null D G 120 120 missense 0.003 benign 0.12 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1441582466 19q13.43 19 56385059C> T null D N 120 120 missense 0.017 benign 0.13 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1193295704 19q13.43 19 56385053A> C null W G 122 122 missense 0.071 benign 0.02 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes,ExAC,TOPMed,gnomAD rs200719269 19q13.43 19 56385046C> A null C F 124 124 2.0E-4 missense 0.0 benign 0.08 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1375873133 19q13.43 19 56385034A> C null F C 128 128 missense 0.001 benign 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs752134655 19q13.43 19 56385031T> C null D G 129 129 missense 0.011 benign 0.03 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs765170469 19q13.43 19 56385029T> C null R G 130 130 missense 0.0 benign 0.26 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs147243655 19q13.43 19 56385028C> T null R K 130 130 missense 0.001 benign 0.45 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs147243655 19q13.43 19 56385028C> G null R T 130 130 missense 0.027 benign 0.08 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 Ensembl rs1568783827 19q13.43 19 56385025T> C null Q R 131 131 missense 0.001 benign 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1303232659 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22622578,cosmic_study:388 19q13.43 19 56385019C> T null G E 133 133 missense 0.059 benign 0.36 tolerated 1 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1219658756 19q13.43 19 56385014G> A null P S 135 135 missense 0.0 benign 0.35 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1346204416 19q13.43 19 56385009G> C null D E 136 136 missense 0.0 benign 1.0 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1356900375 19q13.43 19 56385010T> C null D G 136 136 missense 0.0 benign 0.25 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149575476 19q13.43 19 56385007C> G null R T 137 137 3.99E-4 missense 0.007 benign 0.37 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs766232351 19q13.43 19 56385005G> C null H D 138 138 missense 0.01 benign 0.01 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed rs760369187 19q13.43 19 56385004T> C null H R 138 138 missense 0.0 benign 0.14 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs766232351 19q13.43 19 56385005G> A null H Y 138 138 missense 0.0 benign 0.91 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1230809407 19q13.43 19 56384997A> T null H Q 140 140 missense 0.01 benign 0.27 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs532568887 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.43 19 56384999G> A null H Y 140 140 2.0E-4 missense 0.01 benign 0.06 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs768759613 19q13.43 19 56384993T> G null M L 142 142 missense 0.0 benign 0.64 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes,TOPMed rs188453850 19q13.43 19 56384992A> G null M T 142 142 2.0E-4 missense 0.018 benign 0.34 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ESP,ExAC,TOPMed,gnomAD rs138147752 19q13.43 19 56384988G> C null I M 143 143 missense 0.018 benign 0.21 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1252108621 19q13.43 19 56384986A> C null I S 144 144 missense 0.003 benign 0.01 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs770448833 19q13.43 19 56384984T> C null R G 145 145 missense 0.0 benign 0.07 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1357929199 19q13.43 19 56384980T> G null H P 146 146 missense 0.0 benign 0.17 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs891897458 19q13.43 19 56384978C> A null E * 147 147 stop gained 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs891897458 19q13.43 19 56384978C> T null E K 147 147 missense 0.028 benign 0.06 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1389917329 19q13.43 19 56384970C> T null M I 149 149 missense 0.0 benign 0.32 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1452367888 19q13.43 19 56384971A> G null M T 149 149 missense 0.0 benign 0.09 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs781755424 19q13.43 19 56384969G> C null P A 150 150 missense 0.015 benign 0.02 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 Ensembl rs866556366 19q13.43 19 56384968G> A null P L 150 150 missense 0.003 benign 0.0 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs781755424 19q13.43 19 56384969G> A null P S 150 150 missense 0.001 benign 0.08 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs757698150 19q13.43 19 56384966T> C null T A 151 151 missense 0.0 benign 0.16 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs747330706 19q13.43 19 56384960C> G null D H 153 153 missense 0.0 benign 0.11 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs757928304 19q13.43 19 56384953T> A null H L 155 155 missense 0.003 benign 0.03 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs757928304 19q13.43 19 56384953T> C null H R 155 155 missense 0.0 benign 0.13 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs777485465 19q13.43 19 56384954G> A null H Y 155 155 missense 0.015 benign 0.05 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1325500946 19q13.43 19 56384951C> A null A S 156 156 missense 0.0 benign 0.16 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1369159313 19q13.43 19 56384942T> C null T A 159 159 missense 0.001 benign 0.14 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs752222764 19q13.43 19 56384941G> A null T I 159 159 missense 0.001 benign 0.09 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 Ensembl rs1032988836 19q13.43 19 56384935T> C null Y C 161 161 missense 0.003 benign 0.09 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1477378853 19q13.43 19 56384923T> G null H P 165 165 missense 0.014 benign 0.03 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs764682642 19q13.43 19 56384924G> A null H Y 165 165 missense 0.017 benign 0.21 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1263745375 19q13.43 19 56384915C> G null E Q 168 168 missense 0.143 benign 0.05 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,NCI-TCGA,gnomAD rs753825380 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.43 19 56384909G> A null P S 170 170 missense 0.01 benign 0.39 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,TOPMed,gnomAD rs766217194 19q13.43 19 56384904A> C null F L 171 171 missense 0.0 benign 0.15 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1195792111 19q13.43 19 56384905A> G null F S 171 171 missense 0.001 benign 0.17 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes,NCI-TCGA,TOPMed rs201702956 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19q13.43 19 56384902C> G null G A 172 172 2.0E-4 missense 0.003 benign 0.2 tolerated 1 A0A075B772 ZNF582 Zinc finger protein 582 1000Genomes,TOPMed rs201702956 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19q13.43 19 56384902C> T null G E 172 172 2.0E-4 missense 0.0 benign 1.0 tolerated 1 A0A075B772 ZNF582 Zinc finger protein 582 Ensembl rs1555818592 19q13.43 19 56384903C> T null G R 172 172 missense 0.054 benign 0.05 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs772819933 19q13.43 19 56384895A> C null N K 174 174 missense 0.003 benign 1.0 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs764391657 19q13.43 19 56384894T> C null K E 175 175 missense 0.0 benign 1.0 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1167117910 19q13.43 19 56384890C> T null C Y 176 176 missense 0.02 benign 0.09 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 ExAC,gnomAD rs763220806 19q13.43 19 56384888T> C null R G 177 177 missense 0.0 benign 0.33 tolerated 0 A0A075B772 ZNF582 Zinc finger protein 582 gnomAD rs1373359293 19q13.43 19 56384883T> G null K N 178 178 missense 0.011 benign 0.03 deleterious 0 A0A075B772 ZNF582 Zinc finger protein 582 TOPMed rs1319430832 19q13.43 19 56384877G> C null F L 180 180 missense 0.015 benign 0.04 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs769571282 17q12 17 35578014T> C null E G 3 3 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs555313611 17q12 17 35578012G> A null H Y 4 4 missense 0.0 benign 1.0 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1344931108 17q12 17 35578006C> T null A T 6 6 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143621995 17q12 17 35578002T> C null H R 7 7 2.0E-4 missense 0.895 possibly damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs748429704 17q12 17 35577999A> G null F S 8 8 missense 0.006 benign 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs376640934 17q12 17 35577997T> C null T A 9 9 missense 0.311 benign 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,ExAC,gnomAD rs367944383 17q12 17 35577996G> A null T I 9 9 missense 0.814 possibly damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs768791993 17q12 17 35577993G> A null A V 10 10 missense 0.011 benign 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs193253559 [ClinVar]: Peroxisome biogenesis disorder 3A 17q12 17 35577981G> T null A D 14 14 5.99E-4 missense 0.0 benign 0.52 tolerated 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000920088 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ExAC,NCI-TCGA,gnomAD rs200048804 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35577979C> T null D N 15 15 3.99E-4 missense 0.026 benign 0.37 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs979319729 17q12 17 35577976C> T null D N 16 16 missense 0.012 benign 0.34 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,dbSNP,gnomAD rs888633730 [ClinVar]: Infantile Refsum's disease 17q12 17 35577973G> A null Q * 17 17 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000665795 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,dbSNP,gnomAD rs888633730 [ClinVar]: Infantile Refsum's disease 17q12 17 35577973G> A null Q * 17 17 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000665795 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs561976188 17q12 17 35577971C> G null Q H 17 17 missense 0.518 possibly damaging 0.03 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs756528221 17q12 17 35577972T> C null Q R 17 17 missense 0.0 benign 1.0 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs750863211 17q12 17 35577969G> A null P L 18 18 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs756812775 17q12 17 35577967A> G null S P 19 19 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 dbSNP,gnomAD rs727504079 17q12 17 35577963A> G null I T 20 20 missense 0.523 possibly damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs1567731804 17q12 17 35577955C> A null V L 23 23 missense 0.074 benign 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1490000609 17q12 17 35577952C> T null V I 24 24 missense 0.015 benign 0.43 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs752615361 17q12 17 35577948G> T null A E 25 25 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs762591605 17q12 17 35577949C> G null A P 25 25 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,dbSNP,gnomAD rs1238451790 [ClinVar]: Infantile Refsum's disease 17q12 17 35577946_35577953du p null Q R 26 26 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000668380 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,dbSNP,gnomAD rs1238451790 [ClinVar]: Infantile Refsum's disease 17q12 17 35577946_35577953du p null Q R 26 26 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000668380 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1336483300 17q12 17 35577940T> C null S G 28 28 missense 0.966 probably damaging 0.08 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs1567731767 17q12 17 35577936A> C null L * 29 29 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs770777877 17q12 17 35577921C> T null R K 34 34 missense 0.03 benign 0.29 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147530802 [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Infantile Refsum's disease, [UniProt]: benign variant pubmed:19105186 17q12 17 35577920T> A null R S 34 34 0.002196 missense 0.597 possibly damaging 0.01 deleterious 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000989844 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147530802 [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Infantile Refsum's disease, [UniProt]: benign variant pubmed:19105186 17q12 17 35577920T> A null R S 34 34 0.002196 missense 0.597 possibly damaging 0.01 deleterious 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV001082581 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147530802 [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Infantile Refsum's disease, [UniProt]: benign variant pubmed:19105186 17q12 17 35577920T> A null R S 34 34 0.002196 missense 0.597 possibly damaging 0.01 deleterious 0 Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). MIM:614859 pubmed:19105186 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,ExAC,TOPMed,gnomAD rs373559171 17q12 17 35577919G> C null P A 35 35 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs749431588 17q12 17 35577918G> C null P R 35 35 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,ExAC,TOPMed,gnomAD rs373559171 17q12 17 35577919G> T null P T 35 35 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1046635472 17q12 17 35577913G> C null L V 37 37 missense 0.444 benign 0.18 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs780677964 17q12 17 35577906T> A null H L 39 39 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs727504078 17q12 17 35577905A> C null H Q 39 39 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1299962521 17q12 17 35577900A> G null V A 41 41 missense 0.15 benign 0.16 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs746311261 17q12 17 35577591C> T null V I 43 43 missense 0.231 benign 0.19 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs936321326 17q12 17 35577575T> A null N I 48 48 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs771188005 17q12 17 35577569G> A null T I 50 50 missense 0.0 benign 0.06 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs756156620 17q12 17 35577563T> C null Y C 52 52 missense 0.858 possibly damaging 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1451435911 17q12 17 35577561C> T null G S 53 53 missense 0.341 benign 0.04 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs777258588 17q12 17 35577553C> A null L F 55 55 missense 0.018 benign 0.03 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs758005394 17q12 17 35577552A> G null W R 56 56 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1417921861 17q12 17 35577548C> A null R M 57 57 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1167729519 17q12 17 35577544C> A null W C 58 58 missense 0.934 probably damaging 0.11 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs747820399 17q12 17 35577542A> G null F S 59 59 missense 0.716 possibly damaging 0.24 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs778333662 17q12 17 35577540C> A null D Y 60 60 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs754484547 17q12 17 35577536T> G null E A 61 61 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1461033856 17q12 17 35577534T> C null I V 62 62 missense 0.113 benign 0.36 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs766393993 17q12 17 35577527G> A null T I 64 64 missense 0.001 benign 0.32 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs923069079 17q12 17 35577525G> T null L M 65 65 missense 0.636 possibly damaging 0.05 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1345176417 17q12 17 35577519C> A null D Y 67 67 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs750195604 17q12 17 35577516G> T null L I 68 68 missense 0.403 benign 0.06 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs767447750 [ClinVar]: Infantile Refsum's disease 17q12 17 35577507G> A null Q * 71 71 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000666102 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs767447750 [ClinVar]: Infantile Refsum's disease 17q12 17 35577507G> A null Q * 71 71 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000666102 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs996074460 17q12 17 35577500T> C null H R 73 73 missense 0.803 possibly damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs765404768 [ClinVar]: Infantile Refsum's disease 17q12 17 35577496A> T null Y * 74 74 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000670011 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs765404768 [ClinVar]: Infantile Refsum's disease 17q12 17 35577496A> T null Y * 74 74 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000670011 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC rs775861350 17q12 17 35577497T> C null Y C 74 74 missense 0.973 probably damaging 0.08 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1338150524 17q12 17 35577498A> G null Y H 74 74 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1403741973 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35577487T> G null R S 77 77 missense 0.029 benign 0.11 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs759749799 17q12 17 35577485G> A null T I 78 78 missense 0.328 benign 0.29 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs759749799 17q12 17 35577485G> T null T N 78 78 missense 0.604 possibly damaging 0.23 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs776980491 17q12 17 35577483T> C null S G 79 79 missense 0.048 benign 0.52 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs773576922 17q12 17 35577481A> T null S R 79 79 missense 0.972 probably damaging 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs773576922 17q12 17 35577481A> C null S R 79 79 missense 0.972 probably damaging 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs771507228 17q12 17 35577482C> G null S T 79 79 missense 0.911 probably damaging 0.07 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,ExAC,TOPMed,gnomAD rs140611267 17q12 17 35577473A> C null F C 82 82 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs61752099 17q12 17 35577458[3 ] null Y * 87 87 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,ExAC,gnomAD rs145784404 17q12 17 35577457G> C null Y * 87 87 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1195136213 17q12 17 35577455C> G null G A 88 88 missense 0.779 possibly damaging 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1232353549 17q12 17 35577456C> T null G S 88 88 missense 0.161 benign 0.37 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs28936698 [ClinVar]: Peroxisomal biogenesis disorder 3b pubmed:14571262 17q12 17 35577445T> A null R S 91 91 missense 1.0 probably damaging 0.0 deleterious 0 Peroxisomal biogenesis disorder 3b ClinVar:RCV000008220 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs754468289 17q12 17 35577440A> G null V A 93 93 missense 0.007 benign 0.56 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs754468289 17q12 17 35577440A> C null V G 93 93 missense 0.011 benign 0.1 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs748872929 17q12 17 35577436C> T null M I 94 94 missense 0.0 benign 0.31 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1244899717 17q12 17 35577438T> C null M V 94 94 missense 0.0 benign 0.43 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs779465431 17q12 17 35577428G> C null T S 97 97 missense 0.0 benign 0.93 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1221773783 17q12 17 35577429T> A null T S 97 97 missense 0.0 benign 0.93 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs767354075 17q12 17 35577424G> T null H Q 98 98 missense 0.0 benign 0.67 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs750345340 17q12 17 35577426G> A null H Y 98 98 missense 0.042 benign 0.48 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 dbSNP,gnomAD rs1003905752 17q12 17 35577423T> C null K E 99 99 missense 0.017 benign 1.0 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1372883240 17q12 17 35577419G> A null S F 100 100 missense 0.0 benign 0.15 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1316034375 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35577417G> C null Q E 101 101 missense 0.0 benign 1.0 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ExAC,TOPMed,gnomAD rs563487343 17q12 17 35577412T> A null R S 102 102 2.0E-4 missense 0.007 benign 0.31 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1167238113 17q12 17 35577404C> T null S N 105 105 missense 0.003 benign 0.14 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs896128888 17q12 17 35577401G> C null A G 106 106 missense 0.003 benign 0.36 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,ExAC,TOPMed,gnomAD rs371014792 17q12 17 35577399C> G null G R 107 107 missense 0.705 possibly damaging 0.13 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs1567731075 17q12 17 35577396G> A null L F 108 108 missense 0.531 possibly damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1407671721 17q12 17 35577393G> C null P A 109 109 missense 0.113 benign 0.03 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1471127673 17q12 17 35577390T> C null K E 110 110 missense 0.082 benign 0.1 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1056238409 17q12 17 35577387G> A null Q * 111 111 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1056238409 17q12 17 35577387G> C null Q E 111 111 missense 0.0 benign 0.28 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs776731688 [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Infantile Refsum's disease 17q12 17 35577384G> A null Q * 112 112 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000675037 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs776731688 [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Infantile Refsum's disease 17q12 17 35577384G> A null Q * 112 112 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000675037,ClinVar:RCV000679868 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,TOPMed,gnomAD rs376279395 17q12 17 35577383T> C null Q R 112 112 missense 0.023 benign 0.26 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,NCI-TCGA,gnomAD rs766390758 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35577372A> G null S P 116 116 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,dbSNP,gnomAD rs767207001 [ClinVar]: Peroxisome biogenesis disorder 1A (Zellweger), [ClinVar]: Infantile Refsum's disease 17q12 17 35577369T> C null I V 117 117 missense 0.0 benign 0.01 deleterious 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000667830 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,dbSNP,gnomAD rs767207001 [ClinVar]: Peroxisome biogenesis disorder 1A (Zellweger), [ClinVar]: Infantile Refsum's disease 17q12 17 35577369T> C null I V 117 117 missense 0.0 benign 0.01 deleterious 0 Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:214100 pubmed:20301621,ClinVar:RCV000260746 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,dbSNP,gnomAD rs767207001 [ClinVar]: Peroxisome biogenesis disorder 1A (Zellweger), [ClinVar]: Infantile Refsum's disease 17q12 17 35577369T> C null I V 117 117 missense 0.0 benign 0.01 deleterious 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000667830 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1025113717 17q12 17 35577364C> T null M I 118 118 missense 0.003 benign 0.15 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs773708442 17q12 17 35577366T> A null M L 118 118 missense 0.0 benign 1.0 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,dbSNP rs879075660 [ClinVar]: Infantile Refsum's disease, [ClinVar]: Peroxisome biogenesis disorder 3A 17q12 17 35577365A> G null M T 118 118 missense 0.106 benign 0.01 deleterious 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000672165 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,dbSNP rs879075660 [ClinVar]: Infantile Refsum's disease, [ClinVar]: Peroxisome biogenesis disorder 3A 17q12 17 35577365A> G null M T 118 118 missense 0.106 benign 0.01 deleterious 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000371870,ClinVar:RCV000672165 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs773708442 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 17q12 17 35577366T> C null M V 118 118 missense 0.014 benign 0.04 deleterious 1 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1352894174 17q12 17 35577357C> G null V L 121 121 missense 0.458 possibly damaging 0.03 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1281880495 17q12 17 35577350A> G null L P 123 123 missense 0.65 possibly damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1295650008 17q12 17 35577344T> G null Y S 125 125 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs926359179 17q12 17 35577342G> T null L M 126 126 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs768259519 17q12 17 35577327C> A null E * 131 131 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs748918869 17q12 17 35577312T> C null S G 136 136 missense 0.003 benign 0.17 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17852912 17q12 17 35577309G> T null L M 137 137 missense 0.979 probably damaging 0.18 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1269271203 17q12 17 35577305C> T null R K 138 138 missense 0.145 benign 0.25 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs769196917 17q12 17 35577303C> T null E K 139 139 missense 0.846 possibly damaging 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs946528890 17q12 17 35577300C> T null E K 140 140 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs781337837 17q12 17 35577296T> G null D A 141 141 missense 0.084 benign 0.04 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs781337837 17q12 17 35577296T> C null D G 141 141 missense 0.551 possibly damaging 0.21 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1260902616 17q12 17 35577297C> T null D N 141 141 missense 0.652 possibly damaging 0.31 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1358563217 17q12 17 35577292T> G null E D 142 142 missense 0.013 benign 0.82 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs1555549862 17q12 17 35577287_35577289in v null Y * 143 144 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,gnomAD rs369522860 17q12 17 35577290T> C null Y C 143 143 missense 0.915 probably damaging 0.05 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs988442642 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:329,cosmic_study:418 17q12 17 35577287G> C null S C 144 144 missense 0.992 probably damaging 0.01 deleterious 1 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs988442642 17q12 17 35577287G> A null S F 144 144 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs956055423 17q12 17 35577283A> C null I M 145 145 missense 0.938 probably damaging 0.09 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs757097977 cosmic curated [Cosmic]: lung cosmic_study:583 17q12 17 35577285T> C null I V 145 145 missense 0.604 possibly damaging 0.17 tolerated 1 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs751442386 17q12 17 35577280A> C null H Q 146 146 missense 0.033 benign 0.63 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1324878121 17q12 17 35577276G> A null P S 148 148 missense 0.16 benign 0.29 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1202727407 17q12 17 35577272G> A null S F 149 149 missense 0.709 possibly damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138731505 [ClinVar]: Peroxisome biogenesis disorder 3A 17q12 17 35577267G> A null R C 151 151 5.99E-4 missense 0.001 benign 0.19 tolerated 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000970690 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs150186509 [ClinVar]: Peroxisome biogenesis disorder 3A, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35577266C> T null R H 151 151 7.99E-4 missense 0.001 benign 0.57 tolerated 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV001080036 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs1567730898 17q12 17 35577262C> A null W C 152 152 missense 0.263 benign 0.19 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs766411953 17q12 17 35577261T> C null K E 153 153 missense 0.071 benign 0.13 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs1555549855 [ClinVar]: Infantile Refsum's disease 17q12 17 35577258G> A null R * 154 154 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000666724 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs1555549855 [ClinVar]: Infantile Refsum's disease 17q12 17 35577258G> A null R * 154 154 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000666724 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ExAC,TOPMed,gnomAD rs564816937 17q12 17 35577257C> G null R P 154 154 2.0E-4 missense 0.025 benign 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs564816937 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q12 17 35577257C> T null R Q 154 154 2.0E-4 missense 0.007 benign 0.16 tolerated 1 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1170433570 17q12 17 35577253A> C null F L 155 155 missense 0.001 benign 1.0 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1444546690 17q12 17 35577248C> G null R T 157 157 missense 0.945 probably damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1404083282 17q12 17 35577246C> T null A T 158 158 missense 0.674 possibly damaging 0.07 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1042122765 17q12 17 35577230T> C null Y C 163 163 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs903493307 17q12 17 35577231A> G null Y H 163 163 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs974295574 17q12 17 35577228G> C null P A 164 164 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1407673450 17q12 17 35577224A> G null F S 165 165 missense 0.673 possibly damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1327793979 17q12 17 35577212G> A null A V 169 169 missense 0.058 benign 0.14 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes rs202025715 17q12 17 35577204C> A null G * 172 172 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs923109489 17q12 17 35577200C> T null W * 173 173 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs923109489 17q12 17 35577200C> G null W S 173 173 missense 0.021 benign 0.7 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs762340754 17q12 17 35577195G> A null L F 175 175 missense 0.003 benign 0.47 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1190158487 17q12 17 35577192C> T null V I 176 176 missense 0.003 benign 0.69 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs774653352 17q12 17 35577188T> G null Q P 177 177 missense 0.854 possibly damaging 0.18 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs762603832 17q12 17 35577183G> A null L F 179 179 missense 0.498 possibly damaging 0.05 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs61752103 cosmic curated [ClinVar]: Peroxisome biogenesis disorders, Zellweger syndrome spectrum, [ClinVar]: Infantile Refsum's disease, [ClinVar]: Peroxisome biogenesis disorder 3A, [Cosmic]: pancreas, [ClinVar]: Peroxisomal biogenesis disorder 3b, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:15184617,cosmic_study:328,pubmed:9632816,pubmed:9792857 17q12 17 35577180G> A null R * 180 180 missense 1 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000666018 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs61752103 cosmic curated [ClinVar]: Peroxisome biogenesis disorders, Zellweger syndrome spectrum, [ClinVar]: Infantile Refsum's disease, [ClinVar]: Peroxisome biogenesis disorder 3A, [Cosmic]: pancreas, [ClinVar]: Peroxisomal biogenesis disorder 3b, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:15184617,cosmic_study:328,pubmed:9632816,pubmed:9792857 17q12 17 35577180G> A null R * 180 180 missense 1 Peroxisomal biogenesis disorder 3b ClinVar:RCV000032926 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs61752103 cosmic curated [ClinVar]: Peroxisome biogenesis disorders, Zellweger syndrome spectrum, [ClinVar]: Infantile Refsum's disease, [ClinVar]: Peroxisome biogenesis disorder 3A, [Cosmic]: pancreas, [ClinVar]: Peroxisomal biogenesis disorder 3b, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:15184617,cosmic_study:328,pubmed:9632816,pubmed:9792857 17q12 17 35577180G> A null R * 180 180 missense 1 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000008216,ClinVar:RCV000666018 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs61752103 cosmic curated [ClinVar]: Peroxisome biogenesis disorders, Zellweger syndrome spectrum, [ClinVar]: Infantile Refsum's disease, [ClinVar]: Peroxisome biogenesis disorder 3A, [Cosmic]: pancreas, [ClinVar]: Peroxisomal biogenesis disorder 3b, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:15184617,cosmic_study:328,pubmed:9632816,pubmed:9792857 17q12 17 35577180G> A null R * 180 180 missense 1 Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. pubmed:20301621,ClinVar:RCV001193474 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs61752103 17q12 17 35577180G> C null R G 180 180 missense 0.062 benign 0.45 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs745420734 17q12 17 35577179C> G null R P 180 180 missense 0.166 benign 0.3 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,NCI-TCGA,TOPMed,gnomAD rs745420734 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375,cosmic_study:376,cosmic_study:419 17q12 17 35577179C> T null R Q 180 180 missense 0.001 benign 0.56 tolerated 1 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ExAC,TOPMed,gnomAD rs192653658 17q12 17 35577175G> T null Y * 181 181 7.99E-4 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1241662407 17q12 17 35577167C> T null G E 184 184 missense 0.898 possibly damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,ExAC,gnomAD rs373097667 17q12 17 35577155T> G null H P 188 188 missense 0.514 possibly damaging 0.2 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1336163775 17q12 17 35577153G> A null H Y 189 189 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs754082338 17q12 17 35577131G> T null A D 196 196 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,ExAC rs368983576 17q12 17 35577126C> T null V I 198 198 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1474150963 17q12 17 35577123G> C null Q E 199 199 missense 0.007 benign 0.2 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs750539552 17q12 17 35577120G> C null L V 200 200 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs767608984 17q12 17 35577117C> A null G C 201 201 missense 0.005 benign 0.07 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs61752105 [ClinVar]: Infantile Refsum's disease 17q12 17 35577114G> A null R * 202 202 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000666766 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs61752105 [ClinVar]: Infantile Refsum's disease 17q12 17 35577114G> A null R * 202 202 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000666766 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs758225297 17q12 17 35577113C> T null R Q 202 202 missense 0.821 possibly damaging 0.05 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs896156854 17q12 17 35577110A> G null L P 203 203 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs896156854 17q12 17 35577110A> C null L R 203 203 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 dbSNP,gnomAD rs786205502 17q12 17 35577102G> A null Q * 206 206 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs786205502 17q12 17 35577102G> T null Q K 206 206 missense 0.022 benign 0.04 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs61752106 [ClinVar]: Peroxisome biogenesis disorders, Zellweger syndrome spectrum, [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Infantile Refsum's disease 17q12 17 35577093G> A null Q * 209 209 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000671389 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs61752106 [ClinVar]: Peroxisome biogenesis disorders, Zellweger syndrome spectrum, [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Infantile Refsum's disease 17q12 17 35577093G> A null Q * 209 209 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000671389,ClinVar:RCV000819199 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs61752106 [ClinVar]: Peroxisome biogenesis disorders, Zellweger syndrome spectrum, [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Infantile Refsum's disease 17q12 17 35577093G> A null Q * 209 209 stop gained 0 Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. pubmed:20301621,ClinVar:RCV000781711 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs61752106 17q12 17 35577093G> T null Q K 209 209 missense 0.056 benign 0.96 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs763285439 17q12 17 35577090C> G null A P 210 210 missense 0.221 benign 0.29 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs763285439 17q12 17 35577090C> A null A S 210 210 missense 0.001 benign 0.78 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs763285439 17q12 17 35577090C> T null A T 210 210 missense 0.04 benign 0.61 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ExAC,TOPMed,gnomAD rs187265849 17q12 17 35577083T> C null E G 212 212 7.99E-4 missense 0.171 benign 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1405118353 17q12 17 35577068T> G null K T 217 217 missense 0.0 benign 0.58 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP rs376571044 17q12 17 35577066C> T null A T 218 218 missense 0.003 benign 0.52 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,dbSNP rs773891359 17q12 17 35577063T> C null S G 219 219 missense 0.003 benign 0.42 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs764839291 17q12 17 35577057T> C null M V 221 221 missense 0.0 benign 0.6 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs1555549841 [ClinVar]: Infantile Refsum's disease 17q12 17 35577054G> A null Q * 222 222 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000668008 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs1555549841 [ClinVar]: Infantile Refsum's disease 17q12 17 35577054G> A null Q * 222 222 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000668008 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs776230088 17q12 17 35577049T> A null Q H 223 223 missense 0.0 benign 0.4 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs984673169 17q12 17 35577047G> C null P R 224 224 missense 0.23 benign 0.05 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs1567730622 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35577042T> C null R G 226 226 missense 0.0 benign 0.42 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1428801230 17q12 17 35577038C> T null S N 227 227 missense 0.212 benign 0.03 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1428801230 17q12 17 35577038C> G null S T 227 227 missense 0.332 benign 0.15 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1406586243 17q12 17 35576176C> T null S N 229 229 missense 0.001 benign 0.5 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,dbSNP rs968180697 17q12 17 35576174C> T null E K 230 230 missense 0.0 benign 0.72 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs104894616 [ClinVar]: Peroxisome biogenesis disorder 3A pubmed:9354782 17q12 17 35576171T> A null K * 231 231 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000008215 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1406752559 17q12 17 35576161G> A null S L 234 234 missense 0.001 benign 0.65 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs765654384 17q12 17 35576158G> A null A V 235 235 missense 0.0 benign 0.6 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs980992759 17q12 17 35576144C> T null V I 240 240 missense 0.003 benign 0.24 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139417458 17q12 17 35576140C> T null G E 241 241 3.99E-4 missense 0.825 possibly damaging 0.1 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139417458 [ClinVar]: Peroxisome biogenesis disorder 3A 17q12 17 35576140C> A null G V 241 241 3.99E-4 missense 0.299 benign 0.03 deleterious 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV001083308 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs965759382 17q12 17 35576137C> G null G A 242 242 missense 0.087 benign 0.43 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs765982515 17q12 17 35576138C> T null G S 242 242 missense 0.306 benign 0.29 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12941376 [ClinVar]: Peroxisome biogenesis disorder 3A pubmed:19105186 17q12 17 35576129A> T null L I 245 245 0.009984 missense 0.001 benign 0.31 tolerated 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000974679 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1364396743 17q12 17 35576128A> G null L S 245 245 missense 0.013 benign 0.06 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs773175740 17q12 17 35576126A> G null S P 246 246 missense 0.355 benign 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200413804 [ClinVar]: Infantile Refsum's disease 17q12 17 35576125G> T null S Y 246 246 2.0E-4 missense 0.299 benign 0.0 deleterious 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000765347 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200413804 [ClinVar]: Infantile Refsum's disease 17q12 17 35576125G> T null S Y 246 246 2.0E-4 missense 0.299 benign 0.0 deleterious 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000765347 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1204653593 17q12 17 35576122A> G null L P 247 247 missense 0.908 possibly damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 dbSNP,gnomAD rs1030736075 17q12 17 35576123G> C null L V 247 247 missense 0.036 benign 0.17 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1270061036 17q12 17 35576120A> G null S P 248 248 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,ExAC,TOPMed,gnomAD rs371597789 17q12 17 35576117T> C null T A 249 249 missense 0.366 benign 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs773962549 17q12 17 35576104A> G null V A 253 253 missense 0.45 possibly damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs768447498 17q12 17 35576102C> G null G R 254 254 missense 0.924 probably damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,dbSNP,gnomAD rs746089337 17q12 17 35576099C> T null V I 255 255 missense 0.935 probably damaging 0.11 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs757306012 17q12 17 35576081G> A null L F 261 261 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,dbSNP,gnomAD rs747099919 [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Infantile Refsum's disease 17q12 17 35576073C> T null W * 263 263 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000666647 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,dbSNP,gnomAD rs747099919 [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Infantile Refsum's disease 17q12 17 35576073C> T null W * 263 263 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000666647,ClinVar:RCV001237704 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs1567729830 17q12 17 35576071C> T null W * 264 264 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,ExAC,TOPMed,gnomAD rs142726996 17q12 17 35576069A> G null Y H 265 265 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs758784930 17q12 17 35576066A> C null S A 266 266 missense 0.815 possibly damaging 0.21 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1443972910 17q12 17 35576065G> A null S L 266 266 missense 0.776 possibly damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1401183237 17q12 17 35576058T> G null E D 268 268 missense 0.161 benign 0.23 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,dbSNP,gnomAD rs569741823 17q12 17 35576051C> T null E K 271 271 missense 0.034 benign 0.44 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs569741823 17q12 17 35576051C> G null E Q 271 271 missense 0.05 benign 0.43 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1192800930 17q12 17 35576045T> C null I V 273 273 missense 0.003 benign 0.98 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1249994630 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35576035A> G null L S 276 276 missense 0.55 possibly damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes rs202159096 17q12 17 35576033T> C null T A 277 277 missense 0.182 benign 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1398163895 17q12 17 35576032G> A null T I 277 277 missense 0.321 benign 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1201778660 17q12 17 35576030C> T null A T 278 278 missense 0.127 benign 0.06 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1279175625 17q12 17 35576018G> A null P S 282 282 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs753527027 17q12 17 35576015G> A null P S 283 283 missense 0.397 benign 0.06 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs766182813 17q12 17 35576006C> T null V I 286 286 missense 0.001 benign 0.46 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs1567729754 17q12 17 35575993T> C null Y C 290 290 missense 0.416 benign 0.11 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs749859287 17q12 17 35575990T> G null N T 291 291 missense 0.062 benign 0.47 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs767070181 17q12 17 35575978G> A null P L 295 295 missense 0.039 benign 0.43 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs761590834 17q12 17 35575976G> A null L F 296 296 missense 0.467 possibly damaging 0.08 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs761590834 17q12 17 35575976G> C null L V 296 296 missense 0.011 benign 0.32 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC rs768427035 17q12 17 35575972A> T null L * 297 297 stop gained 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs774415243 17q12 17 35575973A> C null L V 297 297 missense 0.057 benign 0.22 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs762789314 17q12 17 35575969G> A null P L 298 298 missense 0.007 benign 0.04 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs776806092 17q12 17 35575963A> G null M T 300 300 missense 0.007 benign 0.76 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ExAC,TOPMed,gnomAD rs145574816 17q12 17 35575959C> G null K N 301 301 2.0E-4 missense 0.003 benign 0.25 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ExAC,TOPMed,gnomAD rs373860467 17q12 17 35575957G> A null T I 302 302 2.0E-4 missense 0.476 possibly damaging 0.03 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ExAC,TOPMed,gnomAD rs373860467 17q12 17 35575957G> C null T S 302 302 2.0E-4 missense 0.088 benign 0.44 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs777654572 17q12 17 35575955C> G null V L 303 303 missense 0.003 benign 0.38 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs777654572 17q12 17 35575955C> T null V M 303 303 missense 0.497 possibly damaging 0.1 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1444133628 17q12 17 35575949G> C null P A 305 305 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs779617735 17q12 17 35575940G> A null R C 308 308 missense 0.011 benign 0.06 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs755371958 17q12 17 35575939C> T null R H 308 308 missense 0.003 benign 0.34 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs780595864 17q12 17 35575930C> T null R Q 311 311 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ESP,ExAC,TOPMed,dbSNP,gnomAD rs373666248 17q12 17 35575931G> A null R W 311 311 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs76127905 17q12 17 35575928C> G null V L 312 312 missense 0.127 benign 0.14 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1366482320 17q12 17 35575922C> G null D H 314 314 missense 0.862 possibly damaging 0.12 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1297202049 17q12 17 35575915A> C null V G 316 316 missense 0.202 benign 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs750097322 17q12 17 35575916C> G null V L 316 316 missense 0.106 benign 0.06 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs61752112 [ClinVar]: Infantile Refsum's disease, [ClinVar]: Peroxisomal biogenesis disorder 3b pubmed:15184617,pubmed:2122101 17q12 17 35575913G> A null L F 317 317 missense 0.999 probably damaging 0.0 deleterious 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000675048 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs61752112 [ClinVar]: Infantile Refsum's disease, [ClinVar]: Peroxisomal biogenesis disorder 3b pubmed:15184617,pubmed:2122101 17q12 17 35575913G> A null L F 317 317 missense 0.999 probably damaging 0.0 deleterious 0 Peroxisomal biogenesis disorder 3b ClinVar:RCV000008221 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl,dbSNP rs61752112 [ClinVar]: Infantile Refsum's disease, [ClinVar]: Peroxisomal biogenesis disorder 3b pubmed:15184617,pubmed:2122101 17q12 17 35575913G> A null L F 317 317 missense 0.999 probably damaging 0.0 deleterious 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000675048 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs766933745 17q12 17 35575909G> A null A V 318 318 missense 0.113 benign 0.11 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 dbSNP,gnomAD rs28936697 [UniProt]: attenuates interaction with PEX10 and decreases peroxisomal protein import, [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Peroxisomal biogenesis disorder 3b pubmed:10562279,pubmed:19105186 pubmed:12032265,pubmed:15241794 17q12 17 35575903G> A null S F 320 320 missense 0.999 probably damaging 0.0 deleterious 0 Peroxisomal biogenesis disorder 3b ClinVar:RCV000008217 A0A075B773 PEX12 Peroxisome assembly protein 12 dbSNP,gnomAD rs28936697 [UniProt]: attenuates interaction with PEX10 and decreases peroxisomal protein import, [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Peroxisomal biogenesis disorder 3b pubmed:10562279,pubmed:19105186 pubmed:12032265,pubmed:15241794 17q12 17 35575903G> A null S F 320 320 missense 0.999 probably damaging 0.0 deleterious 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000625796 A0A075B773 PEX12 Peroxisome assembly protein 12 dbSNP,gnomAD rs28936697 [UniProt]: attenuates interaction with PEX10 and decreases peroxisomal protein import, [ClinVar]: Peroxisome biogenesis disorder 3A, [ClinVar]: Peroxisomal biogenesis disorder 3b pubmed:10562279,pubmed:19105186 pubmed:12032265,pubmed:15241794 17q12 17 35575903G> A null S F 320 320 missense 0.999 probably damaging 0.0 deleterious 0 Peroxisome biogenesis disorder 3B (PBD3B) A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. MIM:266510 pubmed:10562279,pubmed:19105186 A0A075B773 PEX12 Peroxisome assembly protein 12 dbSNP,gnomAD rs941358133 [ClinVar]: Infantile Refsum's disease 17q12 17 35575884G> T null Y * 326 326 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000667563 A0A075B773 PEX12 Peroxisome assembly protein 12 dbSNP,gnomAD rs941358133 [ClinVar]: Infantile Refsum's disease 17q12 17 35575884G> T null Y * 326 326 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000667563 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1404979221 17q12 17 35575886A> T null Y N 326 326 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs751429784 17q12 17 35575883G> A null R C 327 327 missense 0.891 possibly damaging 0.02 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs557834416 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35575882C> T null R H 327 327 3.99E-4 missense 0.891 possibly damaging 0.07 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1281789493 17q12 17 35575872A> C null F L 330 330 missense 0.014 benign 0.08 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1182664646 17q12 17 35575869A> T null H Q 331 331 missense 0.0 benign 0.6 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1483942313 17q12 17 35575868A> G null Y H 332 332 missense 0.985 probably damaging 0.12 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,gnomAD rs762912502 17q12 17 35575865C> A null V L 333 333 missense 0.663 possibly damaging 0.09 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1321937282 17q12 17 35575859T> G null S R 335 335 missense 0.0 benign 0.54 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1291823697 17q12 17 35575854G> T null H Q 336 336 missense 0.578 possibly damaging 0.05 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,dbSNP,gnomAD rs760739894 [ClinVar]: Infantile Refsum's disease 17q12 17 35575853G> A null Q * 337 337 stop gained 0 Infantile Refsum's disease (IRD) Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. MIM:266510 pubmed:20301621,ClinVar:RCV000674819 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,dbSNP,gnomAD rs760739894 [ClinVar]: Infantile Refsum's disease 17q12 17 35575853G> A null Q * 337 337 stop gained 0 Peroxisome biogenesis disorder 3A (PBD3A) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. MIM:614859 ClinVar:RCV000674819 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs760739894 17q12 17 35575853G> T null Q K 337 337 missense 0.034 benign 0.47 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs772028045 17q12 17 35575841T> A null I F 341 341 missense 0.23 benign 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1288323994 17q12 17 35575839G> C null I M 341 341 missense 0.034 benign 0.1 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 ExAC,TOPMed,gnomAD rs772028045 17q12 17 35575841T> C null I V 341 341 missense 0.001 benign 1.0 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1438187271 17q12 17 35575837G> A null T I 342 342 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1410938416 17q12 17 35575831T> A null Y F 344 344 missense 0.879 possibly damaging 0.17 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 gnomAD rs1301660172 17q12 17 35575823C> T null E K 347 347 missense 0.549 possibly damaging 0.12 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed,gnomAD rs1457603950 17q12 17 35575812A> T null H Q 350 350 missense 0.963 probably damaging 0.13 tolerated 0 A0A075B773 PEX12 Peroxisome assembly protein 12 Ensembl rs928085463 17q12 17 35575802G> A null L F 354 354 missense 0.873 possibly damaging 0.01 deleterious 0 A0A075B773 PEX12 Peroxisome assembly protein 12 TOPMed rs1438983691 17q12 17 35575795G> A null S F 356 356 missense 0.621 possibly damaging 0.05 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs982559760 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68929107G> A null S F 4 4 missense 0.024 benign 0.2 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1180472941 17q24.2 17 68929101T> G null E A 6 6 missense 0.169 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs199610172 17q24.2 17 68929098C> T null W * 7 7 3.99E-4 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs951254854 17q24.2 17 68929097C> A null W C 7 7 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1277904170 17q24.2 17 68929093A> C null L V 9 9 missense 0.854 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs200428763 17q24.2 17 68929090T> C null S G 10 10 2.0E-4 missense 0.015 benign 0.57 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs147035333 17q24.2 17 68929089C> G null S T 10 10 missense 0.419 benign 0.08 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1205771075 17q24.2 17 68929086A> G null L S 11 11 missense 0.761 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs752078070 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 17q24.2 17 68929066T> G null M L 18 18 missense 0.0 benign 0.06 tolerated 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs995927553 17q24.2 17 68929065A> G null M T 18 18 missense 0.0 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs752078070 17q24.2 17 68929066T> C null M V 18 18 missense 0.001 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs749965577 17q24.2 17 68929055C> T null M I 21 21 missense 0.059 benign 0.6 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs757966736 17q24.2 17 68929056A> T null M K 21 21 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs757966736 17q24.2 17 68929056A> C null M R 21 21 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs764889029 17q24.2 17 68929054C> G null A P 22 22 missense 0.851 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1038046751 17q24.2 17 68929053G> A null A V 22 22 missense 0.041 benign 0.09 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1375018587 17q24.2 17 68929051G> A null Q * 23 23 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1029613407 17q24.2 17 68928048A> G null Y H 29 29 missense 0.222 benign 0.14 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1266016191 17q24.2 17 68928045C> T null D N 30 30 missense 0.465 possibly damaging 0.45 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs541728939 17q24.2 17 68928023G> A null P L 37 37 missense 0.018 benign 0.32 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1567869290 17q24.2 17 68928018G> T null P T 39 39 missense 0.073 benign 0.13 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143566631 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68928014G> A null S L 40 40 missense 0.029 benign 0.27 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1239977417 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68928012C> T null D N 41 41 missense 0.003 benign 0.44 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs773303250 17q24.2 17 68928009C> A null G C 42 42 missense 0.036 benign 0.07 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs773303250 17q24.2 17 68928009C> T null G S 42 42 missense 0.003 benign 0.25 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1384029621 17q24.2 17 68928006A> G null S P 43 43 missense 0.024 benign 0.3 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs769729696 17q24.2 17 68928000G> A null L F 45 45 missense 0.029 benign 0.4 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs776975207 17q24.2 17 68927996A> G null I T 46 46 missense 0.152 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1289852390 17q24.2 17 68927987G> T null T K 49 49 missense 0.662 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs569433826 17q24.2 17 68927985T> C null N D 50 50 2.0E-4 missense 0.003 benign 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs994791007 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68927980G> T null F L 51 51 missense 0.238 benign 0.18 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1470001747 17q24.2 17 68927979T> C null M V 52 52 missense 0.011 benign 0.1 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs766482508 17q24.2 17 68927963G> A null T I 57 57 missense 0.007 benign 0.21 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs746333534 17q24.2 17 68927949C> A null A S 62 62 missense 0.287 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs756168088 17q24.2 17 68927948G> A null A V 62 62 missense 0.018 benign 0.62 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35621847 pubmed:15489334 17q24.2 17 68927942G> A null A V 64 64 0.03954 missense 0.005 benign 0.06 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs777342052 17q24.2 17 68927937A> G null Y H 66 66 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77734018 17q24.2 17 68927933A> G null F S 67 67 0.01098 missense 0.92 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1277673631 17q24.2 17 68927925T> G null I L 70 70 missense 0.041 benign 0.05 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1217297006 17q24.2 17 68927924A> T null I N 70 70 missense 0.94 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1385710830 17q24.2 17 68927920C> G null L F 71 71 missense 0.315 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1385710830 17q24.2 17 68927920C> A null L F 71 71 missense 0.315 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs767244828 17q24.2 17 68927919G> A null P S 72 72 missense 0.251 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs201344087 17q24.2 17 68927916T> A null N Y 73 73 2.0E-4 missense 0.567 possibly damaging 0.58 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1445450400 17q24.2 17 68924857T> C null H R 77 77 missense 0.005 benign 0.44 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368751441 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q24.2 17 68924855G> A null R * 78 78 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs146439029 17q24.2 17 68924854C> A null R L 78 78 missense 0.389 benign 0.09 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146439029 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68924854C> T null R Q 78 78 missense 0.013 benign 0.45 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149873456 17q24.2 17 68924852G> A null R C 79 79 7.99E-4 missense 0.013 benign 0.15 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149873456 17q24.2 17 68924852G> C null R G 79 79 7.99E-4 missense 0.168 benign 0.23 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,NCI-TCGA,TOPMed,gnomAD rs139423903 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68924851C> T null R H 79 79 missense 0.001 benign 0.61 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1251357502 17q24.2 17 68924849G> A null P S 80 80 missense 0.0 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1567866620 17q24.2 17 68924845G> A null P L 81 81 missense 0.299 benign 0.11 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1209721076 17q24.2 17 68924841C> A null L F 82 82 missense 0.222 benign 0.2 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374748200 17q24.2 17 68924836A> G null F S 84 84 missense 0.949 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1433798821 17q24.2 17 68924828A> G null S P 87 87 missense 0.073 benign 0.55 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs538572229 17q24.2 17 68924821A> G null F S 89 89 2.0E-4 missense 0.477 possibly damaging 0.27 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1359706643 17q24.2 17 68924817C> A null W C 90 90 missense 0.238 benign 0.18 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1208455051 17q24.2 17 68924813G> C null Q E 92 92 missense 0.287 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs780700539 17q24.2 17 68924812T> G null Q P 92 92 missense 0.02 benign 0.07 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1336966231 17q24.2 17 68924806T> C null Q R 94 94 missense 0.012 benign 0.93 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,NCI-TCGA,gnomAD rs746721593 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68924792C> T null V M 99 99 missense 0.14 benign 0.17 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs765108435 17q24.2 17 68924768C> G null A P 107 107 missense 0.0 benign 0.56 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370110491 [NCI-TCGA]: Variant assessed as Somatic; impact. 17q24.2 17 68924765C> T null D N 108 108 missense 0.02 benign 0.22 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,gnomAD rs376181381 17q24.2 17 68924762G> A null P S 109 109 missense 0.021 benign 0.33 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs750366754 17q24.2 17 68924759A> G null S P 110 110 missense 0.044 benign 0.33 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs765327188 17q24.2 17 68924756A> G null F L 111 111 missense 0.0 benign 0.7 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,TOPMed,gnomAD rs142411520 17q24.2 17 68924752T> C null H R 112 112 missense 0.0 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138315138 17q24.2 17 68924734G> T null A E 118 118 2.0E-4 missense 0.219 benign 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138315138 17q24.2 17 68924734G> A null A V 118 118 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs759827853 17q24.2 17 68924731G> A null P L 119 119 missense 0.03 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1271770087 17q24.2 17 68924732G> A null P S 119 119 missense 0.01 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs774537964 17q24.2 17 68924729G> A null P S 120 120 missense 0.177 benign 0.11 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs966409816 17q24.2 17 68924725T> G null E A 121 121 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1282624584 17q24.2 17 68924723A> C null F V 122 122 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1221677419 17q24.2 17 68924720G> A null Q * 123 123 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs147273004 17q24.2 17 68924716C> T null G E 124 124 missense 0.774 possibly damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1352449489 17q24.2 17 68924717C> G null G R 124 124 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs545438229 17q24.2 17 68924707G> T null A D 127 127 2.0E-4 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs545438229 17q24.2 17 68924707G> C null A G 127 127 2.0E-4 missense 0.324 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1343101396 17q24.2 17 68924708C> T null A T 127 127 missense 0.455 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs545438229 17q24.2 17 68924707G> A null A V 127 127 2.0E-4 missense 0.324 benign 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377485946 17q24.2 17 68924705T> A null I F 128 128 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1465544665 17q24.2 17 68922299T> G null I L 130 130 missense 0.324 benign 0.33 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs766644309 17q24.2 17 68922292T> C null N S 132 132 missense 0.176 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1315916275 17q24.2 17 68922290C> A null V F 133 133 missense 0.766 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs750786410 17q24.2 17 68922286G> A null T I 134 134 missense 0.116 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs750786410 17q24.2 17 68922286G> T null T K 134 134 missense 0.014 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs765671688 17q24.2 17 68922280T> C null E G 136 136 missense 0.7 possibly damaging 0.08 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs867145863 17q24.2 17 68922281C> T null E K 136 136 missense 0.176 benign 0.22 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl,dbSNP rs12150510 17q24.2 17 68922277T> A null Y F 137 137 missense 0.287 benign 0.07 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs561976098 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68922266G> A null P S 141 141 2.0E-4 missense 0.009 benign 0.88 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs760164538 17q24.2 17 68922261A> T null D E 142 142 missense 0.0 benign 0.9 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs768192995 17q24.2 17 68922263C> T null D N 142 142 missense 0.003 benign 0.28 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1567864027 17q24.2 17 68922261_68922264du p null K * 143 143 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed rs775281074 17q24.2 17 68922260T> C null K E 143 143 missense 0.158 benign 0.05 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs771859504 17q24.2 17 68922256A> T null I K 144 144 missense 0.019 benign 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,TOPMed rs138385384 17q24.2 17 68922255T> C null I M 144 144 missense 0.09 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs778874792 17q24.2 17 68922254C> T null E K 145 145 missense 0.168 benign 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs778874792 17q24.2 17 68922254C> G null E Q 145 145 missense 0.392 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs200496485 17q24.2 17 68922250G> C null A G 146 146 2.0E-4 missense 0.767 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs867614728 17q24.2 17 68922251C> T null A T 146 146 missense 0.109 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs777619731 17q24.2 17 68922246C> A null L F 147 147 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1173102999 17q24.2 17 68922247A> G null L S 147 147 missense 0.701 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs755071896 17q24.2 17 68922242C> T null D N 149 149 missense 0.102 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs923188922 17q24.2 17 68921486A> G null V A 151 151 missense 0.005 benign 0.51 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs202079991 17q24.2 17 68921472C> T null E K 156 156 2.0E-4 missense 0.408 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs199983451 17q24.2 17 68921468C> T null G D 157 157 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1567863023 17q24.2 17 68921469C> T null G S 157 157 missense 0.993 probably damaging 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs199983451 17q24.2 17 68921468C> A null G V 157 157 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs573486960 17q24.2 17 68921460T> C null T A 160 160 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs573486960 17q24.2 17 68921460T> G null T P 160 160 2.0E-4 missense 0.848 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs772895868 17q24.2 17 68921457C> T null A T 161 161 missense 0.669 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs769722688 17q24.2 17 68921452T> C null I M 162 162 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs776589114 17q24.2 17 68921451G> A null L F 163 163 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs776589114 17q24.2 17 68921451G> T null L I 163 163 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs772127757 17q24.2 17 68921450A> C null L R 163 163 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs776589114 17q24.2 17 68921451G> C null L V 163 163 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1438356895 17q24.2 17 68921444T> G null H P 165 165 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs967186533 17q24.2 17 68921442T> A null S C 166 166 missense 0.747 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs967186533 17q24.2 17 68921442T> C null S G 166 166 missense 0.34 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs144697364 17q24.2 17 68921441C> T null S N 166 166 missense 0.34 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs757433599 17q24.2 17 68921439C> A null G * 167 167 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs749620966 17q24.2 17 68921438C> G null G A 167 167 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1457468868 17q24.2 17 68921435G> C null A G 168 168 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs778033899 17q24.2 17 68921436C> T null A T 168 168 missense 0.878 possibly damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1223356823 17q24.2 17 68921432C> A null G V 169 169 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs866764495 17q24.2 17 68921426G> T null S * 171 171 missense 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1173693784 17q24.2 17 68921418G> C null L V 174 174 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs768194461 17q24.2 17 68921411A> G null I T 176 176 missense 0.145 benign 0.05 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs541402574 17q24.2 17 68921412T> C null I V 176 176 missense 0.062 benign 0.38 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes rs200789731 17q24.2 17 68921406T> C null S G 178 178 missense 0.11 benign 0.06 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes rs201267820 17q24.2 17 68921405C> T null S N 178 178 missense 0.11 benign 0.24 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs754528727 17q24.2 17 68921403C> T null G R 179 179 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs765994245 17q24.2 17 68921396G> A null S F 181 181 missense 0.897 possibly damaging 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs751115375 17q24.2 17 68921397A> G null S P 181 181 missense 0.924 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1026331978 17q24.2 17 68921394C> A null V F 182 182 missense 0.076 benign 0.12 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1026331978 17q24.2 17 68921394C> T null V I 182 182 missense 0.013 benign 0.07 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs762535147 17q24.2 17 68921387G> A null T I 184 184 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1205718871 17q24.2 17 68921385T> C null K E 185 185 missense 0.007 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1473270437 17q24.2 17 68919476C> G null G A 186 186 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1473270437 17q24.2 17 68919476C> T null G D 186 186 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1363278271 17q24.2 17 68919474A> G null S P 187 187 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs936821303 17q24.2 17 68919468T> C null T A 189 189 missense 0.11 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1253080716 17q24.2 17 68919462A> G null Y H 191 191 missense 0.397 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs4147989 17q24.2 17 68919457G> T null N K 192 192 missense 0.861 possibly damaging 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs201033115 17q24.2 17 68919453T> A null K * 194 194 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs201033115 17q24.2 17 68919453T> G null K Q 194 194 missense 0.026 benign 0.24 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1224215839 17q24.2 17 68919452T> G null K T 194 194 missense 0.014 benign 0.24 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1356675186 17q24.2 17 68919439C> A null M I 198 198 missense 0.0 benign 0.63 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1355999421 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 17q24.2 17 68919440A> G null M T 198 198 missense 0.005 benign 0.15 tolerated 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs748461952 17q24.2 17 68919438C> T null A T 199 199 missense 0.006 benign 0.58 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs781704003 17q24.2 17 68919423G> T null L I 204 204 missense 0.0 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs570919934 17q24.2 17 68919411T> C null T A 208 208 2.0E-4 missense 0.166 benign 0.05 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs552291569 17q24.2 17 68919408C> A null G * 209 209 2.0E-4 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1304779141 17q24.2 17 68919407C> G null G A 209 209 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs552291569 17q24.2 17 68919408C> T null G R 209 209 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1406155459 17q24.2 17 68919404A> G null V A 210 210 missense 0.158 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1406155459 17q24.2 17 68919404A> T null V D 210 210 missense 0.892 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs778481005 17q24.2 17 68919402A> C null C G 211 211 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1360374652 17q24.2 17 68919401C> T null C Y 211 211 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1157048435 17q24.2 17 68919398G> C null P R 212 212 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1412822430 17q24.2 17 68919393A> G null S P 214 214 missense 0.03 benign 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1199274317 17q24.2 17 68919392G> T null S Y 214 214 missense 0.019 benign 0.23 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1271470764 17q24.2 17 68919388A> T null N K 215 215 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs753591032 17q24.2 17 68919389T> C null N S 215 215 missense 0.863 possibly damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs753591032 17q24.2 17 68919389T> G null N T 215 215 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs763850389 17q24.2 17 68919387C> T null V M 216 216 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1380484598 17q24.2 17 68919374A> G null F S 220 220 missense 0.488 possibly damaging 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,TOPMed rs368482088 17q24.2 17 68919371A> C null L R 221 221 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs937443334 17q24.2 17 68919368G> A null T I 222 222 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs760516635 17q24.2 17 68919366C> A null V L 223 223 missense 0.214 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1330548847 17q24.2 17 68919360C> A null E * 225 225 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1360450028 17q24.2 17 68919354G> A null L F 227 227 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1411938361 17q24.2 17 68919350C> G null R T 228 228 missense 0.301 benign 0.06 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1222797452 17q24.2 17 68919348G> T null L I 229 229 missense 0.927 probably damaging 0.22 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs762872382 17q24.2 17 68919345A> G null F L 230 230 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC rs762157524 17q24.2 17 68919335A> T null I K 233 233 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs765503593 17q24.2 17 68919336T> C null I V 233 233 missense 0.445 benign 0.07 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs199613232 17q24.2 17 68919333T> C null K E 234 234 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1316431499 17q24.2 17 68919330C> T null G R 235 235 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1402690726 17q24.2 17 68919327T> G null I L 236 236 missense 0.789 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs150367524 17q24.2 17 68919324G> C null L V 237 237 missense 0.296 benign 0.12 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs747462716 17q24.2 17 68919320G> T null P Q 238 238 missense 0.852 possibly damaging 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs775795770 17q24.2 17 68919318G> A null Q * 239 239 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs775795770 17q24.2 17 68919318G> T null Q K 239 239 missense 0.001 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1487272536 17q24.2 17 68919306T> G null K Q 243 243 missense 0.003 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs189611766 17q24.2 17 68918546T> C null I V 245 245 2.0E-4 missense 0.007 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1459552087 17q24.2 17 68918543G> A null Q * 246 246 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs765376450 17q24.2 17 68918539C> T null R K 247 247 missense 0.109 benign 0.58 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs762032809 17q24.2 17 68918537C> A null V F 248 248 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs979532197 17q24.2 17 68918533A> G null L P 249 249 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs776978984 17q24.2 17 68918527T> G null E A 251 251 missense 0.045 benign 0.14 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1314561172 17q24.2 17 68918517C> T null M I 254 254 missense 0.068 benign 0.5 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC rs764475165 17q24.2 17 68918509A> G null I T 257 257 missense 0.175 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs900137160 17q24.2 17 68918505C> A null Q H 258 258 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1363732173 17q24.2 17 68918503T> A null D V 259 259 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs760893157 17q24.2 17 68918497A> G null L P 261 261 missense 0.141 benign 0.07 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs572010938 17q24.2 17 68918495C> G null A P 262 262 2.0E-4 missense 0.331 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs111269415 17q24.2 17 68918494G> A null A V 262 262 missense 0.166 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1331460585 17q24.2 17 68918492G> C null Q E 263 263 missense 0.031 benign 0.68 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1365363628 17q24.2 17 68918486A> C null L V 265 265 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs913021684 17q24.2 17 68918482C> T null S N 266 266 missense 0.667 possibly damaging 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1162489689 17q24.2 17 68918479C> A null G V 267 267 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1397524236 17q24.2 17 68918477C> T null G R 268 268 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC rs746355021 17q24.2 17 68918476C> A null G V 268 268 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1053209677 17q24.2 17 68918464T> C null K R 272 272 missense 0.529 possibly damaging 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1415303024 17q24.2 17 68918461A> G null L P 273 273 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs186420181 17q24.2 17 68918458G> A null T I 274 274 3.99E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs186420181 17q24.2 17 68918458G> T null T N 274 274 3.99E-4 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1469559634 17q24.2 17 68918453C> G null G R 276 276 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1012463135 17q24.2 17 68918449A> G null I T 277 277 missense 0.214 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs770418790 17q24.2 17 68918446G> T null A D 278 278 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs770418790 17q24.2 17 68918446G> A null A V 278 278 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1459871205 17q24.2 17 68918444T> A null I F 279 279 missense 0.235 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1483233003 17q24.2 17 68918438C> T null G R 281 281 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1220502284 17q24.2 17 68918427C> G null Q H 284 284 missense 0.091 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1290805207 17q24.2 17 68918428T> C null Q R 284 284 missense 0.038 benign 0.08 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs772729434 17q24.2 17 68918178A> G null L P 287 287 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs769287027 17q24.2 17 68918172T> C null D G 289 289 missense 0.529 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs747801610 17q24.2 17 68918166G> A null P L 291 291 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1160811447 17q24.2 17 68918167G> T null P T 291 291 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144777539 17q24.2 17 68918148G> C null P R 297 297 3.99E-4 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1262989162 17q24.2 17 68918139C> T null R K 300 300 missense 0.338 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1567859252 17q24.2 17 68918135G> C null H Q 301 301 missense 0.701 possibly damaging 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1186115619 17q24.2 17 68918133T> A null Q L 302 302 missense 0.007 benign 0.06 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs780068273 17q24.2 17 68918127C> T null W * 304 304 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs746865384 17q24.2 17 68918128A> G null W R 304 304 missense 0.817 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1322923513 17q24.2 17 68918125T> G null N H 305 305 missense 0.312 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201481801 17q24.2 17 68918123G> T null N K 305 305 2.0E-4 missense 0.229 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs753931039 17q24.2 17 68918122G> A null L F 306 306 missense 0.048 benign 0.35 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs756620263 17q24.2 17 68918121A> T null L H 306 306 missense 0.207 benign 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl,dbSNP rs35844316 17q24.2 17 68918118A> C null L R 307 307 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs777878093 17q24.2 17 68918113C> T null E K 309 309 missense 0.397 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs140949245 17q24.2 17 68918110G> A null R C 310 310 missense 0.072 benign 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs140949245 17q24.2 17 68918110G> C null R G 310 310 missense 0.045 benign 0.08 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs560601619 17q24.2 17 68918109C> T null R H 310 310 2.0E-4 missense 0.031 benign 0.29 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs560601619 17q24.2 17 68918109C> G null R P 310 310 2.0E-4 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1362662882 17q24.2 17 68918107T> C null K E 311 311 missense 0.935 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs759830620 17q24.2 17 68918106T> C null K R 311 311 missense 0.318 benign 0.54 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs751937982 17q24.2 17 68918103G> C null T R 312 312 missense 0.013 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs763479264 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:22102435,cosmic_study:397 17q24.2 17 68918098G> A null R C 314 314 missense 0.207 benign 0.02 deleterious 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374360241 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68918097C> T null R H 314 314 missense 0.029 benign 0.24 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs761286435 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 17q24.2 17 68918095C> T null V M 315 315 missense 0.67 possibly damaging 0.01 deleterious 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1391166535 17q24.2 17 68918091A> G null I T 316 316 missense 0.51 possibly damaging 0.3 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1301297497 17q24.2 17 68918080T> C null T A 320 320 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76430844 17q24.2 17 68918079G> A null T I 320 320 0.006989 missense 0.749 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76430844 17q24.2 17 68918079G> C null T S 320 320 0.006989 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed rs772033205 17q24.2 17 68918072G> C null F L 322 322 missense 0.324 benign 0.09 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs527721448 17q24.2 17 68918070A> G null M T 323 323 missense 0.488 possibly damaging 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1460889283 17q24.2 17 68918068C> T null D N 324 324 missense 0.749 possibly damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1027470217 17q24.2 17 68918065C> T null E K 325 325 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1567859065 17q24.2 17 68918062C> A null A S 326 326 missense 0.783 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1315596558 17q24.2 17 68918055A> G null I T 328 328 missense 0.259 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs77437550 17q24.2 17 68918053G> C null L V 329 329 missense 0.662 possibly damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs756218261 17q24.2 17 68918049G> C null A G 330 330 missense 0.529 possibly damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs117020693 17q24.2 17 68918050C> A null A S 330 330 0.008586 missense 0.783 possibly damaging 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs756218261 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 17q24.2 17 68918049G> A null A V 330 330 missense 0.984 probably damaging 0.0 deleterious 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs201903984 17q24.2 17 68918047C> A null D Y 331 331 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,TOPMed rs573855339 17q24.2 17 68917443C> T null V I 334 334 2.0E-4 missense 0.324 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1022672941 17q24.2 17 68917438A> T null F L 335 335 missense 0.397 benign 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1013096952 17q24.2 17 68917437G> T null L I 336 336 missense 0.068 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1440280309 17q24.2 17 68917427C> G null G A 339 339 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1265170172 17q24.2 17 68917424T> C null K R 340 340 missense 0.026 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed rs748212968 17q24.2 17 68917416A> C null C G 343 343 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed rs748212968 17q24.2 17 68917416A> G null C R 343 343 missense 0.69 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,NCI-TCGA,gnomAD rs755088665 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:375,cosmic_study:376 17q24.2 17 68917413C> T null A T 344 344 missense 0.837 possibly damaging 0.03 deleterious 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145869753 cosmic curated [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22037554,cosmic_study:375,cosmic_study:479 17q24.2 17 68917412G> A null A V 344 344 3.99E-4 missense 0.213 benign 0.66 tolerated 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs750758453 17q24.2 17 68917410C> T null G S 345 345 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed rs368985398 17q24.2 17 68917400A> G null L S 348 348 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs765226627 17q24.2 17 68917392T> C null K E 351 351 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs763675269 17q24.2 17 68917379C> T null G E 355 355 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs868752067 17q24.2 17 68917378_68917379delinsT T null G E 355 355 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs572436359 17q24.2 17 68917380C> T null G R 355 355 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs775280986 17q24.2 17 68917376A> G null I T 356 356 missense 0.606 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs767286563 17q24.2 17 68917370T> A null Y F 358 358 missense 0.535 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs769726002 17q24.2 17 68907877A> T null L * 362 362 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs775569557 17q24.2 17 68907868T> C null N S 365 365 missense 0.455 possibly damaging 0.28 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs772235007 17q24.2 17 68907866C> A null E * 366 366 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs932611691 17q24.2 17 68907861T> C null I M 367 367 missense 0.003 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes rs201463363 17q24.2 17 68907862A> G null I T 367 367 2.0E-4 missense 0.001 benign 0.82 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs16973424 17q24.2 17 68907860A> C null C G 368 368 0.02955 missense 0.7 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs16973424 17q24.2 17 68907860A> G null C R 368 368 0.02955 missense 0.245 benign 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs749677983 17q24.2 17 68907856A> G null V A 369 369 missense 0.007 benign 0.05 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,TOPMed rs76067052 17q24.2 17 68907857C> A null V F 369 369 0.008187 missense 0.033 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,TOPMed rs76067052 17q24.2 17 68907857C> T null V I 369 369 0.008187 missense 0.014 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,gnomAD rs141016417 17q24.2 17 68907854C> T null E K 370 370 missense 0.027 benign 0.1 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1209305154 17q24.2 17 68907851C> T null E K 371 371 missense 0.168 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs200850061 17q24.2 17 68907843T> C null I M 373 373 missense 0.766 possibly damaging 0.09 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs200346619 17q24.2 17 68907842T> G null T P 374 374 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs756716216 17q24.2 17 68907838G> A null S L 375 375 missense 0.246 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1162049235 17q24.2 17 68907839A> G null S P 375 375 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs752218953 17q24.2 17 68907835A> G null L P 376 376 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1230929069 17q24.2 17 68907833C> G null V L 377 377 missense 0.071 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,gnomAD rs189066157 17q24.2 17 68907827G> A null Q * 379 379 2.0E-4 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1365984089 17q24.2 17 68907818G> A null P S 382 382 missense 0.448 possibly damaging 0.07 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1446446818 17q24.2 17 68907815C> T null D N 383 383 missense 0.168 benign 0.24 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs766119370 17q24.2 17 68907803A> G null S P 387 387 missense 0.786 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs565226522 17q24.2 17 68907794T> C null S G 390 390 missense 0.162 benign 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs145536733 17q24.2 17 68907793C> G null S T 390 390 missense 0.251 benign 0.08 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375564696 17q24.2 17 68907791C> A null E * 391 391 2.0E-4 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375564696 17q24.2 17 68907791C> T null E K 391 391 2.0E-4 missense 0.329 benign 0.29 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1411741946 17q24.2 17 68907788C> T null G R 392 392 missense 0.132 benign 0.26 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1290202195 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q24.2 17 68907782G> A null L F 394 394 missense 0.659 possibly damaging 0.0 deleterious 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs761769709 17q24.2 17 68907781A> T null L H 394 394 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1239069950 17q24.2 17 68907775T> C null Y C 396 396 missense 0.791 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1254859715 17q24.2 17 68907776A> G null Y H 396 396 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1482582617 cosmic curated [Cosmic]: autonomic_ganglia pubmed:23202128,cosmic_study:460 17q24.2 17 68907772G> A null T I 397 397 missense 0.012 benign 0.43 tolerated 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs772032087 17q24.2 17 68907766G> A null P L 399 399 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1272259090 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68907767G> A null P S 399 399 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1226614017 17q24.2 17 68907762T> G null L F 400 400 missense 0.622 possibly damaging 0.15 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs768477345 17q24.2 17 68907763A> G null L S 400 400 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1218991272 17q24.2 17 68907760T> C null E G 401 401 missense 0.519 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs199766554 17q24.2 17 68907761C> G null E Q 401 401 3.99E-4 missense 0.988 probably damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs771200730 17q24.2 17 68907758T> C null R G 402 402 missense 0.844 possibly damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1409785443 17q24.2 17 68907757C> A null R I 402 402 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs978554918 17q24.2 17 68907755T> C null T A 403 403 missense 0.981 probably damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs749622922 17q24.2 17 68907754G> A null T I 403 403 missense 0.982 probably damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1183694912 17q24.2 17 68907746A> C null F V 406 406 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs267605016 17q24.2 17 68907743G> A null P S 407 407 missense 0.668 possibly damaging 0.06 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs748588222 17q24.2 17 68906162T> G null E D 408 408 missense 0.005 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140010342 17q24.2 17 68906161G> A null L F 409 409 9.98E-4 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140010342 17q24.2 17 68906161G> T null L I 409 409 9.98E-4 missense 0.858 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs886960281 17q24.2 17 68906158A> G null Y H 410 410 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs866649283 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68906152C> T null D N 412 412 missense 0.162 benign 0.07 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs769218826 17q24.2 17 68906149G> A null L F 413 413 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs992107061 17q24.2 17 68906140A> G null Y H 416 416 missense 0.005 benign 0.26 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs746453789 17q24.2 17 68906136G> A null P L 417 417 missense 0.029 benign 0.55 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1567848392 17q24.2 17 68906137G> T null P T 417 417 missense 0.02 benign 0.47 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs71375715 17q24.2 17 68906128C> T null G R 420 420 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1463592569 17q24.2 17 68906122C> A null E * 422 422 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202191057 17q24.2 17 68906115T> A null Y F 424 424 2.0E-4 missense 0.519 possibly damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs757942048 17q24.2 17 68906116A> G null Y H 424 424 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1390032688 17q24.2 17 68906112C> A null G V 425 425 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1247309230 17q24.2 17 68906102C> T null M I 428 428 missense 0.12 benign 0.08 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374615527 17q24.2 17 68906104T> G null M L 428 428 missense 0.072 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374615527 17q24.2 17 68906104T> C null M V 428 428 missense 0.075 benign 0.09 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs763892800 17q24.2 17 68906098T> C null T A 430 430 missense 0.523 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs756111720 17q24.2 17 68906097G> A null T I 430 430 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs761984968 17q24.2 17 68906087T> G null E D 433 433 missense 0.986 probably damaging 0.61 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1322510127 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68906086C> T null V I 434 434 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC rs766463467 17q24.2 17 68906081G> T null F L 435 435 missense 0.973 probably damaging 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1454210273 17q24.2 17 68906079A> G null L P 436 436 missense 0.696 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141423568 17q24.2 17 68906063T> G null K N 441 441 missense 0.625 possibly damaging 0.06 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1434687186 17q24.2 17 68906058G> A null T I 443 443 missense 0.053 benign 0.05 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1426214527 17q24.2 17 68906050C> T null E K 446 446 missense 0.315 benign 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370259792 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68906046G> A null S L 447 447 missense 0.062 benign 0.13 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs540896530 17q24.2 17 68906047A> G null S P 447 447 missense 0.015 benign 0.61 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs370259792 17q24.2 17 68906046G> C null S W 447 447 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs758482611 17q24.2 17 68903495A> C null I M 449 449 missense 0.038 benign 0.22 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1221866726 17q24.2 17 68903496A> G null I T 449 449 missense 0.007 benign 0.34 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1227596976 17q24.2 17 68903497T> C null I V 449 449 missense 0.001 benign 0.5 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1310538651 17q24.2 17 68903494C> A null A S 450 450 missense 0.007 benign 0.47 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1355879475 17q24.2 17 68903484C> T null G E 453 453 missense 0.03 benign 0.16 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1307117734 17q24.2 17 68903480T> G null E D 454 454 missense 0.011 benign 0.21 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1428068507 17q24.2 17 68903476G> A null Q * 456 456 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184161214 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 17q24.2 17 68903472G> A null A V 457 457 0.001997 missense 0.005 benign 0.36 tolerated 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1457511277 17q24.2 17 68903463G> C null A G 460 460 missense 0.019 benign 0.54 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs545924794 17q24.2 17 68903458C> T null D N 462 462 2.0E-4 missense 0.078 benign 0.06 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1475790396 17q24.2 17 68903451T> C null E G 464 464 missense 0.003 benign 0.47 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1251556982 17q24.2 17 68903449T> C null R G 465 465 missense 0.005 benign 0.18 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs575245439 17q24.2 17 68903447C> A null R S 465 465 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs575245439 17q24.2 17 68903447C> G null R S 465 465 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1399997387 17q24.2 17 68903439T> G null E A 468 468 missense 0.238 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs772582692 17q24.2 17 68903435C> T null M I 469 469 missense 0.005 benign 0.15 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1195992363 17q24.2 17 68903434C> T null E K 470 470 missense 0.637 possibly damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377266833 17q24.2 17 68903431G> A null Q * 471 471 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377266833 17q24.2 17 68903431G> T null Q K 471 471 missense 0.085 benign 0.05 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs541423675 17q24.2 17 68903427A> G null V A 472 472 2.0E-4 missense 0.007 benign 0.84 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs563302186 17q24.2 17 68903428C> T null V I 472 472 2.0E-4 missense 0.007 benign 0.29 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1287644181 17q24.2 17 68903425G> A null L F 473 473 missense 0.162 benign 0.1 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs376234966 17q24.2 17 68903424A> T null L H 473 473 missense 0.967 probably damaging 0.07 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,NCI-TCGA,gnomAD rs747896533 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q24.2 17 68903416G> A null L F 476 476 missense 0.073 benign 0.47 tolerated 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs553722908 17q24.2 17 68903411G> T null N K 477 477 missense 0.005 benign 0.39 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs754985708 17q24.2 17 68903406A> G null M T 479 479 missense 0.001 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1242301748 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 17q24.2 17 68903397G> T null T K 482 482 missense 0.053 benign 0.07 tolerated 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs750489152 17q24.2 17 68903394A> G null I T 483 483 missense 0.013 benign 0.05 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1260356044 17q24.2 17 68903380G> C null L V 488 488 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs201738885 17q24.2 17 68903374G> A null R * 490 490 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141905033 17q24.2 17 68903373C> A null R L 490 490 missense 0.122 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs761042701 17q24.2 17 68903371G> A null Q * 491 491 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1215093246 17q24.2 17 68903370T> C null Q R 491 491 missense 0.024 benign 0.13 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs75339580 17q24.2 17 68903360G> T null C * 494 494 3.99E-4 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1292474714 17q24.2 17 68903362A> T null C S 494 494 missense 0.192 benign 0.31 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs767975152 17q24.2 17 68903359C> G null A P 495 495 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs767975152 17q24.2 17 68903359C> A null A S 495 495 missense 0.94 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs767975152 17q24.2 17 68903359C> T null A T 495 495 missense 0.224 benign 0.15 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1226463023 17q24.2 17 68903356T> C null I V 496 496 missense 0.051 benign 0.69 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs760008009 17q24.2 17 68903353C> A null A S 497 497 missense 0.933 probably damaging 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs760008009 17q24.2 17 68903353C> T null A T 497 497 missense 0.559 possibly damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs774890898 17q24.2 17 68903346A> G null V A 499 499 missense 0.16 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1330985136 17q24.2 17 68903347C> A null V F 499 499 missense 0.16 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1330985136 17q24.2 17 68903347C> G null V L 499 499 missense 0.044 benign 0.75 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,NCI-TCGA,gnomAD rs199640898 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22722839,pubmed:24241536,cosmic_study:376,cosmic_study:391,cosmic_study:571 17q24.2 17 68903344G> A null R C 500 500 missense 0.588 possibly damaging 0.01 deleterious 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs762433116 17q24.2 17 68903343C> T null R H 500 500 missense 0.401 benign 0.34 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs747926096 17q24.2 17 68903339C> A null L F 501 501 missense 0.005 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs747926096 17q24.2 17 68903339C> G null L F 501 501 missense 0.005 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs201620955 17q24.2 17 68903340A> G null L S 501 501 missense 0.087 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145796573 17q24.2 17 68903330T> G null L F 504 504 0.002196 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC rs753728781 17q24.2 17 68903326G> T null H N 506 506 missense 0.005 benign 0.35 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs200485594 17q24.2 17 68903324A> C null H Q 506 506 2.0E-4 missense 0.033 benign 0.09 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC rs753728781 17q24.2 17 68903326G> A null H Y 506 506 missense 0.012 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1329270115 17q24.2 17 68903322T> G null E A 507 507 missense 0.786 possibly damaging 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs757295132 17q24.2 17 68903323C> T null E K 507 507 missense 0.786 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs757295132 17q24.2 17 68903323C> G null E Q 507 507 missense 0.382 benign 0.06 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs749341795 17q24.2 17 68903319C> A null R I 508 508 missense 0.255 benign 0.05 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1051609658 17q24.2 17 68903315T> A null K N 509 509 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1013417176 17q24.2 17 68903314C> A null A S 510 510 missense 0.02 benign 0.67 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1477242601 17q24.2 17 68903305C> G null A P 513 513 missense 0.309 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs778003901 17q24.2 17 68903302G> T null L M 514 514 missense 0.477 possibly damaging 0.12 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1567845108 17q24.2 17 68903301A> C null L R 514 514 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1341641342 17q24.2 17 68902878G> T null L I 515 515 missense 0.249 benign 0.05 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1216462989 17q24.2 17 68902871A> G null I T 517 517 missense 0.049 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1340128464 17q24.2 17 68902865A> G null M T 519 519 missense 0.0 benign 0.11 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1284166901 17q24.2 17 68902859C> G null G A 521 521 missense 0.026 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs187246038 17q24.2 17 68902853C> A null C F 523 523 missense 0.001 benign 0.49 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs758858328 17q24.2 17 68902852G> C null C W 523 523 missense 0.753 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs750976601 17q24.2 17 68902851G> C null P A 524 524 missense 0.897 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs529671294 17q24.2 17 68902848G> A null L F 525 525 2.0E-4 missense 0.003 benign 0.14 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1411197558 17q24.2 17 68902844A> G null L P 526 526 missense 0.914 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1420855205 17q24.2 17 68902845G> C null L V 526 526 missense 0.024 benign 0.36 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs753536798 17q24.2 17 68902842C> T null V M 527 527 missense 0.06 benign 0.28 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs763851755 17q24.2 17 68902835T> G null Y S 529 529 missense 0.007 benign 0.4 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs775181727 17q24.2 17 68902814T> C null Q R 536 536 missense 0.003 benign 0.36 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1206853333 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68902807A> C null S R 538 538 missense 0.361 benign 0.16 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1249953581 17q24.2 17 68902808C> G null S T 538 538 missense 0.007 benign 0.37 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1029935624 17q24.2 17 68902805T> A null Y F 539 539 missense 0.66 possibly damaging 0.52 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1371865287 17q24.2 17 68902802G> A null T I 540 540 missense 0.028 benign 0.11 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes rs558911963 17q24.2 17 68902797C> A null E * 542 542 2.0E-4 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes rs558911963 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68902797C> T null E K 542 542 2.0E-4 missense 0.412 benign 0.06 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1478680640 17q24.2 17 68902791A> G null S P 544 544 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs771944541 17q24.2 17 68902785G> A null H Y 546 546 missense 0.007 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs984579491 17q24.2 17 68902778T> C null Y C 548 548 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1197255993 17q24.2 17 68902758G> T null Q K 555 555 missense 0.022 benign 0.98 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1468292400 17q24.2 17 68902755G> C null P A 556 556 missense 0.331 benign 0.13 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs774407501 17q24.2 17 68902751T> C null H R 557 557 missense 0.007 benign 0.23 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1354630236 17q24.2 17 68902745G> C null P R 559 559 missense 0.962 probably damaging 0.11 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs748235883 17q24.2 17 68902746G> A null P S 559 559 missense 0.596 possibly damaging 0.14 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1322233697 17q24.2 17 68902730A> C null L R 564 564 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs142528131 17q24.2 17 68902721T> C null N S 567 567 missense 0.936 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1189668892 17q24.2 17 68895010G> T null A E 571 571 missense 0.02 benign 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs759446562 17q24.2 17 68895007C> T null S N 572 572 missense 0.017 benign 0.71 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1198815400 17q24.2 17 68895008T> G null S R 572 572 missense 0.029 benign 0.05 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs774093475 17q24.2 17 68895006G> T null S R 572 572 missense 0.029 benign 0.05 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1208668521 17q24.2 17 68895005T> A null I F 573 573 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs770864405 17q24.2 17 68895004A> G null I T 573 573 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs776720062 17q24.2 17 68895001T> G null D A 574 574 missense 0.767 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150312203 17q24.2 17 68895002C> G null D H 574 574 2.0E-4 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150312203 17q24.2 17 68895002C> T null D N 574 574 2.0E-4 missense 0.149 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs768760779 17q24.2 17 68894998T> C null D G 575 575 missense 0.162 benign 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs768760779 17q24.2 17 68894998T> A null D V 575 575 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs890161897 17q24.2 17 68894991T> C null I M 577 577 missense 0.382 benign 0.03 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140095797 17q24.2 17 68894990G> C null Q E 578 578 3.99E-4 missense 0.039 benign 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs948557789 17q24.2 17 68894989T> G null Q P 578 578 missense 0.212 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs199823966 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 17q24.2 17 68894986G> A null S F 579 579 2.0E-4 missense 0.97 probably damaging 0.0 deleterious 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs199823966 17q24.2 17 68894986G> T null S Y 579 579 2.0E-4 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1434286680 17q24.2 17 68894981C> T null E K 581 581 missense 0.005 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1359860172 17q24.2 17 68894977T> C null H R 582 582 missense 0.001 benign 0.76 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,TOPMed,gnomAD rs151155144 17q24.2 17 68894975G> A null Q * 583 583 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,TOPMed,gnomAD rs151155144 17q24.2 17 68894975G> T null Q K 583 583 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1567837642 17q24.2 17 68894972T> C null N D 584 584 missense 0.031 benign 0.31 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs779240115 17q24.2 17 68894960C> G null E Q 588 588 missense 0.692 possibly damaging 0.02 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs917049585 17q24.2 17 68894938C> A null R I 595 595 missense 0.914 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs757870888 17q24.2 17 68894929G> A null T I 598 598 missense 0.007 benign 0.05 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1395778054 17q24.2 17 68894926T> C null D G 599 599 missense 0.786 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs200686680 17q24.2 17 68894921G> C null P A 601 601 2.0E-4 missense 0.209 benign 0.59 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1264541428 17q24.2 17 68894918A> G null S P 602 602 missense 0.908 possibly damaging 0.18 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1382015380 17q24.2 17 68894912T> G null N H 604 604 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs768691456 17q24.2 17 68894903T> C null I V 607 607 missense 0.113 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs755746026 17q24.2 17 68894899G> C null T R 608 608 missense 0.078 benign 0.46 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs908479344 17q24.2 17 68894885C> A null E * 613 613 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368314276 17q24.2 17 68894306T> C null Y C 616 616 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371975356 17q24.2 17 68894303C> T null S N 617 617 missense 0.005 benign 0.1 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143022668 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68894297G> A null S L 619 619 2.0E-4 missense 0.401 benign 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs747703402 17q24.2 17 68894295A> C null L V 620 620 missense 0.007 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs780663983 17q24.2 17 68894292C> T null A T 621 621 missense 0.299 benign 0.09 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs754694814 17q24.2 17 68894289A> G null C R 622 622 missense 0.696 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs751214809 17q24.2 17 68894285T> C null N S 623 623 missense 0.975 probably damaging 0.11 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs139617953 17q24.2 17 68894282G> T null A D 624 624 3.99E-4 missense 0.271 benign 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1456657151 17q24.2 17 68894283C> T null A T 624 624 missense 0.0 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1232500427 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68894277T> C null R G 626 626 missense 0.972 probably damaging 0.04 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1416408176 17q24.2 17 68894273A> G null L S 627 627 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1419092356 17q24.2 17 68894271T> G null N H 628 628 missense 0.535 possibly damaging 0.37 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1178368407 17q24.2 17 68894261G> A null P L 631 631 missense 0.519 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1475760235 17q24.2 17 68894255A> T null L H 633 633 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1167702011 17q24.2 17 68894256G> C null L V 633 633 missense 0.888 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs1180667596 17q24.2 17 68894251C> T null M I 634 634 missense 0.026 benign 0.16 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs541218848 17q24.2 17 68894252A> T null M K 634 634 missense 0.747 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs541218848 17q24.2 17 68894252A> G null M T 634 634 missense 0.676 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs201434277 17q24.2 17 68894246A> G null I T 636 636 missense 0.844 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs765164512 17q24.2 17 68894247T> C null I V 636 636 missense 0.044 benign 0.3 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs199624384 17q24.2 17 68894243A> G null V A 637 637 2.0E-4 missense 0.693 possibly damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1401628082 17q24.2 17 68894244C> T null V I 637 637 missense 0.045 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs767532978 17q24.2 17 68894240C> T null S N 638 638 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes rs200570759 17q24.2 17 68894239A> T null S R 638 638 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs530154281 17q24.2 17 68894236A> T null N K 639 639 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) Ensembl rs1014021420 17q24.2 17 68894228A> C null L R 642 642 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368506641 17q24.2 17 68894226C> T null G R 643 643 missense 0.315 benign 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs749671878 17q24.2 17 68894221C> T null M I 644 644 missense 0.003 benign 0.62 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs771415786 17q24.2 17 68894222A> G null M T 644 644 missense 0.013 benign 0.22 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1237157689 17q24.2 17 68894223T> C null M V 644 644 missense 0.013 benign 0.09 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1386328078 17q24.2 17 68894213G> C null P R 647 647 missense 0.642 possibly damaging 0.29 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1036883442 17q24.2 17 68894211A> G null S P 648 648 missense 0.956 probably damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs770352360 17q24.2 17 68894207A> G null V A 649 649 missense 0.0 benign 0.93 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs747575997 17q24.2 17 68894204T> C null H R 650 650 missense 0.007 benign 0.44 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs754497896 17q24.2 17 68894199G> A null R * 652 652 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147411028 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 17q24.2 17 68894198C> A null R L 652 652 0.002596 missense 0.109 benign 0.0 deleterious 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147411028 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.2 17 68894198C> T null R Q 652 652 0.002596 missense 0.0 benign 0.74 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs779750734 17q24.2 17 68894190T> A null R * 655 655 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs758123773 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 17q24.2 17 68894189C> A null R I 655 655 missense 0.967 probably damaging 0.0 deleterious 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs758123773 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q24.2 17 68894189C> T null R K 655 655 missense 0.149 benign 0.07 tolerated 1 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1478545063 17q24.2 17 68894186C> A null S I 656 656 missense 0.771 possibly damaging 0.01 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1478545063 17q24.2 17 68894186C> T null S N 656 656 missense 0.169 benign 0.09 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs867564036 17q24.2 17 68894183G> A null T I 657 657 missense 0.152 benign 0.15 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs750233259 17q24.2 17 68894172C> T null V I 661 661 missense 0.009 benign 0.42 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201454634 17q24.2 17 68894166T> C null I V 663 663 2.0E-4 missense 0.003 benign 0.41 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372864427 17q24.2 17 68894163A> G null Y H 664 664 missense 0.007 benign 0.25 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs753768286 17q24.2 17 68894159T> C null N S 665 665 missense 0.003 benign 0.9 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs767620149 17q24.2 17 68894154T> A null T S 667 667 missense 0.0 benign 0.76 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs759598689 17q24.2 17 68894148G> A null P S 669 669 missense 0.14 benign 0.05 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs532576060 17q24.2 17 68894142A> G null S P 671 671 3.99E-4 missense 0.404 benign 0.12 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs766719143 17q24.2 17 68894138G> C null P R 672 672 missense 0.0 unknown 0.09 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1368896695 17q24.2 17 68894139G> A null P S 672 672 missense 0.0 unknown 0.67 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs975084917 17q24.2 17 68894133A> G null S P 674 674 missense 0.0 unknown 0.17 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed,gnomAD rs943729885 17q24.2 17 68894129C> T null G E 675 675 missense 0.0 unknown 0.27 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs565129228 17q24.2 17 68894127T> C null I V 676 676 2.0E-4 missense 0.0 unknown 0.13 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs912304369 17q24.2 17 68894123G> T null S Y 677 677 missense 0.0 unknown 1.0 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1276315710 17q24.2 17 68894115T> A null T S 680 680 missense 0.0 unknown 0.26 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs777064619 17q24.2 17 68894112G> A null L F 681 681 missense 0.0 unknown 0.43 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs768209455 17q24.2 17 68894111A> G null L P 681 681 missense 0.0 unknown 0.26 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs768209455 17q24.2 17 68894111A> C null L R 681 681 missense 0.0 unknown 0.37 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1232947712 17q24.2 17 68894108A> G null L S 682 682 missense 0.0 unknown 0.0 deleterious 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1175046184 17q24.2 17 68894103C> A null A S 684 684 missense 0.0 unknown 0.61 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1454322401 17q24.2 17 68894102G> A null A V 684 684 missense 0.0 unknown 0.33 tolerated 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1190893313 17q24.2 17 68894092C> A null L F 687 687 missense 0.006 benign 0.32 tolerated - low confidence 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs746527335 17q24.2 17 68894094A> C null L V 687 687 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs190774958 17q24.2 17 68894081C> T null S N 691 691 9.98E-4 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs190774958 17q24.2 17 68894081C> G null S T 691 691 9.98E-4 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,TOPMed,gnomAD rs778745756 17q24.2 17 68894075G> A null P L 693 693 missense 0.738 possibly damaging 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs576286793 17q24.2 17 68894076G> T null P T 693 693 2.0E-4 missense 0.547 possibly damaging 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) 1000Genomes,ExAC,gnomAD rs561159864 17q24.2 17 68894067T> C null N D 696 696 2.0E-4 missense 0.0 unknown 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1341514069 17q24.2 17 68894066T> C null N S 696 696 missense 0.0 unknown 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) gnomAD rs1268966260 17q24.2 17 68894060A> T null L * 698 698 stop gained 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs753807408 17q24.2 17 68894057G> A null T I 699 699 missense 0.0 unknown 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) ExAC,gnomAD rs777573146 17q24.2 17 68894055A> C null F V 700 700 missense 0.0 benign 0 A0A075B774 ABCA8 ATP-binding cassette sub-family A member 8 (Fragment) TOPMed rs1179368116 17q24.2 17 68894048A> G null L P 702 702 missense 0.189 benign 0 A0A075B777 MPPE1 Metallophosphoesterase 1 ExAC,TOPMed,gnomAD rs575735209 18p11.21 18 11897260G> A null A V 2 2 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 ExAC,TOPMed,gnomAD rs758271340 18p11.21 18 11897257A> G null M T 3 3 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 ExAC,NCI-TCGA,gnomAD rs780355922 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 18p11.21 18 11897252C> T null E K 5 5 missense 0.0 benign 0.37 tolerated - low confidence 1 A0A075B777 MPPE1 Metallophosphoesterase 1 ExAC,gnomAD rs756331319 18p11.21 18 11897246C> G null G R 7 7 missense 0.012 benign 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 ExAC,gnomAD rs750636211 18p11.21 18 11897243A> G null F L 8 8 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 gnomAD rs1209590917 18p11.21 18 11897231T> C null N D 12 12 missense 0.049 benign 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 ExAC,TOPMed,gnomAD rs767645846 18p11.21 18 11897227A> G null F S 13 13 missense 0.084 benign 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 ExAC,TOPMed,gnomAD rs767645846 18p11.21 18 11897227A> T null F Y 13 13 missense 0.196 benign 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 ESP,ExAC,gnomAD rs369464840 18p11.21 18 11897221G> A null P L 15 15 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 ExAC,TOPMed,gnomAD rs752069265 18p11.21 18 11897216T> C null K E 17 17 missense 0.014 benign 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 ExAC,gnomAD rs764529708 18p11.21 18 11897209T> C null K R 19 19 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 ExAC,gnomAD rs775674909 18p11.21 18 11897207T> A null S C 20 20 missense 0.533 possibly damaging 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 TOPMed,gnomAD rs1266604358 18p11.21 18 11897206C> T null S N 20 20 missense 0.107 benign 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 ExAC,gnomAD rs775674909 18p11.21 18 11897207T> G null S R 20 20 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B777 MPPE1 Metallophosphoesterase 1 TOPMed,gnomAD rs1266604358 18p11.21 18 11897206C> G null S T 20 20 missense 0.073 benign 0.0 deleterious - low confidence 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC rs750649185 17q24.3 17 69314411G> A null S F 2 2 missense 0.172 benign 0.0 deleterious - low confidence 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,NCI-TCGA,gnomAD rs758687342 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.3 17 69314412A> G null S P 2 2 missense 0.057 benign 0.12 tolerated - low confidence 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs765387207 17q24.3 17 69314403T> C null I V 5 5 missense 0.003 benign 0.69 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs753819993 17q24.3 17 69314397C> A null E * 7 7 stop gained 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs753819993 17q24.3 17 69314397C> T null E K 7 7 missense 0.074 benign 0.04 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1440617034 17q24.3 17 69314391C> T null G R 9 9 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143617991 17q24.3 17 69314375G> A null T I 14 14 3.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs770623872 17q24.3 17 69314372C> T null R K 15 15 missense 0.003 benign 0.8 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs770623872 17q24.3 17 69314372C> G null R T 15 15 missense 0.42 benign 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs967412830 17q24.3 17 69314369G> A null T I 16 16 missense 0.099 benign 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs773009365 17q24.3 17 69314367G> C null L V 17 17 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1159405191 17q24.3 17 69314363A> G null L P 18 18 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 Ensembl rs979031739 17q24.3 17 69314358T> C null K E 20 20 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1479245322 17q24.3 17 69314355T> A null N Y 21 21 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs747704736 17q24.3 17 69314338G> T null C * 26 26 stop gained 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1250960077 17q24.3 17 69314340A> T null C S 26 26 missense 0.254 benign 0.03 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1215729980 17q24.3 17 69314339C> T null C Y 26 26 missense 0.151 benign 0.15 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs780547628 17q24.3 17 69314337T> C null R G 27 27 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1222151614 17q24.3 17 69314336C> T null R K 27 27 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs769268134 17q24.3 17 69314333G> A null T I 28 28 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs769268134 17q24.3 17 69314333G> T null T N 28 28 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs747470011 17q24.3 17 69314321C> T null S N 32 32 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1328374477 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 17q24.3 17 69314316G> A null Q * 34 34 missense 1 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,ExAC,TOPMed,gnomAD rs375630767 17q24.3 17 69314315T> G null Q P 34 34 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,ExAC,TOPMed,gnomAD rs375630767 17q24.3 17 69314315T> C null Q R 34 34 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1357748415 17q24.3 17 69313278A> T null F I 41 41 missense 0.043 benign 0.13 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 Ensembl rs1052359 17q24.3 17 69313270T> A null L F 43 43 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1184981238 17q24.3 17 69313264C> T null W * 45 45 stop gained 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1184981238 17q24.3 17 69313264C> A null W C 45 45 missense 0.942 probably damaging 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1418580493 17q24.3 17 69313265C> A null W L 45 45 missense 0.011 benign 1.0 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs772531138 17q24.3 17 69313260T> C null I V 47 47 missense 0.428 benign 0.02 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 Ensembl rs867889642 17q24.3 17 69313253A> C null I S 49 49 missense 0.24 benign 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs746269594 17q24.3 17 69313251T> C null S G 50 50 missense 0.634 possibly damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1211485518 17q24.3 17 69313250C> T null S N 50 50 missense 0.138 benign 0.06 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1307258481 17q24.3 17 69313249G> C null S R 50 50 missense 0.892 possibly damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs779225546 17q24.3 17 69313246C> T null M I 51 51 missense 0.676 possibly damaging 0.13 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1177978083 17q24.3 17 69313248T> C null M V 51 51 missense 0.604 possibly damaging 0.08 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs534436116 17q24.3 17 69313243C> T null M I 52 52 missense 0.051 benign 0.11 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs749467654 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 17q24.3 17 69313239G> A null P S 54 54 missense 0.972 probably damaging 0.02 deleterious 1 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs777981058 17q24.3 17 69313229T> G null K T 57 57 missense 0.25 benign 0.42 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1314614571 17q24.3 17 69313226du p null Y * 58 58 stop gained 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs756157592 17q24.3 17 69313226T> A null Y F 58 58 missense 0.955 probably damaging 0.1 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs766448392 17q24.3 17 69313215G> A null P S 62 62 missense 0.001 benign 0.58 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1327796899 17q24.3 17 69313212T> C null N D 63 63 missense 0.001 benign 1.0 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1327796899 17q24.3 17 69313212T> G null N H 63 63 missense 0.534 possibly damaging 0.2 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1411801979 17q24.3 17 69313208A> C null I R 64 64 missense 0.0 benign 0.47 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,ExAC,TOPMed,gnomAD rs146950897 17q24.3 17 69313209T> C null I V 64 64 missense 0.0 benign 0.64 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1277278615 17q24.3 17 69313204T> A null E D 65 65 missense 0.022 benign 0.29 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1346104625 17q24.3 17 69313199T> C null N S 67 67 missense 0.0 benign 0.74 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,ExAC,TOPMed,gnomAD rs141163743 17q24.3 17 69313187T> C null K R 71 71 missense 0.001 benign 0.57 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1474265761 17q24.3 17 69313179G> A null L F 74 74 missense 0.017 benign 0.14 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,TOPMed,gnomAD rs373680676 17q24.3 17 69313167T> C null I V 78 78 missense 0.003 benign 0.87 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs761606626 cosmic curated [Cosmic]: prostate cosmic_study:435 17q24.3 17 69313164G> C null L V 79 79 missense 0.036 benign 0.39 tolerated 1 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148185360 17q24.3 17 69313157T> C null Y C 81 81 2.0E-4 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1017154273 17q24.3 17 69313158A> G null Y H 81 81 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1319104454 17q24.3 17 69313154G> C null T S 82 82 missense 0.685 possibly damaging 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,ExAC,gnomAD rs370534525 17q24.3 17 69313151G> A null P L 83 83 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1481711135 17q24.3 17 69313152G> A null P S 83 83 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ExAC,gnomAD rs537418571 17q24.3 17 69313143T> C null N D 86 86 2.0E-4 missense 0.57 possibly damaging 0.02 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1314281535 17q24.3 17 69313139A> G null I T 87 87 missense 0.001 benign 0.32 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1429190828 17q24.3 17 69313140T> C null I V 87 87 missense 0.0 benign 0.61 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143399790 17q24.3 17 69313130C> T null S N 90 90 2.0E-4 missense 0.001 benign 0.69 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 Ensembl,dbSNP rs12383 17q24.3 17 69313122G> T null Q K 93 93 missense 0.053 benign 0.48 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1372534178 17q24.3 17 69313121T> C null Q R 93 93 missense 0.003 benign 0.18 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1296182535 17q24.3 17 69313119T> C null K E 94 94 missense 0.003 benign 0.47 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1444096565 17q24.3 17 69313118T> C null K R 94 94 missense 0.001 benign 0.21 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1164450571 17q24.3 17 69313116C> A null V L 95 95 missense 0.34 benign 0.03 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1460091945 17q24.3 17 69313112G> A null S F 96 96 missense 0.024 benign 0.16 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1420063379 17q24.3 17 69313110T> C null T A 97 97 missense 0.0 benign 0.51 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs774763764 17q24.3 17 69313106T> C null D G 98 98 missense 0.173 benign 0.03 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149206442 17q24.3 17 69313103T> A null H L 99 99 2.0E-4 missense 0.038 benign 0.57 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149206442 17q24.3 17 69313103T> C null H R 99 99 2.0E-4 missense 0.054 benign 0.29 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1028726642 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:435 17q24.3 17 69313101G> C null L V 100 100 missense 0.248 benign 0.26 tolerated 1 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs777877299 17q24.3 17 69313098G> C null P A 101 101 missense 0.007 benign 0.76 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs756316411 17q24.3 17 69313095C> A null D Y 102 102 missense 0.528 possibly damaging 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1485242572 17q24.3 17 69309420A> G null I T 104 104 missense 0.057 benign 0.09 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1438450341 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 17q24.3 17 69309421T> C null I V 104 104 missense 0.003 benign 0.37 tolerated 1 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1218652003 17q24.3 17 69309411T> C null E G 107 107 missense 0.606 possibly damaging 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1373772722 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.3 17 69309409C> T null E K 108 108 missense 0.011 benign 0.47 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ExAC,gnomAD rs201346812 17q24.3 17 69309406A> C null Y D 109 109 2.0E-4 missense 0.567 possibly damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs748380020 17q24.3 17 69309402G> A null T I 110 110 missense 0.035 benign 0.12 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1381912172 17q24.3 17 69309386C> T null M I 115 115 missense 0.031 benign 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 Ensembl rs75899488 17q24.3 17 69309382T> G null T P 117 117 missense 0.097 benign 0.15 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ExAC,TOPMed,gnomAD rs199888749 17q24.3 17 69309378G> C null S C 118 118 0.001597 missense 0.582 possibly damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs199888749 17q24.3 17 69309378G> A null S F 118 118 0.001597 missense 0.401 benign 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs747037136 17q24.3 17 69309379A> T null S T 118 118 missense 0.09 benign 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369806150 17q24.3 17 69309363G> A null P L 123 123 2.0E-4 missense 0.18 benign 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1378616721 17q24.3 17 69309364G> A null P S 123 123 missense 0.006 benign 0.46 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1481805239 17q24.3 17 69309361T> C null S G 124 124 missense 0.056 benign 0.19 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,ExAC,TOPMed,gnomAD rs376806604 17q24.3 17 69309360C> T null S N 124 124 missense 0.003 benign 0.23 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1164927644 17q24.3 17 69309356G> T null N K 125 125 missense 0.056 benign 0.2 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1250370066 17q24.3 17 69309357T> C null N S 125 125 missense 0.0 benign 0.55 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs759065431 17q24.3 17 69309355A> G null F L 126 126 missense 0.869 possibly damaging 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs966565224 17q24.3 17 69309354A> T null F Y 126 126 missense 0.268 benign 0.22 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1171199739 17q24.3 17 69309349C> T null G S 128 128 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1256394160 17q24.3 17 69309328T> C null M V 135 135 missense 0.027 benign 0.03 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1354940605 17q24.3 17 69309325A> T null S T 136 136 missense 0.998 probably damaging 0.1 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,ExAC,TOPMed,gnomAD rs371330830 17q24.3 17 69309321T> C null Y C 137 137 missense 0.095 benign 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs763492293 17q24.3 17 69309322A> T null Y N 137 137 missense 0.889 possibly damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1280114367 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 17q24.3 17 69309313G> A null R C 140 140 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,NCI-TCGA,gnomAD rs567168335 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q24.3 17 69309312C> T null R H 140 140 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1280114367 17q24.3 17 69309313G> T null R S 140 140 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1349722172 17q24.3 17 69309310A> C null F V 141 141 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1398358469 17q24.3 17 69309297A> G null M T 145 145 missense 0.0 benign 0.6 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,ExAC,TOPMed,gnomAD rs140656112 17q24.3 17 69309298T> C null M V 145 145 missense 0.015 benign 0.3 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1403304320 17q24.3 17 69309294A> G null I T 146 146 missense 0.09 benign 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs768960534 17q24.3 17 69309292G> C null P A 147 147 missense 0.149 benign 0.13 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs747127048 17q24.3 17 69309291G> A null P L 147 147 missense 0.89 possibly damaging 0.02 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs780161701 17q24.3 17 69309289C> T null V I 148 148 missense 0.193 benign 0.21 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,ExAC,TOPMed,gnomAD rs367763619 17q24.3 17 69309282G> A null S F 150 150 missense 0.849 possibly damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,ExAC,TOPMed,gnomAD rs367763619 17q24.3 17 69309282G> T null S Y 150 150 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs749243368 17q24.3 17 69309271C> T null D N 154 154 missense 0.001 benign 0.27 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1290294216 17q24.3 17 69308365C> T null G D 158 158 missense 0.003 benign 0.43 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs754681126 17q24.3 17 69308366C> G null G R 158 158 missense 0.27 benign 0.09 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ExAC,TOPMed,gnomAD rs201093486 17q24.3 17 69308362C> T null C Y 159 159 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ESP,ExAC,TOPMed,gnomAD rs146823111 17q24.3 17 69308357T> C null K E 161 161 missense 0.003 benign 0.88 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1390884062 17q24.3 17 69308353G> A null S L 162 162 missense 0.074 benign 0.09 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1157911487 17q24.3 17 69308351A> G null C R 163 163 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs757949329 17q24.3 17 69308350C> T null C Y 163 163 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1381895162 17q24.3 17 69308345C> A null A S 165 165 missense 0.219 benign 0.33 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs749865450 17q24.3 17 69308338T> G null Q P 167 167 missense 0.14 benign 0.25 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs765817707 17q24.3 17 69308333A> C null W G 169 169 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs754314455 17q24.3 17 69308326G> T null S * 171 171 stop gained 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1452229354 17q24.3 17 69308318T> C null T A 174 174 missense 0.003 benign 0.55 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1283678331 17q24.3 17 69308315C> T null V I 175 175 missense 0.003 benign 0.39 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1283678331 17q24.3 17 69308315C> G null V L 175 175 missense 0.021 benign 0.64 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1203859414 17q24.3 17 69308311A> G null L S 176 176 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs764546589 17q24.3 17 69308309G> T null Q K 177 177 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1385049159 17q24.3 17 69308308T> G null Q P 177 177 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11544715 pubmed:12504089 17q24.3 17 69308306C> T null A T 178 178 0.124 missense 0.011 benign 0.33 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1234005863 17q24.3 17 69308303A> T null S T 179 179 missense 0.317 benign 0.11 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1272688957 17q24.3 17 69308300T> C null I V 180 180 missense 0.802 possibly damaging 0.03 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1370175706 17q24.3 17 69308297C> T null D N 181 181 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs963351666 17q24.3 17 69308294C> A null A S 182 182 missense 0.257 benign 0.08 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1438236405 17q24.3 17 69308291C> A null A S 183 183 missense 0.594 possibly damaging 0.1 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs368136142 17q24.3 17 69308288T> C null I V 184 184 missense 0.715 possibly damaging 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs774263194 17q24.3 17 69308281T> C null Q R 186 186 missense 0.119 benign 0.07 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1415050142 17q24.3 17 69306952C> A null L F 187 187 missense 0.027 benign 0.17 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1178548197 17q24.3 17 69306949C> A null K N 188 188 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1239356443 17q24.3 17 69306948T> C null T A 189 189 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139696278 17q24.3 17 69306944T> C null N S 190 190 2.0E-4 missense 0.932 probably damaging 0.02 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs767820577 17q24.3 17 69306942C> T null V I 191 191 missense 0.001 benign 0.42 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,NCI-TCGA,gnomAD rs751717780 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.3 17 69306936G> A null L F 193 193 missense 0.003 benign 0.11 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs751717780 17q24.3 17 69306936G> T null L I 193 193 missense 0.034 benign 0.13 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs766441037 17q24.3 17 69306931C> A null W C 194 194 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs762965233 17q24.3 17 69306923A> T null L Q 197 197 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1264061494 17q24.3 17 69306921C> T null E K 198 198 missense 0.024 benign 0.35 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1321694438 17q24.3 17 69306915T> C null T A 200 200 missense 0.78 possibly damaging 0.16 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs776573075 17q24.3 17 69306914G> A null T I 200 200 missense 0.714 possibly damaging 0.76 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1482582183 17q24.3 17 69306912T> C null K E 201 201 missense 0.119 benign 0.19 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1239513292 17q24.3 17 69306911T> C null K R 201 201 missense 0.006 benign 0.56 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 Ensembl rs992032843 17q24.3 17 69306905A> G null V A 203 203 missense 0.589 possibly damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1211242905 17q24.3 17 69306902A> G null I T 204 204 missense 0.13 benign 0.04 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs768541929 17q24.3 17 69306900T> C null M V 205 205 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1256990493 17q24.3 17 69306896C> T null G E 206 206 missense 0.368 benign 0.14 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed rs775128942 17q24.3 17 69306884A> C null V G 210 210 missense 0.024 benign 0.2 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC rs760562346 17q24.3 17 69306885C> T null V I 210 210 missense 0.068 benign 0.59 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1319324560 17q24.3 17 69306874T> C null I M 213 213 missense 0.96 probably damaging 0.15 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs771818111 17q24.3 17 69306876T> C null I V 213 213 missense 0.055 benign 0.61 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ExAC,TOPMed,gnomAD rs139545118 17q24.3 17 69306869G> A null T I 215 215 3.99E-4 missense 0.503 possibly damaging 0.36 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ExAC,TOPMed,gnomAD rs139545118 17q24.3 17 69306869G> T null T N 215 215 3.99E-4 missense 0.007 benign 0.6 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs748755863 17q24.3 17 69306864G> A null P S 217 217 missense 0.476 possibly damaging 0.25 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,NCI-TCGA,TOPMed,gnomAD rs756547724 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q24.3 17 69306861G> A null R * 218 218 stop gained 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ExAC,TOPMed,gnomAD rs559305999 17q24.3 17 69306860C> T null R Q 218 218 2.0E-4 missense 0.931 probably damaging 0.09 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ExAC,TOPMed,gnomAD rs200016446 17q24.3 17 69306846T> C null I V 223 223 2.0E-4 missense 0.309 benign 0.1 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs755292717 17q24.3 17 69306842T> C null Y C 224 224 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1164312492 17q24.3 17 69306832T> C null I M 227 227 missense 0.245 benign 0.1 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,gnomAD rs577192827 17q24.3 17 69306831C> T null A T 228 228 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1416580381 17q24.3 17 69306830G> A null A V 228 228 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1241411471 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.3 17 69306824G> A null S L 230 230 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs766540082 17q24.3 17 69306817A> T null F L 232 232 missense 0.302 benign 0.18 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs763053145 17q24.3 17 69306815C> G null G A 233 233 missense 0.969 probably damaging 1.0 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs763053145 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.3 17 69306815C> T null G E 233 233 missense 0.997 probably damaging 0.1 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1458817526 17q24.3 17 69306812T> C null Y C 234 234 missense 0.055 benign 0.06 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs775425255 17q24.3 17 69306803G> T null A E 237 237 missense 0.989 probably damaging 0.05 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,gnomAD rs760520355 17q24.3 17 69306804C> T null A T 237 237 missense 0.974 probably damaging 0.39 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs771770671 17q24.3 17 69306798G> C null H D 239 239 missense 0.675 possibly damaging 0.03 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed,gnomAD rs771770671 17q24.3 17 69306798G> T null H N 239 239 missense 0.096 benign 0.82 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 Ensembl rs1567780053 17q24.3 17 69306795T> C null I V 240 240 missense 0.076 benign 0.73 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1455915481 17q24.3 17 69306791A> C null V G 241 241 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs544106230 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.3 17 69306792C> T null V I 241 241 2.0E-4 missense 0.95 probably damaging 0.04 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1401324278 17q24.3 17 69306788G> T null A E 242 242 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 gnomAD rs1449192565 17q24.3 17 69306789C> T null A T 242 242 missense 0.529 possibly damaging 0.13 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1325556290 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q24.3 17 69306786C> T null E K 243 243 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs140653807 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q24.3 17 69306780C> A null E * 245 245 stop gained 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1351733432 17q24.3 17 69306779T> C null E G 245 245 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs140653807 17q24.3 17 69306780C> T null E K 245 245 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 ExAC,TOPMed rs748843899 17q24.3 17 69306770A> G null I T 248 248 missense 0.024 benign 0.0 deleterious 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed rs1343088476 17q24.3 17 69306771T> C null I V 248 248 missense 0.0 benign 0.13 tolerated 0 A0A075B778 ABCA5 ATP-binding cassette sub-family A member 5 TOPMed,gnomAD rs1180912574 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q24.3 17 69306765C> A null E * 250 250 stop gained 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1185655631 19p13.13 19 12720968G> A null Q * 4 4 stop gained 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs775049018 19p13.13 19 12720960G> C null D E 6 6 missense 0.327 benign 0.39 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs775049018 19p13.13 19 12720960G> T null D E 6 6 missense 0.327 benign 0.39 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1260118374 19p13.13 19 12720957C> G null E D 7 7 missense 0.011 benign 0.24 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1243739501 19p13.13 19 12720959C> T null E K 7 7 missense 0.079 benign 0.22 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1466487847 19p13.13 19 12720946T> C null Q R 11 11 missense 0.007 benign 0.32 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1247803319 19p13.13 19 12720934T> C null Q R 15 15 missense 0.245 benign 0.05 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs745596212 19p13.13 19 12720926T> G null K Q 18 18 missense 0.0 benign 0.13 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs749287575 19p13.13 19 12720907T> C null N S 24 24 missense 0.001 benign 0.18 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs749287575 19p13.13 19 12720907T> G null N T 24 24 missense 0.04 benign 0.03 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1363859689 19p13.13 19 12720904G> A null T I 25 25 missense 0.409 benign 0.03 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs74512758 19p13.13 19 12720905T> G null T P 25 25 missense 0.67 possibly damaging 0.05 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1304956958 19p13.13 19 12720902C> T null A T 26 26 missense 0.0 benign 0.59 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1169526445 19p13.13 19 12720890T> A null I F 30 30 missense 0.0 benign 0.12 tolerated 0 A0A075B780 TNPO2 Transportin-2 1000Genomes,ExAC,gnomAD rs535364507 19p13.13 19 12720888G> C null I M 30 30 2.0E-4 missense 0.0 benign 0.13 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs781230703 19p13.13 19 12720889A> G null I T 30 30 missense 0.0 benign 0.59 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1187099520 19p13.13 19 12720881C> T null D N 33 33 missense 0.0 benign 0.09 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs758877788 19p13.13 19 12719329T> C null K R 36 36 missense 0.143 benign 0.05 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1178569381 19p13.13 19 12719320T> C null N S 39 39 missense 0.01 benign 0.19 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1466484094 19p13.13 19 12719316C> G null Q H 40 40 missense 0.005 benign 0.08 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs757791948 19p13.13 19 12719293A> G null L P 48 48 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs1568339496 19p13.13 19 12719164A> C null S A 64 64 missense 0.655 possibly damaging 0.07 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1285604073 19p13.13 19 12719146G> A null L F 70 70 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs765968488 19p13.13 19 12719134C> G null V L 74 74 missense 0.011 benign 0.22 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs765968488 19p13.13 19 12719134C> T null V M 74 74 missense 0.851 possibly damaging 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs750214748 19p13.13 19 12719124T> C null H R 77 77 missense 0.015 benign 0.23 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs927498421 cosmic curated [Cosmic]: liver cosmic_study:381 19p13.13 19 12719117C> A null Q H 79 79 missense 0.001 benign 0.33 tolerated 1 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs765136752 19p13.13 19 12719106G> T null P H 83 83 missense 0.409 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 1000Genomes,gnomAD rs200434050 19p13.13 19 12719107G> A null P S 83 83 2.0E-4 missense 0.003 benign 0.15 tolerated 0 A0A075B780 TNPO2 Transportin-2 1000Genomes,gnomAD rs200434050 19p13.13 19 12719107G> T null P T 83 83 2.0E-4 missense 0.005 benign 0.12 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs761631909 19p13.13 19 12719104G> T null P T 84 84 missense 0.0 benign 0.33 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs760785282 19p13.13 19 12719069G> T null N K 95 95 missense 0.003 benign 0.93 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1338574661 19p13.13 19 12719032T> C null I V 108 108 missense 0.0 benign 1.0 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1333570393 19p13.13 19 12715734G> A null L F 111 111 missense 0.445 benign 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs757941948 19p13.13 19 12715719C> A null A S 116 116 missense 0.007 benign 0.26 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,NCI-TCGA,TOPMed,gnomAD rs757941948 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12715719C> T null A T 116 116 missense 0.029 benign 0.22 tolerated 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs773716601 19p13.13 19 12715710C> T null G S 119 119 missense 0.0 benign 0.58 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs778576006 19p13.13 19 12715707C> T null E K 120 120 missense 0.04 benign 0.27 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1179466129 19p13.13 19 12715650C> T null D N 139 139 missense 0.003 benign 0.22 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs1358215009 19p13.13 19 12715485G> T null D E 162 162 missense 0.0 benign 0.27 tolerated 0 A0A075B780 TNPO2 Transportin-2 ESP,ExAC,TOPMed,gnomAD rs369773308 19p13.13 19 12715478C> A null A S 165 165 missense 0.006 benign 0.68 tolerated 0 A0A075B780 TNPO2 Transportin-2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369773308 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p13.13 19 12715478C> T null A T 165 165 missense 0.001 benign 0.55 tolerated 1 A0A075B780 TNPO2 Transportin-2 gnomAD rs1270182097 19p13.13 19 12715459T> C null N S 171 171 missense 0.0 benign 0.1 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC rs776990585 19p13.13 19 12715444T> C null K R 176 176 missense 0.012 benign 0.06 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1291299846 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12715405C> T null R Q 189 189 missense 0.028 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1351153811 19p13.13 19 12715314T> C null I V 193 193 missense 0.0 benign 0.76 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1295567219 19p13.13 19 12715311C> T null A T 194 194 missense 0.179 benign 0.2 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1350256045 19p13.13 19 12715305C> T null V M 196 196 missense 0.162 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs866739750 cosmic curated [Cosmic]: endometrium cosmic_study:419 19p13.13 19 12715296A> G null F L 199 199 missense 0.368 benign 0.05 tolerated 1 A0A075B780 TNPO2 Transportin-2 Ensembl rs1568337860 19p13.13 19 12715291G> C null I M 200 200 missense 0.081 benign 0.05 deleterious 0 A0A075B780 TNPO2 Transportin-2 ESP,ExAC,gnomAD rs370177079 19p13.13 19 12715289A> G null M T 201 201 missense 0.0 benign 0.78 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1040421615 19p13.13 19 12715290T> C null M V 201 201 missense 0.0 benign 0.55 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1194257803 19p13.13 19 12715284G> C null R G 203 203 missense 0.034 benign 0.23 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1479854591 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12715283C> T null R Q 203 203 missense 0.017 benign 0.26 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1194257803 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12715284G> A null R W 203 203 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs1014247431 19p13.13 19 12715281C> T null A T 204 204 missense 0.0 benign 0.85 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1192637701 19p13.13 19 12715277T> G null Q P 205 205 missense 0.0 benign 0.18 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1251125974 19p13.13 19 12715271A> G null L P 207 207 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1399924797 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12715159G> T null A D 220 220 missense 0.255 benign 0.59 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1466144403 19p13.13 19 12715151C> T null V M 223 223 missense 0.139 benign 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1156526880 19p13.13 19 12715129C> T null R Q 230 230 missense 0.227 benign 0.09 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1357610053 19p13.13 19 12715120A> G null V A 233 233 missense 0.482 possibly damaging 0.06 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1381331208 19p13.13 19 12715115G> A null R C 235 235 missense 0.889 possibly damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,NCI-TCGA,TOPMed,gnomAD rs776108182 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p13.13 19 12715114C> T null R H 235 235 missense 0.023 benign 0.17 tolerated 1 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs768375108 19p13.13 19 12715102A> G null M T 239 239 missense 0.0 benign 0.09 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1258927988 19p13.13 19 12715094C> T null E K 242 242 missense 0.89 possibly damaging 0.26 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1277710142 19p13.13 19 12715087C> T null R Q 244 244 missense 0.241 benign 0.05 deleterious 0 A0A075B780 TNPO2 Transportin-2 ESP,gnomAD rs373758530 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 19p13.13 19 12715088G> A null R W 244 244 missense 0.968 probably damaging 0.04 deleterious 1 A0A075B780 TNPO2 Transportin-2 gnomAD rs1259038197 19p13.13 19 12715070G> A null P S 250 250 missense 0.22 benign 0.05 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs775357579 19p13.13 19 12715067G> C null H D 251 251 missense 0.181 benign 0.07 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1354613369 19p13.13 19 12715065G> T null H Q 251 251 missense 0.017 benign 0.13 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1309745914 19p13.13 19 12715061G> T null H N 253 253 missense 0.0 benign 0.62 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1216294820 19p13.13 19 12715051A> G null I T 256 256 missense 0.156 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs984557344 19p13.13 19 12714927T> C null R G 262 262 missense 0.037 benign 0.13 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1435701156 19p13.13 19 12714915G> C null H D 266 266 missense 0.0 benign 0.55 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1210170730 19p13.13 19 12714908T> C null E G 268 268 missense 0.028 benign 0.03 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs763715165 19p13.13 19 12714872G> A null T M 280 280 missense 0.342 benign 0.04 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1320053806 19p13.13 19 12714870G> T null L M 281 281 missense 0.192 benign 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1305498625 19p13.13 19 12714864C> T null E K 283 283 missense 0.007 benign 0.03 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs759282216 19p13.13 19 12714855T> C null I V 286 286 missense 0.0 benign 0.43 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs1391226396 19p13.13 19 12714830T> G null H P 294 294 missense 0.608 possibly damaging 0.16 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1422765999 19p13.13 19 12711603T> C null I V 301 301 missense 0.0 benign 1.0 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1215459207 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p13.13 19 12711578G> A null S L 309 309 missense 0.096 benign 0.0 deleterious 1 A0A075B780 TNPO2 Transportin-2 gnomAD rs1168282841 19p13.13 19 12711570C> T null D N 312 312 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs955454370 19p13.13 19 12711563A> G null I T 314 314 missense 0.443 benign 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1407043017 19p13.13 19 12711449C> T null E K 322 322 missense 0.139 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs768197851 19p13.13 19 12711418T> C null D G 332 332 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs1217325868 19p13.13 19 12711397T> C null K R 339 339 missense 0.005 benign 0.57 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,NCI-TCGA,gnomAD rs778630699 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p13.13 19 12711391C> T null R H 341 341 missense 0.486 possibly damaging 0.04 deleterious 1 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs757235155 19p13.13 19 12711388G> C null T R 342 342 missense 0.112 benign 0.03 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs764156137 19p13.13 19 12711382G> A null T I 344 344 missense 0.091 benign 0.19 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1438404503 19p13.13 19 12711370T> C null E G 348 348 missense 0.009 benign 0.2 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs752736621 19p13.13 19 12711368C> T null A T 349 349 missense 0.017 benign 0.54 tolerated 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs1435314584 19p13.13 19 12711364T> C null E G 350 350 missense 0.0 benign 0.29 tolerated 0 A0A075B780 TNPO2 Transportin-2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374385228 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12711361C> T null R Q 351 351 missense 0.0 benign 0.55 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs767714421 19p13.13 19 12711362G> A null R W 351 351 missense 0.339 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1170717599 19p13.13 19 12711359G> A null P S 352 352 missense 0.0 benign 0.75 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1432270766 19p13.13 19 12711356C> T null D N 353 353 missense 0.056 benign 0.38 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1241681407 19p13.13 19 12711352C> G null G A 354 354 missense 0.01 benign 0.32 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1332811088 19p13.13 19 12711350A> G null S P 355 355 missense 0.0 benign 0.3 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs763419626 19p13.13 19 12711347C> T null E K 356 356 missense 0.041 benign 0.21 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs763419626 19p13.13 19 12711347C> G null E Q 356 356 missense 0.176 benign 0.23 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs770308688 19p13.13 19 12711342G> T null D E 357 357 missense 0.005 benign 0.4 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs773671295 19p13.13 19 12711343T> C null D G 357 357 missense 0.012 benign 0.26 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1038632332 19p13.13 19 12711341C> T null A T 358 358 missense 0.018 benign 0.58 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs746447585 19p13.13 19 12711340G> A null A V 358 358 missense 0.006 benign 0.31 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs377066702 19p13.13 19 12711330G> C null D E 361 361 missense 0.005 benign 0.82 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs778735251 19p13.13 19 12711329C> T null D N 362 362 missense 0.531 possibly damaging 0.33 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs778735251 19p13.13 19 12711329C> A null D Y 362 362 missense 0.94 probably damaging 0.2 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs753705672 19p13.13 19 12711326C> T null D N 363 363 missense 0.969 probably damaging 0.06 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs777792558 19p13.13 19 12711322T> G null D A 364 364 missense 0.715 possibly damaging 0.04 deleterious 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs867515394 19p13.13 19 12711311A> G null S P 368 368 missense 0.053 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs1465153961 19p13.13 19 12711308C> T null D N 369 369 missense 0.053 benign 0.11 tolerated 0 A0A075B780 TNPO2 Transportin-2 Ensembl,NCI-TCGA rs751866827 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12710755G> A null A V 379 379 missense 0.6 possibly damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs766531833 19p13.13 19 12710734A> G null V A 386 386 missense 0.099 benign 0.38 tolerated 0 A0A075B780 TNPO2 Transportin-2 ESP,ExAC,gnomAD rs368171911 19p13.13 19 12710732A> G null F L 387 387 missense 0.213 benign 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs937164324 19p13.13 19 12710728C> T null R Q 388 388 missense 0.009 benign 0.51 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs750771819 19p13.13 19 12710729G> A null R W 388 388 missense 0.59 possibly damaging 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1303722126 19p13.13 19 12710723C> T null E K 390 390 missense 0.17 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1339257322 19p13.13 19 12710714G> A null P S 393 393 missense 0.142 benign 0.1 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs762350132 19p13.13 19 12710701G> A null P L 397 397 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs998462839 19p13.13 19 12710690C> T null G S 401 401 missense 0.003 benign 0.06 tolerated 0 A0A075B780 TNPO2 Transportin-2 1000Genomes,ExAC,gnomAD rs540927121 19p13.13 19 12710674G> T null P H 406 406 5.99E-4 missense 0.003 benign 0.2 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs764680710 19p13.13 19 12710675G> A null P S 406 406 missense 0.0 benign 0.73 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs764680710 19p13.13 19 12710675G> T null P T 406 406 missense 0.0 benign 0.62 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1289065774 19p13.13 19 12710670C> G null E D 407 407 missense 0.0 benign 1.0 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1261123258 19p13.13 19 12710672C> T null E K 407 407 missense 0.005 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1261123258 19p13.13 19 12710672C> G null E Q 407 407 missense 0.0 benign 0.03 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1244770418 19p13.13 19 12710671T> A null E V 407 407 missense 0.001 benign 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1196126874 19p13.13 19 12710665A> G null V A 409 409 missense 0.059 benign 0.38 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1360978882 19p13.13 19 12710663C> T null V I 410 410 missense 0.0 benign 0.73 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1209060093 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12710653G> A null S L 413 413 missense 0.213 benign 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs900382240 19p13.13 19 12706789A> C null M R 426 426 missense 0.056 benign 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 ESP,ExAC,TOPMed,gnomAD rs375584345 19p13.13 19 12706790T> C null M V 426 426 missense 0.013 benign 0.08 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs991706530 19p13.13 19 12706784C> G null G R 428 428 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs991706530 19p13.13 19 12706784C> T null G S 428 428 missense 0.381 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1206465210 19p13.13 19 12706778C> G null V L 430 430 missense 0.0 benign 0.33 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1277286220 19p13.13 19 12706774G> A null P L 431 431 missense 0.049 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1285568604 19p13.13 19 12706766G> A null P S 434 434 missense 0.589 possibly damaging 0.11 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1349567063 19p13.13 19 12706759A> C null L R 436 436 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1280553254 19p13.13 19 12706755G> C null I M 437 437 missense 0.886 possibly damaging 0.08 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1312105209 19p13.13 19 12706732G> A null S L 445 445 missense 0.044 benign 0.03 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1352480049 19p13.13 19 12706721C> A null A S 449 449 missense 0.102 benign 0.16 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs757503174 19p13.13 19 12706716C> G null L F 450 450 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs754146074 19p13.13 19 12706711C> T null R H 452 452 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs754146074 19p13.13 19 12706711C> A null R L 452 452 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs1158223192 19p13.13 19 12706703C> T null A T 455 455 missense 0.0 benign 1.0 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs1312004555 19p13.13 19 12706684C> T null R H 461 461 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1470462475 19p13.13 19 12706685G> T null R S 461 461 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs1194698103 19p13.13 19 12706679C> T null A T 463 463 missense 0.311 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1184825366 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.13 19 12706652C> T null D N 472 472 missense 0.006 benign 0.14 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs764732756 19p13.13 19 12706647C> T null M I 473 473 missense 0.0 benign 0.17 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1352051516 19p13.13 19 12706637G> A null P S 477 477 missense 0.01 benign 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs760494210 19p13.13 19 12706623C> G null E D 481 481 missense 0.154 benign 0.36 tolerated 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs1026133577 19p13.13 19 12706614T> A null K N 484 484 missense 0.015 benign 0.08 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs993385925 19p13.13 19 12706613G> A null R C 485 485 missense 0.302 benign 0.06 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs928860731 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12706335G> A null T M 510 510 missense 0.012 benign 0.1 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1371386587 19p13.13 19 12706315T> C null S G 517 517 missense 0.0 benign 0.47 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs780552125 19p13.13 19 12706314C> A null S I 517 517 missense 0.093 benign 0.13 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs773232585 19p13.13 19 12706312A> G null Y H 518 518 missense 0.0 benign 0.54 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1391567186 19p13.13 19 12706297G> A null L F 523 523 missense 0.172 benign 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs752390207 19p13.13 19 12706262G> T null N K 534 534 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs1369974477 19p13.13 19 12706255T> C null I V 537 537 missense 0.052 benign 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1157445525 19p13.13 19 12706252G> A null L F 538 538 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC rs750505125 19p13.13 19 12706212T> G null H P 551 551 missense 0.0 benign 0.23 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs765445392 19p13.13 19 12706209T> G null H P 552 552 missense 0.038 benign 0.13 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs762012427 19p13.13 19 12706206A> T null L H 553 553 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs762012427 19p13.13 19 12706206A> G null L P 553 553 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs776940467 19p13.13 19 12706203T> G null N T 554 554 missense 0.095 benign 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs761034195 19p13.13 19 12706197G> A null P L 556 556 missense 0.017 benign 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs1568332808 19p13.13 19 12705765A> G null Y H 558 558 missense 0.203 benign 0.03 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1288569141 19p13.13 19 12705756T> C null K E 561 561 missense 0.003 benign 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs867005873 19p13.13 19 12705747G> A null P S 564 564 missense 0.803 possibly damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs867005873 19p13.13 19 12705747G> T null P T 564 564 missense 0.54 possibly damaging 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs967729951 19p13.13 19 12705741G> C null L V 566 566 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs866067372 19p13.13 19 12705733C> A null Q H 568 568 missense 0.001 benign 0.07 tolerated 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs868190570 19p13.13 19 12705735G> T null Q K 568 568 missense 0.011 benign 0.44 tolerated 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs868338456 19p13.13 19 12705730C> A null K N 569 569 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs867826218 19p13.13 19 12705721C> A null E D 572 572 missense 0.0 benign 0.62 tolerated 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs865811996 19p13.13 19 12705715C> A null K N 574 574 missense 0.014 benign 0.04 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1445267487 19p13.13 19 12705572G> T null Q K 595 595 missense 0.058 benign 0.17 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1393152544 19p13.13 19 12705565C> T null G D 597 597 missense 0.52 possibly damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1185508870 19p13.13 19 12705544G> A null P L 604 604 missense 0.028 benign 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1418144080 19p13.13 19 12705545G> A null P S 604 604 missense 0.021 benign 0.03 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs1244183587 19p13.13 19 12705542C> T null V I 605 605 missense 0.028 benign 0.08 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1217195093 19p13.13 19 12705533G> A null R C 608 608 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1468403093 19p13.13 19 12705517A> T null V E 613 613 missense 0.836 possibly damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1335485424 19p13.13 19 12705497C> T null A T 620 620 missense 0.048 benign 0.38 tolerated 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs866646810 19p13.13 19 12705494T> G null M L 621 621 missense 0.005 benign 0.67 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs755174619 19p13.13 19 12705391G> A null T I 624 624 missense 0.0 benign 0.2 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs917180904 19p13.13 19 12705386G> C null H D 626 626 missense 0.0 benign 0.32 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1198999299 19p13.13 19 12705385T> C null H R 626 626 missense 0.0 benign 0.27 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1455065929 19p13.13 19 12705383G> A null P S 627 627 missense 0.037 benign 0.04 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1208175548 19p13.13 19 12705368C> T null A T 632 632 missense 0.007 benign 0.43 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1312731598 19p13.13 19 12705322C> A null G V 647 647 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1308324707 19p13.13 19 12705301C> T null G D 654 654 missense 0.0 benign 0.57 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs759146870 19p13.13 19 12705302C> T null G S 654 654 missense 0.0 benign 0.76 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,TOPMed,gnomAD rs770722987 19p13.13 19 12705288C> G null Q H 658 658 missense 0.0 benign 0.09 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1466831916 19p13.13 19 12705284C> A null V L 660 660 missense 0.047 benign 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs866781975 19p13.13 19 12705278G> A null R C 662 662 missense 0.007 benign 0.05 tolerated 0 A0A075B780 TNPO2 Transportin-2 ESP,ExAC,TOPMed,gnomAD rs373020411 19p13.13 19 12705277C> T null R H 662 662 missense 0.001 benign 0.08 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs866781975 19p13.13 19 12705278G> T null R S 662 662 missense 0.003 benign 1.0 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1421030883 19p13.13 19 12705272T> C null N D 664 664 missense 0.062 benign 0.12 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1187564556 19p13.13 19 12705266T> C null M V 666 666 missense 0.006 benign 0.26 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs781105395 19p13.13 19 12705245T> G null M L 673 673 missense 0.15 benign 0.75 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs781105395 19p13.13 19 12705245T> A null M L 673 673 missense 0.15 benign 0.75 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed,gnomAD rs1459945019 19p13.13 19 12703797G> A null S L 676 676 missense 0.036 benign 0.25 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1396782029 19p13.13 19 12703791G> A null P L 678 678 missense 0.106 benign 0.03 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1198928706 19p13.13 19 12703782C> T null R Q 681 681 missense 0.934 probably damaging 0.04 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1164109661 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12703783G> A null R W 681 681 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs980749991 19p13.13 19 12703767G> A null A V 686 686 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1451042810 19p13.13 19 12703756C> A null D Y 690 690 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs969489977 19p13.13 19 12703733G> C null I M 697 697 missense 0.057 benign 0.1 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1195515950 19p13.13 19 12703714C> T null A T 704 704 missense 0.0 benign 0.17 tolerated 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs551494142 19p13.13 19 12703516C> T null M I 707 707 missense 0.007 benign 0.1 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1256316255 19p13.13 19 12703510A> C null I M 709 709 missense 0.059 benign 0.2 tolerated 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs112263175 19p13.13 19 12703511A> G null I T 709 709 missense 0.122 benign 0.41 tolerated 0 A0A075B780 TNPO2 Transportin-2 1000Genomes,ExAC,gnomAD rs557913964 19p13.13 19 12703512T> C null I V 709 709 5.99E-4 missense 0.0 benign 0.51 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1428194592 19p13.13 19 12703508A> C null L R 710 710 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1408636107 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12703509G> C null L V 710 710 missense 0.395 benign 0.05 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs753603568 19p13.13 19 12703502G> A null T I 712 712 missense 0.003 benign 0.21 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1348694909 19p13.13 19 12703494T> A null N Y 715 715 missense 0.093 benign 0.0 deleterious 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1323602985 19p13.13 19 12703488C> G null E Q 717 717 missense 0.015 benign 0.04 deleterious 0 A0A075B780 TNPO2 Transportin-2 NCI-TCGA,gnomAD rs778731425 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.13 19 12703476C> T null V I 721 721 missense 0.825 possibly damaging 0.01 deleterious 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1327739433 19p13.13 19 12703460G> A null T I 726 726 missense 0.005 benign 0.32 tolerated 0 A0A075B780 TNPO2 Transportin-2 ESP,ExAC,gnomAD rs374137187 19p13.13 19 12703451A> G null I T 729 729 missense 0.908 possibly damaging 0.07 tolerated 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs759592045 19p13.13 19 12703429C> T null M I 736 736 missense 0.015 benign 0.14 tolerated 0 A0A075B780 TNPO2 Transportin-2 Ensembl rs375994457 19p13.13 19 12702904G> T null P T 742 742 missense 0.716 possibly damaging 0.06 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1322582359 19p13.13 19 12702897A> G null V A 744 744 missense 0.009 benign 0.09 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs1263070174 19p13.13 19 12702882T> C null N S 749 749 missense 0.0 benign 0.95 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1213789008 19p13.13 19 12702874C> T null V M 752 752 missense 0.806 possibly damaging 0.13 tolerated 0 A0A075B780 TNPO2 Transportin-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs16978630 19p13.13 19 12702869T> G null E D 753 753 0.1492 missense 0.0 benign 0.37 tolerated 0 A0A075B780 TNPO2 Transportin-2 TOPMed rs979367479 19p13.13 19 12702870T> C null E G 753 753 missense 0.003 benign 0.18 tolerated 0 A0A075B780 TNPO2 Transportin-2 ESP,ExAC,TOPMed,gnomAD rs371119871 19p13.13 19 12702860G> C null N K 756 756 missense 0.274 benign 0.06 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1435698319 19p13.13 19 12702859G> A null R * 757 757 stop gained 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs777337990 19p13.13 19 12702858C> A null R L 757 757 missense 0.073 benign 0.02 deleterious 0 A0A075B780 TNPO2 Transportin-2 ExAC,gnomAD rs777337990 19p13.13 19 12702858C> T null R Q 757 757 missense 0.006 benign 0.13 tolerated 0 A0A075B780 TNPO2 Transportin-2 gnomAD rs1291318907 19p13.13 19 12702855G> A null P L 758 758 missense 0.053 benign 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1372314794 18q11.2 18 23689694C> A null A D 4 4 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1004550988 18q11.2 18 23689693G> C null A P 4 4 missense 0.146 benign 0.02 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1568076555 18q11.2 18 23689696G> T null A S 5 5 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs899550243 18q11.2 18 23689699C> G null R G 6 6 missense 0.001 benign 0.11 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1217483724 18q11.2 18 23689706G> A null R Q 8 8 missense 0.001 benign 0.47 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1000956325 18q11.2 18 23689705C> T null R W 8 8 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1197054682 18q11.2 18 23689709G> A null G D 9 9 missense 0.001 benign 0.06 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1014633904 18q11.2 18 23689712G> C null R P 10 10 missense 0.415 benign 0.21 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1053428428 18q11.2 18 23689714G> A null A T 11 11 missense 0.011 benign 0.12 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs769479220 18q11.2 18 23689718T> A null L Q 12 12 missense 0.003 benign 0.07 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1309244363 18q11.2 18 23689720G> C null G R 13 13 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1309244363 18q11.2 18 23689720G> A null G R 13 13 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1157533708 18q11.2 18 23689721G> T null G V 13 13 missense 0.003 benign 0.05 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1255233442 18q11.2 18 23689727T> C null V A 15 15 missense 0.003 benign 0.26 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1009802661 18q11.2 18 23689735C> G null P A 18 18 missense 0.003 benign 1.0 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs748928607 18q11.2 18 23689736C> G null P R 18 18 missense 0.059 benign 0.32 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1027667940 18q11.2 18 23689748T> C null L P 22 22 missense 0.028 benign 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs768021480 18q11.2 18 23689757T> C null V A 25 25 missense 0.0 benign 0.2 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1033783069 18q11.2 18 23689756G> T null V L 25 25 missense 0.0 benign 0.91 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1033783069 18q11.2 18 23689756G> C null V L 25 25 missense 0.0 benign 0.91 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1337980671 18q11.2 18 23689763G> T null R L 27 27 missense 0.0 benign 0.75 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1337980671 18q11.2 18 23689763G> C null R P 27 27 missense 0.0 benign 0.26 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1337980671 18q11.2 18 23689763G> A null R Q 27 27 missense 0.0 benign 0.37 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs761308269 18q11.2 18 23689765G> A null V M 28 28 missense 0.003 benign 0.11 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1407288295 18q11.2 18 23689771C> A null P T 30 30 missense 0.039 benign 0.45 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1363412150 18q11.2 18 23689780G> C null G R 33 33 missense 0.003 benign 0.36 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs919247921 18q11.2 18 23689787C> T null T I 35 35 missense 0.007 benign 0.21 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1276923266 18q11.2 18 23689793G> A null R Q 37 37 missense 0.0 benign 0.56 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs754299787 18q11.2 18 23689792C> T null R W 37 37 missense 0.0 benign 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1312661037 18q11.2 18 23689798C> G null P A 39 39 missense 0.039 benign 0.38 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1283547413 18q11.2 18 23689801G> C null G R 40 40 missense 0.0 benign 0.3 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs866228140 18q11.2 18 23689811C> T null A V 43 43 missense 0.001 benign 0.31 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1190640738 18q11.2 18 23689817T> C null L P 45 45 missense 0.227 benign 0.13 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs574627157 18q11.2 18 23689842C> A null N K 53 53 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1418751640 18q11.2 18 23689844T> C null L P 54 54 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1568077091 18q11.2 18 23689856C> T null A V 58 58 missense 0.936 probably damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1292369834 18q11.2 18 23689862T> C null I T 60 60 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1189430078 18q11.2 18 23689871C> T null T I 63 63 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs749122081 18q11.2 18 23689874C> G null A G 64 64 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1306896054 18q11.2 18 23689877C> A null T N 65 65 missense 0.936 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,TOPMed,gnomAD rs140590091 18q11.2 18 23689881C> A null C * 66 66 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,TOPMed,gnomAD rs140590091 18q11.2 18 23689881C> G null C W 66 66 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs747638543 18q11.2 18 23689892G> T null G V 70 70 missense 0.099 benign 0.17 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs771490505 18q11.2 18 23689895C> T null P L 71 71 missense 0.096 benign 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1490471520 18q11.2 18 23689903G> A null G R 74 74 missense 0.003 benign 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs921871575 18q11.2 18 23689910C> T null P L 76 76 missense 0.005 benign 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1177279251 18q11.2 18 23689915C> T null P S 78 78 missense 0.007 benign 0.15 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1177279251 18q11.2 18 23689915C> A null P T 78 78 missense 0.142 benign 0.13 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1440720798 18q11.2 18 23689920G> T null E D 79 79 missense 0.044 benign 0.35 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1380128098 18q11.2 18 23689918G> A null E K 79 79 missense 0.077 benign 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1224613367 18q11.2 18 23689925A> T null Y F 81 81 missense 0.028 benign 0.39 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC rs772833484 18q11.2 18 23689927T> G null C G 82 82 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1160616452 18q11.2 18 23689931A> C null K T 83 83 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1039486003 18q11.2 18 23689935G> C null L F 84 84 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1403184576 18q11.2 18 23689939G> C null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1403184576 18q11.2 18 23689939G> A null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs931782907 18q11.2 18 23689942G> A null G S 87 87 missense 1.0 probably damaging 0.18 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs921024758 18q11.2 18 23689946C> A null P H 88 88 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs921024758 18q11.2 18 23689946C> T null P L 88 88 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1375185507 18q11.2 18 23689945C> T null P S 88 88 missense 0.999 probably damaging 0.12 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs890203432 18q11.2 18 23689951G> T null A S 90 90 missense 0.316 benign 0.45 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs890203432 18q11.2 18 23689951G> A null A T 90 90 missense 0.699 possibly damaging 0.33 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1329201807 18q11.2 18 23689955C> T null P L 91 91 missense 0.333 benign 0.19 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1427872579 18q11.2 18 23689957G> C null G R 92 92 missense 0.522 possibly damaging 0.19 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs775836849 18q11.2 18 23689961G> A null S N 93 93 missense 0.175 benign 0.5 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs779777548 18q11.2 18 23689962C> A null S R 93 93 missense 0.006 benign 0.51 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1258199814 18q11.2 18 23689970C> G null T S 96 96 missense 0.138 benign 0.2 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1281009296 18q11.2 18 23689969A> T null T S 96 96 missense 0.138 benign 0.2 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1227952534 18q11.2 18 23689974C> G null I M 97 97 missense 0.925 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1354579333 18q11.2 18 23689972A> G null I V 97 97 missense 0.554 possibly damaging 0.09 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1290726127 18q11.2 18 23689975C> T null Q * 98 98 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1290726127 18q11.2 18 23689975C> A null Q K 98 98 missense 0.426 benign 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs746557126 18q11.2 18 23713920G> A null G S 99 99 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1253881051 18q11.2 18 23713924A> C null Q P 100 100 missense 0.999 probably damaging 0.09 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs771514230 18q11.2 18 23713930G> A null C Y 102 102 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs777290063 18q11.2 18 23713936A> G null Y C 104 104 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1377516022 18q11.2 18 23713940C> A null C * 105 105 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1568105124 18q11.2 18 23713943T> A null N K 106 106 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1398370129 18q11.2 18 23713952C> A null D E 109 109 missense 0.915 probably damaging 0.1 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1480174207 18q11.2 18 23713962G> T null A S 113 113 missense 0.999 probably damaging 0.1 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs376300620 18q11.2 18 23713971G> A null V I 116 116 missense 0.038 benign 1.0 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs763063287 18q11.2 18 23713978A> G null N S 118 118 missense 0.817 possibly damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs370341052 18q11.2 18 23713981C> T null A V 119 119 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1201416061 18q11.2 18 23713990G> T null G V 122 122 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs199850975 18q11.2 18 23713998C> T null R C 125 125 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs374056674 18q11.2 18 23713999G> A null R H 125 125 missense 0.966 probably damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs199850975 18q11.2 18 23713998C> A null R S 125 125 missense 0.12 benign 0.14 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1391946023 18q11.2 18 23714002G> C null W S 126 126 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs926831631 18q11.2 18 23714014C> G null P R 130 130 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1349504726 18q11.2 18 23714020T> C null L P 132 132 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,NCI-TCGA,gnomAD rs753783219 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23714023C> T null S F 133 133 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,TOPMed,gnomAD rs368091225 18q11.2 18 23714035A> G null Q R 137 137 missense 0.007 benign 0.1 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed rs754978659 18q11.2 18 23714042C> G null N K 139 139 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1458860166 18q11.2 18 23714041A> G null N S 139 139 missense 0.851 possibly damaging 0.04 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs764914982 18q11.2 18 23714044G> A null R K 140 140 missense 0.003 benign 0.29 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs752573543 18q11.2 18 23714046G> A null V I 141 141 missense 0.55 possibly damaging 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs752573543 18q11.2 18 23714046G> C null V L 141 141 missense 0.786 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1174079891 18q11.2 18 23714049A> G null N D 142 142 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs200911045 18q11.2 18 23714056C> G null T S 144 144 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs780915089 18q11.2 18 23714060G> T null L F 145 145 missense 0.964 probably damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs746362681 18q11.2 18 23714061G> A null D N 146 146 missense 0.992 probably damaging 0.08 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1265654188 18q11.2 18 23714068G> A null G E 148 148 missense 0.997 probably damaging 0.11 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs745411667 18q11.2 18 23747943C> T null L F 150 150 missense 0.981 probably damaging 0.04 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs901532494 18q11.2 18 23747946T> G null F V 151 151 missense 0.883 possibly damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1442362084 18q11.2 18 23747950A> G null H R 152 152 missense 0.637 possibly damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs768367241 18q11.2 18 23747955G> A null A T 154 154 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs756651059 18q11.2 18 23747959A> G null Y C 155 155 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs780635647 18q11.2 18 23747962T> C null I T 156 156 missense 0.265 benign 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs749561695 18q11.2 18 23747964T> G null L V 157 157 missense 0.472 possibly damaging 0.07 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs769072031 18q11.2 18 23747970A> C null K Q 159 159 missense 0.99 probably damaging 0.07 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1308096581 18q11.2 18 23747977C> G null A G 161 161 missense 0.998 probably damaging 0.12 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs748360452 18q11.2 18 23747979A> C null N H 162 162 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs772317627 18q11.2 18 23747988C> T null R C 165 165 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs773231537 18q11.2 18 23747989G> A null R H 165 165 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1213710675 18q11.2 18 23747994G> C null D H 167 167 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1254815625 18q11.2 18 23748004T> G null V G 170 170 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs760763985 18q11.2 18 23748014A> C null R S 173 173 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs760763985 18q11.2 18 23748014A> T null R S 173 173 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs780868288 18q11.2 18 23748018G> C null V L 175 175 missense 0.754 possibly damaging 0.37 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,TOPMed,gnomAD rs144385638 18q11.2 18 23748025T> C null F S 177 177 missense 0.091 benign 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs922313361 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23748040C> T null S L 182 182 missense 0.007 benign 0.26 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1167146215 18q11.2 18 23748049A> C null Q P 185 185 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1167146215 18q11.2 18 23748049A> G null Q R 185 185 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1299138241 18q11.2 18 23748058C> A null A D 188 188 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367844923 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23748060C> T null H Y 189 189 missense 0.033 benign 1.0 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1294635498 18q11.2 18 23749433A> G null K E 191 191 missense 0.266 benign 0.16 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC rs762924975 18q11.2 18 23749435A> C null K N 191 191 missense 0.598 possibly damaging 0.06 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl,dbSNP rs1555683785 [ClinVar]: Junctional epidermolysis bullosa gravis of Herlitz 18q11.2 18 23749446T> G null L * 195 195 stop gained 0 Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. MIM:226700 pubmed:20301304,ClinVar:RCV000669282 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1555683785 18q11.2 18 23749446T> C null L S 195 195 missense 0.339 benign 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs768516503 18q11.2 18 23749448A> C null K Q 196 196 missense 0.0 benign 0.1 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,gnomAD rs140929432 18q11.2 18 23749455T> C null F S 198 198 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,gnomAD rs140929432 18q11.2 18 23749455T> A null F Y 198 198 2.0E-4 missense 0.936 probably damaging 0.13 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs78284895 cosmic curated [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:21720365,cosmic_study:331,cosmic_study:382 18q11.2 18 23749461G> A null R Q 200 200 0.001198 missense 0.003 benign 0.59 tolerated 1 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190350332 cosmic curated [Cosmic]: large_intestine cosmic_study:376 18q11.2 18 23749460C> T null R W 200 200 7.99E-4 missense 0.744 possibly damaging 0.01 deleterious 1 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201452856 18q11.2 18 23749471T> A null N K 203 203 2.0E-4 missense 0.103 benign 0.66 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1269530911 18q11.2 18 23749473T> C null M T 204 204 missense 0.005 benign 0.44 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs753341783 18q11.2 18 23749476C> A null A D 205 205 missense 0.773 possibly damaging 0.59 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs765903746 18q11.2 18 23749475G> C null A P 205 205 missense 0.01 benign 0.7 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs755468783 18q11.2 18 23749479T> G null V G 206 206 missense 0.756 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs758763131 18q11.2 18 23749485G> A null R Q 208 208 missense 0.011 benign 0.24 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs779411388 18q11.2 18 23749484C> T null R W 208 208 missense 0.802 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs577706490 18q11.2 18 23749493G> A null D N 211 211 2.0E-4 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1435016066 18q11.2 18 23749499C> T null L F 213 213 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1333384877 18q11.2 18 23749500T> C null L P 213 213 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1298525598 18q11.2 18 23749503G> A null C Y 214 214 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1314349920 18q11.2 18 23749505G> A null V I 215 215 missense 0.017 benign 0.05 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1358164898 18q11.2 18 23749511G> A null E K 217 217 missense 0.472 possibly damaging 0.05 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs747240253 18q11.2 18 23749516T> A null Y * 218 218 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs771108016 18q11.2 18 23749520C> T null R C 220 220 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs150204820 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22072542,cosmic_study:406 18q11.2 18 23749521G> A null R H 220 220 5.99E-4 missense 0.995 probably damaging 0.02 deleterious 1 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs771108016 18q11.2 18 23749520C> A null R S 220 220 missense 0.975 probably damaging 0.05 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs745967000 18q11.2 18 23749527T> C null V A 222 222 missense 0.634 possibly damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs373525680 18q11.2 18 23749529C> T null P S 223 223 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1172995085 18q11.2 18 23749542G> T null G V 227 227 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1348308671 18q11.2 18 23749544G> C null E Q 228 228 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs375599802 18q11.2 18 23750922T> C null V A 230 230 missense 0.873 possibly damaging 0.06 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,gnomAD rs571872512 18q11.2 18 23750924G> A null V M 231 231 2.0E-4 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1470185621 18q11.2 18 23750934T> C null I T 234 234 missense 0.655 possibly damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs759297463 18q11.2 18 23750939G> A null G S 236 236 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs764711214 18q11.2 18 23750942C> T null R C 237 237 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs527373647 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23750943G> A null R H 237 237 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1555684236 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23750956A> C null K N 241 241 missense 0.231 benign 0.31 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1049945716 18q11.2 18 23750970C> T null S F 246 246 missense 0.575 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,NCI-TCGA,gnomAD rs370456236 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23750969T> C null S P 246 246 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1329094147 18q11.2 18 23750979T> G null L R 249 249 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs200781855 18q11.2 18 23750984G> T null E * 251 251 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs200781855 18q11.2 18 23750984G> A null E K 251 251 missense 0.916 probably damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs750608321 18q11.2 18 23750987T> C null F L 252 252 missense 0.394 benign 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs926014669 18q11.2 18 23750994A> T null K M 254 254 missense 0.41 benign 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs780262635 18q11.2 18 23751002A> G null N D 257 257 missense 0.966 probably damaging 0.04 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1293963897 18q11.2 18 23751003A> G null N S 257 257 missense 0.625 possibly damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1332408250 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23751005A> G null I V 258 258 missense 0.566 possibly damaging 0.33 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs374003430 18q11.2 18 23751008C> T null R C 259 259 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1272817366 18q11.2 18 23751012T> A null L * 260 260 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1197299715 18q11.2 18 23751011T> G null L V 260 260 missense 0.842 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs368448744 cosmic curated [Cosmic]: kidney cosmic_study:588 18q11.2 18 23751014C> T null R C 261 261 missense 0.038 benign 0.02 deleterious 1 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs777581271 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23751015G> A null R H 261 261 missense 0.015 benign 0.13 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs368448744 18q11.2 18 23751014C> A null R S 261 261 missense 0.081 benign 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1281317491 18q11.2 18 23751021T> G null L R 263 263 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs770625695 18q11.2 18 23751023A> G null R G 264 264 missense 0.94 probably damaging 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1186662776 18q11.2 18 23751026A> G null T A 265 265 missense 0.935 probably damaging 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs533571545 18q11.2 18 23751027C> T null T I 265 265 2.0E-4 missense 0.995 probably damaging 0.2 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs533571545 18q11.2 18 23751027C> G null T S 265 265 2.0E-4 missense 0.695 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs745495641 18q11.2 18 23751030A> G null N S 266 266 missense 0.497 possibly damaging 0.08 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs769476000 18q11.2 18 23751033C> T null T M 267 267 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs774941533 18q11.2 18 23751035C> T null L F 268 268 missense 0.482 possibly damaging 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs762473260 18q11.2 18 23751036T> C null L P 268 268 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs762473260 18q11.2 18 23751036T> G null L R 268 268 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs769149688 18q11.2 18 23751038C> T null L F 269 269 missense 0.294 benign 0.04 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs897166205 18q11.2 18 23751039T> A null L H 269 269 missense 0.99 probably damaging 0.05 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1270132212 18q11.2 18 23751050A> G null I V 273 273 missense 0.248 benign 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1469186912 18q11.2 18 23751053T> G null S A 274 274 missense 0.949 probably damaging 0.18 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs62093354 18q11.2 18 23751064G> C null Q H 277 277 missense 0.923 probably damaging 0.28 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs767763498 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 18q11.2 18 23751065C> T null R * 278 278 missense 1 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,NCI-TCGA,gnomAD rs750852201 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23751066G> A null R Q 278 278 missense 0.978 probably damaging 0.25 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1415727909 18q11.2 18 23751070T> A null D E 279 279 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1026937587 18q11.2 18 23751071C> G null P A 280 280 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs760952949 18q11.2 18 23751074A> G null T A 281 281 missense 0.937 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs766743720 18q11.2 18 23751075C> T null T I 281 281 missense 0.993 probably damaging 0.14 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs760952949 18q11.2 18 23751074A> C null T P 281 281 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs201351139 18q11.2 18 23751081C> T null T I 283 283 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs991127113 18q11.2 18 23751084G> A null R Q 284 284 missense 0.726 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs755110132 18q11.2 18 23751083C> T null R W 284 284 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs779113390 18q11.2 18 23751086C> T null R W 285 285 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs755908558 18q11.2 18 23753737A> G null K R 291 291 missense 0.571 possibly damaging 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs779891910 18q11.2 18 23753745A> G null S G 294 294 missense 0.524 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs748927008 18q11.2 18 23753747C> A null S R 294 294 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,gnomAD rs541234075 18q11.2 18 23753748A> G null I V 295 295 2.0E-4 missense 0.01 benign 0.37 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1004725565 18q11.2 18 23753759G> C null Q H 298 298 missense 0.271 benign 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs747728113 18q11.2 18 23753757C> A null Q K 298 298 missense 0.01 benign 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs772413926 18q11.2 18 23753763G> A null V I 300 300 missense 0.696 possibly damaging 0.28 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1279704864 18q11.2 18 23753770A> G null N S 302 302 missense 0.528 possibly damaging 0.07 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1394462868 18q11.2 18 23753773G> C null G A 303 303 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,dbSNP,gnomAD rs771405735 [ClinVar]: Junctional epidermolysis bullosa gravis of Herlitz 18q11.2 18 23753781G> T null E * 306 306 stop gained 0 Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. MIM:226700 pubmed:20301304,ClinVar:RCV000670006 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs771405735 18q11.2 18 23753781G> C null E Q 306 306 missense 0.038 benign 0.25 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1352649853 18q11.2 18 23758401G> A null R Q 318 318 missense 0.005 benign 0.63 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs778653740 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23758400C> T null R W 318 318 missense 0.802 possibly damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs747557876 18q11.2 18 23758410G> A null C Y 321 321 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs745516805 18q11.2 18 23758412C> T null Q * 322 322 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs745516805 18q11.2 18 23758412C> G null Q E 322 322 missense 0.553 possibly damaging 0.35 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1251646098 18q11.2 18 23758426T> G null C W 326 326 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373289004 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 18q11.2 18 23758434C> T null T M 329 329 missense 0.863 possibly damaging 0.07 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 NCI-TCGA,TOPMed rs763917715 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23758442C> T null R C 332 332 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs771603867 18q11.2 18 23758443G> A null R H 332 332 missense 0.027 benign 0.16 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC rs777093802 18q11.2 18 23758451A> G null T A 335 335 missense 0.0 benign 0.11 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1418021031 18q11.2 18 23758452C> G null T R 335 335 missense 0.01 benign 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1249240353 18q11.2 18 23758458A> G null Y C 337 337 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1568152658 18q11.2 18 23758457T> C null Y H 337 337 missense 0.091 benign 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs552096413 18q11.2 18 23758460A> G null N D 338 338 missense 0.783 possibly damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs552223605 18q11.2 18 23758469C> T null R C 341 341 missense 0.802 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs775794986 18q11.2 18 23758470G> A null R H 341 341 missense 0.006 benign 0.07 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs775794986 18q11.2 18 23758470G> T null R L 341 341 missense 0.262 benign 0.06 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs552223605 18q11.2 18 23758469C> A null R S 341 341 missense 0.009 benign 0.08 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs764153557 18q11.2 18 23758476G> A null R Q 343 343 missense 0.012 benign 0.64 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs375811268 18q11.2 18 23758475C> T null R W 343 343 missense 0.026 benign 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed rs760581921 cosmic curated [Cosmic]: prostate pubmed:22610119,cosmic_study:392 18q11.2 18 23758481G> A null A T 345 345 missense 0.929 probably damaging 0.03 deleterious 1 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs182962365 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23758484G> A null A T 346 346 0.001398 missense 0.012 benign 1.0 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs986649160 18q11.2 18 23758495G> C null Q H 349 349 missense 0.007 benign 0.14 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs377143870 18q11.2 18 23758501C> A null H Q 351 351 missense 0.348 benign 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1391156248 18q11.2 18 23758500A> G null H R 351 351 missense 0.114 benign 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,dbSNP,gnomAD rs1344062987 [ClinVar]: Junctional epidermolysis bullosa gravis of Herlitz 18q11.2 18 23758502G> T null E * 352 352 stop gained 0 Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. MIM:226700 pubmed:20301304,ClinVar:RCV000668861 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs561783916 18q11.2 18 23758504G> C null E D 352 352 2.0E-4 missense 0.596 possibly damaging 0.08 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1344062987 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23917401,cosmic_study:329,cosmic_study:552 18q11.2 18 23758502G> A null E K 352 352 missense 0.454 possibly damaging 0.13 tolerated 1 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1344062987 18q11.2 18 23758502G> C null E Q 352 352 missense 0.863 possibly damaging 0.14 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs779553158 18q11.2 18 23758506G> A null C Y 353 353 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1230863210 18q11.2 18 23758511G> C null A P 355 355 missense 0.003 benign 1.0 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs749634152 18q11.2 18 23763405C> T null A V 355 355 missense 0.012 benign 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs903920127 18q11.2 18 23763412C> G null N K 357 357 missense 0.896 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1568158777 18q11.2 18 23763414G> A null C Y 358 358 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs748304720 18q11.2 18 23763420G> A null G D 360 360 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs748164301 18q11.2 18 23763419G> A null G S 360 360 missense 0.785 possibly damaging 0.09 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1453693863 18q11.2 18 23763426C> T null A V 362 362 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs772139801 18q11.2 18 23763436T> A null C * 365 365 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs773209748 18q11.2 18 23763439C> G null Y * 366 366 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1182322054 18q11.2 18 23763441A> G null Y C 367 367 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs759499605 18q11.2 18 23763446C> T null P S 369 369 missense 0.257 benign 0.04 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs775316919 18q11.2 18 23763451T> A null D E 370 370 missense 0.041 benign 1.0 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs769645021 18q11.2 18 23763450A> T null D V 370 370 missense 0.659 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1319654682 18q11.2 18 23763449G> T null D Y 370 370 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,gnomAD rs201889113 18q11.2 18 23763452G> T null V F 371 371 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs191816194 18q11.2 18 23763458C> G null R G 373 373 2.0E-4 missense 0.463 possibly damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs367796914 18q11.2 18 23763459G> T null R L 373 373 missense 0.308 benign 0.1 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367796914 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23763459G> A null R Q 373 373 missense 0.009 benign 0.43 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs191816194 18q11.2 18 23763458C> T null R W 373 373 2.0E-4 missense 0.829 possibly damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs749949281 18q11.2 18 23763467G> A null A T 376 376 missense 0.118 benign 0.27 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs146749247 18q11.2 18 23763468C> T null A V 376 376 3.99E-4 missense 0.457 possibly damaging 0.17 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,dbSNP,gnomAD rs370710933 18q11.2 18 23763471G> A null S N 377 377 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs969682670 18q11.2 18 23763480C> T null T I 380 380 missense 0.007 benign 1.0 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs964881956 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23763485G> A null G S 382 382 missense 0.971 probably damaging 0.04 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs879152030 18q11.2 18 23763492A> C null Y S 384 384 missense 0.945 probably damaging 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,dbSNP,gnomAD rs772044341 18q11.2 18 23763495C> A null A D 385 385 missense 0.019 benign 0.25 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs747092011 18q11.2 18 23763497G> C null G R 386 386 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs775303273 18q11.2 18 23763504G> A null G E 388 388 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1326003367 18q11.2 18 23763506G> T null V F 389 389 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs749296272 18q11.2 18 23763509T> C null C R 390 390 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs768566206 18q11.2 18 23763510G> A null C Y 390 390 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs774327823 18q11.2 18 23763512A> T null I F 391 391 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs761534098 18q11.2 18 23763513T> C null I T 391 391 missense 0.531 possibly damaging 0.05 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs374729988 18q11.2 18 23763516A> G null N S 392 392 missense 0.158 benign 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs983482870 18q11.2 18 23763518T> G null C G 393 393 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1210092949 18q11.2 18 23763522A> C null Q P 394 394 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs995766282 18q11.2 18 23773498A> G null H R 395 395 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs866999277 18q11.2 18 23773497C> T null H Y 395 395 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs555464457 18q11.2 18 23773501A> G null N S 396 396 3.99E-4 missense 0.73 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs76572574 18q11.2 18 23773510G> C null G A 399 399 0.003994 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1465273954 18q11.2 18 23773520_23773521de l null C * 402 402 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1210405876 18q11.2 18 23773524C> G null Q E 404 404 missense 0.079 benign 0.18 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1250907460 18q11.2 18 23773525A> C null Q P 404 404 missense 0.359 benign 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1454045821 18q11.2 18 23773530G> A null A T 406 406 missense 0.801 possibly damaging 0.35 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs747985583 18q11.2 18 23773537G> T null G V 408 408 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs772750522 18q11.2 18 23773540A> G null Y C 409 409 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1158013488 18q11.2 18 23773539T> C null Y H 409 409 missense 0.992 probably damaging 0.03 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs776172584 18q11.2 18 23773545C> T null R C 411 411 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs537687160 18q11.2 18 23773546G> A null R H 411 411 2.0E-4 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1301582381 18q11.2 18 23773551T> C null Y H 413 413 missense 0.034 benign 0.53 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1486864208 18q11.2 18 23773554G> T null G W 414 414 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs765767808 18q11.2 18 23773557G> C null V L 415 415 missense 0.544 possibly damaging 0.23 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs752995428 18q11.2 18 23773561C> T null P L 416 416 missense 0.997 probably damaging 0.13 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs867101259 18q11.2 18 23773563G> C null V L 417 417 missense 0.022 benign 1.0 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs557523147 18q11.2 18 23773570C> A null A D 419 419 2.0E-4 missense 0.983 probably damaging 0.69 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1208227954 18q11.2 18 23773572C> A null P T 420 420 missense 0.811 possibly damaging 0.34 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1230142156 18q11.2 18 23773576A> T null D V 421 421 missense 0.34 benign 0.11 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200781326 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23773587C> T null P S 425 425 missense 0.357 benign 0.05 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1005685820 18q11.2 18 23775798G> T null S I 427 427 missense 0.828 possibly damaging 0.06 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1414950722 18q11.2 18 23775802T> A null C * 428 428 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1386223485 18q11.2 18 23775800T> C null C R 428 428 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs180795245 [ClinVar]: Junctional epidermolysis bullosa gravis of Herlitz 18q11.2 18 23775801G> C null C S 428 428 0.001997 missense 1.0 probably damaging 0.0 deleterious 0 Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. MIM:226700 pubmed:20301304,ClinVar:RCV000723347 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,gnomAD rs547598653 18q11.2 18 23775804A> C null D A 429 429 2.0E-4 missense 0.438 benign 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs202000752 18q11.2 18 23775810A> C null E A 431 431 missense 0.164 benign 0.3 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1424874531 18q11.2 18 23775814T> G null H Q 432 432 missense 0.015 benign 0.2 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201907270 18q11.2 18 23775813A> G null H R 432 432 2.0E-4 missense 0.003 benign 0.3 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs777385606 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung pubmed:22980975,cosmic_study:431 18q11.2 18 23775816C> T null A V 433 433 missense 0.328 benign 0.07 tolerated 1 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1189485256 18q11.2 18 23775820T> A null D E 434 434 missense 0.034 benign 0.28 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs570084918 18q11.2 18 23775822G> T null G V 435 435 missense 0.914 probably damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs780838796 18q11.2 18 23775825G> A null C Y 436 436 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs745579328 18q11.2 18 23775830C> G null Q E 438 438 missense 0.012 benign 1.0 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs769291935 18q11.2 18 23775831A> G null Q R 438 438 missense 0.026 benign 0.15 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1215591158 18q11.2 18 23775840G> A null G D 441 441 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs536413197 18q11.2 18 23775842C> T null R C 442 442 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs776362739 18q11.2 18 23775843G> A null R H 442 442 missense 0.14 benign 0.08 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,TOPMed,gnomAD rs536413197 18q11.2 18 23775842C> A null R S 442 442 2.0E-4 missense 0.962 probably damaging 0.11 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs372737867 18q11.2 18 23775858C> T null P L 447 447 missense 0.015 benign 0.06 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1369644475 18q11.2 18 23775860A> G null N D 448 448 missense 0.913 probably damaging 0.04 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs774537936 18q11.2 18 23775863T> A null F I 449 449 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs767787325 18q11.2 18 23775869G> A null G R 451 451 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1359495002 18q11.2 18 23775876A> G null N S 453 453 missense 0.338 benign 0.26 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs773553166 18q11.2 18 23775885A> C null K T 456 456 missense 0.015 benign 0.15 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs761041396 18q11.2 18 23775890G> A null A T 458 458 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs199968275 18q11.2 18 23775893A> G null I V 459 459 missense 0.001 benign 0.55 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1022044696 18q11.2 18 23775897G> A null G E 460 460 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1260179869 18q11.2 18 23775900A> C null Y S 461 461 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC rs753977535 18q11.2 18 23775903A> G null Y C 462 462 missense 0.935 probably damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs774908153 18q11.2 18 23775905A> C null N H 463 463 missense 0.022 benign 0.11 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs374367265 18q11.2 18 23777557G> A null R K 469 469 missense 0.243 benign 0.24 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs761799953 18q11.2 18 23777559A> C null I L 470 470 missense 0.061 benign 0.23 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl,NCI-TCGA rs267605129 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23777563C> T null P L 471 471 missense 0.01 benign 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1278331219 cosmic curated [Cosmic]: breast pubmed:22722201,cosmic_study:385 18q11.2 18 23777578C> G null S C 476 476 missense 0.007 benign 0.13 tolerated 1 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1486711721 18q11.2 18 23777577T> C null S P 476 476 missense 0.001 benign 0.08 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs751512673 18q11.2 18 23777580A> G null T A 477 477 missense 0.007 benign 0.17 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1200067283 18q11.2 18 23777581C> T null T I 477 477 missense 0.007 benign 0.07 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1390583945 18q11.2 18 23777584C> T null P L 478 478 missense 0.003 benign 0.08 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs367550069 18q11.2 18 23777587G> A null S N 479 479 missense 0.003 benign 0.46 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1293195157 18q11.2 18 23777588T> G null S R 479 479 missense 0.003 benign 0.24 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs372260239 18q11.2 18 23777590C> T null S L 480 480 missense 0.068 benign 0.13 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,gnomAD rs552518935 18q11.2 18 23777594A> C null E D 481 481 2.0E-4 missense 0.001 benign 0.2 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1304920332 18q11.2 18 23777592G> A null E K 481 481 missense 0.001 benign 0.12 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs779759869 18q11.2 18 23777596A> G null D G 482 482 missense 0.003 benign 0.43 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs779759869 18q11.2 18 23777596A> T null D V 482 482 missense 0.273 benign 0.4 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs748687892 18q11.2 18 23777598C> G null P A 483 483 missense 0.007 benign 0.46 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ESP,ExAC,TOPMed,gnomAD rs373956896 18q11.2 18 23777605C> G null A G 485 485 missense 0.17 benign 0.04 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368425632 18q11.2 18 23777611A> G null D G 487 487 2.0E-4 missense 0.001 benign 0.16 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs748629605 18q11.2 18 23777614T> C null I T 488 488 missense 0.005 benign 0.04 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs747580864 18q11.2 18 23784026G> A null C Y 491 491 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs771325518 18q11.2 18 23784031T> C null C R 493 493 missense 0.479 possibly damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1237916054 18q11.2 18 23784044G> A null G D 497 497 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1237916054 18q11.2 18 23784044G> T null G V 497 497 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs781450114 18q11.2 18 23784047T> C null V A 498 498 missense 0.572 possibly damaging 0.09 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs534293265 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23784053C> T null P L 500 500 2.0E-4 missense 0.723 possibly damaging 0.41 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs974349786 18q11.2 18 23784055G> A null E K 501 501 missense 0.671 possibly damaging 0.25 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs775508695 18q11.2 18 23784060A> G null I M 502 502 missense 0.187 benign 0.11 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs938182374 18q11.2 18 23784061T> C null C R 503 503 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1170630074 18q11.2 18 23784062G> A null C Y 503 503 missense 0.248 benign 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1243539220 18q11.2 18 23784071A> G null H R 506 506 missense 0.006 benign 0.45 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs771939516 18q11.2 18 23784073G> A null G R 507 507 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs373484476 18q11.2 18 23784077G> A null R Q 508 508 missense 0.271 benign 0.56 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369896333 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23784076C> T null R W 508 508 2.0E-4 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1433415261 18q11.2 18 23784080G> A null C Y 509 509 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1299280490 18q11.2 18 23784087C> A null C * 511 511 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1364093542 18q11.2 18 23784085T> C null C R 511 511 missense 0.531 possibly damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1228662697 18q11.2 18 23784086G> A null C Y 511 511 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs753622480 18q11.2 18 23784088C> T null R C 512 512 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,NCI-TCGA,gnomAD rs759176445 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: lung pubmed:22941188,cosmic_study:423 18q11.2 18 23784089G> A null R H 512 512 missense 0.208 benign 0.02 deleterious 1 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs759176445 18q11.2 18 23784089G> C null R P 512 512 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1437074022 18q11.2 18 23784095G> A null G E 514 514 missense 0.15 benign 0.13 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs1568180547 18q11.2 18 23784102G> C null E D 516 516 missense 0.011 benign 0.22 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1247170889 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 18q11.2 18 23784106C> T null P S 518 518 missense 0.193 benign 0.57 tolerated 1 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,dbSNP,gnomAD rs757972988 [ClinVar]: Junctional epidermolysis bullosa gravis of Herlitz 18q11.2 18 23784109C> T null R * 519 519 stop gained 0 Junctional epidermolysis bullosa gravis of Herlitz Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. MIM:226700 pubmed:20301304,ClinVar:RCV000668370 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs777496182 18q11.2 18 23784110G> A null R Q 519 519 missense 0.029 benign 0.5 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1038353808 18q11.2 18 23784112T> A null C S 520 520 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs757754605 18q11.2 18 23784116A> T null D V 521 521 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs201020879 18q11.2 18 23784118A> G null T A 522 522 missense 0.005 benign 0.66 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs201020879 18q11.2 18 23784118A> C null T P 522 522 missense 0.577 possibly damaging 0.19 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1456105120 18q11.2 18 23784123C> A null C * 523 523 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs756291813 18q11.2 18 23784122G> A null C Y 523 523 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,NCI-TCGA,gnomAD rs754718312 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q11.2 18 23784124C> T null R C 524 524 missense 0.92 probably damaging 0.05 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201845068 18q11.2 18 23784125G> A null R H 524 524 2.0E-4 missense 0.852 possibly damaging 0.08 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs768717636 18q11.2 18 23784131G> T null G V 526 526 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs774451517 18q11.2 18 23784138C> G null Y * 528 528 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1053695458 18q11.2 18 23784139T> G null S A 529 529 missense 0.605 possibly damaging 0.09 tolerated 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1274891272 18q11.2 18 23784157G> A null G R 535 535 missense 0.617 possibly damaging 0.0 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,TOPMed,gnomAD rs546384136 18q11.2 18 23796026C> T null P L 536 536 2.0E-4 missense 0.011 benign 0.11 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1044218621 18q11.2 18 23796025C> A null P T 536 536 missense 0.015 benign 0.27 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs895930419 18q11.2 18 23796035A> G null K R 539 539 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1482130989 18q11.2 18 23796041C> T null A V 541 541 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,TOPMed,gnomAD rs751053654 18q11.2 18 23796058A> G null S G 547 547 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1473840394 18q11.2 18 23796063G> C null R S 548 548 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed rs1242829749 18q11.2 18 23796070G> T null A S 551 551 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs757744981 18q11.2 18 23796077C> T null T I 553 553 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs757744981 18q11.2 18 23796077C> A null T N 553 553 missense 0.01 benign 0.0 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs757744981 18q11.2 18 23796077C> G null T S 553 553 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1041733320 18q11.2 18 23796079G> A null E K 554 554 missense 0.005 benign 0.44 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1366950104 18q11.2 18 23796082C> T null P S 555 555 missense 0.0 benign 0.49 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1163516196 18q11.2 18 23796086C> T null A V 556 556 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,gnomAD rs566467902 18q11.2 18 23796095G> A null W * 559 559 2.0E-4 stop gained 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1306844747 18q11.2 18 23796096G> C null W C 559 559 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 1000Genomes,ExAC,gnomAD rs566467902 18q11.2 18 23796095G> T null W L 559 559 2.0E-4 missense 0.0 benign 0.36 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1351106482 18q11.2 18 23796099C> G null I M 560 560 missense 0.024 benign 0.02 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs904487912 18q11.2 18 23796102G> T null L F 561 561 missense 0.86 possibly damaging 0.16 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1393057380 18q11.2 18 23796100T> G null L V 561 561 missense 0.636 possibly damaging 0.03 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1310413733 18q11.2 18 23796110C> T null P L 564 564 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs556599848 18q11.2 18 23796109C> T null P S 564 564 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1314117012 18q11.2 18 23796125G> C null G A 569 569 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1339655536 18q11.2 18 23796127G> A null E K 570 570 missense 0.0 benign 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1245192804 18q11.2 18 23796130A> G null I V 571 571 missense 0.003 benign 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1322179429 18q11.2 18 23796133A> C null N H 572 572 missense 0.0 benign 0 A0A075B783 LAMA3 Laminin subunit alpha-3 TOPMed,gnomAD rs1294243158 18q11.2 18 23796137T> A null F Y 573 573 missense 0.01 benign 0 A0A075B783 LAMA3 Laminin subunit alpha-3 ExAC,gnomAD rs756456554 18q11.2 18 23796140A> G null Y C 574 574 missense 0.0 benign 0 A0A075B783 LAMA3 Laminin subunit alpha-3 gnomAD rs1340272637 18q11.2 18 23796139T> A null Y N 574 574 missense 0.005 benign 0 A0A075B783 LAMA3 Laminin subunit alpha-3 Ensembl rs745718238 18q11.2 18 23796142T> C null C R 575 575 missense 0.831 possibly damaging 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs765696480 17q25.3 17 78836360G> T null P T 2 2 missense 1.0 probably damaging 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1178063664 17q25.3 17 78836353A> C null V G 4 4 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs372871604 17q25.3 17 78836351C> G null D H 5 5 missense 0.98 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1019829963 17q25.3 17 78836347T> G null K T 6 6 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs761156888 17q25.3 17 78836341T> G null K T 8 8 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs773813684 17q25.3 17 78836336C> G null A P 10 10 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs770618059 17q25.3 17 78836324C> T null G S 14 14 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs549596089 17q25.3 17 78836321G> A null R C 15 15 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs866088865 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78836320C> T null R H 15 15 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs866088865 17q25.3 17 78836320C> A null R L 15 15 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs772869882 17q25.3 17 78836318T> G null K Q 16 16 missense 0.853 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs769475840 17q25.3 17 78836315C> T null D N 17 17 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1309964496 17q25.3 17 78836311G> A null S L 18 18 missense 0.035 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1400057357 17q25.3 17 78836306C> G null D H 20 20 missense 0.973 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs768324333 17q25.3 17 78836300C> G null G R 22 22 missense 0.889 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1295959874 17q25.3 17 78836293A> G null L P 24 24 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs746835177 17q25.3 17 78836286C> G null K N 26 26 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1235050317 17q25.3 17 78836284A> G null L P 27 27 missense 0.927 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1273676443 17q25.3 17 78836278G> A null A V 29 29 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1402575905 17q25.3 17 78836275G> A null S F 30 30 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs780073439 17q25.3 17 78836272G> A null S F 31 31 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1048738512 17q25.3 17 78836269G> T null A D 32 32 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs887460633 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78836270C> T null A T 32 32 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1048738512 17q25.3 17 78836269G> A null A V 32 32 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs757370811 17q25.3 17 78836249T> G null K Q 39 39 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs139599952 17q25.3 17 78836243C> T null E K 41 41 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1482591033 17q25.3 17 78836236T> C null E G 43 43 missense 0.436 benign 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs753131945 17q25.3 17 78836237C> T null E K 43 43 missense 0.294 benign 0.05 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1567975159 17q25.3 17 78836234G> A null P S 44 44 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs766079613 17q25.3 17 78836231C> T null A T 45 45 missense 0.981 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs773037826 17q25.3 17 78836215G> C null S C 50 50 missense 0.844 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs769422414 17q25.3 17 78836204C> T null E K 54 54 missense 0.204 benign 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs769422414 17q25.3 17 78836204C> G null E Q 54 54 missense 0.184 benign 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1324787796 17q25.3 17 78836195T> G null K Q 57 57 missense 0.951 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs761447025 17q25.3 17 78836191C> T null S N 58 58 missense 0.263 benign 0.16 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs544488000 17q25.3 17 78836189T> C null K E 59 59 missense 0.93 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1335984228 17q25.3 17 78836188T> C null K R 59 59 missense 0.449 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs369343127 17q25.3 17 78836185T> C null Y C 60 60 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs771906903 17q25.3 17 78836182A> G null V A 61 61 missense 0.94 probably damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs779925543 17q25.3 17 78836183C> A null V L 61 61 missense 0.793 possibly damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs779925543 17q25.3 17 78836183C> T null V M 61 61 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1157349029 17q25.3 17 78836176A> G null L P 63 63 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1052354794 17q25.3 17 78836173T> A null N I 64 64 missense 0.898 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1052354794 17q25.3 17 78836173T> C null N S 64 64 missense 0.046 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,gnomAD rs753953143 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78836170G> A null P L 65 65 missense 0.861 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1475231482 17q25.3 17 78836171G> A null P S 65 65 missense 0.273 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1190122029 17q25.3 17 78836168T> C null K E 66 66 missense 0.067 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1422429790 17q25.3 17 78836167T> C null K R 66 66 missense 0.013 benign 0.82 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs935964390 17q25.3 17 78836165T> C null T A 67 67 missense 0.009 benign 0.3 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs550067651 17q25.3 17 78836150G> A null R C 72 72 2.0E-4 missense 0.015 benign 0.27 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs199832721 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78836149C> T null R H 72 72 5.99E-4 missense 0.037 benign 0.38 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs925168027 17q25.3 17 78836145G> T null H Q 73 73 missense 0.012 benign 0.38 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs753192647 17q25.3 17 78836146T> C null H R 73 73 missense 0.001 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs767961453 17q25.3 17 78836143T> A null K M 74 74 missense 0.893 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,TOPMed rs375908018 17q25.3 17 78836138C> A null G * 76 76 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs750088774 17q25.3 17 78836137C> T null G E 76 76 missense 0.109 benign 0.16 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,TOPMed rs375908018 17q25.3 17 78836138C> T null G R 76 76 missense 0.009 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1344896032 17q25.3 17 78836134T> C null D G 77 77 missense 0.013 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed rs771592302 17q25.3 17 78836130G> C null D E 78 78 missense 0.001 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,gnomAD rs561220117 17q25.3 17 78836129G> T null P T 79 79 2.0E-4 missense 0.015 benign 0.21 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372703565 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:24325359,cosmic_study:562 17q25.3 17 78836125G> A null P L 80 80 missense 0.018 benign 0.14 tolerated 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs776236548 17q25.3 17 78836126G> A null P S 80 80 missense 0.029 benign 0.44 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1374523215 17q25.3 17 78836123C> T null A T 81 81 missense 0.108 benign 0.41 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs775449344 17q25.3 17 78836111C> A null G C 85 85 missense 0.465 possibly damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs992529580 17q25.3 17 78835495T> G null E A 87 87 missense 0.469 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1247917150 17q25.3 17 78835492T> C null H R 88 88 missense 0.009 benign 0.34 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs769902666 17q25.3 17 78835489G> A null T M 89 89 missense 0.03 benign 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs773371986 17q25.3 17 78835490T> G null T P 89 89 missense 0.331 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs755573541 17q25.3 17 78835486T> C null Y C 90 90 missense 0.717 possibly damaging 0.16 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs755573541 17q25.3 17 78835486T> A null Y F 90 90 missense 0.005 benign 0.65 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs755573541 17q25.3 17 78835486T> G null Y S 90 90 missense 0.003 benign 0.47 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,TOPMed,gnomAD rs369599195 17q25.3 17 78835483T> C null E G 91 91 missense 0.003 benign 0.58 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs763229785 17q25.3 17 78835484C> T null E K 91 91 missense 0.012 benign 0.54 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192460975 17q25.3 17 78835480C> T null S N 92 92 2.0E-4 missense 0.042 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1461992730 17q25.3 17 78835478A> C null C G 93 93 missense 0.003 benign 0.48 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1219713479 17q25.3 17 78835474C> T null G D 94 94 missense 0.784 possibly damaging 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1276717923 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78835469C> T null G R 96 96 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs753528093 17q25.3 17 78835466C> T null V I 97 97 missense 0.163 benign 0.83 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs753528093 17q25.3 17 78835466C> G null V L 97 97 missense 0.596 possibly damaging 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs867883245 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 17q25.3 17 78835463G> A null P S 98 98 missense 0.942 probably damaging 0.0 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1299032156 17q25.3 17 78835460C> A null A S 99 99 missense 0.971 probably damaging 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1299032156 17q25.3 17 78835460C> T null A T 99 99 missense 0.971 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs763714583 17q25.3 17 78835456G> A null P L 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1323486679 17q25.3 17 78835457G> A null P S 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1427812221 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 17q25.3 17 78835445G> A null L F 104 104 missense 0.857 possibly damaging 0.0 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1173652019 17q25.3 17 78835440G> C null F L 105 105 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs992345103 17q25.3 17 78835438G> A null P L 106 106 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201961301 17q25.3 17 78835435G> A null T M 107 107 7.99E-4 missense 0.003 benign 0.34 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs766191532 17q25.3 17 78835431C> G null E D 108 108 missense 0.015 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs148226667 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78835429C> T null R Q 109 109 missense 0.031 benign 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,gnomAD rs200549451 17q25.3 17 78835416C> A null R S 113 113 2.0E-4 missense 0.012 benign 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1221764390 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q25.3 17 78835415A> G null W R 114 114 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1567973555 17q25.3 17 78835411T> A null E V 115 115 missense 0.69 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143004059 17q25.3 17 78835408C> T null R Q 116 116 0.003994 missense 0.411 benign 0.27 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs769913674 17q25.3 17 78835409G> A null R W 116 116 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,TOPMed,gnomAD rs371515308 17q25.3 17 78835406C> T null V I 117 117 missense 0.017 benign 0.27 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1215282223 17q25.3 17 78835402A> G null F S 118 118 missense 0.037 benign 0.05 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs776872958 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78835400G> A null R C 119 119 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149460713 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78835399C> T null R H 119 119 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs900328306 17q25.3 17 78835396A> G null V A 120 120 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138324901 17q25.3 17 78835397C> A null V L 120 120 2.0E-4 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138324901 17q25.3 17 78835397C> G null V L 120 120 2.0E-4 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138324901 17q25.3 17 78835397C> T null V M 120 120 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs145909229 17q25.3 17 78835391C> A null A S 122 122 missense 0.969 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs145909229 17q25.3 17 78835391C> T null A T 122 122 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs367608403 17q25.3 17 78835381T> G null H P 125 125 missense 0.963 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs372915088 17q25.3 17 78835378T> C null N S 126 126 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,NCI-TCGA,gnomAD rs140654133 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78835376G> A null L F 127 127 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1426398754 17q25.3 17 78835375A> C null L R 127 127 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1567973356 17q25.3 17 78835369T> G null N T 129 129 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1182242619 17q25.3 17 78835367T> C null T A 130 130 missense 0.668 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148192093 17q25.3 17 78835366G> C null T S 130 130 0.003594 missense 0.956 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1241266273 17q25.3 17 78835354T> C null N S 134 134 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs886156224 17q25.3 17 78835344G> C null I M 137 137 missense 0.8 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1460962388 17q25.3 17 78835339C> T null C Y 139 139 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140965115 17q25.3 17 78835312T> C null N S 148 148 0.001198 missense 0.474 possibly damaging 0.05 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs768856388 17q25.3 17 78835296C> A null K N 153 153 missense 0.193 benign 0.05 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1313616120 17q25.3 17 78835297T> C null K R 153 153 missense 0.017 benign 0.38 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1245308739 17q25.3 17 78835294T> G null E A 154 154 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1245308739 17q25.3 17 78835294T> C null E G 154 154 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1038598340 17q25.3 17 78835291T> A null H L 155 155 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1038598340 17q25.3 17 78835291T> C null H R 155 155 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs151065333 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78835286G> A null R C 157 157 9.98E-4 missense 0.921 probably damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374600237 17q25.3 17 78835285C> T null R H 157 157 2.0E-4 missense 0.921 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,TOPMed rs142785001 17q25.3 17 78835283T> A null S C 158 158 7.99E-4 missense 0.879 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148941450 17q25.3 17 78835282C> A null S I 158 158 7.99E-4 missense 0.096 benign 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs757967737 17q25.3 17 78829006G> T null C * 159 159 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs757967737 17q25.3 17 78829006G> C null C W 159 159 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs779409830 17q25.3 17 78829007C> T null C Y 159 159 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1025896131 17q25.3 17 78829000C> A null Q H 161 161 missense 0.092 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1400447242 cosmic curated [Cosmic]: lung pubmed:23033341,cosmic_study:456 17q25.3 17 78828995C> A null S I 163 163 missense 0.891 possibly damaging 0.0 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1362196054 17q25.3 17 78828993A> G null F L 164 164 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs779056597 17q25.3 17 78828987T> C null M V 166 166 missense 0.263 benign 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1378214324 17q25.3 17 78828977A> T null V D 169 169 missense 0.848 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1176900042 17q25.3 17 78828968T> C null N S 172 172 missense 0.3 benign 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1427541861 17q25.3 17 78828954C> A null A S 177 177 missense 0.624 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201774114 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 17q25.3 17 78828948C> T null A T 179 179 2.0E-4 missense 0.723 possibly damaging 0.02 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs199886203 17q25.3 17 78828939C> T null G S 182 182 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs753000711 17q25.3 17 78828935T> A null N I 183 183 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs753000711 17q25.3 17 78828935T> C null N S 183 183 missense 0.968 probably damaging 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139783752 17q25.3 17 78828933C> T null A T 184 184 7.99E-4 missense 0.766 possibly damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs766875006 17q25.3 17 78828921C> T null V I 188 188 missense 0.03 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs766875006 17q25.3 17 78828921C> G null V L 188 188 missense 0.095 benign 0.15 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC rs369064069 17q25.3 17 78828917G> A null S F 189 189 missense 0.639 possibly damaging 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs147398039 17q25.3 17 78828913G> T null F L 190 190 missense 0.413 benign 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1402824647 17q25.3 17 78828911A> G null I T 191 191 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1304506625 17q25.3 17 78828909G> A null R * 192 192 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs746611433 17q25.3 17 78828908C> T null R Q 192 192 missense 0.396 benign 0.16 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs775280247 17q25.3 17 78828900T> C null K E 195 195 missense 0.267 benign 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1401691974 17q25.3 17 78828899T> C null K R 195 195 missense 0.026 benign 0.24 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs866645554 17q25.3 17 78827342C> A null A S 198 198 missense 0.414 benign 0.05 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs866645554 17q25.3 17 78827342C> T null A T 198 198 missense 0.288 benign 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1358653011 17q25.3 17 78827339G> A null R * 199 199 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139495407 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78827338C> T null R Q 199 199 2.0E-4 missense 0.031 benign 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150547254 17q25.3 17 78827336G> C null H D 200 200 0.002596 missense 0.571 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150547254 17q25.3 17 78827336G> T null H N 200 200 0.002596 missense 0.121 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs933293989 17q25.3 17 78827332A> G null F S 201 201 missense 0.795 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs747977802 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78827330G> A null R C 202 202 missense 0.858 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs370089975 17q25.3 17 78827329C> T null R H 202 202 missense 0.117 benign 0.11 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1391072410 17q25.3 17 78827312C> T null D N 208 208 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs751829662 17q25.3 17 78827308G> A null A V 209 209 missense 0.758 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1159765397 17q25.3 17 78827298G> C null F L 212 212 missense 0.64 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1385230601 17q25.3 17 78827299A> T null F Y 212 212 missense 0.086 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs758541447 17q25.3 17 78827293C> T null R Q 214 214 missense 0.073 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs780077253 17q25.3 17 78827294G> A null R W 214 214 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1220068507 17q25.3 17 78827287G> C null T S 216 216 missense 0.041 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1225366718 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q25.3 17 78827282C> T null D N 218 218 missense 0.758 possibly damaging 0.03 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs759229493 17q25.3 17 78827279C> T null A T 219 219 missense 0.107 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1346392794 17q25.3 17 78827275A> G null M T 220 220 missense 0.653 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,gnomAD rs574948112 17q25.3 17 78827276T> C null M V 220 220 2.0E-4 missense 0.275 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1403546110 17q25.3 17 78827263C> T null C Y 224 224 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1365312402 17q25.3 17 78827257T> C null N S 226 226 missense 0.001 benign 0.42 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1035036535 17q25.3 17 78827255C> T null G S 227 227 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1383368794 17q25.3 17 78827248G> A null A V 229 229 missense 0.088 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs770549188 17q25.3 17 78827245T> C null K R 230 230 missense 0.015 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1468392829 17q25.3 17 78822001C> G null L F 231 231 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1194819074 17q25.3 17 78822000C> G null D H 232 232 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1302260052 17q25.3 17 78821997G> A null R C 233 233 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1302260052 17q25.3 17 78821997G> C null R G 233 233 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs904330900 17q25.3 17 78821996C> T null R H 233 233 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs748713371 17q25.3 17 78821994G> C null Q E 234 234 missense 0.542 possibly damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs781661637 17q25.3 17 78821990G> A null T M 235 235 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs750077139 17q25.3 17 78821987T> G null Q P 236 236 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1190476663 17q25.3 17 78821982T> C null T A 238 238 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs778444907 17q25.3 17 78821981G> A null T I 238 238 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1481646389 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78821978G> A null T I 239 239 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1200382041 17q25.3 17 78821979T> A null T S 239 239 missense 0.872 possibly damaging 0.05 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs970486568 17q25.3 17 78821969T> C null H R 242 242 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs146186604 17q25.3 17 78821970G> A null H Y 242 242 missense 0.755 possibly damaging 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC rs753323366 17q25.3 17 78821966T> C null Q R 243 243 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs879718908 17q25.3 17 78821952A> G null Y H 248 248 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs939725126 17q25.3 17 78821940G> A null R C 252 252 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs896088442 17q25.3 17 78821059T> C null K E 254 254 missense 0.977 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142216826 17q25.3 17 78821050C> T null V M 257 257 0.001398 missense 0.009 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1404267849 17q25.3 17 78821043T> C null K R 259 259 missense 0.22 benign 0.05 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1462854316 17q25.3 17 78821040C> T null S N 260 260 missense 0.591 possibly damaging 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs759332450 17q25.3 17 78821038C> T null V I 261 261 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368742664 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q25.3 17 78821034G> A null S L 262 262 missense 1.0 probably damaging 0.02 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1040144024 17q25.3 17 78821025T> C null Y C 265 265 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs765394816 17q25.3 17 78821026A> G null Y H 265 265 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA rs777212345 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 17q25.3 17 78821023C> T null D N 266 266 missense 0.998 probably damaging 0.0 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs747352765 17q25.3 17 78821016T> C null Y C 268 268 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1227316237 17q25.3 17 78821017A> G null Y H 268 268 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1446163420 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary cosmic_study:331 17q25.3 17 78821010T> C null D G 270 270 missense 0.997 probably damaging 0.0 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3744793 pubmed:15489334 17q25.3 17 78821008C> T null V I 271 271 0.3586 missense 0.02 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs777411928 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17q25.3 17 78821005C> T null A T 272 272 missense 0.509 possibly damaging 0.21 tolerated 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs755550563 17q25.3 17 78821004G> A null A V 272 272 missense 0.96 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,TOPMed,gnomAD rs150437022 17q25.3 17 78821001A> G null L P 273 273 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1045911594 17q25.3 17 78821002G> C null L V 273 273 missense 0.919 probably damaging 0.16 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs781132569 17q25.3 17 78820996T> G null I L 275 275 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1165992529 17q25.3 17 78820994G> C null I M 275 275 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs781132569 17q25.3 17 78820996T> C null I V 275 275 missense 0.872 possibly damaging 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs751555738 17q25.3 17 78820992C> G null R P 276 276 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs751555738 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78820992C> T null R Q 276 276 missense 0.636 possibly damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,gnomAD rs754847185 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78820993G> A null R W 276 276 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1411304242 17q25.3 17 78820006C> T null A T 279 279 missense 0.105 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs758201748 17q25.3 17 78820005G> A null A V 279 279 missense 0.574 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1385846213 17q25.3 17 78820002T> G null N T 280 280 missense 0.621 possibly damaging 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1292136509 17q25.3 17 78820000T> C null I V 281 281 missense 0.26 benign 0.26 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs758733575 17q25.3 17 78819997C> T null V M 282 282 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs765509578 17q25.3 17 78819994G> A null R C 283 283 missense 0.645 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,gnomAD rs757533435 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22722839,cosmic_study:391 17q25.3 17 78819993C> T null R H 283 283 missense 0.989 probably damaging 0.0 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1203209560 17q25.3 17 78819985C> A null E * 286 286 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs764080745 17q25.3 17 78819984T> A null E V 286 286 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1242685956 17q25.3 17 78819981A> T null L H 287 287 missense 0.959 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs760871640 17q25.3 17 78819978A> G null F S 288 288 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1260892871 17q25.3 17 78819972T> G null K T 290 290 missense 0.924 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs914860008 17q25.3 17 78819966T> C null D G 292 292 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs753074196 17q25.3 17 78819964C> T null V I 293 293 missense 0.196 benign 0.12 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs759842188 17q25.3 17 78819957C> T null S N 295 295 missense 0.958 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1324536674 17q25.3 17 78819955C> T null G R 296 296 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs774673908 17q25.3 17 78819951T> C null E G 297 297 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1038728841 17q25.3 17 78819949T> C null N D 298 298 missense 0.728 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1344724466 17q25.3 17 78819940T> G null M L 301 301 missense 0.017 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1204944869 17q25.3 17 78819939A> G null M T 301 301 missense 0.086 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1271323409 17q25.3 17 78819936C> T null C Y 302 302 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1383449916 17q25.3 17 78819930T> A null K I 304 304 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs775044652 17q25.3 17 78818776C> T null C Y 305 305 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1274608536 17q25.3 17 78818774T> C null K E 306 306 missense 0.767 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs200324750 17q25.3 17 78818773T> C null K R 306 306 missense 0.222 benign 0.05 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,gnomAD rs202103052 17q25.3 17 78818767T> C null K R 308 308 2.0E-4 missense 0.99 probably damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs749135681 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78818750G> A null R C 314 314 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs199873425 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 17q25.3 17 78818749C> T null R H 314 314 missense 0.993 probably damaging 0.0 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs752900278 17q25.3 17 78818747A> G null F L 315 315 missense 0.832 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs367589918 17q25.3 17 78818743G> T null T N 316 316 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs755107337 17q25.3 17 78818731G> A null T I 320 320 missense 0.66 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs140438817 17q25.3 17 78818725T> C null N S 322 322 missense 0.247 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs750823481 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78818723C> T null V I 323 323 missense 0.949 probably damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs765570767 17q25.3 17 78818708G> T null L I 328 328 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs775352553 17q25.3 17 78818702G> A null R C 330 330 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1307099915 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78818701C> T null R H 330 330 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1411484691 17q25.3 17 78818699A> G null F L 331 331 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1489755490 17q25.3 17 78818696C> T null A T 332 332 missense 0.882 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs759134548 17q25.3 17 78818688G> C null F L 334 334 missense 0.085 benign 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1219820388 17q25.3 17 78818686C> G null S T 335 335 missense 0.098 benign 0.18 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs771027463 17q25.3 17 78818684C> T null G R 336 336 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1349440501 17q25.3 17 78818677T> C null K R 338 338 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1175735479 17q25.3 17 78814550A> C null D E 342 342 missense 0.072 benign 0.14 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs746379313 17q25.3 17 78814551T> C null D G 342 342 missense 0.875 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1429642467 17q25.3 17 78814549C> T null V I 343 343 missense 0.872 possibly damaging 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs779289271 17q25.3 17 78814546C> T null G S 344 344 missense 0.966 probably damaging 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs568739495 cosmic curated [Cosmic]: kidney cosmic_study:416 17q25.3 17 78814539G> A null P L 346 346 2.0E-4 missense 0.946 probably damaging 0.0 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1243419621 17q25.3 17 78814537C> T null E K 347 347 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs754659416 17q25.3 17 78814522G> A null R C 352 352 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs761731693 17q25.3 17 78814521C> T null R H 352 352 missense 0.889 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1567939273 17q25.3 17 78814518G> T null P Q 353 353 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1344310573 17q25.3 17 78814515T> C null Y C 354 354 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs765912155 17q25.3 17 78814507G> C null Q E 357 357 missense 0.26 benign 0.13 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1226333610 17q25.3 17 78814506T> C null Q R 357 357 missense 0.14 benign 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs762375829 17q25.3 17 78814504T> C null N D 358 358 missense 0.037 benign 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs370357338 17q25.3 17 78814503T> C null N S 358 358 missense 0.001 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs765109682 17q25.3 17 78814493A> T null D E 361 361 missense 0.026 benign 0.88 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs761555336 17q25.3 17 78814489C> T null V I 363 363 missense 0.098 benign 0.27 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1205875095 17q25.3 17 78814484C> T null M I 364 364 missense 0.015 benign 0.19 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142162440 17q25.3 17 78814485A> G null M T 364 364 2.0E-4 missense 0.02 benign 0.27 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1256493488 17q25.3 17 78814482T> C null Y C 365 365 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1372998837 17q25.3 17 78814477G> A null L F 367 367 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1235120685 17q25.3 17 78814471C> T null A T 369 369 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs143942831 17q25.3 17 78814462C> T null V M 372 372 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1188955463 17q25.3 17 78814452C> T null G D 375 375 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs779422397 17q25.3 17 78814449T> G null Y S 376 376 missense 0.639 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1406716532 17q25.3 17 78814447T> A null S C 377 377 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1406716532 17q25.3 17 78814447T> C null S G 377 377 missense 0.978 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs771314937 17q25.3 17 78814440T> C null H R 379 379 missense 0.834 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs778272120 17q25.3 17 78814435C> T null G R 381 381 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1204385799 17q25.3 17 78814428T> C null Y C 383 383 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs756616273 17q25.3 17 78814423A> G null C R 385 385 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs779588166 17q25.3 17 78814417C> T null V M 387 387 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1338986672 17q25.3 17 78814413T> G null K T 388 388 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs745582308 17q25.3 17 78813866T> C null N S 391 391 missense 0.329 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1159194533 17q25.3 17 78813863C> T null G E 392 392 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs753706546 17q25.3 17 78813859C> A null Q H 393 393 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs756825733 17q25.3 17 78813860T> C null Q R 393 393 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1178382204 17q25.3 17 78813854T> C null Y C 395 395 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1490215506 17q25.3 17 78813852G> T null Q K 396 396 missense 0.71 possibly damaging 0.05 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1567938004 17q25.3 17 78813848A> C null M R 397 397 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1200343090 17q25.3 17 78813849T> C null M V 397 397 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1431685230 17q25.3 17 78813845T> C null N S 398 398 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1480628421 17q25.3 17 78813834C> A null V F 402 402 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1480628421 17q25.3 17 78813834C> T null V I 402 402 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs767399235 17q25.3 17 78813818A> G null V A 407 407 missense 0.356 benign 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs752462664 17q25.3 17 78813819C> T null V I 407 407 missense 0.007 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1209368146 17q25.3 17 78813816T> C null K E 408 408 missense 0.469 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs141540569 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78813812A> G null V A 409 409 missense 0.621 possibly damaging 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs555548664 17q25.3 17 78813813C> A null V L 409 409 2.0E-4 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs555548664 17q25.3 17 78813813C> T null V M 409 409 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1346107263 17q25.3 17 78813803T> G null N T 412 412 missense 0.687 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs901564397 17q25.3 17 78813800T> C null Q R 413 413 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1276931870 17q25.3 17 78813797T> A null Q L 414 414 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1330969860 17q25.3 17 78813791T> C null Y C 416 416 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs773808717 cosmic curated [Cosmic]: liver cosmic_study:322 17q25.3 17 78813789C> T null V M 417 417 missense 0.964 probably damaging 0.03 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,gnomAD rs776837620 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q25.3 17 78813774G> A null R * 422 422 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1442174787 17q25.3 17 78812993C> G null G A 425 425 missense 0.452 possibly damaging 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1275745391 17q25.3 17 78812991A> T null S T 426 426 missense 0.053 benign 0.32 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs751433991 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78812986C> A null K N 427 427 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs780035370 17q25.3 17 78812985T> C null K E 428 428 missense 0.557 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs758671736 17q25.3 17 78812984T> A null K I 428 428 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1228577001 17q25.3 17 78812976C> T null E K 431 431 missense 0.491 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1282046728 17q25.3 17 78812975T> A null E V 431 431 missense 0.802 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1321029001 17q25.3 17 78812972C> T null G D 432 432 missense 0.93 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1321029001 17q25.3 17 78812972C> A null G V 432 432 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1447061142 17q25.3 17 78812970G> T null L I 433 433 missense 0.088 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs765403001 17q25.3 17 78812969A> C null L R 433 433 missense 0.127 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1309566361 17q25.3 17 78812966A> G null I T 434 434 missense 0.036 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs761954425 17q25.3 17 78812963G> C null S C 435 435 missense 0.067 benign 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs182925919 17q25.3 17 78812960C> A null R M 436 436 5.99E-4 missense 0.084 benign 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1567936331 17q25.3 17 78812958T> C null T A 437 437 missense 0.005 benign 0.25 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs760903725 17q25.3 17 78812954C> G null G A 438 438 missense 0.598 possibly damaging 0.74 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1027371081 17q25.3 17 78812951G> C null S C 439 439 missense 0.693 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1249860743 17q25.3 17 78812949A> G null S P 440 440 missense 0.015 benign 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs762593172 17q25.3 17 78812946A> C null S A 441 441 missense 0.003 benign 0.6 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs772858458 17q25.3 17 78812945G> C null S C 441 441 missense 0.846 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs772858458 17q25.3 17 78812945G> A null S F 441 441 missense 0.571 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs762593172 17q25.3 17 78812946A> G null S P 441 441 missense 0.527 possibly damaging 0.16 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117840411 17q25.3 17 78812937C> A null G C 444 444 0.002396 missense 0.138 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs768607857 17q25.3 17 78812936C> T null G D 444 444 missense 0.237 benign 0.05 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117840411 17q25.3 17 78812937C> G null G R 444 444 0.002396 missense 0.67 possibly damaging 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs117840411 17q25.3 17 78812937C> T null G S 444 444 0.002396 missense 0.007 benign 0.75 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs200588002 17q25.3 17 78812934G> A null R C 445 445 3.99E-4 missense 0.105 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs200588002 17q25.3 17 78812934G> C null R G 445 445 3.99E-4 missense 0.82 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,TOPMed,gnomAD rs368954783 17q25.3 17 78812933C> T null R H 445 445 missense 0.046 benign 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,TOPMed,gnomAD rs368954783 17q25.3 17 78812933C> A null R L 445 445 missense 0.628 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs200588002 17q25.3 17 78812934G> T null R S 445 445 3.99E-4 missense 0.766 possibly damaging 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs750605688 17q25.3 17 78812930G> A null P L 446 446 missense 0.473 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs750605688 17q25.3 17 78812930G> C null P R 446 446 missense 0.607 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs753979623 17q25.3 17 78812927C> T null S N 447 447 missense 0.017 benign 0.35 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1289985434 17q25.3 17 78812928T> G null S R 447 447 missense 0.578 possibly damaging 0.12 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1349856435 17q25.3 17 78812925C> A null V L 448 448 missense 0.017 benign 0.35 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1349856435 17q25.3 17 78812925C> T null V M 448 448 missense 0.187 benign 0.19 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs764116222 17q25.3 17 78812921A> C null I S 449 449 missense 0.0 benign 0.43 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1250671088 17q25.3 17 78812918G> A null P L 450 450 missense 0.085 benign 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs143772552 17q25.3 17 78812919G> A null P S 450 450 missense 0.167 benign 0.51 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1162701065 17q25.3 17 78812916C> A null D Y 451 451 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs767807281 17q25.3 17 78812907T> C null K E 454 454 missense 0.476 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs759909816 17q25.3 17 78812906T> C null K R 454 454 missense 0.026 benign 0.25 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs772805476 17q25.3 17 78812903T> C null K R 455 455 missense 0.421 benign 0.3 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs769519436 17q25.3 17 78812898T> C null I V 457 457 missense 0.0 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs552345677 17q25.3 17 78812895C> T null G S 458 458 2.0E-4 missense 0.009 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1212448371 17q25.3 17 78812892T> C null N D 459 459 missense 0.81 possibly damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs746938766 17q25.3 17 78812891T> A null N I 459 459 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs746938766 17q25.3 17 78812891T> C null N S 459 459 missense 0.297 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed rs775573263 17q25.3 17 78812882A> G null I T 462 462 missense 0.0 benign 0.28 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs532677692 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 17q25.3 17 78812876G> A null S F 464 464 2.0E-4 missense 0.373 benign 0.0 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1301659080 17q25.3 17 78812868T> C null T A 467 467 missense 0.003 benign 0.71 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1169879689 17q25.3 17 78812867G> C null T S 467 467 missense 0.037 benign 0.39 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs914170832 17q25.3 17 78812865C> G null G R 468 468 missense 0.328 benign 0.05 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs935462694 17q25.3 17 78812862T> C null K E 469 469 missense 0.977 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1365323946 17q25.3 17 78812861T> C null K R 469 469 missense 0.834 possibly damaging 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs901031487 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q25.3 17 78807636G> A null R * 470 470 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139147825 17q25.3 17 78807635C> T null R Q 470 470 3.99E-4 missense 0.402 benign 0.18 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1256407967 17q25.3 17 78807633G> T null Q K 471 471 missense 0.288 benign 0.56 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs758693190 17q25.3 17 78807621T> C null T A 475 475 missense 0.001 benign 0.67 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146302851 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78807620G> A null T M 475 475 2.0E-4 missense 0.012 benign 0.39 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373077121 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78807614T> C null K R 477 477 missense 0.006 benign 0.49 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1223457575 17q25.3 17 78807612T> G null K Q 478 478 missense 0.539 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140328430 17q25.3 17 78807608G> A null P L 479 479 0.002196 missense 0.0 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs775104906 17q25.3 17 78807609G> A null P S 479 479 missense 0.094 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs762683755 17q25.3 17 78807605T> C null H R 480 480 missense 0.108 benign 0.27 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs770704168 17q25.3 17 78807606G> A null H Y 480 480 missense 0.422 benign 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs375802757 17q25.3 17 78807593T> C null E G 484 484 missense 0.147 benign 0.21 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs769973055 17q25.3 17 78807590A> G null I T 485 485 missense 0.0 benign 0.27 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs748419616 17q25.3 17 78807587C> G null G A 486 486 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147163143 17q25.3 17 78807581G> T null P H 488 488 5.99E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147163143 17q25.3 17 78807581G> A null P L 488 488 5.99E-4 missense 0.976 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1166516334 17q25.3 17 78807579T> G null I L 489 489 missense 0.029 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3744795 17q25.3 17 78807577T> C null I M 489 489 0.07029 missense 0.554 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1421642671 17q25.3 17 78807578A> G null I T 489 489 missense 0.156 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1166516334 17q25.3 17 78807579T> C null I V 489 489 missense 0.001 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs747481265 17q25.3 17 78807571C> A null R S 491 491 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1169231136 17q25.3 17 78807569T> C null N S 492 492 missense 0.02 benign 0.26 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs780437019 17q25.3 17 78807566C> T null G D 493 493 missense 0.691 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs750783345 17q25.3 17 78807563G> A null S F 494 494 missense 0.005 benign 0.13 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs758741298 17q25.3 17 78807564A> G null S P 494 494 missense 0.009 benign 0.25 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs758741298 17q25.3 17 78807564A> T null S T 494 494 missense 0.191 benign 0.19 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1332865428 17q25.3 17 78807549T> G null K Q 499 499 missense 0.448 possibly damaging 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1405459169 17q25.3 17 78807543G> A null Q * 501 501 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs970905305 17q25.3 17 78807542T> C null Q R 501 501 missense 0.544 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs200860990 17q25.3 17 78807537C> T null G S 503 503 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143571508 17q25.3 17 78807531T> C null I V 505 505 0.001398 missense 0.0 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs766262084 17q25.3 17 78807527G> A null P L 506 506 missense 0.003 benign 0.21 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1309504336 17q25.3 17 78807525G> C null P A 507 507 missense 0.013 benign 0.22 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs762990745 17q25.3 17 78807521T> C null K R 508 508 missense 0.052 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1159708121 17q25.3 17 78807515G> A null P L 510 510 missense 0.034 benign 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,gnomAD rs567947097 17q25.3 17 78807516G> A null P S 510 510 3.99E-4 missense 0.039 benign 0.12 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372564351 17q25.3 17 78807512G> A null S L 511 511 2.0E-4 missense 0.001 benign 0.73 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372564351 17q25.3 17 78807512G> C null S W 511 511 2.0E-4 missense 0.803 possibly damaging 0.13 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1452062203 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78807510C> A null G W 512 512 missense 0.195 benign 0.05 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs768662830 17q25.3 17 78807507A> C null S A 513 513 missense 0.018 benign 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,gnomAD rs747079506 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 17q25.3 17 78807506G> A null S F 513 513 missense 0.894 possibly damaging 0.09 tolerated 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs768662830 17q25.3 17 78807507A> T null S T 513 513 missense 0.055 benign 0.27 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs200160079 17q25.3 17 78807500G> A null S F 515 515 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs200160079 17q25.3 17 78807500G> T null S Y 515 515 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1272755857 17q25.3 17 78807497G> C null P R 516 516 missense 0.914 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1355498501 17q25.3 17 78807498G> A null P S 516 516 missense 0.236 benign 0.22 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs772426162 17q25.3 17 78807494T> C null K R 517 517 missense 0.009 benign 0.61 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs746432585 17q25.3 17 78807492G> A null L F 518 518 missense 0.748 possibly damaging 0.11 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes rs528190959 17q25.3 17 78807489A> C null S A 519 519 2.0E-4 missense 0.001 benign 0.32 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1332119116 17q25.3 17 78807488G> A null S F 519 519 missense 0.398 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs752343637 17q25.3 17 78807486G> A null Q * 520 520 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs750095438 17q25.3 17 78807482G> A null T I 521 521 missense 0.664 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs754474833 17q25.3 17 78807479G> T null P H 522 522 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs781016935 17q25.3 17 78807480G> T null P T 522 522 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs930473205 17q25.3 17 78807476G> A null T I 523 523 missense 0.024 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs930473205 17q25.3 17 78807476G> C null T R 523 523 missense 0.565 possibly damaging 0.05 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs765963626 17q25.3 17 78807471T> C null M V 525 525 missense 0.0 benign 0.66 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs758255576 17q25.3 17 78807468G> A null P S 526 526 missense 0.961 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs375335141 17q25.3 17 78807465T> C null T A 527 527 missense 0.003 benign 0.31 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1252407989 17q25.3 17 78807464G> A null T I 527 527 missense 0.024 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1252407989 17q25.3 17 78807464G> T null T N 527 527 missense 0.44 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs980289980 17q25.3 17 78807460G> C null I M 528 528 missense 0.293 benign 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs761608387 17q25.3 17 78807462T> C null I V 528 528 missense 0.006 benign 0.57 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs775407082 17q25.3 17 78807454G> T null D E 530 530 missense 0.033 benign 0.43 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs764253415 17q25.3 17 78807456C> T null D N 530 530 missense 0.624 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs746370618 17q25.3 17 78807451G> C null D E 531 531 missense 0.0 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200423499 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78807453C> T null D N 531 531 missense 0.301 benign 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs775000525 17q25.3 17 78807449G> A null P L 532 532 missense 0.079 benign 0.18 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs771376984 17q25.3 17 78807446C> T null G E 533 533 missense 0.085 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1436850025 17q25.3 17 78807443T> C null K R 534 534 missense 0.215 benign 0.12 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1324251845 17q25.3 17 78807441T> C null K E 535 535 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1317449309 17q25.3 17 78807435T> C null K E 537 537 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs749704387 17q25.3 17 78807434T> C null K R 537 537 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs778327038 17q25.3 17 78807430C> A null K N 538 538 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1314714727 17q25.3 17 78807431T> C null K R 538 538 missense 0.919 probably damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs754569051 17q25.3 17 78807426C> A null A S 540 540 missense 0.015 benign 0.66 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs754569051 17q25.3 17 78807426C> T null A T 540 540 missense 0.015 benign 0.29 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1394567827 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78807419G> A null P L 542 542 missense 0.003 benign 0.77 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs746734943 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78807420G> A null P S 542 542 missense 0.015 benign 0.42 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs779426655 17q25.3 17 78807417G> T null Q K 543 543 missense 0.386 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1451642029 17q25.3 17 78807414G> A null H Y 544 544 missense 0.229 benign 0.34 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1192983091 17q25.3 17 78807411A> C null F V 545 545 missense 0.023 benign 0.23 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs960912291 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22842228,cosmic_study:511 17q25.3 17 78807407G> A null S F 546 546 missense 0.66 possibly damaging 0.0 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs750304765 17q25.3 17 78807408A> G null S P 546 546 missense 0.006 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1209383618 17q25.3 17 78807405G> C null P A 547 547 missense 0.011 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1347722702 17q25.3 17 78807404G> A null P L 547 547 missense 0.01 benign 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1209383618 17q25.3 17 78807405G> A null P S 547 547 missense 0.053 benign 0.16 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs112790707 17q25.3 17 78807401C> T null R K 548 548 missense 0.001 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs112790707 17q25.3 17 78807401C> G null R T 548 548 missense 0.003 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs754346385 17q25.3 17 78807393G> C null Q E 551 551 missense 0.359 benign 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP rs142617524 17q25.3 17 78807389C> T null G E 552 552 missense 0.862 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs968635242 17q25.3 17 78807386A> C null L R 553 553 missense 0.087 benign 0.39 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs767426729 17q25.3 17 78807381C> T null G R 555 555 missense 0.696 possibly damaging 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs759714003 17q25.3 17 78807378T> C null T A 556 556 missense 0.006 benign 0.23 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1233336337 17q25.3 17 78807374C> T null S N 557 557 missense 0.711 possibly damaging 0.12 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs532327037 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78807368G> A null S L 559 559 2.0E-4 missense 0.0 benign 0.94 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,gnomAD rs367953812 17q25.3 17 78807362C> T null S N 561 561 2.0E-4 missense 0.211 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs543337655 17q25.3 17 78807350C> G null G A 565 565 2.0E-4 missense 0.083 benign 0.14 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs543337655 17q25.3 17 78807350C> T null G E 565 565 2.0E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs371093651 17q25.3 17 78807345G> C null Q E 567 567 missense 0.003 benign 0.29 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1485669490 17q25.3 17 78807343T> G null Q H 567 567 missense 0.0 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1224815222 17q25.3 17 78807340C> A null R S 568 568 missense 0.011 benign 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs779770423 17q25.3 17 78807332G> A null S F 571 571 missense 0.874 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs757795848 17q25.3 17 78807329C> T null W * 572 572 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1271616854 17q25.3 17 78807326T> C null D G 573 573 missense 0.013 benign 0.18 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1201243338 17q25.3 17 78807320C> G null R T 575 575 missense 0.288 benign 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1357939325 17q25.3 17 78807316A> T null D E 576 576 missense 0.011 benign 0.39 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1291274808 17q25.3 17 78807315C> T null V I 577 577 missense 0.0 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs377312015 17q25.3 17 78807311A> G null V A 578 578 missense 0.001 benign 0.99 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs757163190 17q25.3 17 78807309G> A null L F 579 579 missense 0.015 benign 0.18 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs753827258 17q25.3 17 78807305G> C null S C 580 580 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs777422484 17q25.3 17 78807303T> C null T A 581 581 missense 0.352 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs777422484 17q25.3 17 78807303T> G null T P 581 581 missense 0.058 benign 0.05 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1406179164 17q25.3 17 78807299G> A null S L 582 582 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,TOPMed,gnomAD rs375010260 17q25.3 17 78807297G> T null P T 583 583 missense 0.663 possibly damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1163285898 17q25.3 17 78807294T> C null K E 584 584 missense 0.453 possibly damaging 0.05 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs949473129 17q25.3 17 78807284G> A null A V 587 587 missense 0.048 benign 0.11 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs370137888 17q25.3 17 78807282T> C null T A 588 588 missense 0.0 benign 0.66 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC rs767814555 17q25.3 17 78807281G> A null T I 588 588 missense 0.034 benign 0.11 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs370137888 17q25.3 17 78807282T> G null T P 588 588 missense 0.0 benign 0.18 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1179485349 17q25.3 17 78807279C> G null A P 589 589 missense 0.039 benign 0.32 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs759880106 17q25.3 17 78807276T> C null T A 590 590 missense 0.011 benign 0.2 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1469578793 17q25.3 17 78807272G> C null A G 591 591 missense 0.21 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs751671826 17q25.3 17 78807273C> G null A P 591 591 missense 0.01 benign 0.13 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs751671826 17q25.3 17 78807273C> T null A T 591 591 missense 0.011 benign 0.28 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139155069 17q25.3 17 78807267C> T null G R 593 593 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs541169522 17q25.3 17 78807263T> C null H R 594 594 3.99E-4 missense 0.563 possibly damaging 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs771680038 17q25.3 17 78807254T> C null K R 597 597 missense 0.173 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1327172494 17q25.3 17 78807251C> G null G A 598 598 missense 0.001 benign 0.34 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1443390894 17q25.3 17 78807249T> C null N D 599 599 missense 0.053 benign 0.57 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1397010005 17q25.3 17 78807248T> C null N S 599 599 missense 0.033 benign 0.77 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143161068 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78807246C> T null D N 600 600 missense 0.301 benign 0.14 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs558732144 17q25.3 17 78807243C> T null E K 601 601 2.0E-4 missense 0.003 benign 0.23 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs777775978 17q25.3 17 78807240T> C null S G 602 602 missense 0.001 benign 0.58 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs755813219 17q25.3 17 78807239C> T null S N 602 602 missense 0.003 benign 0.31 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200626859 17q25.3 17 78807237C> T null A T 603 603 2.0E-4 missense 0.001 benign 0.66 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1260170482 17q25.3 17 78807236G> A null A V 603 603 missense 0.003 benign 0.37 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs755243023 17q25.3 17 78807231G> A null L F 605 605 missense 0.66 possibly damaging 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs576677638 cosmic curated [Cosmic]: central_nervous_system pubmed:23441165,cosmic_study:474 17q25.3 17 78807228C> T null D N 606 606 0.001797 missense 0.165 benign 0.18 tolerated 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs576677638 17q25.3 17 78807228C> A null D Y 606 606 0.001797 missense 0.694 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs750848663 17q25.3 17 78807221C> T null R K 608 608 missense 0.001 benign 0.98 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs866304291 17q25.3 17 78807222T> A null R W 608 608 missense 0.003 benign 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs777030818 17q25.3 17 78807218C> T null G D 609 609 missense 0.0 benign 0.97 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs762265490 17q25.3 17 78807219C> T null G S 609 609 missense 0.058 benign 0.36 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs777030818 17q25.3 17 78807218C> A null G V 609 609 missense 0.086 benign 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1366193110 17q25.3 17 78807206G> C null S C 613 613 missense 0.085 benign 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs759180087 17q25.3 17 78807207A> G null S P 613 613 missense 0.054 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs773993759 17q25.3 17 78807204T> C null S G 614 614 missense 0.879 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1345163941 17q25.3 17 78807201G> A null P S 615 615 missense 0.943 probably damaging 0.2 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1177469741 17q25.3 17 78807198C> A null E * 616 616 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs748850563 17q25.3 17 78807196C> G null E D 616 616 missense 0.021 benign 0.22 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1410830416 17q25.3 17 78807195G> A null H Y 617 617 missense 0.003 benign 0.2 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs543707885 17q25.3 17 78807191G> A null S L 618 618 missense 0.677 possibly damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1284546023 17q25.3 17 78807189C> A null A S 619 619 missense 0.003 benign 0.42 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1284546023 17q25.3 17 78807189C> T null A T 619 619 missense 0.003 benign 0.16 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1022923099 17q25.3 17 78807188G> A null A V 619 619 missense 0.003 benign 0.12 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,gnomAD rs144381842 17q25.3 17 78807186T> C null S G 620 620 missense 0.003 benign 0.18 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201302268 17q25.3 17 78807184G> C null S R 620 620 2.0E-4 missense 0.031 benign 0.11 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs780446860 17q25.3 17 78807180C> T null D N 622 622 missense 0.322 benign 0.26 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1308349382 17q25.3 17 78807176G> C null S C 623 623 missense 0.634 possibly damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1233637563 17q25.3 17 78807177A> G null S P 623 623 missense 0.001 benign 0.53 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1214839571 17q25.3 17 78807173G> C null T S 624 624 missense 0.0 benign 0.32 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs750482825 17q25.3 17 78807171T> C null K E 625 625 missense 0.006 benign 0.15 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1361730457 17q25.3 17 78807170T> C null K R 625 625 missense 0.003 benign 0.3 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs548197375 17q25.3 17 78807167G> T null A D 626 626 2.0E-4 missense 0.079 benign 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs765281175 17q25.3 17 78807168C> T null A T 626 626 missense 0.003 benign 0.32 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs548197375 17q25.3 17 78807167G> A null A V 626 626 2.0E-4 missense 0.003 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs372873518 17q25.3 17 78807164G> A null P L 627 627 missense 0.09 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139422837 17q25.3 17 78807165G> A null P S 627 627 2.0E-4 missense 0.856 possibly damaging 0.14 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139422837 17q25.3 17 78807165G> T null P T 627 627 2.0E-4 missense 0.349 benign 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs772769833 17q25.3 17 78807161T> A null Q L 628 628 missense 0.288 benign 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs772769833 17q25.3 17 78807161T> G null Q P 628 628 missense 0.006 benign 0.34 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1376630155 17q25.3 17 78807159T> C null T A 629 629 missense 0.01 benign 0.4 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186001931 17q25.3 17 78807158G> A null T I 629 629 2.0E-4 missense 0.44 benign 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186001931 17q25.3 17 78807158G> T null T N 629 629 2.0E-4 missense 0.603 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs143223744 17q25.3 17 78807155G> A null P L 630 630 missense 0.073 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs150865699 17q25.3 17 78807156G> A null P S 630 630 missense 0.003 benign 0.24 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112843316 17q25.3 17 78807153T> C null R G 631 631 3.99E-4 missense 0.163 benign 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs758623047 17q25.3 17 78807151C> G null R S 631 631 missense 0.121 benign 0.14 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs746133689 17q25.3 17 78807150T> C null S G 632 632 missense 0.003 benign 0.35 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs757285017 17q25.3 17 78807144C> T null A T 634 634 missense 0.536 possibly damaging 0.2 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs764090613 17q25.3 17 78807143G> A null A V 634 634 missense 0.071 benign 0.21 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs763015564 17q25.3 17 78807141C> T null A T 635 635 missense 0.015 benign 0.44 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs376513018 17q25.3 17 78807140G> A null A V 635 635 missense 0.242 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs775098038 17q25.3 17 78807137T> A null H L 636 636 missense 0.023 benign 0.31 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs775098038 17q25.3 17 78807137T> C null H R 636 636 missense 0.0 benign 0.58 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs762666876 17q25.3 17 78807138G> A null H Y 636 636 missense 0.086 benign 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs941372823 17q25.3 17 78807131C> A null C F 638 638 missense 0.242 benign 0.05 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs746990181 17q25.3 17 78807128T> C null D G 639 639 missense 0.121 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs768686464 17q25.3 17 78807129C> T null D N 639 639 missense 0.011 benign 0.13 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs775411653 17q25.3 17 78807125G> A null S F 640 640 missense 0.964 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1182845052 17q25.3 17 78807123G> A null Q * 641 641 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1182845052 17q25.3 17 78807123G> C null Q E 641 641 missense 0.134 benign 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs368958421 17q25.3 17 78807116G> A null T M 643 643 missense 0.707 possibly damaging 0.05 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs749397640 17q25.3 17 78807113T> C null N S 644 644 missense 0.019 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs749397640 17q25.3 17 78807113T> G null N T 644 644 missense 0.011 benign 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1444346245 17q25.3 17 78807111A> G null C R 645 645 missense 0.188 benign 0.05 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,gnomAD rs550097094 17q25.3 17 78807110C> T null C Y 645 645 2.0E-4 missense 0.003 benign 0.39 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1188122300 17q25.3 17 78807107G> C null S C 646 646 missense 0.003 benign 0.11 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1164647569 17q25.3 17 78807104G> A null T I 647 647 missense 0.293 benign 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs781557175 17q25.3 17 78807101G> C null A G 648 648 missense 0.003 benign 0.43 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs376772768 17q25.3 17 78807102C> T null A T 648 648 missense 0.011 benign 0.25 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs781557175 17q25.3 17 78807101G> A null A V 648 648 missense 0.173 benign 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1293002173 17q25.3 17 78807098C> T null G D 649 649 missense 0.656 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1380151341 17q25.3 17 78807095T> C null H R 650 650 missense 0.0 benign 0.59 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,gnomAD rs529939411 17q25.3 17 78807096G> A null H Y 650 650 2.0E-4 missense 0.187 benign 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs753373680 17q25.3 17 78807089T> G null K T 652 652 missense 0.382 benign 0.11 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143765903 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78807086G> A null T M 653 653 2.0E-4 missense 0.003 benign 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143765903 17q25.3 17 78807086G> C null T R 653 653 2.0E-4 missense 0.057 benign 0.4 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,gnomAD rs200774801 17q25.3 17 78807083G> A null P L 654 654 2.0E-4 missense 0.003 benign 0.47 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs771024669 17q25.3 17 78807081G> C null P A 655 655 missense 0.225 benign 0.21 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs771024669 17q25.3 17 78807081G> A null P S 655 655 missense 0.022 benign 0.14 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1285188624 17q25.3 17 78807074C> T null G E 657 657 missense 0.755 possibly damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1210701503 17q25.3 17 78807072C> T null A T 658 658 missense 0.005 benign 0.2 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs572232460 17q25.3 17 78807071G> A null A V 658 658 2.0E-4 missense 0.001 benign 0.14 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149099006 17q25.3 17 78807063T> C null K E 661 661 2.0E-4 missense 0.006 benign 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1334150786 17q25.3 17 78807061C> G null K N 661 661 missense 0.288 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149099006 17q25.3 17 78807063T> G null K Q 661 661 2.0E-4 missense 0.053 benign 0.11 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs748601527 17q25.3 17 78807059G> A null T M 662 662 missense 0.003 benign 0.78 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs145100246 17q25.3 17 78807053T> C null K R 664 664 missense 0.058 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1362554776 17q25.3 17 78807050A> G null L P 665 665 missense 0.013 benign 0.22 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC rs780519181 17q25.3 17 78807047T> C null K R 666 666 missense 0.058 benign 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs753610612 cosmic curated [Cosmic]: endometrium pubmed:22923510,cosmic_study:434 17q25.3 17 78807041G> A null P L 668 668 missense 0.913 probably damaging 0.04 deleterious 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1419364100 17q25.3 17 78807042G> A null P S 668 668 missense 0.357 benign 0.18 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs763626403 17q25.3 17 78807039C> G null V L 669 669 missense 0.11 benign 0.36 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1303517019 17q25.3 17 78807036G> T null L M 670 670 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1043080166 17q25.3 17 78807035A> C null L R 670 670 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs947073273 17q25.3 17 78807033T> C null S G 671 671 missense 0.003 benign 0.55 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs747063989 17q25.3 17 78807032C> T null S N 671 671 missense 0.006 benign 0.33 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs752631032 17q25.3 17 78807031G> T null S R 671 671 missense 0.406 benign 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1238907301 17q25.3 17 78807029T> C null N S 672 672 missense 0.007 benign 0.73 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1404074757 17q25.3 17 78807026G> A null T I 673 673 missense 0.003 benign 0.41 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1366638079 17q25.3 17 78807024T> C null T A 674 674 missense 0.0 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1389461739 17q25.3 17 78807023G> A null T I 674 674 missense 0.107 benign 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1371126490 17q25.3 17 78807021T> C null T A 675 675 missense 0.0 benign 0.47 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed rs767385597 17q25.3 17 78807020G> A null T I 675 675 missense 0.001 benign 0.27 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs759557030 17q25.3 17 78807015G> A null P S 677 677 missense 0.536 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149420360 17q25.3 17 78807005G> C null T S 680 680 5.99E-4 missense 0.121 benign 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs763096581 17q25.3 17 78807002A> G null M T 681 681 missense 0.022 benign 0.23 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs770828514 17q25.3 17 78807003T> C null M V 681 681 missense 0.225 benign 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1402211650 17q25.3 17 78806999G> A null S F 682 682 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,TOPMed rs369603546 17q25.3 17 78806978A> G null L P 689 689 missense 0.119 benign 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,TOPMed rs369603546 17q25.3 17 78806978A> T null L Q 689 689 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1473839012 17q25.3 17 78806975G> A null A V 690 690 missense 0.967 probably damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1358486988 17q25.3 17 78806285G> T null A D 696 696 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs866344626 17q25.3 17 78806282C> T null S N 697 697 missense 0.536 possibly damaging 0.08 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1329550231 17q25.3 17 78806283T> G null S R 697 697 missense 0.803 possibly damaging 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1411932936 17q25.3 17 78806280T> C null T A 698 698 missense 0.066 benign 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs370981846 17q25.3 17 78806279G> T null T N 698 698 missense 0.503 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs755805162 17q25.3 17 78806277G> C null L V 699 699 missense 0.879 possibly damaging 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs747891305 17q25.3 17 78806268C> T null A T 702 702 missense 0.822 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34121152 17q25.3 17 78806262C> A null G C 704 704 0.008786 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34121152 17q25.3 17 78806262C> T null G S 704 704 0.008786 missense 0.029 benign 0.32 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201317729 17q25.3 17 78806261C> A null G V 704 704 2.0E-4 missense 0.56 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs750200488 17q25.3 17 78806256C> T null D N 706 706 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs776914038 17q25.3 17 78806253G> A null L F 707 707 missense 0.684 possibly damaging 0.13 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1336699199 17q25.3 17 78806252A> G null L P 707 707 missense 0.858 possibly damaging 0.07 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs776914038 17q25.3 17 78806253G> C null L V 707 707 missense 0.146 benign 0.1 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs764019486 17q25.3 17 78806250G> A null R C 708 708 missense 0.804 possibly damaging 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144554402 17q25.3 17 78806249C> T null R H 708 708 3.99E-4 missense 0.007 benign 0.32 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs776100532 17q25.3 17 78806247G> A null P S 709 709 missense 0.015 benign 0.78 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1156277749 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78806243G> A null P L 710 710 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1280276345 17q25.3 17 78806244G> T null P T 710 710 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs772675333 17q25.3 17 78806241G> A null P S 711 711 missense 0.067 benign 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs772675333 17q25.3 17 78806241G> T null P T 711 711 missense 0.536 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143307341 17q25.3 17 78806238G> C null P A 712 712 2.0E-4 missense 0.019 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199750041 17q25.3 17 78806237G> T null P H 712 712 3.99E-4 missense 0.006 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199750041 17q25.3 17 78806237G> A null P L 712 712 3.99E-4 missense 0.003 benign 0.19 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199750041 17q25.3 17 78806237G> C null P R 712 712 3.99E-4 missense 0.293 benign 0.85 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143307341 17q25.3 17 78806238G> A null P S 712 712 2.0E-4 missense 0.21 benign 0.14 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs143307341 17q25.3 17 78806238G> T null P T 712 712 2.0E-4 missense 0.288 benign 0.17 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1405353303 17q25.3 17 78806234G> A null S L 713 713 missense 0.463 possibly damaging 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs779592769 17q25.3 17 78806228G> C null S C 715 715 missense 0.719 possibly damaging 0.18 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs779592769 17q25.3 17 78806228G> A null S F 715 715 missense 0.001 benign 0.72 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs894673710 17q25.3 17 78806225G> C null S C 716 716 missense 0.023 benign 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs750429683 17q25.3 17 78806223C> T null D N 717 717 missense 0.864 possibly damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs778609868 17q25.3 17 78806220G> C null L V 718 718 missense 0.542 possibly damaging 0.14 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs771828330 17q25.3 17 78806216G> A null T I 719 719 missense 0.984 probably damaging 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC rs757086258 17q25.3 17 78806213T> G null H P 720 720 missense 0.003 benign 0.09 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs764404049 17q25.3 17 78806210G> C null P R 721 721 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs150924360 17q25.3 17 78806198G> C null S C 725 725 missense 0.54 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1317502212 17q25.3 17 78806199A> G null S P 725 725 missense 0.131 benign 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs775014668 17q25.3 17 78806194G> C null H Q 726 726 missense 0.858 possibly damaging 0.05 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,gnomAD rs760114925 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78806196G> A null H Y 726 726 missense 0.021 benign 0.04 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1218091553 17q25.3 17 78806189A> G null V A 728 728 missense 0.006 benign 0.51 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs763408313 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78806190C> T null V I 728 728 missense 0.039 benign 0.24 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs746725250 17q25.3 17 78806186A> T null V D 729 729 missense 0.215 benign 0.18 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs556016934 17q25.3 17 78806187C> T null V I 729 729 3.99E-4 missense 0.088 benign 0.22 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs779537628 17q25.3 17 78806184C> G null A P 730 730 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs771571903 17q25.3 17 78806171G> C null P R 734 734 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1399401860 17q25.3 17 78806172G> A null P S 734 734 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs370008283 17q25.3 17 78806169C> T null V I 735 735 missense 0.477 possibly damaging 0.05 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs370485135 17q25.3 17 78806165T> C null H R 736 736 missense 0.0 benign 0.31 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1230335210 17q25.3 17 78806162C> T null R K 737 737 missense 0.0 benign 1.0 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1054403886 17q25.3 17 78806161T> A null R S 737 737 missense 0.033 benign 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1486090168 17q25.3 17 78806160C> A null A S 738 738 missense 0.003 benign 0.54 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs777476912 17q25.3 17 78806159G> A null A V 738 738 missense 0.031 benign 0.52 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs756344934 17q25.3 17 78806157T> C null R G 739 739 missense 0.536 possibly damaging 0.02 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs751667887 17q25.3 17 78803974C> T null V M 741 741 missense 0.506 possibly damaging 0.01 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs766431336 17q25.3 17 78803967G> A null P L 743 743 missense 0.787 possibly damaging 0.0 deleterious 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1193718968 17q25.3 17 78803968G> A null P S 743 743 missense 0.691 possibly damaging 0.06 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1355897500 17q25.3 17 78803964G> A null A V 744 744 missense 0.306 benign 0.03 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1458067106 17q25.3 17 78803962G> A null P S 745 745 missense 0.306 benign 0.15 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs750901899 17q25.3 17 78803952G> C null S C 748 748 missense 0.911 probably damaging 0.03 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs370614897 17q25.3 17 78803947G> A null R C 750 750 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs559790137 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803946C> T null R H 750 750 2.0E-4 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs559790137 17q25.3 17 78803946C> A null R L 750 750 2.0E-4 missense 0.0 benign 0.7 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1312796098 17q25.3 17 78803938G> T null P T 753 753 missense 0.083 benign 0.17 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1280860443 17q25.3 17 78803932A> G null F L 755 755 missense 0.0 benign 0.71 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1196944691 17q25.3 17 78803928C> T null S N 756 756 missense 0.003 benign 0.26 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1217581968 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803929T> G null S R 756 756 missense 0.215 benign 0.11 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1196944691 17q25.3 17 78803928C> G null S T 756 756 missense 0.114 benign 0.58 tolerated 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs773899585 17q25.3 17 78803926G> C null P A 757 757 missense 0.225 benign 0.06 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs770413198 17q25.3 17 78803925G> T null P H 757 757 missense 0.891 possibly damaging 0.08 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1339224206 17q25.3 17 78803923G> T null H N 758 758 missense 0.098 benign 0.21 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed rs769674374 17q25.3 17 78803922T> G null H P 758 758 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs781183155 17q25.3 17 78803921G> C null H Q 758 758 missense 0.108 benign 0.22 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1339224206 17q25.3 17 78803923G> A null H Y 758 758 missense 0.0 benign 0.76 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs908958911 17q25.3 17 78803916G> A null T I 760 760 missense 0.007 benign 0.34 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs866245431 17q25.3 17 78803917T> G null T P 760 760 missense 0.001 benign 0.37 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1374823167 17q25.3 17 78803914A> T null L M 761 761 missense 0.438 benign 0.19 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1318207737 17q25.3 17 78803904C> T null S N 764 764 missense 0.711 possibly damaging 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs755241349 17q25.3 17 78803902T> C null T A 765 765 missense 0.014 benign 0.27 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1567916490 17q25.3 17 78803901G> A null T I 765 765 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs747265597 17q25.3 17 78803898G> A null P L 766 766 missense 0.009 benign 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs747265597 17q25.3 17 78803898G> C null P R 766 766 missense 0.682 possibly damaging 0.06 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs758423834 17q25.3 17 78803896T> C null K E 767 767 missense 0.033 benign 0.14 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs765761723 17q25.3 17 78803894C> A null K N 767 767 missense 0.053 benign 0.08 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs758423834 17q25.3 17 78803896T> G null K Q 767 767 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs750890843 17q25.3 17 78803895T> C null K R 767 767 missense 0.0 benign 0.81 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC rs756208436 17q25.3 17 78803901_78803902insCGCAAGCAGACTACGTTTCCAGACCATACCTACTTGGGG G null P * 768 768 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs757796841 17q25.3 17 78803892G> A null P L 768 768 missense 0.021 benign 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1459867727 17q25.3 17 78803893G> A null P S 768 768 missense 0.306 benign 0.03 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1457430542 17q25.3 17 78803889G> T null P Q 769 769 missense 0.406 benign 0.36 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1457430542 17q25.3 17 78803889G> C null P R 769 769 missense 0.226 benign 0.84 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs754175746 17q25.3 17 78803890G> T null P T 769 769 missense 0.173 benign 0.27 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs751174118 17q25.3 17 78803883G> A null T M 771 771 missense 0.003 benign 0.37 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs772820975 17q25.3 17 78803880G> A null S L 772 772 missense 0.121 benign 0.08 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs762402424 17q25.3 17 78803881A> T null S T 772 772 missense 0.011 benign 0.4 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1306371210 17q25.3 17 78803875G> A null P S 774 774 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs9889908 17q25.3 17 78803871C> A null R L 775 775 0.001198 missense 0.015 benign 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs9889908 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 17q25.3 17 78803871C> T null R Q 775 775 0.001198 missense 0.0 benign 1.0 tolerated - low confidence 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs201074072 17q25.3 17 78803872G> A null R W 775 775 missense 0.292 benign 0.05 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs768580370 17q25.3 17 78803866A> C null C G 777 777 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs747199387 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: lung pubmed:22941188,cosmic_study:423 17q25.3 17 78803853G> A null S L 781 781 missense 0.182 benign 0.24 tolerated - low confidence 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs376198256 17q25.3 17 78803850G> A null T M 782 782 missense 0.023 benign 0.06 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs779010244 17q25.3 17 78803847G> A null A V 783 783 missense 0.127 benign 0.05 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs757747598 17q25.3 17 78803837C> G null Q H 786 786 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs144862820 17q25.3 17 78803832T> C null N S 788 788 missense 0.103 benign 0.07 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs143211507 17q25.3 17 78803829T> C null E G 789 789 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs756447523 17q25.3 17 78803830C> T null E K 789 789 missense 0.046 benign 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs765918116 17q25.3 17 78803827C> A null D Y 790 790 missense 0.42 benign 0.06 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1483845614 17q25.3 17 78803818A> G null S P 793 793 missense 0.836 possibly damaging 0.06 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC rs764910425 17q25.3 17 78803815G> A null L F 794 794 missense 0.243 benign 0.03 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs761779528 17q25.3 17 78803814A> G null L P 794 794 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1441981836 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803800G> A null P S 799 799 missense 0.173 benign 0.1 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs147302564 17q25.3 17 78803797C> T null E K 800 800 missense 0.306 benign 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1230553444 17q25.3 17 78803793G> T null A D 801 801 missense 0.9 possibly damaging 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs768525189 17q25.3 17 78803790C> A null S I 802 802 missense 0.023 benign 0.1 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs768525189 17q25.3 17 78803790C> T null S N 802 802 missense 0.015 benign 0.07 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs760415964 17q25.3 17 78803788C> T null E K 803 803 missense 0.003 benign 0.37 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC rs772158740 17q25.3 17 78803785G> C null P A 804 804 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs550911300 17q25.3 17 78803784G> T null P H 804 804 missense 0.719 possibly damaging 0.09 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs550911300 17q25.3 17 78803784G> A null P L 804 804 missense 0.051 benign 0.07 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs550911300 17q25.3 17 78803784G> C null P R 804 804 missense 0.272 benign 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC rs772158740 17q25.3 17 78803785G> A null P S 804 804 missense 0.007 benign 0.35 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs749736539 17q25.3 17 78803782G> C null P A 805 805 missense 0.225 benign 0.2 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs756686721 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q25.3 17 78803781G> A null P L 805 805 missense 0.013 benign 0.23 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs756686721 17q25.3 17 78803781G> C null P R 805 805 missense 0.748 possibly damaging 0.01 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs749736539 17q25.3 17 78803782G> A null P S 805 805 missense 0.022 benign 0.24 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs537129179 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q25.3 17 78803779G> A null Q * 806 806 2.0E-4 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs537129179 17q25.3 17 78803779G> C null Q E 806 806 2.0E-4 missense 0.014 benign 0.11 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs537129179 17q25.3 17 78803779G> T null Q K 806 806 2.0E-4 missense 0.007 benign 0.22 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3088040 17q25.3 17 78803778T> G null Q P 806 806 0.4297 missense 0.0 benign 0.23 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3088040 pubmed:10819331,pubmed:14702039,pubmed:15489334 17q25.3 17 78803778T> C null Q R 806 806 0.4297 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1377487019 17q25.3 17 78803775C> A null S I 807 807 missense 0.9 possibly damaging 0.08 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs995580686 17q25.3 17 78803774G> C null S R 807 807 missense 0.925 probably damaging 0.01 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs753790028 17q25.3 17 78803773G> A null P S 808 808 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs763904977 17q25.3 17 78803770A> C null S A 809 809 missense 0.173 benign 0.69 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1310720993 17q25.3 17 78803763T> C null K R 811 811 missense 0.833 possibly damaging 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs775130762 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803755T> C null K E 814 814 missense 0.242 benign 0.02 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3744797 17q25.3 17 78803753C> A null K N 814 814 0.02536 missense 0.027 benign 0.07 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs759610534 17q25.3 17 78803748A> G null F S 816 816 missense 0.013 benign 0.43 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1421167498 17q25.3 17 78803746C> T null V M 817 817 missense 0.007 benign 0.15 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1016299421 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803736G> A null P L 820 820 missense 0.0 benign 0.37 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1016299421 17q25.3 17 78803736G> T null P Q 820 820 missense 0.07 benign 0.58 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1229315083 17q25.3 17 78803729C> G null R S 822 822 missense 0.001 benign 0.7 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,gnomAD rs373221256 17q25.3 17 78803727A> G null L P 823 823 missense 0.003 benign 0.23 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1183955475 17q25.3 17 78803725C> A null G C 824 824 missense 0.939 probably damaging 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1376146520 17q25.3 17 78803724C> T null G D 824 824 missense 0.656 possibly damaging 0.11 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1376146520 17q25.3 17 78803724C> A null G V 824 824 missense 0.096 benign 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs755386999 17q25.3 17 78803721G> A null S L 825 825 missense 0.006 benign 0.45 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs781347871 17q25.3 17 78803722A> G null S P 825 825 missense 0.006 benign 0.32 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs546293023 17q25.3 17 78803715G> A null T M 827 827 2.0E-4 missense 0.05 benign 0.23 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1057040 pubmed:10819331,pubmed:14702039 17q25.3 17 78803713G> A null R C 828 828 0.4091 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs763715224 17q25.3 17 78803712C> T null R H 828 828 missense 0.0 benign 0.56 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1259086470 17q25.3 17 78803706G> A null P L 830 830 missense 0.025 benign 0.13 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1259086470 17q25.3 17 78803706G> T null P Q 830 830 missense 0.147 benign 0.16 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1184768816 17q25.3 17 78803704G> A null Q * 831 831 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1448386705 17q25.3 17 78803689C> T null A T 836 836 missense 0.714 possibly damaging 0.06 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs931681416 17q25.3 17 78803683C> T null A T 838 838 missense 0.935 probably damaging 0.17 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs767156870 17q25.3 17 78803682G> A null A V 838 838 missense 0.955 probably damaging 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1357274491 17q25.3 17 78803680C> G null A P 839 839 missense 0.003 benign 0.19 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1357274491 17q25.3 17 78803680C> A null A S 839 839 missense 0.003 benign 0.34 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs774516360 17q25.3 17 78803677G> A null P S 840 840 missense 0.003 benign 0.28 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs766566497 17q25.3 17 78803673T> A null H L 841 841 missense 0.031 benign 0.78 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs773278219 17q25.3 17 78803671C> T null G R 842 842 missense 0.003 benign 0.63 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1232157363 17q25.3 17 78803667T> C null K R 843 843 missense 0.754 possibly damaging 0.23 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1398565405 17q25.3 17 78803658C> T null R K 846 846 missense 0.006 benign 0.96 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs777219017 17q25.3 17 78803654C> A null K N 847 847 missense 0.787 possibly damaging 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs748548914 17q25.3 17 78803655T> C null K R 847 847 missense 0.024 benign 0.98 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed rs768866105 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q25.3 17 78803652T> C null K R 848 848 missense 0.024 benign 0.38 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed rs768866105 17q25.3 17 78803652T> G null K T 848 848 missense 0.787 possibly damaging 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1179650299 17q25.3 17 78803650T> C null K E 849 849 missense 0.053 benign 0.02 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs780610441 17q25.3 17 78803648C> A null K N 849 849 missense 0.109 benign 0.01 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs747349917 17q25.3 17 78803649T> G null K T 849 849 missense 0.143 benign 0.01 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs202054047 17q25.3 17 78803647T> G null K Q 850 850 2.0E-4 missense 0.663 possibly damaging 0.02 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1567915061 17q25.3 17 78803646T> C null K R 850 850 missense 0.021 benign 0.42 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC rs777078952 17q25.3 17 78803644G> A null R C 851 851 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs369804184 17q25.3 17 78803643C> T null R H 851 851 missense 0.0 benign 0.35 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs369804184 17q25.3 17 78803643C> A null R L 851 851 missense 0.01 benign 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs989165767 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803640G> A null P L 852 852 missense 0.0 benign 0.51 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs935943523 17q25.3 17 78803637T> C null E G 853 853 missense 0.006 benign 0.42 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1336908007 17q25.3 17 78803638C> T null E K 853 853 missense 0.121 benign 0.49 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1355749406 17q25.3 17 78803634T> A null D V 854 854 missense 0.053 benign 0.01 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1464878186 17q25.3 17 78803628G> C null A G 856 856 missense 0.003 benign 0.47 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs754958212 17q25.3 17 78803623T> C null S G 858 858 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs751342755 17q25.3 17 78803622C> T null S N 858 858 missense 0.014 benign 0.01 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs751342755 17q25.3 17 78803622C> G null S T 858 858 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,gnomAD rs763096707 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 17q25.3 17 78803620C> T null A T 859 859 missense 0.0 benign 1.0 tolerated - low confidence 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs905253114 17q25.3 17 78803613T> C null Q R 861 861 missense 0.01 benign 0.27 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs750674479 17q25.3 17 78803607C> T null G E 863 863 missense 0.006 benign 0.67 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,gnomAD rs530616110 17q25.3 17 78803602T> A null T S 865 865 2.0E-4 missense 0.007 benign 0.48 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs1567914739 17q25.3 17 78803593G> A null Q * 868 868 stop gained 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs761988837 17q25.3 17 78803583C> A null S I 871 871 missense 0.605 possibly damaging 0.01 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,TOPMed rs370094599 17q25.3 17 78803580G> A null P L 872 872 missense 0.006 benign 0.29 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1221106047 17q25.3 17 78803577A> T null M K 873 873 missense 0.0 benign 0.8 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1379271927 17q25.3 17 78803572T> C null R G 875 875 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1193834475 17q25.3 17 78803568C> T null R K 876 876 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1447509673 17q25.3 17 78803551G> T null L M 882 882 missense 0.386 benign 0.06 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs747771918 17q25.3 17 78803545C> A null A S 884 884 missense 0.41 benign 0.23 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs747771918 17q25.3 17 78803545C> T null A T 884 884 missense 0.441 benign 0.2 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,gnomAD rs748890796 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803544G> A null A V 884 884 missense 0.031 benign 0.18 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1235241002 17q25.3 17 78803539T> C null R G 886 886 missense 0.003 benign 0.08 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs769146023 17q25.3 17 78803538C> G null R T 886 886 missense 0.058 benign 0.06 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61760231 pubmed:15489334 17q25.3 17 78803535C> G null R P 887 887 0.01677 missense 0.106 benign 0.19 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61760231 17q25.3 17 78803535C> T null R Q 887 887 0.01677 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs747662867 17q25.3 17 78803536G> A null R W 887 887 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1346280400 17q25.3 17 78803528T> G null E D 889 889 missense 0.006 benign 0.16 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs751504294 17q25.3 17 78803521T> G null T P 892 892 missense 0.187 benign 0.25 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs751504294 17q25.3 17 78803521T> A null T S 892 892 missense 0.007 benign 0.57 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1379098574 17q25.3 17 78803518G> C null Q E 893 893 missense 0.053 benign 0.1 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1173890410 17q25.3 17 78803514G> A null P L 894 894 missense 0.009 benign 1.0 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1190396939 17q25.3 17 78803505T> C null N S 897 897 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1475729082 17q25.3 17 78803499T> A null Q L 899 899 missense 0.058 benign 0.09 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs750573740 17q25.3 17 78803493A> T null V E 901 901 missense 0.503 possibly damaging 0.09 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1265212296 17q25.3 17 78803494C> G null V L 901 901 missense 0.146 benign 0.17 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs765471675 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 17q25.3 17 78803481G> A null T M 905 905 missense 0.48 possibly damaging 0.07 tolerated - low confidence 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs765471675 17q25.3 17 78803481G> C null T R 905 905 missense 0.443 benign 0.07 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1211166344 17q25.3 17 78803477G> T null D E 906 906 missense 0.779 possibly damaging 0.05 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs200106890 17q25.3 17 78803476C> G null G R 907 907 missense 0.343 benign 0.01 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200106890 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803476C> T null G S 907 907 missense 0.001 benign 0.59 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs764331946 17q25.3 17 78803471G> T null H Q 908 908 missense 0.011 benign 0.32 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs764331946 17q25.3 17 78803471G> C null H Q 908 908 missense 0.011 benign 0.32 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs773848703 17q25.3 17 78803472T> C null H R 908 908 missense 0.226 benign 0.45 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs537842306 17q25.3 17 78803468G> T null H Q 909 909 missense 0.022 benign 0.11 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs537842306 17q25.3 17 78803468G> C null H Q 909 909 missense 0.022 benign 0.11 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs545764041 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803466G> T null A E 910 910 2.0E-4 missense 0.131 benign 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs140856412 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 17q25.3 17 78803467C> T null A T 910 910 missense 0.038 benign 0.06 tolerated - low confidence 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs545764041 17q25.3 17 78803466G> A null A V 910 910 2.0E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,TOPMed,gnomAD rs563529475 17q25.3 17 78803462G> C null S R 911 911 2.0E-4 missense 0.424 benign 0.07 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1467312791 17q25.3 17 78803457C> T null R K 913 913 missense 0.003 benign 0.55 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs574545654 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803451C> T null R Q 915 915 2.0E-4 missense 0.07 benign 0.05 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs144517101 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803452G> A null R W 915 915 0.001398 missense 0.95 probably damaging 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1268542456 17q25.3 17 78803440C> T null G R 919 919 missense 0.024 benign 0.45 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1425445429 17q25.3 17 78803437C> A null A S 920 920 missense 0.011 benign 0.32 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs776054280 17q25.3 17 78803436G> A null A V 920 920 missense 0.011 benign 0.44 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs768169484 17q25.3 17 78803431C> A null G C 922 922 missense 0.961 probably damaging 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs768169484 17q25.3 17 78803431C> G null G R 922 922 missense 0.868 possibly damaging 0.08 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs768169484 17q25.3 17 78803431C> T null G S 922 922 missense 0.147 benign 0.29 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs944383596 17q25.3 17 78803424C> T null G D 924 924 missense 0.01 benign 0.75 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,gnomAD rs780000218 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung pubmed:20668451,cosmic_study:338 17q25.3 17 78803413C> T null G S 928 928 missense 0.005 benign 0.91 tolerated - low confidence 1 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1254516856 17q25.3 17 78803412C> A null G V 928 928 missense 0.007 benign 0.6 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs758375326 17q25.3 17 78803405G> C null H Q 930 930 missense 0.003 benign 0.47 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1291174906 17q25.3 17 78803403T> G null Q P 931 931 missense 0.656 possibly damaging 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1291174906 17q25.3 17 78803403T> C null Q R 931 931 missense 0.006 benign 0.5 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1453883616 17q25.3 17 78803401C> T null D N 932 932 missense 0.006 benign 0.16 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ESP,ExAC,TOPMed,gnomAD rs372509099 17q25.3 17 78803391C> T null R Q 935 935 missense 0.0 benign 0.63 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,NCI-TCGA,TOPMed,gnomAD rs745657752 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q25.3 17 78803392G> A null R W 935 935 missense 0.0 benign 0.48 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1340439184 17q25.3 17 78803388T> A null H L 936 936 missense 0.003 benign 0.05 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1354774792 17q25.3 17 78802534A> T null C S 938 938 missense 0.173 benign 0.1 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed,gnomAD rs1295233059 17q25.3 17 78802525T> C null M V 941 941 missense 0.0 benign 0.66 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1366859383 17q25.3 17 78802521C> T null G D 942 942 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1456266401 17q25.3 17 78802522C> T null G S 942 942 missense 0.007 benign 0.38 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs757013432 17q25.3 17 78802510G> C null P A 946 946 missense 0.007 benign 0.05 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1440604569 17q25.3 17 78802506T> C null E G 947 947 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1224122078 17q25.3 17 78802503G> T null A D 948 948 missense 0.001 benign 0.19 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase TOPMed rs1359570534 17q25.3 17 78802504C> A null A S 948 948 missense 0.003 benign 0.37 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs749475768 17q25.3 17 78802501T> C null M V 949 949 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1176960588 17q25.3 17 78802492A> G null S P 952 952 missense 0.027 benign 0.04 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs778169878 17q25.3 17 78802489G> C null P A 953 953 missense 0.359 benign 0.02 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase gnomAD rs1268426395 17q25.3 17 78802488G> A null P L 953 953 missense 0.646 possibly damaging 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,gnomAD rs756444529 17q25.3 17 78802486T> C null R G 954 954 missense 0.646 possibly damaging 0.01 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase ExAC,TOPMed,gnomAD rs752801618 17q25.3 17 78802482T> C null K R 955 955 missense 0.026 benign 0.3 tolerated - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs75975389 17q25.3 17 78802479T> C null K R 956 956 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A075B784 USP36 Ubiquitin carboxyl-terminal hydrolase Ensembl rs868287092 17q25.3 17 78802470T> C null K R 959 959 missense 0.015 benign 0.99 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs778760987 18q21.33 18 62187521C> A null P T 6 6 missense 0.69 possibly damaging 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1211658119 18q21.33 18 62187525G> A null G E 7 7 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1466076763 18q21.33 18 62187524G> A null G R 7 7 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs200950948 18q21.33 18 62187536A> G null S G 11 11 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367903884 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62187537G> A null S N 11 11 missense 0.258 benign 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs200065931 18q21.33 18 62187538T> G null S R 11 11 missense 0.697 possibly damaging 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs200950948 18q21.33 18 62187536A> C null S R 11 11 missense 0.697 possibly damaging 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs746078695 18q21.33 18 62187539G> A null G S 12 12 missense 0.216 benign 0.13 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1192996176 18q21.33 18 62187542G> A null G S 13 13 missense 0.028 benign 0.3 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1459096129 18q21.33 18 62187570C> T null S L 22 22 missense 0.284 benign 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181701851 18q21.33 18 62187574T> A null D E 23 23 2.0E-4 missense 0.044 benign 0.53 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs769346600 18q21.33 18 62187573A> G null D G 23 23 missense 0.756 possibly damaging 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1295845849 18q21.33 18 62187579A> G null D G 25 25 missense 0.197 benign 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs751585155 18q21.33 18 62187578G> A null D N 25 25 missense 0.425 benign 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs751585155 18q21.33 18 62187578G> T null D Y 25 25 missense 0.837 possibly damaging 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1371249939 18q21.33 18 62187585A> C null D A 27 27 missense 0.253 benign 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1371249939 18q21.33 18 62187585A> G null D G 27 27 missense 0.423 benign 0.02 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs767904689 18q21.33 18 62187590G> A null V I 29 29 missense 0.539 possibly damaging 0.14 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs767904689 18q21.33 18 62187590G> T null V L 29 29 missense 0.452 possibly damaging 0.23 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1474871282 18q21.33 18 62187593G> A null A T 30 30 missense 0.272 benign 0.09 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs919919957 18q21.33 18 62187602G> A null E K 33 33 missense 0.096 benign 0.03 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs760410893 18q21.33 18 62187605G> T null E * 34 34 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs765885577 18q21.33 18 62187606A> G null E G 34 34 missense 0.015 benign 0.04 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1347922953 18q21.33 18 62187608C> T null R W 35 35 missense 0.828 possibly damaging 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs754467910 18q21.33 18 62187612G> C null R P 36 36 missense 0.97 probably damaging 0.23 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1476687462 18q21.33 18 62187614G> A null A T 37 37 missense 0.011 benign 0.12 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1480024878 18q21.33 18 62187615C> T null A V 37 37 missense 0.272 benign 0.05 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs752596882 18q21.33 18 62187618T> A null V E 38 38 missense 0.171 benign 0.24 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1187293672 18q21.33 18 62187621T> C null L P 39 39 missense 0.994 probably damaging 0.24 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs917749081 18q21.33 18 62187620C> G null L V 39 39 missense 0.94 probably damaging 0.32 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs949180728 18q21.33 18 62187624G> C null R P 40 40 missense 0.986 probably damaging 0.03 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC rs772950526 18q21.33 18 62187625_62187626insTAGAATCTGAATCTTTTATTTCTTTGTATAG C null L * 41 41 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs758174003 18q21.33 18 62187627T> G null L R 41 41 missense 0.956 probably damaging 0.12 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1275532899 18q21.33 18 62187629G> T null G C 42 42 missense 0.89 possibly damaging 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs374883596 18q21.33 18 62187630G> A null G D 42 42 missense 0.599 possibly damaging 0.08 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1355683019 18q21.33 18 62187635G> A null G R 44 44 missense 0.835 possibly damaging 0.05 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs951621840 18q21.33 18 62187640T> G null S R 45 45 missense 0.187 benign 0.56 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1340248135 18q21.33 18 62187641G> T null G C 46 46 missense 0.029 benign 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs983541754 18q21.33 18 62187647G> T null D Y 48 48 missense 0.926 probably damaging 0.02 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146488728 18q21.33 18 62187653G> A null G S 50 50 0.003994 missense 0.148 benign 0.23 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs780410184 18q21.33 18 62187657C> T null S F 51 51 missense 0.481 possibly damaging 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1352505712 18q21.33 18 62187663G> A null G D 53 53 missense 0.015 benign 0.3 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1352505712 18q21.33 18 62187663G> T null G V 53 53 missense 0.697 possibly damaging 0.02 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1413197833 18q21.33 18 62187666C> T null S L 54 54 missense 0.475 possibly damaging 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1413197833 18q21.33 18 62187666C> G null S W 54 54 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1292946832 18q21.33 18 62187669T> C null L P 55 55 missense 0.945 probably damaging 0.02 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1292946832 18q21.33 18 62187669T> G null L R 55 55 missense 0.921 probably damaging 0.09 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1270721415 18q21.33 18 62187684C> T null P L 60 60 missense 0.783 possibly damaging 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs779613986 18q21.33 18 62187683C> T null P S 60 60 missense 0.686 possibly damaging 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs772421938 18q21.33 18 62187690C> G null A G 62 62 missense 0.622 possibly damaging 0.11 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes rs576563451 18q21.33 18 62187696G> A null G E 64 64 2.0E-4 missense 0.481 possibly damaging 0.09 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs773634162 18q21.33 18 62187705C> A null A E 67 67 missense 0.009 benign 0.11 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,TOPMed,gnomAD rs545382325 18q21.33 18 62187708G> A null R Q 68 68 3.99E-4 missense 0.053 benign 0.04 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs537167946 18q21.33 18 62187711C> A null P Q 69 69 missense 0.715 possibly damaging 0.07 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1417920275 18q21.33 18 62187720C> T null P L 72 72 missense 0.005 benign 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1159265017 18q21.33 18 62187729C> T null A V 75 75 missense 0.007 benign 0.11 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1169252134 18q21.33 18 62187732C> T null S L 76 76 missense 0.017 benign 0.18 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1193605855 18q21.33 18 62187734G> A null A T 77 77 missense 0.543 possibly damaging 0.13 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1432989837 18q21.33 18 62187735C> T null A V 77 77 missense 0.105 benign 0.05 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs759084019 18q21.33 18 62187738C> G null A G 78 78 missense 0.018 benign 0.33 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1430580327 18q21.33 18 62187744T> C null V A 80 80 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs921686305 18q21.33 18 62187746G> A null A T 81 81 missense 0.011 benign 0.13 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1193099677 18q21.33 18 62187747C> T null A V 81 81 missense 0.046 benign 0.08 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1568279086 18q21.33 18 62187750T> G null L R 82 82 missense 0.522 possibly damaging 0.45 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs752153045 18q21.33 18 62187752G> A null G R 83 83 missense 0.715 possibly damaging 0.02 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs964313143 18q21.33 18 62187756G> C null G A 84 84 missense 0.011 benign 0.74 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,TOPMed,gnomAD rs562549635 18q21.33 18 62187755G> T null G C 84 84 2.0E-4 missense 0.043 benign 0.11 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs964313143 18q21.33 18 62187756G> T null G V 84 84 missense 0.027 benign 0.13 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1215056898 18q21.33 18 62187758A> G null T A 85 85 missense 0.0 benign 0.69 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1568279226 18q21.33 18 62187759C> T null T I 85 85 missense 0.037 benign 0.14 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1345104312 18q21.33 18 62187761G> C null G R 86 86 missense 0.874 possibly damaging 0.02 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs756998932 18q21.33 18 62187768C> A null T N 88 88 missense 0.162 benign 0.18 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1443799024 18q21.33 18 62187770C> G null P A 89 89 missense 0.087 benign 0.21 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1212625340 18q21.33 18 62187771C> T null P L 89 89 missense 0.267 benign 0.03 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs780465096 18q21.33 18 62187774C> A null A D 90 90 missense 0.255 benign 0.15 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1475312694 18q21.33 18 62187785A> G null I V 94 94 missense 0.0 benign 0.48 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs542520871 18q21.33 18 62187788G> A null D N 95 95 2.0E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs755204490 18q21.33 18 62187792C> G null A G 96 96 missense 0.035 benign 0.37 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs755204490 18q21.33 18 62187792C> T null A V 96 96 missense 0.021 benign 0.35 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1316550621 18q21.33 18 62187812C> T null R C 103 103 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1435619162 18q21.33 18 62187816A> G null D G 104 104 missense 0.498 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1344363917 18q21.33 18 62187815G> A null D N 104 104 missense 0.935 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs372309054 18q21.33 18 62187818C> G null Q E 105 105 missense 0.356 benign 0.03 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs372309054 18q21.33 18 62187818C> A null Q K 105 105 missense 0.053 benign 0.15 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs918046290 18q21.33 18 62187821T> A null Y N 106 106 missense 0.837 possibly damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1232849571 18q21.33 18 62187824T> G null L V 107 107 missense 0.017 benign 0.29 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs778125652 18q21.33 18 62187825T> G null L W 107 107 missense 0.042 benign 0.2 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1463270940 18q21.33 18 62187846A> T null H L 114 114 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs776312628 18q21.33 18 62187874G> C null E D 123 123 missense 0.994 probably damaging 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs759206690 18q21.33 18 62187879C> G null P R 125 125 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1397017393 18q21.33 18 62187900C> T null S F 132 132 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs769394604 18q21.33 18 62187908G> A null G S 135 135 missense 0.993 probably damaging 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs980598271 18q21.33 18 62187911A> C null N H 136 136 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1333567913 18q21.33 18 62187921G> A null R K 139 139 missense 0.646 possibly damaging 0.2 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1392137752 18q21.33 18 62187932A> G null T A 143 143 missense 0.017 benign 0.11 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs936607512 18q21.33 18 62187933C> T null T I 143 143 missense 0.447 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs936607512 18q21.33 18 62187933C> G null T S 143 143 missense 0.138 benign 0.27 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs190951248 18q21.33 18 62187939C> T null P L 145 145 2.0E-4 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1439462211 18q21.33 18 62187938C> T null P S 145 145 missense 0.169 benign 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1333204376 18q21.33 18 62187946G> C null M I 147 147 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs564557960 18q21.33 18 62187944A> T null M L 147 147 2.0E-4 missense 0.0 benign 0.77 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs761718974 18q21.33 18 62187945T> C null M T 147 147 missense 0.0 benign 0.58 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs767445676 18q21.33 18 62187950G> A null A T 149 149 missense 0.096 benign 0.04 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1053675783 18q21.33 18 62187956G> A null G R 151 151 missense 0.813 possibly damaging 0.79 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs371637571 18q21.33 18 62187960T> C null V A 152 152 missense 0.061 benign 0.03 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs371637571 18q21.33 18 62187960T> A null V D 152 152 missense 0.305 benign 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed rs765501665 18q21.33 18 62187963C> G null P R 153 153 missense 0.522 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs752884461 18q21.33 18 62187965G> A null G R 154 154 missense 0.913 probably damaging 0.03 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs758399404 18q21.33 18 62187974G> T null G C 157 157 missense 0.033 benign 0.06 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1045207314 18q21.33 18 62187977G> T null V F 158 158 missense 0.005 benign 0.11 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1415354313 18q21.33 18 62187978T> G null V G 158 158 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1045207314 18q21.33 18 62187977G> A null V I 158 158 missense 0.003 benign 0.56 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs747449278 18q21.33 18 62187981G> A null G E 159 159 missense 0.913 probably damaging 0.02 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1392874203 18q21.33 18 62187983G> A null G S 160 160 missense 0.077 benign 0.21 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1407645801 18q21.33 18 62187986G> A null A T 161 161 missense 0.024 benign 0.11 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs757710751 18q21.33 18 62187996G> A null R Q 164 164 missense 0.559 possibly damaging 0.27 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs781566024 18q21.33 18 62187998G> C null E Q 165 165 missense 0.812 possibly damaging 0.1 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1353943042 18q21.33 18 62188002C> T null P L 166 166 missense 0.572 possibly damaging 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1004122252 18q21.33 18 62188001C> T null P S 166 166 missense 0.557 possibly damaging 0.09 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1244609199 18q21.33 18 62188005G> A null S N 167 167 missense 0.521 possibly damaging 0.08 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1435632229 18q21.33 18 62188007A> G null T A 168 168 missense 0.197 benign 0.07 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs769449781 18q21.33 18 62188010G> A null A T 169 169 missense 0.003 benign 0.84 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,TOPMed,gnomAD rs199924825 18q21.33 18 62188014C> T null S L 170 170 2.0E-4 missense 0.71 possibly damaging 0.17 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1483444229 18q21.33 18 62188016G> A null G S 171 171 missense 0.611 possibly damaging 0.18 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1474755032 18q21.33 18 62188022G> A null G R 173 173 missense 0.692 possibly damaging 0.03 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs777421720 18q21.33 18 62188025C> G null Q E 174 174 missense 0.007 benign 0.4 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs761685015 18q21.33 18 62188026A> G null Q R 174 174 missense 0.012 benign 0.28 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs767492867 18q21.33 18 62188028C> T null L F 175 175 missense 0.188 benign 0.01 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs779804829 cosmic curated [Cosmic]: endometrium, [Cosmic]: NS, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:24265154,cosmic_study:419,cosmic_study:526 18q21.33 18 62211155C> T null R * 177 177 missense 1 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1027720045 18q21.33 18 62211156G> A null R Q 177 177 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs868465686 18q21.33 18 62211162G> T null G V 179 179 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs768313361 18q21.33 18 62211167A> C null I L 181 181 missense 0.471 possibly damaging 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1005530683 18q21.33 18 62211171G> A null S N 182 182 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1356631008 18q21.33 18 62211182T> G null S A 186 186 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1015699091 18q21.33 18 62211197A> G null R G 191 191 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1234209834 18q21.33 18 62211203T> C null S P 193 193 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs747601098 18q21.33 18 62211207A> T null D V 194 194 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs199749303 18q21.33 18 62211213G> A null G D 196 196 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs866773692 18q21.33 18 62211217C> A null N K 197 197 missense 0.817 possibly damaging 0.05 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1466218343 18q21.33 18 62211222A> T null E V 199 199 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs766069544 18q21.33 18 62211224A> G null T A 200 200 missense 0.037 benign 0.23 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1266014414 18q21.33 18 62211230G> A null E K 202 202 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs776440238 18q21.33 18 62211233A> G null K E 203 203 missense 0.121 benign 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1361771416 18q21.33 18 62211240C> T null A V 205 205 missense 0.767 possibly damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs776296823 18q21.33 18 62221044G> T null E D 208 208 missense 0.894 possibly damaging 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs770863653 18q21.33 18 62221043A> G null E G 208 208 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1288973841 18q21.33 18 62221051C> G null L V 211 211 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs774553171 18q21.33 18 62221055G> A null R Q 212 212 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs768819144 18q21.33 18 62221054C> T null R W 212 212 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1235328526 18q21.33 18 62221058A> C null K T 213 213 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs866018589 18q21.33 18 62221079C> A null A D 220 220 missense 0.628 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs761929319 18q21.33 18 62221085G> A null R Q 222 222 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs767606642 18q21.33 18 62221097C> A null T K 226 226 missense 0.851 possibly damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1268151969 18q21.33 18 62221100A> G null K R 227 227 missense 0.005 benign 0.57 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs761172974 18q21.33 18 62221105G> T null A S 229 229 missense 0.91 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs761172974 18q21.33 18 62221105G> A null A T 229 229 missense 0.677 possibly damaging 0.3 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1198799898 18q21.33 18 62221222A> G null H R 231 231 missense 0.048 benign 0.15 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1228433609 18q21.33 18 62221225A> C null E A 232 232 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs777161330 18q21.33 18 62221228T> G null V G 233 233 missense 0.124 benign 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs374893278 18q21.33 18 62221231C> T null P L 234 234 missense 0.127 benign 0.04 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,NCI-TCGA,TOPMed,gnomAD rs765723144 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 18q21.33 18 62221243G> A null R Q 238 238 missense 0.761 possibly damaging 0.14 tolerated 1 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1313142284 18q21.33 18 62221252du p null Y * 241 241 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1212684452 18q21.33 18 62221253C> A null Y * 241 241 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1246661927 18q21.33 18 62221257_62221258insAAAAA G null S * 243 243 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs758130508 18q21.33 18 62221261G> T null S I 244 244 missense 0.236 benign 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs758130508 18q21.33 18 62221261G> A null S N 244 244 missense 0.061 benign 0.13 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs763783639 18q21.33 18 62221273A> G null Q R 248 248 missense 0.72 possibly damaging 0.08 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs760124696 18q21.33 18 62221384G> T null E * 249 249 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1017912767 18q21.33 18 62221387C> G null P A 250 250 missense 0.304 benign 0.12 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1247461371 18q21.33 18 62221392C> G null I M 251 251 missense 0.666 possibly damaging 0.08 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1198268459 18q21.33 18 62221391T> C null I T 251 251 missense 0.666 possibly damaging 0.05 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1449872221 18q21.33 18 62221390A> G null I V 251 251 missense 0.203 benign 0.12 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs765776381 18q21.33 18 62221396C> T null P S 253 253 missense 0.666 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs765776381 18q21.33 18 62221396C> A null P T 253 253 missense 0.52 possibly damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,gnomAD rs375603973 18q21.33 18 62221412C> G null A G 258 258 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,gnomAD rs375603973 18q21.33 18 62221412C> T null A V 258 258 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1410928068 18q21.33 18 62221421T> A null F Y 261 261 missense 0.663 possibly damaging 0.07 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs922730319 18q21.33 18 62221449T> A null N K 270 270 missense 0.966 probably damaging 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs201602986 18q21.33 18 62221454A> G null Y C 272 272 missense 0.501 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1339393100 18q21.33 18 62221468A> G null I V 277 277 missense 0.936 probably damaging 0.12 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1388392073 18q21.33 18 62221472C> A null T N 278 278 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs763906706 18q21.33 18 62221490A> G null D G 284 284 missense 0.09 benign 0.06 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1404179703 18q21.33 18 62221489G> A null D N 284 284 missense 0.829 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs200582897 18q21.33 18 62227296A> G null E G 289 289 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs199806205 18q21.33 18 62227295G> A null E K 289 289 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1441679557 18q21.33 18 62227309T> G null D E 293 293 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs760171193 18q21.33 18 62227314G> C null G A 295 295 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1255850193 18q21.33 18 62227313G> C null G R 295 295 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1473997017 18q21.33 18 62227322A> T null I F 298 298 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1447070258 18q21.33 18 62227325C> A null P T 299 299 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1459056582 18q21.33 18 62227349C> G null L V 307 307 missense 0.936 probably damaging 0.04 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1395882884 18q21.33 18 62227355C> G null R G 309 309 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,NCI-TCGA,TOPMed,gnomAD rs778803019 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 18q21.33 18 62227356G> A null R Q 309 309 missense 0.998 probably damaging 0.0 deleterious 1 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1395882884 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62227355C> T null R W 309 309 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,TOPMed,gnomAD rs144111275 18q21.33 18 62227363T> G null F L 311 311 2.0E-4 missense 0.024 benign 0.16 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs199528367 18q21.33 18 62227364G> A null G R 312 312 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs202014198 18q21.33 18 62227370C> G null H D 314 314 missense 0.94 probably damaging 0.04 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,TOPMed,gnomAD rs200879691 18q21.33 18 62227375A> T null Q H 315 315 2.0E-4 missense 0.015 benign 0.59 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1297000378 18q21.33 18 62227374A> G null Q R 315 315 missense 0.347 benign 0.64 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs199993973 18q21.33 18 62227383G> C null G A 318 318 missense 0.007 benign 1.0 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs199993973 18q21.33 18 62227383G> A null G E 318 318 missense 0.259 benign 0.93 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed rs769963629 18q21.33 18 62227388G> T null D Y 320 320 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,gnomAD rs372575388 18q21.33 18 62227392T> A null L H 321 321 missense 0.832 possibly damaging 0.17 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1299767949 18q21.33 18 62227394G> A null V I 322 322 missense 0.759 possibly damaging 0.15 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs755098911 18q21.33 18 62227403G> A null A T 325 325 missense 0.871 possibly damaging 0.17 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1344027802 18q21.33 18 62227408T> A null S R 326 326 missense 0.897 possibly damaging 0.07 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1013775747 18q21.33 18 62227410G> C null G A 327 327 missense 0.5 possibly damaging 0.18 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1013775747 18q21.33 18 62227410G> A null G E 327 327 missense 0.71 possibly damaging 0.61 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1313752829 18q21.33 18 62227417A> C null E D 329 329 missense 0.017 benign 0.55 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1192353766 18q21.33 18 62227426A> C null E D 332 332 missense 0.164 benign 0.44 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,TOPMed,gnomAD rs374935665 18q21.33 18 62227430G> A null E K 334 334 missense 0.759 possibly damaging 0.07 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs201263092 18q21.33 18 62227434C> A null A D 335 335 missense 0.042 benign 0.41 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1173518899 18q21.33 18 62227440C> A null T K 337 337 missense 0.171 benign 0.38 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs920206764 18q21.33 18 62227442C> G null P A 338 338 missense 0.017 benign 0.27 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs769218271 18q21.33 18 62227449T> A null I K 340 340 missense 0.0 benign 0.9 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs769218271 18q21.33 18 62227449T> G null I R 340 340 missense 0.0 benign 0.59 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs769218271 18q21.33 18 62227449T> C null I T 340 340 missense 0.0 benign 0.64 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369238556 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62227448A> G null I V 340 340 2.0E-4 missense 0.0 benign 0.39 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1173545394 18q21.33 18 62227453C> A null S R 341 341 missense 0.259 benign 0.43 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs762069279 18q21.33 18 62227454A> G null N D 342 342 missense 0.007 benign 0.47 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1260231847 18q21.33 18 62227456C> A null N K 342 342 missense 0.176 benign 0.1 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1320529166 18q21.33 18 62227469C> G null L V 347 347 missense 0.044 benign 0.15 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs576239109 18q21.33 18 62227475A> C null T P 349 349 2.0E-4 missense 0.003 benign 0.21 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs772707448 18q21.33 18 62227484C> G null P A 352 352 missense 0.005 benign 0.56 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs772707448 18q21.33 18 62227484C> A null P T 352 352 missense 0.005 benign 0.53 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs760222641 18q21.33 18 62227487G> T null A S 353 353 missense 0.005 benign 0.9 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs770508587 18q21.33 18 62227605T> C null M T 357 357 missense 0.013 benign 0.46 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1568345253 18q21.33 18 62227604A> G null M V 357 357 missense 0.0 benign 0.55 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs759036753 18q21.33 18 62227634A> C null S R 367 367 missense 0.111 benign 0.33 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs534603181 18q21.33 18 62227638T> G null L W 368 368 missense 0.907 possibly damaging 0.07 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs765288194 18q21.33 18 62227643A> C null N H 370 370 missense 0.859 possibly damaging 0.03 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1227564818 18q21.33 18 62227651G> C null E D 372 372 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1348394053 18q21.33 18 62227649G> A null E K 372 372 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC rs762855597 18q21.33 18 62227661T> A null L M 376 376 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs763819132 18q21.33 18 62227671A> G null Q R 379 379 missense 0.631 possibly damaging 0.03 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1264315379 18q21.33 18 62227681A> C null R S 382 382 missense 0.01 benign 0.1 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1264315379 18q21.33 18 62227681A> T null R S 382 382 missense 0.01 benign 0.1 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1488548099 18q21.33 18 62227682C> T null L F 383 383 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1488548099 18q21.33 18 62227682C> A null L I 383 383 missense 0.972 probably damaging 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs949559124 18q21.33 18 62228314C> G null D E 388 388 missense 0.007 benign 0.52 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1196332483 18q21.33 18 62228312G> A null D N 388 388 missense 0.026 benign 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1205479335 18q21.33 18 62228315T> A null F I 389 389 missense 0.007 benign 0.45 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1481858751 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62228318C> T null L F 390 390 missense 0.702 possibly damaging 0.06 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1481858751 18q21.33 18 62228318C> G null L V 390 390 missense 0.897 possibly damaging 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1377768426 18q21.33 18 62228325A> G null N S 392 392 missense 0.007 benign 0.77 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1488558947 18q21.33 18 62228331A> G null H R 394 394 missense 0.001 benign 0.66 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1445256198 18q21.33 18 62228337C> T null A V 396 396 missense 0.033 benign 0.28 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs768704325 18q21.33 18 62228343C> T null P L 398 398 missense 0.159 benign 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1224537376 18q21.33 18 62228346C> A null A E 399 399 missense 0.012 benign 0.61 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs369763999 18q21.33 18 62228348G> T null V F 400 400 missense 0.361 benign 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1311964289 18q21.33 18 62228360G> T null V F 404 404 missense 0.005 benign 0.32 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1356047394 18q21.33 18 62228364A> T null Q L 405 405 missense 0.003 benign 0.2 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs774346258 18q21.33 18 62228388A> G null H R 413 413 missense 0.003 benign 0.36 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs994814435 18q21.33 18 62228397C> T null S F 416 416 missense 0.881 possibly damaging 0.13 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1302840086 18q21.33 18 62228414C> G null H D 422 422 missense 0.001 benign 0.61 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1405781022 18q21.33 18 62228420G> C null D H 424 424 missense 0.136 benign 0.06 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs766746059 18q21.33 18 62228432T> C null S P 428 428 missense 0.136 benign 0.23 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1211193722 18q21.33 18 62228438A> C null K Q 430 430 missense 0.005 benign 0.68 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs767922538 18q21.33 18 62228442G> A null G E 431 431 missense 0.0 benign 0.62 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC rs755176360 18q21.33 18 62228441G> A null G R 431 431 missense 0.005 benign 0.24 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1306745964 18q21.33 18 62228444A> G null K E 432 432 missense 0.0 benign 0.95 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149719715 18q21.33 18 62228451C> G null T R 434 434 3.99E-4 missense 0.037 benign 0.51 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1274766004 18q21.33 18 62228457T> A null I N 436 436 missense 0.003 benign 0.51 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs145589690 18q21.33 18 62228460A> G null H R 437 437 missense 0.0 benign 0.63 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1309565939 18q21.33 18 62228459C> T null H Y 437 437 missense 0.028 benign 0.04 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs758846296 18q21.33 18 62228468A> G null I V 440 440 missense 0.0 benign 1.0 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1005862403 18q21.33 18 62228475A> T null D V 442 442 missense 0.027 benign 0.06 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,gnomAD rs373258912 18q21.33 18 62228489A> G null T A 447 447 missense 0.007 benign 0.79 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1052027816 18q21.33 18 62228492A> G null I V 448 448 missense 0.007 benign 1.0 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1429022838 18q21.33 18 62228499A> G null K R 450 450 missense 0.259 benign 0.28 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs890412395 18q21.33 18 62228501G> C null E Q 451 451 missense 0.042 benign 0.41 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs371167597 18q21.33 18 62228505A> G null N S 452 452 missense 0.025 benign 0.7 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs202119767 18q21.33 18 62228511C> T null P L 454 454 2.0E-4 missense 0.015 benign 0.33 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs202119767 18q21.33 18 62228511C> G null P R 454 454 2.0E-4 missense 0.026 benign 0.39 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs997389574 18q21.33 18 62228513A> G null N D 455 455 missense 0.015 benign 0.47 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1030161219 18q21.33 18 62228529G> A null R K 460 460 missense 0.0 benign 1.0 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1030161219 18q21.33 18 62228529G> C null R T 460 460 missense 0.062 benign 0.58 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1258689664 18q21.33 18 62228534A> G null R G 462 462 missense 0.003 benign 0.49 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs748816015 18q21.33 18 62228540G> A null G R 464 464 missense 0.015 benign 0.36 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1439818064 18q21.33 18 62228545G> A null M I 465 465 missense 0.007 benign 0.55 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1363826858 18q21.33 18 62228543A> G null M V 465 465 missense 0.007 benign 0.44 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1271518506 18q21.33 18 62228547C> T null P L 466 466 missense 0.015 benign 0.39 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs768780642 18q21.33 18 62228546C> T null P S 466 466 missense 0.012 benign 0.74 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1217797647 18q21.33 18 62228555T> C null S P 469 469 missense 0.015 benign 0.11 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs772010787 18q21.33 18 62228556C> A null S Y 469 469 missense 0.634 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs773099199 18q21.33 18 62228565G> C null S T 472 472 missense 0.027 benign 0.29 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs759678427 18q21.33 18 62228567A> G null K E 473 473 missense 0.078 benign 0.34 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1333075506 18q21.33 18 62228571A> C null K T 474 474 missense 0.007 benign 0.58 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs765444917 18q21.33 18 62228579C> A null H N 477 477 missense 0.259 benign 0.16 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs113988295 18q21.33 18 62228583T> C null F S 478 478 missense 0.236 benign 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1390940806 18q21.33 18 62228587T> G null D E 479 479 missense 0.515 possibly damaging 0.12 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs752779828 18q21.33 18 62228586A> G null D G 479 479 missense 0.793 possibly damaging 0.06 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs763088508 18q21.33 18 62228592C> G null P R 481 481 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs898806564 18q21.33 18 62228591C> T null P S 481 481 missense 0.417 benign 0.12 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1334027436 18q21.33 18 62228598G> T null R M 483 483 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1477180516 18q21.33 18 62228597A> T null R W 483 483 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146616407 18q21.33 18 62231204C> T null P S 487 487 3.99E-4 missense 0.117 benign 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1478001205 18q21.33 18 62231208C> G null A G 488 488 missense 0.816 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1367441226 18q21.33 18 62231226T> C null L P 494 494 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1318709535 18q21.33 18 62231225C> G null L V 494 494 missense 0.972 probably damaging 0.22 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs764182124 18q21.33 18 62231229C> G null S C 495 495 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs934654971 18q21.33 18 62231228T> C null S P 495 495 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs762314033 18q21.33 18 62231238G> T null R L 498 498 missense 0.07 benign 0.15 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs762314033 18q21.33 18 62231238G> A null R Q 498 498 missense 0.041 benign 0.27 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1245358597 18q21.33 18 62231240A> C null M L 499 499 missense 0.356 benign 0.16 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1292716732 cosmic curated [Cosmic]: large_intestine pubmed:23856246,cosmic_study:504 18q21.33 18 62231249G> A null D N 502 502 missense 0.731 possibly damaging 0.04 deleterious 1 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1306173249 18q21.33 18 62231250A> T null D V 502 502 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1237779149 18q21.33 18 62231252A> G null S G 503 503 missense 0.882 possibly damaging 0.1 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs761875974 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 18q21.33 18 62232338C> T null R C 511 511 missense 0.959 probably damaging 0.0 deleterious 1 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs555099518 NCI-TCGA Cosmic [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22037554,cosmic_study:479 18q21.33 18 62232339G> A null R H 511 511 2.0E-4 missense 0.14 benign 0.17 tolerated 1 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1195679700 18q21.33 18 62232351G> A null S N 515 515 missense 0.362 benign 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,gnomAD rs376702378 18q21.33 18 62232361C> G null S R 518 518 missense 0.367 benign 0.11 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,gnomAD rs376702378 18q21.33 18 62232361C> A null S R 518 518 missense 0.367 benign 0.11 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs147104823 18q21.33 18 62232362G> A null V I 519 519 missense 0.721 possibly damaging 0.11 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs533925080 18q21.33 18 62232366T> G null M R 520 520 2.0E-4 missense 0.777 possibly damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs533925080 18q21.33 18 62232366T> C null M T 520 520 2.0E-4 missense 0.062 benign 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs960273183 18q21.33 18 62232401C> A null P T 532 532 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1229289481 18q21.33 18 62232407G> A null V M 534 534 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1280441518 18q21.33 18 62232416G> A null A T 537 537 missense 0.968 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,gnomAD rs376853168 18q21.33 18 62244771T> G null I S 543 543 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1486592971 18q21.33 18 62244776C> A null L I 545 545 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs777752033 18q21.33 18 62244779A> T null I L 546 546 missense 0.643 possibly damaging 0.2 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs777752033 18q21.33 18 62244779A> G null I V 546 546 missense 0.941 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1432034543 18q21.33 18 62244785T> G null C G 548 548 missense 0.962 probably damaging 0.1 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs750257764 18q21.33 18 62244791G> A null A T 550 550 missense 0.763 possibly damaging 0.13 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs150243588 18q21.33 18 62244803C> T null P S 554 554 missense 0.93 probably damaging 0.1 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs772115853 18q21.33 18 62244806G> A null E K 555 555 missense 0.565 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed rs368797409 18q21.33 18 62244818C> T null R * 559 559 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed rs368797409 18q21.33 18 62244818C> G null R G 559 559 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs771531978 18q21.33 18 62244819G> A null R Q 559 559 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1035952383 18q21.33 18 62244838A> G null I M 565 565 missense 0.666 possibly damaging 0.08 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs777249176 18q21.33 18 62244848T> G null L V 569 569 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs906964173 18q21.33 18 62244854A> C null K Q 571 571 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs760031061 18q21.33 18 62244869G> A null E K 576 576 missense 0.922 probably damaging 0.03 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1056419242 18q21.33 18 62244874A> T null Q H 577 577 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1304694330 18q21.33 18 62244873A> T null Q L 577 577 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,dbSNP,gnomAD rs386352321 18q21.33 18 62252665C> A null Q K 579 579 missense 0.906 possibly damaging 0.12 tolerated 1 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs773852098 18q21.33 18 62252668A> G null M V 580 580 missense 0.516 possibly damaging 0.18 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1382949475 18q21.33 18 62252695G> T null A S 589 589 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1382949475 18q21.33 18 62252695G> A null A T 589 589 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs761477095 18q21.33 18 62252696C> T null A V 589 589 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1306069249 18q21.33 18 62252698C> T null R C 590 590 missense 0.212 benign 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371003639 18q21.33 18 62252699G> A null R H 590 590 3.99E-4 missense 0.463 possibly damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1296819991 cosmic curated [Cosmic]: large_intestine pubmed:23856246,cosmic_study:504 18q21.33 18 62252716C> T null R C 596 596 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs766286179 18q21.33 18 62252717G> A null R H 596 596 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs766286179 18q21.33 18 62252717G> T null R L 596 596 missense 1.0 probably damaging 0.06 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs754695818 18q21.33 18 62252725G> A null A T 599 599 missense 0.365 benign 0.3 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1430757944 18q21.33 18 62252731C> T null L F 601 601 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1054388160 18q21.33 18 62255411A> C null N T 610 610 missense 0.613 possibly damaging 0.07 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1219251716 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 18q21.33 18 62255431C> T null R * 617 617 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs772764186 18q21.33 18 62255443G> A null A T 621 621 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs760171214 18q21.33 18 62255446G> A null E K 622 622 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs766341253 18q21.33 18 62255453G> A null C Y 624 624 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs915876732 18q21.33 18 62255459C> T null A V 626 626 missense 0.665 possibly damaging 0.18 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs776412569 18q21.33 18 62255468C> G null P R 629 629 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1364439353 18q21.33 18 62255471A> T null Y F 630 630 missense 0.636 possibly damaging 0.13 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1290333051 18q21.33 18 62255470T> C null Y H 630 630 missense 0.501 possibly damaging 0.08 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1222086331 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62257957C> T null R C 636 636 missense 0.617 possibly damaging 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs769718627 18q21.33 18 62257958G> A null R H 636 636 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1485836736 18q21.33 18 62257964C> T null S F 638 638 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs915111752 18q21.33 18 62257970T> G null V G 640 640 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs978137849 18q21.33 18 62258015T> C null L S 655 655 missense 0.578 possibly damaging 0.06 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs750654710 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 18q21.33 18 62258023G> A null E K 658 658 missense 0.998 probably damaging 0.01 deleterious 1 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs760938625 18q21.33 18 62258026G> T null A S 659 659 missense 0.984 probably damaging 0.15 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1028973496 18q21.33 18 62258032A> G null I V 661 661 missense 0.067 benign 1.0 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1407443496 18q21.33 18 62258054T> C null M T 668 668 missense 0.714 possibly damaging 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146220305 18q21.33 18 62258053A> G null M V 668 668 5.99E-4 missense 0.912 probably damaging 0.12 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,gnomAD rs376083695 18q21.33 18 62258060A> G null Y C 670 670 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1335709699 18q21.33 18 62258072C> T null P L 674 674 missense 0.645 possibly damaging 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1443610981 18q21.33 18 62258076C> A null D E 675 675 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1311528185 18q21.33 18 62258081A> T null Y F 677 677 missense 0.983 probably damaging 0.15 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs755491959 18q21.33 18 62258086C> A null Q K 679 679 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs547182398 18q21.33 18 62258512G> A null G S 680 680 2.0E-4 missense 0.977 probably damaging 0.18 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs753928422 18q21.33 18 62258533G> T null A S 687 687 missense 0.3 benign 0.4 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1460437819 18q21.33 18 62258545C> T null P S 691 691 missense 0.172 benign 0.14 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1011050592 cosmic curated [Cosmic]: breast pubmed:19812674,cosmic_study:314 18q21.33 18 62258555G> A null R K 694 694 missense 0.598 possibly damaging 0.13 tolerated 1 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1444900691 18q21.33 18 62258566G> A null A T 698 698 missense 0.984 probably damaging 0.05 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1443174428 18q21.33 18 62258569A> G null T A 699 699 missense 0.025 benign 0.6 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs746069802 18q21.33 18 62258572C> T null H Y 700 700 missense 0.989 probably damaging 0.28 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1382790460 18q21.33 18 62258576A> G null Q R 701 701 missense 0.996 probably damaging 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs756917512 18q21.33 18 62258599G> A null A T 709 709 missense 0.862 possibly damaging 0.03 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,NCI-TCGA,gnomAD rs780897375 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62258600C> T null A V 709 709 missense 0.147 benign 0.15 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs191406265 18q21.33 18 62258625A> C null L F 717 717 missense 0.989 probably damaging 0.03 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1220252088 18q21.33 18 62258623T> G null L V 717 717 missense 0.984 probably damaging 0.03 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1439201697 18q21.33 18 62258626C> T null Q * 718 718 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1322777255 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62258632C> T null H Y 720 720 missense 0.95 probably damaging 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,TOPMed rs370343507 18q21.33 18 62258639T> C null I T 722 722 missense 0.898 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1037282531 18q21.33 18 62258642T> G null L R 723 723 missense 0.403 benign 0.1 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs763202785 18q21.33 18 62258645C> T null T I 724 724 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1188484951 18q21.33 18 62258654A> G null N S 727 727 missense 0.012 benign 0.7 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed rs777741251 18q21.33 18 62258660T> G null I S 729 729 missense 0.924 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed rs777741251 18q21.33 18 62258660T> C null I T 729 729 missense 0.899 possibly damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs776889604 18q21.33 18 62258665A> G null K E 731 731 missense 0.23 benign 0.21 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs373764693 18q21.33 18 62258669T> C null L P 732 732 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs570415821 18q21.33 18 62258675G> A null R K 734 734 2.0E-4 missense 0.017 benign 0.72 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs771922144 18q21.33 18 62261511G> A null E K 735 735 missense 0.12 benign 0.24 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1046301146 18q21.33 18 62261515G> A null G E 736 736 missense 0.55 possibly damaging 0.13 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1161973079 18q21.33 18 62261514G> A null G R 736 736 missense 0.934 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs746107735 18q21.33 18 62261521A> G null H R 738 738 missense 0.06 benign 0.31 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs769946420 18q21.33 18 62261526C> G null L V 740 740 missense 0.866 possibly damaging 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1371127749 18q21.33 18 62261531T> G null D E 741 741 missense 0.602 possibly damaging 0.32 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs775604784 18q21.33 18 62261529G> A null D N 741 741 missense 0.829 possibly damaging 0.07 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs142362396 18q21.33 18 62261535C> A null H N 743 743 missense 0.493 possibly damaging 0.12 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs142362396 18q21.33 18 62261535C> T null H Y 743 743 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,TOPMed,gnomAD rs546632543 18q21.33 18 62261540A> C null K N 744 744 2.0E-4 missense 0.941 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1307055174 18q21.33 18 62261539A> G null K R 744 744 missense 0.677 possibly damaging 0.35 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs925629627 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 18q21.33 18 62261541C> T null L F 745 745 missense 0.895 possibly damaging 0.23 tolerated 1 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs774903382 18q21.33 18 62261545A> C null H P 746 746 missense 0.342 benign 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs146015918 18q21.33 18 62261549G> T null M I 747 747 missense 0.027 benign 0.19 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs762181413 18q21.33 18 62261548T> A null M K 747 747 missense 0.259 benign 0.11 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs750693301 18q21.33 18 62261554T> C null L P 749 749 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,gnomAD rs201670645 18q21.33 18 62261576C> G null I M 756 756 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1187038688 18q21.33 18 62261605A> G null N S 766 766 missense 0.052 benign 0.33 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1181915955 18q21.33 18 62261628A> G null K E 774 774 missense 0.075 benign 0.07 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs778515444 18q21.33 18 62261629A> G null K R 774 774 missense 0.041 benign 0.2 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs758204529 18q21.33 18 62261635A> T null H L 776 776 missense 0.259 benign 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs758204529 18q21.33 18 62261635A> C null H P 776 776 missense 0.588 possibly damaging 0.04 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs758204529 18q21.33 18 62261635A> G null H R 776 776 missense 0.015 benign 0.03 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1352593900 18q21.33 18 62261638G> A null G D 777 777 missense 0.503 possibly damaging 0.28 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1205301376 18q21.33 18 62261654A> G null I M 782 782 missense 0.716 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75589884 18q21.33 18 62261652A> G null I V 782 782 7.99E-4 missense 0.158 benign 0.35 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs751410965 18q21.33 18 62264001C> T null P L 788 788 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs757028191 18q21.33 18 62264004G> A null R Q 789 789 missense 0.98 probably damaging 0.14 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs535205893 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 18q21.33 18 62264003C> T null R W 789 789 missense 0.998 probably damaging 0.01 deleterious 1 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374810725 18q21.33 18 62264011G> A null M I 791 791 2.0E-4 missense 0.007 benign 0.2 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs780920433 18q21.33 18 62264009A> T null M L 791 791 missense 0.007 benign 0.38 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs780920433 18q21.33 18 62264009A> G null M V 791 791 missense 0.007 benign 0.44 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs768803416 18q21.33 18 62264013C> T null S L 792 792 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1269723674 18q21.33 18 62264015C> T null P S 793 793 missense 0.968 probably damaging 0.05 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs771452746 18q21.33 18 62264038T> G null I M 800 800 missense 0.771 possibly damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,NCI-TCGA,TOPMed,gnomAD rs761215171 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62264036A> G null I V 800 800 missense 0.203 benign 0.06 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1195005136 18q21.33 18 62264040T> C null I T 801 801 missense 0.815 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs777067029 18q21.33 18 62264042G> A null G R 802 802 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,NCI-TCGA,TOPMed,gnomAD rs759276755 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62264048C> T null R C 804 804 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,NCI-TCGA,TOPMed,gnomAD rs764785928 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 18q21.33 18 62264049G> A null R H 804 804 missense 0.142 benign 0.06 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs762338964 18q21.33 18 62264059G> C null L F 807 807 missense 0.811 possibly damaging 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs764146210 18q21.33 18 62264060G> T null A S 808 808 missense 0.139 benign 0.55 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1400268869 18q21.33 18 62264061C> T null A V 808 808 missense 0.334 benign 0.18 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1283211746 18q21.33 18 62264079A> G null Y C 814 814 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1283331105 18q21.33 18 62264078T> C null Y H 814 814 missense 0.846 possibly damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1568401045 18q21.33 18 62264085A> G null Y C 816 816 missense 0.908 possibly damaging 0.12 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs996603684 18q21.33 18 62264093G> C null E Q 819 819 missense 0.428 benign 0.32 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1438052771 18q21.33 18 62264112G> A null G D 825 825 missense 0.934 probably damaging 0.04 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1221040976 18q21.33 18 62264130G> A null W * 831 831 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1282381248 18q21.33 18 62264132G> A null V I 832 832 missense 0.906 possibly damaging 0.16 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1333610805 18q21.33 18 62264139A> G null N S 834 834 missense 0.977 probably damaging 0.13 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs763547987 18q21.33 18 62264743T> G null I R 841 841 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs763547987 18q21.33 18 62264743T> C null I T 841 841 missense 0.983 probably damaging 0.14 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs773786049 18q21.33 18 62264748A> G null I V 843 843 missense 0.055 benign 0.24 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1180063887 18q21.33 18 62264755G> A null G D 845 845 missense 0.637 possibly damaging 0.1 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs556365313 18q21.33 18 62264760A> G null I V 847 847 missense 0.092 benign 0.22 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1383029690 18q21.33 18 62264763A> C null N H 848 848 missense 0.428 benign 0.03 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1443125019 18q21.33 18 62264775A> C null T P 852 852 missense 0.037 benign 0.32 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,TOPMed,gnomAD rs568940190 18q21.33 18 62264782G> T null C F 854 854 3.99E-4 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs767435118 18q21.33 18 62264788A> C null H P 856 856 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs767435118 18q21.33 18 62264788A> G null H R 856 856 missense 0.894 possibly damaging 0.16 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed rs750255898 18q21.33 18 62264802T> A null F I 861 861 missense 0.903 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed rs750255898 18q21.33 18 62264802T> G null F V 861 861 missense 0.903 possibly damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs755839364 18q21.33 18 62264805T> C null F L 862 862 missense 0.941 probably damaging 0.21 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs774154780 18q21.33 18 62264810G> T null W C 863 863 missense 0.992 probably damaging 0.08 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1327513368 18q21.33 18 62264811C> T null R C 864 864 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs766145734 18q21.33 18 62264812G> A null R H 864 864 missense 0.81 possibly damaging 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs766145734 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 18q21.33 18 62264812G> T null R L 864 864 missense 0.623 possibly damaging 0.11 tolerated 1 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs369501125 18q21.33 18 62264821G> A null R Q 867 867 missense 0.854 possibly damaging 0.12 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1447636772 18q21.33 18 62264820C> T null R W 867 867 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs758579834 18q21.33 18 62264850A> G null K E 877 877 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1268736508 18q21.33 18 62266701G> A null V I 878 878 missense 0.422 benign 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1200614369 18q21.33 18 62266707C> T null P S 880 880 missense 0.93 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs761279230 18q21.33 18 62266710C> T null Q * 881 881 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs947852721 18q21.33 18 62266734T> C null S P 889 889 missense 0.085 benign 0.24 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1436306549 18q21.33 18 62266747T> C null I T 893 893 missense 0.184 benign 0.16 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs945249046 18q21.33 18 62268881G> A null G E 894 894 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1026204572 18q21.33 18 62268884A> G null N S 895 895 missense 0.259 benign 0.08 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1157472862 18q21.33 18 62268886G> T null G W 896 896 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs749654324 18q21.33 18 62268902C> G null A G 901 901 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1285743757 18q21.33 18 62268907G> A null V I 903 903 missense 0.94 probably damaging 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1196398048 18q21.33 18 62268911C> G null P R 904 904 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs969815449 18q21.33 18 62268920C> T null A V 907 907 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1265907447 18q21.33 18 62268923C> T null T I 908 908 missense 0.806 possibly damaging 0.3 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs771598235 18q21.33 18 62268928G> A null V I 910 910 missense 0.961 probably damaging 0.14 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs772641767 18q21.33 18 62268935C> T null T M 912 912 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs772641767 18q21.33 18 62268935C> G null T R 912 912 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1158345031 18q21.33 18 62268937T> A null C S 913 913 missense 0.334 benign 0.15 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs776355234 18q21.33 18 62268946C> A null Q K 916 916 missense 0.675 possibly damaging 0.16 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1359337774 18q21.33 18 62273986G> A null D N 919 919 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,NCI-TCGA,TOPMed,gnomAD rs777203676 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62273990G> A null R Q 920 920 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs746522623 18q21.33 18 62274002T> C null V A 924 924 missense 0.109 benign 0.13 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,dbSNP,gnomAD rs770815767 cosmic curated [Cosmic]: large_intestine, [UniProt]: a colorectal cancer sample; somatic mutation pubmed:16959974 pubmed:16959974 18q21.33 18 62274005G> A null G E 925 925 missense 0.061 benign 0.07 tolerated 1 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs770815767 18q21.33 18 62274005G> T null G V 925 925 missense 0.565 possibly damaging 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1258786688 18q21.33 18 62274007T> G null F V 926 926 missense 0.963 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1156823543 18q21.33 18 62274012A> T null L F 927 927 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs759343103 18q21.33 18 62274013G> A null E K 928 928 missense 0.158 benign 0.39 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1180951109 18q21.33 18 62274018T> G null D E 929 929 missense 0.866 possibly damaging 0.28 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs762143394 18q21.33 18 62274023T> C null M T 931 931 missense 0.778 possibly damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,NCI-TCGA,gnomAD rs767841073 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q21.33 18 62274026C> T null T M 932 932 missense 0.581 possibly damaging 0.16 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs754396869 18q21.33 18 62274043C> T null H Y 938 938 missense 0.088 benign 0.02 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs368985065 18q21.33 18 62274050C> A null P H 940 940 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1359415910 18q21.33 18 62274049C> T null P S 940 940 missense 0.814 possibly damaging 0.21 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1357393102 18q21.33 18 62274053T> C null L P 941 941 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1315158954 18q21.33 18 62274058A> G null S G 943 943 missense 0.457 possibly damaging 0.09 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,gnomAD rs371440710 18q21.33 18 62274067G> T null A S 946 946 missense 0.916 probably damaging 0.22 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1399858963 18q21.33 18 62274068C> T null A V 946 946 missense 0.914 probably damaging 0.11 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs1008317182 18q21.33 18 62274073T> C null F L 948 948 missense 0.59 possibly damaging 0.13 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1217576329 18q21.33 18 62274075T> G null F L 948 948 missense 0.59 possibly damaging 0.13 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1342395652 18q21.33 18 62274074T> A null F Y 948 948 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs758111542 18q21.33 18 62274076G> A null V M 949 949 missense 0.865 possibly damaging 0.06 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs79659632 18q21.33 18 62275375G> T null A S 953 953 missense 0.307 benign 0.32 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,TOPMed,gnomAD rs376669611 18q21.33 18 62275395G> C null E D 959 959 missense 0.815 possibly damaging 0.15 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1241215267 18q21.33 18 62275412T> C null L S 965 965 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs979694707 18q21.33 18 62275418A> G null Y C 967 967 missense 0.136 benign 0.1 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1176687771 18q21.33 18 62275423G> A null V I 969 969 missense 0.82 possibly damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1176687771 18q21.33 18 62275423G> C null V L 969 969 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1290530426 18q21.33 18 62275444G> T null V L 976 976 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs749185612 18q21.33 18 62275450T> A null C S 978 978 missense 0.735 possibly damaging 0.34 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs773948333 18q21.33 18 62275463G> A null R K 982 982 missense 0.776 possibly damaging 0.11 tolerated 0 A0A075B785 RELCH RAB11-binding protein RELCH ESP,ExAC,gnomAD rs372735779 18q21.33 18 62275466T> C null M T 983 983 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1173179461 18q21.33 18 62275477T> C null C R 987 987 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1194491257 18q21.33 18 62275487T> C null M T 990 990 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1472023696 18q21.33 18 62275486A> G null M V 990 990 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1415197703 18q21.33 18 62275490C> T null P L 991 991 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1455785735 18q21.33 18 62275489C> T null P S 991 991 missense 0.0 benign 0.48 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1463516098 18q21.33 18 62275497G> T null L F 993 993 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs776756782 18q21.33 18 62275498G> A null V I 994 994 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs776756782 18q21.33 18 62275498G> C null V L 994 994 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs945433180 18q21.33 18 62275504A> G null I V 996 996 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,TOPMed,gnomAD rs144971470 18q21.33 18 62275508T> C null I T 997 997 0.001797 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201628969 18q21.33 18 62275507A> G null I V 997 997 5.99E-4 missense 0.0 benign 0.24 tolerated - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs866257798 18q21.33 18 62275527G> T null L F 1003 1003 missense 0.034 benign 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH Ensembl rs867452236 18q21.33 18 62275526T> G null L W 1003 1003 missense 0.148 benign 0.0 deleterious - low confidence 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed rs776000835 18q21.33 18 62275528C> T null R * 1004 1004 stop gained 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed rs776000835 18q21.33 18 62275528C> G null R G 1004 1004 missense 0.017 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs562988046 18q21.33 18 62275529G> A null R Q 1004 1004 missense 0.01 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1276095014 18q21.33 18 62275532G> A null R K 1005 1005 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs751816402 18q21.33 18 62275534A> G null R G 1006 1006 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1238464955 18q21.33 18 62275535G> A null R K 1006 1006 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC rs767076869 18q21.33 18 62275542A> T null E D 1008 1008 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,TOPMed,gnomAD rs116229584 18q21.33 18 62275544T> G null F C 1009 1009 0.007188 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,gnomAD rs749996889 18q21.33 18 62275543T> A null F I 1009 1009 missense 0.001 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs551757409 18q21.33 18 62275545T> G null F L 1009 1009 2.0E-4 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs551757409 18q21.33 18 62275545T> A null F L 1009 1009 2.0E-4 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,TOPMed,gnomAD rs116229584 18q21.33 18 62275544T> A null F Y 1009 1009 0.007188 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH ExAC,TOPMed,gnomAD rs754812202 18q21.33 18 62275554A> G null I M 1012 1012 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed rs1255368572 18q21.33 18 62275556A> G null K R 1013 1013 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs138847150 18q21.33 18 62275559G> A null R K 1014 1014 2.0E-4 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH 1000Genomes,ExAC,gnomAD rs138847150 18q21.33 18 62275559G> T null R M 1014 1014 2.0E-4 missense 0.06 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1414168110 18q21.33 18 62275565G> T null C F 1016 1016 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH gnomAD rs1414168110 18q21.33 18 62275565G> A null C Y 1016 1016 missense 0.0 benign 0 A0A075B785 RELCH RAB11-binding protein RELCH TOPMed,gnomAD rs1334547246 18q21.33 18 62275569A> G null I M 1017 1017 missense 0.0 benign 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs768227005 1q31.3 1 198639273C> A null T N 2 2 missense 0.346 benign 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs772724488 1q31.3 1 198639276T> C null M T 3 3 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,gnomAD rs368929179 1q31.3 1 198639275A> G null M V 3 3 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs773900940 1q31.3 1 198639279A> G null Y C 4 4 missense 0.007 benign 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs761069010 1q31.3 1 198639284T> A null W R 6 6 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1186725402 1q31.3 1 198639298G> C null L F 10 10 missense 0.999 probably damaging 0.05 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs61757803 1q31.3 1 198639296T> G null L V 10 10 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs759684142 1q31.3 1 198639299G> T null A S 11 11 missense 0.93 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs759684142 1q31.3 1 198639299G> A null A T 11 11 missense 0.786 possibly damaging 0.12 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1426202766 1q31.3 1 198639306G> A null G D 13 13 missense 0.937 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs752797028 1q31.3 1 198639312C> T null A V 15 15 missense 0.068 benign 0.18 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs781080051 1q31.3 1 198639320G> C null D H 18 18 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs781080051 1q31.3 1 198639320G> A null D N 18 18 missense 0.46 possibly damaging 0.08 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1288480100 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 198639329G> T null V L 21 21 missense 0.176 benign 0.12 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1174394984 1q31.3 1 198692347G> A null G E 25 25 missense 1.0 probably damaging 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs752958303 1q31.3 1 198692349C> A null Q K 26 26 missense 0.009 benign 0.39 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs763020424 1q31.3 1 198692353G> T null S I 27 27 missense 0.018 benign 0.21 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs763020424 1q31.3 1 198692353G> A null S N 27 27 missense 0.0 benign 0.57 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs750318458 1q31.3 1 198692356C> T null P L 28 28 missense 0.038 benign 0.23 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs753850217 1q31.3 1 198696712G> A null G E 34 34 missense 0.828 possibly damaging 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs369827350 1q31.3 1 198696715T> C null L S 35 35 missense 0.017 benign 0.82 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1471347474 1q31.3 1 198696733C> T null P L 41 41 missense 0.169 benign 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1159457079 1q31.3 1 198696736G> C null S T 42 42 missense 0.862 possibly damaging 0.28 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs765181971 1q31.3 1 198696739T> C null V A 43 43 missense 0.009 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs149488488 1q31.3 1 198696750A> G null S G 47 47 missense 0.007 benign 0.36 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1271131973 1q31.3 1 198696755C> A null D E 48 48 missense 0.721 possibly damaging 0.14 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs746480752 1q31.3 1 198696756C> T null P S 49 49 missense 0.873 possibly damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs746480752 1q31.3 1 198696756C> A null P T 49 49 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1279852502 1q31.3 1 198696763C> T null P L 51 51 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs746435286 1q31.3 1 198696762C> T null P S 51 51 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114764326 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q31.3 1 198696765A> G null T A 52 52 0.002396 missense 0.03 benign 1.0 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000640075 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs951948469 1q31.3 1 198696768C> G null H D 53 53 missense 0.373 benign 0.24 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs775839710 1q31.3 1 198696771A> G null T A 54 54 missense 0.524 possibly damaging 0.1 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1203601910 1q31.3 1 198696772C> A null T N 54 54 missense 0.845 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1203601910 1q31.3 1 198696772C> G null T S 54 54 missense 0.137 benign 0.27 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1490524921 1q31.3 1 198696777G> T null A S 56 56 missense 0.619 possibly damaging 0.18 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1558004428 1q31.3 1 198696790C> G null A G 60 60 missense 0.721 possibly damaging 0.05 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs774680729 1q31.3 1 198696789G> A null A T 60 60 missense 0.119 benign 0.36 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs767699746 1q31.3 1 198696796C> T null T I 62 62 missense 0.0 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs776696394 1q31.3 1 198696807G> A null E K 66 66 missense 0.738 possibly damaging 0.18 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs899966685 1q31.3 1 198696814A> G null D G 68 68 missense 0.001 benign 0.51 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1461308177 1q31.3 1 198696813G> C null D H 68 68 missense 0.541 possibly damaging 0.11 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs765055683 1q31.3 1 198696831A> G null T A 74 74 missense 0.0 benign 0.19 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs758264225 1q31.3 1 198696835C> T null S F 75 75 missense 0.518 possibly damaging 0.04 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs975885112 1q31.3 1 198696837C> G null L V 76 76 missense 0.037 benign 0.66 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs751293994 1q31.3 1 198696842T> A null S R 77 77 missense 0.012 benign 0.08 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs866558681 1q31.3 1 198696844C> T null P L 78 78 missense 0.578 possibly damaging 0.04 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1364776797 1q31.3 1 198696843C> A null P T 78 78 missense 0.077 benign 0.05 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1329360713 cosmic curated [Cosmic]: prostate cosmic_study:435 1q31.3 1 198696853C> T null T I 81 81 missense 0.079 benign 0.11 tolerated 1 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs868710420 1q31.3 1 198696856C> T null S F 82 82 missense 0.219 benign 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs375051221 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 198696859C> T null T I 83 83 2.0E-4 missense 0.113 benign 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs149798940 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q31.3 1 198696871C> T null P L 87 87 2.0E-4 missense 0.0 benign 0.45 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000695229 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,gnomAD rs536748539 1q31.3 1 198696874A> G null D G 88 88 2.0E-4 missense 0.001 benign 0.21 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs748460083 1q31.3 1 198696877C> T null S F 89 89 missense 0.466 possibly damaging 0.08 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs771987218 1q31.3 1 198696881G> T null L F 90 90 missense 0.001 benign 0.3 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1250308154 1q31.3 1 198696880T> G null L W 90 90 missense 0.007 benign 0.17 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1212958184 1q31.3 1 198696884T> A null D E 91 91 missense 0.007 benign 0.2 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1251140498 1q31.3 1 198696882G> A null D N 91 91 missense 0.003 benign 0.14 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs61757804 1q31.3 1 198696885A> G null N D 92 92 missense 0.045 benign 0.13 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1244631323 1q31.3 1 198696888G> A null A T 93 93 missense 0.01 benign 0.49 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs759505457 1q31.3 1 198696892G> A null S N 94 94 missense 0.001 benign 0.6 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs759505457 1q31.3 1 198696892G> C null S T 94 94 missense 0.003 benign 0.27 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1003948419 1q31.3 1 198696894G> C null A P 95 95 missense 0.548 possibly damaging 0.02 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1323165536 1q31.3 1 198696903A> G null T A 98 98 missense 0.001 benign 0.55 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs762651341 1q31.3 1 198696906A> G null T A 99 99 missense 0.138 benign 0.22 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1178335552 1q31.3 1 198699572T> A null S T 103 103 missense 0.015 benign 0.77 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs988779141 1q31.3 1 198699575G> A null V I 104 104 missense 0.037 benign 0.08 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1394814934 1q31.3 1 198699578C> G null Q E 105 105 missense 0.014 benign 0.93 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs772369890 1q31.3 1 198699579A> T null Q L 105 105 missense 0.0 benign 0.37 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs772369890 1q31.3 1 198699579A> G null Q R 105 105 missense 0.015 benign 0.62 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs777950017 1q31.3 1 198699588A> C null H P 108 108 missense 0.021 benign 0.26 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,NCI-TCGA,gnomAD rs747055380 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 198699597C> A null T K 111 111 missense 0.978 probably damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs747055380 1q31.3 1 198699597C> G null T R 111 111 missense 0.985 probably damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,dbSNP,gnomAD rs201751375 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q31.3 1 198699602G> T null A S 113 113 missense 0.321 benign 0.13 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000809902 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1339113484 1q31.3 1 198699603C> T null A V 113 113 missense 0.469 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1384831062 1q31.3 1 198699608T> A null S T 115 115 missense 0.907 possibly damaging 0.44 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs768271323 1q31.3 1 198699611C> G null Q E 116 116 missense 0.787 possibly damaging 0.04 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs202180702 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q31.3 1 198699612A> C null Q P 116 116 3.99E-4 missense 0.963 probably damaging 0.06 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000796349 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1253903025 1q31.3 1 198699615C> T null T M 117 117 missense 0.759 possibly damaging 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl,dbSNP rs1553237882 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q31.3 1 198699617C> A null P T 118 118 missense 0.829 possibly damaging 0.1 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000640055 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs767130769 1q31.3 1 198699624C> T null A V 120 120 missense 0.115 benign 0.2 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1266308410 1q31.3 1 198699633A> G null D G 123 123 missense 0.081 benign 0.08 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41269905 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q31.3 1 198699632G> C null D H 123 123 0.00599 missense 0.956 probably damaging 0.02 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000555361 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs765927930 1q31.3 1 198699636C> G null T R 124 124 missense 0.841 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs370907315 1q31.3 1 198699639A> G null Q R 125 125 missense 0.438 benign 0.09 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,dbSNP,gnomAD rs753127621 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q31.3 1 198699642C> T null T I 126 126 missense 0.66 possibly damaging 0.0 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000813866 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs779106980 1q31.3 1 198699641A> C null T P 126 126 missense 0.726 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs779106980 1q31.3 1 198699641A> T null T S 126 126 missense 0.283 benign 0.05 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs778137179 1q31.3 1 198699645T> C null F S 127 127 missense 0.023 benign 0.39 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1367339525 1q31.3 1 198699651G> A null G D 129 129 missense 0.138 benign 0.15 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1295272657 1q31.3 1 198699654C> T null S F 130 130 missense 0.124 benign 0.04 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1284459301 1q31.3 1 198699653T> C null S P 130 130 missense 0.001 benign 0.28 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1345381608 1q31.3 1 198699656G> C null A P 131 131 missense 0.08 benign 0.09 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1217861244 1q31.3 1 198699659G> T null A S 132 132 missense 0.625 possibly damaging 0.43 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs747294735 1q31.3 1 198699662A> C null N H 133 133 missense 0.0 benign 0.29 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1318366185 1q31.3 1 198699663A> G null N S 133 133 missense 0.0 benign 0.8 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes rs201362674 1q31.3 1 198699672T> G null L R 136 136 2.0E-4 missense 0.01 benign 0.16 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs941109919 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q31.3 1 198699675A> G null N S 137 137 missense 0.0 benign 0.46 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1224015214 1q31.3 1 198699677C> G null P A 138 138 missense 0.092 benign 0.02 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs752408704 1q31.3 1 198699678C> T null P L 138 138 missense 0.038 benign 0.04 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1291923222 1q31.3 1 198699683C> G null P A 140 140 missense 0.219 benign 0.09 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1170608605 1q31.3 1 198699687G> A null G D 141 141 missense 0.029 benign 0.08 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs200531350 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q31.3 1 198699686G> C null G R 141 141 2.0E-4 missense 0.029 benign 0.12 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000818347 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1189264575 1q31.3 1 198699689A> G null S G 142 142 missense 0.0 benign 0.5 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs768665134 1q31.3 1 198699699T> A null I N 145 145 missense 0.015 benign 0.33 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1158616706 1q31.3 1 198699698A> G null I V 145 145 missense 0.0 benign 0.69 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1392608565 1q31.3 1 198699704G> C null D H 147 147 missense 0.533 possibly damaging 0.11 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs201052150 1q32.1 1 198703304A> G null Y C 149 149 2.0E-4 missense 0.339 benign 0.18 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs376744253 1q32.1 1 198703307T> G null L R 150 150 missense 0.391 benign 0.43 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369311409 1q32.1 1 198703310A> G null N S 151 151 0.001997 missense 0.0 benign 0.77 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1319085292 1q32.1 1 198703313C> T null A V 152 152 missense 0.077 benign 0.2 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP rs148271722 1q32.1 1 198703315T> G null S A 153 153 missense 0.001 benign 0.55 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs74536455 1q32.1 1 198703321A> C null T P 155 155 missense 0.003 benign 0.31 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1443356733 1q32.1 1 198703328C> T null T I 157 157 missense 0.154 benign 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs774982014 1q32.1 1 198703334G> C null S T 159 159 missense 0.069 benign 0.21 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,NCI-TCGA,TOPMed,gnomAD rs762236684 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198703336C> T null P S 160 160 missense 0.173 benign 0.13 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1476873676 1q32.1 1 198703346G> T null S I 163 163 missense 0.339 benign 0.04 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs200613730 1q32.1 1 198703348G> T null A S 164 164 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs200613730 1q32.1 1 198703348G> A null A T 164 164 2.0E-4 missense 0.0 benign 0.97 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs368551275 1q32.1 1 198703349C> T null A V 164 164 missense 0.006 benign 0.21 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs139323040 1q32.1 1 198703354A> G null I V 166 166 missense 0.031 benign 0.55 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148561683 1q32.1 1 198703360A> G null T A 168 168 0.001997 missense 0.071 benign 0.15 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148561683 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198703360A> C null T P 168 168 0.001997 missense 0.891 possibly damaging 0.09 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000640068 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs146065363 1q32.1 1 198703363A> G null T A 169 169 missense 0.003 benign 0.28 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1322727034 1q32.1 1 198703364C> T null T I 169 169 missense 0.074 benign 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1329107092 1q32.1 1 198703370T> C null I T 171 171 missense 0.0 benign 0.27 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1403116788 1q32.1 1 198704472C> G null A G 172 172 missense 0.197 benign 0.08 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs199882367 1q32.1 1 198704480C> A null P T 175 175 2.0E-4 missense 0.0 benign 0.46 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs746042319 1q32.1 1 198704489C> G null P A 178 178 missense 0.113 benign 0.1 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs746042319 1q32.1 1 198704489C> T null P S 178 178 missense 0.162 benign 0.1 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs746042319 1q32.1 1 198704489C> A null P T 178 178 missense 0.018 benign 0.17 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes rs569454871 1q32.1 1 198704493C> T null T I 179 179 2.0E-4 missense 0.277 benign 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1282201819 1q32.1 1 198706736G> A null E K 182 182 missense 0.017 benign 0.26 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1482460896 1q32.1 1 198706739A> G null K E 183 183 missense 0.659 possibly damaging 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl,dbSNP rs1553239146 1q32.1 1 198706740A> G null K R 183 183 missense 0.149 benign 0.08 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs535416574 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198706748A> G null N D 186 186 2.0E-4 missense 0.003 benign 0.33 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000699733 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs777341492 1q32.1 1 198706757G> A null V M 189 189 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs751970504 1q32.1 1 198706764A> T null Y F 191 191 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1487228485 1q32.1 1 198706766T> G null L V 192 192 missense 0.08 benign 0.58 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1027514462 1q32.1 1 198706769T> C null Y H 193 193 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1267788074 1q32.1 1 198706773A> G null N S 194 194 missense 0.446 possibly damaging 0.11 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1432861899 1q32.1 1 198706781A> G null T A 197 197 missense 0.023 benign 0.15 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC rs757784543 1q32.1 1 198706791T> C null F S 200 200 missense 0.455 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs781701825 1q32.1 1 198706797C> G null A G 202 202 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed rs372862661 1q32.1 1 198706802C> A null L I 204 204 missense 0.9 possibly damaging 0.05 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1365709950 1q32.1 1 198706808G> A null V I 206 206 missense 0.114 benign 0.36 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC rs770214288 1q32.1 1 198706811A> C null N H 207 207 missense 0.838 possibly damaging 0.12 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1158057562 1q32.1 1 198706812A> G null N S 207 207 missense 0.05 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,dbSNP,gnomAD rs780129489 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198706816G> C null E D 208 208 missense 0.012 benign 0.94 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000640065 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs780129489 1q32.1 1 198706816G> T null E D 208 208 missense 0.012 benign 0.94 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1378120301 1q32.1 1 198706821T> C null V A 210 210 missense 0.096 benign 0.21 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1407279022 1q32.1 1 198706820G> A null V M 210 210 missense 0.963 probably damaging 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs375453057 1q32.1 1 198706824A> G null E G 211 211 missense 0.167 benign 0.15 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs375453057 1q32.1 1 198706824A> T null E V 211 211 missense 0.124 benign 0.11 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1367301156 1q32.1 1 198706829G> A null G R 213 213 missense 0.116 benign 0.44 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs142941257 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198706830G> T null G V 213 213 2.0E-4 missense 0.079 benign 0.23 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000768296 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1298769494 1q32.1 1 198706839C> T null T I 216 216 missense 0.003 benign 0.23 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1157716262 1q32.1 1 198706845C> G null T R 218 218 missense 0.079 benign 0.49 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1461459776 1q32.1 1 198706849C> A null N K 219 219 missense 0.02 benign 0.62 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1553239175 1q32.1 1 198706850A> G null N D 220 220 missense 0.828 possibly damaging 0.18 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1284672802 1q32.1 1 198706860A> C null H P 223 223 missense 0.02 benign 0.25 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs770968074 1q32.1 1 198706864C> A null N K 224 224 missense 0.048 benign 0.17 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs760638253 1q32.1 1 198706863A> G null N S 224 224 missense 0.214 benign 0.14 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1474445832 1q32.1 1 198706865C> A null L I 225 225 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C dbSNP,gnomAD rs1189209220 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198706883G> A null A T 231 231 missense 0.03 benign 0.76 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000814706 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369888892 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198706884C> T null A V 231 231 missense 0.001 benign 0.64 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1558011361 1q32.1 1 198706889G> C null V L 233 233 missense 0.02 benign 0.05 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,dbSNP rs1240486262 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198706895A> G null I V 235 235 missense 0.039 benign 0.22 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000687956 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1178168643 1q32.1 1 198706903T> G null H Q 237 237 missense 0.485 possibly damaging 0.2 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs199673441 1q32.1 1 198706904A> G null N D 238 238 missense 0.026 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1427150638 1q32.1 1 198706913A> T null T S 241 241 missense 0.05 benign 0.81 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,NCI-TCGA,TOPMed,gnomAD rs762697900 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198706919C> T null P S 243 243 missense 0.941 probably damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs374439003 1q32.1 1 198706926A> C null K T 245 245 missense 0.104 benign 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs763464289 1q32.1 1 198706933A> C null L F 247 247 missense 0.078 benign 0.16 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2230606 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198706934A> C null I L 248 248 0.007588 missense 0.0 benign 0.25 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000556114 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs756803136 1q32.1 1 198706940G> C null D H 250 250 missense 0.003 benign 0.3 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs756803136 1q32.1 1 198706940G> A null D N 250 250 missense 0.094 benign 0.31 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs750990114 1q32.1 1 198706944T> C null V A 251 251 missense 0.221 benign 0.04 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1383621839 1q32.1 1 198706943G> A null V M 251 251 missense 0.687 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl,dbSNP rs1553239425 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198708148A> G null Q R 259 259 missense 0.081 benign 0.36 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000640058 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1279900525 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198708154A> T null H L 261 261 missense 0.0 benign 0.68 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1279900525 1q32.1 1 198708154A> G null H R 261 261 missense 0.0 benign 0.42 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,NCI-TCGA,gnomAD rs750858062 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198708156G> T null D Y 262 262 missense 0.931 probably damaging 0.04 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1408499004 1q32.1 1 198708168G> A null V I 266 266 missense 0.021 benign 0.15 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1309002581 1q32.1 1 198708171G> A null E K 267 267 missense 0.029 benign 0.26 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,dbSNP,gnomAD rs368910528 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198708193G> C null C S 274 274 missense 0.014 benign 0.1 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000806683 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1210926803 1q32.1 1 198708208A> C null N T 279 279 missense 0.0 benign 0.64 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41314039 1q32.1 1 198708210A> T null I F 280 280 3.99E-4 missense 0.127 benign 0.06 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41314039 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198708210A> G null I V 280 280 3.99E-4 missense 0.003 benign 0.29 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000640052 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs2274367 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198708213G> A null E K 281 281 3.99E-4 missense 0.0 benign 0.83 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000640064 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1196444628 1q32.1 1 198708214A> T null E V 281 281 missense 0.005 benign 0.2 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs747546238 1q32.1 1 198708216A> C null T P 282 282 missense 0.081 benign 0.21 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs748441143 1q32.1 1 198708219T> C null F L 283 283 missense 0.4 benign 0.14 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,dbSNP,gnomAD rs148025707 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198708223C> T null T I 284 284 missense 0.149 benign 0.13 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000688357 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl,dbSNP rs1558012466 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198708231A> G null T A 287 287 missense 0.009 benign 0.52 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000691500 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1367893170 1q32.1 1 198708233_198708234insAAATATTGAAACCTTTACTTGTGATAC A null Q K 288 288 stop gained 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs778005183 1q32.1 1 198708239T> G null N K 289 289 missense 0.0 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1466660990 1q32.1 1 198708240A> G null I V 290 290 missense 0.214 benign 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs745750519 1q32.1 1 198708243A> G null T A 291 291 missense 0.255 benign 0.19 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1196757044 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198708250G> T null R I 293 293 missense 0.158 benign 0.19 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1432514984 1q32.1 1 198708252T> G null F V 294 294 missense 0.226 benign 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs775327712 1q32.1 1 198708255C> G null Q E 295 295 missense 0.007 benign 0.26 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs768391663 1q32.1 1 198708258T> G null C G 296 296 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs866816038 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198709694G> A null M I 299 299 missense 0.0 benign 0.32 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs753089742 1q32.1 1 198709692A> G null M V 299 299 missense 0.0 benign 0.45 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs763450807 1q32.1 1 198709695A> T null I L 300 300 missense 0.0 benign 0.19 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs79141749 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198709705A> G null N S 303 303 0.01358 missense 0.0 benign 0.82 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000559618 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1405744947 1q32.1 1 198709708A> C null K T 304 304 missense 0.035 benign 0.2 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs867776290 1q32.1 1 198709711A> C null E A 305 305 missense 0.014 benign 0.55 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl,dbSNP rs1558013560 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198709715T> G null I M 306 306 missense 0.184 benign 0.06 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000703414 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,dbSNP rs751785635 1q32.1 1 198709728C> G null L V 311 311 missense 0.424 benign 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs917430300 1q32.1 1 198709737G> A null E K 314 314 missense 0.0 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1289810255 1q32.1 1 198709742T> G null H Q 315 315 missense 0.001 benign 0.69 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs781133917 1q32.1 1 198709743G> A null E K 316 316 missense 0.003 benign 0.56 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs999211601 1q32.1 1 198709764A> G null I V 323 323 missense 0.007 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs771923388 1q32.1 1 198709771A> G null Y C 325 325 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1428550336 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198709770T> C null Y H 325 325 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,gnomAD rs536162712 1q32.1 1 198709774A> G null N S 326 326 2.0E-4 missense 0.328 benign 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1466911164 1q32.1 1 198709780A> G null H R 328 328 missense 0.0 benign 0.29 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1200104864 1q32.1 1 198709789C> A null T N 331 331 missense 0.127 benign 0.18 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,NCI-TCGA,TOPMed,gnomAD rs776036789 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198709794G> A null A T 333 333 missense 0.0 benign 0.46 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1039401360 1q32.1 1 198709798G> A null S N 334 334 missense 0.0 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1370135148 1q32.1 1 198709801A> C null K T 335 335 missense 0.051 benign 0.15 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1473079919 1q32.1 1 198709807T> C null I T 337 337 missense 0.859 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1345142310 1q32.1 1 198712959G> T null G V 345 345 missense 0.511 possibly damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs749814938 1q32.1 1 198712961G> A null E K 346 346 missense 0.006 benign 0.98 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,dbSNP,gnomAD rs775095087 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198712970A> T null I F 349 349 missense 0.001 benign 0.11 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000819642 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145357582 1q32.1 1 198712974T> C null I T 350 350 3.99E-4 missense 0.124 benign 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,gnomAD rs200107066 1q32.1 1 198712982A> G null R G 353 353 2.0E-4 missense 0.001 benign 0.45 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1444834078 1q32.1 1 198712988G> A null E K 355 355 missense 0.003 benign 0.9 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs773554356 1q32.1 1 198712995C> T null A V 357 357 missense 0.446 possibly damaging 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs760733209 1q32.1 1 198713002A> C null Q H 359 359 missense 0.571 possibly damaging 0.1 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs969521925 1q32.1 1 198713004G> C null G A 360 360 missense 0.125 benign 0.79 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,gnomAD rs370664534 1q32.1 1 198713025C> T null P L 367 367 missense 0.998 probably damaging 0.05 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs868480883 1q32.1 1 198713029A> C null Q H 368 368 missense 0.006 benign 0.17 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs752565895 1q32.1 1 198713027C> A null Q K 368 368 missense 0.011 benign 0.78 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1363071799 1q32.1 1 198713033T> C null S P 370 370 missense 0.461 possibly damaging 0.21 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,gnomAD rs568942553 1q32.1 1 198713044T> A null N K 373 373 2.0E-4 missense 0.005 benign 0.29 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs6696162 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198713049C> T null T I 375 375 0.005791 missense 0.023 benign 0.41 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000535842 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs142046206 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198713051C> T null L F 376 376 missense 0.142 benign 0.25 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs757143414 1q32.1 1 198713058A> G null Y C 378 378 missense 0.238 benign 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs780692784 1q32.1 1 198713060A> G null I V 379 379 missense 0.001 benign 0.41 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs755614890 1q32.1 1 198713067A> C null E A 381 381 missense 0.003 benign 0.77 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs745527713 1q32.1 1 198713066G> C null E Q 381 381 missense 0.079 benign 0.54 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1277551838 1q32.1 1 198713070C> T null T I 382 382 missense 0.124 benign 0.16 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,dbSNP,gnomAD rs140403368 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198716687G> A null D N 385 385 missense 0.0 benign 0.64 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000547900 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,gnomAD rs536124035 1q32.1 1 198716688A> T null D V 385 385 2.0E-4 missense 0.0 benign 0.3 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1440434993 1q32.1 1 198716693C> T null L F 387 387 missense 0.006 benign 0.71 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1176620686 1q32.1 1 198716694T> A null L H 387 387 missense 0.667 possibly damaging 0.56 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1406436986 1q32.1 1 198716696A> G null N D 388 388 missense 0.01 benign 0.76 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,gnomAD rs372250925 1q32.1 1 198716699C> A null L M 389 389 missense 0.909 probably damaging 0.04 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs772260882 1q32.1 1 198716704T> G null D E 390 390 missense 0.003 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,dbSNP,gnomAD rs375608198 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198716711C> A null L M 393 393 missense 0.259 benign 0.11 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000705389 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1323507987 1q32.1 1 198716716C> G null I M 394 394 missense 0.325 benign 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1235335248 1q32.1 1 198716715T> G null I S 394 394 missense 0.003 benign 0.22 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1235335248 1q32.1 1 198716715T> C null I T 394 394 missense 0.0 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,NCI-TCGA,TOPMed,gnomAD rs771120252 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198716748C> T null T M 405 405 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C dbSNP,gnomAD rs1297093496 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198716747A> T null T S 405 405 missense 0.562 possibly damaging 0.04 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000695312 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs759520877 1q32.1 1 198716751A> T null K I 406 406 missense 0.328 benign 0.14 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1389355995 1q32.1 1 198716761A> T null L F 409 409 missense 0.566 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs774087579 1q32.1 1 198716763C> T null S L 410 410 missense 0.893 possibly damaging 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1173999476 1q32.1 1 198716762T> A null S T 410 410 missense 0.317 benign 0.28 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs150366095 1q32.1 1 198716769A> G null H R 412 412 missense 0.003 benign 0.46 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1458336940 1q32.1 1 198716777A> G null I V 415 415 missense 0.001 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,dbSNP,gnomAD rs899389630 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198716781T> C null I T 416 416 missense 0.0 benign 0.41 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000804558 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1014891412 1q32.1 1 198716780A> G null I V 416 416 missense 0.0 benign 0.51 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1484547355 1q32.1 1 198716789G> A null V M 419 419 missense 0.878 possibly damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1417710516 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198716795C> T null R C 421 421 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1348367829 1q32.1 1 198716796G> A null R H 421 421 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1274421382 1q32.1 1 198716805G> A null S N 424 424 missense 0.019 benign 0.63 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,TOPMed rs148702806 1q32.1 1 198716806T> A null S R 424 424 missense 0.001 benign 0.34 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1558018509 1q32.1 1 198716811C> A null A E 426 426 missense 0.003 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1173201390 1q32.1 1 198716810G> T null A S 426 426 missense 0.012 benign 0.67 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1173201390 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198716810G> A null A T 426 426 missense 0.034 benign 0.55 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs995052397 1q32.1 1 198716814T> G null M R 427 427 missense 0.0 benign 0.5 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs750217413 1q32.1 1 198716817G> A null C Y 428 428 missense 0.035 benign 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1410179985 1q32.1 1 198716829C> G null T S 432 432 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61749266 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198716831A> G null K E 433 433 5.99E-4 missense 0.005 benign 0.64 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000697731 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1029540128 1q32.1 1 198716832A> G null K R 433 433 missense 0.197 benign 0.17 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,gnomAD rs371081329 1q32.1 1 198716834A> T null S C 434 434 missense 0.848 possibly damaging 0.06 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs762144487 1q32.1 1 198716840C> T null P S 436 436 missense 0.003 benign 0.7 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C dbSNP,gnomAD rs1432775291 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198718099A> G null S G 438 438 missense 0.019 benign 0.28 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000528586 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs759266994 1q32.1 1 198718100G> A null S N 438 438 missense 0.598 possibly damaging 0.07 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,dbSNP,gnomAD rs200407298 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198718101C> G null S R 438 438 missense 0.857 possibly damaging 0.01 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000795558 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs757887582 1q32.1 1 198718116G> T null M I 443 443 missense 0.065 benign 0.16 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs910573647 1q32.1 1 198718114A> T null M L 443 443 missense 0.003 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,dbSNP,gnomAD rs910573647 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198718114A> C null M L 443 443 missense 0.003 benign 1.0 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000640056 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs545961977 1q32.1 1 198718120G> A null V I 445 445 missense 0.007 benign 0.32 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs757549269 1q32.1 1 198718123T> A null S T 446 446 missense 0.223 benign 0.91 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1175166766 1q32.1 1 198718126A> G null M V 447 447 missense 0.005 benign 0.54 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs555467190 1q32.1 1 198718137T> A null D E 450 450 missense 0.077 benign 0.18 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1457312106 1q32.1 1 198718136A> G null D G 450 450 missense 0.845 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs756334751 1q32.1 1 198718141A> C null S R 452 452 missense 0.542 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1478796698 1q32.1 1 198718148A> G null H R 454 454 missense 0.0 benign 0.55 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs200974882 1q32.1 1 198718147C> T null H Y 454 454 missense 0.047 benign 0.18 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1193789799 1q32.1 1 198718150G> T null V F 455 455 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1193789799 1q32.1 1 198718150G> A null V I 455 455 missense 0.866 possibly damaging 0.09 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1188651375 1q32.1 1 198718160G> A null R K 458 458 missense 0.003 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1188651375 1q32.1 1 198718160G> T null R M 458 458 missense 0.704 possibly damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs867897766 1q32.1 1 198718163C> T null P L 459 459 missense 0.102 benign 0.17 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs780174638 1q32.1 1 198718168A> G null R G 461 461 missense 0.071 benign 0.35 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs749379347 1q32.1 1 198718169G> A null R K 461 461 missense 0.003 benign 0.93 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs768919403 1q32.1 1 198718170G> C null R S 461 461 missense 0.012 benign 0.72 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1315889906 1q32.1 1 198718172A> G null D G 462 462 missense 0.326 benign 0.09 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs773229991 1q32.1 1 198718171G> A null D N 462 462 missense 0.06 benign 0.52 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs746951007 1q32.1 1 198718174C> T null R C 463 463 missense 0.627 possibly damaging 0.17 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs770812820 1q32.1 1 198718175G> A null R H 463 463 missense 0.451 possibly damaging 0.52 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs776508151 1q32.1 1 198718178A> G null N S 464 464 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1368901568 1q32.1 1 198718184C> T null P L 466 466 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs759300201 1q32.1 1 198718190A> G null E G 468 468 missense 0.0 benign 0.45 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs764913234 1q32.1 1 198718193G> A null R H 469 469 missense 0.013 benign 0.49 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs764913234 1q32.1 1 198718193G> T null R L 469 469 missense 0.009 benign 0.72 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,dbSNP,gnomAD rs1203819767 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198718199A> G null H R 471 471 missense 0.009 benign 0.34 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000701442 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs762391496 1q32.1 1 198718208T> C null V A 474 474 missense 0.326 benign 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116464756 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198718211A> T null E V 475 475 0.002995 missense 0.062 benign 0.08 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000640083 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs904577980 1q32.1 1 198718216G> A null G R 477 477 missense 0.961 probably damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1380213873 1q32.1 1 198718220A> C null N T 478 478 missense 0.026 benign 0.32 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1435298808 1q32.1 1 198718223C> T null T I 479 479 missense 0.144 benign 0.11 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1213903585 1q32.1 1 198718222A> T null T S 479 479 missense 0.006 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1399514174 1q32.1 1 198718228G> T null V F 481 481 missense 0.026 benign 0.35 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1399514174 1q32.1 1 198718228G> C null V L 481 481 missense 0.372 benign 0.1 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,dbSNP,gnomAD rs757782403 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198718234A> C null N H 483 483 missense 0.259 benign 0.14 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000804482 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1333928530 1q32.1 1 198718241C> T null S L 485 485 missense 0.036 benign 0.12 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs892297670 1q32.1 1 198718240T> A null S T 485 485 missense 0.101 benign 0.4 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs756498746 1q32.1 1 198718243C> T null H Y 486 486 missense 0.047 benign 0.08 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,NCI-TCGA,gnomAD rs780306635 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198718246A> G null K E 487 487 missense 0.014 benign 0.56 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1283847750 1q32.1 1 198718247A> G null K R 487 487 missense 0.284 benign 0.34 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1046297823 1q32.1 1 198718249A> C null N H 488 488 missense 0.053 benign 0.11 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144856406 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198718255G> A null D N 490 490 5.99E-4 missense 0.028 benign 0.53 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144856406 1q32.1 1 198718255G> T null D Y 490 490 5.99E-4 missense 0.587 possibly damaging 0.42 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP rs373995444 1q32.1 1 198718261C> T null R C 492 492 missense 0.717 possibly damaging 0.18 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140422357 1q32.1 1 198718262G> A null R H 492 492 2.0E-4 missense 0.005 benign 0.55 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1446430507 1q32.1 1 198718264G> A null V I 493 493 missense 0.304 benign 0.05 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,dbSNP,gnomAD rs398122383 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive pubmed:22689986 1q32.1 1 198718267A> T null K * 494 494 stop gained 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000054517 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs398122383 1q32.1 1 198718267A> G null K E 494 494 missense 0.01 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1237473864 1q32.1 1 198718269A> C null K N 494 494 missense 0.013 benign 0.23 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs776473656 1q32.1 1 198718272T> A null D E 495 495 missense 0.595 possibly damaging 0.05 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs961295368 1q32.1 1 198718277A> G null Q R 497 497 missense 0.166 benign 0.28 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,dbSNP,gnomAD rs145467564 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198718285A> G null T A 500 500 missense 0.999 probably damaging 0.0 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000800993 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs141736078 1q32.1 1 198718295C> T null T I 503 503 2.0E-4 missense 0.062 benign 0.12 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs141736078 1q32.1 1 198718295C> A null T N 503 503 2.0E-4 missense 0.012 benign 0.39 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs973848863 1q32.1 1 198718294A> C null T P 503 503 missense 0.653 possibly damaging 0.14 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs141736078 1q32.1 1 198718295C> G null T S 503 503 2.0E-4 missense 0.035 benign 0.35 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1187048060 1q32.1 1 198722416G> T null A S 506 506 missense 0.003 benign 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs111324714 1q32.1 1 198722419T> C null Y H 507 507 missense 0.759 possibly damaging 0.08 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1553241686 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198722425C> T null H Y 509 509 missense 0.001 benign 0.58 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,dbSNP,gnomAD rs760244730 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198722434G> A null D N 512 512 missense 0.001 benign 0.4 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000803601 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs749130052 1q32.1 1 198722441C> G null P R 514 514 missense 0.003 benign 0.57 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs774053060 1q32.1 1 198722448A> T null E D 516 516 missense 0.0 benign 0.62 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs761297445 1q32.1 1 198722450C> A null P H 517 517 missense 0.759 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1233081842 1q32.1 1 198722456T> G null I S 519 519 missense 0.0 benign 0.92 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1342798273 1q32.1 1 198722462A> G null H R 521 521 missense 0.017 benign 0.33 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs141099643 1q32.1 1 198722461C> T null H Y 521 521 missense 0.017 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12136658 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198722466T> A null H Q 522 522 0.005591 missense 0.0 benign 0.96 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000536624 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1224679877 1q32.1 1 198722470A> G null T A 524 524 missense 0.687 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,dbSNP,gnomAD rs376098272 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198728340A> G null Y C 526 526 missense 0.966 probably damaging 0.0 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000811420 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1232880849 1q32.1 1 198728345T> C null S P 528 528 missense 0.836 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1301167651 1q32.1 1 198728351G> T null A S 530 530 missense 0.927 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs771574542 1q32.1 1 198728352C> T null A V 530 530 missense 0.45 possibly damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs771312617 1q32.1 1 198728358T> G null I R 532 532 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1253545148 1q32.1 1 198728357A> G null I V 532 532 missense 0.912 probably damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1191758134 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198728370C> T null A V 536 536 missense 0.001 benign 1.0 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1558026203 1q32.1 1 198728372T> C null F L 537 537 missense 0.32 benign 0.05 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs759967913 1q32.1 1 198728385T> A null V E 541 541 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1317350264 1q32.1 1 198728387A> G null T A 542 542 missense 0.844 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs775814368 1q32.1 1 198728391C> T null S L 543 543 missense 0.792 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs763104128 1q32.1 1 198728394T> A null I K 544 544 missense 0.873 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1056876972 1q32.1 1 198728395A> G null I M 544 544 missense 0.872 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs763104128 1q32.1 1 198728394T> C null I T 544 544 missense 0.821 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1459728691 1q32.1 1 198728393A> G null I V 544 544 missense 0.088 benign 0.13 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs894658611 1q32.1 1 198728397C> T null A V 545 545 missense 0.598 possibly damaging 0.02 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs751560682 1q32.1 1 198728402C> T null L F 547 547 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs559763513 1q32.1 1 198728406T> C null V A 548 548 missense 0.284 benign 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs150416673 1q32.1 1 198728405G> T null V F 548 548 missense 0.012 benign 0.12 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs150416673 1q32.1 1 198728405G> C null V L 548 548 missense 0.02 benign 0.02 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs913617703 1q32.1 1 198728415A> G null Y C 551 551 missense 0.762 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,gnomAD rs370560920 1q32.1 1 198728424A> G null Y C 554 554 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs111414217 1q32.1 1 198728423T> C null Y H 554 554 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs754699279 1q32.1 1 198728427A> G null D G 555 555 missense 0.558 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,TOPMed rs200838498 1q32.1 1 198728426G> A null D N 555 555 2.0E-4 missense 0.062 benign 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs778714061 1q32.1 1 198728432C> A null H N 557 557 missense 0.094 benign 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1314941487 1q32.1 1 198728433A> C null H P 557 557 missense 0.703 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1314941487 1q32.1 1 198728433A> G null H R 557 557 missense 0.013 benign 0.35 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1417282394 1q32.1 1 198729141T> G null L V 564 564 missense 0.564 possibly damaging 0.02 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs754933499 1q32.1 1 198729147G> A null E K 566 566 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1055527772 1q32.1 1 198729150C> T null Q * 567 567 stop gained 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1257220764 1q32.1 1 198729163T> C null V A 571 571 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,dbSNP,gnomAD rs762123424 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198731617A> G null D G 574 574 missense 0.992 probably damaging 0.0 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000807029 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs143761683 1q32.1 1 198731619G> A null D N 575 575 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1263008575 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198731622G> A null E K 576 576 missense 0.896 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs773256126 1q32.1 1 198731628C> A null Q K 578 578 missense 0.413 benign 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs760788576 1q32.1 1 198731634A> C null M L 580 580 missense 0.006 benign 0.02 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs760788576 1q32.1 1 198731634A> G null M V 580 580 missense 0.005 benign 0.02 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1455154652 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198731640G> A null V M 582 582 missense 0.902 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1486244862 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198731643G> A null E K 583 583 missense 0.81 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1174214848 1q32.1 1 198731646C> T null P S 584 584 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1461988340 1q32.1 1 198731656C> A null A E 587 587 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,TOPMed,gnomAD rs147240717 1q32.1 1 198731658G> A null D N 588 588 missense 0.893 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs997103605 1q32.1 1 198731666G> C null L F 590 590 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,gnomAD rs188500261 1q32.1 1 198731681G> C null K N 595 595 3.99E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1262750110 1q32.1 1 198731684G> T null R S 596 596 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1287241431 1q32.1 1 198731686A> G null K R 597 597 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs781031345 1q32.1 1 198731689T> C null I T 598 598 missense 0.909 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1467438457 1q32.1 1 198731694G> C null D H 600 600 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs755739844 1q32.1 1 198731699A> C null E D 601 601 missense 0.645 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs780363618 1q32.1 1 198731710T> G null F C 605 605 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs868698846 1q32.1 1 198731715G> C null A P 607 607 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs868698846 1q32.1 1 198731715G> A null A T 607 607 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl,NCI-TCGA rs724159905 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q32.1 1 198731724C> T null Q * 610 610 stop gained 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs955667806 1q32.1 1 198732301G> A null S N 611 611 missense 0.841 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs755490983 1q32.1 1 198732307C> T null P L 613 613 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs755490983 1q32.1 1 198732307C> A null P Q 613 613 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1420379983 1q32.1 1 198732312G> T null V L 615 615 missense 0.503 possibly damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1462134158 1q32.1 1 198732318A> T null S C 617 617 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1164362432 1q32.1 1 198732320C> A null S R 617 617 missense 0.875 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs914273938 1q32.1 1 198732322A> G null K R 618 618 missense 0.681 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs932560948 1q32.1 1 198732325T> G null F C 619 619 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1388692001 1q32.1 1 198732326T> G null F L 619 619 missense 0.924 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs779332137 1q32.1 1 198732330A> C null I L 621 621 missense 0.648 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs779332137 1q32.1 1 198732330A> G null I V 621 621 missense 0.14 benign 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs748511747 1q32.1 1 198732343G> A null R Q 625 625 missense 0.502 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,gnomAD rs190742492 1q32.1 1 198732347G> T null K N 626 626 2.0E-4 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1558028673 1q32.1 1 198732348C> T null P S 627 627 missense 0.003 benign 0.66 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1237012473 1q32.1 1 198732353T> G null F L 628 628 missense 0.005 benign 0.08 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,dbSNP,gnomAD rs777914316 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198732359G> T null Q H 630 630 missense 0.987 probably damaging 0.0 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000796373 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs981861112 1q32.1 1 198732358A> G null Q R 630 630 missense 0.893 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs747237754 1q32.1 1 198732361A> C null N T 631 631 missense 0.97 probably damaging 0.02 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs866967402 1q32.1 1 198732368C> A null N K 633 633 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,NCI-TCGA,TOPMed,gnomAD rs770877340 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198732367A> G null N S 633 633 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl,dbSNP rs1553243145 NCI-TCGA Cosmic [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198732369C> T null R C 634 634 missense 1.0 probably damaging 0.0 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000698812 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl,dbSNP rs1553243145 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198732369C> G null R G 634 634 missense 1.0 probably damaging 0.0 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000640059 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1272096027 1q32.1 1 198732372T> C null Y H 635 635 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs147515054 1q32.1 1 198732375G> A null V I 636 636 missense 0.318 benign 0.04 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1437158895 1q32.1 1 198732385T> C null L P 639 639 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1558028738 1q32.1 1 198732390T> C null Y H 641 641 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1047743116 1q32.1 1 198732483A> G null D G 642 642 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1349086882 1q32.1 1 198732486A> G null Y C 643 643 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs781335157 1q32.1 1 198732492G> A null R H 645 645 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs781335157 1q32.1 1 198732492G> T null R L 645 645 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs745947898 1q32.1 1 198732494G> A null V I 646 646 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1003000820 1q32.1 1 198732500C> T null L F 648 648 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1003000820 1q32.1 1 198732500C> A null L I 648 648 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs769776749 1q32.1 1 198732503T> G null S A 649 649 missense 0.894 possibly damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs200818686 1q32.1 1 198732514C> A null N K 652 652 3.99E-4 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1448955102 1q32.1 1 198732515G> A null G R 653 653 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs372940886 1q32.1 1 198732518G> A null D N 654 654 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs772193588 1q32.1 1 198732522C> T null A V 655 655 missense 0.197 benign 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs771941224 1q32.1 1 198732527T> C null S P 657 657 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs771941224 1q32.1 1 198732527T> A null S T 657 657 missense 0.938 probably damaging 0.04 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs760430276 1q32.1 1 198732536A> T null I L 660 660 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs760430276 1q32.1 1 198732536A> G null I V 660 660 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs766053951 1q32.1 1 198732546G> A null S N 663 663 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs759033254 1q32.1 1 198732548T> C null Y H 664 664 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1399662158 1q32.1 1 198732553T> G null I M 665 665 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP rs148550226 1q32.1 1 198734203A> G null K R 669 669 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1239416943 1q32.1 1 198734217T> C null Y H 674 674 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs770650182 1q32.1 1 198734223G> T null A S 676 676 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs888138109 1q32.1 1 198734227C> T null A V 677 677 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1476365376 1q32.1 1 198734330C> T null P S 680 680 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1189671328 1q32.1 1 198734336G> T null D Y 682 682 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1413986135 1q32.1 1 198734342A> G null T A 684 684 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs770916216 1q32.1 1 198734346T> C null V A 685 685 missense 0.686 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs745727510 1q32.1 1 198734349A> G null D G 686 686 missense 0.809 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs745727510 1q32.1 1 198734349A> T null D V 686 686 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs201711547 1q32.1 1 198734352A> G null D G 687 687 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1558029970 1q32.1 1 198734351G> A null D N 687 687 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs201711547 1q32.1 1 198734352A> T null D V 687 687 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,dbSNP,gnomAD rs139089055 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198734356C> G null F L 688 688 missense 1.0 probably damaging 0.0 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000804078 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1416321590 1q32.1 1 198734371G> C null W C 693 693 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1186517033 1q32.1 1 198734372G> A null E K 694 694 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1011811934 1q32.1 1 198734387G> T null V F 699 699 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1464440498 1q32.1 1 198734400T> C null V A 703 703 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl rs1558030034 1q32.1 1 198734406G> C null R P 705 705 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1297770118 1q32.1 1 198734408T> C null C R 706 706 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs762248930 1q32.1 1 198734417G> A null G R 709 709 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1389586846 1q32.1 1 198735128A> G null N S 712 712 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs766855254 1q32.1 1 198735149C> T null P L 719 719 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs1318618552 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198735148C> T null P S 719 719 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs765547769 1q32.1 1 198735152C> T null S L 720 720 missense 0.99 probably damaging 0.06 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C Ensembl,dbSNP rs1558030527 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198735154A> G null M V 721 721 missense 0.007 benign 0.12 tolerated 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000698806 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,dbSNP,gnomAD rs752691679 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198735158A> G null E G 722 722 missense 0.964 probably damaging 0.0 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000816929 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs758572135 1q32.1 1 198735162G> C null E D 723 723 missense 0.059 benign 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs755859528 1q32.1 1 198735170G> T null R L 726 726 missense 0.267 benign 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs755859528 1q32.1 1 198735170G> A null R Q 726 726 missense 0.072 benign 0.12 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,dbSNP,gnomAD rs200672643 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198735169C> T null R W 726 726 missense 0.987 probably damaging 0.0 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000698219 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs754554765 1q32.1 1 198735179G> A null G E 729 729 missense 0.744 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ESP,ExAC,TOPMed,gnomAD rs146726593 1q32.1 1 198735184G> A null V I 731 731 missense 0.246 benign 0.11 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs747600609 1q32.1 1 198735190G> A null V I 733 733 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,TOPMed,gnomAD rs747600609 1q32.1 1 198735190G> T null V L 733 733 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs771626124 1q32.1 1 198735195G> C null K N 734 734 missense 0.986 probably damaging 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs773525497 1q32.1 1 198735196A> T null I F 735 735 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs773525497 1q32.1 1 198735196A> G null I V 735 735 missense 0.879 possibly damaging 0.18 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs1456885006 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198735200A> G null N S 736 736 missense 0.208 benign 0.17 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed,gnomAD rs984623613 1q32.1 1 198735202C> A null Q K 737 737 missense 0.074 benign 0.03 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs747550206 1q32.1 1 198735205C> G null H D 738 738 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs747550206 1q32.1 1 198735205C> T null H Y 738 738 missense 0.984 probably damaging 0.11 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs771377149 1q32.1 1 198735212G> T null R I 740 740 missense 0.113 benign 0.05 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs771377149 1q32.1 1 198735212G> C null R T 740 740 missense 0.919 probably damaging 0.05 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C gnomAD rs754874718 1q32.1 1 198735217C> A null P T 742 742 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,NCI-TCGA,TOPMed,gnomAD rs760021216 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198735221A> G null D G 743 743 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,NCI-TCGA,TOPMed,gnomAD rs765375367 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 198735224A> G null Y C 744 744 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs775791258 1q32.1 1 198735232C> G null Q E 747 747 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs185420520 [ClinVar]: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1q32.1 1 198735244A> T null I F 751 751 2.0E-4 missense 0.989 probably damaging 0.0 deleterious 0 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive MIM:608971 ClinVar:RCV000541951 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs185420520 1q32.1 1 198735244A> C null I L 751 751 2.0E-4 missense 0.469 possibly damaging 0.01 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C TOPMed rs1390027243 1q32.1 1 198735245T> C null I T 751 751 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C 1000Genomes,ExAC,TOPMed,gnomAD rs185420520 1q32.1 1 198735244A> G null I V 751 751 2.0E-4 missense 0.227 benign 0.28 tolerated 0 A0A075B788 PTPRC Receptor-type tyrosine-protein phosphatase C ExAC,gnomAD rs750307063 1q32.1 1 198735248T> G null V G 752 752 missense 0.012 benign 0.12 tolerated 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs775473704 19q13.33 19 50476193G> A null R W 3 3 missense 0.916 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,NCI-TCGA,gnomAD rs745613786 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50476187G> A null R C 5 5 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs994493082 19q13.33 19 50476181G> C null P A 7 7 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs994493082 19q13.33 19 50476181G> A null P S 7 7 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC rs771116720 19q13.33 19 50476176C> A null K N 8 8 missense 0.012 benign 0.07 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1357304319 19q13.33 19 50476175G> T null P T 9 9 missense 0.006 benign 0.3 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 Ensembl rs897511634 19q13.33 19 50476172C> A null A S 10 10 missense 0.058 benign 0.05 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ExAC,gnomAD rs201218672 19q13.33 19 50476171G> A null A V 10 10 2.0E-4 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs756326151 19q13.33 19 50476160C> T null A T 14 14 missense 0.899 possibly damaging 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1407816572 19q13.33 19 50476156C> T null G D 15 15 missense 0.861 possibly damaging 0.06 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ESP,ExAC,TOPMed,gnomAD rs369398924 19q13.33 19 50476151C> G null V L 17 17 missense 0.01 benign 0.09 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs781776003 19q13.33 19 50476144G> A null P L 19 19 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs781776003 19q13.33 19 50476144G> C null P R 19 19 missense 0.056 benign 0.05 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1218115910 19q13.33 19 50476145G> A null P S 19 19 missense 0.003 benign 0.09 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,TOPMed,gnomAD rs559536050 19q13.33 19 50476141C> G null G A 20 20 2.0E-4 missense 0.59 possibly damaging 0.05 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,TOPMed,gnomAD rs559536050 19q13.33 19 50476141C> A null G V 20 20 2.0E-4 missense 0.906 possibly damaging 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1382202972 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50476133C> T null A T 23 23 missense 0.017 benign 0.04 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1251232977 19q13.33 19 50476132G> A null A V 23 23 missense 0.165 benign 0.04 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1335997861 19q13.33 19 50476130C> T null A T 24 24 missense 0.68 possibly damaging 0.07 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs752136651 19q13.33 19 50475930G> A null S F 25 25 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1027224313 19q13.33 19 50475928G> C null P A 26 26 missense 0.013 benign 0.09 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs767026316 19q13.33 19 50475927G> A null P L 26 26 missense 0.332 benign 0.03 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 Ensembl rs7252730 19q13.33 19 50475925T> C null T A 27 27 missense 0.015 benign 0.12 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142826895 19q13.33 19 50475922C> T null G S 28 28 5.99E-4 missense 0.031 benign 0.04 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1228153946 19q13.33 19 50475918C> T null R H 29 29 missense 0.725 possibly damaging 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1228153946 19q13.33 19 50475918C> G null R P 29 29 missense 0.774 possibly damaging 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs762700468 19q13.33 19 50475912C> A null R I 31 31 missense 0.243 benign 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs770103810 19q13.33 19 50475903T> C null Q R 34 34 missense 0.225 benign 0.05 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs762135026 19q13.33 19 50475901G> A null R C 35 35 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1247495391 19q13.33 19 50475897T> C null Y C 36 36 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1364500696 19q13.33 19 50475892G> A null Q * 38 38 stop gained 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1303397179 19q13.33 19 50475890C> G null Q H 38 38 missense 0.263 benign 0.6 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs905781647 19q13.33 19 50475888C> T null S N 39 39 missense 0.708 possibly damaging 0.18 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs780467759 19q13.33 19 50475885C> T null G D 40 40 missense 0.906 possibly damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1361630129 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50475886C> T null G S 40 40 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs780467759 19q13.33 19 50475885C> A null G V 40 40 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1044755608 19q13.33 19 50475883C> A null E * 41 41 stop gained 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs779253896 19q13.33 19 50475881T> A null E D 41 41 missense 0.994 probably damaging 0.06 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs746170544 19q13.33 19 50475882T> C null E G 41 41 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1044755608 19q13.33 19 50475883C> T null E K 41 41 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 Ensembl rs890203296 19q13.33 19 50475873T> C null Q R 44 44 missense 0.844 possibly damaging 0.36 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1400932703 [NCI-TCGA]: Variant assessed as Somatic; impact. 19q13.33 19 50475867C> T null R Q 46 46 missense 0.923 probably damaging 0.07 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ESP,ExAC,TOPMed,gnomAD rs373034598 19q13.33 19 50475863G> T null D E 47 47 missense 0.941 probably damaging 0.08 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ESP,ExAC,TOPMed,gnomAD rs373034598 19q13.33 19 50475863G> C null D E 47 47 missense 0.941 probably damaging 0.08 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs780675076 19q13.33 19 50475859G> C null P A 49 49 missense 0.359 benign 0.05 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ExAC,TOPMed,gnomAD rs539277358 19q13.33 19 50475858G> A null P L 49 49 2.0E-4 missense 0.563 possibly damaging 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ExAC,TOPMed,gnomAD rs539277358 19q13.33 19 50475858G> C null P R 49 49 2.0E-4 missense 0.79 possibly damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1260265165 19q13.33 19 50475855A> G null I T 50 50 missense 0.725 possibly damaging 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 Ensembl rs781107094 19q13.33 19 50475851A> C null F L 51 51 missense 0.735 possibly damaging 0.13 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1339233726 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50475838C> T null V I 56 56 missense 0.249 benign 1.0 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117474888 19q13.33 19 50475835G> A null Q * 57 57 2.0E-4 stop gained 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs750180673 19q13.33 19 50475833C> G null Q H 57 57 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1383644848 19q13.33 19 50475455C> T null V M 58 58 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs753537896 19q13.33 19 50475448C> T null R Q 60 60 missense 0.951 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs895120268 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50475449G> A null R W 60 60 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1249611432 19q13.33 19 50475436A> G null V A 64 64 missense 0.994 probably damaging 0.05 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1196182677 19q13.33 19 50475430T> C null N S 66 66 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs753029642 19q13.33 19 50475428C> T null E K 67 67 missense 0.0 benign 0.76 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs753029642 19q13.33 19 50475428C> G null E Q 67 67 missense 0.046 benign 0.32 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1291414807 19q13.33 19 50475417C> A null M I 70 70 missense 0.391 benign 0.16 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1359608567 19q13.33 19 50475412A> G null V A 72 72 missense 0.915 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,NCI-TCGA,gnomAD rs759658220 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50475404A> G null S P 75 75 missense 0.976 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1435370863 19q13.33 19 50475401T> C null S G 76 76 missense 0.888 possibly damaging 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ExAC,gnomAD rs537093062 19q13.33 19 50475398G> C null P A 77 77 2.0E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1335525375 19q13.33 19 50475397G> T null P Q 77 77 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ExAC,gnomAD rs537093062 19q13.33 19 50475398G> T null P T 77 77 2.0E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1350797377 19q13.33 19 50475395C> T null A T 78 78 missense 0.619 possibly damaging 0.18 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1381323159 19q13.33 19 50475391A> T null L Q 79 79 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 Ensembl rs940243941 19q13.33 19 50475389C> A null E * 80 80 stop gained 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,NCI-TCGA,TOPMed,gnomAD rs763452397 [NCI-TCGA]: Variant assessed as Somatic; impact. 19q13.33 19 50475382G> A null P L 82 82 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1311747450 19q13.33 19 50475378G> C null D E 83 83 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 Ensembl rs987080557 19q13.33 19 50475380C> T null D N 83 83 missense 0.999 probably damaging 0.22 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1240768473 19q13.33 19 50475365C> T null A T 88 88 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1425371476 19q13.33 19 50475364G> A null A V 88 88 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs775252763 19q13.33 19 50475362C> T null G S 89 89 missense 0.97 probably damaging 0.14 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1266772076 19q13.33 19 50475353T> C null K E 92 92 missense 0.722 possibly damaging 0.18 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs771687579 19q13.33 19 50475345G> C null N K 94 94 missense 0.328 benign 0.03 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1363188252 19q13.33 19 50475346T> C null N S 94 94 missense 0.391 benign 0.04 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145879706 19q13.33 19 50475344C> T null G R 95 95 3.99E-4 missense 0.989 probably damaging 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs757196054 19q13.33 19 50475340T> G null H P 96 96 missense 0.187 benign 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs778599109 19q13.33 19 50475341G> A null H Y 96 96 missense 0.187 benign 0.06 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ESP,ExAC,TOPMed,gnomAD rs150269677 19q13.33 19 50475337A> G null L P 97 97 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ESP,ExAC,TOPMed,gnomAD rs150269677 19q13.33 19 50475337A> T null L Q 97 97 missense 0.59 possibly damaging 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1008082537 19q13.33 19 50475338G> C null L V 97 97 missense 0.933 probably damaging 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ExAC,TOPMed,gnomAD rs552107394 19q13.33 19 50475327G> T null F L 100 100 5.99E-4 missense 0.028 benign 0.1 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ESP,ExAC,TOPMed,gnomAD rs141064895 19q13.33 19 50475326C> T null G S 101 101 missense 0.955 probably damaging 0.09 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1364453499 19q13.33 19 50467731A> G null C R 102 102 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113780819 19q13.33 19 50467727C> T null G E 103 103 0.003395 missense 0.003 benign 0.93 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs919256556 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50467728C> T null G R 103 103 missense 0.003 benign 0.51 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs919256556 19q13.33 19 50467728C> G null G R 103 103 missense 0.003 benign 0.51 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1176918893 19q13.33 19 50467724G> A null P L 104 104 missense 0.96 probably damaging 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1478962016 19q13.33 19 50467725G> A null P S 104 104 missense 0.935 probably damaging 0.03 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs778376043 19q13.33 19 50467718G> T null S * 106 106 stop gained 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1171456740 19q13.33 19 50467716T> A null R * 107 107 missense 0 A0A075B789 FAM71E1 Protein FAM71E1 ESP,ExAC,TOPMed,gnomAD rs144650795 19q13.33 19 50467713G> A null P S 108 108 missense 0.0 unknown 0.24 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ESP,ExAC,TOPMed,gnomAD rs149322102 19q13.33 19 50467710C> T null E K 109 109 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ESP,ExAC,TOPMed,gnomAD rs149322102 19q13.33 19 50467710C> G null E Q 109 109 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ESP,ExAC,TOPMed,gnomAD rs369945016 19q13.33 19 50467706G> T null T N 110 110 missense 0.0 unknown 0.1 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs764776877 19q13.33 19 50467703T> C null E G 111 111 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ExAC,NCI-TCGA,gnomAD rs538944264 [NCI-TCGA]: Variant assessed as Somatic; impact. 19q13.33 19 50467704C> T null E K 111 111 2.0E-4 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs761365225 19q13.33 19 50467697G> A null S L 113 113 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1293565671 19q13.33 19 50467691C> A null S I 115 115 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs775298572 19q13.33 19 50467683C> T null G S 118 118 missense 0.0 unknown 0.1 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs771821826 19q13.33 19 50467679C> A null C F 119 119 missense 0.0 unknown 0.32 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs372151061 19q13.33 19 50467678G> C null C W 119 119 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 Ensembl rs957021882 19q13.33 19 50467677A> T null S T 120 120 missense 0.0 unknown 0.05 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 Ensembl rs200604361 19q13.33 19 50467674T> G null T P 121 121 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1480208317 19q13.33 19 50467671C> T null A T 122 122 missense 0.0 unknown 0.1 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs771206794 19q13.33 19 50467670G> A null A V 122 122 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1484966780 19q13.33 19 50467666G> C null C W 123 123 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs749340552 19q13.33 19 50467665C> T null A T 124 124 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1189096592 19q13.33 19 50467664G> A null A V 124 124 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1208071703 19q13.33 19 50467661G> A null S F 125 125 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs748719448 19q13.33 19 50467643C> G null C S 131 131 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs371981693 19q13.33 19 50467640G> A null P L 132 132 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs371981693 19q13.33 19 50467640G> C null P R 132 132 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs755340902 19q13.33 19 50467635G> A null R C 134 134 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs750070917 19q13.33 19 50467634C> T null R H 134 134 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs750070917 19q13.33 19 50467634C> G null R P 134 134 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs755340902 19q13.33 19 50467635G> T null R S 134 134 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,TOPMed,gnomAD rs756938357 19q13.33 19 50467630C> G null R S 135 135 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 ExAC,gnomAD rs778385154 19q13.33 19 50467631C> G null R T 135 135 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1174644829 19q13.33 19 50467629T> A null S C 136 136 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1174644829 19q13.33 19 50467629T> C null S G 136 136 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1302283280 19q13.33 19 50466947G> A null A V 141 141 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1448968043 19q13.33 19 50466939G> C null P A 144 144 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 Ensembl rs996203837 19q13.33 19 50466936C> G null D H 145 145 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1448861475 19q13.33 19 50466929G> A null T I 147 147 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 1000Genomes,ExAC,TOPMed,gnomAD rs75356685 19q13.33 19 50466913G> C null N K 152 152 0.001398 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1312412320 19q13.33 19 50466909C> T null G R 154 154 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs757460683 19q13.33 19 50466905T> C null D G 155 155 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1053953477 19q13.33 19 50466906C> A null D Y 155 155 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1321999905 19q13.33 19 50466900C> T null E K 157 157 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1321999905 19q13.33 19 50466900C> G null E Q 157 157 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1252434183 19q13.33 19 50466875T> C null H R 165 165 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1201036095 19q13.33 19 50466876G> A null H Y 165 165 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 gnomAD rs1429391881 19q13.33 19 50466873G> A null R * 166 166 stop gained 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs977017828 19q13.33 19 50466872C> T null R Q 166 166 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1175855986 19q13.33 19 50466855T> C null S G 172 172 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1269734278 19q13.33 19 50466853A> C null S R 172 172 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 Ensembl rs1568673095 19q13.33 19 50466845G> A null P L 175 175 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1434044111 19q13.33 19 50466846G> A null P S 175 175 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs902685888 19q13.33 19 50466840C> A null G C 177 177 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 Ensembl rs1568673080 19q13.33 19 50466836C> T null R Q 178 178 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed,gnomAD rs1047044718 19q13.33 19 50466837G> A null R W 178 178 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs911098706 19q13.33 19 50466813T> C null I V 186 186 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs1460214900 19q13.33 19 50466807C> A null V F 188 188 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B789 FAM71E1 Protein FAM71E1 TOPMed rs952650828 19q13.33 19 50466800G> T null P Q 190 190 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B791 ZNF780A Zinc finger protein 780A 1000Genomes rs548228931 19q13.2 19 40084750C> T null V I 2 2 2.0E-4 missense 0.01 benign 0.1 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1402479487 19q13.2 19 40084746T> C null H R 3 3 missense 0.068 benign 0.08 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ESP,ExAC,TOPMed,gnomAD rs368684262 19q13.2 19 40083236C> T null G E 4 4 missense 0.72 possibly damaging 0.14 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed rs1025091965 19q13.2 19 40083237C> T null G R 4 4 missense 0.795 possibly damaging 0.03 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A ESP,ExAC,TOPMed,gnomAD rs368684262 19q13.2 19 40083236C> A null G V 4 4 missense 0.286 benign 0.05 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed rs1223541139 19q13.2 19 40083231C> G null V L 6 6 missense 0.005 benign 0.2 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1009218897 19q13.2 19 40083223G> T null F L 8 8 missense 0.579 possibly damaging 0.01 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1004837653 19q13.2 19 40083215A> G null V A 11 11 missense 0.587 possibly damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1409679765 19q13.2 19 40083212G> T null A D 12 12 missense 0.613 possibly damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs779849221 19q13.2 19 40083213C> T null A T 12 12 missense 0.75 possibly damaging 0.06 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1164729525 19q13.2 19 40083194T> G null E A 18 18 missense 0.506 possibly damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1164729525 19q13.2 19 40083194T> C null E G 18 18 missense 0.684 possibly damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A ESP,ExAC,TOPMed,gnomAD rs376786217 19q13.2 19 40083192C> A null E * 19 19 stop gained 0 A0A075B791 ZNF780A Zinc finger protein 780A Ensembl rs1294773225 19q13.2 19 40083187C> T null W * 20 20 stop gained 0 A0A075B791 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,gnomAD rs193011790 19q13.2 19 40083186C> T null E K 21 21 2.0E-4 missense 0.054 benign 0.06 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A Ensembl rs887896458 19q13.2 19 40083182C> G null C S 22 22 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1249979237 19q13.2 19 40083180G> T null L M 23 23 missense 0.529 possibly damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1299276243 19q13.2 19 40083179A> G null L P 23 23 missense 0.604 possibly damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1209450015 19q13.2 19 40083177G> A null Q * 24 24 stop gained 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs756541533 19q13.2 19 40083175C> A null Q H 24 24 missense 0.403 benign 0.04 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A 1000Genomes rs560647175 19q13.2 19 40083174G> A null P S 25 25 2.0E-4 missense 0.175 benign 0.76 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC rs753131584 19q13.2 19 40083171C> G null D H 26 26 missense 0.424 benign 0.04 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs767808864 19q13.2 19 40083155T> C null Y C 31 31 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1230351924 19q13.2 19 40083153T> C null R G 32 32 missense 0.0 benign 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186689652 19q13.2 19 40083149T> A null D V 33 33 0.003395 missense 0.099 benign 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs759938680 19q13.2 19 40083150C> A null D Y 33 33 missense 0.601 possibly damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs766529747 19q13.2 19 40083147C> T null V M 34 34 missense 0.879 possibly damaging 0.05 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs763024800 19q13.2 19 40083142C> T null M I 35 35 missense 0.258 benign 0.08 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1367001815 19q13.2 19 40083143A> T null M K 35 35 missense 0.677 possibly damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1433778330 19q13.2 19 40083140A> G null L S 36 36 missense 0.735 possibly damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs773233638 19q13.2 19 40083130G> T null Y * 39 39 stop gained 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs769744289 19q13.2 19 40083128C> T null S N 40 40 missense 0.481 possibly damaging 0.08 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs748086991 19q13.2 19 40083120T> G null I L 43 43 missense 0.0 benign 0.05 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs765275077 19q13.2 19 40081911C> T null S N 47 47 missense 0.324 benign 0.22 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed rs1420233385 19q13.2 19 40081908G> C null S C 48 48 missense 0.0 benign 0.4 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs761950207 19q13.2 19 40081906T> G null I L 49 49 missense 0.017 benign 0.07 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1197675932 19q13.2 19 40081902G> A null S F 50 50 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A NCI-TCGA,TOPMed,gnomAD rs200125809 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19q13.2 19 40081884G> A null T M 56 56 missense 0.551 possibly damaging 0.0 deleterious 1 A0A075B791 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,TOPMed,gnomAD rs551340499 19q13.2 19 40081864C> G null E Q 63 63 9.98E-4 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs775389486 19q13.2 19 40081853C> T null M I 66 66 missense 0.0 benign 0.12 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1344184407 19q13.2 19 40081854A> G null M T 66 66 missense 0.01 benign 0.03 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1255383164 19q13.2 19 40081851A> G null V A 67 67 missense 0.028 benign 0.17 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs771875897 19q13.2 19 40081849C> G null V L 68 68 missense 0.0 benign 0.26 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs868346879 19q13.2 19 40081845C> T null R K 69 69 missense 0.023 benign 0.24 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs868346879 19q13.2 19 40081845C> A null R M 69 69 missense 0.397 benign 0.0 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed rs972524150 19q13.2 19 40081843T> G null K Q 70 70 missense 0.346 benign 0.07 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs745568435 19q13.2 19 40081838T> G null E D 71 71 missense 0.935 probably damaging 0.51 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ESP,TOPMed rs368373481 19q13.2 19 40081837T> C null T A 72 72 missense 0.935 probably damaging 0.06 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs778701160 19q13.2 19 40081836G> A null T I 72 72 missense 0.981 probably damaging 0.03 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs778701160 19q13.2 19 40081836G> C null T R 72 72 missense 0.987 probably damaging 0.06 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A Ensembl rs1568453415 19q13.2 19 40081831T> C null R G 74 74 missense 0.0 benign 0.79 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,gnomAD rs533290623 19q13.2 19 40081830C> T null R K 74 74 2.0E-4 missense 0.05 benign 0.9 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,TOPMed,gnomAD rs550614087 19q13.2 19 40081827C> T null R Q 75 75 2.0E-4 missense 0.0 benign 0.52 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,TOPMed,gnomAD rs557141470 cosmic curated [Cosmic]: lung cosmic_study:417 19q13.2 19 40081828G> A null R W 75 75 2.0E-4 missense 0.0 benign 0.68 tolerated 1 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs746175495 19q13.2 19 40076204C> T null E K 80 80 missense 0.067 benign 0.11 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117501285 19q13.2 19 40076179A> G null V A 88 88 0.003195 missense 0.003 benign 0.02 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A Ensembl rs983651253 19q13.2 19 40076171C> T null E K 91 91 missense 0.042 benign 0.94 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs756234237 19q13.2 19 40076162T> C null T A 94 94 missense 0.0 benign 0.03 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1323237973 19q13.2 19 40076153C> T null V I 97 97 missense 0.0 benign 1.0 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1313176151 19q13.2 19 40076149T> G null N T 98 98 missense 0.956 probably damaging 0.17 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs752736241 19q13.2 19 40076145T> G null L F 99 99 missense 0.986 probably damaging 0.14 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A Ensembl rs1568447962 19q13.2 19 40076143G> A null P L 100 100 missense 0.489 possibly damaging 0.48 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ESP rs368123779 19q13.2 19 40076144G> A null P S 100 100 missense 0.031 benign 1.0 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1031718987 19q13.2 19 40076137T> C null Q R 102 102 missense 0.0 benign 0.55 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs771265971 19q13.2 19 40076135C> A null V F 103 103 missense 0.0 benign 0.1 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1423661737 19q13.2 19 40076134A> C null V G 103 103 missense 0.003 benign 0.37 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs771265971 19q13.2 19 40076135C> T null V I 103 103 missense 0.0 benign 0.36 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74805553 19q13.2 19 40076132T> A null I L 104 104 0.02436 missense 0.006 benign 0.04 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A TOPMed rs1226309039 19q13.2 19 40076126G> T null Q K 106 106 missense 0.001 benign 0.17 tolerated 0 A0A075B791 ZNF780A Zinc finger protein 780A gnomAD rs1320420154 19q13.2 19 40076122A> G null I T 107 107 missense 0.95 probably damaging 0.04 deleterious 0 A0A075B791 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs774152400 19q13.2 19 40076117T> G null T P 109 109 missense 0.0 benign 0.01 deleterious 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372493783 Xq28 X 149583173G> A null L F 3 3 0.001854 missense 0.152 benign 0.26 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372493783 Xq28 X 149583173G> C null L V 3 3 0.001854 missense 0.836 possibly damaging 0.18 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781791570 Xq28 X 149583170C> T null E K 4 4 missense 0.636 possibly damaging 0.21 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782633209 Xq28 X 149583160C> T null S N 7 7 missense 0.909 probably damaging 0.09 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782470689 Xq28 X 149583157G> A null P L 8 8 missense 0.001 benign 0.09 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782766640 Xq28 X 149583127G> T null A D 18 18 missense 0.995 probably damaging 0.13 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC rs782144981 Xq28 X 149583119C> A null E * 21 21 stop gained 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781803642 Xq28 X 149583116C> T null D N 22 22 missense 0.015 benign 0.06 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC rs782091455 Xq28 X 149583102C> T null M I 26 26 missense 0.029 benign 0.03 deleterious 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351029 Xq28 X 149583101C> T null G S 27 27 missense 0.909 probably damaging 0.06 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781950530 Xq28 X 149583091T> C null E G 30 30 missense 0.0 benign 0.01 deleterious 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,dbSNP,gnomAD rs202146513 pubmed:20598277 Xq28 X 149583088G> T null P H 31 31 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) Ensembl rs1569560888 Xq28 X 149583079_149583080insTGCTGTCAGAGGAGGAGGTAGTCTCCT C null E G 34 34 stop gained 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782408487 Xq28 X 149583080C> T null E K 34 34 missense 0.96 probably damaging 0.05 deleterious 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351013 Xq28 X 149583058G> A null S F 41 41 missense 0.176 benign 0.74 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782200179 Xq28 X 149583049C> A null S I 44 44 missense 0.007 benign 0.04 deleterious 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782354350 Xq28 X 149583043T> C null E G 46 46 missense 0.288 benign 0.39 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781924002 Xq28 X 149583044C> T null E K 46 46 missense 0.173 benign 0.92 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351008 Xq28 X 149583039C> G null E D 47 47 missense 0.906 possibly damaging 0.1 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351007 Xq28 X 149583038C> T null E K 48 48 missense 0.674 possibly damaging 0.18 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC rs782217025 Xq28 X 149583034A> G null V A 49 49 missense 0.231 benign 0.04 deleterious 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350997 Xq28 X 149583020A> T null S T 54 54 missense 0.46 possibly damaging 0.65 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350992 Xq28 X 149583014T> C null S G 56 56 missense 0.027 benign 0.66 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350990 Xq28 X 149583013C> A null S I 56 56 missense 0.966 probably damaging 0.06 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350989 Xq28 X 149583011G> T null P T 57 57 missense 0.406 benign 0.23 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782647922 Xq28 X 149583003C> G null Q H 59 59 missense 0.176 benign 0.05 deleterious 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350986 Xq28 X 149583002T> C null S G 60 60 missense 0.783 possibly damaging 0.27 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350978 Xq28 X 149582992C> T null G E 63 63 missense 0.271 benign 0.2 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350983 Xq28 X 149582993C> T null G R 63 63 missense 0.377 benign 0.45 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782517426 Xq28 X 149582987C> T null A T 65 65 missense 0.183 benign 0.39 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350977 Xq28 X 149582984A> G null S P 66 66 missense 0.828 possibly damaging 0.25 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782277165 Xq28 X 149582969C> T null V I 71 71 missense 0.012 benign 1.0 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350967 Xq28 X 149582963A> T null Y N 73 73 missense 0.242 benign 0.39 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350963 Xq28 X 149582943G> C null F L 79 79 missense 0.006 benign 0.27 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350956 Xq28 X 149582908G> C null P R 91 91 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350954 Xq28 X 149582899G> A null S L 94 94 missense 0.031 benign 0.5 tolerated 0 A0A075B794 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350947 Xq28 X 149582871C> G null M I 103 103 missense 0.017 benign 0.41 tolerated 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1326537421 19q13.2 19 41124719C> A null A D 1 1 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1428404368 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124721C> T null R C 2 2 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs749467843 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.2 19 41124722G> A null R H 2 2 missense 0.109 benign 0.21 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182353952 19q13.2 19 41124724G> C null V L 3 3 0.003594 missense 0.107 benign 0.04 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182353952 19q13.2 19 41124724G> T null V L 3 3 0.003594 missense 0.107 benign 0.04 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182353952 19q13.2 19 41124724G> A null V M 3 3 0.003594 missense 0.979 probably damaging 0.03 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1333487100 19q13.2 19 41124728A> T null Q L 4 4 missense 0.902 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1333487100 19q13.2 19 41124728A> G null Q R 4 4 missense 0.88 possibly damaging 0.02 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1233320731 19q13.2 19 41124731A> G null E G 5 5 missense 0.665 possibly damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs1439331523 19q13.2 19 41124730G> A null E K 5 5 missense 0.106 benign 0.18 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1208507741 19q13.2 19 41124735G> C null E D 6 6 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) Ensembl rs866537281 19q13.2 19 41124738C> G null I M 7 7 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372824170 19q13.2 19 41124737T> A null I N 7 7 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs775948155 19q13.2 19 41124739G> C null D H 8 8 missense 0.99 probably damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1243044452 19q13.2 19 41124745G> A null V M 10 10 missense 0.268 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs1394558403 19q13.2 19 41124749T> A null V E 11 11 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1186042769 19q13.2 19 41124751G> A null G R 12 12 missense 0.657 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,NCI-TCGA,gnomAD rs764719015 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124754C> T null R C 13 13 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1167127026 19q13.2 19 41124755G> C null R P 13 13 missense 0.973 probably damaging 0.11 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs552985767 19q13.2 19 41124757G> C null A P 14 14 2.0E-4 missense 0.06 benign 0.28 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs552985767 19q13.2 19 41124757G> T null A S 14 14 2.0E-4 missense 0.108 benign 0.76 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs552985767 cosmic curated [Cosmic]: central_nervous_system pubmed:22832583,cosmic_study:379 19q13.2 19 41124757G> A null A T 14 14 2.0E-4 missense 0.065 benign 0.58 tolerated - low confidence 1 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs1441435776 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.2 19 41124758C> T null A V 14 14 missense 0.036 benign 0.33 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs1246264595 19q13.2 19 41124761G> C null R P 15 15 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs1246264595 19q13.2 19 41124761G> A null R Q 15 15 missense 0.138 benign 0.07 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376080668 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124760C> T null R W 15 15 missense 0.15 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs568085061 19q13.2 19 41124767C> T null P L 17 17 2.0E-4 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs568085061 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124767C> A null P Q 17 17 2.0E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs568085061 19q13.2 19 41124767C> G null P R 17 17 2.0E-4 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs925126589 19q13.2 19 41124766C> A null P T 17 17 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs777720181 19q13.2 19 41124769G> A null A T 18 18 missense 0.028 benign 0.27 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs749333476 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124770C> T null A V 18 18 missense 0.036 benign 0.25 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1209121694 19q13.2 19 41124778G> A null D N 21 21 missense 0.991 probably damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,NCI-TCGA,gnomAD rs369493486 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124781C> T null R C 22 22 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,TOPMed rs373232027 19q13.2 19 41124782G> A null R H 22 22 missense 0.081 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,gnomAD rs369493486 19q13.2 19 41124781C> A null R S 22 22 missense 0.838 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs950111044 19q13.2 19 41124784G> A null A T 23 23 missense 0.031 benign 0.2 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,NCI-TCGA,gnomAD rs761170962 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124785C> T null A V 23 23 missense 0.014 benign 0.07 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs1435567739 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124787G> A null A T 24 24 missense 0.131 benign 0.16 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs762483034 19q13.2 19 41124792G> A null M I 25 25 missense 0.042 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs762483034 19q13.2 19 41124792G> T null M I 25 25 missense 0.042 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs765985687 19q13.2 19 41124794C> T null P L 26 26 missense 0.314 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs765985687 19q13.2 19 41124794C> G null P R 26 26 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1374478221 19q13.2 19 41124796T> G null Y D 27 27 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1374478221 19q13.2 19 41124796T> C null Y H 27 27 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1434935874 19q13.2 19 41124799A> T null T S 28 28 missense 0.452 possibly damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) Ensembl rs386809335 19q13.2 19 41124805_41124806delinsA T null A M 30 30 missense 0.774 possibly damaging 0.06 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150197628 19q13.2 19 41124805G> A null A T 30 30 2.0E-4 missense 0.878 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs139008556 19q13.2 19 41124806C> T null A V 30 30 missense 0.685 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs1188436496 19q13.2 19 41124809T> A null V E 31 31 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs756135831 19q13.2 19 41124813C> G null I M 32 32 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1232561646 19q13.2 19 41124817G> T null E * 34 34 stop gained 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs777718696 19q13.2 19 41124819G> C null E D 34 34 missense 0.703 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs1254985530 19q13.2 19 41124821T> A null V E 35 35 missense 0.925 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs1348939860 19q13.2 19 41124820G> A null V M 35 35 missense 0.981 probably damaging 0.02 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs199974498 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19q13.2 19 41124826C> T null R C 37 37 missense 0.19 benign 0.01 deleterious - low confidence 1 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs757331747 19q13.2 19 41124827G> A null R H 37 37 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs199974498 19q13.2 19 41124826C> A null R S 37 37 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs746081050 19q13.2 19 41124833C> G null A G 39 39 missense 0.96 probably damaging 0.17 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs779057628 19q13.2 19 41124832G> A null A T 39 39 missense 0.664 possibly damaging 0.08 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs746081050 19q13.2 19 41124833C> T null A V 39 39 missense 0.925 probably damaging 0.07 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs772211507 19q13.2 19 41124835G> A null D N 40 40 missense 0.473 possibly damaging 0.04 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs780407249 19q13.2 19 41124838A> G null I V 41 41 missense 0.007 benign 0.37 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs1394228089 19q13.2 19 41124841A> G null I V 42 42 missense 0.075 benign 0.3 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs777087761 19q13.2 19 41124844C> T null P S 43 43 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1393812362 19q13.2 19 41124847A> G null M V 44 44 missense 0.045 benign 0.03 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs762465626 19q13.2 19 41124855G> T null L F 46 46 missense 0.134 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) Ensembl rs879148271 19q13.2 19 41124854T> C null L S 46 46 missense 0.977 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,NCI-TCGA,TOPMed rs371341517 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124857C> T null P L 47 47 missense 0.718 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) Ensembl rs202164777 19q13.2 19 41124860A> G null H R 48 48 missense 0.848 possibly damaging 0.07 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1403176874 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124862C> T null R C 49 49 missense 0.994 probably damaging 0.03 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368079396 19q13.2 19 41124863G> A null R H 49 49 missense 0.224 benign 0.18 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368079396 19q13.2 19 41124863G> C null R P 49 49 missense 0.995 probably damaging 0.03 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs367923974 19q13.2 19 41124865G> A null V I 50 50 missense 0.074 benign 0.13 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs367923974 19q13.2 19 41124865G> C null V L 50 50 missense 0.074 benign 0.06 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1268657511 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124874G> A null D N 53 53 missense 0.969 probably damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs138507242 19q13.2 19 41124878C> A null T K 54 54 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs138507242 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41124878C> T null T M 54 54 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs758453484 19q13.2 19 41124886C> T null R C 57 57 missense 0.102 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs780150882 19q13.2 19 41124887G> A null R H 57 57 missense 0.048 benign 0.11 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) Ensembl rs1568382223 19q13.2 19 41124899T> C null I T 61 61 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368705802 19q13.2 19 41124906G> C null K N 63 63 missense 0.917 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) Ensembl rs1555721021 19q13.2 19 41124905A> G null K R 63 63 missense 0.088 benign 0.02 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1157251103 19q13.2 19 41125493G> A null G S 64 64 missense 0.36 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs756477913 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41125499G> A null D N 66 66 missense 0.885 possibly damaging 0.19 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs1468912832 19q13.2 19 41125502G> A null V I 67 67 missense 0.006 benign 0.61 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs778321024 19q13.2 19 41125505A> G null I V 68 68 missense 0.986 probably damaging 0.05 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1293982326 19q13.2 19 41125509C> T null T I 69 69 missense 0.999 probably damaging 0.29 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144315434 [UniProt]: allele CYP2F1*5A and in allele CYP2F1*5B 19q13.2 19 41125512T> C null L P 70 70 0.05651 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1228191390 19q13.2 19 41125515T> G null L R 71 71 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs970587270 19q13.2 19 41125520A> G null T A 73 73 missense 0.075 benign 0.06 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs1286643264 19q13.2 19 41125521C> T null T I 73 73 missense 0.274 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs768113626 19q13.2 19 41125523G> T null V F 74 74 missense 0.572 possibly damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs768113626 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41125523G> A null V I 74 74 missense 0.176 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs763105046 19q13.2 19 41125534C> G null D E 77 77 missense 0.795 possibly damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs764980124 19q13.2 19 41125532G> C null D H 77 77 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs764980124 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.2 19 41125532G> A null D N 77 77 missense 0.352 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) Ensembl rs1568382641 19q13.2 19 41125535C> G null P A 78 78 missense 0.495 possibly damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs766593156 19q13.2 19 41125538A> T null S C 79 79 missense 0.967 probably damaging 0.02 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs751795979 19q13.2 19 41125548T> C null L P 82 82 missense 0.049 benign 0.31 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374908629 19q13.2 19 41125551C> A null T K 83 83 missense 0.09 benign 0.24 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374908629 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.2 19 41125551C> T null T M 83 83 missense 0.301 benign 0.03 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs756718414 19q13.2 19 41125554C> T null P L 84 84 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs1373948006 19q13.2 19 41125562T> C null F L 87 87 missense 0.918 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs778231197 19q13.2 19 41125569C> T null P L 89 89 missense 0.845 possibly damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs779843499 19q13.2 19 41125572A> G null E G 90 90 missense 0.03 benign 0.48 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369307205 19q13.2 19 41125571G> A null E K 90 90 5.99E-4 missense 0.15 benign 0.1 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs768184982 19q13.2 19 41125583G> A null D N 94 94 missense 0.958 probably damaging 0.05 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs776039017 19q13.2 19 41125590A> G null N S 96 96 missense 0.014 benign 0.17 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1345368884 19q13.2 19 41125593A> C null Q P 97 97 missense 0.905 possibly damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs1439352057 19q13.2 19 41125603G> C null K N 100 100 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1256184433 19q13.2 19 41125607A> T null S C 102 102 missense 0.946 probably damaging 0.02 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs748072044 19q13.2 19 41125611C> T null P L 103 103 missense 0.967 probably damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1250442072 19q13.2 19 41125620T> G null M R 106 106 missense 0.91 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs919930084 19q13.2 19 41125625T> C null F L 108 108 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ESP rs374735231 19q13.2 19 41125632C> G null A G 110 110 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs1173108205 19q13.2 19 41125635G> C null G A 111 111 missense 0.936 probably damaging 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs1173108205 19q13.2 19 41125635G> A null G D 111 111 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs1337082717 19q13.2 19 41125634G> A null G S 111 111 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs772926718 19q13.2 19 41125637G> A null E K 112 112 missense 0.145 benign 1.0 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs772926718 19q13.2 19 41125637G> C null E Q 112 112 missense 0.024 benign 0.03 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs1454026572 19q13.2 19 41125640G> C null G R 113 113 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs762733855 19q13.2 19 41125644G> A null R K 114 114 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC rs774610920 19q13.2 19 41125653G> A null S N 117 117 missense 0.001 benign 0.05 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) Ensembl rs1568382779 19q13.2 19 41125654T> A null S R 117 117 missense 0.006 benign 0.04 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) Ensembl rs878879687 19q13.2 19 41125664C> T null P S 121 121 missense 0.81 possibly damaging 0.03 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs752740780 19q13.2 19 41125668T> C null I T 122 122 missense 0.3 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs767593438 19q13.2 19 41125667A> G null I V 122 122 missense 0.071 benign 0.03 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1368557571 19q13.2 19 41125673A> G null T A 124 124 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs756628771 19q13.2 19 41125676T> G null Y D 125 125 missense 0.012 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs756628771 19q13.2 19 41125676T> C null Y H 125 125 missense 0.02 benign 0.27 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs1391011179 19q13.2 19 41125680T> A null I N 126 126 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1201912762 19q13.2 19 41125682C> T null P S 127 127 missense 0.81 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs983479742 19q13.2 19 41125688C> G null P A 129 129 missense 0.0 unknown 0.05 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1458646918 19q13.2 19 41125697A> G null T A 132 132 missense 0.398 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs754612024 19q13.2 19 41125704A> G null Q R 134 134 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1192076659 19q13.2 19 41125709C> A null L I 136 136 missense 0.0 benign 0.23 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs1427528606 19q13.2 19 41125710T> G null L R 136 136 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs747663480 19q13.2 19 41125718C> T null L F 139 139 missense 0.001 benign 0.08 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1466113383 19q13.2 19 41125721C> T null P S 140 140 missense 0.81 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs769361609 19q13.2 19 41125725C> A null S Y 141 141 missense 0.788 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs774044372 19q13.2 19 41125737A> G null Q R 145 145 missense 0.151 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed,gnomAD rs912724454 19q13.2 19 41125739C> T null L F 146 146 missense 0.773 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1212419193 19q13.2 19 41125740T> C null L P 146 146 missense 0.887 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs759752833 19q13.2 19 41125744G> A null W * 147 147 missense 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs775570294 19q13.2 19 41125747G> T null M I 148 148 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs772193849 19q13.2 19 41125745A> G null M V 148 148 missense 0.0 benign 0.48 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs760828701 19q13.2 19 41125748C> A null H N 149 149 missense 0.0 benign 0.32 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs764323617 19q13.2 19 41125755A> G null D G 151 151 missense 0.737 possibly damaging 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs765590525 19q13.2 19 41125759T> G null I M 152 152 missense 0.16 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs762445664 19q13.2 19 41125757A> G null I V 152 152 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs750769119 19q13.2 19 41125763T> A null S T 154 154 missense 0.109 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1264110976 19q13.2 19 41125766T> C null S P 155 155 missense 0.0 benign 0.47 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,gnomAD rs780706615 19q13.2 19 41125785A> G null Y C 161 161 missense 0.383 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) TOPMed rs1280482968 19q13.2 19 41125784T> C null Y H 161 161 missense 0.235 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs545700548 19q13.2 19 41125788G> A null R K 162 162 0.005591 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs545700548 19q13.2 19 41125788G> T null R M 162 162 0.005591 missense 0.149 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1415674851 19q13.2 19 41125793G> A null V I 164 164 missense 0.0 benign 0.47 tolerated - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) gnomAD rs1404686231 19q13.2 19 41125800C> G null T S 166 166 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A075B795 CYP2F1 Cytochrome P450 2F1 (Fragment) ExAC,TOPMed,gnomAD rs4803429 19q13.2 19 41125811G> A null V M 170 170 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A075B796 ZNF780A Zinc finger protein 780A 1000Genomes rs548228931 19q13.2 19 40084750C> T null V I 2 2 2.0E-4 missense 0.036 benign 0.12 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1402479487 19q13.2 19 40084746T> C null H R 3 3 missense 0.036 benign 0.08 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ESP,ExAC,TOPMed,gnomAD rs368684262 19q13.2 19 40083236C> T null G E 4 4 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed rs1025091965 19q13.2 19 40083237C> T null G R 4 4 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ESP,ExAC,TOPMed,gnomAD rs368684262 19q13.2 19 40083236C> A null G V 4 4 missense 0.994 probably damaging 0.05 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed rs1223541139 19q13.2 19 40083231C> G null V L 6 6 missense 0.007 benign 0.2 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1009218897 19q13.2 19 40083223G> T null F L 8 8 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1004837653 19q13.2 19 40083215A> G null V A 11 11 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1409679765 19q13.2 19 40083212G> T null A D 12 12 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs779849221 19q13.2 19 40083213C> T null A T 12 12 missense 0.989 probably damaging 0.06 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1164729525 19q13.2 19 40083194T> G null E A 18 18 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1164729525 19q13.2 19 40083194T> C null E G 18 18 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ESP,ExAC,TOPMed,gnomAD rs376786217 19q13.2 19 40083192C> A null E * 19 19 stop gained 0 A0A075B796 ZNF780A Zinc finger protein 780A Ensembl rs1294773225 19q13.2 19 40083187C> T null W * 20 20 stop gained 0 A0A075B796 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,gnomAD rs193011790 19q13.2 19 40083186C> T null E K 21 21 2.0E-4 missense 0.663 possibly damaging 0.06 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A Ensembl rs887896458 19q13.2 19 40083182C> G null C S 22 22 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1249979237 19q13.2 19 40083180G> T null L M 23 23 missense 0.745 possibly damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1299276243 19q13.2 19 40083179A> G null L P 23 23 missense 0.857 possibly damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1209450015 19q13.2 19 40083177G> A null Q * 24 24 stop gained 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs756541533 19q13.2 19 40083175C> A null Q H 24 24 missense 0.505 possibly damaging 0.02 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A 1000Genomes rs560647175 19q13.2 19 40083174G> A null P S 25 25 2.0E-4 missense 0.44 benign 0.72 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC rs753131584 19q13.2 19 40083171C> G null D H 26 26 missense 0.353 benign 0.05 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs767808864 19q13.2 19 40083155T> C null Y C 31 31 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1230351924 19q13.2 19 40083153T> C null R G 32 32 missense 0.067 benign 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186689652 19q13.2 19 40083149T> A null D V 33 33 0.003395 missense 0.245 benign 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs759938680 19q13.2 19 40083150C> A null D Y 33 33 missense 0.761 possibly damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs766529747 19q13.2 19 40083147C> T null V M 34 34 missense 0.992 probably damaging 0.06 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs763024800 19q13.2 19 40083142C> T null M I 35 35 missense 0.708 possibly damaging 0.08 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1367001815 19q13.2 19 40083143A> T null M K 35 35 missense 0.855 possibly damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1433778330 19q13.2 19 40083140A> G null L S 36 36 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs773233638 19q13.2 19 40083130G> T null Y * 39 39 stop gained 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs769744289 19q13.2 19 40083128C> T null S N 40 40 missense 0.303 benign 0.07 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs748086991 19q13.2 19 40083120T> G null I L 43 43 missense 0.0 benign 0.04 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ESP,ExAC,gnomAD rs372162220 19q13.2 19 40081915C> A null G * 47 47 stop gained 0 A0A075B796 ZNF780A Zinc finger protein 780A ESP,ExAC,gnomAD rs372162220 19q13.2 19 40081915C> T null G R 47 47 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs765275077 19q13.2 19 40081911C> T null S N 48 48 missense 0.447 possibly damaging 0.29 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed rs1420233385 19q13.2 19 40081908G> C null S C 49 49 missense 0.0 benign 0.36 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs761950207 19q13.2 19 40081906T> G null I L 50 50 missense 0.007 benign 0.06 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1197675932 19q13.2 19 40081902G> A null S F 51 51 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A NCI-TCGA,TOPMed,gnomAD rs200125809 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19q13.2 19 40081884G> A null T M 57 57 missense 0.683 possibly damaging 0.0 deleterious 1 A0A075B796 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,TOPMed,gnomAD rs551340499 19q13.2 19 40081864C> G null E Q 64 64 9.98E-4 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs775389486 19q13.2 19 40081853C> T null M I 67 67 missense 0.0 benign 0.15 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1344184407 19q13.2 19 40081854A> G null M T 67 67 missense 0.01 benign 0.03 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1255383164 19q13.2 19 40081851A> G null V A 68 68 missense 0.051 benign 0.18 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs771875897 19q13.2 19 40081849C> G null V L 69 69 missense 0.0 benign 0.23 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs868346879 19q13.2 19 40081845C> T null R K 70 70 missense 0.007 benign 0.26 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs868346879 19q13.2 19 40081845C> A null R M 70 70 missense 0.188 benign 0.0 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed rs972524150 19q13.2 19 40081843T> G null K Q 71 71 missense 0.291 benign 0.04 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs745568435 19q13.2 19 40081838T> G null E D 72 72 missense 0.935 probably damaging 0.52 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ESP,TOPMed rs368373481 19q13.2 19 40081837T> C null T A 73 73 missense 0.935 probably damaging 0.07 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs778701160 19q13.2 19 40081836G> A null T I 73 73 missense 0.981 probably damaging 0.03 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs778701160 19q13.2 19 40081836G> C null T R 73 73 missense 0.987 probably damaging 0.07 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A Ensembl rs1568453415 19q13.2 19 40081831T> C null R G 75 75 missense 0.0 benign 0.74 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,gnomAD rs533290623 19q13.2 19 40081830C> T null R K 75 75 2.0E-4 missense 0.112 benign 0.75 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,TOPMed,gnomAD rs550614087 19q13.2 19 40081827C> T null R Q 76 76 2.0E-4 missense 0.0 benign 0.53 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,TOPMed,gnomAD rs557141470 cosmic curated [Cosmic]: lung cosmic_study:417 19q13.2 19 40081828G> A null R W 76 76 2.0E-4 missense 0.0 benign 0.68 tolerated 1 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs746175495 19q13.2 19 40076204C> T null E K 81 81 missense 0.118 benign 0.1 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117501285 19q13.2 19 40076179A> G null V A 89 89 0.003195 missense 0.003 benign 0.02 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A Ensembl rs983651253 19q13.2 19 40076171C> T null E K 92 92 missense 0.023 benign 0.83 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs756234237 19q13.2 19 40076162T> C null T A 95 95 missense 0.0 benign 0.03 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1323237973 19q13.2 19 40076153C> T null V I 98 98 missense 0.0 benign 1.0 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1313176151 19q13.2 19 40076149T> G null N T 99 99 missense 0.956 probably damaging 0.11 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs752736241 19q13.2 19 40076145T> G null L F 100 100 missense 0.986 probably damaging 0.18 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A Ensembl rs1568447962 19q13.2 19 40076143G> A null P L 101 101 missense 0.57 possibly damaging 0.44 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ESP rs368123779 19q13.2 19 40076144G> A null P S 101 101 missense 0.031 benign 1.0 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1031718987 19q13.2 19 40076137T> C null Q R 103 103 missense 0.0 benign 0.52 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs771265971 19q13.2 19 40076135C> A null V F 104 104 missense 0.0 benign 0.08 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1423661737 19q13.2 19 40076134A> C null V G 104 104 missense 0.003 benign 0.37 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs771265971 19q13.2 19 40076135C> T null V I 104 104 missense 0.0 benign 0.39 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74805553 19q13.2 19 40076132T> A null I L 105 105 0.02436 missense 0.003 benign 0.05 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A TOPMed rs1226309039 19q13.2 19 40076126G> T null Q K 107 107 missense 0.003 benign 0.16 tolerated 0 A0A075B796 ZNF780A Zinc finger protein 780A gnomAD rs1320420154 19q13.2 19 40076122A> G null I T 108 108 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B796 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs774152400 19q13.2 19 40076117T> G null T P 110 110 missense 0.0 benign 0.01 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs762843467 19q13.33 19 49560039G> A null A V 4 4 missense 0.142 benign 0.07 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1009398687 19q13.33 19 49560013T> C null I V 13 13 missense 0.031 benign 0.3 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1275538743 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.33 19 49560010G> A null R * 14 14 stop gained 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1227176476 19q13.33 19 49560009C> T null R Q 14 14 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) Ensembl rs1568724951 19q13.33 19 49560006A> G null L P 15 15 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) Ensembl rs960368965 19q13.33 19 49560004T> C null S G 16 16 missense 0.023 benign 1.0 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1315160192 19q13.33 19 49560003C> T null S N 16 16 missense 0.118 benign 0.05 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) Ensembl rs1568724914 19q13.33 19 49560000C> T null R Q 17 17 missense 0.902 possibly damaging 0.04 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1432497287 19q13.33 19 49559998C> T null D N 18 18 missense 0.973 probably damaging 0.02 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) Ensembl rs867913659 19q13.33 19 49559994G> A null A V 19 19 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs768366062 19q13.33 19 49559992C> T null V M 20 20 missense 0.358 benign 0.19 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs760425715 19q13.33 19 49559981G> C null F L 23 23 missense 0.924 probably damaging 0.02 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1446453191 19q13.33 19 49559979T> G null D A 24 24 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs775323843 19q13.33 19 49559980C> G null D H 24 24 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs775323843 19q13.33 19 49559980C> T null D N 24 24 missense 0.778 possibly damaging 0.03 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1162427500 19q13.33 19 49559965A> T null S T 29 29 missense 0.111 benign 1.0 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1385722912 19q13.33 19 49559950G> C null H D 34 34 missense 0.113 benign 0.04 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1385722912 19q13.33 19 49559950G> A null H Y 34 34 missense 0.503 possibly damaging 0.07 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs779285289 19q13.33 19 49559947C> T null D N 35 35 missense 0.292 benign 0.33 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1233180989 19q13.33 19 49559941C> G null V L 37 37 missense 0.822 possibly damaging 0.11 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1001952426 19q13.33 19 49559938C> G null V L 38 38 missense 0.396 benign 0.05 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ESP,ExAC,TOPMed,gnomAD rs370833946 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49559934G> A null T I 39 39 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ESP,ExAC,TOPMed,gnomAD rs370833946 19q13.33 19 49559934G> C null T S 39 39 missense 0.729 possibly damaging 0.24 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1427534182 19q13.33 19 49558976G> A null P L 40 40 missense 0.947 probably damaging 0.03 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1347003747 19q13.33 19 49558977G> A null P S 40 40 missense 0.55 possibly damaging 0.12 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs753806135 19q13.33 19 49558967T> C null Y C 43 43 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1377499726 19q13.33 19 49558964A> T null L Q 44 44 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1462936981 19q13.33 19 49558961T> C null Y C 45 45 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs764184868 19q13.33 19 49558956G> A null R C 47 47 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs938456550 19q13.33 19 49558955C> T null R H 47 47 missense 0.71 possibly damaging 0.07 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs938456550 19q13.33 19 49558955C> A null R L 47 47 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) Ensembl rs759763761 19q13.33 19 49558949G> T null A D 49 49 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1477134927 19q13.33 19 49558947T> C null I V 50 50 missense 0.731 possibly damaging 0.12 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs755682821 19q13.33 19 49558929G> A null H Y 56 56 missense 0.127 benign 0.03 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs752257192 19q13.33 19 49558920T> C null K E 59 59 missense 0.406 benign 0.02 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1372396852 19q13.33 19 49558918C> G null K N 59 59 missense 0.198 benign 0.13 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1253729061 19q13.33 19 49558919T> C null K R 59 59 missense 0.03 benign 0.08 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs767023635 19q13.33 19 49558916T> G null E A 60 60 missense 0.646 possibly damaging 0.1 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC rs759258487 19q13.33 19 49558914T> G null I L 61 61 missense 0.045 benign 0.13 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1216519575 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49558910G> A null A V 62 62 missense 0.16 benign 0.04 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs766703222 19q13.33 19 49558907C> T null R Q 63 63 missense 0.769 possibly damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370070206 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49558908G> A null R W 63 63 missense 0.377 benign 0.02 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1463992892 19q13.33 19 49557248G> A null A V 67 67 missense 0.561 possibly damaging 0.12 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1367188779 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49557245T> C null Y C 68 68 missense 0.483 possibly damaging 0.04 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1444763551 19q13.33 19 49557243C> A null E * 69 69 stop gained 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1444763551 19q13.33 19 49557243C> T null E K 69 69 missense 0.68 possibly damaging 0.03 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs754491390 19q13.33 19 49557240T> G null K Q 70 70 missense 0.237 benign 0.13 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1436855961 19q13.33 19 49557233C> T null R Q 72 72 missense 0.041 benign 0.39 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1176453226 19q13.33 19 49557234G> A null R W 72 72 missense 0.949 probably damaging 0.05 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1309230211 19q13.33 19 49557231C> G null G R 73 73 missense 0.039 benign 0.33 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1250973102 19q13.33 19 49557227G> A null T I 74 74 missense 0.006 benign 0.17 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ESP,ExAC,TOPMed,gnomAD rs200238455 19q13.33 19 49557225G> C null R G 75 75 missense 0.382 benign 0.07 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1487476518 19q13.33 19 49557224C> G null R P 75 75 missense 0.023 benign 0.08 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ESP,ExAC,TOPMed,gnomAD rs200238455 19q13.33 19 49557225G> A null R W 75 75 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1325369637 19q13.33 19 49557222G> A null R C 76 76 missense 0.862 possibly damaging 0.01 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs151017072 19q13.33 19 49557219C> T null E K 77 77 missense 0.065 benign 0.09 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs151017072 19q13.33 19 49557219C> G null E Q 77 77 missense 0.34 benign 0.11 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) Ensembl rs1568722307 19q13.33 19 49557216C> T null E K 78 78 missense 0.493 possibly damaging 0.12 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed rs762403392 19q13.33 19 49557211C> G null Q H 79 79 missense 0.219 benign 0.06 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed rs762403392 19q13.33 19 49557211C> A null Q H 79 79 missense 0.219 benign 0.06 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed rs776532299 19q13.33 19 49557210T> C null K E 80 80 missense 0.01 benign 0.55 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs768749037 19q13.33 19 49557208C> G null K N 80 80 missense 0.039 benign 0.17 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1011408552 19q13.33 19 49557194G> C null A G 85 85 missense 0.954 probably damaging 0.03 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1011408552 19q13.33 19 49557194G> A null A V 85 85 missense 0.951 probably damaging 0.05 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ESP,ExAC,TOPMed,gnomAD rs199804285 19q13.33 19 49557188G> A null S L 87 87 missense 0.003 benign 0.24 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1303135812 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.33 19 49557186G> A null Q * 88 88 stop gained 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1386623628 19q13.33 19 49557179T> C null H R 90 90 missense 0.0 benign 0.57 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ESP,ExAC,TOPMed,gnomAD rs138001141 19q13.33 19 49557180G> A null H Y 90 90 missense 0.068 benign 0.42 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1469318896 19q13.33 19 49557173C> T null R Q 92 92 missense 0.034 benign 0.25 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,NCI-TCGA,gnomAD rs769816516 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49557174G> A null R W 92 92 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1186539310 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49557170C> T null G D 93 93 missense 0.018 benign 0.47 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1186539310 19q13.33 19 49557170C> A null G V 93 93 missense 0.112 benign 0.11 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs751092563 19q13.33 19 49557158T> C null K R 97 97 missense 0.17 benign 0.38 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs751092563 19q13.33 19 49557158T> G null K T 97 97 missense 0.171 benign 0.31 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs758056354 19q13.33 19 49557152G> T null S * 99 99 stop gained 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs779613179 19q13.33 19 49557153A> T null S T 99 99 missense 0.018 benign 0.22 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed rs754347770 19q13.33 19 49557147T> A null I F 101 101 missense 0.43 benign 0.03 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed rs754347770 19q13.33 19 49557147T> C null I V 101 101 missense 0.237 benign 0.07 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201976944 19q13.33 19 49557144C> A null V L 102 102 2.0E-4 missense 0.054 benign 0.11 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201976944 19q13.33 19 49557144C> G null V L 102 102 2.0E-4 missense 0.054 benign 0.11 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201976944 19q13.33 19 49557144C> T null V M 102 102 2.0E-4 missense 0.23 benign 0.03 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1350273519 19q13.33 19 49557140C> T null S N 103 103 missense 0.288 benign 0.12 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs772372595 19q13.33 19 49557137C> T null R Q 104 104 missense 0.119 benign 0.21 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs775726917 19q13.33 19 49557138G> A null R W 104 104 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs375469093 19q13.33 19 49557132G> A null L F 106 106 missense 0.817 possibly damaging 0.19 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs375469093 19q13.33 19 49557132G> T null L I 106 106 missense 0.108 benign 0.23 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs769613583 19q13.33 19 49557127G> C null N K 107 107 missense 0.17 benign 0.17 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs944633904 19q13.33 19 49557125G> T null P H 108 108 missense 0.432 benign 0.03 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1406091463 19q13.33 19 49557126G> T null P T 108 108 missense 0.713 possibly damaging 0.1 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs747954571 19q13.33 19 49557119G> A null T I 110 110 missense 0.211 benign 0.14 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1399569740 19q13.33 19 49557117C> T null A T 111 111 missense 0.034 benign 0.23 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1259184349 19q13.33 19 49557114T> C null K E 112 112 missense 0.141 benign 0.22 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs919275543 19q13.33 19 49557108G> A null L F 114 114 missense 0.006 benign 0.08 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs768477864 19q13.33 19 49557104G> A null S L 115 115 missense 0.022 benign 0.06 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1199807755 19q13.33 19 49557099T> C null T A 117 117 missense 0.03 benign 0.33 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1481391496 19q13.33 19 49557098G> A null T I 117 117 missense 0.299 benign 0.12 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs753236913 19q13.33 19 49556993T> G null D A 120 120 missense 0.028 benign 0.21 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs753236913 19q13.33 19 49556993T> C null D G 120 120 missense 0.02 benign 0.15 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs753236913 19q13.33 19 49556993T> A null D V 120 120 missense 0.099 benign 0.07 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs768200508 19q13.33 19 49556991C> G null D H 121 121 missense 0.842 possibly damaging 0.04 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs755108331 19q13.33 19 49556988C> T null V I 122 122 missense 0.185 benign 0.23 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs751690144 19q13.33 19 49556983T> G null Q H 123 123 missense 0.796 possibly damaging 0.14 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1415409021 19q13.33 19 49556984T> C null Q R 123 123 missense 0.012 benign 0.25 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1175119319 19q13.33 19 49556982G> T null P T 124 124 missense 0.063 benign 0.12 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs766561412 19q13.33 19 49556967C> A null G C 129 129 missense 0.021 benign 0.01 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1170597053 19q13.33 19 49556966C> A null G V 129 129 missense 0.063 benign 0.08 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs763103809 19q13.33 19 49556961G> A null P S 131 131 missense 0.018 benign 0.77 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs763763680 19q13.33 19 49556957C> T null S N 132 132 missense 0.082 benign 0.1 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1231543334 19q13.33 19 49556950G> T null D E 134 134 missense 0.034 benign 0.59 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1484357222 19q13.33 19 49556951T> C null D G 134 134 missense 0.009 benign 0.52 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ESP,ExAC,gnomAD rs368503120 19q13.33 19 49556947C> A null K N 135 135 missense 0.823 possibly damaging 0.05 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) 1000Genomes,ExAC,gnomAD rs555883614 19q13.33 19 49556940C> T null V M 138 138 2.0E-4 missense 0.142 benign 0.14 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1275773136 19q13.33 19 49556937G> T null L M 139 139 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs990830867 19q13.33 19 49556933G> A null P L 140 140 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs758989830 19q13.33 19 49556918G> A null P L 145 145 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) Ensembl,dbSNP rs17850728 pubmed:15489334 19q13.33 19 49556909G> A null T M 148 148 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1442609579 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556904C> T null E K 150 150 missense 0.329 benign 0.05 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1356027900 19q13.33 19 49556897T> C null K R 152 152 missense 0.931 probably damaging 0.02 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs957992254 19q13.33 19 49556888T> C null K R 155 155 missense 0.236 benign 0.12 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) Ensembl rs746981590 19q13.33 19 49556878C> A null K N 158 158 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1423911495 19q13.33 19 49556877G> T null P T 159 159 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1435309155 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556423C> T null W * 160 160 missense 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1478929902 19q13.33 19 49556421C> T null G D 161 161 missense 0.118 benign 0.05 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs750366685 19q13.33 19 49556415C> G null G A 163 163 missense 0.024 benign 0.75 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1191050622 19q13.33 19 49556410G> C null P A 165 165 missense 0.011 benign 1.0 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs779054554 19q13.33 19 49556409G> A null P L 165 165 missense 0.019 benign 0.12 tolerated 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs756824747 19q13.33 19 49556404T> A null M L 167 167 missense 0.089 benign 0.01 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1210802336 19q13.33 19 49556403A> G null M T 167 167 missense 0.13 benign 0.0 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs555844856 19q13.33 19 49556401G> A null R C 168 168 2.0E-4 missense 0.01 benign 0.01 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs760406810 19q13.33 19 49556400C> T null R H 168 168 missense 0.007 benign 0.01 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs760406810 19q13.33 19 49556400C> A null R L 168 168 missense 0.0 benign 0.02 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ESP,ExAC,TOPMed,gnomAD rs142202252 19q13.33 19 49556395C> G null E Q 170 170 missense 0.036 benign 0.02 deleterious 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1462374780 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556385G> A null S L 173 173 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) 1000Genomes rs201174800 19q13.33 19 49556383C> A null E * 174 174 stop gained 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1201431638 19q13.33 19 49556379C> T null G E 175 175 missense 0.141 benign 0.01 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1478182768 19q13.33 19 49556376T> C null H R 176 176 missense 0.27 benign 0.01 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs767900611 19q13.33 19 49556370C> T null G E 178 178 missense 0.196 benign 0.02 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1226008214 19q13.33 19 49556368G> T null P T 179 179 missense 0.771 possibly damaging 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs1365252524 19q13.33 19 49556363A> C null C W 180 180 missense 0.014 benign 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs537534103 19q13.33 19 49556355C> T null R K 183 183 0.001198 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1450006020 19q13.33 19 49556352T> C null Q R 184 184 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs774833205 19q13.33 19 49556349G> T null T N 185 185 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1158879379 19q13.33 19 49556345G> T null H Q 186 186 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs762959254 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49556340G> A null P L 188 188 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs771428805 19q13.33 19 49556341G> A null P S 188 188 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs769870703 19q13.33 19 49556334T> C null H R 190 190 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs748374339 19q13.33 19 49556331T> C null H R 191 191 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs781321147 19q13.33 19 49556329G> A null R C 192 192 missense 0.051 benign 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1237282977 19q13.33 19 49556319G> A null A V 195 195 missense 0.057 benign 0.02 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs776589503 19q13.33 19 49555820G> A null R W 197 197 missense 0.109 benign 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs764364369 19q13.33 19 49555816T> C null Y C 198 198 missense 0.034 benign 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs761009026 19q13.33 19 49555814G> A null R W 199 199 missense 0.714 possibly damaging 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs775904295 19q13.33 19 49555811G> C null L V 200 200 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1314707606 19q13.33 19 49555808G> A null R C 201 201 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,NCI-TCGA,gnomAD rs770835468 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49555807C> A null R L 201 201 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ESP,ExAC,TOPMed,gnomAD rs149091874 19q13.33 19 49555805C> T null G R 202 202 missense 0.0 unknown 0.7 tolerated - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ESP,ExAC,TOPMed,gnomAD rs149091874 19q13.33 19 49555805C> G null G R 202 202 missense 0.0 unknown 0.7 tolerated - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,NCI-TCGA,gnomAD rs769628946 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49555798C> T null R Q 204 204 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs528425276 19q13.33 19 49555793C> T null E K 206 206 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs747640817 19q13.33 19 49555790C> T null A T 207 207 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC rs754527587 19q13.33 19 49555781C> T null G R 210 210 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) Ensembl rs775828579 19q13.33 19 49555771G> A null T M 213 213 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151233389 19q13.33 19 49555766C> G null G R 215 215 3.99E-4 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151233389 19q13.33 19 49555766C> T null G S 215 215 3.99E-4 missense 0.0 unknown 0.95 tolerated - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs765719587 19q13.33 19 49555756C> T null G D 218 218 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,gnomAD rs750758902 19q13.33 19 49555757C> T null G S 218 218 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed,gnomAD rs958045159 19q13.33 19 49555742C> T null G R 223 223 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) TOPMed rs1388471410 19q13.33 19 49555733T> C null N D 226 226 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs200860162 19q13.33 19 49555732T> C null N S 226 226 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) ExAC,TOPMed,gnomAD rs200860162 19q13.33 19 49555732T> G null N T 226 226 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1466134724 19q13.33 19 49555724C> T null A T 229 229 missense 0.911 probably damaging 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1261019963 19q13.33 19 49555723G> A null A V 229 229 missense 0.871 possibly damaging 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) gnomAD rs1232456761 19q13.33 19 49555720C> G null W S 230 230 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B797 NOSIP E3 ubiquitin-protein ligase NOSIP (Fragment) 1000Genomes,ExAC,gnomAD rs572182396 19q13.33 19 49555714C> T null R H 232 232 2.0E-4 missense 0.711 possibly damaging 0.0 deleterious - low confidence 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372493783 Xq28 X 149583173G> A null L F 3 3 0.001854 missense 0.152 benign 0.17 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372493783 Xq28 X 149583173G> C null L V 3 3 0.001854 missense 0.836 possibly damaging 0.14 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781791570 Xq28 X 149583170C> T null E K 4 4 missense 0.636 possibly damaging 0.23 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782633209 Xq28 X 149583160C> T null S N 7 7 missense 0.909 probably damaging 0.07 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782470689 Xq28 X 149583157G> A null P L 8 8 missense 0.001 benign 0.08 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782766640 Xq28 X 149583127G> T null A D 18 18 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC rs782144981 Xq28 X 149583119C> A null E * 21 21 stop gained 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781803642 Xq28 X 149583116C> T null D N 22 22 missense 0.015 benign 0.04 deleterious 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC rs782091455 Xq28 X 149583102C> T null M I 26 26 missense 0.029 benign 0.12 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351029 Xq28 X 149583101C> T null G S 27 27 missense 0.909 probably damaging 0.04 deleterious 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781950530 Xq28 X 149583091T> C null E G 30 30 missense 0.0 benign 0.0 deleterious 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,dbSNP,gnomAD rs202146513 pubmed:20598277 Xq28 X 149583088G> T null P H 31 31 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) Ensembl rs1569560888 Xq28 X 149583079_149583080insTGCTGTCAGAGGAGGAGGTAGTCTCCT C null E G 34 34 stop gained 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782408487 Xq28 X 149583080C> T null E K 34 34 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351013 Xq28 X 149583058G> A null S F 41 41 missense 0.176 benign 0.52 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782200179 Xq28 X 149583049C> A null S I 44 44 missense 0.007 benign 0.04 deleterious 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782354350 Xq28 X 149583043T> C null E G 46 46 missense 0.288 benign 0.38 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781924002 Xq28 X 149583044C> T null E K 46 46 missense 0.173 benign 0.92 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351008 Xq28 X 149583039C> G null E D 47 47 missense 0.906 possibly damaging 0.12 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351007 Xq28 X 149583038C> T null E K 48 48 missense 0.674 possibly damaging 0.2 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC rs782217025 Xq28 X 149583034A> G null V A 49 49 missense 0.231 benign 0.2 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350997 Xq28 X 149583020A> T null S T 54 54 missense 0.46 possibly damaging 0.55 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350992 Xq28 X 149583014T> C null S G 56 56 missense 0.027 benign 0.68 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350990 Xq28 X 149583013C> A null S I 56 56 missense 0.966 probably damaging 0.09 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350989 Xq28 X 149583011G> T null P T 57 57 missense 0.406 benign 0.22 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782647922 Xq28 X 149583003C> G null Q H 59 59 missense 0.176 benign 0.04 deleterious 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350986 Xq28 X 149583002T> C null S G 60 60 missense 0.783 possibly damaging 0.17 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350978 Xq28 X 149582992C> T null G E 63 63 missense 0.271 benign 0.14 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350983 Xq28 X 149582993C> T null G R 63 63 missense 0.377 benign 0.46 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782517426 Xq28 X 149582987C> T null A T 65 65 missense 0.183 benign 0.22 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350977 Xq28 X 149582984A> G null S P 66 66 missense 0.828 possibly damaging 0.22 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782277165 Xq28 X 149582969C> T null V I 71 71 missense 0.012 benign 1.0 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350967 Xq28 X 149582963A> T null Y N 73 73 missense 0.242 benign 0.34 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350963 Xq28 X 149582943G> C null F L 79 79 missense 0.006 benign 0.4 tolerated 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350956 Xq28 X 149582908G> C null P R 91 91 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B798 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350954 Xq28 X 149582899G> A null S L 94 94 missense 0.031 benign 0.42 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1297654161 19q13.33 19 48617873A> G null V A 3 3 missense 0.046 benign 0.06 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed rs1255974070 19q13.33 19 48617874C> T null V M 3 3 missense 0.896 possibly damaging 0.0 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed rs1460351240 19q13.33 19 48617867A> G null I T 5 5 missense 0.249 benign 0.08 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ESP,ExAC,gnomAD rs146179249 19q13.33 19 48617865G> A null R C 6 6 missense 0.014 benign 0.2 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs753278830 19q13.33 19 48617864C> T null R H 6 6 missense 0.023 benign 0.14 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs753278830 19q13.33 19 48617864C> A null R L 6 6 missense 0.04 benign 0.22 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs753278830 19q13.33 19 48617864C> G null R P 6 6 missense 0.838 possibly damaging 0.16 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs775081789 19q13.33 19 48617856T> C null K E 9 9 missense 0.801 possibly damaging 0.08 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs771914333 19q13.33 19 48617855T> C null K R 9 9 missense 0.904 possibly damaging 0.36 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ESP,ExAC,TOPMed,gnomAD rs143728553 19q13.33 19 48617851G> T null D E 10 10 missense 0.921 probably damaging 0.41 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed,gnomAD rs1422877211 19q13.33 19 48617852T> C null D G 10 10 missense 0.188 benign 0.14 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs745708400 19q13.33 19 48617853C> T null D N 10 10 missense 0.951 probably damaging 0.24 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs745708400 19q13.33 19 48617853C> A null D Y 10 10 missense 0.275 benign 0.01 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs756946560 19q13.33 19 48617844C> A null V F 13 13 missense 0.117 benign 0.18 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 1000Genomes,ExAC,gnomAD rs201501207 19q13.33 19 48617841G> A null R W 14 14 2.0E-4 missense 0.034 benign 0.06 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1225808453 19q13.33 19 48617820G> C null Q E 21 21 missense 0.628 possibly damaging 0.47 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 1000Genomes,ExAC,gnomAD rs561664573 19q13.33 19 48617814T> C null I V 23 23 3.99E-4 missense 0.093 benign 1.0 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1040235659 19q13.33 19 48617803C> A null R S 26 26 missense 0.853 possibly damaging 0.14 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed rs1439751276 19q13.33 19 48617795A> C null V G 29 29 missense 0.056 benign 0.02 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs747671244 19q13.33 19 48617415C> G null R S 33 33 missense 0.222 benign 0.06 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl rs11554942 19q13.33 19 48617396T> C null N D 40 40 missense 0.117 benign 0.74 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1457936149 19q13.33 19 48617394G> C null N K 40 40 missense 0.273 benign 0.18 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ESP,ExAC,TOPMed,gnomAD rs368962215 19q13.33 19 48617381G> C null Q E 45 45 missense 0.481 possibly damaging 0.07 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl rs1804325 19q13.33 19 48617380T> A null Q L 45 45 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1159601947 19q13.33 19 48617375C> A null V L 47 47 missense 0.333 benign 0.03 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1265834448 19q13.33 19 48617368T> C null K R 49 49 missense 0.981 probably damaging 0.41 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl,dbSNP rs1568425218 [ClinVar]: Diamond-Blackfan anemia 18, [UniProt]: unknown pathological significance pubmed:28280134 pubmed:28280134 19q13.33 19 48617362A> G null L S 51 51 missense 0.377 benign 0.01 deleterious 0 Diamond-Blackfan anemia 18 (DBA18) Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50% of affected individuals, and growth retardation in 30% of affected individuals. MIM:618310 pubmed:20301769,ClinVar:RCV000754828 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl,dbSNP rs1568425218 [ClinVar]: Diamond-Blackfan anemia 18, [UniProt]: unknown pathological significance pubmed:28280134 pubmed:28280134 19q13.33 19 48617362A> G null L S 51 51 missense 0.377 benign 0.01 deleterious 0 Diamond-Blackfan anemia 18 (DBA18) A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA18 inheritance is autosomal dominant. MIM:618310 pubmed:28280134 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs757474012 19q13.33 19 48617350C> T null R H 55 55 missense 0.023 benign 0.05 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl rs1018713668 19q13.33 19 48617341C> T null R Q 58 58 missense 0.104 benign 0.07 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl rs11554941 19q13.33 19 48617335G> T null P H 60 60 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs759454766 19q13.33 19 48617333G> C null L V 61 61 missense 0.303 benign 0.38 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs17851938 19q13.33 19 48617329G> C null S C 62 62 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed rs1285166361 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48617320C> T null R Q 65 65 missense 0.043 benign 0.05 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl rs1568425178 19q13.33 19 48617321G> A null R W 65 65 missense 0.023 benign 0.01 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ESP,ExAC,TOPMed,gnomAD rs374561441 19q13.33 19 48616821G> C null R G 68 68 missense 0.024 benign 0.03 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs764449977 19q13.33 19 48616820C> T null R Q 68 68 missense 0.024 benign 0.09 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ESP,ExAC,TOPMed,gnomAD rs374561441 19q13.33 19 48616821G> A null R W 68 68 missense 0.014 benign 0.04 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs775772539 19q13.33 19 48616818T> G null K Q 69 69 missense 0.804 possibly damaging 0.33 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl rs11554937 19q13.33 19 48616815T> A null M L 70 70 missense 0.384 benign 0.18 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs767702521 19q13.33 19 48616800G> A null R W 75 75 missense 0.014 benign 0.07 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs765399222 19q13.33 19 48616796T> C null E G 76 76 missense 0.957 probably damaging 0.02 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1175926638 19q13.33 19 48616794T> C null N D 77 77 missense 0.066 benign 0.44 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ESP,ExAC,TOPMed,gnomAD rs371932309 19q13.33 19 48616792G> C null N K 77 77 missense 0.653 possibly damaging 0.42 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs748098468 19q13.33 19 48616788T> C null T A 79 79 missense 0.641 possibly damaging 0.02 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ESP,ExAC,TOPMed,gnomAD rs141675994 19q13.33 19 48616787G> A null T M 79 79 missense 0.424 benign 0.03 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ESP,ExAC,TOPMed,gnomAD rs11554936 19q13.33 19 48616784G> A null A V 80 80 missense 0.273 benign 0.27 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl rs943209811 19q13.33 19 48616779C> A null V F 82 82 missense 0.178 benign 0.01 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 1000Genomes rs201384708 19q13.33 19 48616775A> G null V A 83 83 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed,gnomAD rs1424865802 19q13.33 19 48616767T> C null I V 86 86 missense 0.046 benign 1.0 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 1000Genomes,TOPMed rs199716834 19q13.33 19 48616754A> G null V A 90 90 missense 0.187 benign 0.69 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl rs12037 19q13.33 19 48616732T> A null K N 97 97 missense 0.888 possibly damaging 0.01 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed,gnomAD rs1178310429 19q13.33 19 48616734T> G null K Q 97 97 missense 0.804 possibly damaging 0.01 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed rs1009077639 19q13.33 19 48615444G> C null L V 101 101 missense 0.009 benign 0.47 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs747097841 19q13.33 19 48615441G> A null R C 102 102 missense 0.0 benign 0.1 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs774339729 19q13.33 19 48615440C> T null R H 102 102 missense 0.067 benign 0.01 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs770830016 19q13.33 19 48615437G> A null P L 103 103 missense 0.0 benign 0.6 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1175730382 19q13.33 19 48615438G> A null P S 103 103 missense 0.007 benign 0.08 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1168630634 19q13.33 19 48615432G> A null Q * 105 105 stop gained 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed,gnomAD rs1340381173 19q13.33 19 48615429C> T null G R 106 106 missense 0.024 benign 0.29 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 1000Genomes,TOPMed,gnomAD rs199925096 19q13.33 19 48615425G> A null P L 107 107 2.0E-4 missense 0.0 benign 0.07 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 1000Genomes,TOPMed,gnomAD rs199925096 19q13.33 19 48615425G> T null P Q 107 107 2.0E-4 missense 0.015 benign 0.03 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs777711106 19q13.33 19 48615420C> T null V I 109 109 missense 0.024 benign 0.13 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs755784683 19q13.33 19 48615417G> A null R * 110 110 stop gained 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs747784721 19q13.33 19 48615416C> G null R P 110 110 missense 0.067 benign 0.0 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs780751812 19q13.33 19 48615413G> A null A V 111 111 missense 0.007 benign 0.02 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs751090493 19q13.33 19 48615411A> G null C R 112 112 missense 0.079 benign 0.86 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1249166191 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19q13.33 19 48615406C> G null Q H 113 113 missense 0.073 benign 0.14 tolerated - low confidence 1 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,NCI-TCGA,TOPMed,gnomAD rs766853623 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.33 19 48615401G> A null P L 115 115 missense 0.856 possibly damaging 0.03 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 1000Genomes,ESP,ExAC,gnomAD rs151024665 19q13.33 19 48615399T> C null T A 116 116 2.0E-4 missense 0.015 benign 1.0 tolerated 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs765612540 19q13.33 19 48615398G> A null T M 116 116 missense 0.209 benign 0.02 deleterious 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs776881353 19q13.33 19 48615389G> A null P L 119 119 missense 0.856 possibly damaging 1.0 tolerated - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs760794035 19q13.33 19 48615381G> A null Q * 122 122 stop gained 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs775443853 19q13.33 19 48615380T> G null Q P 122 122 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs775443853 19q13.33 19 48615380T> C null Q R 122 122 missense 0.0 unknown 0.2 tolerated - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed rs1190443086 19q13.33 19 48615378T> C null K E 123 123 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed,gnomAD rs1442545398 19q13.33 19 48615371G> A null T I 125 125 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed,gnomAD rs1442545398 19q13.33 19 48615371G> C null T S 125 125 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs769684666 19q13.33 19 48615366C> T null D N 127 127 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,TOPMed,gnomAD rs769684666 19q13.33 19 48615366C> A null D Y 127 127 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs748026369 19q13.33 19 48615363G> A null P S 128 128 missense 0.0 unknown 0.49 tolerated - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 ExAC,gnomAD rs780887216 19q13.33 19 48615359G> A null T I 129 129 missense 0.0 unknown 0.33 tolerated - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1276342067 19q13.33 19 48615357G> A null L F 130 130 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl rs1441205453 19q13.33 19 48615356A> G null L P 130 130 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed rs1003223107 19q13.33 19 48615353A> G null L S 131 131 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A0 RPL18 60S ribosomal protein L18 gnomAD rs1246125956 19q13.33 19 48615344C> T null R K 134 134 missense 0.0 unknown 0 A0A075B7A0 RPL18 60S ribosomal protein L18 TOPMed rs1167315467 19q13.33 19 48615342A> G null F L 135 135 missense 0.0 unknown 0 A0A075B7A0 RPL18 60S ribosomal protein L18 Ensembl rs3180952 19q13.33 19 48615332G> T null T K 138 138 missense 0.0 unknown 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs746500122 19q13.33 19 48625963G> A null A T 2 2 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs768262963 19q13.33 19 48625967C> T null P L 3 3 missense 0.014 benign 0.01 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs768262963 19q13.33 19 48625967C> G null P R 3 3 missense 0.465 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1211559574 19q13.33 19 48625969C> A null P T 4 4 missense 0.06 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs867313034 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48625972C> T null P S 5 5 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs761395432 19q13.33 19 48625976C> T null P L 6 6 missense 0.0 benign 0.14 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs761395432 19q13.33 19 48625976C> A null P Q 6 6 missense 0.626 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1362135726 19q13.33 19 48625979C> T null P L 7 7 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1181283560 19q13.33 19 48625978C> A null P T 7 7 missense 0.181 benign 0.02 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs762821228 19q13.33 19 48625982T> C null L P 8 8 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs1568431162 19q13.33 19 48625984G> T null A S 9 9 missense 0.235 benign 0.06 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs961310600 19q13.33 19 48625987G> C null A P 10 10 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1173265152 19q13.33 19 48625994C> T null T I 12 12 missense 0.003 benign 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1460243211 19q13.33 19 48625993A> T null T S 12 12 missense 0.01 benign 0.11 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,TOPMed,gnomAD rs45457791 19q13.33 19 48625997C> T null P L 13 13 2.0E-4 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1268315462 19q13.33 19 48625996C> A null P T 13 13 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1327721144 19q13.33 19 48626000T> C null L P 14 14 missense 0.739 possibly damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1449560985 19q13.33 19 48626002C> T null L F 15 15 missense 0.865 possibly damaging 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1293878896 19q13.33 19 48626006A> G null H R 16 16 missense 0.922 probably damaging 0.09 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs757514813 19q13.33 19 48626011G> C null E Q 18 18 missense 0.518 possibly damaging 0.1 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs377438093 19q13.33 19 48626021C> G null S C 21 21 missense 0.949 probably damaging 0.04 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1339746130 19q13.33 19 48626024A> G null Y C 22 22 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1195471749 19q13.33 19 48626027C> G null P R 23 23 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs750798176 19q13.33 19 48626030C> T null A V 24 24 missense 0.438 benign 0.09 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,NCI-TCGA,gnomAD rs758872660 [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.33 19 48626032C> T null R * 25 25 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs139701014 19q13.33 19 48626033G> A null R Q 25 25 missense 0.006 benign 0.04 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs752828820 19q13.33 19 48626035G> A null G S 26 26 missense 0.979 probably damaging 0.08 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs916310419 19q13.33 19 48626038C> G null P A 27 27 missense 0.105 benign 0.19 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs916310419 19q13.33 19 48626038C> T null P S 27 27 missense 0.007 benign 0.31 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1461755986 19q13.33 19 48626041C> T null R C 28 28 missense 0.851 possibly damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs780609863 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48626042G> A null R H 28 28 missense 0.809 possibly damaging 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1461755986 19q13.33 19 48626041C> A null R S 28 28 missense 0.027 benign 0.1 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs747824744 19q13.33 19 48626044T> C null F L 29 29 missense 0.009 benign 0.11 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1415751814 19q13.33 19 48626048C> T null A V 30 30 missense 0.971 probably damaging 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1239150931 19q13.33 19 48626054C> G null T S 32 32 missense 0.343 benign 0.39 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,gnomAD rs373456164 19q13.33 19 48626057T> C null L P 33 33 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs201012558 19q13.33 19 48626060C> T null T I 34 34 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs764301338 19q13.33 19 48626063C> T null S L 35 35 missense 0.073 benign 0.16 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs762179812 19q13.33 19 48626065C> A null Q K 36 36 missense 0.648 possibly damaging 0.47 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs765530004 19q13.33 19 48626066A> T null Q L 36 36 missense 0.574 possibly damaging 0.03 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs765530004 19q13.33 19 48626066A> G null Q R 36 36 missense 0.188 benign 0.23 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144465202 19q13.33 19 48626077A> C null I L 40 40 3.99E-4 missense 0.655 possibly damaging 0.19 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP rs145417734 19q13.33 19 48626078T> C null I T 40 40 missense 0.93 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1369852406 19q13.33 19 48626080C> G null Q E 41 41 missense 0.985 probably damaging 0.09 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1309673158 19q13.33 19 48626081A> C null Q P 41 41 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs148710464 19q13.33 19 48626084G> T null R L 42 42 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs148710464 19q13.33 19 48626084G> C null R P 42 42 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs148710464 19q13.33 19 48626084G> A null R Q 42 42 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,NCI-TCGA,gnomAD rs190331084 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48626083C> T null R W 42 42 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs11544355 19q13.33 19 48626089C> T null R C 44 44 missense 0.729 possibly damaging 0.03 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,NCI-TCGA,gnomAD rs780699561 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 19q13.33 19 48626090G> A null R H 44 44 missense 0.729 possibly damaging 0.04 deleterious 1 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1404429384 19q13.33 19 48626093C> T null P L 45 45 missense 0.987 probably damaging 0.06 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs755803753 19q13.33 19 48626104G> A null A T 49 49 missense 0.274 benign 0.11 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs777396276 19q13.33 19 48626105C> T null A V 49 49 missense 0.863 possibly damaging 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs770765456 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48626114G> A null R Q 52 52 missense 0.357 benign 0.08 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,TOPMed,gnomAD rs538214471 19q13.33 19 48626113C> T null R W 52 52 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs773979069 19q13.33 19 48626116G> A null G S 53 53 missense 0.654 possibly damaging 0.66 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1332547161 19q13.33 19 48626119G> A null G S 54 54 missense 0.916 probably damaging 0.22 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs772114663 19q13.33 19 48626128C> G null P A 57 57 missense 0.242 benign 0.13 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1218847539 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48626129C> T null P L 57 57 missense 0.015 benign 0.1 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs772114663 19q13.33 19 48626128C> A null P T 57 57 missense 0.327 benign 0.05 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1203846768 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48626137G> A null E K 60 60 missense 0.658 possibly damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1346565516 19q13.33 19 48626140G> A null V I 61 61 missense 0.024 benign 0.29 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs998107683 19q13.33 19 48626143T> A null S T 62 62 missense 0.198 benign 0.39 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1193897913 19q13.33 19 48626152T> G null C G 65 65 missense 0.001 benign 0.56 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1394073578 19q13.33 19 48626153G> A null C Y 65 65 missense 0.341 benign 1.0 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs74714410 19q13.33 19 48626155A> C null T P 66 66 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1452074204 19q13.33 19 48626161C> T null R * 68 68 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs770201930 19q13.33 19 48626162G> A null R Q 68 68 missense 0.047 benign 0.1 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374002772 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48626167C> T null R C 70 70 2.0E-4 missense 0.009 benign 0.08 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1342238256 19q13.33 19 48626168G> A null R H 70 70 missense 0.003 benign 0.12 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs763016146 19q13.33 19 48626171G> A null S N 71 71 missense 0.949 probably damaging 0.07 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs751818397 19q13.33 19 48626174C> T null P L 72 72 missense 0.02 benign 0.03 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs766794257 19q13.33 19 48626173C> T null P S 72 72 missense 0.099 benign 0.12 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377113807 19q13.33 19 48626186C> A null A E 76 76 2.0E-4 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377113807 19q13.33 19 48626186C> T null A V 76 76 2.0E-4 missense 0.94 probably damaging 0.1 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1242481928 19q13.33 19 48626199C> A null C * 80 80 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1307816773 19q13.33 19 48626207C> T null T I 83 83 missense 0.968 probably damaging 0.08 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs753560179 19q13.33 19 48626216G> T null R L 86 86 missense 0.024 benign 0.95 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs753560179 19q13.33 19 48626216G> A null R Q 86 86 missense 0.01 benign 0.34 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs777082742 19q13.33 19 48626215C> T null R W 86 86 missense 0.006 benign 0.18 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs745622704 19q13.33 19 48626222G> T null R L 88 88 missense 0.74 possibly damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs745622704 19q13.33 19 48626222G> A null R Q 88 88 missense 0.457 possibly damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,NCI-TCGA,gnomAD rs778819049 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48626221C> T null R W 88 88 missense 0.971 probably damaging 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs772206882 19q13.33 19 48626224C> T null R C 89 89 missense 0.899 possibly damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1466847255 19q13.33 19 48626225G> A null R H 89 89 missense 0.899 possibly damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,NCI-TCGA,gnomAD rs202163387 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48626227G> A null G R 90 90 2.0E-4 missense 0.118 benign 0.29 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,gnomAD rs202163387 19q13.33 19 48626227G> T null G W 90 90 2.0E-4 missense 0.983 probably damaging 0.12 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs763254269 19q13.33 19 48626234G> T null R L 92 92 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs763254269 19q13.33 19 48626234G> C null R P 92 92 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs763254269 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48626234G> A null R Q 92 92 missense 0.869 possibly damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,TOPMed,gnomAD rs558781988 19q13.33 19 48626233C> T null R W 92 92 2.0E-4 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs759889365 19q13.33 19 48626236C> T null R C 93 93 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs201032744 19q13.33 19 48626237G> A null R H 93 93 missense 0.184 benign 0.23 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1449288081 19q13.33 19 48626243C> A null A D 95 95 missense 0.281 benign 0.2 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1449288081 19q13.33 19 48626243C> G null A G 95 95 missense 0.158 benign 0.13 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC rs753214260 19q13.33 19 48626242G> A null A T 95 95 missense 0.01 benign 1.0 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1372722447 19q13.33 19 48626248C> T null R C 97 97 missense 0.959 probably damaging 0.04 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs201848542 19q13.33 19 48626249G> A null R H 97 97 missense 0.959 probably damaging 0.16 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1336100568 19q13.33 19 48626251A> G null T A 98 98 missense 0.106 benign 0.14 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs753266132 19q13.33 19 48626258G> A null R Q 100 100 missense 0.058 benign 0.09 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs763684440 19q13.33 19 48626257C> T null R W 100 100 missense 0.923 probably damaging 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1320365537 19q13.33 19 48626260G> A null A T 101 101 missense 0.01 benign 0.36 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1478469137 19q13.33 19 48626266G> T null G W 103 103 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1251507854 19q13.33 19 48626269G> A null A T 104 104 missense 0.473 possibly damaging 0.39 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs778430152 19q13.33 19 48626272G> T null A S 105 105 missense 0.037 benign 0.72 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs778430152 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 19q13.33 19 48626272G> A null A T 105 105 missense 0.007 benign 0.6 tolerated 1 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1221873731 19q13.33 19 48626276C> T null T I 106 106 missense 0.276 benign 0.06 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201446226 19q13.33 19 48626280C> G null Y * 107 107 3.99E-4 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs758285481 19q13.33 19 48626281G> A null E K 108 108 missense 0.071 benign 0.1 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs779925053 19q13.33 19 48626282A> T null E V 108 108 missense 0.023 benign 0.07 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs768424544 19q13.33 19 48626285A> C null E A 109 109 missense 0.441 benign 0.24 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs746971781 19q13.33 19 48626284G> C null E Q 109 109 missense 0.763 possibly damaging 0.04 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs367770342 19q13.33 19 48626290C> T null R C 111 111 missense 0.99 probably damaging 0.18 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs771251683 19q13.33 19 48626291G> A null R H 111 111 missense 0.27 benign 0.51 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs367770342 19q13.33 19 48626290C> A null R S 111 111 missense 0.942 probably damaging 0.4 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1314819255 19q13.33 19 48626293G> A null A T 112 112 missense 0.161 benign 0.37 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs149396607 19q13.33 19 48626296G> A null E K 113 113 0.002995 missense 0.951 probably damaging 0.03 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1291933145 19q13.33 19 48626306G> A null R H 116 116 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1392721969 19q13.33 19 48626309G> A null W * 117 117 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs775784571 19q13.33 19 48626315C> T null T I 119 119 missense 0.033 benign 0.13 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs761219874 19q13.33 19 48626318C> T null A V 120 120 missense 0.544 possibly damaging 0.09 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1201940659 19q13.33 19 48626324C> A null T N 122 122 missense 0.217 benign 0.35 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1040471561 19q13.33 19 48626332C> T null L F 125 125 missense 0.938 probably damaging 0.03 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1485691464 19q13.33 19 48626333T> C null L P 125 125 missense 0.939 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs764478078 19q13.33 19 48626335C> T null R * 126 126 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs776275400 19q13.33 19 48626336G> A null R Q 126 126 missense 0.118 benign 0.12 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs761219111 19q13.33 19 48626338G> A null G R 127 127 missense 0.939 probably damaging 0.09 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,TOPMed,gnomAD rs373696806 19q13.33 19 48626348T> C null L P 130 130 0.001398 missense 0.916 probably damaging 0.09 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,TOPMed,gnomAD rs373696806 19q13.33 19 48626348T> G null L R 130 130 0.001398 missense 0.916 probably damaging 0.05 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1426975395 19q13.33 19 48626350C> T null P S 131 131 missense 0.01 benign 0.26 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs758081327 19q13.33 19 48626353G> A null G R 132 132 missense 0.888 possibly damaging 0.15 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs758081327 19q13.33 19 48626353G> T null G W 132 132 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs373368678 19q13.33 19 48627693G> C null E D 135 135 missense 0.05 benign 0.21 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1443541235 19q13.33 19 48627698C> T null T I 137 137 missense 0.164 benign 0.17 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,TOPMed,gnomAD rs199752640 19q13.33 19 48627700C> G null P A 138 138 2.0E-4 missense 0.923 probably damaging 0.19 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1371269789 19q13.33 19 48627703G> A null D N 139 139 missense 0.217 benign 0.31 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs751465116 19q13.33 19 48627707T> C null L P 140 140 missense 0.951 probably damaging 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs751465116 19q13.33 19 48627707T> A null L Q 140 140 missense 0.951 probably damaging 0.05 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1272582595 19q13.33 19 48627706C> G null L V 140 140 missense 0.726 possibly damaging 0.12 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs754716201 19q13.33 19 48627716G> A null R Q 143 143 missense 0.996 probably damaging 0.06 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1314954351 19q13.33 19 48627715C> T null R W 143 143 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs767282896 19q13.33 19 48627719C> T null P L 144 144 missense 0.324 benign 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs950964263 19q13.33 19 48627718C> T null P S 144 144 missense 0.228 benign 0.11 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs950964263 19q13.33 19 48627718C> A null P T 144 144 missense 0.067 benign 0.06 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs756031602 19q13.33 19 48627725G> A null R Q 146 146 missense 0.869 possibly damaging 0.06 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1184603358 19q13.33 19 48627731T> C null L P 148 148 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs758687505 19q13.33 19 48627738G> T null L F 150 150 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1451633565 19q13.33 19 48627754G> A null G S 156 156 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs747199390 19q13.33 19 48627758G> A null R Q 157 157 missense 0.778 possibly damaging 0.12 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1321130229 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung pubmed:20668451,cosmic_study:338 19q13.33 19 48627761G> A null G D 158 158 missense 0.933 probably damaging 0.0 deleterious 1 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1278957698 19q13.33 19 48627770G> A null W * 161 161 missense 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs781583818 19q13.33 19 48627771G> A null W * 161 161 missense 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1235001993 19q13.33 19 48627772C> T null Q * 162 162 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1334525613 19q13.33 19 48627778T> A null C S 164 164 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1273585591 19q13.33 19 48627790G> A null V M 168 168 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs748622477 19q13.33 19 48627793C> T null L F 169 169 missense 0.809 possibly damaging 0.13 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs770398048 19q13.33 19 48627799A> G null M V 171 171 missense 0.222 benign 0.17 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs772886121 19q13.33 19 48627802A> T null I F 172 172 missense 0.023 benign 0.07 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1022061715 19q13.33 19 48627827A> T null N I 180 180 missense 0.797 possibly damaging 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1022061715 19q13.33 19 48627827A> G null N S 180 180 missense 0.161 benign 0.08 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs774157981 19q13.33 19 48627833T> C null I T 182 182 missense 0.988 probably damaging 0.06 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC rs759161904 19q13.33 19 48627836A> G null Q R 183 183 missense 0.974 probably damaging 0.63 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs767246546 19q13.33 19 48627839C> T null T I 184 184 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs767246546 19q13.33 19 48627839C> A null T K 184 184 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs767246546 19q13.33 19 48627839C> G null T R 184 184 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1260382422 19q13.33 19 48627977C> T null R * 186 186 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs753781857 19q13.33 19 48627978G> T null R L 186 186 missense 0.971 probably damaging 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs753781857 19q13.33 19 48627978G> A null R Q 186 186 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs766472809 19q13.33 19 48627989G> A null A T 190 190 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1280313445 19q13.33 19 48627990C> T null A V 190 190 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs941775609 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48627993G> A null R Q 191 191 missense 0.979 probably damaging 0.12 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs751632196 19q13.33 19 48627992C> T null R W 191 191 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs781469323 19q13.33 19 48628001G> A null V I 194 194 missense 0.348 benign 0.18 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs781469323 19q13.33 19 48628001G> C null V L 194 194 missense 0.348 benign 0.03 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1446738810 19q13.33 19 48628004C> T null Q * 195 195 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1187595355 19q13.33 19 48628005A> G null Q R 195 195 missense 0.259 benign 1.0 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs753057679 19q13.33 19 48628016C> A null L M 199 199 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,gnomAD rs541765896 19q13.33 19 48628021T> G null S R 200 200 3.99E-4 missense 0.851 possibly damaging 0.13 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs778214647 19q13.33 19 48628026G> A null W * 202 202 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1393892960 19q13.33 19 48628028G> A null D N 203 203 missense 0.466 possibly damaging 0.06 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes rs559929931 19q13.33 19 48628029A> T null D V 203 203 2.0E-4 missense 0.628 possibly damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1464485375 19q13.33 19 48628032G> A null G D 204 204 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1290513932 19q13.33 19 48628035T> C null I T 205 205 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs778328012 cosmic curated [Cosmic]: liver cosmic_study:322 19q13.33 19 48628037G> A null V I 206 206 missense 0.596 possibly damaging 0.15 tolerated 1 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs778328012 19q13.33 19 48628037G> C null V L 206 206 missense 0.72 possibly damaging 0.06 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs771682478 19q13.33 19 48628041C> T null T M 207 207 missense 0.97 probably damaging 0.06 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1302774765 19q13.33 19 48628044T> C null V A 208 208 missense 0.02 benign 0.13 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1441846821 19q13.33 19 48628043G> A null V I 208 208 missense 0.099 benign 0.11 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1472283758 19q13.33 19 48628047C> T null S L 209 209 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs900261772 19q13.33 19 48628055G> A null G R 212 212 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1207217908 19q13.33 19 48628061C> T null L F 214 214 missense 0.045 benign 0.19 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs761792067 19q13.33 19 48628064C> T null H Y 215 215 missense 0.001 benign 0.69 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs767665089 19q13.33 19 48628171G> A null G R 220 220 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1463647244 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:414,cosmic_study:452 19q13.33 19 48628183C> T null R C 224 224 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs775661505 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48628184G> A null R H 224 224 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs764407642 19q13.33 19 48628193G> A null W * 227 227 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs754312390 19q13.33 19 48628194G> T null W C 227 227 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs757657024 19q13.33 19 48628200A> C null E D 229 229 missense 0.013 benign 0.25 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs765455864 19q13.33 19 48628212G> A null M I 233 233 missense 0.021 benign 0.76 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs750974721 19q13.33 19 48628213C> G null P A 234 234 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,TOPMed,gnomAD rs375999606 19q13.33 19 48628216G> A null V M 235 235 missense 0.824 possibly damaging 0.03 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1341883417 19q13.33 19 48628222A> G null I V 237 237 missense 0.034 benign 0.21 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs960409787 19q13.33 19 48628229C> T null P L 239 239 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs754689223 19q13.33 19 48628233C> A null C * 240 240 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1331695105 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:24241536,cosmic_study:419,cosmic_study:571 19q13.33 19 48628234G> A null G S 241 241 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1043398066 19q13.33 19 48628238C> T null S L 242 242 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs759607232 19q13.33 19 48628247C> A null A E 245 245 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs147603863 19q13.33 19 48628246G> A null A T 245 245 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs759607232 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19q13.33 19 48628247C> T null A V 245 245 missense 0.998 probably damaging 0.0 deleterious 1 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs867878766 19q13.33 19 48628253C> A null A D 247 247 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1389651988 19q13.33 19 48628252G> T null A S 247 247 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1389651988 19q13.33 19 48628252G> A null A T 247 247 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1315409607 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19q13.33 19 48628255G> A null G R 248 248 missense 0.644 possibly damaging 0.3 tolerated 1 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1254148356 19q13.33 19 48628259C> T null A V 249 249 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ESP,ExAC,TOPMed,gnomAD rs376253681 19q13.33 19 48628269G> C null Q H 252 252 missense 0.001 benign 1.0 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs768800840 19q13.33 19 48628268A> G null Q R 252 252 missense 0.005 benign 0.04 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs921657758 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 48628273G> A null G R 254 254 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs765660290 19q13.33 19 48628276G> A null G S 255 255 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs778540142 19q13.33 19 48630436C> A null P Q 256 256 missense 0.706 possibly damaging 0.26 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs895488838 19q13.33 19 48630439G> A null R Q 257 257 missense 0.0 benign 0.1 tolerated 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1285208378 19q13.33 19 48630441G> A null E K 258 258 missense 0.0 benign 0.02 deleterious 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,gnomAD rs563212714 19q13.33 19 48630451A> G null D G 261 261 2.0E-4 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,TOPMed,gnomAD rs143249693 19q13.33 19 48630456A> G null S G 263 263 2.0E-4 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1199885601 19q13.33 19 48630457G> A null S N 263 263 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs771876216 19q13.33 19 48630459A> G null T A 264 264 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1385546158 19q13.33 19 48630463C> A null S Y 265 265 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1364500062 19q13.33 19 48630466G> A null S N 266 266 missense 0.001 benign 0.05 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1041502164 19q13.33 19 48630472C> T null A V 268 268 missense 0.009 benign 0.03 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1461454041 19q13.33 19 48630475G> T null C F 269 269 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs375196697 19q13.33 19 48630474T> C null C R 269 269 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs902921993 19q13.33 19 48630481T> C null L P 271 271 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1318543641 19q13.33 19 48630485G> C null W C 272 272 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1182627526 19q13.33 19 48630483T> C null W R 272 272 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1023245116 19q13.33 19 48630496G> A null R Q 276 276 missense 0.006 benign 0.02 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1302944914 19q13.33 19 48630495C> T null R W 276 276 missense 0.054 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1000393717 19q13.33 19 48630499G> T null S I 277 277 missense 0.157 benign 0.13 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1157753883 19q13.33 19 48630502G> A null C Y 278 278 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,TOPMed,gnomAD rs2301139 19q13.33 19 48630504C> T null P S 279 279 0.1318 missense 0.998 probably damaging 0.07 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs900115414 19q13.33 19 48630508G> T null R L 280 280 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs900115414 19q13.33 19 48630508G> A null R Q 280 280 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC rs768469496 19q13.33 19 48630513G> C null A P 282 282 missense 0.054 benign 0.1 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1429784237 19q13.33 19 48630517C> A null A D 283 283 missense 0.302 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1237720113 19q13.33 19 48630516G> C null A P 283 283 missense 0.005 benign 0.01 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs1568438065 19q13.33 19 48630519A> C null S R 284 284 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1361544993 19q13.33 19 48630528G> A null G R 287 287 missense 0.047 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs372376366 19q13.33 19 48630550A> T null Q L 294 294 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs372376366 19q13.33 19 48630550A> G null Q R 294 294 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,gnomAD rs528577366 19q13.33 19 48630559C> T null A V 297 297 2.0E-4 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs6413475 19q13.33 19 48630565G> T null G V 299 299 missense 0.801 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1179246936 19q13.33 19 48630571C> G null S * 301 301 missense 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,TOPMed,gnomAD rs547099217 19q13.33 19 48630574G> A null R K 302 302 2.0E-4 missense 0.001 benign 0.03 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,TOPMed,gnomAD rs547099217 19q13.33 19 48630574G> C null R T 302 302 2.0E-4 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs113160409 19q13.33 19 48630588C> T null R C 307 307 missense 0.01 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1179757694 19q13.33 19 48630589G> A null R H 307 307 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1179757694 19q13.33 19 48630589G> T null R L 307 307 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,TOPMed,gnomAD rs571855288 19q13.33 19 48630596C> A null N K 309 309 3.99E-4 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1340708566 19q13.33 19 48630600G> A null G S 311 311 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1163467166 19q13.33 19 48630604G> A null G D 312 312 missense 0.01 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1364165803 19q13.33 19 48630607G> A null G E 313 313 missense 0.747 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs931085719 19q13.33 19 48630614A> G null I M 315 315 missense 0.178 benign 0.66 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,ExAC,TOPMed,gnomAD rs532719113 19q13.33 19 48630613T> C null I T 315 315 7.99E-4 missense 0.058 benign 0.01 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1324260044 19q13.33 19 48630616G> A null G E 316 316 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1396773133 19q13.33 19 48630619C> T null S F 317 317 missense 0.093 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1297258985 19q13.33 19 48630622T> C null L P 318 318 missense 0.131 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs774748906 19q13.33 19 48630628G> T null C F 320 320 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,TOPMed,gnomAD rs774748906 19q13.33 19 48630628G> A null C Y 320 320 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1384338822 19q13.33 19 48630630C> G null R G 321 321 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1246674992 19q13.33 19 48630631G> A null R Q 321 321 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1384338822 19q13.33 19 48630630C> T null R W 321 321 missense 0.052 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs1015657164 19q13.33 19 48630634G> C null G A 322 322 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1357089950 19q13.33 19 48630636C> A null H N 323 323 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1377319225 19q13.33 19 48630642C> T null Q * 325 325 stop gained 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs963098421 19q13.33 19 48630644G> C null Q H 325 325 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1169669176 19q13.33 19 48630643A> G null Q R 325 325 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 ExAC,gnomAD rs759788337 19q13.33 19 48630651C> T null L F 328 328 missense 0.997 probably damaging 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed rs1490936776 19q13.33 19 48630658C> A null A D 330 330 missense 0.009 benign 0.03 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1480449274 19q13.33 19 48630657G> C null A P 330 330 missense 0.077 benign 0.49 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs889984727 19q13.33 19 48630664C> G null A G 332 332 missense 0.018 benign 0.23 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs542756756 19q13.33 19 48630668G> T null R S 333 333 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,TOPMed,gnomAD rs551220086 19q13.33 19 48630671G> C null E D 334 334 2.0E-4 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 1000Genomes,TOPMed,gnomAD rs551220086 19q13.33 19 48630671G> T null E D 334 334 2.0E-4 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs776469382 19q13.33 19 48630673G> C null G A 335 335 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1041653767 19q13.33 19 48630672G> C null G R 335 335 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1041653767 19q13.33 19 48630672G> T null G W 335 335 missense 0.024 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs999498147 19q13.33 19 48630676G> A null G E 336 336 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs999498147 19q13.33 19 48630676G> T null G V 336 336 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs958528192 19q13.33 19 48630678G> A null G S 337 337 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs762019198 19q13.33 19 48630682C> T null S L 338 338 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 gnomAD rs1328833271 19q13.33 19 48630684C> A null L I 339 339 missense 0.99 probably damaging 0.05 tolerated - low confidence 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 TOPMed,gnomAD rs1335427784 19q13.33 19 48630699A> G null I V 344 344 missense 0.003 benign 0 A0A075B7A1 SPHK2 Sphingosine kinase 2 Ensembl rs868373616 19q13.33 19 48630714T> C null C R 349 349 missense 0.0 benign 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1297329721 1q21.1 1 145403274C> A null E * 5 5 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1553665948 1q21.1 1 145403271G> A null R * 6 6 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1553665945 1q21.1 1 145403270C> T null R Q 6 6 missense 0.024 benign 0.1 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1553665940 1q21.1 1 145403266C> A null Q H 7 7 missense 0.77 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1242401537 1q21.1 1 145403258T> C null E G 10 10 missense 0.06 benign 0.22 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1188012740 1q21.1 1 145403254C> A null E D 11 11 missense 0.775 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1553665932 1q21.1 1 145403252T> A null K M 12 12 missense 0.973 probably damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1169925939 1q21.1 1 145403251C> G null K N 12 12 missense 0.306 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1470970870 1q21.1 1 145403241G> C null Q E 16 16 missense 0.031 benign 0.18 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1553665929 1q21.1 1 145403239C> G null Q H 16 16 missense 0.916 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1436339530 1q21.1 1 145403234T> C null K R 18 18 missense 0.018 benign 0.53 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1290983248 1q21.1 1 145403226C> A null E * 21 21 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1359509126 1q21.1 1 145403225T> C null E G 21 21 missense 0.023 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1325099408 1q21.1 1 145403216C> T null R K 24 24 missense 0.237 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1409803698 1q21.1 1 145402376T> C null Y C 26 26 missense 0.34 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1326166781 1q21.1 1 145402359C> A null A S 32 32 missense 0.01 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1326166781 1q21.1 1 145402359C> T null A T 32 32 missense 0.145 benign 0.07 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1329838605 1q21.1 1 145402356G> A null Q * 33 33 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1233071337 1q21.1 1 145402353C> G null E Q 34 34 missense 0.759 possibly damaging 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1280513006 1q21.1 1 145402350G> A null R * 35 35 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1356233087 1q21.1 1 145402349C> T null R Q 35 35 missense 0.249 benign 0.07 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1237541043 1q21.1 1 145402347C> T null E K 36 36 missense 0.55 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1284820646 1q21.1 1 145402341T> C null T A 38 38 missense 0.108 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553665620 1q21.1 1 145402338G> A null Q * 39 39 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1211086803 1q21.1 1 145402325T> G null K T 43 43 missense 0.376 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1182364690 1q21.1 1 145402319C> T null R Q 45 45 missense 0.034 benign 0.21 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1450967852 1q21.1 1 145402320G> A null R W 45 45 missense 0.093 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1234416362 1q21.1 1 145402314C> T null G R 47 47 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1437545414 1q21.1 1 145402311T> C null R G 48 48 missense 0.941 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1157122722 1q21.1 1 145402308C> T null D N 49 49 missense 0.07 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1425441378 1q21.1 1 145402305C> T null A T 50 50 missense 0.449 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1165067321 1q21.1 1 145402304G> A null A V 50 50 missense 0.151 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1386722745 1q21.1 1 145402299G> A null R C 52 52 missense 0.024 benign 0.23 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1330089777 1q21.1 1 145402298C> T null R H 52 52 missense 0.042 benign 0.54 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1330089777 1q21.1 1 145402298C> A null R L 52 52 missense 0.059 benign 0.61 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1444989608 1q21.1 1 145402295G> A null S L 53 53 missense 0.031 benign 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1308144930 1q21.1 1 145402290T> C null N D 55 55 missense 0.063 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1383055531 1q21.1 1 145402288A> C null N K 55 55 missense 0.056 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1196339572 1q21.1 1 145402284G> C null H D 57 57 missense 0.757 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1196339572 1q21.1 1 145402284G> A null H Y 57 57 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1259874505 1q21.1 1 145402281G> C null L V 58 58 missense 0.444 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1456311083 1q21.1 1 145402277T> G null Q P 59 59 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1237870529 1q21.1 1 145402274G> A null A V 60 60 missense 0.45 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1445478073 1q21.1 1 145402272G> A null L F 61 61 missense 0.747 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1189813550 1q21.1 1 145402269G> C null L V 62 62 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1403057724 1q21.1 1 145402262G> A null P L 64 64 missense 0.183 benign 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1407225779 1q21.1 1 145402259T> C null D G 65 65 missense 0.939 probably damaging 0.07 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1331091705 1q21.1 1 145402260C> A null D Y 65 65 missense 0.347 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1310083835 1q21.1 1 145402257C> T null E K 66 66 missense 0.32 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1310083835 1q21.1 1 145402257C> G null E Q 66 66 missense 0.544 possibly damaging 0.05 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1339405681 1q21.1 1 145402254G> A null P S 67 67 missense 0.321 benign 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1315980260 1q21.1 1 145402249G> C null D E 68 68 missense 0.839 possibly damaging 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1315980260 1q21.1 1 145402249G> T null D E 68 68 missense 0.839 possibly damaging 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1197856610 1q21.1 1 145402242G> A null Q * 71 71 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1263547824 1q21.1 1 145402239C> A null G W 72 72 missense 0.317 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1254304259 1q21.1 1 145402233C> T null D N 74 74 missense 0.977 probably damaging 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1423373412 1q21.1 1 145402230G> T null L I 75 75 missense 0.421 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs201337252 1q21.1 1 145402227G> T null Q K 76 76 missense 0.561 possibly damaging 0.05 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1194463942 1q21.1 1 145402215C> G null A P 80 80 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1477131120 1q21.1 1 145402208C> T null G E 82 82 missense 0.747 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1170531183 1q21.1 1 145402203T> C null R G 84 84 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1407338412 1q21.1 1 145402197C> T null A T 86 86 missense 0.254 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1467871688 1q21.1 1 145402193T> C null Q R 87 87 missense 0.748 possibly damaging 0.3 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1300765181 1q21.1 1 145402185C> T null V I 90 90 missense 0.172 benign 0.13 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1401031995 1q21.1 1 145402179T> C null K E 92 92 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1382359124 1q21.1 1 145402177C> A null K N 92 92 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1191318562 1q21.1 1 145401124G> T null D E 98 98 missense 0.202 benign 0.12 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1393995622 1q21.1 1 145401122T> A null N I 99 99 missense 0.536 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1361992438 1q21.1 1 145401115G> C null D E 101 101 missense 0.028 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553540987 1q21.1 1 145401117C> G null D H 101 101 missense 0.033 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1452886089 1q21.1 1 145401114C> T null D N 102 102 missense 0.168 benign 0.15 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1293910698 1q21.1 1 145401113T> A null D V 102 102 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1396352780 1q21.1 1 145401109T> A null E D 103 103 missense 0.03 benign 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1443425687 1q21.1 1 145401108C> T null D N 104 104 missense 0.279 benign 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1370409249 1q21.1 1 145401096C> G null E Q 108 108 missense 0.612 possibly damaging 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1224400434 1q21.1 1 145401093A> C null L V 109 109 missense 0.003 benign 0.19 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1309147990 1q21.1 1 145401083T> C null K R 112 112 missense 0.248 benign 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1315669033 1q21.1 1 145401080A> C null V G 113 113 missense 0.124 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1238893790 1q21.1 1 145401074T> G null K T 115 115 missense 0.061 benign 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1274232004 1q21.1 1 145401071G> A null S L 116 116 missense 0.183 benign 0.19 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1251972266 1q21.1 1 145401066C> A null A S 118 118 missense 0.098 benign 0.05 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1178437859 1q21.1 1 145401063G> C null P A 119 119 missense 0.814 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1247734389 1q21.1 1 145401062G> T null P H 119 119 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1178437859 1q21.1 1 145401063G> A null P S 119 119 missense 0.386 benign 0.14 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1377001084 1q21.1 1 145400591C> G null E D 121 121 missense 0.279 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553665074 1q21.1 1 145400587G> A null Q * 123 123 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1553665070 1q21.1 1 145400586T> A null Q L 123 123 missense 0.155 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1553665070 1q21.1 1 145400586T> G null Q P 123 123 missense 0.054 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1382461529 1q21.1 1 145400580G> T null A D 125 125 missense 0.154 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1433220737 1q21.1 1 145400571T> C null K R 128 128 missense 0.096 benign 0.1 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1299202444 1q21.1 1 145400563G> A null P S 131 131 missense 0.279 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1262903554 1q21.1 1 145400553G> C null S * 134 134 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs520285 1q21.1 1 145400550T> A null Q L 135 135 missense 0.0 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1253230854 1q21.1 1 145400548C> G null E Q 136 136 missense 0.439 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1188964546 1q21.1 1 145400544T> G null E A 137 137 missense 0.653 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1469477669 1q21.1 1 145400545C> T null E K 137 137 missense 0.859 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1419632647 1q21.1 1 145400541C> T null C Y 138 138 missense 0.132 benign 0.13 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1553665043 1q21.1 1 145400529T> C null Y C 142 142 missense 0.003 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1395502894 1q21.1 1 145400520C> A null S I 145 145 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1395502894 1q21.1 1 145400520C> T null S N 145 145 missense 0.939 probably damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1463160635 1q21.1 1 145400518G> A null H Y 146 146 missense 0.942 probably damaging 0.1 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1291887368 1q21.1 1 145400514C> T null G D 147 147 missense 0.204 benign 0.44 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs878896072 1q21.1 1 145400512G> A null P S 148 148 missense 0.044 benign 0.2 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1309766140 1q21.1 1 145400505T> A null D V 150 150 missense 0.908 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1349087196 1q21.1 1 145400502G> C null S C 151 151 missense 0.062 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1349087196 1q21.1 1 145400502G> A null S F 151 151 missense 0.859 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1228167302 1q21.1 1 145400499T> A null N I 152 152 missense 0.706 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1264392690 1q21.1 1 145400487C> T null R K 156 156 missense 0.051 benign 0.2 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1480661329 1q21.1 1 145400484T> C null K R 157 157 missense 0.57 possibly damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1178939474 1q21.1 1 145400481G> T null T N 158 158 missense 0.202 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553665024 1q21.1 1 145400473T> G null T P 161 161 missense 0.974 probably damaging 0.05 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1249526157 1q21.1 1 145400469A> C null F C 162 162 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1188409706 1q21.1 1 145400466T> C null E G 163 163 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1425816554 1q21.1 1 145400460T> C null D G 165 165 missense 0.853 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1162913742 1q21.1 1 145400457T> A null K I 166 166 missense 0.81 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1349425119 1q21.1 1 145400455C> G null V L 167 167 missense 0.166 benign 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1369256336 1q21.1 1 145400450G> C null D E 168 168 missense 0.636 possibly damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1462554991 1q21.1 1 145400452C> T null D N 168 168 missense 0.07 benign 0.17 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1409698530 1q21.1 1 145400448G> C null S * 169 169 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1553665010 1q21.1 1 145400446T> C null T A 170 170 missense 0.13 benign 0.45 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1357723307 1q21.1 1 145400445G> A null T I 170 170 missense 0.754 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1553665010 1q21.1 1 145400446T> G null T P 170 170 missense 0.073 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1311554020 1q21.1 1 145400437C> T null G S 173 173 missense 0.467 possibly damaging 0.48 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1271789248 1q21.1 1 145400430G> C null S C 175 175 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1271789248 1q21.1 1 145400430G> A null S F 175 175 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs79004754 1q21.1 1 145400428A> G null S P 176 176 missense 0.127 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1259407882 1q21.1 1 145400424T> A null H L 177 177 missense 0.62 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1482143395 1q21.1 1 145400422C> T null V I 178 178 missense 0.021 benign 0.39 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1180402837 1q21.1 1 145400416A> T null W R 180 180 missense 0.029 benign 0.14 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1429277536 1q21.1 1 145400410C> T null D N 182 182 missense 0.939 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1170587554 1q21.1 1 145400409T> A null D V 182 182 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1388357973 1q21.1 1 145400404C> G null V L 184 184 missense 0.02 benign 0.77 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1553664991 1q21.1 1 145400393A> C null I M 187 187 missense 0.823 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1407196631 1q21.1 1 145399085T> A null D V 194 194 missense 0.805 possibly damaging 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1405383264 1q21.1 1 145399083C> T null E K 195 195 missense 0.808 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1164939648 1q21.1 1 145399070T> C null E G 199 199 missense 0.668 possibly damaging 0.59 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1423594876 1q21.1 1 145399068T> C null K E 200 200 missense 0.13 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1308313812 1q21.1 1 145399061G> T null P Q 202 202 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1336697389 1q21.1 1 145399059C> T null V M 203 203 missense 0.835 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553663478 1q21.1 1 145395116C> T null E K 215 215 missense 0.953 probably damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1433403546 1q21.1 1 145395112A> T null V D 216 216 missense 0.947 probably damaging 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553663477 1q21.1 1 145395113C> T null V I 216 216 missense 0.712 possibly damaging 0.05 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1219870005 1q21.1 1 145395100G> A null S F 220 220 missense 0.221 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1265105016 1q21.1 1 145395089C> G null G R 224 224 missense 0.749 possibly damaging 0.36 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1268464771 1q21.1 1 145395082G> A null S L 226 226 missense 0.045 benign 0.85 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1190840971 1q21.1 1 145395079G> A null T I 227 227 missense 0.996 probably damaging 0.05 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1241416212 1q21.1 1 145395077G> C null L V 228 228 missense 0.166 benign 0.51 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1426627614 1q21.1 1 145395067G> A null P L 231 231 missense 0.66 possibly damaging 0.57 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1479865910 1q21.1 1 145395062C> A null E * 233 233 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1345067372 1q21.1 1 145395057C> T null M I 234 234 missense 0.052 benign 0.12 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1345067372 1q21.1 1 145395057C> A null M I 234 234 missense 0.052 benign 0.12 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1402776346 1q21.1 1 145395058A> T null M K 234 234 missense 0.109 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1402776346 1q21.1 1 145395058A> C null M R 234 234 missense 0.037 benign 0.07 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1159431090 1q21.1 1 145395059T> C null M V 234 234 missense 0.171 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1285199461 1q21.1 1 145395053C> T null A T 236 236 missense 0.967 probably damaging 0.72 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1343737832 1q21.1 1 145395052G> A null A V 236 236 missense 0.805 possibly damaging 0.29 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1223043054 1q21.1 1 145395049G> A null S L 237 237 missense 0.509 possibly damaging 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1203136804 1q21.1 1 145395042C> G null Q H 239 239 missense 0.978 probably damaging 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1553539958 1q21.1 1 145395044G> T null Q K 239 239 missense 0.085 benign 0.17 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1283317128 1q21.1 1 145395038A> C null Y D 241 241 missense 0.346 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1452066014 1q21.1 1 145395035T> C null S G 242 242 missense 0.923 probably damaging 0.29 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553663457 1q21.1 1 145395032T> C null S G 243 243 missense 0.14 benign 0.25 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1224629112 1q21.1 1 145395028G> A null T I 244 244 missense 0.923 probably damaging 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1365163630 1q21.1 1 145395022T> A null H L 246 246 missense 0.965 probably damaging 0.71 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1365163630 1q21.1 1 145395022T> C null H R 246 246 missense 0.983 probably damaging 0.33 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1479823289 1q21.1 1 145395023G> A null H Y 246 246 missense 0.493 possibly damaging 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1157152113 1q21.1 1 145395008G> T null Q K 251 251 missense 0.673 possibly damaging 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1406402406 1q21.1 1 145394994C> T null M I 255 255 missense 0.403 benign 0.36 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1407721604 1q21.1 1 145394995A> G null M T 255 255 missense 0.82 possibly damaging 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1305477321 1q21.1 1 145394992G> T null A D 256 256 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1404376091 1q21.1 1 145394987C> T null D N 258 258 missense 0.881 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1163594221 1q21.1 1 145393935C> T null R K 261 261 missense 0.203 benign 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1163594221 1q21.1 1 145393935C> G null R T 261 261 missense 0.614 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1466421976 1q21.1 1 145393932T> C null H R 262 262 missense 0.962 probably damaging 0.37 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs1423955519 1q21.1 1 145393933G> A null H Y 262 262 missense 0.259 benign 0.95 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1398652897 1q21.1 1 145393929C> T null R Q 263 263 missense 0.18 benign 0.31 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1173311545 1q21.1 1 145393930G> A null R W 263 263 missense 0.018 benign 0.35 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1381430165 1q21.1 1 145393925C> G null W C 264 264 missense 0.017 benign 0.39 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1303986556 1q21.1 1 145393926C> A null W L 264 264 missense 0.62 possibly damaging 0.71 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1292885353 1q21.1 1 145393923T> C null D G 265 265 missense 0.977 probably damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1553250149 1q21.1 1 145393924C> G null D H 265 265 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1553250149 1q21.1 1 145393924C> T null D N 265 265 missense 0.653 possibly damaging 0.22 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs199517854 1q21.1 1 145393921G> C null Q E 266 266 missense 0.493 possibly damaging 0.46 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1220197628 1q21.1 1 145393920T> C null Q R 266 266 missense 0.912 probably damaging 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553663008 1q21.1 1 145393917A> C null V G 267 267 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553663002 1q21.1 1 145393910C> G null K N 269 269 missense 0.994 probably damaging 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1317163806 1q21.1 1 145393912T> G null K Q 269 269 missense 0.989 probably damaging 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1481975712 1q21.1 1 145393904G> T null D E 271 271 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1210722347 1q21.1 1 145393906C> T null D N 271 271 missense 0.969 probably damaging 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1180794017 1q21.1 1 145393903G> C null Q E 272 272 missense 0.072 benign 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553662998 1q21.1 1 145393902T> C null Q R 272 272 missense 0.115 benign 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1263401465 1q21.1 1 145393900C> G null E Q 273 273 missense 0.917 probably damaging 0.17 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1421913426 1q21.1 1 145393896G> T null A E 274 274 missense 0.806 possibly damaging 0.19 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1421913426 1q21.1 1 145393896G> C null A G 274 274 missense 0.912 probably damaging 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1478599218 1q21.1 1 145393897C> T null A T 274 274 missense 0.545 possibly damaging 0.47 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553662991 1q21.1 1 145393893G> C null T R 275 275 missense 0.404 benign 0.32 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1177389127 1q21.1 1 145393891C> A null G C 276 276 missense 0.304 benign 0.29 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1177389127 1q21.1 1 145393891C> T null G S 276 276 missense 0.484 possibly damaging 0.54 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553662987 1q21.1 1 145393890C> A null G V 276 276 missense 0.941 probably damaging 0.18 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1464567812 1q21.1 1 145393888G> A null P S 277 277 missense 0.13 benign 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1402096918 1q21.1 1 145393884C> G null R T 278 278 missense 0.442 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661986 1q21.1 1 145388429A> T null C S 299 299 missense 0.885 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs200788872 1q21.1 1 145388390A> G null S P 312 312 missense 0.947 probably damaging 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs199836924 1q21.1 1 145388365A> C null F C 320 320 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs61810210 1q21.1 1 145388345G> A null R C 327 327 missense 0.954 probably damaging 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs200900280 1q21.1 1 145388323A> G null M T 334 334 missense 0.62 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661911 1q21.1 1 145387589T> C null K R 339 339 missense 0.646 possibly damaging 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553660261 1q21.1 1 145368587T> C null K R 339 339 missense 0.646 possibly damaging 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661907 1q21.1 1 145387586T> C null Y C 340 340 missense 0.992 probably damaging 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782198355 1q21.1 1 145368582G> C null Q E 341 341 missense 0.051 benign 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782352406 1q21.1 1 145387584G> T null Q K 341 341 missense 0.084 benign 0.1 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782198355 1q21.1 1 145368582G> T null Q K 341 341 missense 0.084 benign 0.1 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1553660258 1q21.1 1 145368575A> G null V A 343 343 missense 0.5 possibly damaging 0.21 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661900 1q21.1 1 145387577A> T null V E 343 343 missense 0.108 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661900 1q21.1 1 145387577A> C null V G 343 343 missense 0.029 benign 0.1 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782210565 1q21.1 1 145387562T> C null D G 348 348 missense 0.038 benign 0.55 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661890 1q21.1 1 145387563C> T null D N 348 348 missense 0.219 benign 0.42 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661887 1q21.1 1 145387559G> T null P Q 349 349 missense 1.0 probably damaging 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661882 1q21.1 1 145387556G> C null S * 350 350 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781992919 1q21.1 1 145387557A> G null S P 350 350 missense 0.025 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661870 1q21.1 1 145387550G> A null P L 352 352 missense 0.851 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661872 1q21.1 1 145387551G> A null P S 352 352 missense 0.803 possibly damaging 0.07 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661757 1q21.1 1 145386875G> A null T I 377 377 missense 0.702 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553660077 1q21.1 1 145358352G> A null T I 377 377 missense 0.702 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661756 1q21.1 1 145386829G> T null S R 392 392 missense 0.0 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553660074 1q21.1 1 145358306G> T null S R 392 392 missense 0.0 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553660073 1q21.1 1 145358296A> G null Y H 396 396 missense 0.607 possibly damaging 0.12 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553661747 1q21.1 1 145386819A> G null Y H 396 396 missense 0.607 possibly damaging 0.12 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs201505058 1q21.1 1 145386816A> C null S A 397 397 missense 0.007 benign 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs201505058 1q21.1 1 145386816A> T null S T 397 397 missense 0.014 benign 0.1 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs200683178 1q21.1 1 145386801A> G null Y H 402 402 missense 0.063 benign 0.74 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553661740 1q21.1 1 145386779A> G null V A 409 409 missense 0.007 benign 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782456639 1q21.1 1 145386061G> A null T I 412 412 missense 0.0 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782456639 1q21.1 1 145386061G> C null T S 412 412 missense 0.033 benign 0.27 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661711 1q21.1 1 145386052T> C null D G 415 415 missense 0.031 benign 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661705 1q21.1 1 145386050G> A null Q * 416 416 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661705 1q21.1 1 145386050G> C null Q E 416 416 missense 0.0 benign 0.19 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661702 1q21.1 1 145386043T> C null E G 418 418 missense 0.031 benign 0.21 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782188110 1q21.1 1 145386028C> T null G D 423 423 missense 0.0 benign 0.51 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661686 1q21.1 1 145386016G> C null P R 427 427 missense 0.904 possibly damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661688 1q21.1 1 145386017G> A null P S 427 427 missense 0.803 possibly damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661510 1q21.1 1 145385350G> C null L V 434 434 missense 0.567 possibly damaging 0.12 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661508 1q21.1 1 145385345C> A null E D 435 435 missense 0.0 benign 0.12 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782555726 1q21.1 1 145385343A> G null V A 436 436 missense 0.007 benign 0.48 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781890432 1q21.1 1 145385340A> G null V A 437 437 missense 0.007 benign 0.49 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661504 1q21.1 1 145385341C> T null V I 437 437 missense 0.019 benign 0.42 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661488 1q21.1 1 145385337T> G null E A 438 438 missense 0.486 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661482 1q21.1 1 145385335G> C null P A 439 439 missense 0.728 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661482 1q21.1 1 145385335G> T null P T 439 439 missense 0.803 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661473 1q21.1 1 145385328A> G null V A 441 441 missense 0.294 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661479 1q21.1 1 145385329C> T null V I 441 441 missense 0.198 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661465 1q21.1 1 145385324C> G null L F 442 442 missense 0.765 possibly damaging 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782695335 1q21.1 1 145385322T> A null Q L 443 443 missense 0.145 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661462 1q21.1 1 145385309A> T null D E 447 447 missense 0.621 possibly damaging 0.22 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661459 1q21.1 1 145385296T> C null T A 452 452 missense 0.388 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661456 1q21.1 1 145385295G> A null T I 452 452 missense 0.702 possibly damaging 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782098654 1q21.1 1 145385280A> G null L P 457 457 missense 0.883 possibly damaging 0.05 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661451 1q21.1 1 145385275G> T null Q K 459 459 missense 0.013 benign 0.73 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661448 1q21.1 1 145385265G> A null S F 462 462 missense 0.683 possibly damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661448 1q21.1 1 145385265G> T null S Y 462 462 missense 0.781 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661446 1q21.1 1 145385261G> C null C W 463 463 missense 0.827 possibly damaging 0.17 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781819523 1q21.1 1 145385259T> A null Q L 464 464 missense 0.145 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661439 1q21.1 1 145385248T> A null S C 468 468 missense 0.843 possibly damaging 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661436 1q21.1 1 145385247C> A null S I 468 468 missense 0.607 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661435 1q21.1 1 145385240A> C null F L 470 470 missense 0.916 probably damaging 0.33 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1210091556 1q21.1 1 145351958G> A null A V 472 472 missense 0.015 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661433 1q21.1 1 145385235G> A null A V 472 472 missense 0.015 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661426 1q21.1 1 145385227C> T null E K 475 475 missense 0.058 benign 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661424 1q21.1 1 145385220T> A null H L 477 477 missense 0.011 benign 0.26 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661423 1q21.1 1 145385217A> G null V A 478 478 missense 0.294 benign 0.15 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661419 1q21.1 1 145385211A> C null F C 480 480 missense 0.202 benign 0.05 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661417 1q21.1 1 145385206G> C null L V 482 482 missense 0.0 benign 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661416 1q21.1 1 145385203C> T null D N 483 483 missense 0.728 possibly damaging 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661414 1q21.1 1 145385199A> T null V E 484 484 missense 0.047 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1192199880 1q21.1 1 145351923C> T null V M 484 484 missense 0.001 benign 0.1 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661415 1q21.1 1 145385200C> T null V M 484 484 missense 0.001 benign 0.1 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553661408 1q21.1 1 145385196C> T null G E 485 485 missense 0.031 benign 0.27 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553659930 1q21.1 1 145350392G> A null T I 546 546 missense 0.0 unknown 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553659927 1q21.1 1 145350346T> G null R S 561 561 missense 0.0 unknown 0.33 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553659925 1q21.1 1 145350336A> G null Y H 565 565 missense 0.0 unknown 0.19 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1384435952 1q21.1 1 145378089C> A null E * 582 582 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1313931608 1q21.1 1 145378087T> G null E D 582 582 missense 0.503 possibly damaging 0.24 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1243248460 1q21.1 1 145378088T> C null E G 582 582 missense 0.503 possibly damaging 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1359123089 1q21.1 1 145378086T> C null K E 583 583 missense 0.486 possibly damaging 0.91 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553661161 1q21.1 1 145378080G> T null Q K 585 585 missense 0.092 benign 0.27 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1253500671 1q21.1 1 145378064T> C null D G 590 590 missense 0.413 benign 0.19 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1195791594 1q21.1 1 145378057G> T null D E 592 592 missense 0.621 possibly damaging 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1256933099 1q21.1 1 145378055G> A null P L 593 593 missense 0.518 possibly damaging 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1181900783 1q21.1 1 145378052G> A null S L 594 594 missense 0.013 benign 0.47 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1450380623 1q21.1 1 145378046G> C null P R 596 596 missense 0.6 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553660038 1q21.1 1 145354321G> T null Q K 660 660 missense 0.092 benign 0.3 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1202722574 1q21.1 1 145316229C> A null D Y 665 665 missense 0.934 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553660029 1q21.1 1 145353604G> A null T I 696 696 missense 0.17 benign 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553660027 1q21.1 1 145353558G> T null S R 711 711 missense 0.027 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553660024 1q21.1 1 145353548A> G null Y H 715 715 missense 0.571 possibly damaging 0.13 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1558964593 1q21.1 1 145298835G> A null T I 731 731 missense 0.006 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1558964587 1q21.1 1 145298824G> C null Q E 735 735 missense 0.014 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553659055 1q21.1 1 145298802C> T null G D 742 742 missense 0.034 benign 0.82 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553658982 1q21.1 1 145298118G> C null L V 753 753 missense 0.106 benign 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1342929556 1q21.1 1 145337786A> G null V A 755 755 missense 0.066 benign 0.27 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553658980 1q21.1 1 145298111A> G null V A 755 755 missense 0.066 benign 0.27 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553658975 1q21.1 1 145298108A> G null V A 756 756 missense 0.18 benign 0.2 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1218762825 1q21.1 1 145337783A> G null V A 756 756 missense 0.18 benign 0.2 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1285215016 1q21.1 1 145337765T> A null Q L 762 762 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1181582678 1q21.1 1 145298074T> A null R S 767 767 missense 0.818 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1369449987 1q21.1 1 145298046C> G null E Q 777 777 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1476461018 1q21.1 1 145298039G> A null P L 779 779 missense 0.074 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1331565665 1q21.1 1 145337702T> A null Q L 783 783 missense 0.058 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553658966 1q21.1 1 145298008A> C null F L 789 789 missense 0.035 benign 0.69 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1393743478 1q21.1 1 145297986C> T null V I 797 797 missense 0.268 benign 0.23 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1300063291 1q21.1 1 145297979A> T null F Y 799 799 missense 0.884 possibly damaging 0.21 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1391077964 1q21.1 1 145297976G> A null S F 800 800 missense 0.926 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1357194614 1q21.1 1 145297968C> T null V M 803 803 missense 0.344 benign 0.12 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1231370789 1q21.1 1 145297964C> T null G E 804 804 missense 0.12 benign 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1558964206 1q21.1 1 145297154T> G null N T 836 836 missense 0.583 possibly damaging 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs376913027 1q21.1 1 145291769C> A null R S 841 841 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782687091 1q21.1 1 145291768G> A null L F 842 842 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782534618 1q21.1 1 145291767A> G null L P 842 842 missense 0.901 possibly damaging 0.07 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657771 1q21.1 1 145291765T> G null N H 843 843 missense 0.622 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs77130214 1q21.1 1 145291764T> C null N S 843 843 missense 0.006 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs1142502 1q21.1 1 145291762C> A null G C 844 844 missense 0.825 possibly damaging 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs1142502 1q21.1 1 145291762C> T null G S 844 844 missense 0.013 benign 0.38 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs370593001 1q21.1 1 145291761C> A null G V 844 844 missense 0.455 possibly damaging 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200471641 1q21.1 1 145291759C> G null V L 845 845 3.99E-4 missense 0.057 benign 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200471641 1q21.1 1 145291759C> A null V L 845 845 3.99E-4 missense 0.057 benign 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200471641 1q21.1 1 145291759C> T null V M 845 845 3.99E-4 missense 0.024 benign 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374140805 1q21.1 1 145291756G> T null L M 846 846 0.001997 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657756 1q21.1 1 145291755A> G null L P 846 846 missense 0.185 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374140805 1q21.1 1 145291756G> C null L V 846 846 0.001997 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs369725489 1q21.1 1 145291751C> T null M I 847 847 missense 0.059 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs369725489 1q21.1 1 145291751C> A null M I 847 847 missense 0.059 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587735662 1q21.1 1 145291753T> A null M L 847 847 0.001198 missense 0.001 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587666547 1q21.1 1 145291752A> C null M R 847 847 3.99E-4 missense 0.5 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587666547 1q21.1 1 145291752A> G null M T 847 847 3.99E-4 missense 0.171 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587735662 1q21.1 1 145291753T> C null M V 847 847 0.001198 missense 0.007 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1406705921 1q21.1 1 145291750C> A null E * 848 848 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1321126507 1q21.1 1 145291749T> G null E A 848 848 missense 0.423 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782698543 1q21.1 1 145291748T> A null E D 848 848 missense 0.025 benign 0.26 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782698543 1q21.1 1 145291748T> G null E D 848 848 missense 0.025 benign 0.26 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1321126507 1q21.1 1 145291749T> A null E V 848 848 missense 0.761 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781784160 1q21.1 1 145291746A> G null V A 849 849 missense 0.006 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782535497 1q21.1 1 145291747C> G null V L 849 849 missense 0.185 benign 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782535497 1q21.1 1 145291747C> A null V L 849 849 missense 0.185 benign 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376765079 1q21.1 1 145291744C> A null E * 850 850 2.0E-4 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376765079 1q21.1 1 145291744C> T null E K 850 850 2.0E-4 missense 0.012 benign 0.31 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376765079 1q21.1 1 145291744C> G null E Q 850 850 2.0E-4 missense 0.037 benign 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657742 1q21.1 1 145291743T> A null E V 850 850 missense 0.012 benign 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs374505350 1q21.1 1 145291739C> A null E D 851 851 0.002196 missense 0.263 benign 0.05 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs202158625 1q21.1 1 145291740T> C null E G 851 851 missense 0.17 benign 0.15 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587758812 1q21.1 1 145291741C> T null E K 851 851 3.99E-4 missense 0.939 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs202158625 1q21.1 1 145291740T> A null E V 851 851 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782641133 1q21.1 1 145291737G> A null P L 852 852 missense 0.219 benign 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782641133 1q21.1 1 145291737G> C null P R 852 852 missense 0.03 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782265809 1q21.1 1 145291738G> A null P S 852 852 missense 0.492 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782265809 1q21.1 1 145291738G> T null P T 852 852 missense 0.736 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782282072 1q21.1 1 145291734T> G null E A 853 853 missense 0.644 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782282072 1q21.1 1 145291734T> A null E V 853 853 missense 0.236 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1160959458 1q21.1 1 145291731A> C null V G 854 854 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782582783 1q21.1 1 145291732C> T null V I 854 854 missense 0.396 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657730 1q21.1 1 145291728A> T null L * 855 855 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782645847 1q21.1 1 145291727T> A null L F 855 855 missense 0.964 probably damaging 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657733 1q21.1 1 145291729A> T null L I 855 855 missense 0.67 possibly damaging 0.07 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1445071735 1q21.1 1 145291726G> A null Q * 856 856 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1445071735 1q21.1 1 145291726G> C null Q E 856 856 missense 0.306 benign 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782795090 1q21.1 1 145291724C> G null Q H 856 856 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782795090 1q21.1 1 145291724C> A null Q H 856 856 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781900543 1q21.1 1 145291725T> A null Q L 856 856 missense 0.155 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781900543 1q21.1 1 145291725T> G null Q P 856 856 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781900543 1q21.1 1 145291725T> C null Q R 856 856 missense 0.155 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1355898336 1q21.1 1 145291722T> G null D A 857 857 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781791342 1q21.1 1 145291721G> C null D E 857 857 missense 0.55 possibly damaging 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782446247 1q21.1 1 145291723C> G null D H 857 857 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782446247 1q21.1 1 145291723C> T null D N 857 857 missense 0.498 possibly damaging 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782446247 1q21.1 1 145291723C> A null D Y 857 857 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782739503 1q21.1 1 145291719G> T null S * 858 858 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782739503 1q21.1 1 145291719G> A null S L 858 858 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1456246094 1q21.1 1 145291717G> C null L V 859 859 missense 0.55 possibly damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657720 1q21.1 1 145291713T> C null D G 860 860 missense 0.396 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1243615397 1q21.1 1 145291714C> G null D H 860 860 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1243615397 1q21.1 1 145291714C> T null D N 860 860 missense 0.279 benign 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1243615397 1q21.1 1 145291714C> A null D Y 860 860 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782769929 1q21.1 1 145291711C> A null G * 861 861 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782027126 1q21.1 1 145291710C> G null G A 861 861 missense 0.1 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782769929 1q21.1 1 145291711C> T null G R 861 861 missense 0.001 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782027126 1q21.1 1 145291710C> A null G V 861 861 missense 0.062 benign 0.05 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782217993 1q21.1 1 145291707C> A null C F 862 862 missense 0.039 benign 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1421052189 1q21.1 1 145291708A> G null C R 862 862 missense 0.031 benign 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781947573 1q21.1 1 145291706A> C null C W 862 862 missense 0.936 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782217993 1q21.1 1 145291707C> T null C Y 862 862 missense 0.031 benign 0.13 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1331104546 1q21.1 1 145291704T> A null Y F 863 863 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782379518 1q21.1 1 145291705A> G null Y H 863 863 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587732837 1q21.1 1 145291701G> C null S C 864 864 2.0E-4 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587732837 1q21.1 1 145291701G> A null S F 864 864 2.0E-4 missense 0.846 possibly damaging 0.15 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200928669 1q21.1 1 145291699T> C null T A 865 865 0.01318 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs371651002 1q21.1 1 145291698G> C null T S 865 865 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200928669 1q21.1 1 145291699T> A null T S 865 865 0.01318 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782075492 1q21.1 1 145291695G> A null P L 866 866 missense 0.746 possibly damaging 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782075492 1q21.1 1 145291695G> T null P Q 866 866 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782075492 1q21.1 1 145291695G> C null P R 866 866 missense 0.365 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782499352 1q21.1 1 145291696G> A null P S 866 866 missense 0.155 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782125276 1q21.1 1 145291692G> C null S * 867 867 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782125276 1q21.1 1 145291692G> A null S L 867 867 missense 0.091 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782311009 1q21.1 1 145291688C> A null M I 868 868 missense 0.007 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782311009 1q21.1 1 145291688C> T null M I 868 868 missense 0.007 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782277333 1q21.1 1 145291690T> A null M L 868 868 missense 0.001 benign 0.41 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1558960437 1q21.1 1 145291689A> G null M T 868 868 missense 0.001 benign 0.31 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782277333 1q21.1 1 145291690T> C null M V 868 868 missense 0.007 benign 0.95 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782609540 1q21.1 1 145291685G> C null Y * 869 869 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782233838 1q21.1 1 145291686T> C null Y C 869 869 missense 0.049 benign 0.18 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782515750 1q21.1 1 145291683A> T null F Y 870 870 missense 0.037 benign 0.31 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,gnomAD rs587602375 1q21.1 1 145291679T> G null E D 871 871 7.99E-4 missense 0.076 benign 0.28 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657693 1q21.1 1 145291681C> T null E K 871 871 missense 0.561 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782245518 1q21.1 1 145291680T> A null E V 871 871 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782575054 1q21.1 1 145291677A> G null L P 872 872 missense 0.347 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782575054 1q21.1 1 145291677A> T null L Q 872 872 missense 0.615 possibly damaging 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs372660869 1q21.1 1 145291678G> C null L V 872 872 missense 0.396 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782773208 1q21.1 1 145291675G> C null P A 873 873 missense 0.406 benign 0.15 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782154588 1q21.1 1 145291674G> C null P R 873 873 missense 0.049 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782773208 1q21.1 1 145291675G> A null P S 873 873 missense 0.143 benign 0.22 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782703671 1q21.1 1 145291671T> G null D A 874 874 missense 0.209 benign 0.12 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782051852 1q21.1 1 145291670G> C null D E 874 874 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781885292 1q21.1 1 145291672C> T null D N 874 874 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782703671 1q21.1 1 145291671T> A null D V 874 874 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781885292 1q21.1 1 145291672C> A null D Y 874 874 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657680 1q21.1 1 145291668G> C null S * 875 875 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781971524 1q21.1 1 145291669A> C null S A 875 875 missense 0.197 benign 0.59 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781971524 1q21.1 1 145291669A> G null S P 875 875 missense 0.837 possibly damaging 0.14 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782437880 1q21.1 1 145291664G> C null F L 876 876 missense 0.096 benign 0.51 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782437880 1q21.1 1 145291664G> T null F L 876 876 missense 0.096 benign 0.51 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782279858 1q21.1 1 145291663G> A null Q * 877 877 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782237451 1q21.1 1 145291661C> A null Q H 877 877 missense 0.236 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782318885 1q21.1 1 145291662T> A null Q L 877 877 missense 0.43 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782318885 1q21.1 1 145291662T> C null Q R 877 877 missense 0.879 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs368793533 1q21.1 1 145291660G> C null H D 878 878 missense 0.322 benign 0.23 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1420903190 1q21.1 1 145291659T> A null H L 878 878 missense 0.258 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1420903190 1q21.1 1 145291659T> G null H P 878 878 missense 0.003 benign 0.31 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1419293632 1q21.1 1 145291658G> C null H Q 878 878 missense 0.023 benign 0.14 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1419293632 1q21.1 1 145291658G> T null H Q 878 878 missense 0.023 benign 0.14 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1420903190 1q21.1 1 145291659T> C null H R 878 878 missense 0.197 benign 0.15 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs368793533 1q21.1 1 145291660G> A null H Y 878 878 missense 0.575 possibly damaging 0.05 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587668407 1q21.1 1 145291655G> C null Y * 879 879 5.99E-4 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781897627 1q21.1 1 145291656T> C null Y C 879 879 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781897627 1q21.1 1 145291656T> A null Y F 879 879 missense 0.89 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587742413 1q21.1 1 145291657A> G null Y H 879 879 5.99E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781789632 1q21.1 1 145291654T> A null R * 880 880 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781789632 1q21.1 1 145291654T> C null R G 880 880 missense 0.001 benign 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1242294582 1q21.1 1 145291653C> A null R I 880 880 missense 0.419 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs74964242 1q21.1 1 145291652T> G null R S 880 880 missense 0.007 benign 0.42 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587608389 1q21.1 1 145291650C> A null S I 881 881 3.99E-4 missense 0.544 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587608389 1q21.1 1 145291650C> T null S N 881 881 3.99E-4 missense 0.276 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782744095 1q21.1 1 145291651T> G null S R 881 881 missense 0.872 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1558960319 1q21.1 1 145291648C> A null V L 882 882 missense 0.039 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782023126 1q21.1 1 145291645A> T null F I 883 883 missense 0.015 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782023126 1q21.1 1 145291645A> C null F V 883 883 missense 0.005 benign 0.24 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1208422631 1q21.1 1 145291640G> C null Y * 884 884 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs374768804 1q21.1 1 145291641T> C null Y C 884 884 missense 0.982 probably damaging 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs374768804 1q21.1 1 145291641T> A null Y F 884 884 missense 0.321 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782383854 1q21.1 1 145291638G> C null S * 885 885 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782383854 1q21.1 1 145291638G> A null S L 885 885 missense 0.051 benign 0.1 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1418521166 1q21.1 1 145291633C> T null E K 887 887 missense 0.55 possibly damaging 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1418521166 1q21.1 1 145291633C> G null E Q 887 887 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782576209 1q21.1 1 145291630C> A null E * 888 888 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782210528 1q21.1 1 145291629T> G null E A 888 888 missense 0.757 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782210528 1q21.1 1 145291629T> C null E G 888 888 missense 0.856 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782576209 1q21.1 1 145291630C> T null E K 888 888 missense 0.259 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782576209 1q21.1 1 145291630C> G null E Q 888 888 missense 0.343 benign 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782210528 1q21.1 1 145291629T> A null E V 888 888 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782649901 1q21.1 1 145291627G> A null Q * 889 889 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782649901 1q21.1 1 145291627G> C null Q E 889 889 missense 0.017 benign 0.13 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781907072 1q21.1 1 145291625C> G null Q H 889 889 missense 0.852 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782506637 1q21.1 1 145291626T> A null Q L 889 889 missense 0.09 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782506637 1q21.1 1 145291626T> C null Q R 889 889 missense 0.383 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782469268 1q21.1 1 145291624G> T null H N 890 890 missense 0.015 benign 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781795247 1q21.1 1 145291623T> C null H R 890 890 missense 0.003 benign 0.16 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782469268 1q21.1 1 145291624G> A null H Y 890 890 missense 0.003 benign 0.47 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781974268 1q21.1 1 145291621T> A null I F 891 891 missense 0.272 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782145684 1q21.1 1 145291619G> C null I M 891 891 missense 0.36 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781974268 1q21.1 1 145291621T> C null I V 891 891 missense 0.003 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781933065 1q21.1 1 145291618T> A null S C 892 892 missense 0.049 benign 0.24 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782309621 1q21.1 1 145291617C> T null S N 892 892 missense 0.062 benign 0.59 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1272910506 1q21.1 1 145291616G> C null S R 892 892 missense 0.522 possibly damaging 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782309621 1q21.1 1 145291617C> G null S T 892 892 missense 0.012 benign 0.45 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs375093596 1q21.1 1 145291612C> A null A S 894 894 missense 0.279 benign 0.11 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs375093596 1q21.1 1 145291612C> T null A T 894 894 missense 0.271 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782684620 1q21.1 1 145291609G> A null L F 895 895 missense 0.101 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1422257547 1q21.1 1 145291608A> T null L H 895 895 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782684620 1q21.1 1 145291609G> T null L I 895 895 missense 0.16 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1422257547 1q21.1 1 145291608A> G null L P 895 895 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782684620 1q21.1 1 145291609G> C null L V 895 895 missense 0.16 benign 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782205054 1q21.1 1 145291606A> G null Y H 896 896 missense 0.477 possibly damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,gnomAD rs587668912 1q21.1 1 145291605T> G null Y S 896 896 2.0E-4 missense 0.026 benign 0.06 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657632 1q21.1 1 145291602A> G null V A 897 897 missense 0.373 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657632 1q21.1 1 145291602A> C null V G 897 897 missense 0.848 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs113737426 1q21.1 1 145291603C> G null V L 897 897 missense 0.047 benign 0.05 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs113737426 1q21.1 1 145291603C> A null V L 897 897 missense 0.047 benign 0.05 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs113737426 1q21.1 1 145291603C> T null V M 897 897 missense 0.084 benign 0.23 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201083832 1q21.1 1 145291598G> C null D E 898 898 2.0E-4 missense 0.083 benign 0.08 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377296885 1q21.1 1 145291599T> C null D G 898 898 2.0E-4 missense 0.03 benign 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782712680 1q21.1 1 145291600C> T null D N 898 898 missense 0.738 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377296885 1q21.1 1 145291599T> A null D V 898 898 2.0E-4 missense 0.511 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781986330 1q21.1 1 145291597T> G null N H 899 899 missense 0.694 possibly damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587632904 1q21.1 1 145291596T> C null N S 899 899 2.0E-4 missense 0.038 benign 0.36 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587632904 1q21.1 1 145291596T> G null N T 899 899 2.0E-4 missense 0.185 benign 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,gnomAD rs587763604 1q21.1 1 145291593C> A null R M 900 900 2.0E-4 missense 0.482 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781941124 1q21.1 1 145291590A> C null F C 901 901 missense 0.649 possibly damaging 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes rs587680970 1q21.1 1 145291591A> T null F I 901 901 2.0E-4 missense 0.15 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781941124 1q21.1 1 145291590A> T null F Y 901 901 missense 0.009 benign 0.25 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370020654 1q21.1 1 145291586A> T null F L 902 902 5.99E-4 missense 0.003 benign 0.65 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782283569 1q21.1 1 145291584G> A null T I 903 903 missense 0.062 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782283569 1q21.1 1 145291584G> T null T N 903 903 missense 0.038 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1553657617 1q21.1 1 145291585T> A null T S 903 903 missense 0.012 benign 0.17 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782283569 1q21.1 1 145291584G> C null T S 903 903 missense 0.012 benign 0.17 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs200175900 1q21.1 1 145291581A> T null L * 904 904 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587767920 1q21.1 1 145291580C> G null L F 904 904 3.99E-4 missense 0.602 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587767920 1q21.1 1 145291580C> A null L F 904 904 3.99E-4 missense 0.602 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587689604 1q21.1 1 145291578G> T null T K 905 905 2.0E-4 missense 0.028 benign 0.6 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587689604 1q21.1 1 145291578G> A null T M 905 905 2.0E-4 missense 0.044 benign 0.3 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781785706 1q21.1 1 145291579T> G null T P 905 905 missense 0.239 benign 0.04 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587689604 1q21.1 1 145291578G> C null T R 905 905 2.0E-4 missense 0.232 benign 0.14 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781785706 1q21.1 1 145291579T> A null T S 905 905 missense 0.096 benign 0.15 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657605 1q21.1 1 145291575A> G null V A 906 906 missense 0.155 benign 0.12 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782754077 1q21.1 1 145291576C> A null V L 906 906 missense 0.561 possibly damaging 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782754077 1q21.1 1 145291576C> T null V M 906 906 missense 0.439 benign 0.05 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1341974325 1q21.1 1 145291573T> C null T A 907 907 missense 0.01 benign 0.07 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368822175 1q21.1 1 145291572G> C null T R 907 907 2.0E-4 missense 0.162 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1341974325 1q21.1 1 145291573T> A null T S 907 907 missense 0.113 benign 0.01 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657601 1q21.1 1 145291570T> C null S G 908 908 missense 0.017 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1361654902 1q21.1 1 145291569C> T null S N 908 908 missense 0.693 possibly damaging 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657601 1q21.1 1 145291570T> G null S R 908 908 missense 0.051 benign 1.0 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1558960094 1q21.1 1 145291566A> T null L H 909 909 missense 0.108 benign 0.13 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657594 1q21.1 1 145291567G> C null L V 909 909 missense 0.458 possibly damaging 0.09 tolerated 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587616544 1q21.1 1 145291563T> A null H L 910 910 3.99E-4 missense 0.035 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587616544 1q21.1 1 145291563T> G null H P 910 910 3.99E-4 missense 0.377 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ExAC,TOPMed,gnomAD rs587616544 1q21.1 1 145291563T> C null H R 910 910 3.99E-4 missense 0.139 benign 0.0 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657589 1q21.1 1 145291564G> A null H Y 910 910 missense 0.391 benign 0.02 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782351573 1q21.1 1 145291561G> C null L V 911 911 missense 0.056 benign 0.03 deleterious 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657584 1q21.1 1 145291557A> G null V A 912 912 missense 0.007 benign 0.18 tolerated - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782187736 1q21.1 1 145291558C> A null V L 912 912 missense 0.096 benign 0.01 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782187736 1q21.1 1 145291558C> T null V M 912 912 missense 0.601 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1478204452 1q21.1 1 145291555A> T null F I 913 913 missense 0.346 benign 0.0 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782650656 1q21.1 1 145291552G> A null Q * 914 914 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782676671 1q21.1 1 145291550C> A null Q H 914 914 missense 0.108 benign 0.1 tolerated - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781907982 1q21.1 1 145291551T> A null Q L 914 914 missense 0.693 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781907982 1q21.1 1 145291551T> G null Q P 914 914 missense 0.836 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs781907982 1q21.1 1 145291551T> C null Q R 914 914 missense 0.108 benign 0.15 tolerated - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs369339038 1q21.1 1 145291547C> A null M I 915 915 missense 0.003 benign 0.24 tolerated - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ESP,ExAC,TOPMed,gnomAD rs369339038 1q21.1 1 145291547C> G null M I 915 915 missense 0.003 benign 0.24 tolerated - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782450769 1q21.1 1 145291548A> T null M K 915 915 missense 0.15 benign 0.0 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657576 1q21.1 1 145291549T> A null M L 915 915 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782450769 1q21.1 1 145291548A> G null M T 915 915 missense 0.072 benign 0.0 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1158704292 1q21.1 1 145291546C> A null G * 916 916 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1361946898 1q21.1 1 145291545C> T null G E 916 916 missense 0.017 benign 0.21 tolerated - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1158704292 1q21.1 1 145291546C> T null G R 916 916 missense 0.086 benign 0.03 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1361946898 1q21.1 1 145291545C> A null G V 916 916 missense 0.138 benign 0.01 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782142777 1q21.1 1 145291542A> G null V A 917 917 missense 0.138 benign 0.0 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782142777 1q21.1 1 145291542A> T null V D 917 917 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657573 1q21.1 1 145291543C> A null V F 917 917 missense 0.361 benign 0.0 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657573 1q21.1 1 145291543C> T null V I 917 917 missense 0.023 benign 0.13 tolerated - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782091090 1q21.1 1 145291540T> G null I L 918 918 missense 0.011 benign 0.05 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782091090 1q21.1 1 145291540T> A null I L 918 918 missense 0.011 benign 0.05 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs781951349 1q21.1 1 145291539A> G null I T 918 918 missense 0.096 benign 0.0 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,TOPMed,gnomAD rs782091090 1q21.1 1 145291540T> C null I V 918 918 missense 0.061 benign 0.01 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 gnomAD rs1553657567 1q21.1 1 145291536A> G null F S 919 919 missense 0.301 benign 0.0 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed rs1234261030 1q21.1 1 145291537A> C null F V 919 919 missense 0.138 benign 0.04 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782419076 1q21.1 1 145291533G> C null P R 920 920 missense 0.239 benign 0.01 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 TOPMed,gnomAD rs1355893095 1q21.1 1 145291534G> T null P T 920 920 missense 0.171 benign 0.01 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782175357 1q21.1 1 145291531G> A null Q * 921 921 stop gained 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782175357 1q21.1 1 145291531G> C null Q E 921 921 missense 0.014 benign 0.07 tolerated - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372081131 1q21.1 1 145291529T> A null Q H 921 921 2.0E-4 missense 0.003 benign 0.78 tolerated - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372081131 1q21.1 1 145291529T> G null Q H 921 921 2.0E-4 missense 0.003 benign 0.78 tolerated - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782175357 1q21.1 1 145291531G> T null Q K 921 921 missense 0.113 benign 0.12 tolerated - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 ExAC,gnomAD rs782572762 1q21.1 1 145291530T> G null Q P 921 921 missense 0.284 benign 0.03 deleterious - low confidence 0 A0A075B7A3 NBPF20 Neuroblastoma breakpoint family member 20 Ensembl rs1558959964 1q21.1 1 145291527T> A null * L 922 922 stop lost 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) Ensembl rs866131132 19q13.33 19 50475484G> A null P L 1 1 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) 1000Genomes,ExAC,gnomAD rs200427417 19q13.33 19 50475478G> A null P L 3 3 2.0E-4 missense 0.856 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs746692083 19q13.33 19 50475479G> A null P S 3 3 missense 0.81 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs1336730589 19q13.33 19 50475468G> T null D E 6 6 missense 0.631 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1188456522 19q13.33 19 50475470C> T null D N 6 6 missense 0.737 possibly damaging 0.08 tolerated - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185418641 19q13.33 19 50475467G> A null L F 7 7 0.002196 missense 0.364 benign 0.06 tolerated - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) Ensembl rs1568680847 19q13.33 19 50475462C> A null W C 8 8 missense 0.883 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1396312829 19q13.33 19 50475460G> C null P R 9 9 missense 0.908 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1463770881 19q13.33 19 50475458G> A null Q * 10 10 stop gained 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1383644848 19q13.33 19 50475455C> T null V M 11 11 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs753537896 19q13.33 19 50475448C> T null R Q 13 13 missense 0.951 probably damaging 0.15 tolerated - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs895120268 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50475449G> A null R W 13 13 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1249611432 19q13.33 19 50475436A> G null V A 17 17 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1196182677 19q13.33 19 50475430T> C null N S 19 19 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs753029642 19q13.33 19 50475428C> T null E K 20 20 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs753029642 19q13.33 19 50475428C> G null E Q 20 20 missense 0.046 benign 0.03 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1291414807 19q13.33 19 50475417C> A null M I 23 23 missense 0.391 benign 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs1359608567 19q13.33 19 50475412A> G null V A 25 25 missense 0.915 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,NCI-TCGA,gnomAD rs759658220 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50475404A> G null S P 28 28 missense 0.976 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1435370863 19q13.33 19 50475401T> C null S G 29 29 missense 0.888 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) 1000Genomes,ExAC,gnomAD rs537093062 19q13.33 19 50475398G> C null P A 30 30 2.0E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1335525375 19q13.33 19 50475397G> T null P Q 30 30 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) 1000Genomes,ExAC,gnomAD rs537093062 19q13.33 19 50475398G> T null P T 30 30 2.0E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1350797377 19q13.33 19 50475395C> T null A T 31 31 missense 0.619 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1381323159 19q13.33 19 50475391A> T null L Q 32 32 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) Ensembl rs940243941 19q13.33 19 50475389C> A null E * 33 33 stop gained 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs763452397 [NCI-TCGA]: Variant assessed as Somatic; impact. 19q13.33 19 50475382G> A null P L 35 35 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1311747450 19q13.33 19 50475378G> C null D E 36 36 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) Ensembl rs987080557 19q13.33 19 50475380C> T null D N 36 36 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1240768473 19q13.33 19 50475365C> T null A T 41 41 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs1425371476 19q13.33 19 50475364G> A null A V 41 41 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs775252763 19q13.33 19 50475362C> T null G S 42 42 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1266772076 19q13.33 19 50475353T> C null K E 45 45 missense 0.722 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs771687579 19q13.33 19 50475345G> C null N K 47 47 missense 0.328 benign 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1363188252 19q13.33 19 50475346T> C null N S 47 47 missense 0.391 benign 0.02 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145879706 19q13.33 19 50475344C> T null G R 48 48 3.99E-4 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs757196054 19q13.33 19 50475340T> G null H P 49 49 missense 0.187 benign 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs778599109 19q13.33 19 50475341G> A null H Y 49 49 missense 0.187 benign 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs150269677 19q13.33 19 50475337A> G null L P 50 50 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs150269677 19q13.33 19 50475337A> T null L Q 50 50 missense 0.59 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1008082537 19q13.33 19 50475338G> C null L V 50 50 missense 0.933 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs552107394 19q13.33 19 50475327G> T null F L 53 53 5.99E-4 missense 0.028 benign 0.12 tolerated - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141064895 19q13.33 19 50475326C> T null G S 54 54 missense 0.955 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1364453499 19q13.33 19 50467731A> G null C R 55 55 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113780819 19q13.33 19 50467727C> T null G E 56 56 0.003395 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs919256556 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50467728C> T null G R 56 56 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs919256556 19q13.33 19 50467728C> G null G R 56 56 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1176918893 19q13.33 19 50467724G> A null P L 57 57 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1478962016 19q13.33 19 50467725G> A null P S 57 57 missense 0.81 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs778376043 19q13.33 19 50467718G> T null S * 59 59 stop gained 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1171456740 19q13.33 19 50467716T> A null R * 60 60 missense 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs144650795 19q13.33 19 50467713G> A null P S 61 61 missense 0.0 unknown 0.5 tolerated - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs149322102 19q13.33 19 50467710C> T null E K 62 62 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs149322102 19q13.33 19 50467710C> G null E Q 62 62 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369945016 19q13.33 19 50467706G> T null T N 63 63 missense 0.0 unknown 0.2 tolerated - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,TOPMed,gnomAD rs764776877 19q13.33 19 50467703T> C null E G 64 64 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) 1000Genomes,ExAC,NCI-TCGA,gnomAD rs538944264 [NCI-TCGA]: Variant assessed as Somatic; impact. 19q13.33 19 50467704C> T null E K 64 64 2.0E-4 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs761365225 19q13.33 19 50467697G> A null S L 66 66 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1293565671 19q13.33 19 50467691C> A null S I 68 68 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs775298572 19q13.33 19 50467683C> T null G S 71 71 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,TOPMed,gnomAD rs771821826 19q13.33 19 50467679C> A null C F 72 72 missense 0.0 unknown 0.31 tolerated - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs372151061 19q13.33 19 50467678G> C null C W 72 72 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) Ensembl rs957021882 19q13.33 19 50467677A> T null S T 73 73 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) Ensembl rs200604361 19q13.33 19 50467674T> G null T P 74 74 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1480208317 19q13.33 19 50467671C> T null A T 75 75 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,TOPMed,gnomAD rs771206794 19q13.33 19 50467670G> A null A V 75 75 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs1484966780 19q13.33 19 50467666G> C null C W 76 76 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,TOPMed,gnomAD rs749340552 19q13.33 19 50467665C> T null A T 77 77 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1189096592 19q13.33 19 50467664G> A null A V 77 77 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1208071703 19q13.33 19 50467661G> A null S F 78 78 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs748719448 19q13.33 19 50467643C> G null C S 84 84 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs371981693 19q13.33 19 50467640G> A null P L 85 85 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs371981693 19q13.33 19 50467640G> C null P R 85 85 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,TOPMed,gnomAD rs755340902 19q13.33 19 50467635G> A null R C 87 87 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,TOPMed,gnomAD rs750070917 19q13.33 19 50467634C> T null R H 87 87 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,TOPMed,gnomAD rs750070917 19q13.33 19 50467634C> G null R P 87 87 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,TOPMed,gnomAD rs755340902 19q13.33 19 50467635G> T null R S 87 87 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,TOPMed,gnomAD rs756938357 19q13.33 19 50467630C> G null R S 88 88 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) ExAC,gnomAD rs778385154 19q13.33 19 50467631C> G null R T 88 88 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs1174644829 19q13.33 19 50467629T> A null S C 89 89 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs1174644829 19q13.33 19 50467629T> C null S G 89 89 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs1302283280 19q13.33 19 50466947G> A null A V 94 94 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1448968043 19q13.33 19 50466939G> C null P A 97 97 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) Ensembl rs996203837 19q13.33 19 50466936C> G null D H 98 98 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs1448861475 19q13.33 19 50466929G> A null T I 100 100 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs75356685 19q13.33 19 50466913G> C null N K 105 105 0.001398 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1312412320 19q13.33 19 50466909C> T null G R 107 107 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs757460683 19q13.33 19 50466905T> C null D G 108 108 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs1053953477 19q13.33 19 50466906C> A null D Y 108 108 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1321999905 19q13.33 19 50466900C> T null E K 110 110 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1321999905 19q13.33 19 50466900C> G null E Q 110 110 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1252434183 19q13.33 19 50466875T> C null H R 118 118 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1201036095 19q13.33 19 50466876G> A null H Y 118 118 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) gnomAD rs1429391881 19q13.33 19 50466873G> A null R * 119 119 stop gained 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs977017828 19q13.33 19 50466872C> T null R Q 119 119 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1175855986 19q13.33 19 50466855T> C null S G 125 125 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1269734278 19q13.33 19 50466853A> C null S R 125 125 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) Ensembl rs1568673095 19q13.33 19 50466845G> A null P L 128 128 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1434044111 19q13.33 19 50466846G> A null P S 128 128 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs902685888 19q13.33 19 50466840C> A null G C 130 130 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) Ensembl rs1568673080 19q13.33 19 50466836C> T null R Q 131 131 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed,gnomAD rs1047044718 19q13.33 19 50466837G> A null R W 131 131 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs911098706 19q13.33 19 50466813T> C null I V 139 139 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs1460214900 19q13.33 19 50466807C> A null V F 141 141 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) TOPMed rs952650828 19q13.33 19 50466800G> T null P Q 143 143 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7A4 FAM71E1 Protein FAM71E1 (Fragment) Ensembl rs949631734 19q13.33 19 50466788T> A null N I 147 147 missense 0.0 unknown 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1259340214 19q13.42 19 54337447G> A null S F 1 1 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs774749510 19q13.42 19 54337445A> C null S A 2 2 missense 0.883 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs768838627 19q13.42 19 54337444G> A null S F 2 2 missense 0.583 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs780341602 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54337442C> T null E K 3 3 missense 0.199 benign 0.09 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs529229789 19q13.42 19 54337437C> T null W * 4 4 stop gained 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs529229789 19q13.42 19 54337437C> G null W C 4 4 missense 0.557 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377009166 19q13.42 19 54337435G> A null S L 5 5 missense 0.84 possibly damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs757320378 19q13.42 19 54337432G> T null A D 6 6 missense 0.942 probably damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs757320378 19q13.42 19 54337432G> A null A V 6 6 missense 0.497 possibly damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1364597292 19q13.42 19 54337429G> A null P L 7 7 missense 0.366 benign 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) Ensembl rs867832303 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54337430G> A null P S 7 7 missense 0.285 benign 0.04 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs866035700 19q13.42 19 54337420G> A null P L 10 10 missense 0.56 possibly damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs758298096 19q13.42 19 54337418G> C null L V 11 11 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs561669510 19q13.42 19 54337414T> C null D G 12 12 0.002796 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs572074245 19q13.42 19 54337415C> T null D N 12 12 0.002796 missense 0.383 benign 0.03 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs1169366496 19q13.42 19 54337411A> T null I N 13 13 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs1169366496 19q13.42 19 54337411A> G null I T 13 13 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142322002 19q13.42 19 54337404G> C null I M 15 15 5.99E-4 missense 0.777 possibly damaging 0.1 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs753446700 19q13.42 19 54337405A> C null I S 15 15 missense 0.552 possibly damaging 0.04 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147666256 19q13.42 19 54337403C> A null A S 16 16 0.001398 missense 0.147 benign 0.28 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147666256 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54337403C> T null A T 16 16 0.001398 missense 0.09 benign 0.33 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs773279262 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54337143C> T null G E 17 17 missense 0.672 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,gnomAD rs145702319 19q13.42 19 54337400C> G null G R 17 17 missense 0.672 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,gnomAD rs145702319 19q13.42 19 54337400C> T null G R 17 17 missense 0.672 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs773279262 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 19q13.42 19 54337143C> A null G V 17 17 missense 0.844 possibly damaging 0.0 deleterious - low confidence 1 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs1251349351 19q13.42 19 54337138T> A null I F 19 19 missense 0.034 benign 0.21 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) Ensembl rs1555926150 19q13.42 19 54337137A> G null I T 19 19 missense 0.093 benign 0.04 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs1251349351 19q13.42 19 54337138T> C null I V 19 19 missense 0.093 benign 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs747874323 19q13.42 19 54337134G> C null S C 20 20 missense 0.645 possibly damaging 0.03 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1469182777 19q13.42 19 54337135A> G null S P 20 20 missense 0.0 benign 1.0 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs747874323 19q13.42 19 54337134G> T null S Y 20 20 missense 0.003 benign 0.31 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1203840886 19q13.42 19 54337131T> G null D A 21 21 missense 0.023 benign 0.29 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1203840886 19q13.42 19 54337131T> C null D G 21 21 missense 0.023 benign 0.17 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs553666769 19q13.42 19 54337128C> T null R K 22 22 2.0E-4 missense 0.094 benign 0.13 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1018885553 19q13.42 19 54337123A> G null S P 24 24 missense 0.186 benign 0.02 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs754765350 19q13.42 19 54337113A> G null V A 27 27 missense 0.203 benign 0.08 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs779691454 19q13.42 19 54337111G> A null Q * 28 28 stop gained 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs755550461 19q13.42 19 54337109C> G null Q H 28 28 missense 0.133 benign 0.09 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs749999776 19q13.42 19 54337107G> A null P L 29 29 missense 0.216 benign 0.04 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141838994 19q13.42 19 54337098G> T null T K 32 32 missense 0.429 benign 0.12 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141838994 19q13.42 19 54337098G> A null T M 32 32 missense 0.564 possibly damaging 0.14 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs765596541 19q13.42 19 54337096C> T null V M 33 33 missense 0.905 possibly damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs149817571 19q13.42 19 54337093T> C null T A 34 34 missense 0.0 benign 1.0 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1254973320 19q13.42 19 54337082C> A null E D 37 37 missense 0.961 probably damaging 0.05 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs760826342 19q13.42 19 54337079C> G null K N 38 38 missense 0.003 benign 1.0 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1446838377 19q13.42 19 54337077A> G null V A 39 39 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs902223059 19q13.42 19 54337075T> C null T A 40 40 missense 0.824 possibly damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) Ensembl rs917017941 19q13.42 19 54337071A> C null L R 41 41 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1233865478 19q13.42 19 54337066A> G null C R 43 43 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) Ensembl rs1569165164 19q13.42 19 54337063G> A null Q * 44 44 stop gained 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs773475784 19q13.42 19 54337061C> G null Q H 44 44 missense 0.989 probably damaging 0.01 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1488946997 19q13.42 19 54337055C> T null W * 46 46 stop gained 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs988503273 19q13.42 19 54337057A> G null W R 46 46 missense 0.015 benign 1.0 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs771876606 19q13.42 19 54337050G> A null P L 48 48 missense 0.01 benign 0.47 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1348195121 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:21798893,cosmic_study:349 19q13.42 19 54337045A> G null F L 50 50 missense 0.117 benign 0.0 deleterious 1 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372969745 19q13.42 19 54337039A> G null F L 52 52 missense 0.517 possibly damaging 0.03 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs768444316 19q13.42 19 54337035A> G null L P 53 53 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1354123183 19q13.42 19 54337030T> C null T A 55 55 missense 0.359 benign 0.08 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs761772556 19q13.42 19 54337022C> G null E D 57 57 missense 0.076 benign 0.03 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1312372184 19q13.42 19 54337023T> C null E G 57 57 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) Ensembl rs955768176 19q13.42 19 54337018C> G null A P 59 59 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) Ensembl rs955768176 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54337018C> A null A S 59 59 missense 0.542 possibly damaging 0.03 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs981556372 19q13.42 19 54337012G> A null H Y 61 61 missense 0.015 benign 0.27 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1229528778 19q13.42 19 54337008G> C null P R 62 62 missense 0.97 probably damaging 0.13 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs780793259 19q13.42 19 54337009G> A null P S 62 62 missense 0.255 benign 0.04 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs756747611 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.42 19 54337005G> A null P L 63 63 missense 0.199 benign 0.14 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1254725235 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375,cosmic_study:419 19q13.42 19 54337000G> A null R C 65 65 missense 0.114 benign 0.1 tolerated 1 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs139101339 19q13.42 19 54336999C> T null R H 65 65 missense 0.022 benign 0.31 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs918613428 19q13.42 19 54336994T> A null R * 67 67 stop gained 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs754312400 19q13.42 19 54336992T> G null R S 67 67 missense 0.243 benign 0.02 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs766688651 19q13.42 19 54336990G> T null S * 68 68 stop gained 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs1018525884 19q13.42 19 54336987A> T null M K 69 69 missense 0.001 benign 1.0 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs1018525884 19q13.42 19 54336987A> C null M R 69 69 missense 0.003 benign 0.05 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs1018525884 19q13.42 19 54336987A> G null M T 69 69 missense 0.003 benign 0.13 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,gnomAD rs554649783 19q13.42 19 54336988T> C null M V 69 69 2.0E-4 missense 0.05 benign 0.03 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs150734187 19q13.42 19 54336982C> T null G R 71 71 missense 0.005 benign 0.9 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs761815747 19q13.42 19 54336978G> C null A G 72 72 missense 0.199 benign 0.12 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs761815747 19q13.42 19 54336978G> A null A V 72 72 missense 0.08 benign 0.05 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs1415464700 19q13.42 19 54336973T> C null K E 74 74 missense 0.55 possibly damaging 0.05 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs1361038586 19q13.42 19 54336970A> G null Y H 75 75 missense 0.239 benign 0.19 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369197037 cosmic curated [Cosmic]: lung cosmic_study:417 19q13.42 19 54336958A> G null F L 79 79 missense 0.855 possibly damaging 0.0 deleterious 1 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) Ensembl rs201646669 19q13.42 19 54336950C> T null M I 81 81 missense 0.099 benign 0.03 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1334813156 19q13.42 19 54336946G> A null P S 83 83 missense 0.618 possibly damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs768538816 19q13.42 19 54336942A> G null V A 84 84 missense 0.705 possibly damaging 0.02 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs762719897 19q13.42 19 54336940T> C null T A 85 85 missense 0.243 benign 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs994265901 19q13.42 19 54336934C> T null A T 87 87 missense 0.813 possibly damaging 0.02 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143168076 19q13.42 19 54336928C> A null A S 89 89 7.99E-4 missense 0.444 benign 0.1 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143168076 19q13.42 19 54336928C> T null A T 89 89 7.99E-4 missense 0.142 benign 0.04 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs1484171073 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: salivary_gland pubmed:23685749,cosmic_study:435,cosmic_study:489 19q13.42 19 54336927G> A null A V 89 89 missense 0.142 benign 0.04 deleterious 1 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1200266591 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54336924C> T null G E 90 90 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs139838647 19q13.42 19 54336925C> T null G R 90 90 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed,gnomAD rs1332488357 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 19q13.42 19 54336921G> A null T I 91 91 missense 0.886 possibly damaging 0.01 deleterious 1 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs755592465 19q13.42 19 54336918T> A null Y F 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1233831867 19q13.42 19 54336909T> C null Y C 95 95 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs750605218 19q13.42 19 54336906C> T null G D 96 96 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142697594 19q13.42 19 54336907C> T null G S 96 96 5.99E-4 missense 0.218 benign 0.7 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs750605218 19q13.42 19 54336906C> A null G V 96 96 missense 0.383 benign 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148055424 19q13.42 19 54336901G> A null R C 98 98 0.005791 missense 0.041 benign 0.17 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148055424 19q13.42 19 54336901G> C null R G 98 98 0.005791 missense 0.437 benign 0.32 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144561009 19q13.42 19 54336900C> T null R H 98 98 0.004992 missense 0.01 benign 0.63 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144561009 19q13.42 19 54336900C> A null R L 98 98 0.004992 missense 0.007 benign 0.79 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) Ensembl rs386810889 19q13.42 19 54336900_54336901delinsT A null R Y 98 98 missense 0.01 benign 1.0 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs762916224 19q13.42 19 54336897C> T null S N 99 99 missense 0.072 benign 0.06 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1407588819 19q13.42 19 54336896G> T null S R 99 99 missense 0.261 benign 0.05 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1415267086 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54336894G> A null S F 100 100 missense 0.156 benign 0.08 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs149289201 19q13.42 19 54336892T> C null N D 101 101 missense 0.023 benign 0.43 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs769529016 19q13.42 19 54336891T> A null N I 101 101 missense 0.092 benign 0.03 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs759339300 19q13.42 19 54336890G> T null N K 101 101 missense 0.062 benign 0.08 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs769529016 19q13.42 19 54336891T> C null N S 101 101 missense 0.039 benign 1.0 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ESP,ExAC,TOPMed,gnomAD rs149289201 19q13.42 19 54336892T> A null N Y 101 101 missense 0.055 benign 0.15 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs776279668 19q13.42 19 54336889G> T null P T 102 102 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs76665615 19q13.42 19 54336886A> G null Y H 103 103 missense 0.508 possibly damaging 0.12 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs568171065 19q13.42 19 54336877A> T null S T 106 106 2.0E-4 missense 0.04 benign 0.1 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75547479 19q13.42 19 54336874G> C null H D 107 107 0.01478 missense 0.05 benign 0.08 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74869671 19q13.42 19 54336873T> A null H L 107 107 0.01478 missense 0.009 benign 0.66 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs75547479 19q13.42 19 54336874G> A null H Y 107 107 0.01478 missense 0.035 benign 0.48 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs562664506 19q13.42 19 54336871G> A null P S 108 108 2.0E-4 missense 0.391 benign 0.03 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs562664506 19q13.42 19 54336871G> T null P T 108 108 2.0E-4 missense 0.914 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,TOPMed rs546110149 19q13.42 19 54336863C> G null E D 110 110 2.0E-4 missense 0.015 benign 1.0 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1007159699 19q13.42 19 54336864T> C null E G 110 110 missense 0.034 benign 0.02 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs781459172 19q13.42 19 54336861G> A null P L 111 111 missense 0.973 probably damaging 0.02 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs532292787 19q13.42 19 54336862G> A null P S 111 111 2.0E-4 missense 0.468 possibly damaging 0.05 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs751625685 19q13.42 19 54336859G> C null L V 112 112 missense 0.413 benign 0.12 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs138326444 19q13.42 19 54336854C> G null E D 113 113 0.02197 missense 0.784 possibly damaging 0.01 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1222896096 19q13.42 19 54336856C> G null E Q 113 113 missense 0.391 benign 0.03 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs141881690 19q13.42 19 54336850C> T null V M 115 115 0.03155 missense 0.242 benign 0.17 tolerated 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs765164179 19q13.42 19 54336846A> G null V A 116 116 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs765164179 19q13.42 19 54336846A> T null V D 116 116 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs765164179 19q13.42 19 54336846A> C null V G 116 116 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1158094335 19q13.42 19 54336840C> G null G A 118 118 missense 0.309 benign 0.07 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs759362892 19q13.42 19 54336837T> C null E G 119 119 missense 0.005 benign 0.41 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs776340091 19q13.42 19 54336834C> G null G A 120 120 missense 0.005 benign 0.49 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs776340091 19q13.42 19 54336834C> A null G V 120 120 missense 0.147 benign 0.22 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1440766414 19q13.42 19 54336831G> T null A D 121 121 missense 0.005 benign 0.57 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs554663795 19q13.42 19 54336832C> G null A P 121 121 0.02097 missense 0.001 benign 0.4 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs554663795 19q13.42 19 54336832C> A null A S 121 121 0.02097 missense 0.009 benign 0.69 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs554663795 19q13.42 19 54336832C> T null A T 121 121 0.02097 missense 0.009 benign 0.54 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1440766414 19q13.42 19 54336831G> A null A V 121 121 missense 0.102 benign 0.27 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1381166028 19q13.42 19 54336825G> A null P L 123 123 missense 0.018 benign 0.04 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3745419 19q13.42 19 54336819T> A null H L 125 125 0.1645 missense 0.0 benign 0.7 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3745419 19q13.42 19 54336819T> C null H R 125 125 0.1645 missense 0.0 benign 0.44 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs575148864 19q13.42 19 54336820G> A null H Y 125 125 0.02097 missense 0.014 benign 1.0 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs770477533 19q13.42 19 54336816G> A null S F 126 126 missense 0.62 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) gnomAD rs1347468398 19q13.42 19 54336813T> A null E V 127 127 missense 0.015 benign 0.15 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1438641772 19q13.42 19 54336804C> G null G A 130 130 missense 0.66 possibly damaging 0.44 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1438641772 19q13.42 19 54336804C> T null G E 130 130 missense 0.863 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs781447643 19q13.42 19 54336805C> T null G R 130 130 missense 0.905 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) TOPMed rs1181095024 19q13.42 19 54336802C> A null V F 131 131 missense 0.0 benign 0.5 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,TOPMed,gnomAD rs747148928 19q13.42 19 54336792T> C null N S 134 134 missense 0.0 benign 0.85 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,gnomAD rs540166856 19q13.42 19 54336783C> T null G E 137 137 2.0E-4 missense 0.161 benign 0.41 tolerated - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) ExAC,gnomAD rs758404504 19q13.42 19 54336777A> G null L P 139 139 missense 0.358 benign 0.0 deleterious - low confidence 0 A0A075B7A5 LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs571053917 19q13.42 19 54336775G> T null P T 140 140 2.0E-4 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs779557936 19q13.33 19 50876603C> G null P R 2 2 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1313589053 19q13.33 19 50876606A> T null D V 3 3 missense 0.43 benign 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs751019081 19q13.33 19 50876612A> C null D A 5 5 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs751019081 19q13.33 19 50876612A> G null D G 5 5 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs754620463 19q13.33 19 50876614T> C null S P 6 6 missense 0.831 possibly damaging 0.11 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1194200706 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19q13.33 19 50876631G> T null M I 11 11 missense 0.984 probably damaging 0.02 deleterious - low confidence 1 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1194200706 cosmic curated [Cosmic]: lung cosmic_study:417 19q13.33 19 50876631G> A null M I 11 11 missense 0.984 probably damaging 0.02 deleterious - low confidence 1 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs780850590 19q13.33 19 50876630T> C null M T 11 11 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs868181466 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50876638C> T null R C 14 14 missense 0.924 probably damaging 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141433497 19q13.33 19 50876639G> A null R H 14 14 5.99E-4 missense 0.832 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs779626270 19q13.33 19 50876642T> C null L P 15 15 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs201420191 19q13.33 19 50876645C> T null S L 16 16 missense 0.52 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs775716275 19q13.33 19 50876650C> A null P T 18 18 missense 0.976 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs760767510 19q13.33 19 50876653G> T null A S 19 19 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1262911955 19q13.33 19 50876659A> C null I L 21 21 missense 0.137 benign 0.31 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1165601712 19q13.33 19 50876669T> C null V A 24 24 missense 0.0 benign 0.64 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs768781922 19q13.33 19 50876675A> G null K R 26 26 missense 0.747 possibly damaging 0.19 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs776883593 19q13.33 19 50876677G> A null V I 27 27 missense 0.2 benign 0.08 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs761580848 19q13.33 19 50876684G> A null G D 29 29 missense 0.018 benign 0.23 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs1266560316 19q13.33 19 50876687T> G null L R 30 30 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs150407674 19q13.33 19 50876692A> C null T P 32 32 3.99E-4 missense 0.958 probably damaging 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs150407674 19q13.33 19 50876692A> T null T S 32 32 3.99E-4 missense 0.284 benign 0.14 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1364182331 19q13.33 19 50876698G> T null E * 34 34 missense 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ESP,ExAC,gnomAD rs375071124 19q13.33 19 50876699A> G null E G 34 34 missense 0.594 possibly damaging 0.16 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1364182331 19q13.33 19 50876698G> C null E Q 34 34 missense 0.756 possibly damaging 0.17 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs751057468 19q13.33 19 50876704G> A null A T 36 36 missense 0.037 benign 0.14 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1463069434 19q13.33 19 50876711G> A null G E 38 38 missense 0.749 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) Ensembl rs867098244 19q13.33 19 50876710G> A null G R 38 38 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs767113694 19q13.33 19 50876713A> G null T A 39 39 missense 0.205 benign 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs1007599673 19q13.33 19 50876714C> A null T N 39 39 missense 0.877 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs752387681 19q13.33 19 50876717C> T null T I 40 40 missense 0.305 benign 0.02 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs1450075813 19q13.33 19 50876719T> C null C R 41 41 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1047590428 19q13.33 19 50876723A> G null Y C 42 42 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs548804316 19q13.33 19 50876726C> A null A D 43 43 3.99E-4 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs572630957 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.33 19 50876725G> A null A T 43 43 missense 0.603 possibly damaging 0.07 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1221619779 19q13.33 19 50876732G> C null G A 45 45 missense 0.971 probably damaging 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs780657127 19q13.33 19 50876736G> A null W * 46 46 missense 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs780657127 cosmic curated [Cosmic]: lung cosmic_study:417 19q13.33 19 50876736G> C null W C 46 46 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs759003652 19q13.33 19 50876734T> C null W R 46 46 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs747100066 19q13.33 19 50876738G> A null G D 47 47 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs747100066 19q13.33 19 50876738G> T null G V 47 47 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1297303325 19q13.33 19 50876743A> G null I V 49 49 missense 0.056 benign 0.1 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371591640 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50876746G> A null E K 50 50 missense 0.12 benign 0.11 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs770029999 19q13.33 19 50876874T> G null L V 55 55 missense 0.005 benign 0.17 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374929405 cosmic curated [Cosmic]: bone, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:24190505,cosmic_study:518 19q13.33 19 50876877C> T null R C 56 56 missense 0.921 probably damaging 0.11 tolerated - low confidence 1 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs142858357 19q13.33 19 50876878G> A null R H 56 56 missense 0.042 benign 0.36 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1300098375 19q13.33 19 50876881C> A null P H 57 57 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs770705091 19q13.33 19 50876880C> T null P S 57 57 missense 0.4 benign 0.02 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369369751 19q13.33 19 50876884G> A null R K 58 58 missense 0.031 benign 0.39 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC rs759526587 19q13.33 19 50876893A> G null Q R 61 61 missense 0.878 possibly damaging 0.06 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ExAC,gnomAD rs550900386 19q13.33 19 50876896G> A null C Y 62 62 2.0E-4 missense 0.972 probably damaging 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) Ensembl rs900452791 19q13.33 19 50876904C> T null L F 65 65 missense 0.803 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs775095604 19q13.33 19 50876910C> A null L I 67 67 missense 0.715 possibly damaging 0.34 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs775095604 19q13.33 19 50876910C> G null L V 67 67 missense 0.697 possibly damaging 0.14 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1436987668 19q13.33 19 50876914T> C null L P 68 68 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1383395534 19q13.33 19 50876919A> G null N D 70 70 missense 0.75 possibly damaging 0.21 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs763886459 19q13.33 19 50876921T> A null N K 70 70 missense 0.822 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs763886459 19q13.33 19 50876921T> G null N K 70 70 missense 0.822 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs145987976 19q13.33 19 50876920A> G null N S 70 70 missense 0.136 benign 0.08 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1226121075 19q13.33 19 50876923A> G null D G 71 71 missense 0.216 benign 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs763471334 19q13.33 19 50876926T> C null M T 72 72 missense 0.005 benign 0.25 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs753538803 19q13.33 19 50876925A> G null M V 72 72 missense 0.001 benign 0.42 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs766780170 19q13.33 19 50876928T> C null C R 73 73 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs751806019 19q13.33 19 50876932C> G null A G 74 74 missense 0.541 possibly damaging 0.05 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1248745153 19q13.33 19 50876935G> C null R T 75 75 missense 0.049 benign 0.05 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1449331273 19q13.33 19 50876937G> A null A T 76 76 missense 0.77 possibly damaging 0.06 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ExAC,gnomAD rs569104458 19q13.33 19 50876951G> T null K N 80 80 2.0E-4 missense 0.218 benign 0.07 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1397503456 19q13.33 19 50876950A> G null K R 80 80 missense 0.157 benign 0.06 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs1192445976 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23415222,cosmic_study:465 19q13.33 19 50876952G> T null V L 81 81 missense 0.868 possibly damaging 0.01 deleterious - low confidence 1 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs752825789 19q13.33 19 50876955A> G null T A 82 82 missense 0.95 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs752825789 19q13.33 19 50876955A> T null T S 82 82 missense 0.95 probably damaging 0.04 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1054420925 19q13.33 19 50876963C> A null F L 84 84 missense 0.062 benign 0.21 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs756158144 19q13.33 19 50876962T> A null F Y 84 84 missense 0.111 benign 0.32 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373014309 19q13.33 19 50876964A> G null M V 85 85 missense 0.829 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1320586763 19q13.33 19 50876968T> A null L * 86 86 stop gained 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs772069377 19q13.33 19 50876984G> A null W * 91 91 stop gained 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs745610159 19q13.33 19 50876982T> C null W R 91 91 missense 0.102 benign 0.09 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1298962097 19q13.33 19 50876989G> A null G D 93 93 missense 0.804 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs775544696 19q13.33 19 50876991G> T null G C 94 94 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,NCI-TCGA rs536878458 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50876997G> A null D N 96 96 2.0E-4 missense 0.989 probably damaging 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs886573877 19q13.33 19 50877006G> A null G R 99 99 missense 0.112 benign 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1307848600 19q13.33 19 50877705A> G null E G 100 100 missense 0.321 benign 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1203442971 19q13.33 19 50877704G> A null E K 100 100 missense 0.513 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,TOPMed,gnomAD rs373256100 19q13.33 19 50877716G> A null V M 104 104 3.99E-4 missense 0.052 benign 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs948189078 19q13.33 19 50877721T> A null D E 105 105 missense 0.902 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs990417457 19q13.33 19 50877722G> C null G R 106 106 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) Ensembl rs764648411 19q13.33 19 50877725G> A null A T 107 107 missense 0.011 benign 0.09 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) Ensembl rs914403414 19q13.33 19 50877728G> A null G R 108 108 missense 0.003 benign 0.09 tolerated - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ExAC,TOPMed rs542558690 19q13.33 19 50877731C> T null Q * 109 109 2.0E-4 stop gained 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1461730605 19q13.33 19 50877739G> C null K N 111 111 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1052712985 19q13.33 19 50877746G> T null A S 114 114 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs775859990 19q13.33 19 50878405G> T null V L 118 118 missense 0.0 benign 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1229917803 19q13.33 19 50878412T> C null L P 120 120 missense 0.039 benign 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ExAC,gnomAD rs550336155 19q13.33 19 50878415G> A null G E 121 121 2.0E-4 missense 0.97 probably damaging 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs760976334 19q13.33 19 50878414G> A null G R 121 121 missense 0.98 probably damaging 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1292384058 19q13.33 19 50878427C> G null S C 125 125 missense 0.124 benign 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs1464956347 19q13.33 19 50878435G> A null V M 128 128 missense 0.788 possibly damaging 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) Ensembl rs761089063 19q13.33 19 50878447G> A null V I 132 132 missense 0.001 benign 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs554497468 19q13.33 19 50878455T> G null H Q 134 134 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1360784488 19q13.33 19 50878454A> G null H R 134 134 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs765217792 19q13.33 19 50878453C> T null H Y 134 134 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1199259963 19q13.33 19 50878463C> A null A D 137 137 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs1015998422 19q13.33 19 50878462G> T null A S 137 137 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs1015998422 19q13.33 19 50878462G> A null A T 137 137 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs1174538762 19q13.33 19 50878469G> A null S N 139 139 missense 0.393 benign 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC rs750451077 19q13.33 19 50878470C> G null S R 139 139 missense 0.514 possibly damaging 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs764423224 19q13.33 19 50878471C> G null H D 140 140 missense 0.412 benign 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs766661904 19q13.33 19 50878477C> T null P S 142 142 missense 0.0 benign 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1473350463 19q13.33 19 50878486A> G null K E 145 145 missense 0.011 benign 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs1383383168 19q13.33 19 50878490G> A null S N 146 146 missense 0.015 benign 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs748025939 19q13.33 19 50878505C> T null P L 151 151 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) Ensembl rs1568504614 19q13.33 19 50878507A> G null R G 152 152 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140321127 19q13.33 19 50878508G> A null R K 152 152 2.0E-4 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140321127 19q13.33 19 50878508G> C null R T 152 152 2.0E-4 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1289824741 19q13.33 19 50878511G> A null W * 153 153 stop gained 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1329492054 19q13.33 19 50878513T> C null C R 154 154 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1227213048 19q13.33 19 50878519A> G null T A 156 156 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs770590385 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 50878522G> A null G R 157 157 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1210361467 19q13.33 19 50878523G> T null G V 157 157 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377555535 19q13.33 19 50878536G> T null R S 161 161 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs60268688 19q13.33 19 50878537A> G null T A 162 162 0.02416 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1414420068 19q13.33 19 50878538C> T null T I 162 162 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs60268688 19q13.33 19 50878537A> C null T P 162 162 0.02416 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC rs777251727 19q13.33 19 50878541C> T null P L 163 163 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs566614502 19q13.33 19 50878544C> T null S L 164 164 2.0E-4 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs566614502 19q13.33 19 50878544C> G null S W 164 164 2.0E-4 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs946944071 19q13.33 19 50878546C> T null Q * 165 165 missense 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs946944071 19q13.33 19 50878546C> A null Q K 165 165 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) Ensembl rs1568504669 19q13.33 19 50878555C> T null P S 168 168 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed,gnomAD rs1042761457 19q13.33 19 50878558G> A null E K 169 169 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1416491310 19q13.33 19 50878567T> G null C G 172 172 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs763103633 19q13.33 19 50878568G> A null C Y 172 172 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) TOPMed rs1249211354 19q13.33 19 50878571C> T null P L 173 173 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) Ensembl rs1568504710 19q13.33 19 50878577C> T null P L 175 175 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs766751727 19q13.33 19 50878576C> T null P S 175 175 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) gnomAD rs1244956643 19q13.33 19 50878579A> G null T A 176 176 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,gnomAD rs751829292 19q13.33 19 50878580C> T null T I 176 176 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) 1000Genomes,ExAC,gnomAD rs150357173 19q13.33 19 50878588A> G null K E 179 179 2.0E-4 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) Ensembl rs867456317 19q13.33 19 50878595A> G null K R 181 181 missense 0.0 unknown 0 A0A075B7A6 KLK2 Kallikrein-2 (Fragment) ExAC,TOPMed,gnomAD rs777714551 19q13.33 19 50878600A> C null T P 183 183 missense 0.0 unknown 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372493783 Xq28 X 149583173G> A null L F 3 3 0.001854 missense 0.152 benign 0.49 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372493783 Xq28 X 149583173G> C null L V 3 3 0.001854 missense 0.836 possibly damaging 0.35 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781791570 Xq28 X 149583170C> T null E K 4 4 missense 0.636 possibly damaging 0.49 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782633209 Xq28 X 149583160C> T null S N 7 7 missense 0.909 probably damaging 0.1 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782470689 Xq28 X 149583157G> A null P L 8 8 missense 0.001 benign 0.1 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782766640 Xq28 X 149583127G> T null A D 18 18 missense 0.995 probably damaging 0.09 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC rs782144981 Xq28 X 149583119C> A null E * 21 21 stop gained 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781803642 Xq28 X 149583116C> T null D N 22 22 missense 0.015 benign 0.02 deleterious 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC rs782091455 Xq28 X 149583102C> T null M I 26 26 missense 0.029 benign 0.01 deleterious 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351029 Xq28 X 149583101C> T null G S 27 27 missense 0.909 probably damaging 0.05 deleterious 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781950530 Xq28 X 149583091T> C null E G 30 30 missense 0.0 benign 0.25 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,dbSNP,gnomAD rs202146513 pubmed:20598277 Xq28 X 149583088G> T null P H 31 31 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) Ensembl rs1569560888 Xq28 X 149583079_149583080insTGCTGTCAGAGGAGGAGGTAGTCTCCT C null E G 34 34 stop gained 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782408487 Xq28 X 149583080C> T null E K 34 34 missense 0.96 probably damaging 0.05 deleterious 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351013 Xq28 X 149583058G> A null S F 41 41 missense 0.176 benign 0.23 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782200179 Xq28 X 149583049C> A null S I 44 44 missense 0.007 benign 0.07 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782354350 Xq28 X 149583043T> C null E G 46 46 missense 0.288 benign 0.38 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs781924002 Xq28 X 149583044C> T null E K 46 46 missense 0.173 benign 0.92 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351008 Xq28 X 149583039C> G null E D 47 47 missense 0.906 possibly damaging 0.08 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557351007 Xq28 X 149583038C> T null E K 48 48 missense 0.674 possibly damaging 0.27 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC rs782217025 Xq28 X 149583034A> G null V A 49 49 missense 0.231 benign 0.07 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350997 Xq28 X 149583020A> T null S T 54 54 missense 0.46 possibly damaging 0.83 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350992 Xq28 X 149583014T> C null S G 56 56 missense 0.027 benign 0.43 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350990 Xq28 X 149583013C> A null S I 56 56 missense 0.966 probably damaging 0.07 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350989 Xq28 X 149583011G> T null P T 57 57 missense 0.406 benign 0.37 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782647922 Xq28 X 149583003C> G null Q H 59 59 missense 0.176 benign 0.03 deleterious 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350986 Xq28 X 149583002T> C null S G 60 60 missense 0.783 possibly damaging 0.25 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350978 Xq28 X 149582992C> T null G E 63 63 missense 0.271 benign 0.71 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350983 Xq28 X 149582993C> T null G R 63 63 missense 0.377 benign 0.79 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782517426 Xq28 X 149582987C> T null A T 65 65 missense 0.183 benign 0.15 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350977 Xq28 X 149582984A> G null S P 66 66 missense 0.828 possibly damaging 0.25 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) ExAC,gnomAD rs782277165 Xq28 X 149582969C> T null V I 71 71 missense 0.012 benign 1.0 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350967 Xq28 X 149582963A> T null Y N 73 73 missense 0.242 benign 0.3 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350963 Xq28 X 149582943G> C null F L 79 79 missense 0.006 benign 0.16 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350956 Xq28 X 149582908G> C null P R 91 91 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350954 Xq28 X 149582899G> A null S L 94 94 missense 0.031 benign 0.71 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350947 Xq28 X 149582871C> G null M I 103 103 missense 0.017 benign 0.13 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) TOPMed rs1557350945 Xq28 X 149582810G> A null R * 124 124 stop gained 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350939 Xq28 X 149582797G> A null P L 128 128 missense 0.047 benign 0.19 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350924 Xq28 X 149582783C> T null E K 133 133 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350917 Xq28 X 149582768C> T null V I 138 138 missense 0.275 benign 0.14 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350916 Xq28 X 149582738C> T null V M 148 148 missense 0.375 benign 0.07 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350914 Xq28 X 149582735T> C null I V 149 149 missense 0.503 possibly damaging 0.07 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350905 Xq28 X 149582717C> T null E K 155 155 missense 0.569 possibly damaging 0.06 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350901 Xq28 X 149582697A> T null F L 161 161 missense 0.947 probably damaging 0.04 deleterious 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350897 Xq28 X 149582688A> C null D E 164 164 missense 0.003 benign 0.93 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350887 Xq28 X 149582641G> A null A V 180 180 missense 0.017 benign 0.45 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350882 Xq28 X 149582611C> T null G D 190 190 missense 0.036 benign 0.25 tolerated 0 A0A075B7A9 MAGEA9B Melanoma-associated antigen 9 (Fragment) gnomAD rs1557350881 Xq28 X 149582596A> C null M R 195 195 missense 0.209 benign 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A 1000Genomes rs548228931 19q13.2 19 40084750C> T null V I 2 2 2.0E-4 missense 0.01 benign 0.07 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1402479487 19q13.2 19 40084746T> C null H R 3 3 missense 0.068 benign 0.1 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ESP,ExAC,TOPMed,gnomAD rs368684262 19q13.2 19 40083236C> T null G E 4 4 missense 0.72 possibly damaging 0.1 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed rs1025091965 19q13.2 19 40083237C> T null G R 4 4 missense 0.795 possibly damaging 0.02 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ESP,ExAC,TOPMed,gnomAD rs368684262 19q13.2 19 40083236C> A null G V 4 4 missense 0.286 benign 0.04 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed rs1223541139 19q13.2 19 40083231C> G null V L 6 6 missense 0.005 benign 0.2 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1009218897 19q13.2 19 40083223G> T null F L 8 8 missense 0.579 possibly damaging 0.01 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1004837653 19q13.2 19 40083215A> G null V A 11 11 missense 0.587 possibly damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1409679765 19q13.2 19 40083212G> T null A D 12 12 missense 0.613 possibly damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs779849221 19q13.2 19 40083213C> T null A T 12 12 missense 0.75 possibly damaging 0.07 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1164729525 19q13.2 19 40083194T> G null E A 18 18 missense 0.506 possibly damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1164729525 19q13.2 19 40083194T> C null E G 18 18 missense 0.684 possibly damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ESP,ExAC,TOPMed,gnomAD rs376786217 19q13.2 19 40083192C> A null E * 19 19 stop gained 0 A0A075B7B0 ZNF780A Zinc finger protein 780A Ensembl rs1294773225 19q13.2 19 40083187C> T null W * 20 20 stop gained 0 A0A075B7B0 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,gnomAD rs193011790 19q13.2 19 40083186C> T null E K 21 21 2.0E-4 missense 0.054 benign 0.06 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A Ensembl rs887896458 19q13.2 19 40083182C> G null C S 22 22 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1249979237 19q13.2 19 40083180G> T null L M 23 23 missense 0.529 possibly damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1299276243 19q13.2 19 40083179A> G null L P 23 23 missense 0.604 possibly damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1209450015 19q13.2 19 40083177G> A null Q * 24 24 stop gained 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs756541533 19q13.2 19 40083175C> A null Q H 24 24 missense 0.403 benign 0.04 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A 1000Genomes rs560647175 19q13.2 19 40083174G> A null P S 25 25 2.0E-4 missense 0.175 benign 0.63 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC rs753131584 19q13.2 19 40083171C> G null D H 26 26 missense 0.424 benign 0.03 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs767808864 19q13.2 19 40083155T> C null Y C 31 31 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1230351924 19q13.2 19 40083153T> C null R G 32 32 missense 0.0 benign 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186689652 19q13.2 19 40083149T> A null D V 33 33 0.003395 missense 0.099 benign 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs759938680 19q13.2 19 40083150C> A null D Y 33 33 missense 0.601 possibly damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs766529747 19q13.2 19 40083147C> T null V M 34 34 missense 0.879 possibly damaging 0.05 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs763024800 19q13.2 19 40083142C> T null M I 35 35 missense 0.258 benign 0.07 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1367001815 19q13.2 19 40083143A> T null M K 35 35 missense 0.677 possibly damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1433778330 19q13.2 19 40083140A> G null L S 36 36 missense 0.735 possibly damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs773233638 19q13.2 19 40083130G> T null Y * 39 39 stop gained 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs769744289 19q13.2 19 40083128C> T null S N 40 40 missense 0.481 possibly damaging 0.11 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs748086991 19q13.2 19 40083120T> G null I L 43 43 missense 0.0 benign 0.05 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs765275077 19q13.2 19 40081911C> T null S N 47 47 missense 0.324 benign 0.2 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed rs1420233385 19q13.2 19 40081908G> C null S C 48 48 missense 0.0 benign 0.4 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs761950207 19q13.2 19 40081906T> G null I L 49 49 missense 0.017 benign 0.07 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1197675932 19q13.2 19 40081902G> A null S F 50 50 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A NCI-TCGA,TOPMed,gnomAD rs200125809 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19q13.2 19 40081884G> A null T M 56 56 missense 0.551 possibly damaging 0.0 deleterious 1 A0A075B7B0 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,TOPMed,gnomAD rs551340499 19q13.2 19 40081864C> G null E Q 63 63 9.98E-4 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs775389486 19q13.2 19 40081853C> T null M I 66 66 missense 0.0 benign 0.13 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1344184407 19q13.2 19 40081854A> G null M T 66 66 missense 0.01 benign 0.04 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1255383164 19q13.2 19 40081851A> G null V A 67 67 missense 0.028 benign 0.18 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs771875897 19q13.2 19 40081849C> G null V L 68 68 missense 0.0 benign 0.25 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs868346879 19q13.2 19 40081845C> T null R K 69 69 missense 0.023 benign 0.24 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs868346879 19q13.2 19 40081845C> A null R M 69 69 missense 0.397 benign 0.0 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed rs972524150 19q13.2 19 40081843T> G null K Q 70 70 missense 0.346 benign 0.05 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs745568435 19q13.2 19 40081838T> G null E D 71 71 missense 0.935 probably damaging 0.5 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ESP,TOPMed rs368373481 19q13.2 19 40081837T> C null T A 72 72 missense 0.935 probably damaging 0.06 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs778701160 19q13.2 19 40081836G> A null T I 72 72 missense 0.981 probably damaging 0.03 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs778701160 19q13.2 19 40081836G> C null T R 72 72 missense 0.987 probably damaging 0.06 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A Ensembl rs1568453415 19q13.2 19 40081831T> C null R G 74 74 missense 0.0 benign 0.79 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,gnomAD rs533290623 19q13.2 19 40081830C> T null R K 74 74 2.0E-4 missense 0.05 benign 0.92 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,TOPMed,gnomAD rs550614087 19q13.2 19 40081827C> T null R Q 75 75 2.0E-4 missense 0.0 benign 0.55 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A 1000Genomes,ExAC,TOPMed,gnomAD rs557141470 cosmic curated [Cosmic]: lung cosmic_study:417 19q13.2 19 40081828G> A null R W 75 75 2.0E-4 missense 0.0 benign 0.68 tolerated 1 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs746175495 19q13.2 19 40076204C> T null E K 80 80 missense 0.067 benign 0.14 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117501285 19q13.2 19 40076179A> G null V A 88 88 0.003195 missense 0.003 benign 0.02 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A Ensembl rs983651253 19q13.2 19 40076171C> T null E K 91 91 missense 0.042 benign 0.93 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,gnomAD rs756234237 19q13.2 19 40076162T> C null T A 94 94 missense 0.0 benign 0.04 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1323237973 19q13.2 19 40076153C> T null V I 97 97 missense 0.0 benign 1.0 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1313176151 19q13.2 19 40076149T> G null N T 98 98 missense 0.956 probably damaging 0.18 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs752736241 19q13.2 19 40076145T> G null L F 99 99 missense 0.986 probably damaging 0.1 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A Ensembl rs1568447962 19q13.2 19 40076143G> A null P L 100 100 missense 0.489 possibly damaging 0.29 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ESP rs368123779 19q13.2 19 40076144G> A null P S 100 100 missense 0.031 benign 1.0 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed,gnomAD rs1031718987 19q13.2 19 40076137T> C null Q R 102 102 missense 0.0 benign 0.66 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs771265971 19q13.2 19 40076135C> A null V F 103 103 missense 0.0 benign 0.05 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A gnomAD rs1423661737 19q13.2 19 40076134A> C null V G 103 103 missense 0.003 benign 0.36 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A ExAC,TOPMed,gnomAD rs771265971 19q13.2 19 40076135C> T null V I 103 103 missense 0.0 benign 0.26 tolerated 0 A0A075B7B0 ZNF780A Zinc finger protein 780A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74805553 19q13.2 19 40076132T> A null I L 104 104 0.02436 missense 0.006 benign 0.02 deleterious 0 A0A075B7B0 ZNF780A Zinc finger protein 780A TOPMed rs1226309039 19q13.2 19 40076126G> T null Q K 106 106 missense 0.001 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781923969 15q26.3 15 99105204T> C null L P 2 2 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482307 15q26.3 15 99105207C> T null S F 3 3 missense 0.845 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782160604 15q26.3 15 99105212C> G null R G 5 5 missense 0.993 probably damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482310 15q26.3 15 99105213G> A null R Q 5 5 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782160604 15q26.3 15 99105212C> T null R W 5 5 missense 0.616 possibly damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs551225973 15q26.3 15 99105222C> G null T R 8 8 2.0E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1397643682 15q26.3 15 99105224G> C null G R 9 9 missense 0.315 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482313 15q26.3 15 99105231A> G null E G 11 11 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs372136692 15q26.3 15 99105235G> T null K N 12 12 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482315 15q26.3 15 99105236G> A null A T 13 13 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482316 15q26.3 15 99105237C> T null A V 13 13 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1156435865 15q26.3 15 99105240A> C null E A 14 14 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781830857 15q26.3 15 99105241G> C null E D 14 14 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782463531 15q26.3 15 99105242C> T null L F 15 15 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782282302 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99105250G> T null E D 17 17 missense 0.398 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782563273 15q26.3 15 99105248G> A null E K 17 17 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782524034 15q26.3 15 99105255A> C null N T 19 19 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1203481041 15q26.3 15 99105258C> A null A D 20 20 missense 0.923 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1254684710 15q26.3 15 99105257G> A null A T 20 20 missense 0.948 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs913898773 15q26.3 15 99105260C> G null R G 21 21 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1270275435 15q26.3 15 99105261G> A null R Q 21 21 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs913898773 15q26.3 15 99105260C> T null R W 21 21 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782653394 15q26.3 15 99105267A> G null Y C 23 23 missense 0.222 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1043828683 15q26.3 15 99105269G> A null D N 24 24 missense 0.894 possibly damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782238338 15q26.3 15 99105275G> A null V M 26 26 missense 0.682 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782357212 15q26.3 15 99105282G> C null R P 28 28 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1247076812 15q26.3 15 99105284G> C null V L 29 29 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1247076812 15q26.3 15 99105284G> A null V M 29 29 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs113288259 15q26.3 15 99105288G> T null R L 30 30 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs113288259 cosmic curated [Cosmic]: breast cosmic_study:414 15q26.3 15 99105288G> A null R Q 30 30 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482345 15q26.3 15 99105294T> G null L R 32 32 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs533870583 15q26.3 15 99105293C> G null L V 32 32 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs567300957 15q26.3 15 99105296G> A null E K 33 33 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs567300957 15q26.3 15 99105296G> C null E Q 33 33 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1390509121 15q26.3 15 99105300G> A null R H 34 34 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482348 15q26.3 15 99105299C> A null R S 34 34 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs537499880 15q26.3 15 99105302G> A null E K 35 35 5.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482354 15q26.3 15 99105309T> C null L P 37 37 missense 0.921 probably damaging 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482355 15q26.3 15 99105311C> T null L F 38 38 missense 0.315 benign 0.31 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1015814629 15q26.3 15 99105320G> A null E K 41 41 missense 0.557 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782719666 15q26.3 15 99105324A> G null E G 42 42 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781801333 15q26.3 15 99105326C> G null L V 43 43 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482359 15q26.3 15 99105332G> T null G C 45 45 missense 0.127 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482362 15q26.3 15 99105336G> A null R Q 46 46 missense 0.493 possibly damaging 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201246890 15q26.3 15 99105335C> T null R W 46 46 missense 0.233 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782787360 15q26.3 15 99105338C> A null R S 47 47 missense 0.313 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482363 15q26.3 15 99105342G> A null G E 48 48 missense 0.844 possibly damaging 0.27 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482364 15q26.3 15 99105344C> T null R * 49 49 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482365 15q26.3 15 99105345G> A null R Q 49 49 missense 0.0 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781863326 15q26.3 15 99105347G> A null E K 50 50 missense 0.686 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782507279 15q26.3 15 99105350G> A null G S 51 51 missense 0.02 benign 0.83 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482368 15q26.3 15 99105357G> A null W * 53 53 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482369 15q26.3 15 99105360C> T null A V 54 54 missense 0.075 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482372 15q26.3 15 99105362G> A null E K 55 55 missense 0.244 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs571837118 15q26.3 15 99105365G> A null G R 56 56 7.99E-4 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs571837118 15q26.3 15 99105365G> C null G R 56 56 7.99E-4 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482377 15q26.3 15 99105369A> G null Q R 57 57 missense 0.897 possibly damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1367107502 15q26.3 15 99105372C> A null A D 58 58 missense 0.962 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1367107502 15q26.3 15 99105372C> T null A V 58 58 missense 0.159 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1295206104 15q26.3 15 99105374C> T null R C 59 59 missense 0.233 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1429768237 15q26.3 15 99105375G> A null R H 59 59 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1429768237 15q26.3 15 99105375G> C null R P 59 59 missense 0.984 probably damaging 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1026760724 15q26.3 15 99105378G> T null C F 60 60 missense 0.0 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1026760724 15q26.3 15 99105378G> A null C Y 60 60 missense 0.001 benign 0.7 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1325093934 15q26.3 15 99105380G> T null A S 61 61 missense 0.959 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs969783493 15q26.3 15 99105383G> A null E K 62 62 missense 0.112 benign 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482382 15q26.3 15 99105395A> G null S G 66 66 missense 0.003 benign 0.78 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482383 15q26.3 15 99105396G> C null S T 66 66 missense 0.149 benign 0.68 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482387 15q26.3 15 99105401C> T null R W 68 68 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1163511714 15q26.3 15 99105404C> T null Q * 69 69 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1163511714 15q26.3 15 99105404C> G null Q E 69 69 missense 0.018 benign 0.22 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1430894261 15q26.3 15 99105408A> G null Q R 70 70 missense 0.925 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1166556187 15q26.3 15 99105415C> G null D E 72 72 missense 0.253 benign 0.6 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs539258983 15q26.3 15 99105416G> A null E K 73 73 3.99E-4 missense 0.916 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs539258983 15q26.3 15 99105416G> C null E Q 73 73 3.99E-4 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482395 15q26.3 15 99105419C> G null L V 74 74 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482396 15q26.3 15 99105424C> G null S R 75 75 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1247533862 15q26.3 15 99105425T> G null W G 76 76 missense 0.025 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1201220509 15q26.3 15 99105428G> T null A S 77 77 missense 0.06 benign 0.28 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1201220509 15q26.3 15 99105428G> A null A T 77 77 missense 0.06 benign 0.2 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1449939254 15q26.3 15 99105429C> T null A V 77 77 missense 0.637 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1268194535 15q26.3 15 99105434G> C null A P 79 79 missense 0.964 probably damaging 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1205938474 15q26.3 15 99105435C> T null A V 79 79 missense 0.876 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482405 15q26.3 15 99105438T> G null L R 80 80 missense 0.082 benign 0.38 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782685386 15q26.3 15 99105441C> T null A V 81 81 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1345398197 15q26.3 15 99105445G> C null E D 82 82 missense 0.803 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1433772686 15q26.3 15 99105447G> C null G A 83 83 missense 0.411 benign 0.37 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1433772686 15q26.3 15 99105447G> A null G D 83 83 missense 0.732 possibly damaging 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1276281085 15q26.3 15 99105446G> A null G S 83 83 missense 0.034 benign 0.45 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1308174648 15q26.3 15 99105450A> C null E A 84 84 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1411094372 15q26.3 15 99105451G> C null E D 84 84 missense 0.797 possibly damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1372997593 15q26.3 15 99105453G> C null R P 85 85 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1372997593 15q26.3 15 99105453G> A null R Q 85 85 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482411 15q26.3 15 99105452C> T null R W 85 85 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs547514507 15q26.3 15 99105457C> G null D E 86 86 0.002995 missense 0.384 benign 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782282572 15q26.3 15 99105456A> G null D G 86 86 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482413 15q26.3 15 99105458G> C null A P 87 87 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482416 15q26.3 15 99105465G> A null R Q 89 89 missense 0.286 benign 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482414 15q26.3 15 99105464C> T null R W 89 89 missense 0.989 probably damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482418 15q26.3 15 99105467C> T null R C 90 90 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482419 15q26.3 15 99105468G> A null R H 90 90 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1484066739 15q26.3 15 99105471A> C null E A 91 91 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,gnomAD rs572758567 15q26.3 15 99105473C> G null L V 92 92 2.0E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1249562508 15q26.3 15 99105476C> T null R W 93 93 missense 0.015 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1203685288 15q26.3 15 99105479G> T null E * 94 94 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1217253530 15q26.3 15 99105481G> C null E D 94 94 missense 0.104 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1203685288 15q26.3 15 99105479G> A null E K 94 94 missense 0.928 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482431 15q26.3 15 99105483T> C null L P 95 95 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482429 15q26.3 15 99105482C> G null L V 95 95 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1555482435 15q26.3 15 99105486A> T null Q L 96 96 missense 0.798 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1229718537 15q26.3 15 99105492T> C null L P 98 98 missense 0.943 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482442 15q26.3 15 99105498C> A null A E 100 100 missense 0.015 benign 0.64 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1442035826 15q26.3 15 99105510C> A null A D 104 104 missense 0.178 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1296957676 15q26.3 15 99105509G> A null A T 104 104 missense 0.141 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1336629374 15q26.3 15 99105525T> A null L Q 109 109 missense 0.662 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1468539047 15q26.3 15 99105527G> A null D N 110 110 missense 0.258 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1160123389 15q26.3 15 99105530G> C null A P 111 111 missense 0.305 benign 0.21 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1473634302 15q26.3 15 99105533G> T null E * 112 112 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1473634302 15q26.3 15 99105533G> A null E K 112 112 missense 0.854 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782647218 15q26.3 15 99105543C> T null A V 115 115 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes rs543379709 15q26.3 15 99105547G> C null Q H 116 116 2.0E-4 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1239131667 15q26.3 15 99105550G> C null Q H 117 117 missense 0.006 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1473119271 15q26.3 15 99105549A> T null Q L 117 117 missense 0.109 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1460667314 15q26.3 15 99105555A> T null E V 119 119 missense 0.804 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1268405257 15q26.3 15 99105558T> C null L P 120 120 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1210132444 15q26.3 15 99105561A> C null Q P 121 121 missense 0.898 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1326471812 15q26.3 15 99105563G> C null E Q 122 122 missense 0.957 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1305739505 15q26.3 15 99105567C> A null A E 123 123 missense 0.056 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1380582931 15q26.3 15 99105572G> T null G C 125 125 missense 0.889 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1380582931 15q26.3 15 99105572G> C null G R 125 125 missense 0.072 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482458 15q26.3 15 99105582C> A null A D 128 128 missense 0.019 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1321474808 15q26.3 15 99105581G> A null A T 128 128 missense 0.368 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782230021 15q26.3 15 99105585C> A null A D 129 129 missense 0.082 benign 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1343641444 15q26.3 15 99105584G> A null A T 129 129 missense 0.086 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482461 15q26.3 15 99105587C> T null L F 130 130 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482461 15q26.3 15 99105587C> A null L I 130 130 missense 0.875 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1415901700 15q26.3 15 99105590G> A null E K 131 131 missense 0.985 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1443783606 15q26.3 15 99105594C> A null A E 132 132 missense 0.152 benign 0.22 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1443783606 15q26.3 15 99105594C> G null A G 132 132 missense 0.835 possibly damaging 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1443783606 15q26.3 15 99105594C> T null A V 132 132 missense 0.902 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1190251822 15q26.3 15 99105596C> G null L V 133 133 missense 0.081 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1259747546 15q26.3 15 99105599C> A null L M 134 134 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482468 15q26.3 15 99105600T> G null L R 134 134 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1259747546 15q26.3 15 99105599C> G null L V 134 134 missense 0.978 probably damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1555482470 15q26.3 15 99105602G> T null G C 135 135 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482473 15q26.3 15 99105606G> A null R Q 136 136 missense 0.209 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1359192990 15q26.3 15 99105609T> A null L Q 137 137 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482479 15q26.3 15 99105615C> T null A V 139 139 missense 0.869 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1360187749 15q26.3 15 99105619G> C null E D 140 140 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482482 15q26.3 15 99105620C> T null R C 141 141 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482485 15q26.3 15 99105621G> T null R L 141 141 missense 0.96 probably damaging 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1288457920 15q26.3 15 99105623C> T null R * 142 142 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482489 15q26.3 15 99105627G> A null G D 143 143 missense 0.081 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781942400 15q26.3 15 99105634C> A null D E 145 145 missense 0.036 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482494 15q26.3 15 99105632G> A null D N 145 145 missense 0.086 benign 0.47 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482499 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99105636C> A null A E 146 146 missense 0.375 benign 0.98 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782059959 15q26.3 15 99105635G> A null A T 146 146 missense 0.867 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482499 15q26.3 15 99105636C> T null A V 146 146 missense 0.927 probably damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482501 15q26.3 15 99105638G> A null A T 147 147 missense 0.897 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482502 15q26.3 15 99105639C> T null A V 147 147 missense 0.247 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1555482509 15q26.3 15 99105642A> C null H P 148 148 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482508 15q26.3 15 99105641C> T null H Y 148 148 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1351622295 15q26.3 15 99105646A> T null E D 149 149 missense 0.149 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482512 15q26.3 15 99105647C> A null R S 150 150 missense 0.859 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs370438116 15q26.3 15 99105652C> G null D E 151 151 missense 0.033 benign 0.48 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1390703444 15q26.3 15 99105654T> C null V A 152 152 missense 0.968 probably damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1423999447 15q26.3 15 99105653G> A null V M 152 152 missense 0.995 probably damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1260638166 15q26.3 15 99105659G> C null E Q 154 154 missense 0.92 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1191375087 15q26.3 15 99105662C> G null L V 155 155 missense 0.534 possibly damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1359445821 15q26.3 15 99105665C> T null R C 156 156 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482526 15q26.3 15 99105666G> A null R H 156 156 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482527 15q26.3 15 99105669C> A null A E 157 157 missense 0.09 benign 0.33 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1230098414 15q26.3 15 99105672G> C null R P 158 158 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482531 15q26.3 15 99105671C> A null R S 158 158 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482534 15q26.3 15 99105674G> T null A S 159 159 missense 0.502 possibly damaging 0.17 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482534 15q26.3 15 99105674G> A null A T 159 159 missense 0.863 possibly damaging 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1295126753 15q26.3 15 99105675C> T null A V 159 159 missense 0.113 benign 0.39 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1369985847 15q26.3 15 99105677G> T null A S 160 160 missense 0.202 benign 0.26 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1369985847 15q26.3 15 99105677G> A null A T 160 160 missense 0.261 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782758279 15q26.3 15 99105682C> G null S R 161 161 missense 0.007 benign 0.49 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1371139462 15q26.3 15 99105684T> C null L P 162 162 missense 0.16 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1404376113 15q26.3 15 99105683C> G null L V 162 162 missense 0.16 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1309724335 15q26.3 15 99105686A> G null T A 163 163 missense 0.508 possibly damaging 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1460304366 15q26.3 15 99105687C> A null T N 163 163 missense 0.784 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482543 15q26.3 15 99105691G> A null M I 164 164 missense 0.086 benign 0.13 tolerated - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482545 15q26.3 15 99105692C> T null H Y 165 165 missense 0.844 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1372224318 15q26.3 15 99105695T> A null F I 166 166 missense 0.149 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1372224318 15q26.3 15 99105695T> G null F V 166 166 missense 0.025 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs551357888 15q26.3 15 99105698C> T null R C 167 167 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1426768760 15q26.3 15 99105702C> A null A D 168 168 missense 0.951 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1434607026 15q26.3 15 99105701G> T null A S 168 168 missense 0.882 possibly damaging 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482557 15q26.3 15 99105708C> T null A V 170 170 missense 0.139 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567272015 15q26.3 15 99105713G> A null G S 172 172 missense 0.209 benign 0.17 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC rs782077919 15q26.3 15 99105716C> G null P A 173 173 missense 1.0 probably damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1253203843 15q26.3 15 99105717C> A null P H 173 173 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC rs782077919 15q26.3 15 99105716C> T null P S 173 173 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1251158444 15q26.3 15 99105723C> T null A V 175 175 missense 0.027 benign 0.65 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1281586942 15q26.3 15 99105725C> G null P A 176 176 missense 0.879 possibly damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1281586942 15q26.3 15 99105725C> T null P S 176 176 missense 0.923 probably damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482575 15q26.3 15 99105732C> T null P L 178 178 missense 0.046 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482578 15q26.3 15 99105734C> T null R C 179 179 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482579 15q26.3 15 99105735G> A null R H 179 179 missense 0.17 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482583 15q26.3 15 99105741G> C null R P 181 181 missense 0.914 probably damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482583 15q26.3 15 99105741G> A null R Q 181 181 missense 0.031 benign 0.48 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482580 15q26.3 15 99105740C> T null R W 181 181 missense 0.924 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs12912663 15q26.3 15 99105744A> T null E V 182 182 missense 0.844 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482586 15q26.3 15 99105756G> A null S N 186 186 missense 0.559 possibly damaging 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed rs782652806 15q26.3 15 99105768T> C null L P 190 190 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112146171 15q26.3 15 99105770G> T null V L 191 191 0.003395 missense 0.072 benign 0.36 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112146171 15q26.3 15 99105770G> C null V L 191 191 0.003395 missense 0.072 benign 0.36 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373403078 15q26.3 15 99105786G> T null R L 196 196 2.0E-4 missense 0.905 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373403078 15q26.3 15 99105786G> C null R P 196 196 2.0E-4 missense 0.964 probably damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373403078 15q26.3 15 99105786G> A null R Q 196 196 2.0E-4 missense 0.125 benign 0.31 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1472634299 15q26.3 15 99105785C> T null R W 196 196 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1555482595 15q26.3 15 99105789A> G null E G 197 197 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1179024906 15q26.3 15 99105792C> T null T M 198 198 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1555482600 15q26.3 15 99105795T> G null V G 199 199 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,dbSNP,gnomAD rs5030689 15q26.3 15 99105797C> T null Q * 200 200 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377708395 15q26.3 15 99105800C> A null L M 201 201 missense 0.477 possibly damaging 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs371419668 15q26.3 15 99105808G> C null E D 203 203 0.005791 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1261536523 15q26.3 15 99105811C> G null D E 204 204 missense 0.26 benign 0.51 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482606 15q26.3 15 99105812G> T null E * 205 205 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482606 15q26.3 15 99105812G> C null E Q 205 205 missense 0.411 benign 0.41 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482607 15q26.3 15 99105815G> A null V M 206 206 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1203197911 15q26.3 15 99105818C> T null R C 207 207 missense 0.233 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1262628092 15q26.3 15 99105823G> C null E D 208 208 missense 0.88 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1262628092 15q26.3 15 99105823G> T null E D 208 208 missense 0.88 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781983716 15q26.3 15 99105821G> A null E K 208 208 missense 0.85 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1236974126 15q26.3 15 99105824C> G null L V 209 209 missense 0.902 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1335145165 15q26.3 15 99105828A> C null E A 210 210 missense 0.805 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1313322769 15q26.3 15 99105829G> C null E D 210 210 missense 0.234 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1335145165 15q26.3 15 99105828A> G null E G 210 210 missense 0.234 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482615 15q26.3 15 99105842C> T null R C 215 215 missense 0.401 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482617 15q26.3 15 99105843G> A null R H 215 215 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482622 15q26.3 15 99105846G> C null G A 216 216 missense 0.969 probably damaging 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482621 15q26.3 15 99105845G> T null G C 216 216 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482621 15q26.3 15 99105845G> A null G S 216 216 missense 0.982 probably damaging 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482623 15q26.3 15 99105848C> T null Q * 217 217 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482623 15q26.3 15 99105848C> G null Q E 217 217 missense 0.015 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1454399481 15q26.3 15 99105849A> C null Q P 217 217 missense 0.828 possibly damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482627 15q26.3 15 99105857A> G null R G 220 220 missense 0.944 probably damaging 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes rs549266157 15q26.3 15 99105860C> T null L F 221 221 2.0E-4 missense 0.847 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482630 15q26.3 15 99105861T> C null L P 221 221 missense 0.786 possibly damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782227705 15q26.3 15 99105863C> T null Q * 222 222 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1457494081 15q26.3 15 99105865G> C null Q H 222 222 missense 0.712 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482633 15q26.3 15 99105864A> T null Q L 222 222 missense 0.199 benign 0.35 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs764724634 15q26.3 15 99105866G> A null A T 223 223 missense 0.426 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781931807 15q26.3 15 99105869G> A null E K 224 224 missense 0.973 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782049192 15q26.3 15 99105878A> G null T A 227 227 missense 0.007 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782786777 15q26.3 15 99105879C> A null T K 227 227 missense 0.611 possibly damaging 0.31 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782786777 15q26.3 15 99105879C> T null T M 227 227 missense 0.091 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782786777 15q26.3 15 99105879C> G null T R 227 227 missense 0.831 possibly damaging 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782120693 15q26.3 15 99105882G> T null R L 228 228 missense 0.461 possibly damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782120693 15q26.3 15 99105882G> C null R P 228 228 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782120693 15q26.3 15 99105882G> A null R Q 228 228 missense 0.46 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482644 15q26.3 15 99105881C> T null R W 228 228 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1264088985 15q26.3 15 99105885T> C null L P 229 229 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781831400 15q26.3 15 99105884C> G null L V 229 229 missense 0.841 possibly damaging 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs775197709 15q26.3 15 99105889C> A null C * 230 230 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1203524814 15q26.3 15 99105888G> T null C F 230 230 missense 0.072 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482649 15q26.3 15 99105887T> C null C R 230 230 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1203524814 15q26.3 15 99105888G> A null C Y 230 230 missense 0.845 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs531355545 15q26.3 15 99105891C> A null A E 231 231 0.003794 missense 1.0 probably damaging 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs531355545 15q26.3 15 99105891C> G null A G 231 231 0.003794 missense 1.0 probably damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782538223 15q26.3 15 99105890G> C null A P 231 231 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782538223 15q26.3 15 99105890G> T null A S 231 231 missense 1.0 probably damaging 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782538223 15q26.3 15 99105890G> A null A T 231 231 missense 1.0 probably damaging 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs531355545 15q26.3 15 99105891C> T null A V 231 231 0.003794 missense 1.0 probably damaging 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1435504580 15q26.3 15 99105895G> C null Q H 232 232 missense 0.062 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782197393 15q26.3 15 99105893C> A null Q K 232 232 missense 0.043 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782304866 15q26.3 15 99105894A> T null Q L 232 232 missense 0.062 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782304866 15q26.3 15 99105894A> G null Q R 232 232 missense 0.043 benign 0.3 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1381190808 15q26.3 15 99105897A> C null E A 233 233 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1381190808 15q26.3 15 99105897A> G null E G 233 233 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782032860 15q26.3 15 99105896G> A null E K 233 233 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782032860 15q26.3 15 99105896G> C null E Q 233 233 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782380449 15q26.3 15 99105899G> A null A T 234 234 missense 0.894 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1427174505 15q26.3 15 99105900C> T null A V 234 234 missense 0.214 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a dbSNP rs60530833 15q26.3 15 99105902du p null E null 235 235 frameshift 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs200549249 15q26.3 15 99105903A> C null E A 235 235 missense 0.263 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs200549249 15q26.3 15 99105903A> G null E G 235 235 missense 0.062 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482660 15q26.3 15 99105906C> A null A E 236 236 missense 0.735 possibly damaging 0.21 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482660 15q26.3 15 99105906C> T null A V 236 236 missense 0.077 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed rs782720545 15q26.3 15 99105911C> G null R G 238 238 missense 0.02 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782167493 15q26.3 15 99105912G> T null R L 238 238 missense 0.049 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782167493 15q26.3 15 99105912G> A null R Q 238 238 missense 0.02 benign 0.4 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs150690767 15q26.3 15 99105914C> T null R C 239 239 0.001597 missense 0.071 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781864601 15q26.3 15 99105915G> A null R H 239 239 missense 0.045 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781864601 15q26.3 15 99105915G> T null R L 239 239 missense 0.525 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs150690767 15q26.3 15 99105914C> A null R S 239 239 0.001597 missense 0.208 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1224805532 15q26.3 15 99105917G> T null E * 240 240 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482681 15q26.3 15 99105919G> T null E D 240 240 missense 0.018 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482680 15q26.3 15 99105918A> G null E G 240 240 missense 0.425 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1224805532 15q26.3 15 99105917G> A null E K 240 240 missense 0.019 benign 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC rs782453410 15q26.3 15 99105921C> G null A G 241 241 missense 0.83 possibly damaging 0.28 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC rs781819805 15q26.3 15 99105920G> T null A S 241 241 missense 0.575 possibly damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC rs782546315 15q26.3 15 99105923C> A null L I 242 242 missense 0.209 benign 0.32 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1290916071 15q26.3 15 99105927G> A null G E 243 243 missense 0.0 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1290916071 15q26.3 15 99105927G> T null G V 243 243 missense 0.173 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC rs782342328 15q26.3 15 99105926G> T null G W 243 243 missense 0.926 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482690 15q26.3 15 99105933A> C null E A 245 245 missense 0.149 benign 0.37 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482690 15q26.3 15 99105933A> G null E G 245 245 missense 0.105 benign 0.21 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs979388201 15q26.3 15 99105935C> G null Q E 246 246 missense 0.557 possibly damaging 0.38 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482694 15q26.3 15 99105937G> C null Q H 246 246 missense 0.94 probably damaging 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes rs571341865 15q26.3 15 99105939T> C null L P 247 247 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes rs571341865 15q26.3 15 99105939T> A null L Q 247 247 2.0E-4 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs767930656 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99105941C> T null R C 248 248 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs767930656 15q26.3 15 99105941C> G null R G 248 248 missense 0.977 probably damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs925256483 15q26.3 15 99105944G> C null A P 249 249 missense 0.976 probably damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482710 15q26.3 15 99105948G> T null R L 250 250 missense 0.01 benign 0.32 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482708 15q26.3 15 99105947C> T null R W 250 250 missense 0.888 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1555482722 15q26.3 15 99105951T> A null L Q 251 251 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482731 15q26.3 15 99105959G> C null A P 254 254 missense 0.192 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs868964899 15q26.3 15 99105965C> A null L M 256 256 missense 0.328 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs868986700 15q26.3 15 99105966T> G null L R 256 256 missense 0.059 benign 0.28 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs3184104 15q26.3 15 99105969G> A null R Q 257 257 missense 0.989 probably damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782425561 15q26.3 15 99105973G> A null M I 258 258 missense 0.187 benign 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482738 15q26.3 15 99105972T> A null M K 258 258 missense 0.373 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs932744574 15q26.3 15 99105971A> C null M L 258 258 missense 0.017 benign 0.46 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs932744574 15q26.3 15 99105971A> G null M V 258 258 missense 0.017 benign 0.29 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1422021364 15q26.3 15 99105979G> T null E D 260 260 missense 0.059 benign 0.52 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1166500345 15q26.3 15 99105980G> T null E * 261 261 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1166500345 15q26.3 15 99105980G> C null E Q 261 261 missense 0.713 possibly damaging 0.31 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781856372 15q26.3 15 99105984du p null Y * 262 262 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1475244829 15q26.3 15 99105983T> C null Y H 262 262 missense 0.132 benign 0.36 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482744 15q26.3 15 99105987G> T null G V 263 263 missense 0.36 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1201744453 15q26.3 15 99105989A> C null I L 264 264 missense 0.0 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1201744453 15q26.3 15 99105989A> G null I V 264 264 missense 0.003 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782119707 15q26.3 15 99105993A> T null Q L 265 265 missense 0.149 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782119707 15q26.3 15 99105993A> C null Q P 265 265 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs140039713 15q26.3 15 99105996C> A null A D 266 266 0.001797 missense 0.717 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs140039713 15q26.3 15 99105996C> G null A G 266 266 0.001797 missense 0.025 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs944214205 15q26.3 15 99105995G> A null A T 266 266 missense 0.059 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs140039713 15q26.3 15 99105996C> T null A V 266 266 0.001797 missense 0.025 benign 0.89 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1195008115 15q26.3 15 99105999A> G null E G 267 267 missense 0.343 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1270695868 15q26.3 15 99105998G> A null E K 267 267 missense 0.033 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1270695868 15q26.3 15 99105998G> C null E Q 267 267 missense 0.082 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782711514 15q26.3 15 99106001G> A null E K 268 268 missense 0.903 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782711514 15q26.3 15 99106001G> C null E Q 268 268 missense 0.967 probably damaging 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781788715 15q26.3 15 99106004C> G null R G 269 269 missense 0.148 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555482752 15q26.3 15 99106005G> T null R L 269 269 missense 0.148 benign 0.45 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs995200612 15q26.3 15 99106007C> G null Q E 270 270 missense 0.202 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes rs546665368 15q26.3 15 99113592G> A null R K 271 271 2.0E-4 missense 0.347 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2305445 15q26.3 15 99113595T> C null V A 272 272 0.4253 missense 0.034 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555483617 15q26.3 15 99113594G> A null V M 272 272 missense 0.135 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555483618 15q26.3 15 99113600G> A null D N 274 274 missense 0.192 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555483618 15q26.3 15 99113600G> T null D Y 274 274 missense 0.919 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555483620 15q26.3 15 99113603T> C null C R 275 275 missense 0.029 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555483621 15q26.3 15 99113604G> C null C S 275 275 missense 0.012 benign 0.28 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782050210 15q26.3 15 99113609G> A null E K 277 277 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367590163 15q26.3 15 99113613A> G null D G 278 278 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567275796 15q26.3 15 99113612G> A null D N 278 278 missense 0.657 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs964973056 15q26.3 15 99113616A> T null E V 279 279 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1432171504 15q26.3 15 99113619A> G null K R 280 280 missense 0.278 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1408121161 15q26.3 15 99113625C> G null T S 282 282 missense 0.043 benign 0.84 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1178385145 15q26.3 15 99113627C> T null L F 283 283 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1178385145 15q26.3 15 99113627C> G null L V 283 283 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200086113 15q26.3 15 99113631C> T null T I 284 284 2.0E-4 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555483628 15q26.3 15 99113630A> T null T S 284 284 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782744370 15q26.3 15 99113637C> T null A V 286 286 missense 0.207 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782063503 15q26.3 15 99113639A> C null M L 287 287 missense 0.036 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782063503 15q26.3 15 99113639A> G null M V 287 287 missense 0.328 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1265311041 15q26.3 15 99113645G> C null D H 289 289 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs189403249 15q26.3 15 99113649G> C null W S 290 290 2.0E-4 missense 0.043 benign 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147849824 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99113655G> A null R Q 292 292 3.99E-4 missense 0.366 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781899355 15q26.3 15 99113654C> T null R W 292 292 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782773711 15q26.3 15 99113659C> G null D E 293 293 missense 0.306 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1285189273 15q26.3 15 99113658A> G null D G 293 293 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781866526 15q26.3 15 99113661A> G null Y C 294 294 missense 0.222 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1225577363 15q26.3 15 99113660T> C null Y H 294 294 missense 0.149 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781866526 15q26.3 15 99113661A> C null Y S 294 294 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555483640 15q26.3 15 99113677G> T null Q H 299 299 missense 0.073 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1453214098 15q26.3 15 99113678G> T null V L 300 300 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555483641 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99113688G> A null G D 303 303 missense 0.924 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs782615428 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99113687G> A null G S 303 303 missense 0.244 benign 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs141391292 15q26.3 15 99113697T> C null L P 306 306 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,gnomAD rs372257365 15q26.3 15 99113699G> T null E * 307 307 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782276091 15q26.3 15 99113706C> G null A G 309 309 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782276091 15q26.3 15 99113706C> T null A V 309 309 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369860014 15q26.3 15 99113715G> A null R Q 312 312 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782215242 15q26.3 15 99113714C> T null R W 312 312 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1042016077 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99126723G> A null A T 313 313 missense 0.967 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1461991837 15q26.3 15 99126724C> T null A V 313 313 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782180916 15q26.3 15 99126738G> A null E K 318 318 missense 0.992 probably damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1285002825 15q26.3 15 99126741A> G null S G 319 319 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485057 15q26.3 15 99126742G> A null S N 319 319 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485062 15q26.3 15 99126748C> T null P L 321 321 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782418313 15q26.3 15 99126747C> A null P T 321 321 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782010202 15q26.3 15 99126754T> G null I R 323 323 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782010202 15q26.3 15 99126754T> C null I T 323 323 missense 0.925 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782252541 15q26.3 15 99126764G> A null W * 326 326 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782252541 15q26.3 15 99126764G> T null W C 326 326 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781976862 15q26.3 15 99126766C> A null A D 327 327 missense 0.085 benign 0.23 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782361983 15q26.3 15 99126765G> T null A S 327 327 missense 0.009 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369300610 15q26.3 15 99126768G> C null E Q 328 328 missense 0.856 possibly damaging 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782720641 15q26.3 15 99126773C> A null H Q 329 329 missense 0.312 benign 0.23 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782169827 15q26.3 15 99126775T> A null V D 330 330 missense 0.346 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs5030691 pubmed:11454237 15q26.3 15 99126774G> A null V I 330 330 0.07528 missense 0.001 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5030691 15q26.3 15 99126774G> C null V L 330 330 0.07528 missense 0.003 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs868983084 15q26.3 15 99126777G> T null E * 331 331 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782810454 15q26.3 15 99126779A> T null E D 331 331 missense 0.961 probably damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs868983084 15q26.3 15 99126777G> A null E K 331 331 missense 0.967 probably damaging 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485072 15q26.3 15 99126783A> G null M V 333 333 missense 0.0 benign 0.86 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781871238 15q26.3 15 99126787C> T null P L 334 334 missense 0.218 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485082 15q26.3 15 99126790C> T null S L 335 335 missense 0.133 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs898156647 15q26.3 15 99129372A> G null R G 338 338 missense 0.331 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,TOPMed,gnomAD rs371133008 15q26.3 15 99129373G> C null R T 338 338 missense 0.967 probably damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373912780 15q26.3 15 99129389C> A null H Q 343 343 missense 0.003 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373912780 15q26.3 15 99129389C> G null H Q 343 343 missense 0.003 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1395840395 15q26.3 15 99129391A> G null Y C 344 344 missense 0.16 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371251399 15q26.3 15 99129396G> A null D N 346 346 missense 0.007 benign 0.47 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782022101 15q26.3 15 99129402C> G null L V 348 348 missense 0.0 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485363 15q26.3 15 99129406T> C null L P 349 349 missense 0.921 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs763067856 15q26.3 15 99129410G> C null Q H 350 350 missense 0.25 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs868934081 15q26.3 15 99129408C> A null Q K 350 350 missense 0.734 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782062605 15q26.3 15 99129412G> A null R K 351 351 missense 0.105 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782705010 15q26.3 15 99129413G> T null R S 351 351 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1176370679 15q26.3 15 99129415A> T null E V 352 352 missense 0.477 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781902368 15q26.3 15 99129420G> T null E * 354 354 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs782144896 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99129421A> G null E G 354 354 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782772728 15q26.3 15 99129425G> C null R S 355 355 missense 0.328 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,TOPMed,dbSNP,gnomAD rs3743242 pubmed:11737198,pubmed:15489334 15q26.3 15 99129423A> T null R W 355 355 0.1476 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782489690 15q26.3 15 99129428T> A null N K 356 356 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs971108707 15q26.3 15 99129427A> C null N T 356 356 missense 0.925 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782600325 15q26.3 15 99129429C> G null L V 357 357 missense 0.364 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485378 15q26.3 15 99129442A> G null Q R 361 361 missense 0.036 benign 0.22 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs543392968 15q26.3 15 99129445A> G null K R 362 362 missense 0.996 probably damaging 0.33 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1254705544 15q26.3 15 99129448C> A null A E 363 363 missense 0.71 possibly damaging 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1254705544 15q26.3 15 99129448C> T null A V 363 363 missense 0.073 benign 0.76 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs202151579 15q26.3 15 99129450C> T null P S 364 364 missense 0.031 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs202151579 15q26.3 15 99129450C> A null P T 364 364 missense 0.027 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782282943 15q26.3 15 99129457C> G null A G 366 366 missense 0.02 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485386 15q26.3 15 99129460G> A null S N 367 367 missense 0.012 benign 0.7 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485387 15q26.3 15 99129463T> A null F Y 368 368 missense 0.303 benign 0.83 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782392945 15q26.3 15 99129466A> G null N S 369 369 missense 0.013 benign 0.76 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485389 15q26.3 15 99129468C> A null H N 370 370 missense 0.444 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782637067 15q26.3 15 99129469A> C null H P 370 370 missense 0.029 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782637067 15q26.3 15 99129469A> G null H R 370 370 missense 0.012 benign 0.32 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485389 15q26.3 15 99129468C> T null H Y 370 370 missense 0.713 possibly damaging 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782224745 15q26.3 15 99129471A> G null S G 371 371 missense 0.0 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782324812 15q26.3 15 99129475C> T null S L 372 372 missense 0.013 benign 0.79 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1312183606 15q26.3 15 99129481T> C null L P 374 374 missense 0.02 benign 0.26 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1420128099 15q26.3 15 99129487C> G null S C 376 376 missense 0.959 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782400600 15q26.3 15 99129491C> G null N K 377 377 missense 0.007 benign 0.63 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782400600 15q26.3 15 99129491C> A null N K 377 377 missense 0.007 benign 0.63 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782157651 15q26.3 15 99129490A> G null N S 377 377 missense 0.005 benign 0.57 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782113960 15q26.3 15 99129503C> A null H Q 381 381 missense 0.013 benign 0.91 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs569686388 15q26.3 15 99129504C> T null R C 382 382 2.0E-4 missense 0.62 possibly damaging 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782069904 15q26.3 15 99129505G> A null R H 382 382 missense 0.616 possibly damaging 0.54 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485399 15q26.3 15 99129511C> T null S F 384 384 missense 0.334 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373616613 15q26.3 15 99129514A> C null Q P 385 385 missense 0.03 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367716061 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129517C> T null T M 386 386 missense 0.092 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367716061 15q26.3 15 99129517C> G null T R 386 386 missense 0.022 benign 0.2 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs914470407 15q26.3 15 99129528A> G null I V 390 390 missense 0.001 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782487161 15q26.3 15 99129535G> A null G D 392 392 missense 0.287 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782487161 15q26.3 15 99129535G> T null G V 392 392 missense 0.568 possibly damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1247171585 15q26.3 15 99129543A> G null R G 395 395 missense 0.007 benign 0.6 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485403 15q26.3 15 99129546A> T null R * 396 396 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs558695170 15q26.3 15 99129547G> T null R I 396 396 2.0E-4 missense 0.763 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs558695170 15q26.3 15 99129547G> C null R T 396 396 2.0E-4 missense 0.784 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485405 15q26.3 15 99129549G> A null G S 397 397 missense 0.216 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376775614 15q26.3 15 99129562C> T null S L 401 401 2.0E-4 missense 0.039 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782255135 15q26.3 15 99129561T> C null S P 401 401 missense 0.025 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782209355 15q26.3 15 99129564G> C null G R 402 402 missense 0.149 benign 0.49 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782193575 15q26.3 15 99129568A> G null Y C 403 403 missense 0.067 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781927247 15q26.3 15 99129571C> T null S F 404 404 missense 0.635 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1416492414 15q26.3 15 99129574C> T null S F 405 405 missense 0.16 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs782165312 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129577C> T null S L 406 406 missense 0.001 benign 0.62 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485414 15q26.3 15 99129576T> C null S P 406 406 missense 0.007 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485416 15q26.3 15 99129580C> T null A V 407 407 missense 0.031 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782004737 15q26.3 15 99129583C> T null T I 408 408 missense 0.877 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782115557 15q26.3 15 99129586C> T null T I 409 409 missense 0.115 benign 0.34 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782115557 15q26.3 15 99129586C> A null T N 409 409 missense 0.586 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485420 15q26.3 15 99129590G> T null Q H 410 410 missense 0.525 possibly damaging 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781827727 15q26.3 15 99129591C> T null Q * 411 411 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781827727 15q26.3 15 99129591C> G null Q E 411 411 missense 0.02 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485422 15q26.3 15 99129600T> G null S A 414 414 missense 0.005 benign 0.56 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed rs782435411 15q26.3 15 99129603T> C null Y H 415 415 missense 0.042 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed rs782435411 15q26.3 15 99129603T> A null Y N 415 415 missense 0.578 possibly damaging 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs781881876 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129606G> A null G R 416 416 missense 0.375 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485423 15q26.3 15 99129613C> T null A V 418 418 missense 0.005 benign 0.33 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1319929610 15q26.3 15 99129616T> A null V D 419 419 missense 0.419 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs782620136 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129615G> A null V I 419 419 missense 0.005 benign 0.3 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs139926634 15q26.3 15 99129622G> A null S N 421 421 5.99E-4 missense 0.017 benign 0.38 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782222760 15q26.3 15 99129621A> C null S R 421 421 missense 0.029 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs575075608 15q26.3 15 99129623T> A null S R 421 421 2.0E-4 missense 0.029 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567282480 15q26.3 15 99129628C> T null T I 423 423 missense 0.807 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes rs542158230 15q26.3 15 99129627A> C null T P 423 423 2.0E-4 missense 0.093 benign 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782189479 15q26.3 15 99129630A> G null N D 424 424 missense 0.005 benign 0.44 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782022980 15q26.3 15 99129633G> A null V I 425 425 missense 0.009 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485434 15q26.3 15 99129638A> T null R S 426 426 missense 0.105 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485437 15q26.3 15 99129642T> C null F L 428 428 missense 0.012 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782263332 15q26.3 15 99129649C> T null P L 430 430 missense 0.786 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485439 15q26.3 15 99129655A> G null Y C 432 432 missense 0.012 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485440 15q26.3 15 99129658G> A null G D 433 433 missense 0.149 benign 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs200430140 15q26.3 15 99129660C> T null L F 434 434 missense 0.046 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs200430140 15q26.3 15 99129660C> A null L I 434 434 missense 0.599 possibly damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782085363 15q26.3 15 99129663T> G null L V 435 435 missense 0.012 benign 0.28 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1466723416 15q26.3 15 99129667G> T null R I 436 436 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782033480 15q26.3 15 99129670A> G null N S 437 437 missense 0.02 benign 0.35 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782327966 15q26.3 15 99129669A> T null N Y 437 437 missense 0.664 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1475321585 15q26.3 15 99129679C> T null A V 440 440 missense 0.099 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782766372 15q26.3 15 99129685T> G null V G 442 442 missense 0.085 benign 0.21 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485444 15q26.3 15 99129690A> G null T A 444 444 missense 0.16 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485446 15q26.3 15 99129695C> G null F L 445 445 missense 0.044 benign 0.33 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs563539444 15q26.3 15 99129694T> C null F S 445 445 2.0E-4 missense 0.379 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1452813569 15q26.3 15 99129696C> T null P S 446 446 missense 0.216 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1199413651 15q26.3 15 99129705C> T null P S 449 449 missense 0.121 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143663444 15q26.3 15 99129714G> T null G * 452 452 3.99E-4 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143663444 15q26.3 15 99129714G> A null G R 452 452 3.99E-4 missense 0.024 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1345565453 15q26.3 15 99129721C> G null T R 454 454 missense 0.047 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1002572046 15q26.3 15 99129723A> G null R G 455 455 missense 0.007 benign 0.22 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1231716120 15q26.3 15 99129733C> T null P L 458 458 missense 0.029 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1231716120 15q26.3 15 99129733C> G null P R 458 458 missense 0.187 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs782690979 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99129735G> A null V I 459 459 missense 0.005 benign 0.24 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485453 15q26.3 15 99129741A> G null I V 461 461 missense 0.001 benign 0.56 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781892287 15q26.3 15 99129745G> A null G D 462 462 missense 0.239 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl,dbSNP rs3134595 pubmed:15489334 15q26.3 15 99129744G> A null G S 462 462 missense 0.096 benign 0.53 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1327547136 15q26.3 15 99129750G> A null D N 464 464 missense 0.133 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782526938 15q26.3 15 99129759A> G null I V 467 467 missense 0.0 benign 0.73 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782628242 15q26.3 15 99129765C> T null R C 469 469 missense 0.78 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485461 15q26.3 15 99129769A> G null E G 470 470 missense 0.027 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs564598837 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129772C> T null S L 471 471 2.0E-4 missense 0.794 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567282608 15q26.3 15 99129776C> G null Y * 472 472 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376360810 15q26.3 15 99129778G> A null R Q 473 473 7.99E-4 missense 0.013 benign 0.48 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs782595494 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129777C> T null R W 473 473 missense 0.013 benign 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782405398 15q26.3 15 99129780G> C null D H 474 474 missense 0.694 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782405398 15q26.3 15 99129780G> T null D Y 474 474 missense 0.771 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781996130 15q26.3 15 99129783C> T null R C 475 475 missense 0.013 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368878004 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129784G> A null R H 475 475 missense 0.007 benign 0.94 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1442934378 15q26.3 15 99129786C> T null R * 476 476 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782352571 15q26.3 15 99129787G> A null R Q 476 476 missense 0.02 benign 0.32 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1280638994 15q26.3 15 99129791C> A null D E 477 477 missense 0.693 possibly damaging 0.5 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1021987983 15q26.3 15 99129801G> A null A T 481 481 missense 0.052 benign 0.3 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485467 15q26.3 15 99129805G> A null G D 482 482 missense 0.067 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781946552 15q26.3 15 99129804G> A null G S 482 482 missense 0.105 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs76228286 15q26.3 15 99129808C> G null A G 483 483 missense 0.041 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,gnomAD rs547315336 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129811C> T null S L 484 484 2.0E-4 missense 0.007 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs547315336 15q26.3 15 99129811C> G null S W 484 484 2.0E-4 missense 0.894 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781911277 15q26.3 15 99129815A> C null E D 485 485 missense 0.007 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485470 15q26.3 15 99129820C> T null T I 487 487 missense 0.631 possibly damaging 0.23 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782783110 15q26.3 15 99129823G> A null R Q 488 488 missense 0.009 benign 0.63 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs78843334 15q26.3 15 99129822C> T null R W 488 488 0.008387 missense 0.001 benign 0.2 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1241903004 15q26.3 15 99129829A> T null N I 490 490 missense 0.583 possibly damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485474 15q26.3 15 99129831G> A null E K 491 491 missense 0.596 possibly damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1278450206 15q26.3 15 99129835G> A null R K 492 492 missense 0.82 possibly damaging 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs548127820 15q26.3 15 99129840G> T null V F 494 494 2.0E-4 missense 0.769 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs548127820 15q26.3 15 99129840G> A null V I 494 494 2.0E-4 missense 0.015 benign 0.31 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782451919 15q26.3 15 99129853A> G null K R 498 498 missense 0.072 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782264224 15q26.3 15 99129855A> C null K Q 499 499 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782500160 15q26.3 15 99129864G> T null V L 502 502 missense 0.033 benign 0.64 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782500160 15q26.3 15 99129864G> C null V L 502 502 missense 0.033 benign 0.64 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782500160 15q26.3 15 99129864G> A null V M 502 502 missense 0.025 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485480 15q26.3 15 99129873A> G null T A 505 505 missense 0.046 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782617752 15q26.3 15 99129874C> A null T K 505 505 missense 0.855 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs782617752 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129874C> T null T M 505 505 missense 0.286 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs955324281 15q26.3 15 99129876A> G null R G 506 506 missense 0.043 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782318035 15q26.3 15 99129877G> A null R K 506 506 missense 0.026 benign 0.33 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485485 15q26.3 15 99129888A> G null R G 510 510 missense 0.024 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485486 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129891A> C null N H 511 511 missense 0.033 benign 0.17 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782425633 15q26.3 15 99129900G> C null E Q 514 514 missense 0.142 benign 0.5 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485488 15q26.3 15 99129904C> G null T S 515 515 missense 0.03 benign 0.33 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485489 15q26.3 15 99129907T> G null I S 516 516 missense 0.662 possibly damaging 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782009169 15q26.3 15 99129909C> T null R * 517 517 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782338116 15q26.3 15 99129910G> C null R P 517 517 missense 0.65 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs782338116 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129910G> A null R Q 517 517 missense 0.006 benign 0.82 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376244128 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99129913C> T null T I 518 518 missense 0.007 benign 0.26 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376244128 15q26.3 15 99129913C> A null T K 518 518 missense 0.007 benign 0.89 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485490 15q26.3 15 99129915A> G null K E 519 519 missense 0.782 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781959876 15q26.3 15 99129917G> C null K N 519 519 missense 0.945 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782067405 15q26.3 15 99129918C> G null P A 520 520 missense 0.149 benign 0.78 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1283104378 15q26.3 15 99129919C> T null P L 520 520 missense 0.007 benign 0.38 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782067405 15q26.3 15 99129918C> T null P S 520 520 missense 0.211 benign 0.73 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1357812777 15q26.3 15 99129932G> C null M I 524 524 missense 0.05 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781885304 15q26.3 15 99129936G> A null D N 526 526 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782509591 15q26.3 15 99129942A> G null K E 528 528 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs782238578 15q26.3 15 99129957G> T null E * 533 533 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs782238578 15q26.3 15 99129957G> A null E K 533 533 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485497 15q26.3 15 99129973G> A null R K 538 538 missense 0.944 probably damaging 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs551837344 15q26.3 15 99129975T> C null W R 539 539 2.0E-4 missense 1.0 probably damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1406077691 15q26.3 15 99129981G> A null E K 541 541 missense 0.987 probably damaging 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181135818 15q26.3 15 99129984T> A null L M 542 542 9.98E-4 missense 0.967 probably damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1474844098 15q26.3 15 99129988C> T null T I 543 543 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1484767896 15q26.3 15 99129992G> C null K N 544 544 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782577182 15q26.3 15 99129997A> G null D G 546 546 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1221815962 15q26.3 15 99129999A> G null K E 547 547 missense 0.923 probably damaging 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782178027 15q26.3 15 99130006C> A null A E 549 549 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs782178027 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99130006C> T null A V 549 549 missense 0.903 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485504 15q26.3 15 99130009G> A null R K 550 550 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1270758265 15q26.3 15 99130015G> C null R T 552 552 missense 0.596 possibly damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1052814567 15q26.3 15 99130029A> G null M V 557 557 missense 0.132 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1334776486 15q26.3 15 99130033A> G null K R 558 558 missense 0.0 benign 0.91 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs868967533 15q26.3 15 99130035G> T null E * 559 559 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs868967533 15q26.3 15 99130035G> A null E K 559 559 missense 0.637 possibly damaging 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs782377076 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99130053G> A null D N 565 565 missense 0.085 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3743244 pubmed:11454237,pubmed:11737198 15q26.3 15 99130060C> T null P L 567 567 0.1344 missense 0.0 benign 0.75 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3743244 15q26.3 15 99130060C> A null P Q 567 567 0.1344 missense 0.009 benign 0.68 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3743244 15q26.3 15 99130060C> G null P R 567 567 0.1344 missense 0.157 benign 0.67 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782381550 15q26.3 15 99130059C> T null P S 567 567 missense 0.009 benign 0.9 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485514 15q26.3 15 99130063A> G null K R 568 568 missense 0.03 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782162586 15q26.3 15 99130069A> G null K R 570 570 missense 0.018 benign 0.29 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1323989603 15q26.3 15 99130071A> C null S R 571 571 missense 0.118 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3134587 15q26.3 15 99130073C> G null S R 571 571 0.1546 missense 0.118 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1418551876 15q26.3 15 99130075T> G null V G 572 572 missense 0.287 benign 0.27 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186116529 15q26.3 15 99130074G> T null V L 572 572 3.99E-4 missense 0.225 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186116529 15q26.3 15 99130074G> A null V M 572 572 3.99E-4 missense 0.143 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed rs782728980 15q26.3 15 99130077C> T null R * 573 573 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781799861 15q26.3 15 99130078G> A null R Q 573 573 missense 0.013 benign 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485522 15q26.3 15 99130080G> C null E Q 574 574 missense 0.192 benign 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782807421 15q26.3 15 99130083A> G null R G 575 575 missense 0.149 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781893479 15q26.3 15 99130084G> T null R I 575 575 missense 0.967 probably damaging 0.21 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781893479 15q26.3 15 99130084G> C null R T 575 575 missense 0.844 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782517714 15q26.3 15 99130089G> T null V L 577 577 missense 0.098 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372657424 15q26.3 15 99130093C> T null P L 578 578 missense 0.168 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372657424 15q26.3 15 99130093C> A null P Q 578 578 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782586592 15q26.3 15 99130096T> A null I N 579 579 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782586592 15q26.3 15 99130096T> G null I S 579 579 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs532294227 15q26.3 15 99130099G> A null S N 580 580 missense 0.042 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1207274143 15q26.3 15 99130105A> G null E G 582 582 missense 0.059 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1259329690 15q26.3 15 99130104G> C null E Q 582 582 missense 0.328 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs781935697 15q26.3 15 99130107G> A null V I 583 583 missense 0.197 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368280513 15q26.3 15 99130111C> G null S C 584 584 missense 0.967 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368280513 15q26.3 15 99130111C> T null S F 584 584 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs189164814 15q26.3 15 99130114A> G null Q R 585 585 2.0E-4 missense 0.018 benign 0.56 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1373538834 15q26.3 15 99130120G> A null R K 587 587 missense 0.098 benign 0.28 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371952715 15q26.3 15 99130123G> T null R I 588 588 missense 0.013 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371952715 15q26.3 15 99130123G> A null R K 588 588 missense 0.007 benign 0.95 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP rs376879009 15q26.3 15 99130125G> A null A T 589 589 missense 0.013 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782056497 15q26.3 15 99130131G> A null V M 591 591 missense 0.087 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201950062 15q26.3 15 99130138C> T null P L 593 593 missense 0.09 benign 0.39 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201950062 15q26.3 15 99130138C> A null P Q 593 593 missense 0.605 possibly damaging 0.32 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201950062 15q26.3 15 99130138C> G null P R 593 593 missense 0.221 benign 0.29 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782304319 15q26.3 15 99130137C> T null P S 593 593 missense 0.637 possibly damaging 0.44 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs575687801 15q26.3 15 99130140A> G null K E 594 594 0.001398 missense 0.018 benign 0.22 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369973561 15q26.3 15 99130144G> C null G A 595 595 missense 0.015 benign 0.17 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369973561 15q26.3 15 99130144G> T null G V 595 595 missense 0.543 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373435565 15q26.3 15 99130153C> T null T M 598 598 2.0E-4 missense 0.059 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485542 15q26.3 15 99130158G> A null V M 600 600 missense 0.038 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485543 15q26.3 15 99130170G> T null G C 604 604 missense 0.94 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1252091470 15q26.3 15 99130176G> A null G R 606 606 missense 0.073 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781890345 15q26.3 15 99130180C> T null T I 607 607 missense 0.136 benign 0.24 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781890345 15q26.3 15 99130180C> G null T S 607 607 missense 0.041 benign 0.72 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1251234044 15q26.3 15 99130183G> C null G A 608 608 missense 0.018 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782623403 15q26.3 15 99130182G> A null G S 608 608 missense 0.019 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485545 15q26.3 15 99130188G> C null E Q 610 610 missense 0.139 benign 0.42 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs5030692 pubmed:11454237 15q26.3 15 99130195A> C null E A 612 612 0.02156 missense 0.012 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5030692 15q26.3 15 99130195A> T null E V 612 612 0.02156 missense 0.007 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1309243277 15q26.3 15 99130207T> C null L P 616 616 missense 0.005 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187133914 15q26.3 15 99130210G> T null R L 617 617 3.99E-4 missense 0.492 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187133914 15q26.3 15 99130210G> A null R Q 617 617 3.99E-4 missense 0.033 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199760153 15q26.3 15 99130209C> T null R W 617 617 2.0E-4 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782134990 15q26.3 15 99130217G> T null R S 619 619 missense 0.081 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781960912 15q26.3 15 99130221G> A null G S 621 621 missense 0.02 benign 0.5 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567283111 15q26.3 15 99130225C> A null T N 622 622 missense 0.848 possibly damaging 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1373425398 15q26.3 15 99130228G> C null S T 623 623 missense 0.021 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1172742738 15q26.3 15 99130230G> A null D N 624 624 missense 0.149 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782706967 15q26.3 15 99130237C> G null T S 626 626 missense 0.009 benign 0.5 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1052699768 15q26.3 15 99130239G> T null G C 627 627 missense 0.885 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs754559845 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99130240G> A null G D 627 627 missense 0.089 benign 0.27 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs754559845 15q26.3 15 99130240G> T null G V 627 627 missense 0.586 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376197280 15q26.3 15 99130243C> G null S C 628 628 2.0E-4 missense 0.866 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782152866 15q26.3 15 99130245C> G null L V 629 629 missense 0.073 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782758768 15q26.3 15 99130252G> A null G D 631 631 missense 0.315 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190610209 15q26.3 15 99130254G> A null D N 632 632 3.99E-4 missense 0.329 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782704072 15q26.3 15 99130261T> C null M T 634 634 missense 0.003 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,TOPMed rs375763391 15q26.3 15 99130260A> G null M V 634 634 missense 0.013 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782258168 15q26.3 15 99130273T> A null V E 638 638 missense 0.849 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs74603848 15q26.3 15 99130272G> A null V I 638 638 0.01238 missense 0.009 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74603848 15q26.3 15 99130272G> T null V L 638 638 0.01238 missense 0.055 benign 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1237053056 15q26.3 15 99130280A> C null E D 640 640 missense 0.278 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782509977 15q26.3 15 99130284A> T null I F 642 642 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782509977 15q26.3 15 99130284A> G null I V 642 642 missense 0.247 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782221876 15q26.3 15 99130287G> A null V I 643 643 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1353417085 15q26.3 15 99130291C> G null T S 644 644 missense 0.024 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782332734 15q26.3 15 99130299C> G null L V 647 647 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485567 15q26.3 15 99130306A> G null Q R 649 649 missense 0.477 possibly damaging 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1400368700 15q26.3 15 99130311A> T null T S 651 651 missense 0.121 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485573 15q26.3 15 99130314C> T null Q * 652 652 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485573 15q26.3 15 99130314C> G null Q E 652 652 missense 0.611 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1555485575 15q26.3 15 99130318C> G null S C 653 653 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1286727338 15q26.3 15 99130321C> T null P L 654 654 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1452490711 15q26.3 15 99130325G> C null E D 655 655 missense 0.007 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567283246 15q26.3 15 99130327C> G null T R 656 656 missense 0.346 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567283249 15q26.3 15 99130329G> T null E * 657 657 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485578 15q26.3 15 99130332G> A null A T 658 658 missense 0.098 benign 0.45 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782405150 15q26.3 15 99130336C> T null S F 659 659 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1416253598 15q26.3 15 99130345C> G null S C 662 662 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782098704 15q26.3 15 99130350C> T null P S 664 664 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782098704 15q26.3 15 99130350C> A null P T 664 664 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781937076 15q26.3 15 99130355C> G null D E 665 665 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781937076 15q26.3 15 99130355C> A null D E 665 665 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1264169646 15q26.3 15 99130357C> T null T I 666 666 missense 0.767 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485586 15q26.3 15 99130359A> G null K E 667 667 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781879353 15q26.3 15 99130362G> T null V F 668 668 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485588 15q26.3 15 99130366C> T null T I 669 669 missense 0.652 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375383176 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99130371G> A null V M 671 671 missense 0.058 benign 0.48 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1332660785 15q26.3 15 99130379G> T null R S 673 673 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781848163 15q26.3 15 99130387T> C null L P 676 676 missense 0.978 probably damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485595 15q26.3 15 99130390C> T null P L 677 677 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782476697 15q26.3 15 99130389C> T null P S 677 677 missense 0.775 possibly damaging 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782592910 15q26.3 15 99130402A> G null K R 681 681 missense 0.041 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567283322 15q26.3 15 99130411C> T null T I 684 684 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485599 15q26.3 15 99130416A> G null I V 686 686 missense 0.854 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,TOPMed,gnomAD rs369940568 15q26.3 15 99130422G> A null V M 688 688 missense 0.596 possibly damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782678602 15q26.3 15 99130425G> A null E K 689 689 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373129395 15q26.3 15 99130431A> G null K E 691 691 missense 0.782 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,TOPMed,gnomAD rs369328643 15q26.3 15 99130443G> C null D H 695 695 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485606 15q26.3 15 99130444A> T null D V 695 695 missense 0.251 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782354734 15q26.3 15 99130446G> A null V I 696 696 missense 0.028 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs928913309 15q26.3 15 99130450A> G null D G 697 697 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1327347318 15q26.3 15 99130449G> A null D N 697 697 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485607 15q26.3 15 99130456C> A null S Y 699 699 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782199339 15q26.3 15 99130460T> G null D E 700 700 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782199339 15q26.3 15 99130460T> A null D E 700 700 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485608 15q26.3 15 99130458G> C null D H 700 700 missense 0.964 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485608 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99130458G> A null D N 700 700 missense 0.112 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1475972306 15q26.3 15 99130468G> T null G V 703 703 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782143011 15q26.3 15 99130479C> T null L F 707 707 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782143011 15q26.3 15 99130479C> G null L V 707 707 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485612 15q26.3 15 99130484A> T null L F 708 708 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs185740384 15q26.3 15 99130487C> G null S R 709 709 5.99E-4 missense 0.331 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782099454 15q26.3 15 99130488A> G null K E 710 710 missense 0.233 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782099454 15q26.3 15 99130488A> C null K Q 710 710 missense 0.233 benign 0.56 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781814000 15q26.3 15 99130494A> G null I V 712 712 missense 0.0 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782059143 15q26.3 15 99130501A> T null E V 714 714 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs988468702 15q26.3 15 99130525C> T null A V 722 722 missense 0.831 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782532188 15q26.3 15 99130529G> C null E D 723 723 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs781892883 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99130527G> A null E K 723 723 missense 0.99 probably damaging 0.41 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782630091 15q26.3 15 99130534T> C null M T 725 725 missense 0.642 possibly damaging 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485620 15q26.3 15 99130533A> G null M V 725 725 missense 0.026 benign 0.45 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782444428 15q26.3 15 99130537T> C null I T 726 726 missense 0.477 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373395816 15q26.3 15 99130536A> G null I V 726 726 missense 0.108 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485624 15q26.3 15 99130546T> C null I T 729 729 missense 0.599 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782567463 15q26.3 15 99130545A> G null I V 729 729 missense 0.019 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485625 15q26.3 15 99130549T> C null I T 730 730 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs557354487 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99130557G> A null G S 733 733 2.0E-4 missense 0.666 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs782644801 15q26.3 15 99130558G> T null G V 733 733 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs569610114 15q26.3 15 99130561T> A null L Q 734 734 5.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC rs781954970 15q26.3 15 99130570G> C null R T 737 737 missense 0.894 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485630 15q26.3 15 99130575G> A null G R 739 739 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485630 15q26.3 15 99130575G> C null G R 739 739 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782318807 15q26.3 15 99130579G> A null R K 740 740 missense 0.065 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782035534 15q26.3 15 99130587G> A null V I 743 743 missense 0.767 possibly damaging 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782783847 15q26.3 15 99130590G> A null V I 744 744 missense 0.416 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782783847 15q26.3 15 99130590G> C null V L 744 744 missense 0.418 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1252482405 15q26.3 15 99130594A> T null N I 745 745 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1252482405 15q26.3 15 99130594A> G null N S 745 745 missense 0.247 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142594053 15q26.3 15 99130596G> A null V M 746 746 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114631265 15q26.3 15 99130599G> A null E K 747 747 0.01737 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs746324622 15q26.3 15 99130604C> G null I M 748 748 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1348282171 15q26.3 15 99130603T> C null I T 748 748 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485634 15q26.3 15 99130606T> G null V G 749 749 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs553104521 15q26.3 15 99130605G> A null V M 749 749 2.0E-4 missense 0.527 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485640 15q26.3 15 99130609A> G null E G 750 750 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782612915 15q26.3 15 99130608G> A null E K 750 750 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1443729436 15q26.3 15 99130613G> T null E D 751 751 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1279647149 15q26.3 15 99130611G> A null E K 751 751 missense 0.767 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs574527080 15q26.3 15 99130614C> A null P T 752 752 3.99E-4 missense 0.99 probably damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782298489 15q26.3 15 99130617G> C null V L 753 753 missense 0.047 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782298489 15q26.3 15 99130617G> A null V M 753 753 missense 0.039 benign 0.86 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485645 15q26.3 15 99130626G> A null V I 756 756 missense 0.03 benign 0.2 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1175878295 15q26.3 15 99130630G> C null S T 757 757 missense 0.149 benign 0.79 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370653619 15q26.3 15 99130632G> A null G R 758 758 missense 0.781 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs897158517 15q26.3 15 99130639A> G null K R 760 760 missense 0.007 benign 0.72 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3743247 pubmed:11454237 15q26.3 15 99130642C> T null P L 761 761 0.02416 missense 0.015 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3743247 15q26.3 15 99130642C> A null P Q 761 761 0.02416 missense 0.168 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3743247 15q26.3 15 99130642C> G null P R 761 761 0.02416 missense 0.222 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782017207 15q26.3 15 99130650T> C null F L 764 764 missense 0.017 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371262435 15q26.3 15 99130656G> A null V I 766 766 missense 0.009 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371262435 15q26.3 15 99130656G> C null V L 766 766 missense 0.047 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567283658 15q26.3 15 99130659C> T null P S 767 767 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781795403 15q26.3 15 99130669T> A null V E 770 770 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1259390195 15q26.3 15 99130671G> A null E K 771 771 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1208391591 15q26.3 15 99130676G> C null E D 772 772 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs144937142 15q26.3 15 99130680G> A null E K 774 774 3.99E-4 missense 0.284 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374839316 15q26.3 15 99130683G> C null D H 775 775 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374839316 15q26.3 15 99130683G> A null D N 775 775 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782622717 15q26.3 15 99130686G> T null V L 776 776 missense 0.03 benign 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782622717 15q26.3 15 99130686G> A null V M 776 776 missense 0.202 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782194063 15q26.3 15 99130690C> T null S L 777 777 missense 0.701 possibly damaging 0.27 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485652 15q26.3 15 99130689T> C null S P 777 777 missense 0.16 benign 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs374772861 15q26.3 15 99130705G> A null G E 782 782 missense 0.299 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs563752665 15q26.3 15 99130709G> T null L F 783 783 2.0E-4 missense 0.037 benign 0.45 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs182777861 15q26.3 15 99130711T> C null V A 784 784 0.003195 missense 0.075 benign 0.24 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a dbSNP rs555492683 15q26.3 15 99130713_99130715de l null K null 785 785 inframe deletion 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485655 15q26.3 15 99130713A> G null K E 785 785 missense 0.0 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781977193 15q26.3 15 99130719G> C null E Q 787 787 missense 0.328 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782094821 15q26.3 15 99130726G> C null G A 789 789 missense 0.516 possibly damaging 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782094821 15q26.3 15 99130726G> A null G D 789 789 missense 0.114 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485659 15q26.3 15 99130737A> G null S G 793 793 missense 0.0 benign 0.24 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376304252 15q26.3 15 99130738G> T null S I 793 793 missense 0.009 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs546354423 15q26.3 15 99130740G> C null D H 794 794 3.99E-4 missense 0.031 benign 0.42 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs546354423 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99130740G> A null D N 794 794 3.99E-4 missense 0.03 benign 0.62 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373251539 15q26.3 15 99130751C> G null F L 797 797 missense 0.485 possibly damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782514131 15q26.3 15 99130749T> G null F V 797 797 missense 0.073 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,gnomAD rs375215719 15q26.3 15 99130762A> G null Q R 801 801 missense 0.017 benign 0.42 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes rs568181830 15q26.3 15 99130765A> G null H R 802 802 2.0E-4 missense 0.001 benign 0.35 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782473807 15q26.3 15 99130767C> T null R * 803 803 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1444884906 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99130768G> A null R Q 803 803 missense 0.0 benign 0.6 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs529454589 15q26.3 15 99130771G> A null R K 804 804 2.0E-4 missense 0.005 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782294824 15q26.3 15 99130773A> G null T A 805 805 missense 0.026 benign 0.21 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782534792 15q26.3 15 99130781G> T null Q H 807 807 missense 0.067 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1213710704 15q26.3 15 99130788G> A null E K 810 810 missense 0.034 benign 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782234923 15q26.3 15 99130792A> G null N S 811 811 missense 0.02 benign 0.98 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs940468309 15q26.3 15 99130795C> G null T R 812 812 missense 0.005 benign 0.26 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed rs781949272 15q26.3 15 99130800C> A null H N 814 814 missense 0.802 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,TOPMed rs569526221 15q26.3 15 99130802C> G null H Q 814 814 2.0E-4 missense 0.211 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed rs781949272 15q26.3 15 99130800C> T null H Y 814 814 missense 0.892 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373216120 15q26.3 15 99130803G> A null V M 815 815 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs540148240 15q26.3 15 99130806G> T null E * 816 816 2.0E-4 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs540148240 15q26.3 15 99130806G> A null E K 816 816 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs899051023 15q26.3 15 99130815A> T null T S 819 819 missense 0.251 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485682 15q26.3 15 99130828A> G null D G 823 823 missense 0.403 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782157124 15q26.3 15 99130837G> A null G D 826 826 missense 0.206 benign 0.68 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a NCI-TCGA,TOPMed rs369788122 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99130839G> A null E K 827 827 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs782249523 15q26.3 15 99130843A> C null Q P 828 828 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs782249523 15q26.3 15 99130843A> G null Q R 828 828 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1162674590 15q26.3 15 99130845A> T null S C 829 829 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567283833 15q26.3 15 99130846G> A null S N 829 829 missense 0.86 possibly damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs781864847 15q26.3 15 99130849du p null Y * 830 830 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782103989 15q26.3 15 99130854G> C null V L 832 832 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1187979159 15q26.3 15 99130858C> T null S F 833 833 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485692 15q26.3 15 99130857T> C null S P 833 833 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1474228937 15q26.3 15 99130860A> G null T A 834 834 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781785785 15q26.3 15 99130864C> T null P L 835 835 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1241142282 15q26.3 15 99130863C> A null P T 835 835 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1193792978 15q26.3 15 99130868T> G null D E 836 836 missense 0.574 possibly damaging 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782162140 15q26.3 15 99130867A> G null D G 836 836 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567283872 15q26.3 15 99130869G> A null E K 837 837 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567283872 15q26.3 15 99130869G> C null E Q 837 837 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782495064 15q26.3 15 99130879G> A null G E 840 840 missense 0.523 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371126107 15q26.3 15 99130878G> C null G R 840 840 missense 0.98 probably damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371126107 15q26.3 15 99130878G> A null G R 840 840 missense 0.98 probably damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1321597575 15q26.3 15 99130882G> A null G E 841 841 missense 0.106 benign 0.65 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375313399 15q26.3 15 99130886C> G null H Q 842 842 missense 0.054 benign 0.67 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377282437 15q26.3 15 99130884C> T null H Y 842 842 missense 0.844 possibly damaging 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782563872 15q26.3 15 99130887G> C null D H 843 843 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782563872 15q26.3 15 99130887G> A null D N 843 843 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,TOPMed rs566895478 15q26.3 15 99130893G> A null D N 845 845 2.0E-4 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,TOPMed rs535925512 15q26.3 15 99130894A> T null D V 845 845 2.0E-4 missense 0.251 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368060875 15q26.3 15 99130898C> G null D E 846 846 missense 0.003 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1035697501 15q26.3 15 99130897A> G null D G 846 846 missense 0.438 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782651475 15q26.3 15 99130900G> A null G D 847 847 missense 0.954 probably damaging 0.55 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1457350945 15q26.3 15 99130899G> A null G S 847 847 missense 0.575 possibly damaging 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370574007 15q26.3 15 99130903C> A null S * 848 848 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370574007 15q26.3 15 99130903C> T null S L 848 848 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1192385674 15q26.3 15 99130912G> A null G E 851 851 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs367707647 15q26.3 15 99130911G> A null G R 851 851 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485706 15q26.3 15 99130918T> A null I N 853 853 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485708 15q26.3 15 99130920C> T null H Y 854 854 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200012774 15q26.3 15 99130925C> G null I M 855 855 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485710 15q26.3 15 99130923A> G null I V 855 855 missense 0.163 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782755580 15q26.3 15 99130926G> T null E * 856 856 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782755580 15q26.3 15 99130926G> A null E K 856 856 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485714 15q26.3 15 99130932G> T null E * 858 858 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs141776398 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99130941A> T null I F 861 861 9.98E-4 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141776398 15q26.3 15 99130941A> G null I V 861 861 9.98E-4 missense 0.263 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485715 15q26.3 15 99130945G> A null R K 862 862 missense 0.065 benign 0.86 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485718 15q26.3 15 99130946G> C null R S 862 862 missense 0.477 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567283993 15q26.3 15 99130947T> C null Y H 863 863 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781786958 15q26.3 15 99130951C> T null S F 864 864 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs368926041 15q26.3 15 99130950T> C null S P 864 864 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567284005 15q26.3 15 99130954G> A null W * 865 865 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782547990 15q26.3 15 99130957A> C null Q P 866 866 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782547990 15q26.3 15 99130957A> G null Q R 866 866 missense 0.517 possibly damaging 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485721 15q26.3 15 99130965A> C null I L 869 869 missense 0.594 possibly damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782506370 15q26.3 15 99130968G> T null V L 870 870 missense 0.179 benign 0.51 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782506370 15q26.3 15 99130968G> A null V M 870 870 missense 0.622 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1299782218 15q26.3 15 99130971C> G null Q E 871 871 missense 0.46 possibly damaging 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782624938 15q26.3 15 99130972A> G null Q R 871 871 missense 0.059 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567284042 15q26.3 15 99130980C> T null R * 874 874 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782221617 15q26.3 15 99130981G> A null R Q 874 874 missense 0.022 benign 0.56 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782330693 15q26.3 15 99130985G> T null R S 875 875 missense 0.978 probably damaging 0.4 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485727 15q26.3 15 99130987G> C null R T 876 876 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1392811067 15q26.3 15 99130989A> G null T A 877 877 missense 0.007 benign 0.41 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1419124035 15q26.3 15 99131002G> A null G D 881 881 missense 0.0 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485730 15q26.3 15 99131001G> A null G S 881 881 missense 0.0 benign 0.57 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372085912 15q26.3 15 99131005C> T null A V 882 882 missense 0.013 benign 0.24 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782379158 15q26.3 15 99131011G> C null G A 884 884 missense 0.233 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs782617072 15q26.3 15 99131013G> A null E K 885 885 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782341979 15q26.3 15 99131020T> C null V A 887 887 missense 0.049 benign 0.53 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782230529 15q26.3 15 99131019G> A null V I 887 887 missense 0.071 benign 0.35 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485733 15q26.3 15 99131022G> T null V L 888 888 missense 0.31 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs202217933 15q26.3 15 99131038T> C null V A 893 893 2.0E-4 missense 0.019 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs972297581 15q26.3 15 99131044C> T null A V 895 895 missense 0.072 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567284127 15q26.3 15 99131047C> T null P L 896 896 missense 0.018 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782820113 15q26.3 15 99131050C> G null S C 897 897 missense 0.94 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782820113 15q26.3 15 99131050C> T null S F 897 897 missense 0.132 benign 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1232676232 15q26.3 15 99131052C> G null L V 898 898 missense 0.05 benign 0.38 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,gnomAD rs368857737 15q26.3 15 99131057G> T null E D 899 899 missense 0.709 possibly damaging 0.27 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485740 15q26.3 15 99131058G> A null G R 900 900 missense 0.132 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,gnomAD rs376913684 15q26.3 15 99131062A> G null D G 901 901 missense 0.005 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192270232 15q26.3 15 99131061G> C null D H 901 901 7.99E-4 missense 0.047 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs192270232 15q26.3 15 99131061G> A null D N 901 901 7.99E-4 missense 0.287 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485743 15q26.3 15 99131064C> A null L M 902 902 missense 0.041 benign 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1044953087 15q26.3 15 99131068G> C null G A 903 903 missense 0.105 benign 0.69 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1044953087 15q26.3 15 99131068G> A null G D 903 903 missense 0.149 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485745 15q26.3 15 99131071C> G null S C 904 904 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485746 15q26.3 15 99131076C> T null H Y 906 906 missense 0.132 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1373283678 15q26.3 15 99131082A> C null K Q 908 908 missense 0.209 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485748 15q26.3 15 99131083A> G null K R 908 908 missense 0.036 benign 0.24 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782655079 15q26.3 15 99131085G> C null E Q 909 909 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs184173869 15q26.3 15 99131089A> C null Q P 910 910 3.99E-4 missense 0.029 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs184173869 15q26.3 15 99131089A> G null Q R 910 910 3.99E-4 missense 0.029 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1453956923 15q26.3 15 99131092C> G null A G 911 911 missense 0.067 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782197710 15q26.3 15 99131101G> A null G D 914 914 missense 0.722 possibly damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs528986487 15q26.3 15 99131100G> A null G S 914 914 2.0E-4 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782308567 15q26.3 15 99131104A> G null E G 915 915 missense 0.905 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs868982301 15q26.3 15 99131113C> T null A V 918 918 missense 0.523 possibly damaging 0.55 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376246829 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99131115G> A null E K 919 919 missense 0.167 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1476372097 15q26.3 15 99131122C> G null T R 921 921 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs138547285 15q26.3 15 99131128T> C null I T 923 923 0.001198 missense 0.169 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782095378 15q26.3 15 99131131A> G null E G 924 924 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,gnomAD rs370301273 15q26.3 15 99131139A> G null I V 927 927 missense 0.918 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781944955 15q26.3 15 99131147A> G null I M 929 929 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485759 15q26.3 15 99131149C> T null P L 930 930 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485761 15q26.3 15 99131152A> C null H P 931 931 missense 0.043 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782056081 15q26.3 15 99131151C> T null H Y 931 931 missense 0.892 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs781863429 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99131154G> A null E K 932 932 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782506906 15q26.3 15 99131162C> G null H Q 934 934 missense 0.331 benign 0.64 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1000864065 15q26.3 15 99131163A> G null T A 935 935 missense 0.105 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781821881 15q26.3 15 99131167C> A null S Y 936 936 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1234961699 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99131171G> A null M I 937 937 missense 0.0 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485769 15q26.3 15 99131169A> G null M V 937 937 missense 0.007 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485775 15q26.3 15 99131172A> G null K E 938 938 missense 0.557 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485776 15q26.3 15 99131173A> C null K T 938 938 missense 0.848 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1029209885 15q26.3 15 99131185C> T null S F 942 942 missense 0.012 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1286674723 15q26.3 15 99131192G> T null E D 944 944 missense 0.977 probably damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375617098 15q26.3 15 99131190G> A null E K 944 944 missense 0.767 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1456247479 15q26.3 15 99131193C> G null P A 945 945 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1388597818 15q26.3 15 99131194C> T null P L 945 945 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1456247479 15q26.3 15 99131193C> T null P S 945 945 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs5030694 15q26.3 15 99131196C> G null R G 946 946 3.99E-4 missense 0.114 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs782799108 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99131197G> A null R Q 946 946 missense 0.897 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs5030694 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:11454237 15q26.3 15 99131196C> T null R W 946 946 3.99E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1187198863 15q26.3 15 99131203A> C null Q P 948 948 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485791 15q26.3 15 99131208G> A null V M 950 950 missense 0.192 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,gnomAD rs374434761 15q26.3 15 99131215T> C null V A 952 952 missense 0.977 probably damaging 0.53 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782242404 15q26.3 15 99131220G> A null G R 954 954 missense 0.978 probably damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782242404 15q26.3 15 99131220G> T null G W 954 954 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485793 15q26.3 15 99131223C> T null Q * 955 955 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782359719 15q26.3 15 99131225G> T null Q H 955 955 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1273838862 15q26.3 15 99131231G> C null E D 957 957 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1464483969 15q26.3 15 99131230A> G null E G 957 957 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782600331 15q26.3 15 99131233A> G null E G 958 958 missense 0.925 probably damaging 0.34 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1215520579 15q26.3 15 99131238C> A null L I 960 960 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368640797 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99131244G> A null E K 962 962 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs781789316 15q26.3 15 99131247C> T null R C 963 963 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782130289 15q26.3 15 99131248G> A null R H 963 963 missense 0.505 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1292956819 15q26.3 15 99131250A> G null M V 964 964 missense 0.015 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs372910281 15q26.3 15 99131254G> T null R M 965 965 missense 0.73 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1555485802 15q26.3 15 99131257A> G null E G 966 966 missense 0.784 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485804 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99131259G> A null E K 967 967 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1555485806 15q26.3 15 99131263T> C null L P 968 968 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs552082607 15q26.3 15 99131268G> C null A P 970 970 2.0E-4 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs552082607 15q26.3 15 99131268G> A null A T 970 970 2.0E-4 missense 0.191 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781789534 15q26.3 15 99131269C> T null A V 970 970 missense 0.238 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782163857 15q26.3 15 99131277A> G null R G 973 973 missense 0.011 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782794052 15q26.3 15 99131278G> A null R K 973 973 missense 0.046 benign 0.67 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782794052 15q26.3 15 99131278G> C null R T 973 973 missense 0.027 benign 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782506299 15q26.3 15 99131282G> C null E D 974 974 missense 0.149 benign 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782612214 15q26.3 15 99131283G> A null G R 975 975 missense 0.249 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485817 15q26.3 15 99131286C> T null Q * 976 976 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782454789 15q26.3 15 99131288G> C null Q H 976 976 missense 0.769 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5030695 15q26.3 15 99131287A> T null Q L 976 976 0.01977 missense 0.013 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5030695 15q26.3 15 99131287A> C null Q P 976 976 0.01977 missense 0.013 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs5030695 pubmed:11454237 15q26.3 15 99131287A> G null Q R 976 976 0.01977 missense 0.013 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485825 15q26.3 15 99131295C> G null P A 979 979 missense 0.17 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782585812 15q26.3 15 99131296C> T null P L 979 979 missense 0.112 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485825 15q26.3 15 99131295C> T null P S 979 979 missense 0.17 benign 0.46 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,gnomAD rs376804524 15q26.3 15 99131298G> A null G R 980 980 missense 0.315 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1449049632 15q26.3 15 99131302G> A null S N 981 981 missense 0.03 benign 0.59 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782225511 15q26.3 15 99131304G> A null V I 982 982 missense 0.015 benign 0.3 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369298488 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99131310G> A null V M 984 984 2.0E-4 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782412672 15q26.3 15 99131319A> G null K E 987 987 missense 0.702 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782015221 15q26.3 15 99131326T> A null V D 989 989 missense 0.826 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1227249011 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99131325G> T null V F 989 989 missense 0.771 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782137542 15q26.3 15 99131330G> C null Q H 990 990 missense 0.041 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782767766 15q26.3 15 99131332G> A null G D 991 991 missense 0.062 benign 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781843663 15q26.3 15 99131347C> T null S F 996 996 missense 0.914 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782085670 15q26.3 15 99131349G> A null V M 997 997 missense 0.285 benign 0.23 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485842 15q26.3 15 99131355C> A null L M 999 999 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1323437721 15q26.3 15 99131356T> C null L P 999 999 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1392431450 15q26.3 15 99131359T> C null V A 1000 1000 missense 0.702 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485844 15q26.3 15 99131361G> A null A T 1001 1001 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782734630 15q26.3 15 99131367G> A null V I 1003 1003 missense 0.919 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781798465 15q26.3 15 99131371A> G null N S 1004 1004 missense 0.233 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375962367 15q26.3 15 99131373G> A null V I 1005 1005 missense 0.027 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781849411 15q26.3 15 99131377C> G null S * 1006 1006 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187807624 15q26.3 15 99131386T> C null V A 1009 1009 5.99E-4 missense 0.785 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782689251 15q26.3 15 99131394G> A null D N 1012 1012 missense 0.11 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs539280580 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99131398G> A null R Q 1013 1013 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369573602 15q26.3 15 99131397C> T null R W 1013 1013 missense 0.663 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1439446967 15q26.3 15 99131404A> G null D G 1015 1015 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs375897773 15q26.3 15 99131412G> T null E * 1018 1018 0.003794 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs370918080 15q26.3 15 99131413A> T null E V 1018 1018 0.003794 missense 0.71 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1198268225 15q26.3 15 99131416T> C null L P 1019 1019 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1198268225 15q26.3 15 99131416T> G null L R 1019 1019 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1282014065 15q26.3 15 99131415C> G null L V 1019 1019 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1041771803 15q26.3 15 99131419G> A null S N 1020 1020 missense 0.331 benign 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781935802 15q26.3 15 99131420C> G null S R 1020 1020 missense 0.92 probably damaging 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782057258 15q26.3 15 99131424G> T null D Y 1022 1022 missense 0.444 benign 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485871 15q26.3 15 99131427G> A null E K 1023 1023 missense 0.967 probably damaging 0.17 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485872 15q26.3 15 99131430G> A null A T 1024 1024 missense 0.444 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782810959 15q26.3 15 99131433A> G null S G 1025 1025 missense 0.0 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485878 15q26.3 15 99131434G> A null S N 1025 1025 missense 0.007 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485883 15q26.3 15 99131439A> T null M L 1027 1027 missense 0.007 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs377004221 15q26.3 15 99131448G> A null A T 1030 1030 missense 0.207 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485890 15q26.3 15 99131456G> T null E D 1032 1032 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370961392 15q26.3 15 99131458C> T null S L 1033 1033 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782697393 15q26.3 15 99131460G> C null V L 1034 1034 missense 0.899 possibly damaging 0.28 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs766391196 15q26.3 15 99131463G> A null V I 1035 1035 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782508026 15q26.3 15 99131466C> G null R G 1036 1036 missense 0.93 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,TOPMed,gnomAD rs368624285 15q26.3 15 99131467G> A null R Q 1036 1036 missense 0.127 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782508026 15q26.3 15 99131466C> T null R W 1036 1036 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782245687 15q26.3 15 99131470A> C null E A 1037 1037 missense 0.516 possibly damaging 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782639826 15q26.3 15 99131469G> A null E K 1037 1037 missense 0.598 possibly damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,TOPMed,gnomAD rs370914226 15q26.3 15 99131474C> G null S R 1038 1038 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs375867337 15q26.3 15 99131475C> A null L M 1039 1039 missense 0.991 probably damaging 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1259239818 15q26.3 15 99131478A> C null S R 1040 1040 missense 0.419 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200334974 15q26.3 15 99131481A> G null R G 1041 1041 0.001797 missense 0.012 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782042737 15q26.3 15 99131487C> T null R C 1043 1043 missense 0.021 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201419358 15q26.3 15 99131488G> A null R H 1043 1043 9.98E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485897 15q26.3 15 99131490A> G null S G 1044 1044 missense 0.007 benign 0.31 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485898 15q26.3 15 99131491G> A null S N 1044 1044 missense 0.077 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485900 15q26.3 15 99131494C> A null P Q 1045 1045 missense 0.034 benign 0.52 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1331933966 15q26.3 15 99131496G> C null A P 1046 1046 missense 0.018 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1331933966 15q26.3 15 99131496G> A null A T 1046 1046 missense 0.012 benign 0.29 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367761964 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99131497C> T null A V 1046 1046 missense 0.007 benign 0.66 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1286275944 15q26.3 15 99131500C> G null P R 1047 1047 missense 0.949 probably damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1356531779 15q26.3 15 99131499C> T null P S 1047 1047 missense 0.329 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1446093740 15q26.3 15 99131508C> T null P S 1050 1050 missense 0.988 probably damaging 0.17 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1446093740 15q26.3 15 99131508C> A null P T 1050 1050 missense 0.984 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782166310 15q26.3 15 99131512A> G null D G 1051 1051 missense 0.024 benign 0.08 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485907 15q26.3 15 99131511G> A null D N 1051 1051 missense 0.093 benign 0.17 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485910 15q26.3 15 99131514G> A null E K 1052 1052 missense 0.003 benign 0.93 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1340030325 15q26.3 15 99131515A> T null E V 1052 1052 missense 0.098 benign 0.28 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs267604399 15q26.3 15 99131517G> A null E K 1053 1053 missense 0.027 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782795125 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 15q26.3 15 99131520G> C null G R 1054 1054 missense 0.007 benign 0.53 tolerated 1 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs781868003 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99131523G> A null G R 1055 1055 missense 0.059 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs782493054 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99131527C> T null A V 1056 1056 missense 0.022 benign 0.58 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485913 15q26.3 15 99131533C> G null A G 1058 1058 missense 0.535 possibly damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs5030697 pubmed:11454237 15q26.3 15 99131536C> T null P L 1059 1059 0.01677 missense 0.112 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5030697 15q26.3 15 99131536C> A null P Q 1059 1059 0.01677 missense 0.384 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5030697 15q26.3 15 99131536C> G null P R 1059 1059 0.01677 missense 0.264 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,gnomAD rs369923463 15q26.3 15 99131538G> A null A T 1060 1060 missense 0.043 benign 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485916 15q26.3 15 99131541G> C null A P 1061 1061 missense 0.027 benign 0.2 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1419769659 15q26.3 15 99131542C> T null A V 1061 1061 missense 0.027 benign 0.29 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781912011 15q26.3 15 99131550C> T null R C 1064 1064 missense 0.886 possibly damaging 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782544789 15q26.3 15 99131551G> A null R H 1064 1064 missense 0.048 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485921 15q26.3 15 99131556A> G null R G 1066 1066 missense 0.363 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1242337082 15q26.3 15 99131559C> T null R C 1067 1067 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5030698 15q26.3 15 99131560G> A null R H 1067 1067 0.02596 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs5030698 pubmed:11454237 15q26.3 15 99131560G> C null R P 1067 1067 0.02596 missense 1.0 probably damaging 0.24 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485922 15q26.3 15 99131564G> A null W * 1068 1068 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1463144792 15q26.3 15 99131562T> C null W R 1068 1068 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1246826356 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99131565G> A null A T 1069 1069 missense 1.0 probably damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1208680843 15q26.3 15 99131566C> T null A V 1069 1069 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782168939 15q26.3 15 99131569C> T null T I 1070 1070 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782130402 15q26.3 15 99131572G> C null R P 1071 1071 missense 0.948 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782130402 15q26.3 15 99131572G> A null R Q 1071 1071 missense 0.055 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,gnomAD rs567669558 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99131571C> T null R W 1071 1071 3.99E-4 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781968712 15q26.3 15 99131574G> T null E * 1072 1072 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781968712 15q26.3 15 99131574G> A null E K 1072 1072 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485927 15q26.3 15 99131582C> A null Y * 1074 1074 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485928 15q26.3 15 99131583A> C null I L 1075 1075 missense 0.003 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs782348073 15q26.3 15 99131587C> T null P L 1076 1076 missense 0.093 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5030699 15q26.3 15 99131590C> A null S * 1077 1077 0.07069 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs5030699 15q26.3 15 99131590C> G null S * 1077 1077 0.07069 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs5030699 pubmed:11454237 15q26.3 15 99131590C> T null S L 1077 1077 0.07069 missense 0.343 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485931 15q26.3 15 99131593G> A null G D 1078 1078 missense 0.093 benign 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782173721 15q26.3 15 99131597G> C null E D 1079 1079 missense 0.046 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs549845660 15q26.3 15 99131595G> A null E K 1079 1079 2.0E-4 missense 0.111 benign 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs115301553 15q26.3 15 99131601G> A null E K 1081 1081 0.01797 missense 0.103 benign 0.23 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1363142601 15q26.3 15 99131604G> A null V I 1082 1082 missense 0.005 benign 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1363142601 15q26.3 15 99131604G> C null V L 1082 1082 missense 0.0 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781880460 15q26.3 15 99131611G> C null G A 1084 1084 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781880460 15q26.3 15 99131611G> A null G D 1084 1084 missense 0.386 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485935 15q26.3 15 99131614G> A null G E 1085 1085 missense 0.003 benign 0.31 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782510030 15q26.3 15 99131613G> A null G R 1085 1085 missense 0.0 benign 0.38 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781802455 15q26.3 15 99131616G> T null A S 1086 1086 missense 0.025 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781802455 15q26.3 15 99131616G> A null A T 1086 1086 missense 0.109 benign 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485936 15q26.3 15 99131617C> T null A V 1086 1086 missense 0.025 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373377438 15q26.3 15 99131620C> G null S C 1087 1087 missense 0.823 possibly damaging 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373377438 15q26.3 15 99131620C> T null S F 1087 1087 missense 0.043 benign 0.59 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1567284885 15q26.3 15 99131623A> T null H L 1088 1088 missense 0.098 benign 0.58 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485939 15q26.3 15 99131622C> T null H Y 1088 1088 missense 0.015 benign 0.94 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs200155964 15q26.3 15 99131629C> T null S L 1090 1090 missense 0.007 benign 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs201116169 15q26.3 15 99131632G> A null G E 1091 1091 missense 0.001 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1050567953 15q26.3 15 99131635A> G null Q R 1092 1092 missense 0.005 benign 0.27 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782229796 15q26.3 15 99131637C> T null R C 1093 1093 missense 0.498 possibly damaging 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1447247496 15q26.3 15 99131638G> A null R H 1093 1093 missense 0.003 benign 0.6 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs532656317 15q26.3 15 99131640A> G null T A 1094 1094 missense 0.007 benign 0.5 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781940498 15q26.3 15 99131641C> T null T I 1094 1094 missense 0.125 benign 0.62 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485944 15q26.3 15 99131644C> T null P L 1095 1095 missense 0.015 benign 0.61 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485946 15q26.3 15 99131646C> T null Q * 1096 1096 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485947 15q26.3 15 99131649G> A null G S 1097 1097 missense 0.775 possibly damaging 0.05 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs557934531 15q26.3 15 99131650G> T null G V 1097 1097 2.0E-4 missense 0.74 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1009159245 15q26.3 15 99131656T> C null V A 1099 1099 missense 0.805 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201725378 15q26.3 15 99131659C> T null S L 1100 1100 2.0E-4 missense 0.069 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1248959241 15q26.3 15 99131662C> T null A V 1101 1101 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1451370171 15q26.3 15 99131670G> A null E K 1104 1104 missense 0.519 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485949 15q26.3 15 99131671A> T null E V 1104 1104 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781972156 15q26.3 15 99131676A> G null S G 1106 1106 missense 0.602 possibly damaging 0.27 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1274092656 15q26.3 15 99131683C> T null P L 1108 1108 missense 0.991 probably damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs897500389 15q26.3 15 99131686C> T null T I 1109 1109 missense 0.622 possibly damaging 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485958 15q26.3 15 99131685A> T null T S 1109 1109 missense 0.013 benign 0.42 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782061103 15q26.3 15 99131694G> A null A T 1112 1112 missense 0.343 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200087412 15q26.3 15 99131699G> C null Q H 1113 1113 2.0E-4 missense 0.16 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781899369 15q26.3 15 99131698A> C null Q P 1113 1113 missense 0.734 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781899369 15q26.3 15 99131698A> G null Q R 1113 1113 missense 0.072 benign 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782789769 15q26.3 15 99131704A> G null Q R 1115 1115 missense 0.015 benign 0.15 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485961 15q26.3 15 99131709C> A null L M 1117 1117 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1235111158 15q26.3 15 99131712G> A null E K 1118 1118 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485962 15q26.3 15 99131715G> A null D N 1119 1119 missense 0.22 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1291697556 15q26.3 15 99131723C> G null S R 1121 1121 missense 0.16 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782488180 15q26.3 15 99131727G> T null A S 1123 1123 missense 0.003 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1435616270 15q26.3 15 99131734G> A null R K 1125 1125 missense 0.036 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs374811600 15q26.3 15 99131738C> A null H Q 1126 1126 missense 0.804 possibly damaging 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782443405 15q26.3 15 99131742A> G null K E 1128 1128 missense 0.021 benign 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs9920074 15q26.3 15 99131748G> A null G S 1130 1130 0.007788 missense 0.175 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485965 15q26.3 15 99131751C> T null P S 1131 1131 missense 0.652 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs782390681 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99131772G> C null E Q 1138 1138 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200970400 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 15q26.3 15 99131775C> T null R * 1139 1139 2.0E-4 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,NCI-TCGA,TOPMed,gnomAD rs556286004 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99131776G> A null R Q 1139 1139 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485967 15q26.3 15 99131780G> A null M I 1140 1140 missense 0.015 benign 0.45 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1233832426 15q26.3 15 99131786T> G null Y * 1142 1142 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485969 15q26.3 15 99131784T> C null Y H 1142 1142 missense 0.001 benign 0.39 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs960495077 15q26.3 15 99131788A> C null E A 1143 1143 missense 0.287 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485970 15q26.3 15 99131787G> A null E K 1143 1143 missense 0.089 benign 0.28 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781914083 15q26.3 15 99131791G> T null G V 1144 1144 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782803328 15q26.3 15 99131794C> T null P L 1145 1145 missense 0.085 benign 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782109168 15q26.3 15 99131796A> C null T P 1146 1146 missense 0.099 benign 0.21 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555485975 15q26.3 15 99131805G> A null V M 1149 1149 missense 0.379 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486195 15q26.3 15 99132751T> A null M K 1152 1152 missense 0.251 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1413179171 15q26.3 15 99132750A> G null M V 1152 1152 missense 0.001 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782049791 15q26.3 15 99132757T> C null V A 1154 1154 missense 0.35 benign 0.43 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs201159575 15q26.3 15 99132760G> A null S N 1155 1155 missense 0.089 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376187806 15q26.3 15 99132763A> G null N S 1156 1156 missense 0.009 benign 0.49 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs376187806 15q26.3 15 99132763A> C null N T 1156 1156 missense 0.145 benign 0.26 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1235763140 15q26.3 15 99132766T> C null V A 1157 1157 missense 0.0 benign 0.95 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35238587 15q26.3 15 99132765G> A null V I 1157 1157 0.003195 missense 0.003 benign 0.5 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781868164 15q26.3 15 99132768G> A null E K 1158 1158 missense 0.013 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374655731 15q26.3 15 99132772C> T null A V 1159 1159 3.99E-4 missense 0.026 benign 0.21 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs78137704 15q26.3 15 99132776C> G null I M 1160 1160 3.99E-4 missense 0.194 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1312958333 15q26.3 15 99132775T> C null I T 1160 1160 missense 0.001 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1316007747 15q26.3 15 99132774A> G null I V 1160 1160 missense 0.001 benign 0.9 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782531815 15q26.3 15 99132777C> T null R C 1161 1161 missense 0.493 possibly damaging 0.19 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113666904 15q26.3 15 99132778G> A null R H 1161 1161 2.0E-4 missense 0.003 benign 0.55 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782242576 15q26.3 15 99132783C> G null R G 1163 1163 missense 0.007 benign 0.39 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370900480 15q26.3 15 99132784G> A null R Q 1163 1163 missense 0.219 benign 0.5 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782242576 15q26.3 15 99132783C> T null R W 1163 1163 missense 0.0 benign 0.18 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs371723962 15q26.3 15 99132786A> G null T A 1164 1164 missense 0.208 benign 0.43 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs570708317 15q26.3 15 99132787C> T null T I 1164 1164 missense 0.479 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC rs782310948 15q26.3 15 99132789C> G null Q E 1165 1165 missense 0.062 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1452056028 15q26.3 15 99132790A> T null Q L 1165 1165 missense 0.296 benign 0.16 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486209 15q26.3 15 99132793A> G null E G 1166 1166 missense 0.637 possibly damaging 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs373656981 15q26.3 15 99132796C> T null A V 1167 1167 missense 0.359 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486211 15q26.3 15 99132799G> C null G A 1168 1168 missense 0.009 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1425709184 15q26.3 15 99132802C> T null A V 1169 1169 missense 0.076 benign 0.46 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781980857 15q26.3 15 99132807G> T null G C 1171 1171 missense 0.886 possibly damaging 0.09 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs782121635 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99132808G> A null G D 1171 1171 missense 0.012 benign 0.32 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781980857 15q26.3 15 99132807G> A null G S 1171 1171 missense 0.021 benign 0.59 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs139332546 15q26.3 15 99132814C> G null S C 1173 1173 0.001597 missense 0.946 probably damaging 0.05 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782736663 15q26.3 15 99132813T> A null S T 1173 1173 missense 0.109 benign 0.76 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs942487719 15q26.3 15 99132818C> A null D E 1174 1174 missense 0.047 benign 0.38 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782075200 15q26.3 15 99132816G> C null D H 1174 1174 missense 0.107 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782802487 15q26.3 15 99132819C> T null R C 1175 1175 missense 0.703 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782802487 15q26.3 15 99132819C> G null R G 1175 1175 missense 0.001 benign 0.69 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs530141940 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99132820G> A null R H 1175 1175 3.99E-4 missense 0.003 benign 0.35 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782802487 15q26.3 15 99132819C> A null R S 1175 1175 missense 0.012 benign 0.61 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782517239 15q26.3 15 99132823G> A null G D 1176 1176 missense 0.182 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs369253322 15q26.3 15 99132826C> T null S F 1177 1177 missense 0.22 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486216 15q26.3 15 99132829G> A null W * 1178 1178 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486217 15q26.3 15 99132830G> T null W C 1178 1178 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782569467 15q26.3 15 99132831A> G null R G 1179 1179 missense 0.019 benign 0.06 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782199393 15q26.3 15 99132835A> G null D G 1180 1180 missense 0.009 benign 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,TOPMed,gnomAD rs782678168 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q26.3 15 99132837G> A null A T 1181 1181 missense 0.011 benign 0.36 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372660853 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99132838C> T null A V 1181 1181 3.99E-4 missense 0.011 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486226 15q26.3 15 99132842C> G null D E 1182 1182 missense 0.043 benign 0.33 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486227 15q26.3 15 99132843A> G null S G 1183 1183 missense 0.046 benign 0.24 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1363941555 15q26.3 15 99132851T> G null N K 1185 1185 missense 0.001 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375376275 15q26.3 15 99132850A> G null N S 1185 1185 2.0E-4 missense 0.009 benign 0.53 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1163054279 15q26.3 15 99132853A> G null D G 1186 1186 missense 0.242 benign 0.14 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs550081681 15q26.3 15 99132857G> C null Q H 1187 1187 7.99E-4 missense 0.548 possibly damaging 0.59 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1392049598 15q26.3 15 99132856A> G null Q R 1187 1187 missense 0.003 benign 0.65 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782023968 15q26.3 15 99132859C> G null A G 1188 1188 missense 0.05 benign 0.25 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782328262 15q26.3 15 99132858G> A null A T 1188 1188 missense 0.085 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,gnomAD rs369983754 15q26.3 15 99132861G> T null V F 1189 1189 missense 0.446 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1192701329 15q26.3 15 99132864G> C null G R 1190 1190 missense 0.765 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782767692 15q26.3 15 99132868T> A null V E 1191 1191 missense 0.174 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782767692 15q26.3 15 99132868T> G null V G 1191 1191 missense 0.003 benign 0.2 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782171640 15q26.3 15 99132867G> A null V M 1191 1191 missense 0.031 benign 0.17 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782005719 15q26.3 15 99132877A> C null K T 1194 1194 missense 0.007 benign 0.13 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782080144 15q26.3 15 99132879G> T null A S 1195 1195 missense 0.037 benign 0.27 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782080144 15q26.3 15 99132879G> A null A T 1195 1195 missense 0.037 benign 0.1 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,TOPMed,gnomAD rs373105358 15q26.3 15 99132883C> G null S C 1196 1196 missense 0.9 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,TOPMed,gnomAD rs373105358 15q26.3 15 99132883C> T null S F 1196 1196 missense 0.705 possibly damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781789494 15q26.3 15 99132882T> C null S P 1196 1196 missense 0.014 benign 0.04 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1343714820 15q26.3 15 99132885G> T null A S 1197 1197 missense 0.325 benign 0.22 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144209117 15q26.3 15 99132895G> C null G A 1200 1200 0.002196 missense 0.014 benign 0.45 tolerated - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144209117 15q26.3 15 99132895G> A null G E 1200 1200 0.002196 missense 0.057 benign 0.69 tolerated - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,gnomAD rs571607905 15q26.3 15 99132894G> A null G R 1200 1200 2.0E-4 missense 0.014 benign 0.57 tolerated - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144209117 15q26.3 15 99132895G> T null G V 1200 1200 0.002196 missense 0.396 benign 0.14 tolerated - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1326348358 15q26.3 15 99132898A> G null D G 1201 1201 missense 0.0 benign 0.26 tolerated - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1302496849 15q26.3 15 99132904C> G null A G 1203 1203 missense 0.503 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs369093149 15q26.3 15 99132912G> C null E Q 1206 1206 missense 0.847 possibly damaging 0.07 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1302803883 15q26.3 15 99132915C> G null Q E 1207 1207 missense 0.001 benign 0.73 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1302803883 15q26.3 15 99132915C> A null Q K 1207 1207 missense 0.001 benign 1.0 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1430599747 15q26.3 15 99132916A> C null Q P 1207 1207 missense 0.003 benign 0.39 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1166216595 15q26.3 15 99132925A> G null E G 1210 1210 missense 0.401 benign 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs782472976 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99132927C> T null Q * 1211 1211 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782600878 15q26.3 15 99132931C> T null A V 1212 1212 missense 0.696 possibly damaging 0.03 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486246 15q26.3 15 99132934T> C null M T 1213 1213 missense 0.001 benign 0.55 tolerated - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1461479467 15q26.3 15 99132938T> A null F L 1214 1214 missense 0.109 benign 0.02 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486247 15q26.3 15 99132937T> A null F Y 1214 1214 missense 0.957 probably damaging 0.04 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1378100563 15q26.3 15 99132941T> G null D E 1215 1215 missense 0.227 benign 0.23 tolerated - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a Ensembl rs1016265974 15q26.3 15 99132940A> G null D G 1215 1215 missense 0.847 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486252 15q26.3 15 99132947G> C null K N 1217 1217 missense 0.138 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs895329164 15q26.3 15 99132948G> A null V M 1218 1218 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782281777 15q26.3 15 99132951C> T null Q * 1219 1219 stop gained 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782425146 15q26.3 15 99132953G> C null Q H 1219 1219 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782641114 15q26.3 15 99132965G> T null M I 1223 1223 missense 0.131 benign 0.02 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,gnomAD rs376902777 15q26.3 15 99132972C> G null Q E 1226 1226 missense 0.822 possibly damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486255 15q26.3 15 99132975A> G null R G 1227 1227 missense 0.232 benign 0.12 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782051393 15q26.3 15 99132979C> T null S L 1228 1228 missense 0.93 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs781966699 15q26.3 15 99132978T> C null S P 1228 1228 missense 0.13 benign 0.11 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs370166109 15q26.3 15 99132981G> A null V M 1229 1229 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs782017089 15q26.3 15 99132996A> G null K E 1234 1234 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1225839268 15q26.3 15 99133000A> C null K T 1235 1235 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782156525 15q26.3 15 99133005G> T null A S 1237 1237 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782156525 15q26.3 15 99133005G> A null A T 1237 1237 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486263 15q26.3 15 99133008C> T null L F 1238 1238 missense 0.387 benign 0.01 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,gnomAD rs781867682 15q26.3 15 99133015A> G null Y C 1240 1240 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,TOPMed,gnomAD rs782756520 15q26.3 15 99133014T> C null Y H 1240 1240 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373139614 15q26.3 15 99133018T> C null L P 1241 1241 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,ExAC,TOPMed,gnomAD rs373139614 15q26.3 15 99133018T> G null L R 1241 1241 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1402938485 15q26.3 15 99133023A> G null N D 1243 1243 missense 0.006 benign 0.56 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ExAC,NCI-TCGA,gnomAD rs782738335 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 15q26.3 15 99133024A> G null N S 1243 1243 missense 0.006 benign 0.96 tolerated 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486272 15q26.3 15 99133027A> G null E G 1244 1244 missense 0.79 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486273 15q26.3 15 99133032G> A null E K 1246 1246 missense 0.88 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486275 15q26.3 15 99133039A> G null N S 1248 1248 missense 0.007 benign 0.83 tolerated - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486277 15q26.3 15 99133042A> C null D A 1249 1249 missense 0.457 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed rs1428350033 15q26.3 15 99133043T> A null D E 1249 1249 missense 0.024 benign 0.82 tolerated - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs1555486277 15q26.3 15 99133042A> G null D G 1249 1249 missense 0.024 benign 0.01 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a TOPMed,gnomAD rs1159617766 15q26.3 15 99133045G> A null G E 1250 1250 missense 0.46 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a ESP,TOPMed rs377722770 15q26.3 15 99133048A> G null H R 1251 1251 missense 0.023 benign 0.12 tolerated - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a gnomAD rs782654143 15q26.3 15 99133047C> T null H Y 1251 1251 missense 0.744 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B1 SYNM Desmuslin, isoform CRA_a 1000Genomes,ExAC,TOPMed,gnomAD rs547080068 15q26.3 15 99133058A> C null * Y 1254 1254 2.0E-4 stop lost 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1452469389 11p12 11 43398035G> C null G A 2 2 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1452469389 11p12 11 43398035G> A null G E 2 2 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139431536 11p12 11 43398041A> G null E G 4 4 3.99E-4 missense 0.757 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) Ensembl rs1565144940 11p12 11 43398046G> A null A T 6 6 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs776082923 11p12 11 43398049A> C null I L 7 7 missense 0.001 benign 0.63 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed,gnomAD rs1261125876 11p12 11 43398051A> G null I M 7 7 missense 0.015 benign 0.17 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs776082923 11p12 11 43398049A> G null I V 7 7 missense 0.001 benign 0.85 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1332888772 11p12 11 43398055A> G null R G 9 9 missense 0.925 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed,gnomAD rs1380368884 11p12 11 43398056G> A null R K 9 9 missense 0.159 benign 0.04 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs769379960 11p12 11 43398061C> G null H D 11 11 missense 0.71 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1349150678 11p12 11 43398067G> C null V L 13 13 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) 1000Genomes rs202107663 11p12 11 43398086T> C null L P 19 19 2.0E-4 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ESP,TOPMed rs144941992 11p12 11 43398103G> T null A S 25 25 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1011913342 11p12 11 43398110A> G null H R 27 27 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) Ensembl rs55701432 11p12 11 43398113G> T null R I 28 28 missense 0.743 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1451451209 11p12 11 43399889T> C null S P 29 29 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs549387446 11p12 11 43399898C> G null R G 32 32 3.99E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs546582250 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p12 11 43399899G> A null R Q 32 32 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) Ensembl rs1565145821 11p12 11 43399901A> T null T S 33 33 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) Ensembl rs1453697524 11p12 11 43399908A> G null N S 35 35 missense 0.089 benign 0.18 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1016634639 11p12 11 43399907A> T null N Y 35 35 missense 0.894 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed,gnomAD rs1251163832 11p12 11 43399912G> T null E D 36 36 missense 0.999 probably damaging 0.2 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs748950659 11p12 11 43399920A> T null E V 39 39 missense 0.982 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1175382566 11p12 11 43399923A> G null Y C 40 40 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs770652441 11p12 11 43399940C> T null H Y 46 46 missense 0.92 probably damaging 0.34 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs774154526 11p12 11 43399955C> G null Q E 51 51 missense 0.941 probably damaging 0.02 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs774154526 11p12 11 43399955C> A null Q K 51 51 missense 0.96 probably damaging 0.03 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1430292999 11p12 11 43399974A> G null H R 57 57 missense 0.438 benign 0.09 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs772072242 11p12 11 43399973C> T null H Y 57 57 missense 0.005 benign 0.36 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1460260323 11p11.2 11 43400004G> C null R T 67 67 missense 0.273 benign 0.03 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs762047448 11p11.2 11 43400010T> C null I T 69 69 missense 0.946 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) Ensembl rs1565145919 11p11.2 11 43400012A> T null I F 70 70 missense 0.963 probably damaging 0.12 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,NCI-TCGA,gnomAD rs750635072 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 11p11.2 11 43400028T> C null M T 75 75 missense 0.882 possibly damaging 0.13 tolerated - low confidence 1 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1207172006 11p11.2 11 43400033A> C null K Q 77 77 missense 0.977 probably damaging 0.07 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1215740037 11p11.2 11 43400035_43400036insAGATAAA T null E R 78 78 stop gained 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC rs763198296 11p11.2 11 43400044A> T null Q H 80 80 missense 0.975 probably damaging 0.02 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1343080967 11p11.2 11 43400043A> C null Q P 80 80 missense 0.941 probably damaging 0.04 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) 1000Genomes,ExAC,gnomAD rs199536755 11p11.2 11 43401446G> A null G E 82 82 2.0E-4 missense 0.998 probably damaging 0.12 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs766660992 11p11.2 11 43400048G> A null G R 82 82 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1336210831 11p11.2 11 43401460T> C null C R 87 87 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs753228160 11p11.2 11 43401464G> C null R P 88 88 missense 0.021 benign 0.08 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs753228160 11p11.2 11 43401464G> A null R Q 88 88 missense 0.021 benign 0.16 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,NCI-TCGA,gnomAD rs756572599 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11p11.2 11 43401472A> G null N D 91 91 missense 0.098 benign 0.52 tolerated - low confidence 1 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs753330249 11p11.2 11 43401482A> G null H R 94 94 missense 0.007 benign 0.44 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) Ensembl rs1034137001 11p11.2 11 43401481C> T null H Y 94 94 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ESP rs373226825 11p11.2 11 43401491A> G null H R 97 97 missense 0.596 possibly damaging 0.13 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs905758482 11p11.2 11 43401497A> G null Q R 99 99 missense 0.199 benign 0.84 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1343490760 11p11.2 11 43401501G> A null W * 100 100 stop gained 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs756704607 11p11.2 11 43401499T> G null W G 100 100 missense 0.236 benign 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs778690457 11p11.2 11 43401503A> C null D A 101 101 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1260269652 11p11.2 11 43401502G> C null D H 101 101 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143080094 11p11.2 11 43401514C> T null R C 105 105 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143080094 11p11.2 11 43401514C> A null R S 105 105 missense 0.978 probably damaging 0.02 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1407274441 11p11.2 11 43401518A> G null Y C 106 106 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1164494803 11p11.2 11 43401517T> C null Y H 106 106 missense 0.645 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs958688762 11p11.2 11 43401523C> T null R C 108 108 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,NCI-TCGA,gnomAD rs758314443 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p11.2 11 43401524G> A null R H 108 108 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1374984666 11p11.2 11 43401533T> C null I T 111 111 missense 0.287 benign 0.01 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1282103752 11p11.2 11 43401532A> G null I V 111 111 missense 0.012 benign 0.12 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs746949249 11p11.2 11 43401544G> C null V L 115 115 missense 0.477 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1205530533 11p11.2 11 43401551A> G null Y C 117 117 missense 0.917 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs749455307 11p11.2 11 43401553G> A null V I 118 118 missense 0.065 benign 0.13 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1414908124 11p11.2 11 43401563T> C null F S 121 121 missense 0.0 benign 0.5 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1197886454 11p11.2 11 43401567C> G null F L 122 122 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) Ensembl rs1021719926 11p11.2 11 43401566T> C null F S 122 122 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs770889286 11p11.2 11 43401568T> G null L V 123 123 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,TOPMed,gnomAD rs774608546 11p11.2 11 43401575A> G null Q R 125 125 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1267527109 11p11.2 11 43401578C> T null S F 126 126 missense 0.012 benign 0.13 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1176827188 11p11.2 11 43401584C> T null S F 128 128 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,TOPMed,gnomAD rs759707578 11p11.2 11 43401588T> A null Y * 129 129 stop gained 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374876852 11p11.2 11 43401592C> T null R C 131 131 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369271511 11p11.2 11 43401593G> A null R H 131 131 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,TOPMed,gnomAD rs761096260 11p11.2 11 43401596T> A null L * 132 132 stop gained 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,TOPMed,gnomAD rs761096260 11p11.2 11 43401596T> G null L W 132 132 missense 0.268 benign 0.01 deleterious - low confidence 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) TOPMed rs1221582214 11p11.2 11 43401598C> A null L I 133 133 missense 0.003 benign 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1468575785 11p11.2 11 43401599T> C null L P 133 133 missense 0.074 benign 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) ExAC,gnomAD rs754295521 11p11.2 11 43401608A> G null D G 136 136 missense 0.0 unknown 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115591648 11p11.2 11 43401607G> A null D N 136 136 0.002596 missense 0.0 unknown 0 A0A075B7B2 TTC17 Tetratricopeptide repeat protein 17 (Fragment) gnomAD rs1442572883 11p11.2 11 43401615A> T null L F 138 138 missense 0.0 unknown 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1476021059 3q22.1 3 131080425A> G null K R 2 2 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1165178203 3q22.1 3 131080427G> T null V L 3 3 missense 0.681 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1418229661 3q22.1 3 131080433A> C null K Q 5 5 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) Ensembl rs1560300733 3q22.1 3 131080442T> C null S P 8 8 missense 0.007 benign 0.25 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs774256621 3q22.1 3 131080451G> C null E Q 11 11 missense 0.02 benign 0.2 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs992868161 3q22.1 3 131080463A> G null N D 15 15 missense 0.012 benign 0.51 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1358305805 3q22.1 3 131080472G> A null V I 18 18 missense 0.007 benign 0.16 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1358305805 3q22.1 3 131080472G> C null V L 18 18 missense 0.005 benign 0.37 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs767301029 3q22.1 3 131080481A> G null N D 21 21 missense 0.062 benign 0.48 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs750041699 3q22.1 3 131080482A> G null N S 21 21 missense 0.003 benign 0.61 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,TOPMed rs370993635 3q22.1 3 131080491C> T null A V 24 24 missense 0.097 benign 0.29 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs755588563 3q22.1 3 131080495A> C null Q H 25 25 missense 0.06 benign 0.05 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs765912607 3q22.1 3 131080497T> G null L R 26 26 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,TOPMed,gnomAD rs145554448 3q22.1 3 131080512A> G null D G 31 31 missense 0.007 benign 0.09 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs778148003 3q22.1 3 131080515A> C null H P 32 32 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1227738471 3q22.1 3 131080516C> A null H Q 32 32 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1046955890 3q22.1 3 131080518C> A null P Q 33 33 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1373390565 3q22.1 3 131080521C> A null A D 34 34 missense 0.169 benign 0.08 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1277992710 3q22.1 3 131080524T> C null I T 35 35 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) Ensembl rs958254413 3q22.1 3 131080523A> G null I V 35 35 missense 0.574 possibly damaging 0.04 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) Ensembl rs766404621 3q22.1 3 131080530A> G null K R 37 37 missense 0.007 benign 0.17 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) Ensembl rs774654019 3q22.1 3 131080541A> G null S G 41 41 missense 0.831 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1311255204 3q22.1 3 131080547G> T null V L 43 43 missense 0.005 benign 0.72 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1311255204 3q22.1 3 131080547G> C null V L 43 43 missense 0.005 benign 0.72 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1486517036 3q22.1 3 131080551A> C null E A 44 44 missense 0.691 possibly damaging 0.13 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1399040404 3q22.1 3 131080550G> C null E Q 44 44 missense 0.273 benign 0.05 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ExAC,gnomAD rs548072338 3q22.1 3 131080558T> A null D E 46 46 2.0E-4 missense 0.005 benign 0.22 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs943684003 3q22.1 3 131080566G> T null C F 49 49 missense 0.997 probably damaging 0.14 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) Ensembl rs1560302420 3q22.1 3 131080568A> C null I L 50 50 missense 0.436 benign 0.1 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs757567736 3q22.1 3 131080569T> C null I T 50 50 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs781404393 3q22.1 3 131080572T> A null I N 51 51 missense 0.774 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs781404393 3q22.1 3 131080572T> C null I T 51 51 missense 0.098 benign 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs750640296 3q22.1 3 131080574A> G null T A 52 52 missense 0.854 possibly damaging 0.05 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs200709914 [UniProt]: a colorectal adenocarcinoma sample; somatic mutation pubmed:17344846 3q22.1 3 131080575C> T null T M 52 52 2.0E-4 missense 0.542 possibly damaging 0.91 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1172304184 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q22.1 3 131080581A> G null Y C 54 54 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1413445502 3q22.1 3 131109803G> C null G R 57 57 missense 0.692 possibly damaging 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1438752412 3q22.1 3 131109804G> T null G V 57 57 missense 0.962 probably damaging 0.03 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1323833222 3q22.1 3 131109806C> T null R * 58 58 stop gained 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs200944744 3q22.1 3 131109807G> A null R Q 58 58 missense 0.005 benign 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1447351712 3q22.1 3 131109813T> C null L P 60 60 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1225169026 3q22.1 3 131109819A> G null D G 62 62 missense 0.0 benign 0.51 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,TOPMed,gnomAD rs142683282 3q22.1 3 131109818G> A null D N 62 62 missense 0.003 benign 0.54 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs780098942 3q22.1 3 131109821A> G null K E 63 63 missense 0.248 benign 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs749410135 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q22.1 3 131109825T> A null I N 64 64 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs749410135 3q22.1 3 131109825T> C null I T 64 64 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs768799271 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 3q22.1 3 131109827C> T null Q * 65 65 stop gained 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs768799271 3q22.1 3 131109827C> G null Q E 65 65 missense 0.007 benign 0.2 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1239752192 3q22.1 3 131109828A> C null Q P 65 65 missense 0.522 possibly damaging 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373647452 3q22.1 3 131109835T> G null Y * 67 67 missense 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs55806123 pubmed:17344846 3q22.1 3 131109834A> G null Y C 67 67 0.004193 missense 0.007 benign 0.05 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs200124212 3q22.1 3 131109833T> C null Y H 67 67 3.99E-4 missense 0.019 benign 0.18 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1471343156 3q22.1 3 131109837A> C null K T 68 68 missense 0.735 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1207376876 3q22.1 3 131109839C> T null Q * 69 69 stop gained 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1207376876 3q22.1 3 131109839C> G null Q E 69 69 missense 0.0 benign 0.56 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) Ensembl rs745678976 3q22.1 3 131109857C> T null P S 75 75 missense 0.001 benign 0.44 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs926320224 3q22.1 3 131109862A> T null E D 76 76 missense 0.105 benign 0.04 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1387342634 3q22.1 3 131109867A> C null Q P 78 78 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs760281142 3q22.1 3 131109873T> A null I K 80 80 missense 0.074 benign 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs770644981 3q22.1 3 131109879G> C null W S 82 82 missense 0.985 probably damaging 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1444062646 3q22.1 3 131109882T> A null F Y 83 83 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1355031432 3q22.1 3 131109884A> G null I V 84 84 missense 0.007 benign 0.95 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs776096000 3q22.1 3 131109894T> C null L P 87 87 missense 0.967 probably damaging 0.03 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,gnomAD rs201454546 3q22.1 3 131109902G> A null V I 90 90 2.0E-4 missense 0.202 benign 0.13 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1055451944 3q22.1 3 131109912T> A null M K 93 93 missense 0.161 benign 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs910000676 3q22.1 3 131109911A> G null M V 93 93 missense 0.005 benign 0.31 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,TOPMed,gnomAD rs147575246 3q22.1 3 131109915A> T null H L 94 94 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,TOPMed,gnomAD rs147575246 3q22.1 3 131109915A> G null H R 94 94 missense 0.891 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs752126687 3q22.1 3 131109917G> A null E K 95 95 missense 0.007 benign 0.19 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1195770571 3q22.1 3 131109920A> G null R G 96 96 missense 0.222 benign 0.03 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1025474227 3q22.1 3 131132747G> A null R K 97 97 missense 0.0 benign 0.68 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1292907313 3q22.1 3 131132752C> T null L F 99 99 missense 0.622 possibly damaging 0.03 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs762410247 3q22.1 3 131132753T> G null L R 99 99 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs768092682 3q22.1 3 131132756A> T null H L 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs768092682 3q22.1 3 131132756A> G null H R 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1480456607 3q22.1 3 131132755C> T null H Y 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs886926440 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:24292195,cosmic_study:563 3q22.1 3 131132758C> T null R * 101 101 missense 1 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs750840282 3q22.1 3 131132759G> A null R Q 101 101 missense 0.348 benign 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs926108950 3q22.1 3 131132761G> A null D N 102 102 missense 0.559 possibly damaging 0.04 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs766651032 3q22.1 3 131132771C> G null S * 105 105 stop gained 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs759742040 3q22.1 3 131132770T> C null S P 105 105 missense 0.522 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs759742040 3q22.1 3 131132770T> A null S T 105 105 missense 0.003 benign 0.68 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) Ensembl rs1560563226 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 3q22.1 3 131132775G> T null K N 106 106 missense 0.586 possibly damaging 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375552131 3q22.1 3 131132779G> A null V I 108 108 missense 0.001 benign 1.0 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375552131 3q22.1 3 131132779G> T null V L 108 108 missense 0.003 benign 0.05 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1203598520 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q22.1 3 131132785C> A null L M 110 110 missense 0.577 possibly damaging 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs752850838 3q22.1 3 131132796T> A null N K 113 113 missense 0.139 benign 0.17 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs765443457 3q22.1 3 131132795A> G null N S 113 113 missense 0.452 possibly damaging 0.05 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs758500840 3q22.1 3 131132797C> T null L F 114 114 missense 0.019 benign 0.24 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs758500840 3q22.1 3 131132797C> A null L I 114 114 missense 0.025 benign 0.7 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1452346255 3q22.1 3 131132798T> C null L P 114 114 missense 0.419 benign 0.03 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1242555752 3q22.1 3 131132801T> C null L P 115 115 missense 0.093 benign 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,TOPMed,gnomAD rs368574258 3q22.1 3 131132808T> G null I M 117 117 missense 0.897 possibly damaging 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1339846686 3q22.1 3 131132807T> C null I T 117 117 missense 0.691 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC rs750294943 3q22.1 3 131133845C> G null S C 123 123 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs900688268 3q22.1 3 131133847C> T null R * 124 124 missense 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368227653 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 3q22.1 3 131133848G> A null R Q 124 124 missense 0.884 possibly damaging 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114884358 3q22.1 3 131133858G> A null M I 127 127 2.0E-4 missense 0.005 benign 0.21 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs779814127 3q22.1 3 131133856A> G null M V 127 127 missense 0.003 benign 0.32 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1299673674 3q22.1 3 131133859G> T null G * 128 128 missense 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1342652363 cosmic curated [Cosmic]: lung cosmic_study:583 3q22.1 3 131133860G> A null G E 128 128 missense 0.586 possibly damaging 0.01 deleterious 1 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs778592358 3q22.1 3 131133869A> G null D G 131 131 missense 0.836 possibly damaging 0.03 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ExAC,gnomAD rs200532643 3q22.1 3 131133868G> A null D N 131 131 2.0E-4 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145728410 3q22.1 3 131133881C> T null T I 135 135 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs781764881 3q22.1 3 131133884T> C null L S 136 136 missense 0.197 benign 0.04 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs746370617 3q22.1 3 131133902A> G null Y C 142 142 missense 0.719 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs746370617 3q22.1 3 131133902A> T null Y F 142 142 missense 0.422 benign 0.04 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs775973882 3q22.1 3 131133907A> C null S R 144 144 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1391280114 3q22.1 3 131133910C> T null P S 145 145 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs763274744 3q22.1 3 131133913G> A null E K 146 146 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs763274744 3q22.1 3 131133913G> C null E Q 146 146 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs768792155 3q22.1 3 131133916G> A null A T 147 147 missense 0.018 benign 0.19 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs774574584 3q22.1 3 131133920T> C null L P 148 148 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1317886436 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q22.1 3 131133928C> G null Q E 151 151 missense 0.003 benign 0.26 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1369612748 3q22.1 3 131133929A> G null Q R 151 151 missense 0.003 benign 0.12 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1015238114 3q22.1 3 131133935A> G null Y C 153 153 missense 0.403 benign 0.03 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs189216038 3q22.1 3 131133941C> T null T I 155 155 3.99E-4 missense 0.272 benign 0.31 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs189216038 3q22.1 3 131133941C> G null T R 155 155 3.99E-4 missense 0.059 benign 0.27 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,TOPMed,dbSNP,gnomAD rs55920129 pubmed:17344846 3q22.1 3 131133947C> T null S L 157 157 missense 0.329 benign 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs776569792 3q22.1 3 131152388G> A null W * 160 160 stop gained 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs759250887 3q22.1 3 131152390C> T null S L 161 161 missense 0.838 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs752348297 3q22.1 3 131152392C> A null L M 162 162 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs763736419 3q22.1 3 131152396C> A null A E 163 163 missense 0.733 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs758099709 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q22.1 3 131152395G> A null A T 163 163 missense 0.462 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs756777968 3q22.1 3 131152399G> A null C Y 164 164 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs767561326 3q22.1 3 131152404T> G null L V 166 166 missense 1.0 probably damaging 0.2 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs755357329 3q22.1 3 131152408A> T null Y F 167 167 missense 0.299 benign 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1286485077 3q22.1 3 131152414T> C null M T 169 169 missense 0.628 possibly damaging 0.03 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs779316802 3q22.1 3 131152413A> G null M V 169 169 missense 0.062 benign 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1302763370 3q22.1 3 131152418C> A null C * 170 170 stop gained 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs748361250 3q22.1 3 131152416T> G null C G 170 170 missense 0.099 benign 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs748361250 3q22.1 3 131152416T> A null C S 170 170 missense 0.559 possibly damaging 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs772315660 3q22.1 3 131152420G> C null C S 171 171 missense 0.086 benign 0.26 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs772315660 cosmic curated [Cosmic]: liver cosmic_study:322 3q22.1 3 131152420G> A null C Y 171 171 missense 0.673 possibly damaging 0.01 deleterious 1 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs773377290 3q22.1 3 131152423T> A null M K 172 172 missense 0.303 benign 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1484228868 3q22.1 3 131152426A> G null N S 173 173 missense 0.003 benign 0.03 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1206165889 3q22.1 3 131152429A> C null H P 174 174 missense 0.059 benign 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ExAC,gnomAD rs532250406 3q22.1 3 131152430T> A null H Q 174 174 2.0E-4 missense 0.098 benign 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1366499027 3q22.1 3 131152431G> A null A T 175 175 missense 0.89 possibly damaging 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs776495361 3q22.1 3 131152432C> T null A V 175 175 missense 0.299 benign 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs547475674 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q22.1 3 131152437G> A null A T 177 177 5.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs775322923 3q22.1 3 131152440G> T null G C 178 178 missense 0.795 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs763861611 3q22.1 3 131152441G> A null G D 178 178 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs775322923 3q22.1 3 131152440G> A null G S 178 178 missense 0.684 possibly damaging 0.04 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1368525156 3q22.1 3 131152444C> G null S C 179 179 missense 0.007 benign 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1406773926 3q22.1 3 131152447A> G null N S 180 180 missense 0.009 benign 0.4 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs751190905 3q22.1 3 131152459T> C null I T 184 184 missense 0.197 benign 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs756894510 3q22.1 3 131152465T> A null L * 186 186 stop gained 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs767041777 3q22.1 3 131152469A> T null K N 187 187 missense 0.104 benign 0.03 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) Ensembl rs1194265303 3q22.1 3 131152468A> G null K R 187 187 missense 0.783 possibly damaging 0.18 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1393920350 3q22.1 3 131152473G> A null V I 189 189 missense 0.275 benign 0.38 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs754350317 3q22.1 3 131152480G> A null G D 191 191 missense 0.238 benign 0.07 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) Ensembl rs1560661394 3q22.1 3 131152484C> G null D E 192 192 missense 0.003 benign 0.69 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1245832356 3q22.1 3 131152489C> A null P H 194 194 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed rs755476889 3q22.1 3 131152488C> T null P S 194 194 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1295984496 3q22.1 3 131152492C> T null S F 195 195 missense 0.459 possibly damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed,gnomAD rs1029831619 3q22.1 3 131152494C> T null L F 196 196 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs779244638 3q22.1 3 131152498C> A null P H 197 197 missense 0.975 probably damaging 0.01 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs779244638 3q22.1 3 131152498C> T null P L 197 197 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1351097984 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q22.1 3 131152504G> A null R K 199 199 missense 0.012 benign 0.25 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,TOPMed rs150253539 3q22.1 3 131152508T> G null Y * 200 200 stop gained 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs1040285554 3q22.1 3 131152509C> T null P S 201 201 missense 0.005 benign 1.0 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs777979775 3q22.1 3 131152512A> G null K E 202 202 missense 0.003 benign 0.9 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs747231645 3q22.1 3 131152514A> T null K N 202 202 missense 0.003 benign 0.48 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs770977418 3q22.1 3 131152515G> T null E * 203 203 stop gained 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,TOPMed,gnomAD rs781312028 3q22.1 3 131152516A> G null E G 203 203 missense 0.018 benign 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374241502 3q22.1 3 131152518C> A null L I 204 204 missense 0.965 probably damaging 0.04 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1169050856 3q22.1 3 131152519T> A null L Q 204 204 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374241502 3q22.1 3 131152518C> G null L V 204 204 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC rs775243170 3q22.1 3 131152523T> A null N K 205 205 missense 0.023 benign 0.21 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ESP,ExAC,TOPMed,dbSNP,gnomAD rs35567155 pubmed:17344846 3q22.1 3 131152527A> G null I V 207 207 missense 0.005 benign 0.58 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201954356 3q22.1 3 131152530A> G null M V 208 208 missense 0.007 benign 0.35 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) gnomAD rs1402325602 3q22.1 3 131152540A> C null Y S 211 211 missense 0.031 benign 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs761534097 3q22.1 3 131152542A> G null R G 212 212 missense 0.0 benign 0.02 deleterious 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) ExAC,gnomAD rs766974591 3q22.1 3 131152546A> G null N S 213 213 missense 0.012 benign 0.05 tolerated 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) Ensembl rs111740052 3q22.1 3 131152558T> C null V A 217 217 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7B3 NEK11 Serine/threonine-protein kinase Nek11 (Fragment) TOPMed rs962936171 3q22.1 3 131152557G> A null V I 217 217 missense 0.015 benign 0.12 tolerated - low confidence 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1250555152 1q32.1 1 206473233G> C null Q H 2 2 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1315790995 1q32.1 1 206473232A> G null Q R 2 2 missense 0.941 probably damaging 0.12 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1233452347 1q32.1 1 206473235G> A null S N 3 3 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1332453725 1q32.1 1 206473241C> A null A D 5 5 missense 0.421 benign 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782638358 1q32.1 1 206473240G> A null A T 5 5 missense 0.007 benign 0.38 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1332453725 1q32.1 1 206473241C> T null A V 5 5 missense 0.007 benign 0.56 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782299835 1q32.1 1 206473254G> T null W C 9 9 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1553384268 1q32.1 1 206473258A> G null T A 11 11 missense 0.364 benign 0.31 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384271 1q32.1 1 206473261G> C null D H 12 12 missense 0.934 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs771328607 1q32.1 1 206473266C> A null D E 13 13 missense 0.137 benign 0.06 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782356770 1q32.1 1 206473273G> A null G R 16 16 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1439475051 1q32.1 1 206473280G> A null G E 18 18 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384294 1q32.1 1 206473303G> T null A S 26 26 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384294 1q32.1 1 206473303G> A null A T 26 26 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384299 1q32.1 1 206473304C> T null A V 26 26 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1396141437 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206473306C> T null R C 27 27 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384304 1q32.1 1 206473307G> A null R H 27 27 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1173541599 1q32.1 1 206473314G> T null K N 29 29 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384574 1q32.1 1 206474331A> C null K Q 30 30 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384578 1q32.1 1 206474335C> G null S C 31 31 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384578 1q32.1 1 206474335C> A null S Y 31 31 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs549538401 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474337G> A null G R 32 32 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1254928806 1q32.1 1 206474344T> G null L R 34 34 missense 0.959 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,TOPMed,gnomAD rs139083235 1q32.1 1 206474343C> G null L V 34 34 missense 0.113 benign 0.13 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1186805906 1q32.1 1 206474346G> C null V L 35 35 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs781957364 1q32.1 1 206474352G> A null V M 37 37 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1447034305 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474367A> G null T A 42 42 missense 0.007 benign 0.38 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1285749873 1q32.1 1 206474370A> G null T A 43 43 missense 0.0 benign 0.63 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782264666 1q32.1 1 206474377A> T null Y F 45 45 missense 0.999 probably damaging 0.3 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384595 1q32.1 1 206474380T> C null L P 46 46 missense 0.878 possibly damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs56035621 1q32.1 1 206474379C> G null L V 46 46 3.99E-4 missense 0.447 possibly damaging 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781921697 1q32.1 1 206474383G> A null R Q 47 47 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367771392 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474382C> T null R W 47 47 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782098949 1q32.1 1 206474385C> A null P T 48 48 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143140330 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474388C> T null R C 49 49 missense 0.828 possibly damaging 0.17 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150428746 1q32.1 1 206474389G> A null R H 49 49 missense 0.013 benign 0.63 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150428746 1q32.1 1 206474389G> T null R L 49 49 missense 0.013 benign 0.76 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782440026 1q32.1 1 206474391G> A null E K 50 50 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782219958 1q32.1 1 206474400G> A null V M 53 53 missense 0.058 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1462772133 1q32.1 1 206474406G> A null E K 55 55 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs903641024 1q32.1 1 206474411T> G null F L 56 56 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782640857 1q32.1 1 206474422G> A null R Q 60 60 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782526732 1q32.1 1 206474421C> T null R W 60 60 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1254120155 1q32.1 1 206474437A> G null Q R 65 65 missense 0.543 possibly damaging 0.06 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs56278223 1q32.1 1 206474442A> G null I V 67 67 missense 0.149 benign 0.07 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781937364 1q32.1 1 206474445G> A null V I 68 68 missense 0.036 benign 0.1 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1219691632 1q32.1 1 206474449A> G null K R 69 69 missense 0.307 benign 0.14 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs201577746 1q32.1 1 206474457G> A null A T 72 72 missense 0.858 possibly damaging 0.06 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782361671 1q32.1 1 206474458C> T null A V 72 72 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs372072572 1q32.1 1 206474460G> T null V L 73 73 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs372072572 1q32.1 1 206474460G> A null V M 73 73 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs534317345 1q32.1 1 206474469A> G null T A 76 76 2.0E-4 missense 0.366 benign 0.39 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs554685342 1q32.1 1 206474470C> T null T M 76 76 2.0E-4 missense 0.193 benign 0.22 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs202128741 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474868G> A null G R 78 78 2.0E-4 missense 0.433 benign 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782466362 1q32.1 1 206474875G> A null R Q 80 80 missense 0.058 benign 0.11 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149591181 1q32.1 1 206474874C> T null R W 80 80 3.99E-4 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384816 1q32.1 1 206474879G> C null Q H 81 81 missense 0.043 benign 0.36 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs956532765 1q32.1 1 206474881A> G null K R 82 82 missense 0.105 benign 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1300049768 1q32.1 1 206474895G> T null E * 87 87 stop gained 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1370253843 1q32.1 1 206474898T> C null Y H 88 88 missense 0.073 benign 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1174339324 1q32.1 1 206474911G> A null G E 92 92 missense 0.453 possibly damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384828 1q32.1 1 206474915C> G null S R 93 93 missense 0.899 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384828 1q32.1 1 206474915C> A null S R 93 93 missense 0.899 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1396790508 1q32.1 1 206474919C> A null L M 95 95 missense 0.273 benign 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782184393 1q32.1 1 206474922A> G null S G 96 96 missense 0.341 benign 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,gnomAD rs372489938 1q32.1 1 206474923G> C null S T 96 96 missense 0.025 benign 0.67 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs917655681 1q32.1 1 206474931G> A null E K 99 99 missense 0.783 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384847 1q32.1 1 206474943A> G null N D 103 103 missense 0.812 possibly damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA rs782265859 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474946G> A null A T 104 104 missense 0.046 benign 0.14 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782028061 1q32.1 1 206474950T> G null F C 105 105 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs949192935 1q32.1 1 206474955C> A null L M 107 107 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782092694 1q32.1 1 206474959C> G null P R 108 108 missense 0.642 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781913394 1q32.1 1 206474958C> T null P S 108 108 missense 0.015 benign 0.26 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384881 1q32.1 1 206474962A> T null E V 109 109 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782723974 1q32.1 1 206474965A> G null D G 110 110 missense 0.087 benign 0.16 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1210947605 1q32.1 1 206474964G> A null D N 110 110 missense 0.007 benign 0.18 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1558473109 1q32.1 1 206474973C> G null L V 113 113 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1349445353 1q32.1 1 206474976G> A null V M 114 114 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384904 1q32.1 1 206474979G> T null V L 115 115 missense 0.071 benign 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,gnomAD rs782549877 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474985C> T null R C 117 117 missense 0.88 possibly damaging 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55721947 1q32.1 1 206474986G> A null R H 117 117 2.0E-4 missense 0.046 benign 0.19 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55721947 1q32.1 1 206474986G> C null R P 117 117 2.0E-4 missense 0.756 possibly damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384909 1q32.1 1 206474988T> A null C S 118 118 missense 0.17 benign 0.74 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1336670825 1q32.1 1 206474994G> C null V L 120 120 missense 0.61 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782627812 1q32.1 1 206476186G> A null G S 122 122 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781928069 1q32.1 1 206476202G> T null R L 127 127 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781928069 1q32.1 1 206476202G> A null R Q 127 127 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs370426628 1q32.1 1 206476201C> T null R W 127 127 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1186302502 1q32.1 1 206476205A> G null E G 128 128 missense 0.012 benign 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41296028 1q32.1 1 206476204G> A null E K 128 128 2.0E-4 missense 0.575 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782342986 1q32.1 1 206476207A> C null N H 129 129 missense 0.067 benign 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs147688366 1q32.1 1 206476210G> A null G S 130 130 missense 0.334 benign 0.06 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1207194500 1q32.1 1 206476216G> A null V M 132 132 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1464747771 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206476223G> A null R H 134 134 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs781888555 1q32.1 1 206476226A> C null D A 135 135 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1211870723 1q32.1 1 206476225G> A null D N 135 135 missense 0.534 possibly damaging 0.05 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782067243 1q32.1 1 206476228A> T null I F 136 136 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782697959 1q32.1 1 206476230C> G null I M 136 136 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385247 1q32.1 1 206476235C> T null P L 138 138 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782456876 1q32.1 1 206476238G> C null G A 139 139 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1228295274 1q32.1 1 206476237G> T null G W 139 139 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1432582527 1q32.1 1 206476240A> G null N D 140 140 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782543224 1q32.1 1 206476246A> G null M V 142 142 missense 0.298 benign 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs139869900 1q32.1 1 206476250G> A null R H 143 143 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs139869900 1q32.1 1 206476250G> T null R L 143 143 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782588565 1q32.1 1 206476249C> A null R S 143 143 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs373699027 1q32.1 1 206476255G> A null V I 145 145 missense 0.007 benign 0.75 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs373699027 1q32.1 1 206476255G> C null V L 145 145 missense 0.006 benign 0.31 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1392521256 1q32.1 1 206476259G> A null G E 146 146 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs149608778 1q32.1 1 206476263G> C null E D 147 147 missense 0.018 benign 0.12 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs937888346 1q32.1 1 206476261G> A null E K 147 147 missense 0.027 benign 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs920544265 1q32.1 1 206476267G> A null G R 149 149 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782271671 1q32.1 1 206476270C> G null Q E 150 150 missense 0.769 possibly damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782165427 1q32.1 1 206476274G> T null S I 151 151 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385296 1q32.1 1 206476286T> C null L P 155 155 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782100237 1q32.1 1 206476297G> A null G S 159 159 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1344445148 1q32.1 1 206476300G> A null A T 160 160 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs930474620 1q32.1 1 206476304C> T null A V 161 161 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed rs782109082 1q32.1 1 206476307G> C null R P 162 162 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,TOPMed rs782109082 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206476307G> A null R Q 162 162 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs781992974 1q32.1 1 206476306C> T null R W 162 162 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1226107989 1q32.1 1 206476317T> A null D E 165 165 missense 0.028 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782797055 1q32.1 1 206476316A> G null D G 165 165 missense 0.007 benign 0.12 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782797055 1q32.1 1 206476316A> T null D V 165 165 missense 0.571 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs374373296 1q32.1 1 206476321G> A null D N 167 167 missense 0.836 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs202057912 1q32.1 1 206476326G> T null E D 168 168 2.0E-4 missense 0.933 probably damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385318 1q32.1 1 206476324G> A null E K 168 168 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782752327 1q32.1 1 206476327A> G null K E 169 169 missense 0.154 benign 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1438395157 1q32.1 1 206476328A> G null K R 169 169 missense 0.022 benign 0.09 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs764259024 1q32.1 1 206476333G> A null V I 171 171 missense 0.02 benign 0.15 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1409863141 1q32.1 1 206476340T> C null V A 173 173 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782647020 1q32.1 1 206476353G> C null E D 177 177 missense 0.933 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs376489390 1q32.1 1 206476685A> G null D G 183 183 missense 0.566 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201666998 1q32.1 1 206476684G> A null D N 183 183 2.0E-4 missense 0.107 benign 0.04 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145501152 1q32.1 1 206476697G> T null R L 187 187 2.0E-4 missense 0.806 possibly damaging 0.04 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145501152 1q32.1 1 206476697G> A null R Q 187 187 2.0E-4 missense 0.178 benign 0.04 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs202115463 1q32.1 1 206476696C> T null R W 187 187 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1553385432 1q32.1 1 206476699G> A null A T 188 188 missense 0.85 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,TOPMed,gnomAD rs782704785 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206476700C> T null A V 188 188 missense 0.758 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,gnomAD rs782081148 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q32.1 1 206476708C> T null R * 191 191 stop gained 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs540205249 1q32.1 1 206476709G> A null R Q 191 191 2.0E-4 missense 0.486 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1458595332 1q32.1 1 206476713G> T null K N 192 192 missense 0.862 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,gnomAD rs149937552 1q32.1 1 206476718A> C null Q P 194 194 missense 0.037 benign 0.04 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,gnomAD rs149937552 1q32.1 1 206476718A> G null Q R 194 194 missense 0.543 possibly damaging 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782622262 1q32.1 1 206476720C> G null Q E 195 195 missense 0.236 benign 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782265530 1q32.1 1 206476727C> T null A V 197 197 missense 0.047 benign 0.07 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP rs147887008 1q32.1 1 206476733G> A null G E 199 199 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1451035448 1q32.1 1 206476732G> A null G R 199 199 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1451035448 1q32.1 1 206476732G> C null G R 199 199 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,TOPMed rs372503127 1q32.1 1 206476735G> T null V L 200 200 missense 0.686 possibly damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,TOPMed rs372503127 1q32.1 1 206476735G> C null V L 200 200 missense 0.686 possibly damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782333633 1q32.1 1 206476738A> T null T S 201 201 missense 0.047 benign 0.13 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP rs143832955 1q32.1 1 206476751G> A null W * 205 205 stop gained 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1553385462 1q32.1 1 206476759G> A null G R 208 208 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1011590855 1q32.1 1 206476770G> T null L F 211 211 missense 0.278 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782336421 1q32.1 1 206476768T> A null L M 211 211 missense 0.985 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782001341 1q32.1 1 206476775A> G null H R 213 213 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385473 1q32.1 1 206476777G> A null A T 214 214 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385476 1q32.1 1 206476798T> C null F L 221 221 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385478 1q32.1 1 206476811G> A null G D 225 225 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385480 1q32.1 1 206476813G> A null G R 226 226 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782103435 1q32.1 1 206476820G> A null R Q 228 228 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,NCI-TCGA,TOPMed,gnomAD rs377576134 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206476823G> A null R Q 229 229 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1021086074 1q32.1 1 206476822C> T null R W 229 229 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385489 1q32.1 1 206476827C> G null N K 230 230 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782815039 1q32.1 1 206476826A> G null N S 230 230 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782571698 1q32.1 1 206476834A> C null I L 233 233 missense 0.169 benign 0.09 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1292032364 1q32.1 1 206476835T> A null I N 233 233 missense 0.826 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1404338780 1q32.1 1 206476838T> C null M T 234 234 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782160603 1q32.1 1 206477754G> A null R Q 236 236 missense 0.078 benign 0.05 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs868911910 1q32.1 1 206477753C> T null R W 236 236 missense 0.924 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC rs782809326 1q32.1 1 206477756A> T null I F 237 237 missense 0.162 benign 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC rs781810395 1q32.1 1 206477757T> A null I N 237 237 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs148172544 1q32.1 1 206477763C> T null T M 239 239 missense 0.896 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781821296 1q32.1 1 206477772C> T null P L 242 242 missense 0.97 probably damaging 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781821296 1q32.1 1 206477772C> A null P Q 242 242 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782633812 1q32.1 1 206477784T> C null I T 246 246 missense 0.233 benign 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1553385805 1q32.1 1 206477783A> G null I V 246 246 missense 0.607 possibly damaging 0.05 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385807 1q32.1 1 206477786G> A null A T 247 247 missense 0.783 possibly damaging 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385808 1q32.1 1 206477790G> A null G D 248 248 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385810 1q32.1 1 206477792G> A null A T 249 249 missense 0.0 benign 0.58 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385811 1q32.1 1 206477793C> T null A V 249 249 missense 0.0 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144428994 1q32.1 1 206477802G> A null R Q 252 252 missense 0.007 benign 0.97 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs533634715 1q32.1 1 206477801C> T null R W 252 252 2.0E-4 missense 0.018 benign 0.16 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385831 1q32.1 1 206477806G> C null E D 253 253 missense 0.894 possibly damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385826 1q32.1 1 206477804G> A null E K 253 253 missense 0.933 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385836 1q32.1 1 206477810G> A null G R 255 255 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385842 1q32.1 1 206477814C> T null P L 256 256 missense 0.134 benign 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC rs782007787 1q32.1 1 206477813C> T null P S 256 256 missense 0.134 benign 0.33 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782427534 1q32.1 1 206477820A> G null E G 258 258 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385845 1q32.1 1 206477824G> C null W C 259 259 missense 0.162 benign 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385851 1q32.1 1 206477826G> A null S N 260 260 missense 0.073 benign 0.06 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385854 1q32.1 1 206477832C> T null T I 262 262 missense 0.056 benign 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385854 1q32.1 1 206477832C> A null T N 262 262 missense 0.038 benign 0.07 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782067873 1q32.1 1 206477834C> T null L F 263 263 missense 0.162 benign 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs781889892 1q32.1 1 206478162G> A null G E 272 272 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385952 1q32.1 1 206478167C> A null Q K 274 274 missense 0.098 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs781994897 1q32.1 1 206478171G> T null S I 275 275 missense 0.031 benign 0.16 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782111869 1q32.1 1 206478172C> G null S R 275 275 missense 0.361 benign 0.48 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385960 1q32.1 1 206478183C> T null P L 279 279 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1269652982 1q32.1 1 206478182C> A null P T 279 279 missense 0.897 possibly damaging 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1224901062 1q32.1 1 206478192C> G null A G 282 282 missense 0.019 benign 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553385974 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206478191G> T null A S 282 282 missense 0.686 possibly damaging 0.06 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1224901062 1q32.1 1 206478192C> T null A V 282 282 missense 0.874 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782019674 1q32.1 1 206478213A> T null Q L 289 289 missense 0.628 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782066241 1q32.1 1 206478215G> A null A T 290 290 missense 0.697 possibly damaging 0.07 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782687981 1q32.1 1 206478220G> T null K N 291 291 missense 0.691 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1339859715 1q32.1 1 206478233G> A null D N 296 296 missense 0.329 benign 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,gnomAD rs370890474 1q32.1 1 206478236C> T null Q * 297 297 stop gained 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1271766187 1q32.1 1 206478246C> T null A V 300 300 missense 0.942 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1325559311 1q32.1 1 206478250G> C null E D 301 301 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1325559311 1q32.1 1 206478250G> T null E D 301 301 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782536745 1q32.1 1 206478251A> G null T A 302 302 missense 0.869 possibly damaging 0.1 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs578108079 1q32.1 1 206478252C> G null T S 302 302 0.001198 missense 0.612 possibly damaging 0.05 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,gnomAD rs529336020 1q32.1 1 206478266C> A null Q K 307 307 2.0E-4 missense 0.12 benign 0.18 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1410830322 1q32.1 1 206478269C> T null R * 308 308 stop gained 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1410830322 1q32.1 1 206478269C> G null R G 308 308 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782254432 1q32.1 1 206478270G> A null R Q 308 308 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782363908 1q32.1 1 206478272G> C null V L 309 309 missense 0.007 benign 0.38 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs149987336 1q32.1 1 206478278G> A null V I 311 311 missense 0.049 benign 0.43 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782327309 1q32.1 1 206478281C> T null H Y 312 312 missense 0.159 benign 0.18 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781917618 1q32.1 1 206478284G> A null V I 313 313 missense 0.329 benign 0.18 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386044 1q32.1 1 206478291C> T null S F 315 315 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1022603078 1q32.1 1 206478303C> A null A E 319 319 missense 0.691 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1430265856 1q32.1 1 206478309T> C null L P 321 321 missense 0.843 possibly damaging 0.15 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs543016946 1q32.1 1 206478311C> T null H Y 322 322 3.99E-4 missense 0.041 benign 0.04 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386055 1q32.1 1 206478314C> T null H Y 323 323 missense 0.255 benign 0.73 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782163104 1q32.1 1 206478317A> G null I V 324 324 missense 0.0 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386060 1q32.1 1 206478321A> G null Y C 325 325 missense 0.923 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs868950433 1q32.1 1 206478326C> T null H Y 327 327 missense 0.935 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1266628286 1q32.1 1 206478330C> G null A G 328 328 missense 0.007 benign 0.28 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1553386062 1q32.1 1 206478336A> T null N I 330 330 missense 0.642 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386065 1q32.1 1 206478337C> A null N K 330 330 missense 0.299 benign 0.1 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782786838 1q32.1 1 206478339C> T null T M 331 331 missense 0.265 benign 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782155313 1q32.1 1 206478947G> C null A P 333 333 missense 0.867 possibly damaging 0.08 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs910626218 1q32.1 1 206478951T> C null I T 334 334 missense 0.691 possibly damaging 0.22 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1251881142 1q32.1 1 206478953T> G null F V 335 335 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782778574 1q32.1 1 206478956C> G null Q E 336 336 missense 0.071 benign 0.13 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782742334 1q32.1 1 206478966T> C null V A 339 339 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782430885 1q32.1 1 206478965G> T null V L 339 339 missense 0.999 probably damaging 0.14 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782430885 1q32.1 1 206478965G> A null V M 339 339 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781819901 1q32.1 1 206478972A> G null K R 341 341 missense 0.012 benign 0.36 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs978761085 1q32.1 1 206478978C> A null T N 343 343 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386245 1q32.1 1 206478992C> T null R * 348 348 stop gained 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs149219314 1q32.1 1 206478993G> C null R P 348 348 missense 0.124 benign 0.16 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149219314 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206478993G> A null R Q 348 348 missense 0.0 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386246 1q32.1 1 206478996A> T null H L 349 349 missense 0.197 benign 0.12 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782275520 1q32.1 1 206479001G> A null E K 351 351 missense 0.028 benign 0.07 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782465731 1q32.1 1 206479017G> A null G D 356 356 missense 0.517 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782567771 1q32.1 1 206479022C> T null L F 358 358 missense 0.029 benign 0.65 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782349260 1q32.1 1 206479026G> C null C S 359 359 missense 0.628 possibly damaging 0.16 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,TOPMed,gnomAD rs782242787 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206479034G> A null E K 362 362 missense 0.071 benign 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782054617 1q32.1 1 206479044T> A null V D 365 365 missense 0.183 benign 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781784265 1q32.1 1 206479043G> T null V F 365 365 missense 0.0 benign 0.09 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,TOPMed,gnomAD rs781784265 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206479043G> A null V I 365 365 missense 0.0 benign 0.13 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386266 1q32.1 1 206479050C> T null A V 367 367 missense 0.028 benign 0.39 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781966344 1q32.1 1 206479060C> G null I M 370 370 missense 0.411 benign 0.04 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17021877 1q32.1 1 206479061G> C null A P 371 371 0.03794 missense 0.02 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs17021877 pubmed:17344846 1q32.1 1 206479061G> A null A T 371 371 0.03794 missense 0.005 benign 0.2 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,TOPMed,gnomAD rs781909564 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206479068C> T null T M 373 373 missense 1.0 probably damaging 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782715972 1q32.1 1 206479071C> T null T M 374 374 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782715972 1q32.1 1 206479071C> G null T R 374 374 missense 0.97 probably damaging 0.04 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140533827 1q32.1 1 206479080G> A null S N 377 377 2.0E-4 missense 0.073 benign 0.74 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs781875532 1q32.1 1 206479092T> A null L H 381 381 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386298 1q32.1 1 206479097A> G null S G 383 383 missense 0.046 benign 0.05 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782677455 1q32.1 1 206479098G> A null S N 383 383 missense 0.046 benign 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,TOPMed,gnomAD rs782501971 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206479100A> G null T A 384 384 missense 0.0 benign 0.71 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782501971 1q32.1 1 206479100A> C null T P 384 384 missense 0.104 benign 0.36 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386307 1q32.1 1 206479104C> G null A G 385 385 missense 0.182 benign 0.28 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs151049025 1q32.1 1 206479108C> G null I M 386 386 missense 0.269 benign 0.14 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1384453577 1q32.1 1 206479110C> T null P L 387 387 missense 0.827 possibly damaging 0.13 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs782681154 1q32.1 1 206479114G> C null K N 388 388 missense 0.323 benign 0.38 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs879966456 1q32.1 1 206479119T> C null L P 390 390 missense 0.967 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,gnomAD rs534410005 1q32.1 1 206479122C> A null A D 391 391 2.0E-4 missense 0.543 possibly damaging 0.46 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs550962936 1q32.1 1 206479121G> T null A S 391 391 missense 0.026 benign 0.63 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386323 1q32.1 1 206479124T> C null F L 392 392 missense 0.065 benign 0.34 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386325 1q32.1 1 206479127A> G null R G 393 393 missense 0.691 possibly damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386326 1q32.1 1 206479128G> A null R K 393 393 missense 0.028 benign 0.13 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1290190793 1q32.1 1 206479130G> A null D N 394 394 missense 0.238 benign 0.06 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386503 1q32.1 1 206479872G> T null A S 396 396 missense 0.249 benign 0.26 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386506 1q32.1 1 206479873C> T null A V 396 396 missense 0.856 possibly damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782223266 1q32.1 1 206479876T> G null L R 397 397 missense 0.771 possibly damaging 0.05 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,TOPMed,gnomAD rs782392890 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q32.1 1 206479881G> A null V I 399 399 missense 0.001 benign 0.67 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1193536519 1q32.1 1 206479885C> T null P L 400 400 missense 0.691 possibly damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs145306712 1q32.1 1 206479888A> G null K R 401 401 missense 0.331 benign 0.1 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs143491598 1q32.1 1 206479893G> A null V I 403 403 missense 0.015 benign 0.43 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs143491598 1q32.1 1 206479893G> C null V L 403 403 missense 0.028 benign 0.7 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1321275987 1q32.1 1 206479899A> C null K Q 405 405 missense 0.915 probably damaging 0.1 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1274014354 1q32.1 1 206479903T> G null V G 406 406 missense 0.913 probably damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386528 1q32.1 1 206479905G> A null D N 407 407 missense 0.944 probably damaging 0.06 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs782747957 1q32.1 1 206479915C> T null A V 410 410 missense 0.586 possibly damaging 0.08 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782751880 1q32.1 1 206479925C> G null N K 413 413 missense 0.419 benign 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1399315851 1q32.1 1 206479923A> T null N Y 413 413 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782163725 1q32.1 1 206480026T> C null V A 418 418 missense 0.018 benign 0.28 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs145736762 1q32.1 1 206480025G> A null V M 418 418 missense 0.134 benign 0.15 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386569 1q32.1 1 206480029T> C null L S 419 419 missense 0.856 possibly damaging 0.15 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376382831 1q32.1 1 206480034G> T null A S 421 421 2.0E-4 missense 0.573 possibly damaging 0.19 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376382831 1q32.1 1 206480034G> A null A T 421 421 2.0E-4 missense 0.062 benign 0.31 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386572 1q32.1 1 206480035C> T null A V 421 421 missense 0.025 benign 0.61 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1312663807 1q32.1 1 206480037G> A null G S 422 422 missense 0.147 benign 0.54 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1366606980 1q32.1 1 206480053G> A null R Q 427 427 missense 0.013 benign 0.05 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs374485120 1q32.1 1 206480052C> T null R W 427 427 missense 0.0 benign 0.12 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386588 1q32.1 1 206480056T> C null L P 428 428 missense 0.908 possibly damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386591 1q32.1 1 206480058G> A null A T 429 429 missense 0.025 benign 0.18 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782442134 1q32.1 1 206480062G> A null R Q 430 430 missense 0.007 benign 0.91 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs368845063 1q32.1 1 206480061C> T null R W 430 430 missense 0.66 possibly damaging 0.05 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782574270 1q32.1 1 206480065C> A null A D 431 431 missense 0.361 benign 0.12 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782574270 1q32.1 1 206480065C> T null A V 431 431 missense 0.007 benign 0.35 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782217870 1q32.1 1 206480077G> C null G A 435 435 missense 0.018 benign 0.5 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386602 1q32.1 1 206480079C> A null Q K 436 436 missense 0.018 benign 0.04 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782340929 1q32.1 1 206480094C> G null R G 441 441 missense 0.855 possibly damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs200663079 1q32.1 1 206480095G> A null R Q 441 441 missense 0.178 benign 0.36 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782340929 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206480094C> T null R W 441 441 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386609 1q32.1 1 206480105C> A null H Q 444 444 missense 0.031 benign 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1379829897 1q32.1 1 206480108G> A null W * 445 445 stop gained 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1379829897 1q32.1 1 206480108G> C null W C 445 445 missense 0.979 probably damaging 0.05 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386612 1q32.1 1 206480112A> T null M L 447 447 missense 0.0 benign 0.35 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1174548942 1q32.1 1 206480113T> C null M T 447 447 missense 0.0 benign 0.1 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150772428 1q32.1 1 206480451G> T null V L 449 449 2.0E-4 missense 0.003 benign 0.96 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150772428 1q32.1 1 206480451G> A null V M 449 449 2.0E-4 missense 0.009 benign 0.33 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1336309654 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206480454C> T null L F 450 450 missense 0.96 probably damaging 0.08 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386771 1q32.1 1 206480458A> G null Q R 451 451 missense 0.02 benign 0.64 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782681189 1q32.1 1 206480461C> G null A G 452 452 missense 0.087 benign 0.41 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782495013 1q32.1 1 206480460G> A null A T 452 452 missense 0.003 benign 0.75 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,TOPMed,gnomAD rs782313349 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206480473G> A null R Q 456 456 missense 0.013 benign 0.36 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,TOPMed,gnomAD rs782278442 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206480472C> T null R W 456 456 missense 0.828 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1420107001 1q32.1 1 206480484G> C null V L 460 460 missense 0.012 benign 0.3 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782622789 1q32.1 1 206480487G> A null A T 461 461 missense 0.0 benign 0.6 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1381992138 1q32.1 1 206480488C> T null A V 461 461 missense 0.0 benign 0.29 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,gnomAD rs201028800 1q32.1 1 206480491G> A null R K 462 462 3.99E-4 missense 0.253 benign 0.47 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386787 1q32.1 1 206480494C> T null T I 463 463 missense 0.011 benign 0.26 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781990877 1q32.1 1 206480497C> G null S C 464 464 missense 0.473 possibly damaging 0.04 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140041163 1q32.1 1 206480499C> T null L F 465 465 2.0E-4 missense 0.913 probably damaging 0.49 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140041163 1q32.1 1 206480499C> G null L V 465 465 2.0E-4 missense 0.104 benign 0.47 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1237533583 1q32.1 1 206480505T> C null Y H 467 467 missense 0.357 benign 0.55 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386802 1q32.1 1 206480513C> A null S R 469 469 missense 0.628 possibly damaging 0.2 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781943218 1q32.1 1 206480518G> A null S N 471 471 missense 0.067 benign 0.47 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782741977 1q32.1 1 206480523G> A null G R 473 473 missense 0.036 benign 0.63 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781813109 1q32.1 1 206480531G> T null E D 475 475 missense 0.028 benign 0.12 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs201014436 1q32.1 1 206480533G> A null R K 476 476 missense 0.423 benign 0.38 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553386813 1q32.1 1 206480532A> T null R W 476 476 missense 0.059 benign 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553388205 1q32.1 1 206485001A> G null S G 478 478 missense 0.001 benign 0.24 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139758641 1q32.1 1 206485007G> A null V M 480 480 7.99E-4 missense 0.01 benign 0.42 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs541573643 1q32.1 1 206485013G> A null G R 482 482 missense 0.025 benign 0.35 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs52817862 1q32.1 1 206485017C> A null T K 483 483 0.002596 missense 0.003 benign 0.93 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs52817862 pubmed:17344846 1q32.1 1 206485017C> T null T M 483 483 0.002596 missense 0.006 benign 0.16 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782157591 1q32.1 1 206485041C> T null A V 491 491 missense 0.0 benign 0.23 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs916960929 1q32.1 1 206485047C> T null A V 493 493 missense 0.003 benign 0.11 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs948499703 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 1q32.1 1 206485049G> A null E K 494 494 missense 0.566 possibly damaging 0.14 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1490955570 1q32.1 1 206485059C> T null S F 497 497 missense 0.029 benign 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1289861158 1q32.1 1 206485061A> G null R G 498 498 missense 0.127 benign 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553388240 1q32.1 1 206485063G> T null R S 498 498 missense 0.087 benign 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781938435 1q32.1 1 206485067C> G null R G 500 500 missense 0.655 possibly damaging 0.16 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782731070 1q32.1 1 206485068G> A null R Q 500 500 missense 0.027 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,TOPMed,gnomAD rs781938435 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206485067C> T null R W 500 500 missense 0.91 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,gnomAD rs552333971 1q32.1 1 206485197G> A null A T 503 503 2.0E-4 missense 0.475 possibly damaging 0.17 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1281179215 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206485198C> T null A V 503 503 missense 0.049 benign 0.22 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs968670220 1q32.1 1 206485203G> T null V F 505 505 missense 0.642 possibly damaging 0.71 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1000180372 1q32.1 1 206485222A> C null Q P 511 511 missense 0.373 benign 0.23 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs199623162 1q32.1 1 206485231C> T null T M 514 514 2.0E-4 missense 0.092 benign 0.22 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41299015 1q32.1 1 206485235G> C null E D 515 515 0.005192 missense 0.104 benign 0.51 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,gnomAD rs567956347 1q32.1 1 206485236A> G null T A 516 516 2.0E-4 missense 0.011 benign 0.51 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782089509 1q32.1 1 206485237C> A null T N 516 516 missense 0.462 possibly damaging 0.31 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,gnomAD rs567956347 1q32.1 1 206485236A> T null T S 516 516 2.0E-4 missense 0.031 benign 0.4 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1395220205 1q32.1 1 206485247C> G null S R 519 519 missense 0.005 benign 0.59 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1303882419 1q32.1 1 206485251A> G null S G 521 521 missense 0.007 benign 0.31 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1471258899 1q32.1 1 206485253C> A null S R 521 521 missense 0.012 benign 0.4 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs879953097 1q32.1 1 206485264G> A null R Q 525 525 missense 0.003 benign 0.31 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,gnomAD rs781867739 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206485263C> T null R W 525 525 missense 0.54 possibly damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782680430 1q32.1 1 206485282G> A null R Q 531 531 missense 0.127 benign 0.49 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782500380 1q32.1 1 206485281C> T null R W 531 531 missense 0.171 benign 0.05 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141003735 1q32.1 1 206485284G> A null D N 532 532 9.98E-4 missense 0.105 benign 0.21 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141003735 1q32.1 1 206485284G> T null D Y 532 532 9.98E-4 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782557888 1q32.1 1 206485291T> C null V A 534 534 missense 0.393 benign 0.22 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782464431 1q32.1 1 206485290G> A null V I 534 534 missense 0.019 benign 0.18 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553388326 1q32.1 1 206485294A> G null H R 535 535 missense 0.027 benign 0.16 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1553388320 1q32.1 1 206485293C> T null H Y 535 535 missense 0.697 possibly damaging 0.31 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553389193 1q32.1 1 206487914C> A null S R 539 539 missense 0.159 benign 0.05 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs868931365 1q32.1 1 206487918C> A null Q K 541 541 missense 0.341 benign 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41299037 1q32.1 1 206487926T> G null I M 543 543 0.00619 missense 0.187 benign 0.49 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1558482178 1q32.1 1 206487937T> C null L S 547 547 missense 0.844 possibly damaging 0.1 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782317105 1q32.1 1 206487939G> A null D N 548 548 missense 0.839 possibly damaging 0.14 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553389208 1q32.1 1 206487943A> G null K R 549 549 missense 0.933 probably damaging 0.12 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs957949831 1q32.1 1 206487946T> A null M K 550 550 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782626505 1q32.1 1 206487948A> T null N Y 551 551 missense 0.0 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1558482207 1q32.1 1 206487953C> G null F L 552 552 missense 0.0 benign 0.8 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553389217 1q32.1 1 206487958A> G null Y C 554 554 missense 0.105 benign 0.05 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553389219 1q32.1 1 206487960A> G null K E 555 555 missense 0.022 benign 0.08 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782377287 1q32.1 1 206487961A> G null K R 555 555 missense 0.415 benign 0.16 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1553389222 1q32.1 1 206487967T> C null F S 557 557 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553389225 1q32.1 1 206487979G> A null R K 561 561 missense 0.028 benign 0.6 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781981008 1q32.1 1 206487981A> C null M L 562 562 missense 0.011 benign 0.61 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1553389229 1q32.1 1 206487987C> A null P T 564 564 missense 0.856 possibly damaging 0.62 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553390127 1q32.1 1 206490819G> A null G E 565 565 missense 0.982 probably damaging 0.16 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553390134 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206490821C> T null L F 566 566 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553390138 1q32.1 1 206490829C> G null Y * 568 568 stop gained 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782309605 1q32.1 1 206490833G> A null E K 570 570 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,gnomAD rs558511707 1q32.1 1 206490842A> G null I V 573 573 2.0E-4 missense 0.389 benign 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553390150 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206490846A> G null H R 574 574 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1348495884 1q32.1 1 206490854G> A null D N 577 577 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553390403 1q32.1 1 206491650T> A null V E 579 579 missense 0.771 possibly damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553390393 1q32.1 1 206491649G> A null V M 579 579 missense 0.273 benign 0.19 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1273214059 1q32.1 1 206491668C> T null A V 585 585 missense 0.953 probably damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs943351300 1q32.1 1 206491686T> C null V A 591 591 missense 0.019 benign 0.03 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs911981066 1q32.1 1 206491685G> A null V M 591 591 missense 0.572 possibly damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782299523 1q32.1 1 206491699G> C null E D 595 595 missense 0.007 benign 0.51 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1364887368 1q32.1 1 206491698A> G null E G 595 595 missense 0.0 benign 0.09 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782181622 1q32.1 1 206491704T> C null V A 597 597 missense 0.028 benign 0.12 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782580521 1q32.1 1 206491703G> A null V M 597 597 missense 0.286 benign 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200241005 1q32.1 1 206491706C> A null Q K 598 598 2.0E-4 missense 0.341 benign 0.16 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553390454 1q32.1 1 206491713A> G null Y C 600 600 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782141896 1q32.1 1 206491712T> C null Y H 600 600 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12059562 pubmed:17344846 1q32.1 1 206491719C> T null A V 602 602 0.2314 missense 0.015 benign 0.23 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs201532671 1q32.1 1 206491735C> A null H Q 607 607 missense 0.974 probably damaging 0.11 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1553390465 1q32.1 1 206491737G> C null G A 608 608 missense 0.187 benign 0.11 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs781787394 1q32.1 1 206491736G> A null G S 608 608 missense 0.082 benign 0.29 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553390467 1q32.1 1 206491742A> G null R G 610 610 missense 0.379 benign 0.28 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1196740276 1q32.1 1 206491743G> A null R K 610 610 missense 0.236 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553390471 1q32.1 1 206491745A> T null M L 611 611 missense 0.011 benign 0.25 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782095693 1q32.1 1 206491748A> T null R W 612 612 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782414342 1q32.1 1 206493024G> A null V M 613 613 missense 0.006 benign 0.11 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782592319 1q32.1 1 206493027G> A null V M 614 614 missense 0.819 possibly damaging 0.25 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs920936052 1q32.1 1 206493032C> G null H Q 615 615 missense 0.015 benign 0.31 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782180809 1q32.1 1 206493031A> G null H R 615 615 missense 0.007 benign 0.34 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553391021 1q32.1 1 206493035G> C null E D 616 616 missense 0.011 benign 0.29 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1164611253 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206493033G> A null E K 616 616 missense 0.012 benign 0.13 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs139503955 1q32.1 1 206493044C> A null N K 619 619 missense 0.007 benign 1.0 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782375968 1q32.1 1 206493047C> A null H Q 620 620 missense 0.019 benign 0.41 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782131571 1q32.1 1 206493045C> T null H Y 620 620 missense 0.697 possibly damaging 0.01 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs893379156 1q32.1 1 206493049T> C null L P 621 621 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367815847 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206493051C> T null R C 622 622 missense 0.031 benign 0.08 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs199747005 1q32.1 1 206493052G> A null R H 622 622 2.0E-4 missense 0.013 benign 0.31 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs199747005 1q32.1 1 206493052G> T null R L 622 622 2.0E-4 missense 0.313 benign 0.47 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs367815847 1q32.1 1 206493051C> A null R S 622 622 missense 0.313 benign 0.24 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553391043 1q32.1 1 206493069G> A null V M 628 628 missense 0.201 benign 0.06 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1206811963 1q32.1 1 206493075G> C null A P 630 630 missense 0.867 possibly damaging 0.02 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553391053 1q32.1 1 206493079G> A null C Y 631 631 missense 0.007 benign 0.3 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1484893033 1q32.1 1 206493100T> C null V A 638 638 missense 0.0 benign 0.47 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,gnomAD rs541558948 1q32.1 1 206493099G> T null V F 638 638 2.0E-4 missense 0.182 benign 0.06 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,gnomAD rs541558948 1q32.1 1 206493099G> A null V I 638 638 2.0E-4 missense 0.06 benign 0.48 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782547285 1q32.1 1 206493106A> G null E G 640 640 missense 0.16 benign 0.04 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553391067 1q32.1 1 206493105G> A null E K 640 640 missense 0.856 possibly damaging 0.06 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553391073 1q32.1 1 206493109G> A null S N 641 641 missense 0.007 benign 0.33 tolerated 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782657929 1q32.1 1 206493119G> C null K N 644 644 missense 0.691 possibly damaging 0.0 deleterious 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782431801 1q32.1 1 206493930C> T null A V 648 648 missense 0.143 benign 0.29 tolerated - low confidence 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782013955 1q32.1 1 206493933T> C null L P 649 649 missense 0.696 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782061054 1q32.1 1 206493935C> T null R * 650 650 stop gained 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782693817 1q32.1 1 206493936G> A null R Q 650 650 missense 0.0 benign 0.43 tolerated - low confidence 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1307447955 1q32.1 1 206493954G> T null G V 656 656 missense 0.221 benign 0.02 deleterious - low confidence 0 A0A075B7B4 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,TOPMed rs368797145 1q32.1 1 206493956A> T null I F 657 657 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1219502828 1q32.1 1 206205989T> C null F L 7 7 missense 0.302 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1399685727 1q32.1 1 206303289G> A null A T 26 26 missense 0.911 probably damaging 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1421959976 1q32.1 1 206303452G> A null S N 80 80 missense 0.691 possibly damaging 0.12 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1477330577 1q32.1 1 206303462C> G null D E 83 83 missense 0.871 possibly damaging 0.89 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782702975 1q32.1 1 206342848A> G null K R 88 88 missense 0.031 benign 0.06 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781804575 1q32.1 1 206342851A> T null D V 89 89 missense 0.469 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335637 1q32.1 1 206342850G> T null D Y 89 89 missense 0.731 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335644 1q32.1 1 206342862C> T null L F 93 93 missense 0.994 probably damaging 0.16 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782471815 1q32.1 1 206342868C> A null P T 95 95 missense 0.996 probably damaging 0.16 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782622630 1q32.1 1 206342871G> T null V F 96 96 missense 0.994 probably damaging 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335655 1q32.1 1 206342878G> A null C Y 98 98 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335661 1q32.1 1 206342883A> G null N D 100 100 missense 0.271 benign 0.18 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335662 1q32.1 1 206342884A> G null N S 100 100 missense 0.142 benign 0.52 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782326443 1q32.1 1 206342889C> T null L F 102 102 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782011141 1q32.1 1 206342898C> T null Q * 105 105 stop gained 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782283651 1q32.1 1 206342900G> C null Q H 105 105 missense 0.986 probably damaging 0.2 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335673 1q32.1 1 206342899A> T null Q L 105 105 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs782386564 1q32.1 1 206342902T> C null V A 106 106 missense 0.376 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782090583 1q32.1 1 206342908G> A null R Q 108 108 missense 0.979 probably damaging 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs201036189 1q32.1 1 206342907C> T null R W 108 108 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs782750384 1q32.1 1 206342914G> A null S N 110 110 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1166208646 1q32.1 1 206342917G> A null R K 111 111 missense 0.01 benign 0.29 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782069029 1q32.1 1 206342921C> A null D E 112 112 missense 0.978 probably damaging 0.34 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782069029 1q32.1 1 206342921C> G null D E 112 112 missense 0.978 probably damaging 0.34 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs781923753 1q32.1 1 206342919G> A null D N 112 112 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782788621 1q32.1 1 206342923A> G null H R 113 113 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335709 1q32.1 1 206342925A> G null T A 114 114 missense 0.0 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335714 1q32.1 1 206342929C> T null T I 115 115 missense 0.708 possibly damaging 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335714 1q32.1 1 206342929C> A null T N 115 115 missense 0.782 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1201360359 1q32.1 1 206342940A> G null I V 119 119 missense 0.025 benign 0.98 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335723 1q32.1 1 206342949A> G null N D 122 122 missense 0.981 probably damaging 0.05 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335727 1q32.1 1 206342953A> G null N S 123 123 missense 0.971 probably damaging 0.16 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed rs782729086 1q32.1 1 206342957C> G null I M 124 124 missense 0.295 benign 0.04 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335729 1q32.1 1 206342955A> G null I V 124 124 missense 0.001 benign 0.45 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 Ensembl rs1553335733 1q32.1 1 206342959T> G null I S 125 125 missense 0.636 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335737 1q32.1 1 206342961C> T null P S 126 126 missense 0.277 benign 0.78 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335737 1q32.1 1 206342961C> A null P T 126 126 missense 0.217 benign 0.62 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781839892 1q32.1 1 206342965G> A null R Q 127 127 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335749 1q32.1 1 206342970G> A null V I 129 129 missense 0.025 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs201481398 1q32.1 1 206342973C> G null Q E 130 130 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335755 1q32.1 1 206342974A> C null Q P 130 130 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782555352 1q32.1 1 206342979A> G null S G 132 132 missense 0.006 benign 0.36 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782618467 1q32.1 1 206342980G> A null S N 132 132 missense 0.451 possibly damaging 0.05 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335773 1q32.1 1 206342983A> G null E G 133 133 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782344135 1q32.1 1 206342982G> A null E K 133 133 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335777 1q32.1 1 206342985G> A null D N 134 134 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782622976 1q32.1 1 206342992G> A null G E 136 136 missense 0.624 possibly damaging 0.13 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782189075 1q32.1 1 206342995G> C null R T 137 137 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553335794 1q32.1 1 206342998T> C null L P 138 138 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782332038 1q32.1 1 206343000T> G null F V 139 139 missense 0.058 benign 0.86 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782023572 1q32.1 1 206343004A> G null K R 140 140 missense 0.981 probably damaging 0.15 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1482072730 1q32.1 1 206384023G> A null V I 145 145 missense 0.001 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs201168060 1q32.1 1 206384075C> T null S L 162 162 missense 0.019 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351015 1q32.1 1 206392694G> A null M I 164 164 missense 0.888 possibly damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351018 1q32.1 1 206392699C> T null T I 166 166 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351024 1q32.1 1 206392704C> G null H D 168 168 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782464108 1q32.1 1 206392709G> A null M I 169 169 missense 0.007 benign 0.1 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1284382870 1q32.1 1 206392708T> C null M T 169 169 missense 0.173 benign 0.27 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1210005357 1q32.1 1 206392711A> G null Y C 170 170 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351034 1q32.1 1 206392710T> C null Y H 170 170 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782654307 1q32.1 1 206392714A> G null N S 171 171 missense 0.971 probably damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782368243 1q32.1 1 206392719G> A null D N 173 173 missense 0.886 possibly damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782368243 1q32.1 1 206392719G> T null D Y 173 173 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351063 1q32.1 1 206392725A> G null I V 175 175 missense 0.148 benign 0.57 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351076 1q32.1 1 206392730T> G null S R 176 176 missense 0.221 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351080 1q32.1 1 206392731G> T null A S 177 177 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351086 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206392732C> T null A V 177 177 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351096 1q32.1 1 206392738G> A null S N 179 179 missense 0.685 possibly damaging 0.09 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351102 1q32.1 1 206392739C> G null S R 179 179 missense 0.881 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351118 1q32.1 1 206392749G> A null E K 183 183 missense 0.418 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782366468 1q32.1 1 206392752G> T null A S 184 184 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782366468 1q32.1 1 206392752G> A null A T 184 184 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782069444 1q32.1 1 206392753C> T null A V 184 184 missense 0.987 probably damaging 0.05 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351140 1q32.1 1 206392755G> A null E K 185 185 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1346263035 1q32.1 1 206392759A> G null K R 186 186 missense 0.059 benign 0.97 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351154 1q32.1 1 206392761C> T null Q * 187 187 stop gained 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351167 1q32.1 1 206392773C> G null Q E 191 191 missense 0.932 probably damaging 0.04 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351177 1q32.1 1 206392777T> C null I T 192 192 missense 0.073 benign 0.59 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782778984 1q32.1 1 206392780G> C null G A 193 193 missense 0.35 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782778984 1q32.1 1 206392780G> A null G D 193 193 missense 0.654 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781838989 1q32.1 1 206392785T> G null S A 195 195 missense 0.43 benign 0.14 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,NCI-TCGA,gnomAD rs782438952 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206392786C> T null S L 195 195 missense 0.55 possibly damaging 0.06 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781838989 1q32.1 1 206392785T> C null S P 195 195 missense 0.881 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781838989 1q32.1 1 206392785T> A null S T 195 195 missense 0.071 benign 0.11 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351200 1q32.1 1 206392792A> G null K R 197 197 missense 0.0 benign 0.63 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351207 1q32.1 1 206392794C> T null Q * 198 198 stop gained 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351217 1q32.1 1 206392796G> C null Q H 198 198 missense 0.001 benign 0.21 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351212 1q32.1 1 206392795A> G null Q R 198 198 missense 0.055 benign 0.55 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782635539 1q32.1 1 206392802C> A null D E 200 200 missense 0.0 benign 0.94 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782539800 1q32.1 1 206392801A> G null D G 200 200 missense 0.058 benign 0.41 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782460808 1q32.1 1 206392804G> C null R P 201 201 missense 0.332 benign 0.19 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782460808 1q32.1 1 206392804G> A null R Q 201 201 missense 0.082 benign 0.47 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782258026 1q32.1 1 206392803C> T null R W 201 201 missense 0.721 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs376951626 1q32.1 1 206392816G> A null R H 205 205 missense 0.927 probably damaging 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs376951626 1q32.1 1 206392816G> C null R P 205 205 missense 0.917 probably damaging 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351248 1q32.1 1 206392815C> A null R S 205 205 missense 0.7 possibly damaging 0.26 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1415749713 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206392819C> T null S F 206 206 missense 0.679 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1415749713 1q32.1 1 206392819C> A null S Y 206 206 missense 0.679 possibly damaging 0.04 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1179862112 1q32.1 1 206392821C> G null P A 207 207 missense 0.765 possibly damaging 0.38 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1472439998 1q32.1 1 206392822C> T null P L 207 207 missense 0.882 possibly damaging 0.05 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782371294 1q32.1 1 206392824G> A null D N 208 208 missense 0.82 possibly damaging 0.13 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351281 1q32.1 1 206392828C> G null S C 209 209 missense 0.726 possibly damaging 0.06 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351281 1q32.1 1 206392828C> T null S F 209 209 missense 0.571 possibly damaging 0.09 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351279 1q32.1 1 206392827T> C null S P 209 209 missense 0.349 benign 0.47 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs371626449 1q32.1 1 206392831C> T null T M 210 210 missense 0.082 benign 0.18 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351285 1q32.1 1 206392830A> T null T S 210 210 missense 0.0 benign 0.42 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351300 1q32.1 1 206392833G> A null A T 211 211 missense 0.003 benign 0.66 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781936837 1q32.1 1 206392834C> T null A V 211 211 missense 0.038 benign 0.62 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782148673 1q32.1 1 206392837A> G null N S 212 212 missense 0.003 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1213983094 1q32.1 1 206392840T> A null V D 213 213 missense 0.731 possibly damaging 0.11 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781846974 1q32.1 1 206392839G> A null V I 213 213 missense 0.003 benign 0.63 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,NCI-TCGA,gnomAD rs782125164 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206392842C> T null R C 214 214 missense 0.358 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782715276 1q32.1 1 206392843G> A null R H 214 214 missense 0.219 benign 0.05 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782715276 1q32.1 1 206392843G> T null R L 214 214 missense 0.034 benign 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782125164 1q32.1 1 206392842C> A null R S 214 214 missense 0.034 benign 0.11 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1363282299 1q32.1 1 206392846T> C null I T 215 215 missense 0.0 benign 0.41 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782444846 1q32.1 1 206392845A> G null I V 215 215 missense 0.005 benign 0.51 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351341 1q32.1 1 206392848G> A null E K 216 216 missense 0.201 benign 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351348 1q32.1 1 206392851G> T null E * 217 217 stop gained 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782647199 1q32.1 1 206392859T> G null H Q 219 219 missense 0.255 benign 0.3 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351353 1q32.1 1 206392857C> T null H Y 219 219 missense 0.198 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351364 1q32.1 1 206392860G> A null V I 220 220 missense 0.003 benign 0.41 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782343266 1q32.1 1 206392864G> A null R Q 221 221 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782259132 1q32.1 1 206392863C> T null R W 221 221 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351381 1q32.1 1 206392875G> A null V M 225 225 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351388 1q32.1 1 206392881A> G null K E 227 227 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1364612668 1q32.1 1 206392885T> C null I T 228 228 missense 0.978 probably damaging 0.06 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351399 1q32.1 1 206392891A> C null K T 230 230 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351410 1q32.1 1 206392893A> T null M L 231 231 missense 0.007 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351419 1q32.1 1 206392901G> C null E D 233 233 missense 0.534 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351417 1q32.1 1 206392900A> G null E G 233 233 missense 0.019 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782293627 1q32.1 1 206393545C> T null R C 235 235 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782293627 1q32.1 1 206393545C> G null R G 235 235 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ExAC,dbSNP,gnomAD rs2987927 1q32.1 1 206393546G> A null R H 235 235 5.99E-4 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782350562 1q32.1 1 206393552C> G null A G 237 237 missense 0.765 possibly damaging 0.14 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782203626 1q32.1 1 206393551G> A null A T 237 237 missense 0.82 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351884 1q32.1 1 206393555A> C null K T 238 238 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781927021 1q32.1 1 206393561C> T null T M 240 240 missense 0.96 probably damaging 0.3 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782784111 1q32.1 1 206393565G> T null E D 241 241 missense 0.971 probably damaging 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782120717 1q32.1 1 206393563G> A null E K 241 241 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781955395 1q32.1 1 206393568T> A null N K 242 242 missense 0.818 possibly damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351919 1q32.1 1 206393567A> G null N S 242 242 missense 0.588 possibly damaging 0.16 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351928 1q32.1 1 206393576A> G null K R 245 245 missense 0.011 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782097134 1q32.1 1 206393579C> A null A D 246 246 missense 0.696 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351931 1q32.1 1 206393578G> A null A T 246 246 missense 0.501 possibly damaging 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782097134 1q32.1 1 206393579C> T null A V 246 246 missense 0.499 possibly damaging 0.06 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs563589398 1q32.1 1 206393581A> G null I V 247 247 2.0E-4 missense 0.198 benign 0.2 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351962 1q32.1 1 206393584A> T null K * 248 248 stop gained 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351888 1q32.1 1 206393585_206393586insCGGAGAATAAGCTGAAGGCCATCA A null K N 248 248 stop gained 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553351967 1q32.1 1 206393585A> G null K R 248 248 missense 0.981 probably damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782760413 1q32.1 1 206393588C> A null A D 249 249 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782760413 1q32.1 1 206393588C> T null A V 249 249 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs2987928 1q32.1 1 206393591G> T null R L 250 250 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs2987928 1q32.1 1 206393591G> A null R Q 250 250 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs375845037 1q32.1 1 206393590C> T null R W 250 250 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782169537 1q32.1 1 206393595T> G null N K 251 251 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs370412816 1q32.1 1 206393597A> C null E A 252 252 missense 0.418 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782296427 1q32.1 1 206393604G> C null L F 254 254 missense 0.012 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553352011 1q32.1 1 206393608G> A null A T 256 256 missense 0.87 possibly damaging 0.9 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782218322 1q32.1 1 206393609C> T null A V 256 256 missense 0.87 possibly damaging 0.05 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782802875 1q32.1 1 206393623A> G null N D 261 261 missense 0.418 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781982309 1q32.1 1 206393624A> G null N S 261 261 missense 0.321 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs782132316 1q32.1 1 206393626G> A null A T 262 262 missense 0.14 benign 0.1 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782723862 1q32.1 1 206393627C> T null A V 262 262 missense 0.325 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782432421 1q32.1 1 206393630C> T null S F 263 263 missense 0.059 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782709336 1q32.1 1 206393637C> G null F L 265 265 missense 0.533 possibly damaging 0.65 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782709336 1q32.1 1 206393637C> A null F L 265 265 missense 0.533 possibly damaging 0.65 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553352065 1q32.1 1 206393636T> C null F S 265 265 missense 0.708 possibly damaging 0.58 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553352078 1q32.1 1 206393639A> G null K R 266 266 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ExAC,gnomAD rs545508387 1q32.1 1 206393643C> G null Y * 267 267 2.0E-4 stop gained 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782473647 1q32.1 1 206393651A> G null H R 270 270 missense 0.782 possibly damaging 0.21 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553352098 1q32.1 1 206393650C> T null H Y 270 270 missense 0.031 benign 0.11 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs782620359 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206393656C> A null L I 272 272 missense 0.978 probably damaging 0.45 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782184010 1q32.1 1 206393659T> G null S A 273 273 missense 0.953 probably damaging 0.29 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782403616 1q32.1 1 206393660C> G null S C 273 273 missense 0.993 probably damaging 0.09 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782184010 1q32.1 1 206393659T> C null S P 273 273 missense 0.986 probably damaging 0.2 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553352124 1q32.1 1 206393664C> A null D E 274 274 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553352119 1q32.1 1 206393662G> C null D H 274 274 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553352133 1q32.1 1 206393665C> T null L F 275 275 missense 0.624 possibly damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553352134 1q32.1 1 206393669T> C null I T 276 276 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355431 1q32.1 1 206401425G> A null C Y 278 278 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1370239487 1q32.1 1 206401428G> T null C F 279 279 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs201355871 1q32.1 1 206401455A> G null N S 288 288 missense 0.058 benign 0.37 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355471 1q32.1 1 206401458G> A null R Q 289 289 missense 0.986 probably damaging 0.42 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355465 1q32.1 1 206401457C> T null R W 289 289 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782402597 1q32.1 1 206401466C> T null R C 292 292 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355478 1q32.1 1 206401467G> A null R H 292 292 missense 0.95 probably damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1233379451 1q32.1 1 206401486G> T null E D 298 298 missense 0.98 probably damaging 0.05 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355520 1q32.1 1 206401496G> A null E K 302 302 missense 0.269 benign 0.06 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,dbSNP,gnomAD rs1350526469 1q32.1 1 206401509A> C null H P 306 306 missense 0.648 possibly damaging 0.14 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1350526469 1q32.1 1 206401509A> G null H R 306 306 missense 0.23 benign 0.38 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1277021661 1q32.1 1 206401512A> C null E A 307 307 missense 0.054 benign 0.18 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355541 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206401524C> T null A V 311 311 missense 0.124 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781810037 1q32.1 1 206401529G> A null E K 313 313 missense 0.988 probably damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782163917 1q32.1 1 206401536C> T null A V 315 315 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355561 1q32.1 1 206401539T> C null V A 316 316 missense 0.001 benign 0.04 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes rs553836934 1q32.1 1 206401543A> C null E D 317 317 2.0E-4 missense 0.971 probably damaging 0.7 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355573 1q32.1 1 206401556A> G null T A 322 322 missense 0.0 benign 0.53 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781874634 1q32.1 1 206401557C> T null T I 322 322 missense 0.0 benign 0.14 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355584 1q32.1 1 206401560G> A null S N 323 323 missense 0.116 benign 0.15 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1349903186 1q32.1 1 206401561T> G null S R 323 323 missense 0.387 benign 0.2 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355594 1q32.1 1 206401566A> G null K R 325 325 missense 0.987 probably damaging 0.35 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs573838817 1q32.1 1 206401571C> T null R C 327 327 2.0E-4 missense 0.809 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781783401 1q32.1 1 206401572G> A null R H 327 327 missense 0.759 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781783401 1q32.1 1 206401572G> C null R P 327 327 missense 0.712 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1173770892 1q32.1 1 206401585G> A null M I 331 331 missense 0.037 benign 0.17 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355636 1q32.1 1 206401590A> C null N T 333 333 missense 0.831 possibly damaging 0.26 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1413666951 1q32.1 1 206401593A> G null N S 334 334 missense 0.007 benign 0.55 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ExAC,gnomAD rs562297598 1q32.1 1 206401595G> A null V I 335 335 3.99E-4 missense 0.02 benign 0.1 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782510526 1q32.1 1 206401603C> A null C * 337 337 stop gained 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782657746 1q32.1 1 206401604C> T null P S 338 338 missense 0.919 probably damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782223290 1q32.1 1 206401607C> G null P A 339 339 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782223290 1q32.1 1 206401607C> A null P T 339 339 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782354562 1q32.1 1 206401610A> C null M L 340 340 missense 0.0 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782354562 1q32.1 1 206401610A> G null M V 340 340 missense 0.0 benign 0.22 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355691 1q32.1 1 206401615G> T null K N 341 341 missense 0.366 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782194944 1q32.1 1 206401629C> T null P L 346 346 missense 0.366 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781918979 1q32.1 1 206401628C> T null P S 346 346 missense 0.007 benign 0.21 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355712 1q32.1 1 206401631C> G null H D 347 347 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553355725 1q32.1 1 206401635T> A null M K 348 348 missense 0.948 probably damaging 0.43 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781980051 1q32.1 1 206401634A> T null M L 348 348 missense 0.743 possibly damaging 0.08 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781980051 1q32.1 1 206401634A> C null M L 348 348 missense 0.743 possibly damaging 0.08 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781980051 1q32.1 1 206401634A> G null M V 348 348 missense 0.879 possibly damaging 0.06 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs782730830 1q32.1 1 206401640G> A null D N 350 350 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1188031255 1q32.1 1 206401644T> G null M R 351 351 missense 0.069 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1188031255 1q32.1 1 206401644T> C null M T 351 351 missense 0.0 benign 0.1 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357041 1q32.1 1 206405284T> G null S R 363 363 missense 0.466 possibly damaging 0.45 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1408239465 1q32.1 1 206405289T> C null L P 365 365 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782736135 1q32.1 1 206405291G> C null V L 366 366 missense 0.003 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357047 1q32.1 1 206405298G> A null R K 368 368 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781891452 1q32.1 1 206406378T> G null V G 386 386 missense 0.187 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357201 1q32.1 1 206406390T> C null M T 390 390 missense 0.922 probably damaging 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357204 1q32.1 1 206406394G> T null E D 391 391 missense 0.131 benign 0.41 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357209 1q32.1 1 206406399C> A null T N 393 393 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357218 1q32.1 1 206406405A> T null Q L 395 395 missense 0.058 benign 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357228 1q32.1 1 206406407A> T null T S 396 396 missense 0.269 benign 0.45 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357252 1q32.1 1 206406420T> C null I T 400 400 missense 0.215 benign 0.04 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357247 1q32.1 1 206406419A> G null I V 400 400 missense 0.037 benign 0.4 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782566986 1q32.1 1 206406431G> T null E * 404 404 stop gained 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs782399145 1q32.1 1 206406432A> G null E G 404 404 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782566986 1q32.1 1 206406431G> A null E K 404 404 missense 0.988 probably damaging 0.2 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357314 1q32.1 1 206406434G> C null D H 405 405 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357320 1q32.1 1 206406435A> T null D V 405 405 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357324 1q32.1 1 206406437T> C null F L 406 406 missense 0.197 benign 0.53 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed rs782236953 1q32.1 1 206406440G> A null D N 407 407 missense 0.993 probably damaging 0.04 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs782392489 1q32.1 1 206406444T> C null V A 408 408 missense 0.699 possibly damaging 0.09 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357336 1q32.1 1 206406451C> G null D E 410 410 missense 0.015 benign 0.46 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1196209446 1q32.1 1 206406462A> G null Y C 414 414 missense 0.799 possibly damaging 0.09 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781959001 1q32.1 1 206406466C> G null S R 415 415 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782103311 1q32.1 1 206406475G> T null M I 418 418 missense 0.37 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357345 1q32.1 1 206406474T> C null M T 418 418 missense 0.042 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357349 1q32.1 1 206406476G> A null E K 419 419 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357350 1q32.1 1 206406477A> T null E V 419 419 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781938722 1q32.1 1 206406482G> A null V I 421 421 missense 0.981 probably damaging 0.13 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1301077778 1q32.1 1 206406491A> G null T A 424 424 missense 0.147 benign 0.23 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1392282287 1q32.1 1 206406492C> T null T M 424 424 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781867190 1q32.1 1 206406502A> T null E D 427 427 missense 0.98 probably damaging 0.89 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357377 1q32.1 1 206406503A> C null T P 428 428 missense 0.648 possibly damaging 0.41 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782077081 1q32.1 1 206406510T> C null M T 430 430 missense 0.141 benign 0.45 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357391 1q32.1 1 206406514C> G null S R 431 431 missense 0.991 probably damaging 0.55 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782737514 1q32.1 1 206406517G> T null K N 432 432 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357400 1q32.1 1 206406522G> A null S N 434 434 missense 0.059 benign 0.39 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357410 1q32.1 1 206406539G> C null A P 440 440 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781788932 1q32.1 1 206406540C> T null A V 440 440 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs782660255 1q32.1 1 206406547G> C null Q H 442 442 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782446751 1q32.1 1 206406546A> T null Q L 442 442 missense 0.969 probably damaging 0.09 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357442 1q32.1 1 206406560C> G null Q E 447 447 missense 0.473 possibly damaging 0.33 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357447 1q32.1 1 206406564T> C null F S 448 448 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782497975 1q32.1 1 206406566T> C null Y H 449 449 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553357461 1q32.1 1 206406573C> T null T I 451 451 missense 0.719 possibly damaging 0.04 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553361718 1q32.1 1 206415910G> A null G S 459 459 missense 0.999 probably damaging 0.12 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782305353 1q32.1 1 206415913A> G null R G 460 460 missense 0.476 possibly damaging 0.15 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782409756 1q32.1 1 206415932T> C null L S 466 466 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553361754 1q32.1 1 206415945T> A null H Q 470 470 missense 0.991 probably damaging 0.12 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553361763 1q32.1 1 206415956A> T null Q L 474 474 missense 0.152 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782197656 1q32.1 1 206419379G> A null R Q 482 482 missense 0.091 benign 0.12 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs577398952 1q32.1 1 206419378C> T null R W 482 482 2.0E-4 missense 0.802 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553363449 1q32.1 1 206419382C> T null T I 483 483 missense 0.991 probably damaging 0.2 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553363459 1q32.1 1 206419390A> C null S R 486 486 missense 0.147 benign 0.32 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553363465 1q32.1 1 206419391G> C null S T 486 486 missense 0.025 benign 0.51 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782234215 1q32.1 1 206419394T> C null L P 487 487 missense 0.997 probably damaging 0.42 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs368544055 1q32.1 1 206419393C> G null L V 487 487 missense 0.978 probably damaging 0.62 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782388736 1q32.1 1 206419396G> A null A T 488 488 missense 0.99 probably damaging 0.66 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782573262 1q32.1 1 206421250G> T null R S 489 489 missense 0.943 probably damaging 0.08 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs567791300 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206421251C> T null R C 490 490 2.0E-4 missense 0.988 probably damaging 0.04 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368897950 1q32.1 1 206421252G> A null R H 490 490 5.99E-4 missense 0.984 probably damaging 0.15 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782683623 1q32.1 1 206421254A> C null S R 491 491 missense 0.484 possibly damaging 0.34 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs371858865 1q32.1 1 206421261C> T null T I 493 493 missense 0.986 probably damaging 0.48 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs189377713 1q32.1 1 206421267G> A null R K 495 495 0.001797 missense 0.87 possibly damaging 0.08 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781954863 1q32.1 1 206421272C> G null Q E 497 497 missense 0.764 possibly damaging 0.11 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782257639 1q32.1 1 206430166C> A null S Y 499 499 missense 0.466 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1454702693 1q32.1 1 206430170C> A null S R 500 500 missense 0.086 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782339976 1q32.1 1 206430177A> G null I V 503 503 missense 0.927 probably damaging 0.37 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782712086 1q32.1 1 206430205G> A null R Q 512 512 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1401526821 1q32.1 1 206430204C> T null R W 512 512 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 Ensembl rs1035930285 1q32.1 1 206430209T> A null F L 513 513 missense 0.073 benign 0.05 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782173959 1q32.1 1 206430213A> G null S G 515 515 missense 0.532 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782763828 1q32.1 1 206430218A> C null R S 516 516 missense 0.844 possibly damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553367903 1q32.1 1 206430220A> G null H R 517 517 missense 0.844 possibly damaging 0.19 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,NCI-TCGA,gnomAD rs781984619 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206436971A> G null Q R 520 520 missense 0.003 benign 0.05 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782737142 1q32.1 1 206437001C> T null S F 530 530 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781971946 1q32.1 1 206437018G> C null D H 536 536 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs782063303 1q32.1 1 206437028A> T null N I 539 539 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ExAC,gnomAD rs568372662 1q32.1 1 206437031C> G null A G 540 540 2.0E-4 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 Ensembl rs969989213 1q32.1 1 206437037A> C null E A 542 542 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781991193 1q32.1 1 206437971C> A null D E 546 546 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553370633 1q32.1 1 206438003T> C null M T 557 557 missense 0.106 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782735756 1q32.1 1 206438002A> G null M V 557 557 missense 0.015 benign 0.09 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781788641 1q32.1 1 206438039G> A null R Q 569 569 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1480133661 1q32.1 1 206438038C> T null R W 569 569 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553370655 1q32.1 1 206438050C> T null H Y 573 573 missense 0.271 benign 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782064175 1q32.1 1 206438056C> T null L F 575 575 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781907042 1q32.1 1 206438059T> G null F V 576 576 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553370671 1q32.1 1 206438063C> T null P L 577 577 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1262843878 1q32.1 1 206438066A> G null K R 578 578 missense 0.028 benign 0.37 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 Ensembl rs1553370679 1q32.1 1 206438068G> A null D N 579 579 missense 0.297 benign 0.05 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782659466 1q32.1 1 206438078A> G null H R 582 582 missense 0.985 probably damaging 0.24 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs182729699 1q32.1 1 206438089G> A null A T 586 586 2.0E-4 missense 0.124 benign 0.24 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs782574861 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206438095G> A null V I 588 588 missense 0.981 probably damaging 0.62 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782202231 1q32.1 1 206438098A> G null T A 589 589 missense 0.015 benign 0.06 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782202231 1q32.1 1 206438098A> T null T S 589 589 missense 0.0 benign 0.32 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781794296 1q32.1 1 206439979T> C null M T 590 590 missense 0.152 benign 0.18 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1160339850 1q32.1 1 206439981G> A null D N 591 591 missense 0.366 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782452728 1q32.1 1 206439986C> A null N K 592 592 missense 0.055 benign 0.12 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1379951435 1q32.1 1 206439992G> C null Q H 594 594 missense 0.003 benign 0.26 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553371384 1q32.1 1 206439994A> C null E A 595 595 missense 0.52 possibly damaging 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553371374 1q32.1 1 206439993G> A null E K 595 595 missense 0.52 possibly damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1047081946 1q32.1 1 206440005C> T null H Y 599 599 missense 0.979 probably damaging 0.26 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs374718819 1q32.1 1 206440008A> G null I V 600 600 missense 0.0 benign 0.76 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372190101 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206440012G> A null R Q 601 601 2.0E-4 missense 0.246 benign 0.34 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369067812 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206440011C> T null R W 601 601 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs535889260 1q32.1 1 206440020C> G null L V 604 604 missense 0.66 possibly damaging 0.26 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1261883175 1q32.1 1 206440023C> G null L V 605 605 missense 0.344 benign 0.55 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs201888099 1q32.1 1 206440026G> T null V F 606 606 missense 0.017 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553371423 1q32.1 1 206440041A> G null T A 611 611 missense 0.343 benign 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782574545 1q32.1 1 206440049T> G null I M 613 613 missense 0.592 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782270172 1q32.1 1 206440050A> G null I V 614 614 missense 0.0 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782420502 1q32.1 1 206440055G> A null M I 615 615 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782267023 1q32.1 1 206440065T> C null F L 619 619 missense 0.048 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782345698 1q32.1 1 206440067T> A null F L 619 619 missense 0.048 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs781981581 1q32.1 1 206440069C> A null A D 620 620 missense 0.463 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553371464 1q32.1 1 206440078A> G null N S 623 623 missense 0.028 benign 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553373617 1q32.1 1 206446086T> C null F S 628 628 missense 0.279 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 Ensembl rs1558441803 1q32.1 1 206446088A> G null S G 629 629 missense 0.099 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553373621 1q32.1 1 206446100A> T null M L 633 633 missense 0.006 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553373623 1q32.1 1 206446109C> T null P S 636 636 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782600837 1q32.1 1 206446118C> G null L V 639 639 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553373639 1q32.1 1 206446121G> A null A T 640 640 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1173255909 1q32.1 1 206446124A> G null I V 641 641 missense 0.051 benign 0.92 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781939266 1q32.1 1 206446145A> T null M L 648 648 missense 0.658 possibly damaging 0.93 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 Ensembl rs868989180 1q32.1 1 206446161G> A null G D 653 653 missense 0.654 possibly damaging 0.41 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1252285246 1q32.1 1 206446163C> T null H Y 654 654 missense 0.342 benign 0.05 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781997381 1q32.1 1 206446166G> A null D N 655 655 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553373685 1q32.1 1 206446184G> C null A P 661 661 missense 0.509 possibly damaging 0.42 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs375969327 1q32.1 1 206446190G> A null V M 663 663 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1272778013 1q32.1 1 206446204C> G null I M 667 667 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1222539735 1q32.1 1 206446208A> G null T A 669 669 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1350654679 1q32.1 1 206446209C> T null T I 669 669 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781898242 1q32.1 1 206446216C> G null I M 671 671 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782774224 1q32.1 1 206446225T> G null H Q 674 674 missense 0.986 probably damaging 0.22 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782515280 1q32.1 1 206446224A> G null H R 674 674 missense 0.978 probably damaging 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377743666 1q32.1 1 206446226G> C null E Q 675 675 2.0E-4 missense 0.347 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782541490 1q32.1 1 206446258G> C null E D 685 685 missense 0.156 benign 0.5 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781816531 1q32.1 1 206446256G> A null E K 685 685 missense 0.115 benign 0.15 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs370656752 1q32.1 1 206446275G> A null R K 691 691 missense 0.055 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs370656752 1q32.1 1 206446275G> C null R T 691 691 missense 0.039 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 Ensembl rs1033712136 1q32.1 1 206446277G> A null G R 692 692 missense 0.625 possibly damaging 0.32 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1416306471 1q32.1 1 206446280G> A null G R 693 693 missense 0.999 probably damaging 0.16 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553373766 1q32.1 1 206446283A> C null S R 694 694 missense 0.025 benign 0.09 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs782337002 1q32.1 1 206446286A> T null M L 695 695 missense 0.003 benign 0.71 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553373782 1q32.1 1 206446290A> G null E G 696 696 missense 0.086 benign 0.21 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553373775 1q32.1 1 206446289G> A null E K 696 696 missense 0.086 benign 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782604038 1q32.1 1 206446292G> T null D Y 697 697 missense 0.731 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782181909 1q32.1 1 206446296A> G null Y C 698 698 missense 0.634 possibly damaging 0.1 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553375396 1q32.1 1 206450388A> G null D G 700 700 missense 0.078 benign 0.11 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782344684 1q32.1 1 206450393C> G null P A 702 702 missense 0.14 benign 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1433275965 1q32.1 1 206450396C> T null H Y 703 703 missense 0.146 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1189126103 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206450412C> T null S L 708 708 missense 0.0 benign 0.59 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1259163617 1q32.1 1 206450414G> A null V I 709 709 missense 0.012 benign 0.65 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782328281 1q32.1 1 206450417G> A null E K 710 710 missense 0.118 benign 0.08 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ExAC,gnomAD rs530268226 1q32.1 1 206450421A> G null D G 711 711 2.0E-4 missense 0.418 benign 0.12 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553375445 1q32.1 1 206450427C> T null T I 713 713 missense 0.006 benign 0.12 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782172330 1q32.1 1 206450430A> C null Q P 714 714 missense 0.0 benign 0.5 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553375453 1q32.1 1 206450435G> A null V M 716 716 missense 0.299 benign 0.14 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs374071443 1q32.1 1 206450439C> T null T I 717 717 missense 0.011 benign 0.15 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs374071443 1q32.1 1 206450439C> A null T N 717 717 missense 0.028 benign 0.37 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553375465 1q32.1 1 206450442C> G null A G 718 718 missense 0.037 benign 0.3 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201846020 1q32.1 1 206450441G> A null A T 718 718 0.001198 missense 0.001 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1251232149 1q32.1 1 206450451A> G null H R 721 721 missense 0.058 benign 0.3 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1000Genomes,ExAC,gnomAD rs117722554 1q32.1 1 206450454C> T null T M 722 722 2.0E-4 missense 0.003 benign 0.04 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553375485 1q32.1 1 206450457G> A null S N 723 723 missense 0.08 benign 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1553375494 1q32.1 1 206450461T> A null D E 724 724 missense 0.011 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs754921011 1q32.1 1 206450459G> A null D N 724 724 missense 0.359 benign 0.01 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553376715 1q32.1 1 206453214G> A null E K 731 731 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553376721 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206453217G> A null A T 732 732 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782553255 1q32.1 1 206453227A> T null K M 735 735 missense 0.785 possibly damaging 0.06 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553376727 1q32.1 1 206453229T> C null F L 736 736 missense 0.953 probably damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553376734 1q32.1 1 206453236A> G null Y C 738 738 missense 0.785 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,TOPMed,gnomAD rs368723990 1q32.1 1 206453238G> A null V M 739 739 missense 0.003 benign 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1166290927 1q32.1 1 206453241G> A null G S 740 740 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs373240789 1q32.1 1 206453245G> A null R Q 741 741 missense 0.011 benign 0.03 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC rs782518032 1q32.1 1 206453251C> T null A V 743 743 missense 0.154 benign 0.05 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553376777 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q32.1 1 206453253C> T null R * 744 744 stop gained 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782611082 1q32.1 1 206453254G> T null R L 744 744 missense 0.417 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782611082 1q32.1 1 206453254G> A null R Q 744 744 missense 0.441 benign 0.57 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed,gnomAD rs1466545625 1q32.1 1 206453269A> G null K R 749 749 missense 0.011 benign 0.12 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553376804 1q32.1 1 206453274G> T null G * 751 751 stop gained 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782015320 1q32.1 1 206453283C> G null L V 754 754 missense 0.321 benign 0.07 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 Ensembl rs534391977 1q32.1 1 206453287T> A null L Q 755 755 missense 0.848 possibly damaging 0.15 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782290329 1q32.1 1 206453299G> A null R Q 759 759 missense 0.011 benign 0.15 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782374407 1q32.1 1 206453302C> T null A V 760 760 missense 0.986 probably damaging 0.18 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs781996641 1q32.1 1 206453307G> A null D N 762 762 missense 0.23 benign 0.42 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553376838 1q32.1 1 206453310G> A null D N 763 763 missense 0.922 probably damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,gnomAD rs782363098 1q32.1 1 206453326G> A null R Q 768 768 missense 0.011 benign 0.08 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs781922187 1q32.1 1 206453331A> G null N D 770 770 missense 0.418 benign 0.19 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782068780 1q32.1 1 206453332A> G null N S 770 770 missense 0.257 benign 0.22 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 gnomAD rs1553376861 1q32.1 1 206453335G> A null G D 771 771 missense 0.039 benign 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1553376865 1q32.1 1 206453337A> G null I V 772 772 missense 0.0 benign 1.0 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs781908994 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206453340G> A null D N 773 773 missense 0.633 possibly damaging 0.17 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782799900 1q32.1 1 206453349A> G null I V 776 776 missense 0.001 benign 0.29 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 Ensembl rs900718580 1q32.1 1 206453353C> T null P L 777 777 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs769054196 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206453367G> A null V M 782 782 missense 0.039 benign 0.19 tolerated 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ESP,ExAC,TOPMed,gnomAD rs377297991 1q32.1 1 206453373C> G null Q E 784 784 missense 0.932 probably damaging 0.02 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1348741525 1q32.1 1 206453376G> A null D N 785 785 missense 0.619 possibly damaging 0.0 deleterious 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782551475 1q32.1 1 206453380C> A null T K 786 786 missense 0.005 benign 0.15 tolerated - low confidence 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782551475 1q32.1 1 206453380C> T null T M 786 786 missense 0.015 benign 0.05 deleterious - low confidence 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 TOPMed rs1322360944 1q32.1 1 206454150A> G null I M 788 788 missense 0.0 unknown 0 A0A075B7B5 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 ExAC,TOPMed,gnomAD rs782155240 1q32.1 1 206454155G> C null * S 790 790 stop lost 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs776862550 15q11.2 15 22185395T> G null H P 3 3 missense 0.003 benign 0.24 tolerated - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs776862550 15q11.2 15 22185395T> C null H R 3 3 missense 0.151 benign 0.35 tolerated - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1327151718 15q11.2 15 22185392A> G null L P 4 4 missense 0.062 benign 0.01 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs747261273 15q11.2 15 22185388C> T null W * 5 5 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs747261273 15q11.2 15 22185388C> G null W C 5 5 missense 0.014 benign 0.05 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs772363194 15q11.2 15 22185384A> C null F V 7 7 missense 0.018 benign 0.04 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1461818147 15q11.2 15 22185381G> A null L F 8 8 missense 0.038 benign 0.04 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) Ensembl rs1566854835 15q11.2 15 22185380A> C null L R 8 8 missense 0.871 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs755491714 15q11.2 15 22185378G> A null L F 9 9 missense 0.006 benign 1.0 tolerated - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs755491714 15q11.2 15 22185378G> T null L I 9 9 missense 0.175 benign 0.1 tolerated - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1191883087 15q11.2 15 22185374A> G null L P 10 10 missense 0.917 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs756775154 15q11.2 15 22185372C> T null V M 11 11 missense 0.226 benign 0.13 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs763768380 15q11.2 15 22185366C> G null A P 13 13 missense 0.882 possibly damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1468353487 15q11.2 15 22185365G> A null A V 13 13 missense 0.027 benign 0.06 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1198020585 15q11.2 15 22185362G> A null P L 14 14 missense 0.751 possibly damaging 0.06 tolerated - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs775790301 15q11.2 15 22185273C> T null W * 16 16 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs559188486 15q11.2 15 22185270A> T null V D 17 17 2.0E-4 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs770352633 15q11.2 15 22185271C> A null V F 17 17 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs770352633 15q11.2 15 22185271C> T null V I 17 17 missense 0.859 possibly damaging 0.1 tolerated - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs771478151 15q11.2 15 22185267A> G null L P 18 18 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs771478151 15q11.2 15 22185267A> C null L R 18 18 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs778678611 15q11.2 15 22185264G> C null S C 19 19 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs778678611 15q11.2 15 22185264G> A null S F 19 19 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs747866468 15q11.2 15 22185265A> G null S P 19 19 missense 0.368 benign 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs779658091 15q11.2 15 22185258A> C null V G 21 21 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs749119093 15q11.2 15 22185259C> G null V L 21 21 missense 0.015 benign 0.16 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs749119093 15q11.2 15 22185259C> T null V M 21 21 missense 0.376 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) TOPMed,gnomAD rs901617729 15q11.2 15 22185250G> A null Q * 24 24 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1429495891 15q11.2 15 22185245C> A null E D 25 25 missense 0.108 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs537588984 15q11.2 15 22185247C> T null E K 25 25 7.99E-4 missense 0.473 possibly damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs576463999 15q11.2 15 22185243G> T null S * 26 26 2.0E-4 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs576463999 15q11.2 15 22185243G> A null S L 26 26 2.0E-4 missense 0.916 probably damaging 0.03 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs576463999 15q11.2 15 22185243G> C null S W 26 26 2.0E-4 missense 0.259 benign 0.07 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC rs763110936 15q11.2 15 22185235C> T null G R 29 29 missense 0.981 probably damaging 0.02 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs555008585 15q11.2 15 22185231A> G null L P 30 30 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs555008585 15q11.2 15 22185231A> C null L R 30 30 2.0E-4 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs776990767 15q11.2 15 22185229C> T null V M 31 31 missense 0.971 probably damaging 0.02 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs747692805 15q11.2 15 22185223G> C null P A 33 33 missense 0.164 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs773950062 15q11.2 15 22185222G> A null P L 33 33 missense 0.438 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs748884810 15q11.2 15 22185219G> A null S L 34 34 missense 0.116 benign 0.04 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs768437741 15q11.2 15 22185220A> G null S P 34 34 missense 0.867 possibly damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC rs757142723 15q11.2 15 22185215C> G null E D 35 35 missense 0.021 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs201318253 15q11.2 15 22185216T> C null E G 35 35 missense 0.708 possibly damaging 0.02 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs566035681 15q11.2 15 22185217C> T null E K 35 35 7.99E-4 missense 0.134 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs566035681 15q11.2 15 22185217C> G null E Q 35 35 7.99E-4 missense 0.038 benign 1.0 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs751658078 15q11.2 15 22185211G> T null L M 37 37 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC rs764100099 15q11.2 15 22185210A> G null L P 37 37 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs752857286 15q11.2 15 22185208A> G null S P 38 38 missense 0.123 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1283217678 15q11.2 15 22185204A> T null L H 39 39 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs777014470 15q11.2 15 22185201G> A null T I 40 40 missense 0.135 benign 0.02 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs777014470 15q11.2 15 22185201G> T null T N 40 40 missense 0.149 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs777014470 15q11.2 15 22185201G> C null T S 40 40 missense 0.025 benign 0.06 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs774004633 15q11.2 15 22185197G> T null C * 41 41 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs761207256 15q11.2 15 22185198C> G null C S 41 41 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs75509601 15q11.2 15 22185195A> G null V A 42 42 missense 0.0 benign 0.74 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs768280233 15q11.2 15 22185196C> T null V I 42 42 missense 0.009 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs774987625 15q11.2 15 22185193C> A null V F 43 43 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1463407486 15q11.2 15 22185189G> A null S F 44 44 missense 0.191 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1316712053 15q11.2 15 22185190A> T null S T 44 44 missense 0.022 benign 0.23 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs745677634 15q11.2 15 22185187C> T null G S 45 45 missense 0.971 probably damaging 0.02 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs746878830 15q11.2 15 22185183C> G null G A 46 46 missense 0.017 benign 0.47 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs780987553 15q11.2 15 22185184C> A null G C 46 46 missense 0.901 possibly damaging 0.15 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs746878830 15q11.2 15 22185183C> T null G D 46 46 missense 0.051 benign 0.24 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1206581375 15q11.2 15 22185177A> T null I N 48 48 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1241507524 15q11.2 15 22185178T> C null I V 48 48 missense 0.005 benign 0.23 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs753011297 15q11.2 15 22185174C> A null S I 49 49 missense 0.134 benign 0.01 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs778971852 15q11.2 15 22185173G> T null S R 49 49 missense 0.052 benign 0.01 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs755178511 15q11.2 15 22185172T> C null S G 50 50 missense 0.006 benign 0.09 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs754168431 15q11.2 15 22185171C> A null S I 50 50 missense 0.688 possibly damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs754168431 15q11.2 15 22185171C> G null S T 50 50 missense 0.005 benign 0.46 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs761333752 15q11.2 15 22185169T> A null S C 51 51 missense 0.466 possibly damaging 0.1 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs761333752 15q11.2 15 22185169T> C null S G 51 51 missense 0.0 benign 0.54 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs750955005 15q11.2 15 22185168C> T null S N 51 51 missense 0.056 benign 0.15 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs750955005 15q11.2 15 22185168C> G null S T 51 51 missense 0.0 benign 0.19 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs775029977 15q11.2 15 22185164G> C null N K 52 52 missense 0.106 benign 0.28 tolerated - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs769350451 15q11.2 15 22185163A> G null W R 53 53 missense 0.144 benign 0.03 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs759167976 15q11.2 15 22185162C> G null W S 53 53 missense 0.003 benign 0.06 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs776412117 15q11.2 15 22185159C> T null W * 54 54 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs770706929 15q11.2 15 22185158C> T null W * 54 54 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs770706929 15q11.2 15 22185158C> G null W C 54 54 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs747005088 15q11.2 15 22185156C> A null S I 55 55 missense 0.82 possibly damaging 0.02 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs747005088 15q11.2 15 22185156C> G null S T 55 55 missense 0.036 benign 0.16 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs534589559 15q11.2 15 22185152C> T null W * 56 56 3.99E-4 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1389443880 15q11.2 15 22185153C> T null W * 56 56 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs534589559 15q11.2 15 22185152C> G null W C 56 56 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs772233128 15q11.2 15 22185154A> T null W R 56 56 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs772233128 15q11.2 15 22185154A> G null W R 56 56 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1389443880 15q11.2 15 22185153C> G null W S 56 56 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs754088324 15q11.2 15 22185150A> G null V A 57 57 missense 0.161 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs570353285 15q11.2 15 22185151C> T null V I 57 57 3.99E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs28399672 15q11.2 15 22185148G> A null R C 58 58 0.01238 missense 0.65 possibly damaging 0.04 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs28399672 15q11.2 15 22185148G> C null R G 58 58 0.01238 missense 0.549 possibly damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs768174031 15q11.2 15 22185147C> T null R H 58 58 missense 0.976 probably damaging 0.02 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs768174031 15q11.2 15 22185147C> A null R L 58 58 missense 0.912 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs377032678 15q11.2 15 22185144T> C null Q R 59 59 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs112368314 15q11.2 15 22185142G> C null P A 60 60 missense 0.015 benign 0.23 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1237094020 15q11.2 15 22185141G> T null P H 60 60 missense 0.104 benign 0.03 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs112368314 15q11.2 15 22185142G> A null P S 60 60 missense 0.051 benign 0.15 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs112368314 15q11.2 15 22185142G> T null P T 60 60 missense 0.194 benign 0.03 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs760430911 15q11.2 15 22185138G> T null P Q 61 61 missense 0.988 probably damaging 0.04 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs770760461 15q11.2 15 22185139G> A null P S 61 61 missense 0.938 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs772951452 15q11.2 15 22185136C> T null G R 62 62 missense 0.78 possibly damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1298998905 15q11.2 15 22185135C> A null G V 62 62 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs774363216 15q11.2 15 22185132T> A null K M 63 63 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1175632133 15q11.2 15 22185131C> A null K N 63 63 missense 0.974 probably damaging 0.04 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs774363216 15q11.2 15 22185132T> C null K R 63 63 missense 0.158 benign 0.05 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs749572853 15q11.2 15 22185129C> T null G E 64 64 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs749572853 15q11.2 15 22185129C> A null G V 64 64 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs746262234 15q11.2 15 22185126A> G null L P 65 65 missense 0.957 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1252205652 15q11.2 15 22185124C> T null E K 66 66 missense 0.959 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1248900531 15q11.2 15 22185120C> T null W * 67 67 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1196407683 15q11.2 15 22185119C> G null W C 67 67 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1480124507 15q11.2 15 22185121A> G null W R 67 67 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1212423324 15q11.2 15 22185118T> A null I F 68 68 missense 0.883 possibly damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs757705859 15q11.2 15 22185117A> G null I T 68 68 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1231491353 15q11.2 15 22185114C> G null G A 69 69 missense 0.897 possibly damaging 0.09 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs752099568 15q11.2 15 22185115C> T null G R 69 69 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs764710318 15q11.2 15 22185112C> A null E * 70 70 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs754487099 15q11.2 15 22185110T> G null E D 70 70 missense 0.106 benign 0.21 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs764710318 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q11.2 15 22185112C> T null E K 70 70 missense 0.041 benign 0.3 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs753527512 15q11.2 15 22185109T> C null I V 71 71 missense 0.043 benign 0.12 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs767341993 15q11.2 15 22185105T> C null Y C 72 72 missense 0.951 probably damaging 0.2 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs767341993 15q11.2 15 22185105T> A null Y F 72 72 missense 0.033 benign 0.41 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs772996448 15q11.2 15 22185106A> G null Y H 72 72 missense 0.103 benign 0.38 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1375986310 15q11.2 15 22185102T> C null H R 73 73 missense 0.005 benign 0.15 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1464504242 15q11.2 15 22185099C> T null S N 74 74 missense 0.007 benign 0.23 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1464504242 15q11.2 15 22185099C> G null S T 74 74 missense 0.011 benign 0.16 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1472029290 15q11.2 15 22185094T> C null S G 76 76 missense 0.034 benign 0.13 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs749413483 15q11.2 15 22185093C> T null S N 76 76 missense 0.026 benign 0.24 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs775667266 15q11.2 15 22185092G> C null S R 76 76 missense 0.11 benign 0.11 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs749413483 15q11.2 15 22185093C> G null S T 76 76 missense 0.019 benign 0.08 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs72687775 15q11.2 15 22185091G> A null P S 77 77 missense 0.007 benign 0.04 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs72687775 15q11.2 15 22185091G> T null P T 77 77 missense 0.0 benign 1.0 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs747517022 15q11.2 15 22185087T> C null N S 78 78 missense 0.005 benign 0.4 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs757626332 15q11.2 15 22185088T> A null N Y 78 78 missense 0.019 benign 1.0 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1261610158 15q11.2 15 22185085A> C null Y D 79 79 missense 0.205 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs778310400 15q11.2 15 22185081T> C null N S 80 80 missense 0.143 benign 0.42 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs758861324 15q11.2 15 22185078G> A null P L 81 81 missense 0.908 possibly damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1327324389 15q11.2 15 22185079G> T null P T 81 81 missense 0.181 benign 0.02 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1332310849 15q11.2 15 22185073G> A null L F 83 83 missense 0.248 benign 0.19 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1387066889 15q11.2 15 22185070T> G null K Q 84 84 missense 0.022 benign 0.34 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs767262976 15q11.2 15 22185069T> C null K R 84 84 missense 0.019 benign 0.03 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1456574838 15q11.2 15 22185067T> A null S C 85 85 missense 0.122 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs761635334 15q11.2 15 22185066C> T null S N 85 85 missense 0.019 benign 0.06 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs773974769 15q11.2 15 22185064G> A null R * 86 86 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs764110823 15q11.2 15 22185063C> T null R Q 86 86 missense 0.815 possibly damaging 0.03 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs769994033 15q11.2 15 22185053T> C null I M 89 89 missense 0.188 benign 0.1 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs775720534 15q11.2 15 22185054A> G null I T 89 89 missense 0.693 possibly damaging 0.04 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1181481620 15q11.2 15 22185051G> A null S L 90 90 missense 0.11 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs771241283 15q11.2 15 22185048A> G null V A 91 91 missense 0.005 benign 0.64 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1275257906 15q11.2 15 22185045T> A null D V 92 92 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs747432639 15q11.2 15 22185043T> C null K E 93 93 missense 0.093 benign 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs777951558 15q11.2 15 22185042T> C null K R 93 93 missense 0.005 benign 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs777951558 15q11.2 15 22185042T> G null K T 93 93 missense 0.0 benign 1.0 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1282443686 15q11.2 15 22185040A> C null S A 94 94 missense 0.091 benign 0.11 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs367816201 15q11.2 15 22185039G> A null S F 94 94 2.0E-4 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs748648894 15q11.2 15 22185035C> G null K N 95 95 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs200734660 15q11.2 15 22185027A> G null F S 98 98 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs780926080 15q11.2 15 22185021A> G null L P 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs756807084 15q11.2 15 22185017C> G null K N 101 101 missense 0.029 benign 0.05 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1160936297 15q11.2 15 22185018T> G null K T 101 101 missense 0.664 possibly damaging 0.06 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC rs751379824 15q11.2 15 22185013T> C null S G 103 103 missense 0.075 benign 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs763054501 15q11.2 15 22185007C> G null V L 105 105 missense 0.062 benign 0.35 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs763054501 15q11.2 15 22185007C> T null V M 105 105 missense 0.72 possibly damaging 0.1 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs752671032 15q11.2 15 22185004T> G null T P 106 106 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1194667813 15q11.2 15 22185000G> T null A D 107 107 missense 0.789 possibly damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs548232834 15q11.2 15 22185001C> T null A T 107 107 3.99E-4 missense 0.069 benign 0.83 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs771208685 15q11.2 15 22184998C> T null A T 108 108 missense 0.183 benign 0.05 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs760750447 15q11.2 15 22184997G> A null A V 108 108 missense 0.054 benign 0.03 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs772411339 15q11.2 15 22184993G> T null D E 109 109 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1227519278 15q11.2 15 22184992T> C null R G 110 110 missense 0.001 benign 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs586350 15q11.2 15 22184991C> A null R M 110 110 0.1014 missense 0.0 benign 0.04 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs586350 15q11.2 15 22184991C> G null R T 110 110 0.1014 missense 0.0 benign 1.0 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs745402875 15q11.2 15 22184988G> A null A V 111 111 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs756934630 15q11.2 15 22184986C> A null V L 112 112 missense 0.034 benign 0.07 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs756934630 15q11.2 15 22184986C> T null V M 112 112 missense 0.456 possibly damaging 0.27 tolerated 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1425257010 15q11.2 15 22184982du p null Y * 113 113 stop gained 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1167421582 15q11.2 15 22184982T> C null Y C 113 113 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1396528872 15q11.2 15 22184983A> G null Y H 113 113 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs559376974 15q11.2 15 22184979T> C null Y C 114 114 0.01138 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs559376974 15q11.2 15 22184979T> A null Y F 114 114 0.01138 missense 0.64 possibly damaging 0.03 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1397497960 15q11.2 15 22184977A> G null C R 115 115 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) gnomAD rs1174655011 15q11.2 15 22184975A> C null C W 115 115 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs765298558 15q11.2 15 22184973G> T null A E 116 116 missense 0.305 benign 0.0 deleterious 0 A0A075B7B6 IGHV4OR15-8 Immunoglobulin heavy variable 4/OR15-8 (non-functional) (Fragment) ExAC,gnomAD rs765298558 15q11.2 15 22184973G> A null A V 116 116 missense 0.095 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1376914298 17q12 17 35752840G> A null P L 4 4 missense 0.029 benign 0.54 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782236625 17q12 17 35752841G> T null P T 4 4 missense 0.454 possibly damaging 0.35 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs139864694 17q12 17 35752837G> T null A E 5 5 2.0E-4 missense 0.005 benign 1.0 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599985 17q12 17 35752838C> T null A T 5 5 missense 0.062 benign 0.58 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs139864694 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35752837G> A null A V 5 5 2.0E-4 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC rs587736884 17q12 17 35752828C> T null R K 8 8 2.0E-4 missense 0.018 benign 0.7 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs766204717 17q12 17 35752829T> A null R W 8 8 missense 0.069 benign 0.03 deleterious - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs996362269 17q12 17 35752820G> A null P S 11 11 missense 0.042 benign 0.24 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781844667 17q12 17 35752814T> C null T A 13 13 missense 0.041 benign 0.18 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782783450 17q12 17 35752813G> A null T I 13 13 missense 0.662 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782783450 17q12 17 35752813G> T null T N 13 13 missense 0.093 benign 0.06 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370173315 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35752811G> T null L I 14 14 missense 0.509 possibly damaging 0.36 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs549013003 17q12 17 35752807C> T null G E 15 15 missense 0.025 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs149878042 17q12 17 35752804G> A null P L 16 16 missense 0.216 benign 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs149878042 17q12 17 35752804G> C null P R 16 16 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs367819705 17q12 17 35752805G> A null P S 16 16 missense 0.31 benign 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs367819705 17q12 17 35752805G> T null P T 16 16 missense 0.831 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782097842 17q12 17 35752802G> A null P S 17 17 missense 0.426 benign 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782272553 17q12 17 35752799C> T null V M 18 18 missense 0.386 benign 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782031153 17q12 17 35752793T> C null S G 20 20 missense 0.398 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs772529656 17q12 17 35752786C> T null R Q 22 22 missense 0.538 possibly damaging 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1266412002 17q12 17 35752787G> A null R W 22 22 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs371173822 17q12 17 35752781A> G null F L 24 24 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599975 17q12 17 35752778T> C null K E 25 25 missense 0.933 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1555599973 17q12 17 35752777T> C null K R 25 25 missense 0.422 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782266231 17q12 17 35752774G> T null S * 26 26 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,gnomAD rs782266231 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35752774G> A null S L 26 26 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782564447 17q12 17 35752772T> C null S G 27 27 missense 0.104 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs112251612 17q12 17 35752768T> C null E G 28 28 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs782280819 17q12 17 35752759A> C null L R 31 31 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1189467327 17q12 17 35752757C> T null E K 32 32 missense 1.0 probably damaging 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599958 17q12 17 35752753G> A null A V 33 33 missense 0.398 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599957 17q12 17 35752750A> G null M T 34 34 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781837401 17q12 17 35752744T> C null E G 36 36 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200874463 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35752745C> T null E K 36 36 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587635211 17q12 17 35752731C> G null E D 40 40 2.0E-4 missense 0.386 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782798675 17q12 17 35752730A> G null W R 41 41 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl,NCI-TCGA rs769306206 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35752724G> A null R C 43 43 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373208717 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35752723C> T null R H 43 43 missense 0.168 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587609108 17q12 17 35752721C> T null D N 44 44 2.0E-4 missense 0.169 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782124886 17q12 17 35752714T> C null Y C 46 46 missense 0.696 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150738875 17q12 17 35752711C> T null G E 47 47 2.0E-4 missense 0.86 possibly damaging 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782333719 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35752698G> T null D E 51 51 missense 0.814 possibly damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs141214936 17q12 17 35752700C> T null D N 51 51 missense 0.111 benign 0.28 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs141214936 17q12 17 35752700C> A null D Y 51 51 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs148236837 17q12 17 35752697C> A null A S 52 52 missense 0.033 benign 0.17 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs148236837 17q12 17 35752697C> T null A T 52 52 missense 0.033 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782614849 17q12 17 35752696G> A null A V 52 52 missense 0.027 benign 0.55 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782504367 17q12 17 35752682G> T null Q K 57 57 missense 0.386 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,gnomAD rs377575764 17q12 17 35752679C> T null V M 58 58 missense 0.273 benign 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781870105 17q12 17 35752669G> A null T M 61 61 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599939 17q12 17 35752667C> G null G R 62 62 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782650143 17q12 17 35752657A> G null L P 65 65 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1264743143 17q12 17 35752649G> T null H N 68 68 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146002583 17q12 17 35752647G> C null H Q 68 68 0.001198 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599937 17q12 17 35752646C> T null A T 69 69 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782106330 17q12 17 35752642T> C null N S 70 70 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78557458 17q12 17 35752640C> A null V F 71 71 0.002196 missense 0.209 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78557458 17q12 17 35752640C> T null V I 71 71 0.002196 missense 0.041 benign 0.48 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1403040056 17q12 17 35752637C> T null V I 72 72 missense 0.071 benign 0.6 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782308715 17q12 17 35752628C> T null A T 75 75 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1355586387 17q12 17 35752625C> T null A T 76 76 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599928 17q12 17 35752610C> T null A T 81 81 missense 0.652 possibly damaging 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs868976987 17q12 17 35752607C> T null E K 82 82 missense 0.149 benign 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599927 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35752601G> A null P S 84 84 missense 0.873 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599926 17q12 17 35752597G> A null A V 85 85 missense 0.046 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599921 17q12 17 35752593T> G null Q H 86 86 missense 0.601 possibly damaging 0.18 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1432218912 17q12 17 35752591G> T null A D 87 87 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1432218912 17q12 17 35752591G> C null A G 87 87 missense 0.942 probably damaging 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599918 17q12 17 35752586T> G null K Q 89 89 missense 0.211 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1306539009 17q12 17 35752577T> A null M L 92 92 missense 0.007 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599915 17q12 17 35752573G> A null P L 93 93 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs373031135 17q12 17 35752571G> C null R G 94 94 missense 0.822 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs369941287 17q12 17 35752570C> T null R Q 94 94 missense 0.063 benign 0.41 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs373031135 17q12 17 35752571G> A null R W 94 94 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782003464 17q12 17 35752568C> T null V I 95 95 missense 0.098 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782574048 17q12 17 35752565C> T null G R 96 96 missense 0.855 possibly damaging 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782574048 17q12 17 35752565C> A null G W 96 96 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782442398 17q12 17 35752562C> T null V I 97 97 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782442398 17q12 17 35752562C> G null V L 97 97 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1342756079 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35752558G> A null S F 98 98 missense 0.03 benign 0.33 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782231293 17q12 17 35752555C> T null C Y 99 99 missense 0.386 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs921617765 17q12 17 35752549C> G null G A 101 101 missense 0.104 benign 0.27 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599908 17q12 17 35752544C> T null A T 103 103 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599907 17q12 17 35752539C> A null Q H 104 104 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781977154 17q12 17 35752534C> G null G A 106 106 missense 0.953 probably damaging 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781977154 17q12 17 35752534C> A null G V 106 106 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs782733970 17q12 17 35752522G> T null A D 110 110 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed rs142617075 17q12 17 35752523C> T null A T 110 110 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1471626146 17q12 17 35752517C> T null D N 112 112 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,gnomAD rs782437745 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35752513T> C null N S 113 113 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1451871655 17q12 17 35752505T> C null N D 116 116 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599901 17q12 17 35752502A> C null F V 117 117 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs201797745 17q12 17 35752498A> T null I N 118 118 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587774685 17q12 17 35752489C> T null C Y 121 121 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599899 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q12 17 35752487G> A null R * 122 122 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs781984212 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35752486C> T null R Q 122 122 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782777046 17q12 17 35752478T> C null M V 125 125 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599623 17q12 17 35750315A> G null V A 130 130 missense 0.96 probably damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782724015 17q12 17 35750316C> G null V L 130 130 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599620 17q12 17 35750308C> T null M I 132 132 missense 0.959 probably damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599621 17q12 17 35750309A> G null M T 132 132 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599616 17q12 17 35750303T> G null E A 134 134 missense 0.841 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599618 17q12 17 35750304C> G null E Q 134 134 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1457207792 17q12 17 35750300G> A null T M 135 135 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599615 17q12 17 35750292A> C null L V 138 138 missense 0.928 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599613 17q12 17 35750283G> A null R C 141 141 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs782021843 17q12 17 35750282C> A null R L 141 141 missense 0.229 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599612 17q12 17 35750275G> C null N K 143 143 missense 0.455 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs782327875 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35750274C> A null V L 144 144 missense 0.592 possibly damaging 0.21 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782327875 17q12 17 35750274C> T null V M 144 144 missense 0.957 probably damaging 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782622658 17q12 17 35750264A> G null V A 147 147 missense 0.175 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1384200917 17q12 17 35750265C> T null V M 147 147 missense 0.942 probably damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599605 17q12 17 35750258A> G null L P 149 149 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1313548474 17q12 17 35750255C> T null C Y 150 150 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782255126 17q12 17 35750249A> G null L P 152 152 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1568104875 17q12 17 35750246T> C null E G 153 153 missense 0.85 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599602 17q12 17 35750244G> T null L M 154 154 missense 0.957 probably damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781784497 17q12 17 35750238G> C null R G 156 156 missense 0.85 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599598 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35750237C> T null R H 156 156 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781784497 17q12 17 35750238G> T null R S 156 156 missense 0.341 benign 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587614866 17q12 17 35750234C> A null R L 157 157 2.0E-4 missense 0.696 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,NCI-TCGA,gnomAD rs587614866 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35750234C> T null R Q 157 157 2.0E-4 missense 0.257 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782579678 17q12 17 35750235G> A null R W 157 157 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782774536 17q12 17 35750231G> T null A E 158 158 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599595 17q12 17 35750226G> A null R C 160 160 missense 0.312 benign 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1195319096 17q12 17 35750223A> C null F V 161 161 missense 0.338 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599593 17q12 17 35750217C> A null V F 163 163 missense 0.165 benign 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11654604 17q12 17 35750213G> A null A V 164 164 0.1434 missense 0.07 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1568104784 17q12 17 35750208G> C null P A 166 166 missense 0.926 probably damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1462709366 17q12 17 35750205T> C null T A 167 167 missense 0.068 benign 0.3 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599590 17q12 17 35750201A> G null L P 168 168 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782363014 17q12 17 35750199C> G null V L 169 169 missense 0.799 possibly damaging 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782363014 17q12 17 35750199C> A null V L 169 169 missense 0.799 possibly damaging 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782363014 17q12 17 35750199C> T null V M 169 169 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1193584123 17q12 17 35750196G> A null Q * 170 170 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs370902804 17q12 17 35750194C> G null Q H 170 170 missense 0.007 benign 0.28 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed rs782120985 17q12 17 35750195T> C null Q R 170 170 missense 0.007 benign 0.26 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599585 17q12 17 35750193G> C null L V 171 171 missense 0.341 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782400705 17q12 17 35750188C> A null E D 172 172 missense 0.887 possibly damaging 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782288102 17q12 17 35750187C> G null E Q 173 173 missense 0.455 possibly damaging 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782559864 17q12 17 35750183T> G null E A 174 174 missense 0.847 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,TOPMed,gnomAD rs377685306 17q12 17 35750182C> G null E D 174 174 missense 0.324 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1470661882 17q12 17 35750184C> T null E K 174 174 missense 0.847 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs930706750 17q12 17 35750181T> G null I L 175 175 missense 0.105 benign 0.05 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782318614 17q12 17 35750179G> C null I M 175 175 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs919356489 17q12 17 35750180A> C null I S 175 175 missense 0.974 probably damaging 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs919356489 17q12 17 35750180A> G null I T 175 175 missense 0.951 probably damaging 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599580 17q12 17 35750178C> T null E K 176 176 missense 0.296 benign 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782209400 17q12 17 35750175C> T null E K 177 177 missense 0.47 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782525112 17q12 17 35750165C> G null R P 180 180 missense 0.061 benign 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782525112 17q12 17 35750165C> T null R Q 180 180 missense 0.065 benign 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1284150717 17q12 17 35750162C> T null R Q 181 181 missense 0.006 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1555599570 17q12 17 35750159T> C null E G 182 182 missense 0.85 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781892521 17q12 17 35750160C> T null E K 182 182 missense 0.85 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781892521 17q12 17 35750160C> G null E Q 182 182 missense 0.488 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC rs782576743 17q12 17 35750106G> T null P T 184 184 missense 0.051 benign 0.36 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782649031 17q12 17 35750101G> T null C * 185 185 missense 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782230260 17q12 17 35750103A> C null C G 185 185 missense 0.03 benign 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599543 17q12 17 35750099T> C null H R 186 186 missense 0.07 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1348334780 17q12 17 35750097A> G null F L 187 187 missense 0.044 benign 0.05 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs782524428 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35750094G> A null R C 188 188 missense 0.03 benign 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs376528605 17q12 17 35750093C> T null R H 188 188 missense 0.007 benign 0.31 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs376528605 17q12 17 35750093C> G null R P 188 188 missense 0.03 benign 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782805661 17q12 17 35750087A> G null L P 190 190 missense 0.137 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1490723058 17q12 17 35750083G> C null D E 191 191 missense 0.647 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1490723058 17q12 17 35750083G> T null D E 191 191 missense 0.647 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782429430 17q12 17 35750085C> T null D N 191 191 missense 0.751 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs370646887 17q12 17 35750081T> C null Q R 192 192 missense 0.07 benign 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782721203 17q12 17 35750077C> T null M I 193 193 missense 0.195 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1193517147 17q12 17 35749217C> T null V M 194 194 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1568103793 17q12 17 35749211T> A null S C 196 196 missense 0.926 probably damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782507872 17q12 17 35749205C> A null V L 198 198 missense 0.214 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599425 17q12 17 35749201C> T null S N 199 199 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140506424 17q12 17 35749192G> T null T K 202 202 7.99E-4 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140506424 17q12 17 35749192G> A null T M 202 202 7.99E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140506424 17q12 17 35749192G> C null T R 202 202 7.99E-4 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782121088 17q12 17 35749189C> A null C F 203 203 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1476571667 17q12 17 35749186G> C null P R 204 204 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782004435 17q12 17 35749171A> G null M T 209 209 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1430626592 17q12 17 35749163C> T null V M 212 212 missense 0.582 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599413 17q12 17 35749159G> A null S F 213 213 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782421974 17q12 17 35749149C> A null K N 216 216 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599405 17q12 17 35749146G> T null Y * 217 217 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599407 17q12 17 35749147T> C null Y C 217 217 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185902518 17q12 17 35749145G> A null R C 218 218 2.0E-4 missense 0.427 benign 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs781916124 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35749144C> T null R H 218 218 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782319274 17q12 17 35749138C> T null G D 220 220 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599402 17q12 17 35749139C> T null G S 220 220 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782206319 17q12 17 35749126G> T null T N 224 224 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599400 17q12 17 35749124G> T null L I 225 225 missense 0.88 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587699486 17q12 17 35749119G> C null I M 226 226 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1555599398 17q12 17 35749121T> C null I V 226 226 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599395 17q12 17 35749111C> T null R Q 229 229 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs587648574 17q12 17 35749112G> A null R W 229 229 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782738507 17q12 17 35747944A> T null I N 230 230 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782738507 17q12 17 35747944A> G null I T 230 230 missense 0.783 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147920035 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35747938C> T null R Q 232 232 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs587627832 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35747939G> A null R W 232 232 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs146777075 17q12 17 35747930C> T null V M 235 235 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782082920 17q12 17 35747925C> A null M I 236 236 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs201670008 17q12 17 35747927T> C null M V 236 236 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202192424 17q12 17 35747921G> A null R C 238 238 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782386293 17q12 17 35747920C> T null R H 238 238 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,gnomAD rs371875125 17q12 17 35747918C> T null V I 239 239 missense 0.534 possibly damaging 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed rs782428597 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35747909C> T null G S 242 242 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1180840161 17q12 17 35747901G> C null D E 244 244 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599255 17q12 17 35747902T> C null D G 244 244 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs914534605 17q12 17 35747903C> G null D H 244 244 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs147743370 17q12 17 35747896A> G null L P 246 246 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs147743370 17q12 17 35747896A> C null L R 246 246 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599253 17q12 17 35747893C> T null G D 247 247 missense 0.969 probably damaging 0.12 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs201121527 17q12 17 35747890T> C null H R 248 248 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1165737084 17q12 17 35747882C> T null D N 251 251 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782624210 17q12 17 35747875T> C null H R 253 253 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781888671 17q12 17 35747872T> G null D A 254 254 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,gnomAD rs782529922 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35747873C> T null D N 254 254 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587754002 17q12 17 35747866C> T null C Y 256 256 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140842796 17q12 17 35747864G> A null R C 257 257 0.001797 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782111847 17q12 17 35747858T> C null T A 259 259 missense 0.926 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599246 17q12 17 35747855A> T null S T 260 260 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs782181116 17q12 17 35747268G> A null S L 262 262 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1236094972 17q12 17 35747265T> C null H R 263 263 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599154 17q12 17 35747266G> A null H Y 263 263 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782157761 17q12 17 35747259G> A null P L 265 265 missense 0.335 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1555599150 17q12 17 35747260G> T null P T 265 265 missense 0.042 benign 0.46 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782345345 17q12 17 35747257C> T null G S 266 266 missense 0.652 possibly damaging 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1277704354 17q12 17 35747253C> A null S I 267 267 missense 0.924 probably damaging 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782636972 17q12 17 35747247A> G null L P 269 269 missense 0.315 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1216632496 17q12 17 35747244T> C null K R 270 270 missense 0.652 possibly damaging 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599140 17q12 17 35747242G> A null P S 271 271 missense 0.329 benign 0.39 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139867246 17q12 17 35747238G> A null P L 272 272 3.99E-4 missense 0.111 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs782785324 17q12 17 35747239G> A null P S 272 272 missense 0.169 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781847493 17q12 17 35747235G> T null A D 273 273 missense 0.726 possibly damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782596403 17q12 17 35747236C> T null A T 273 273 missense 0.03 benign 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781847493 17q12 17 35747235G> A null A V 273 273 missense 0.017 benign 0.35 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782148834 17q12 17 35747232G> A null P L 274 274 missense 0.682 possibly damaging 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs145983645 17q12 17 35747233G> A null P S 274 274 missense 0.249 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1382863370 17q12 17 35747229G> C null P R 275 275 missense 0.315 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782702949 17q12 17 35747230G> A null P S 275 275 missense 0.444 benign 0.2 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782060479 17q12 17 35747226A> G null V A 276 276 missense 0.306 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599120 17q12 17 35747224G> A null Q * 277 277 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142548393 17q12 17 35747222C> A null Q H 277 277 0.002796 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599113 17q12 17 35747219A> T null H Q 278 278 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599115 17q12 17 35747220T> C null H R 278 278 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782135675 17q12 17 35747208A> G null V A 282 282 missense 0.911 probably damaging 0.12 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599111 17q12 17 35747209C> T null V I 282 282 missense 0.839 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1346623155 17q12 17 35747187G> T null T N 289 289 missense 0.173 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs908685171 17q12 17 35747184T> G null Q P 290 290 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1568101910 17q12 17 35747175A> G null M T 293 293 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599107 17q12 17 35747169A> G null I T 295 295 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1555599103 17q12 17 35747166C> A null S I 296 296 missense 0.844 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782181618 17q12 17 35747164G> A null R C 297 297 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201782410 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35747163C> T null R H 297 297 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs868990062 17q12 17 35747154C> T null S N 300 300 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes rs587629921 17q12 17 35747151G> C null P R 301 301 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782335153 17q12 17 35747145G> T null P H 303 303 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782335153 17q12 17 35747145G> A null P L 303 303 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599098 17q12 17 35747146G> T null P T 303 303 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs587725999 17q12 17 35747143G> C null P A 304 304 5.99E-4 missense 0.137 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs587725999 17q12 17 35747143G> T null P T 304 304 5.99E-4 missense 0.831 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782625238 17q12 17 35747139A> G null V A 305 305 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782279339 17q12 17 35747136T> C null D G 306 306 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782514787 17q12 17 35747137C> T null D N 306 306 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1161526024 17q12 17 35747133C> A null W L 307 307 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599094 17q12 17 35747134A> G null W R 307 307 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs376360218 17q12 17 35747128T> C null T A 309 309 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782428852 17q12 17 35747127G> A null T I 309 309 missense 0.652 possibly damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs376360218 17q12 17 35747128T> G null T P 309 309 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781800912 17q12 17 35747118G> A null S F 312 312 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139340113 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q12 17 35747110G> A null R * 315 315 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs139340113 17q12 17 35747110G> C null R G 315 315 missense 0.035 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs370992265 17q12 17 35747109C> A null R L 315 315 missense 0.806 possibly damaging 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370992265 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35747109C> T null R Q 315 315 missense 0.178 benign 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs989215561 17q12 17 35747107T> C null R G 316 316 missense 0.199 benign 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781929212 17q12 17 35747105C> A null R S 316 316 missense 0.149 benign 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs377646781 17q12 17 35747100C> T null R K 318 318 missense 0.159 benign 0.3 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1333514435 17q12 17 35747099C> A null R S 318 318 missense 0.897 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1237647329 17q12 17 35747097G> A null P L 319 319 missense 0.104 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782086002 17q12 17 35747098G> A null P S 319 319 missense 0.104 benign 0.33 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782015287 17q12 17 35747094G> A null P L 320 320 missense 0.085 benign 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782252378 17q12 17 35747095G> A null P S 320 320 missense 0.139 benign 0.17 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782183306 17q12 17 35747091G> A null T I 321 321 missense 0.337 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed rs782584650 17q12 17 35747089G> C null P A 322 322 missense 0.0 benign 0.58 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1273002535 17q12 17 35747088G> C null P R 322 322 missense 0.166 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed rs782584650 17q12 17 35747089G> A null P S 322 322 missense 0.001 benign 0.7 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1179200349 17q12 17 35747085G> T null S Y 323 323 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599083 17q12 17 35747079G> C null P R 325 325 missense 0.105 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782531556 17q12 17 35747080G> A null P S 325 325 missense 0.046 benign 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599076 17q12 17 35747073G> C null P R 327 327 missense 0.867 possibly damaging 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599078 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35747074G> A null P S 327 327 missense 0.111 benign 0.43 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373436768 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35747071G> A null R C 328 328 missense 0.001 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs150792519 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35747070C> T null R H 328 328 7.99E-4 missense 0.001 benign 0.34 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599074 17q12 17 35747067C> T null R K 329 329 missense 0.098 benign 0.43 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781995302 17q12 17 35747065C> T null E K 330 330 missense 0.026 benign 0.53 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs781917339 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35747061C> T null R Q 331 331 missense 0.009 benign 0.59 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369252885 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35747062G> A null R W 331 331 missense 0.0 benign 0.27 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC rs782329126 17q12 17 35747058C> T null G E 332 332 missense 0.969 probably damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs199814494 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35747049G> A null T M 335 335 missense 0.01 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs199814494 17q12 17 35747049G> C null T R 335 335 missense 0.265 benign 0.27 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1232042570 17q12 17 35747046C> T null G E 336 336 missense 0.149 benign 0.43 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1356801820 17q12 17 35747047C> G null G R 336 336 missense 0.222 benign 0.42 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1232042570 17q12 17 35747046C> A null G V 336 336 missense 0.891 possibly damaging 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs200003144 17q12 17 35747044C> A null A S 337 337 0.001198 missense 0.015 benign 0.84 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1017367436 17q12 17 35747030C> A null M I 341 341 missense 0.094 benign 0.27 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1017367436 17q12 17 35747030C> T null M I 341 341 missense 0.094 benign 0.27 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599066 17q12 17 35747029C> A null A S 342 342 missense 0.46 possibly damaging 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782493837 17q12 17 35747023A> T null F I 344 344 missense 0.087 benign 0.42 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782493837 17q12 17 35747023A> G null F L 344 344 missense 0.012 benign 0.74 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781852003 17q12 17 35747019A> G null L P 345 345 missense 0.025 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1244232119 17q12 17 35746400C> T null R K 350 350 missense 0.036 benign 0.53 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782487976 17q12 17 35746397G> T null S Y 351 351 missense 0.459 possibly damaging 0.25 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781872060 17q12 17 35746395G> C null L V 352 352 missense 0.46 possibly damaging 0.49 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599005 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35746389G> A null P S 354 354 missense 0.169 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599005 17q12 17 35746389G> T null P T 354 354 missense 0.844 possibly damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1171929610 17q12 17 35746385G> A null S F 355 355 missense 0.819 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372670402 17q12 17 35746386A> G null S P 355 355 5.99E-4 missense 0.067 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781792991 17q12 17 35746383A> G null W R 356 356 missense 0.001 benign 0.41 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143661487 17q12 17 35746373G> A null P L 359 359 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143661487 17q12 17 35746373G> C null P R 359 359 3.99E-4 missense 0.005 benign 0.44 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555599000 17q12 17 35746374G> A null P S 359 359 missense 0.009 benign 0.6 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781975317 17q12 17 35746365C> T null G R 362 362 missense 0.49 possibly damaging 0.22 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782771713 17q12 17 35746362C> T null D N 363 363 missense 0.025 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782752408 17q12 17 35746358C> A null S I 364 364 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598998 17q12 17 35746356G> T null P T 365 365 missense 0.255 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs782445349 17q12 17 35746352G> A null P L 366 366 missense 0.025 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782170927 17q12 17 35746348G> T null S R 367 367 missense 0.043 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782170927 17q12 17 35746348G> C null S R 367 367 missense 0.043 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781938274 17q12 17 35746344G> C null Q E 369 369 missense 0.272 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781938274 17q12 17 35746344G> T null Q K 369 369 missense 0.235 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782334491 17q12 17 35746337G> A null S L 371 371 missense 0.22 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598994 17q12 17 35746335A> T null S T 372 372 missense 0.049 benign 0.51 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782226940 17q12 17 35746331G> A null T I 373 373 missense 0.037 benign 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598993 17q12 17 35746329G> A null Q * 374 374 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782539282 17q12 17 35746328T> C null Q R 374 374 missense 0.005 benign 0.51 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs982117634 17q12 17 35746325T> C null K R 375 375 missense 0.0 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs375527898 17q12 17 35746322C> A null G V 376 376 missense 0.543 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1012356107 17q12 17 35746320G> A null R * 377 377 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs144191508 17q12 17 35746319C> T null R Q 377 377 3.99E-4 missense 0.006 benign 0.64 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781824574 17q12 17 35746313G> A null P L 379 379 missense 0.024 benign 0.37 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598990 17q12 17 35746309C> A null Q H 380 380 missense 0.028 benign 0.38 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782767432 17q12 17 35746304G> T null T N 382 382 missense 0.676 possibly damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782503326 17q12 17 35746302A> C null S A 383 383 missense 0.197 benign 0.26 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs139141646 17q12 17 35746301G> A null S L 383 383 missense 0.012 benign 0.24 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782503326 17q12 17 35746302A> T null S T 383 383 missense 0.419 benign 0.25 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782162209 17q12 17 35746296C> T null G R 385 385 missense 0.519 possibly damaging 0.45 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs146645172 17q12 17 35746293T> C null K E 386 386 missense 0.046 benign 0.26 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598987 17q12 17 35746291C> A null K N 386 386 missense 0.599 possibly damaging 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1300751886 17q12 17 35746290T> C null R G 387 387 missense 0.691 possibly damaging 0.05 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1330021941 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35746287C> T null E K 388 388 missense 0.018 benign 0.34 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs56135703 17q12 17 35746282C> A null E D 389 389 0.05112 missense 0.0 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598986 17q12 17 35746284C> T null E K 389 389 missense 0.009 benign 0.32 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781966545 17q12 17 35746280C> A null R I 390 390 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,gnomAD rs781966545 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35746280C> T null R K 390 390 missense 0.105 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782275638 17q12 17 35746276G> T null Y * 391 391 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs201387695 17q12 17 35746278A> G null Y H 391 391 2.0E-4 missense 0.003 benign 0.56 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598979 17q12 17 35746274G> A null P L 392 392 missense 0.025 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,gnomAD rs147724556 17q12 17 35746272G> C null P A 393 393 missense 0.007 benign 0.21 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587630648 17q12 17 35746271G> A null P L 393 393 2.0E-4 missense 0.012 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587630648 17q12 17 35746271G> C null P R 393 393 2.0E-4 missense 0.029 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,gnomAD rs147724556 17q12 17 35746272G> A null P S 393 393 missense 0.012 benign 0.72 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587757863 17q12 17 35746269C> T null E K 394 394 2.0E-4 missense 0.419 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1470083041 17q12 17 35746266G> A null L F 395 395 missense 0.099 benign 0.61 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782606707 17q12 17 35746262G> A null P L 396 396 missense 0.012 benign 0.32 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs267604815 17q12 17 35746257C> A null G * 398 398 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,gnomAD rs267604815 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35746257C> T null G R 398 398 missense 0.519 possibly damaging 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782648157 17q12 17 35746252C> A null R S 399 399 missense 0.743 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598968 17q12 17 35746238C> T null W * 404 404 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598963 17q12 17 35746237C> A null W C 404 404 missense 0.227 benign 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs900198063 17q12 17 35746236C> T null V I 405 405 missense 0.059 benign 0.25 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782695784 17q12 17 35746231A> C null H Q 406 406 missense 0.139 benign 0.12 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781893994 17q12 17 35746232T> C null H R 406 406 missense 0.743 possibly damaging 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs587702439 17q12 17 35746233G> A null H Y 406 406 2.0E-4 missense 0.132 benign 0.27 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs140607972 17q12 17 35746223G> C null T R 409 409 missense 0.069 benign 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782745076 17q12 17 35746220T> C null D G 410 410 missense 0.018 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs142059348 17q12 17 35746204G> C null D E 415 415 missense 0.048 benign 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs202100272 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35746206C> T null D N 415 415 missense 0.041 benign 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs139833672 17q12 17 35746203C> G null A P 416 416 missense 0.122 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs139833672 17q12 17 35746203C> T null A T 416 416 missense 0.031 benign 0.39 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115955572 17q12 17 35746200C> T null G R 417 417 5.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1228364746 17q12 17 35746193G> A null P L 419 419 missense 0.073 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782401822 17q12 17 35746190G> A null T I 420 420 missense 0.041 benign 0.15 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1337434861 17q12 17 35746187G> A null P L 421 421 missense 0.248 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598947 17q12 17 35746188G> A null P S 421 421 missense 0.119 benign 0.28 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1231782813 17q12 17 35746181C> T null R K 423 423 missense 0.036 benign 0.4 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598945 17q12 17 35746180T> G null R S 423 423 missense 0.637 possibly damaging 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598943 17q12 17 35746178A> G null L P 424 424 missense 0.104 benign 0.21 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782765550 17q12 17 35746176G> A null R * 425 425 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782765550 17q12 17 35746176G> C null R G 425 425 missense 0.392 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs139277329 17q12 17 35746175C> T null R Q 425 425 missense 0.006 benign 0.95 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs144556689 17q12 17 35746172G> T null A D 426 426 missense 0.007 benign 0.32 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs144556689 17q12 17 35746172G> A null A V 426 426 missense 0.007 benign 0.26 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598938 17q12 17 35746169A> G null I T 427 427 missense 0.0 benign 0.24 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598937 17q12 17 35746167C> G null E Q 428 428 missense 0.139 benign 0.15 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782485123 17q12 17 35746157G> T null T N 431 431 missense 0.029 benign 0.28 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs200152054 17q12 17 35746147T> C null I M 434 434 missense 0.015 benign 0.21 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1482744642 17q12 17 35746146A> T null S T 435 435 missense 0.363 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782564406 17q12 17 35746142G> A null A V 436 436 missense 0.149 benign 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781791810 17q12 17 35746139C> T null R K 437 437 missense 0.159 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782730530 17q12 17 35746136C> A null G V 438 438 missense 0.596 possibly damaging 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs958169147 17q12 17 35746124A> T null L Q 442 442 missense 0.97 probably damaging 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes rs587690793 17q12 17 35746121G> A null P L 443 443 2.0E-4 missense 0.386 benign 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs80033981 17q12 17 35746119G> A null R C 444 444 0.005391 missense 0.007 benign 0.15 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs200474178 17q12 17 35746118C> T null R H 444 444 3.99E-4 missense 0.007 benign 0.24 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,TOPMed,gnomAD rs377164027 17q12 17 35746113A> C null F V 446 446 missense 0.026 benign 0.38 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs755683769 17q12 17 35746109C> T null G D 447 447 missense 0.096 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs966886836 17q12 17 35746106G> C null P R 448 448 missense 0.043 benign 0.39 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782409399 17q12 17 35746107G> A null P S 448 448 missense 0.019 benign 0.32 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs372416670 17q12 17 35746103G> T null A D 449 449 missense 0.84 possibly damaging 0.2 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs372416670 17q12 17 35746103G> C null A G 449 449 missense 0.598 possibly damaging 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139624793 17q12 17 35746101C> T null E K 450 450 0.002995 missense 0.0 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782632924 17q12 17 35746091C> T null G D 453 453 missense 0.093 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs900148816 17q12 17 35746089G> A null L F 454 454 missense 0.042 benign 0.52 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782278935 17q12 17 35746084C> G null R S 455 455 missense 0.197 benign 0.21 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes rs587706674 17q12 17 35746079G> A null P L 457 457 2.0E-4 missense 0.105 benign 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,TOPMed rs139075841 17q12 17 35746073C> T null R Q 459 459 missense 0.013 benign 0.38 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs142992033 17q12 17 35746074G> A null R W 459 459 missense 0.007 benign 0.15 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs887541586 17q12 17 35746067T> C null E G 461 461 missense 0.046 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP rs147264031 17q12 17 35746065C> T null A T 462 462 missense 0.152 benign 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143921323 17q12 17 35746056C> T null A T 465 465 0.001198 missense 0.249 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138443173 17q12 17 35746055G> A null A V 465 465 2.0E-4 missense 0.169 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781876253 17q12 17 35746042G> T null F L 469 469 missense 0.0 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598913 17q12 17 35746038C> T null E K 471 471 missense 0.16 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1045664817 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35746035G> C null P A 472 472 missense 0.046 benign 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs202245239 17q12 17 35746034G> C null P R 472 472 missense 0.761 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1045664817 17q12 17 35746035G> A null P S 472 472 missense 0.019 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598912 17q12 17 35746031T> A null E V 473 473 missense 0.001 benign 0.3 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143763999 17q12 17 35746029A> G null S P 474 474 2.0E-4 missense 0.012 benign 0.15 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598909 17q12 17 35746025A> G null V A 475 475 missense 0.043 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185846403 17q12 17 35746023G> A null R C 476 476 2.0E-4 missense 0.005 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782722323 17q12 17 35746022C> T null R H 476 476 missense 0.005 benign 0.23 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,gnomAD rs782075862 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35746019G> A null S F 477 477 missense 0.97 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598906 17q12 17 35746017G> A null P S 478 478 missense 0.182 benign 0.52 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148993155 17q12 17 35746014T> C null T A 479 479 5.99E-4 missense 0.007 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,gnomAD rs782017848 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35746010G> A null P L 480 480 missense 0.386 benign 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs138939025 17q12 17 35746011G> A null P S 480 480 missense 0.523 possibly damaging 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782311242 17q12 17 35746008C> T null V I 481 481 missense 0.025 benign 0.3 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782199853 17q12 17 35746003T> G null Q H 482 482 missense 0.503 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781952914 17q12 17 35746001C> G null G A 483 483 missense 0.046 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781952914 17q12 17 35746001C> T null G D 483 483 missense 0.105 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150279630 17q12 17 35745999G> C null L V 484 484 0.003395 missense 0.287 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598901 17q12 17 35745995G> A null T I 485 485 missense 0.159 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1363115082 17q12 17 35745992T> G null K T 486 486 missense 0.929 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs752191126 17q12 17 35745987G> C null P A 488 488 missense 0.386 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146429928 17q12 17 35745981G> C null R G 490 490 2.0E-4 missense 0.474 possibly damaging 0.27 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782449546 17q12 17 35745980C> G null R P 490 490 missense 0.809 possibly damaging 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782449546 17q12 17 35745980C> T null R Q 490 490 missense 0.013 benign 0.44 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146429928 17q12 17 35745981G> A null R W 490 490 2.0E-4 missense 0.013 benign 0.17 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782733639 17q12 17 35745977A> G null L P 491 491 missense 0.027 benign 0.22 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,gnomAD rs373769097 17q12 17 35745978G> C null L V 491 491 missense 0.031 benign 0.3 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782509335 17q12 17 35745972G> C null P A 493 493 missense 0.248 benign 0.31 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782509335 17q12 17 35745972G> A null P S 493 493 missense 0.072 benign 0.39 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1568100266 17q12 17 35745968G> C null A G 494 494 missense 0.067 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598889 17q12 17 35745969C> G null A P 494 494 missense 0.019 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199921910 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745966G> A null R C 495 495 2.0E-4 missense 0.007 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199921910 17q12 17 35745966G> C null R G 495 495 2.0E-4 missense 0.474 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144024552 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745965C> T null R H 495 495 2.0E-4 missense 0.013 benign 0.17 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144024552 17q12 17 35745965C> A null R L 495 495 2.0E-4 missense 0.033 benign 0.05 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781934523 17q12 17 35745962G> A null P L 496 496 missense 0.206 benign 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598885 17q12 17 35745963G> A null P S 496 496 missense 0.31 benign 0.2 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782732896 17q12 17 35745960G> C null P A 497 497 missense 0.575 possibly damaging 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1412217590 17q12 17 35745959G> T null P Q 497 497 missense 0.897 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1412217590 17q12 17 35745959G> C null P R 497 497 missense 0.865 possibly damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782732896 17q12 17 35745960G> A null P S 497 497 missense 0.169 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782732896 17q12 17 35745960G> T null P T 497 497 missense 0.691 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1017652688 17q12 17 35745944C> A null S I 502 502 missense 0.867 possibly damaging 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs140293881 17q12 17 35745939G> C null P A 504 504 missense 0.012 benign 0.6 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs140293881 17q12 17 35745939G> A null P S 504 504 missense 0.034 benign 0.54 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1319028932 17q12 17 35745935C> A null G V 505 505 missense 0.983 probably damaging 0.05 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782280146 17q12 17 35745933C> A null A S 506 506 missense 0.015 benign 0.39 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs190744359 17q12 17 35745930T> C null T A 507 507 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1441975487 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745929G> A null T I 507 507 missense 0.005 benign 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1305855478 17q12 17 35745923C> G null G A 509 509 missense 0.025 benign 0.34 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598879 17q12 17 35745924C> G null G R 509 509 missense 0.059 benign 0.26 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1305855478 17q12 17 35745923C> A null G V 509 509 missense 0.059 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782305824 17q12 17 35745920C> A null S I 510 510 missense 0.06 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1218662518 17q12 17 35745919A> C null S R 510 510 missense 0.005 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs767178492 17q12 17 35745914C> T null R K 512 512 missense 0.005 benign 0.92 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1317517763 17q12 17 35745913C> A null R S 512 512 missense 0.005 benign 0.73 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781897672 17q12 17 35745905A> C null L R 515 515 missense 0.027 benign 0.24 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598865 17q12 17 35745902C> T null G E 516 516 missense 0.018 benign 0.69 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598863 17q12 17 35745900T> C null R G 517 517 missense 0.105 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs151183482 17q12 17 35745895G> C null D E 518 518 missense 0.013 benign 0.2 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs151183482 17q12 17 35745895G> T null D E 518 518 missense 0.013 benign 0.2 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782484178 17q12 17 35745894G> C null P A 519 519 missense 0.702 possibly damaging 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782657129 17q12 17 35745893G> T null P H 519 519 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782657129 17q12 17 35745893G> A null P L 519 519 missense 0.222 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782484178 17q12 17 35745894G> A null P S 519 519 missense 0.108 benign 0.29 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782484178 17q12 17 35745894G> T null P T 519 519 missense 0.844 possibly damaging 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142165705 17q12 17 35745890A> T null I N 520 520 3.99E-4 missense 0.578 possibly damaging 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1157552730 17q12 17 35745888G> A null P S 521 521 missense 0.06 benign 0.15 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781903482 17q12 17 35745881C> T null R K 523 523 missense 0.036 benign 0.38 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12602590 17q12 17 35745879C> T null A T 524 524 0.1272 missense 0.169 benign 0.21 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145313062 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745876C> T null V I 525 525 7.99E-4 missense 0.007 benign 0.4 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC rs782133626 17q12 17 35745861C> T null A T 530 530 missense 0.098 benign 0.37 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC rs781891651 17q12 17 35745858C> G null G R 531 531 missense 0.073 benign 0.51 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782820778 17q12 17 35745855A> T null S T 532 532 missense 0.046 benign 0.15 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598854 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745854G> T null S Y 532 532 missense 0.564 possibly damaging 0.28 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs199809536 17q12 17 35745851G> A null T M 533 533 2.0E-4 missense 0.707 possibly damaging 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147247523 17q12 17 35745848T> C null H R 534 534 3.99E-4 missense 0.047 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782094861 17q12 17 35745849G> A null H Y 534 534 missense 0.02 benign 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587714442 17q12 17 35745845C> T null G E 535 535 2.0E-4 missense 0.045 benign 0.39 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782396320 17q12 17 35745846C> T null G R 535 535 missense 0.162 benign 0.21 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1291750737 17q12 17 35745842T> G null D A 536 536 missense 0.373 benign 0.36 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC rs782207630 17q12 17 35745841G> C null D E 536 536 missense 0.373 benign 0.41 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC rs782207630 17q12 17 35745841G> T null D E 536 536 missense 0.373 benign 0.41 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs369503637 17q12 17 35745833A> C null V G 539 539 missense 0.044 benign 0.33 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs201240310 17q12 17 35745831C> T null E K 540 540 2.0E-4 missense 0.011 benign 0.49 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC rs782663473 17q12 17 35745828C> A null V L 541 541 missense 0.06 benign 0.65 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782537924 17q12 17 35745823C> A null R S 542 542 missense 0.007 benign 0.35 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs587723276 17q12 17 35745817C> G null E D 544 544 2.0E-4 missense 0.171 benign 0.35 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598847 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745819C> T null E K 544 544 missense 0.005 benign 0.34 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs868925156 17q12 17 35745815T> C null D G 545 545 missense 0.001 benign 0.2 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598844 17q12 17 35745816C> T null D N 545 545 missense 0.628 possibly damaging 0.18 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782088961 17q12 17 35745813G> T null Q K 546 546 missense 0.568 possibly damaging 0.52 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598839 17q12 17 35745808C> G null Q H 547 547 missense 0.642 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs181962321 17q12 17 35745794A> T null V D 552 552 5.99E-4 missense 0.043 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1167636380 17q12 17 35745795C> A null V F 552 552 missense 0.564 possibly damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1167636380 17q12 17 35745795C> G null V L 552 552 missense 0.011 benign 0.21 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587761515 17q12 17 35745792T> A null M L 553 553 2.0E-4 missense 0.0 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1405028891 17q12 17 35745785T> C null E G 555 555 missense 0.05 benign 0.27 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782023693 17q12 17 35745786C> T null E K 555 555 missense 0.03 benign 0.3 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598827 17q12 17 35745775C> A null E D 558 558 missense 0.012 benign 0.23 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1171346661 17q12 17 35745771A> T null W R 560 560 missense 0.0 benign 0.36 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598823 17q12 17 35745764A> G null L P 562 562 missense 0.03 benign 0.23 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598823 17q12 17 35745764A> C null L R 562 562 missense 0.044 benign 0.32 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1408013178 17q12 17 35745765G> C null L V 562 562 missense 0.462 possibly damaging 0.31 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs137899954 17q12 17 35745761C> T null G D 563 563 2.0E-4 missense 0.059 benign 0.15 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598820 17q12 17 35745762C> T null G S 563 563 missense 0.099 benign 0.34 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598818 17q12 17 35745756G> T null Q K 565 565 missense 0.272 benign 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1349864139 17q12 17 35745753C> T null E K 566 566 missense 0.02 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598816 17q12 17 35745743C> T null G E 569 569 missense 0.105 benign 0.33 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs782648695 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35745744C> T null G R 569 569 missense 0.105 benign 0.37 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1353957409 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745740C> T null R Q 570 570 missense 0.022 benign 0.41 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116032072 17q12 17 35745741G> A null R W 570 570 0.001198 missense 0.828 possibly damaging 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782291020 17q12 17 35745732G> A null P S 573 573 missense 0.098 benign 0.12 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs782050578 17q12 17 35745725G> A null P L 575 575 missense 0.059 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs965280119 17q12 17 35745726G> A null P S 575 575 missense 0.098 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1250419663 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745721C> A null L F 576 576 missense 0.894 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1343702551 17q12 17 35745722A> G null L S 576 576 missense 0.139 benign 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146187323 17q12 17 35745717C> T null G R 578 578 7.99E-4 missense 0.003 benign 0.81 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1568099745 17q12 17 35745712G> T null N K 579 579 missense 0.062 benign 0.17 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1472645356 17q12 17 35745713T> C null N S 579 579 missense 0.003 benign 0.29 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1168727888 17q12 17 35745710T> C null K R 580 580 missense 0.041 benign 0.28 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782216447 17q12 17 35745708C> T null E K 581 581 missense 0.073 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs587719268 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35745702C> T null A T 583 583 2.0E-4 missense 0.139 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,gnomAD rs782501507 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745701G> A null A V 583 583 missense 0.085 benign 0.12 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598804 17q12 17 35745698A> G null I T 584 584 missense 0.02 benign 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1026413054 17q12 17 35745693A> G null C R 586 586 missense 0.098 benign 0.56 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1026413054 17q12 17 35745693A> T null C S 586 586 missense 0.062 benign 0.25 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598801 17q12 17 35745687G> T null L I 588 588 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782814341 17q12 17 35745676C> A null E D 591 591 missense 0.105 benign 0.05 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782797535 17q12 17 35745677T> C null E G 591 591 missense 0.885 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs62078165 17q12 17 35745671A> G null L S 593 593 missense 0.169 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs62078165 17q12 17 35745671A> C null L W 593 593 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598799 17q12 17 35745669C> A null G C 594 594 missense 0.605 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs62078164 17q12 17 35745668C> T null G D 594 594 missense 0.005 benign 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs62078164 17q12 17 35745668C> A null G V 594 594 missense 0.005 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598797 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745662A> G null M T 596 596 missense 0.139 benign 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782097671 17q12 17 35745657G> T null L M 598 598 missense 0.792 possibly damaging 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC rs782789870 17q12 17 35745641C> T null S N 603 603 missense 0.062 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782147689 17q12 17 35745639C> T null A T 604 604 missense 0.104 benign 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs782029559 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35745632G> A null P L 606 606 missense 0.049 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782191746 17q12 17 35745624T> C null T A 609 609 missense 0.036 benign 0.18 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1024112542 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745614C> T null G E 612 612 missense 0.543 possibly damaging 0.62 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs971140873 17q12 17 35745615C> T null G R 612 612 missense 0.059 benign 0.36 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781941641 17q12 17 35745612C> T null V I 613 613 missense 0.02 benign 0.49 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782113680 17q12 17 35745603G> A null R C 616 616 missense 0.636 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782306915 17q12 17 35745602C> T null R H 616 616 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782306915 17q12 17 35745602C> G null R P 616 616 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1202728069 17q12 17 35745596C> T null G E 618 618 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598792 17q12 17 35745597C> T null G R 618 618 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598791 17q12 17 35745593A> G null V A 619 619 missense 1.0 probably damaging 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598790 17q12 17 35745581C> A null R M 623 623 missense 0.477 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1000531601 17q12 17 35745580C> A null R S 623 623 missense 0.0 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1442211865 17q12 17 35745575G> A null A V 625 625 missense 0.026 benign 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782571361 17q12 17 35745557G> A null P L 631 631 missense 0.315 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs587736415 17q12 17 35745554C> T null G E 632 632 2.0E-4 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs112674267 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35745551C> T null G D 633 633 missense 0.299 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs112674267 17q12 17 35745551C> A null G V 633 633 missense 0.394 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598786 17q12 17 35745538T> A null K N 637 637 missense 0.927 probably damaging 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3744374 17q12 17 35745536G> A null A V 638 638 0.2019 missense 0.0 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1568099482 17q12 17 35745519G> A null Q * 644 644 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1174263659 17q12 17 35745515C> G null G A 645 645 missense 0.841 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1174263659 17q12 17 35745515C> A null G V 645 645 missense 0.444 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598779 17q12 17 35745512G> A null S F 646 646 missense 0.123 benign 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes rs199708985 17q12 17 35745513A> G null S P 646 646 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs200239810 17q12 17 35745509G> A null P L 647 647 2.0E-4 missense 0.519 possibly damaging 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs200239810 17q12 17 35745509G> C null P R 647 647 2.0E-4 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141500997 17q12 17 35745510G> A null P S 647 647 2.0E-4 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1371107890 17q12 17 35745506G> T null S Y 648 648 missense 0.382 benign 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1344989194 17q12 17 35745504G> A null L F 649 649 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1344989194 17q12 17 35745504G> C null L V 649 649 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs137860977 17q12 17 35745500A> G null L P 650 650 0.01258 missense 0.952 probably damaging 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs137860977 17q12 17 35745500A> C null L R 650 650 0.01258 missense 0.935 probably damaging 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs782399777 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745496T> G null K N 651 651 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782279539 17q12 17 35745494A> C null V G 652 652 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782037187 17q12 17 35745491T> C null D G 653 653 missense 0.953 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598771 17q12 17 35745492C> T null D N 653 653 missense 0.519 possibly damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs918889612 17q12 17 35745489G> T null L M 654 654 missense 0.477 possibly damaging 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598770 17q12 17 35745485T> C null E G 655 655 missense 0.0 benign 0.41 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1196939048 17q12 17 35745482G> A null A V 656 656 missense 0.905 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598769 17q12 17 35745474C> A null A S 659 659 missense 0.049 benign 0.24 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598768 17q12 17 35745473G> A null A V 659 659 missense 0.017 benign 0.36 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598767 17q12 17 35745470G> T null A D 660 660 missense 0.043 benign 0.12 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs373695691 17q12 17 35745467G> A null P L 661 661 missense 0.049 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782314680 17q12 17 35745468G> A null P S 661 661 missense 0.031 benign 0.52 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs971733270 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35745462C> A null G C 663 663 missense 0.069 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782263755 17q12 17 35745461C> T null G D 663 663 missense 0.069 benign 0.23 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs971733270 17q12 17 35745462C> G null G R 663 663 missense 0.751 possibly damaging 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1321063323 17q12 17 35745458G> A null S F 664 664 missense 0.044 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782560360 17q12 17 35745455G> A null P L 665 665 missense 0.073 benign 0.18 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598758 17q12 17 35745456G> A null P S 665 665 missense 0.121 benign 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781785259 17q12 17 35745451C> A null K N 666 666 missense 0.099 benign 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598757 17q12 17 35745447C> T null A T 668 668 missense 0.169 benign 0.25 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs267604814 17q12 17 35745446G> A null A V 668 668 missense 0.66 possibly damaging 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598755 17q12 17 35745443A> G null V A 669 669 missense 0.028 benign 0.12 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs587679546 17q12 17 35745431G> A null P L 673 673 2.0E-4 missense 0.071 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598752 17q12 17 35745426T> C null S G 675 675 missense 0.011 benign 0.2 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598751 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745425C> T null S N 675 675 missense 0.011 benign 0.23 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1228101609 17q12 17 35745418T> A null K N 677 677 missense 0.662 possibly damaging 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC rs781915196 17q12 17 35745420T> G null K Q 677 677 missense 0.099 benign 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1327549079 17q12 17 35745419T> C null K R 677 677 missense 0.543 possibly damaging 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782141710 17q12 17 35745410A> G null L S 680 680 missense 0.477 possibly damaging 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1024040783 17q12 17 35745411A> C null L V 680 680 missense 0.233 benign 0.29 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs991674910 17q12 17 35745407C> A null G V 681 681 missense 0.625 possibly damaging 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781891550 17q12 17 35745397C> G null Q H 684 684 missense 0.482 possibly damaging 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598744 17q12 17 35745399G> T null Q K 684 684 missense 0.0 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs958534897 17q12 17 35745393C> T null G R 686 686 missense 0.093 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1033275519 17q12 17 35745390G> A null P S 687 687 missense 0.098 benign 0.26 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1266812912 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745386C> T null R K 688 688 missense 0.007 benign 0.57 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1266812912 17q12 17 35745386C> G null R T 688 688 missense 0.255 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782116399 17q12 17 35745379C> G null K N 690 690 missense 0.047 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782345544 17q12 17 35745381T> G null K Q 690 690 missense 0.078 benign 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598728 17q12 17 35745377G> C null A G 691 691 missense 0.025 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598732 17q12 17 35745378C> T null A T 691 691 missense 0.098 benign 0.23 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs370664265 17q12 17 35745375T> C null S G 692 692 missense 0.012 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598721 17q12 17 35745366C> A null A S 695 695 missense 0.098 benign 0.34 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598720 17q12 17 35745365G> A null A V 695 695 missense 0.059 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598719 17q12 17 35745359C> T null G D 697 697 missense 0.015 benign 0.28 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1471564676 17q12 17 35745346C> G null R S 701 701 missense 0.03 benign 0.15 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598717 17q12 17 35745338G> A null P L 704 704 missense 0.046 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598717 17q12 17 35745338G> T null P Q 704 704 missense 0.813 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1158216228 17q12 17 35745336G> A null P S 705 705 missense 0.007 benign 0.71 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1158216228 17q12 17 35745336G> T null P T 705 705 missense 0.014 benign 0.22 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,gnomAD rs782286070 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q12 17 35745333G> A null Q * 706 706 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782574191 17q12 17 35745332T> C null Q R 706 706 missense 0.36 benign 0.55 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782316132 17q12 17 35745327C> T null G R 708 708 missense 0.16 benign 0.22 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598712 17q12 17 35745321C> T null D N 710 710 missense 0.031 benign 0.21 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1459158102 17q12 17 35745317C> T null C Y 711 711 missense 0.132 benign 0.39 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs140261341 17q12 17 35745314G> A null S L 712 712 missense 0.071 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598704 17q12 17 35745311G> T null A D 713 713 missense 0.073 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1555598702 17q12 17 35745305G> A null T I 715 715 missense 0.029 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781882448 17q12 17 35745302A> C null V G 716 716 missense 0.027 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1409843424 17q12 17 35745303C> G null V L 716 716 missense 0.011 benign 0.27 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs587600563 17q12 17 35745290G> A null P L 720 720 3.99E-4 missense 0.007 benign 0.76 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598698 17q12 17 35745291G> A null P S 720 720 missense 0.021 benign 0.7 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782080091 17q12 17 35745284G> C null A G 722 722 missense 0.02 benign 0.33 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782080091 17q12 17 35745284G> A null A V 722 722 missense 0.012 benign 0.35 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs770241466 17q12 17 35745282G> C null P A 723 723 missense 0.046 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1242925256 17q12 17 35745281G> A null P L 723 723 missense 0.031 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs770241466 17q12 17 35745282G> A null P S 723 723 missense 0.031 benign 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs202089722 17q12 17 35745276G> C null P A 725 725 missense 0.03 benign 0.32 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782033722 17q12 17 35745275G> A null P L 725 725 missense 0.03 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs202089722 17q12 17 35745276G> A null P S 725 725 missense 0.031 benign 0.22 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782697040 17q12 17 35745272G> A null S L 726 726 missense 0.005 benign 0.47 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598685 17q12 17 35745269G> A null P L 727 727 missense 0.018 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781946547 17q12 17 35745270G> A null P S 727 727 missense 0.019 benign 0.34 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1181323069 17q12 17 35745261G> C null P A 730 730 missense 0.149 benign 0.17 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs145273976 17q12 17 35745257T> C null N S 731 731 missense 0.006 benign 0.97 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112426189 17q12 17 35745245G> T null A D 735 735 0.005791 missense 0.826 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782411513 17q12 17 35745246C> T null A T 735 735 missense 0.077 benign 0.25 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598681 17q12 17 35745242T> G null K T 736 736 missense 0.662 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782571143 17q12 17 35745237A> T null C S 738 738 missense 0.087 benign 0.54 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,gnomAD rs147442768 17q12 17 35745234G> C null L V 739 739 2.0E-4 missense 0.209 benign 0.24 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782527664 17q12 17 35745213G> C null L V 746 746 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781885696 17q12 17 35745210G> C null R G 747 747 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs587675032 17q12 17 35745209C> T null R Q 747 747 7.99E-4 missense 0.538 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781885696 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745210G> A null R W 747 747 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782436682 17q12 17 35745207T> C null K E 748 748 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1312446638 17q12 17 35745204G> T null P T 749 749 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598674 17q12 17 35745201T> C null K E 750 750 missense 0.013 benign 0.58 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed rs781805337 17q12 17 35745198T> C null R G 751 751 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782725749 17q12 17 35745197C> T null R K 751 751 missense 0.059 benign 0.17 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs991227913 17q12 17 35745195C> T null V I 752 752 missense 0.101 benign 0.26 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs148516918 17q12 17 35745191G> A null P L 753 753 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC rs781980631 17q12 17 35745192G> A null P S 753 753 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1256453755 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35745185A> G null I T 755 755 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782040670 17q12 17 35745186T> C null I V 755 755 missense 0.978 probably damaging 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782316770 17q12 17 35745176A> G null L P 758 758 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1555598666 17q12 17 35745165G> T null P T 762 762 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs141070373 17q12 17 35745161C> T null R K 763 763 3.99E-4 missense 0.094 benign 0.52 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1198587245 17q12 17 35745158A> C null I S 764 764 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144720767 17q12 17 35745155C> A null R L 765 765 3.99E-4 missense 0.87 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144720767 17q12 17 35745155C> G null R P 765 765 3.99E-4 missense 0.261 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144720767 17q12 17 35745155C> T null R Q 765 765 3.99E-4 missense 0.259 benign 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,gnomAD rs781953539 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745156G> A null R W 765 765 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs375770171 17q12 17 35745149C> T null R Q 767 767 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,gnomAD rs782543839 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745150G> A null R W 767 767 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598656 17q12 17 35745142G> T null D E 769 769 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782248699 17q12 17 35745143T> C null D G 769 769 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598652 17q12 17 35745137C> T null R K 771 771 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202079733 17q12 17 35745134G> A null P L 772 772 0.001997 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782521632 17q12 17 35745117G> A null R * 778 778 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs782603064 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35745116C> T null R Q 778 778 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598646 17q12 17 35745111G> A null P S 780 780 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598645 17q12 17 35745105G> A null P S 782 782 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1295612513 17q12 17 35745099C> A null A S 784 784 missense 0.767 possibly damaging 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782052086 17q12 17 35745098G> A null A V 784 784 missense 0.331 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781812252 17q12 17 35745095T> C null Y C 785 785 missense 0.386 benign 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1219820197 17q12 17 35745093C> T null V I 786 786 missense 0.038 benign 0.06 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1313939886 17q12 17 35745088G> C null F L 787 787 missense 0.003 benign 0.65 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1019381911 17q12 17 35745078C> A null A S 791 791 missense 0.691 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598630 17q12 17 35745071T> C null Q R 793 793 missense 0.001 benign 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1245760061 17q12 17 35745068G> A null P L 794 794 missense 0.067 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782400830 17q12 17 35745069G> A null P S 794 794 missense 0.111 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782400830 17q12 17 35745069G> T null P T 794 794 missense 0.169 benign 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781916243 17q12 17 35745065G> T null P H 795 795 missense 0.059 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781916243 17q12 17 35745065G> A null P L 795 795 missense 0.037 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs781916243 17q12 17 35745065G> C null P R 795 795 missense 0.059 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598614 17q12 17 35745060C> A null D Y 797 797 missense 0.275 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs371399449 17q12 17 35745051A> C null L V 800 800 2.0E-4 missense 0.012 benign 0.58 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782257609 17q12 17 35745048T> C null R G 801 801 missense 0.162 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782680853 17q12 17 35745042C> T null V M 803 803 missense 0.023 benign 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782471867 17q12 17 35745026C> T null G E 808 808 missense 0.046 benign 0.21 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782582514 17q12 17 35745027C> G null G R 808 808 missense 0.067 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782765470 17q12 17 35745023C> T null G E 809 809 missense 0.031 benign 0.46 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1388269909 17q12 17 35745017G> A null A V 811 811 missense 0.105 benign 0.18 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598606 17q12 17 35745014G> T null S Y 812 812 missense 0.381 benign 0.73 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs146126521 17q12 17 35745011C> T null R Q 813 813 missense 0.001 benign 0.42 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs56386706 17q12 17 35745012G> A null R W 813 813 0.02596 missense 0.663 possibly damaging 0.19 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,TOPMed rs143011906 17q12 17 35745009C> T null V M 814 814 missense 0.328 benign 0.08 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs950296278 17q12 17 35745002C> T null G E 816 816 missense 0.222 benign 0.05 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598599 17q12 17 35745003C> T null G R 816 816 missense 0.149 benign 0.18 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs369724181 17q12 17 35744999G> C null A G 817 817 missense 0.024 benign 0.16 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782058697 17q12 17 35745000C> T null A T 817 817 missense 0.099 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs369724181 17q12 17 35744999G> A null A V 817 817 missense 0.041 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598596 17q12 17 35744996G> A null S L 818 818 missense 0.012 benign 0.69 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP rs138478649 17q12 17 35744997A> G null S P 818 818 missense 0.02 benign 0.24 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598595 17q12 17 35744986C> A null E D 821 821 missense 0.769 possibly damaging 0.49 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1230071571 17q12 17 35744985C> T null E K 822 822 missense 0.003 benign 0.69 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs937056712 17q12 17 35744981T> G null E A 823 823 missense 0.024 benign 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs991570243 17q12 17 35744982C> T null E K 823 823 missense 0.067 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781998172 17q12 17 35744978T> C null E G 824 824 missense 0.149 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598591 17q12 17 35744979C> G null E Q 824 824 missense 0.844 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1221801987 17q12 17 35744972C> G null G A 826 826 missense 0.615 possibly damaging 0.21 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,gnomAD rs587653293 17q12 17 35744973C> T null G R 826 826 3.99E-4 missense 0.106 benign 0.18 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598587 17q12 17 35744967C> G null E Q 828 828 missense 0.687 possibly damaging 0.09 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782567908 17q12 17 35744962C> G null E D 829 829 missense 0.003 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782305521 17q12 17 35744964C> G null E Q 829 829 missense 0.005 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598585 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35744960T> C null K R 830 830 missense 0.03 benign 0.19 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598583 17q12 17 35744958C> A null E * 831 831 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs1555598582 17q12 17 35744956C> G null E D 831 831 missense 0.059 benign 0.17 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs782213391 17q12 17 35744955G> T null P T 832 832 missense 0.05 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145918686 17q12 17 35744949C> A null A S 834 834 0.003395 missense 0.057 benign 0.34 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145918686 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35744949C> T null A T 834 834 0.003395 missense 0.02 benign 0.86 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs199696873 17q12 17 35744948G> A null A V 834 834 2.0E-4 missense 0.018 benign 0.46 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1473856773 17q12 17 35744942A> C null L W 836 836 missense 0.188 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs913081559 17q12 17 35744938C> A null E D 837 837 missense 0.027 benign 0.03 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598578 17q12 17 35744935G> C null S R 838 838 missense 0.062 benign 0.12 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ExAC rs200657611 17q12 17 35744936C> G null S T 838 838 2.0E-4 missense 0.562 possibly damaging 0.02 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed,gnomAD rs1157480627 17q12 17 35744932G> C null S R 839 839 missense 0.037 benign 0.15 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,ExAC,TOPMed,gnomAD rs376884715 17q12 17 35744930G> A null P L 840 840 missense 0.011 benign 0.44 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598576 17q12 17 35744926T> A null Q H 841 841 missense 0.914 probably damaging 0.04 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,gnomAD rs371720995 17q12 17 35744924G> A null P L 842 842 2.0E-4 missense 0.018 benign 0.11 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782718091 17q12 17 35744925G> T null P T 842 842 missense 0.027 benign 0.15 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs965268678 17q12 17 35744921G> C null P R 843 843 missense 0.242 benign 0.13 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1348233649 17q12 17 35744915C> A null G V 845 845 missense 0.826 possibly damaging 0.01 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782142904 17q12 17 35744912A> G null L P 846 846 missense 0.019 benign 0.31 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598570 17q12 17 35744910G> T null Q K 847 847 missense 0.009 benign 1.0 tolerated - low confidence 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115568763 17q12 17 35744906G> A null P L 848 848 0.004992 missense 0.072 benign 0.23 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1411559298 17q12 17 35744902G> T null H Q 849 849 missense 0.001 benign 1.0 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148201681 17q12 17 35744898G> A null L F 851 851 2.0E-4 missense 0.027 benign 0.12 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148201681 17q12 17 35744898G> T null L I 851 851 2.0E-4 missense 0.043 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs953445503 17q12 17 35744891T> A null Q L 853 853 missense 0.667 possibly damaging 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,gnomAD rs781960987 17q12 17 35744889C> A null A S 854 854 missense 0.068 benign 0.14 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1349627572 17q12 17 35744880G> T null P T 857 857 missense 0.105 benign 0.07 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598568 17q12 17 35744877G> A null P S 858 858 missense 0.12 benign 0.1 tolerated 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 gnomAD rs1555598566 17q12 17 35744873T> C null E G 859 859 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1274715141 17q12 17 35744861C> T null W * 863 863 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782002342 17q12 17 35744860C> T null W * 863 863 stop gained 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ESP,TOPMed,gnomAD rs369433028 17q12 17 35744862A> G null W R 863 863 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 ExAC,TOPMed,gnomAD rs782408278 17q12 17 35744858A> G null V A 864 864 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 Ensembl rs368247534 17q12 17 35744859C> A null V F 864 864 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7B7 GAS2L2 GAS2-like protein 2 TOPMed rs1232696236 17q12 17 35744854T> C null * W 865 865 stop lost 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1334371320 16p11.2 16 33802767G> A null E K 2 2 missense 0.019 benign 0.15 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1285203469 16p11.2 16 33802772T> A null F L 3 3 missense 0.005 benign 0.57 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs577918807 16p11.2 16 33802771T> C null F S 3 3 2.0E-4 missense 0.051 benign 0.15 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs577918807 16p11.2 16 33802771T> A null F Y 3 3 2.0E-4 missense 0.048 benign 0.05 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1487050079 16p11.2 16 33802773G> T null E * 4 4 stop gained 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1442415761 16p11.2 16 33802776C> G null L V 5 5 missense 0.257 benign 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs545179920 16p11.2 16 33802784G> A null W * 7 7 2.0E-4 stop gained 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs780953969 16p11.2 16 33802782T> C null W R 7 7 missense 0.922 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs780953969 16p11.2 16 33802782T> A null W R 7 7 missense 0.922 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs748934750 16p11.2 16 33802791C> T null L F 10 10 missense 0.246 benign 0.05 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) TOPMed rs1312474532 16p11.2 16 33802792T> C null L P 10 10 missense 0.971 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs191538311 16p11.2 16 33802794G> T null V F 11 11 0.002796 missense 0.042 benign 0.1 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs773861261 16p11.2 16 33802798C> T null A V 12 12 missense 0.051 benign 0.1 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1260334090 16p11.2 16 33802802T> G null I M 13 13 missense 0.14 benign 0.04 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed rs769233597 16p11.2 16 33802800A> G null I V 13 13 missense 0.012 benign 0.2 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1181310668 16p11.2 16 33802806C> G null Q E 15 15 missense 0.001 benign 0.07 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs776984780 16p11.2 16 33802809G> A null G S 16 16 missense 0.749 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1263760976 16p11.2 16 33802916C> A null H N 18 18 missense 0.102 benign 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1447447005 16p11.2 16 33802917A> G null H R 18 18 missense 0.005 benign 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1263760976 16p11.2 16 33802916C> T null H Y 18 18 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs779443410 16p11.2 16 33802921T> G null C W 19 19 missense 0.987 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs770235688 16p11.2 16 33802924G> T null E D 20 20 missense 0.514 possibly damaging 0.11 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs746461879 16p11.2 16 33802922G> A null E K 20 20 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1384277293 16p11.2 16 33802926T> A null V E 21 21 missense 0.609 possibly damaging 0.1 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) TOPMed,gnomAD rs1378923279 16p11.2 16 33802925G> A null V M 21 21 missense 0.966 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs749718595 16p11.2 16 33802928C> T null Q * 22 22 stop gained 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs771389497 16p11.2 16 33802930G> T null Q H 22 22 missense 0.79 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs771389497 16p11.2 16 33802930G> C null Q H 22 22 missense 0.79 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1382105944 16p11.2 16 33802935T> G null V G 24 24 missense 0.949 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1453896196 16p11.2 16 33802941C> T null S F 26 26 missense 0.842 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) TOPMed,gnomAD rs1342601940 16p11.2 16 33802940T> C null S P 26 26 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1357648460 16p11.2 16 33802944G> A null G E 27 27 missense 0.691 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs775433691 16p11.2 16 33802943G> C null G R 27 27 missense 0.826 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs775433691 16p11.2 16 33802943G> A null G R 27 27 missense 0.826 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1357648460 16p11.2 16 33802944G> T null G V 27 27 missense 0.932 probably damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1242599178 16p11.2 16 33802947G> A null R K 28 28 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs529251493 16p11.2 16 33802950G> A null G D 29 29 2.0E-4 missense 0.141 benign 0.22 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs764038663 16p11.2 16 33802949G> A null G S 29 29 missense 0.562 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs373121054 16p11.2 16 33802955G> A null A T 31 31 2.0E-4 missense 0.017 benign 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs765007018 16p11.2 16 33802956C> T null A V 31 31 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1184035617 16p11.2 16 33802961C> T null P S 33 33 missense 0.892 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs565788901 16p11.2 16 33802965G> T null G V 34 34 2.0E-4 missense 0.849 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1351457801 16p11.2 16 33802967G> A null G R 35 35 missense 0.666 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs539537185 16p11.2 16 33802972C> A null Y * 36 36 0.002396 stop gained 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) TOPMed,gnomAD rs1278727294 16p11.2 16 33802973C> A null L I 37 37 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs757752492 16p11.2 16 33802974T> A null L Q 37 37 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1470507208 16p11.2 16 33802983C> T null S F 40 40 missense 0.821 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) TOPMed rs1272484499 16p11.2 16 33802982T> C null S P 40 40 missense 0.736 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs551606948 16p11.2 16 33802985G> C null G R 41 41 2.0E-4 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs551606948 16p11.2 16 33802985G> A null G S 41 41 2.0E-4 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs768720072 16p11.2 16 33802986G> T null G V 41 41 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs761755612 16p11.2 16 33802989C> A null A E 42 42 missense 0.176 benign 0.03 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs776611543 16p11.2 16 33802988G> A null A T 42 42 missense 0.185 benign 0.03 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1237037873 16p11.2 16 33802991G> A null A T 43 43 missense 0.912 probably damaging 0.03 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1207664139 16p11.2 16 33802992C> T null A V 43 43 missense 0.603 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1325513392 16p11.2 16 33802995C> T null S F 44 44 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1325513392 16p11.2 16 33802995C> A null S Y 44 44 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) TOPMed rs1375000379 16p11.2 16 33802998G> C null G A 45 45 missense 0.892 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs569893828 16p11.2 16 33803003A> G null T A 47 47 5.99E-4 missense 0.411 benign 0.04 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs762761255 16p11.2 16 33803004C> A null T N 47 47 missense 0.286 benign 0.04 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs751191772 16p11.2 16 33803006G> A null V I 48 48 missense 0.01 benign 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs181195022 16p11.2 16 33803009G> A null G S 49 49 0.003195 missense 0.003 benign 1.0 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs752196590 16p11.2 16 33803014C> A null S R 50 50 missense 0.092 benign 0.05 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1176368099 16p11.2 16 33803017G> A null W * 51 51 stop gained 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs555993073 16p11.2 16 33803015T> C null W R 51 51 2.0E-4 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs573580011 16p11.2 16 33803019A> G null Y C 52 52 0.001198 missense 0.811 possibly damaging 0.12 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1404317310 16p11.2 16 33803018T> C null Y H 52 52 missense 0.025 benign 0.39 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs573580011 16p11.2 16 33803019A> C null Y S 52 52 0.001198 missense 0.017 benign 0.34 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs768811850 16p11.2 16 33803023G> A null M I 53 53 missense 0.411 benign 0.03 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs747221604 16p11.2 16 33803022T> C null M T 53 53 missense 0.411 benign 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs377416183 16p11.2 16 33803021A> G null M V 53 53 missense 0.732 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1346255924 16p11.2 16 33803025G> A null S N 54 54 missense 0.003 benign 0.54 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs748186833 16p11.2 16 33803028G> A null W * 55 55 stop gained 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1447742631 16p11.2 16 33803029G> C null W C 55 55 missense 0.922 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs117555444 16p11.2 16 33803027T> C null W R 55 55 0.02316 missense 0.826 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs769746491 16p11.2 16 33803030A> T null I F 56 56 missense 0.027 benign 0.05 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs762698329 16p11.2 16 33803035C> A null H Q 57 57 missense 0.184 benign 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs773180057 16p11.2 16 33803033C> T null H Y 57 57 missense 0.255 benign 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1374304263 16p11.2 16 33803036C> T null Q * 58 58 stop gained 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs553116185 16p11.2 16 33803038G> C null Q H 58 58 2.0E-4 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1275361220 16p11.2 16 33803040C> A null A D 59 59 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs759274681 16p11.2 16 33803039G> C null A P 59 59 missense 0.47 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs759274681 16p11.2 16 33803039G> T null A S 59 59 missense 0.606 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1216952202 16p11.2 16 33803043C> T null P L 60 60 missense 0.763 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1480497953 16p11.2 16 33803045G> A null G R 61 61 missense 0.92 probably damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs752282510 16p11.2 16 33803051G> T null G C 63 63 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs752282510 16p11.2 16 33803051G> A null G S 63 63 missense 0.916 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs765709916 16p11.2 16 33803062G> T null W C 66 66 missense 0.653 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1372882012 16p11.2 16 33803060T> C null W R 66 66 missense 0.757 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs755633518 16p11.2 16 33803061G> C null W S 66 66 missense 0.766 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs750909285 16p11.2 16 33803067C> T null S L 68 68 missense 0.92 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1366236968 16p11.2 16 33803066T> A null S T 68 68 missense 0.411 benign 0.07 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1302454788 16p11.2 16 33803076G> A null S N 71 71 missense 0.024 benign 0.71 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) Ensembl rs374808961 16p11.2 16 33803078A> C null S R 72 72 missense 0.1 benign 0.31 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs758750259 16p11.2 16 33803081A> T null S C 73 73 missense 0.777 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs758750259 16p11.2 16 33803081A> G null S G 73 73 missense 0.007 benign 0.47 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1295962062 16p11.2 16 33803085G> C null G A 74 74 missense 0.393 benign 0.06 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) Ensembl rs753763099 16p11.2 16 33803087T> G null C G 75 75 missense 0.0 benign 0.94 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs545118657 16p11.2 16 33803088G> A null C Y 75 75 3.99E-4 missense 0.001 benign 0.25 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1224743791 16p11.2 16 33803091G> T null S I 76 76 missense 0.062 benign 0.04 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1293547428 16p11.2 16 33803092C> A null S R 76 76 missense 0.062 benign 0.03 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs755228114 16p11.2 16 33803096A> G null N D 78 78 missense 0.017 benign 0.09 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) Ensembl rs1567253017 16p11.2 16 33803100A> T null Y F 79 79 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs748276989 16p11.2 16 33803102G> A null A T 80 80 missense 0.411 benign 0.08 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) Ensembl rs1567253021 16p11.2 16 33803103C> T null A V 80 80 missense 0.411 benign 0.03 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs563500501 16p11.2 16 33803106A> T null D V 81 81 2.0E-4 missense 0.86 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs777636270 16p11.2 16 33803109C> T null S F 82 82 missense 0.497 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs770715619 16p11.2 16 33803116G> T null K N 84 84 missense 0.736 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1386155485 16p11.2 16 33803118G> A null G D 85 85 missense 0.892 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1165680242 16p11.2 16 33803117G> A null G S 85 85 missense 0.995 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs774199500 16p11.2 16 33803121G> A null R K 86 86 missense 0.624 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs774199500 16p11.2 16 33803121G> C null R T 86 86 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC rs759360414 16p11.2 16 33803123T> C null F L 87 87 missense 0.691 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs141069246 16p11.2 16 33803124T> C null F S 87 87 0.001398 missense 0.932 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs775258106 16p11.2 16 33803129A> G null I V 89 89 missense 0.582 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1432754467 16p11.2 16 33803136C> T null T I 91 91 missense 0.017 benign 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs763649542 16p11.2 16 33803140C> G null D E 92 92 missense 0.481 possibly damaging 0.06 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs763524850 16p11.2 16 33803147A> G null K E 95 95 missense 0.506 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) TOPMed,gnomAD rs1359794212 16p11.2 16 33803151A> G null N S 96 96 missense 0.582 possibly damaging 0.1 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) TOPMed,gnomAD rs1359794212 16p11.2 16 33803151A> C null N T 96 96 missense 0.974 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs751944114 16p11.2 16 33803153A> G null T A 97 97 missense 0.212 benign 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs561207373 16p11.2 16 33803154C> T null T M 97 97 2.0E-4 missense 0.233 benign 0.2 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs756204199 16p11.2 16 33803156C> T null L F 98 98 missense 0.991 probably damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs756204199 16p11.2 16 33803156C> G null L V 98 98 missense 0.603 possibly damaging 0.05 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs777919712 16p11.2 16 33803159T> C null Y H 99 99 missense 0.497 possibly damaging 0.05 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1185878567 16p11.2 16 33803165C> T null Q * 101 101 stop gained 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1244133165 16p11.2 16 33803170G> T null M I 102 102 missense 0.624 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs547728660 16p11.2 16 33803175G> A null S N 104 104 3.99E-4 missense 0.21 benign 0.15 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs778944587 16p11.2 16 33803176C> G null S R 104 104 missense 0.497 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs775348285 16p11.2 16 33803180A> G null R G 106 106 missense 0.379 benign 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs760390553 16p11.2 16 33803181G> T null R I 106 106 missense 0.71 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs760390553 16p11.2 16 33803181G> C null R T 106 106 missense 0.411 benign 0.05 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs559319903 16p11.2 16 33803190A> G null D G 109 109 2.0E-4 missense 0.603 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs768128091 16p11.2 16 33803189G> A null D N 109 109 missense 0.763 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs761179923 16p11.2 16 33803192A> G null T A 110 110 missense 0.606 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs766962205 16p11.2 16 33803193C> T null T M 110 110 missense 0.739 possibly damaging 0.08 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs752999312 16p11.2 16 33803196C> A null A D 111 111 missense 0.887 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs752999312 16p11.2 16 33803196C> G null A G 111 111 missense 0.773 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs767852705 16p11.2 16 33803195G> A null A T 111 111 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs752999312 16p11.2 16 33803196C> T null A V 111 111 missense 0.826 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) gnomAD rs1340536735 16p11.2 16 33803199T> A null V E 112 112 missense 0.325 benign 0.02 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs533278760 16p11.2 16 33803198G> T null V L 112 112 2.0E-4 missense 0.071 benign 0.25 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs533278760 16p11.2 16 33803198G> A null V M 112 112 2.0E-4 missense 0.382 benign 0.25 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs753973537 16p11.2 16 33803202A> G null Y C 113 113 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs757260906 16p11.2 16 33803208G> T null C F 115 115 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs757260906 16p11.2 16 33803208G> C null C S 115 115 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs757260906 16p11.2 16 33803208G> A null C Y 115 115 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs758355303 16p11.2 16 33803214G> A null R K 117 117 missense 0.157 benign 0.2 tolerated - low confidence 0 A0A075B7B8 IGHV3OR16-12 Immunoglobulin heavy variable 3/OR16-12 (non-functional) (Fragment) ExAC,gnomAD rs758355303 16p11.2 16 33803214G> C null R T 117 117 missense 0.956 probably damaging 0.0 deleterious - low confidence 0 A0A075B7B9 IGHD2OR15-2B Protein IGHD2OR15-2A (Fragment) ExAC,gnomAD rs761322597 15q11.1 15 20008431C> T null R K 1 1 missense 0.0 unknown 0 A0A075B7B9 IGHD2OR15-2B Protein IGHD2OR15-2A (Fragment) ExAC,TOPMed,gnomAD rs773909530 15q11.1 15 20008427T> C null I M 2 2 missense 0.0 unknown 0 A0A075B7B9 IGHD2OR15-2B Protein IGHD2OR15-2A (Fragment) TOPMed rs1202201037 15q11.2 15 21015068T> A null * L 4 4 stop lost 0 A0A075B7B9 IGHD2OR15-2B Protein IGHD2OR15-2A (Fragment) TOPMed rs1427887632 15q11.1 15 20008422T> A null * L 4 4 stop lost 0 A0A075B7B9 IGHD2OR15-2B Protein IGHD2OR15-2A (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs575539642 15q11.1 15 20008420A> C null * E 5 5 2.0E-4 stop lost 0 A0A075B7B9 IGHD2OR15-2B Protein IGHD2OR15-2A (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs575539642 15q11.1 15 20008420A> G null * Q 5 5 2.0E-4 stop lost 0 A0A075B7B9 IGHD2OR15-2B Protein IGHD2OR15-2A (Fragment) ExAC,TOPMed,gnomAD rs759560458 15q11.1 15 20008412G> T null Y * 7 7 stop gained 0 A0A075B7B9 IGHD2OR15-2B Protein IGHD2OR15-2A (Fragment) TOPMed rs1360809408 15q11.1 15 20008411A> G null F L 8 8 missense 0.0 unknown 0 A0A075B7B9 IGHD2OR15-2B Protein IGHD2OR15-2A (Fragment) ExAC,gnomAD rs770946570 15q11.1 15 20008405A> G null C R 10 10 missense 0.0 unknown 0 A0A075B7B9 IGHD2OR15-2B Protein IGHD2OR15-2A (Fragment) ExAC,gnomAD rs747064467 15q11.1 15 20008404C> G null C S 10 10 missense 0.0 unknown 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs913193741 19q13.12 19 36141160G> C null G A 1 1 missense 0.01 benign 0.0 deleterious - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs913193741 19q13.12 19 36141160G> A null G E 1 1 missense 0.479 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs913193741 19q13.12 19 36141160G> T null G V 1 1 missense 0.322 benign 0.0 deleterious - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1411816649 19q13.12 19 36141163G> A null G D 2 2 missense 0.088 benign 0.0 deleterious - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1168266744 19q13.12 19 36141166G> T null G V 3 3 missense 0.044 benign 0.0 deleterious - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1325571645 19q13.12 19 36141168G> A null G S 4 4 missense 0.034 benign 0.41 tolerated - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1204134347 19q13.12 19 36141171G> T null G C 5 5 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1257116909 19q13.12 19 36141172G> A null G D 5 5 missense 0.982 probably damaging 0.0 deleterious - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs377720678 19q13.12 19 36141175G> A null G D 6 6 missense 0.038 benign 0.01 deleterious - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1456180893 19q13.12 19 36141174G> A null G S 6 6 missense 0.001 benign 0.05 tolerated - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs756246194 19q13.12 19 36141178G> A null G E 7 7 missense 0.118 benign 0.31 tolerated - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs780223672 19q13.12 19 36141181C> A null T K 8 8 missense 0.781 possibly damaging 0.08 tolerated - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs780223672 19q13.12 19 36141181C> T null T M 8 8 missense 0.775 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs369741745 19q13.12 19 36141184C> A null A D 9 9 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) Ensembl rs1568390144 19q13.12 19 36141183G> A null A T 9 9 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs747945223 19q13.12 19 36141187T> G null M R 10 10 missense 0.962 probably damaging 0.39 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs779024915 19q13.12 19 36141186A> G null M V 10 10 missense 0.879 possibly damaging 0.03 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs771831657 19q13.12 19 36141189C> G null R G 11 11 missense 0.001 benign 0.2 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1408458055 19q13.12 19 36141190G> A null R H 11 11 missense 0.385 benign 0.1 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs771831657 19q13.12 19 36141189C> A null R S 11 11 missense 0.072 benign 0.1 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs773120912 19q13.12 19 36141192A> C null I L 12 12 missense 0.015 benign 0.92 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs746891128 19q13.12 19 36141196T> C null L P 13 13 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs770862577 19q13.12 19 36141199G> T null G V 14 14 missense 0.659 possibly damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1304090222 19q13.12 19 36141201G> T null G * 15 15 stop gained 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) Ensembl rs866758955 19q13.12 19 36141205T> C null V A 16 16 missense 0.275 benign 0.06 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs942843916 19q13.12 19 36141212C> G null S R 18 18 missense 0.462 possibly damaging 0.1 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs942843916 19q13.12 19 36141212C> A null S R 18 18 missense 0.462 possibly damaging 0.1 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs775042762 19q13.12 19 36141213G> A null A T 19 19 missense 0.242 benign 0.5 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs768047521 19q13.12 19 36141216A> G null I V 20 20 missense 0.036 benign 0.34 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1218750927 19q13.12 19 36141219A> G null S G 21 21 missense 0.001 benign 0.16 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1245270752 19q13.12 19 36142301G> A null E K 22 22 missense 0.174 benign 0.16 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1245270752 19q13.12 19 36142301G> C null E Q 22 22 missense 0.602 possibly damaging 0.01 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1178112136 19q13.12 19 36142304G> T null A S 23 23 missense 0.414 benign 0.25 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs774196517 19q13.12 19 36142307G> A null A T 24 24 missense 0.435 benign 0.24 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1455308135 19q13.12 19 36142308C> T null A V 24 24 missense 0.675 possibly damaging 0.18 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1159111926 19q13.12 19 36142310G> A null A T 25 25 missense 0.055 benign 0.21 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs761088700 19q13.12 19 36142311C> T null A V 25 25 missense 0.3 benign 0.1 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1338454475 19q13.12 19 36142314A> G null Q R 26 26 missense 0.079 benign 0.03 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs139109553 19q13.12 19 36142317A> G null Y C 27 27 missense 0.919 probably damaging 0.01 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs992834312 19q13.12 19 36142323C> T null P L 29 29 missense 0.019 benign 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs752673393 19q13.12 19 36142328C> A null P T 31 31 missense 0.837 possibly damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ExAC,gnomAD rs199916116 19q13.12 19 36142332C> T null P L 32 32 3.99E-4 missense 0.006 benign 0.14 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1309502809 19q13.12 19 36142652C> A null P T 33 33 missense 0.892 possibly damaging 0.01 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1291174391 19q13.12 19 36142655C> T null P S 34 34 missense 0.953 probably damaging 0.04 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs371312155 19q13.12 19 36142658C> T null R C 35 35 missense 0.975 probably damaging 0.05 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs866083785 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.12 19 36142659G> A null R H 35 35 missense 0.137 benign 0.11 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs371312155 19q13.12 19 36142658C> A null R S 35 35 missense 0.91 probably damaging 0.48 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs775851016 19q13.12 19 36142662C> T null T I 36 36 missense 0.468 possibly damaging 0.13 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1184572865 19q13.12 19 36142665A> C null H P 37 37 missense 0.905 possibly damaging 0.35 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1263523836 19q13.12 19 36142667T> G null Y D 38 38 missense 0.241 benign 0.16 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs560846443 19q13.12 19 36142668A> C null Y S 38 38 2.0E-4 missense 0.13 benign 0.31 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs202081010 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.12 19 36142671C> T null S F 39 39 0.007388 missense 0.895 possibly damaging 0.01 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs769151310 19q13.12 19 36142670T> C null S P 39 39 missense 0.604 possibly damaging 0.14 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs754720342 19q13.12 19 36142674A> T null N I 40 40 missense 0.292 benign 0.09 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs961562994 19q13.12 19 36142678T> G null I M 41 41 missense 0.19 benign 0.03 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs761900601 19q13.12 19 36142677T> C null I T 41 41 missense 0.001 benign 0.3 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs773523619 19q13.12 19 36142683C> A null A D 43 43 missense 0.447 possibly damaging 0.1 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,NCI-TCGA,gnomAD rs767610570 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.12 19 36142682G> A null A T 43 43 missense 0.156 benign 0.09 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs972968845 19q13.12 19 36142692G> A null S N 46 46 missense 0.493 possibly damaging 0.21 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs549840423 19q13.12 19 36142699G> C null E D 48 48 2.0E-4 missense 0.076 benign 0.06 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs977126502 19q13.12 19 36142706C> A null Q K 51 51 missense 0.127 benign 0.04 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs754928347 19q13.12 19 36142707A> C null Q P 51 51 missense 0.755 possibly damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374645485 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19q13.12 19 36142713G> A null R Q 53 53 missense 0.939 probably damaging 0.04 deleterious 1 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs765290273 19q13.12 19 36142712C> T null R W 53 53 missense 0.149 benign 0.07 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs935699381 19q13.12 19 36142718C> A null L I 55 55 missense 0.065 benign 0.68 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs777291107 19q13.12 19 36142724G> C null A P 57 57 missense 0.888 possibly damaging 0.13 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs777291107 19q13.12 19 36142724G> A null A T 57 57 missense 0.001 benign 0.38 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1240956320 19q13.12 19 36142733G> T null A S 60 60 missense 0.996 probably damaging 0.07 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs780325714 19q13.12 19 36142737G> C null G A 61 61 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs780325714 19q13.12 19 36142737G> A null G E 61 61 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs985422780 19q13.12 19 36142739G> C null D H 62 62 missense 0.775 possibly damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1354142497 19q13.12 19 36142912A> C null M L 64 64 missense 0.145 benign 0.04 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs780842861 19q13.12 19 36142913T> C null M T 64 64 missense 0.822 possibly damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs754177544 19q13.12 19 36142923C> A null S R 67 67 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1373988909 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.12 19 36142924G> A null A T 68 68 missense 0.762 possibly damaging 0.03 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs755375003 19q13.12 19 36142927A> G null T A 69 69 missense 0.009 benign 0.42 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) Ensembl rs10424687 19q13.12 19 36142933C> T null L F 71 71 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs748746397 19q13.12 19 36142943T> C null I T 74 74 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs140322191 19q13.12 19 36142942A> G null I V 74 74 missense 0.084 benign 0.31 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ExAC,gnomAD rs200941006 19q13.12 19 36142948A> C null N H 76 76 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1206023304 19q13.12 19 36142960A> G null T A 80 80 missense 0.485 possibly damaging 0.61 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1206023304 19q13.12 19 36142960A> T null T S 80 80 missense 0.746 possibly damaging 1.0 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs747083464 19q13.12 19 36142963C> T null R * 81 81 stop gained 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1199377988 19q13.12 19 36142964G> A null R Q 81 81 missense 0.17 benign 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,NCI-TCGA,gnomAD rs771258476 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.12 19 36142966C> T null H Y 82 82 missense 0.017 benign 0.06 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs62111391 19q13.12 19 36143066C> T null P S 83 83 2.0E-4 missense 0.402 benign 0.23 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs62111391 19q13.12 19 36143066C> A null P T 83 83 2.0E-4 missense 0.097 benign 0.13 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1240802817 19q13.12 19 36143070A> G null D G 84 84 missense 0.944 probably damaging 0.02 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1202414702 19q13.12 19 36143076A> C null K T 86 86 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC rs778193447 19q13.12 19 36143078A> G null T A 87 87 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1353099942 19q13.12 19 36143085G> A null G D 89 89 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1474569985 19q13.12 19 36143093A> G null I V 92 92 missense 0.018 benign 0.04 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs200391065 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.12 19 36143105C> T null R C 96 96 missense 0.25 benign 0.02 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1424161891 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.12 19 36143106G> A null R H 96 96 missense 0.323 benign 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs200391065 19q13.12 19 36143105C> A null R S 96 96 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs746032682 19q13.12 19 36143109G> A null S N 97 97 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1405832130 19q13.12 19 36143111A> T null M L 98 98 missense 0.946 probably damaging 0.02 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1405832130 19q13.12 19 36143111A> G null M V 98 98 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1317414199 19q13.12 19 36143115T> G null V G 99 99 missense 0.829 possibly damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs775310786 19q13.12 19 36143120G> A null V M 101 101 missense 0.669 possibly damaging 0.07 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1297948943 19q13.12 19 36143127A> G null D G 103 103 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs764310593 19q13.12 19 36145806A> G null S G 104 104 missense 0.059 benign 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs757803311 19q13.12 19 36145809G> A null D N 105 105 missense 0.916 probably damaging 0.02 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1222053130 19q13.12 19 36145812A> G null T A 106 106 missense 0.547 possibly damaging 0.13 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs377344213 19q13.12 19 36145813C> T null T I 106 106 missense 0.701 possibly damaging 0.05 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC rs750505623 19q13.12 19 36145816C> G null T R 107 107 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1195311314 19q13.12 19 36145833G> A null E K 113 113 missense 0.02 benign 0.29 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) Ensembl rs1568394040 19q13.12 19 36145844G> C null K N 116 116 missense 0.92 probably damaging 0.15 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1258880096 19q13.12 19 36145846A> G null Y C 117 117 missense 0.99 probably damaging 0.04 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs749529165 19q13.12 19 36145852G> C null W S 119 119 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs370009173 19q13.12 19 36145867G> C null R T 124 124 missense 0.107 benign 0.03 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs777676548 19q13.12 19 36145977C> G null A G 127 127 missense 0.0 benign 0.88 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1368794322 19q13.12 19 36145979A> G null I V 128 128 missense 0.005 benign 0.42 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs780531281 19q13.12 19 36145983A> T null Y F 129 129 missense 0.022 benign 1.0 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs770908586 19q13.12 19 36145982T> C null Y H 129 129 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs780531281 19q13.12 19 36145983A> C null Y S 129 129 missense 0.824 possibly damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,gnomAD rs370319793 19q13.12 19 36145989A> T null Q L 131 131 missense 0.051 benign 0.01 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373765626 19q13.12 19 36145993C> A null F L 132 132 2.0E-4 missense 0.007 benign 0.01 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373765626 19q13.12 19 36145993C> G null F L 132 132 2.0E-4 missense 0.007 benign 0.01 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1335312006 19q13.12 19 36145991T> G null F V 132 132 missense 0.285 benign 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs772620435 19q13.12 19 36145994G> A null D N 133 133 missense 0.951 probably damaging 0.03 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1361130309 19q13.12 19 36145997A> C null T P 134 134 missense 0.089 benign 0.18 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs148900101 cosmic curated [Cosmic]: large_intestine, [Cosmic]: pancreas pubmed:23204322,cosmic_study:328,cosmic_study:442 19q13.12 19 36146003C> T null R * 136 136 missense 1 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs148900101 19q13.12 19 36146003C> G null R G 136 136 missense 0.003 benign 0.15 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1265930074 19q13.12 19 36146004G> T null R L 136 136 missense 0.058 benign 0.06 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1265930074 19q13.12 19 36146004G> A null R Q 136 136 missense 0.075 benign 0.42 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1485453699 19q13.12 19 36146009G> A null G R 138 138 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs759700399 19q13.12 19 36146015A> T null I F 140 140 missense 0.444 benign 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs759700399 19q13.12 19 36146015A> G null I V 140 140 missense 0.167 benign 0.07 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs752972897 19q13.12 19 36146018T> A null C S 141 141 missense 0.0 benign 1.0 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs758630267 19q13.12 19 36146019G> A null C Y 141 141 missense 0.322 benign 0.02 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs777474498 19q13.12 19 36146021A> T null S C 142 142 missense 0.601 possibly damaging 0.02 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ExAC,gnomAD rs550791287 19q13.12 19 36146025G> C null S T 143 143 2.0E-4 missense 0.018 benign 0.26 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs757089152 19q13.12 19 36146034C> T null P L 146 146 missense 0.943 probably damaging 0.05 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) Ensembl rs1568394384 19q13.12 19 36146036G> A null G S 147 147 missense 0.816 possibly damaging 0.62 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs913673073 19q13.12 19 36146040C> A null A D 148 148 missense 0.078 benign 0.01 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs913673073 19q13.12 19 36146040C> T null A V 148 148 missense 0.141 benign 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1287420642 19q13.12 19 36146046A> C null E A 150 150 missense 0.521 possibly damaging 0.08 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes rs569284310 19q13.12 19 36146052C> G null A G 152 152 2.0E-4 missense 0.955 probably damaging 0.03 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs745343077 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.12 19 36146051G> A null A T 152 152 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1175683035 19q13.12 19 36146196G> A null G E 153 153 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs150977927 19q13.12 19 36146203C> G null H Q 155 155 missense 0.006 benign 0.51 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,TOPMed,gnomAD rs761502994 19q13.12 19 36146202A> G null H R 155 155 missense 0.001 benign 0.68 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs774705189 19q13.12 19 36146201C> T null H Y 155 155 missense 0.513 possibly damaging 0.04 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1484620249 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.12 19 36146214A> G null H R 159 159 missense 0.11 benign 0.06 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1279029244 19q13.12 19 36146219T> C null Y H 161 161 missense 0.888 possibly damaging 0.21 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs900385344 19q13.12 19 36146222A> G null N D 162 162 missense 0.003 benign 0.57 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs750191955 19q13.12 19 36146230C> G null I M 164 164 missense 0.101 benign 0.05 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs756080664 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.12 19 36146234C> T null R * 166 166 stop gained 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs766442447 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.12 19 36146235G> A null R Q 166 166 missense 0.915 probably damaging 0.14 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs374045231 19q13.12 19 36146237C> T null R C 167 167 missense 0.077 benign 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs116751999 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.12 19 36146238G> A null R H 167 167 2.0E-4 missense 0.036 benign 0.03 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1373060409 19q13.12 19 36146242C> G null Y * 168 168 stop gained 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1281081915 19q13.12 19 36146241A> C null Y S 168 168 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1369317208 19q13.12 19 36146248T> A null D E 170 170 missense 0.994 probably damaging 0.17 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) Ensembl rs529236977 19q13.12 19 36146247A> G null D G 170 170 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1219407174 19q13.12 19 36146249G> A null E K 171 171 missense 0.482 possibly damaging 0.18 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs778415980 19q13.12 19 36146250A> T null E V 171 171 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,gnomAD rs376339416 19q13.12 19 36146252A> G null S G 172 172 missense 0.0 benign 0.28 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes,ExAC,gnomAD rs556686100 19q13.12 19 36146253G> A null S N 172 172 2.0E-4 missense 0.0 benign 0.79 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1412251070 19q13.12 19 36146255G> A null G R 173 173 missense 0.994 probably damaging 0.23 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ESP,ExAC,TOPMed,dbSNP,gnomAD rs17878750 19q13.12 19 36146261A> G null M V 175 175 missense 0.006 benign 0.34 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1199173251 19q13.12 19 36146271A> G null D G 178 178 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1360956021 19q13.12 19 36146274A> G null N S 179 179 missense 0.995 probably damaging 0.41 tolerated 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) gnomAD rs1245305013 19q13.12 19 36146278C> G null F L 180 180 missense 0.488 possibly damaging 0.02 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) ExAC,gnomAD rs780575011 19q13.12 19 36146286G> A null C Y 183 183 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) 1000Genomes rs535788437 19q13.12 19 36150317C> T null Q * 186 186 3.99E-4 stop gained 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1275913089 19q13.12 19 36150320G> A null E K 187 187 missense 0.497 possibly damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1275913089 19q13.12 19 36150320G> C null E Q 187 187 missense 0.617 possibly damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) Ensembl rs911095171 19q13.12 19 36150323G> A null E K 188 188 missense 0.497 possibly damaging 0.0 deleterious 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1195948553 19q13.12 19 36150335C> T null P S 192 192 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed rs1479458608 19q13.12 19 36150338C> G null Q E 193 193 missense 0.0 benign 0.23 tolerated - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs1328184019 19q13.12 19 36150340G> C null Q H 193 193 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) TOPMed,gnomAD rs897003659 19q13.12 19 36150339A> T null Q L 193 193 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A075B7C0 CAPNS1 Calcium-activated neutral proteinase small subunit (Fragment) Ensembl rs112266426 19q13.12 19 36150348T> A null I N 196 196 missense 0.516 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1346740979 17q12 17 35844935A> G null S G 1 1 missense 0.0 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs376749338 17q12 17 35844936G> C null S T 1 1 missense 0.042 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs769906988 17q12 17 35844938G> A null G R 2 2 missense 0.068 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1431905192 17q12 17 35844941G> T null G C 3 3 missense 0.031 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202014042 17q12 17 35844945A> G null Y C 4 4 2.0E-4 missense 0.001 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202014042 17q12 17 35844945A> C null Y S 4 4 2.0E-4 missense 0.075 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1381753101 17q12 17 35844955C> A null D E 7 7 missense 0.033 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs772041521 17q12 17 35844960G> A null S N 9 9 missense 0.075 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1173401777 17q12 17 35844962G> C null G R 10 10 missense 0.398 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs760451686 17q12 17 35844965G> A null G S 11 11 missense 0.055 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs753799125 17q12 17 35844968G> A null G S 12 12 missense 0.007 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1194886015 17q12 17 35844972A> G null Y C 13 13 missense 0.35 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1395938686 17q12 17 35844971T> C null Y H 13 13 missense 0.264 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1379894925 17q12 17 35844980G> A null D N 16 16 missense 0.01 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1415234000 17q12 17 35844983C> T null R * 17 17 stop gained 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs752394270 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844984G> A null R Q 17 17 missense 0.0 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed rs777362123 17q12 17 35844990G> C null G A 19 19 missense 0.117 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs1183298377 17q12 17 35844993G> A null G D 20 20 missense 0.015 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed rs757585810 17q12 17 35844998G> A null G R 22 22 missense 0.932 probably damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs781611311 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35845008G> A null R Q 25 25 missense 0.82 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,gnomAD rs201536163 17q12 17 35845011G> T null G V 26 26 2.0E-4 missense 0.876 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs746383433 17q12 17 35845017A> G null Y C 28 28 missense 0.723 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs769805184 17q12 17 35845025A> G null K E 31 31 missense 0.281 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs769805184 17q12 17 35845025A> C null K Q 31 31 missense 0.571 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1451355081 17q12 17 35845035G> A null G E 34 34 missense 0.466 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1189468986 17q12 17 35845038G> A null R K 35 35 missense 0.056 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1317089660 17q12 17 35864066C> G null S C 36 36 missense 0.0 unknown 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs928391011 17q12 17 35864069G> C null S T 37 37 missense 0.0 unknown 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1479135054 17q12 17 35864072G> A null C Y 38 38 missense 0.0 unknown 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1173307585 17q12 17 35864075C> T null S F 39 39 missense 0.0 unknown 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1413182673 17q12 17 35864078C> T null S L 40 40 missense 0.0 unknown 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1413182673 17q12 17 35864078C> G null S W 40 40 missense 0.0 unknown 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs950539501 17q12 17 35864080A> G null K E 41 41 missense 0.0 unknown 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1164579074 17q12 17 35864089A> G null R G 44 44 missense 0.0 unknown 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1399891327 17q12 17 35864098G> A null D N 47 47 missense 0.0 unknown 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1297069645 17q12 17 35864102G> A null G E 48 48 missense 0.0 unknown 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1324114754 17q12 17 35864104T> G null S A 49 49 missense 0.0 unknown 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs767322910 17q12 17 35864114C> T null T I 52 52 missense 0.027 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1184033466 17q12 17 35864122G> T null A S 55 55 missense 0.578 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1231856866 17q12 17 35864129C> T null S F 57 57 missense 0.692 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs926558397 17q12 17 35864135T> G null L R 59 59 missense 0.887 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs527572733 17q12 17 35864139T> A null D E 60 60 0.001597 missense 0.631 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1354350558 17q12 17 35864138A> G null D G 60 60 missense 0.737 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs779984972 17q12 17 35864144C> G null T S 62 62 missense 0.497 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs748810687 17q12 17 35864146C> T null R C 63 63 missense 0.0 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs182559425 17q12 17 35864147G> A null R H 63 63 2.0E-4 missense 0.01 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs182559425 17q12 17 35864147G> T null R L 63 63 2.0E-4 missense 0.0 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs778752382 17q12 17 35864149C> T null H Y 64 64 missense 0.3 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs771806415 17q12 17 35864152C> T null P S 65 65 missense 0.81 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1381259091 17q12 17 35864159C> T null T I 67 67 missense 0.711 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs773449694 17q12 17 35864162C> T null P L 68 68 missense 0.0 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1157314297 17q12 17 35864165G> A null G E 69 69 missense 0.0 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs777190120 17q12 17 35864168G> A null S N 70 70 missense 0.393 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1323610348 17q12 17 35864169C> A null S R 70 70 missense 0.514 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1330182414 17q12 17 35864170C> T null L F 71 71 missense 0.773 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs761258270 17q12 17 35864173G> A null V I 72 72 missense 0.205 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs763194855 17q12 17 35864191C> G null H D 78 78 missense 0.412 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs998975366 17q12 17 35864193C> G null H Q 78 78 missense 0.412 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs766296584 17q12 17 35864202C> A null D E 81 81 missense 0.631 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs750200133 17q12 17 35864200G> C null D H 81 81 missense 0.937 probably damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs750200133 17q12 17 35864200G> T null D Y 81 81 missense 0.937 probably damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1408610761 17q12 17 35864219C> T null P L 87 87 missense 0.856 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs754588047 17q12 17 35864218C> T null P S 87 87 missense 0.81 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1239179279 17q12 17 35864222A> G null E G 88 88 missense 0.617 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1439541617 17q12 17 35864224C> T null L F 89 89 missense 0.773 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs752184412 17q12 17 35864225T> C null L P 89 89 missense 0.887 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1053280776 17q12 17 35864231A> T null Q L 91 91 missense 0.151 benign 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs758134448 17q12 17 35864243C> T null S L 95 95 missense 0.514 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1408653433 17q12 17 35864246C> T null P L 96 96 missense 0.856 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs893335233 17q12 17 35864245C> T null P S 96 96 missense 0.81 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs777466904 17q12 17 35864252C> G null A G 98 98 missense 0.578 possibly damaging 0 A0A075B7C1 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs1049314175 17q12 17 35864260C> T null P S 101 101 missense 0.81 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602047 17q12 17 35763983C> A null C * 4 4 stop gained 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782623133 17q12 17 35764003G> A null R H 11 11 missense 0.711 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602058 17q12 17 35764002C> A null R S 11 11 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782223488 17q12 17 35764006G> A null R K 12 12 missense 0.146 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602060 17q12 17 35764007G> T null R S 12 12 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602062 17q12 17 35764009G> A null C Y 13 13 missense 0.598 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602064 17q12 17 35764016C> A null D E 15 15 missense 0.631 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602066 17q12 17 35764018C> T null P L 16 16 missense 0.0 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1011228620 17q12 17 35764017C> T null P S 16 16 missense 0.0 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200805689 17q12 17 35764021T> A null L H 17 17 7.99E-4 missense 0.941 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200805689 17q12 17 35764021T> C null L P 17 17 7.99E-4 missense 0.887 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1331423762 17q12 17 35764024T> C null V A 18 18 missense 0.302 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1164833170 17q12 17 35764035A> T null N Y 22 22 missense 0.0 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1458183735 17q12 17 35764039G> A null G E 23 23 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602070 17q12 17 35764041A> G null R G 24 24 missense 0.3 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1379619211 17q12 17 35764048C> T null P L 26 26 missense 0.856 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602077 17q12 17 35764051G> A null G D 27 27 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ESP,ExAC,TOPMed,gnomAD rs372759641 17q12 17 35764050G> A null G S 27 27 missense 0.934 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782379593 17q12 17 35764053C> T null R * 28 28 stop gained 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602083 17q12 17 35764054G> T null R L 28 28 missense 0.005 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1179299013 17q12 17 35764057G> A null G E 29 29 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602084 17q12 17 35764056G> A null G R 29 29 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4795087 17q12 17 35764059C> G null R G 30 30 0.3365 missense 0.0 unknown 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4795087 17q12 17 35764059C> A null R S 30 30 0.3365 missense 0.0 unknown 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602093 17q12 17 35764062G> A null G R 31 31 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1212043204 17q12 17 35764065G> A null A T 32 32 missense 0.001 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs950878139 17q12 17 35764069G> A null R K 33 33 missense 0.146 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602101 17q12 17 35764071G> A null G R 34 34 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602102 17q12 17 35764076G> C null R S 35 35 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602102 17q12 17 35764076G> T null R S 35 35 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602103 17q12 17 35764078A> G null E G 36 36 missense 0.617 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs983590470 17q12 17 35764080G> A null G R 37 37 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782341898 17q12 17 35764087T> C null V A 39 39 missense 0.302 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs782414267 17q12 17 35764086G> T null V F 39 39 missense 0.617 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782341898 17q12 17 35764087T> G null V G 39 39 missense 0.514 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs782414267 17q12 17 35764086G> A null V I 39 39 missense 0.205 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1329025811 17q12 17 35764089G> C null G R 40 40 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ESP,ExAC,TOPMed,gnomAD rs199800640 17q12 17 35764093G> A null G E 41 41 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602113 17q12 17 35764092G> A null G R 41 41 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ExAC,gnomAD rs587685999 17q12 17 35764096G> A null R Q 42 42 2.0E-4 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1359726690 17q12 17 35764098G> C null G R 43 43 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781887858 17q12 17 35764102G> C null R P 44 44 missense 0.516 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781887858 17q12 17 35764102G> A null R Q 44 44 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602123 17q12 17 35764105G> A null G E 45 45 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140052043 17q12 17 35764111C> A null P Q 47 47 0.008586 missense 0.908 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ESP,ExAC,TOPMed,gnomAD rs375106365 17q12 17 35764110C> T null P S 47 47 missense 0.81 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1245210864 17q12 17 35764117C> T null A V 49 49 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782590163 17q12 17 35764119G> T null A S 50 50 missense 0.578 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782590163 17q12 17 35764119G> A null A T 50 50 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ExAC,TOPMed,gnomAD rs587615945 17q12 17 35764120C> T null A V 50 50 2.0E-4 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs1051456932 17q12 17 35764123G> A null G E 51 51 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782559389 17q12 17 35764125G> T null G * 52 52 missense 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782559389 17q12 17 35764125G> A null G R 52 52 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1214867492 17q12 17 35764131C> G null R G 54 54 missense 0.3 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs891023689 17q12 17 35764137G> T null G * 56 56 stop gained 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs891023689 17q12 17 35764137G> A null G R 56 56 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,gnomAD rs587715530 17q12 17 35764141G> A null G E 57 57 2.0E-4 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602142 17q12 17 35764140G> T null G W 57 57 missense 0.985 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs760773678 17q12 17 35764144G> A null R Q 58 58 missense 0.0 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1276091316 17q12 17 35764147G> A null G E 59 59 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1342187031 17q12 17 35764146G> A null G R 59 59 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1436836249 17q12 17 35764150C> T null A V 60 60 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602151 17q12 17 35764159G> A null G D 63 63 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs892924759 17q12 17 35764165G> A null G E 65 65 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782653090 17q12 17 35764170G> C null G R 67 67 missense 0.0 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602156 17q12 17 35764173C> T null R * 68 68 stop gained 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs970129645 17q12 17 35764183G> A null R Q 71 71 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602160 17q12 17 35764185G> A null A T 72 72 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602166 17q12 17 35764189C> T null A V 73 73 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs768573818 17q12 17 35764194A> G null S G 75 75 missense 0.302 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs768573818 17q12 17 35764194A> C null S R 75 75 missense 0.514 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367574463 17q12 17 35764196T> G null S R 75 75 7.99E-4 missense 0.514 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs868938042 17q12 17 35764195G> C null S T 75 75 missense 0.302 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602176 17q12 17 35764197G> A null V I 76 76 missense 0.205 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs782108790 17q12 17 35764201T> A null L Q 77 77 missense 0.887 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602180 17q12 17 35764209G> A null A T 80 80 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602181 17q12 17 35764213C> A null A E 81 81 missense 0.773 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1489436865 17q12 17 35764218G> C null G R 83 83 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1489436865 17q12 17 35764218G> A null G R 83 83 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1243213308 17q12 17 35764219G> T null G V 83 83 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1210100745 17q12 17 35764222T> G null V G 84 84 missense 0.514 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1223563632 17q12 17 35764226G> C null Q H 85 85 missense 0.398 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1280173310 17q12 17 35764225A> G null Q R 85 85 missense 0.151 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602190 17q12 17 35764231C> T null P L 87 87 missense 0.856 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602192 17q12 17 35764236G> C null G R 89 89 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs983643472 17q12 17 35764239G> A null G S 90 90 missense 0.934 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602194 17q12 17 35764248G> A null A T 93 93 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602197 17q12 17 35764251G> A null A T 94 94 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes rs587651311 17q12 17 35764252C> T null A V 94 94 3.99E-4 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,TOPMed rs587712883 17q12 17 35764260C> T null Q * 97 97 2.0E-4 stop gained 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,TOPMed rs587712883 17q12 17 35764260C> A null Q K 97 97 2.0E-4 missense 0.095 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781885065 17q12 17 35764264G> A null R Q 98 98 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602204 17q12 17 35764263C> T null R W 98 98 missense 0.833 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1445822369 17q12 17 35764270T> C null L P 100 100 missense 0.887 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs975241023 17q12 17 35764273G> A null G E 101 101 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,gnomAD rs587606861 17q12 17 35764272G> C null G R 101 101 2.0E-4 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs975241023 17q12 17 35764273G> T null G V 101 101 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs777220968 17q12 17 35764275C> G null L V 102 102 missense 0.578 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602210 17q12 17 35764278G> T null A S 103 103 missense 0.578 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs922001775 17q12 17 35764281C> G null R G 104 104 missense 0.3 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782308149 17q12 17 35764282G> C null R P 104 104 missense 0.516 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782308149 17q12 17 35764282G> A null R Q 104 104 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs922001775 17q12 17 35764281C> T null R W 104 104 missense 0.833 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs1568122582 17q12 17 35764284C> T null P S 105 105 missense 0.81 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs377339369 17q12 17 35764287C> T null L F 106 106 missense 0.773 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1168720920 17q12 17 35764291G> T null S I 107 107 missense 0.006 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1478916624 17q12 17 35764292C> A null S R 107 107 missense 0.001 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1478916624 17q12 17 35764292C> G null S R 107 107 missense 0.001 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602217 17q12 17 35764297C> T null A V 109 109 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs782246248 17q12 17 35764299G> C null G R 110 110 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs782246248 17q12 17 35764299G> A null G R 110 110 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602224 17q12 17 35764302C> G null R G 111 111 missense 0.3 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1051742578 17q12 17 35764303G> T null R L 111 111 missense 0.3 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1051742578 17q12 17 35764303G> A null R Q 111 111 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782278591 17q12 17 35764306C> T null P L 112 112 missense 0.204 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1200206145 17q12 17 35764308A> C null N H 113 113 missense 0.0 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602231 17q12 17 35764311A> G null S G 114 114 missense 0.0 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs934563023 17q12 17 35764312G> C null S T 114 114 missense 0.01 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1311796984 17q12 17 35764315C> G null S C 115 115 missense 0.848 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1226378865 17q12 17 35764317C> T null H Y 116 116 missense 0.097 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145033564 17q12 17 35764321G> C null R P 117 117 0.007987 missense 0.199 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145033564 17q12 17 35764321G> A null R Q 117 117 0.007987 missense 0.003 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1419111218 17q12 17 35764436C> T null P L 122 122 missense 0.0 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ExAC,TOPMed,gnomAD rs587726013 17q12 17 35764438C> G null P A 123 123 7.99E-4 missense 0.737 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602323 17q12 17 35764439C> G null P R 123 123 missense 0.908 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ExAC,TOPMed,gnomAD rs587726013 17q12 17 35764438C> T null P S 123 123 7.99E-4 missense 0.81 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC rs782362486 17q12 17 35764441G> A null G R 124 124 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs923933764 17q12 17 35764445G> A null G E 125 125 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602334 17q12 17 35764453C> T null R C 128 128 missense 0.833 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782310517 17q12 17 35764454G> A null R H 128 128 missense 0.711 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782310517 17q12 17 35764454G> C null R P 128 128 missense 0.516 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ESP,TOPMed,gnomAD rs373896097 17q12 17 35764456G> C null A P 129 129 missense 0.099 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ESP,TOPMed,gnomAD rs373896097 17q12 17 35764456G> A null A T 129 129 missense 0.007 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602343 17q12 17 35764462G> A null D N 131 131 missense 0.737 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ExAC,gnomAD rs587628047 17q12 17 35764463A> T null D V 131 131 3.99E-4 missense 0.908 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602350 17q12 17 35764466C> G null P R 132 132 missense 0.908 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602348 17q12 17 35764465C> T null P S 132 132 missense 0.81 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602353 17q12 17 35764469C> T null A V 133 133 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602356 17q12 17 35764472C> T null T M 134 134 missense 0.895 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,TOPMed,gnomAD rs587655331 17q12 17 35764475C> T null T I 135 135 2.0E-4 missense 0.711 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,TOPMed,gnomAD rs587655331 17q12 17 35764475C> G null T S 135 135 2.0E-4 missense 0.497 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs781965737 17q12 17 35764481C> T null A V 137 137 missense 0.691 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782075768 17q12 17 35764484C> T null P L 138 138 missense 0.856 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782075768 17q12 17 35764484C> G null P R 138 138 missense 0.908 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1217759930 17q12 17 35764483C> T null P S 138 138 missense 0.81 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1359220888 17q12 17 35764487G> A null R Q 139 139 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs781787644 17q12 17 35764493T> A null L Q 141 141 missense 0.887 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1300517952 17q12 17 35764495T> C null C R 142 142 missense 0.598 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs1568123451 17q12 17 35764504C> T null R * 145 145 stop gained 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602382 17q12 17 35764505G> A null R Q 145 145 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs1555602387 17q12 17 35764505_35764506delinsA G null R Q 145 145 missense 0.412 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781874321 17q12 17 35764511C> A null P H 147 147 missense 0.952 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782699645 17q12 17 35764510C> T null P S 147 147 missense 0.81 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1434594604 17q12 17 35764516C> A null L M 149 149 missense 0.826 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782505958 17q12 17 35764517T> C null L P 149 149 missense 0.887 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1429493643 17q12 17 35764526T> G null M R 152 152 missense 0.095 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782620462 17q12 17 35764528C> T null Q * 153 153 stop gained 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782620462 17q12 17 35764528C> A null Q K 153 153 missense 0.095 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1192703901 17q12 17 35764529A> T null Q L 153 153 missense 0.151 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1192703901 17q12 17 35764529A> C null Q P 153 153 missense 0.302 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781829396 17q12 17 35764531G> A null E K 154 154 missense 0.497 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781829396 17q12 17 35764531G> C null E Q 154 154 missense 0.617 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782583639 17q12 17 35764544C> G null P R 158 158 missense 0.908 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782298592 17q12 17 35764546C> T null P S 159 159 missense 0.27 benign 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602406 17q12 17 35764552C> G null L V 161 161 missense 0.578 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602410 17q12 17 35764556G> T null C F 162 162 missense 0.516 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602414 17q12 17 35764567C> T null R C 166 166 missense 0.833 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ESP,ExAC,TOPMed,gnomAD rs371809143 17q12 17 35764574G> C null G A 168 168 missense 0.902 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782225352 17q12 17 35764577C> T null S L 169 169 missense 0.514 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782341306 17q12 17 35764579C> G null P A 170 170 missense 0.737 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1208089126 17q12 17 35764580C> A null P H 170 170 missense 0.952 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1208089126 17q12 17 35764580C> T null P L 170 170 missense 0.856 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782341306 17q12 17 35764579C> T null P S 170 170 missense 0.81 possibly damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1325959127 17q12 17 35764583G> A null G E 171 171 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs372143156 17q12 17 35764582G> A null G R 171 171 missense 0.98 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782412502 17q12 17 35764589G> A null G E 173 173 missense 0.97 probably damaging 0 A0A075B7C2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782412502 17q12 17 35764589G> T null G V 173 173 missense 0.98 probably damaging 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1250555152 1q32.1 1 206473233G> C null Q H 2 2 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1315790995 1q32.1 1 206473232A> G null Q R 2 2 missense 0.205 benign 1.0 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1233452347 1q32.1 1 206473235G> A null S N 3 3 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1332453725 1q32.1 1 206473241C> A null A D 5 5 missense 0.265 benign 0.52 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782638358 1q32.1 1 206473240G> A null A T 5 5 missense 0.006 benign 0.77 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1332453725 1q32.1 1 206473241C> T null A V 5 5 missense 0.001 benign 0.37 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782299835 1q32.1 1 206473254G> T null W C 9 9 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) Ensembl rs1553384268 1q32.1 1 206473258A> G null T A 11 11 missense 0.872 possibly damaging 0.3 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384271 1q32.1 1 206473261G> C null D H 12 12 missense 0.992 probably damaging 0.05 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs771328607 1q32.1 1 206473266C> A null D E 13 13 missense 0.958 probably damaging 0.16 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782356770 1q32.1 1 206473273G> A null G R 16 16 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1439475051 1q32.1 1 206473280G> A null G E 18 18 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384294 1q32.1 1 206473303G> T null A S 26 26 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384294 1q32.1 1 206473303G> A null A T 26 26 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384299 1q32.1 1 206473304C> T null A V 26 26 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1396141437 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206473306C> T null R C 27 27 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384304 1q32.1 1 206473307G> A null R H 27 27 missense 1.0 probably damaging 0.05 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1173541599 1q32.1 1 206473314G> T null K N 29 29 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384574 1q32.1 1 206474331A> C null K Q 30 30 missense 0.988 probably damaging 0.04 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384578 1q32.1 1 206474335C> G null S C 31 31 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384578 1q32.1 1 206474335C> A null S Y 31 31 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs549538401 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474337G> A null G R 32 32 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1254928806 1q32.1 1 206474344T> G null L R 34 34 missense 0.958 probably damaging 0.56 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ESP,TOPMed,gnomAD rs139083235 1q32.1 1 206474343C> G null L V 34 34 missense 0.2 benign 0.44 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1186805906 1q32.1 1 206474346G> C null V L 35 35 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs781957364 1q32.1 1 206474352G> A null V M 37 37 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1447034305 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474367A> G null T A 42 42 missense 0.018 benign 0.23 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1285749873 1q32.1 1 206474370A> G null T A 43 43 missense 0.0 benign 0.69 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782264666 1q32.1 1 206474377A> T null Y F 45 45 missense 0.974 probably damaging 0.39 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384595 1q32.1 1 206474380T> C null L P 46 46 missense 0.903 possibly damaging 0.04 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs56035621 1q32.1 1 206474379C> G null L V 46 46 3.99E-4 missense 0.403 benign 0.1 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs781921697 1q32.1 1 206474383G> A null R Q 47 47 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367771392 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474382C> T null R W 47 47 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782098949 1q32.1 1 206474385C> A null P T 48 48 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143140330 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474388C> T null R C 49 49 missense 0.809 possibly damaging 0.17 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150428746 1q32.1 1 206474389G> A null R H 49 49 missense 0.003 benign 0.55 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150428746 1q32.1 1 206474389G> T null R L 49 49 missense 0.005 benign 0.66 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs782440026 1q32.1 1 206474391G> A null E K 50 50 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs782219958 1q32.1 1 206474400G> A null V M 53 53 missense 0.047 benign 1.0 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1462772133 1q32.1 1 206474406G> A null E K 55 55 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) Ensembl rs903641024 1q32.1 1 206474411T> G null F L 56 56 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs782640857 1q32.1 1 206474422G> A null R Q 60 60 missense 0.806 possibly damaging 0.1 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs782526732 1q32.1 1 206474421C> T null R W 60 60 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1254120155 1q32.1 1 206474437A> G null Q R 65 65 missense 0.259 benign 0.19 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) Ensembl rs56278223 1q32.1 1 206474442A> G null I V 67 67 missense 0.186 benign 0.16 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs781937364 1q32.1 1 206474445G> A null V I 68 68 missense 0.047 benign 0.19 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1219691632 1q32.1 1 206474449A> G null K R 69 69 missense 0.583 possibly damaging 0.21 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs201577746 1q32.1 1 206474457G> A null A T 72 72 missense 0.581 possibly damaging 0.1 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782361671 1q32.1 1 206474458C> T null A V 72 72 missense 0.955 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ESP,ExAC,TOPMed,gnomAD rs372072572 1q32.1 1 206474460G> T null V L 73 73 missense 0.998 probably damaging 0.1 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ESP,ExAC,TOPMed,gnomAD rs372072572 1q32.1 1 206474460G> A null V M 73 73 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs534317345 1q32.1 1 206474469A> G null T A 76 76 2.0E-4 missense 0.345 benign 0.09 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs554685342 1q32.1 1 206474470C> T null T M 76 76 2.0E-4 missense 0.249 benign 0.06 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs202128741 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474868G> A null G R 78 78 2.0E-4 missense 0.603 possibly damaging 0.5 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs782466362 1q32.1 1 206474875G> A null R Q 80 80 missense 0.034 benign 0.13 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149591181 1q32.1 1 206474874C> T null R W 80 80 3.99E-4 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384816 1q32.1 1 206474879G> C null Q H 81 81 missense 0.933 probably damaging 0.31 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs956532765 1q32.1 1 206474881A> G null K R 82 82 missense 0.393 benign 0.09 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1300049768 1q32.1 1 206474895G> T null E * 87 87 stop gained 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1370253843 1q32.1 1 206474898T> C null Y H 88 88 missense 0.511 possibly damaging 0.08 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1174339324 1q32.1 1 206474911G> A null G E 92 92 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384828 1q32.1 1 206474915C> A null S R 93 93 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384828 1q32.1 1 206474915C> G null S R 93 93 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1396790508 1q32.1 1 206474919C> A null L M 95 95 missense 0.984 probably damaging 0.13 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782184393 1q32.1 1 206474922A> G null S G 96 96 missense 0.799 possibly damaging 0.14 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ESP,ExAC,gnomAD rs372489938 1q32.1 1 206474923G> C null S T 96 96 missense 0.151 benign 0.81 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs917655681 1q32.1 1 206474931G> A null E K 99 99 missense 0.957 probably damaging 0.01 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384847 1q32.1 1 206474943A> G null N D 103 103 missense 0.908 possibly damaging 0.02 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,NCI-TCGA rs782265859 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474946G> A null A T 104 104 missense 0.094 benign 0.37 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782028061 1q32.1 1 206474950T> G null F C 105 105 missense 0.983 probably damaging 0.16 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) Ensembl rs949192935 1q32.1 1 206474955C> A null L M 107 107 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782092694 1q32.1 1 206474959C> G null P R 108 108 missense 0.845 possibly damaging 0.09 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs781913394 1q32.1 1 206474958C> T null P S 108 108 missense 0.054 benign 0.34 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384881 1q32.1 1 206474962A> T null E V 109 109 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782723974 1q32.1 1 206474965A> G null D G 110 110 missense 0.05 benign 0.23 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1210947605 1q32.1 1 206474964G> A null D N 110 110 missense 0.003 benign 0.35 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) Ensembl rs1558473109 1q32.1 1 206474973C> G null L V 113 113 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1349445353 1q32.1 1 206474976G> A null V M 114 114 missense 0.878 possibly damaging 0.05 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384904 1q32.1 1 206474979G> T null V L 115 115 missense 0.335 benign 0.04 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,NCI-TCGA,gnomAD rs782549877 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474985C> T null R C 117 117 missense 0.873 possibly damaging 0.03 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55721947 1q32.1 1 206474986G> A null R H 117 117 2.0E-4 missense 0.011 benign 0.39 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55721947 1q32.1 1 206474986G> C null R P 117 117 2.0E-4 missense 0.708 possibly damaging 0.04 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553384909 1q32.1 1 206474988T> A null C S 118 118 missense 0.95 probably damaging 0.49 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1336670825 1q32.1 1 206474994G> C null V L 120 120 missense 0.559 possibly damaging 0.02 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs782627812 1q32.1 1 206476186G> A null G S 122 122 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs781928069 1q32.1 1 206476202G> T null R L 127 127 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs781928069 1q32.1 1 206476202G> A null R Q 127 127 missense 0.963 probably damaging 0.03 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ESP,ExAC,TOPMed,gnomAD rs370426628 1q32.1 1 206476201C> T null R W 127 127 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1186302502 1q32.1 1 206476205A> G null E G 128 128 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41296028 1q32.1 1 206476204G> A null E K 128 128 2.0E-4 missense 0.958 probably damaging 0.06 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782342986 1q32.1 1 206476207A> C null N H 129 129 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ESP,ExAC,TOPMed,gnomAD rs147688366 1q32.1 1 206476210G> A null G S 130 130 missense 0.974 probably damaging 0.09 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1207194500 1q32.1 1 206476216G> A null V M 132 132 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1464747771 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206476223G> A null R H 134 134 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs781888555 1q32.1 1 206476226A> C null D A 135 135 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1211870723 1q32.1 1 206476225G> A null D N 135 135 missense 0.6 possibly damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782067243 1q32.1 1 206476228A> T null I F 136 136 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs782697959 1q32.1 1 206476230C> G null I M 136 136 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) gnomAD rs1553385247 1q32.1 1 206476235C> T null P L 138 138 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,TOPMed,gnomAD rs782456876 1q32.1 1 206476238G> C null G A 139 139 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1228295274 1q32.1 1 206476237G> T null G W 139 139 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed,gnomAD rs1432582527 1q32.1 1 206476240A> G null N D 140 140 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782543224 1q32.1 1 206476246A> G null M V 142 142 missense 0.892 possibly damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs139869900 1q32.1 1 206476250G> A null R H 143 143 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs139869900 1q32.1 1 206476250G> T null R L 143 143 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ExAC,gnomAD rs782588565 1q32.1 1 206476249C> A null R S 143 143 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ESP,ExAC,TOPMed,gnomAD rs373699027 1q32.1 1 206476255G> A null V I 145 145 missense 0.029 benign 1.0 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) ESP,ExAC,TOPMed,gnomAD rs373699027 1q32.1 1 206476255G> C null V L 145 145 missense 0.017 benign 0.26 tolerated 0 A0A075B7C7 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon (Fragment) TOPMed rs1392521256 1q32.1 1 206476259G> A null G E 146 146 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B7C8 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1219502828 1q32.1 1 206205989T> C null F L 7 7 missense 0.003 benign 1.0 tolerated 0 A0A075B7C8 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1399685727 1q32.1 1 206303289G> A null A T 26 26 missense 0.06 benign 0.54 tolerated 0 A0A075B7C8 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1421959976 1q32.1 1 206303452G> A null S N 80 80 missense 0.294 benign 0.15 tolerated 0 A0A075B7C8 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1477330577 1q32.1 1 206303462C> G null D E 83 83 missense 0.127 benign 1.0 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs774070976 15q11.2 15 22160864T> G null D A 2 2 missense 0.97 probably damaging 0.04 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs547242823 15q11.2 15 22160863G> C null D E 2 2 2.0E-4 missense 0.976 probably damaging 0.24 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs761520852 15q11.2 15 22160865C> G null D H 2 2 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs761520852 15q11.2 15 22160865C> T null D N 2 2 missense 0.984 probably damaging 0.05 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1335068634 15q11.2 15 22160861C> T null W * 3 3 stop gained 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs775433024 15q11.2 15 22160860C> T null W * 3 3 stop gained 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) Ensembl rs771178515 15q11.2 15 22160854C> T null W * 5 5 stop gained 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1272471906 15q11.2 15 22160852C> A null R M 6 6 missense 0.301 benign 0.06 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs745956549 15q11.2 15 22160849A> T null I N 7 7 missense 0.726 possibly damaging 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs757490548 15q11.2 15 22160839C> G null L F 10 10 missense 0.414 benign 0.03 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs747244559 15q11.2 15 22160838C> T null V M 11 11 missense 0.491 possibly damaging 0.17 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1452487042 15q11.2 15 22160834G> A null A V 12 12 missense 0.397 benign 0.06 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs778052175 15q11.2 15 22160832C> T null A T 13 13 missense 0.045 benign 0.2 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs545976497 15q11.2 15 22160823C> A null G C 16 16 2.0E-4 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) Ensembl rs868795462 15q11.2 15 22160732G> A null H Y 18 18 missense 0.072 benign 0.11 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs772428852 15q11.2 15 22160728G> A null S F 19 19 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs748378172 15q11.2 15 22160726G> C null Q E 20 20 missense 0.047 benign 0.33 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs769109794 15q11.2 15 22160724C> G null Q H 20 20 missense 0.3 benign 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs779466828 15q11.2 15 22160725T> G null Q P 20 20 missense 0.939 probably damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs780633664 15q11.2 15 22160713A> C null V G 24 24 missense 0.168 benign 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1220072089 15q11.2 15 22160707G> C null S C 26 26 missense 0.728 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1266899208 15q11.2 15 22160708A> G null S P 26 26 missense 0.619 possibly damaging 0.03 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) Ensembl rs1566788255 15q11.2 15 21718085A> T null S T 26 26 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs751081778 15q11.2 15 22160704C> T null G E 27 27 missense 0.537 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1484000509 15q11.2 15 22160705C> T null G R 27 27 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs758107277 15q11.2 15 22160702C> G null A P 28 28 missense 0.308 benign 0.26 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs183819940 15q11.2 15 22160699C> T null E K 29 29 3.99E-4 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs183819940 15q11.2 15 22160699C> G null E Q 29 29 3.99E-4 missense 0.57 possibly damaging 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1276303802 15q11.2 15 22160696C> A null V L 30 30 missense 0.118 benign 0.75 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs753527838 15q11.2 15 22160688C> G null K N 32 32 missense 0.168 benign 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1280814830 15q11.2 15 22160689T> C null K R 32 32 missense 0.168 benign 0.18 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1328562817 15q11.2 15 22160680G> T null A D 35 35 missense 0.165 benign 0.06 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs766354685 15q11.2 15 22160681C> G null A P 35 35 missense 0.916 probably damaging 0.04 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC rs760464891 15q11.2 15 22160674A> T null V E 37 37 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1342021126 15q11.2 15 22160675C> T null V M 37 37 missense 0.838 possibly damaging 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs557882751 15q11.2 15 22160671T> C null K R 38 38 2.0E-4 missense 0.246 benign 0.07 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs774744929 15q11.2 15 22160661G> T null C * 41 41 stop gained 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs762165556 15q11.2 15 22160662C> A null C F 41 41 missense 0.619 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) Ensembl rs1566849788 15q11.2 15 22160663A> G null C R 41 41 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs762165556 15q11.2 15 22160662C> T null C Y 41 41 missense 0.537 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1473527445 15q11.2 15 22160656G> T null A D 43 43 missense 0.168 benign 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs539167238 15q11.2 15 22160657C> A null A S 43 43 2.0E-4 missense 0.392 benign 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs539167238 15q11.2 15 22160657C> T null A T 43 43 2.0E-4 missense 0.259 benign 0.21 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1473527445 15q11.2 15 22160656G> A null A V 43 43 missense 0.11 benign 0.07 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) Ensembl rs1566788251 15q11.2 15 21718030G> A null S F 44 44 missense 0.529 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs780212465 15q11.2 15 22160654A> G null S P 44 44 missense 0.705 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs746345604 15q11.2 15 22160648A> G null Y H 46 46 missense 0.933 probably damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs746345604 15q11.2 15 22160648A> T null Y N 46 46 missense 0.119 benign 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1165372210 15q11.2 15 22160644A> G null I T 47 47 missense 0.0 benign 1.0 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs568897411 15q11.2 15 22160645T> C null I V 47 47 7.99E-4 missense 0.0 benign 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1322419383 15q11.2 15 22160640G> T null F L 48 48 missense 0.214 benign 0.06 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs370351815 15q11.2 15 22160638G> T null T N 49 49 missense 0.755 possibly damaging 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs535417353 15q11.2 15 22160636C> T null D N 50 50 2.0E-4 missense 0.0 benign 0.2 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs766084270 15q11.2 15 22160632T> A null Y F 51 51 missense 0.048 benign 0.03 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs753673286 15q11.2 15 22160633A> G null Y H 51 51 missense 0.03 benign 0.08 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs568805133 15q11.2 15 22160629T> C null Y C 52 52 0.01318 missense 0.013 benign 0.11 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) Ensembl rs112325308 15q11.2 15 22160625C> G null M I 53 53 missense 0.005 benign 0.46 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) Ensembl rs112325308 15q11.2 15 22160625C> T null M I 53 53 missense 0.005 benign 0.46 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs547303613 15q11.2 15 22160626A> C null M R 53 53 2.0E-4 missense 0.796 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs547303613 15q11.2 15 22160626A> G null M T 53 53 2.0E-4 missense 0.14 benign 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs767521478 15q11.2 15 22160627T> C null M V 53 53 missense 0.012 benign 0.08 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs774514276 15q11.2 15 22160624G> T null H N 54 54 missense 0.007 benign 0.28 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs764411700 15q11.2 15 22160623T> G null H P 54 54 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1457884094 15q11.2 15 22160622G> C null H Q 54 54 missense 0.022 benign 0.19 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1407386335 15q11.2 15 22160621A> T null W R 55 55 missense 0.798 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs763079159 15q11.2 15 22160615G> A null R * 57 57 stop gained 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs567345059 15q11.2 15 22160614C> A null R L 57 57 2.0E-4 missense 0.168 benign 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs567345059 15q11.2 15 22160614C> G null R P 57 57 2.0E-4 missense 0.235 benign 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs567345059 15q11.2 15 22160614C> T null R Q 57 57 2.0E-4 missense 0.125 benign 0.15 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs777155695 15q11.2 15 22160608G> T null A D 59 59 missense 0.93 probably damaging 0.03 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1225357282 15q11.2 15 22160609C> A null A S 59 59 missense 0.361 benign 0.24 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs777155695 15q11.2 15 22160608G> A null A V 59 59 missense 0.246 benign 0.07 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs747675704 15q11.2 15 22160605G> A null P L 60 60 missense 0.423 benign 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs754729723 15q11.2 15 22160599T> C null Q R 62 62 missense 0.168 benign 0.06 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs748882242 15q11.2 15 22160595C> A null E D 63 63 missense 0.0 benign 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1289544461 15q11.2 15 22160596T> C null E G 63 63 missense 0.0 benign 1.0 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs779937601 15q11.2 15 22160594G> C null L V 64 64 missense 0.861 possibly damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs755890509 15q11.2 15 22160590C> T null G E 65 65 missense 0.0 benign 1.0 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs750190872 15q11.2 15 22160581C> T null G E 68 68 missense 0.728 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1359140121 15q11.2 15 22160582C> T null G R 68 68 missense 0.619 possibly damaging 0.04 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs147028648 15q11.2 15 22160578C> T null R Q 69 69 0.02017 missense 0.005 benign 0.29 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs767572426 15q11.2 15 22160579G> A null R W 69 69 missense 0.0 benign 0.35 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs751755582 15q11.2 15 22160572T> C null N S 71 71 missense 0.005 benign 0.26 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs764254306 15q11.2 15 22160570G> A null P S 72 72 missense 0.176 benign 0.04 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1437034648 15q11.2 15 22160567T> C null N D 73 73 missense 0.003 benign 0.53 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1163949958 15q11.2 15 22160565G> T null N K 73 73 missense 0.003 benign 0.49 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1415959617 15q11.2 15 22160566T> C null N S 73 73 missense 0.001 benign 0.98 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs763282817 15q11.2 15 22160563C> T null S N 74 74 missense 0.0 benign 1.0 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1403835026 15q11.2 15 22160560C> T null G D 75 75 missense 0.076 benign 0.09 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs530925036 15q11.2 15 22160561C> T null G S 75 75 2.0E-4 missense 0.19 benign 0.1 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1160136817 15q11.2 15 22160558C> T null G S 76 76 missense 0.001 benign 0.97 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs759841655 15q11.2 15 22160554G> A null T I 77 77 missense 0.097 benign 0.04 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1472341625 15q11.2 15 22160555T> G null T P 77 77 missense 0.097 benign 0.15 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs759841655 15q11.2 15 22160554G> C null T R 77 77 missense 0.755 possibly damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1213114217 15q11.2 15 22160552T> G null N H 78 78 missense 0.013 benign 0.12 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1202248589 15q11.2 15 22160551T> C null N S 78 78 missense 0.005 benign 0.56 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1453798841 15q11.2 15 22160543G> T null Q K 81 81 missense 0.158 benign 0.04 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs771436821 15q11.2 15 22160538C> G null K N 82 82 missense 0.048 benign 0.08 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs771436821 15q11.2 15 22160538C> A null K N 82 82 missense 0.048 benign 0.08 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) TOPMed,gnomAD rs954441253 15q11.2 15 22160533T> G null Q P 84 84 missense 0.235 benign 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs773912371 15q11.2 15 22160530C> T null G D 85 85 missense 0.165 benign 0.09 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1207707978 15q11.2 15 22160528T> C null R G 86 86 missense 0.888 possibly damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1215326615 15q11.2 15 22160527C> T null R K 86 86 missense 0.216 benign 0.46 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1361598854 15q11.2 15 22160525C> A null V F 87 87 missense 0.168 benign 0.49 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1268489758 15q11.2 15 22160522T> C null T A 88 88 missense 0.109 benign 0.04 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1268489758 15q11.2 15 22160522T> A null T S 88 88 missense 0.08 benign 0.12 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1366296225 15q11.2 15 22160517C> T null M I 89 89 missense 0.003 benign 1.0 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs768031865 15q11.2 15 22160516T> C null T A 90 90 missense 0.361 benign 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs748789300 15q11.2 15 22160515G> T null T N 90 90 missense 0.903 possibly damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs755730694 15q11.2 15 22160512C> T null R K 91 91 missense 0.031 benign 0.53 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1418397170 15q11.2 15 22160508G> C null D E 92 92 missense 0.433 benign 0.05 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC rs781129561 15q11.2 15 22160510C> T null D N 92 92 missense 0.433 benign 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs757320554 15q11.2 15 22160506G> A null T M 93 93 missense 0.199 benign 0.1 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs777950648 15q11.2 15 22160503G> A null S F 94 94 missense 0.409 benign 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1490007871 15q11.2 15 22160499G> C null I M 95 95 missense 0.003 benign 0.15 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1389090809 15q11.2 15 22160500A> G null I T 95 95 missense 0.0 benign 0.86 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1199250075 15q11.2 15 22160501T> C null I V 95 95 missense 0.027 benign 0.31 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1456861659 15q11.2 15 22160497C> G null S T 96 96 missense 0.071 benign 0.08 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs752774169 15q11.2 15 22160494G> A null T I 97 97 missense 0.749 possibly damaging 0.03 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1277197377 15q11.2 15 22160495T> G null T P 97 97 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs752774169 15q11.2 15 22160494G> C null T R 97 97 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1386556748 15q11.2 15 22160491G> T null A D 98 98 missense 0.96 probably damaging 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1434278784 15q11.2 15 22160488T> C null Y C 99 99 missense 0.728 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs759692790 15q11.2 15 22160489A> C null Y D 99 99 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs759692790 15q11.2 15 22160489A> G null Y H 99 99 missense 0.728 possibly damaging 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs754271760 15q11.2 15 22160486T> C null T A 100 100 missense 0.01 benign 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs62007810 15q11.2 15 22160485G> A null T M 100 100 missense 0.0 benign 1.0 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs773736943 15q11.2 15 22160483C> A null E * 101 101 stop gained 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1249021784 15q11.2 15 22160481C> G null E D 101 101 missense 0.227 benign 0.06 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs541849181 15q11.2 15 22160467C> T null R K 106 106 0.002196 missense 0.11 benign 0.52 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs541849181 15q11.2 15 22160467C> G null R T 106 106 0.002196 missense 0.125 benign 0.81 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs762379853 15q11.2 15 22160462C> A null E * 108 108 stop gained 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1470756813 15q11.2 15 22160460C> G null E D 108 108 missense 0.017 benign 0.17 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs774995233 15q11.2 15 22160461T> A null E V 108 108 missense 0.676 possibly damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1198137450 15q11.2 15 22160457G> T null D E 109 109 missense 0.805 possibly damaging 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC rs745501181 15q11.2 15 22160458T> C null D G 109 109 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs769399497 15q11.2 15 22160459C> T null D N 109 109 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1479740881 15q11.2 15 22160456T> C null T A 110 110 missense 0.789 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs113961158 15q11.2 15 22160455G> A null T M 110 110 missense 0.51 possibly damaging 0.1 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs113961158 15q11.2 15 22160455G> C null T R 110 110 missense 0.903 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1480486964 15q11.2 15 22160452G> C null A G 111 111 missense 0.537 possibly damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) gnomAD rs1276497694 15q11.2 15 22160453C> T null A T 111 111 missense 0.669 possibly damaging 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs746763011 15q11.2 15 22160450T> C null T A 112 112 missense 0.01 benign 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs777595422 15q11.2 15 22160449G> T null T K 112 112 missense 0.039 benign 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs777595422 15q11.2 15 22160449G> A null T M 112 112 missense 0.003 benign 0.22 tolerated 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) ExAC,gnomAD rs779050280 15q11.2 15 22160444A> G null Y H 114 114 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs540135674 15q11.2 15 22160441A> C null C G 115 115 2.0E-4 missense 0.632 possibly damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs540135674 15q11.2 15 22160441A> T null C S 115 115 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) TOPMed,gnomAD rs922632566 15q11.2 15 22160440C> T null C Y 115 115 missense 0.632 possibly damaging 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs572756779 15q11.2 15 22160437G> T null A E 116 116 3.99E-4 missense 0.152 benign 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs572756779 15q11.2 15 22160437G> C null A G 116 116 3.99E-4 missense 0.067 benign 0.02 deleterious 0 A0A075B7D0 IGHV1OR15-1 Immunoglobulin heavy variable 1/OR15-1 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs572756779 15q11.2 15 22160437G> A null A V 116 116 3.99E-4 missense 0.067 benign 0.09 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1355709538 17q12 17 35868738G> T null A D 2 2 missense 0.007 benign 0.07 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1407486871 17q12 17 35868734A> T null Y * 3 3 stop gained 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77630516 17q12 17 35868735T> C null Y C 3 3 0.02536 missense 0.003 benign 0.2 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77630516 17q12 17 35868735T> A null Y F 3 3 0.02536 missense 0.005 benign 0.41 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1371786765 17q12 17 35868728T> G null K N 5 5 missense 0.011 benign 0.2 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs760695766 17q12 17 35868724T> C null T A 7 7 missense 0.0 benign 0.96 tolerated - low confidence 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1443386367 17q12 17 35868720T> C null D G 8 8 missense 0.003 benign 0.18 tolerated - low confidence 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs772814204 17q12 17 35868717A> G null I T 9 9 missense 0.009 benign 0.08 tolerated - low confidence 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1361575176 17q12 17 35868702C> G null R T 14 14 missense 0.447 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs761570570 17q12 17 35868699G> C null S * 15 15 stop gained 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1418890821 17q12 17 35868697T> C null M V 16 16 missense 0.023 benign 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs775686128 17q12 17 35868690A> G null L P 18 18 missense 0.062 benign 0.21 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1417454666 17q12 17 35868687T> C null Y C 19 19 missense 0.018 benign 0.12 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) Ensembl rs1269690441 17q12 17 35868688A> G null Y H 19 19 missense 0.873 possibly damaging 0.07 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs200773777 17q12 17 35868685G> A null P S 20 20 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC rs770044344 17q12 17 35868680C> G null W C 21 21 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs759590994 17q12 17 35868661T> C null T A 28 28 missense 0.003 benign 0.24 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs1420711366 17q12 17 35868660G> C null T S 28 28 missense 0.086 benign 0.17 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116802831 17q12 17 35866763T> G null K N 33 33 0.03395 missense 0.051 benign 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs567543736 17q12 17 35866762C> T null A T 34 34 3.99E-4 missense 0.011 benign 0.06 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) Ensembl rs866628380 17q12 17 35866757C> T null M I 35 35 missense 0.015 benign 0.26 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1303863518 17q12 17 35866752G> T null P H 37 37 missense 0.071 benign 0.22 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ExAC,gnomAD rs550630051 17q12 17 35866741G> A null P S 41 41 3.99E-4 missense 0.943 probably damaging 0.09 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs748471950 17q12 17 35866732A> G null C R 44 44 missense 0.648 possibly damaging 0.06 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1396600320 17q12 17 35866728T> C null Y C 45 45 missense 0.785 possibly damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs748960641 17q12 17 35866726G> A null Q * 46 46 stop gained 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1220634931 17q12 17 35865392G> A null P L 48 48 missense 0.876 possibly damaging 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs1486852900 17q12 17 35865384C> T null E K 51 51 missense 0.602 possibly damaging 0.14 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) Ensembl rs997603003 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865380A> C null F C 52 52 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1332992060 17q12 17 35865381A> G null F L 52 52 missense 0.003 benign 0.13 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77979655 17q12 17 35865379A> T null F L 52 52 0.002995 missense 0.003 benign 0.13 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77979655 17q12 17 35865379A> C null F L 52 52 0.002995 missense 0.003 benign 0.13 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1332992060 17q12 17 35865381A> C null F V 52 52 missense 0.052 benign 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1342175455 17q12 17 35865377G> A null P L 53 53 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs775177304 17q12 17 35865378G> A null P S 53 53 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs200660099 17q12 17 35865374G> C null P R 54 54 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs745335420 17q12 17 35865375G> A null P S 54 54 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs780600451 17q12 17 35865371C> T null S N 55 55 missense 0.873 possibly damaging 0.07 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs1468178682 17q12 17 35865369G> T null P T 56 56 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ESP,ExAC,TOPMed,gnomAD rs148728671 17q12 17 35865365T> C null E G 57 57 missense 0.801 possibly damaging 0.02 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs757153854 17q12 17 35865366C> G null E Q 57 57 missense 0.884 possibly damaging 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ESP,TOPMed,gnomAD rs375128821 17q12 17 35865362C> G null C S 58 58 missense 0.725 possibly damaging 0.3 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ESP,TOPMed,gnomAD rs375128821 17q12 17 35865362C> T null C Y 58 58 missense 0.143 benign 0.81 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1239709031 17q12 17 35865359C> G null W S 59 59 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs777748369 17q12 17 35865354G> A null Q * 61 61 stop gained 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141724302 17q12 17 35865347G> A null P L 63 63 0.002596 missense 0.727 possibly damaging 0.11 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1467289567 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865344C> A null S I 64 64 missense 0.387 benign 0.02 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs1037945023 17q12 17 35865343G> T null S R 64 64 missense 0.022 benign 0.13 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs766569723 17q12 17 35865332G> A null S L 68 68 missense 0.013 benign 0.17 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1284120281 17q12 17 35865330C> T null V I 69 69 missense 0.011 benign 0.17 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,NCI-TCGA,gnomAD rs767506120 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865326G> A null P L 70 70 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs767506120 17q12 17 35865326G> C null P R 70 70 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC rs756318684 17q12 17 35865327G> A null P S 70 70 missense 0.998 probably damaging 0.05 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1238166658 17q12 17 35865322G> T null Y * 71 71 stop gained 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1438491755 17q12 17 35865319G> T null C * 72 72 stop gained 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1333071232 17q12 17 35865320C> A null C F 72 72 missense 0.828 possibly damaging 0.08 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375898021 17q12 17 35865321A> C null C G 72 72 missense 0.931 probably damaging 0.02 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375898021 17q12 17 35865321A> G null C R 72 72 missense 0.948 probably damaging 0.19 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1333071232 17q12 17 35865320C> T null C Y 72 72 missense 0.948 probably damaging 0.02 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs908088190 17q12 17 35865316G> T null Y * 73 73 stop gained 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1270585150 17q12 17 35865318A> C null Y D 73 73 missense 0.914 probably damaging 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1326237884 17q12 17 35865314A> C null F C 74 74 missense 0.003 benign 0.18 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1393248088 17q12 17 35865315A> C null F V 74 74 missense 0.023 benign 0.5 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,TOPMed rs193124927 17q12 17 35865310C> G null K N 75 75 2.0E-4 missense 0.009 benign 0.25 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1157506704 17q12 17 35865308T> G null K T 76 76 missense 0.007 benign 0.28 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs764738478 17q12 17 35865306G> C null P A 77 77 missense 0.722 possibly damaging 0.02 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs764738478 17q12 17 35865306G> A null P S 77 77 missense 0.424 benign 0.08 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs1479370903 17q12 17 35865299A> C null I S 79 79 missense 0.037 benign 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) Ensembl rs994504847 17q12 17 35865300T> C null I V 79 79 missense 0.001 benign 0.32 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs541044178 17q12 17 35865293G> A null T M 81 81 2.0E-4 missense 0.11 benign 0.14 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs1408690282 17q12 17 35865291G> A null H Y 82 82 missense 0.478 possibly damaging 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1046265812 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865282C> T null D N 85 85 missense 0.0 benign 0.14 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1046265812 17q12 17 35865282C> A null D Y 85 85 missense 0.373 benign 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1231785580 17q12 17 35865278A> G null L P 86 86 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs748062747 17q12 17 35865276A> G null Y H 87 87 missense 0.901 possibly damaging 0.07 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs746592494 17q12 17 35865268C> G null Q H 89 89 missense 0.003 benign 0.15 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1303896230 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q12 17 35865267G> A null R * 90 90 stop gained 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs777660364 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865266C> T null R Q 90 90 missense 0.007 benign 0.41 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs980566319 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865255C> T null E K 94 94 missense 0.005 benign 0.12 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1316981242 17q12 17 35865252C> A null A S 95 95 missense 0.013 benign 0.47 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1316981242 17q12 17 35865252C> T null A T 95 95 missense 0.007 benign 0.33 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs747931019 17q12 17 35865249C> G null E Q 96 96 missense 0.001 benign 1.0 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs1376221810 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865245T> A null K M 97 97 missense 0.847 possibly damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC rs555420433 17q12 17 35865242A> C null M R 98 98 missense 0.086 benign 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC rs555420433 17q12 17 35865242A> G null M T 98 98 missense 0.001 benign 0.19 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs1283663841 17q12 17 35865236C> T null R K 100 100 missense 0.058 benign 1.0 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs756299878 17q12 17 35865235C> G null R S 100 100 missense 0.058 benign 0.38 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs781542854 17q12 17 35865229C> T null M I 102 102 missense 0.0 benign 0.11 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ESP,ExAC,gnomAD rs149596027 17q12 17 35865230A> G null M T 102 102 missense 0.003 benign 0.12 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs147961774 17q12 17 35865227C> T null R K 103 103 9.98E-4 missense 0.019 benign 0.09 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs781342964 17q12 17 35865221T> A null D V 105 105 missense 0.009 benign 0.47 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs1490241082 17q12 17 35865215C> T null R K 107 107 missense 0.009 benign 0.32 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs778028915 17q12 17 35864888T> A null Y F 108 108 missense 0.003 benign 0.13 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1223769698 17q12 17 35864889A> T null Y N 108 108 missense 0.007 benign 0.06 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC rs758888346 17q12 17 35864880C> T null E K 111 111 missense 0.012 benign 0.65 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ExAC,gnomAD rs150018134 17q12 17 35864551T> A null E D 112 112 2.0E-4 missense 0.216 benign 0.06 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) Ensembl rs866485802 17q12 17 35864553C> T null E K 112 112 missense 0.943 probably damaging 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1233032523 17q12 17 35864550G> A null L F 113 113 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs564241223 17q12 17 35864546G> A null T I 114 114 3.99E-4 missense 0.563 possibly damaging 0.04 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs564241223 17q12 17 35864546G> T null T K 114 114 3.99E-4 missense 0.714 possibly damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1380597580 17q12 17 35864541T> C null S G 116 116 missense 0.011 benign 0.03 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed,gnomAD rs1298897923 17q12 17 35864535C> T null E K 118 118 missense 0.0 benign 1.0 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs776576688 17q12 17 35864529G> C null P A 120 120 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) Ensembl rs1414066664 17q12 17 35864521C> A null E D 122 122 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1172759984 17q12 17 35864522T> C null E G 122 122 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs748429388 17q12 17 35864523C> T null E K 122 122 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs748429388 17q12 17 35864523C> G null E Q 122 122 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368827338 17q12 17 35864519T> G null D A 123 123 missense 0.058 benign 0.06 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs774489205 17q12 17 35864520C> G null D H 123 123 missense 0.018 benign 0.04 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs932636184 17q12 17 35864517C> T null E K 124 124 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) gnomAD rs1379002683 17q12 17 35864514G> T null Q K 125 125 missense 0.993 probably damaging 0.08 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,gnomAD rs749440126 17q12 17 35864504G> A null A V 128 128 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ESP,ExAC,gnomAD rs143483228 17q12 17 35864499G> T null Q K 130 130 missense 0.344 benign 0.23 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) TOPMed rs1383519793 17q12 17 35864498T> C null Q R 130 130 missense 0.077 benign 0.1 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) Ensembl rs144324311 17q12 17 35864295C> T null G E 133 133 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs774631439 17q12 17 35864293A> G null C R 134 134 missense 0.153 benign 0.35 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs768820908 17q12 17 35864287G> A null R C 136 136 missense 0.533 possibly damaging 0.0 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141245415 17q12 17 35864286C> T null R H 136 136 0.001797 missense 0.458 possibly damaging 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141245415 17q12 17 35864286C> G null R P 136 136 0.001797 missense 0.224 benign 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs768820908 17q12 17 35864287G> T null R S 136 136 missense 0.042 benign 0.02 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs548112802 17q12 17 35864276G> T null D E 139 139 2.0E-4 missense 0.495 possibly damaging 0.06 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs570995588 17q12 17 35864277T> C null D G 139 139 2.0E-4 missense 0.578 possibly damaging 0.01 deleterious 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs775553290 17q12 17 35864278C> T null D N 139 139 missense 0.112 benign 0.12 tolerated 0 A0A075B7D1 HEATR9 Protein HEATR9 (Fragment) ExAC,TOPMed,gnomAD rs775553290 17q12 17 35864278C> A null D Y 139 139 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed,gnomAD rs777948160 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 2p23.2 2 27894624G> A null R Q 2 2 missense 0.723 possibly damaging 0.04 deleterious 1 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed,gnomAD rs749367639 2p23.2 2 27894623C> T null R W 2 2 missense 0.121 benign 0.03 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1444250549 2p23.2 2 27894633A> G null K R 5 5 missense 0.018 benign 0.46 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1336137758 2p23.2 2 27894636T> C null V A 6 6 missense 0.64 possibly damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs897318429 2p23.2 2 27894645A> G null D G 9 9 missense 0.217 benign 0.59 tolerated - low confidence 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed,gnomAD rs771207463 2p23.2 2 27894653A> G null N D 12 12 missense 0.149 benign 0.41 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs774724440 2p23.2 2 27894657G> T null C F 13 13 missense 0.015 benign 0.29 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) Ensembl rs914339383 2p23.2 2 27894656T> C null C R 13 13 missense 0.189 benign 0.12 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs774724440 2p23.2 2 27894657G> C null C S 13 13 missense 0.003 benign 0.21 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs774724440 2p23.2 2 27894657G> A null C Y 13 13 missense 0.242 benign 0.22 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed,gnomAD rs201837586 2p23.2 2 27894669C> T null T I 17 17 missense 0.138 benign 0.2 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) Ensembl rs200380663 2p23.2 2 27894675T> C null L S 19 19 missense 0.281 benign 0.01 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1470356247 2p23.2 2 27894678A> T null K I 20 20 missense 0.885 possibly damaging 0.01 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1208614169 2p23.2 2 27929836A> G null T A 24 24 missense 0.171 benign 0.36 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1222267673 2p23.2 2 27929837C> T null T I 24 24 missense 0.257 benign 0.08 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs779190463 2p23.2 2 27929849C> G null P R 28 28 missense 0.015 benign 0.07 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs771188998 2p23.2 2 27929848C> T null P S 28 28 missense 0.007 benign 0.08 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) 1000Genomes,ExAC,gnomAD rs531578768 2p23.2 2 27929851G> C null G R 29 29 2.0E-4 missense 0.053 benign 0.14 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1264843129 2p23.2 2 27929857A> G null N D 31 31 missense 0.098 benign 0.87 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1178924250 2p23.2 2 27929859C> A null N K 31 31 missense 0.007 benign 0.37 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ESP,ExAC,TOPMed,gnomAD rs145553462 2p23.2 2 27929866C> T null R * 34 34 stop gained 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs775096236 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p23.2 2 27929867G> A null R Q 34 34 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1318735323 2p23.2 2 27929879A> T null H L 38 38 missense 0.07 benign 0.65 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs768523774 2p23.2 2 27929878C> T null H Y 38 38 missense 0.07 benign 1.0 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs776609459 2p23.2 2 27929885C> T null P L 40 40 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed,gnomAD rs761312063 2p23.2 2 27929898G> C null E D 44 44 missense 0.007 benign 0.4 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1322198835 2p23.2 2 27929905A> C null K Q 47 47 missense 0.823 possibly damaging 0.07 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1166323831 2p23.2 2 27987995G> A null D N 49 49 missense 0.879 possibly damaging 0.22 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed,gnomAD rs926002077 2p23.2 2 27988001A> G null I V 51 51 missense 0.523 possibly damaging 0.11 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1419803244 2p23.2 2 27988005T> C null F S 52 52 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1219107964 [NCI-TCGA]: Variant assessed as Somatic; impact. 2p23.2 2 27988008A> G null N S 53 53 missense 0.452 possibly damaging 0.02 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed,gnomAD rs1182381424 2p23.2 2 27988011C> T null A V 54 54 missense 0.66 possibly damaging 0.03 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs772560433 2p23.2 2 27988022G> C null E Q 58 58 missense 0.642 possibly damaging 0.05 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1461159965 2p23.2 2 27988025C> A null L M 59 59 missense 0.561 possibly damaging 0.14 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) Ensembl rs1558639513 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 2p23.2 2 27988034G> A null D N 62 62 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs774107402 2p23.2 2 27988046G> A null G R 66 66 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1284586840 2p23.2 2 27988049G> A null E K 67 67 missense 0.917 probably damaging 0.01 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1405418257 2p23.2 2 27988071A> C null D A 74 74 missense 0.373 benign 0.01 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ESP,TOPMed,gnomAD rs140802379 2p23.2 2 27988073C> G null P A 75 75 missense 0.02 benign 0.29 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed rs754373625 2p23.2 2 27988077C> T null S L 76 76 missense 0.098 benign 0.15 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed,gnomAD rs986149181 2p23.2 2 28025240G> T null W C 84 84 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1181189911 cosmic curated [Cosmic]: skin, [Cosmic]: large_intestine pubmed:22810696,pubmed:22842228,cosmic_study:375,cosmic_study:511 2p23.2 2 28025245C> T null P L 86 86 missense 0.059 benign 0.08 tolerated 1 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs915405454 2p23.2 2 28025248C> A null S * 87 87 stop gained 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs762254084 2p23.2 2 28025251A> C null N T 88 88 missense 0.521 possibly damaging 0.01 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) Ensembl rs965224620 2p23.2 2 28025254C> G null P R 89 89 missense 0.913 probably damaging 0.02 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs751006976 2p23.2 2 28025258A> C null E D 90 90 missense 0.001 benign 0.35 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs765650691 2p23.2 2 28025256G> A null E K 90 90 missense 0.015 benign 0.47 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs758377921 2p23.2 2 28025271G> A null V M 95 95 missense 0.702 possibly damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs755156278 2p23.2 2 28025274G> A null V M 96 96 missense 0.557 possibly damaging 0.09 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1359968713 2p23.2 2 28025281A> G null E G 98 98 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1481096600 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p23.2 2 28025280G> A null E K 98 98 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed,gnomAD rs752429160 2p23.2 2 28025283C> T null L F 99 99 missense 0.84 possibly damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1399463398 2p23.2 2 28025286G> A null V M 100 100 missense 0.059 benign 0.09 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed,gnomAD rs755992683 2p23.2 2 28025294A> T null Q H 102 102 missense 0.036 benign 0.4 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs770325350 2p23.2 2 28025301C> T null Q * 105 105 stop gained 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) 1000Genomes,ExAC,gnomAD rs182586969 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p23.2 2 28025309A> C null Q H 107 107 2.0E-4 missense 0.646 possibly damaging 0.09 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs771781939 2p23.2 2 28025310T> C null C R 108 108 missense 0.039 benign 0.56 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1371362894 2p23.2 2 28025313A> G null S G 109 109 missense 0.02 benign 0.12 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ESP,NCI-TCGA,TOPMed,gnomAD rs373361156 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p23.2 2 28025316C> T null R C 110 110 missense 0.962 probably damaging 0.03 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs766228855 [NCI-TCGA]: Variant assessed as Somatic; impact. 2p23.2 2 28025317G> A null R H 110 110 missense 0.347 benign 0.07 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ESP,ExAC,TOPMed,gnomAD rs138608273 2p23.2 2 28025323G> T null R L 112 112 missense 0.222 benign 0.46 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs138608273 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 2p23.2 2 28025323G> A null R Q 112 112 missense 0.015 benign 0.79 tolerated 1 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed,gnomAD rs200578948 2p23.2 2 28025322C> T null R W 112 112 missense 0.764 possibly damaging 0.06 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1288882134 2p23.2 2 28025326A> G null E G 113 113 missense 0.02 benign 0.14 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1331066239 2p23.2 2 28025329G> C null S T 114 114 missense 0.62 possibly damaging 0.22 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed,gnomAD rs1289071416 2p23.2 2 28025332C> T null S F 115 115 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,NCI-TCGA,gnomAD rs773570433 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p23.2 2 28025334C> T null R C 116 116 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed,gnomAD rs763471828 2p23.2 2 28025335G> A null R H 116 116 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed,gnomAD rs763471828 2p23.2 2 28025335G> C null R P 116 116 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed,gnomAD rs1468200971 2p23.2 2 28025337C> A null L I 117 117 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1459297869 2p23.2 2 28025340A> C null M L 118 118 missense 0.003 benign 0.92 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1409394576 2p23.2 2 28025343T> G null F V 119 119 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1424346532 2p23.2 2 28025350A> C null Y S 121 121 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs751576062 2p23.2 2 28025352C> T null Q * 122 122 stop gained 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) 1000Genomes,ExAC,gnomAD rs569751545 2p23.2 2 28025355A> G null T A 123 123 3.99E-4 missense 0.03 benign 0.12 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) 1000Genomes,ExAC,gnomAD rs530701562 2p23.2 2 28025356C> A null T K 123 123 3.99E-4 missense 0.193 benign 0.03 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1281168255 2p23.2 2 28025362T> G null L R 125 125 missense 0.209 benign 0.01 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1245232744 2p23.2 2 28025370C> T null P S 128 128 missense 0.009 benign 0.35 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1474155425 2p23.2 2 28025377A> G null Y C 130 130 missense 0.879 possibly damaging 0.17 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1474155425 2p23.2 2 28025377A> T null Y F 130 130 missense 0.005 benign 0.6 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs757176453 2p23.2 2 28025379G> A null G R 131 131 missense 0.011 benign 0.35 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) 1000Genomes,ExAC,gnomAD rs200034653 2p23.2 2 28025388A> C null M L 134 134 2.0E-4 missense 0.003 benign 0.17 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) 1000Genomes,ExAC,gnomAD rs200034653 2p23.2 2 28025388A> G null M V 134 134 2.0E-4 missense 0.01 benign 0.59 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ESP,ExAC,TOPMed,gnomAD rs202064486 2p23.2 2 28025394A> G null I V 136 136 missense 0.005 benign 1.0 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs779822711 2p23.2 2 28025398A> G null Y C 137 137 missense 0.973 probably damaging 0.03 deleterious 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs768219920 2p23.2 2 28025400G> A null A T 138 138 missense 0.79 possibly damaging 0.2 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed,gnomAD rs1211786100 2p23.2 2 28025414C> A null N K 142 142 missense 0.32 benign 0.19 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs763234187 2p23.2 2 28025422T> C null V A 145 145 missense 0.007 benign 0.62 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs538684860 2p23.2 2 28025426G> T null R S 146 146 3.99E-4 missense 0.044 benign 0.14 tolerated 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1473357205 2p23.2 2 28025430T> G null F V 148 148 missense 0.999 probably damaging 0.08 tolerated - low confidence 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1358954207 2p23.2 2 28025435G> T null E D 149 149 missense 0.0 benign 0.35 tolerated - low confidence 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1167502805 2p23.2 2 28025437A> C null N T 150 150 missense 0.617 possibly damaging 0.78 tolerated - low confidence 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs759605130 2p23.2 2 28025446A> C null K T 153 153 missense 0.0 unknown 0.44 tolerated - low confidence 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1405529664 2p23.2 2 28025448G> A null D N 154 154 missense 0.0 unknown 0.41 tolerated - low confidence 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed,gnomAD rs767619333 2p23.2 2 28025454T> G null F V 156 156 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) Ensembl rs754642264 2p23.2 2 28025459C> G null I M 157 157 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1334673051 2p23.2 2 28025462T> G null H Q 158 158 missense 0.0 unknown 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) gnomAD rs1472161270 2p23.2 2 28025461A> G null H R 158 158 missense 0.0 unknown 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1233228398 2p23.2 2 28025464A> G null N S 159 159 missense 0.0 unknown 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs775548486 2p23.2 2 28025471A> G null I M 161 161 missense 0.0 unknown 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) TOPMed rs1046566173 2p23.2 2 28025473T> G null I S 162 162 missense 0.0 unknown 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,TOPMed,gnomAD rs111827324 2p23.2 2 28025481T> G null Y D 165 165 missense 0.0 unknown 0 A0A075B7D2 BABAM2 BRCA1-A complex subunit BRE (Fragment) ExAC,gnomAD rs753600749 2p23.2 2 28025485T> A null V D 166 166 missense 0.0 unknown 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1355709538 17q12 17 35868738G> T null A D 2 2 missense 0.041 benign 0.09 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1407486871 17q12 17 35868734A> T null Y * 3 3 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77630516 17q12 17 35868735T> C null Y C 3 3 0.02536 missense 0.02 benign 0.19 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77630516 17q12 17 35868735T> A null Y F 3 3 0.02536 missense 0.713 possibly damaging 0.29 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1371786765 17q12 17 35868728T> G null K N 5 5 missense 0.026 benign 0.2 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs760695766 17q12 17 35868724T> C null T A 7 7 missense 0.003 benign 0.86 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1443386367 17q12 17 35868720T> C null D G 8 8 missense 0.287 benign 0.15 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs772814204 17q12 17 35868717A> G null I T 9 9 missense 0.071 benign 0.06 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1361575176 17q12 17 35868702C> G null R T 14 14 missense 0.331 benign 0.02 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs761570570 17q12 17 35868699G> C null S * 15 15 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1418890821 17q12 17 35868697T> C null M V 16 16 missense 0.477 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs775686128 17q12 17 35868690A> G null L P 18 18 missense 0.306 benign 0.2 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1417454666 17q12 17 35868687T> C null Y C 19 19 missense 0.105 benign 0.14 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs1269690441 17q12 17 35868688A> G null Y H 19 19 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs200773777 17q12 17 35868685G> A null P S 20 20 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC rs770044344 17q12 17 35868680C> G null W C 21 21 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs759590994 17q12 17 35868661T> C null T A 28 28 missense 0.017 benign 0.27 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1420711366 17q12 17 35868660G> C null T S 28 28 missense 0.03 benign 0.17 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116802831 17q12 17 35866763T> G null K N 33 33 0.03395 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,TOPMed,gnomAD rs567543736 17q12 17 35866762C> T null A T 34 34 3.99E-4 missense 0.17 benign 0.05 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs866628380 17q12 17 35866757C> T null M I 35 35 missense 0.059 benign 0.17 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1303863518 17q12 17 35866752G> T null P H 37 37 missense 0.432 benign 0.17 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,gnomAD rs550630051 17q12 17 35866741G> A null P S 41 41 3.99E-4 missense 0.652 possibly damaging 0.07 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs748471950 17q12 17 35866732A> G null C R 44 44 missense 0.222 benign 0.05 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1396600320 17q12 17 35866728T> C null Y C 45 45 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs748960641 17q12 17 35866726G> A null Q * 46 46 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1220634931 17q12 17 35865392G> A null P L 48 48 missense 0.955 probably damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1486852900 17q12 17 35865384C> T null E K 51 51 missense 0.721 possibly damaging 0.1 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs997603003 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865380A> C null F C 52 52 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77979655 17q12 17 35865379A> C null F L 52 52 0.002995 missense 0.072 benign 0.13 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1332992060 17q12 17 35865381A> G null F L 52 52 missense 0.072 benign 0.13 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77979655 17q12 17 35865379A> T null F L 52 52 0.002995 missense 0.072 benign 0.13 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1332992060 17q12 17 35865381A> C null F V 52 52 missense 0.482 possibly damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1342175455 17q12 17 35865377G> A null P L 53 53 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs775177304 17q12 17 35865378G> A null P S 53 53 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs200660099 17q12 17 35865374G> C null P R 54 54 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs745335420 17q12 17 35865375G> A null P S 54 54 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs780600451 17q12 17 35865371C> T null S N 55 55 missense 0.462 possibly damaging 0.08 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1468178682 17q12 17 35865369G> T null P T 56 56 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs148728671 17q12 17 35865365T> C null E G 57 57 missense 0.315 benign 0.03 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs757153854 17q12 17 35865366C> G null E Q 57 57 missense 0.972 probably damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,TOPMed,gnomAD rs375128821 17q12 17 35865362C> G null C S 58 58 missense 0.617 possibly damaging 0.22 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,TOPMed,gnomAD rs375128821 17q12 17 35865362C> T null C Y 58 58 missense 0.029 benign 0.59 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1239709031 17q12 17 35865359C> G null W S 59 59 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs777748369 17q12 17 35865354G> A null Q * 61 61 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141724302 17q12 17 35865347G> A null P L 63 63 0.002596 missense 0.111 benign 0.07 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1467289567 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865344C> A null S I 64 64 missense 0.8 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1037945023 17q12 17 35865343G> T null S R 64 64 missense 0.071 benign 0.07 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs766569723 17q12 17 35865332G> A null S L 68 68 missense 0.026 benign 0.29 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1284120281 17q12 17 35865330C> T null V I 69 69 missense 0.101 benign 0.1 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,NCI-TCGA,gnomAD rs767506120 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865326G> A null P L 70 70 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs767506120 17q12 17 35865326G> C null P R 70 70 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC rs756318684 17q12 17 35865327G> A null P S 70 70 missense 0.523 possibly damaging 0.06 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1238166658 17q12 17 35865322G> T null Y * 71 71 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1438491755 17q12 17 35865319G> T null C * 72 72 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1333071232 17q12 17 35865320C> A null C F 72 72 missense 0.14 benign 0.08 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs375898021 17q12 17 35865321A> C null C G 72 72 missense 0.931 probably damaging 0.02 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs375898021 17q12 17 35865321A> G null C R 72 72 missense 0.14 benign 0.13 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1333071232 17q12 17 35865320C> T null C Y 72 72 missense 0.884 possibly damaging 0.02 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs908088190 17q12 17 35865316G> T null Y * 73 73 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1270585150 17q12 17 35865318A> C null Y D 73 73 missense 0.913 probably damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1326237884 17q12 17 35865314A> C null F C 74 74 missense 0.012 benign 0.18 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1393248088 17q12 17 35865315A> C null F V 74 74 missense 0.061 benign 0.5 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,TOPMed rs193124927 17q12 17 35865310C> G null K N 75 75 2.0E-4 missense 0.017 benign 0.19 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1157506704 17q12 17 35865308T> G null K T 76 76 missense 0.03 benign 0.22 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs764738478 17q12 17 35865306G> C null P A 77 77 missense 0.852 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs764738478 17q12 17 35865306G> A null P S 77 77 missense 0.495 possibly damaging 0.05 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1479370903 17q12 17 35865299A> C null I S 79 79 missense 0.36 benign 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs994504847 17q12 17 35865300T> C null I V 79 79 missense 0.02 benign 0.24 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,TOPMed,gnomAD rs541044178 17q12 17 35865293G> A null T M 81 81 2.0E-4 missense 0.202 benign 0.09 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1408690282 17q12 17 35865291G> A null H Y 82 82 missense 0.743 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1046265812 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865282C> T null D N 85 85 missense 0.007 benign 0.12 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1046265812 17q12 17 35865282C> A null D Y 85 85 missense 0.805 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1231785580 17q12 17 35865278A> G null L P 86 86 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs748062747 17q12 17 35865276A> G null Y H 87 87 missense 0.209 benign 0.05 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs746592494 17q12 17 35865268C> G null Q H 89 89 missense 0.02 benign 0.09 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1303896230 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q12 17 35865267G> A null R * 90 90 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,NCI-TCGA,TOPMed,gnomAD rs777660364 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865266C> T null R Q 90 90 missense 0.063 benign 0.44 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs980566319 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865255C> T null E K 94 94 missense 0.073 benign 0.09 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1316981242 17q12 17 35865252C> A null A S 95 95 missense 0.053 benign 0.36 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1316981242 17q12 17 35865252C> T null A T 95 95 missense 0.03 benign 0.22 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs747931019 17q12 17 35865249C> G null E Q 96 96 missense 0.006 benign 1.0 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1376221810 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35865245T> A null K M 97 97 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC rs555420433 17q12 17 35865242A> C null M R 98 98 missense 0.578 possibly damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC rs555420433 17q12 17 35865242A> G null M T 98 98 missense 0.03 benign 0.18 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1283663841 17q12 17 35865236C> T null R K 100 100 missense 0.02 benign 1.0 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs756299878 17q12 17 35865235C> G null R S 100 100 missense 0.205 benign 0.12 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs781542854 17q12 17 35865229C> T null M I 102 102 missense 0.02 benign 0.07 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,gnomAD rs149596027 17q12 17 35865230A> G null M T 102 102 missense 0.034 benign 0.08 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,TOPMed,gnomAD rs147961774 17q12 17 35865227C> T null R K 103 103 9.98E-4 missense 0.169 benign 0.12 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs781342964 17q12 17 35865221T> A null D V 105 105 missense 0.007 benign 0.48 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1490241082 17q12 17 35865215C> T null R K 107 107 missense 0.065 benign 0.07 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs778028915 17q12 17 35864888T> A null Y F 108 108 missense 0.02 benign 0.16 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1223769698 17q12 17 35864889A> T null Y N 108 108 missense 0.02 benign 0.08 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC rs758888346 17q12 17 35864880C> T null E K 111 111 missense 0.373 benign 0.09 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs753120806 17q12 17 35864873T> C null H R 113 113 missense 0.402 benign 0.52 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs1568327084 17q12 17 35864874G> A null H Y 113 113 missense 0.291 benign 0.05 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs765809894 17q12 17 35864871G> A null Q * 114 114 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs765954145 17q12 17 35864860G> C null I M 117 117 missense 0.205 benign 0.07 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs146369614 17q12 17 35864861A> T null I N 117 117 missense 0.046 benign 0.05 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs906070250 17q12 17 35864862T> C null I V 117 117 missense 0.205 benign 0.24 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs760355293 17q12 17 35864857T> G null K N 118 118 missense 0.133 benign 0.25 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs373581535 17q12 17 35864855A> G null M T 119 119 missense 0.001 benign 0.18 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs761428746 17q12 17 35864848A> T null H Q 121 121 missense 0.876 possibly damaging 0.02 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,TOPMed,gnomAD rs550102291 17q12 17 35864846A> T null L H 122 122 2.0E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs768697806 17q12 17 35864843G> A null P L 123 123 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs779998793 17q12 17 35864839C> T null M I 124 124 missense 0.03 benign 0.32 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs947500994 17q12 17 35864841T> C null M V 124 124 missense 0.03 benign 0.32 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs142206883 17q12 17 35864837C> T null S N 125 125 missense 0.044 benign 0.16 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1183459974 17q12 17 35864831A> G null L P 127 127 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1479626848 17q12 17 35864822T> A null K I 130 130 missense 0.681 possibly damaging 0.13 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,gnomAD rs139013100 17q12 17 35864820A> G null S P 131 131 missense 0.017 benign 0.41 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs934664409 17q12 17 35864812C> T null M I 133 133 missense 0.022 benign 0.14 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116191233 17q12 17 35864811G> A null R * 134 134 2.0E-4 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,NCI-TCGA,TOPMed,gnomAD rs199783208 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35864810C> T null R Q 134 134 missense 0.145 benign 0.53 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed rs779270986 17q12 17 35864807G> T null S Y 135 135 missense 0.067 benign 0.65 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs373345620 17q12 17 35864801G> A null P L 137 137 missense 0.017 benign 0.46 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs754165637 17q12 17 35864796C> T null E K 139 139 missense 0.149 benign 0.04 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1371851074 17q12 17 35864795T> A null E V 139 139 missense 0.499 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs750048931 17q12 17 35864792G> A null P L 140 140 missense 0.162 benign 0.03 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs756523566 17q12 17 35864793G> T null P T 140 140 missense 0.786 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs140690005 17q12 17 35864789G> A null T I 141 141 missense 0.105 benign 0.11 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs556310900 17q12 17 35864787G> C null Q E 142 142 missense 0.0 benign 1.0 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs972091708 17q12 17 35864782G> T null D E 143 143 missense 0.401 benign 0.09 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs761216795 17q12 17 35864784C> G null D H 143 143 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs761216795 17q12 17 35864784C> A null D Y 143 143 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs773926237 17q12 17 35864781G> C null P A 144 144 missense 0.084 benign 0.09 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs763870573 17q12 17 35864780G> A null P L 144 144 missense 0.114 benign 0.05 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1315108989 17q12 17 35864778G> T null L M 145 145 missense 0.88 possibly damaging 0.06 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1417189055 17q12 17 35864770C> T null W * 147 147 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1178995317 17q12 17 35864762A> G null L S 150 150 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,gnomAD rs150018134 17q12 17 35864551T> A null E D 152 152 2.0E-4 missense 0.398 benign 0.16 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs866485802 17q12 17 35864553C> T null E K 152 152 missense 0.967 probably damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1233032523 17q12 17 35864550G> A null L F 153 153 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,TOPMed,gnomAD rs564241223 17q12 17 35864546G> A null T I 154 154 3.99E-4 missense 0.444 benign 0.09 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,TOPMed,gnomAD rs564241223 17q12 17 35864546G> T null T K 154 154 3.99E-4 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1380597580 17q12 17 35864541T> C null S G 156 156 missense 0.149 benign 0.03 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1298897923 17q12 17 35864535C> T null E K 158 158 missense 0.0 benign 1.0 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs776576688 17q12 17 35864529G> C null P A 160 160 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs1414066664 17q12 17 35864521C> A null E D 162 162 missense 1.0 probably damaging 0.12 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1172759984 17q12 17 35864522T> C null E G 162 162 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs748429388 17q12 17 35864523C> T null E K 162 162 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs748429388 17q12 17 35864523C> G null E Q 162 162 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs368827338 17q12 17 35864519T> G null D A 163 163 missense 0.786 possibly damaging 0.02 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs774489205 17q12 17 35864520C> G null D H 163 163 missense 0.227 benign 0.04 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs932636184 17q12 17 35864517C> T null E K 164 164 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1379002683 17q12 17 35864514G> T null Q K 165 165 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs749440126 17q12 17 35864504G> A null A V 168 168 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,gnomAD rs143483228 17q12 17 35864499G> T null Q K 170 170 missense 0.396 benign 0.29 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1383519793 17q12 17 35864498T> C null Q R 170 170 missense 0.367 benign 0.06 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs144324311 17q12 17 35864295C> T null G E 173 173 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs774631439 17q12 17 35864293A> G null C R 174 174 missense 0.481 possibly damaging 0.31 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs768820908 17q12 17 35864287G> A null R C 176 176 missense 0.009 benign 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141245415 17q12 17 35864286C> T null R H 176 176 0.001797 missense 0.707 possibly damaging 0.02 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141245415 17q12 17 35864286C> G null R P 176 176 0.001797 missense 0.629 possibly damaging 0.02 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs768820908 17q12 17 35864287G> T null R S 176 176 missense 0.222 benign 0.05 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,TOPMed,gnomAD rs548112802 17q12 17 35864276G> T null D E 179 179 2.0E-4 missense 0.149 benign 0.12 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,TOPMed,gnomAD rs570995588 17q12 17 35864277T> C null D G 179 179 2.0E-4 missense 0.767 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs775553290 17q12 17 35864278C> T null D N 179 179 missense 0.105 benign 0.23 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs775553290 17q12 17 35864278C> A null D Y 179 179 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC rs771294757 17q12 17 35864270A> C null F L 181 181 missense 0.059 benign 0.09 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs889400372 17q12 17 35864265A> G null M T 183 183 missense 0.049 benign 0.05 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs1049314175 17q12 17 35864260C> T null A T 185 185 missense 0.312 benign 0.06 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs371185832 17q12 17 35864256A> G null L P 186 186 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs777466904 17q12 17 35864252C> G null Q H 187 187 missense 0.693 possibly damaging 0.38 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs930829983 17q12 17 35864250T> C null Q R 188 188 missense 0.02 benign 0.1 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs147813167 17q12 17 35863558G> A null A V 190 190 missense 0.534 possibly damaging 0.27 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs757040296 17q12 17 35863556G> A null Q * 191 191 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1456158710 17q12 17 35863538C> G null V L 197 197 missense 0.536 possibly damaging 0.08 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,NCI-TCGA,TOPMed,gnomAD rs765382917 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35863529C> T null E K 200 200 missense 0.568 possibly damaging 0.07 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs771362515 17q12 17 35863525G> A null A V 201 201 missense 0.233 benign 0.12 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs755157020 17q12 17 35863522T> C null Y C 202 202 missense 0.026 benign 0.21 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,TOPMed,gnomAD rs183997741 17q12 17 35863520G> A null R * 203 203 2.0E-4 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,TOPMed,gnomAD rs183997741 17q12 17 35863520G> C null R G 203 203 2.0E-4 missense 0.951 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1380913920 17q12 17 35863519C> T null R Q 203 203 missense 0.178 benign 0.11 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs760853295 17q12 17 35863517T> C null T A 204 204 missense 0.108 benign 0.37 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1312461127 17q12 17 35863516G> A null T I 204 204 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs552237376 17q12 17 35863513A> G null L P 205 205 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1256764434 17q12 17 35863511C> T null A T 206 206 missense 0.984 probably damaging 0.02 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1466350406 17q12 17 35863507A> T null I N 207 207 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1466350406 17q12 17 35863507A> G null I T 207 207 missense 0.784 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1225305026 17q12 17 35863122C> T null C Y 210 210 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1243468962 17q12 17 35863119A> G null L P 211 211 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs370892619 17q12 17 35863114T> C null K E 213 213 missense 0.668 possibly damaging 0.05 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs775000208 17q12 17 35863112C> G null K N 213 213 missense 0.972 probably damaging 0.03 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs758987742 17q12 17 35863101C> A null R L 217 217 missense 0.047 benign 0.05 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs758987742 17q12 17 35863101C> G null R P 217 217 missense 0.451 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs142219051 17q12 17 35863102G> A null R W 217 217 missense 0.764 possibly damaging 0.0 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs1568321252 17q12 17 35863093T> C null I V 220 220 missense 0.526 possibly damaging 0.08 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1359871186 17q12 17 35863087G> A null Q * 222 222 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs746966215 17q12 17 35863068T> G null E A 228 228 missense 0.465 possibly damaging 0.13 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1247369293 17q12 17 35863069C> T null E K 228 228 missense 0.347 benign 0.23 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs777812312 17q12 17 35863066C> T null G S 229 229 missense 0.053 benign 0.8 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115641363 17q12 17 35863065C> A null G V 229 229 0.002796 missense 0.111 benign 0.24 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,gnomAD rs575054667 17q12 17 35863058C> A null R S 231 231 2.0E-4 missense 0.885 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs960286330 17q12 17 35863054C> T null E K 233 233 missense 0.767 possibly damaging 0.01 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs960286330 17q12 17 35863054C> G null E Q 233 233 missense 0.477 possibly damaging 0.03 deleterious 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1217798556 17q12 17 35863045T> C null T A 236 236 missense 0.02 benign 0.75 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,NCI-TCGA,gnomAD rs750491568 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35863044G> A null T M 236 236 missense 0.038 benign 0.31 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,gnomAD rs377561711 17q12 17 35863036G> A null R * 239 239 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs115597603 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35863035C> T null R Q 239 239 2.0E-4 missense 0.46 possibly damaging 0.15 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1339743285 17q12 17 35863012C> T null A T 247 247 missense 0.247 benign 0.13 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1194822883 17q12 17 35863008A> G null V A 248 248 missense 0.23 benign 0.12 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1298807887 17q12 17 35863009C> G null V L 248 248 missense 0.059 benign 0.08 tolerated 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ExAC,gnomAD rs149491745 17q12 17 35862984C> G null R T 256 256 7.99E-4 missense 0.175 benign 0.08 tolerated - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1167417683 17q12 17 35862982T> C null T A 257 257 missense 0.084 benign 0.69 tolerated - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187568197 17q12 17 35862978A> G null V A 258 258 9.98E-4 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed,gnomAD rs1366615061 17q12 17 35862964G> T null Q K 263 263 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1477246234 17q12 17 35862963T> A null Q L 263 263 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs776066420 17q12 17 35862960C> A null S I 264 264 missense 0.001 benign 0.11 tolerated - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,gnomAD rs369164945 17q12 17 35862959G> C null S R 264 264 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1163874226 17q12 17 35862954G> A null T I 266 266 missense 0.0 benign 0.77 tolerated - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1457501020 17q12 17 35859065A> G null L P 269 269 missense 0.998 probably damaging 0.29 tolerated - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs766081154 17q12 17 35859059G> A null S L 271 271 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs766081154 17q12 17 35859059G> C null S W 271 271 missense 0.163 benign 0.01 deleterious - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 TOPMed rs1344991332 17q12 17 35859056C> A null G V 272 272 missense 0.006 benign 0.19 tolerated - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs761833608 17q12 17 35859052C> G null M I 273 273 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,TOPMed,gnomAD rs767321997 17q12 17 35859053A> G null M T 273 273 missense 0.015 benign 0.01 deleterious - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 gnomAD rs1384646448 17q12 17 35859045T> C null S G 276 276 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A075B7D3 HEATR9 Protein HEATR9 ExAC,gnomAD rs774204123 17q12 17 35859041C> T null W * 277 277 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,ExAC,TOPMed,gnomAD rs746902961 17q12 17 35859028_35859029de l null Y * 281 281 stop gained 0 A0A075B7D3 HEATR9 Protein HEATR9 Ensembl rs1568311020 17q12 17 35859022G> C null H Q 283 283 missense 0.0 unknown 0 A0A075B7D3 HEATR9 Protein HEATR9 ESP,TOPMed,gnomAD rs142854620 17q12 17 35859020C> G null * S 284 284 stop lost 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs752264874 2q14.1 2 113406400A> T null E V 2 2 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed,gnomAD rs1467304395 2q14.1 2 113406404G> A null M I 3 3 missense 0.048 benign 0.02 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs184799301 2q14.1 2 113406406G> A null R K 4 4 0.004992 missense 0.042 benign 0.06 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs777258176 2q14.1 2 113406408G> C null V L 5 5 missense 0.031 benign 0.3 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs778715771 2q14.1 2 113406412C> T null P L 6 6 missense 0.168 benign 0.04 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs756877124 2q14.1 2 113406411C> T null P S 6 6 missense 0.177 benign 0.05 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs772063205 2q14.1 2 113406414G> A null A T 7 7 missense 0.012 benign 0.5 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1398620728 2q14.1 2 113406415C> T null A V 7 7 missense 0.02 benign 0.1 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1327648002 2q14.1 2 113406424T> A null L Q 10 10 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1410460054 2q14.1 2 113406423C> G null L V 10 10 missense 0.957 probably damaging 0.05 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1352235645 2q14.1 2 113406427G> A null G E 11 11 missense 0.977 probably damaging 0.12 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1344401085 2q14.1 2 113406435C> A null L M 14 14 missense 0.613 possibly damaging 0.09 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs200364346 2q14.1 2 113406436T> C null L P 14 14 3.99E-4 missense 0.331 benign 0.02 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed,gnomAD rs1340738356 2q14.1 2 113406443G> T null W C 16 16 missense 0.168 benign 0.07 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs768677970 2q14.1 2 113406447C> T null R * 18 18 stop gained 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs776829638 2q14.1 2 113406448G> A null R Q 18 18 missense 0.073 benign 0.16 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs746969037 2q14.1 2 113406575G> A null G D 19 19 missense 0.246 benign 0.07 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs188804088 2q14.1 2 113406450G> A null G S 19 19 0.004193 missense 0.361 benign 0.05 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1489932313 2q14.1 2 113406591C> G null I M 24 24 missense 0.861 possibly damaging 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed rs1416927501 2q14.1 2 113406594G> T null Q H 25 25 missense 0.142 benign 0.05 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs754936397 2q14.1 2 113406593A> G null Q R 25 25 missense 0.072 benign 0.1 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs748189839 2q14.1 2 113406596T> C null V A 26 26 missense 0.024 benign 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC rs781452339 2q14.1 2 113406595G> A null V M 26 26 missense 0.0 benign 1.0 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs191825635 2q14.1 2 113406607C> T null P S 30 30 2.0E-4 missense 0.749 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed rs978724772 2q14.1 2 113406614C> T null S F 32 32 missense 0.072 benign 0.12 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs774751990 2q14.1 2 113406623C> A null A E 35 35 missense 0.903 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs774751990 2q14.1 2 113406623C> T null A V 35 35 missense 0.118 benign 0.33 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed rs1315351493 2q14.1 2 113406629T> G null V G 37 37 missense 0.492 possibly damaging 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs776135962 2q14.1 2 113406628G> A null V I 37 37 missense 0.048 benign 0.17 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs776135962 2q14.1 2 113406628G> T null V L 37 37 missense 0.012 benign 0.68 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed rs895189899 2q14.1 2 113406640G> A null V I 41 41 missense 0.433 benign 0.05 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1385146976 2q14.1 2 113406643A> G null T A 42 42 missense 0.324 benign 0.02 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs764725357 2q14.1 2 113406644C> T null T I 42 42 missense 0.56 possibly damaging 0.03 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs750102140 2q14.1 2 113406652T> G null C G 45 45 missense 0.632 possibly damaging 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs750102140 2q14.1 2 113406652T> C null C R 45 45 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs750102140 2q14.1 2 113406652T> A null C S 45 45 missense 0.846 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs189081008 2q14.1 2 113406655C> G null R G 46 46 5.99E-4 missense 0.045 benign 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed,gnomAD rs1357398065 2q14.1 2 113406656G> A null R Q 46 46 missense 0.02 benign 0.38 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs189081008 2q14.1 2 113406655C> T null R W 46 46 5.99E-4 missense 0.067 benign 0.04 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) Ensembl rs111722298 2q14.1 2 113406658G> C null A P 47 47 missense 0.486 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) Ensembl rs111722298 2q14.1 2 113406658G> A null A T 47 47 missense 0.308 benign 0.05 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs754987730 2q14.1 2 113406667G> A null G S 50 50 missense 0.02 benign 0.99 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed rs1359533965 2q14.1 2 113406671T> A null I N 51 51 missense 0.296 benign 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs781217895 2q14.1 2 113406674G> A null S N 52 52 missense 0.003 benign 0.26 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1044199057 2q14.1 2 113406684A> T null L F 55 55 missense 0.728 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1044199057 2q14.1 2 113406684A> C null L F 55 55 missense 0.728 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed rs1382823607 2q14.1 2 113406682T> A null L I 55 55 missense 0.537 possibly damaging 0.05 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs748241086 2q14.1 2 113406683T> C null L S 55 55 missense 0.823 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs756328040 2q14.1 2 113406686C> G null S C 56 56 missense 0.493 possibly damaging 0.09 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1259389237 2q14.1 2 113406685T> A null S T 56 56 missense 0.005 benign 0.4 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1184161660 2q14.1 2 113406694C> G null Q E 59 59 missense 0.861 possibly damaging 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs749519169 2q14.1 2 113406703C> G null P A 62 62 missense 0.308 benign 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs771149683 2q14.1 2 113406704C> T null P L 62 62 missense 0.404 benign 0.03 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs749519169 2q14.1 2 113406703C> T null P S 62 62 missense 0.541 possibly damaging 0.03 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs779172919 2q14.1 2 113406706G> A null G R 63 63 missense 0.895 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs746189483 2q14.1 2 113406716C> G null P R 66 66 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed,gnomAD rs1051366147 2q14.1 2 113406719C> T null T M 67 67 missense 0.01 benign 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed,gnomAD rs1051366147 2q14.1 2 113406719C> G null T R 67 67 missense 0.003 benign 0.14 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs776046127 2q14.1 2 113406722T> A null L H 68 68 missense 0.296 benign 0.02 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs761160628 2q14.1 2 113406731A> G null Y C 71 71 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1381135738 2q14.1 2 113406734C> T null A V 72 72 missense 0.013 benign 0.52 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed,gnomAD rs891405578 2q14.1 2 113406736G> C null A P 73 73 missense 0.409 benign 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed,gnomAD rs891405578 2q14.1 2 113406736G> A null A T 73 73 missense 0.166 benign 0.1 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed,gnomAD rs1006133756 2q14.1 2 113406739T> A null S T 74 74 missense 0.052 benign 0.26 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs772747575 2q14.1 2 113406747G> C null L F 76 76 missense 0.802 possibly damaging 0.02 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed rs1341599594 2q14.1 2 113406746T> C null L S 76 76 missense 0.787 possibly damaging 0.02 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) Ensembl rs1558859255 2q14.1 2 113406748C> T null Q * 77 77 stop gained 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs529919179 2q14.1 2 113406752C> A null S * 78 78 3.99E-4 stop gained 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs529919179 2q14.1 2 113406752C> T null S L 78 78 3.99E-4 missense 0.304 benign 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1262449887 2q14.1 2 113406751T> A null S T 78 78 missense 0.009 benign 0.31 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1250578475 2q14.1 2 113406755G> A null G E 79 79 missense 0.737 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1285044319 2q14.1 2 113406754G> C null G R 79 79 missense 0.796 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed rs1363263749 2q14.1 2 113406758T> C null V A 80 80 missense 0.32 benign 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed rs1421136515 2q14.1 2 113406757G> A null V I 80 80 missense 0.1 benign 0.11 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1430920790 2q14.1 2 113406760C> T null P S 81 81 missense 0.316 benign 0.02 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) Ensembl rs1027781906 2q14.1 2 113406763T> C null S P 82 82 missense 0.404 benign 0.04 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs550066266 2q14.1 2 113406767G> C null R P 83 83 2.0E-4 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs550066266 2q14.1 2 113406767G> A null R Q 83 83 2.0E-4 missense 0.361 benign 0.03 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs767415057 2q14.1 2 113406766C> T null R W 83 83 missense 0.665 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs757437442 2q14.1 2 113406785C> G null S C 89 89 missense 0.414 benign 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1298856399 2q14.1 2 113406784T> C null S P 89 89 missense 0.3 benign 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs562833633 2q14.1 2 113406787G> A null G R 90 90 2.0E-4 missense 0.728 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs772486434 2q14.1 2 113406799A> G null T A 94 94 missense 0.935 probably damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs780376652 2q14.1 2 113406800C> T null T I 94 94 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1206510326 2q14.1 2 113406806C> G null T S 96 96 missense 0.324 benign 0.05 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs747555180 2q14.1 2 113406808A> T null I F 97 97 missense 0.705 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs769168109 2q14.1 2 113406809T> C null I T 97 97 missense 0.749 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs747555180 2q14.1 2 113406808A> G null I V 97 97 missense 0.662 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs990690879 2q14.1 2 113406816C> G null S R 99 99 missense 0.427 benign 0.04 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) gnomAD rs1490407053 2q14.1 2 113406818T> C null L P 100 100 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed rs967250604 2q14.1 2 113406822G> C null Q H 101 101 missense 0.871 possibly damaging 0.01 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs772621693 2q14.1 2 113406823C> G null P A 102 102 missense 0.048 benign 0.45 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs762466525 2q14.1 2 113406824C> T null P L 102 102 missense 0.109 benign 0.02 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs781429717 2q14.1 2 113406826_113406827insCAGCCT G null E A 103 103 stop gained 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs143104621 2q14.1 2 113406830A> G null D G 104 104 2.0E-4 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs143104621 2q14.1 2 113406830A> T null D V 104 104 2.0E-4 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs376296148 2q14.1 2 113406833T> C null V A 105 105 5.99E-4 missense 0.005 benign 0.74 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs752505286 2q14.1 2 113406838A> G null T A 107 107 missense 0.048 benign 0.06 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs571812518 2q14.1 2 113406846C> A null Y * 109 109 2.0E-4 stop gained 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed rs1402162154 2q14.1 2 113406851T> A null L Q 111 111 missense 0.0 benign 1.0 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC rs778849414 2q14.1 2 113406862A> G null T A 115 115 missense 0.005 benign 0.03 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs758589079 2q14.1 2 113406865A> G null T A 116 116 missense 0.003 benign 0.46 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs747327613 2q14.1 2 113406866C> A null T N 116 116 missense 0.003 benign 0.3 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs758589079 2q14.1 2 113406865A> C null T P 116 116 missense 0.013 benign 0.19 tolerated 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) ExAC,gnomAD rs755453037 2q14.1 2 113406869C> T null P L 117 117 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D4 IGKV1OR2-108 Immunoglobulin kappa variable 1/OR2-108 (non-functional) (Fragment) TOPMed,gnomAD rs916573801 2q14.1 2 113406868C> T null P S 117 117 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1250555152 1q32.1 1 206473233G> C null Q H 2 2 missense 0.891 possibly damaging 0.07 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1315790995 1q32.1 1 206473232A> G null Q R 2 2 missense 0.373 benign 0.76 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1233452347 1q32.1 1 206473235G> A null S N 3 3 missense 0.999 probably damaging 0.14 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1332453725 1q32.1 1 206473241C> A null A D 5 5 missense 0.355 benign 0.41 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782638358 1q32.1 1 206473240G> A null A T 5 5 missense 0.02 benign 0.64 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1332453725 1q32.1 1 206473241C> T null A V 5 5 missense 0.02 benign 0.29 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782299835 1q32.1 1 206473254G> T null W C 9 9 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1553384268 1q32.1 1 206473258A> G null T A 11 11 missense 0.205 benign 0.15 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384271 1q32.1 1 206473261G> C null D H 12 12 missense 0.067 benign 0.05 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs771328607 1q32.1 1 206473266C> A null D E 13 13 missense 0.971 probably damaging 0.26 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782356770 1q32.1 1 206473273G> A null G R 16 16 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1439475051 1q32.1 1 206473280G> A null G E 18 18 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384294 1q32.1 1 206473303G> T null A S 26 26 missense 0.272 benign 0.03 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384294 1q32.1 1 206473303G> A null A T 26 26 missense 0.687 possibly damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384299 1q32.1 1 206473304C> T null A V 26 26 missense 0.687 possibly damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1396141437 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206473306C> T null R C 27 27 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384304 1q32.1 1 206473307G> A null R H 27 27 missense 0.923 probably damaging 0.04 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1173541599 1q32.1 1 206473314G> T null K N 29 29 missense 0.944 probably damaging 0.02 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384574 1q32.1 1 206474331A> C null K Q 30 30 missense 0.965 probably damaging 0.03 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384578 1q32.1 1 206474335C> G null S C 31 31 missense 0.967 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384578 1q32.1 1 206474335C> A null S Y 31 31 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs549538401 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474337G> A null G R 32 32 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1254928806 1q32.1 1 206474344T> G null L R 34 34 missense 0.813 possibly damaging 0.31 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,TOPMed,gnomAD rs139083235 1q32.1 1 206474343C> G null L V 34 34 missense 0.06 benign 0.47 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1186805906 1q32.1 1 206474346G> C null V L 35 35 missense 0.891 possibly damaging 0.02 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs781957364 1q32.1 1 206474352G> A null V M 37 37 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1447034305 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474367A> G null T A 42 42 missense 0.007 benign 0.71 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1285749873 1q32.1 1 206474370A> G null T A 43 43 missense 0.0 benign 1.0 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782264666 1q32.1 1 206474377A> T null Y F 45 45 missense 0.403 benign 0.3 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384595 1q32.1 1 206474380T> C null L P 46 46 missense 0.708 possibly damaging 0.13 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs56035621 1q32.1 1 206474379C> G null L V 46 46 3.99E-4 missense 0.033 benign 0.32 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781921697 1q32.1 1 206474383G> A null R Q 47 47 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367771392 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474382C> T null R W 47 47 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782098949 1q32.1 1 206474385C> A null P T 48 48 missense 0.982 probably damaging 0.04 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143140330 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474388C> T null R C 49 49 missense 0.827 possibly damaging 0.17 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150428746 1q32.1 1 206474389G> A null R H 49 49 missense 0.003 benign 0.56 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150428746 1q32.1 1 206474389G> T null R L 49 49 missense 0.006 benign 0.67 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782440026 1q32.1 1 206474391G> A null E K 50 50 missense 0.511 possibly damaging 0.06 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782219958 1q32.1 1 206474400G> A null V M 53 53 missense 0.015 benign 1.0 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1462772133 1q32.1 1 206474406G> A null E K 55 55 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs903641024 1q32.1 1 206474411T> G null F L 56 56 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782640857 1q32.1 1 206474422G> A null R Q 60 60 missense 0.733 possibly damaging 0.15 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782526732 1q32.1 1 206474421C> T null R W 60 60 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1254120155 1q32.1 1 206474437A> G null Q R 65 65 missense 0.007 benign 0.16 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs56278223 1q32.1 1 206474442A> G null I V 67 67 missense 0.247 benign 0.17 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781937364 1q32.1 1 206474445G> A null V I 68 68 missense 0.31 benign 0.12 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1219691632 1q32.1 1 206474449A> G null K R 69 69 missense 0.159 benign 0.14 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs201577746 1q32.1 1 206474457G> A null A T 72 72 missense 0.365 benign 0.07 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782361671 1q32.1 1 206474458C> T null A V 72 72 missense 0.942 probably damaging 0.01 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs372072572 1q32.1 1 206474460G> T null V L 73 73 missense 0.779 possibly damaging 0.18 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,TOPMed,gnomAD rs372072572 1q32.1 1 206474460G> A null V M 73 73 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs534317345 1q32.1 1 206474469A> G null T A 76 76 2.0E-4 missense 0.03 benign 0.15 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs554685342 1q32.1 1 206474470C> T null T M 76 76 2.0E-4 missense 0.056 benign 0.1 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs202128741 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474868G> A null G R 78 78 2.0E-4 missense 0.02 benign 0.51 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782466362 1q32.1 1 206474875G> A null R Q 80 80 missense 0.024 benign 0.26 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149591181 1q32.1 1 206474874C> T null R W 80 80 3.99E-4 missense 0.827 possibly damaging 0.02 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384816 1q32.1 1 206474879G> C null Q H 81 81 missense 0.099 benign 0.17 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs956532765 1q32.1 1 206474881A> G null K R 82 82 missense 0.12 benign 0.08 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1300049768 1q32.1 1 206474895G> T null E * 87 87 stop gained 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1370253843 1q32.1 1 206474898T> C null Y H 88 88 missense 0.249 benign 0.04 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1174339324 1q32.1 1 206474911G> A null G E 92 92 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384828 1q32.1 1 206474915C> A null S R 93 93 missense 0.333 benign 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384828 1q32.1 1 206474915C> G null S R 93 93 missense 0.333 benign 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1396790508 1q32.1 1 206474919C> A null L M 95 95 missense 0.596 possibly damaging 0.21 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782184393 1q32.1 1 206474922A> G null S G 96 96 missense 0.281 benign 0.05 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ESP,ExAC,gnomAD rs372489938 1q32.1 1 206474923G> C null S T 96 96 missense 0.03 benign 0.48 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs917655681 1q32.1 1 206474931G> A null E K 99 99 missense 0.925 probably damaging 0.15 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384847 1q32.1 1 206474943A> G null N D 103 103 missense 0.959 probably damaging 0.01 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA rs782265859 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474946G> A null A T 104 104 missense 0.247 benign 0.18 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782028061 1q32.1 1 206474950T> G null F C 105 105 missense 0.992 probably damaging 0.2 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs949192935 1q32.1 1 206474955C> A null L M 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782092694 1q32.1 1 206474959C> G null P R 108 108 missense 0.578 possibly damaging 0.08 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs781913394 1q32.1 1 206474958C> T null P S 108 108 missense 0.03 benign 0.27 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384881 1q32.1 1 206474962A> T null E V 109 109 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782723974 1q32.1 1 206474965A> G null D G 110 110 missense 0.003 benign 0.07 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1210947605 1q32.1 1 206474964G> A null D N 110 110 missense 0.012 benign 0.12 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1558473109 1q32.1 1 206474973C> G null L V 113 113 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1349445353 1q32.1 1 206474976G> A null V M 114 114 missense 0.8 possibly damaging 0.08 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384904 1q32.1 1 206474979G> T null V L 115 115 missense 0.205 benign 0.19 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,NCI-TCGA,gnomAD rs782549877 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206474985C> T null R C 117 117 missense 0.03 benign 0.01 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55721947 1q32.1 1 206474986G> A null R H 117 117 2.0E-4 missense 0.012 benign 0.24 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55721947 1q32.1 1 206474986G> C null R P 117 117 2.0E-4 missense 0.733 possibly damaging 0.01 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384909 1q32.1 1 206474988T> A null C S 118 118 missense 0.272 benign 0.46 tolerated 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1336670825 1q32.1 1 206474994G> C null G R 120 120 missense 0.0 benign 0.01 deleterious 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1309595609 1q32.1 1 206475001C> T null P L 122 122 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384913 1q32.1 1 206475000C> A null P T 122 122 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,TOPMed,gnomAD rs201662782 1q32.1 1 206475003C> T null L F 123 123 7.99E-4 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782218361 1q32.1 1 206475010T> C null V A 125 125 missense 0.0 unknown 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782522605 1q32.1 1 206475016C> T null A V 127 127 missense 0.0 unknown 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs1170675146 1q32.1 1 206475019C> T null S F 128 128 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782634650 1q32.1 1 206475022C> T null T I 129 129 missense 0.0 unknown 0.1 tolerated - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782402615 1q32.1 1 206475025T> A null L H 130 130 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782402615 1q32.1 1 206475025T> G null L R 130 130 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,ExAC,gnomAD rs577006084 1q32.1 1 206475024C> G null L V 130 130 7.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed,gnomAD rs1471513841 1q32.1 1 206475027A> G null R G 131 131 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782593307 1q32.1 1 206475028G> A null R K 131 131 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1553384921 1q32.1 1 206475030C> T null P S 132 132 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,TOPMed,gnomAD rs782169050 1q32.1 1 206475034C> T null A V 133 133 missense 0.0 unknown 0.16 tolerated - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon gnomAD rs1553384923 1q32.1 1 206475036G> T null A S 134 134 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs781950350 1q32.1 1 206475040G> A null G D 135 135 missense 0.97 probably damaging 0.14 tolerated - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon ExAC,gnomAD rs782128550 1q32.1 1 206475042C> A null L M 136 136 missense 0.001 benign 0.03 deleterious - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon Ensembl rs1558473251 1q32.1 1 206475045G> C null G R 137 137 missense 0.001 benign 0.1 tolerated - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 1000Genomes,TOPMed,gnomAD rs559622854 1q32.1 1 206475061G> T null G V 142 142 3.99E-4 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A075B7D5 IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon TOPMed rs891189401 1q32.1 1 206475082C> T null A V 149 149 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1339842171 17q12 17 35820427T> C null S P 3 3 missense 0.003 benign 0.09 tolerated - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147936141 17q12 17 35820431C> T null S L 4 4 2.0E-4 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1044218864 17q12 17 35822656C> T null P S 12 12 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368588705 17q12 17 35822659T> G null S A 13 13 2.0E-4 missense 0.351 benign 0.0 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs766945476 17q12 17 35822663A> G null Y C 14 14 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs781461546 17q12 17 35822670G> T null Q H 16 16 missense 0.496 possibly damaging 0.06 tolerated - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs754279768 17q12 17 35822671C> G null P A 17 17 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs755066520 17q12 17 35822675A> G null D G 18 18 missense 0.027 benign 0.02 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs200841311 17q12 17 35822678A> G null Y C 19 19 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs765284784 17q12 17 35822677T> C null Y H 19 19 missense 0.694 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1212862475 17q12 17 35822680G> C null G R 20 20 missense 0.942 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs758610893 17q12 17 35822686C> T null Q * 22 22 stop gained 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1283356639 17q12 17 35822695T> G null Y D 25 25 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,gnomAD rs755825241 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35822699A> G null D G 26 26 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1351821253 17q12 17 35822701C> G null Q E 27 27 missense 0.021 benign 0.03 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs750484421 17q12 17 35822704C> G null Q E 28 28 missense 0.04 benign 0.0 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs756643512 17q12 17 35822705A> G null Q R 28 28 missense 0.06 benign 0.0 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs749226539 17q12 17 35822711G> A null G D 30 30 missense 0.998 probably damaging 0.1 tolerated - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs780144032 17q12 17 35822710G> A null G S 30 30 missense 0.998 probably damaging 0.02 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140601071 17q12 17 35822714A> G null Y C 31 31 0.001597 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D6 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs962733364 17q12 17 35822717A> G null D G 32 32 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1370679444 15q11.1 15 19988109A> C null F L 3 3 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs538091081 15q11.1 15 19988111A> G null F L 3 3 2.0E-4 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs754389274 15q11.1 15 19988108C> G null G R 4 4 missense 0.663 possibly damaging 0.36 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs755962148 15q11.1 15 19988102T> C null S G 6 6 missense 0.987 probably damaging 0.1 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs144975368 15q11.1 15 19988101C> T null S N 6 6 0.002596 missense 0.994 probably damaging 0.14 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs555071869 15q11.1 15 19988100G> C null S R 6 6 3.99E-4 missense 0.998 probably damaging 0.11 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1343723144 15q11.1 15 19988097C> T null W * 7 7 stop gained 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1039215173 15q11.1 15 19988095A> G null V A 8 8 missense 0.083 benign 0.03 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1182931446 15q11.1 15 19988096C> T null V I 8 8 missense 0.003 benign 0.22 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1468744206 15q11.1 15 19988092A> C null F C 9 9 missense 0.852 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1274651577 15q11.1 15 19988091G> C null F L 9 9 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1178243071 15q11.1 15 19988089A> G null L P 10 10 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs757171118 15q11.1 15 19988086A> G null V A 11 11 missense 0.007 benign 0.05 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1395841215 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q11.1 15 19988087C> A null V F 11 11 missense 0.452 possibly damaging 0.1 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs764159777 15q11.1 15 19988079A> C null I M 13 13 missense 0.014 benign 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs17112543 15q11.1 15 19988081T> C null I V 13 13 missense 0.003 benign 0.27 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) Ensembl rs1126426 15q11.1 15 19988074T> C null K R 15 15 missense 0.017 benign 0.21 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs777521731 15q11.1 15 19987968C> T null G D 16 16 missense 1.0 probably damaging 0.04 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1410357959 15q11.1 15 19988072C> G null G R 16 16 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1404385063 15q11.1 15 19987966C> A null V F 17 17 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1466430591 15q11.1 15 19987963G> A null Q * 18 18 stop gained 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1466430591 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q11.1 15 19987963G> T null Q K 18 18 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1428360631 15q11.1 15 19987955C> A null E D 20 20 missense 0.639 possibly damaging 0.09 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) Ensembl rs1126428 15q11.1 15 19987957C> G null E Q 20 20 missense 0.249 benign 0.04 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,gnomAD rs373591141 15q11.1 15 19987954C> T null V M 21 21 2.0E-4 missense 0.097 benign 0.04 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs945370143 15q11.1 15 19987951G> C null Q E 22 22 missense 0.056 benign 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs3196281 15q11.1 15 19987945C> T null V M 24 24 missense 0.084 benign 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs185490385 15q11.1 15 19987942C> T null E K 25 25 2.0E-4 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,gnomAD rs550782977 15q11.1 15 19987935C> G null G A 27 27 2.0E-4 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,gnomAD rs550782977 15q11.1 15 19987935C> T null G E 27 27 2.0E-4 missense 1.0 probably damaging 0.03 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1180973171 15q11.1 15 19987936C> G null G R 27 27 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs773880483 15q11.1 15 19987933C> T null G R 28 28 missense 0.286 benign 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1483176712 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q11.1 15 19987923A> C null V G 31 31 missense 0.492 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs957980688 15q11.1 15 19987924C> G null V L 31 31 missense 0.024 benign 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs772440393 15q11.1 15 19987921G> A null Q * 32 32 stop gained 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1330217804 15q11.1 15 19987917G> C null P R 33 33 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1469956441 15q11.1 15 19987914C> T null G E 34 34 missense 0.142 benign 0.05 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs762568716 15q11.1 15 19987915C> T null G R 34 34 missense 0.825 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1033506444 15q11.1 15 19987912C> G null G R 35 35 missense 0.142 benign 0.04 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs774846607 15q11.1 15 19987896G> T null S * 40 40 stop gained 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs769286480 15q11.1 15 19987894A> C null C G 41 41 missense 0.278 benign 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,NCI-TCGA,gnomAD rs769286480 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 15q11.1 15 19987894A> G null C R 41 41 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1334573469 15q11.1 15 19987890G> T null A E 42 42 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1405349809 15q11.1 15 19987891C> T null A T 42 42 missense 0.001 benign 0.05 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1334573469 15q11.1 15 19987890G> A null A V 42 42 missense 0.003 benign 0.25 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1421324680 15q11.1 15 19987887G> A null A V 43 43 missense 0.143 benign 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC rs745522033 15q11.1 15 19987882C> A null G * 45 45 stop gained 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs138226818 15q11.1 15 19987881C> T null G E 45 45 0.01438 missense 1.0 probably damaging 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1157663221 15q11.1 15 19987875G> T null T N 47 47 missense 0.287 benign 0.03 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs770733711 15q11.1 15 19987865G> T null D E 50 50 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) Ensembl rs777906213 15q11.1 15 19987867C> T null D N 50 50 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1187706975 15q11.1 15 19987864G> A null H Y 51 51 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs561344298 15q11.1 15 19987859G> T null Y * 52 52 3.99E-4 stop gained 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1419603555 15q11.1 15 19987861A> C null Y D 52 52 missense 0.343 benign 0.17 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1241886732 15q11.1 15 19987856C> T null M I 53 53 missense 0.16 benign 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1004382221 15q11.1 15 19987854C> T null S N 54 54 missense 0.0 benign 0.5 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1465655673 15q11.1 15 19987850C> T null W * 55 55 stop gained 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1465655673 15q11.1 15 19987850C> G null W C 55 55 missense 0.965 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs777806410 15q11.1 15 19987852A> G null W R 55 55 missense 0.099 benign 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs758263656 15q11.1 15 19987849C> T null V I 56 56 missense 0.01 benign 0.14 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs748319001 15q11.1 15 19987846G> A null R C 57 57 missense 0.995 probably damaging 0.06 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs778872038 15q11.1 15 19987845C> T null R H 57 57 missense 0.254 benign 0.03 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs778872038 15q11.1 15 19987845C> A null R L 57 57 missense 0.119 benign 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs531679079 15q11.1 15 19987841C> G null Q H 58 58 missense 0.884 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1026629148 15q11.1 15 19987840C> A null A S 59 59 missense 0.18 benign 0.06 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1026629148 15q11.1 15 19987840C> T null A T 59 59 missense 0.014 benign 0.07 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1312858195 15q11.1 15 19987835T> A null Q H 60 60 missense 0.158 benign 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1337375970 15q11.1 15 19987833C> T null G E 61 61 missense 1.0 probably damaging 0.07 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs754146407 15q11.1 15 19987830T> C null K R 62 62 missense 0.037 benign 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs143586746 15q11.1 15 19987827C> T null G E 63 63 3.99E-4 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1365662482 15q11.1 15 19987828C> G null G R 63 63 missense 1.0 probably damaging 0.06 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs756597981 15q11.1 15 19987824A> G null L P 64 64 missense 0.043 benign 0.06 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1269307223 15q11.1 15 19987817C> A null L F 66 66 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs750789885 15q11.1 15 19987819A> T null L M 66 66 missense 0.013 benign 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs768139964 15q11.1 15 19987812C> G null G A 68 68 missense 0.015 benign 1.0 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs768139964 15q11.1 15 19987812C> T null G D 68 68 missense 0.589 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1191060351 15q11.1 15 19987798T> C null K E 73 73 missense 0.043 benign 0.43 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1450576815 15q11.1 15 19987795C> A null A S 74 74 missense 0.011 benign 0.29 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1450576815 15q11.1 15 19987795C> T null A T 74 74 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs762236685 15q11.1 15 19987794G> A null A V 74 74 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs527650120 15q11.1 15 19987790G> C null N K 75 75 2.0E-4 missense 0.003 benign 0.08 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,gnomAD rs180811954 15q11.1 15 19987788C> A null S I 76 76 2.0E-4 missense 0.456 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,gnomAD rs180811954 15q11.1 15 19987788C> T null S N 76 76 2.0E-4 missense 0.003 benign 0.26 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs189916180 15q11.1 15 19987782G> T null T K 78 78 0.003994 missense 0.001 benign 0.03 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs189916180 15q11.1 15 19987782G> C null T R 78 78 0.003994 missense 0.208 benign 0.04 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs544379038 15q11.1 15 19987777C> T null E K 80 80 0.001198 missense 0.213 benign 0.26 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs755134762 15q11.1 15 19987771C> A null A S 82 82 missense 0.066 benign 0.1 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs755134762 15q11.1 15 19987771C> T null A T 82 82 missense 0.449 possibly damaging 0.09 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1323843737 15q11.1 15 19987767G> T null A E 83 83 missense 0.71 possibly damaging 0.13 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1332558289 15q11.1 15 19987768C> A null A S 83 83 missense 0.072 benign 0.05 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1156258623 15q11.1 15 19987756C> T null G S 87 87 missense 0.942 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs750597194 15q11.1 15 19987753T> C null R G 88 88 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs757599761 15q11.1 15 19987751T> A null R S 88 88 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1479219841 15q11.1 15 19987744T> C null I V 91 91 missense 0.974 probably damaging 0.03 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs764560498 15q11.1 15 19987740G> A null S L 92 92 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs752025624 15q11.1 15 19987741A> G null S P 92 92 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs759084158 15q11.1 15 19987738T> C null R G 93 93 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1347831204 15q11.1 15 19987737C> T null R K 93 93 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs776113659 15q11.1 15 19987735C> T null E K 94 94 missense 0.047 benign 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs766077022 15q11.1 15 19987732C> T null D N 95 95 missense 0.811 possibly damaging 1.0 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs766077022 15q11.1 15 19987732C> A null D Y 95 95 missense 0.96 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1272263222 15q11.1 15 19987728G> C null S * 96 96 stop gained 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs760334766 15q11.1 15 19987725T> C null K R 97 97 missense 0.317 benign 0.03 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1386520705 15q11.1 15 19987721G> T null N K 98 98 missense 0.239 benign 0.03 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs772855676 15q11.1 15 19987719G> A null T M 99 99 missense 0.67 possibly damaging 0.23 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs62009005 15q11.1 15 19987717G> T null L M 100 100 0.04653 missense 0.608 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1482160208 15q11.1 15 19987703C> T null M I 104 104 missense 0.966 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs145555258 15q11.1 15 19987705T> C null M V 104 104 0.003594 missense 0.966 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1180999861 15q11.1 15 19987700G> C null S R 105 105 missense 0.051 benign 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1250832106 15q11.1 15 19987699T> C null N D 106 106 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs4931856 15q11.1 15 19987698T> C null N S 106 106 0.2823 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs980701224 15q11.1 15 19987687C> A null E * 110 110 stop gained 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs980701224 15q11.1 15 19987687C> T null E K 110 110 missense 0.993 probably damaging 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,gnomAD rs539457566 15q11.1 15 19987682G> T null D E 111 111 2.0E-4 missense 0.991 probably damaging 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs781424325 15q11.1 15 19987681A> C null L V 112 112 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) gnomAD rs1183136644 15q11.1 15 19987678C> A null A S 113 113 missense 0.672 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed rs1174835468 15q11.1 15 19987677G> A null A V 113 113 missense 0.823 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs751920194 15q11.1 15 19987674A> C null V G 114 114 missense 0.459 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs757609455 15q11.1 15 19987675C> G null V L 114 114 missense 0.001 benign 0.24 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs757609455 15q11.1 15 19987675C> T null V M 114 114 missense 0.043 benign 0.21 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) TOPMed,gnomAD rs1444123130 15q11.1 15 19987671T> C null Y C 115 115 missense 0.965 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs758893671 15q11.1 15 19987667G> C null Y * 116 116 stop gained 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs149728605 15q11.1 15 19987669A> G null Y H 116 116 0.00599 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs760194231 15q11.1 15 19987666A> C null C G 117 117 missense 0.867 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs760194231 15q11.1 15 19987666A> G null C R 117 117 missense 0.075 benign 0.01 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs760194231 15q11.1 15 19987666A> T null C S 117 117 missense 0.564 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs750067166 15q11.1 15 19987665C> T null C Y 117 117 missense 0.957 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs761555969 15q11.1 15 19987662G> C null A G 118 118 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs761555969 15q11.1 15 19987662G> A null A V 118 118 missense 0.003 benign 0.1 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) 1000Genomes,ExAC,gnomAD rs529068484 15q11.1 15 19987660T> C null R G 119 119 2.0E-4 missense 0.399 benign 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs768774734 15q11.1 15 19987659C> T null R K 119 119 missense 0.009 benign 0.18 tolerated - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,gnomAD rs762984872 15q11.1 15 19987658T> A null R S 119 119 missense 0.399 benign 0.0 deleterious - low confidence 0 A0A075B7D8 IGHV3OR15-7 Immunoglobulin heavy variable 3/OR15-7 (pseudogene) (Fragment) ExAC,TOPMed,gnomAD rs768774734 15q11.1 15 19987659C> G null R T 119 119 missense 0.568 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1339842171 17q12 17 35820427T> C null S P 3 3 missense 0.006 benign 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147936141 17q12 17 35820431C> T null S L 4 4 2.0E-4 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1044218864 17q12 17 35822656C> T null P S 12 12 missense 0.013 benign 0.06 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368588705 17q12 17 35822659T> G null S A 13 13 2.0E-4 missense 0.554 possibly damaging 0.06 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs766945476 17q12 17 35822663A> G null Y C 14 14 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs781461546 17q12 17 35822670G> T null Q H 16 16 missense 0.693 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs754279768 17q12 17 35822671C> G null P A 17 17 missense 0.001 benign 0.17 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs755066520 17q12 17 35822675A> G null D G 18 18 missense 0.059 benign 0.1 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs200841311 17q12 17 35822678A> G null Y C 19 19 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs765284784 17q12 17 35822677T> C null Y H 19 19 missense 0.838 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1212862475 17q12 17 35822680G> C null G R 20 20 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs758610893 17q12 17 35822686C> T null Q * 22 22 stop gained 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1283356639 17q12 17 35822695T> G null Y D 25 25 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,NCI-TCGA,gnomAD rs755825241 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35822699A> G null D G 26 26 missense 0.0 benign 0.57 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1351821253 17q12 17 35822701C> G null Q E 27 27 missense 0.047 benign 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N Ensembl rs750484421 17q12 17 35822704C> G null Q E 28 28 missense 0.088 benign 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N Ensembl rs756643512 17q12 17 35822705A> G null Q R 28 28 missense 0.127 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs749226539 17q12 17 35822711G> A null G D 30 30 missense 0.999 probably damaging 0.04 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs780144032 17q12 17 35822710G> A null G S 30 30 missense 0.999 probably damaging 0.17 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140601071 17q12 17 35822714A> G null Y C 31 31 0.001597 missense 0.997 probably damaging 0.04 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs962733364 17q12 17 35822717A> G null D G 32 32 missense 0.993 probably damaging 0.55 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs747804787 17q12 17 35822719C> G null Q E 33 33 missense 0.088 benign 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs747804787 17q12 17 35822719C> A null Q K 33 33 missense 0.088 benign 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1472037899 17q12 17 35822726A> G null Q R 35 35 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs772703762 17q12 17 35822729G> A null G D 36 36 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs771783055 17q12 17 35822728G> A null G S 36 36 missense 0.994 probably damaging 0.15 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,gnomAD rs182638009 17q12 17 35822732C> T null S L 37 37 3.99E-4 missense 0.943 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs777176556 17q12 17 35822738A> C null D A 39 39 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs777176556 17q12 17 35822738A> G null D G 39 39 missense 0.081 benign 0.27 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1221391352 17q12 17 35822740G> C null E Q 40 40 missense 0.001 benign 0.72 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1417413418 17q12 17 35822743C> G null Q E 41 41 missense 0.006 benign 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs954155077 17q12 17 35822749A> G null N D 43 43 missense 0.059 benign 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs954155077 17q12 17 35822749A> T null N Y 43 43 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1157014378 17q12 17 35822753A> G null Y C 44 44 missense 0.823 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1421107593 17q12 17 35822752T> G null Y D 44 44 missense 0.776 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1302628988 17q12 17 35822756A> G null D G 45 45 missense 0.0 benign 0.6 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,TOPMed,gnomAD rs369432616 17q12 17 35822759A> T null Q L 46 46 missense 0.047 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,TOPMed,gnomAD rs369432616 17q12 17 35822759A> G null Q R 46 46 missense 0.086 benign 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs765336144 17q12 17 35822765A> T null H L 48 48 missense 0.117 benign 0.14 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1192825486 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35822768A> G null D G 49 49 missense 0.981 probably damaging 0.24 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs752796451 17q12 17 35822774A> G null Y C 51 51 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1241264482 17q12 17 35822777G> A null S N 52 52 missense 0.0 benign 0.73 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1214182865 17q12 17 35822783A> C null N T 54 54 missense 0.987 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs762891086 17q12 17 35822785C> A null Q K 55 55 missense 0.954 probably damaging 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1359998232 17q12 17 35822788C> G null Q E 56 56 missense 0.954 probably damaging 0.23 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs764407967 17q12 17 35822791T> A null S T 57 57 missense 0.325 benign 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs755949830 17q12 17 35822795A> G null Y C 58 58 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N Ensembl rs78280513 17q12 17 35822803C> A null Q K 61 61 missense 0.954 probably damaging 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs779992517 17q12 17 35822804A> T null Q L 61 61 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs777740721 17q12 17 35822807G> A null R K 62 62 missense 0.028 benign 0.34 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs754944712 17q12 17 35822813A> C null N T 64 64 missense 0.033 benign 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs140961224 17q12 17 35822816A> G null Y C 65 65 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1317931466 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35822824C> T null H Y 68 68 missense 0.759 possibly damaging 0.28 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1278572423 17q12 17 35824082C> A null D E 72 72 missense 0.219 benign 0.06 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,TOPMed,gnomAD rs550494407 17q12 17 35824084G> A null R H 73 73 2.0E-4 missense 0.139 benign 0.15 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP rs376365511 17q12 17 35824086C> T null R C 74 74 missense 0.954 probably damaging 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1273517576 17q12 17 35824087G> A null R H 74 74 missense 0.014 benign 0.1 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1263461100 17q12 17 35824093T> A null V E 76 76 missense 0.492 possibly damaging 0.06 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1211697448 17q12 17 35824092G> A null V M 76 76 missense 0.142 benign 0.45 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC rs752427176 17q12 17 35824102du p null Y * 79 79 stop gained 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs200557877 17q12 17 35824123A> G null Y C 86 86 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1231393292 17q12 17 35824125G> A null G S 87 87 missense 0.971 probably damaging 0.28 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs746261562 17q12 17 35824129G> A null G E 88 88 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,NCI-TCGA,TOPMed rs780771102 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35824128G> A null G R 88 88 missense 0.533 possibly damaging 0.05 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs746261562 17q12 17 35824129G> T null G V 88 88 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1417534294 17q12 17 35824132C> G null S * 89 89 stop gained 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs200567401 17q12 17 35824131T> G null S A 89 89 missense 0.697 possibly damaging 0.08 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1460242058 17q12 17 35824135A> G null Q R 90 90 missense 0.155 benign 0.1 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,gnomAD rs529493663 17q12 17 35824146A> G null R G 94 94 2.0E-4 missense 0.712 possibly damaging 0.05 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,TOPMed rs372463855 17q12 17 35824149G> A null G R 95 95 missense 1.0 probably damaging 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1379881863 17q12 17 35824150G> T null G V 95 95 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs761936944 17q12 17 35824152C> G null R G 96 96 missense 0.057 benign 0.07 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs892678406 17q12 17 35824153G> A null R H 96 96 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1416189464 17q12 17 35824170G> A null D N 102 102 missense 0.997 probably damaging 0.08 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs764931450 17q12 17 35824185A> G null M V 107 107 missense 0.841 possibly damaging 0.14 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed rs376331245 17q12 17 35824198G> A null S N 111 111 missense 0.774 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs980403927 17q12 17 35833917C> T null R C 115 115 missense 0.988 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1268378138 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35833918G> A null R H 115 115 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs760977388 17q12 17 35833921G> A null G D 116 116 missense 1.0 probably damaging 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs773631114 17q12 17 35833920G> A null G S 116 116 missense 1.0 probably damaging 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs760977388 17q12 17 35833921G> T null G V 116 116 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1484773104 17q12 17 35833934T> G null N K 120 120 missense 0.998 probably damaging 0.51 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1207133479 17q12 17 35833939G> A null G D 122 122 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs747280253 17q12 17 35834566G> A null G D 123 123 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs201942273 17q12 17 35834570C> G null H Q 124 124 missense 0.076 benign 0.26 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC rs144989857 17q12 17 35834571A> G null R G 125 125 missense 0.983 probably damaging 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1183500233 17q12 17 35834578A> C null Y S 127 127 missense 0.869 possibly damaging 0.09 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1452778860 17q12 17 35834589A> G null T A 131 131 missense 0.12 benign 0.8 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes rs549951201 17q12 17 35834590C> T null T I 131 131 2.0E-4 missense 0.599 possibly damaging 0.29 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs768438384 17q12 17 35834595G> T null A S 133 133 missense 0.213 benign 0.2 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1233113159 17q12 17 35836132A> T null D V 134 134 missense 0.234 benign 0.09 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1026350400 17q12 17 35836138A> G null E G 136 136 missense 0.976 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1205847839 17q12 17 35836152G> A null D N 141 141 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1251330845 17q12 17 35836161A> G null T A 144 144 missense 0.999 probably damaging 0.19 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs746088434 17q12 17 35836164A> G null I V 145 145 missense 0.922 probably damaging 0.26 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs138604744 17q12 17 35836197A> G null T A 156 156 missense 0.062 benign 0.39 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1314983510 17q12 17 35836237T> C null I T 169 169 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1347287879 17q12 17 35838424A> G null T A 171 171 missense 0.577 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1462777901 17q12 17 35838427A> G null N D 172 172 missense 0.97 probably damaging 0.21 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1363727105 17q12 17 35838439G> A null G R 176 176 missense 0.634 possibly damaging 0.05 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1304920146 17q12 17 35838445C> G null P A 178 178 missense 0.276 benign 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1469789757 17q12 17 35838446C> T null P L 178 178 missense 0.224 benign 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1410107988 17q12 17 35838450G> C null M I 179 179 missense 0.774 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs773083509 17q12 17 35838448A> G null M V 179 179 missense 0.692 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1184433937 17q12 17 35838464C> T null T I 184 184 missense 0.967 probably damaging 0.13 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs770392612 17q12 17 35838470A> C null K T 186 186 missense 0.834 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs776185724 17q12 17 35838474C> G null D E 187 187 missense 0.089 benign 0.84 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N Ensembl rs923592778 17q12 17 35838479G> A null G E 189 189 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,gnomAD rs540509097 17q12 17 35838509T> A null F Y 199 199 2.0E-4 missense 0.541 possibly damaging 0.58 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs764538455 17q12 17 35838515A> C null D A 201 201 missense 0.822 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs767542954 17q12 17 35838529A> T null K * 206 206 stop gained 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs756121086 17q12 17 35838532G> C null A P 207 207 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1023328946 17q12 17 35842376T> G null F C 217 217 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,gnomAD rs369833136 17q12 17 35842385A> G null N S 220 220 missense 0.164 benign 0.41 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144520577 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35842387A> G null I V 221 221 missense 0.019 benign 0.34 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1304133162 17q12 17 35842400C> G null S C 225 225 missense 0.537 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1189178655 17q12 17 35842436G> A null G D 237 237 missense 0.908 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs772312208 17q12 17 35842439G> T null G V 238 238 missense 0.358 benign 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs761142122 17q12 17 35842447G> A null G S 241 241 missense 0.566 possibly damaging 0.06 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs759576471 17q12 17 35842454G> A null R Q 243 243 missense 0.892 possibly damaging 0.12 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368861464 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35842453C> T null R W 243 243 2.0E-4 missense 0.989 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs765496551 17q12 17 35842456C> T null R * 244 244 stop gained 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs752800231 17q12 17 35842457G> A null R Q 244 244 missense 0.782 possibly damaging 0.05 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N Ensembl rs903373951 17q12 17 35842459G> T null G C 245 245 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs753441803 17q12 17 35844079C> T null R C 246 246 missense 0.704 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs986517085 17q12 17 35844080G> A null R H 246 246 missense 0.801 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs771224081 17q12 17 35844089A> G null Y C 249 249 missense 0.967 probably damaging 0.08 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1207328747 17q12 17 35844093A> T null R S 250 250 missense 0.101 benign 0.22 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs746353802 17q12 17 35844095G> T null G V 251 251 missense 0.888 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs769954060 17q12 17 35844098G> A null R H 252 252 missense 0.921 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs769954060 17q12 17 35844098G> C null R P 252 252 missense 0.854 possibly damaging 0.07 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs775409107 17q12 17 35844101G> A null G E 253 253 missense 0.995 probably damaging 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1245625743 17q12 17 35844104G> A null G D 254 254 missense 0.708 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs764442141 17q12 17 35844111A> C null Q H 256 256 missense 0.916 probably damaging 0.04 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,TOPMed,gnomAD rs368895737 17q12 17 35844119G> A null G D 259 259 missense 0.993 probably damaging 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1376774152 17q12 17 35844131A> G null K R 263 263 missense 0.87 possibly damaging 0.54 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs374463934 17q12 17 35844135T> A null S R 264 264 missense 0.622 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1298161351 17q12 17 35844149G> T null C F 269 269 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1385425941 17q12 17 35844151C> T null P S 270 270 missense 0.859 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs148009008 17q12 17 35844154A> G null N D 271 271 missense 1.0 probably damaging 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs148009008 17q12 17 35844154A> C null N H 271 271 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed rs143482731 17q12 17 35844158C> T null P L 272 272 missense 0.622 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1292954697 17q12 17 35844286C> G null C W 274 274 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs774779964 17q12 17 35844287G> A null G R 275 275 missense 0.99 probably damaging 0.04 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs762094316 17q12 17 35844290A> C null N H 276 276 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,TOPMed,gnomAD rs200512010 17q12 17 35844294T> C null M T 277 277 2.0E-4 missense 0.91 probably damaging 0.07 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs776311001 17q12 17 35844297A> T null N I 278 278 missense 0.937 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1240050231 17q12 17 35844302G> C null A P 280 280 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs756736611 17q12 17 35844303C> T null A V 280 280 missense 0.992 probably damaging 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1323607123 17q12 17 35844305C> T null R * 281 281 stop gained 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1323607123 17q12 17 35844305C> G null R G 281 281 missense 0.985 probably damaging 0.53 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs765087079 17q12 17 35844306G> C null R P 281 281 missense 0.998 probably damaging 0.29 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs765087079 17q12 17 35844306G> A null R Q 281 281 missense 0.988 probably damaging 0.28 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1244721651 17q12 17 35844321A> G null N S 286 286 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1264303915 17q12 17 35844323C> G null Q E 287 287 missense 0.955 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs763593086 17q12 17 35844330A> T null N I 289 289 missense 0.947 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs757966118 17q12 17 35844329A> T null N Y 289 289 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1482601565 17q12 17 35844334G> T null E D 290 290 missense 0.062 benign 0.04 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1179661131 17q12 17 35844335C> T null P S 291 291 missense 0.493 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs751256719 17q12 17 35844338A> G null R G 292 292 missense 0.946 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N Ensembl rs1159683668 17q12 17 35844348A> G null D G 295 295 missense 0.421 benign 0.06 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs147145070 17q12 17 35844347G> A null D N 295 295 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs202180032 17q12 17 35844353C> T null R C 297 297 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs202180032 17q12 17 35844353C> G null R G 297 297 missense 0.978 probably damaging 0.03 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs140268553 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844354G> A null R H 297 297 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,TOPMed,gnomAD rs372454711 17q12 17 35844356C> G null P A 298 298 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs780439108 17q12 17 35844359T> A null S T 299 299 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs375783267 17q12 17 35844363G> A null G E 300 300 missense 0.078 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1301599242 17q12 17 35844480T> G null F C 303 303 missense 0.926 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs71381481 17q12 17 35844483G> A null R Q 304 304 3.99E-4 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,NCI-TCGA,TOPMed,gnomAD rs754444912 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844482C> T null R W 304 304 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1363866728 17q12 17 35844486G> A null G E 305 305 missense 0.23 benign 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1279787383 17q12 17 35844495A> G null Y C 308 308 missense 0.847 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,gnomAD rs200734404 17q12 17 35844497G> A null G S 309 309 2.0E-4 missense 0.014 benign 0.05 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N Ensembl rs1568282239 17q12 17 35844501G> A null G E 310 310 missense 0.587 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs747254712 17q12 17 35844507G> C null R T 312 312 missense 0.101 benign 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,gnomAD rs373505000 17q12 17 35844510G> C null G A 313 313 missense 0.164 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N Ensembl rs1568282291 17q12 17 35844513A> G null Y C 314 314 missense 0.416 benign 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs144954918 17q12 17 35844515A> G null R G 315 315 missense 0.015 benign 0.06 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200175347 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844521C> T null R C 317 317 missense 0.649 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs376580614 17q12 17 35844522G> A null R H 317 317 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376580614 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35844522G> T null R L 317 317 missense 0.253 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1392295438 17q12 17 35844525G> A null G E 318 318 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1056845388 17q12 17 35844524G> A null G R 318 318 missense 0.996 probably damaging 0.07 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,gnomAD rs537797497 17q12 17 35844528G> A null G D 319 319 2.0E-4 missense 0.974 probably damaging 0.04 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs761326413 17q12 17 35844527G> A null G S 319 319 missense 0.943 probably damaging 0.13 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs772779416 17q12 17 35844543G> A null R Q 324 324 missense 0.007 benign 0.07 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N NCI-TCGA,TOPMed,gnomAD rs746865431 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844545G> A null G S 325 325 missense 0.34 benign 0.02 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs554593706 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844548G> A null G S 326 326 3.99E-4 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1276245309 17q12 17 35844552A> C null Y S 327 327 missense 0.647 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs765850053 17q12 17 35844560G> A null D N 330 330 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs753239090 17q12 17 35844563A> G null R G 331 331 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs868791776 17q12 17 35844880C> T null T I 332 332 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs868791776 17q12 17 35844880C> A null T N 332 332 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1472249189 17q12 17 35844883G> A null G E 333 333 missense 0.24 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs775800221 17q12 17 35844882G> C null G R 333 333 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs775800221 17q12 17 35844882G> A null G R 333 333 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs775800221 17q12 17 35844882G> T null G W 333 333 missense 0.717 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1034564011 17q12 17 35844886G> C null G A 334 334 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1034564011 17q12 17 35844886G> A null G E 334 334 missense 0.248 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1034564011 17q12 17 35844886G> T null G V 334 334 missense 0.24 benign 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1458425946 17q12 17 35844888G> T null A S 335 335 missense 0.0 unknown 0.05 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1162897520 17q12 17 35844889C> T null A V 335 335 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs750426077 17q12 17 35844891A> G null M V 336 336 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs755983345 17q12 17 35844894G> A null E K 337 337 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1379424252 17q12 17 35844904T> A null V E 340 340 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,TOPMed,gnomAD rs532683371 17q12 17 35844903G> A null V M 340 340 2.0E-4 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N Ensembl rs865950140 17q12 17 35844907T> C null V A 341 341 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs753292569 17q12 17 35844906G> A null V M 341 341 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs774332624 17q12 17 35844910T> A null V E 342 342 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs374159744 17q12 17 35844909G> A null V M 342 342 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1244793355 17q12 17 35844912G> A null A T 343 343 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs778487363 17q12 17 35844913C> T null A V 343 343 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs747791734 17q12 17 35844915G> C null V L 344 344 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs747791734 17q12 17 35844915G> A null V M 344 344 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,TOPMed,gnomAD rs200182535 17q12 17 35844922C> T null T M 346 346 2.0E-4 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs747321705 17q12 17 35844924G> T null V L 347 347 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs373334865 17q12 17 35844933G> A null E K 350 350 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs376749338 17q12 17 35844936G> C null V L 351 351 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1431905192 17q12 17 35844941G> T null E D 352 352 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,TOPMed rs181636519 17q12 17 35844940A> G null E G 352 352 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,TOPMed,gnomAD rs202014042 17q12 17 35844945A> C null M L 354 354 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1435810749 17q12 17 35844946T> C null M T 354 354 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,TOPMed,gnomAD rs202014042 17q12 17 35844945A> G null M V 354 354 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1381753101 17q12 17 35844955C> A null T K 357 357 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs866067297 17q12 17 35844958G> A null G E 358 358 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1412953370 17q12 17 35844961T> C null V A 359 359 missense 0.0 unknown 0.47 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs772041521 17q12 17 35844960G> A null V M 359 359 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed rs773164507 17q12 17 35844964T> C null V A 360 360 missense 0.0 unknown 0.24 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed rs773164507 17q12 17 35844964T> A null V E 360 360 missense 0.0 unknown 0.59 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed rs773164507 17q12 17 35844964T> G null V G 360 360 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed rs145849645 17q12 17 35844967C> G null A G 361 361 3.99E-4 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed rs145849645 17q12 17 35844967C> T null A V 361 361 3.99E-4 missense 0.0 unknown 0.47 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1403622336 17q12 17 35844970C> T null A V 362 362 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed rs369555903 17q12 17 35844973T> C null M T 363 363 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1194886015 17q12 17 35844972A> G null M V 363 363 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs764692726 17q12 17 35844979A> G null E G 365 365 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138688016 17q12 17 35844985A> C null E A 367 367 0.001398 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,NCI-TCGA,TOPMed,gnomAD rs752394270 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844984G> A null E K 367 367 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138688016 17q12 17 35844985A> T null E V 367 367 0.001398 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1376620285 17q12 17 35844988T> C null V A 368 368 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1376620285 17q12 17 35844988T> G null V G 368 368 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,TOPMed rs200820525 17q12 17 35844991G> C null G A 369 369 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,TOPMed rs200820525 17q12 17 35844991G> A null G E 369 369 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed rs777362123 17q12 17 35844990G> C null G R 369 369 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N Ensembl rs1183298377 17q12 17 35844993G> A null A T 370 370 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199597033 17q12 17 35844997C> T null T M 371 371 5.99E-4 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,NCI-TCGA,TOPMed,gnomAD rs781611311 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35845008G> A null E K 375 375 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,gnomAD rs201536163 17q12 17 35845011G> T null V L 376 376 2.0E-4 missense 0.0 unknown 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs746383433 17q12 17 35845017A> G null M V 378 378 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1199777076 17q12 17 35845021A> G null E G 379 379 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1451355081 17q12 17 35845035G> A null E K 384 384 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1189468986 17q12 17 35845038G> A null E K 385 385 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N Ensembl rs978647003 17q12 17 35846909C> T null T M 386 386 missense 0.0 unknown 0.19 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1294871586 17q12 17 35846911A> G null T A 387 387 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,gnomAD rs183908007 17q12 17 35846915C> T null T I 388 388 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1194845891 17q12 17 35846922G> A null M I 390 390 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs915922895 17q12 17 35846924T> C null I T 391 391 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,NCI-TCGA,TOPMed,gnomAD rs776503828 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35846929G> A null A T 393 393 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1331208760 17q12 17 35846932A> G null T A 394 394 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,NCI-TCGA,gnomAD rs769724066 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35846935G> A null D N 395 395 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1280876662 17q12 17 35846944G> C null D H 398 398 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs775351203 17q12 17 35846948A> C null D A 399 399 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1224071959 17q12 17 35846947G> C null D H 399 399 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1197788203 17q12 17 35846954T> G null F C 401 401 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1197788203 17q12 17 35846954T> A null F Y 401 401 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1045792457 17q12 17 35846962T> C null S P 404 404 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76785014 17q12 17 35846968G> T null V F 406 406 0.001797 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1292920386 17q12 17 35846977A> G null M V 409 409 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs761504647 17q12 17 35846980A> T null I F 410 410 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1166479350 17q12 17 35846984A> G null H R 411 411 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1350177185 17q12 17 35846986A> G null S G 412 412 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs750831941 17q12 17 35846987G> A null S N 412 412 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs563918737 17q12 17 35846998A> G null R G 416 416 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1298439112 17q12 17 35847004T> A null L M 418 418 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs767049320 17q12 17 35847005T> G null L W 418 418 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1410387697 17q12 17 35847008C> T null P L 419 419 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1410387697 17q12 17 35847008C> G null P R 419 419 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs755148981 17q12 17 35847022G> A null V M 424 424 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs779025521 17q12 17 35847025G> C null A P 425 425 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed rs758676060 17q12 17 35847047T> G null L * 432 432 stop gained 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs777787732 17q12 17 35847050G> A null S N 433 433 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1277253876 17q12 17 35847051T> A null S R 433 433 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1483559515 17q12 17 35847053A> C null D A 434 434 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1182105885 17q12 17 35847055A> T null I F 435 435 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1182105885 17q12 17 35847055A> G null I V 435 435 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1231600476 17q12 17 35847061A> T null I F 437 437 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1275052563 17q12 17 35847067A> T null I F 439 439 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1474056872 17q12 17 35847071G> A null W * 440 440 stop gained 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1196098755 17q12 17 35847074T> G null V G 441 441 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1183154802 17q12 17 35847073G> A null V M 441 441 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1046919666 17q12 17 35847077G> A null G E 442 442 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs745692469 17q12 17 35847086G> C null G A 445 445 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs745692469 17q12 17 35847086G> T null G V 445 445 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1372199096 17q12 17 35847088C> T null Q * 446 446 stop gained 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1006487812 17q12 17 35847098T> C null F S 449 449 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7D9 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs769566845 17q12 17 35847100T> C null * Q 450 450 stop lost 0 A0A075B7E0 IGHD3OR15-3B Protein IGHD3OR15-3A (Fragment) TOPMed rs1346171949 15q11.1 15 20005935C> T null V I 1 1 missense 0.0 unknown 0 A0A075B7E0 IGHD3OR15-3B Protein IGHD3OR15-3A (Fragment) TOPMed rs1202350822 15q11.1 15 20005932A> C null L V 2 2 missense 0.0 unknown 0 A0A075B7E0 IGHD3OR15-3B Protein IGHD3OR15-3A (Fragment) TOPMed rs1206002955 15q11.1 15 20005924A> T null F L 4 4 missense 0.0 unknown 0 A0A075B7E0 IGHD3OR15-3B Protein IGHD3OR15-3A (Fragment) TOPMed rs1050258485 15q11.1 15 20005926A> G null F L 4 4 missense 0.0 unknown 0 A0A075B7E0 IGHD3OR15-3B Protein IGHD3OR15-3A (Fragment) TOPMed rs933049591 15q11.1 15 20005921C> A null L F 5 5 missense 0.0 unknown 0 A0A075B7E0 IGHD3OR15-3B Protein IGHD3OR15-3A (Fragment) TOPMed rs923054231 15q11.1 15 20005920C> T null D N 6 6 missense 0.0 unknown 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782651514 17q12 17 35760948A> T null K * 3 3 stop gained 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782250176 17q12 17 35760950G> T null K N 3 3 missense 0.814 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782367634 17q12 17 35760951C> T null H Y 4 4 missense 0.011 benign 0.06 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602060 17q12 17 35764007G> T null G V 5 5 missense 0.846 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602062 17q12 17 35764009G> A null V M 6 6 missense 0.735 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602064 17q12 17 35764016C> A null T N 8 8 missense 0.698 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602066 17q12 17 35764018C> T null P S 9 9 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200805689 17q12 17 35764021T> A null L M 10 10 7.99E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1331423762 17q12 17 35764024T> C null W R 11 11 missense 0.699 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782565726 17q12 17 35764031A> G null K R 13 13 missense 0.982 probably damaging 0.06 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1388093926 17q12 17 35764034A> C null E A 14 14 missense 0.52 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1164833170 17q12 17 35764035A> T null E D 14 14 missense 0.015 benign 0.08 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1458183735 17q12 17 35764039G> A null E K 16 16 missense 0.344 benign 0.02 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602073 17q12 17 35764049G> A null R Q 19 19 missense 0.005 benign 0.42 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1379619211 17q12 17 35764048C> T null R W 19 19 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602077 17q12 17 35764051G> A null A T 20 20 missense 0.007 benign 0.06 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602083 17q12 17 35764054G> T null E * 21 21 missense 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4795087 17q12 17 35764059C> A null D E 22 22 0.3365 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4795087 17q12 17 35764059C> G null D E 22 22 0.3365 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1179299013 17q12 17 35764057G> A null D N 22 22 missense 0.013 benign 0.17 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602088 17q12 17 35764061C> A null A E 23 23 missense 0.015 benign 0.39 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1357421602 17q12 17 35764067A> T null Q L 25 25 missense 0.001 benign 0.21 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs950878139 17q12 17 35764069G> A null E K 26 26 missense 0.011 benign 0.16 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602102 17q12 17 35764076G> C null G A 28 28 missense 0.0 benign 0.64 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602102 17q12 17 35764076G> T null G V 28 28 missense 0.025 benign 0.23 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602103 17q12 17 35764078A> G null K E 29 29 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1238687534 17q12 17 35764085G> T null G V 31 31 missense 0.332 benign 0.24 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782341898 17q12 17 35764087T> G null S A 32 32 missense 0.028 benign 0.17 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781934247 17q12 17 35764088C> T null S L 32 32 missense 0.029 benign 0.04 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782341898 17q12 17 35764087T> C null S P 32 32 missense 0.839 possibly damaging 0.08 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ESP,ExAC,TOPMed,gnomAD rs199800640 17q12 17 35764093G> A null D N 34 34 missense 0.153 benign 0.19 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1359726690 17q12 17 35764098G> C null E D 35 35 missense 0.009 benign 0.27 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ExAC,gnomAD rs587685999 17q12 17 35764096G> A null E K 35 35 2.0E-4 missense 0.048 benign 0.04 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602120 17q12 17 35764101C> A null D E 36 36 missense 0.051 benign 0.74 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782133386 17q12 17 35764103A> G null E G 37 37 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781887858 17q12 17 35764102G> A null E K 37 37 missense 0.005 benign 0.08 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781887858 17q12 17 35764102G> C null E Q 37 37 missense 0.034 benign 0.06 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602123 17q12 17 35764105G> A null D N 38 38 missense 0.932 probably damaging 0.04 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140052043 17q12 17 35764111C> A null Q K 40 40 0.008586 missense 0.34 benign 0.5 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782094631 17q12 17 35764112A> T null Q L 40 40 missense 0.465 possibly damaging 0.15 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1477718502 17q12 17 35764115G> A null R K 41 41 missense 0.048 benign 0.14 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602128 17q12 17 35764118C> T null P L 42 42 missense 0.003 benign 0.47 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1245210864 17q12 17 35764117C> T null P S 42 42 missense 0.013 benign 0.74 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782559389 17q12 17 35764125G> T null E D 44 44 missense 0.007 benign 0.31 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs1051456932 17q12 17 35764123G> A null E K 44 44 missense 0.022 benign 0.43 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602135 17q12 17 35764127A> G null D G 45 45 missense 0.013 benign 0.01 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1214867492 17q12 17 35764131C> G null S R 46 46 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602142 17q12 17 35764140G> T null E D 49 49 missense 0.033 benign 0.3 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,gnomAD rs587715530 17q12 17 35764141G> A null G S 50 50 2.0E-4 missense 0.011 benign 0.09 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602143 17q12 17 35764142G> T null G V 50 50 missense 0.332 benign 0.1 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,TOPMed,gnomAD rs587770923 17q12 17 35764145A> C null E A 51 51 2.0E-4 missense 0.005 benign 0.08 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs760773678 17q12 17 35764144G> A null E K 51 51 missense 0.003 benign 0.11 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1276091316 17q12 17 35764147G> A null E K 52 52 missense 0.012 benign 0.12 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1339406708 17q12 17 35764151C> T null P L 53 53 missense 0.039 benign 0.22 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1339406708 17q12 17 35764151C> A null P Q 53 53 missense 0.001 benign 0.52 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1436836249 17q12 17 35764150C> T null P S 53 53 missense 0.005 benign 0.51 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1401559901 17q12 17 35764154C> G null P R 54 54 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602148 17q12 17 35764157G> A null R Q 55 55 missense 0.007 benign 0.16 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602151 17q12 17 35764159G> A null V I 56 56 missense 0.018 benign 0.05 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs374889229 17q12 17 35764163C> T null A V 57 57 missense 0.039 benign 0.15 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs892924759 17q12 17 35764165G> A null E K 58 58 missense 0.085 benign 0.19 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782653090 17q12 17 35764170G> C null E D 59 59 missense 0.005 benign 0.24 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ExAC,TOPMed,gnomAD rs587668940 17q12 17 35764178G> A null G D 62 62 2.0E-4 missense 0.015 benign 0.1 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116067464 17q12 17 35764181G> A null R H 63 63 0.00639 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs970129645 17q12 17 35764183G> A null E K 64 64 missense 0.541 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602166 17q12 17 35764189C> T null R C 66 66 missense 0.648 possibly damaging 0.07 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602170 17q12 17 35764190G> T null R L 66 66 missense 0.251 benign 0.23 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367574463 17q12 17 35764196T> C null V A 68 68 7.99E-4 missense 0.04 benign 0.01 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367574463 17q12 17 35764196T> G null V G 68 68 7.99E-4 missense 0.563 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs868938042 17q12 17 35764195G> C null V L 68 68 missense 0.269 benign 0.05 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs782108790 17q12 17 35764201T> A null Y N 70 70 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602178 17q12 17 35764208C> A null P Q 72 72 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602181 17q12 17 35764213C> A null R S 74 74 missense 0.302 benign 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1489436865 17q12 17 35764218G> C null Q H 75 75 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1191980684 17q12 17 35764217A> G null Q R 75 75 missense 0.976 probably damaging 0.03 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1243213308 17q12 17 35764219G> T null E * 76 76 missense 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1210100745 17q12 17 35764222T> G null S A 77 77 missense 0.372 benign 0.11 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1441186818 17q12 17 35764223C> T null S F 77 77 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1280173310 17q12 17 35764225A> G null S G 78 78 missense 0.411 benign 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1223563632 17q12 17 35764226G> C null S T 78 78 missense 0.638 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs782800897 17q12 17 35764229C> T null T I 79 79 missense 0.018 benign 0.02 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602190 17q12 17 35764231C> T null Q * 80 80 missense 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602191 17q12 17 35764232A> G null Q R 80 80 missense 0.857 possibly damaging 0.22 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602192 17q12 17 35764236G> C null Q H 81 81 missense 0.653 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1419111218 17q12 17 35764436C> T null P L 85 85 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ExAC,TOPMed,gnomAD rs587726013 17q12 17 35764438C> G null P A 86 86 7.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602323 17q12 17 35764439C> G null P R 86 86 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ExAC,TOPMed,gnomAD rs587726013 17q12 17 35764438C> T null P S 86 86 7.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC rs782362486 17q12 17 35764441G> A null G R 87 87 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs923933764 17q12 17 35764445G> A null G E 88 88 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602334 17q12 17 35764453C> T null R C 91 91 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782310517 17q12 17 35764454G> A null R H 91 91 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782310517 17q12 17 35764454G> C null R P 91 91 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ESP,TOPMed,gnomAD rs373896097 17q12 17 35764456G> C null A P 92 92 missense 0.0 unknown 0.18 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ESP,TOPMed,gnomAD rs373896097 17q12 17 35764456G> A null A T 92 92 missense 0.0 unknown 0.16 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602343 17q12 17 35764462G> A null D N 94 94 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,ExAC,gnomAD rs587628047 17q12 17 35764463A> T null D V 94 94 3.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602350 17q12 17 35764466C> G null P R 95 95 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602348 17q12 17 35764465C> T null P S 95 95 missense 0.0 unknown 0.16 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602353 17q12 17 35764469C> T null A V 96 96 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602356 17q12 17 35764472C> T null T M 97 97 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,TOPMed,gnomAD rs587655331 17q12 17 35764475C> T null T I 98 98 2.0E-4 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 1000Genomes,TOPMed,gnomAD rs587655331 17q12 17 35764475C> G null T S 98 98 2.0E-4 missense 0.0 unknown 0.7 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs781965737 17q12 17 35764481C> T null A V 100 100 missense 0.0 unknown 0.22 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782075768 17q12 17 35764484C> T null P L 101 101 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782075768 17q12 17 35764484C> G null P R 101 101 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1217759930 17q12 17 35764483C> T null P S 101 101 missense 0.0 unknown 0.05 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1359220888 17q12 17 35764487G> A null R Q 102 102 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs781787644 17q12 17 35764493T> A null L Q 104 104 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1300517952 17q12 17 35764495T> C null C R 105 105 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs1568123451 17q12 17 35764504C> T null R * 108 108 stop gained 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602382 17q12 17 35764505G> A null R Q 108 108 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 Ensembl rs1555602387 17q12 17 35764505_35764506delinsA G null R Q 108 108 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781874321 17q12 17 35764511C> A null P H 110 110 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782699645 17q12 17 35764510C> T null P S 110 110 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1434594604 17q12 17 35764516C> A null L M 112 112 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782505958 17q12 17 35764517T> C null L P 112 112 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed rs1429493643 17q12 17 35764526T> G null M R 115 115 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782620462 17q12 17 35764528C> T null Q * 116 116 stop gained 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782620462 17q12 17 35764528C> A null Q K 116 116 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1192703901 17q12 17 35764529A> T null Q L 116 116 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1192703901 17q12 17 35764529A> C null Q P 116 116 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781829396 17q12 17 35764531G> A null E K 117 117 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs781829396 17q12 17 35764531G> C null E Q 117 117 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782583639 17q12 17 35764544C> G null P R 121 121 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782298592 17q12 17 35764546C> T null P S 122 122 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602406 17q12 17 35764552C> G null L V 124 124 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602410 17q12 17 35764556G> T null C F 125 125 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 gnomAD rs1555602414 17q12 17 35764567C> T null R C 129 129 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ESP,ExAC,TOPMed,gnomAD rs371809143 17q12 17 35764574G> C null G A 131 131 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782225352 17q12 17 35764577C> T null S L 132 132 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782341306 17q12 17 35764579C> G null P A 133 133 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1208089126 17q12 17 35764580C> A null P H 133 133 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1208089126 17q12 17 35764580C> T null P L 133 133 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs782341306 17q12 17 35764579C> T null P S 133 133 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 TOPMed,gnomAD rs1325959127 17q12 17 35764583G> A null G E 134 134 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,gnomAD rs372143156 17q12 17 35764582G> A null G R 134 134 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782412502 17q12 17 35764589G> A null G E 136 136 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E2 C17orf50 Uncharacterized protein C17orf50 ExAC,TOPMed,gnomAD rs782412502 17q12 17 35764589G> T null G V 136 136 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1339842171 17q12 17 35820427T> C null S P 3 3 missense 0.006 benign 0.05 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147936141 17q12 17 35820431C> T null S L 4 4 2.0E-4 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1044218864 17q12 17 35822656C> T null P S 12 12 missense 0.013 benign 0.23 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368588705 17q12 17 35822659T> G null S A 13 13 2.0E-4 missense 0.554 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs766945476 17q12 17 35822663A> G null Y C 14 14 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs781461546 17q12 17 35822670G> T null Q H 16 16 missense 0.693 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs754279768 17q12 17 35822671C> G null P A 17 17 missense 0.001 benign 0.31 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs755066520 17q12 17 35822675A> G null D G 18 18 missense 0.059 benign 0.18 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs200841311 17q12 17 35822678A> G null Y C 19 19 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs765284784 17q12 17 35822677T> C null Y H 19 19 missense 0.838 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1212862475 17q12 17 35822680G> C null G R 20 20 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs758610893 17q12 17 35822686C> T null Q * 22 22 stop gained 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1283356639 17q12 17 35822695T> G null Y D 25 25 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,NCI-TCGA,gnomAD rs755825241 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35822699A> G null D G 26 26 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1351821253 17q12 17 35822701C> G null Q E 27 27 missense 0.047 benign 0.15 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N Ensembl rs750484421 17q12 17 35822704C> G null Q E 28 28 missense 0.088 benign 0.01 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N Ensembl rs756643512 17q12 17 35822705A> G null Q R 28 28 missense 0.127 benign 0.01 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs749226539 17q12 17 35822711G> A null G D 30 30 missense 0.999 probably damaging 0.05 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs780144032 17q12 17 35822710G> A null G S 30 30 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140601071 17q12 17 35822714A> G null Y C 31 31 0.001597 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs962733364 17q12 17 35822717A> G null D G 32 32 missense 0.993 probably damaging 0.38 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs747804787 17q12 17 35822719C> G null Q E 33 33 missense 0.088 benign 0.19 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs747804787 17q12 17 35822719C> A null Q K 33 33 missense 0.088 benign 0.01 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1472037899 17q12 17 35822726A> G null Q R 35 35 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs772703762 17q12 17 35822729G> A null G D 36 36 missense 0.996 probably damaging 0.15 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs771783055 17q12 17 35822728G> A null G S 36 36 missense 0.994 probably damaging 0.21 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,gnomAD rs182638009 17q12 17 35822732C> T null S L 37 37 3.99E-4 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs777176556 17q12 17 35822738A> C null D A 39 39 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs777176556 17q12 17 35822738A> G null D G 39 39 missense 0.081 benign 0.07 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1221391352 17q12 17 35822740G> C null E Q 40 40 missense 0.001 benign 0.48 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1417413418 17q12 17 35822743C> G null Q E 41 41 missense 0.006 benign 0.08 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs954155077 17q12 17 35822749A> G null N D 43 43 missense 0.059 benign 0.08 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs954155077 17q12 17 35822749A> T null N Y 43 43 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1157014378 17q12 17 35822753A> G null Y C 44 44 missense 0.823 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1421107593 17q12 17 35822752T> G null Y D 44 44 missense 0.776 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1302628988 17q12 17 35822756A> G null D G 45 45 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ESP,TOPMed,gnomAD rs369432616 17q12 17 35822759A> T null Q L 46 46 missense 0.047 benign 0.01 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ESP,TOPMed,gnomAD rs369432616 17q12 17 35822759A> G null Q R 46 46 missense 0.086 benign 0.1 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs765336144 17q12 17 35822765A> T null H L 48 48 missense 0.117 benign 0.02 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1192825486 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35822768A> G null D G 49 49 missense 0.981 probably damaging 0.11 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs752796451 17q12 17 35822774A> G null Y C 51 51 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1241264482 17q12 17 35822777G> A null S N 52 52 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1214182865 17q12 17 35822783A> C null N T 54 54 missense 0.987 probably damaging 0.02 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs762891086 17q12 17 35822785C> A null Q K 55 55 missense 0.954 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1359998232 17q12 17 35822788C> G null Q E 56 56 missense 0.954 probably damaging 0.04 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs764407967 17q12 17 35822791T> A null S T 57 57 missense 0.325 benign 0.02 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs755949830 17q12 17 35822795A> G null Y C 58 58 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N Ensembl rs78280513 17q12 17 35822803C> A null Q K 61 61 missense 0.954 probably damaging 0.02 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs779992517 17q12 17 35822804A> T null Q L 61 61 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs777740721 17q12 17 35822807G> A null R K 62 62 missense 0.969 probably damaging 0.53 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs754944712 17q12 17 35822813A> C null N T 64 64 missense 0.059 benign 0.02 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed,gnomAD rs140961224 17q12 17 35822816A> G null Y C 65 65 missense 0.875 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1317931466 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35822824C> T null H Y 68 68 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1278572423 17q12 17 35824082C> A null D E 72 72 missense 0.986 probably damaging 0.03 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,TOPMed,gnomAD rs550494407 17q12 17 35824084G> A null R H 73 73 2.0E-4 missense 0.003 benign 0.1 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ESP rs376365511 17q12 17 35824086C> T null R C 74 74 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs1273517576 17q12 17 35824087G> A null R H 74 74 missense 0.005 benign 0.12 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed rs1263461100 17q12 17 35824093T> A null V E 76 76 missense 0.062 benign 0.35 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1211697448 17q12 17 35824092G> A null V M 76 76 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC rs752427176 17q12 17 35824102du p null Y * 79 79 stop gained 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs200557877 17q12 17 35824123A> G null Y C 86 86 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1231393292 17q12 17 35824125G> A null G S 87 87 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs746261562 17q12 17 35824129G> A null G E 88 88 missense 0.999 probably damaging 0.07 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,NCI-TCGA,TOPMed rs780771102 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35824128G> A null G R 88 88 missense 1.0 probably damaging 0.21 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs746261562 17q12 17 35824129G> T null G V 88 88 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1417534294 17q12 17 35824132C> G null S * 89 89 stop gained 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs200567401 17q12 17 35824131T> G null S A 89 89 missense 0.039 benign 0.07 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1460242058 17q12 17 35824135A> G null Q R 90 90 missense 0.969 probably damaging 0.44 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ExAC,gnomAD rs529493663 17q12 17 35824146A> G null R G 94 94 2.0E-4 missense 0.985 probably damaging 0.2 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ESP,TOPMed rs372463855 17q12 17 35824149G> A null G R 95 95 missense 0.04 benign 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1379881863 17q12 17 35824150G> T null G V 95 95 missense 0.79 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs761936944 17q12 17 35824152C> G null R G 96 96 missense 0.057 benign 0.03 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N TOPMed,gnomAD rs892678406 17q12 17 35824153G> A null R H 96 96 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1416189464 17q12 17 35824170G> A null D N 102 102 missense 0.831 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,gnomAD rs764931450 17q12 17 35824185A> G null M V 107 107 missense 0.006 benign 0.02 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC,TOPMed rs376331245 17q12 17 35824198G> A null R K 111 111 missense 0.0 unknown 0.42 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs201942273 17q12 17 35834570C> G null Q E 113 113 missense 0.0 unknown 0.45 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ESP,ExAC rs144989857 17q12 17 35834571A> G null Q R 113 113 missense 0.0 unknown 0.32 tolerated - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1183500233 17q12 17 35834578A> C null L F 115 115 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138790468 17q12 17 35834585C> T null Q * 118 118 7.99E-4 stop gained 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1452778860 17q12 17 35834589A> G null N S 119 119 missense 0.0 unknown 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N ExAC,TOPMed,gnomAD rs768438384 17q12 17 35834595G> T null C F 121 121 missense 0.0 unknown 0 A0A075B7E4 TAF15 TATA-binding protein-associated factor 2N gnomAD rs1233113159 17q12 17 35836132A> T null * C 122 122 missense 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782345698 1q32.1 1 206440067T> A null F L 3 3 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782267023 1q32.1 1 206440065T> C null F L 3 3 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC rs781981581 1q32.1 1 206440069C> A null A D 4 4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553371464 1q32.1 1 206440078A> G null N S 7 7 missense 0.003 benign 0.09 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553373617 1q32.1 1 206446086T> C null F S 12 12 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs1558441803 1q32.1 1 206446088A> G null S G 13 13 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553373621 1q32.1 1 206446100A> T null M L 17 17 missense 0.841 possibly damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553373623 1q32.1 1 206446109C> T null P S 20 20 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782600837 1q32.1 1 206446118C> G null L V 23 23 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553373639 1q32.1 1 206446121G> A null A T 24 24 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1173255909 1q32.1 1 206446124A> G null I V 25 25 missense 0.924 probably damaging 1.0 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781939266 1q32.1 1 206446145A> T null M L 32 32 missense 0.841 possibly damaging 1.0 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs868989180 1q32.1 1 206446161G> A null G D 37 37 missense 0.019 benign 0.15 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1252285246 1q32.1 1 206446163C> T null H Y 38 38 missense 0.98 probably damaging 0.1 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781997381 1q32.1 1 206446166G> A null D N 39 39 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553373685 1q32.1 1 206446184G> C null A P 45 45 missense 0.632 possibly damaging 0.2 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375969327 1q32.1 1 206446190G> A null V M 47 47 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1272778013 1q32.1 1 206446204C> G null I M 51 51 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1222539735 1q32.1 1 206446208A> G null T A 53 53 missense 0.015 benign 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1350654679 1q32.1 1 206446209C> T null T I 53 53 missense 0.506 possibly damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781898242 1q32.1 1 206446216C> G null I M 55 55 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782774224 1q32.1 1 206446225T> G null H Q 58 58 missense 0.991 probably damaging 0.18 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782515280 1q32.1 1 206446224A> G null H R 58 58 missense 0.987 probably damaging 0.11 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377743666 1q32.1 1 206446226G> C null E Q 59 59 2.0E-4 missense 0.622 possibly damaging 0.01 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782541490 1q32.1 1 206446258G> C null E D 69 69 missense 0.015 benign 0.57 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781816531 1q32.1 1 206446256G> A null E K 69 69 missense 0.253 benign 0.04 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs370656752 1q32.1 1 206446275G> A null R K 75 75 missense 0.237 benign 1.0 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs370656752 1q32.1 1 206446275G> C null R T 75 75 missense 0.322 benign 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs1033712136 1q32.1 1 206446277G> A null G R 76 76 missense 0.761 possibly damaging 0.06 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1416306471 1q32.1 1 206446280G> A null G R 77 77 missense 0.159 benign 0.07 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553373766 1q32.1 1 206446283A> C null S R 78 78 missense 0.169 benign 0.04 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC rs782337002 1q32.1 1 206446286A> T null M L 79 79 missense 0.0 benign 0.54 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553373782 1q32.1 1 206446290A> G null E G 80 80 missense 0.197 benign 0.21 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553373775 1q32.1 1 206446289G> A null E K 80 80 missense 0.197 benign 0.04 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782604038 1q32.1 1 206446292G> T null D Y 81 81 missense 0.956 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782181909 1q32.1 1 206446296A> G null Y C 82 82 missense 0.026 benign 0.03 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553375396 1q32.1 1 206450388A> G null D G 84 84 missense 0.172 benign 0.13 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782344684 1q32.1 1 206450393C> G null P A 86 86 missense 0.298 benign 0.03 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1433275965 1q32.1 1 206450396C> T null H Y 87 87 missense 0.98 probably damaging 1.0 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1189126103 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206450412C> T null S L 92 92 missense 0.012 benign 0.61 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1259163617 1q32.1 1 206450414G> A null V I 93 93 missense 0.06 benign 0.47 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782328281 1q32.1 1 206450417G> A null E K 94 94 missense 0.253 benign 0.04 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,gnomAD rs530268226 1q32.1 1 206450421A> G null D G 95 95 2.0E-4 missense 0.997 probably damaging 0.14 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553375445 1q32.1 1 206450427C> T null T I 97 97 missense 0.012 benign 0.17 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782172330 1q32.1 1 206450430A> C null Q P 98 98 missense 0.0 benign 0.56 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553375453 1q32.1 1 206450435G> A null V M 100 100 missense 0.015 benign 0.11 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374071443 1q32.1 1 206450439C> T null T I 101 101 missense 0.125 benign 0.16 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs374071443 1q32.1 1 206450439C> A null T N 101 101 missense 0.625 possibly damaging 0.32 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553375465 1q32.1 1 206450442C> G null A G 102 102 missense 0.087 benign 0.37 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201846020 1q32.1 1 206450441G> A null A T 102 102 0.001198 missense 0.001 benign 1.0 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1251232149 1q32.1 1 206450451A> G null H R 105 105 missense 0.987 probably damaging 0.42 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,gnomAD rs117722554 1q32.1 1 206450454C> T null T M 106 106 2.0E-4 missense 0.873 possibly damaging 0.02 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553375485 1q32.1 1 206450457G> A null S N 107 107 missense 0.986 probably damaging 0.04 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1553375494 1q32.1 1 206450461T> A null D E 108 108 missense 0.045 benign 1.0 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs754921011 1q32.1 1 206450459G> A null D N 108 108 missense 0.706 possibly damaging 0.02 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376715 1q32.1 1 206453214G> A null E K 115 115 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376721 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206453217G> A null A T 116 116 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782553255 1q32.1 1 206453227A> T null K M 119 119 missense 0.851 possibly damaging 0.06 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376727 1q32.1 1 206453229T> C null F L 120 120 missense 0.986 probably damaging 0.02 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376734 1q32.1 1 206453236A> G null Y C 122 122 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,TOPMed,gnomAD rs368723990 1q32.1 1 206453238G> A null V M 123 123 missense 0.192 benign 0.06 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1166290927 1q32.1 1 206453241G> A null G S 124 124 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373240789 1q32.1 1 206453245G> A null R Q 125 125 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC rs782518032 1q32.1 1 206453251C> T null A V 127 127 missense 0.556 possibly damaging 0.03 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376777 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q32.1 1 206453253C> T null R * 128 128 stop gained 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782611082 1q32.1 1 206453254G> T null R L 128 128 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782611082 1q32.1 1 206453254G> A null R Q 128 128 missense 0.991 probably damaging 0.68 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1466545625 1q32.1 1 206453269A> G null K R 133 133 missense 0.003 benign 0.14 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376804 1q32.1 1 206453274G> T null G * 135 135 stop gained 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782015320 1q32.1 1 206453283C> G null L V 138 138 missense 0.992 probably damaging 0.08 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs534391977 1q32.1 1 206453287T> A null L Q 139 139 missense 0.867 possibly damaging 0.16 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782290329 1q32.1 1 206453299G> A null R Q 143 143 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782374407 1q32.1 1 206453302C> T null A V 144 144 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781996641 1q32.1 1 206453307G> A null D N 146 146 missense 0.594 possibly damaging 0.13 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376838 1q32.1 1 206453310G> A null D N 147 147 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782363098 1q32.1 1 206453326G> A null R Q 152 152 missense 0.991 probably damaging 0.07 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs781922187 1q32.1 1 206453331A> G null N D 154 154 missense 0.992 probably damaging 0.15 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782068780 1q32.1 1 206453332A> G null N S 154 154 missense 0.992 probably damaging 0.15 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376861 1q32.1 1 206453335G> A null G D 155 155 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1553376865 1q32.1 1 206453337A> G null I V 156 156 missense 0.005 benign 1.0 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs781908994 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206453340G> A null D N 157 157 missense 0.997 probably damaging 0.08 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782799900 1q32.1 1 206453349A> G null I V 160 160 missense 0.007 benign 0.5 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs900718580 1q32.1 1 206453353C> T null P L 161 161 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs769054196 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206453367G> A null V M 166 166 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377297991 1q32.1 1 206453373C> G null Q E 168 168 missense 0.953 probably damaging 0.17 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1348741525 1q32.1 1 206453376G> A null D N 169 169 missense 0.855 possibly damaging 0.06 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782551475 1q32.1 1 206453380C> T null T I 170 170 missense 0.892 possibly damaging 0.43 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782551475 1q32.1 1 206453380C> A null T N 170 170 missense 0.7 possibly damaging 0.42 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373706280 1q32.1 1 206454879G> A null E K 171 171 missense 0.22 benign 0.22 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782560820 1q32.1 1 206454884C> G null D E 172 172 missense 0.611 possibly damaging 0.59 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782351219 1q32.1 1 206454885G> T null G C 173 173 missense 0.992 probably damaging 0.04 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782351219 1q32.1 1 206454885G> A null G S 173 173 missense 0.851 possibly damaging 0.63 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1403354055 1q32.1 1 206454888G> A null V I 174 174 missense 0.001 benign 0.35 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs781912772 1q32.1 1 206454891G> A null V M 175 175 missense 0.127 benign 0.13 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377784 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206454894G> A null E K 176 176 missense 0.992 probably damaging 0.12 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1457259064 1q32.1 1 206454898G> A null R K 177 177 missense 0.253 benign 0.9 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377794 1q32.1 1 206454906C> T null P S 180 180 missense 0.824 possibly damaging 0.6 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782413632 1q32.1 1 206454936C> G null P A 190 190 missense 0.997 probably damaging 0.07 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377804 1q32.1 1 206454940C> T null P L 191 191 missense 0.393 benign 0.72 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782026187 1q32.1 1 206454942G> A null E K 192 192 missense 0.992 probably damaging 0.33 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs367891634 1q32.1 1 206454946A> G null E G 193 193 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,NCI-TCGA,gnomAD rs782774981 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206454957G> A null A T 197 197 missense 0.127 benign 0.3 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377821 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206454961G> T null R I 198 198 missense 0.996 probably damaging 0.04 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372717466 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206454964C> T null A V 199 199 missense 0.005 benign 0.25 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782691545 1q32.1 1 206454967G> C null G A 200 200 missense 0.377 benign 0.1 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377838 1q32.1 1 206454969G> A null A T 201 201 missense 0.253 benign 0.39 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377845 1q32.1 1 206454972A> C null S R 202 202 missense 0.255 benign 0.03 deleterious 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs932553630 1q32.1 1 206454976G> C null C S 203 203 missense 0.02 benign 1.0 tolerated 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782531606 1q32.1 1 206454988G> T null G V 207 207 missense 0.885 possibly damaging 0.26 tolerated - low confidence 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377858 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206454990C> T null H Y 208 208 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368222074 1q32.1 1 206454993G> A null V I 209 209 missense 0.981 probably damaging 1.0 tolerated - low confidence 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368222074 1q32.1 1 206454993G> T null V L 209 209 missense 0.981 probably damaging 0.24 tolerated - low confidence 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782524607 1q32.1 1 206454999G> A null D N 211 211 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782611608 1q32.1 1 206455003T> C null I T 212 212 missense 0.987 probably damaging 0.5 tolerated - low confidence 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377874 1q32.1 1 206455002A> G null I V 212 212 missense 0.924 probably damaging 0.83 tolerated - low confidence 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1282456900 1q32.1 1 206455012C> G null A G 215 215 missense 0.995 probably damaging 0.34 tolerated - low confidence 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377889 1q32.1 1 206455015A> G null N S 216 216 missense 0.992 probably damaging 0.36 tolerated - low confidence 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs1558455089 1q32.1 1 206455780T> C null C R 222 222 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B7E6 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes rs538728369 1q32.1 1 206455788T> G null C W 224 224 0.001997 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553287885 1q32.1 1 206097832C> G null L V 2 2 missense 0.902 possibly damaging 0.01 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782735944 1q32.1 1 206097836C> T null T I 3 3 missense 0.319 benign 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371411526 1q32.1 1 206098086T> C null M T 6 6 3.99E-4 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782293044 1q32.1 1 206098096G> A null W * 9 9 stop gained 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782015197 1q32.1 1 206098097C> T null H Y 10 10 missense 0.45 possibly damaging 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782181485 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:452 1q32.1 1 206098112G> A null A T 15 15 missense 0.996 probably damaging 0.0 deleterious 1 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein 1000Genomes,ExAC,gnomAD rs531574406 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary cosmic_study:331 1q32.1 1 206098113C> T null A V 15 15 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 1 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein Ensembl rs1558180356 1q32.1 1 206098116T> C null V A 16 16 missense 0.0 benign 0.94 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553287952 1q32.1 1 206098118G> C null V L 17 17 missense 0.979 probably damaging 0.09 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein Ensembl rs1028613164 1q32.1 1 206098127T> C null F L 20 20 missense 0.0 benign 0.58 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs781803585 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206098151G> A null A T 28 28 missense 0.009 benign 0.15 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ESP,ExAC,TOPMed,gnomAD rs145692559 1q32.1 1 206098152C> T null A V 28 28 missense 0.005 benign 0.82 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782476713 1q32.1 1 206098155T> A null I N 29 29 missense 0.4 benign 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ESP rs367880017 1q32.1 1 206098154A> G null I V 29 29 missense 0.057 benign 0.24 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs563427212 1q32.1 1 206098158A> G null N S 30 30 missense 0.01 benign 0.39 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs563427212 1q32.1 1 206098158A> C null N T 30 30 missense 0.171 benign 0.15 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs958522822 1q32.1 1 206098160T> C null Y H 31 31 missense 0.903 possibly damaging 0.03 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs781815646 1q32.1 1 206098163C> A null L M 32 32 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782746357 1q32.1 1 206098166C> G null L V 33 33 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed rs1243530849 1q32.1 1 206098169A> G null S G 34 34 missense 0.007 benign 0.09 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782035298 1q32.1 1 206098178A> T null M L 37 37 missense 0.0 benign 0.24 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ESP,ExAC,TOPMed,gnomAD rs140952719 1q32.1 1 206098179T> C null M T 37 37 missense 0.012 benign 0.07 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782035298 1q32.1 1 206098178A> G null M V 37 37 missense 0.001 benign 0.03 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs1203947450 1q32.1 1 206101138G> A null D N 39 39 missense 0.0 benign 0.64 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs1203947450 1q32.1 1 206101138G> T null D Y 39 39 missense 0.388 benign 0.02 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ESP,ExAC,gnomAD rs372778189 1q32.1 1 206101142G> T null S I 40 40 missense 0.241 benign 0.15 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782495496 1q32.1 1 206101145A> G null D G 41 41 missense 0.263 benign 0.39 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed rs1005279810 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23856246,cosmic_study:376,cosmic_study:504 1q32.1 1 206101144G> A null D N 41 41 missense 0.159 benign 0.86 tolerated 1 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782793786 1q32.1 1 206101151C> A null P H 43 43 missense 0.0 benign 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288325 1q32.1 1 206101150C> T null P S 43 43 missense 0.0 benign 0.26 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288325 1q32.1 1 206101150C> A null P T 43 43 missense 0.0 benign 0.01 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288330 1q32.1 1 206101156G> T null D Y 45 45 missense 0.255 benign 0.02 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288334 1q32.1 1 206101160G> T null S I 46 46 missense 0.225 benign 0.1 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288331 1q32.1 1 206101159A> C null S R 46 46 missense 0.354 benign 0.44 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141643308 1q32.1 1 206101162T> G null L V 47 47 5.99E-4 missense 0.0 benign 0.51 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782802471 1q32.1 1 206101166A> T null D V 48 48 missense 0.98 probably damaging 0.25 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782360608 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206101171T> C null S P 50 50 missense 0.354 benign 0.46 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein 1000Genomes,ExAC,TOPMed,gnomAD rs537162083 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206101181C> T null S L 53 53 2.0E-4 missense 0.0 benign 0.28 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288339 1q32.1 1 206101186C> T null P S 55 55 missense 0.019 benign 0.27 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288440 1q32.1 1 206101752G> A null A T 59 59 missense 0.315 benign 0.06 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288443 1q32.1 1 206101761G> A null D N 62 62 missense 0.047 benign 0.4 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288445 1q32.1 1 206101762A> T null D V 62 62 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367756335 1q32.1 1 206101764G> T null V L 63 63 2.0E-4 missense 0.288 benign 0.22 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367756335 1q32.1 1 206101764G> A null V M 63 63 2.0E-4 missense 0.632 possibly damaging 0.11 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed rs1258404889 1q32.1 1 206101770T> G null Y D 65 65 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs1190319974 1q32.1 1 206101776C> T null Q * 67 67 stop gained 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs1190319974 1q32.1 1 206101776C> A null Q K 67 67 missense 0.055 benign 0.1 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed rs1319202597 1q32.1 1 206101783T> C null V A 69 69 missense 0.038 benign 0.07 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116565072 1q32.1 1 206101782G> A null V I 69 69 0.003594 missense 0.012 benign 0.12 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs781971472 1q32.1 1 206101793C> A null D E 72 72 missense 0.055 benign 0.02 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed rs1285764243 1q32.1 1 206101791G> A null D N 72 72 missense 0.073 benign 0.03 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782343742 1q32.1 1 206101794C> G null P A 73 73 missense 0.209 benign 0.06 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed rs1225970146 1q32.1 1 206101795C> T null P L 73 73 missense 0.209 benign 0.04 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782343742 1q32.1 1 206101794C> T null P S 73 73 missense 0.135 benign 0.19 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs554798959 1q32.1 1 206101804T> C null L P 76 76 missense 0.044 benign 0.34 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein Ensembl rs891776529 1q32.1 1 206101808A> C null K N 77 77 missense 0.055 benign 0.26 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782436241 1q32.1 1 206101810A> T null N I 78 78 missense 0.588 possibly damaging 0.06 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782598871 1q32.1 1 206101819C> T null P L 81 81 missense 0.015 benign 0.02 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782598871 1q32.1 1 206101819C> G null P R 81 81 missense 0.102 benign 0.03 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC rs782408690 1q32.1 1 206101828_206101829insAGAAGTGAAACTCTACTTCTTA T null Y * 84 84 stop gained 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288463 1q32.1 1 206101827T> A null Y N 84 84 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed rs1376751400 1q32.1 1 206101830G> A null E K 85 85 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC rs782609969 1q32.1 1 206101836A> T null I L 87 87 missense 0.027 benign 0.24 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs1302000917 1q32.1 1 206101837T> C null I T 87 87 missense 0.076 benign 0.11 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed rs1346832730 1q32.1 1 206101842G> T null E * 89 89 stop gained 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs1157035020 1q32.1 1 206101845A> G null I V 90 90 missense 0.011 benign 0.22 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs1024361668 1q32.1 1 206101849C> T null T I 91 91 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs1024361668 1q32.1 1 206101849C> G null T R 91 91 missense 0.984 probably damaging 0.03 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs970301375 1q32.1 1 206101854T> G null Y D 93 93 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs1474327398 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 1q32.1 1 206101858T> C null V A 94 94 missense 0.988 probably damaging 0.0 deleterious 1 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288482 1q32.1 1 206101864T> A null V D 96 96 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782782460 1q32.1 1 206101863G> A null V I 96 96 missense 0.561 possibly damaging 0.07 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782063429 1q32.1 1 206101866A> C null N H 97 97 missense 0.91 probably damaging 0.01 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs1187414505 1q32.1 1 206101867A> G null N S 97 97 missense 0.226 benign 0.05 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782744250 1q32.1 1 206101880C> G null H Q 101 101 missense 0.1 benign 0.14 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782744250 1q32.1 1 206101880C> A null H Q 101 101 missense 0.1 benign 0.14 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed rs1208635896 1q32.1 1 206101884C> T null P S 103 103 missense 0.062 benign 0.44 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein Ensembl rs1016840814 1q32.1 1 206101889T> G null S R 104 104 missense 0.039 benign 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein 1000Genomes,ExAC,gnomAD rs559403427 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 1q32.1 1 206101894G> A null W * 106 106 2.0E-4 missense 1 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782005226 1q32.1 1 206101896T> G null Y D 107 107 missense 0.088 benign 0.14 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288495 1q32.1 1 206101906A> C null N T 110 110 missense 0.175 benign 0.01 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288496 1q32.1 1 206101908C> T null P S 111 111 missense 0.21 benign 0.1 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782021865 1q32.1 1 206101927C> A null A E 117 117 missense 0.699 possibly damaging 0.07 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,TOPMed,gnomAD rs782021865 1q32.1 1 206101927C> T null A V 117 117 missense 0.003 benign 1.0 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs782183538 1q32.1 1 206101935G> C null D H 120 120 missense 0.434 benign 0.0 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288504 1q32.1 1 206101938C> G null Q E 121 121 missense 0.943 probably damaging 0.4 tolerated 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein ExAC,gnomAD rs781973923 1q32.1 1 206101942T> C null V A 122 122 missense 0.808 possibly damaging 0.02 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288506 1q32.1 1 206101944G> T null A S 123 123 missense 0.74 possibly damaging 0.05 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein TOPMed,gnomAD rs933636315 1q32.1 1 206101948T> C null M T 124 124 missense 0.4 benign 0.01 deleterious 0 A0A075B7E7 RHEX Regulator of hemoglobinization and erythroid cell expansion protein gnomAD rs1553288507 1q32.1 1 206101947A> G null M V 124 124 missense 0.014 benign 0.53 tolerated 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs568103639 16p11.2 16 33827219G> T null E D 2 2 2.0E-4 missense 0.007 benign 0.28 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs754862714 16p11.2 16 33827221T> C null F S 3 3 missense 0.051 benign 0.14 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs751450241 16p11.2 16 33827220T> G null F V 3 3 missense 0.216 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs754862714 16p11.2 16 33827221T> A null F Y 3 3 missense 0.03 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs780866074 16p11.2 16 33827223G> C null G R 4 4 missense 0.028 benign 0.33 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs777352806 16p11.2 16 33827227T> G null L R 5 5 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs748841132 16p11.2 16 33827230G> C null S T 6 6 missense 0.076 benign 0.04 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs780676866 16p11.2 16 33827234G> A null W * 7 7 stop gained 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs2019670 16p11.2 16 33827233G> A null W * 7 7 stop gained 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs780676866 16p11.2 16 33827234G> T null W C 7 7 missense 0.11 benign 0.18 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs780676866 16p11.2 16 33827234G> C null W C 7 7 missense 0.11 benign 0.18 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs2019670 16p11.2 16 33827233G> T null W L 7 7 missense 0.168 benign 0.15 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs747457404 16p11.2 16 33827240C> A null F L 9 9 missense 0.214 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs536049090 16p11.2 16 33827242T> C null L P 10 10 missense 0.968 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs535492870 16p11.2 16 33827245T> C null V A 11 11 2.0E-4 missense 0.062 benign 0.04 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs770191387 16p11.2 16 33827248C> T null A V 12 12 missense 0.031 benign 0.08 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs773537175 16p11.2 16 33827250A> G null I V 13 13 missense 0.007 benign 0.21 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs763197253 16p11.2 16 33827253T> G null L V 14 14 missense 0.242 benign 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs374700427 16p11.2 16 33827363T> G null C G 19 19 missense 0.168 benign 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs374700427 16p11.2 16 33827363T> C null C R 19 19 missense 0.917 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) Ensembl rs1555467993 16p11.2 16 33827368G> T null E D 20 20 missense 0.308 benign 0.11 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) Ensembl rs1555467993 16p11.2 16 33827368G> C null E D 20 20 missense 0.308 benign 0.11 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed rs774606881 16p11.2 16 33827367A> G null E G 20 20 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs771077805 16p11.2 16 33827366G> A null E K 20 20 missense 0.436 benign 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs745971093 16p11.2 16 33827369G> A null V M 21 21 missense 0.613 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs772187924 16p11.2 16 33827372C> T null Q * 22 22 stop gained 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1369993605 16p11.2 16 33827374G> T null Q H 22 22 missense 0.968 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs28494899 16p11.2 16 33827379T> A null V E 24 24 missense 0.168 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs558117278 16p11.2 16 33827381G> A null E K 25 25 3.99E-4 missense 0.436 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1425808877 16p11.2 16 33827385C> G null S C 26 26 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1387291930 16p11.2 16 33827384T> C null S P 26 26 missense 0.971 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs576263136 16p11.2 16 33827387G> A null G R 27 27 2.0E-4 missense 0.993 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs576263136 16p11.2 16 33827387G> C null G R 27 27 2.0E-4 missense 0.993 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs576263136 16p11.2 16 33827387G> T null G W 27 27 2.0E-4 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1188441344 16p11.2 16 33827394G> C null G A 29 29 missense 0.935 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1188441344 16p11.2 16 33827394G> A null G D 29 29 missense 0.318 benign 0.17 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1229114446 16p11.2 16 33827393G> A null G S 29 29 missense 0.57 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs757908025 16p11.2 16 33827400T> A null V E 31 31 missense 0.96 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs750087170 16p11.2 16 33827399G> A null V I 31 31 missense 0.308 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs750087170 16p11.2 16 33827399G> C null V L 31 31 missense 0.308 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed rs1427473258 16p11.2 16 33827402C> T null Q * 32 32 stop gained 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs751049896 16p11.2 16 33827405C> G null P A 33 33 missense 0.935 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs756723358 16p11.2 16 33827406C> T null P L 33 33 missense 0.537 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1361065787 16p11.2 16 33827412G> C null G A 35 35 missense 0.076 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed rs1183629532 16p11.2 16 33827411G> C null G R 35 35 missense 0.119 benign 0.04 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1361065787 16p11.2 16 33827412G> T null G V 35 35 missense 0.17 benign 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs778372294 16p11.2 16 33827421G> A null R K 38 38 missense 0.047 benign 0.3 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1428068254 16p11.2 16 33827423C> A null L I 39 39 missense 0.669 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs779067889 16p11.2 16 33827430G> T null C F 41 41 missense 0.977 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs757606133 16p11.2 16 33827429T> G null C G 41 41 missense 0.632 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1383761543 16p11.2 16 33827433C> A null A E 42 42 missense 0.097 benign 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs772127957 16p11.2 16 33827432G> A null A T 42 42 missense 0.158 benign 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1363928692 16p11.2 16 33827435G> A null A T 43 43 missense 0.448 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs780110085 16p11.2 16 33827436C> T null A V 43 43 missense 0.669 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1293267030 16p11.2 16 33827450T> A null F I 48 48 missense 0.246 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1293267030 16p11.2 16 33827450T> G null F V 48 48 missense 0.246 benign 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs747049854 16p11.2 16 33827454G> A null S N 49 49 missense 0.076 benign 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1221434139 16p11.2 16 33827456A> G null S G 50 50 missense 0.007 benign 0.09 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs768630127 16p11.2 16 33827461C> G null Y * 51 51 stop gained 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1487047353 16p11.2 16 33827464G> T null W C 52 52 missense 0.84 possibly damaging 0.1 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1487047353 16p11.2 16 33827464G> C null W C 52 52 missense 0.84 possibly damaging 0.1 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs776519976 16p11.2 16 33827470C> G null H Q 54 54 missense 0.005 benign 0.33 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1247811645 16p11.2 16 33827469A> G null H R 54 54 missense 0.005 benign 0.27 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1187401892 16p11.2 16 33827468C> T null H Y 54 54 missense 0.005 benign 0.16 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed rs1309777328 16p11.2 16 33827472G> A null W * 55 55 stop gained 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1185690623 16p11.2 16 33827471T> C null W R 55 55 missense 0.619 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs544324947 16p11.2 16 33827475T> C null V A 56 56 2.0E-4 missense 0.168 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs769619522 16p11.2 16 33827477C> T null R C 57 57 missense 0.119 benign 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs556509089 16p11.2 16 33827478G> A null R H 57 57 5.99E-4 missense 0.119 benign 0.04 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1455289916 16p11.2 16 33827480C> G null Q E 58 58 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs4077614 16p11.2 16 33827483G> T null A S 59 59 missense 0.488 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed rs1407182944 16p11.2 16 33827493A> G null K R 62 62 missense 0.213 benign 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs759091676 16p11.2 16 33827496G> A null G E 63 63 missense 0.308 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs764734427 16p11.2 16 33827499T> C null L P 64 64 missense 0.308 benign 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs754362107 16p11.2 16 33827502T> C null V A 65 65 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs754362107 16p11.2 16 33827502T> G null V G 65 65 missense 0.04 benign 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs2002923 16p11.2 16 33827506G> A null W * 66 66 stop gained 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs750685075 16p11.2 16 33827508T> C null V A 67 67 missense 0.789 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs574843334 16p11.2 16 33827507G> A null V I 67 67 5.99E-4 missense 0.073 benign 0.15 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs780233844 16p11.2 16 33827511C> T null S L 68 68 missense 0.218 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs747133701 16p11.2 16 33827513C> T null R C 69 69 missense 0.013 benign 0.17 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs747133701 16p11.2 16 33827513C> G null R G 69 69 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs781050207 16p11.2 16 33827514G> A null R H 69 69 missense 0.005 benign 0.53 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs781050207 16p11.2 16 33827514G> T null R L 69 69 missense 0.0 benign 0.64 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs781050207 16p11.2 16 33827514G> C null R P 69 69 missense 0.005 benign 0.2 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) Ensembl rs1567256971 16p11.2 16 33827516A> T null I F 70 70 missense 0.852 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1244035930 16p11.2 16 33827517T> G null I S 70 70 missense 0.392 benign 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs773093763 16p11.2 16 33827523G> T null S I 72 72 missense 0.013 benign 0.15 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs773093763 16p11.2 16 33827523G> A null S N 72 72 missense 0.0 benign 0.44 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs769555368 16p11.2 16 33827522A> C null S R 72 72 missense 0.127 benign 0.27 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed rs1239892944 16p11.2 16 33827535G> A null S N 76 76 missense 0.003 benign 0.17 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed rs1329039657 16p11.2 16 33827537A> C null T P 77 77 missense 0.097 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs770753541 16p11.2 16 33827541G> A null S N 78 78 missense 0.001 benign 0.26 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1439022522 16p11.2 16 33827542C> G null S R 78 78 missense 0.005 benign 0.11 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs541895896 16p11.2 16 33827546G> C null A P 80 80 2.0E-4 missense 0.141 benign 0.1 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs541895896 16p11.2 16 33827546G> A null A T 80 80 2.0E-4 missense 0.071 benign 0.1 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1446849639 16p11.2 16 33827547C> T null A V 80 80 missense 0.158 benign 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1374915310 16p11.2 16 33827549G> A null D N 81 81 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs765620100 16p11.2 16 33827552T> C null S P 82 82 missense 0.168 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1327507894 16p11.2 16 33827553C> A null S Y 82 82 missense 0.235 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs2075113 16p11.2 16 33827555A> T null M L 83 83 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1442003296 16p11.2 16 33827556T> C null M T 83 83 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs2075113 16p11.2 16 33827555A> G null M V 83 83 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1208313006 16p11.2 16 33827558A> C null K Q 84 84 missense 0.259 benign 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1182790081 16p11.2 16 33827562G> A null G D 85 85 missense 0.53 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1483446587 16p11.2 16 33827561G> A null G S 85 85 missense 0.9 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1182790081 16p11.2 16 33827562G> T null G V 85 85 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed rs113762660 16p11.2 16 33827566A> T null Q H 86 86 missense 0.392 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs755136020 16p11.2 16 33827570A> G null T A 88 88 missense 0.433 benign 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs781340541 16p11.2 16 33827571C> T null T I 88 88 missense 0.433 benign 0.03 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1425633263 16p11.2 16 33827573A> C null I L 89 89 missense 0.246 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1425633263 16p11.2 16 33827573A> G null I V 89 89 missense 0.257 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed rs1481291664 16p11.2 16 33827581A> T null R S 91 91 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs756101815 16p11.2 16 33827580G> C null R T 91 91 missense 0.984 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) Ensembl rs1567257033 16p11.2 16 33827583A> G null D G 92 92 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1307955616 16p11.2 16 33827587T> A null N K 93 93 missense 0.158 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs777552527 16p11.2 16 33827588G> T null A S 94 94 missense 0.044 benign 0.37 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1407315109 16p11.2 16 33827591A> G null K E 95 95 missense 0.168 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs770843478 16p11.2 16 33827596C> A null N K 96 96 missense 0.259 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1217658397 16p11.2 16 33827597A> G null T A 97 97 missense 0.072 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs774200905 16p11.2 16 33827598C> T null T M 97 97 missense 0.132 benign 0.2 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs771783709 16p11.2 16 33827600C> G null L V 98 98 missense 0.188 benign 0.06 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs773590463 16p11.2 16 33827607T> C null L P 100 100 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs765813971 16p11.2 16 33827606C> G null L V 100 100 missense 0.825 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1015384014 16p11.2 16 33827609C> T null Q * 101 101 stop gained 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1015384014 16p11.2 16 33827609C> G null Q E 101 101 missense 0.324 benign 0.05 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1189087549 16p11.2 16 33827610A> C null Q P 101 101 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1421290799 16p11.2 16 33827612A> T null M L 102 102 missense 0.166 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs1421290799 16p11.2 16 33827612A> G null M V 102 102 missense 0.257 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs564675694 16p11.2 16 33827615A> G null N D 103 103 2.0E-4 missense 0.168 benign 0.06 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs532022609 16p11.2 16 33827618A> G null S G 104 104 2.0E-4 missense 0.062 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1427067481 16p11.2 16 33827624A> T null R * 106 106 stop gained 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs767590064 16p11.2 16 33827628C> G null A G 107 107 missense 0.048 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs752874336 16p11.2 16 33827630G> A null E K 108 108 missense 0.308 benign 0.02 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1272516820 16p11.2 16 33827638G> A null M I 110 110 missense 0.009 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) gnomAD rs1227967680 16p11.2 16 33827637T> C null M T 110 110 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs757200299 16p11.2 16 33827643T> C null V A 112 112 missense 0.019 benign 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs749222544 16p11.2 16 33827642G> A null V M 112 112 missense 0.057 benign 0.22 tolerated - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs778854449 16p11.2 16 33827651T> C null C R 115 115 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) ExAC,gnomAD rs745617329 16p11.2 16 33827654A> C null T P 116 116 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A075B7E8 IGHV3OR16-13 Immunoglobulin heavy variable 3/OR16-13 (non-functional) (Fragment) TOPMed,gnomAD rs961172366 16p11.2 16 33827659A> C null R S 117 117 missense 0.894 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376715 1q32.1 1 206453214G> A null E K 6 6 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376721 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206453217G> A null A T 7 7 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782553255 1q32.1 1 206453227A> T null K M 10 10 missense 0.905 possibly damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376727 1q32.1 1 206453229T> C null F L 11 11 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376734 1q32.1 1 206453236A> G null Y C 13 13 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,TOPMed,gnomAD rs368723990 1q32.1 1 206453238G> A null V M 14 14 missense 0.01 benign 0.06 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1166290927 1q32.1 1 206453241G> A null G S 15 15 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373240789 1q32.1 1 206453245G> A null R Q 16 16 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC rs782518032 1q32.1 1 206453251C> T null A V 18 18 missense 0.007 benign 0.06 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376777 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q32.1 1 206453253C> T null R * 19 19 stop gained 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782611082 1q32.1 1 206453254G> T null R L 19 19 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782611082 1q32.1 1 206453254G> A null R Q 19 19 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1466545625 1q32.1 1 206453269A> G null K R 24 24 missense 0.015 benign 0.04 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376804 1q32.1 1 206453274G> T null G * 26 26 stop gained 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782015320 1q32.1 1 206453283C> G null L V 29 29 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs534391977 1q32.1 1 206453287T> A null L Q 30 30 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782290329 1q32.1 1 206453299G> A null R Q 34 34 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782374407 1q32.1 1 206453302C> T null A V 35 35 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781996641 1q32.1 1 206453307G> A null D N 37 37 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376838 1q32.1 1 206453310G> A null D N 38 38 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782363098 1q32.1 1 206453326G> A null R Q 43 43 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs781922187 1q32.1 1 206453331A> G null N D 45 45 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782068780 1q32.1 1 206453332A> G null N S 45 45 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553376861 1q32.1 1 206453335G> A null G D 46 46 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1553376865 1q32.1 1 206453337A> G null I V 47 47 missense 0.001 benign 1.0 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs781908994 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206453340G> A null D N 48 48 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782799900 1q32.1 1 206453349A> G null I V 51 51 missense 0.924 probably damaging 0.9 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs900718580 1q32.1 1 206453353C> T null P L 52 52 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs769054196 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206453367G> A null V M 57 57 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs377297991 1q32.1 1 206453373C> G null Q E 59 59 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1348741525 1q32.1 1 206453376G> A null D N 60 60 missense 0.366 benign 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782551475 1q32.1 1 206453380C> T null T I 61 61 missense 0.892 possibly damaging 0.19 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782551475 1q32.1 1 206453380C> A null T N 61 61 missense 0.7 possibly damaging 0.02 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373706280 1q32.1 1 206454879G> A null E K 62 62 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782560820 1q32.1 1 206454884C> G null D E 63 63 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782351219 1q32.1 1 206454885G> T null G C 64 64 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782351219 1q32.1 1 206454885G> A null G S 64 64 missense 0.999 probably damaging 0.19 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1403354055 1q32.1 1 206454888G> A null V I 65 65 missense 0.03 benign 0.06 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs781912772 1q32.1 1 206454891G> A null V M 66 66 missense 0.591 possibly damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377784 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206454894G> A null E K 67 67 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1457259064 1q32.1 1 206454898G> A null R K 68 68 missense 0.977 probably damaging 0.09 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377794 1q32.1 1 206454906C> T null P S 71 71 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782413632 1q32.1 1 206454936C> G null P A 81 81 missense 0.997 probably damaging 0.09 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377804 1q32.1 1 206454940C> T null P L 82 82 missense 0.999 probably damaging 0.75 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782026187 1q32.1 1 206454942G> A null E K 83 83 missense 0.992 probably damaging 0.11 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs367891634 1q32.1 1 206454946A> G null E G 84 84 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,NCI-TCGA,gnomAD rs782774981 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206454957G> A null A T 88 88 missense 0.354 benign 0.29 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377821 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206454961G> T null R I 89 89 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372717466 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206454964C> T null A V 90 90 missense 0.057 benign 0.25 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782691545 1q32.1 1 206454967G> C null G A 91 91 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377838 1q32.1 1 206454969G> A null A T 92 92 missense 0.011 benign 0.43 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377845 1q32.1 1 206454972A> C null S R 93 93 missense 0.67 possibly damaging 0.2 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs932553630 1q32.1 1 206454976G> C null C S 94 94 missense 0.991 probably damaging 1.0 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782531606 1q32.1 1 206454988G> T null G V 98 98 missense 1.0 probably damaging 0.25 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377858 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206454990C> T null H Y 99 99 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368222074 1q32.1 1 206454993G> A null V I 100 100 missense 0.019 benign 1.0 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368222074 1q32.1 1 206454993G> T null V L 100 100 missense 0.133 benign 0.32 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782524607 1q32.1 1 206454999G> A null D N 102 102 missense 0.753 possibly damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782611608 1q32.1 1 206455003T> C null I T 103 103 missense 0.987 probably damaging 0.34 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377874 1q32.1 1 206455002A> G null I V 103 103 missense 0.924 probably damaging 0.51 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1282456900 1q32.1 1 206455012C> G null A G 106 106 missense 0.389 benign 0.61 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553377889 1q32.1 1 206455015A> G null N S 107 107 missense 0.322 benign 0.33 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379143 1q32.1 1 206458373A> G null N S 111 111 missense 0.0 benign 0.02 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782359347 1q32.1 1 206458379A> G null H R 113 113 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379153 1q32.1 1 206458381C> A null L I 114 114 missense 0.578 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379156 1q32.1 1 206458384G> C null D H 115 115 missense 0.009 benign 0.29 tolerated - low confidence 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379168 1q32.1 1 206458397C> G null P R 119 119 missense 0.908 possibly damaging 0.03 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,TOPMed,gnomAD rs189775597 1q32.1 1 206458399G> A null V M 120 120 3.99E-4 missense 0.009 benign 0.09 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes rs537281475 1q32.1 1 206458409A> G null K R 123 123 2.0E-4 missense 0.197 benign 1.0 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782539732 1q32.1 1 206458633C> T null R C 127 127 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,NCI-TCGA,gnomAD rs782635494 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206458634G> A null R H 127 127 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782255159 1q32.1 1 206458637C> T null P L 128 128 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379263 1q32.1 1 206458640A> G null E G 129 129 missense 0.995 probably damaging 0.05 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1359526051 1q32.1 1 206458643C> A null S Y 130 130 missense 0.412 benign 0.43 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782477538 1q32.1 1 206458651A> G null I V 133 133 missense 0.924 probably damaging 0.34 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782183034 1q32.1 1 206458655G> A null R Q 134 134 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,NCI-TCGA,gnomAD rs373934616 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206458654C> T null R W 134 134 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782666240 1q32.1 1 206458659A> T null K N 135 135 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782301652 1q32.1 1 206458660A> G null T A 136 136 missense 0.001 benign 1.0 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782084194 1q32.1 1 206458667G> A null R Q 138 138 missense 0.991 probably damaging 0.33 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782371268 1q32.1 1 206458666C> T null R W 138 138 missense 0.998 probably damaging 0.07 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1248041095 1q32.1 1 206458669A> G null S G 139 139 missense 0.986 probably damaging 0.63 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs533088717 1q32.1 1 206458674C> G null D E 140 140 2.0E-4 missense 0.017 benign 0.42 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs1553379288 1q32.1 1 206458672G> A null D N 140 140 missense 0.366 benign 0.03 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781929068 1q32.1 1 206458675A> G null S G 141 141 missense 0.001 benign 0.5 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782144033 1q32.1 1 206458676G> A null S N 141 141 missense 0.026 benign 0.31 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs546870767 1q32.1 1 206458679A> G null H R 142 142 2.0E-4 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379304 1q32.1 1 206458681G> A null G R 143 143 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781854281 1q32.1 1 206458685T> G null L R 144 144 missense 0.999 probably damaging 0.14 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379317 1q32.1 1 206458694C> T null S F 147 147 missense 0.575 possibly damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1347826976 1q32.1 1 206458703A> G null D G 150 150 missense 0.755 possibly damaging 0.33 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379330 1q32.1 1 206458705T> G null S A 151 151 missense 0.044 benign 1.0 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1287329486 1q32.1 1 206458706C> T null S F 151 151 missense 0.612 possibly damaging 0.58 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1287329486 1q32.1 1 206458706C> A null S Y 151 151 missense 0.612 possibly damaging 0.82 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs1553379339 1q32.1 1 206458709C> A null S Y 152 152 missense 0.412 benign 0.15 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1242463825 1q32.1 1 206458712C> T null S F 153 153 missense 0.575 possibly damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs781836125 1q32.1 1 206458715C> T null P L 154 154 missense 0.0 benign 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379344 1q32.1 1 206458714C> T null P S 154 154 missense 0.0 benign 0.1 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379345 1q32.1 1 206458717G> T null G W 155 155 missense 0.967 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,gnomAD rs566770978 1q32.1 1 206458720G> T null V L 156 156 2.0E-4 missense 0.0 benign 0.68 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1396827085 1q32.1 1 206458724G> A null G E 157 157 missense 0.753 possibly damaging 0.19 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782586714 1q32.1 1 206458729A> G null S G 159 159 missense 0.0 benign 0.45 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,gnomAD rs375839614 1q32.1 1 206458735C> T null R C 161 161 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369067137 1q32.1 1 206458736G> A null R H 161 161 missense 0.997 probably damaging 0.15 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1374818752 1q32.1 1 206458750C> A null P T 166 166 missense 0.999 probably damaging 0.14 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782346878 1q32.1 1 206458755C> G null I M 167 167 missense 0.361 benign 0.06 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs201372620 1q32.1 1 206458753A> G null I V 167 167 missense 0.003 benign 0.65 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379418 1q32.1 1 206458762C> G null Q E 170 170 missense 0.953 probably damaging 1.0 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs975042106 1q32.1 1 206458764G> C null Q H 170 170 missense 0.996 probably damaging 0.19 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,gnomAD rs528938907 1q32.1 1 206458768C> T null L F 172 172 2.0E-4 missense 0.998 probably damaging 0.71 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379438 1q32.1 1 206458775A> G null K R 174 174 missense 0.992 probably damaging 0.54 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377016252 1q32.1 1 206458781G> A null G E 176 176 7.99E-4 missense 0.753 possibly damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1361557172 1q32.1 1 206458780G> C null G R 176 176 missense 0.862 possibly damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377016252 1q32.1 1 206458781G> T null G V 176 176 7.99E-4 missense 0.682 possibly damaging 0.14 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1424053337 1q32.1 1 206458790A> G null K R 179 179 missense 0.992 probably damaging 0.41 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782029118 1q32.1 1 206458792T> C null C R 180 180 missense 0.997 probably damaging 1.0 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782112538 1q32.1 1 206458801A> G null S G 183 183 missense 0.168 benign 0.39 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs781945701 1q32.1 1 206458805G> A null G E 184 184 missense 0.987 probably damaging 0.02 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,TOPMed,gnomAD rs370966048 1q32.1 1 206458807C> G null H D 185 185 missense 0.615 possibly damaging 0.06 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,TOPMed,gnomAD rs370966048 1q32.1 1 206458807C> T null H Y 185 185 missense 0.519 possibly damaging 0.26 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs201642341 1q32.1 1 206458810G> A null G R 186 186 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs201642341 1q32.1 1 206458810G> T null G W 186 186 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782145300 1q32.1 1 206458816C> T null L F 188 188 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781857554 1q32.1 1 206458820A> T null N I 189 189 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781857554 1q32.1 1 206458820A> G null N S 189 189 missense 0.992 probably damaging 0.64 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379478 1q32.1 1 206458826T> C null I T 191 191 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782524903 1q32.1 1 206458825A> G null I V 191 191 missense 0.924 probably damaging 0.15 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs553049915 1q32.1 1 206458831C> T null R C 193 193 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs568887983 1q32.1 1 206458832G> A null R H 193 193 3.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379490 1q32.1 1 206458836C> G null H Q 194 194 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782438560 1q32.1 1 206458835A> G null H R 194 194 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs937040513 1q32.1 1 206458841C> T null S F 196 196 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782601158 1q32.1 1 206458848G> C null K N 198 198 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373165643 1q32.1 1 206458853G> T null R L 200 200 missense 0.995 probably damaging 0.58 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373165643 1q32.1 1 206458853G> A null R Q 200 200 missense 0.991 probably damaging 0.33 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs537911400 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206458852C> T null R W 200 200 2.0E-4 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782210132 1q32.1 1 206458859A> C null D A 202 202 missense 0.366 benign 0.04 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782210132 1q32.1 1 206458859A> G null D G 202 202 missense 0.45 possibly damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379509 1q32.1 1 206458858G> A null D N 202 202 missense 0.366 benign 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379515 1q32.1 1 206458861A> G null S G 203 203 missense 0.452 possibly damaging 0.39 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782357195 1q32.1 1 206458863T> A null S R 203 203 missense 0.713 possibly damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379522 1q32.1 1 206458870A> C null I L 206 206 missense 0.924 probably damaging 0.84 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782401043 1q32.1 1 206458874G> A null R Q 207 207 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs570977025 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206458873C> T null R W 207 207 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1457940830 1q32.1 1 206458880C> T null T I 209 209 missense 0.301 benign 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379534 1q32.1 1 206458883C> T null A V 210 210 missense 0.001 benign 0.91 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1369887225 1q32.1 1 206458886C> T null T I 211 211 missense 0.998 probably damaging 0.09 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782035100 1q32.1 1 206458889C> T null A V 212 212 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379544 1q32.1 1 206458892G> A null G E 213 213 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379548 1q32.1 1 206458896G> C null R S 214 214 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs568447589 1q32.1 1 206458919G> C null R P 222 222 5.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs568447589 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206458919G> A null R Q 222 222 5.99E-4 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1475122037 1q32.1 1 206458918C> T null R W 222 222 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781961814 1q32.1 1 206458921C> T null P S 223 223 missense 0.998 probably damaging 0.58 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782705518 1q32.1 1 206458925T> C null M T 224 224 missense 0.0 benign 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs781814693 1q32.1 1 206458929C> A null D E 225 225 missense 0.995 probably damaging 0.55 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1261597860 1q32.1 1 206458930C> T null P S 226 226 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553379593 1q32.1 1 206458942G> A null A T 230 230 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782555219 1q32.1 1 206458943C> T null A V 230 230 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782738714 1q32.1 1 206461038A> G null D G 232 232 missense 0.458 possibly damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs564689449 1q32.1 1 206461050C> G null T R 236 236 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs527397324 1q32.1 1 206461054G> T null M I 237 237 2.0E-4 missense 0.409 benign 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1423679644 1q32.1 1 206461052A> G null M V 237 237 missense 0.234 benign 0.04 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed rs370250383 1q32.1 1 206461056A> C null N T 238 238 missense 0.452 possibly damaging 0.06 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs781890702 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206461059C> T null S L 239 239 missense 0.991 probably damaging 0.05 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs781874765 1q32.1 1 206461077G> C null R P 245 245 missense 0.005 benign 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs781874765 1q32.1 1 206461077G> A null R Q 245 245 missense 0.003 benign 0.03 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368662127 1q32.1 1 206461076C> T null R W 245 245 missense 0.655 possibly damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553380397 1q32.1 1 206461085G> T null E * 248 248 stop gained 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782189313 1q32.1 1 206461089G> A null R Q 249 249 missense 0.535 possibly damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs560648736 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 206461088C> T null R W 249 249 2.0E-4 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553380417 1q32.1 1 206461094A> G null S G 251 251 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs368388712 1q32.1 1 206461095G> A null S N 251 251 missense 0.986 probably damaging 0.64 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782241683 1q32.1 1 206461097A> T null S C 252 252 missense 0.485 possibly damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782388546 1q32.1 1 206461098G> A null S N 252 252 missense 0.001 benign 0.14 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs1012225932 1q32.1 1 206461103A> G null K E 254 254 missense 0.599 possibly damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1441098562 1q32.1 1 206461112C> T null P S 257 257 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200308937 1q32.1 1 206461118G> T null V L 259 259 2.0E-4 missense 0.99 probably damaging 0.04 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200308937 1q32.1 1 206461118G> A null V M 259 259 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1374107094 1q32.1 1 206461127G> A null D N 262 262 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553380453 1q32.1 1 206461128A> T null D V 262 262 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs781860018 1q32.1 1 206461133T> G null L V 264 264 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553380465 1q32.1 1 206461139C> G null P A 266 266 missense 0.997 probably damaging 0.13 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,gnomAD rs569563902 1q32.1 1 206461140C> T null P L 266 266 2.0E-4 missense 0.999 probably damaging 0.14 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) Ensembl rs977558888 1q32.1 1 206461146A> G null K R 268 268 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,gnomAD rs782746884 1q32.1 1 206461152C> T null S F 270 270 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,gnomAD rs531883192 1q32.1 1 206461154C> G null P A 271 271 2.0E-4 missense 0.997 probably damaging 0.14 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1389857045 1q32.1 1 206461155C> A null P Q 271 271 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553380489 1q32.1 1 206461157G> C null V L 272 272 missense 0.087 benign 0.55 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553380489 1q32.1 1 206461157G> A null V M 272 272 missense 0.575 possibly damaging 0.14 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553380500 1q32.1 1 206461161T> C null V A 273 273 missense 0.001 benign 0.88 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553380504 1q32.1 1 206461164C> T null A V 274 274 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191430839 1q32.1 1 206461170C> T null T M 276 276 0.001198 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs376636227 1q32.1 1 206461178C> T null P S 279 279 missense 0.998 probably damaging 0.42 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs376636227 1q32.1 1 206461178C> A null P T 279 279 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116377172 1q32.1 1 206461181T> A null S T 280 280 0.007188 missense 0.986 probably damaging 0.17 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed,gnomAD rs1296148845 1q32.1 1 206461182C> A null S Y 280 280 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553380522 1q32.1 1 206461185G> A null S N 281 281 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553380528 1q32.1 1 206461188C> T null P L 282 282 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373261411 1q32.1 1 206461197C> A null T N 285 285 missense 0.455 possibly damaging 0.2 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373261411 1q32.1 1 206461197C> G null T S 285 285 missense 0.168 benign 0.54 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) TOPMed rs1386540353 1q32.1 1 206461208A> G null K E 289 289 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) ExAC,TOPMed,gnomAD rs782391090 1q32.1 1 206461215C> T null P L 291 291 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs567746303 1q32.1 1 206461217G> A null E K 292 292 2.0E-4 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs536473733 1q32.1 1 206461223G> T null A S 294 294 2.0E-4 missense 0.023 benign 0.07 tolerated 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs536473733 1q32.1 1 206461223G> A null A T 294 294 2.0E-4 missense 0.234 benign 0.0 deleterious 0 A0A075B7E9 SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 (Fragment) gnomAD rs1553380551 1q32.1 1 206461224C> T null A V 294 294 missense 0.304 benign 0.03 deleterious 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs556657580 16p11.2 16 32995051G> C null E Q 2 2 2.0E-4 missense 0.051 benign 0.03 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1374553520 16p11.2 16 32995054T> C null F L 3 3 missense 0.005 benign 0.61 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs777870137 16p11.2 16 32995058T> C null V A 4 4 missense 0.003 benign 0.85 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1304068656 16p11.2 16 32995061T> A null L Q 5 5 missense 0.971 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed rs893131320 16p11.2 16 32995064G> A null S N 6 6 missense 0.02 benign 0.14 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed rs1298405142 16p11.2 16 32995067G> A null W * 7 7 stop gained 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed rs1437985178 16p11.2 16 32995068G> T null W C 7 7 missense 0.062 benign 0.15 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs1373651097 16p11.2 16 32995069G> T null V F 8 8 missense 0.109 benign 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs1373651097 16p11.2 16 32995069G> C null V L 8 8 missense 0.029 benign 0.08 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1207247564 16p11.2 16 32995202G> A null G D 16 16 missense 0.316 benign 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs1327580610 16p11.2 16 32995212T> G null C W 19 19 missense 0.949 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed rs1393924823 16p11.2 16 32995211G> A null C Y 19 19 missense 0.825 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs756322109 16p11.2 16 32995213G> A null E K 20 20 missense 0.793 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs777907833 16p11.2 16 32995216G> T null V F 21 21 missense 0.826 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs777907833 16p11.2 16 32995216G> A null V I 21 21 missense 0.026 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs777907833 16p11.2 16 32995216G> C null V L 21 21 missense 0.026 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1394737700 16p11.2 16 32995219C> T null Q * 22 22 stop gained 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs757237503 16p11.2 16 32995220A> C null Q P 22 22 missense 0.948 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs745676525 16p11.2 16 32995222C> A null L M 23 23 missense 0.952 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs771794504 16p11.2 16 32995226T> C null V A 24 24 missense 0.79 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs779738356 16p11.2 16 32995232C> G null S C 26 26 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs573049370 16p11.2 16 32995235G> C null G A 27 27 3.99E-4 missense 0.339 benign 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs573049370 16p11.2 16 32995235G> A null G E 27 27 3.99E-4 missense 0.707 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs1290570634 16p11.2 16 32995234G> A null G R 27 27 missense 0.978 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs1290570634 16p11.2 16 32995234G> T null G W 27 27 missense 0.857 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1381462378 16p11.2 16 32995238G> T null G V 28 28 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs894347981 16p11.2 16 32995240G> A null G S 29 29 missense 0.515 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs759994493 16p11.2 16 32995247T> C null V A 31 31 missense 0.286 benign 0.04 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs540548812 16p11.2 16 32995246G> A null V I 31 31 2.0E-4 missense 0.057 benign 0.03 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs540548812 16p11.2 16 32995246G> C null V L 31 31 2.0E-4 missense 0.057 benign 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs767983769 16p11.2 16 32995249C> G null H D 32 32 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs764132763 16p11.2 16 32995250A> T null H L 32 32 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs767983769 16p11.2 16 32995249C> A null H N 32 32 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs1442218598 16p11.2 16 32995251T> G null H Q 32 32 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs767983769 16p11.2 16 32995249C> T null H Y 32 32 missense 0.029 benign 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs753977697 16p11.2 16 32995255G> T null G W 34 34 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs765230726 16p11.2 16 32995258G> A null G R 35 35 missense 0.602 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1420971349 16p11.2 16 32995259G> T null G V 35 35 missense 0.975 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs758254432 16p11.2 16 32995262C> G null S C 36 36 missense 0.387 benign 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs559472619 16p11.2 16 32995264C> A null L M 37 37 2.0E-4 missense 0.73 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1156663611 16p11.2 16 32995265T> A null L Q 37 37 missense 0.947 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1376880753 16p11.2 16 32995268G> C null R T 38 38 missense 0.309 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs951171310 16p11.2 16 32995270C> T null L F 39 39 missense 0.985 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs951171310 16p11.2 16 32995270C> A null L I 39 39 missense 0.706 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1301902167 16p11.2 16 32995271T> C null L P 39 39 missense 0.877 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs780669939 16p11.2 16 32995277G> T null C F 41 41 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs780669939 16p11.2 16 32995277G> A null C Y 41 41 missense 0.939 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs1335725313 16p11.2 16 32995280C> A null A E 42 42 missense 0.078 benign 0.04 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs769129837 16p11.2 16 32995279G> C null A P 42 42 missense 0.077 benign 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs769129837 16p11.2 16 32995279G> A null A T 42 42 missense 0.024 benign 0.04 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs1335725313 16p11.2 16 32995280C> T null A V 42 42 missense 0.031 benign 0.23 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs746376630 16p11.2 16 32995283G> C null G A 43 43 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs746376630 16p11.2 16 32995283G> T null G V 43 43 missense 0.005 benign 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs772608205 16p11.2 16 32995289G> A null G E 45 45 missense 0.991 probably damaging 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs533380479 16p11.2 16 32995293C> G null F L 46 46 2.0E-4 missense 0.224 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1417900315 16p11.2 16 32995295C> G null T S 47 47 missense 0.063 benign 0.04 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs764379146 16p11.2 16 32995298T> C null F S 48 48 missense 0.941 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) Ensembl rs1567297524 16p11.2 16 32995300A> T null S C 49 49 missense 0.834 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) Ensembl rs1567297524 16p11.2 16 32995300A> G null S G 49 49 missense 0.021 benign 0.03 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1177894657 16p11.2 16 32995301G> A null S N 49 49 missense 0.011 benign 0.04 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs762009158 16p11.2 16 32995303A> G null S G 50 50 missense 0.021 benign 0.07 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs765226055 16p11.2 16 32995304G> A null S N 50 50 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1176539524 16p11.2 16 32995307A> G null Y C 51 51 missense 0.293 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1396589216 16p11.2 16 32995310C> T null A V 52 52 missense 0.001 benign 0.39 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed rs1172651509 16p11.2 16 32995312A> G null M V 53 53 missense 0.054 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1357097166 16p11.2 16 32995320G> A null W * 55 55 stop gained 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs766255396 16p11.2 16 32995324C> T null R C 57 57 missense 0.942 probably damaging 0.04 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs551878299 16p11.2 16 32995325G> A null R H 57 57 2.0E-4 missense 0.775 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs766255396 16p11.2 16 32995324C> A null R S 57 57 missense 0.997 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1445130606 16p11.2 16 32995331C> T null A V 59 59 missense 0.194 benign 0.03 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed rs976362458 16p11.2 16 32995333C> G null P A 60 60 missense 0.886 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1306291413 16p11.2 16 32995334C> T null P L 60 60 missense 0.986 probably damaging 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1372120900 16p11.2 16 32995336G> T null G * 61 61 stop gained 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs780911913 16p11.2 16 32995340A> G null K R 62 62 missense 0.898 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) Ensembl rs1403936376 16p11.2 16 32995342G> T null G C 63 63 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1205290439 16p11.2 16 32995348G> A null E K 65 65 missense 0.932 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1250894652 16p11.2 16 32995354G> T null V L 67 67 missense 0.125 benign 0.14 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs755718596 16p11.2 16 32995367G> A null G D 71 71 missense 0.005 benign 0.22 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs878961083 16p11.2 16 32995369A> G null T A 72 72 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1454517652 16p11.2 16 32995372G> T null G C 73 73 missense 0.152 benign 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs563776877 16p11.2 16 32995373G> T null G V 73 73 2.0E-4 missense 0.584 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed rs932174190 16p11.2 16 32995376G> A null G D 74 74 missense 0.018 benign 0.04 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1422589817 16p11.2 16 32995375G> A null G S 74 74 missense 0.012 benign 0.46 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs772732713 16p11.2 16 32995379G> A null G D 75 75 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs746430073 16p11.2 16 32995378G> A null G S 75 75 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1422217481 16p11.2 16 32995381A> G null T A 76 76 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1463630201 16p11.2 16 32995382C> T null T I 76 76 missense 0.007 benign 0.09 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1395906595 16p11.2 16 32995385A> G null Y C 77 77 missense 0.918 probably damaging 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1395906595 16p11.2 16 32995385A> T null Y F 77 77 missense 0.046 benign 0.05 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1328469309 16p11.2 16 32995384T> C null Y H 77 77 missense 0.062 benign 0.11 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs747388495 16p11.2 16 32995397C> A null S Y 81 81 missense 0.303 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs776975758 16p11.2 16 32995399G> A null V M 82 82 missense 0.713 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs549592611 16p11.2 16 32995404G> T null K N 83 83 0.001797 missense 0.321 benign 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1316091799 16p11.2 16 32995405G> A null G S 84 84 missense 0.746 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs769964179 16p11.2 16 32995408C> T null R * 85 85 stop gained 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs773301127 16p11.2 16 32995409G> T null R L 85 85 missense 0.525 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs773301127 16p11.2 16 32995409G> A null R Q 85 85 missense 0.572 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1468896471 16p11.2 16 32995413C> A null F L 86 86 missense 0.411 benign 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1244700631 16p11.2 16 32995415C> T null T I 87 87 missense 0.322 benign 0.03 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs567897706 16p11.2 16 32995414A> T null T S 87 87 0.001797 missense 0.163 benign 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1486734844 16p11.2 16 32995418T> A null I N 88 88 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs766308615 16p11.2 16 32995423A> G null R G 90 90 missense 0.634 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs751442699 16p11.2 16 32995428C> G null D E 91 91 missense 0.06 benign 0.07 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1476537279 16p11.2 16 32995427A> G null D G 91 91 missense 0.389 benign 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs759436239 16p11.2 16 32995429A> G null N D 92 92 missense 0.074 benign 0.12 tolerated - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs767214080 16p11.2 16 32995432G> A null A T 93 93 missense 0.048 benign 0.05 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1161167024 16p11.2 16 32995437G> T null K N 94 94 missense 0.227 benign 0.03 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1347258419 16p11.2 16 32995438A> G null N D 95 95 missense 0.108 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1297773431 16p11.2 16 32995442C> T null S F 96 96 missense 0.47 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1431959517 16p11.2 16 32995441T> C null S P 96 96 missense 0.532 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1297773431 16p11.2 16 32995442C> A null S Y 96 96 missense 0.703 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs752437013 16p11.2 16 32995446G> T null L F 97 97 missense 0.356 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1416672765 16p11.2 16 32995453C> G null Q E 100 100 missense 0.152 benign 0.04 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs914604686 16p11.2 16 32995462A> T null S C 103 103 missense 0.952 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs914604686 16p11.2 16 32995462A> C null S R 103 103 missense 0.335 benign 0.03 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed,gnomAD rs946165097 16p11.2 16 32995464C> G null S R 103 103 missense 0.335 benign 0.03 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs534987336 16p11.2 16 32995465C> A null L M 104 104 0.001198 missense 0.923 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1217125690 16p11.2 16 32995476G> C null E D 107 107 missense 0.046 benign 0.05 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs753398230 16p11.2 16 32995474G> A null E K 107 107 missense 0.169 benign 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC,gnomAD rs756765471 16p11.2 16 32995477G> T null D Y 108 108 missense 0.986 probably damaging 0.02 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) ExAC rs780761455 16p11.2 16 32995480A> G null M V 109 109 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) TOPMed rs907237121 16p11.2 16 32995484C> T null A V 110 110 missense 0.392 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1487139312 16p11.2 16 32995487T> C null V A 111 111 missense 0.093 benign 0.01 deleterious - low confidence 0 A0A075B7F0 IGHV3OR16-10 Immunoglobulin heavy variable 3/OR16-10 (non-functional) (Fragment) gnomAD rs1257522173 16p11.2 16 32995499C> G null A G 115 115 missense 0.527 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC rs746941187 16p11.2 16 33009178G> T null E * 2 2 stop gained 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs768633254 16p11.2 16 33009179A> T null E V 2 2 missense 0.751 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs761634555 16p11.2 16 33009184G> A null G R 4 4 missense 0.044 benign 0.43 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs761634555 16p11.2 16 33009184G> C null G R 4 4 missense 0.044 benign 0.43 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) Ensembl rs1567299780 16p11.2 16 33009188T> A null L Q 5 5 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1313565420 16p11.2 16 33009191A> T null N I 6 6 missense 0.102 benign 0.06 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1422054909 16p11.2 16 33009196G> C null V L 8 8 missense 0.019 benign 0.08 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs556657808 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009201C> A null F L 9 9 3.99E-4 missense 0.037 benign 0.04 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1442888583 16p11.2 16 33009200T> C null F S 9 9 missense 0.145 benign 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1380623544 16p11.2 16 33009202C> T null L F 10 10 missense 0.397 benign 0.06 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1438879665 16p11.2 16 33009208G> C null A P 12 12 missense 0.924 probably damaging 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs765881187 16p11.2 16 33009209C> T null A V 12 12 missense 0.089 benign 0.09 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1394208858 16p11.2 16 33009211A> G null I V 13 13 missense 0.012 benign 0.21 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs753209078 16p11.2 16 33009215T> C null I T 14 14 missense 0.102 benign 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1170023431 16p11.2 16 33009318G> A null G D 16 16 missense 0.529 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs770618261 16p11.2 16 33009320G> T null A S 17 17 missense 0.449 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs770618261 16p11.2 16 33009320G> A null A T 17 17 missense 0.216 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs112677262 16p11.2 16 33009321C> T null A V 17 17 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1342662761 16p11.2 16 33009328_33009329de l null C * 19 19 stop gained 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1277716841 16p11.2 16 33009326T> C null C R 19 19 missense 0.137 benign 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs771543288 16p11.2 16 33009328T> G null C W 19 19 missense 0.96 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1263284040 16p11.2 16 33009329G> T null E * 20 20 stop gained 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs777192714 16p11.2 16 33009335C> G null Q E 22 22 missense 0.251 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs763189566 16p11.2 16 33009341G> T null V L 24 24 missense 0.036 benign 0.06 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs766731472 16p11.2 16 33009344G> A null E K 25 25 missense 0.967 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1489106595 16p11.2 16 33009350G> C null G R 27 27 missense 0.993 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC rs767699512 16p11.2 16 33009354G> A null G E 28 28 missense 0.708 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1163990139 16p11.2 16 33009353G> A null G R 28 28 missense 0.8 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs752738344 16p11.2 16 33009356G> C null G R 29 29 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs563808831 16p11.2 16 33009362G> A null V I 31 31 2.0E-4 missense 0.039 benign 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs563808831 16p11.2 16 33009362G> C null V L 31 31 2.0E-4 missense 0.024 benign 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1405121109 16p11.2 16 33009365C> T null Q * 32 32 stop gained 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1362685983 16p11.2 16 33009367G> C null Q H 32 32 missense 0.03 benign 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1163186789 16p11.2 16 33009366A> G null Q R 32 32 missense 0.046 benign 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1420462361 16p11.2 16 33009368C> G null P A 33 33 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1420462361 16p11.2 16 33009368C> T null P S 33 33 missense 0.993 probably damaging 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs756950011 16p11.2 16 33009372G> C null G A 34 34 missense 0.555 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs756950011 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009372G> A null G E 34 34 missense 0.906 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs749135947 16p11.2 16 33009371G> C null G R 34 34 missense 0.854 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs756950011 16p11.2 16 33009372G> T null G V 34 34 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374471833 16p11.2 16 33009375G> A null G E 35 35 0.001198 missense 0.517 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs745519893 16p11.2 16 33009374G> C null G R 35 35 missense 0.517 possibly damaging 0.05 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374471833 16p11.2 16 33009375G> T null G V 35 35 0.001198 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs773545492 16p11.2 16 33009377T> C null S P 36 36 missense 0.312 benign 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs773545492 16p11.2 16 33009377T> A null S T 36 36 missense 0.895 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1216828309 16p11.2 16 33009381T> C null L P 37 37 missense 0.993 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377667878 16p11.2 16 33009385A> T null R S 38 38 7.99E-4 missense 0.581 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs759819034 16p11.2 16 33009387T> A null L Q 39 39 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,gnomAD rs189103045 16p11.2 16 33009390C> T null S F 40 40 2.0E-4 missense 0.904 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs377057457 16p11.2 16 33009389T> C null S P 40 40 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1158230332 16p11.2 16 33009393G> T null C F 41 41 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs753692956 16p11.2 16 33009392T> G null C G 41 41 missense 0.672 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1158230332 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009393G> C null C S 41 41 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs778670908 16p11.2 16 33009395C> G null P A 42 42 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs142890554 16p11.2 16 33009399C> A null A D 43 43 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs142890554 16p11.2 16 33009399C> T null A V 43 43 missense 0.65 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs746553275 16p11.2 16 33009409C> G null F L 46 46 missense 0.369 benign 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs892529943 16p11.2 16 33009411C> T null T I 47 47 missense 0.896 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs892529943 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009411C> A null T N 47 47 missense 0.251 benign 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs773810022 16p11.2 16 33009413T> C null F L 48 48 missense 0.315 benign 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1330671000 16p11.2 16 33009417G> C null S T 49 49 missense 0.015 benign 0.04 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs368363987 16p11.2 16 33009421C> A null N K 50 50 missense 0.202 benign 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1278624719 16p11.2 16 33009422C> G null H D 51 51 missense 0.005 benign 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1441346160 16p11.2 16 33009423A> C null H P 51 51 missense 0.232 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1278624719 16p11.2 16 33009422C> T null H Y 51 51 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs546902847 16p11.2 16 33009427C> A null Y * 52 52 2.0E-4 stop gained 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs760853562 16p11.2 16 33009430G> A null M I 53 53 missense 0.151 benign 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs564509496 16p11.2 16 33009429T> A null M K 53 53 3.99E-4 missense 0.588 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371635699 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009428A> T null M L 53 53 missense 0.04 benign 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs564509496 16p11.2 16 33009429T> G null M R 53 53 3.99E-4 missense 0.685 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs564509496 16p11.2 16 33009429T> C null M T 53 53 3.99E-4 missense 0.648 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376195911 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009431A> T null S C 54 54 missense 0.971 probably damaging 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs753874814 16p11.2 16 33009433C> G null S R 54 54 missense 0.845 possibly damaging 0.22 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) Ensembl rs1567299888 16p11.2 16 33009437G> T null V F 56 56 missense 0.626 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs761757270 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009440C> T null R C 57 57 missense 0.513 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368891279 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009441G> A null R H 57 57 missense 0.32 benign 0.04 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs368891279 16p11.2 16 33009441G> C null R P 57 57 missense 0.513 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs201591192 16p11.2 16 33009446G> A null A T 59 59 missense 0.344 benign 0.06 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1330500934 16p11.2 16 33009450C> T null P L 60 60 missense 0.991 probably damaging 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC rs751141378 16p11.2 16 33009449C> T null P S 60 60 missense 0.842 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) Ensembl rs1567299894 16p11.2 16 33009452G> A null G R 61 61 missense 0.991 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373092647 16p11.2 16 33009464G> T null E * 65 65 0.003195 stop gained 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1438090983 16p11.2 16 33009465A> G null E G 65 65 missense 0.976 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs995061534 16p11.2 16 33009470G> T null V F 67 67 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs995061534 16p11.2 16 33009470G> A null V I 67 67 missense 0.162 benign 0.14 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,NCI-TCGA,gnomAD rs747636311 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009474C> T null S L 68 68 missense 0.51 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1319280521 16p11.2 16 33009479A> T null I F 70 70 missense 0.275 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs779521653 16p11.2 16 33009481T> G null I M 70 70 missense 0.574 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs771567125 16p11.2 16 33009480T> G null I S 70 70 missense 0.886 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1319280521 16p11.2 16 33009479A> G null I V 70 70 missense 0.088 benign 0.04 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs746254196 16p11.2 16 33009483G> T null S I 71 71 missense 0.792 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs746254196 16p11.2 16 33009483G> A null S N 71 71 missense 0.007 benign 0.72 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199938423 16p11.2 16 33009485G> T null G C 72 72 0.004193 missense 0.761 possibly damaging 0.11 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs974394885 16p11.2 16 33009486G> A null G D 72 72 missense 0.005 benign 0.52 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs760797504 16p11.2 16 33009490T> A null D E 73 73 missense 0.001 benign 0.06 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs201252363 16p11.2 16 33009488G> A null D N 73 73 missense 0.0 benign 0.43 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1178057322 16p11.2 16 33009491A> C null S R 74 74 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1425689451 16p11.2 16 33009492G> C null S T 74 74 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs776581404 16p11.2 16 33009498A> G null Y C 76 76 missense 0.681 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs761845153 16p11.2 16 33009504A> G null N S 78 78 missense 0.001 benign 0.23 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs765182796 16p11.2 16 33009508C> G null Y * 79 79 stop gained 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs766084113 16p11.2 16 33009510C> G null A G 80 80 missense 0.102 benign 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs373565926 16p11.2 16 33009509G> A null A T 80 80 missense 0.287 benign 0.09 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs754599940 16p11.2 16 33009514C> G null D E 81 81 missense 0.013 benign 0.08 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,NCI-TCGA,gnomAD rs751282209 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009512G> T null D Y 81 81 missense 0.961 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs752284683 16p11.2 16 33009522A> T null K M 84 84 missense 0.564 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs755633584 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009523G> T null K N 84 84 missense 0.508 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1210865834 16p11.2 16 33009521A> C null K Q 84 84 missense 0.144 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs779609759 16p11.2 16 33009524G> C null G R 85 85 missense 0.8 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs779609759 16p11.2 16 33009524G> A null G S 85 85 missense 0.549 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs746342179 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 16p11.2 16 33009527C> T null R * 86 86 stop gained 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs772551269 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009528G> A null R Q 86 86 missense 0.874 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs568923464 16p11.2 16 33009531T> G null F C 87 87 2.0E-4 missense 0.934 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ESP,TOPMed,gnomAD rs376196589 16p11.2 16 33009532C> G null F L 87 87 missense 0.643 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs747336505 16p11.2 16 33009533A> G null T A 88 88 missense 0.223 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1473642230 16p11.2 16 33009534C> T null T I 88 88 missense 0.412 benign 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs747336505 16p11.2 16 33009533A> C null T P 88 88 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1401890705 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009537T> C null I T 89 89 missense 1.0 probably damaging 0.04 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs776867214 16p11.2 16 33009536A> G null I V 89 89 missense 0.661 possibly damaging 0.04 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs761931281 16p11.2 16 33009540C> G null S C 90 90 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs761931281 16p11.2 16 33009540C> T null S F 90 90 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs878889088 16p11.2 16 33009544G> C null R S 91 91 missense 0.85 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs773200849 16p11.2 16 33009545G> A null D N 92 92 missense 0.404 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs762865352 16p11.2 16 33009546A> T null D V 92 92 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1380690398 16p11.2 16 33009551G> T null A S 94 94 missense 0.054 benign 0.43 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1380690398 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009551G> A null A T 94 94 missense 0.088 benign 0.05 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs774021726 16p11.2 16 33009552C> T null A V 94 94 missense 0.19 benign 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs370645488 16p11.2 16 33009556T> G null N K 95 95 2.0E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1357753418 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009555A> G null N S 95 95 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs767097381 16p11.2 16 33009557A> G null N D 96 96 missense 0.369 benign 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1487984495 16p11.2 16 33009559C> G null N K 96 96 missense 0.718 possibly damaging 0.03 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs767097381 16p11.2 16 33009557A> T null N Y 96 96 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202153851 16p11.2 16 33009563C> G null P A 98 98 2.0E-4 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs199912700 16p11.2 16 33009564C> T null P L 98 98 3.99E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs199912700 16p11.2 16 33009564C> A null P Q 98 98 3.99E-4 missense 0.029 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs199912700 16p11.2 16 33009564C> G null P R 98 98 3.99E-4 missense 0.029 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1317579901 16p11.2 16 33009568T> G null Y * 99 99 stop gained 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1188181533 16p11.2 16 33009569C> G null L V 100 100 missense 0.98 probably damaging 0.02 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1442578590 16p11.2 16 33009577G> C null M I 102 102 missense 0.556 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1225790236 16p11.2 16 33009576T> A null M K 102 102 missense 0.405 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs780572557 16p11.2 16 33009579A> C null N T 103 103 missense 0.124 benign 0.04 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs747359404 16p11.2 16 33009582G> A null S N 104 104 missense 0.039 benign 0.13 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1286684023 16p11.2 16 33009585T> A null L Q 105 105 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs148468025 16p11.2 16 33009584C> G null L V 105 105 missense 0.672 possibly damaging 0.06 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1432295772 16p11.2 16 33009588G> C null R T 106 106 missense 0.132 benign 0.07 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs769920276 16p11.2 16 33009591C> A null A D 107 107 missense 0.06 benign 0.05 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs748364867 16p11.2 16 33009590G> T null A S 107 107 missense 0.17 benign 0.31 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs769920276 16p11.2 16 33009591C> T null A V 107 107 missense 0.027 benign 0.16 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1367267448 16p11.2 16 33009594A> C null E A 108 108 missense 0.836 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs749299638 16p11.2 16 33009596G> A null D N 109 109 missense 0.728 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs749299638 16p11.2 16 33009596G> T null D Y 109 109 missense 0.978 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs899065858 16p11.2 16 33009600C> T null T M 110 110 missense 0.743 possibly damaging 0.09 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1187269216 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009602G> A null A T 111 111 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1257766730 16p11.2 16 33009603C> T null A V 111 111 missense 0.62 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1048019201 16p11.2 16 33009606T> C null V A 112 112 missense 0.445 benign 0.01 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs759295896 16p11.2 16 33009605G> A null V M 112 112 missense 0.175 benign 0.2 tolerated - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1009157299 16p11.2 16 33009608T> C null Y H 113 113 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed rs1009157299 16p11.2 16 33009608T> A null Y N 113 113 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs775346233 16p11.2 16 33009609A> C null Y S 113 113 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC rs760386988 16p11.2 16 33009611T> C null Y H 114 114 missense 0.893 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) TOPMed,gnomAD rs1314423707 16p11.2 16 33009612A> C null Y S 114 114 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs753434721 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p11.2 16 33009615G> T null C F 115 115 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ESP,ExAC,TOPMed,gnomAD rs371211294 16p11.2 16 33009614T> G null C G 115 115 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,TOPMed,gnomAD rs753434721 16p11.2 16 33009615G> C null C S 115 115 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) gnomAD rs1255512768 16p11.2 16 33009618T> A null V E 116 116 missense 0.147 benign 0.0 deleterious - low confidence 0 A0A075B7F1 IGHV3OR16-8 Immunoglobulin heavy variable 3/OR16-8 (non-functional) (Fragment) ExAC,gnomAD rs756744661 16p11.2 16 33009617G> C null V L 116 116 missense 0.039 benign 0.04 deleterious - low confidence 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1299588637 17q12 17 35809574C> T null S L 2 2 missense 0.007 benign 0.12 tolerated - low confidence 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201725844 17q12 17 35817719C> G null S C 4 4 2.0E-4 missense 0.303 benign 0.03 deleterious - low confidence 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs201725844 17q12 17 35817719C> T null S F 4 4 2.0E-4 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs755427943 17q12 17 35817730G> T null G C 8 8 missense 0.782 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs755427943 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35817730G> A null G S 8 8 missense 0.007 benign 0.98 tolerated - low confidence 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,gnomAD rs371465984 17q12 17 35817733C> G null Q E 9 9 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP rs147128613 17q12 17 35817737C> A null S Y 10 10 missense 0.165 benign 0.01 deleterious - low confidence 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs748733855 17q12 17 35817743G> T null G V 12 12 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs772438557 17q12 17 35817752A> C null Q P 15 15 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1473830418 17q12 17 35820026A> G null Y C 17 17 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1048679642 17q12 17 35820029C> G null S C 18 18 missense 0.642 possibly damaging 0.09 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1048679642 17q12 17 35820029C> T null S F 18 18 missense 0.571 possibly damaging 0.03 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1164012513 17q12 17 35820031A> G null T A 19 19 missense 0.003 benign 0.41 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs1568249550 17q12 17 35820032C> T null T I 19 19 missense 0.015 benign 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs372731106 17q12 17 35820035A> G null Y C 20 20 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs888286847 17q12 17 35820050G> A null S N 25 25 missense 0.0 benign 1.0 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed rs747456807 17q12 17 35820055G> A null G S 27 27 missense 0.072 benign 0.78 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1173357142 17q12 17 35820059A> G null Y C 28 28 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs771188948 17q12 17 35820067G> A null A T 31 31 missense 0.0 benign 0.34 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs867368545 17q12 17 35820071C> T null S L 32 32 missense 0.009 benign 0.13 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1333432793 17q12 17 35820073C> G null Q E 33 33 missense 0.83 possibly damaging 0.05 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1186148742 17q12 17 35820165G> C null S T 34 34 missense 0.037 benign 0.14 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs758845012 17q12 17 35820168A> T null Y F 35 35 missense 0.969 probably damaging 0.05 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs778265884 17q12 17 35820177A> G null Y C 38 38 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs752174348 17q12 17 35820180G> A null G E 39 39 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs757807284 17q12 17 35820182C> G null Q E 40 40 missense 0.006 benign 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1220399747 17q12 17 35820185A> G null T A 41 41 missense 0.012 benign 0.07 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs141034613 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35820186C> T null T M 41 41 missense 0.009 benign 0.15 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs769847550 17q12 17 35820195C> T null S F 44 44 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs769847550 17q12 17 35820195C> A null S Y 44 44 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs367951957 17q12 17 35820210A> G null N S 49 49 missense 0.015 benign 0.65 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1252124068 17q12 17 35820212T> A null Y N 50 50 missense 0.994 probably damaging 0.12 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs370590248 17q12 17 35820215A> G null S G 51 51 missense 0.0 benign 1.0 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs771921231 17q12 17 35820217C> A null S R 51 51 missense 0.071 benign 0.04 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs117677306 17q12 17 35820218G> A null G S 52 52 5.99E-4 missense 0.012 benign 0.39 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs770880724 17q12 17 35820222A> C null Y S 53 53 missense 0.634 possibly damaging 0.21 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs776594217 17q12 17 35820228G> A null S N 55 55 missense 0.0 benign 0.28 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1306504808 17q12 17 35820234G> A null G E 57 57 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1233999736 17q12 17 35820332G> T null S I 59 59 missense 0.571 possibly damaging 0.02 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1055033083 17q12 17 35820338C> T null S L 61 61 missense 0.088 benign 0.06 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs768664655 17q12 17 35820343T> C null S P 63 63 missense 0.991 probably damaging 0.06 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs199773598 17q12 17 35820347A> G null Y C 64 64 2.0E-4 missense 0.997 probably damaging 0.05 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs779061658 17q12 17 35820350G> A null G D 65 65 missense 0.161 benign 0.12 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs779061658 17q12 17 35820350G> T null G V 65 65 missense 0.24 benign 0.06 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs191538892 17q12 17 35820352G> T null G C 66 66 2.0E-4 missense 0.864 possibly damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs79779012 17q12 17 35820358G> T null E * 68 68 stop gained 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1193517734 17q12 17 35820359A> G null E G 68 68 missense 0.223 benign 0.76 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1393848119 17q12 17 35820362A> C null N T 69 69 missense 0.987 probably damaging 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1452011390 17q12 17 35820368A> C null K T 71 71 missense 0.994 probably damaging 0.23 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs929675313 17q12 17 35820374G> T null S I 73 73 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs770695906 17q12 17 35820380A> G null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1286778049 17q12 17 35820382A> G null S G 76 76 missense 0.0 benign 1.0 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs759501848 17q12 17 35820390A> T null Q H 78 78 missense 0.421 benign 0.11 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs775104921 17q12 17 35820395A> G null Y C 80 80 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs775104921 17q12 17 35820395A> T null Y F 80 80 missense 0.98 probably damaging 0.04 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs762741886 17q12 17 35820403C> T null Q * 83 83 stop gained 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1316430890 17q12 17 35820406G> A null G R 84 84 missense 0.849 possibly damaging 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1237098487 17q12 17 35820410A> G null Q R 85 85 missense 0.145 benign 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,TOPMed,gnomAD rs202037143 17q12 17 35820416A> G null Q R 87 87 missense 0.082 benign 0.3 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs542549270 17q12 17 35820421A> C null M L 89 89 missense 0.001 benign 0.78 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs542549270 17q12 17 35820421A> G null M V 89 89 missense 0.0 benign 0.56 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1339842171 17q12 17 35820427T> C null S P 91 91 missense 0.006 benign 0.13 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147936141 17q12 17 35820431C> T null S L 92 92 2.0E-4 missense 0.003 benign 0.42 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1044218864 17q12 17 35822656C> T null P S 100 100 missense 0.013 benign 0.4 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368588705 17q12 17 35822659T> G null S A 101 101 2.0E-4 missense 0.554 possibly damaging 0.04 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs766945476 17q12 17 35822663A> G null Y C 102 102 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs781461546 17q12 17 35822670G> T null Q H 104 104 missense 0.693 possibly damaging 0.02 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs754279768 17q12 17 35822671C> G null P A 105 105 missense 0.001 benign 0.69 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs755066520 17q12 17 35822675A> G null D G 106 106 missense 0.059 benign 0.4 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs200841311 17q12 17 35822678A> G null Y C 107 107 missense 0.011 benign 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs765284784 17q12 17 35822677T> C null Y H 107 107 missense 0.838 possibly damaging 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1212862475 17q12 17 35822680G> C null G R 108 108 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs758610893 17q12 17 35822686C> T null Q * 110 110 stop gained 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1283356639 17q12 17 35822695T> G null Y D 113 113 missense 0.996 probably damaging 0.07 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,gnomAD rs755825241 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35822699A> G null D G 114 114 missense 0.0 benign 0.3 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1351821253 17q12 17 35822701C> G null Q E 115 115 missense 0.047 benign 0.17 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs750484421 17q12 17 35822704C> G null Q E 116 116 missense 0.088 benign 0.02 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs756643512 17q12 17 35822705A> G null Q R 116 116 missense 0.127 benign 0.04 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs749226539 17q12 17 35822711G> A null G D 118 118 missense 0.999 probably damaging 0.32 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs780144032 17q12 17 35822710G> A null G S 118 118 missense 0.999 probably damaging 0.24 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140601071 17q12 17 35822714A> G null Y C 119 119 0.001597 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs962733364 17q12 17 35822717A> G null D G 120 120 missense 0.993 probably damaging 1.0 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs747804787 17q12 17 35822719C> G null Q E 121 121 missense 0.088 benign 0.02 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs747804787 17q12 17 35822719C> A null Q K 121 121 missense 0.088 benign 0.15 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1472037899 17q12 17 35822726A> G null Q R 123 123 missense 0.0 benign 0.16 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs772703762 17q12 17 35822729G> A null G D 124 124 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs771783055 17q12 17 35822728G> A null G S 124 124 missense 0.994 probably damaging 0.22 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,gnomAD rs182638009 17q12 17 35822732C> T null S L 125 125 3.99E-4 missense 0.943 probably damaging 0.02 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs777176556 17q12 17 35822738A> C null D A 127 127 missense 0.003 benign 0.04 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs777176556 17q12 17 35822738A> G null D G 127 127 missense 0.081 benign 0.59 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1221391352 17q12 17 35822740G> C null E Q 128 128 missense 0.001 benign 1.0 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1417413418 17q12 17 35822743C> G null Q E 129 129 missense 0.006 benign 0.06 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs954155077 17q12 17 35822749A> G null N D 131 131 missense 0.059 benign 0.28 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs954155077 17q12 17 35822749A> T null N Y 131 131 missense 0.003 benign 0.03 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1157014378 17q12 17 35822753A> G null Y C 132 132 missense 0.823 possibly damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1421107593 17q12 17 35822752T> G null Y D 132 132 missense 0.776 possibly damaging 0.03 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1302628988 17q12 17 35822756A> G null D G 133 133 missense 0.0 benign 1.0 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,TOPMed,gnomAD rs369432616 17q12 17 35822759A> T null Q L 134 134 missense 0.047 benign 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,TOPMed,gnomAD rs369432616 17q12 17 35822759A> G null Q R 134 134 missense 0.086 benign 0.12 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs765336144 17q12 17 35822765A> T null H L 136 136 missense 0.117 benign 0.61 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1192825486 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35822768A> G null D G 137 137 missense 0.981 probably damaging 0.53 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs752796451 17q12 17 35822774A> G null Y C 139 139 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1241264482 17q12 17 35822777G> A null S N 140 140 missense 0.0 benign 1.0 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1214182865 17q12 17 35822783A> C null N T 142 142 missense 0.987 probably damaging 0.08 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs762891086 17q12 17 35822785C> A null Q K 143 143 missense 0.954 probably damaging 0.06 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1359998232 17q12 17 35822788C> G null Q E 144 144 missense 0.954 probably damaging 0.09 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs764407967 17q12 17 35822791T> A null S T 145 145 missense 0.325 benign 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs755949830 17q12 17 35822795A> G null Y C 146 146 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs78280513 17q12 17 35822803C> A null Q K 149 149 missense 0.954 probably damaging 0.07 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs779992517 17q12 17 35822804A> T null Q L 149 149 missense 0.969 probably damaging 0.03 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs777740721 17q12 17 35822807G> A null R K 150 150 missense 0.969 probably damaging 1.0 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs754944712 17q12 17 35822813A> C null N T 152 152 missense 0.059 benign 0.03 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs140961224 17q12 17 35822816A> G null Y C 153 153 missense 0.875 possibly damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1317931466 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35822824C> T null H Y 156 156 missense 0.003 benign 0.38 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1278572423 17q12 17 35824082C> A null D E 160 160 missense 0.986 probably damaging 0.37 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs550494407 17q12 17 35824084G> A null R H 161 161 2.0E-4 missense 0.003 benign 0.21 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP rs376365511 17q12 17 35824086C> T null R C 162 162 missense 0.005 benign 0.06 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1273517576 17q12 17 35824087G> A null R H 162 162 missense 0.005 benign 0.2 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1263461100 17q12 17 35824093T> A null V E 164 164 missense 0.062 benign 0.23 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1211697448 17q12 17 35824092G> A null V M 164 164 missense 0.003 benign 0.1 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC rs752427176 17q12 17 35824102du p null Y * 167 167 stop gained 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs200557877 17q12 17 35824123A> G null Y C 174 174 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1231393292 17q12 17 35824125G> A null G S 175 175 missense 0.999 probably damaging 0.13 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs746261562 17q12 17 35824129G> A null G E 176 176 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,TOPMed rs780771102 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35824128G> A null G R 176 176 missense 1.0 probably damaging 0.15 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs746261562 17q12 17 35824129G> T null G V 176 176 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1417534294 17q12 17 35824132C> G null S * 177 177 stop gained 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs200567401 17q12 17 35824131T> G null S A 177 177 missense 0.039 benign 0.11 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1460242058 17q12 17 35824135A> G null Q R 178 178 missense 0.969 probably damaging 0.29 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,gnomAD rs529493663 17q12 17 35824146A> G null R G 182 182 2.0E-4 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,TOPMed rs372463855 17q12 17 35824149G> A null G R 183 183 missense 0.04 benign 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1379881863 17q12 17 35824150G> T null G V 183 183 missense 0.79 possibly damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs761936944 17q12 17 35824152C> G null R G 184 184 missense 0.057 benign 0.19 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs892678406 17q12 17 35824153G> A null R H 184 184 missense 0.0 benign 0.18 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1416189464 17q12 17 35824170G> A null D N 190 190 missense 0.831 possibly damaging 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs764931450 17q12 17 35824185A> G null M V 195 195 missense 0.006 benign 0.53 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed rs376331245 17q12 17 35824198G> A null S N 199 199 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs980403927 17q12 17 35833917C> T null R C 203 203 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1268378138 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35833918G> A null R H 203 203 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs760977388 17q12 17 35833921G> A null G D 204 204 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs773631114 17q12 17 35833920G> A null G S 204 204 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs760977388 17q12 17 35833921G> T null G V 204 204 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1484773104 17q12 17 35833934T> G null N K 208 208 missense 0.997 probably damaging 0.18 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1207133479 17q12 17 35833939G> A null G D 210 210 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs747280253 17q12 17 35834566G> A null G D 211 211 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs201942273 17q12 17 35834570C> G null H Q 212 212 missense 0.855 possibly damaging 0.52 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC rs144989857 17q12 17 35834571A> G null R G 213 213 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1183500233 17q12 17 35834578A> C null Y S 215 215 missense 0.85 possibly damaging 0.03 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1452778860 17q12 17 35834589A> G null T A 219 219 missense 0.139 benign 0.41 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes rs549951201 17q12 17 35834590C> T null T I 219 219 2.0E-4 missense 0.705 possibly damaging 0.12 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs768438384 17q12 17 35834595G> T null A S 221 221 missense 0.068 benign 0.31 tolerated 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1233113159 17q12 17 35836132A> T null D V 222 222 missense 0.068 benign 0.01 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1026350400 17q12 17 35836138A> G null E G 224 224 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1205847839 17q12 17 35836152G> A null D N 229 229 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1251330845 17q12 17 35836161A> G null T A 232 232 missense 0.995 probably damaging 0.05 deleterious 0 A0A075B7F2 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs746088434 17q12 17 35836164A> G null I V 233 233 missense 0.566 possibly damaging 0.14 tolerated 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs753441803 17q12 17 35844079C> T null R C 2 2 missense 0.649 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs986517085 17q12 17 35844080G> A null R H 2 2 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs771224081 17q12 17 35844089A> G null Y C 5 5 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1207328747 17q12 17 35844093A> T null R S 6 6 missense 0.723 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs746353802 17q12 17 35844095G> T null G V 7 7 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs769954060 17q12 17 35844098G> A null R H 8 8 missense 0.917 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs769954060 17q12 17 35844098G> C null R P 8 8 missense 0.935 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs775409107 17q12 17 35844101G> A null G E 9 9 missense 0.084 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1245625743 17q12 17 35844104G> A null G D 10 10 missense 0.136 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs764442141 17q12 17 35844111A> C null Q H 12 12 missense 0.192 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,TOPMed,gnomAD rs368895737 17q12 17 35844119G> A null G D 15 15 missense 0.136 benign 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1376774152 17q12 17 35844131A> G null K R 19 19 missense 0.006 benign 0.03 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs374463934 17q12 17 35844135T> A null S R 20 20 missense 0.075 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1298161351 17q12 17 35844149G> T null C F 25 25 missense 0.944 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1385425941 17q12 17 35844151C> T null P S 26 26 missense 0.131 benign 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs148009008 17q12 17 35844154A> G null N D 27 27 missense 0.42 benign 0.03 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs148009008 17q12 17 35844154A> C null N H 27 27 missense 0.874 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed rs143482731 17q12 17 35844158C> T null P L 28 28 missense 0.406 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1292954697 17q12 17 35844286C> G null C W 30 30 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs774779964 17q12 17 35844287G> A null G R 31 31 missense 0.964 probably damaging 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs762094316 17q12 17 35844290A> C null N H 32 32 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs200512010 17q12 17 35844294T> C null M T 33 33 2.0E-4 missense 0.035 benign 0.05 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs776311001 17q12 17 35844297A> T null N I 34 34 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1240050231 17q12 17 35844302G> C null A P 36 36 missense 0.936 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs756736611 17q12 17 35844303C> T null A V 36 36 missense 0.811 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1323607123 17q12 17 35844305C> T null R * 37 37 stop gained 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1323607123 17q12 17 35844305C> G null R G 37 37 missense 0.518 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs765087079 17q12 17 35844306G> C null R P 37 37 missense 0.838 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs765087079 17q12 17 35844306G> A null R Q 37 37 missense 0.027 benign 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1244721651 17q12 17 35844321A> G null N S 42 42 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1264303915 17q12 17 35844323C> G null Q E 43 43 missense 0.37 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs763593086 17q12 17 35844330A> T null N I 45 45 missense 0.605 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs757966118 17q12 17 35844329A> T null N Y 45 45 missense 0.773 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1482601565 17q12 17 35844334G> T null E D 46 46 missense 0.479 possibly damaging 0.07 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1179661131 17q12 17 35844335C> T null P S 47 47 missense 0.998 probably damaging 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs751256719 17q12 17 35844338A> G null R G 48 48 missense 0.423 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs1159683668 17q12 17 35844348A> G null D G 51 51 missense 0.045 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs147145070 17q12 17 35844347G> A null D N 51 51 missense 0.876 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs202180032 17q12 17 35844353C> T null R C 53 53 missense 0.901 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs202180032 17q12 17 35844353C> G null R G 53 53 missense 0.019 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs140268553 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844354G> A null R H 53 53 missense 0.871 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,TOPMed,gnomAD rs372454711 17q12 17 35844356C> G null P A 54 54 missense 0.025 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs780439108 17q12 17 35844359T> A null S T 55 55 missense 0.035 benign 0.48 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs375783267 17q12 17 35844363G> A null G E 56 56 missense 0.078 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1301599242 17q12 17 35844480T> G null F C 59 59 missense 0.926 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs71381481 17q12 17 35844483G> A null R Q 60 60 3.99E-4 missense 0.015 benign 0.27 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs754444912 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844482C> T null R W 60 60 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1363866728 17q12 17 35844486G> A null G E 61 61 missense 0.23 benign 0.47 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1279787383 17q12 17 35844495A> G null Y C 64 64 missense 0.847 possibly damaging 0.11 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,gnomAD rs200734404 17q12 17 35844497G> A null G S 65 65 2.0E-4 missense 0.014 benign 0.2 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs1568282239 17q12 17 35844501G> A null G E 66 66 missense 0.587 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs747254712 17q12 17 35844507G> C null R T 68 68 missense 0.101 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,gnomAD rs373505000 17q12 17 35844510G> C null G A 69 69 missense 0.164 benign 0.05 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs1568282291 17q12 17 35844513A> G null Y C 70 70 missense 0.416 benign 0.08 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs144954918 17q12 17 35844515A> G null R G 71 71 missense 0.015 benign 0.13 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200175347 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844521C> T null R C 73 73 missense 0.649 possibly damaging 0.11 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs376580614 17q12 17 35844522G> A null R H 73 73 missense 0.003 benign 0.18 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376580614 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35844522G> T null R L 73 73 missense 0.253 benign 0.24 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1392295438 17q12 17 35844525G> A null G E 74 74 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1056845388 17q12 17 35844524G> A null G R 74 74 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,gnomAD rs537797497 17q12 17 35844528G> A null G D 75 75 2.0E-4 missense 0.974 probably damaging 1.0 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs761326413 17q12 17 35844527G> A null G S 75 75 missense 0.943 probably damaging 0.37 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs772779416 17q12 17 35844543G> A null R Q 80 80 missense 0.007 benign 0.03 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) NCI-TCGA,TOPMed,gnomAD rs746865431 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844545G> A null G S 81 81 missense 0.34 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs554593706 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844548G> A null G S 82 82 3.99E-4 missense 0.027 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1276245309 17q12 17 35844552A> C null Y S 83 83 missense 0.647 possibly damaging 0.05 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs765850053 17q12 17 35844560G> A null D N 86 86 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs753239090 17q12 17 35844563A> G null R G 87 87 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1446216101 17q12 17 35844567G> T null S I 88 88 missense 0.024 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs777882018 17q12 17 35844569G> C null G R 89 89 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs777882018 17q12 17 35844569G> A null G R 89 89 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1267486635 17q12 17 35844573G> C null G A 90 90 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1267486635 17q12 17 35844573G> T null G V 90 90 missense 0.24 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs1555619593 17q12 17 35844575G> T null G C 91 91 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs757524355 17q12 17 35844576G> A null G D 91 91 missense 0.147 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200046706 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844579A> G null Y C 92 92 2.0E-4 missense 0.949 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs749087298 17q12 17 35844581G> T null G C 93 93 missense 0.976 probably damaging 0.12 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs866430901 17q12 17 35844593A> G null S G 97 97 missense 0.058 benign 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs774330994 17q12 17 35844594G> A null S N 97 97 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs576937289 17q12 17 35844596A> G null S G 98 98 3.99E-4 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs772800431 17q12 17 35844598C> G null S R 98 98 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs766057799 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35844599G> A null G S 99 99 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs776361883 17q12 17 35844600G> T null G V 99 99 missense 0.017 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs758920002 17q12 17 35844611A> G null S G 103 103 missense 0.0 benign 0.94 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1287490076 17q12 17 35844614G> A null G R 104 104 missense 0.369 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ESP,TOPMed rs372580198 17q12 17 35844619T> G null D E 105 105 3.99E-4 missense 0.015 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1200279896 17q12 17 35844618A> T null D V 105 105 missense 0.06 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1327069727 17q12 17 35844620A> G null R G 106 106 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1236045641 17q12 17 35844623A> T null S C 107 107 missense 0.753 possibly damaging 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1457039138 17q12 17 35844624G> T null S I 107 107 missense 0.423 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs868647545 17q12 17 35844625T> G null S R 107 107 missense 0.015 benign 0.05 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs764463484 17q12 17 35844627G> C null G A 108 108 missense 0.949 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs751695123 17q12 17 35844629G> A null G S 109 109 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1468873515 17q12 17 35844630G> T null G V 109 109 missense 0.571 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs757219694 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844632G> A null G S 110 110 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs781408279 17q12 17 35844636A> G null Y C 111 111 missense 0.895 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1250046596 17q12 17 35844639G> A null G D 112 112 missense 0.66 possibly damaging 0.54 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1181994819 17q12 17 35844638G> A null G S 112 112 missense 0.726 possibly damaging 0.63 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1476500379 17q12 17 35844642G> C null G A 113 113 missense 0.058 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs754834476 17q12 17 35844650A> G null S G 116 116 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs778656806 17q12 17 35844652T> G null S R 116 116 missense 0.367 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs1568283205 17q12 17 35844654G> A null G E 117 117 missense 0.943 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs747847692 17q12 17 35844653G> A null G R 117 117 missense 0.962 probably damaging 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs375026627 17q12 17 35844656G> T null G C 118 118 missense 0.847 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,gnomAD rs770549195 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844657G> A null G D 118 118 missense 0.372 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs375026627 17q12 17 35844656G> A null G S 118 118 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1410045851 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844659G> A null G S 119 119 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs560923327 17q12 17 35844663A> G null Y C 120 120 2.0E-4 missense 0.949 probably damaging 0.03 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1348364823 17q12 17 35844662T> G null Y D 120 120 missense 0.553 possibly damaging 0.07 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1348364823 17q12 17 35844662T> A null Y N 120 120 missense 0.553 possibly damaging 0.1 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs560923327 17q12 17 35844663A> C null Y S 120 120 2.0E-4 missense 0.448 possibly damaging 0.09 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1355747871 17q12 17 35844666G> A null G D 121 121 missense 0.179 benign 0.8 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs763191596 17q12 17 35844668G> A null G R 122 122 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1204671510 17q12 17 35844673C> G null D E 123 123 missense 0.063 benign 0.65 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs751955764 17q12 17 35844677G> A null G S 125 125 missense 0.003 benign 0.23 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs767580494 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844680G> A null G S 126 126 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs372970936 17q12 17 35844683G> A null G S 127 127 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1237351064 17q12 17 35844684G> T null G V 127 127 missense 0.037 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs1568283502 17q12 17 35844688_35844692de l null Y * 128 128 stop gained 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs756351856 17q12 17 35844687A> G null Y C 128 128 missense 0.949 probably damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1369857240 17q12 17 35844686T> C null Y H 128 128 missense 0.068 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs546855616 17q12 17 35844690G> T null G V 129 129 2.0E-4 missense 0.076 benign 0.18 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1429214614 17q12 17 35844696A> G null D G 131 131 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs758067673 17q12 17 35844695G> T null D Y 131 131 missense 0.351 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1167530389 17q12 17 35844699G> A null R K 132 132 missense 0.063 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs181978759 17q12 17 35844707G> T null G C 135 135 2.0E-4 missense 0.575 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs181978759 17q12 17 35844707G> C null G R 135 135 2.0E-4 missense 0.261 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs181978759 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844707G> A null G S 135 135 2.0E-4 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1339872184 17q12 17 35844711A> G null Y C 136 136 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs777993379 17q12 17 35844717G> A null G E 138 138 missense 0.563 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed rs543739946 17q12 17 35844722C> T null R * 140 140 0.003395 stop gained 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1227979250 17q12 17 35844723G> A null R Q 140 140 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1313053684 17q12 17 35844725G> C null G R 141 141 missense 0.431 benign 0.03 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1009603479 17q12 17 35844728G> C null G R 142 142 missense 0.81 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs561062059 17q12 17 35844860G> A null G S 143 143 2.0E-4 missense 0.765 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs771088255 17q12 17 35844864A> G null Y C 144 144 missense 0.85 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs907833904 17q12 17 35844863T> C null Y H 144 144 missense 0.028 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs1568284688 17q12 17 35844866G> C null G R 145 145 missense 0.011 benign 0.27 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes rs200860217 17q12 17 35844874C> G null D E 147 147 2.0E-4 missense 0.678 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC rs776593603 17q12 17 35844873A> G null D G 147 147 missense 0.011 benign 0.02 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs759624546 17q12 17 35844879G> T null S I 149 149 missense 0.282 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs868791776 17q12 17 35844880C> A null S R 149 149 missense 0.112 benign 0.03 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs775800221 17q12 17 35844882G> T null R L 150 150 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs775800221 17q12 17 35844882G> C null R P 150 150 missense 0.045 benign 0.27 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs775800221 17q12 17 35844882G> A null R Q 150 150 missense 0.026 benign 0.31 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs770998506 17q12 17 35844881C> T null R W 150 150 missense 0.157 benign 0.03 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1156795308 17q12 17 35844884G> A null G R 151 151 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs767417430 17q12 17 35844887G> C null G R 152 152 missense 0.147 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs767417430 17q12 17 35844887G> A null G S 152 152 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1458425946 17q12 17 35844888G> T null G V 152 152 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs750426077 17q12 17 35844891A> G null Y C 153 153 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1388934261 17q12 17 35844890T> C null Y H 153 153 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs755983345 17q12 17 35844894G> A null G E 154 154 missense 0.988 probably damaging 0.33 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs899244241 17q12 17 35844902C> T null R C 157 157 missense 0.55 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs532683371 17q12 17 35844903G> A null R H 157 157 2.0E-4 missense 0.178 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs753292569 17q12 17 35844906G> A null G D 158 158 missense 0.986 probably damaging 0.8 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs374159744 17q12 17 35844909G> A null G D 159 159 missense 0.07 benign 0.37 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1244793355 17q12 17 35844912G> A null G D 160 160 missense 0.034 benign 0.21 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs747791734 17q12 17 35844915G> A null S N 161 161 missense 0.031 benign 0.08 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs747791734 17q12 17 35844915G> C null S T 161 161 missense 0.042 benign 0.16 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114353269 17q12 17 35844923G> A null G S 164 164 0.004992 missense 0.023 benign 0.11 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs747321705 17q12 17 35844924G> T null G V 164 164 missense 0.367 benign 0.03 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,TOPMed,gnomAD rs190154706 17q12 17 35844926G> A null G R 165 165 2.0E-4 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs771376087 17q12 17 35844932C> T null R * 167 167 stop gained 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs373334865 17q12 17 35844933G> A null R Q 167 167 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1346740979 17q12 17 35844935A> G null S G 168 168 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs376749338 17q12 17 35844936G> C null S T 168 168 missense 0.042 benign 0.03 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs769906988 17q12 17 35844938G> A null G R 169 169 missense 0.068 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1431905192 17q12 17 35844941G> T null G C 170 170 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202014042 17q12 17 35844945A> G null Y C 171 171 2.0E-4 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202014042 17q12 17 35844945A> C null Y S 171 171 2.0E-4 missense 0.075 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1381753101 17q12 17 35844955C> A null D E 174 174 missense 0.033 benign 0.01 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs772041521 17q12 17 35844960G> A null S N 176 176 missense 0.075 benign 0.06 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1173401777 17q12 17 35844962G> C null G R 177 177 missense 0.398 benign 0.12 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs760451686 17q12 17 35844965G> A null G S 178 178 missense 0.055 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs753799125 17q12 17 35844968G> A null G S 179 179 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1194886015 17q12 17 35844972A> G null Y C 180 180 missense 0.35 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1395938686 17q12 17 35844971T> C null Y H 180 180 missense 0.264 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1379894925 17q12 17 35844980G> A null D N 183 183 missense 0.01 benign 0.54 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1415234000 17q12 17 35844983C> T null R * 184 184 stop gained 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs752394270 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35844984G> A null R Q 184 184 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed rs777362123 17q12 17 35844990G> C null G A 186 186 missense 0.117 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) Ensembl rs1183298377 17q12 17 35844993G> A null G D 187 187 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed rs757585810 17q12 17 35844998G> A null G R 189 189 missense 0.932 probably damaging 0.27 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs781611311 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 35845008G> A null R Q 192 192 missense 0.82 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) 1000Genomes,gnomAD rs201536163 17q12 17 35845011G> T null G V 193 193 2.0E-4 missense 0.876 possibly damaging 0.16 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs746383433 17q12 17 35845017A> G null Y C 195 195 missense 0.723 possibly damaging 0.18 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs769805184 17q12 17 35845025A> G null K E 198 198 missense 0.281 benign 0.25 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,TOPMed,gnomAD rs769805184 17q12 17 35845025A> C null K Q 198 198 missense 0.571 possibly damaging 0.34 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1451355081 17q12 17 35845035G> A null G E 201 201 missense 0.466 possibly damaging 0.18 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs1189468986 17q12 17 35845038G> A null R K 202 202 missense 0.056 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1294871586 17q12 17 35846911A> G null D G 204 204 missense 0.99 probably damaging 0.04 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,gnomAD rs748370172 17q12 17 35846910G> A null D N 204 204 missense 0.99 probably damaging 1.0 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1194845891 17q12 17 35846922G> A null D N 208 208 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed,gnomAD rs948769080 17q12 17 35846928C> T null R C 210 210 missense 0.001 benign 0.05 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs776503828 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35846929G> A null R H 210 210 missense 0.003 benign 0.18 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1331208760 17q12 17 35846932A> G null N S 211 211 missense 0.351 benign 1.0 tolerated - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs376443844 17q12 17 35846934C> T null R * 212 212 stop gained 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ESP,ExAC,TOPMed,gnomAD rs376443844 17q12 17 35846934C> G null R G 212 212 missense 0.417 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) ExAC,NCI-TCGA,gnomAD rs769724066 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 35846935G> A null R Q 212 212 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) gnomAD rs1315157032 [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17q12 17 35846943T> C null * R 215 215 stop lost 0 A0A075B7F4 TAF15 TATA-binding protein-associated factor 2N (Fragment) TOPMed rs1280876662 17q12 17 35846944G> C null * S 215 215 missense 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs774916079 6q21 6 109659316A> G null I T 4 4 missense 0.907 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs772604537 6q21 6 109659314C> G null E Q 5 5 missense 0.892 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs746415310 6q21 6 109659310T> C null N S 6 6 missense 0.0 benign 0.95 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ESP,ExAC,TOPMed,gnomAD rs145535665 6q21 6 109659307T> C null H R 7 7 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs1288927383 6q21 6 109659304C> T null R K 8 8 missense 0.078 benign 0.17 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,TOPMed,gnomAD rs749469065 6q21 6 109659297C> A null K N 10 10 missense 0.714 possibly damaging 0.08 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,TOPMed,gnomAD rs749469065 6q21 6 109659297C> G null K N 10 10 missense 0.714 possibly damaging 0.08 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs777991774 6q21 6 109659293T> C null K E 12 12 missense 0.018 benign 0.19 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,TOPMed,gnomAD rs756376442 6q21 6 109659292T> C null K R 12 12 missense 0.011 benign 0.08 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,TOPMed,gnomAD rs756376442 6q21 6 109659292T> G null K T 12 12 missense 0.628 possibly damaging 0.01 deleterious - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141795794 6q21 6 109659286G> C null A G 14 14 missense 0.015 benign 0.1 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141795794 6q21 6 109659286G> A null A V 14 14 missense 0.001 benign 0.14 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ESP,ExAC,TOPMed,gnomAD rs201431516 6q21 6 109659284G> C null Q E 15 15 missense 0.08 benign 0.41 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ESP,ExAC,TOPMed,gnomAD rs201431516 6q21 6 109659284G> T null Q K 15 15 missense 0.058 benign 0.38 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1329551835 cosmic curated [Cosmic]: large_intestine cosmic_study:376 6q21 6 109659280T> C null K R 16 16 missense 0.191 benign 0.03 deleterious 1 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369829767 6q21 6 109659275C> A null G * 18 18 stop gained 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369829767 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q21 6 109659275C> T null G R 18 18 missense 0.003 benign 0.71 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1480902912 6q21 6 109659268C> T null G E 20 20 missense 0.013 benign 0.7 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed,gnomAD rs1294660269 6q21 6 109659266C> T null E K 21 21 missense 0.429 benign 0.04 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1429669115 6q21 6 109659262T> A null E V 22 22 missense 0.936 probably damaging 0.04 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs1383075131 6q21 6 109659260C> T null E K 23 23 missense 0.429 benign 0.15 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1468476580 6q21 6 109659259T> A null E V 23 23 missense 0.553 possibly damaging 0.14 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs753494329 6q21 6 109659249T> A null E D 26 26 missense 0.946 probably damaging 0.05 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1232299983 6q21 6 109659251C> G null E Q 26 26 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) Ensembl rs1562568442 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6q21 6 109659242G> C null Q E 29 29 missense 0.007 benign 1.0 tolerated 1 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1260831453 6q21 6 109659239C> G null E Q 30 30 missense 0.714 possibly damaging 0.42 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1323838557 6q21 6 109659233C> T null E K 32 32 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs943023951 6q21 6 109659229T> G null E A 33 33 missense 0.996 probably damaging 0.07 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs557974240 6q21 6 109656883G> T null A E 34 34 2.0E-4 missense 0.745 possibly damaging 0.29 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs757298277 6q21 6 109656884C> G null A P 34 34 missense 0.859 possibly damaging 0.02 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs765324802 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q21 6 109656872C> T null E K 38 38 missense 0.565 possibly damaging 0.05 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1225925259 6q21 6 109656860C> A null V L 42 42 missense 0.155 benign 0.14 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1225925259 6q21 6 109656860C> T null V M 42 42 missense 0.237 benign 0.31 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs755766282 6q21 6 109656857C> A null A S 43 43 missense 0.396 benign 0.48 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs755766282 6q21 6 109656857C> T null A T 43 43 missense 0.279 benign 0.21 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs752309615 6q21 6 109656847A> G null L P 46 46 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs767007079 6q21 6 109656844T> C null H R 47 47 missense 0.031 benign 0.2 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1451319673 6q21 6 109656815A> C null L V 57 57 missense 0.561 possibly damaging 0.12 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs759001364 6q21 6 109656809T> C null N D 59 59 missense 0.99 probably damaging 0.04 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1421380268 6q21 6 109656806C> T null V I 60 60 missense 0.076 benign 0.62 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) Ensembl rs1166671900 6q21 6 109656797T> C null I V 63 63 missense 0.018 benign 0.54 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1184360752 6q21 6 109656781T> C null K R 68 68 missense 0.421 benign 0.04 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) 1000Genomes,ExAC,gnomAD rs201240601 6q21 6 109656776T> C null T A 70 70 2.0E-4 missense 0.62 possibly damaging 0.22 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1242997212 6q21 6 109656775G> T null T K 70 70 missense 0.713 possibly damaging 0.44 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) 1000Genomes,ExAC,gnomAD rs544640376 6q21 6 109656773T> C null I V 71 71 3.99E-4 missense 0.029 benign 0.23 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140510249 6q21 6 109656764T> C null T A 74 74 3.99E-4 missense 0.031 benign 0.27 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140510249 6q21 6 109656764T> G null T P 74 74 3.99E-4 missense 0.01 benign 1.0 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs151265370 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q21 6 109644688C> T null E K 77 77 3.99E-4 missense 0.155 benign 0.08 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs924020641 6q21 6 109644678G> A null A V 80 80 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs777892546 6q21 6 109644672T> C null H R 82 82 missense 0.958 probably damaging 0.01 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed rs374549389 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6q21 6 109644673G> A null H Y 82 82 missense 0.982 probably damaging 0.0 deleterious 1 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs769812895 6q21 6 109644669T> C null N S 83 83 missense 0.09 benign 0.08 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs945579965 6q21 6 109644653A> C null I M 88 88 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1354729592 6q21 6 109644654A> G null I T 88 88 missense 0.958 probably damaging 0.0 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs1410238439 6q21 6 109644649G> C null L V 90 90 missense 0.664 possibly damaging 0.07 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ESP,TOPMed,gnomAD rs371994466 6q21 6 109644640T> C null N D 93 93 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,TOPMed,gnomAD rs747876029 6q21 6 109644639T> C null N S 93 93 missense 0.971 probably damaging 0.03 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs1465152725 6q21 6 109644634G> A null P S 95 95 missense 0.051 benign 0.33 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) Ensembl rs1403324525 6q21 6 109644628C> T null E K 97 97 missense 0.932 probably damaging 0.01 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs781100052 6q21 6 109644614C> T null M I 101 101 missense 0.089 benign 0.05 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1249121010 6q21 6 109644616T> A null M L 101 101 missense 0.006 benign 0.67 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) Ensembl rs1159065955 6q21 6 109644615A> G null M T 101 101 missense 0.006 benign 0.17 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1249121010 6q21 6 109644616T> C null M V 101 101 missense 0.017 benign 0.32 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1481030757 6q21 6 109644613C> T null V M 102 102 missense 0.062 benign 0.13 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs754583581 6q21 6 109644607C> A null A S 104 104 missense 0.011 benign 1.0 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs751218110 6q21 6 109644603A> G null V A 105 105 missense 0.854 possibly damaging 0.0 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1201947967 6q21 6 109644604C> A null V L 105 105 missense 0.086 benign 0.22 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1201947967 6q21 6 109644604C> T null V M 105 105 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs1403854430 6q21 6 109644591T> C null N S 109 109 missense 0.001 benign 0.43 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ESP,ExAC,gnomAD rs368665513 6q21 6 109644585G> A null S L 111 111 missense 0.039 benign 0.02 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,TOPMed,gnomAD rs765700390 6q21 6 109644579T> C null H R 113 113 missense 0.138 benign 0.21 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs1348471671 6q21 6 109644574T> C null K E 115 115 missense 0.497 possibly damaging 0.06 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) Ensembl rs980847555 6q21 6 109644570A> C null F C 116 116 missense 0.458 possibly damaging 0.02 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs1023610672 6q21 6 109644565A> G null S P 118 118 missense 0.196 benign 0.35 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,TOPMed,gnomAD rs754135997 6q21 6 109644562T> A null I F 119 119 missense 0.057 benign 0.01 deleterious 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,TOPMed,gnomAD rs754135997 6q21 6 109644562T> C null I V 119 119 missense 0.0 benign 0.54 tolerated 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs764583653 6q21 6 109644558T> G null D A 120 120 missense 0.935 probably damaging 0.05 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) Ensembl rs1562540259 6q21 6 109644554A> C null S R 121 121 missense 0.196 benign 0.05 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1362547624 6q21 6 109644552A> G null I T 122 122 missense 0.024 benign 0.06 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1467955660 6q21 6 109644553T> C null I V 122 122 missense 0.005 benign 0.92 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,TOPMed,gnomAD rs772241820 6q21 6 109644550C> T null V I 123 123 missense 0.0 benign 0.66 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,TOPMed,gnomAD rs772241820 6q21 6 109644550C> A null V L 123 123 missense 0.0 benign 0.6 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs576614805 6q21 6 109644547G> C null L V 124 124 2.0E-4 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1181827515 6q21 6 109644537A> T null I K 127 127 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1240036611 6q21 6 109644538T> A null I L 127 127 missense 0.0 unknown 0.42 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1181827515 6q21 6 109644537A> G null I T 127 127 missense 0.0 unknown 0.6 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs769606662 6q21 6 109644531C> T null R K 129 129 missense 0.146 benign 0.44 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs769606662 6q21 6 109644531C> G null R T 129 129 missense 0.412 benign 0.21 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) Ensembl rs970299904 6q21 6 109644528C> T null S N 130 130 missense 0.057 benign 0.09 tolerated - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) gnomAD rs1167398685 6q21 6 109644524T> C null I M 131 131 missense 0.057 benign 0.04 deleterious - low confidence 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs1484276041 6q21 6 109644517A> C null F V 134 134 missense 0.001 benign 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs958615415 6q21 6 109644513T> C null E G 135 135 missense 0.195 benign 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs748184466 6q21 6 109644514C> T null E K 135 135 missense 0.007 benign 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs1431980828 6q21 6 109644510T> A null H L 136 136 missense 0.0 benign 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) TOPMed rs1267318970 6q21 6 109644511G> A null H Y 136 136 missense 0.0 benign 0 A0A075B7F5 AK9 Adenylate kinase 9 (Fragment) ExAC,gnomAD rs780784577 6q21 6 109644507T> A null H L 137 137 missense 0.0 benign 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1203186927 1q21.2 1 148595711C> T null V I 3 3 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1203186927 1q21.2 1 148595711C> A null V L 3 3 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1254058776 1q21.2 1 148595704G> T null A D 5 5 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1476891722 1q21.2 1 148595702C> A null G C 6 6 missense 0.931 probably damaging 0.03 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1476891722 1q21.2 1 148595702C> T null G S 6 6 missense 0.05 benign 0.28 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1375605580 1q21.2 1 148595695C> G null W S 8 8 missense 0.353 benign 0.24 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1305695072 1q21.2 1 148595688A> C null S R 10 10 missense 0.8 possibly damaging 0.29 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1392509395 1q21.2 1 148595678C> T null E K 14 14 missense 0.492 possibly damaging 0.03 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1304615342 1q21.2 1 148595655G> C null N K 21 21 missense 0.08 benign 0.06 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1341787082 1q21.2 1 148595650G> T null T K 23 23 missense 0.0 benign 0.82 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1276915561 1q21.2 1 148595645G> A null R C 25 25 missense 0.012 benign 0.17 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1196334786 1q21.2 1 148595644C> T null R H 25 25 missense 0.012 benign 0.14 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1196334786 1q21.2 1 148595644C> A null R L 25 25 missense 0.293 benign 0.1 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1448541941 1q21.2 1 148595625C> G null K N 31 31 missense 0.003 benign 0.46 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1166287906 1q21.2 1 148595620T> A null Q L 33 33 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1374317401 1q21.2 1 148595617T> G null Q P 34 34 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1293462207 1q21.2 1 148595608T> C null N S 37 37 missense 0.015 benign 0.05 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1389287966 1q21.2 1 148595603T> C null K E 39 39 missense 0.125 benign 0.03 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1389016688 1q21.2 1 148595599T> G null E A 40 40 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1226507539 1q21.2 1 148595590A> G null F S 43 43 missense 0.561 possibly damaging 0.0 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1300039745 1q21.2 1 148595584G> T null T N 45 45 missense 0.898 possibly damaging 0.02 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1244074466 1q21.2 1 148595581T> G null Q P 46 46 missense 0.877 possibly damaging 0.0 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1263755885 1q21.2 1 148595576C> A null A S 48 48 missense 0.839 possibly damaging 0.07 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1253427207 1q21.2 1 148595573C> T null G S 49 49 missense 0.84 possibly damaging 0.23 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1263313961 1q21.2 1 148595559G> T null N K 53 53 missense 0.007 benign 0.22 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1464231702 1q21.2 1 148595560T> C null N S 53 53 missense 0.023 benign 0.02 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1428739885 1q21.2 1 148595557T> C null Q R 54 54 missense 0.001 benign 0.24 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1366175628 1q21.2 1 148595550C> G null K N 56 56 missense 0.001 benign 0.55 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1463516075 1q21.2 1 148595548T> C null K R 57 57 missense 0.729 possibly damaging 0.05 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1388398442 1q21.2 1 148595543T> C null K E 59 59 missense 0.007 benign 0.08 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1338380901 1q21.2 1 148593699C> G null K N 59 59 missense 0.007 benign 0.09 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1265522963 1q21.2 1 148593696A> T null Y * 60 60 stop gained 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1246489846 1q21.2 1 148593698A> C null Y D 60 60 missense 0.197 benign 0.2 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1425803058 1q21.2 1 148593662T> C null R G 72 72 missense 0.614 possibly damaging 0.37 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1425803058 1q21.2 1 148593662T> A null R W 72 72 missense 0.96 probably damaging 0.02 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1379772630 1q21.2 1 148593657A> T null N K 73 73 missense 0.995 probably damaging 0.08 tolerated 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1188439575 1q21.2 1 148593658T> C null N S 73 73 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1418015714 1q21.2 1 148593653G> A null R * 75 75 stop gained 0 A0A075B7F7 NBPF14 Neuroblastoma breakpoint family member 14 (Fragment) TOPMed rs1160522866 1q21.2 1 148593652C> T null R Q 75 75 missense 0.462 possibly damaging 0.08 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271358 1p11.2 1 120813930G> A null R K 3 3 missense 0.525 possibly damaging 0.11 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1289016854 1p11.2 1 120813929A> T null R W 3 3 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1382796134 1p11.2 1 120813935G> A null E K 5 5 missense 0.444 benign 0.12 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271364 1p11.2 1 120813938C> T null R * 6 6 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271364 1p11.2 1 120813938C> G null R G 6 6 missense 0.768 possibly damaging 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271366 1p11.2 1 120813939G> A null R Q 6 6 missense 0.661 possibly damaging 0.1 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271370 1p11.2 1 120813943G> C null Q H 7 7 missense 0.66 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271370 1p11.2 1 120813943G> T null Q H 7 7 missense 0.66 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271372 1p11.2 1 120813944T> C null F L 8 8 missense 0.013 benign 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1317068893 1p11.2 1 120813954A> C null E A 11 11 missense 0.352 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271375 1p11.2 1 120813953G> A null E K 11 11 missense 0.689 possibly damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1225156162 1p11.2 1 120813956A> C null K Q 12 12 missense 0.835 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1325574494 1p11.2 1 120813960T> C null L P 13 13 missense 0.748 possibly damaging 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271377 1p11.2 1 120813962G> A null A T 14 14 missense 0.049 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271378 1p11.2 1 120813963C> T null A V 14 14 missense 0.359 benign 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271379 1p11.2 1 120813965G> C null E Q 15 15 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271380 1p11.2 1 120813968C> T null Q * 16 16 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271380 1p11.2 1 120813968C> G null Q E 16 16 missense 0.006 benign 0.11 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1474722118 1p11.2 1 120813974A> G null K E 18 18 missense 0.121 benign 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271384 1p11.2 1 120813975A> C null K T 18 18 missense 0.288 benign 0.24 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1217539906 1p11.2 1 120814832A> C null Q H 25 25 missense 0.655 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271514 1p11.2 1 120814837A> G null K R 27 27 missense 0.979 probably damaging 0.08 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1293977312 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p11.2 1 120814839G> T null V F 28 28 missense 0.991 probably damaging 0.08 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1330388090 1p11.2 1 120814845G> C null V L 30 30 missense 0.049 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1432026115 1p11.2 1 120814852C> A null A D 32 32 missense 0.085 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1432026115 1p11.2 1 120814852C> G null A G 32 32 missense 0.085 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1425311825 1p11.2 1 120814851G> T null A S 32 32 missense 0.006 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1425311825 1p11.2 1 120814851G> A null A T 32 32 missense 0.014 benign 0.09 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1432026115 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p11.2 1 120814852C> T null A V 32 32 missense 0.085 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1479310334 1p11.2 1 120814859A> T null E D 34 34 missense 0.269 benign 0.32 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1236930375 1p11.2 1 120814860C> T null R * 35 35 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271529 1p11.2 1 120814861G> A null R Q 35 35 missense 0.374 benign 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1208294567 1p11.2 1 120814872C> T null Q * 39 39 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1302108700 1p11.2 1 120814879G> A null R K 41 41 missense 0.0 benign 0.24 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1374541402 1p11.2 1 120814886G> T null K N 43 43 missense 0.019 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1221054179 1p11.2 1 120814884A> C null K Q 43 43 missense 0.359 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1308517896 1p11.2 1 120814887T> G null L V 44 44 missense 0.225 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271550 1p11.2 1 120814891G> A null R Q 45 45 missense 0.009 benign 0.23 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271544 1p11.2 1 120814890C> T null R W 45 45 missense 0.007 benign 0.17 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271554 1p11.2 1 120814893G> A null E K 46 46 missense 0.359 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1177571162 1p11.2 1 120814903A> T null D V 49 49 missense 0.361 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1398503767 1p11.2 1 120814906C> T null A V 50 50 missense 0.599 possibly damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1378992492 1p11.2 1 120814909C> T null S F 51 51 missense 0.003 benign 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271556 1p11.2 1 120814911C> T null R C 52 52 missense 0.731 possibly damaging 0.18 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271558 1p11.2 1 120814912G> A null R H 52 52 missense 0.42 benign 0.43 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271558 1p11.2 1 120814912G> T null R L 52 52 missense 0.006 benign 0.53 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1256861322 1p11.2 1 120814918T> G null L W 54 54 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1212317393 1p11.2 1 120814935G> A null A T 60 60 missense 0.542 possibly damaging 0.15 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1351686805 1p11.2 1 120814939T> C null L P 61 61 missense 0.858 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1240806361 1p11.2 1 120814945C> T null T I 63 63 missense 0.731 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1240806361 1p11.2 1 120814945C> A null T N 63 63 missense 0.306 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271564 1p11.2 1 120814948C> T null P L 64 64 missense 0.003 benign 0.14 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1379420910 1p11.2 1 120814953G> T null E * 66 66 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271568 1p11.2 1 120814957C> T null P L 67 67 missense 0.011 benign 0.18 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1359360785 1p11.2 1 120814963A> C null K T 69 69 missense 0.546 possibly damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1158517965 1p11.2 1 120814965T> A null S T 70 70 missense 0.21 benign 0.08 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1420866300 1p11.2 1 120814971G> A null G R 72 72 missense 0.015 benign 0.28 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1382743504 1p11.2 1 120814977G> A null D N 74 74 missense 0.616 possibly damaging 0.09 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1163096005 1p11.2 1 120814983C> A null Q K 76 76 missense 0.121 benign 0.07 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1257117336 1p11.2 1 120815011T> C null L P 85 85 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1487316943 1p11.2 1 120815021C> A null H Q 88 88 missense 0.061 benign 0.39 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271573 1p11.2 1 120815033G> T null K N 92 92 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1262597282 1p11.2 1 120815032A> G null K R 92 92 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1355732828 1p11.2 1 120815034C> T null L F 93 93 missense 0.202 benign 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1355732828 1p11.2 1 120815034C> G null L V 93 93 missense 0.825 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271707 1p11.2 1 120816095C> G null N K 99 99 missense 0.186 benign 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271706 1p11.2 1 120816094A> G null N S 99 99 missense 0.076 benign 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271708 1p11.2 1 120816096G> C null D H 100 100 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271712 1p11.2 1 120816102G> A null D N 102 102 missense 0.592 possibly damaging 0.14 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271719 1p11.2 1 120816109A> G null D G 104 104 missense 0.697 possibly damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271721 1p11.2 1 120816124T> G null V G 109 109 missense 0.08 benign 0.18 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1362497927 1p11.2 1 120816134A> T null K N 112 112 missense 0.882 possibly damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1434020130 1p11.2 1 120816136T> C null V A 113 113 missense 0.425 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271725 1p11.2 1 120816135G> A null V M 113 113 missense 0.898 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271731 1p11.2 1 120816145C> T null S L 116 116 missense 0.984 probably damaging 0.18 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1442603285 1p11.2 1 120816147T> C null S P 117 117 missense 0.03 benign 0.3 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271734 1p11.2 1 120816150G> C null A P 118 118 missense 0.931 probably damaging 0.13 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1169067727 1p11.2 1 120816151C> T null A V 118 118 missense 0.122 benign 0.15 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271771 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p11.2 1 120816625G> C null E D 121 121 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271771 1p11.2 1 120816625G> T null E D 121 121 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1335425480 1p11.2 1 120816623G> A null E K 121 121 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271773 1p11.2 1 120816626A> C null M L 122 122 missense 0.0 benign 0.39 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1312264358 1p11.2 1 120816627T> G null M R 122 122 missense 0.395 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271774 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1p11.2 1 120816629C> T null Q * 123 123 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271775 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p11.2 1 120816630A> C null Q P 123 123 missense 0.005 benign 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271778 1p11.2 1 120816634G> T null K N 124 124 missense 0.205 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1183629271 1p11.2 1 120816641G> T null E * 127 127 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271781 1p11.2 1 120816647G> A null E K 129 129 missense 0.997 probably damaging 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1187927117 1p11.2 1 120816650G> A null V I 130 130 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1187927117 1p11.2 1 120816650G> C null V L 130 130 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1281114603 1p11.2 1 120816653C> G null P A 131 131 missense 0.535 possibly damaging 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1281114603 1p11.2 1 120816653C> T null P S 131 131 missense 0.708 possibly damaging 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1261609027 1p11.2 1 120816669A> C null E A 136 136 missense 0.615 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1230291545 1p11.2 1 120816675G> A null C Y 138 138 missense 0.174 benign 0.11 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1353700073 1p11.2 1 120816677G> A null A T 139 139 missense 0.855 possibly damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271786 1p11.2 1 120816680A> T null I F 140 140 missense 0.852 possibly damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271786 1p11.2 1 120816680A> G null I V 140 140 missense 0.042 benign 0.85 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1315891466 1p11.2 1 120816687G> A null C Y 142 142 missense 0.003 benign 0.13 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1385217785 1p11.2 1 120816694T> A null N K 144 144 missense 0.268 benign 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1399900446 1p11.2 1 120816692A> T null N Y 144 144 missense 0.782 possibly damaging 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271788 1p11.2 1 120816696G> T null S I 145 145 missense 0.433 benign 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271788 1p11.2 1 120816696G> C null S T 145 145 missense 0.333 benign 0.13 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271792 1p11.2 1 120816698C> G null H D 146 146 missense 0.268 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1188081327 1p11.2 1 120816704C> G null P A 148 148 missense 0.248 benign 0.09 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1188081327 1p11.2 1 120816704C> T null P S 148 148 missense 0.042 benign 0.25 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1239734533 1p11.2 1 120816714G> C null C S 151 151 missense 0.001 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1239734533 1p11.2 1 120816714G> A null C Y 151 151 missense 0.405 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1446846036 1p11.2 1 120816718C> G null N K 152 152 missense 0.535 possibly damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1248861301 1p11.2 1 120816723C> A null P Q 154 154 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1210867814 1p11.2 1 120816726A> G null H R 155 155 missense 0.614 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271795 1p11.2 1 120816729G> C null R T 156 156 missense 0.373 benign 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1358296514 1p11.2 1 120816739A> T null K N 159 159 missense 0.767 possibly damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1268412433 1p11.2 1 120816743A> G null T A 161 161 missense 0.006 benign 0.14 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1268412433 1p11.2 1 120816743A> T null T S 161 161 missense 0.012 benign 0.11 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271801 1p11.2 1 120816749G> A null E K 163 163 missense 0.031 benign 0.11 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271805 1p11.2 1 120816764G> A null D N 168 168 missense 0.922 probably damaging 0.2 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1393301001 1p11.2 1 120816770A> G null T A 170 170 missense 0.013 benign 0.66 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1393301001 1p11.2 1 120816770A> T null T S 170 170 missense 0.087 benign 0.21 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271806 1p11.2 1 120816771C> G null T S 170 170 missense 0.087 benign 0.21 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1416578780 1p11.2 1 120816776A> T null I F 172 172 missense 0.721 possibly damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1166714202 1p11.2 1 120816778T> G null I M 172 172 missense 0.865 possibly damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1391129354 1p11.2 1 120816780G> C null G A 173 173 missense 0.729 possibly damaging 0.17 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271810 1p11.2 1 120816792A> G null H R 177 177 missense 0.312 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271813 1p11.2 1 120816794G> T null V F 178 178 missense 0.863 possibly damaging 0.69 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271813 1p11.2 1 120816794G> A null V I 178 178 missense 0.548 possibly damaging 0.39 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271816 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1p11.2 1 120816802G> A null W * 180 180 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271818 1p11.2 1 120816810C> A null A D 183 183 missense 0.966 probably damaging 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271818 1p11.2 1 120816810C> T null A V 183 183 missense 0.968 probably damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1213954797 1p11.2 1 120816813T> C null V A 184 184 missense 0.839 possibly damaging 0.19 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553271820 1p11.2 1 120816818A> T null I F 186 186 missense 0.964 probably damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1299478945 1p11.2 1 120816824C> A null P T 188 188 missense 0.734 possibly damaging 0.08 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1433317116 1p11.2 1 120818143G> T null E * 196 196 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1268632096 1p11.2 1 120818144A> C null E A 196 196 missense 0.406 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1202175014 1p11.2 1 120818152G> T null E * 199 199 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1482374193 1p11.2 1 120818156A> C null K T 200 200 missense 0.535 possibly damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1206325740 1p11.2 1 120818161C> G null P A 202 202 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1206325740 1p11.2 1 120818161C> T null P S 202 202 missense 0.992 probably damaging 0.05 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1206325740 1p11.2 1 120818161C> A null P T 202 202 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1285305329 1p11.2 1 120818168C> G null S C 204 204 missense 0.007 benign 0.34 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1312886679 1p11.2 1 120818167T> C null S P 204 204 missense 0.844 possibly damaging 0.44 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1407866421 1p11.2 1 120818171C> T null P L 205 205 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1208981292 1p11.2 1 120822107T> G null N K 207 207 missense 0.017 benign 0.36 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1312468019 1p11.2 1 120822109T> C null L P 208 208 missense 0.998 probably damaging 0.08 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 Ensembl rs1557991532 1p11.2 1 120822116G> C null E D 210 210 missense 0.02 benign 0.17 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1237376806 1p11.2 1 120822118C> T null S F 211 211 missense 0.637 possibly damaging 0.18 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1304965010 1p11.2 1 120822117T> C null S P 211 211 missense 0.596 possibly damaging 0.26 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1376332988 1p11.2 1 120822136C> T null P L 217 217 missense 0.044 benign 0.36 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272093 1p11.2 1 120822139A> G null Q R 218 218 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1437849394 1p11.2 1 120822142A> G null E G 219 219 missense 0.356 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1379779050 1p11.2 1 120822145C> A null S Y 220 220 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272095 1p11.2 1 120822149G> A null W * 221 221 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1253801089 1p11.2 1 120822157G> A null G D 224 224 missense 0.892 possibly damaging 0.24 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272098 1p11.2 1 120822160A> G null Y C 225 225 missense 0.999 probably damaging 0.05 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272100 1p11.2 1 120822163C> A null S * 226 226 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272100 1p11.2 1 120822163C> T null S L 226 226 missense 0.038 benign 0.74 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1352266118 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p11.2 1 120822165A> G null T A 227 227 missense 0.995 probably damaging 0.05 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272102 1p11.2 1 120822171T> C null S P 229 229 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272104 1p11.2 1 120822177C> T null P S 231 231 missense 0.087 benign 0.4 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1338109804 1p11.2 1 120822181C> T null P L 232 232 missense 0.012 benign 0.71 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1310985064 1p11.2 1 120822184A> C null E A 233 233 missense 0.954 probably damaging 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272108 1p11.2 1 120822188G> A null M I 234 234 missense 0.01 benign 0.16 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1395766177 1p11.2 1 120822186A> T null M L 234 234 missense 0.003 benign 0.6 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1418103463 1p11.2 1 120822191A> T null L F 235 235 missense 0.782 possibly damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1159277287 1p11.2 1 120822192G> A null A T 236 236 missense 0.709 possibly damaging 0.53 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272122 1p11.2 1 120822193C> T null A V 236 236 missense 0.824 possibly damaging 0.1 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1164038192 1p11.2 1 120822200C> A null Y * 238 238 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1475385043 1p11.2 1 120822203G> C null K N 239 239 missense 0.098 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1259372660 1p11.2 1 120822205C> G null S C 240 240 missense 0.818 possibly damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1190975104 1p11.2 1 120822210A> G null S G 242 242 missense 0.003 benign 0.28 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1487798819 1p11.2 1 120822217C> T null T I 244 244 missense 0.109 benign 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272128 1p11.2 1 120822237C> G null Q E 251 251 missense 0.281 benign 0.18 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272130 1p11.2 1 120822242A> C null Q H 252 252 missense 0.011 benign 0.38 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1264150813 1p11.2 1 120822244T> A null V D 253 253 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 Ensembl rs1557991585 1p11.2 1 120822249A> G null M V 255 255 missense 0.096 benign 0.19 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1335824522 1p11.2 1 120822255G> C null V L 257 257 missense 0.007 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1398366546 1p11.2 1 120822260C> A null D E 258 258 missense 0.747 possibly damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1295570899 1p11.2 1 120822258G> T null D Y 258 258 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272134 1p11.2 1 120822261A> G null I V 259 259 missense 0.02 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1297765050 1p11.2 1 120823310A> T null R S 261 261 missense 0.64 possibly damaging 0.18 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272238 1p11.2 1 120823311C> A null H N 262 262 missense 0.236 benign 0.53 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272238 1p11.2 1 120823311C> T null H Y 262 262 missense 0.491 possibly damaging 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272240 1p11.2 1 120823314C> G null R G 263 263 missense 0.711 possibly damaging 0.15 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272241 1p11.2 1 120823315G> C null R P 263 263 missense 0.879 possibly damaging 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272241 1p11.2 1 120823315G> A null R Q 263 263 missense 0.073 benign 0.19 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272240 1p11.2 1 120823314C> T null R W 263 263 missense 0.978 probably damaging 0.16 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272242 1p11.2 1 120823318G> A null W * 264 264 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272244 1p11.2 1 120823319G> C null W C 264 264 missense 0.007 benign 0.23 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272246 1p11.2 1 120823320G> A null D N 265 265 missense 0.06 benign 0.21 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272248 1p11.2 1 120823330A> T null K I 268 268 missense 0.283 benign 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1485731467 1p11.2 1 120823333A> G null K R 269 269 missense 0.358 benign 0.2 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272250 1p11.2 1 120823339A> T null D V 271 271 missense 0.62 possibly damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1236086562 1p11.2 1 120823343C> A null H Q 272 272 missense 0.003 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272251 1p11.2 1 120823344G> C null E Q 273 273 missense 0.912 probably damaging 0.19 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272254 1p11.2 1 120823347G> A null A T 274 274 missense 0.333 benign 0.51 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272255 1p11.2 1 120823353G> A null G S 276 276 missense 0.036 benign 0.71 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272256 1p11.2 1 120823357C> A null P H 277 277 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272256 1p11.2 1 120823357C> T null P L 277 277 missense 0.951 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272401 1p11.2 1 120823980C> A null S R 280 280 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1356035821 1p11.2 1 120823981A> G null R G 281 281 missense 0.991 probably damaging 0.15 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1250483069 1p11.2 1 120823996G> T null E * 286 286 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1481218468 1p11.2 1 120823998G> C null E D 286 286 missense 0.851 possibly damaging 0.54 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1250483069 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p11.2 1 120823996G> A null E K 286 286 missense 0.795 possibly damaging 0.56 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272410 1p11.2 1 120824003G> A null G E 288 288 missense 0.108 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272410 1p11.2 1 120824003G> T null G V 288 288 missense 0.936 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1263979766 1p11.2 1 120824016G> T null L F 292 292 missense 0.997 probably damaging 0.14 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1225655349 1p11.2 1 120824018A> G null Q R 293 293 missense 0.974 probably damaging 0.14 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272418 1p11.2 1 120824022C> G null D E 294 294 missense 0.994 probably damaging 0.35 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272415 1p11.2 1 120824020G> A null D N 294 294 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272420 1p11.2 1 120824023T> A null S T 295 295 missense 0.981 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1301017830 1p11.2 1 120824029G> T null D Y 297 297 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272423 1p11.2 1 120824033G> A null R K 298 298 missense 0.97 probably damaging 0.23 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1178135092 1p11.2 1 120824034A> T null R S 298 298 missense 0.988 probably damaging 0.08 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272423 1p11.2 1 120824033G> C null R T 298 298 missense 0.988 probably damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272428 1p11.2 1 120824036G> A null C Y 299 299 missense 0.861 possibly damaging 0.12 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272430 1p11.2 1 120824040T> G null Y * 300 300 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1253219488 1p11.2 1 120824045C> A null T N 302 302 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1253219488 1p11.2 1 120824045C> G null T S 302 302 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272440 1p11.2 1 120824048C> T null P L 303 303 missense 0.998 probably damaging 0.16 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272443 1p11.2 1 120824054G> A null G D 305 305 missense 0.967 probably damaging 0.63 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272444 1p11.2 1 120824057G> C null C S 306 306 missense 0.547 possibly damaging 0.37 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272444 1p11.2 1 120824057G> A null C Y 306 306 missense 0.013 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272449 1p11.2 1 120824065C> A null L M 309 309 missense 0.958 probably damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272450 1p11.2 1 120824066T> A null L Q 309 309 missense 0.136 benign 0.07 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1383232503 1p11.2 1 120824068A> C null T P 310 310 missense 0.047 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1383232503 1p11.2 1 120824068A> T null T S 310 310 missense 0.679 possibly damaging 0.67 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272453 1p11.2 1 120824073C> A null D E 311 311 missense 0.994 probably damaging 0.07 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272459 1p11.2 1 120824074T> A null S T 312 312 missense 0.798 possibly damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1289105513 1p11.2 1 120824081A> C null Q P 314 314 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272461 1p11.2 1 120824084C> A null P H 315 315 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272464 1p11.2 1 120824086T> C null Y H 316 316 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1386432877 1p11.2 1 120824095G> T null A S 319 319 missense 0.228 benign 0.16 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1386432877 1p11.2 1 120824095G> A null A T 319 319 missense 0.672 possibly damaging 0.56 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272466 1p11.2 1 120824096C> T null A V 319 319 missense 0.858 possibly damaging 0.14 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1486886443 1p11.2 1 120824104G> A null V I 322 322 missense 0.003 benign 0.43 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272479 1p11.2 1 120824110G> C null E Q 324 324 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1220958797 1p11.2 1 120824116C> G null Q E 326 326 missense 0.241 benign 0.13 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1360018821 1p11.2 1 120824118G> C null Q H 326 326 missense 0.916 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1225831201 1p11.2 1 120824119C> T null R C 327 327 missense 0.009 benign 0.08 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272481 1p11.2 1 120824120G> A null R H 327 327 missense 0.009 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272481 1p11.2 1 120824120G> T null R L 327 327 missense 0.267 benign 0.48 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272483 1p11.2 1 120824122G> T null V F 328 328 missense 0.517 possibly damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272487 1p11.2 1 120824128T> A null L M 330 330 missense 0.904 possibly damaging 0.05 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1424777378 1p11.2 1 120824131G> A null A T 331 331 missense 0.672 possibly damaging 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272491 1p11.2 1 120824134G> C null V L 332 332 missense 0.006 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1372932334 1p11.2 1 120824138A> C null D A 333 333 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272495 1p11.2 1 120824137G> C null D H 333 333 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272495 1p11.2 1 120824137G> A null D N 333 333 missense 0.996 probably damaging 0.07 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272503 1p11.2 1 120824142G> A null M I 334 334 missense 0.077 benign 0.15 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553272499 1p11.2 1 120824141T> C null M T 334 334 missense 0.399 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 Ensembl rs1557992339 1p11.2 1 120824880C> A null Q K 341 341 missense 0.01 benign 0.1 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1481147547 1p11.2 1 120824883G> A null E K 342 342 missense 0.035 benign 0.16 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1202198771 1p11.2 1 120824914C> A null P H 352 352 missense 0.198 benign 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1295346817 1p11.2 1 120830418T> C null L P 354 354 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1367635820 1p11.2 1 120830422C> G null S R 355 355 missense 0.903 possibly damaging 0.11 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1395088507 1p11.2 1 120830428G> C null E D 357 357 missense 0.908 possibly damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1440349383 1p11.2 1 120830426G> A null E K 357 357 missense 0.908 possibly damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1353668546 1p11.2 1 120830445A> G null E G 363 363 missense 0.02 benign 0.11 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1450886757 1p11.2 1 120830460A> G null Q R 368 368 missense 0.92 probably damaging 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1392946512 1p11.2 1 120830462G> T null D Y 369 369 missense 0.32 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1192465792 1p11.2 1 120830465T> A null S T 370 370 missense 0.155 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1454369960 1p11.2 1 120830477T> C null C R 374 374 missense 0.955 probably damaging 0.12 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1268864713 1p11.2 1 120830484C> T null S L 376 376 missense 0.224 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1479945340 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p11.2 1 120830493C> T null S L 379 379 missense 0.754 possibly damaging 0.08 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1251051065 1p11.2 1 120830496G> T null G V 380 380 missense 0.775 possibly damaging 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1344577234 1p11.2 1 120830576C> G null L V 407 407 missense 0.914 probably damaging 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1233630642 1p11.2 1 120830582G> A null V M 409 409 missense 0.998 probably damaging 0.2 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1274963020 1p11.2 1 120832011T> C null V A 436 436 missense 0.026 benign 0.38 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1437753797 1p11.2 1 120832014T> C null V A 437 437 missense 0.986 probably damaging 0.27 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1333384815 1p11.2 1 120832095A> T null Q L 464 464 missense 0.007 benign 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1476983482 1p11.2 1 120832881A> T null E V 488 488 missense 0.996 probably damaging 0.48 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1199284540 1p11.2 1 120832884A> G null K R 489 489 missense 0.992 probably damaging 0.12 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1203947504 1p11.2 1 120832889G> C null G R 491 491 missense 1.0 probably damaging 0.44 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1203947504 1p11.2 1 120832889G> A null G R 491 491 missense 1.0 probably damaging 0.44 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1347735196 1p11.2 1 120832907A> G null R G 497 497 missense 0.991 probably damaging 0.47 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1306591462 1p11.2 1 120832917G> C null R T 500 500 missense 0.991 probably damaging 0.55 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1409417168 1p11.2 1 120832920C> G null S * 501 501 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1371445955 1p11.2 1 120832928G> A null E K 504 504 missense 0.452 possibly damaging 0.46 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1173021914 1p11.2 1 120832940G> A null G R 508 508 missense 1.0 probably damaging 0.15 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1409426957 1p11.2 1 120832947A> T null K I 510 510 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1483159091 1p11.2 1 120832960A> T null E D 514 514 missense 0.992 probably damaging 0.23 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1181243640 1p11.2 1 120832959A> G null E G 514 514 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1253608751 1p11.2 1 120832961G> A null D N 515 515 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1253608751 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p11.2 1 120832961G> T null D Y 515 515 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1201483238 1p11.2 1 120832968A> C null N T 517 517 missense 0.155 benign 0.09 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1228238056 1p11.2 1 120832971C> T null P L 518 518 missense 0.984 probably damaging 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1326341887 1p11.2 1 120832970C> T null P S 518 518 missense 0.984 probably damaging 0.19 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1326341887 1p11.2 1 120832970C> A null P T 518 518 missense 0.984 probably damaging 0.05 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1351327471 1p11.2 1 120832974C> A null P Q 519 519 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1281430488 1p11.2 1 120832979C> T null P S 521 521 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1446096929 1p11.2 1 120832982A> G null R G 522 522 missense 0.29 benign 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1337231767 1p11.2 1 120833610A> G null R G 525 525 missense 0.958 probably damaging 0.31 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1158166114 1p11.2 1 120833632G> A null G E 532 532 missense 0.365 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1386119344 1p11.2 1 120833631G> T null G W 532 532 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1409783781 1p11.2 1 120833645G> C null L F 536 536 missense 0.708 possibly damaging 0.17 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1161112248 1p11.2 1 120833649G> C null D H 538 538 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1472139850 1p11.2 1 120833652T> A null S T 539 539 missense 0.986 probably damaging 0.07 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1243254744 1p11.2 1 120833655C> G null L V 540 540 missense 0.992 probably damaging 0.12 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1184704688 1p11.2 1 120833663A> C null R S 542 542 missense 0.958 probably damaging 0.09 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1226822497 1p11.2 1 120833683G> C null G A 549 549 missense 0.97 probably damaging 0.83 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1286531232 1p11.2 1 120833682G> A null G S 549 549 missense 0.99 probably damaging 0.85 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1226822497 1p11.2 1 120833683G> T null G V 549 549 missense 0.832 possibly damaging 0.4 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1315847222 1p11.2 1 120833685T> G null C G 550 550 missense 0.3 benign 0.32 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1362992615 1p11.2 1 120833691G> C null E Q 552 552 missense 0.378 benign 0.17 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1288067575 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p11.2 1 120833697A> T null T S 554 554 missense 0.113 benign 0.77 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1431124081 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p11.2 1 120833698C> G null T S 554 554 missense 0.113 benign 0.77 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1321130393 1p11.2 1 120833718A> G null R G 561 561 missense 0.541 possibly damaging 0.16 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1385293153 1p11.2 1 120833724G> A null A T 563 563 missense 0.619 possibly damaging 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1164982492 1p11.2 1 120833731A> C null Y S 565 565 missense 0.706 possibly damaging 0.26 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1388920658 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1p11.2 1 120833733A> G null I V 566 566 missense 0.001 benign 0.66 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1186457332 1p11.2 1 120833751G> A null V I 572 572 missense 0.661 possibly damaging 0.27 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1486357187 1p11.2 1 120833766G> A null D N 577 577 missense 0.681 possibly damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1244223162 1p11.2 1 120833767A> T null D V 577 577 missense 0.697 possibly damaging 0.17 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1347446735 1p11.2 1 120837176A> G null R G 675 675 missense 0.352 benign 0.11 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1343219896 1p11.2 1 120838052A> C null R S 730 730 missense 0.101 benign 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273220 1p11.2 1 120838768T> C null V A 755 755 missense 0.005 benign 0.29 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1302677701 1p11.2 1 120838771T> C null V A 756 756 missense 0.171 benign 0.17 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273222 1p11.2 1 120838789A> G null Q R 762 762 missense 0.45 possibly damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273224 1p11.2 1 120838850C> G null C W 782 782 missense 0.973 probably damaging 0.18 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273226 1p11.2 1 120838852A> T null Q L 783 783 missense 0.017 benign 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1461260007 1p11.2 1 120838854C> G null P A 784 784 missense 0.729 possibly damaging 0.12 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs200975235 1p11.2 1 120838884G> A null E K 794 794 missense 0.437 benign 0.07 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273233 1p11.2 1 120838889A> C null K N 795 795 missense 0.012 benign 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273255 1p11.2 1 120839659A> T null K I 814 814 missense 0.051 benign 0.08 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1390797238 1p11.2 1 120839662G> C null R T 815 815 missense 0.835 possibly damaging 0.09 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1333195375 1p11.2 1 120839684G> T null K N 822 822 missense 0.885 possibly damaging 0.14 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1400717246 1p11.2 1 120839683A> G null K R 822 822 missense 0.885 possibly damaging 0.16 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1428089919 1p11.2 1 120839687A> C null E D 823 823 missense 0.333 benign 0.71 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273258 1p11.2 1 120839685G> A null E K 823 823 missense 0.009 benign 0.79 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1172801659 1p11.2 1 120839709G> A null G R 831 831 missense 0.948 probably damaging 0.2 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273404 1p11.2 1 120840354A> G null N D 843 843 missense 0.209 benign 0.11 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 Ensembl rs199504638 1p11.2 1 120840355A> G null N S 843 843 missense 0.009 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273410 1p11.2 1 120840357A> G null S G 844 844 missense 0.003 benign 0.5 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273411 1p11.2 1 120840358G> T null S I 844 844 missense 0.622 possibly damaging 0.14 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273417 1p11.2 1 120840360A> G null M V 845 845 missense 0.001 benign 0.16 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273419 1p11.2 1 120840363C> G null L V 846 846 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273422 1p11.2 1 120840368G> T null M I 847 847 missense 0.038 benign 0.05 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273423 1p11.2 1 120840369G> T null E * 848 848 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1400863898 1p11.2 1 120840370A> T null E V 848 848 missense 0.697 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273428 1p11.2 1 120840372G> T null V L 849 849 missense 0.364 benign 0.07 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273430 1p11.2 1 120840377A> T null E D 850 850 missense 0.364 benign 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273432 1p11.2 1 120840378G> A null E K 851 851 missense 0.622 possibly damaging 0.09 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273433 1p11.2 1 120840381C> T null P S 852 852 missense 0.852 possibly damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273436 1p11.2 1 120840387G> A null V I 854 854 missense 0.321 benign 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs77143638 1p11.2 1 120840392G> T null L F 855 855 missense 0.948 probably damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs77143638 1p11.2 1 120840392G> C null L F 855 855 missense 0.948 probably damaging 0.04 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273438 1p11.2 1 120840391T> C null L S 855 855 missense 0.444 benign 0.22 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273441 1p11.2 1 120840393C> G null Q E 856 856 missense 0.885 possibly damaging 0.17 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1281133976 1p11.2 1 120840398C> G null D E 857 857 missense 0.451 possibly damaging 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273443 1p11.2 1 120840397A> T null D V 857 857 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273444 1p11.2 1 120840400C> A null S * 858 858 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273447 1p11.2 1 120840406A> G null D G 860 860 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273447 1p11.2 1 120840406A> T null D V 860 860 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs77570381 1p11.2 1 120840409T> A null I K 861 861 missense 0.015 benign 0.09 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs77570381 1p11.2 1 120840409T> G null I R 861 861 missense 0.0 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs77570381 1p11.2 1 120840409T> C null I T 861 861 missense 0.114 benign 0.02 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs78149412 1p11.2 1 120840408A> G null I V 861 861 missense 0.079 benign 0.05 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273456 1p11.2 1 120840415A> T null Y F 863 863 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273457 1p11.2 1 120840418C> T null S L 864 864 missense 0.091 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273459 1p11.2 1 120840424C> T null P L 866 866 missense 0.417 benign 0.05 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273459 1p11.2 1 120840424C> A null P Q 866 866 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273466 1p11.2 1 120840427C> G null S * 867 867 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273466 1p11.2 1 120840427C> T null S L 867 867 missense 0.561 possibly damaging 0.09 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273463 1p11.2 1 120840426T> C null S P 867 867 missense 0.054 benign 0.06 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273474 1p11.2 1 120840431G> A null M I 868 868 missense 0.012 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273469 1p11.2 1 120840429A> C null M L 868 868 missense 0.007 benign 0.47 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273469 1p11.2 1 120840429A> G null M V 868 868 missense 0.012 benign 0.96 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273477 1p11.2 1 120840434C> G null Y * 869 869 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs200993524 1p11.2 1 120840433A> T null Y F 869 869 missense 0.037 benign 0.54 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1320886720 1p11.2 1 120840438G> T null E * 871 871 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273486 1p11.2 1 120840444C> T null P S 873 873 missense 0.061 benign 0.63 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273486 1p11.2 1 120840444C> A null P T 873 873 missense 0.012 benign 0.82 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs201700290 1p11.2 1 120840449C> G null D E 874 874 missense 0.931 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273490 1p11.2 1 120840447G> A null D N 874 874 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1488662330 1p11.2 1 120840453T> G null F V 876 876 missense 0.098 benign 0.49 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273496 1p11.2 1 120840464C> G null Y * 879 879 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273500 1p11.2 1 120840465A> T null R * 880 880 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273502 1p11.2 1 120840467A> T null R S 880 880 missense 0.009 benign 0.45 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273502 1p11.2 1 120840467A> C null R S 880 880 missense 0.009 benign 0.45 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1218667545 1p11.2 1 120840476T> G null F L 883 883 missense 0.037 benign 0.39 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273513 1p11.2 1 120840481C> G null S * 885 885 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 Ensembl rs1557994087 1p11.2 1 120840486G> A null E K 887 887 missense 0.396 benign 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273518 1p11.2 1 120840487A> T null E V 887 887 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273522 1p11.2 1 120840492G> C null E Q 889 889 missense 0.006 benign 1.0 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273529 1p11.2 1 120840507G> A null A T 894 894 missense 0.335 benign 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1170277300 1p11.2 1 120840508C> T null A V 894 894 missense 0.321 benign 0.15 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273530 1p11.2 1 120840510C> A null L I 895 895 missense 0.024 benign 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273530 1p11.2 1 120840510C> G null L V 895 895 missense 0.024 benign 0.05 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273534 1p11.2 1 120840515C> G null Y * 896 896 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273533 1p11.2 1 120840513T> C null Y H 896 896 missense 0.709 possibly damaging 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs144324257 1p11.2 1 120840516G> T null V L 897 897 missense 0.033 benign 0.05 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs144324257 1p11.2 1 120840516G> A null V M 897 897 missense 0.058 benign 0.22 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273540 1p11.2 1 120840521C> A null D E 898 898 missense 0.091 benign 0.1 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1275975442 1p11.2 1 120840520A> G null D G 898 898 missense 0.054 benign 0.05 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1198937020 1p11.2 1 120840519G> A null D N 898 898 missense 0.839 possibly damaging 0.01 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1198937020 1p11.2 1 120840519G> T null D Y 898 898 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273542 1p11.2 1 120840523A> G null N S 899 899 missense 0.026 benign 0.31 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273544 1p11.2 1 120840525A> T null R W 900 900 missense 0.753 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273548 1p11.2 1 120840528T> G null F V 901 901 missense 0.723 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1356351518 1p11.2 1 120840535C> G null T S 903 903 missense 0.015 benign 0.15 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs141827934 1p11.2 1 120840541C> T null T M 905 905 missense 0.04 benign 0.31 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273563 1p11.2 1 120840549A> T null S C 908 908 missense 0.785 possibly damaging 0.0 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273563 1p11.2 1 120840549A> G null S G 908 908 missense 0.205 benign 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273564 1p11.2 1 120840552C> G null L V 909 909 missense 0.672 possibly damaging 0.09 tolerated 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273569 1p11.2 1 120840558C> G null L V 911 911 missense 0.036 benign 0.03 deleterious 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1351927565 1p11.2 1 120840566C> G null F L 913 913 missense 0.025 benign 0.0 deleterious - low confidence 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273571 1p11.2 1 120840565T> C null F S 913 913 missense 0.885 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs78765201 1p11.2 1 120840573G> T null G * 916 916 stop gained 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 Ensembl rs79517418 1p11.2 1 120840574G> T null G V 916 916 missense 0.205 benign 0.01 deleterious - low confidence 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273577 1p11.2 1 120840579A> C null I L 918 918 missense 0.421 benign 0.05 deleterious - low confidence 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1447338775 1p11.2 1 120840584C> G null F L 919 919 missense 0.647 possibly damaging 0.08 tolerated - low confidence 0 A0A075B7F9 NBPF26 Neuroblastoma breakpoint family member 26 TOPMed rs1553273578 1p11.2 1 120840585C> A null P T 920 920 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,TOPMed rs368121798 19p12 19 21988908C> G null G A 2 2 missense 0.491 possibly damaging 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs777567616 19p12 19 21988909C> T null G R 2 2 missense 0.901 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1451713554 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21988906A> G null S P 3 3 missense 0.006 benign 0.89 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775387756 19p12 19 21988899G> A null T I 5 5 missense 0.443 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1468422816 19p12 19 21988890T> A null D V 8 8 missense 0.122 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs769620357 19p12 19 21988891C> A null D Y 8 8 missense 0.908 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1469970464 19p12 19 21988888C> G null V L 9 9 missense 0.175 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1046164440 19p12 19 21988884G> C null A G 10 10 missense 0.112 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1194539935 19p12 19 21988885C> G null A P 10 10 missense 0.878 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs546299649 19p12 19 21988881A> G null I T 11 11 2.0E-4 missense 0.798 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs770626441 19p12 19 21988869A> G null L P 15 15 missense 0.038 benign 0.23 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1400094152 19p12 19 21988858G> C null Q E 19 19 missense 0.084 benign 0.79 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs777490047 19p12 19 21988855A> G null C R 20 20 missense 0.087 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1332959499 19p12 19 21988854C> T null C Y 20 20 missense 0.663 possibly damaging 0.13 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs753304507 19p12 19 21988848T> C null D G 22 22 missense 0.798 possibly damaging 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs199911466 19p12 19 21988849C> G null D H 22 22 missense 0.159 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs199911466 19p12 19 21988849C> T null D N 22 22 missense 0.799 possibly damaging 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs894578009 19p12 19 21988846T> C null T A 23 23 missense 0.084 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1308185571 19p12 19 21988845G> C null T S 23 23 missense 0.084 benign 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,gnomAD rs560530147 19p12 19 21988843C> A null A S 24 24 2.0E-4 missense 0.491 possibly damaging 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs761026369 19p12 19 21988839T> G null Q P 25 25 missense 0.048 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1055961320 19p12 19 21988835C> G null Q H 26 26 missense 0.892 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1279690111 19p12 19 21988832A> T null N K 27 27 missense 0.084 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568451809 19p12 19 21988834T> A null N Y 27 27 missense 0.761 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1378923783 19p12 19 21988831A> T null L I 28 28 missense 0.372 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs750633404 19p12 19 21988826A> T null Y * 29 29 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs781291374 19p12 19 21988827T> C null Y C 29 29 missense 0.947 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1302624852 19p12 19 21988828A> G null Y H 29 29 missense 0.93 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs767635650 19p12 19 21988814C> G null M I 33 33 missense 0.39 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs926128081 19p12 19 21988811T> G null L F 34 34 missense 0.838 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs183862141 19p12 19 21988803T> C null Y C 37 37 2.0E-4 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs759330675 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19p12 19 21988796G> T null N K 39 39 missense 0.284 benign 0.0 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1272718549 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21988797T> C null N S 39 39 missense 0.284 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1453005231 19p12 19 21988785A> G null L P 43 43 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs747737542 19p12 19 21987306C> G null A P 46 46 missense 0.931 probably damaging 0.35 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs751934829 19p12 19 21987305G> A null A V 46 46 missense 0.122 benign 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs749858217 19p12 19 21987285T> C null I V 53 53 missense 0.108 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1236064492 19p12 19 21987281A> G null I T 54 54 missense 0.018 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1160443372 19p12 19 21987275A> T null L Q 56 56 missense 0.897 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs200947165 19p12 19 21987272T> C null E G 57 57 missense 0.572 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1391573169 19p12 19 21987269T> G null E A 58 58 missense 0.018 benign 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs746257512 19p12 19 21987270C> G null E Q 58 58 missense 0.018 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs781473866 19p12 19 21987267C> T null G R 59 59 missense 0.642 possibly damaging 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs757471229 19p12 19 21987261C> A null E * 61 61 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs757471229 19p12 19 21987261C> G null E Q 61 61 missense 0.341 benign 0.13 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs751772619 19p12 19 21987258A> G null S P 62 62 missense 0.001 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs753852303 19p12 19 21987253C> A null W C 63 63 missense 0.063 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs758384640 19p12 19 21987255A> G null W R 63 63 missense 0.112 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs766257815 19p12 19 21987251T> C null N S 64 64 missense 0.07 benign 0.56 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs758631446 19p12 19 21987248A> G null M T 65 65 missense 0.113 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs773146053 19p12 19 21987231C> T null V M 71 71 missense 0.458 possibly damaging 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1345152525 19p12 19 21987228C> G null E Q 72 72 missense 0.063 benign 0.5 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1057360410 19p12 19 21987223T> G null E D 73 73 missense 0.039 benign 0.39 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs767417224 19p12 19 21987222A> G null S P 74 74 missense 0.006 benign 0.54 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs772197664 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19p12 19 21974803T> C null I M 77 77 missense 0.171 benign 1.0 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs778151014 19p12 19 21974804A> G null I T 77 77 missense 0.108 benign 0.29 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1352083848 19p12 19 21974802A> G null C R 78 78 missense 0.021 benign 0.44 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1223569140 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974798G> A null S F 79 79 missense 0.127 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs779191697 19p12 19 21974795T> C null H R 80 80 missense 0.17 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1175049913 19p12 19 21974796G> A null H Y 80 80 missense 0.108 benign 0.36 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs755085702 19p12 19 21974787G> C null Q E 83 83 missense 0.108 benign 0.27 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs750423974 19p12 19 21974782A> T null D E 84 84 missense 0.062 benign 0.22 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs781307246 19p12 19 21974777C> T null W * 86 86 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs781307246 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:583 19p12 19 21974777C> A null W L 86 86 missense 0.062 benign 0.89 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs781307246 19p12 19 21974777C> G null W S 86 86 missense 0.17 benign 0.55 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs757166218 19p12 19 21974771T> C null E G 88 88 missense 0.118 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs751321356 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974768T> C null Q R 89 89 missense 0.731 possibly damaging 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs373289728 19p12 19 21974765C> T null G D 90 90 missense 0.034 benign 0.34 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1467211988 19p12 19 21974763T> C null I V 91 91 missense 0.061 benign 0.56 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568446353 19p12 19 21974755A> C null D E 93 93 missense 0.236 benign 0.45 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs762583745 19p12 19 21974756T> C null D G 93 93 missense 0.054 benign 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1233383518 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974753G> T null S Y 94 94 missense 0.236 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568446339 19p12 19 21974748G> A null Q * 96 96 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1469616447 19p12 19 21974745T> A null K * 97 97 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1413142222 19p12 19 21974744T> C null K R 97 97 missense 0.198 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs117044035 19p12 19 21974742C> G null V L 98 98 5.99E-4 missense 0.142 benign 0.3 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs117044035 19p12 19 21974742C> T null V M 98 98 5.99E-4 missense 0.406 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1012780346 19p12 19 21974738A> T null I K 99 99 missense 0.219 benign 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1420243583 19p12 19 21974737T> C null I M 99 99 missense 0.406 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1012780346 19p12 19 21974738A> G null I T 99 99 missense 0.09 benign 0.28 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1156701534 19p12 19 21974734C> G null L F 100 100 missense 0.965 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs776080917 19p12 19 21974733T> C null R G 101 101 missense 0.917 probably damaging 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs766895514 19p12 19 21974731T> A null R S 101 101 missense 0.729 possibly damaging 0.23 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1189694643 19p12 19 21974730T> C null R G 102 102 missense 0.669 possibly damaging 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs267605388 19p12 19 21974729C> T null R K 102 102 missense 0.051 benign 0.38 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs761187594 19p12 19 21974728C> A null R S 102 102 missense 0.09 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs267605388 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974729C> G null R T 102 102 missense 0.09 benign 0.34 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs772471432 19p12 19 21974725A> C null Y * 103 103 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs773453752 19p12 19 21974727A> G null Y H 103 103 missense 0.43 benign 0.3 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs748367150 19p12 19 21974718A> G null C R 106 106 missense 0.236 benign 0.31 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs369173282 19p12 19 21974715C> T null G R 107 107 missense 0.398 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs567221926 19p12 19 21974711T> A null H L 108 108 2.0E-4 missense 0.66 possibly damaging 0.77 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs567221926 19p12 19 21974711T> G null H P 108 108 2.0E-4 missense 0.144 benign 0.35 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs567221926 19p12 19 21974711T> C null H R 108 108 2.0E-4 missense 0.2 benign 0.47 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1442134378 19p12 19 21974712G> A null H Y 108 108 missense 0.236 benign 0.87 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs780221496 19p12 19 21974707C> G null E D 109 109 missense 0.034 benign 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs780221496 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21974707C> A null E D 109 109 missense 0.034 benign 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs745644340 19p12 19 21974706T> G null N H 110 110 missense 0.535 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1272750225 19p12 19 21974698G> C null H Q 112 112 missense 0.018 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs746966434 19p12 19 21974700G> A null H Y 112 112 missense 0.039 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs199870848 19p12 19 21974691T> C null I V 115 115 missense 0.249 benign 0.13 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752390216 19p12 19 21974688C> G null G R 116 116 missense 0.198 benign 0.31 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752390216 cosmic curated [Cosmic]: lung cosmic_study:583 19p12 19 21974688C> T null G S 116 116 missense 0.142 benign 0.43 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568446283 19p12 19 21974687C> A null G V 116 116 missense 0.406 benign 0.13 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1273822082 19p12 19 21974684T> A null Y F 117 117 missense 0.628 possibly damaging 0.7 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs754577086 19p12 19 21974681G> T null T N 118 118 missense 0.352 benign 0.31 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1452947832 19p12 19 21974676C> T null V M 120 120 missense 0.661 possibly damaging 0.38 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1166747034 19p12 19 21974672T> C null D G 121 121 missense 0.17 benign 0.28 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs934538233 19p12 19 21974673C> G null D H 121 121 missense 0.952 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146307303 19p12 19 21974666C> A null C F 123 123 0.009385 missense 0.141 benign 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146307303 19p12 19 21974666C> T null C Y 123 123 0.009385 missense 0.099 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs773746401 19p12 19 21974664T> C null K E 124 124 missense 0.32 benign 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs776167645 19p12 19 21974658G> C null H D 126 126 missense 0.577 possibly damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs762268288 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974653T> G null K N 127 127 missense 0.738 possibly damaging 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs774806098 19p12 19 21974650T> A null E D 128 128 missense 0.236 benign 0.33 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs769009774 19p12 19 21974648C> A null G V 129 129 missense 0.561 possibly damaging 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1212158264 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21974646A> G null Y H 130 130 missense 0.276 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775775635 19p12 19 21974643T> C null N D 131 131 missense 0.236 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568446243 19p12 19 21974642T> C null N S 131 131 missense 0.236 benign 0.32 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs769908813 19p12 19 21974634T> G null N H 134 134 missense 0.973 probably damaging 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs373282464 19p12 19 21974630T> C null Q R 135 135 missense 0.904 possibly damaging 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs777738850 19p12 19 21974625A> C null L V 137 137 missense 0.142 benign 0.43 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs747961848 19p12 19 21974616T> C null T A 140 140 missense 0.073 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568446221 19p12 19 21974615G> C null T R 140 140 missense 0.894 possibly damaging 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1327699779 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19p12 19 21974613G> T null Q K 141 141 missense 0.063 benign 0.3 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1459643625 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:23619168,cosmic_study:561 19p12 19 21974612T> C null Q R 141 141 missense 0.063 benign 0.24 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs754630199 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 19p12 19 21974604C> T null V I 144 144 missense 0.003 benign 1.0 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs754630199 cosmic curated [Cosmic]: large_intestine cosmic_study:376 19p12 19 21974604C> G null V L 144 144 missense 0.035 benign 0.27 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs753484585 19p12 19 21974597T> C null Q R 146 146 missense 0.675 possibly damaging 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs530559517 19p12 19 21974595G> A null R C 147 147 3.99E-4 missense 0.0 benign 0.96 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186041791 19p12 19 21974594C> T null R H 147 147 0.001198 missense 0.272 benign 0.56 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs530559517 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974595G> T null R S 147 147 3.99E-4 missense 0.012 benign 0.44 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1255398971 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974591C> T null G D 148 148 missense 0.001 benign 0.81 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs768088813 19p12 19 21974585T> C null Y C 150 150 missense 0.104 benign 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1337622689 19p12 19 21974580T> C null N D 152 152 missense 0.058 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs751973755 19p12 19 21974579T> C null N S 152 152 missense 0.08 benign 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs763329633 19p12 19 21974577C> T null V I 153 153 missense 0.021 benign 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs369077221 19p12 19 21974574A> G null F L 154 154 missense 0.426 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1444341703 19p12 19 21974565A> G null C R 157 157 missense 0.201 benign 0.35 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1194204600 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p12 19 21974552T> C null N S 161 161 missense 0.053 benign 0.42 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs769807307 19p12 19 21974546T> C null H R 163 163 missense 0.092 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs775836865 19p12 19 21974547G> A null H Y 163 163 missense 0.036 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1485995611 19p12 19 21974541T> C null I V 165 165 missense 0.021 benign 0.3 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs759695847 19p12 19 21974534T> A null H L 167 167 missense 0.176 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs776526373 19p12 19 21974531G> A null T I 168 168 missense 0.285 benign 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs148173796 cosmic curated [Cosmic]: skin pubmed:21499247,cosmic_study:348 19p12 19 21974529C> T null G R 169 169 missense 0.04 benign 0.08 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs748013086 19p12 19 21974524C> A null K N 170 170 missense 0.125 benign 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1239173802 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19p12 19 21974520G> A null H Y 172 172 missense 0.122 benign 0.78 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1436317714 19p12 19 21974517A> T null L M 173 173 missense 0.441 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1201222754 19p12 19 21974514G> C null Q E 174 174 missense 0.001 benign 0.4 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1193493874 19p12 19 21974510C> A null C F 175 175 missense 0.305 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs774831444 19p12 19 21974505C> A null E * 177 177 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs774831444 19p12 19 21974505C> T null E K 177 177 missense 0.015 benign 0.54 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs774831444 19p12 19 21974505C> G null E Q 177 177 missense 0.05 benign 0.51 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs780498478 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974498A> G null V A 179 179 missense 0.014 benign 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs780498478 19p12 19 21974498A> T null V D 179 179 missense 0.0 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs376797570 19p12 19 21974499C> T null V I 179 179 missense 0.091 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1333735851 19p12 19 21974486C> A null C F 183 183 missense 0.001 benign 0.7 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752094642 19p12 19 21974482C> T null M I 184 184 missense 0.003 benign 0.4 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs757903249 19p12 19 21974484T> G null M L 184 184 missense 0.003 benign 0.67 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1376814606 19p12 19 21974480A> G null L P 185 185 missense 0.024 benign 0.22 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1376814606 19p12 19 21974480A> C null L R 185 185 missense 0.072 benign 0.39 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,TOPMed rs372489570 19p12 19 21974481G> C null L V 185 185 missense 0.166 benign 0.52 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1434659567 19p12 19 21974475G> A null H Y 187 187 missense 0.426 benign 0.8 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752967678 19p12 19 21974472G> C null L V 188 188 missense 0.291 benign 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs759621089 19p12 19 21974468G> C null S C 189 189 missense 0.003 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs759621089 19p12 19 21974468G> A null S F 189 189 missense 0.193 benign 0.38 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC rs185941153 19p12 19 21974461A> T null H Q 191 191 2.0E-4 missense 0.864 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1348425447 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p12 19 21974463G> A null H Y 191 191 missense 0.182 benign 0.0 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs61755891 19p12 19 21974460T> C null K E 192 192 missense 0.212 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs774239343 19p12 19 21974459T> C null K R 192 192 missense 0.263 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs774239343 19p12 19 21974459T> G null K T 192 192 missense 0.396 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs768540069 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974456C> A null R I 193 193 missense 0.003 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568446066 19p12 19 21974447G> A null T I 196 196 missense 0.012 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1327819983 19p12 19 21974441T> C null E G 198 198 missense 0.07 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs779654274 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974442C> T null E K 198 198 missense 0.14 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1444984556 19p12 19 21974439T> A null N Y 199 199 missense 0.072 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs561185999 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974435G> A null S F 200 200 2.0E-4 missense 0.001 benign 0.23 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs756810255 19p12 19 21974431G> C null Y * 201 201 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs780809486 19p12 19 21974433A> G null Y H 201 201 missense 0.96 probably damaging 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs375556328 19p12 19 21974429T> A null K I 202 202 missense 0.986 probably damaging 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs375556328 19p12 19 21974429T> G null K T 202 202 missense 0.99 probably damaging 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1345241021 19p12 19 21974426C> T null C Y 203 203 missense 0.828 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs758928575 19p12 19 21974424C> T null E K 204 204 missense 0.664 possibly damaging 0.95 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed rs765455957 19p12 19 21974417C> T null G D 206 206 missense 0.3 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs753121364 19p12 19 21974418C> G null G R 206 206 missense 0.003 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs753121364 19p12 19 21974418C> T null G S 206 206 missense 0.159 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed rs765455957 19p12 19 21974417C> A null G V 206 206 missense 0.138 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568446010 19p12 19 21974414C> T null G D 207 207 missense 0.994 probably damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs766484767 19p12 19 21974408G> C null A G 209 209 missense 0.979 probably damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed rs753993059 19p12 19 21974409C> G null A P 209 209 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1476318575 19p12 19 21974406A> C null F V 210 210 missense 0.902 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC rs543100062 cosmic curated [Cosmic]: autonomic_ganglia pubmed:23334666,cosmic_study:466 19p12 19 21974399C> A null W L 212 212 2.0E-4 missense 0.458 possibly damaging 0.65 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs760774503 19p12 19 21974400A> T null W R 212 212 missense 0.1 benign 0.4 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1187453732 19p12 19 21974390G> T null T N 215 215 missense 0.03 benign 0.59 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1243906761 19p12 19 21974387A> T null L H 216 216 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1239489074 19p12 19 21974388G> C null L V 216 216 missense 0.107 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs762729026 19p12 19 21974378T> C null Y C 219 219 missense 0.0 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,NCI-TCGA rs372427595 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974375T> C null K R 220 220 missense 0.687 possibly damaging 0.27 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs368626106 19p12 19 21974373T> A null S C 221 221 missense 0.092 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs61748335 19p12 19 21974370C> A null A S 222 222 missense 0.409 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs61748335 19p12 19 21974370C> T null A T 222 222 missense 0.333 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs61748336 cosmic curated [Cosmic]: lung cosmic_study:583 19p12 19 21974369G> A null A V 222 222 missense 0.036 benign 0.13 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs746542423 19p12 19 21974367G> T null H N 223 223 missense 0.298 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1232283346 19p12 19 21974366T> C null H R 223 223 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs746542423 19p12 19 21974367G> A null H Y 223 223 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1271427700 19p12 19 21974361C> T null G R 225 225 missense 0.788 possibly damaging 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1326299631 19p12 19 21974356C> G null E D 226 226 missense 0.005 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs181405778 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974357T> C null E G 226 226 5.99E-4 missense 0.646 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61748342 19p12 19 21974353T> G null K N 227 227 0.003794 missense 0.622 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1327028957 19p12 19 21974354T> G null K T 227 227 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1392709802 19p12 19 21974352G> A null P S 228 228 missense 0.4 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1392709802 19p12 19 21974352G> T null P T 228 228 missense 0.817 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61748345 19p12 19 21974345C> T null R K 230 230 5.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1410737186 19p12 19 21974344T> A null R S 230 230 missense 0.003 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1410737186 19p12 19 21974344T> G null R S 230 230 missense 0.003 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs373899396 19p12 19 21974343A> T null C S 231 231 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs61748347 19p12 19 21974340T> C null K E 232 232 missense 0.003 benign 0.94 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,TOPMed,gnomAD rs371199411 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19p12 19 21974337C> A null E * 233 233 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,TOPMed,gnomAD rs371199411 19p12 19 21974337C> G null E Q 233 233 missense 0.012 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200131905 19p12 19 21974336T> A null E V 233 233 2.0E-4 missense 0.075 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1391901150 19p12 19 21974327T> A null K I 236 236 missense 0.952 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs756268516 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974325C> T null A T 237 237 missense 0.019 benign 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1271027517 19p12 19 21974321A> G null F S 238 238 missense 0.613 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs750504792 19p12 19 21974318C> A null S I 239 239 missense 0.312 benign 0.53 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs750504792 19p12 19 21974318C> T null S N 239 239 missense 0.005 benign 0.72 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184970596 19p12 19 21974312A> T null F Y 241 241 5.99E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs763000918 19p12 19 21974309G> A null S L 242 242 missense 0.445 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775264195 19p12 19 21974304G> A null L F 244 244 missense 0.934 probably damaging 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs765124325 19p12 19 21974297T> C null K R 246 246 missense 0.01 benign 0.6 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs759285591 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974295G> T null H N 247 247 missense 0.613 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs957147849 19p12 19 21974294T> G null H P 247 247 missense 0.971 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs957147849 19p12 19 21974294T> C null H R 247 247 missense 0.185 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs759285591 19p12 19 21974295G> A null H Y 247 247 missense 0.393 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1032751712 19p12 19 21974289C> T null V I 249 249 missense 0.0 benign 0.31 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1325567523 19p12 19 21974284A> C null I M 250 250 missense 0.298 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1443217458 19p12 19 21974282T> A null H L 251 251 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1190563994 19p12 19 21974276C> T null G E 253 253 missense 0.226 benign 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1356443530 19p12 19 21974271T> C null K E 255 255 missense 0.031 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs61739967 cosmic curated [Cosmic]: prostate cosmic_study:435 19p12 19 21974268A> G null S P 256 256 missense 0.0 benign 1.0 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs61739967 19p12 19 21974268A> T null S T 256 256 missense 0.001 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs772925586 19p12 19 21974263G> T null Y * 257 257 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,gnomAD rs370092352 19p12 19 21974258C> T null C Y 259 259 missense 0.171 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200564282 19p12 19 21974254T> G null E D 260 260 2.0E-4 missense 0.26 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs769157636 19p12 19 21974253C> A null E * 261 261 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs749625830 19p12 19 21974250A> C null C G 262 262 missense 0.24 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1480768866 19p12 19 21974249C> G null C S 262 262 missense 0.619 possibly damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs756391148 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p12 19 21974246C> T null G D 263 263 missense 0.812 possibly damaging 0.04 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs750627514 19p12 19 21974243T> C null K R 264 264 missense 0.5 possibly damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs377709801 19p12 19 21974240G> C null A G 265 265 missense 0.16 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs555319156 19p12 19 21974241C> G null A P 265 265 3.99E-4 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs555319156 19p12 19 21974241C> T null A T 265 265 3.99E-4 missense 0.125 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs377709801 19p12 19 21974240G> A null A V 265 265 missense 0.177 benign 0.22 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs751621922 19p12 19 21974236A> T null F L 266 266 missense 0.365 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs765113757 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19p12 19 21974232G> A null Q * 268 268 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs765113757 19p12 19 21974232G> T null Q K 268 268 missense 0.003 benign 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs201310468 19p12 19 21974231T> C null Q R 268 268 missense 0.003 benign 0.54 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs759463011 19p12 19 21974228G> A null S F 269 269 missense 0.024 benign 0.59 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 NCI-TCGA,gnomAD rs202182420 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974226C> A null A S 270 270 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs202182420 19p12 19 21974226C> T null A T 270 270 missense 0.0 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77817872 19p12 19 21974223T> C null I V 271 271 0.009385 missense 0.014 benign 0.49 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117477873 19p12 19 21974220G> A null L F 272 272 0.007788 missense 0.189 benign 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs376894168 19p12 19 21974216G> A null T I 273 273 missense 0.124 benign 0.37 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1213447297 19p12 19 21974209A> C null H Q 275 275 missense 0.844 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1436520851 19p12 19 21974210T> C null H R 275 275 missense 0.089 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs772978259 19p12 19 21974211G> A null H Y 275 275 missense 0.208 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs761251407 cosmic curated [Cosmic]: pancreas cosmic_study:382 19p12 19 21974206C> G null K N 276 276 missense 0.16 benign 0.08 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs771654301 19p12 19 21974207T> C null K R 276 276 missense 0.125 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs769045930 19p12 19 21974205T> A null I L 277 277 missense 0.054 benign 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs941360191 19p12 19 21974203T> C null I M 277 277 missense 0.445 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs749789908 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974204A> C null I R 277 277 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs769045930 19p12 19 21974205T> C null I V 277 277 missense 0.007 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs780452267 19p12 19 21974198T> A null H L 279 279 missense 0.753 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs746126229 19p12 19 21974192C> A null G V 281 281 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1484993861 19p12 19 21974188C> G null E D 282 282 missense 0.01 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2007506 19p12 19 21974190C> T null E K 282 282 0.4291 missense 0.047 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1255960956 19p12 19 21974185T> G null K N 283 283 missense 0.618 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1436523212 19p12 19 21974184G> T null P T 284 284 missense 0.896 possibly damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed rs751606137 19p12 19 21974180T> A null N I 285 285 missense 0.03 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed rs751606137 19p12 19 21974180T> C null N S 285 285 missense 0.001 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs61742421 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19p12 19 21974181T> A null N Y 285 285 missense 0.0 benign 1.0 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1290243599 19p12 19 21974177T> C null K R 286 286 missense 0.188 benign 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1305308568 19p12 19 21974174C> A null C F 287 287 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs777845318 19p12 19 21974175A> G null C R 287 287 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1305308568 19p12 19 21974174C> T null C Y 287 287 missense 0.693 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs754938290 cosmic curated [Cosmic]: kidney cosmic_study:588 19p12 19 21974171T> C null E G 288 288 missense 0.962 probably damaging 0.08 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1292893647 19p12 19 21974169C> G null E Q 289 289 missense 0.96 probably damaging 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1356272581 19p12 19 21974166A> G null C R 290 290 missense 0.691 possibly damaging 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1295226196 19p12 19 21974163C> G null G R 291 291 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568445732 19p12 19 21974158T> A null K N 292 292 missense 0.566 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1047125116 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974157C> T null A T 293 293 missense 0.172 benign 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs766325875 19p12 19 21974152A> T null F L 294 294 missense 0.484 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs750193108 19p12 19 21974149A> T null S R 295 295 missense 0.019 benign 0.59 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs760515840 19p12 19 21974150C> G null S T 295 295 missense 0.003 benign 0.71 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs928125945 19p12 19 21974144A> T null V D 297 297 missense 0.0 benign 0.22 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1156597367 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974145C> A null V F 297 297 missense 0.0 benign 0.75 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12462668 19p12 19 21974141G> A null S L 298 298 0.1699 missense 0.408 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs768196930 19p12 19 21974138G> T null T N 299 299 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs758451985 19p12 19 21974132G> A null T I 301 301 missense 0.078 benign 0.3 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs758451985 19p12 19 21974132G> T null T N 301 301 missense 0.031 benign 0.34 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1345404150 19p12 19 21974130T> C null T A 302 302 missense 0.0 benign 0.75 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs746257389 19p12 19 21974126T> C null H R 303 303 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs547283798 19p12 19 21974127G> A null H Y 303 303 2.0E-4 missense 0.895 possibly damaging 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs777000261 19p12 19 21974124T> C null K E 304 304 missense 0.452 possibly damaging 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs771065393 19p12 19 21974118T> C null I V 306 306 missense 0.286 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1340012894 19p12 19 21974114T> A null H L 307 307 missense 0.544 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1231669129 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p12 19 21974115G> T null H N 307 307 missense 0.241 benign 0.01 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1340012894 19p12 19 21974114T> C null H R 307 307 missense 0.124 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1296299264 19p12 19 21974111G> T null A D 308 308 missense 0.143 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs948246312 19p12 19 21974112C> A null A S 308 308 missense 0.003 benign 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs948246312 19p12 19 21974112C> T null A T 308 308 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1363927951 19p12 19 21974108C> G null G A 309 309 missense 0.113 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1166721702 19p12 19 21974104C> G null E D 310 310 missense 0.011 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181305303 19p12 19 21974105T> C null E G 310 310 0.001597 missense 0.834 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1456543345 19p12 19 21974106C> T null E K 310 310 missense 0.082 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,TOPMed,gnomAD rs145088163 19p12 19 21974099G> A null P L 312 312 0.008986 missense 0.104 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1215368626 19p12 19 21974096T> C null Y C 313 313 missense 0.735 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1430836030 19p12 19 21974097A> T null Y N 313 313 missense 0.666 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs560282006 19p12 19 21974091A> G null C R 315 315 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs549343246 19p12 19 21974088T> A null K * 316 316 3.99E-4 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs549343246 19p12 19 21974088T> C null K E 316 316 3.99E-4 missense 0.0 benign 0.83 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1469858696 19p12 19 21974084T> G null E A 317 317 missense 0.963 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1255277114 19p12 19 21974083T> G null E D 317 317 missense 0.895 possibly damaging 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878941202 19p12 19 21974080A> T null C * 318 318 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1252289158 19p12 19 21974082A> G null C R 318 318 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs531019334 19p12 19 21974078C> T null G D 319 319 3.99E-4 missense 0.669 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs764752433 19p12 19 21974075T> A null K I 320 320 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs141968449 19p12 19 21974072G> C null A G 321 321 2.0E-4 missense 0.055 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756917187 19p12 19 21974073C> T null A T 321 321 missense 0.071 benign 0.22 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs141968449 19p12 19 21974072G> A null A V 321 321 2.0E-4 missense 0.103 benign 0.13 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs12978216 19p12 19 21974064T> C null K E 324 324 missense 0.006 benign 0.29 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs763548056 19p12 19 21974063T> C null K R 324 324 missense 0.0 benign 0.55 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1324703594 19p12 19 21974060A> T null V D 325 325 missense 0.311 benign 0.25 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs202200782 19p12 19 21974061C> A null V F 325 325 missense 0.006 benign 0.79 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs202200782 19p12 19 21974061C> T null V I 325 325 missense 0.163 benign 0.41 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed,gnomAD rs200983373 19p12 19 21974057G> A null S L 326 326 0.01637 missense 0.619 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1327591772 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974055T> C null T A 327 327 missense 0.115 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed rs202117924 19p12 19 21974054G> A null T I 327 327 0.02216 missense 0.066 benign 0.5 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs199858837 19p12 19 21974048A> T null I N 329 329 missense 0.0 benign 0.54 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs199858837 19p12 19 21974048A> G null I T 329 329 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs201854753 19p12 19 21974045G> A null T I 330 330 missense 0.028 benign 0.23 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs201854753 19p12 19 21974045G> T null T K 330 330 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1414429216 19p12 19 21974041A> C null H Q 331 331 missense 0.841 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1469411070 19p12 19 21974042T> C null H R 331 331 missense 0.978 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1168583680 19p12 19 21974040T> C null K E 332 332 missense 0.66 possibly damaging 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1174500959 19p12 19 21974039T> A null K M 332 332 missense 0.993 probably damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs759973283 19p12 19 21974038C> A null K N 332 332 missense 0.76 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1397284442 19p12 19 21974037C> T null A T 333 333 missense 0.381 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1419557057 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21974036G> A null A V 333 333 missense 0.011 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs878925465 19p12 19 21974028C> A null A S 336 336 missense 0.02 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs878925465 19p12 19 21974028C> T null A T 336 336 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1251563988 19p12 19 21974025C> T null G R 337 337 missense 0.648 possibly damaging 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs776931452 19p12 19 21974016G> C null P A 340 340 missense 0.546 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202168510 19p12 19 21974015G> A null P L 340 340 0.008986 missense 0.417 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1409594022 19p12 19 21974011G> C null Y * 341 341 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs747245015 cosmic curated [Cosmic]: prostate cosmic_study:435 19p12 19 21974009T> C null K R 342 342 missense 0.901 possibly damaging 0.06 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1357545388 19p12 19 21974006C> T null C Y 343 343 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1261043908 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19p12 19 21974004T> C null K E 344 344 missense 0.003 benign 0.91 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1330269698 19p12 19 21974003T> A null K I 344 344 missense 0.829 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1216445800 19p12 19 21973999T> G null E D 345 345 missense 0.101 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1312410619 19p12 19 21973998A> G null C R 346 346 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371394366 19p12 19 21973994C> T null G D 347 347 3.99E-4 missense 0.833 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1368165354 19p12 19 21973991T> G null K T 348 348 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1259365963 19p12 19 21973988G> C null A G 349 349 missense 0.989 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1029460376 19p12 19 21973986A> T null F I 350 350 missense 0.981 probably damaging 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs772386127 19p12 19 21973985A> G null F S 350 350 missense 0.911 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1029460376 19p12 19 21973986A> C null F V 350 350 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs748251035 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19p12 19 21973982C> A null S I 351 351 missense 0.018 benign 0.35 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1397383297 19p12 19 21973981A> T null S R 351 351 missense 0.162 benign 0.49 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs748251035 19p12 19 21973982C> G null S T 351 351 missense 0.001 benign 0.55 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed rs575701702 19p12 19 21973978C> G null K N 352 352 2.0E-4 missense 0.003 benign 0.34 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1168056066 19p12 19 21973970A> G null I T 355 355 missense 0.0 benign 0.72 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756187137 19p12 19 21973971T> C null I V 355 355 missense 0.007 benign 0.45 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs780894918 19p12 19 21973964G> A null T I 357 357 missense 0.006 benign 0.53 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs757508396 19p12 19 21973961T> G null K T 358 358 missense 0.003 benign 0.58 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs751270147 19p12 19 21973959G> C null H D 359 359 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs751270147 19p12 19 21973959G> A null H Y 359 359 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1211626739 cosmic curated [Cosmic]: central_nervous_system pubmed:23104868,cosmic_study:454 19p12 19 21973956T> C null K E 360 360 missense 0.393 benign 0.17 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs751798482 19p12 19 21973952A> G null V A 361 361 missense 0.0 benign 0.25 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs763756288 19p12 19 21973953C> A null V L 361 361 missense 0.0 benign 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1338995722 19p12 19 21973947G> C null H D 363 363 missense 0.992 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1335158296 19p12 19 21973945A> C null H Q 363 363 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs757990953 19p12 19 21973946T> C null H R 363 363 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752210454 19p12 19 21973944T> C null T A 364 364 missense 0.013 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs374786326 19p12 19 21973943G> A null T I 364 364 missense 0.29 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs760097530 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973940C> T null G E 365 365 missense 0.595 possibly damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1348184825 cosmic curated [Cosmic]: lung cosmic_study:583 19p12 19 21973941C> T null G R 365 365 missense 0.595 possibly damaging 0.08 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs760097530 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19p12 19 21973940C> A null G V 365 365 missense 0.691 possibly damaging 0.0 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1341293787 19p12 19 21973932G> C null P A 368 368 missense 0.021 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs777173912 19p12 19 21973931G> A null P L 368 368 missense 0.063 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs766693789 19p12 19 21973928T> C null Y C 369 369 missense 0.859 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs370096318 19p12 19 21973929A> T null Y N 369 369 missense 0.814 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1282140632 19p12 19 21973925T> C null K R 370 370 missense 0.209 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1414394736 19p12 19 21973923A> G null C R 371 371 missense 0.965 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs565329409 19p12 19 21973912G> T null C * 374 374 2.0E-4 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs762120661 19p12 19 21973911C> A null G C 375 375 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1160600789 19p12 19 21973910C> T null G D 375 375 missense 0.799 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs762120661 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21973911C> T null G S 375 375 missense 0.622 possibly damaging 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs774630539 19p12 19 21973906T> A null K N 376 376 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1253635005 19p12 19 21973901T> C null Y C 378 378 missense 0.423 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs768833730 19p12 19 21973902A> C null Y D 378 378 missense 0.175 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs781216830 19p12 19 21973897C> A null K N 379 379 missense 0.0 benign 0.89 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs745829167 19p12 19 21973899T> G null K Q 379 379 missense 0.094 benign 0.53 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs770722014 19p12 19 21973894C> T null W * 380 380 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs746831115 19p12 19 21973892G> A null P L 381 381 missense 0.0 benign 0.63 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1185333708 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973893G> A null P S 381 381 missense 0.0 benign 0.98 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1206629681 19p12 19 21973886G> A null T I 383 383 missense 0.012 benign 0.51 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1206629681 19p12 19 21973886G> C null T S 383 383 missense 0.035 benign 0.86 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1267156043 19p12 19 21973881T> C null S G 385 385 missense 0.003 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs758117672 19p12 19 21973880C> G null S T 385 385 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs778444260 19p12 19 21973876A> T null Y * 386 386 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1281856171 19p12 19 21973877T> C null Y C 386 386 missense 0.009 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1281856171 19p12 19 21973877T> A null Y F 386 386 missense 0.0 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1418931607 19p12 19 21973878A> T null Y N 386 386 missense 0.0 benign 0.52 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs963966170 19p12 19 21973874T> G null H P 387 387 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1451265433 19p12 19 21973873A> C null H Q 387 387 missense 0.562 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs963966170 19p12 19 21973874T> C null H R 387 387 missense 0.562 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs532329433 19p12 19 21973869T> C null K E 389 389 missense 0.047 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1435725588 19p12 19 21973867T> A null K N 389 389 missense 0.094 benign 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1388341031 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973859G> T null T N 392 392 missense 0.762 possibly damaging 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1433404720 19p12 19 21973860T> G null T P 392 392 missense 0.938 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,TOPMed,gnomAD rs370613691 19p12 19 21973856C> A null G V 393 393 missense 0.943 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1463209784 19p12 19 21973850T> G null K T 395 395 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs754480704 19p12 19 21973847G> C null P R 396 396 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1005533334 19p12 19 21973848G> A null P S 396 396 missense 0.562 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1005533334 19p12 19 21973848G> T null P T 396 396 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1195209615 19p12 19 21973843G> T null Y * 397 397 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1242671182 NCI-TCGA Cosmic [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 19p12 19 21973845A> G null Y H 397 397 missense 0.435 benign 0.02 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs766933320 19p12 19 21973837A> C null C W 399 399 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1463423372 19p12 19 21973838C> T null C Y 399 399 missense 0.323 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs761018710 19p12 19 21973836C> G null E Q 400 400 missense 0.995 probably damaging 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs750864497 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19p12 19 21973833C> A null E * 401 401 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1287161433 19p12 19 21973832T> G null E A 401 401 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1232238119 19p12 19 21973828A> C null C W 402 402 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1227206581 19p12 19 21973824T> G null K Q 404 404 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs796999390 19p12 19 21973821C> A null G C 405 405 missense 0.759 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,gnomAD rs377166338 19p12 19 21973820C> T null G D 405 405 missense 0.459 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs796999390 19p12 19 21973821C> T null G S 405 405 missense 0.074 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs774679770 19p12 19 21973814C> T null S N 407 407 missense 0.611 possibly damaging 0.87 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs763112834 19p12 19 21973810C> T null M I 408 408 missense 0.014 benign 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1205386945 19p12 19 21973811A> G null M T 408 408 missense 0.001 benign 0.22 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs768956179 19p12 19 21973812T> C null M V 408 408 missense 0.014 benign 0.25 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775370633 19p12 19 21973808A> T null F Y 409 409 missense 0.77 possibly damaging 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1047604535 19p12 19 21973805G> C null S * 410 410 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs994229354 19p12 19 21973803T> C null I V 411 411 missense 0.017 benign 0.43 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs906696018 19p12 19 21973800G> A null L F 412 412 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs746919831 19p12 19 21973796G> T null T N 413 413 missense 0.816 possibly damaging 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs771835546 19p12 19 21973792T> A null K N 414 414 missense 0.774 possibly damaging 0.39 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs113707335 19p12 19 21973787T> G null E A 416 416 missense 0.677 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs113707335 19p12 19 21973787T> C null E G 416 416 missense 0.774 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs747838999 19p12 19 21973788C> T null E K 416 416 missense 0.076 benign 0.86 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200134267 19p12 19 21973785C> T null V I 417 417 9.98E-4 missense 0.013 benign 0.28 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200134267 19p12 19 21973785C> G null V L 417 417 9.98E-4 missense 0.054 benign 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs916863468 cosmic curated [Cosmic]: central_nervous_system cosmic_study:379 19p12 19 21973781A> G null I T 418 418 missense 0.286 benign 0.03 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1054022736 19p12 19 21973778T> A null H L 419 419 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1054022736 19p12 19 21973778T> G null H P 419 419 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1220351602 19p12 19 21973777A> C null H Q 419 419 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl,NCI-TCGA rs113734787 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973779G> A null H Y 419 419 missense 0.607 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs779424739 19p12 19 21973775G> T null T N 420 420 missense 0.084 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs779424739 19p12 19 21973775G> C null T S 420 420 missense 0.007 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs370336128 19p12 19 21973772C> G null G A 421 421 missense 0.178 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs370336128 19p12 19 21973772C> T null G E 421 421 missense 0.574 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1304666335 19p12 19 21973770C> A null E * 422 422 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1365897070 19p12 19 21973767T> C null K E 423 423 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs762296488 19p12 19 21973765T> A null K N 423 423 missense 0.992 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs763015994 19p12 19 21973763G> A null P L 424 424 missense 0.315 benign 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs531150936 19p12 19 21973764G> A null P S 424 424 5.99E-4 missense 0.497 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs531150936 19p12 19 21973764G> T null P T 424 424 5.99E-4 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed rs765222161 19p12 19 21973755A> G null C R 427 427 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs563727398 19p12 19 21973754C> T null C Y 427 427 2.0E-4 missense 0.89 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs376313011 19p12 19 21973751T> C null E G 428 428 missense 0.731 possibly damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs747961743 19p12 19 21973744A> T null C * 430 430 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs771957894 19p12 19 21973746A> C null C G 430 430 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs768420033 19p12 19 21973742C> T null G D 431 431 missense 0.31 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs774075657 19p12 19 21973743C> T null G S 431 431 missense 0.453 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1380137029 19p12 19 21973738T> A null K N 432 432 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs779663839 19p12 19 21973739T> C null K R 432 432 missense 0.5 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1253369197 19p12 19 21973737C> G null A P 433 433 missense 0.886 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568445252 19p12 19 21973736G> A null A V 433 433 missense 0.245 benign 0.13 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs201605382 19p12 19 21973731T> G null N H 435 435 missense 0.445 benign 0.51 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1213628395 19p12 19 21973721G> A null S L 438 438 missense 0.179 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1460676283 19p12 19 21973717G> T null N K 439 439 missense 0.0 benign 0.79 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs781769134 19p12 19 21973711C> T null M I 441 441 missense 0.021 benign 0.63 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1300937578 19p12 19 21973712A> C null M R 441 441 missense 0.0 benign 0.27 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1300937578 19p12 19 21973712A> G null M T 441 441 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes rs533511875 19p12 19 21973707G> A null H Y 443 443 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs757778735 NCI-TCGA Cosmic [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23525077,cosmic_study:464 19p12 19 21973703T> G null K T 444 444 missense 0.962 probably damaging 0.02 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1286567551 19p12 19 21973701T> C null K E 445 445 missense 0.063 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1356148011 19p12 19 21973699T> A null K N 445 445 missense 0.125 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs751973913 19p12 19 21973700T> C null K R 445 445 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs751973913 19p12 19 21973700T> G null K T 445 445 missense 0.047 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs764365432 19p12 19 21973695G> T null H N 447 447 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs758706934 19p12 19 21973694T> C null H R 447 447 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1391746705 19p12 19 21973692T> C null T A 448 448 missense 0.516 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752845027 19p12 19 21973688C> G null G A 449 449 missense 0.954 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,NCI-TCGA,gnomAD rs559677640 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19p12 19 21973686C> A null E * 450 450 2.0E-4 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1307193360 19p12 19 21973685T> C null E G 450 450 missense 0.916 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,gnomAD rs559677640 19p12 19 21973686C> G null E Q 450 450 2.0E-4 missense 0.916 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs776644291 cosmic curated [Cosmic]: cervix cosmic_study:415 19p12 19 21973682G> T null T K 451 451 missense 0.0 benign 1.0 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs776644291 19p12 19 21973682G> C null T R 451 451 missense 0.001 benign 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs774258048 19p12 19 21973679G> A null P L 452 452 missense 0.904 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12975751 19p12 19 21973680G> A null P S 452 452 0.2995 missense 0.879 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12975751 19p12 19 21973680G> T null P T 452 452 0.2995 missense 0.415 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs768312127 19p12 19 21973676T> G null Y S 453 453 missense 0.938 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1184115181 19p12 19 21973674T> C null K E 454 454 missense 0.001 benign 0.4 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1482528859 19p12 19 21973671A> C null C G 455 455 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1482528859 19p12 19 21973671A> T null C S 455 455 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,TOPMed rs369373230 19p12 19 21973670C> T null C Y 455 455 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7255075 19p12 19 21973668C> T null E K 456 456 0.03035 missense 0.007 benign 0.65 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7255075 19p12 19 21973668C> G null E Q 456 456 0.03035 missense 0.031 benign 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775036679 19p12 19 21973661C> T null C Y 458 458 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs561854077 19p12 19 21973658C> T null G D 459 459 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs561854077 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 19p12 19 21973658C> A null G V 459 459 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1228004228 19p12 19 21973652C> G null G A 461 461 missense 0.039 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1258051139 19p12 19 21973653C> T null G S 461 461 missense 0.391 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1228004228 19p12 19 21973652C> A null G V 461 461 missense 0.58 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1480114680 19p12 19 21973649A> T null F Y 462 462 missense 0.619 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1268429888 19p12 19 21973342C> T null W * 464 464 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1343996853 19p12 19 21973343C> G null W S 464 464 missense 0.0 benign 0.43 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs112237751 19p12 19 21973341A> G null S P 465 465 missense 0.232 benign 0.23 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1326463141 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973334G> T null T N 467 467 missense 0.132 benign 0.67 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs775761794 19p12 19 21973332G> C null L V 468 468 missense 0.334 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1332736626 19p12 19 21973327A> C null S R 469 469 missense 0.0 benign 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs769973421 19p12 19 21973328C> G null S T 469 469 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1395858551 19p12 19 21973324A> T null Y * 470 470 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs533448436 19p12 19 21973322T> C null H R 471 471 2.0E-4 missense 0.524 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed rs371033881 19p12 19 21973320T> C null K E 472 472 missense 0.084 benign 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs757331665 19p12 19 21973317T> G null K Q 473 473 missense 0.007 benign 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1455782464 19p12 19 21973316T> C null K R 473 473 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs566057046 19p12 19 21973313A> G null I T 474 474 5.99E-4 missense 0.52 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1163866186 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973311G> A null H Y 475 475 missense 0.628 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139171819 19p12 19 21973308T> C null T A 476 476 0.001198 missense 0.031 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs753691282 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973304A> C null V G 477 477 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1248336948 19p12 19 21973302C> G null E Q 478 478 missense 0.158 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs766274492 19p12 19 21973295G> A null P L 480 480 missense 0.07 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1266973247 19p12 19 21973289T> A null K I 482 482 missense 0.889 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1032552440 19p12 19 21973290T> G null K Q 482 482 missense 0.291 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs750058773 19p12 19 21973287A> T null C S 483 483 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs200638062 19p12 19 21973286C> G null C S 483 483 7.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs200638062 19p12 19 21973286C> T null C Y 483 483 7.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,gnomAD rs371437541 19p12 19 21973283T> C null E G 484 484 missense 0.994 probably damaging 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375628317 19p12 19 21973284C> T null E K 484 484 2.0E-4 missense 0.991 probably damaging 0.57 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1366386074 19p12 19 21973280T> C null E G 485 485 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775888396 19p12 19 21973270T> G null K N 488 488 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1407205020 19p12 19 21973269C> G null A P 489 489 missense 0.898 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs543301426 19p12 19 21973265A> C null F C 490 490 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs770170539 19p12 19 21973266A> C null F V 490 490 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs543301426 19p12 19 21973265A> T null F Y 490 490 2.0E-4 missense 0.976 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs866559415 19p12 19 21973258T> A null Q H 492 492 missense 0.01 benign 0.59 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs531548670 19p12 19 21973259T> C null Q R 492 492 2.0E-4 missense 0.39 benign 0.52 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1207183307 19p12 19 21973256G> A null S F 493 493 missense 0.019 benign 0.73 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1247081762 19p12 19 21973250A> C null I S 495 495 missense 0.0 benign 0.79 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs777937669 19p12 19 21973251T> C null I V 495 495 missense 0.001 benign 0.33 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs945753533 19p12 19 21973248G> T null L I 496 496 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs749226936 19p12 19 21973243A> C null I M 497 497 missense 0.0 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs779764666 19p12 19 21973242T> C null K E 498 498 missense 0.007 benign 0.87 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs750132852 19p12 19 21973238T> A null H L 499 499 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs750132852 19p12 19 21973238T> C null H R 499 499 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs780907588 19p12 19 21973235T> C null K R 500 500 missense 0.492 possibly damaging 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1274331979 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21973232C> A null R I 501 501 missense 0.0 benign 0.34 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1274331979 19p12 19 21973232C> T null R K 501 501 missense 0.001 benign 0.88 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1274331979 19p12 19 21973232C> G null R T 501 501 missense 0.001 benign 0.35 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs756788669 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973229A> C null I S 502 502 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1300306249 19p12 19 21973226T> C null H R 503 503 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1226703572 19p12 19 21973224T> C null T A 504 504 missense 0.03 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs751136387 19p12 19 21973221C> A null G C 505 505 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs545629658 19p12 19 21973220C> T null G D 505 505 3.99E-4 missense 0.596 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs545629658 19p12 19 21973220C> A null G V 505 505 3.99E-4 missense 0.913 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs564629141 19p12 19 21973218C> T null E K 506 506 missense 0.117 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs564629141 19p12 19 21973218C> G null E Q 506 506 missense 0.196 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1423966055 19p12 19 21973208T> C null Y C 509 509 missense 0.091 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1332740664 19p12 19 21973209A> T null Y N 509 509 missense 0.926 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187756255 19p12 19 21973204T> A null K N 510 510 0.001398 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs753169164 19p12 19 21973206T> G null K Q 510 510 missense 0.841 possibly damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1427647070 19p12 19 21973202C> A null C F 511 511 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1418523234 19p12 19 21973201A> C null C W 511 511 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1427647070 19p12 19 21973202C> T null C Y 511 511 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1191418611 19p12 19 21973200C> A null E * 512 512 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,NCI-TCGA,gnomAD rs553606877 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973198T> G null E D 512 512 2.0E-4 missense 0.994 probably damaging 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1191418611 19p12 19 21973200C> T null E K 512 512 missense 0.996 probably damaging 0.6 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372689849 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19p12 19 21973197C> A null E * 513 513 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs372689849 19p12 19 21973197C> T null E K 513 513 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs910967378 19p12 19 21973193C> T null C Y 514 514 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1389045283 19p12 19 21973185T> C null T A 517 517 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1275323847 19p12 19 21973184G> A null T I 517 517 missense 0.015 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs760978496 19p12 19 21973180A> T null F L 518 518 missense 0.815 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs772259831 19p12 19 21973179T> A null S C 519 519 missense 0.841 possibly damaging 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed,gnomAD rs111707784 19p12 19 21973178C> A null S I 519 519 2.0E-4 missense 0.741 possibly damaging 0.25 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs772259831 19p12 19 21973179T> G null S R 519 519 missense 0.015 benign 0.61 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed,gnomAD rs111707784 19p12 19 21973178C> G null S T 519 519 2.0E-4 missense 0.07 benign 0.49 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1279706360 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973173C> A null V F 521 521 missense 0.0 benign 0.78 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1279706360 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973173C> G null V L 521 521 missense 0.003 benign 0.66 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1221174941 19p12 19 21973169G> C null S * 522 522 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs780060402 19p12 19 21973167T> C null T A 523 523 missense 0.239 benign 0.97 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs769557306 19p12 19 21973160G> A null T I 525 525 missense 0.946 probably damaging 0.5 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1235280056 19p12 19 21973157G> T null T K 526 526 missense 0.001 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs780844041 19p12 19 21973154T> C null H R 527 527 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs376576266 19p12 19 21973150C> G null K N 528 528 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs777303185 19p12 19 21973149C> T null A T 529 529 missense 0.399 benign 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA rs757937575 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973146T> C null I V 530 530 missense 0.644 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752101139 19p12 19 21973140C> A null A S 532 532 missense 0.09 benign 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752101139 19p12 19 21973140C> T null A T 532 532 missense 0.042 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs973037995 19p12 19 21973133T> A null E V 534 534 missense 0.911 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1167166941 19p12 19 21973127G> A null P L 536 536 missense 0.749 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151216289 19p12 19 21973120T> A null K N 538 538 0.01797 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1024945733 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19p12 19 21973119A> T null C S 539 539 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs10425763 19p12 19 21973116T> C null K E 540 540 0.3476 missense 0.023 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs570396629 19p12 19 21973110A> T null C S 542 542 2.0E-4 missense 0.966 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs773539148 19p12 19 21973109C> T null C Y 542 542 missense 0.964 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs772368508 19p12 19 21973106C> T null G D 543 543 missense 0.326 benign 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1225822922 19p12 19 21973101T> C null T A 545 545 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1345240038 cosmic curated [Cosmic]: prostate, [Cosmic]: urinary_tract cosmic_study:413,cosmic_study:435 19p12 19 21973094A> C null I S 547 547 missense 0.006 benign 1.0 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1253344009 19p12 19 21973091T> C null K R 548 548 missense 0.01 benign 0.74 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs558347925 19p12 19 21973085G> A null S L 550 550 2.0E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148696573 19p12 19 21973082G> T null T N 551 551 0.01158 missense 0.036 benign 0.7 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148696573 19p12 19 21973082G> C null T S 551 551 0.01158 missense 0.036 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1238440971 19p12 19 21973077T> C null T A 553 553 missense 0.284 benign 0.53 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1449409766 19p12 19 21973076G> A null T I 553 553 missense 0.94 probably damaging 0.41 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs769833163 19p12 19 21973074T> C null T A 554 554 missense 0.014 benign 0.75 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed rs745779816 19p12 19 21973073G> A null T I 554 554 missense 0.014 benign 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs902656630 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973070T> C null H R 555 555 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878992305 19p12 19 21973064G> C null A G 557 557 missense 0.3 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878921403 19p12 19 21973065C> A null A S 557 557 missense 0.138 benign 0.28 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878921403 19p12 19 21973065C> T null A T 557 557 missense 0.022 benign 0.24 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs770680505 19p12 19 21973057A> C null H Q 559 559 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs866231907 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973059G> A null H Y 559 559 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878946412 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973056C> A null A S 560 560 missense 0.001 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878946412 19p12 19 21973056C> T null A T 560 560 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs369972536 19p12 19 21973052C> G null G A 561 561 missense 0.211 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1278255490 19p12 19 21973053C> T null G R 561 561 missense 0.444 benign 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs879060240 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973045C> A null K N 563 563 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1407946765 19p12 19 21973043G> A null P L 564 564 missense 0.411 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1450241071 19p12 19 21973036T> A null K N 566 566 missense 0.986 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1432855442 19p12 19 21973034C> T null C Y 567 567 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs879149580 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19p12 19 21973032T> A null K * 568 568 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs879149580 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21973032T> C null K E 568 568 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs778283069 19p12 19 21973029C> A null E * 569 569 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1450017705 19p12 19 21973022C> T null G D 571 571 missense 0.702 possibly damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1253204465 19p12 19 21973023C> T null G S 571 571 missense 0.702 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1450017705 19p12 19 21973022C> A null G V 571 571 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs754281207 19p12 19 21973019T> C null K R 572 572 missense 0.941 probably damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs879203659 19p12 19 21973016G> C null A G 573 573 missense 0.043 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs879130196 19p12 19 21973017C> T null A T 573 573 missense 0.373 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs879203659 19p12 19 21973016G> A null A V 573 573 missense 0.177 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756567209 19p12 19 21973010C> A null S I 575 575 missense 0.019 benign 0.27 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756567209 19p12 19 21973010C> T null S N 575 575 missense 0.0 benign 0.72 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs371451593 19p12 19 21973006C> A null K N 576 576 missense 0.0 benign 0.52 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs371451593 19p12 19 21973006C> G null K N 576 576 missense 0.0 benign 0.52 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs767853175 19p12 19 21973007T> G null K T 576 576 missense 0.0 benign 0.41 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs879098972 19p12 19 21973005A> G null F L 577 577 missense 0.005 benign 0.67 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs774547758 19p12 19 21973004A> G null F S 577 577 missense 0.0 benign 0.96 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs879098972 19p12 19 21973005A> C null F V 577 577 missense 0.047 benign 0.51 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs764058292 19p12 19 21973001G> A null S L 578 578 missense 0.972 probably damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,gnomAD rs191964582 19p12 19 21972999T> G null I L 579 579 2.0E-4 missense 0.014 benign 0.46 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1266352400 19p12 19 21972997G> C null I M 579 579 missense 0.328 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs879056706 19p12 19 21972998A> G null I T 579 579 missense 0.0 benign 0.71 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,gnomAD rs191964582 19p12 19 21972999T> C null I V 579 579 2.0E-4 missense 0.005 benign 0.42 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1452543884 19p12 19 21972996G> A null L F 580 580 missense 0.995 probably damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs768601759 19p12 19 21972989T> G null K T 582 582 missense 0.012 benign 0.6 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,gnomAD rs367608380 19p12 19 21972986T> C null H R 583 583 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1188452439 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972984T> C null K E 584 584 missense 0.302 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1229891849 19p12 19 21972980A> G null V A 585 585 missense 0.005 benign 0.22 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs199604702 19p12 19 21972981C> T null V I 585 585 missense 0.0 benign 0.33 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs747747215 19p12 19 21972977A> G null I T 586 586 missense 0.212 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs771778354 19p12 19 21972978T> C null I V 586 586 missense 0.212 benign 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs754418002 19p12 19 21972974T> G null H P 587 587 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs754418002 19p12 19 21972974T> C null H R 587 587 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756620266 19p12 19 21972971G> A null T I 588 588 missense 0.261 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756620266 19p12 19 21972971G> T null T N 588 588 missense 0.744 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs549794314 19p12 19 21972962T> C null K R 591 591 0.001398 missense 0.941 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs372192464 19p12 19 21972959G> A null P L 592 592 missense 0.595 possibly damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1189577008 19p12 19 21972957A> G null Y H 593 593 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1410088732 19p12 19 21972950C> A null C F 595 595 missense 0.823 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1246446171 19p12 19 21972949A> C null C W 595 595 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1284579643 19p12 19 21972943T> G null E D 597 597 missense 0.853 possibly damaging 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs762962527 19p12 19 21972945C> T null E K 597 597 missense 0.607 possibly damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775492257 19p12 19 21972938C> G null G A 599 599 missense 0.558 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1267295231 19p12 19 21972939C> T null G S 599 599 missense 0.723 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs760602644 19p12 19 21972936T> C null K E 600 600 missense 0.643 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1267739218 19p12 19 21972935T> C null K R 600 600 missense 0.352 benign 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs771837218 19p12 19 21972933C> G null A P 601 601 missense 0.149 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs773909613 19p12 19 21972930A> T null F I 602 602 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs757406154 19p12 19 21972929A> G null F S 602 602 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs773909613 19p12 19 21972930A> C null F V 602 602 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs748749349 19p12 19 21972922C> T null W * 604 604 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs200459967 19p12 19 21972923C> G null W S 604 604 missense 0.005 benign 0.44 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs770477530 19p12 19 21972917G> C null S * 606 606 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs879143491 19p12 19 21972914T> A null N I 607 607 missense 0.358 benign 0.46 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs201994264 19p12 19 21972913G> C null N K 607 607 missense 0.208 benign 0.51 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs879143491 19p12 19 21972914T> C null N S 607 607 missense 0.0 benign 0.88 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs757593079 19p12 19 21972911A> G null L P 608 608 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs878861039 19p12 19 21972907C> A null M I 609 609 missense 0.0 benign 0.56 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs751901614 19p12 19 21972909T> C null M V 609 609 missense 0.0 benign 0.27 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs758580279 19p12 19 21972906C> T null E K 610 610 missense 0.015 benign 0.97 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs758580279 19p12 19 21972906C> G null E Q 610 610 missense 0.124 benign 0.75 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1413455733 19p12 19 21972903G> A null H Y 611 611 missense 0.302 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs367984435 19p12 19 21972897T> C null R G 613 613 missense 0.96 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA rs765288896 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972896C> A null R I 613 613 missense 0.94 probably damaging 0.51 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed rs201427226 19p12 19 21972894T> C null I V 614 614 missense 0.019 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs750333672 19p12 19 21972890T> C null H R 615 615 missense 0.435 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1433964637 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972891G> A null H Y 615 615 missense 0.961 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1490193916 19p12 19 21972888T> A null T S 616 616 missense 0.901 possibly damaging 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1249947548 19p12 19 21972879T> C null K E 619 619 missense 0.166 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs761539543 19p12 19 21972875G> T null P H 620 620 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,gnomAD rs531489425 19p12 19 21972872T> C null Y C 621 621 2.0E-4 missense 0.013 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs762678038 19p12 19 21972869T> G null K T 622 622 missense 0.011 benign 0.13 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775186323 19p12 19 21972867A> C null C G 623 623 missense 0.24 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775186323 19p12 19 21972867A> G null C R 623 623 missense 0.989 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878976009 19p12 19 21972864C> T null E K 624 624 missense 0.0 benign 0.81 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1274179526 19p12 19 21972860T> G null E A 625 625 missense 0.26 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs769396063 19p12 19 21972857C> A null C F 626 626 missense 0.859 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs879005468 19p12 19 21972849T> C null S G 629 629 missense 0.0 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878917425 19p12 19 21972848C> G null S T 629 629 missense 0.0 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs375768315 19p12 19 21972846A> C null F V 630 630 missense 0.887 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1344257690 19p12 19 21972842C> T null S N 631 631 missense 0.003 benign 0.72 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs778197671 19p12 19 21972840T> C null T A 632 632 missense 0.0 benign 0.55 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs879155527 19p12 19 21972839G> T null T K 632 632 missense 0.0 benign 0.39 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1423125424 19p12 19 21972836A> T null F Y 633 633 missense 0.091 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1392017487 19p12 19 21972833G> C null S * 634 634 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1040724883 19p12 19 21972834A> G null S P 634 634 missense 0.959 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs752895103 19p12 19 21972831C> A null V F 635 635 missense 0.086 benign 0.27 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs752895103 19p12 19 21972831C> T null V I 635 635 missense 0.015 benign 0.36 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs16982682 19p12 19 21972828G> C null L V 636 636 0.007388 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs755084978 19p12 19 21972825T> C null T A 637 637 missense 0.011 benign 0.49 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1379612707 19p12 19 21972824G> A null T I 637 637 missense 0.105 benign 0.61 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878887241 19p12 19 21972821T> G null K T 638 638 missense 0.003 benign 0.53 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1302866085 19p12 19 21972818T> C null H R 639 639 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs753868173 19p12 19 21972816T> C null K E 640 640 missense 0.591 possibly damaging 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1048597871 19p12 19 21972814C> G null K N 640 640 missense 0.71 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs879115152 19p12 19 21972812A> G null V A 641 641 missense 0.009 benign 0.26 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs879115152 19p12 19 21972812A> C null V G 641 641 missense 0.058 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs931179931 19p12 19 21972813C> T null V I 641 641 missense 0.003 benign 0.24 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs767371469 19p12 19 21972810T> A null I F 642 642 missense 0.151 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1248198448 19p12 19 21972809A> G null I T 642 642 missense 0.258 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1345393047 19p12 19 21972806T> G null H P 643 643 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs527498161 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972807G> A null H Y 643 643 2.0E-4 missense 0.795 possibly damaging 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs751364402 19p12 19 21972804T> C null T A 644 644 missense 0.005 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1297327377 19p12 19 21972803G> A null T I 644 644 missense 0.199 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs763924394 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972800C> T null G E 645 645 missense 0.179 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs763924394 19p12 19 21972800C> A null G V 645 645 missense 0.263 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1322299923 19p12 19 21972794T> C null K R 647 647 missense 0.352 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs762733581 19p12 19 21972791G> A null P L 648 648 missense 0.079 benign 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs759130176 19p12 19 21972787G> T null Y * 649 649 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs759130176 19p12 19 21972787G> C null Y * 649 649 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775313693 19p12 19 21972789A> C null Y D 649 649 missense 0.961 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs771410670 19p12 19 21972782C> A null C F 651 651 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1228666069 19p12 19 21972783A> G null C R 651 651 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs771410670 19p12 19 21972782C> T null C Y 651 651 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1404721633 19p12 19 21972776T> G null E A 653 653 missense 0.916 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1450006272 19p12 19 21972770C> T null G D 655 655 missense 0.702 possibly damaging 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1469472676 19p12 19 21972771C> T null G S 655 655 missense 0.702 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs370724361 19p12 19 21972768T> A null K * 656 656 3.99E-4 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs377119241 19p12 19 21972766T> A null K N 656 656 3.99E-4 missense 0.982 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs917833635 19p12 19 21972765C> T null A T 657 657 missense 0.362 benign 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs779131887 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 19p12 19 21972761T> C null Y C 658 658 missense 0.634 possibly damaging 0.01 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1471627554 19p12 19 21972762A> C null Y D 658 658 missense 0.271 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed rs749434148 19p12 19 21972759T> C null K E 659 659 missense 0.025 benign 0.57 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1324590185 19p12 19 21972754C> T null W * 660 660 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1360288573 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972753A> G null S P 661 661 missense 0.01 benign 0.23 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1258002674 19p12 19 21972752G> T null S Y 661 661 missense 0.121 benign 0.93 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1201446042 19p12 19 21972749G> A null S L 662 662 missense 0.514 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs780165874 19p12 19 21972746G> T null T N 663 663 missense 0.005 benign 0.47 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs78815715 19p12 19 21972740C> T null S N 665 665 missense 0.005 benign 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs78815715 19p12 19 21972740C> G null S T 665 665 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568444140 19p12 19 21972737T> A null Y F 666 666 missense 0.019 benign 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1279495576 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972735G> A null H Y 667 667 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs763897049 19p12 19 21972729T> G null K Q 669 669 missense 0.202 benign 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,gnomAD rs562451547 19p12 19 21972728T> C null K R 669 669 3.99E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs544242313 19p12 19 21972723G> T null H N 671 671 3.99E-4 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752480688 19p12 19 21972722T> C null H R 671 671 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs759258370 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19p12 19 21972719G> A null T I 672 672 missense 0.89 possibly damaging 0.0 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs759258370 19p12 19 21972719G> C null T S 672 672 missense 0.115 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs539995727 cosmic curated [Cosmic]: NS pubmed:24265154,cosmic_study:526 19p12 19 21972716A> C null V G 673 673 7.99E-4 missense 0.0 benign 1.0 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs558490237 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p12 19 21972717C> T null V I 673 673 3.99E-4 missense 0.196 benign 0.0 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs558490237 19p12 19 21972717C> G null V L 673 673 3.99E-4 missense 0.107 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1423963642 19p12 19 21972713T> C null E G 674 674 missense 0.372 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1473076510 19p12 19 21972714C> G null E Q 674 674 missense 0.753 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375447085 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p12 19 21972708G> A null P S 676 676 missense 0.47 possibly damaging 0.02 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs748528244 19p12 19 21972698C> A null C F 679 679 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs748528244 19p12 19 21972698C> T null C Y 679 679 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1248277490 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972696C> T null E K 680 680 missense 0.47 possibly damaging 0.62 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1210134794 19p12 19 21972695T> A null E V 680 680 missense 0.972 probably damaging 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1282928023 19p12 19 21972691T> G null E D 681 681 missense 0.772 possibly damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199650849 19p12 19 21972693C> G null E Q 681 681 5.99E-4 missense 0.369 benign 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1159010744 19p12 19 21972690A> T null C S 682 682 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs768920395 19p12 19 21972686C> T null G D 683 683 missense 0.456 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs267605386 19p12 19 21972680G> C null A G 685 685 missense 0.159 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,NCI-TCGA,TOPMed rs376886020 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972681C> T null A T 685 685 missense 0.49 possibly damaging 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs267605386 19p12 19 21972680G> A null A V 685 685 missense 0.362 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756248745 19p12 19 21972672G> A null R * 688 688 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756248745 19p12 19 21972672G> C null R G 688 688 missense 0.082 benign 0.31 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs554390876 19p12 19 21972671C> T null R Q 688 688 3.99E-4 missense 0.001 benign 0.72 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs758342936 19p12 19 21972660G> T null L I 692 692 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752607509 19p12 19 21972659A> C null L R 692 692 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs568576272 19p12 19 21972657T> A null I F 693 693 2.0E-4 missense 0.058 benign 0.61 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs753499499 19p12 19 21972656A> G null I T 693 693 missense 0.001 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs568576272 19p12 19 21972657T> C null I V 693 693 2.0E-4 missense 0.015 benign 0.47 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs765911692 19p12 19 21972654T> A null K * 694 694 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs749847294 19p12 19 21972650T> C null H R 695 695 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs760259480 19p12 19 21972651G> A null H Y 695 695 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1474210775 19p12 19 21972645T> C null R G 697 697 missense 0.009 benign 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1241057296 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p12 19 21972644C> A null R I 697 697 missense 0.003 benign 0.2 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1198993760 19p12 19 21972642T> A null I F 698 698 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs768020066 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972641A> G null I T 698 698 missense 0.642 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs866759489 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972639G> A null H Y 699 699 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs201522966 19p12 19 21972636T> C null T A 700 700 missense 0.021 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1277192080 19p12 19 21972631A> T null D E 701 701 missense 0.001 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139351235 19p12 19 21972632T> C null D G 701 701 0.03035 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs375896129 19p12 19 21972633C> T null D N 701 701 missense 0.092 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs375896129 19p12 19 21972633C> A null D Y 701 701 missense 0.342 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775803252 19p12 19 21972629T> G null E A 702 702 missense 0.618 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775803252 19p12 19 21972629T> C null E G 702 702 missense 0.785 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1275617522 19p12 19 21972625T> A null K N 703 703 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA rs781415667 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21972623G> A null P L 704 704 missense 0.172 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs745963768 19p12 19 21972624G> T null P T 704 704 missense 0.309 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs772196425 19p12 19 21972621A> G null Y H 705 705 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs778893103 19p12 19 21972615A> G null C R 707 707 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs754851994 19p12 19 21972611T> C null E G 708 708 missense 0.17 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1365314094 cosmic curated [Cosmic]: prostate cosmic_study:435 19p12 19 21972612C> T null E K 708 708 missense 0.286 benign 0.49 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs754851994 19p12 19 21972611T> A null E V 708 708 missense 0.893 possibly damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs753531779 19p12 19 21972607T> G null E D 709 709 missense 0.143 benign 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs918792042 19p12 19 21972605C> A null C F 710 710 missense 0.603 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs779774303 19p12 19 21972606A> G null C R 710 710 missense 0.244 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs918792042 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19p12 19 21972605C> T null C Y 710 710 missense 0.603 possibly damaging 0.0 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs755657892 19p12 19 21972602C> T null G D 711 711 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,TOPMed rs377009355 19p12 19 21972597T> C null T A 713 713 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs750019779 19p12 19 21972596G> A null T I 713 713 missense 0.005 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs750019779 19p12 19 21972596G> T null T N 713 713 missense 0.007 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,TOPMed rs377009355 19p12 19 21972597T> G null T P 713 713 missense 0.007 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs750019779 19p12 19 21972596G> C null T S 713 713 missense 0.0 benign 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs766989452 19p12 19 21972590C> A null S I 715 715 missense 0.099 benign 0.38 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs766989452 19p12 19 21972590C> T null S N 715 715 missense 0.0 benign 0.8 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,TOPMed,gnomAD rs373773330 19p12 19 21972586C> G null K N 716 716 2.0E-4 missense 0.005 benign 0.33 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1202896855 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 19p12 19 21972584A> G null V A 717 717 missense 0.0 benign 0.46 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191353023 19p12 19 21972585C> A null V F 717 717 0.003794 missense 0.01 benign 0.65 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs752087933 19p12 19 21972581G> A null S L 718 718 missense 0.011 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568443956 19p12 19 21972578G> T null T N 719 719 missense 0.654 possibly damaging 0.93 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs371556421 19p12 19 21972576G> A null L F 720 720 missense 0.933 probably damaging 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs775648474 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21972573T> C null T A 721 721 missense 0.018 benign 0.45 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs202159952 19p12 19 21972572G> A null T I 721 721 missense 0.288 benign 0.46 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1482526277 19p12 19 21972569G> A null T I 722 722 missense 0.0 benign 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs776899649 19p12 19 21972566T> A null H L 723 723 missense 0.343 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs776899649 19p12 19 21972566T> C null H R 723 723 missense 0.212 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs771105333 19p12 19 21972564T> C null K E 724 724 missense 0.048 benign 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187681883 19p12 19 21972560G> C null A G 725 725 0.003195 missense 0.06 benign 0.28 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs747047263 19p12 19 21972561C> A null A S 725 725 missense 0.042 benign 0.54 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs747047263 19p12 19 21972561C> T null A T 725 725 missense 0.042 benign 0.46 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187681883 19p12 19 21972560G> A null A V 725 725 0.003195 missense 0.003 benign 0.36 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs548397854 19p12 19 21972558T> C null I V 726 726 3.99E-4 missense 0.743 possibly damaging 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1385228132 19p12 19 21972555G> C null H D 727 727 missense 0.942 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1432717405 19p12 19 21972554T> C null H R 727 727 missense 0.88 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs878980638 19p12 19 21972552C> T null A T 728 728 missense 0.001 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1371330821 19p12 19 21972543T> C null K E 731 731 missense 0.424 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs755836785 19p12 19 21972539G> A null P L 732 732 missense 0.823 possibly damaging 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs755836785 19p12 19 21972539G> C null P R 732 732 missense 0.884 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372068312 19p12 19 21972535G> C null Y * 733 733 2.0E-4 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1009978124 cosmic curated [Cosmic]: prostate cosmic_study:435 19p12 19 21972534T> C null K E 734 734 missense 0.216 benign 0.36 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1175928812 19p12 19 21972530C> G null C S 735 735 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756778888 19p12 19 21972528T> C null K E 736 736 missense 0.01 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756778888 19p12 19 21972528T> G null K Q 736 736 missense 0.301 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145722631 19p12 19 21972519C> A null G C 739 739 0.01098 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145722631 19p12 19 21972519C> T null G S 739 739 0.01098 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1298102220 19p12 19 21972516T> C null K E 740 740 missense 0.964 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs753162498 19p12 19 21972512G> C null A G 741 741 missense 0.058 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs758826053 19p12 19 21972513C> T null A T 741 741 missense 0.149 benign 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1017828434 19p12 19 21972507T> C null S G 743 743 missense 0.0 benign 0.49 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1017828434 19p12 19 21972507T> G null S R 743 743 missense 0.005 benign 0.78 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs759842766 19p12 19 21972503T> A null K M 744 744 missense 0.295 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs759842766 19p12 19 21972503T> G null K T 744 744 missense 0.036 benign 0.27 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs766660239 19p12 19 21972497G> A null S L 746 746 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1457318317 19p12 19 21972494A> C null I S 747 747 missense 0.001 benign 0.76 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs760853190 19p12 19 21972495T> C null I V 747 747 missense 0.005 benign 0.59 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs768710062 19p12 19 21972489T> A null T S 749 749 missense 0.011 benign 0.49 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1415029845 19p12 19 21972486T> C null K E 750 750 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes rs544180364 19p12 19 21972485T> G null K T 750 750 2.0E-4 missense 0.001 benign 0.67 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1185847455 19p12 19 21972482T> C null H R 751 751 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs536562250 NCI-TCGA Cosmic [Cosmic]: prostate, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS pubmed:24265154,cosmic_study:413,cosmic_study:435,cosmic_study:526 19p12 19 21972480T> C null K E 752 752 missense 0.393 benign 0.1 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775392279 19p12 19 21972476A> G null V A 753 753 missense 0.009 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1427741948 cosmic curated [Cosmic]: NS pubmed:24265154,cosmic_study:526 19p12 19 21972477C> T null V I 753 753 missense 0.001 benign 0.2 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs769503712 19p12 19 21972473A> G null I T 754 754 missense 0.834 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1051348049 19p12 19 21972474T> C null I V 754 754 missense 0.312 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs267605385 19p12 19 21972471G> A null H Y 755 755 missense 0.208 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs745611685 19p12 19 21972468T> C null T A 756 756 missense 0.135 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1321190439 19p12 19 21972467G> T null T N 756 756 missense 0.911 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1325604930 19p12 19 21972465C> T null G R 757 757 missense 0.181 benign 0.13 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,TOPMed,gnomAD rs182104299 19p12 19 21972460C> A null E D 758 758 missense 0.049 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1316235467 19p12 19 21972461T> C null E G 758 758 missense 0.23 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1247924327 19p12 19 21972459T> C null K E 759 759 missense 0.908 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756834152 19p12 19 21972456G> A null P S 760 760 missense 0.184 benign 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs777133906 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 19p12 19 21972453A> T null Y N 761 761 missense 0.996 probably damaging 0.01 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1350999590 19p12 19 21972446C> T null C Y 763 763 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs758994373 19p12 19 21972443T> C null E G 764 764 missense 0.924 probably damaging 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs761407005 19p12 19 21972444C> T null E K 764 764 missense 0.514 possibly damaging 0.7 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs918741057 19p12 19 21972441C> A null E * 765 765 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1384999193 19p12 19 21972439T> A null E D 765 765 missense 0.066 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs918741057 19p12 19 21972441C> T null E K 765 765 missense 0.474 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs753114673 19p12 19 21972434C> T null G D 767 767 missense 0.22 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs765737917 19p12 19 21972432T> C null K E 768 768 missense 0.772 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs544806644 19p12 19 21972429C> T null A T 769 769 missense 0.105 benign 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs368640518 19p12 19 21972426A> C null Y D 770 770 missense 0.271 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1037131205 cosmic curated [Cosmic]: stomach cosmic_study:371 19p12 19 21972425T> A null Y F 770 770 missense 0.0 benign 1.0 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs760978600 19p12 19 21972418C> T null W * 772 772 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs766715279 19p12 19 21972419C> T null W * 772 772 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1227763580 19p12 19 21972417G> A null P S 773 773 missense 0.001 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1175741051 19p12 19 21972411T> C null T A 775 775 missense 0.026 benign 0.85 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs767461195 19p12 19 21972410G> A null T I 775 775 missense 0.043 benign 0.29 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs767461195 19p12 19 21972410G> T null T N 775 775 missense 0.014 benign 0.65 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1381176752 NCI-TCGA Cosmic [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:329,cosmic_study:417 19p12 19 21972408G> T null L I 776 776 missense 0.984 probably damaging 0.02 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1427264537 19p12 19 21972407A> C null L R 776 776 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs761909131 19p12 19 21972405T> C null S G 777 777 missense 0.005 benign 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775309372 19p12 19 21972404C> T null S N 777 777 missense 0.009 benign 0.35 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs745665195 19p12 19 21972400A> T null Y * 778 778 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed rs564913509 19p12 19 21972401T> C null Y C 778 778 2.0E-4 missense 0.121 benign 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed rs564913509 19p12 19 21972401T> A null Y F 778 778 2.0E-4 missense 0.015 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs769711756 19p12 19 21972402A> T null Y N 778 778 missense 0.0 benign 0.49 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs770627435 19p12 19 21972398T> A null H L 779 779 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs770627435 19p12 19 21972398T> G null H P 779 779 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs770627435 19p12 19 21972398T> C null H R 779 779 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,gnomAD rs546175310 19p12 19 21972393T> C null K E 781 781 5.99E-4 missense 0.162 benign 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs572727442 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972392T> A null K I 781 781 5.99E-4 missense 0.003 benign 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs572727442 19p12 19 21972392T> C null K R 781 781 5.99E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1036765556 19p12 19 21972381C> A null G * 785 785 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs371288551 19p12 19 21972380C> T null G E 785 785 2.0E-4 missense 0.715 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1036765556 19p12 19 21972381C> T null G R 785 785 missense 0.577 possibly damaging 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs371288551 19p12 19 21972380C> A null G V 785 785 2.0E-4 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs755478490 19p12 19 21972378C> A null E * 786 786 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1481459855 cosmic curated [Cosmic]: liver cosmic_study:323 19p12 19 21972377T> C null E G 786 786 missense 0.954 probably damaging 0.0 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs755478490 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19p12 19 21972378C> T null E K 786 786 missense 0.31 benign 0.02 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed,gnomAD rs536062549 19p12 19 21972372G> T null P T 788 788 2.0E-4 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs754324278 19p12 19 21972366T> C null K E 790 790 missense 0.312 benign 0.33 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs756457027 19p12 19 21972362C> A null C F 791 791 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs780557120 19p12 19 21972363A> G null C R 791 791 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs750637325 19p12 19 21972359T> A null E V 792 792 missense 0.835 possibly damaging 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs370089265 19p12 19 21972356T> G null E A 793 793 missense 0.973 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs751587249 19p12 19 21972355T> G null E D 793 793 missense 0.267 benign 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,gnomAD rs574810886 19p12 19 21972357C> T null E K 793 793 2.0E-4 missense 0.607 possibly damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1182634155 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972354A> G null C R 794 794 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1182634155 19p12 19 21972354A> T null C S 794 794 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs765152563 19p12 19 21972353C> T null C Y 794 794 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs879137811 cosmic curated [Cosmic]: pancreas cosmic_study:328 19p12 19 21972344C> G null G A 797 797 missense 0.0 benign 1.0 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1480123242 19p12 19 21972345C> G null G R 797 797 missense 0.154 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1055057580 19p12 19 21972339T> C null S G 799 799 missense 0.049 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs986677091 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972338C> A null S I 799 799 missense 0.009 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs986677091 19p12 19 21972338C> T null S N 799 799 missense 0.0 benign 0.57 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs574237227 19p12 19 21972335A> T null M K 800 800 missense 0.0 benign 0.59 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs574237227 19p12 19 21972335A> G null M T 800 800 missense 0.005 benign 0.31 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs971334010 19p12 19 21972336T> C null M V 800 800 missense 0.003 benign 0.23 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs776458776 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972332A> C null F C 801 801 missense 0.563 possibly damaging 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs562482504 cosmic curated [Cosmic]: large_intestine, [Cosmic]: pancreas pubmed:22810696,cosmic_study:328,cosmic_study:375 19p12 19 21972333A> G null F L 801 801 missense 0.001 benign 0.67 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1264573197 19p12 19 21972329G> A null S F 802 802 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs772764673 19p12 19 21972326A> T null I N 803 803 missense 0.001 benign 0.45 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs760422731 19p12 19 21972327T> C null I V 803 803 missense 0.001 benign 0.57 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1305709336 19p12 19 21972323A> G null L P 804 804 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376009484 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972321T> G null T P 805 805 missense 0.645 possibly damaging 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs376009484 19p12 19 21972321T> A null T S 805 805 missense 0.017 benign 0.26 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs976112465 19p12 19 21972320G> C null T S 805 805 missense 0.017 benign 0.26 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs780663484 19p12 19 21972313A> C null H Q 807 807 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs749794314 19p12 19 21972314T> C null H R 807 807 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1032754732 19p12 19 21972310C> G null E D 808 808 missense 0.068 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756565273 cosmic curated [Cosmic]: prostate cosmic_study:435 19p12 19 21972312C> T null E K 808 808 missense 0.0 benign 0.75 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1206426535 19p12 19 21972308A> T null V E 809 809 missense 0.091 benign 0.43 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs750739635 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972309C> T null V I 809 809 missense 0.006 benign 0.28 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1264048854 19p12 19 21972303G> T null H N 811 811 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs889438736 19p12 19 21972302T> C null H R 811 811 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1444964686 19p12 19 21972300T> C null T A 812 812 missense 0.021 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs781271669 19p12 19 21972299G> A null T I 812 812 missense 0.876 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs781271669 19p12 19 21972299G> C null T S 812 812 missense 0.038 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs751646780 19p12 19 21972297C> T null G R 813 813 missense 0.503 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs764137023 19p12 19 21972292C> G null E D 814 814 missense 0.135 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs997818446 19p12 19 21972291T> C null K E 815 815 missense 0.924 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1260603605 19p12 19 21972287G> A null P L 816 816 missense 0.181 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1385353690 19p12 19 21972284T> C null Y C 817 817 missense 0.23 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1313278024 19p12 19 21972279A> G null C R 819 819 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs759509096 19p12 19 21972278C> T null C Y 819 819 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1327149334 19p12 19 21972275T> G null E A 820 820 missense 0.642 possibly damaging 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs753804925 19p12 19 21972270A> G null C R 822 822 missense 0.989 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs766255473 19p12 19 21972269C> T null C Y 822 822 missense 0.644 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1371976831 19p12 19 21972266C> T null G D 823 823 missense 0.964 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1157911240 19p12 19 21972262T> A null K N 824 824 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed rs772994076 19p12 19 21972260G> T null A D 825 825 missense 0.39 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1425066776 19p12 19 21972261C> T null A T 825 825 missense 0.007 benign 0.28 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1393649184 19p12 19 21972255T> C null S G 827 827 missense 0.026 benign 0.29 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs771692593 19p12 19 21972253G> T null S R 827 827 missense 0.015 benign 0.53 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs373937489 19p12 19 21972251C> T null W * 828 828 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1443601191 19p12 19 21972250C> A null W C 828 828 missense 0.345 benign 0.24 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1443601191 19p12 19 21972250C> G null W C 828 828 missense 0.345 benign 0.24 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs773786937 19p12 19 21972246A> G null S P 830 830 missense 0.201 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs768253843 19p12 19 21972242A> T null V D 831 831 missense 0.0 benign 0.67 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1245613708 19p12 19 21972243C> T null V I 831 831 missense 0.003 benign 0.34 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs370804978 19p12 19 21972236C> T null S N 833 833 missense 0.069 benign 0.52 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs941500457 19p12 19 21972230T> A null H L 835 835 missense 0.403 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs941500457 19p12 19 21972230T> C null H R 835 835 missense 0.96 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs770356828 19p12 19 21972228T> C null K E 836 836 missense 0.005 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs770356828 19p12 19 21972228T> G null K Q 836 836 missense 0.005 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs746282325 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21972227T> C null K R 836 836 missense 0.006 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1027897004 19p12 19 21972223T> A null K N 837 837 missense 0.534 possibly damaging 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs781606208 19p12 19 21972222T> A null T S 838 838 missense 0.0 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1225350245 19p12 19 21972218T> A null H L 839 839 missense 0.841 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs757469943 19p12 19 21972216C> A null A S 840 840 missense 0.009 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs961049396 19p12 19 21972212C> A null G V 841 841 missense 0.969 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1405467291 19p12 19 21972209T> G null E A 842 842 missense 0.827 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1297572296 19p12 19 21972210C> T null E K 842 842 missense 0.918 probably damaging 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1404501084 19p12 19 21972204A> G null F L 844 844 missense 0.003 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1419812125 19p12 19 21972203A> G null F S 844 844 missense 0.181 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1181469620 19p12 19 21972199G> C null Y * 845 845 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1169221909 19p12 19 21972201A> C null Y D 845 845 missense 0.91 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs747222143 19p12 19 21972200T> G null Y S 845 845 missense 0.87 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1391758432 19p12 19 21972198T> A null K * 846 846 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1055214903 19p12 19 21972194C> A null C F 847 847 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1055214903 19p12 19 21972194C> G null C S 847 847 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1055214903 19p12 19 21972194C> T null C Y 847 847 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1422274026 19p12 19 21972188G> T null A E 849 849 missense 0.005 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs534184312 19p12 19 21972186A> G null C R 850 850 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200918940 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21972182C> T null G D 851 851 missense 0.607 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,TOPMed,gnomAD rs377270385 19p12 19 21972183C> G null G R 851 851 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,TOPMed,gnomAD rs377270385 19p12 19 21972183C> T null G S 851 851 missense 0.964 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1438693939 19p12 19 21972178T> A null K N 852 852 missense 0.742 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752717388 19p12 19 21972179T> C null K R 852 852 missense 0.562 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs190937794 19p12 19 21972177C> G null A P 853 853 3.99E-4 missense 0.17 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs190937794 19p12 19 21972177C> T null A T 853 853 3.99E-4 missense 0.396 benign 0.24 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs200173286 19p12 19 21972173T> C null Y C 854 854 7.99E-4 missense 0.634 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1439700287 19p12 19 21972083G> A null T I 856 856 missense 0.0 benign 0.42 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1439700287 19p12 19 21972083G> T null T K 856 856 missense 0.0 benign 0.61 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs748295301 19p12 19 21972080A> G null F S 857 857 missense 0.0 benign 0.66 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs778953171 19p12 19 21972077G> A null S L 858 858 missense 0.924 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1488980906 19p12 19 21972074A> T null I N 859 859 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs142000057 19p12 19 21972068G> A null T I 861 861 2.0E-4 missense 0.051 benign 0.43 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs142000057 19p12 19 21972068G> C null T S 861 861 2.0E-4 missense 0.0 benign 0.32 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs757084391 19p12 19 21972066T> C null K E 862 862 missense 0.003 benign 0.95 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs953896604 19p12 19 21972063G> A null H Y 863 863 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs751329811 19p12 19 21972060T> C null K E 864 864 missense 0.771 possibly damaging 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs764772638 19p12 19 21972056A> G null V A 865 865 missense 0.014 benign 0.45 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs764772638 cosmic curated [Cosmic]: ovary cosmic_study:331 19p12 19 21972056A> C null V G 865 865 missense 0.0 benign 0.04 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs373319308 19p12 19 21972057C> T null V I 865 865 missense 0.0 benign 0.59 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs373319308 19p12 19 21972057C> A null V L 865 865 missense 0.007 benign 0.33 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1255467544 19p12 19 21972053A> G null I T 866 866 missense 0.944 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1396335021 cosmic curated [Cosmic]: lung cosmic_study:583 19p12 19 21972050T> C null H R 867 867 missense 0.241 benign 0.03 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs777218538 19p12 19 21972044C> A null G V 869 869 missense 0.779 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs747380783 19p12 19 21972041T> C null E G 870 870 missense 0.09 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs771285968 19p12 19 21972042C> T null E K 870 870 missense 0.047 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs910632163 19p12 19 21972035G> A null P L 872 872 missense 0.864 possibly damaging 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs910632163 19p12 19 21972035G> C null P R 872 872 missense 0.518 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs773563290 19p12 19 21972036G> A null P S 872 872 missense 0.299 benign 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs773563290 19p12 19 21972036G> T null P T 872 872 missense 0.42 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1029430956 19p12 19 21972029T> C null K R 874 874 missense 0.209 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181871198 19p12 19 21972027A> C null C G 875 875 0.001198 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181871198 19p12 19 21972027A> G null C R 875 875 0.001198 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181871198 19p12 19 21972027A> T null C S 875 875 0.001198 missense 0.926 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs896836007 19p12 19 21972026C> T null C Y 875 875 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1301715631 19p12 19 21972023T> C null E G 876 876 missense 0.327 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs748350500 19p12 19 21972021C> T null E K 877 877 missense 0.996 probably damaging 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs779008329 19p12 19 21972018A> G null C R 878 878 missense 0.931 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs779008329 19p12 19 21972018A> T null C S 878 878 missense 0.762 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs749264681 19p12 19 21972014C> T null G D 879 879 missense 0.994 probably damaging 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs768816460 19p12 19 21972015C> T null G S 879 879 missense 0.977 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs749264681 19p12 19 21972014C> A null G V 879 879 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs757134133 19p12 19 21972008G> C null A G 881 881 missense 0.909 probably damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1198702944 19p12 19 21972009C> T null A T 881 881 missense 0.327 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs757134133 19p12 19 21972008G> A null A V 881 881 missense 0.327 benign 0.13 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1255687341 19p12 19 21972005A> G null F S 882 882 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs751456541 19p12 19 21972006A> C null F V 882 882 missense 0.957 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs777686573 19p12 19 21972002T> A null N I 883 883 missense 0.865 possibly damaging 0.26 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs758163213 19p12 19 21972001G> C null N K 883 883 missense 0.023 benign 0.62 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1158730461 19p12 19 21971999C> T null W * 884 884 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1005800175 19p12 19 21971998C> G null W C 884 884 missense 0.973 probably damaging 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1005800175 19p12 19 21971998C> A null W C 884 884 missense 0.973 probably damaging 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1158730461 19p12 19 21971999C> A null W L 884 884 missense 0.712 possibly damaging 0.45 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs759100623 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19p12 19 21971993G> C null S * 886 886 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs759100623 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971993G> A null S L 886 886 missense 0.938 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,gnomAD rs371971811 19p12 19 21971990T> C null N S 887 887 missense 0.003 benign 0.99 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1055730558 19p12 19 21971987A> C null L R 888 888 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369272506 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971983C> T null M I 889 889 missense 0.018 benign 0.62 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs369272506 19p12 19 21971983C> A null M I 889 889 missense 0.018 benign 0.62 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs920864862 19p12 19 21971985T> G null M L 889 889 missense 0.03 benign 0.54 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1223025063 19p12 19 21971984A> G null M T 889 889 missense 0.007 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1232978116 19p12 19 21971981T> C null E G 890 890 missense 0.397 benign 0.46 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,TOPMed,gnomAD rs147587683 19p12 19 21971982C> G null E Q 890 890 0.002796 missense 0.325 benign 0.84 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs569764904 19p12 19 21971978T> C null H R 891 891 2.0E-4 missense 0.804 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1469214876 19p12 19 21971979G> A null H Y 891 891 missense 0.947 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs772398803 19p12 19 21971976T> C null K E 892 892 missense 0.517 possibly damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1285268443 19p12 19 21971972T> C null K R 893 893 missense 0.01 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs762129830 19p12 19 21971969A> C null I S 894 894 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs762129830 19p12 19 21971969A> G null I T 894 894 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1399912839 19p12 19 21971966T> A null H L 895 895 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs768690186 19p12 19 21971964T> C null T A 896 896 missense 0.545 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs768690186 19p12 19 21971964T> G null T P 896 896 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,NCI-TCGA,gnomAD rs191756909 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p12 19 21971963G> C null T S 896 896 2.0E-4 missense 0.329 benign 0.1 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs771039525 cosmic curated [Cosmic]: pancreas cosmic_study:328 19p12 19 21971960C> G null G A 897 897 missense 0.073 benign 0.02 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1430442522 19p12 19 21971957T> C null E G 898 898 missense 0.843 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs777811245 19p12 19 21971954G> T null T K 899 899 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs375425038 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971952G> C null P A 900 900 missense 0.83 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed rs778633175 19p12 19 21971951G> A null P L 900 900 missense 0.521 possibly damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs375425038 19p12 19 21971952G> A null P S 900 900 missense 0.979 probably damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs375425038 19p12 19 21971952G> T null P T 900 900 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs549907859 19p12 19 21971947G> C null Y * 901 901 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs754583633 NCI-TCGA Cosmic [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 19p12 19 21971948T> C null Y C 901 901 missense 0.055 benign 0.01 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs765787515 19p12 19 21971946T> C null K E 902 902 missense 0.912 probably damaging 0.36 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1273352498 19p12 19 21971945T> C null K R 902 902 missense 0.302 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs761213779 19p12 19 21971941A> C null C W 903 903 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs750963930 19p12 19 21971936T> G null E A 905 905 missense 0.956 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs878925034 19p12 19 21971933C> T null C Y 906 906 missense 0.972 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1231603435 19p12 19 21971929G> C null D E 907 907 missense 0.548 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs8108957 19p12 19 21971930T> C null D G 907 907 0.4269 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs762166538 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21971931C> T null D N 907 907 missense 0.467 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs371388100 19p12 19 21971927T> C null K R 908 908 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs763061015 19p12 19 21971924G> T null A D 909 909 missense 0.17 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs367553360 19p12 19 21971922A> G null F L 910 910 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374010593 19p12 19 21971914C> T null W * 912 912 2.0E-4 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374010593 19p12 19 21971914C> A null W C 912 912 2.0E-4 missense 0.854 possibly damaging 0.22 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1169869575 19p12 19 21971913G> A null P S 913 913 missense 0.028 benign 0.86 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1409393289 19p12 19 21971906C> T null S N 915 915 missense 0.01 benign 0.68 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs113409472 19p12 19 21971905G> C null S R 915 915 missense 0.429 benign 0.6 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs113409472 19p12 19 21971905G> T null S R 915 915 missense 0.429 benign 0.6 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs370891830 19p12 19 21971900G> A null T I 917 917 missense 0.036 benign 0.52 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs370891830 19p12 19 21971900G> T null T N 917 917 missense 0.35 benign 0.27 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs748043245 19p12 19 21971901T> G null T P 917 917 missense 0.51 possibly damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1453319149 19p12 19 21971898C> T null E K 918 918 missense 0.005 benign 0.94 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1568443231 19p12 19 21971894T> A null H L 919 919 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs748863902 19p12 19 21971893A> T null H Q 919 919 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1336060550 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971888G> A null A V 921 921 missense 0.01 benign 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs779720962 19p12 19 21971885G> A null T I 922 922 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs779720962 19p12 19 21971885G> C null T S 922 922 missense 0.151 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1449201669 19p12 19 21971880C> T null A T 924 924 missense 0.023 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed,gnomAD rs564851265 19p12 19 21971871T> C null K E 927 927 2.0E-4 missense 0.912 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs1005747789 19p12 19 21971867G> T null P H 928 928 missense 0.969 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1264483117 19p12 19 21971868G> A null P S 928 928 missense 0.91 probably damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs367994927 19p12 19 21971864T> C null Y C 929 929 missense 0.995 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs367994927 19p12 19 21971864T> A null Y F 929 929 missense 0.248 benign 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs768075399 19p12 19 21971862T> C null K E 930 930 missense 0.952 probably damaging 0.4 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752001805 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 19p12 19 21971860T> A null K N 930 930 missense 0.986 probably damaging 0.03 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs752001805 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 19p12 19 21971860T> G null K N 930 930 missense 0.986 probably damaging 0.03 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs375335801 19p12 19 21971861T> G null K T 930 930 missense 0.727 possibly damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1242851713 19p12 19 21971859A> G null C R 931 931 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs750325706 19p12 19 21971858C> T null C Y 931 931 missense 0.907 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs775607533 19p12 19 21971856C> A null E * 932 932 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs775607533 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971856C> T null E K 932 932 missense 0.152 benign 0.64 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs759701835 19p12 19 21971852T> G null E A 933 933 missense 0.851 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1408371459 19p12 19 21971850A> T null C S 934 934 missense 0.981 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1470380865 19p12 19 21971846C> G null G A 935 935 missense 0.786 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1470380865 19p12 19 21971846C> T null G D 935 935 missense 0.167 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1178559525 19p12 19 21971844T> C null K E 936 936 missense 0.924 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1175598192 19p12 19 21971842T> A null K N 936 936 missense 0.691 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs772202565 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418,cosmic_study:583 19p12 19 21971840G> T null A D 937 937 missense 0.396 benign 0.02 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs765088951 19p12 19 21971841C> T null A T 937 937 missense 0.286 benign 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs772202565 19p12 19 21971840G> A null A V 937 937 missense 0.883 possibly damaging 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1182290394 19p12 19 21971835T> C null S G 939 939 missense 0.076 benign 0.36 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs748003265 19p12 19 21971834C> A null S I 939 939 missense 0.019 benign 0.24 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs748003265 19p12 19 21971834C> T null S N 939 939 missense 0.0 benign 0.83 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs774249636 19p12 19 21971831C> A null W L 940 940 missense 0.003 benign 0.71 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs768355125 19p12 19 21971823T> C null R G 943 943 missense 0.025 benign 0.51 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs113038401 19p12 19 21971821T> G null R S 943 943 missense 0.007 benign 0.86 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs879078150 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971814C> T null E K 946 946 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs779681482 19p12 19 21971801G> A null T I 950 950 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1345590329 19p12 19 21971802T> G null T P 950 950 missense 0.09 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs920740077 19p12 19 21971799G> A null H Y 951 951 missense 0.398 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs879020705 19p12 19 21971796C> G null A P 952 952 missense 0.362 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs879020705 19p12 19 21971796C> T null A T 952 952 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1344961968 19p12 19 21971795G> A null A V 952 952 missense 0.091 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1261774791 19p12 19 21971793C> A null G * 953 953 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1241641096 19p12 19 21971792C> T null G E 953 953 missense 0.691 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1261774791 19p12 19 21971793C> T null G R 953 953 missense 0.691 possibly damaging 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs755754793 19p12 19 21971789T> A null E V 954 954 missense 0.209 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs745452583 19p12 19 21971787C> T null E K 955 955 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1395480824 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971783G> T null P H 956 956 missense 0.912 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1395480824 19p12 19 21971783G> C null P R 956 956 missense 0.895 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs560845311 19p12 19 21971784G> T null P T 956 956 missense 0.193 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1480770381 19p12 19 21971775A> G null C R 959 959 missense 0.889 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs757834852 19p12 19 21971774C> G null C S 959 959 missense 0.761 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs757834852 19p12 19 21971774C> T null C Y 959 959 missense 0.378 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752031490 19p12 19 21971771T> C null E G 960 960 missense 0.029 benign 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1427061872 19p12 19 21971769C> A null E * 961 961 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs764622879 19p12 19 21971765C> T null C Y 962 962 missense 0.4 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1159125372 19p12 19 21971758T> A null K N 964 964 missense 0.488 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs758695146 19p12 19 21971757C> T null A T 965 965 missense 0.847 possibly damaging 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs753048023 19p12 19 21971756G> A null A V 965 965 missense 0.396 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1398803030 cosmic curated [Cosmic]: pancreas cosmic_study:328 19p12 19 21971750T> C null N S 967 967 missense 0.021 benign 1.0 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs765612978 19p12 19 21971746C> G null W C 968 968 missense 0.003 benign 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs878896900 19p12 19 21971745A> G null S P 969 969 missense 0.007 benign 0.22 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1263049600 19p12 19 21971737G> T null N K 971 971 missense 0.003 benign 0.85 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1487541686 19p12 19 21971732A> G null M T 973 973 missense 0.0 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs759832973 19p12 19 21971733T> C null M V 973 973 missense 0.0 benign 0.26 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1280846872 19p12 19 21971730C> T null E K 974 974 missense 0.0 benign 0.99 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1329810982 19p12 19 21971726T> C null H R 975 975 missense 0.237 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs776889269 19p12 19 21971724T> C null K E 976 976 missense 0.258 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs766543319 19p12 19 21971722C> G null K N 976 976 missense 0.362 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1361896953 19p12 19 21971721T> C null R G 977 977 missense 0.009 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs760757323 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 19p12 19 21971720C> A null R I 977 977 missense 0.001 benign 0.18 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs760757323 19p12 19 21971720C> T null R K 977 977 missense 0.003 benign 0.36 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs940994432 19p12 19 21971717A> G null I T 978 978 missense 0.286 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs377745338 19p12 19 21971714T> A null H L 979 979 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs377745338 19p12 19 21971714T> G null H P 979 979 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs267605384 19p12 19 21971715G> A null H Y 979 979 missense 0.288 benign 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs748293882 19p12 19 21971712T> C null T A 980 980 missense 0.018 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs540259312 19p12 19 21971708C> G null G A 981 981 2.0E-4 missense 0.041 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs540259312 19p12 19 21971708C> T null G E 981 981 2.0E-4 missense 0.178 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs540259312 19p12 19 21971708C> A null G V 981 981 2.0E-4 missense 0.262 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs779233274 19p12 19 21971703T> C null K E 983 983 missense 0.62 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs769480170 19p12 19 21971700G> A null P S 984 984 missense 0.384 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs769480170 19p12 19 21971700G> T null P T 984 984 missense 0.184 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs9710410 19p12 19 21971697A> G null Y H 985 985 missense 0.41 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs780777236 19p12 19 21971693T> A null K I 986 986 missense 0.309 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs780777236 19p12 19 21971693T> C null K R 986 986 missense 0.139 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs770380766 19p12 19 21971688C> T null E K 988 988 missense 0.096 benign 0.56 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1363214993 19p12 19 21971687T> A null E V 988 988 missense 0.939 probably damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1472212753 19p12 19 21971685C> T null E K 989 989 missense 0.213 benign 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1472212753 19p12 19 21971685C> G null E Q 989 989 missense 0.831 possibly damaging 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1373133417 19p12 19 21971682A> T null C S 990 990 missense 0.706 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs746461940 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971679C> T null G S 991 991 missense 0.973 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs778156623 19p12 19 21971678C> A null G V 991 991 missense 0.907 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1165245285 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p12 19 21971674T> G null K N 992 992 missense 0.925 probably damaging 0.01 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs758931043 19p12 19 21971673T> C null S G 993 993 missense 0.005 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs753179642 19p12 19 21971672C> G null S T 993 993 missense 0.007 benign 0.3 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878956811 19p12 19 21971667T> A null S C 995 995 missense 0.034 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878956811 19p12 19 21971667T> C null S G 995 995 missense 0.3 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1471927140 19p12 19 21971666C> T null S N 995 995 missense 0.005 benign 0.79 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs202182044 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971663G> T null T K 996 996 missense 0.176 benign 0.82 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs202182044 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971663G> A null T M 996 996 missense 0.551 possibly damaging 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes rs186911091 19p12 19 21971660A> T null F Y 997 997 2.0E-4 missense 0.688 possibly damaging 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs760671665 19p12 19 21971657G> T null S * 998 998 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs753343782 19p12 19 21971658A> G null S P 998 998 missense 0.092 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs762920895 19p12 19 21971654A> T null I N 999 999 missense 0.019 benign 0.51 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs762920895 19p12 19 21971654A> G null I T 999 999 missense 0.014 benign 0.55 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181390472 19p12 19 21971655T> C null I V 999 999 5.99E-4 missense 0.019 benign 0.57 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs878984629 19p12 19 21971652G> C null L V 1000 1000 missense 0.873 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs879078644 19p12 19 21971649T> C null T A 1001 1001 missense 0.026 benign 0.42 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs377465009 19p12 19 21971648G> C null T S 1001 1001 missense 0.028 benign 0.28 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1404363847 19p12 19 21971646T> C null K E 1002 1002 missense 0.074 benign 0.7 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1172225536 19p12 19 21971642T> C null H R 1003 1003 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs759288497 19p12 19 21971643G> A null H Y 1003 1003 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1249648942 19p12 19 21971640T> C null K E 1004 1004 missense 0.414 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,gnomAD rs556382058 19p12 19 21971636A> G null V A 1005 1005 5.99E-4 missense 0.074 benign 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,gnomAD rs556382058 19p12 19 21971636A> C null V G 1005 1005 5.99E-4 missense 0.024 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,gnomAD rs574705171 19p12 19 21971637C> T null V I 1005 1005 5.99E-4 missense 0.019 benign 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1479240360 19p12 19 21971632A> C null I M 1006 1006 missense 0.805 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs770559149 19p12 19 21971633A> G null I T 1006 1006 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs868227718 19p12 19 21971631G> A null H Y 1007 1007 missense 0.764 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1245320484 19p12 19 21971628T> C null T A 1008 1008 missense 0.076 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs746558371 19p12 19 21971627G> T null T N 1008 1008 missense 0.914 probably damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1438635085 19p12 19 21971625C> T null G R 1009 1009 missense 0.325 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs372604682 19p12 19 21971624C> A null G V 1009 1009 missense 0.785 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs984171003 19p12 19 21971619T> A null K * 1011 1011 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs984171003 19p12 19 21971619T> C null K E 1011 1011 missense 0.638 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs779511678 19p12 19 21971615G> A null P L 1012 1012 missense 0.1 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs748641809 19p12 19 21971616G> A null P S 1012 1012 missense 0.124 benign 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs201135671 19p12 19 21971611G> C null Y * 1013 1013 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs201135671 19p12 19 21971611G> T null Y * 1013 1013 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs952416688 19p12 19 21971609T> A null K I 1014 1014 missense 0.939 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1272890123 19p12 19 21971608T> A null K N 1014 1014 missense 0.59 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs754185592 19p12 19 21971606C> T null C Y 1015 1015 missense 0.93 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs189737877 19p12 19 21971601C> T null E K 1017 1017 2.0E-4 missense 0.195 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs756342766 19p12 19 21971588G> T null A D 1021 1021 missense 0.897 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs369535187 19p12 19 21971585T> C null Y C 1022 1022 missense 0.854 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs369535187 19p12 19 21971585T> A null Y F 1022 1022 missense 0.001 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs750512628 19p12 19 21971586A> G null Y H 1022 1022 missense 0.796 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs761835210 19p12 19 21971583T> C null K E 1023 1023 missense 0.352 benign 0.42 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs879197552 19p12 19 21971581C> G null K N 1023 1023 missense 0.01 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs752664452 19p12 19 21971578C> T null W * 1024 1024 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs752664452 19p12 19 21971578C> A null W C 1024 1024 missense 0.038 benign 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs765094706 19p12 19 21971577A> G null S P 1025 1025 missense 0.007 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs776397803 19p12 19 21971570G> T null T N 1027 1027 missense 0.034 benign 0.8 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1457415038 19p12 19 21971568G> A null L F 1028 1028 missense 0.994 probably damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1243791171 19p12 19 21971567A> T null L H 1028 1028 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs760343628 19p12 19 21971564C> T null S N 1029 1029 missense 0.352 benign 0.37 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs878878115 19p12 19 21971563A> T null S R 1029 1029 missense 0.021 benign 0.23 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs766013170 19p12 19 21971565T> G null S R 1029 1029 missense 0.021 benign 0.23 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1205452794 19p12 19 21971560A> T null Y * 1030 1030 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1316200209 19p12 19 21971562A> T null Y N 1030 1030 missense 0.007 benign 0.48 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs527278333 19p12 19 21971558T> A null H L 1031 1031 missense 0.908 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1276349080 19p12 19 21971559G> T null H N 1031 1031 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs527278333 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21971558T> C null H R 1031 1031 missense 0.957 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs755334030 19p12 19 21971552T> A null K I 1033 1033 missense 0.018 benign 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1311077618 19p12 19 21971551T> A null K N 1033 1033 missense 0.533 possibly damaging 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1444090593 19p12 19 21971547G> T null H N 1035 1035 missense 0.933 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs771632109 19p12 19 21971544T> C null T A 1036 1036 missense 0.04 benign 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1336850574 19p12 19 21971543G> A null T I 1036 1036 missense 0.305 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs564668302 19p12 19 21971540A> C null V G 1037 1037 5.99E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs373668822 19p12 19 21971541C> T null V I 1037 1037 missense 0.526 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs373668822 19p12 19 21971541C> A null V L 1037 1037 missense 0.352 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs769224193 19p12 19 21971538C> T null E K 1038 1038 missense 0.103 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1401717775 19p12 19 21971535T> A null K * 1039 1039 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,gnomAD rs369444555 19p12 19 21971534T> C null K R 1039 1039 missense 0.969 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs749724720 19p12 19 21971532G> A null P S 1040 1040 missense 0.124 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184412193 19p12 19 21971529A> G null Y H 1041 1041 0.003195 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1470707486 19p12 19 21971526T> C null K E 1042 1042 missense 0.57 possibly damaging 0.39 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs892529357 19p12 19 21971524T> G null K N 1042 1042 missense 0.594 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1482281653 19p12 19 21971522C> T null C Y 1043 1043 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs756343430 19p12 19 21971517C> G null E Q 1045 1045 missense 0.991 probably damaging 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs746127767 19p12 19 21971510C> T null G D 1047 1047 missense 0.687 possibly damaging 0.05 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1237638866 19p12 19 21971507T> A null K I 1048 1048 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1364291168 19p12 19 21971506T> A null K N 1048 1048 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs879149203 19p12 19 21971504C> G null G A 1049 1049 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs879149203 19p12 19 21971504C> T null G D 1049 1049 missense 0.429 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs760359608 19p12 19 21971505C> G null G R 1049 1049 missense 0.533 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs760359608 19p12 19 21971505C> T null G S 1049 1049 missense 0.039 benign 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs879149203 19p12 19 21971504C> A null G V 1049 1049 missense 0.219 benign 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs754905865 19p12 19 21971498A> G null V A 1051 1051 missense 0.063 benign 0.54 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs754905865 19p12 19 21971498A> C null V G 1051 1051 missense 0.103 benign 0.32 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs765217531 19p12 19 21971499C> T null V I 1051 1051 missense 0.018 benign 0.36 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs753616049 19p12 19 21971495A> T null M K 1052 1052 missense 0.0 benign 0.23 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs753616049 19p12 19 21971495A> G null M T 1052 1052 missense 0.001 benign 0.19 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs766173164 19p12 19 21971492A> G null F S 1053 1053 missense 0.028 benign 0.83 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1432080953 19p12 19 21971489G> A null S L 1054 1054 missense 0.174 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372100985 19p12 19 21971487T> C null I V 1055 1055 2.0E-4 missense 0.146 benign 0.55 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1366434498 19p12 19 21971484G> A null L F 1056 1056 missense 0.626 possibly damaging 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs772946789 19p12 19 21971483A> G null L P 1056 1056 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs767209057 19p12 19 21971480G> C null A G 1057 1057 missense 0.047 benign 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs878937881 19p12 19 21971481C> T null A T 1057 1057 missense 0.001 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs932609876 19p12 19 21971474T> C null H R 1059 1059 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1265181797 19p12 19 21971472T> C null K E 1060 1060 missense 0.55 possibly damaging 0.15 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs369717736 19p12 19 21971471T> C null K R 1060 1060 missense 0.618 possibly damaging 0.27 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs769349076 19p12 19 21971466T> C null I V 1062 1062 missense 0.219 benign 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1223295340 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971462T> A null H L 1063 1063 missense 0.91 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1265730660 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 19p12 19 21971463G> A null H Y 1063 1063 missense 0.293 benign 0.02 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs754259797 19p12 19 21971456C> T null G E 1065 1065 missense 0.618 possibly damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 NCI-TCGA,gnomAD rs754259797 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21971456C> A null G V 1065 1065 missense 0.618 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1342954121 19p12 19 21971454C> A null E * 1066 1066 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200646332 19p12 19 21971447A> T null L H 1068 1068 5.99E-4 missense 0.021 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200646332 cosmic curated [Cosmic]: NS, [Cosmic]: cervix, [Cosmic]: lung pubmed:24265154,cosmic_study:415,cosmic_study:417,cosmic_study:526 19p12 19 21971447A> G null L P 1068 1068 5.99E-4 missense 0.001 benign 1.0 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs757458948 19p12 19 21971443G> C null Y * 1069 1069 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1406799981 19p12 19 21971444T> A null Y F 1069 1069 missense 0.966 probably damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs747158358 19p12 19 21971442T> C null K E 1070 1070 missense 0.455 possibly damaging 0.39 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs777799476 19p12 19 21971438C> A null C F 1071 1071 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs777799476 19p12 19 21971438C> T null C Y 1071 1071 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs534261282 19p12 19 21971436C> A null E * 1072 1072 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs534261282 19p12 19 21971436C> T null E K 1072 1072 missense 0.382 benign 0.88 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs534261282 19p12 19 21971436C> G null E Q 1072 1072 missense 0.96 probably damaging 0.23 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,gnomAD rs546252073 19p12 19 21971431T> A null E D 1073 1073 2.0E-4 missense 0.367 benign 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed,gnomAD rs180702988 19p12 19 21971433C> T null E K 1073 1073 2.0E-4 missense 0.117 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed,gnomAD rs180702988 19p12 19 21971433C> G null E Q 1073 1073 2.0E-4 missense 0.637 possibly damaging 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1477405099 19p12 19 21971430A> T null C S 1074 1074 missense 0.044 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs755939606 19p12 19 21971429C> T null C Y 1074 1074 missense 0.944 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,gnomAD rs750124795 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971426C> T null G D 1075 1075 missense 0.239 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs767333345 19p12 19 21971421C> T null A T 1077 1077 missense 0.956 probably damaging 0.18 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,TOPMed,gnomAD rs373896262 19p12 19 21971420G> A null A V 1077 1077 missense 0.97 probably damaging 0.13 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs762422202 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19p12 19 21971417T> C null Y C 1078 1078 missense 0.878 possibly damaging 0.0 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs762422202 19p12 19 21971417T> A null Y F 1078 1078 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1319382389 19p12 19 21971414T> G null K T 1079 1079 missense 0.049 benign 0.61 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1238079096 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung cosmic_study:418 19p12 19 21971411C> T null W * 1080 1080 missense 1 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1490747701 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971408G> A null P L 1081 1081 missense 0.08 benign 0.62 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1374656049 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971409G> A null P S 1081 1081 missense 0.005 benign 0.78 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs751168338 19p12 19 21971405G> T null S * 1082 1082 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs751168338 19p12 19 21971405G> A null S L 1082 1082 missense 0.147 benign 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,NCI-TCGA,TOPMed,gnomAD rs763724211 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971402G> A null T I 1083 1083 missense 0.03 benign 0.28 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs762332804 19p12 19 21971397T> C null R G 1085 1085 missense 0.105 benign 0.2 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs770143458 19p12 19 21971396C> A null R I 1085 1085 missense 0.012 benign 0.61 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs560585093 cosmic curated [Cosmic]: liver cosmic_study:323 19p12 19 21971395T> A null R S 1085 1085 2.0E-4 missense 0.012 benign 0.66 tolerated 1 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs770143458 19p12 19 21971396C> G null R T 1085 1085 missense 0.012 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs747209277 19p12 19 21971392A> T null Y * 1086 1086 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs771183438 19p12 19 21971393T> C null Y C 1086 1086 missense 0.816 possibly damaging 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC rs776855895 19p12 19 21971394A> T null Y N 1086 1086 missense 0.201 benign 0.49 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs772168571 19p12 19 21971385T> C null K E 1089 1089 missense 0.258 benign 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs748109453 19p12 19 21971384T> A null K I 1089 1089 missense 0.003 benign 0.11 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs748109453 19p12 19 21971384T> C null K R 1089 1089 missense 0.362 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1465009307 19p12 19 21971379G> T null H N 1091 1091 missense 0.043 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1378085623 19p12 19 21971378T> G null H P 1091 1091 missense 0.889 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1378085623 19p12 19 21971378T> C null H R 1091 1091 missense 0.282 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs780050434 19p12 19 21971372C> T null G E 1093 1093 missense 0.963 probably damaging 0.04 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs780050434 19p12 19 21971372C> A null G V 1093 1093 missense 0.951 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs981415230 19p12 19 21971368C> A null E D 1094 1094 missense 0.724 possibly damaging 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs980929841 19p12 19 21971366T> G null K T 1095 1095 missense 0.881 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs755989311 19p12 19 21971363G> T null P H 1096 1096 missense 0.025 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs755989311 19p12 19 21971363G> A null P L 1096 1096 missense 0.028 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1458751313 19p12 19 21971364G> T null P T 1096 1096 missense 0.184 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1235800986 19p12 19 21971361A> T null Y N 1097 1097 missense 0.792 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs781098985 19p12 19 21971357T> C null K R 1098 1098 missense 0.771 possibly damaging 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1258222283 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971355A> G null C R 1099 1099 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1239111198 19p12 19 21971354C> T null C Y 1099 1099 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs749913412 19p12 19 21971351T> C null E G 1100 1100 missense 0.169 benign 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1311967265 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971352C> T null E K 1100 1100 missense 0.395 benign 0.87 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs867359725 19p12 19 21971349C> T null E K 1101 1101 missense 0.312 benign 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs751292999 19p12 19 21971346A> G null C R 1102 1102 missense 0.986 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs751292999 19p12 19 21971346A> T null C S 1102 1102 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1242551480 19p12 19 21971345C> T null C Y 1102 1102 missense 0.553 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1374817536 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21971343C> A null G C 1103 1103 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs763775354 19p12 19 21971342C> A null G V 1103 1103 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs762540497 19p12 19 21971336G> C null A G 1105 1105 missense 0.234 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1396621810 19p12 19 21971337C> T null A T 1105 1105 missense 0.73 possibly damaging 0.17 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1376835466 19p12 19 21971333A> T null F Y 1106 1106 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs771306126 19p12 19 21971327G> T null T K 1108 1108 missense 0.176 benign 0.62 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs771306126 19p12 19 21971327G> A null T M 1108 1108 missense 0.737 possibly damaging 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1442423313 19p12 19 21971321G> C null S * 1110 1110 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1177476880 19p12 19 21971322A> T null S T 1110 1110 missense 0.989 probably damaging 0.21 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ExAC,TOPMed,gnomAD rs562723135 19p12 19 21971319T> C null I V 1111 1111 2.0E-4 missense 0.039 benign 0.51 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs375630567 19p12 19 21971313T> C null T A 1113 1113 missense 0.406 benign 0.31 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1164435210 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21971312G> A null T I 1113 1113 missense 0.198 benign 0.25 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed,gnomAD rs375630567 19p12 19 21971313T> G null T P 1113 1113 missense 0.905 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1164435210 19p12 19 21971312G> C null T S 1113 1113 missense 0.09 benign 0.37 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs769806731 19p12 19 21971309T> C null K R 1114 1114 missense 0.01 benign 0.64 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs781240215 19p12 19 21971306T> G null H P 1115 1115 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs781240215 19p12 19 21971306T> C null H R 1115 1115 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,TOPMed rs77038732 19p12 19 21971307G> A null H Y 1115 1115 2.0E-4 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs751344467 19p12 19 21971304T> C null K E 1116 1116 missense 0.263 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1394187467 19p12 19 21971292T> C null T A 1120 1120 missense 0.87 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1298609163 19p12 19 21971281T> G null K N 1123 1123 missense 0.622 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1358231943 19p12 19 21971279G> C null P R 1124 1124 missense 0.975 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs777627214 19p12 19 21971280G> T null P T 1124 1124 missense 0.208 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs889097700 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19p12 19 21971276T> C null Y C 1125 1125 missense 0.31 benign 0.04 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1472872165 19p12 19 21971277A> G null Y H 1125 1125 missense 0.972 probably damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs752291735 19p12 19 21971274T> C null K E 1126 1126 missense 0.825 possibly damaging 0.54 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1219253170 19p12 19 21971270_21971271de l null C * 1127 1127 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs764631357 19p12 19 21971269A> T null C * 1127 1127 stop gained 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1186096528 19p12 19 21971270C> T null C Y 1127 1127 missense 0.675 possibly damaging 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs754460542 19p12 19 21971268C> T null E K 1128 1128 missense 0.421 benign 0.83 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1273066253 19p12 19 21971261C> T null C Y 1130 1130 missense 0.497 possibly damaging 0.03 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1285650109 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19p12 19 21971258C> A null G V 1131 1131 missense 0.619 possibly damaging 0.0 deleterious 1 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1198563888 19p12 19 21971252G> T null A D 1133 1133 missense 0.049 benign 0.09 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1198563888 19p12 19 21971252G> C null A G 1133 1133 missense 0.669 possibly damaging 0.05 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs761039971 19p12 19 21971246C> T null S N 1135 1135 missense 0.0 benign 0.74 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1008736322 19p12 19 21971245G> C null S R 1135 1135 missense 0.221 benign 0.54 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs767845331 19p12 19 21971239T> G null L F 1137 1137 missense 0.009 benign 0.74 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs767845331 19p12 19 21971239T> A null L F 1137 1137 missense 0.009 benign 0.74 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs773548913 19p12 19 21971240A> G null L S 1137 1137 missense 0.015 benign 0.89 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs774535554 19p12 19 21971234A> T null V D 1139 1139 missense 0.352 benign 0.68 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs761905755 19p12 19 21971235C> T null V I 1139 1139 missense 0.039 benign 0.39 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs768653374 19p12 19 21971232A> G null F L 1140 1140 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs749318686 19p12 19 21971228C> G null S T 1141 1141 missense 0.003 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1460407417 19p12 19 21971223G> A null H Y 1143 1143 missense 0.937 probably damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1471946145 19p12 19 21971219T> C null K R 1144 1144 missense 0.664 possibly damaging 0.25 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs776725357 19p12 19 21971217T> C null K E 1145 1145 missense 0.007 benign 0.16 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs770982526 19p12 19 21971216T> A null K I 1145 1145 missense 0.0 benign 0.12 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1196455255 19p12 19 21971215T> G null K N 1145 1145 missense 0.021 benign 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1029035324 19p12 19 21971213A> G null I T 1146 1146 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1029023879 19p12 19 21971211G> C null H D 1147 1147 missense 0.838 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed,gnomAD rs1029023879 19p12 19 21971211G> T null H N 1147 1147 missense 0.16 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1262885608 19p12 19 21971210T> C null H R 1147 1147 missense 0.881 possibly damaging 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1199981131 19p12 19 21971207G> A null T I 1148 1148 missense 0.432 benign 0.02 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs746869399 19p12 19 21971205C> T null G R 1149 1149 missense 0.371 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1265468292 19p12 19 21971204C> A null G V 1149 1149 missense 0.399 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1423473499 19p12 19 21970738A> T null V D 1150 1150 missense 0.103 benign 0.4 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs757189243 19p12 19 21970732T> C null N S 1152 1152 missense 0.005 benign 0.41 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs1358683543 19p12 19 21970730G> A null P S 1153 1153 missense 0.0 benign 0.1 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs751942588 19p12 19 21970720T> C null H R 1156 1156 missense 0.0 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed rs369562799 19p12 19 21970709G> T null H N 1160 1160 missense 0.0 benign 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ESP,ExAC,TOPMed rs369562799 19p12 19 21970709G> A null H Y 1160 1160 missense 0.007 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs752873289 19p12 19 21970706C> G null A P 1161 1161 missense 0.905 possibly damaging 0.01 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,TOPMed,gnomAD rs752873289 19p12 19 21970706C> T null A T 1161 1161 missense 0.143 benign 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 Ensembl rs896141945 19p12 19 21970702C> T null G E 1162 1162 missense 0.015 benign 0.06 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs765431222 19p12 19 21970703C> T null G R 1162 1162 missense 0.015 benign 0.08 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2359812 19p12 19 21970693A> T null L H 1165 1165 0.4004 missense 0.769 possibly damaging 0.14 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2359812 19p12 19 21970693A> G null L P 1165 1165 0.4004 missense 0.476 possibly damaging 1.0 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2359812 19p12 19 21970693A> C null L R 1165 1165 0.4004 missense 0.476 possibly damaging 0.13 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1276284506 19p12 19 21970691A> C null Y D 1166 1166 missense 0.0 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1276284506 19p12 19 21970691A> G null Y H 1166 1166 missense 0.015 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 TOPMed rs983446444 19p12 19 21970686T> A null K N 1167 1167 missense 0.006 benign 0.0 deleterious 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1353993167 19p12 19 21970687T> C null K R 1167 1167 missense 0.16 benign 0.07 tolerated 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1310914812 19p12 19 21970685A> T null * R 1168 1168 stop lost 0 A0A075B7G2 ZNF208 Zinc finger protein 208 gnomAD rs1310914812 19p12 19 21970685A> G null * R 1168 1168 stop lost 0 A0A075B7G2 ZNF208 Zinc finger protein 208 ExAC,gnomAD rs774191008 19p12 19 21970683T> C null * W 1168 1168 stop lost 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs535868089 4p16.3 4 86060C> T null H Y 3 3 2.0E-4 missense 0.001 benign 0.35 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782281954 4p16.3 4 86063C> A null L I 4 4 missense 0.737 possibly damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs781994114 4p16.3 4 86066A> T null T S 5 5 missense 0.0 benign 0.26 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801161 4p16.3 4 86067C> G null T S 5 5 missense 0.0 benign 0.26 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782355591 4p16.3 4 86069C> G null Q E 6 6 missense 0.0 benign 0.5 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1481912292 4p16.3 4 86073A> G null H R 7 7 missense 0.622 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1212790168 4p16.3 4 86072C> T null H Y 7 7 missense 0.625 possibly damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 dbSNP rs1553801175 4p16.3 4 86076de l null T null 8 8 frameshift 0 A0A075B7G3 ZNF595 Zinc finger protein 595 dbSNP rs1553801178 4p16.3 4 86078_86079ins A null G null 9 9 frameshift 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1273482334 4p16.3 4 86079G> T null G V 9 9 missense 0.027 benign 0.15 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375945394 4p16.3 4 86082T> A null I N 10 10 0.001198 missense 0.156 benign 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375945394 4p16.3 4 86082T> C null I T 10 10 0.001198 missense 0.003 benign 0.07 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs74386108 4p16.3 4 86084C> A null H N 11 11 missense 0.772 possibly damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801188 4p16.3 4 86088C> G null A G 12 12 missense 0.154 benign 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801198 4p16.3 4 86091G> A null G E 13 13 missense 0.97 probably damaging 0.06 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801195 4p16.3 4 86090G> A null G R 13 13 missense 0.977 probably damaging 0.12 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801198 4p16.3 4 86091G> T null G V 13 13 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801203 4p16.3 4 86093G> T null E * 14 14 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801205 4p16.3 4 86094A> G null E G 14 14 missense 0.031 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801216 4p16.3 4 86096A> G null K E 15 15 missense 0.0 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801221 4p16.3 4 86097A> T null K I 15 15 missense 0.058 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1243372490 4p16.3 4 86098A> C null K N 15 15 missense 0.015 benign 0.07 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801221 4p16.3 4 86097A> G null K R 15 15 missense 0.003 benign 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782065353 4p16.3 4 86099C> G null P A 16 16 missense 0.715 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782691546 4p16.3 4 86100C> A null P H 16 16 missense 0.98 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782691546 4p16.3 4 86100C> T null P L 16 16 missense 0.976 probably damaging 0.08 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782065353 4p16.3 4 86099C> T null P S 16 16 missense 0.906 possibly damaging 0.07 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782065353 4p16.3 4 86099C> A null P T 16 16 missense 0.941 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1560094384 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 4p16.3 4 86104C> A null Y * 17 17 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782780952 4p16.3 4 86103A> G null Y C 17 17 missense 0.0 benign 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs199795535 4p16.3 4 86102T> G null Y D 17 17 0.001198 missense 0.089 benign 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782780952 4p16.3 4 86103A> T null Y F 17 17 missense 0.007 benign 0.23 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs199795535 4p16.3 4 86102T> C null Y H 17 17 0.001198 missense 0.127 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs199795535 4p16.3 4 86102T> A null Y N 17 17 0.001198 missense 0.062 benign 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782780952 4p16.3 4 86103A> C null Y S 17 17 missense 0.011 benign 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs113906450 4p16.3 4 86109G> T null C F 19 19 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs201776905 4p16.3 4 86108T> A null C S 19 19 missense 0.902 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs112290390 4p16.3 4 86114A> G null K E 21 21 missense 0.005 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs928813284 4p16.3 4 86115A> C null K T 21 21 missense 0.16 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801245 4p16.3 4 86117T> C null C R 22 22 missense 0.954 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs558699720 4p16.3 4 86121G> C null G A 23 23 missense 0.01 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs558699720 4p16.3 4 86121G> A null G D 23 23 missense 0.111 benign 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs558699720 4p16.3 4 86121G> T null G V 23 23 missense 0.303 benign 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1370327029 4p16.3 4 86123A> G null K E 24 24 missense 0.756 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781812852 4p16.3 4 86124A> C null K T 24 24 missense 0.909 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1308933450 4p16.3 4 86126G> A null A T 25 25 missense 0.947 probably damaging 0.16 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs201008310 4p16.3 4 86129T> C null F L 26 26 missense 0.159 benign 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1553801259 4p16.3 4 86131_86132insTAATAGGTCCACATCACTTAG T null N * 27 27 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs782176283 4p16.3 4 86132_86145delinsTAATAGGTCCACA T null N * 27 31 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs74490941 4p16.3 4 86133A> T null N I 27 27 0.0 missense 0.759 possibly damaging 0.18 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,gnomAD rs78362263 4p16.3 4 86134T> A null N K 27 27 0.0 missense 0.021 benign 0.24 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782538127 4p16.3 4 86134_86135delinsA G null N KG 27 28 missense 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs74490941 4p16.3 4 86133A> G null N S 27 27 0.0 missense 0.225 benign 0.58 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1553801264 4p16.3 4 86133_86153delinsCAGGGTCCACAATCCACTGAAT G null N T 27 27 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs74490941 4p16.3 4 86133A> C null N T 27 27 0.0 missense 0.38 benign 0.22 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs201926921 4p16.3 4 86132A> T null N Y 27 27 missense 0.759 possibly damaging 0.16 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs77715101 4p16.3 4 86135A> G null R G 28 28 0.0 missense 0.279 benign 0.29 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782616166 4p16.3 4 86137G> T null R S 28 28 missense 0.279 benign 0.47 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs1553801280 4p16.3 4 86133_86136du p null S * 29 29 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801293 4p16.3 4 86138_86139insA A null S * 29 29 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782325659 4p16.3 4 86139C> T null S F 29 29 missense 0.839 possibly damaging 0.42 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782212133 4p16.3 4 86138T> C null S P 29 29 missense 0.456 possibly damaging 0.17 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782325659 4p16.3 4 86139C> A null S Y 29 29 missense 0.839 possibly damaging 0.43 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs17857098 4p16.3 4 86145C> G null S * 31 31 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782019542 4p16.3 4 86144_86153delinsATCCACTGAAT G null S I 31 31 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs17857098 4p16.3 4 86145C> T null S L 31 31 missense 0.092 benign 0.31 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs386670357 4p16.3 4 86144_86146delinsGT T null S V 31 31 missense 0.092 benign 0.28 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801320 4p16.3 4 86147C> T null L F 32 32 missense 0.911 probably damaging 0.06 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1458436855 4p16.3 4 86150A> G null S G 33 33 missense 0.001 benign 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs17857099 4p16.3 4 86151G> T null S I 33 33 0.0 missense 0.005 benign 0.32 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782773401 4p16.3 4 86149_86151delinsGA A null S N 33 33 missense 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs17857099 4p16.3 4 86151G> A null S N 33 33 0.0 missense 0.0 benign 0.27 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs386670358 4p16.3 4 86149_86153delinsGAAT G null S NE 33 34 missense 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,gnomAD rs17857100 4p16.3 4 86153A> G null K E 34 34 0.0 missense 0.879 possibly damaging 0.65 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1368989295 4p16.3 4 86157A> T null H L 35 35 missense 0.622 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1368989295 4p16.3 4 86157A> G null H R 35 35 missense 0.622 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1056086482 4p16.3 4 86159A> G null K E 36 36 missense 0.874 possibly damaging 0.1 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801350 4p16.3 4 86161G> T null K N 36 36 missense 0.937 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801353 4p16.3 4 86162A> G null R G 37 37 missense 0.836 possibly damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs200008935 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86163G> T null R I 37 37 missense 0.84 possibly damaging 0.16 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs200008935 4p16.3 4 86163G> A null R K 37 37 missense 0.477 possibly damaging 0.18 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs200848445 4p16.3 4 86165A> T null I F 38 38 missense 0.073 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1560094701 4p16.3 4 86166T> G null I S 38 38 missense 0.097 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801363 4p16.3 4 86168C> A null H N 39 39 missense 0.554 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782074315 4p16.3 4 86171A> G null T A 40 40 missense 0.839 possibly damaging 0.05 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1471520445 4p16.3 4 86180A> G null K E 43 43 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,TOPMed,gnomAD rs370546751 4p16.3 4 86187A> G null Y C 45 45 missense 0.898 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs111857169 4p16.3 4 86190C> A null T K 46 46 missense 0.048 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs111857169 4p16.3 4 86190C> G null T R 46 46 missense 0.258 benign 0.05 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801377 4p16.3 4 86196A> G null E G 48 48 missense 0.663 possibly damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782773229 4p16.3 4 86195G> A null E K 48 48 missense 0.663 possibly damaging 0.4 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs112497500 4p16.3 4 86198G> T null E * 49 49 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs112497500 4p16.3 4 86198G> A null E K 49 49 missense 0.567 possibly damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781834436 4p16.3 4 86201T> A null C S 50 50 missense 0.946 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1287258618 4p16.3 4 86205G> C null G A 51 51 missense 0.661 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1287258618 4p16.3 4 86205G> A null G D 51 51 missense 0.967 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs549095895 4p16.3 4 86208A> G null K R 52 52 3.99E-4 missense 0.956 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs200616637 4p16.3 4 86210G> C null A P 53 53 missense 0.953 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs797039500 4p16.3 4 86217_86219delinsAT A null R N 55 55 missense 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1227084858 4p16.3 4 86217G> C null R T 55 55 missense 0.157 benign 0.38 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs561643785 4p16.3 4 86220G> A null R Q 56 56 2.0E-4 missense 0.208 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs887165839 4p16.3 4 86219C> T null R W 56 56 missense 0.005 benign 0.35 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782660675 4p16.3 4 86223C> T null S F 57 57 missense 0.005 benign 0.17 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782660675 4p16.3 4 86223C> A null S Y 57 57 missense 0.17 benign 0.19 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,NCI-TCGA,gnomAD rs782261022 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86226C> T null T I 58 58 missense 0.444 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1406040364 4p16.3 4 86229T> C null V A 59 59 missense 0.078 benign 0.7 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1323063466 4p16.3 4 86228G> A null V I 59 59 missense 0.402 benign 0.41 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,TOPMed,gnomAD rs192987210 4p16.3 4 86236C> G null N K 61 61 5.99E-4 missense 0.895 possibly damaging 0.05 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1158965904 4p16.3 4 86238A> G null E G 62 62 missense 0.736 possibly damaging 0.24 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,NCI-TCGA,TOPMed,gnomAD rs782373036 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86237G> A null E K 62 62 missense 0.047 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1471002907 4p16.3 4 86241A> G null H R 63 63 missense 0.737 possibly damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs202202110 4p16.3 4 86247A> G null K R 65 65 2.0E-4 missense 0.579 possibly damaging 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs200927625 4p16.3 4 86255A> G null T A 68 68 missense 0.887 possibly damaging 0.06 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1254296817 4p16.3 4 86261G> C null E Q 70 70 missense 0.661 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1032218774 4p16.3 4 86268C> G null P R 72 72 missense 0.881 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782336055 4p16.3 4 86271A> G null Y C 73 73 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1207440942 4p16.3 4 86270T> G null Y D 73 73 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1207440942 4p16.3 4 86270T> C null Y H 73 73 missense 0.979 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781928394 4p16.3 4 86275A> C null K N 74 74 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs200189612 4p16.3 4 86274A> C null K T 74 74 2.0E-4 missense 0.987 probably damaging 0.08 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs879949408 4p16.3 4 86279G> T null E * 76 76 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs879949408 4p16.3 4 86279G> A null E K 76 76 missense 0.137 benign 0.3 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs113081117 4p16.3 4 86282G> A null E K 77 77 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782388615 4p16.3 4 86295C> G null A G 81 81 missense 0.746 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1553801434 4p16.3 4 86294G> T null A S 81 81 missense 0.23 benign 0.11 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed rs201371259 4p16.3 4 86301C> A null T K 83 83 missense 0.175 benign 0.21 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed rs201371259 4p16.3 4 86301C> G null T R 83 83 missense 0.012 benign 0.23 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801443 4p16.3 4 86305G> T null R S 84 84 missense 0.106 benign 0.27 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs201648495 4p16.3 4 86303A> T null R W 84 84 2.0E-4 missense 0.931 probably damaging 0.29 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781800904 4p16.3 4 86312A> G null T A 87 87 missense 0.462 possibly damaging 0.44 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs879994616 4p16.3 4 86313C> T null T I 87 87 missense 0.815 possibly damaging 0.3 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs879994616 4p16.3 4 86313C> G null T R 87 87 missense 0.07 benign 0.17 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781800904 4p16.3 4 86312A> T null T S 87 87 missense 0.584 possibly damaging 0.65 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781891070 4p16.3 4 86319A> G null N S 89 89 missense 0.031 benign 0.26 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782520627 4p16.3 4 86321G> A null E K 90 90 missense 0.603 possibly damaging 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801462 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86330A> G null K E 93 93 missense 0.503 possibly damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs879959787 4p16.3 4 86332A> T null K N 93 93 missense 0.682 possibly damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781840656 4p16.3 4 86331A> G null K R 93 93 missense 0.018 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801466 4p16.3 4 86333A> T null I F 94 94 missense 0.883 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801471 4p16.3 4 86343G> A null G E 97 97 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782582534 4p16.3 4 86351C> G null P A 100 100 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782582534 4p16.3 4 86351C> T null P S 100 100 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782191095 4p16.3 4 86355A> G null Y C 101 101 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801479 4p16.3 4 86362T> G null C W 103 103 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1186155234 4p16.3 4 86363A> G null K E 104 104 missense 0.047 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1463993541 4p16.3 4 86365A> C null K N 104 104 missense 0.6 possibly damaging 0.26 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1560095040 4p16.3 4 86366G> T null E * 105 105 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1218542597 4p16.3 4 86369T> C null C R 106 106 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782430532 4p16.3 4 86370G> C null C S 106 106 missense 0.963 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782350052 4p16.3 4 86389G> A null W * 112 112 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs879946479 4p16.3 4 86388G> A null W * 112 112 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs879981925 4p16.3 4 86387T> C null W R 112 112 missense 0.145 benign 0.56 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs879981925 4p16.3 4 86387T> A null W R 112 112 missense 0.145 benign 0.56 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801505 4p16.3 4 86394C> T null T I 114 114 missense 0.541 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs17853554 4p16.3 4 86400T> C null L P 116 116 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs17853554 4p16.3 4 86400T> A null L Q 116 116 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782060421 4p16.3 4 86403A> G null N S 117 117 missense 0.007 benign 0.35 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801515 4p16.3 4 86409A> G null H R 119 119 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1295594389 4p16.3 4 86408C> T null H Y 119 119 missense 0.977 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1227785143 4p16.3 4 86411A> G null K E 120 120 missense 0.987 probably damaging 0.07 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199781175 4p16.3 4 86416T> A null N K 121 121 2.0E-4 missense 0.241 benign 0.26 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801520 4p16.3 4 86415A> G null N S 121 121 missense 0.675 possibly damaging 0.05 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs782384250 4p16.3 4 86417A> T null I F 122 122 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782035201 4p16.3 4 86418T> C null I T 122 122 missense 0.979 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1432776478 4p16.3 4 86421A> G null H R 123 123 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs931571240 4p16.3 4 86424C> T null T I 124 124 missense 0.853 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801535 4p16.3 4 86427G> C null G A 125 125 missense 0.8 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1047032155 4p16.3 4 86429G> T null E * 126 126 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs908577675 4p16.3 4 86431G> T null E D 126 126 missense 0.921 probably damaging 0.05 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs908577675 4p16.3 4 86431G> C null E D 126 126 missense 0.921 probably damaging 0.05 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1047032155 4p16.3 4 86429G> A null E K 126 126 missense 0.98 probably damaging 0.06 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1047032155 4p16.3 4 86429G> C null E Q 126 126 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs944117394 4p16.3 4 86436C> T null P L 128 128 missense 0.717 possibly damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1419605033 4p16.3 4 86435C> T null P S 128 128 missense 0.848 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs879983701 4p16.3 4 86447A> G null K E 132 132 missense 0.001 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801549 4p16.3 4 86452A> C null E D 133 133 missense 0.921 probably damaging 0.12 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,NCI-TCGA,gnomAD rs782101751 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86454G> A null C Y 134 134 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs899915790 4p16.3 4 86457G> C null G A 135 135 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs899915790 4p16.3 4 86457G> T null G V 135 135 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1472109008 4p16.3 4 86462G> A null A T 137 137 missense 0.925 probably damaging 0.1 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801560 4p16.3 4 86463C> T null A V 137 137 missense 0.925 probably damaging 0.14 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1212052058 4p16.3 4 86472A> G null Q R 140 140 missense 0.036 benign 0.55 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1486826569 4p16.3 4 86477A> G null R G 142 142 missense 0.07 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1204702803 4p16.3 4 86479G> C null R S 142 142 missense 0.007 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1272828364 4p16.3 4 86478G> C null R T 142 142 missense 0.073 benign 0.07 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801572 4p16.3 4 86489G> T null E * 146 146 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801576 4p16.3 4 86493A> G null H R 147 147 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781809106 4p16.3 4 86499A> T null N I 149 149 missense 0.915 probably damaging 0.21 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781809106 4p16.3 4 86499A> G null N S 149 149 missense 0.675 possibly damaging 0.05 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1376921947 4p16.3 4 86502T> C null I T 150 150 missense 0.979 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801585 4p16.3 4 86501A> G null I V 150 150 missense 0.881 possibly damaging 0.1 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801588 4p16.3 4 86505A> C null H P 151 151 missense 0.99 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782438495 4p16.3 4 86508C> T null T I 152 152 missense 0.609 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782438495 4p16.3 4 86508C> G null T S 152 152 missense 0.488 possibly damaging 0.08 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801594 4p16.3 4 86510G> C null G R 153 153 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1054039375 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86513G> A null E K 154 154 missense 0.981 probably damaging 0.05 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs370276055 4p16.3 4 86518A> C null K N 155 155 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801605 4p16.3 4 86520C> A null P H 156 156 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782462368 4p16.3 4 86525A> G null T A 158 158 missense 0.034 benign 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782288087 4p16.3 4 86538G> T null C F 162 162 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782288087 4p16.3 4 86538G> A null C Y 162 162 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782402725 4p16.3 4 86541G> A null G D 163 163 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782000925 4p16.3 4 86546G> A null A T 165 165 missense 0.995 probably damaging 0.05 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782249415 4p16.3 4 86547C> T null A V 165 165 missense 0.992 probably damaging 0.07 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782363057 4p16.3 4 86550T> G null F C 166 166 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801629 4p16.3 4 86551T> A null F L 166 166 missense 0.944 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801635 4p16.3 4 86559C> T null S F 169 169 missense 0.983 probably damaging 0.27 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1321139842 4p16.3 4 86562C> G null S * 170 170 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782719135 4p16.3 4 86564A> G null S G 171 171 missense 0.344 benign 0.38 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801641 4p16.3 4 86565G> C null S T 171 171 missense 0.012 benign 0.93 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375007613 4p16.3 4 86571T> C null I T 173 173 3.99E-4 missense 0.275 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782754501 4p16.3 4 86575A> G null I M 174 174 missense 0.353 benign 0.08 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801646 4p16.3 4 86573A> G null I V 174 174 missense 0.031 benign 0.36 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801652 4p16.3 4 86583G> A null S N 177 177 missense 0.262 benign 0.05 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801654 4p16.3 4 86597C> G null Q E 182 182 missense 0.68 possibly damaging 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782711480 4p16.3 4 86606T> G null Y D 185 185 missense 0.985 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782711480 4p16.3 4 86606T> C null Y H 185 185 missense 0.977 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1560095360 4p16.3 4 86611A> C null K N 186 186 missense 0.963 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1373612210 4p16.3 4 86610A> G null K R 186 186 missense 0.845 possibly damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs991644014 4p16.3 4 86622G> C null C S 190 190 missense 0.815 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1433746745 4p16.3 4 86624G> C null G R 191 191 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,TOPMed,gnomAD rs368406865 4p16.3 4 86629A> C null K N 192 192 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782674512 4p16.3 4 86630G> T null A S 193 193 missense 0.956 probably damaging 0.08 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782257438 4p16.3 4 86633T> C null F L 194 194 missense 0.864 possibly damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801686 4p16.3 4 86636A> C null T P 195 195 missense 0.444 benign 0.1 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782513460 4p16.3 4 86637C> G null T S 195 195 missense 0.136 benign 0.8 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782218155 4p16.3 4 86640G> A null W * 196 196 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801689 4p16.3 4 86639T> C null W R 196 196 missense 0.979 probably damaging 0.75 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782331287 4p16.3 4 86642T> G null S A 197 197 missense 0.543 possibly damaging 0.07 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1410341328 4p16.3 4 86645T> A null S T 198 198 missense 0.878 possibly damaging 0.1 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1158938154 4p16.3 4 86648T> A null S T 199 199 missense 0.966 probably damaging 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801693 4p16.3 4 86651C> T null L F 200 200 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs544057287 4p16.3 4 86661A> G null H R 203 203 2.0E-4 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed rs372644520 4p16.3 4 86660C> T null H Y 203 203 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1488236989 4p16.3 4 86663A> G null K E 204 204 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1253672287 4p16.3 4 86667G> A null R K 205 205 missense 0.062 benign 0.21 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs879968349 4p16.3 4 86672C> A null H N 207 207 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782089413 4p16.3 4 86673A> G null H R 207 207 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801700 4p16.3 4 86682A> G null E G 210 210 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782340052 4p16.3 4 86688C> T null P L 212 212 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs983028639 4p16.3 4 86687C> T null P S 212 212 missense 0.991 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs17857096 4p16.3 4 86694C> A null T K 214 214 missense 0.047 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs17857096 4p16.3 4 86694C> G null T R 214 214 missense 0.437 benign 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781925509 4p16.3 4 86702G> T null E * 217 217 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs944002559 4p16.3 4 86705T> G null C G 218 218 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs944002559 4p16.3 4 86705T> C null C R 218 218 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs781902299 4p16.3 4 86714G> A null A T 221 221 missense 0.87 possibly damaging 0.11 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782770114 4p16.3 4 86722T> A null Y * 223 223 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782113308 4p16.3 4 86721A> G null Y C 223 223 missense 0.333 benign 0.09 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1308779309 4p16.3 4 86720T> A null Y N 223 223 missense 0.023 benign 0.86 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1326017287 4p16.3 4 86724G> A null R K 224 224 missense 0.253 benign 0.23 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1442419808 4p16.3 4 86725G> T null R S 224 224 missense 0.221 benign 0.23 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1366346015 4p16.3 4 86723A> T null R W 224 224 missense 0.97 probably damaging 0.29 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1387099454 4p16.3 4 86733A> G null H R 227 227 missense 0.336 benign 0.61 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs879947821 4p16.3 4 86738G> T null A S 229 229 missense 0.151 benign 0.35 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs879947821 4p16.3 4 86738G> A null A T 229 229 missense 0.567 possibly damaging 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1365909950 4p16.3 4 86742A> G null K R 230 230 missense 0.987 probably damaging 0.49 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782484966 4p16.3 4 86745A> G null H R 231 231 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782564877 4p16.3 4 86747A> G null K E 232 232 missense 0.76 possibly damaging 0.05 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781801889 4p16.3 4 86748A> G null K R 232 232 missense 0.113 benign 0.19 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781801889 4p16.3 4 86748A> C null K T 232 232 missense 0.87 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801725 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86751G> T null R I 233 233 missense 0.043 benign 0.15 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782530556 4p16.3 4 86754T> C null I T 234 234 missense 0.979 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,NCI-TCGA,TOPMed,gnomAD rs782677217 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86756C> T null H Y 235 235 missense 0.95 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782348766 4p16.3 4 86759A> G null T A 236 236 missense 0.921 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801730 4p16.3 4 86760C> A null T N 236 236 missense 0.985 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801734 4p16.3 4 86763G> C null G A 237 237 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782616417 4p16.3 4 86765G> A null E K 238 238 missense 0.732 possibly damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782616417 4p16.3 4 86765G> C null E Q 238 238 missense 0.799 possibly damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782181804 4p16.3 4 86769A> C null K T 239 239 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782023653 4p16.3 4 86772C> A null P H 240 240 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782023653 4p16.3 4 86772C> T null P L 240 240 missense 0.998 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782023653 4p16.3 4 86772C> G null P R 240 240 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1395868262 4p16.3 4 86775A> G null Y C 241 241 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801753 4p16.3 4 86774T> G null Y D 241 241 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1195585278 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86777A> G null T A 242 242 missense 0.055 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782168531 4p16.3 4 86778C> T null T M 242 242 missense 0.564 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369964159 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86783G> A null E K 244 244 missense 0.771 possibly damaging 0.27 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1262246754 4p16.3 4 86786G> C null E Q 245 245 missense 0.98 probably damaging 0.08 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782758942 4p16.3 4 86789T> C null C R 246 246 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP rs372476391 4p16.3 4 86790G> A null C Y 246 246 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801772 4p16.3 4 86792G> A null G S 247 247 missense 0.946 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs575617079 4p16.3 4 86801T> C null F L 250 250 2.0E-4 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1235873276 4p16.3 4 86804A> C null N H 251 251 missense 0.998 probably damaging 0.05 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs369231604 4p16.3 4 86806C> G null N K 251 251 missense 0.992 probably damaging 0.22 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782063218 4p16.3 4 86807C> A null Q K 252 252 missense 0.05 benign 0.13 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801777 4p16.3 4 86810T> C null S P 253 253 missense 0.626 possibly damaging 0.06 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801784 4p16.3 4 86813T> G null S A 254 254 missense 0.012 benign 0.09 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782792055 4p16.3 4 86816A> G null T A 255 255 missense 0.952 probably damaging 0.64 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781901175 4p16.3 4 86817C> T null T I 255 255 missense 0.986 probably damaging 0.32 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781901175 4p16.3 4 86817C> G null T S 255 255 missense 0.952 probably damaging 0.91 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1301483967 4p16.3 4 86820T> C null L P 256 256 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781846317 4p16.3 4 86823T> A null I K 257 257 missense 0.579 possibly damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782598971 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86824A> G null I M 257 257 missense 0.877 possibly damaging 0.09 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781846317 4p16.3 4 86823T> C null I T 257 257 missense 0.013 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782285327 4p16.3 4 86825T> A null L I 258 258 missense 0.6 possibly damaging 0.23 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1042369364 4p16.3 4 86831A> G null K E 260 260 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs543032319 4p16.3 4 86832A> G null K R 260 260 3.99E-4 missense 0.987 probably damaging 0.17 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801800 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86835G> T null R I 261 261 missense 0.992 probably damaging 0.21 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782636171 4p16.3 4 86836A> C null R S 261 261 missense 0.992 probably damaging 0.05 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782343736 4p16.3 4 86847G> C null G A 265 265 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782343736 4p16.3 4 86847G> A null G E 265 265 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801804 4p16.3 4 86846G> T null G W 265 265 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs17853555 4p16.3 4 86849C> G null Q E 266 266 missense 0.013 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs17853555 4p16.3 4 86849C> A null Q K 266 266 missense 0.23 benign 0.05 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782318080 4p16.3 4 86856C> T null P L 268 268 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801816 4p16.3 4 86859A> G null Y C 269 269 missense 0.989 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782013001 4p16.3 4 86858T> C null Y H 269 269 missense 0.985 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782162003 4p16.3 4 86861A> G null K E 270 270 missense 0.653 possibly damaging 0.15 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801820 4p16.3 4 86862A> C null K T 270 270 missense 0.175 benign 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782757318 4p16.3 4 86867G> A null E K 272 272 missense 0.987 probably damaging 0.32 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782757318 4p16.3 4 86867G> C null E Q 272 272 missense 0.992 probably damaging 0.12 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1033777443 4p16.3 4 86873T> A null C S 274 274 missense 0.963 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781992127 4p16.3 4 86877G> A null G D 275 275 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1429066861 4p16.3 4 86883C> A null A D 277 277 missense 0.757 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1429066861 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86883C> T null A V 277 277 missense 0.925 probably damaging 0.11 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs528766593 4p16.3 4 86888A> T null T S 279 279 2.0E-4 missense 0.402 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs372905683 4p16.3 4 86892G> T null R L 280 280 missense 0.427 benign 0.24 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs372905683 4p16.3 4 86892G> A null R Q 280 280 missense 0.015 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782719230 4p16.3 4 86891C> T null R W 280 280 missense 0.011 benign 0.23 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801841 4p16.3 4 86898C> T null T I 282 282 missense 0.541 possibly damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782806452 4p16.3 4 86900A> G null T A 283 283 missense 0.814 possibly damaging 0.73 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1339505649 4p16.3 4 86901C> A null T K 283 283 missense 0.828 possibly damaging 0.78 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782806452 4p16.3 4 86900A> T null T S 283 283 missense 0.699 possibly damaging 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781855821 4p16.3 4 86903C> G null L V 284 284 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782231540 4p16.3 4 86906A> G null N D 285 285 missense 0.639 possibly damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3789149 4p16.3 4 86908C> G null N K 285 285 0.2448 missense 0.926 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs180742908 4p16.3 4 86907A> G null N S 285 285 0.001997 missense 0.194 benign 0.25 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782428017 4p16.3 4 86909G> A null E K 286 286 missense 0.046 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1560095835 4p16.3 4 86913A> G null H R 287 287 missense 0.976 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801856 4p16.3 4 86915A> G null K E 288 288 missense 0.987 probably damaging 0.08 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs183670728 4p16.3 4 86916A> G null K R 288 288 3.99E-4 missense 0.987 probably damaging 0.17 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs61741919 4p16.3 4 86919A> G null K R 289 289 missense 0.113 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801864 4p16.3 4 86921A> T null I F 290 290 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1414613831 4p16.3 4 86922T> C null I T 290 290 missense 0.777 possibly damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782255595 4p16.3 4 86925A> T null H L 291 291 missense 0.949 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1356500205 4p16.3 4 86924C> A null H N 291 291 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782255595 4p16.3 4 86925A> G null H R 291 291 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801875 4p16.3 4 86927A> T null T S 292 292 missense 0.033 benign 0.07 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1315056304 4p16.3 4 86931G> A null G D 293 293 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373753380 4p16.3 4 86933G> A null E K 294 294 5.99E-4 missense 0.135 benign 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs782003369 4p16.3 4 86936A> T null K * 295 295 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs782003369 4p16.3 4 86936A> G null K E 295 295 missense 0.576 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782073339 4p16.3 4 86940C> G null P R 296 296 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782790797 4p16.3 4 86943A> G null Y C 297 297 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55755847 4p16.3 4 86946A> G null K R 298 298 0.01298 missense 0.97 probably damaging 0.05 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55755847 4p16.3 4 86946A> C null K T 298 298 0.01298 missense 0.991 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs932740841 4p16.3 4 86950T> A null C * 299 299 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1560095890 4p16.3 4 86948T> C null C R 299 299 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801890 4p16.3 4 86953A> T null E D 300 300 missense 0.109 benign 0.1 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1257929743 4p16.3 4 86951G> A null E K 300 300 missense 0.005 benign 0.35 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs371388773 4p16.3 4 86955A> G null E G 301 301 missense 0.813 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs371388773 4p16.3 4 86955A> T null E V 301 301 missense 0.063 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801892 4p16.3 4 86971C> A null F L 306 306 missense 0.974 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs781823059 4p16.3 4 86974A> G null I M 307 307 missense 0.815 possibly damaging 0.07 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1340844974 4p16.3 4 86973T> C null I T 307 307 missense 0.342 benign 0.56 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782795580 4p16.3 4 86972A> G null I V 307 307 missense 0.258 benign 0.21 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1233175685 4p16.3 4 86979C> T null S F 309 309 missense 0.005 benign 0.16 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1264269716 4p16.3 4 86978T> A null S T 309 309 missense 0.066 benign 0.05 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs374778353 4p16.3 4 86981G> C null A P 310 310 missense 0.165 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs374778353 4p16.3 4 86981G> T null A S 310 310 missense 0.028 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs374778353 4p16.3 4 86981G> A null A T 310 310 missense 0.0 benign 0.11 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1553801900 4p16.3 4 86986C> A null S R 311 311 missense 0.76 possibly damaging 0.27 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782542402 4p16.3 4 86988T> C null L P 312 312 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801902 4p16.3 4 86987C> G null L V 312 312 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801904 4p16.3 4 86994A> T null E V 314 314 missense 0.806 possibly damaging 0.32 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200499473 4p16.3 4 86996C> A null H N 315 315 5.99E-4 missense 0.859 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782505791 4p16.3 4 86997A> G null H R 315 315 missense 0.09 benign 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs879954236 4p16.3 4 87004T> A null N K 317 317 missense 0.047 benign 0.28 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1042253128 4p16.3 4 87006T> C null I T 318 318 missense 0.979 probably damaging 0.05 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801910 4p16.3 4 87015G> C null G A 321 321 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801909 4p16.3 4 87014G> A null G R 321 321 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs906420093 4p16.3 4 87019G> T null E D 322 322 missense 0.921 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782595204 4p16.3 4 87022A> T null K N 323 323 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801914 4p16.3 4 87027A> G null Y C 325 325 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801914 4p16.3 4 87027A> T null Y F 325 325 missense 0.97 probably damaging 0.12 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1162759823 4p16.3 4 87030A> G null K R 326 326 missense 0.742 possibly damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1460839209 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 87033G> A null C Y 327 327 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs61745977 4p16.3 4 87035A> G null K E 328 328 missense 0.621 possibly damaging 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782333439 4p16.3 4 87038G> T null E * 329 329 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782673299 4p16.3 4 87039A> G null E G 329 329 missense 0.899 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1166868799 4p16.3 4 87042G> A null C Y 330 330 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes rs566515764 4p16.3 4 87044G> A null G S 331 331 2.0E-4 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782296372 4p16.3 4 87045G> T null G V 331 331 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782382504 4p16.3 4 87048A> G null K R 332 332 missense 0.97 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782002201 4p16.3 4 87060A> G null Q R 336 336 missense 0.95 probably damaging 0.58 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782065919 4p16.3 4 87069G> A null G D 339 339 missense 0.626 possibly damaging 0.44 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs558920342 4p16.3 4 87068G> A null G S 339 339 3.99E-4 missense 0.626 possibly damaging 0.96 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs781898625 4p16.3 4 87071C> T null L F 340 340 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs781898625 4p16.3 4 87071C> G null L V 340 340 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782104952 4p16.3 4 87075T> C null I T 341 341 missense 0.0 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs886196757 4p16.3 4 87074A> G null I V 341 341 missense 0.01 benign 0.15 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782785781 4p16.3 4 87079A> G null I M 342 342 missense 0.007 benign 0.14 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801935 4p16.3 4 87083A> G null R G 344 344 missense 0.415 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801936 4p16.3 4 87084G> A null R K 344 344 missense 0.22 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801938 4p16.3 4 87086A> T null S C 345 345 missense 0.633 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188263332 4p16.3 4 87087G> A null S N 345 345 9.98E-4 missense 0.07 benign 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782592988 4p16.3 4 87089A> T null I F 346 346 missense 0.391 benign 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782592988 4p16.3 4 87089A> G null I V 346 346 missense 0.015 benign 0.13 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801943 4p16.3 4 87095T> G null S A 348 348 missense 0.001 benign 0.07 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782638913 4p16.3 4 87099A> C null E A 349 349 missense 0.01 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782638913 4p16.3 4 87099A> T null E V 349 349 missense 0.001 benign 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801946 4p16.3 4 87101C> G null Q E 350 350 missense 0.0 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1280429534 4p16.3 4 87108T> C null L P 352 352 missense 0.0 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs375240508 4p16.3 4 87112C> G null Y * 353 353 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs371986253 4p16.3 4 87111A> G null Y C 353 353 missense 0.785 possibly damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs368185097 4p16.3 4 87110T> C null Y H 353 353 missense 0.045 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs368185097 4p16.3 4 87110T> A null Y N 353 353 missense 0.648 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1441680244 4p16.3 4 87114A> G null K R 354 354 missense 0.047 benign 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782329115 4p16.3 4 87117G> C null C S 355 355 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801952 4p16.3 4 87122G> A null E K 357 357 missense 0.017 benign 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782017456 4p16.3 4 87125T> G null C G 358 358 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1395132937 4p16.3 4 87128G> C null G R 359 359 missense 0.895 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782164319 4p16.3 4 87134G> A null A T 361 361 missense 0.015 benign 0.12 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782370546 4p16.3 4 87135C> T null A V 361 361 missense 0.218 benign 0.11 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781809328 4p16.3 4 87144G> T null R L 364 364 missense 0.348 benign 0.73 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781809328 4p16.3 4 87144G> C null R P 364 364 missense 0.748 possibly damaging 0.2 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781809328 4p16.3 4 87144G> A null R Q 364 364 missense 0.346 benign 0.95 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372290262 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 87143C> T null R W 364 364 missense 0.899 possibly damaging 0.38 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs554631809 4p16.3 4 87152G> T null A S 367 367 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs554631809 4p16.3 4 87152G> A null A T 367 367 2.0E-4 missense 0.029 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801980 4p16.3 4 87159A> T null N I 369 369 missense 0.028 benign 0.27 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,gnomAD rs374669706 4p16.3 4 87165A> G null H R 371 371 missense 0.832 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553801987 4p16.3 4 87164C> T null H Y 371 371 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1207389937 4p16.3 4 87167A> T null K * 372 372 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1207389937 4p16.3 4 87167A> G null K E 372 372 missense 0.006 benign 0.08 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs977438149 4p16.3 4 87168A> G null K R 372 372 missense 0.006 benign 0.06 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781836817 4p16.3 4 87173A> T null I F 374 374 missense 0.79 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs954227732 4p16.3 4 87174T> C null I T 374 374 missense 0.506 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs781867765 4p16.3 4 87177A> G null H R 375 375 missense 0.982 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs879976423 4p16.3 4 87179T> A null S T 376 376 missense 0.003 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782449625 4p16.3 4 87191C> T null P S 380 380 missense 0.263 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782270196 4p16.3 4 87195A> G null Y C 381 381 missense 0.785 possibly damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs915278489 4p16.3 4 87197A> G null K E 382 382 missense 0.012 benign 0.12 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782551488 4p16.3 4 87202C> G null C W 383 383 missense 0.968 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782627869 4p16.3 4 87203A> G null K E 384 384 missense 0.003 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes rs572946725 4p16.3 4 87210G> A null C Y 386 386 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1302868139 4p16.3 4 87212G> T null G C 387 387 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1560096285 4p16.3 4 87216A> G null K R 388 388 missense 0.577 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782338004 4p16.3 4 87222A> G null Y C 390 390 missense 0.926 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782198948 4p16.3 4 87224A> G null N D 391 391 missense 0.621 possibly damaging 0.05 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782425850 4p16.3 4 87226C> G null N K 391 391 missense 0.728 possibly damaging 0.37 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553802018 4p16.3 4 87228T> G null L * 392 392 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1305588397 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 87234C> T null S L 394 394 missense 0.344 benign 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs373846310 4p16.3 4 87233T> C null S P 394 394 missense 0.444 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs879999374 4p16.3 4 87236A> G null T A 395 395 missense 0.292 benign 0.74 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs879999374 4p16.3 4 87236A> T null T S 395 395 missense 0.292 benign 0.86 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782804433 4p16.3 4 87239C> T null L F 396 396 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782783861 4p16.3 4 87243C> T null T I 397 397 missense 0.272 benign 0.18 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782783861 4p16.3 4 87243C> G null T S 397 397 missense 0.038 benign 0.27 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs375240093 4p16.3 4 87247A> C null K N 398 398 missense 0.482 possibly damaging 0.26 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369572114 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 87249A> G null H R 399 399 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781801131 4p16.3 4 87254A> T null R * 401 401 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781801131 4p16.3 4 87254A> G null R G 401 401 missense 0.963 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553802033 4p16.3 4 87259T> G null I M 402 402 missense 0.917 probably damaging 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs895065097 4p16.3 4 87264C> T null T I 404 404 missense 0.987 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553802042 4p16.3 4 87267G> A null G E 405 405 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782528041 4p16.3 4 87266G> A null G R 405 405 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782528041 4p16.3 4 87266G> C null G R 405 405 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs781816050 4p16.3 4 87279T> A null F Y 409 409 missense 0.096 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782531191 4p16.3 4 87284_87285ins A null C * 411 411 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781850863 4p16.3 4 87285G> T null C F 411 411 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781850863 4p16.3 4 87285G> C null C S 411 411 missense 0.978 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1279963074 4p16.3 4 87288A> C null E A 412 412 missense 0.973 probably damaging 0.09 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782596471 4p16.3 4 87292A> C null E D 413 413 missense 0.839 possibly damaging 0.1 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC rs782514952 4p16.3 4 87290G> A null E K 413 413 missense 0.957 probably damaging 0.05 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782225316 4p16.3 4 87293T> C null C R 414 414 missense 0.99 probably damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782432546 4p16.3 4 87297G> A null G D 415 415 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1272598241 4p16.3 4 87301A> C null K N 416 416 missense 0.811 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1214016772 4p16.3 4 87303C> A null A D 417 417 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,gnomAD rs377671827 4p16.3 4 87302G> T null A S 417 417 missense 0.785 possibly damaging 0.09 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs1214016772 4p16.3 4 87303C> T null A V 417 417 missense 0.479 possibly damaging 0.04 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs879985331 4p16.3 4 87307C> A null F L 418 418 missense 0.884 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs532659434 4p16.3 4 87309A> G null N S 419 419 2.0E-4 missense 0.424 benign 0.58 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs879950203 4p16.3 4 87311T> C null W R 420 420 missense 0.368 benign 0.58 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs886165552 4p16.3 4 87314T> C null S P 421 421 missense 0.651 possibly damaging 0.05 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs782460125 4p16.3 4 87317T> C null S P 422 422 missense 0.91 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1560096452 4p16.3 4 87320T> C null S P 423 423 missense 0.881 possibly damaging 0.13 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553802085 4p16.3 4 87323C> G null L V 424 424 missense 0.503 possibly damaging 0.02 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs544811214 4p16.3 4 87329A> G null K E 426 426 3.99E-4 missense 0.76 possibly damaging 0.46 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes rs562901235 4p16.3 4 87330A> T null K I 426 426 3.99E-4 missense 0.972 probably damaging 0.16 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781923830 4p16.3 4 87333A> C null H P 427 427 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs548352465 4p16.3 4 87338A> C null I L 429 429 3.99E-4 missense 0.46 possibly damaging 0.17 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed rs879994055 4p16.3 4 87339T> G null I R 429 429 missense 0.057 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs548352465 4p16.3 4 87338A> G null I V 429 429 3.99E-4 missense 0.653 possibly damaging 0.17 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs566550835 4p16.3 4 87343T> G null I M 430 430 3.99E-4 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782807213 4p16.3 4 87347A> G null T A 432 432 missense 0.018 benign 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553802104 4p16.3 4 87348C> T null T I 432 432 missense 0.003 benign 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782807213 4p16.3 4 87347A> T null T S 432 432 missense 0.034 benign 0.08 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782028098 4p16.3 4 87356A> G null K E 435 435 missense 0.653 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs998446351 4p16.3 4 87359T> C null S P 436 436 missense 0.0 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1028954442 4p16.3 4 87360C> A null S Y 436 436 missense 0.055 benign 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1189031654 4p16.3 4 87365A> G null K E 438 438 missense 0.971 probably damaging 0.22 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 gnomAD rs1553802115 4p16.3 4 87367A> C null K N 438 438 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782111018 4p16.3 4 87369G> A null C Y 439 439 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781819688 4p16.3 4 87377T> C null C R 442 442 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,dbSNP,gnomAD rs2006764 4p16.3 4 87387C> G null A G 445 445 0.0 missense 0.005 benign 0.05 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781894376 4p16.3 4 87396G> A null R Q 448 448 missense 0.003 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs537704335 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 87395C> T null R W 448 448 3.99E-4 missense 0.539 possibly damaging 0.17 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs549955248 4p16.3 4 87398C> T null P S 449 449 3.99E-4 missense 0.018 benign 1.0 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs535633151 4p16.3 4 87404A> T null T S 451 451 3.99E-4 missense 0.014 benign 0.96 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs954327623 4p16.3 4 87408T> A null L H 452 452 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs954327623 4p16.3 4 87408T> G null L R 452 452 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62638705 4p16.3 4 87410A> G null T A 453 453 7.99E-4 missense 0.525 possibly damaging 0.21 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs370216758 4p16.3 4 87411C> T null T I 453 453 missense 0.852 possibly damaging 0.33 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62638705 4p16.3 4 87410A> T null T S 453 453 7.99E-4 missense 0.621 possibly damaging 0.36 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782182256 4p16.3 4 87418C> G null H Q 455 455 missense 0.841 possibly damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782612545 4p16.3 4 87417A> G null H R 455 455 missense 0.511 possibly damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782327932 4p16.3 4 87420A> G null K R 456 456 missense 0.952 probably damaging 0.26 tolerated 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed rs782667356 4p16.3 4 87422C> T null R * 457 457 stop gained 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed rs782295852 4p16.3 4 87423G> A null R Q 457 457 missense 0.0 benign 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs201757945 4p16.3 4 87426T> A null I N 458 458 missense 0.632 possibly damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782366168 4p16.3 4 87429A> C null H P 459 459 missense 0.962 probably damaging 0.0 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs966768130 4p16.3 4 87434G> A null G S 461 461 missense 0.99 probably damaging 0.01 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782075606 4p16.3 4 87438A> G null K R 462 462 missense 0.007 benign 0.03 deleterious 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1560096644 4p16.3 4 87442A> C null E D 463 463 missense 0.036 benign 0.09 tolerated - low confidence 0 A0A075B7G3 ZNF595 Zinc finger protein 595 Ensembl rs1560096653 4p16.3 4 87443C> A null H N 464 464 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782352915 4p16.3 4 87444A> G null H R 464 464 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A075B7G3 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs374526814 4p16.3 4 87450G> T null * L 466 466 stop lost 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs766662109 4p16.3 4 59433C> T null L F 3 3 missense 0.934 probably damaging 0.49 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs766662109 4p16.3 4 59433C> A null L I 3 3 missense 0.801 possibly damaging 0.36 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs751386277 4p16.3 4 59434T> C null L P 3 3 missense 0.955 probably damaging 0.5 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs751386277 4p16.3 4 59434T> G null L R 3 3 missense 0.955 probably damaging 0.51 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs766662109 4p16.3 4 59433C> G null L V 3 3 missense 0.801 possibly damaging 0.55 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1429167941 4p16.3 4 59437T> C null V A 4 4 missense 0.0 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs752634653 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 59436G> A null V I 4 4 missense 0.0 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1373817081 4p16.3 4 59442T> C null F L 6 6 missense 0.682 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs748759026 4p16.3 4 59446G> A null R K 7 7 missense 0.567 possibly damaging 0.26 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs770582196 4p16.3 4 59452T> C null V A 9 9 missense 0.728 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs770582196 4p16.3 4 59452T> A null V E 9 9 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1313193162 4p16.3 4 59451G> A null V M 9 9 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1428451812 4p16.3 4 59454G> A null A T 10 10 missense 0.908 possibly damaging 0.11 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1269495099 4p16.3 4 59455C> T null A V 10 10 missense 0.866 possibly damaging 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs745529110 4p16.3 4 59458T> A null I K 11 11 missense 0.03 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,gnomAD rs1045387254 4p16.3 4 59457A> G null I V 11 11 missense 0.0 benign 0.33 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs6834707 4p16.3 4 59457A> G null I V 11 11 missense 0.0 benign 0.33 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1300649361 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 4p16.3 4 59460G> T null E * 12 12 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs777026899 4p16.3 4 59462A> C null E D 12 12 missense 0.801 possibly damaging 0.38 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs768959864 4p16.3 4 59461A> G null E G 12 12 missense 0.859 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs748639138 4p16.3 4 59464T> G null F C 13 13 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1444470401 4p16.3 4 59467C> G null S C 14 14 missense 0.938 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1444470401 4p16.3 4 59467C> A null S Y 14 14 missense 0.919 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1242005844 4p16.3 4 59469C> G null P A 15 15 missense 0.003 benign 0.76 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs773445166 4p16.3 4 59470C> A null P H 15 15 missense 0.106 benign 0.18 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs773445166 4p16.3 4 59470C> T null P L 15 15 missense 0.009 benign 0.73 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs766715408 4p16.3 4 59474A> C null E D 16 16 missense 0.801 possibly damaging 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1393350385 4p16.3 4 59472G> C null E Q 16 16 missense 0.859 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs774507461 4p16.3 4 59479G> A null W * 18 18 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs865999328 4p16.3 4 59480G> A null W * 18 18 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1556129533 4p16.3 4 59478T> G null W G 18 18 missense 0.803 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs774507461 4p16.3 4 59479G> C null W S 18 18 missense 0.904 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1317412737 4p16.3 4 59481A> G null K E 19 19 missense 0.801 possibly damaging 0.68 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs767265112 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 59482A> G null K R 19 19 missense 0.801 possibly damaging 0.17 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,gnomAD rs370028516 4p16.3 4 59485G> T null C F 20 20 0.003794 missense 0.919 probably damaging 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1466469491 4p16.3 4 59485G> A null C Y 20 20 missense 0.919 probably damaging 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,gnomAD rs370028516 4p16.3 4 59485G> A null C Y 20 20 0.003794 missense 0.919 probably damaging 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs756825895 4p16.3 4 59492C> A null D E 22 22 missense 0.013 benign 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1379178825 4p16.3 4 59490G> A null D N 22 22 missense 0.0 benign 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs753349332 4p16.3 4 59490G> A null D N 22 22 missense 0.0 benign 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs758033495 4p16.3 4 59494C> T null P L 23 23 missense 0.958 probably damaging 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1168012822 4p16.3 4 59494C> G null P R 23 23 missense 0.972 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs758033495 4p16.3 4 59494C> G null P R 23 23 missense 0.972 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs778471887 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 59493C> T null P S 23 23 missense 0.932 probably damaging 0.38 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs778471887 4p16.3 4 59493C> A null P T 23 23 missense 0.958 probably damaging 0.82 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes rs535562082 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 59496G> C null A P 24 24 3.99E-4 missense 0.11 benign 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs770434968 4p16.3 4 59497C> T null A V 24 24 missense 0.037 benign 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1251741665 4p16.3 4 59499C> T null Q * 25 25 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1468071341 4p16.3 4 59500A> T null Q L 25 25 missense 0.005 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1248626351 4p16.3 4 59503A> G null Q R 26 26 missense 0.013 benign 0.85 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs774472485 4p16.3 4 59510G> T null L F 28 28 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs774472485 4p16.3 4 59510G> C null L F 28 28 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1195385021 4p16.3 4 59510G> T null L F 28 28 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1157720145 4p16.3 4 59508T> A null L M 28 28 missense 0.934 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs760393962 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 59512A> G null Y C 29 29 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs775173665 4p16.3 4 59511T> C null Y H 29 29 missense 0.934 probably damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs763868973 4p16.3 4 59514A> G null R G 30 30 missense 0.005 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs753827309 4p16.3 4 59515G> A null R K 30 30 missense 0.0 benign 0.12 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs753827309 4p16.3 4 59515G> C null R T 30 30 missense 0.005 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1473960679 4p16.3 4 59515G> C null R T 30 30 missense 0.005 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs757160821 4p16.3 4 59517G> A null D N 31 31 missense 0.908 possibly damaging 0.53 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1333567933 4p16.3 4 59525G> A null M I 33 33 missense 0.043 benign 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1256163983 4p16.3 4 59541A> G null N D 39 39 missense 0.801 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs749907599 4p16.3 4 59541A> G null N D 39 39 missense 0.801 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1334796891 4p16.3 4 59548T> G null V G 41 41 missense 0.851 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1436220364 4p16.3 4 59551C> T null S F 42 42 missense 0.919 probably damaging 0.83 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1292130772 4p16.3 4 59550T> A null S T 42 42 missense 0.682 possibly damaging 0.81 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1212250061 4p16.3 4 59551C> A null S Y 42 42 missense 0.919 probably damaging 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1233719148 4p16.3 4 59556G> A null A T 44 44 missense 0.981 probably damaging 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs376128961 4p16.3 4 85735A> G null I M 45 45 missense 0.0 benign 0.24 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374054079 4p16.3 4 85733A> G null I V 45 45 2.0E-4 missense 0.0 benign 0.31 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1025887994 4p16.3 4 85736T> G null C G 46 46 missense 0.201 benign 0.05 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs533438187 4p16.3 4 85742C> T null P S 48 48 2.0E-4 missense 0.086 benign 0.35 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs370739143 4p16.3 4 85753A> T null Q H 51 51 missense 0.977 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs370739143 4p16.3 4 85753A> C null Q H 51 51 missense 0.977 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1223905783 4p16.3 4 85756C> G null D E 52 52 missense 0.188 benign 0.2 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1223905783 4p16.3 4 85756C> A null D E 52 52 missense 0.188 benign 0.2 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781904183 4p16.3 4 85755A> G null D G 52 52 missense 0.14 benign 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782552932 4p16.3 4 85757C> T null L F 53 53 missense 0.986 probably damaging 0.38 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1266225765 4p16.3 4 85761C> G null S * 54 54 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782774577 4p16.3 4 85764C> T null P L 55 55 missense 0.199 benign 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1227709293 4p16.3 4 85767T> C null V A 56 56 missense 0.189 benign 0.29 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781866482 4p16.3 4 85766G> A null V M 56 56 missense 0.775 possibly damaging 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,NCI-TCGA,gnomAD rs782493882 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 4p16.3 4 85769C> T null Q * 57 57 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782577356 4p16.3 4 85770A> C null Q P 57 57 missense 0.0 benign 0.11 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1384818433 4p16.3 4 85785C> A null S * 62 62 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs912441419 4p16.3 4 85784T> G null S A 62 62 missense 0.817 possibly damaging 0.09 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560093868 4p16.3 4 85790C> T null H Y 64 64 missense 0.271 benign 0.05 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782255081 4p16.3 4 85795A> C null K N 65 65 missense 0.277 benign 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs924994561 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 85800T> C null I T 67 67 missense 0.125 benign 0.26 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11729127 4p16.3 4 85799A> G null I V 67 67 2.0E-4 missense 0.001 benign 0.12 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782215134 4p16.3 4 85803T> C null L P 68 68 missense 0.006 benign 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1159156761 4p16.3 4 85802C> G null L V 68 68 missense 0.201 benign 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782331644 4p16.3 4 85805A> T null K * 69 69 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560093928 4p16.3 4 85806A> T null K I 69 69 missense 0.124 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782331644 4p16.3 4 85805A> C null K Q 69 69 missense 0.023 benign 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782080382 4p16.3 4 85812du p null Y * 71 71 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146070291 4p16.3 4 85813C> G null Y * 71 71 0.007388 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782170456 4p16.3 4 85814G> T null E * 72 72 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782170456 4p16.3 4 85814G> A null E K 72 72 missense 0.956 probably damaging 0.44 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1268322733 4p16.3 4 85817A> G null K E 73 73 missense 0.953 probably damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801003 4p16.3 4 85818A> G null K R 73 73 missense 0.953 probably damaging 0.2 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs367734137 4p16.3 4 85821G> T null C F 74 74 missense 0.015 benign 0.05 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs367734137 4p16.3 4 85821G> A null C Y 74 74 missense 0.0 benign 0.15 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801007 4p16.3 4 85823G> A null G R 75 75 missense 0.998 probably damaging 0.11 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781799963 4p16.3 4 85826C> G null H D 76 76 missense 0.271 benign 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801015 4p16.3 4 85830A> T null E V 77 77 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1045937487 4p16.3 4 85833A> C null N T 78 78 missense 0.969 probably damaging 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1463652827 4p16.3 4 85839A> G null Q R 80 80 missense 0.0 benign 0.14 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782044656 4p16.3 4 85846A> T null R S 82 82 missense 0.943 probably damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs371879979 4p16.3 4 85850G> A null G S 84 84 missense 0.001 benign 0.23 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782527343 4p16.3 4 85859C> T null R C 87 87 missense 0.085 benign 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782527343 4p16.3 4 85859C> G null R G 87 87 missense 0.0 benign 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1208086427 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 85860G> A null R H 87 87 missense 0.0 benign 0.11 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs376840200 4p16.3 4 85866A> G null N S 89 89 missense 0.051 benign 0.25 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes rs530802776 4p16.3 4 85872G> A null C Y 91 91 2.0E-4 missense 0.007 benign 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782586765 4p16.3 4 85878T> G null V G 93 93 missense 0.967 probably damaging 0.15 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369412701 4p16.3 4 85877G> A null V M 93 93 2.0E-4 missense 0.986 probably damaging 0.23 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782184931 4p16.3 4 85881A> G null Q R 94 94 missense 0.888 possibly damaging 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1056183572 4p16.3 4 85883A> T null K * 95 95 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1442639704 4p16.3 4 85886G> T null G * 96 96 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801055 4p16.3 4 85887G> A null G E 96 96 missense 0.998 probably damaging 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1362448844 4p16.3 4 85889G> C null V L 97 97 missense 0.201 benign 0.66 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782668166 4p16.3 4 85892A> G null N D 98 98 missense 0.026 benign 0.13 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,TOPMed,gnomAD rs372365824 4p16.3 4 85905A> G null Y C 102 102 missense 0.417 benign 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7667914 4p16.3 4 85909G> C null Q H 103 103 0.0633 missense 0.977 probably damaging 0.13 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs370031970 4p16.3 4 85915G> T null L F 105 105 missense 0.986 probably damaging 0.18 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801065 4p16.3 4 85929G> A null S N 110 110 missense 0.916 probably damaging 0.13 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1378570788 4p16.3 4 85937T> C null F L 113 113 missense 0.022 benign 0.09 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801069 4p16.3 4 85943T> C null C R 115 115 missense 0.622 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1178558163 4p16.3 4 85945T> G null C W 115 115 missense 0.937 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782300741 4p16.3 4 85950C> T null T I 117 117 missense 0.0 benign 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1389733979 4p16.3 4 85952T> C null C R 118 118 missense 0.983 probably damaging 0.15 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1189335219 4p16.3 4 85953G> A null C Y 118 118 missense 0.983 probably damaging 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1553801079 4p16.3 4 85955G> A null V I 119 119 missense 0.893 possibly damaging 0.41 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,TOPMed rs373489806 4p16.3 4 85959A> C null K T 120 120 missense 0.043 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801084 4p16.3 4 85961G> A null V I 121 121 missense 0.0 benign 0.13 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1198645120 4p16.3 4 85968G> A null S N 123 123 missense 0.0 benign 0.4 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801089 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 85981T> G null N K 127 127 missense 0.969 probably damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801091 4p16.3 4 85983C> T null S L 128 128 missense 0.943 probably damaging 0.71 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1256335797 4p16.3 4 85987C> A null N K 129 129 missense 0.969 probably damaging 0.14 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs185675418 4p16.3 4 85992A> G null H R 131 131 0.001198 missense 0.467 possibly damaging 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1007982289 4p16.3 4 85995A> G null K R 132 132 missense 0.031 benign 0.09 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200539049 4p16.3 4 85998T> A null I K 133 133 0.001198 missense 0.031 benign 0.4 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200539049 4p16.3 4 85998T> C null I T 133 133 0.001198 missense 0.0 benign 0.57 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs375760699 4p16.3 4 85997A> G null I V 133 133 missense 0.006 benign 0.5 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1332845937 4p16.3 4 86001G> T null R I 134 134 missense 0.093 benign 0.52 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1332845937 4p16.3 4 86001G> A null R K 134 134 missense 0.0 benign 0.34 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782091335 4p16.3 4 86010G> A null G E 137 137 missense 0.665 possibly damaging 0.19 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1395926829 4p16.3 4 86009G> C null G R 137 137 missense 0.029 benign 0.11 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs538298138 4p16.3 4 86017A> C null K N 139 139 0.001198 missense 0.975 probably damaging 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs957764487 4p16.3 4 86019C> A null P H 140 140 missense 0.308 benign 0.18 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781806395 4p16.3 4 86018C> T null P S 140 140 missense 0.01 benign 0.12 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs548894326 4p16.3 4 86028G> A null C Y 143 143 missense 0.996 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs782774827 4p16.3 4 86033G> T null E * 145 145 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs782774827 4p16.3 4 86033G> C null E Q 145 145 missense 0.001 benign 0.14 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560094218 4p16.3 4 86034A> T null E V 145 145 missense 0.082 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,NCI-TCGA,gnomAD rs782813868 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86046C> T null S L 149 149 missense 0.975 probably damaging 0.09 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782523192 4p16.3 4 86052A> G null Y C 151 151 missense 0.785 possibly damaging 0.26 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782471059 4p16.3 4 86056G> A null M I 152 152 missense 0.0 benign 0.26 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801142 4p16.3 4 86055T> C null M T 152 152 missense 0.006 benign 0.17 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188656270 4p16.3 4 86054A> G null M V 152 152 0.008786 missense 0.0 benign 0.25 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs535868089 4p16.3 4 86060C> T null H Y 154 154 2.0E-4 missense 0.188 benign 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782281954 4p16.3 4 86063C> A null L I 155 155 missense 0.892 possibly damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs781994114 4p16.3 4 86066A> T null T S 156 156 missense 0.049 benign 0.26 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801161 4p16.3 4 86067C> G null T S 156 156 missense 0.049 benign 0.26 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782355591 4p16.3 4 86069C> G null Q E 157 157 missense 0.0 benign 0.14 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1481912292 4p16.3 4 86073A> G null H R 158 158 missense 0.0 benign 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1212790168 4p16.3 4 86072C> T null H Y 158 158 missense 0.061 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 dbSNP rs1553801175 4p16.3 4 86076de l null T null 159 159 frameshift 0 A0A075B7G4 ZNF595 Zinc finger protein 595 dbSNP rs1553801178 4p16.3 4 86078_86079ins A null G null 160 160 frameshift 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1273482334 4p16.3 4 86079G> T null G V 160 160 missense 0.848 possibly damaging 0.09 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375945394 4p16.3 4 86082T> A null I N 161 161 0.001198 missense 0.977 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375945394 4p16.3 4 86082T> C null I T 161 161 0.001198 missense 0.923 probably damaging 0.05 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs74386108 4p16.3 4 86084C> A null H N 162 162 missense 0.877 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801188 4p16.3 4 86088C> G null A G 163 163 missense 0.24 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801198 4p16.3 4 86091G> A null G E 164 164 missense 0.998 probably damaging 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801195 4p16.3 4 86090G> A null G R 164 164 missense 0.998 probably damaging 0.46 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801198 4p16.3 4 86091G> T null G V 164 164 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801203 4p16.3 4 86093G> T null E * 165 165 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801205 4p16.3 4 86094A> G null E G 165 165 missense 0.966 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801216 4p16.3 4 86096A> G null K E 166 166 missense 0.0 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801221 4p16.3 4 86097A> T null K I 166 166 missense 0.027 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1243372490 4p16.3 4 86098A> C null K N 166 166 missense 0.0 benign 0.34 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801221 4p16.3 4 86097A> G null K R 166 166 missense 0.003 benign 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782065353 4p16.3 4 86099C> G null P A 167 167 missense 0.881 possibly damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782691546 4p16.3 4 86100C> A null P H 167 167 missense 0.993 probably damaging 0.05 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782691546 4p16.3 4 86100C> T null P L 167 167 missense 0.992 probably damaging 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782065353 4p16.3 4 86099C> T null P S 167 167 missense 0.966 probably damaging 0.3 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782065353 4p16.3 4 86099C> A null P T 167 167 missense 0.979 probably damaging 0.05 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560094384 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 4p16.3 4 86104C> A null Y * 168 168 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782780952 4p16.3 4 86103A> G null Y C 168 168 missense 0.0 benign 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs199795535 4p16.3 4 86102T> G null Y D 168 168 0.001198 missense 0.224 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782780952 4p16.3 4 86103A> T null Y F 168 168 missense 0.024 benign 0.12 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs199795535 4p16.3 4 86102T> C null Y H 168 168 0.001198 missense 0.303 benign 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs199795535 4p16.3 4 86102T> A null Y N 168 168 0.001198 missense 0.164 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782780952 4p16.3 4 86103A> C null Y S 168 168 missense 0.031 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs113906450 4p16.3 4 86109G> T null C F 170 170 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs201776905 4p16.3 4 86108T> A null C S 170 170 missense 0.965 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs112290390 4p16.3 4 86114A> G null K E 172 172 missense 0.006 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs928813284 4p16.3 4 86115A> C null K T 172 172 missense 0.286 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801245 4p16.3 4 86117T> C null C R 173 173 missense 0.984 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs558699720 4p16.3 4 86121G> C null G A 174 174 missense 0.11 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs558699720 4p16.3 4 86121G> A null G D 174 174 missense 0.56 possibly damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs558699720 4p16.3 4 86121G> T null G V 174 174 missense 0.757 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1370327029 4p16.3 4 86123A> G null K E 175 175 missense 0.902 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781812852 4p16.3 4 86124A> C null K T 175 175 missense 0.967 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1308933450 4p16.3 4 86126G> A null A T 176 176 missense 0.095 benign 0.12 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs201008310 4p16.3 4 86129T> C null F L 177 177 missense 0.91 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs782176283 4p16.3 4 86132_86145delinsTAATAGGTCCACA T null N * 178 182 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1553801259 4p16.3 4 86131_86132insTAATAGGTCCACATCACTTAG T null N * 178 178 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs74490941 4p16.3 4 86133A> T null N I 178 178 0.0 missense 0.991 probably damaging 0.13 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,gnomAD rs78362263 4p16.3 4 86134T> A null N K 178 178 0.0 missense 0.97 probably damaging 0.37 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782538127 4p16.3 4 86134_86135delinsA G null N KG 178 179 missense 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs74490941 4p16.3 4 86133A> G null N S 178 178 0.0 missense 0.955 probably damaging 0.47 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs74490941 4p16.3 4 86133A> C null N T 178 178 0.0 missense 0.97 probably damaging 0.18 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1553801264 4p16.3 4 86133_86153delinsCAGGGTCCACAATCCACTGAAT G null N T 178 178 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs201926921 4p16.3 4 86132A> T null N Y 178 178 missense 0.991 probably damaging 0.13 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs77715101 4p16.3 4 86135A> G null R G 179 179 0.0 missense 0.014 benign 0.34 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782616166 4p16.3 4 86137G> T null R S 179 179 missense 0.0 benign 0.43 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801293 4p16.3 4 86138_86139insA A null S * 180 180 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs1553801280 4p16.3 4 86133_86136du p null S * 180 180 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782325659 4p16.3 4 86139C> T null S F 180 180 missense 0.984 probably damaging 0.83 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782212133 4p16.3 4 86138T> C null S P 180 180 missense 0.907 possibly damaging 0.28 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782325659 4p16.3 4 86139C> A null S Y 180 180 missense 0.984 probably damaging 0.99 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs17857098 4p16.3 4 86145C> G null S * 182 182 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782019542 4p16.3 4 86144_86153delinsATCCACTGAAT G null S I 182 182 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs17857098 4p16.3 4 86145C> T null S L 182 182 missense 0.055 benign 0.51 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs386670357 4p16.3 4 86144_86146delinsGT T null S V 182 182 missense 0.007 benign 0.45 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801320 4p16.3 4 86147C> T null L F 183 183 missense 0.968 probably damaging 0.11 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1458436855 4p16.3 4 86150A> G null S G 184 184 missense 0.015 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs17857099 4p16.3 4 86151G> T null S I 184 184 0.0 missense 0.023 benign 0.17 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782773401 4p16.3 4 86149_86151delinsGA A null S N 184 184 missense 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs17857099 4p16.3 4 86151G> A null S N 184 184 0.0 missense 0.015 benign 0.2 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs386670358 4p16.3 4 86149_86153delinsGAAT G null S NE 184 185 missense 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,gnomAD rs17857100 4p16.3 4 86153A> G null K E 185 185 0.0 missense 0.955 probably damaging 0.71 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1368989295 4p16.3 4 86157A> T null H L 186 186 missense 0.829 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1368989295 4p16.3 4 86157A> G null H R 186 186 missense 0.829 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1056086482 4p16.3 4 86159A> G null K E 187 187 missense 0.953 probably damaging 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801350 4p16.3 4 86161G> T null K N 187 187 missense 0.978 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801353 4p16.3 4 86162A> G null R G 188 188 missense 0.938 probably damaging 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs200008935 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86163G> T null R I 188 188 missense 0.939 probably damaging 0.17 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs200008935 4p16.3 4 86163G> A null R K 188 188 missense 0.73 possibly damaging 0.19 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs200848445 4p16.3 4 86165A> T null I F 189 189 missense 0.103 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560094701 4p16.3 4 86166T> G null I S 189 189 missense 0.087 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801363 4p16.3 4 86168C> A null H N 190 190 missense 0.877 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782074315 4p16.3 4 86171A> G null T A 191 191 missense 0.0 benign 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1471520445 4p16.3 4 86180A> G null K E 194 194 missense 0.898 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,TOPMed,gnomAD rs370546751 4p16.3 4 86187A> G null Y C 196 196 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs111857169 4p16.3 4 86190C> A null T K 197 197 missense 0.006 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs111857169 4p16.3 4 86190C> G null T R 197 197 missense 0.165 benign 0.11 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801377 4p16.3 4 86196A> G null E G 199 199 missense 0.969 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782773229 4p16.3 4 86195G> A null E K 199 199 missense 0.953 probably damaging 0.38 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs112497500 4p16.3 4 86198G> T null E * 200 200 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs112497500 4p16.3 4 86198G> A null E K 200 200 missense 0.927 probably damaging 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781834436 4p16.3 4 86201T> A null C S 201 201 missense 0.87 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1287258618 4p16.3 4 86205G> C null G A 202 202 missense 0.973 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1287258618 4p16.3 4 86205G> A null G D 202 202 missense 0.994 probably damaging 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs549095895 4p16.3 4 86208A> G null K R 203 203 3.99E-4 missense 0.892 possibly damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs200616637 4p16.3 4 86210G> C null A P 204 204 missense 0.275 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs797039500 4p16.3 4 86217_86219delinsAT A null R N 206 206 missense 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1227084858 4p16.3 4 86217G> C null R T 206 206 missense 0.005 benign 0.31 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs561643785 4p16.3 4 86220G> A null R Q 207 207 2.0E-4 missense 0.011 benign 0.86 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs887165839 4p16.3 4 86219C> T null R W 207 207 missense 0.917 probably damaging 0.41 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782660675 4p16.3 4 86223C> T null S F 208 208 missense 0.983 probably damaging 0.4 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782660675 4p16.3 4 86223C> A null S Y 208 208 missense 0.983 probably damaging 0.39 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,NCI-TCGA,gnomAD rs782261022 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86226C> T null T I 209 209 missense 0.55 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1406040364 4p16.3 4 86229T> C null V A 210 210 missense 0.154 benign 0.67 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1323063466 4p16.3 4 86228G> A null V I 210 210 missense 0.201 benign 0.35 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,TOPMed,gnomAD rs192987210 4p16.3 4 86236C> G null N K 212 212 5.99E-4 missense 0.001 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1158965904 4p16.3 4 86238A> G null E G 213 213 missense 0.433 benign 0.17 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,NCI-TCGA,TOPMed,gnomAD rs782373036 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86237G> A null E K 213 213 missense 0.007 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1471002907 4p16.3 4 86241A> G null H R 214 214 missense 0.914 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs202202110 4p16.3 4 86247A> G null K R 216 216 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs200927625 4p16.3 4 86255A> G null T A 219 219 missense 0.371 benign 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1254296817 4p16.3 4 86261G> C null E Q 221 221 missense 0.712 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1032218774 4p16.3 4 86268C> G null P R 223 223 missense 0.972 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782336055 4p16.3 4 86271A> G null Y C 224 224 missense 0.983 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1207440942 4p16.3 4 86270T> G null Y D 224 224 missense 0.977 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1207440942 4p16.3 4 86270T> C null Y H 224 224 missense 0.965 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781928394 4p16.3 4 86275A> C null K N 225 225 missense 0.123 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs200189612 4p16.3 4 86274A> C null K T 225 225 2.0E-4 missense 0.047 benign 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs879949408 4p16.3 4 86279G> T null E * 227 227 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs879949408 4p16.3 4 86279G> A null E K 227 227 missense 0.0 benign 0.2 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs113081117 4p16.3 4 86282G> A null E K 228 228 missense 0.715 possibly damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782388615 4p16.3 4 86295C> G null A G 232 232 missense 0.079 benign 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1553801434 4p16.3 4 86294G> T null A S 232 232 missense 0.086 benign 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed rs201371259 4p16.3 4 86301C> A null T K 234 234 missense 0.037 benign 0.31 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed rs201371259 4p16.3 4 86301C> G null T R 234 234 missense 0.071 benign 0.2 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801443 4p16.3 4 86305G> T null R S 235 235 missense 0.015 benign 0.32 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs201648495 4p16.3 4 86303A> T null R W 235 235 2.0E-4 missense 0.345 benign 0.33 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781800904 4p16.3 4 86312A> G null T A 238 238 missense 0.025 benign 0.57 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs879994616 4p16.3 4 86313C> T null T I 238 238 missense 0.037 benign 0.35 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs879994616 4p16.3 4 86313C> G null T R 238 238 missense 0.148 benign 0.36 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781800904 4p16.3 4 86312A> T null T S 238 238 missense 0.047 benign 0.89 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781891070 4p16.3 4 86319A> G null N S 240 240 missense 0.371 benign 0.25 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782520627 4p16.3 4 86321G> A null E K 241 241 missense 0.062 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801462 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86330A> G null K E 244 244 missense 0.035 benign 0.14 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs879959787 4p16.3 4 86332A> T null K N 244 244 missense 0.095 benign 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781840656 4p16.3 4 86331A> G null K R 244 244 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801466 4p16.3 4 86333A> T null I F 245 245 missense 0.702 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801471 4p16.3 4 86343G> A null G E 248 248 missense 0.988 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782582534 4p16.3 4 86351C> G null P A 251 251 missense 0.003 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782582534 4p16.3 4 86351C> T null P S 251 251 missense 0.024 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782191095 4p16.3 4 86355A> G null Y C 252 252 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801479 4p16.3 4 86362T> G null C W 254 254 missense 0.984 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1186155234 4p16.3 4 86363A> G null K E 255 255 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1463993541 4p16.3 4 86365A> C null K N 255 255 missense 0.023 benign 0.15 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560095040 4p16.3 4 86366G> T null E * 256 256 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1218542597 4p16.3 4 86369T> C null C R 257 257 missense 0.103 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782430532 4p16.3 4 86370G> C null C S 257 257 missense 0.014 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782350052 4p16.3 4 86389G> A null W * 263 263 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs879946479 4p16.3 4 86388G> A null W * 263 263 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs879981925 4p16.3 4 86387T> C null W R 263 263 missense 0.934 probably damaging 0.43 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs879981925 4p16.3 4 86387T> A null W R 263 263 missense 0.934 probably damaging 0.43 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801505 4p16.3 4 86394C> T null T I 265 265 missense 0.047 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs17853554 4p16.3 4 86400T> C null L P 267 267 missense 0.949 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs17853554 4p16.3 4 86400T> A null L Q 267 267 missense 0.894 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782060421 4p16.3 4 86403A> G null N S 268 268 missense 0.371 benign 0.26 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801515 4p16.3 4 86409A> G null H R 270 270 missense 0.677 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1295594389 4p16.3 4 86408C> T null H Y 270 270 missense 0.68 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1227785143 4p16.3 4 86411A> G null K E 271 271 missense 0.801 possibly damaging 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199781175 4p16.3 4 86416T> A null N K 272 272 2.0E-4 missense 0.007 benign 0.33 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801520 4p16.3 4 86415A> G null N S 272 272 missense 0.017 benign 0.09 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs782384250 4p16.3 4 86417A> T null I F 273 273 missense 0.702 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782035201 4p16.3 4 86418T> C null I T 273 273 missense 0.702 possibly damaging 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1432776478 4p16.3 4 86421A> G null H R 274 274 missense 0.487 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs931571240 4p16.3 4 86424C> T null T I 275 275 missense 0.061 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801535 4p16.3 4 86427G> C null G A 276 276 missense 0.874 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1047032155 4p16.3 4 86429G> T null E * 277 277 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs908577675 4p16.3 4 86431G> T null E D 277 277 missense 0.371 benign 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs908577675 4p16.3 4 86431G> C null E D 277 277 missense 0.371 benign 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1047032155 4p16.3 4 86429G> A null E K 277 277 missense 0.715 possibly damaging 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1047032155 4p16.3 4 86429G> C null E Q 277 277 missense 0.712 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs944117394 4p16.3 4 86436C> T null P L 279 279 missense 0.958 probably damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1419605033 4p16.3 4 86435C> T null P S 279 279 missense 0.848 possibly damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs879983701 4p16.3 4 86447A> G null K E 283 283 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801549 4p16.3 4 86452A> C null E D 284 284 missense 0.013 benign 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,NCI-TCGA,gnomAD rs782101751 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86454G> A null C Y 285 285 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs899915790 4p16.3 4 86457G> C null G A 286 286 missense 0.023 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs899915790 4p16.3 4 86457G> T null G V 286 286 missense 0.424 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1472109008 4p16.3 4 86462G> A null A T 288 288 missense 0.0 benign 0.13 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801560 4p16.3 4 86463C> T null A V 288 288 missense 0.0 benign 0.11 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1212052058 4p16.3 4 86472A> G null Q R 291 291 missense 0.0 benign 0.68 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1486826569 4p16.3 4 86477A> G null R G 293 293 missense 0.003 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1204702803 4p16.3 4 86479G> C null R S 293 293 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1272828364 4p16.3 4 86478G> C null R T 293 293 missense 0.005 benign 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801572 4p16.3 4 86489G> T null E * 297 297 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801576 4p16.3 4 86493A> G null H R 298 298 missense 0.677 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781809106 4p16.3 4 86499A> T null N I 300 300 missense 0.102 benign 0.3 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781809106 4p16.3 4 86499A> G null N S 300 300 missense 0.017 benign 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1376921947 4p16.3 4 86502T> C null I T 301 301 missense 0.702 possibly damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801585 4p16.3 4 86501A> G null I V 301 301 missense 0.274 benign 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801588 4p16.3 4 86505A> C null H P 302 302 missense 0.83 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782438495 4p16.3 4 86508C> T null T I 303 303 missense 0.898 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782438495 4p16.3 4 86508C> G null T S 303 303 missense 0.371 benign 0.14 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801594 4p16.3 4 86510G> C null G R 304 304 missense 0.991 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1054039375 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86513G> A null E K 305 305 missense 0.727 possibly damaging 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs370276055 4p16.3 4 86518A> C null K N 306 306 missense 0.885 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801605 4p16.3 4 86520C> A null P H 307 307 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782462368 4p16.3 4 86525A> G null T A 309 309 missense 0.017 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782288087 4p16.3 4 86538G> T null C F 313 313 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782288087 4p16.3 4 86538G> A null C Y 313 313 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782402725 4p16.3 4 86541G> A null G D 314 314 missense 0.971 probably damaging 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782000925 4p16.3 4 86546G> A null A T 316 316 missense 0.0 benign 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782249415 4p16.3 4 86547C> T null A V 316 316 missense 0.01 benign 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782363057 4p16.3 4 86550T> G null F C 317 317 missense 0.932 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801629 4p16.3 4 86551T> A null F L 317 317 missense 0.464 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801635 4p16.3 4 86559C> T null S F 320 320 missense 0.131 benign 0.62 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1321139842 4p16.3 4 86562C> G null S * 321 321 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782719135 4p16.3 4 86564A> G null S G 322 322 missense 0.023 benign 0.46 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801641 4p16.3 4 86565G> C null S T 322 322 missense 0.0 benign 0.9 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375007613 4p16.3 4 86571T> C null I T 324 324 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782754501 4p16.3 4 86575A> G null I M 325 325 missense 0.038 benign 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801646 4p16.3 4 86573A> G null I V 325 325 missense 0.001 benign 0.38 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801652 4p16.3 4 86583G> A null S N 328 328 missense 0.015 benign 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801654 4p16.3 4 86597C> G null Q E 333 333 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782711480 4p16.3 4 86606T> G null Y D 336 336 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782711480 4p16.3 4 86606T> C null Y H 336 336 missense 0.927 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560095360 4p16.3 4 86611A> C null K N 337 337 missense 0.047 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1373612210 4p16.3 4 86610A> G null K R 337 337 missense 0.02 benign 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs991644014 4p16.3 4 86622G> C null C S 341 341 missense 0.568 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1433746745 4p16.3 4 86624G> C null G R 342 342 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,TOPMed,gnomAD rs368406865 4p16.3 4 86629A> C null K N 343 343 missense 0.885 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782674512 4p16.3 4 86630G> T null A S 344 344 missense 0.866 possibly damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782257438 4p16.3 4 86633T> C null F L 345 345 missense 0.655 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801686 4p16.3 4 86636A> C null T P 346 346 missense 0.031 benign 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782513460 4p16.3 4 86637C> G null T S 346 346 missense 0.005 benign 0.74 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782218155 4p16.3 4 86640G> A null W * 347 347 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801689 4p16.3 4 86639T> C null W R 347 347 missense 0.934 probably damaging 0.5 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782331287 4p16.3 4 86642T> G null S A 348 348 missense 0.262 benign 0.21 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1410341328 4p16.3 4 86645T> A null S T 349 349 missense 0.682 possibly damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1158938154 4p16.3 4 86648T> A null S T 350 350 missense 0.001 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801693 4p16.3 4 86651C> T null L F 351 351 missense 0.926 probably damaging 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs544057287 4p16.3 4 86661A> G null H R 354 354 2.0E-4 missense 0.677 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed rs372644520 4p16.3 4 86660C> T null H Y 354 354 missense 0.68 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1488236989 4p16.3 4 86663A> G null K E 355 355 missense 0.801 possibly damaging 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1253672287 4p16.3 4 86667G> A null R K 356 356 missense 0.538 possibly damaging 0.27 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs879968349 4p16.3 4 86672C> A null H N 358 358 missense 0.583 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782089413 4p16.3 4 86673A> G null H R 358 358 missense 0.487 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801700 4p16.3 4 86682A> G null E G 361 361 missense 0.063 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782340052 4p16.3 4 86688C> T null P L 363 363 missense 0.958 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs983028639 4p16.3 4 86687C> T null P S 363 363 missense 0.848 possibly damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs17857096 4p16.3 4 86694C> A null T K 365 365 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs17857096 4p16.3 4 86694C> G null T R 365 365 missense 0.012 benign 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781925509 4p16.3 4 86702G> T null E * 368 368 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs944002559 4p16.3 4 86705T> G null C G 369 369 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs944002559 4p16.3 4 86705T> C null C R 369 369 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs781902299 4p16.3 4 86714G> A null A T 372 372 missense 0.196 benign 0.15 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782770114 4p16.3 4 86722T> A null Y * 374 374 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782113308 4p16.3 4 86721A> G null Y C 374 374 missense 0.148 benign 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1308779309 4p16.3 4 86720T> A null Y N 374 374 missense 0.0 benign 0.97 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1326017287 4p16.3 4 86724G> A null R K 375 375 missense 0.062 benign 0.34 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1442419808 4p16.3 4 86725G> T null R S 375 375 missense 0.141 benign 0.36 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1366346015 4p16.3 4 86723A> T null R W 375 375 missense 0.794 possibly damaging 0.37 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1387099454 4p16.3 4 86733A> G null H R 378 378 missense 0.031 benign 0.37 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs879947821 4p16.3 4 86738G> T null A S 380 380 missense 0.037 benign 0.22 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs879947821 4p16.3 4 86738G> A null A T 380 380 missense 0.001 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1365909950 4p16.3 4 86742A> G null K R 381 381 missense 0.107 benign 0.66 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782484966 4p16.3 4 86745A> G null H R 382 382 missense 0.092 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782564877 4p16.3 4 86747A> G null K E 383 383 missense 0.953 probably damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781801889 4p16.3 4 86748A> G null K R 383 383 missense 0.953 probably damaging 0.14 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781801889 4p16.3 4 86748A> C null K T 383 383 missense 0.969 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801725 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86751G> T null R I 384 384 missense 0.263 benign 0.24 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782530556 4p16.3 4 86754T> C null I T 385 385 missense 0.923 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,NCI-TCGA,TOPMed,gnomAD rs782677217 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86756C> T null H Y 386 386 missense 0.831 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782348766 4p16.3 4 86759A> G null T A 387 387 missense 0.0 benign 0.05 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801730 4p16.3 4 86760C> A null T N 387 387 missense 0.23 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801734 4p16.3 4 86763G> C null G A 388 388 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782616417 4p16.3 4 86765G> A null E K 389 389 missense 0.927 probably damaging 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782616417 4p16.3 4 86765G> C null E Q 389 389 missense 0.926 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782181804 4p16.3 4 86769A> C null K T 390 390 missense 0.966 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782023653 4p16.3 4 86772C> A null P H 391 391 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782023653 4p16.3 4 86772C> T null P L 391 391 missense 0.992 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782023653 4p16.3 4 86772C> G null P R 391 391 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1395868262 4p16.3 4 86775A> G null Y C 392 392 missense 0.705 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801753 4p16.3 4 86774T> G null Y D 392 392 missense 0.541 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1195585278 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86777A> G null T A 393 393 missense 0.003 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782168531 4p16.3 4 86778C> T null T M 393 393 missense 0.182 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369964159 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86783G> A null E K 395 395 missense 0.956 probably damaging 0.3 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1262246754 4p16.3 4 86786G> C null E Q 396 396 missense 0.926 probably damaging 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782758942 4p16.3 4 86789T> C null C R 397 397 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP rs372476391 4p16.3 4 86790G> A null C Y 397 397 missense 0.983 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801772 4p16.3 4 86792G> A null G S 398 398 missense 0.99 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs575617079 4p16.3 4 86801T> C null F L 401 401 2.0E-4 missense 0.907 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1235873276 4p16.3 4 86804A> C null N H 402 402 missense 0.235 benign 0.09 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs369231604 4p16.3 4 86806C> G null N K 402 402 missense 0.117 benign 0.54 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782063218 4p16.3 4 86807C> A null Q K 403 403 missense 0.001 benign 0.49 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801777 4p16.3 4 86810T> C null S P 404 404 missense 0.48 possibly damaging 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801784 4p16.3 4 86813T> G null S A 405 405 missense 0.123 benign 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782792055 4p16.3 4 86816A> G null T A 406 406 missense 0.058 benign 0.9 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781901175 4p16.3 4 86817C> T null T I 406 406 missense 0.367 benign 0.51 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781901175 4p16.3 4 86817C> G null T S 406 406 missense 0.005 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1301483967 4p16.3 4 86820T> C null L P 407 407 missense 0.871 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781846317 4p16.3 4 86823T> A null I K 408 408 missense 0.021 benign 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782598971 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86824A> G null I M 408 408 missense 0.26 benign 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781846317 4p16.3 4 86823T> C null I T 408 408 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782285327 4p16.3 4 86825T> A null L I 409 409 missense 0.024 benign 0.33 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1042369364 4p16.3 4 86831A> G null K E 411 411 missense 0.953 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs543032319 4p16.3 4 86832A> G null K R 411 411 3.99E-4 missense 0.953 probably damaging 0.14 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801800 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86835G> T null R I 412 412 missense 0.971 probably damaging 0.31 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782636171 4p16.3 4 86836A> C null R S 412 412 missense 0.971 probably damaging 0.12 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782343736 4p16.3 4 86847G> C null G A 416 416 missense 0.973 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782343736 4p16.3 4 86847G> A null G E 416 416 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801804 4p16.3 4 86846G> T null G W 416 416 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs17853555 4p16.3 4 86849C> G null Q E 417 417 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs17853555 4p16.3 4 86849C> A null Q K 417 417 missense 0.0 benign 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782318080 4p16.3 4 86856C> T null P L 419 419 missense 0.261 benign 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801816 4p16.3 4 86859A> G null Y C 420 420 missense 0.902 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782013001 4p16.3 4 86858T> C null Y H 420 420 missense 0.872 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782162003 4p16.3 4 86861A> G null K E 421 421 missense 0.049 benign 0.19 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801820 4p16.3 4 86862A> C null K T 421 421 missense 0.003 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782757318 4p16.3 4 86867G> A null E K 423 423 missense 0.953 probably damaging 0.39 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782757318 4p16.3 4 86867G> C null E Q 423 423 missense 0.969 probably damaging 0.09 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1033777443 4p16.3 4 86873T> A null C S 425 425 missense 0.046 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781992127 4p16.3 4 86877G> A null G D 426 426 missense 0.994 probably damaging 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1429066861 4p16.3 4 86883C> A null A D 428 428 missense 0.799 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1429066861 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 86883C> T null A V 428 428 missense 0.144 benign 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,gnomAD rs528766593 4p16.3 4 86888A> T null T S 430 430 2.0E-4 missense 0.08 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs372905683 4p16.3 4 86892G> T null R L 431 431 missense 0.03 benign 0.74 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs372905683 4p16.3 4 86892G> A null R Q 431 431 missense 0.0 benign 0.85 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782719230 4p16.3 4 86891C> T null R W 431 431 missense 0.554 possibly damaging 0.36 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801841 4p16.3 4 86898C> T null T I 433 433 missense 0.203 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782806452 4p16.3 4 86900A> G null T A 434 434 missense 0.08 benign 0.93 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1339505649 4p16.3 4 86901C> A null T K 434 434 missense 0.117 benign 0.79 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782806452 4p16.3 4 86900A> T null T S 434 434 missense 0.058 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781855821 4p16.3 4 86903C> G null L V 435 435 missense 0.187 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782231540 4p16.3 4 86906A> G null N D 436 436 missense 0.046 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3789149 4p16.3 4 86908C> G null N K 436 436 0.2448 missense 0.142 benign 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs180742908 4p16.3 4 86907A> G null N S 436 436 0.001997 missense 0.009 benign 0.24 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782428017 4p16.3 4 86909G> A null E K 437 437 missense 0.001 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560095835 4p16.3 4 86913A> G null H R 438 438 missense 0.914 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801856 4p16.3 4 86915A> G null K E 439 439 missense 0.953 probably damaging 0.05 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs183670728 4p16.3 4 86916A> G null K R 439 439 3.99E-4 missense 0.953 probably damaging 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs61741919 4p16.3 4 86919A> G null K R 440 440 missense 0.003 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801864 4p16.3 4 86921A> T null I F 441 441 missense 0.923 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1414613831 4p16.3 4 86922T> C null I T 441 441 missense 0.923 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782255595 4p16.3 4 86925A> T null H L 442 442 missense 0.829 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1356500205 4p16.3 4 86924C> A null H N 442 442 missense 0.877 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782255595 4p16.3 4 86925A> G null H R 442 442 missense 0.829 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801875 4p16.3 4 86927A> T null T S 443 443 missense 0.751 possibly damaging 0.11 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1315056304 4p16.3 4 86931G> A null G D 444 444 missense 0.994 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373753380 4p16.3 4 86933G> A null E K 445 445 5.99E-4 missense 0.932 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs782003369 4p16.3 4 86936A> T null K * 446 446 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs782003369 4p16.3 4 86936A> G null K E 446 446 missense 0.633 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782073339 4p16.3 4 86940C> G null P R 447 447 missense 0.993 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782790797 4p16.3 4 86943A> G null Y C 448 448 missense 0.983 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55755847 4p16.3 4 86946A> G null K R 449 449 0.01298 missense 0.0 benign 0.09 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55755847 4p16.3 4 86946A> C null K T 449 449 0.01298 missense 0.006 benign 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs932740841 4p16.3 4 86950T> A null C * 450 450 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560095890 4p16.3 4 86948T> C null C R 450 450 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801890 4p16.3 4 86953A> T null E D 451 451 missense 0.006 benign 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1257929743 4p16.3 4 86951G> A null E K 451 451 missense 0.0 benign 0.35 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs371388773 4p16.3 4 86955A> G null E G 452 452 missense 0.847 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs371388773 4p16.3 4 86955A> T null E V 452 452 missense 0.775 possibly damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801892 4p16.3 4 86971C> A null F L 457 457 missense 0.655 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs781823059 4p16.3 4 86974A> G null I M 458 458 missense 0.063 benign 0.09 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1340844974 4p16.3 4 86973T> C null I T 458 458 missense 0.006 benign 0.43 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782795580 4p16.3 4 86972A> G null I V 458 458 missense 0.003 benign 0.22 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1233175685 4p16.3 4 86979C> T null S F 460 460 missense 0.92 probably damaging 0.18 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1264269716 4p16.3 4 86978T> A null S T 460 460 missense 0.226 benign 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs374778353 4p16.3 4 86981G> C null A P 461 461 missense 0.003 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs374778353 4p16.3 4 86981G> T null A S 461 461 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs374778353 4p16.3 4 86981G> A null A T 461 461 missense 0.0 benign 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1553801900 4p16.3 4 86986C> A null S R 462 462 missense 0.035 benign 0.27 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782542402 4p16.3 4 86988T> C null L P 463 463 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801902 4p16.3 4 86987C> G null L V 463 463 missense 0.696 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801904 4p16.3 4 86994A> T null E V 465 465 missense 0.031 benign 0.32 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200499473 4p16.3 4 86996C> A null H N 466 466 5.99E-4 missense 0.754 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782505791 4p16.3 4 86997A> G null H R 466 466 missense 0.677 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs879954236 4p16.3 4 87004T> A null N K 468 468 missense 0.0 benign 0.48 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1042253128 4p16.3 4 87006T> C null I T 469 469 missense 0.702 possibly damaging 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801910 4p16.3 4 87015G> C null G A 472 472 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801909 4p16.3 4 87014G> A null G R 472 472 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs906420093 4p16.3 4 87019G> T null E D 473 473 missense 0.751 possibly damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782595204 4p16.3 4 87022A> T null K N 474 474 missense 0.975 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801914 4p16.3 4 87027A> G null Y C 476 476 missense 0.963 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801914 4p16.3 4 87027A> T null Y F 476 476 missense 0.618 possibly damaging 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1162759823 4p16.3 4 87030A> G null K R 477 477 missense 0.003 benign 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1460839209 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 87033G> A null C Y 478 478 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs61745977 4p16.3 4 87035A> G null K E 479 479 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782333439 4p16.3 4 87038G> T null E * 480 480 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782673299 4p16.3 4 87039A> G null E G 480 480 missense 0.047 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1166868799 4p16.3 4 87042G> A null C Y 481 481 missense 0.92 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes rs566515764 4p16.3 4 87044G> A null G S 482 482 2.0E-4 missense 0.953 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782296372 4p16.3 4 87045G> T null G V 482 482 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782382504 4p16.3 4 87048A> G null K R 483 483 missense 0.618 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782002201 4p16.3 4 87060A> G null Q R 487 487 missense 0.491 possibly damaging 0.68 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782065919 4p16.3 4 87069G> A null G D 490 490 missense 0.038 benign 0.62 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs558920342 4p16.3 4 87068G> A null G S 490 490 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs781898625 4p16.3 4 87071C> T null L F 491 491 missense 0.957 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs781898625 4p16.3 4 87071C> G null L V 491 491 missense 0.696 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782104952 4p16.3 4 87075T> C null I T 492 492 missense 0.039 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs886196757 4p16.3 4 87074A> G null I V 492 492 missense 0.023 benign 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782785781 4p16.3 4 87079A> G null I M 493 493 missense 0.307 benign 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801935 4p16.3 4 87083A> G null R G 495 495 missense 0.087 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801936 4p16.3 4 87084G> A null R K 495 495 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801938 4p16.3 4 87086A> T null S C 496 496 missense 0.476 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188263332 4p16.3 4 87087G> A null S N 496 496 9.98E-4 missense 0.059 benign 0.11 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782592988 4p16.3 4 87089A> T null I F 497 497 missense 0.233 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782592988 4p16.3 4 87089A> G null I V 497 497 missense 0.0 benign 0.09 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801943 4p16.3 4 87095T> G null S A 499 499 missense 0.027 benign 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782638913 4p16.3 4 87099A> C null E A 500 500 missense 0.043 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782638913 4p16.3 4 87099A> T null E V 500 500 missense 0.274 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801946 4p16.3 4 87101C> G null Q E 501 501 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1280429534 4p16.3 4 87108T> C null L P 503 503 missense 0.001 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs375240508 4p16.3 4 87112C> G null Y * 504 504 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs371986253 4p16.3 4 87111A> G null Y C 504 504 missense 0.963 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs368185097 4p16.3 4 87110T> C null Y H 504 504 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs368185097 4p16.3 4 87110T> A null Y N 504 504 missense 0.927 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1441680244 4p16.3 4 87114A> G null K R 505 505 missense 0.04 benign 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782329115 4p16.3 4 87117G> C null C S 506 506 missense 0.836 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801952 4p16.3 4 87122G> A null E K 508 508 missense 0.715 possibly damaging 0.05 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782017456 4p16.3 4 87125T> G null C G 509 509 missense 0.746 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1395132937 4p16.3 4 87128G> C null G R 510 510 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782164319 4p16.3 4 87134G> A null A T 512 512 missense 0.908 possibly damaging 0.11 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782370546 4p16.3 4 87135C> T null A V 512 512 missense 0.866 possibly damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781809328 4p16.3 4 87144G> T null R L 515 515 missense 0.71 possibly damaging 0.67 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781809328 4p16.3 4 87144G> C null R P 515 515 missense 0.927 probably damaging 0.2 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781809328 4p16.3 4 87144G> A null R Q 515 515 missense 0.598 possibly damaging 0.81 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372290262 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 87143C> T null R W 515 515 missense 0.943 probably damaging 0.31 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs554631809 4p16.3 4 87152G> T null A S 518 518 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs554631809 4p16.3 4 87152G> A null A T 518 518 2.0E-4 missense 0.039 benign 0.99 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801980 4p16.3 4 87159A> T null N I 520 520 missense 0.322 benign 0.18 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,gnomAD rs374669706 4p16.3 4 87165A> G null H R 522 522 missense 0.914 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553801987 4p16.3 4 87164C> T null H Y 522 522 missense 0.915 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1207389937 4p16.3 4 87167A> T null K * 523 523 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1207389937 4p16.3 4 87167A> G null K E 523 523 missense 0.953 probably damaging 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs977438149 4p16.3 4 87168A> G null K R 523 523 missense 0.953 probably damaging 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781836817 4p16.3 4 87173A> T null I F 525 525 missense 0.923 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs954227732 4p16.3 4 87174T> C null I T 525 525 missense 0.923 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs781867765 4p16.3 4 87177A> G null H R 526 526 missense 0.829 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs879976423 4p16.3 4 87179T> A null S T 527 527 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782449625 4p16.3 4 87191C> T null P S 531 531 missense 0.966 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782270196 4p16.3 4 87195A> G null Y C 532 532 missense 0.992 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs915278489 4p16.3 4 87197A> G null K E 533 533 missense 0.098 benign 0.16 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782551488 4p16.3 4 87202C> G null C W 534 534 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782627869 4p16.3 4 87203A> G null K E 535 535 missense 0.001 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes rs572946725 4p16.3 4 87210G> A null C Y 537 537 2.0E-4 missense 0.983 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1302868139 4p16.3 4 87212G> T null G C 538 538 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560096285 4p16.3 4 87216A> G null K R 539 539 missense 0.948 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782338004 4p16.3 4 87222A> G null Y C 541 541 missense 0.634 possibly damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782198948 4p16.3 4 87224A> G null N D 542 542 missense 0.047 benign 0.12 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782425850 4p16.3 4 87226C> G null N K 542 542 missense 0.0 benign 0.56 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553802018 4p16.3 4 87228T> G null L * 543 543 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1305588397 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 87234C> T null S L 545 545 missense 0.058 benign 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs373846310 4p16.3 4 87233T> C null S P 545 545 missense 0.367 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs879999374 4p16.3 4 87236A> G null T A 546 546 missense 0.0 benign 0.79 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs879999374 4p16.3 4 87236A> T null T S 546 546 missense 0.01 benign 0.82 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782804433 4p16.3 4 87239C> T null L F 547 547 missense 0.832 possibly damaging 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782783861 4p16.3 4 87243C> T null T I 548 548 missense 0.013 benign 0.19 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782783861 4p16.3 4 87243C> G null T S 548 548 missense 0.0 benign 0.27 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs375240093 4p16.3 4 87247A> C null K N 549 549 missense 0.217 benign 0.27 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369572114 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 87249A> G null H R 550 550 missense 0.914 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781801131 4p16.3 4 87254A> T null R * 552 552 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781801131 4p16.3 4 87254A> G null R G 552 552 missense 0.2 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553802033 4p16.3 4 87259T> G null I M 553 553 missense 0.563 possibly damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs895065097 4p16.3 4 87264C> T null T I 555 555 missense 0.572 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553802042 4p16.3 4 87267G> A null G E 556 556 missense 0.826 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782528041 4p16.3 4 87266G> A null G R 556 556 missense 0.908 possibly damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782528041 4p16.3 4 87266G> C null G R 556 556 missense 0.908 possibly damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs781816050 4p16.3 4 87279T> A null F Y 560 560 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782531191 4p16.3 4 87284_87285ins A null C * 562 562 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781850863 4p16.3 4 87285G> T null C F 562 562 missense 0.398 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781850863 4p16.3 4 87285G> C null C S 562 562 missense 0.0 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1279963074 4p16.3 4 87288A> C null E A 563 563 missense 0.025 benign 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782596471 4p16.3 4 87292A> C null E D 564 564 missense 0.011 benign 0.07 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC rs782514952 4p16.3 4 87290G> A null E K 564 564 missense 0.03 benign 0.06 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782225316 4p16.3 4 87293T> C null C R 565 565 missense 0.204 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782432546 4p16.3 4 87297G> A null G D 566 566 missense 0.003 benign 0.08 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1272598241 4p16.3 4 87301A> C null K N 567 567 missense 0.944 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1214016772 4p16.3 4 87303C> A null A D 568 568 missense 0.958 probably damaging 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,gnomAD rs377671827 4p16.3 4 87302G> T null A S 568 568 missense 0.866 possibly damaging 0.05 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs1214016772 4p16.3 4 87303C> T null A V 568 568 missense 0.866 possibly damaging 0.05 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs879985331 4p16.3 4 87307C> A null F L 569 569 missense 0.464 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs532659434 4p16.3 4 87309A> G null N S 570 570 2.0E-4 missense 0.0 benign 0.82 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs879950203 4p16.3 4 87311T> C null W R 571 571 missense 0.063 benign 0.48 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs886165552 4p16.3 4 87314T> C null S P 572 572 missense 0.31 benign 0.19 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs782460125 4p16.3 4 87317T> C null S P 573 573 missense 0.204 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560096452 4p16.3 4 87320T> C null S P 574 574 missense 0.31 benign 0.14 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553802085 4p16.3 4 87323C> G null L V 575 575 missense 0.696 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs544811214 4p16.3 4 87329A> G null K E 577 577 3.99E-4 missense 0.005 benign 0.55 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes rs562901235 4p16.3 4 87330A> T null K I 577 577 3.99E-4 missense 0.102 benign 0.19 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781923830 4p16.3 4 87333A> C null H P 578 578 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs548352465 4p16.3 4 87338A> C null I L 580 580 3.99E-4 missense 0.003 benign 0.41 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed rs879994055 4p16.3 4 87339T> G null I R 580 580 missense 0.005 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs548352465 4p16.3 4 87338A> G null I V 580 580 3.99E-4 missense 0.005 benign 0.4 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,TOPMed,gnomAD rs566550835 4p16.3 4 87343T> G null I M 581 581 3.99E-4 missense 0.844 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782807213 4p16.3 4 87347A> G null T A 583 583 missense 0.371 benign 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553802104 4p16.3 4 87348C> T null T I 583 583 missense 0.898 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782807213 4p16.3 4 87347A> T null T S 583 583 missense 0.371 benign 0.1 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782028098 4p16.3 4 87356A> G null K E 586 586 missense 0.633 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs998446351 4p16.3 4 87359T> C null S P 587 587 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1028954442 4p16.3 4 87360C> A null S Y 587 587 missense 0.0 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 TOPMed,gnomAD rs1189031654 4p16.3 4 87365A> G null K E 589 589 missense 0.0 benign 0.19 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 gnomAD rs1553802115 4p16.3 4 87367A> C null K N 589 589 missense 0.038 benign 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782111018 4p16.3 4 87369G> A null C Y 590 590 missense 0.974 probably damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs781819688 4p16.3 4 87377T> C null C R 593 593 missense 0.045 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,dbSNP,gnomAD rs2006764 4p16.3 4 87387C> G null A G 596 596 0.0 missense 0.001 benign 0.04 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs781894376 4p16.3 4 87396G> A null R Q 599 599 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs537704335 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 87395C> T null R W 599 599 3.99E-4 missense 0.0 benign 0.19 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs549955248 4p16.3 4 87398C> T null P S 600 600 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,TOPMed rs535633151 4p16.3 4 87404A> T null T S 602 602 3.99E-4 missense 0.006 benign 0.98 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs954327623 4p16.3 4 87408T> A null L H 603 603 missense 0.978 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs954327623 4p16.3 4 87408T> G null L R 603 603 missense 0.971 probably damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62638705 4p16.3 4 87410A> G null T A 604 604 7.99E-4 missense 0.801 possibly damaging 0.25 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs370216758 4p16.3 4 87411C> T null T I 604 604 missense 0.934 probably damaging 0.34 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62638705 4p16.3 4 87410A> T null T S 604 604 7.99E-4 missense 0.801 possibly damaging 0.31 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782182256 4p16.3 4 87418C> G null H Q 606 606 missense 0.745 possibly damaging 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782612545 4p16.3 4 87417A> G null H R 606 606 missense 0.677 possibly damaging 0.01 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782327932 4p16.3 4 87420A> G null K R 607 607 missense 0.012 benign 0.21 tolerated 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed rs782667356 4p16.3 4 87422C> T null R * 608 608 stop gained 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed rs782295852 4p16.3 4 87423G> A null R Q 608 608 missense 0.0 benign 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs201757945 4p16.3 4 87426T> A null I N 609 609 missense 0.142 benign 0.02 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782366168 4p16.3 4 87429A> C null H P 610 610 missense 0.02 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs966768130 4p16.3 4 87434G> A null G S 612 612 missense 0.048 benign 0.0 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,gnomAD rs782075606 4p16.3 4 87438A> G null K R 613 613 missense 0.018 benign 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560096644 4p16.3 4 87442A> C null E D 614 614 missense 0.024 benign 0.03 deleterious 0 A0A075B7G4 ZNF595 Zinc finger protein 595 Ensembl rs1560096653 4p16.3 4 87443C> A null H N 615 615 missense 0.012 benign 0.03 deleterious - low confidence 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ExAC,TOPMed,gnomAD rs782352915 4p16.3 4 87444A> G null H R 615 615 missense 0.009 benign 0.02 deleterious - low confidence 0 A0A075B7G4 ZNF595 Zinc finger protein 595 ESP,ExAC,TOPMed,gnomAD rs374526814 4p16.3 4 87450G> T null * L 617 617 stop lost 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1261611420 19p12 19 21765782T> A null D V 3 3 missense 0.698 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs767156995 19p12 19 21765779G> A null P L 4 4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs767156995 19p12 19 21765779G> C null P R 4 4 missense 0.109 benign 0.04 deleterious - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs768166189 19p12 19 21765777T> A null R W 5 5 missense 0.777 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs763402846 19p12 19 21765773T> C null Y C 6 6 missense 0.518 possibly damaging 0.13 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,gnomAD rs770295966 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p12 19 21765766C> T null M I 8 8 missense 0.003 benign 0.3 tolerated - low confidence 1 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1215983139 19p12 19 21765767A> G null M T 8 8 missense 0.009 benign 0.13 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12974842 19p12 19 21765768T> C null M V 8 8 0.07228 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs746229834 19p12 19 21765765A> G null C R 9 9 missense 0.203 benign 0.23 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs746229834 19p12 19 21765765A> T null C S 9 9 missense 0.068 benign 0.61 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1328129021 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21765764C> T null C Y 9 9 missense 0.001 benign 0.58 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs777032401 19p12 19 21765761G> A null P L 10 10 missense 0.311 benign 0.0 deleterious - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1424534598 19p12 19 21765762G> A null P S 10 10 missense 0.012 benign 0.01 deleterious - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1334382986 19p12 19 21765759G> A null L F 11 11 missense 0.007 benign 0.05 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed rs377502978 19p12 19 21765752C> G null G A 13 13 missense 0.373 benign 0.76 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1408258065 19p12 19 21765740C> T null C Y 17 17 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116085361 19p12 19 21765724C> G null R S 22 22 0.01098 missense 0.121 benign 0.75 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs201163370 19p12 19 21765722C> T null S N 23 23 2.0E-4 missense 0.0 benign 0.56 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1203431457 19p12 19 21765720G> A null L F 24 24 missense 0.003 benign 0.16 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs569230674 19p12 19 21765711G> A null Q * 27 27 2.0E-4 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs550860903 19p12 19 21765709C> G null Q H 27 27 2.0E-4 missense 0.0 benign 0.54 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs550860903 19p12 19 21765709C> A null Q H 27 27 2.0E-4 missense 0.0 benign 0.54 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1284787519 19p12 19 21765707G> A null S F 28 28 missense 0.684 possibly damaging 0.27 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1374246144 19p12 19 21765708A> G null S P 28 28 missense 0.801 possibly damaging 0.11 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1384891417 19p12 19 21765704T> A null Y F 29 29 missense 0.0 benign 0.76 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs952805288 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21765697T> G null E D 31 31 missense 0.006 benign 0.09 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs760149829 19p12 19 21745064G> A null P S 34 34 missense 0.547 possibly damaging 0.61 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs542591739 19p12 19 21745057G> A null T M 36 36 missense 0.96 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs774439610 19p12 19 21745048T> C null D G 39 39 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs924681185 19p12 19 21745043C> A null A S 41 41 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs199892078 19p12 19 21745037C> A null E * 43 43 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1283556221 19p12 19 21745030G> A null S F 45 45 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs745812174 19p12 19 21745028G> C null L V 46 46 missense 0.995 probably damaging 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs770691034 19p12 19 21745020C> G null E D 48 48 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs781128295 19p12 19 21745021T> C null E G 48 48 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1343102575 19p12 19 21745022C> T null E K 48 48 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1489834287 19p12 19 21745005G> T null D E 53 53 missense 0.624 possibly damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs921287779 19p12 19 21745006T> C null D G 53 53 missense 0.641 possibly damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs777340238 19p12 19 21745001C> T null A T 55 55 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1178885272 19p12 19 21744997T> C null Q R 56 56 missense 0.392 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1233241523 19p12 19 21744995G> C null Q E 57 57 missense 0.153 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs758144796 19p12 19 21744991C> A null G V 58 58 missense 0.742 possibly damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs752355960 19p12 19 21744988A> G null L S 59 59 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs778568268 19p12 19 21744985T> C null Y C 60 60 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs754477535 19p12 19 21744982C> T null R K 61 61 missense 0.469 possibly damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1202299333 19p12 19 21744979T> G null K T 62 62 missense 0.635 possibly damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1175646089 19p12 19 21744976A> C null V G 63 63 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs200670888 19p12 19 21744977C> T null V M 63 63 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,gnomAD rs376068938 19p12 19 21744972C> G null M I 64 64 missense 0.974 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,gnomAD rs376068938 19p12 19 21744972C> T null M I 64 64 missense 0.974 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs760989832 19p12 19 21744973A> G null M T 64 64 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs369371546 19p12 19 21744974T> C null M V 64 64 missense 0.959 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1223821558 19p12 19 21744970A> C null L * 65 65 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs767823595 19p12 19 21744971A> C null L V 65 65 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1568302160 19p12 19 21744966C> G null E D 66 66 missense 0.994 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187140552 19p12 19 21744960G> T null Y * 68 68 3.99E-4 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs768738116 19p12 19 21744956T> G null N H 70 70 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs770879595 19p12 19 21744949A> C null V G 72 72 missense 0.392 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1294617103 19p12 19 21744107C> T null A T 77 77 missense 0.716 possibly damaging 0.07 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs199580880 19p12 19 21744104G> A null L F 78 78 0.001198 missense 0.179 benign 0.08 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs199580880 19p12 19 21744104G> C null L V 78 78 0.001198 missense 0.0 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs200230432 19p12 19 21744101T> A null T S 79 79 0.001198 missense 0.011 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1384193067 19p12 19 21744088A> G null L P 83 83 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1384193067 19p12 19 21744088A> C null L R 83 83 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1360131204 19p12 19 21744082G> C null T S 85 85 missense 0.144 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1175701054 19p12 19 21744079C> A null C F 86 86 missense 0.311 benign 0.1 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1345845343 19p12 19 21744074C> T null E K 88 88 missense 0.384 benign 0.07 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1425353821 19p12 19 21744058G> A null P L 93 93 missense 0.804 possibly damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs748847616 19p12 19 21744055C> T null W * 94 94 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1165427141 19p12 19 21744054C> G null W C 94 94 missense 0.946 probably damaging 0.1 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs779649378 19p12 19 21744053T> C null N D 95 95 missense 0.234 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1367687778 19p12 19 21744051A> C null N K 95 95 missense 0.318 benign 0.07 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1406150917 19p12 19 21744050T> C null I V 96 96 missense 0.0 benign 0.44 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1285548810 cosmic curated [Cosmic]: NS pubmed:22722201,cosmic_study:385 19p12 19 21744043C> G null R T 98 98 missense 0.22 benign 0.04 deleterious 1 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs755515213 19p12 19 21744040T> C null H R 99 99 missense 0.006 benign 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs977094543 19p12 19 21744032C> T null V I 102 102 missense 0.019 benign 0.15 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs977094543 19p12 19 21744032C> G null V L 102 102 missense 0.2 benign 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,TOPMed,gnomAD rs746401806 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21744022G> A null P L 105 105 missense 0.804 possibly damaging 0.08 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1296624275 cosmic curated [Cosmic]: liver cosmic_study:322 19p12 19 21727985T> C null I M 108 108 missense 0.046 benign 1.0 tolerated 1 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1209367405 19p12 19 21727986A> G null I T 108 108 missense 0.009 benign 0.25 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1363830654 19p12 19 21727984A> G null C R 109 109 missense 0.281 benign 0.1 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs375616395 19p12 19 21727977T> C null H R 111 111 missense 0.302 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1488860592 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727978G> A null H Y 111 111 missense 0.628 possibly damaging 0.25 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1238009323 19p12 19 21727973A> T null F L 112 112 missense 0.027 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,TOPMed,gnomAD rs371423755 19p12 19 21727974A> T null F Y 112 112 missense 0.79 possibly damaging 0.05 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed rs201183512 19p12 19 21727972G> C null P A 113 113 missense 0.0 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs755121202 19p12 19 21727965T> C null D G 115 115 missense 0.7 possibly damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1200051822 19p12 19 21727957C> A null A S 118 118 missense 0.068 benign 0.05 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1200051822 19p12 19 21727957C> T null A T 118 118 missense 0.093 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed rs766521107 19p12 19 21727951G> A null Q * 120 120 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs761877511 19p12 19 21727948C> G null D H 121 121 missense 0.849 possibly damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs763965681 19p12 19 21727945T> G null I L 122 122 missense 0.99 probably damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs762643210 19p12 19 21727943A> C null I M 122 122 missense 0.999 probably damaging 0.13 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs763965681 19p12 19 21727945T> C null I V 122 122 missense 0.99 probably damaging 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs926003316 19p12 19 21727937A> T null D E 124 124 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,gnomAD rs775281937 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727935G> T null S Y 125 125 missense 0.857 possibly damaging 0.05 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs111519833 19p12 19 21727923G> T null A E 129 129 2.0E-4 missense 0.007 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs111519833 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727923G> A null A V 129 129 2.0E-4 missense 0.001 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1159780426 19p12 19 21727920A> G null I T 130 130 missense 0.474 possibly damaging 0.24 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs776148377 19p12 19 21727908T> C null Y C 134 134 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,TOPMed,gnomAD rs377709566 19p12 19 21727909A> G null Y H 134 134 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs770361488 19p12 19 21727899T> C null Y C 137 137 missense 0.003 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,gnomAD rs747526452 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21727893T> C null H R 139 139 missense 0.72 possibly damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs778127835 19p12 19 21727889G> T null D E 140 140 missense 0.007 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs554699989 19p12 19 21727887T> C null N S 141 141 2.0E-4 missense 0.167 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs199497783 19p12 19 21727881T> C null Q R 143 143 3.99E-4 missense 0.993 probably damaging 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1246569741 19p12 19 21727878A> G null L S 144 144 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs754077148 19p12 19 21727869C> G null G A 147 147 missense 0.734 possibly damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs755175056 19p12 19 21727870C> T null G S 147 147 missense 0.731 possibly damaging 0.16 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs780289516 19p12 19 21727866C> T null C Y 148 148 missense 0.009 benign 0.13 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs751608486 19p12 19 21727864T> A null K * 149 149 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs369236200 19p12 19 21727863T> A null K I 149 149 5.99E-4 missense 0.739 possibly damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1314807339 19p12 19 21727860C> T null S N 150 150 missense 0.707 possibly damaging 0.11 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1289915167 19p12 19 21727853A> T null D E 152 152 missense 0.019 benign 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs762849244 19p12 19 21727854T> A null D V 152 152 missense 0.742 possibly damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs759191886 19p12 19 21727850C> G null E D 153 153 missense 0.995 probably damaging 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,gnomAD rs752413588 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727852C> T null E K 153 153 missense 0.997 probably damaging 0.05 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1475887943 19p12 19 21727851T> A null E V 153 153 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1191718470 19p12 19 21727849A> G null C R 154 154 missense 0.672 possibly damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs556729482 19p12 19 21727848C> T null C Y 154 154 5.99E-4 missense 0.009 benign 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs770484313 19p12 19 21727845T> C null K R 155 155 missense 0.108 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1223148069 19p12 19 21727843C> G null V L 156 156 missense 0.003 benign 0.13 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs773806021 19p12 19 21727839T> G null H P 157 157 missense 0.904 possibly damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs760173203 19p12 19 21727840G> A null H Y 157 157 missense 0.009 benign 0.13 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs868730387 19p12 19 21727837T> C null K E 158 158 missense 0.997 probably damaging 0.13 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1027362783 19p12 19 21727831G> C null H D 160 160 missense 0.0 benign 0.1 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114080912 19p12 19 21727824T> C null N S 162 162 0.002596 missense 0.442 benign 0.08 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs370307902 19p12 19 21727821T> C null K R 163 163 missense 0.234 benign 0.21 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs370307902 19p12 19 21727821T> G null K T 163 163 missense 0.474 possibly damaging 0.14 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1014060024 19p12 19 21727818A> C null L * 164 164 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11556742 19p12 19 21727819A> C null L V 164 164 0.01837 missense 0.539 possibly damaging 0.13 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs546263430 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p12 19 21727804T> C null I V 169 169 2.0E-4 missense 0.003 benign 0.01 deleterious 1 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1056267176 19p12 19 21727801T> C null T A 170 170 missense 0.997 probably damaging 0.18 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs777816432 19p12 19 21727797G> A null T I 171 171 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs777816432 19p12 19 21727797G> C null T S 171 171 missense 0.997 probably damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs758290562 19p12 19 21727795G> A null Q * 172 172 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1168796900 19p12 19 21727790G> T null S R 173 173 missense 0.011 benign 0.13 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1477583435 19p12 19 21727788T> C null N S 174 174 missense 0.167 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs752612576 19p12 19 21727786T> C null I V 175 175 missense 0.034 benign 0.22 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,NCI-TCGA,TOPMed,gnomAD rs373244973 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727780G> T null Q K 177 177 missense 0.108 benign 0.08 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1347463679 19p12 19 21727773T> A null D V 179 179 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1220676273 19p12 19 21727770G> A null P L 180 180 missense 0.302 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs765982697 19p12 19 21727767G> A null S F 181 181 missense 0.028 benign 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,gnomAD rs200390370 19p12 19 21727762T> G null K Q 183 183 2.0E-4 missense 0.156 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs767010824 19p12 19 21727752T> C null H R 186 186 missense 0.281 benign 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1568288371 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727753G> A null H Y 186 186 missense 0.003 benign 0.24 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1364821795 19p12 19 21727749G> C null T R 187 187 missense 0.167 benign 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs369205751 19p12 19 21727747A> G null F L 188 188 missense 0.003 benign 0.16 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs749669707 19p12 19 21727741T> C null N D 190 190 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs540273639 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 19p12 19 21727737G> C null S * 191 191 missense 1 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs540273639 19p12 19 21727737G> A null S L 191 191 missense 0.014 benign 0.27 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,gnomAD rs567241411 19p12 19 21727735T> C null N D 192 192 2.0E-4 missense 0.997 probably damaging 0.11 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1178736367 19p12 19 21727725T> C null K R 195 195 missense 0.397 benign 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs376582989 19p12 19 21727722A> G null I T 196 196 missense 0.003 benign 0.46 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1424496811 19p12 19 21727723T> C null I V 196 196 missense 0.102 benign 0.24 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1196495681 19p12 19 21727716T> C null H R 198 198 missense 0.02 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs746055850 19p12 19 21727714T> C null T A 199 199 missense 0.325 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1263401768 19p12 19 21727706C> A null K N 201 201 missense 0.999 probably damaging 0.14 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1211753760 19p12 19 21727704T> G null K T 202 202 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1277218283 19p12 19 21727701G> C null P R 203 203 missense 0.38 benign 0.05 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs781162976 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19p12 19 21727702G> T null P T 203 203 missense 0.003 benign 0.26 tolerated 1 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs748091420 19p12 19 21727692C> T null C Y 206 206 missense 0.07 benign 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,gnomAD rs548747240 19p12 19 21727689T> C null K R 207 207 2.0E-4 missense 0.574 possibly damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs911429087 19p12 19 21727685T> G null K N 208 208 missense 0.474 possibly damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs778817979 19p12 19 21727684A> G null C R 209 209 missense 0.9 possibly damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1338977666 19p12 19 21727683C> T null C Y 209 209 missense 0.93 probably damaging 0.14 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1464672687 19p12 19 21727680T> C null E G 210 210 missense 0.009 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1159019941 19p12 19 21727674G> T null S * 212 212 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1159921693 19p12 19 21727672A> T null F I 213 213 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs986281978 19p12 19 21727666T> C null M V 215 215 missense 0.045 benign 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs202116657 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727663G> T null L I 216 216 missense 0.827 possibly damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1328991578 19p12 19 21727659A> C null L * 217 217 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1435384325 19p12 19 21727658T> G null L F 217 217 missense 0.961 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1382071877 19p12 19 21727660A> T null L I 217 217 missense 0.827 possibly damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1176653661 19p12 19 21727655G> T null H Q 218 218 missense 0.703 possibly damaging 0.25 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs951833415 19p12 19 21727650G> A null T I 220 220 missense 0.577 possibly damaging 0.16 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,gnomAD rs755791642 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727648G> C null Q E 221 221 missense 0.009 benign 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs369956027 19p12 19 21727644T> C null H R 222 222 missense 0.988 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1287543640 19p12 19 21727641T> C null K R 223 223 missense 0.487 possibly damaging 0.05 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,TOPMed,gnomAD rs766952300 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 19p12 19 21727639T> C null R G 224 224 missense 0.0 benign 0.13 tolerated 1 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1205534765 19p12 19 21727638C> T null R K 224 224 missense 0.054 benign 0.39 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1568288086 19p12 19 21727637T> A null R S 224 224 missense 0.009 benign 0.15 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs761377722 19p12 19 21727636A> C null F V 225 225 missense 0.001 benign 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs376653120 19p12 19 21727632T> C null H R 226 226 missense 0.988 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1471621094 19p12 19 21727630T> C null I V 227 227 missense 0.014 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs764666852 19p12 19 21727626G> A null T I 228 228 missense 0.653 possibly damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs763461011 19p12 19 21727623T> A null E V 229 229 missense 0.996 probably damaging 0.21 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1378680597 19p12 19 21727620T> C null N S 230 230 missense 0.539 possibly damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1419126267 19p12 19 21727618A> G null S P 231 231 missense 0.027 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1476510347 19p12 19 21727615A> G null Y H 232 232 missense 0.999 probably damaging 0.05 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs776021252 19p12 19 21727606T> C null K E 235 235 missense 0.006 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1024156329 19p12 19 21727593T> C null K R 239 239 missense 0.993 probably damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs770244846 19p12 19 21727588A> G null F L 241 241 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs770244846 19p12 19 21727588A> C null F V 241 241 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs746090261 19p12 19 21727587A> T null F Y 241 241 missense 0.995 probably damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs770983472 19p12 19 21727583G> T null N K 242 242 missense 0.641 possibly damaging 0.41 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1421725879 19p12 19 21727584T> C null N S 242 242 missense 0.084 benign 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs894304040 19p12 19 21727581C> T null W * 243 243 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1489002010 19p12 19 21727576A> G null S P 245 245 missense 0.897 possibly damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs778867351 19p12 19 21727572G> A null T I 246 246 missense 0.888 possibly damaging 0.29 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1055671075 19p12 19 21727569A> C null L R 247 247 missense 0.974 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs183260631 19p12 19 21727567T> C null T A 248 248 2.0E-4 missense 0.005 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs183260631 19p12 19 21727567T> G null T P 248 248 2.0E-4 missense 0.685 possibly damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs904620585 19p12 19 21727564T> C null T A 249 249 missense 0.221 benign 0.13 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1042088548 19p12 19 21727563G> T null T K 249 249 missense 0.106 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs750103962 19p12 19 21727554C> A null R I 252 252 missense 0.024 benign 0.37 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs780897383 19p12 19 21727545G> A null T I 255 255 missense 0.999 probably damaging 0.07 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs751092854 19p12 19 21727540C> T null E K 257 257 missense 0.995 probably damaging 0.11 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs751092854 19p12 19 21727540C> G null E Q 257 257 missense 0.997 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs368976801 19p12 19 21727536T> C null K R 258 258 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs754984560 19p12 19 21727529G> C null Y * 260 260 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs946013264 19p12 19 21727530T> A null Y F 260 260 missense 0.993 probably damaging 0.08 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs763587441 19p12 19 21727525A> G null C R 262 262 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1486928235 19p12 19 21727523A> C null C W 262 262 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs753189982 19p12 19 21727522C> T null E K 263 263 missense 0.997 probably damaging 0.16 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1368421360 19p12 19 21727518T> G null E A 264 264 missense 0.368 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs765753867 19p12 19 21727519C> G null E Q 264 264 missense 0.022 benign 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1041314285 19p12 19 21727503A> C null F C 269 269 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs760756338 19p12 19 21727501T> A null N Y 270 270 missense 0.807 possibly damaging 0.05 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs942974310 19p12 19 21727498G> C null R G 271 271 missense 0.323 benign 0.22 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,TOPMed,gnomAD rs773307079 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727497C> T null R Q 271 271 missense 0.003 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs942974310 19p12 19 21727498G> A null R W 271 271 missense 0.859 possibly damaging 0.44 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs749240470 19p12 19 21727494G> A null S F 272 272 missense 0.893 possibly damaging 0.24 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs763213261 19p12 19 21727491G> A null S L 273 273 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs756957018 19p12 19 21727489G> C null H D 274 274 missense 0.069 benign 0.16 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs756957018 19p12 19 21727489G> T null H N 274 274 missense 0.003 benign 0.87 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs879245482 19p12 19 21727488T> G null H P 274 274 missense 0.232 benign 0.12 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs756957018 19p12 19 21727489G> A null H Y 274 274 missense 0.236 benign 0.57 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1277689140 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727479G> T null T K 277 277 missense 0.407 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs372234111 19p12 19 21727476T> C null H R 278 278 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs375288548 19p12 19 21727477G> A null H Y 278 278 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1198814414 19p12 19 21727469T> C null I M 280 280 missense 0.795 possibly damaging 0.07 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes rs532723257 19p12 19 21727470A> C null I R 280 280 2.0E-4 missense 0.007 benign 0.87 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1331772190 19p12 19 21727463A> T null H Q 282 282 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs754247948 19p12 19 21727464T> C null H R 282 282 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs759866252 19p12 19 21727465G> A null H Y 282 282 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs766608060 19p12 19 21727462T> C null T A 283 283 missense 0.232 benign 0.07 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs760953645 19p12 19 21727461G> A null T I 283 283 missense 0.947 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs766608060 19p12 19 21727462T> A null T S 283 283 missense 0.369 benign 0.1 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1466804077 19p12 19 21727453T> C null K E 286 286 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs772201200 19p12 19 21727449G> A null P L 287 287 missense 1.0 probably damaging 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,TOPMed,gnomAD rs773362638 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p12 19 21727450G> T null P T 287 287 missense 1.0 probably damaging 0.0 deleterious 1 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs878963493 19p12 19 21727443C> T null R K 289 289 missense 0.007 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs772854789 19p12 19 21727440C> T null C Y 290 290 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1378799394 19p12 19 21727431C> T null C Y 293 293 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs565493584 19p12 19 21727426T> C null K E 295 295 3.99E-4 missense 0.433 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1180863123 19p12 19 21727413C> T null R Q 299 299 missense 0.029 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs558325819 19p12 19 21727414G> A null R W 299 299 missense 0.968 probably damaging 0.34 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1456645395 19p12 19 21727405G> A null H Y 302 302 missense 0.608 possibly damaging 0.86 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs745745226 19p12 19 21727402G> T null L I 303 303 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1204501060 19p12 19 21727392T> C null H R 306 306 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs878915541 19p12 19 21727388T> A null K N 307 307 missense 0.798 possibly damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1254267034 19p12 19 21727389T> C null K R 307 307 missense 0.034 benign 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1231051270 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:375,cosmic_study:419 19p12 19 21727386C> A null R I 308 308 missense 0.006 benign 0.93 tolerated 1 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs770566763 19p12 19 21727380T> A null H L 310 310 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs770566763 19p12 19 21727380T> G null H P 310 310 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs746675141 19p12 19 21727377G> A null T I 311 311 missense 0.771 possibly damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs746675141 19p12 19 21727377G> T null T N 311 311 missense 0.405 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs777638175 cosmic curated [Cosmic]: lung cosmic_study:418 19p12 19 21727371A> T null V E 313 313 missense 0.003 benign 1.0 tolerated 1 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs777561877 19p12 19 21727369T> C null K E 314 314 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1403796818 19p12 19 21727363A> T null Y N 316 316 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1466011710 19p12 19 21727360T> G null K Q 317 317 missense 0.142 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1304367288 19p12 19 21727359T> C null K R 317 317 missense 0.01 benign 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,TOPMed,gnomAD rs561332873 19p12 19 21727354T> C null T A 319 319 3.99E-4 missense 0.167 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs542695983 19p12 19 21727353G> T null T K 319 319 2.0E-4 missense 0.009 benign 0.14 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1237882634 19p12 19 21727349T> A null E D 320 320 missense 0.97 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes rs191905918 19p12 19 21727348A> C null C G 321 321 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs754227835 cosmic curated [Cosmic]: breast cosmic_study:414 19p12 19 21727344C> T null G D 322 322 missense 1.0 probably damaging 0.04 deleterious 1 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,gnomAD rs367976401 19p12 19 21727339C> T null A T 324 324 missense 0.999 probably damaging 0.08 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs971809049 19p12 19 21727333T> C null N D 326 326 missense 0.547 possibly damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1286693289 19p12 19 21727329C> T null R Q 327 327 missense 0.015 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs764040283 19p12 19 21727330G> A null R W 327 327 missense 0.036 benign 0.55 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs759524317 19p12 19 21727326G> A null S F 328 328 missense 0.999 probably damaging 0.27 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138292237 19p12 19 21727323G> T null S * 329 329 0.006989 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs773047950 19p12 19 21727321G> C null H D 330 330 missense 0.44 benign 0.21 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs773047950 19p12 19 21727321G> T null H N 330 330 missense 0.365 benign 0.66 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs771873478 19p12 19 21727320T> G null H P 330 330 missense 0.715 possibly damaging 0.13 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1394967136 19p12 19 21727319G> C null H Q 330 330 missense 0.529 possibly damaging 0.25 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs747759961 19p12 19 21727317A> C null L R 331 331 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs778486246 19p12 19 21727315T> G null T P 332 332 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1568286971 19p12 19 21727314G> C null T S 332 332 missense 0.645 possibly damaging 0.23 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1221066219 19p12 19 21727312T> C null T A 333 333 missense 0.299 benign 0.51 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs754385237 19p12 19 21727311G> A null T I 333 333 missense 0.923 probably damaging 0.14 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs749862308 19p12 19 21727307G> C null H Q 334 334 missense 0.996 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs780422889 19p12 19 21727305C> T null R K 335 335 missense 0.007 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs780422889 19p12 19 21727305C> A null R M 335 335 missense 0.922 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs756513704 19p12 19 21727304C> A null R S 335 335 missense 0.392 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs750767882 19p12 19 21727302A> C null I R 336 336 missense 0.027 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1366960251 19p12 19 21727303T> C null I V 336 336 missense 0.506 possibly damaging 0.55 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs767825404 19p12 19 21727299A> G null I T 337 337 missense 0.034 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1385356822 19p12 19 21727300T> C null I V 337 337 missense 0.216 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs757501889 19p12 19 21727294T> C null T A 339 339 missense 0.007 benign 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs552929373 19p12 19 21727290C> T null G E 340 340 2.0E-4 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs552929373 19p12 19 21727290C> A null G V 340 340 2.0E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs200470015 19p12 19 21727282G> C null P A 343 343 missense 0.991 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs200470015 19p12 19 21727282G> T null P T 343 343 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1228648980 19p12 19 21727278T> C null Y C 344 344 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs776668043 19p12 19 21727268T> G null E D 347 347 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs760640271 19p12 19 21727267C> A null E * 348 348 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs760640271 19p12 19 21727267C> T null E K 348 348 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs760640271 19p12 19 21727267C> G null E Q 348 348 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1243525790 19p12 19 21727264A> G null C R 349 349 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs773172516 19p12 19 21727262A> C null C W 349 349 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs771922587 19p12 19 21727257T> C null K R 351 351 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1398765687 19p12 19 21727255C> T null A T 352 352 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs761566943 19p12 19 21727245T> C null Q R 355 355 missense 0.203 benign 0.67 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1324730158 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19p12 19 21727242G> A null S F 356 356 missense 0.046 benign 0.35 tolerated 1 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs773858506 19p12 19 21727243A> G null S P 356 356 missense 0.778 possibly damaging 0.08 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,gnomAD rs375388502 19p12 19 21727239G> A null S L 357 357 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1489246081 19p12 19 21727236G> T null T N 358 358 missense 0.779 possibly damaging 0.48 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs748718961 19p12 19 21727233A> G null L P 359 359 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1411990640 19p12 19 21727234G> C null L V 359 359 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs770312536 19p12 19 21727228T> C null T A 361 361 missense 0.147 benign 0.17 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1266272170 19p12 19 21727223A> C null H Q 362 362 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200130339 19p12 19 21727224T> C null H R 362 362 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs757561601 19p12 19 21727217T> C null I M 364 364 missense 0.822 possibly damaging 0.2 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,TOPMed rs183650138 19p12 19 21727218A> G null I T 364 364 3.99E-4 missense 0.493 possibly damaging 0.33 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1425961182 19p12 19 21727219T> C null I V 364 364 missense 0.02 benign 0.45 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,TOPMed,gnomAD rs751868937 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727215G> A null T I 365 365 missense 0.001 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs758553067 19p12 19 21727211A> T null H Q 366 366 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs752741068 19p12 19 21727210C> T null A T 367 367 missense 0.084 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1351443170 19p12 19 21727207C> T null G R 368 368 missense 0.342 benign 0.07 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1456224188 19p12 19 21727203T> C null E G 369 369 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1222162457 19p12 19 21727198G> C null P A 371 371 missense 0.232 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1453115268 19p12 19 21727197G> T null P H 371 371 missense 0.973 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,gnomAD rs200562191 19p12 19 21727193G> C null Y * 372 372 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1212744803 19p12 19 21727195A> T null Y N 372 372 missense 0.98 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs750324077 19p12 19 21727191T> C null K R 373 373 missense 0.993 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs767474709 19p12 19 21727170G> C null A G 380 380 missense 0.034 benign 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs767474709 19p12 19 21727170G> A null A V 380 380 missense 0.819 possibly damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1568286525 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p12 19 21727168A> C null F V 381 381 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1439154694 19p12 19 21727163G> C null Y * 382 382 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs761506921 19p12 19 21727165A> G null Y H 382 382 missense 0.742 possibly damaging 0.11 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs761506921 19p12 19 21727165A> T null Y N 382 382 missense 0.019 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs375931323 19p12 19 21727162G> A null R * 383 383 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373182960 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p12 19 21727161C> T null R Q 383 383 missense 0.365 benign 0.86 tolerated 1 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1264427941 19p12 19 21727159A> G null F L 384 384 missense 0.302 benign 0.34 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1483217249 19p12 19 21727158A> G null F S 384 384 missense 0.023 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs369456587 19p12 19 21727156A> T null S T 385 385 missense 0.547 possibly damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs775015566 19p12 19 21727153A> C null Y D 386 386 missense 0.452 possibly damaging 0.12 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1041071755 19p12 19 21727150G> T null L I 387 387 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1041071755 19p12 19 21727150G> C null L V 387 387 missense 0.997 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7246400 pubmed:15489334,pubmed:1740334 19p12 19 21727146G> A null T I 388 388 0.4908 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs942897958 19p12 19 21727147T> G null T P 388 388 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs191344204 19p12 19 21727140T> C null H R 390 390 0.001997 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1370075433 19p12 19 21727138T> A null K * 391 391 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs778148854 19p12 19 21727136C> A null K N 391 391 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed rs747312272 19p12 19 21727137T> C null K R 391 391 missense 0.997 probably damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1568286384 19p12 19 21727134G> A null T I 392 392 missense 0.0 benign 0.72 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1259507840 19p12 19 21727135T> A null T S 392 392 missense 0.04 benign 0.43 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1354924046 19p12 19 21727125G> A null T I 395 395 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1457971985 19p12 19 21727122C> G null G A 396 396 missense 0.998 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,TOPMed,gnomAD rs752896927 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727118C> A null E D 397 397 missense 0.97 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,gnomAD rs369863367 19p12 19 21727120C> T null E K 397 397 missense 0.995 probably damaging 0.07 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs779142915 19p12 19 21727116T> C null K R 398 398 missense 0.993 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,TOPMed,gnomAD rs141910157 19p12 19 21727114A> G null F L 399 399 0.002196 missense 0.372 benign 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,TOPMed,gnomAD rs532890971 19p12 19 21727113A> G null F S 399 399 2.0E-4 missense 0.479 possibly damaging 0.08 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1568286277 19p12 19 21727097T> A null E D 404 404 missense 0.97 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,gnomAD rs147769781 19p12 19 21727094G> T null C * 405 405 5.99E-4 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,gnomAD rs751337504 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727092C> T null G D 406 406 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs761719206 19p12 19 21727093C> G null G R 406 406 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs761719206 19p12 19 21727093C> T null G S 406 406 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs199672005 19p12 19 21727086C> G null G A 408 408 missense 0.054 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs199672005 19p12 19 21727086C> T null G D 408 408 missense 0.929 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,NCI-TCGA,TOPMed rs546924864 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727080T> A null N I 410 410 2.0E-4 missense 0.898 possibly damaging 0.22 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs762516981 19p12 19 21727076C> T null W * 411 411 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs762516981 19p12 19 21727076C> A null W C 411 411 missense 0.849 possibly damaging 0.22 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1333486337 19p12 19 21727078A> G null W R 411 411 missense 0.009 benign 0.74 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs775066535 19p12 19 21727074G> A null S F 412 412 missense 0.02 benign 0.26 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs759044950 19p12 19 21727071G> A null S L 413 413 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs773453580 19p12 19 21727068G> T null A D 414 414 missense 0.105 benign 0.27 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs747509710 19p12 19 21727069C> G null A P 414 414 missense 0.401 benign 0.12 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs747509710 19p12 19 21727069C> T null A T 414 414 missense 0.001 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1555702218 19p12 19 21727062G> A null T I 416 416 missense 0.577 possibly damaging 0.09 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1555702218 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21727062G> T null T N 416 416 missense 0.216 benign 0.17 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1237591958 19p12 19 21727058T> G null K N 417 417 missense 0.023 benign 0.33 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs748435196 19p12 19 21727059T> G null K T 417 417 missense 0.014 benign 0.79 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs755146922 19p12 19 21727055A> C null H Q 418 418 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs779269607 19p12 19 21727056T> C null H R 418 418 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs561185850 19p12 19 21727053T> C null K R 419 419 5.99E-4 missense 0.05 benign 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs543112236 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p12 19 21727050C> A null R I 420 420 2.0E-4 missense 0.138 benign 0.43 tolerated 1 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs543112236 19p12 19 21727050C> G null R T 420 420 2.0E-4 missense 0.567 possibly damaging 0.12 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,gnomAD rs530787118 19p12 19 21727047A> C null I S 421 421 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1380119518 19p12 19 21727042T> C null T A 423 423 missense 0.147 benign 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs763809624 19p12 19 21727041G> C null T S 423 423 missense 0.196 benign 0.12 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1289712933 19p12 19 21727031T> G null K N 426 426 missense 0.045 benign 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1568285976 19p12 19 21727030G> T null P T 427 427 missense 0.816 possibly damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185406570 19p12 19 21727026T> C null Y C 428 428 7.99E-4 missense 0.999 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs759138843 19p12 19 21727021A> G null C R 430 430 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1420219415 19p12 19 21727020C> T null C Y 430 430 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1382015763 19p12 19 21727017T> G null E A 431 431 missense 0.442 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs368185825 19p12 19 21727015C> G null E Q 432 432 missense 0.006 benign 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs765848309 19p12 19 21727011C> G null C S 433 433 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1466051835 19p12 19 21727008C> A null G V 434 434 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs374252867 19p12 19 21727005T> A null K I 435 435 missense 0.733 possibly damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs374252867 19p12 19 21727005T> C null K R 435 435 missense 0.009 benign 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs773752537 19p12 19 21727002G> C null A G 436 436 missense 0.694 possibly damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs773752537 19p12 19 21727002G> A null A V 436 436 missense 0.87 possibly damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs879149939 19p12 19 21726995A> T null N K 438 438 missense 0.02 benign 0.44 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs772382628 19p12 19 21726996T> C null N S 438 438 missense 0.311 benign 0.47 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1489553058 19p12 19 21726992C> G null E D 439 439 missense 0.221 benign 0.2 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs748490199 19p12 19 21726994C> T null E K 439 439 missense 0.106 benign 0.34 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs748490199 19p12 19 21726994C> G null E Q 439 439 missense 0.046 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs78722705 19p12 19 21726990G> A null S F 440 440 missense 0.365 benign 0.29 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs78722705 19p12 19 21726990G> T null S Y 440 440 missense 0.02 benign 0.19 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed rs774761289 19p12 19 21726987G> C null S * 441 441 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed rs774761289 19p12 19 21726987G> A null S L 441 441 missense 0.487 possibly damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs769025706 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 19p12 19 21726984T> C null N S 442 442 missense 0.029 benign 0.55 tolerated 1 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs769025706 19p12 19 21726984T> G null N T 442 442 missense 0.103 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1432703310 19p12 19 21726985T> A null N Y 442 442 missense 0.009 benign 0.63 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1322645976 19p12 19 21726982G> A null L F 443 443 missense 0.975 probably damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,gnomAD rs544889931 19p12 19 21726978G> C null T S 444 444 2.0E-4 missense 0.272 benign 0.17 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs756161010 19p12 19 21726975G> A null T I 445 445 missense 0.003 benign 0.28 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1287001404 19p12 19 21726969T> C null K R 447 447 missense 0.034 benign 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs746977407 19p12 19 21726965C> T null M I 448 448 missense 0.001 benign 0.52 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1436817786 19p12 19 21726961G> C null H D 450 450 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1350182216 19p12 19 21726957G> C null T S 451 451 missense 0.412 benign 0.13 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed rs758169696 19p12 19 21726955C> G null G R 452 452 missense 1.0 probably damaging 0.07 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed rs758169696 19p12 19 21726955C> T null G R 452 452 missense 1.0 probably damaging 0.07 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1288844424 19p12 19 21726951T> C null E G 453 453 missense 0.999 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ESP,ExAC,TOPMed,gnomAD rs202172761 19p12 19 21726949T> C null K E 454 454 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1479115747 19p12 19 21726945G> A null P L 455 455 missense 0.999 probably damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs764975995 19p12 19 21726946G> A null P S 455 455 missense 0.998 probably damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs754628199 19p12 19 21726942T> C null Y C 456 456 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1205016674 19p12 19 21726938T> G null K N 457 457 missense 0.563 possibly damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs753431110 19p12 19 21726939T> C null K R 457 457 missense 0.005 benign 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1489019476 19p12 19 21726936C> T null C Y 458 458 missense 1.0 probably damaging 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs533592689 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21726932G> T null D E 459 459 missense 0.0 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs72479598 19p12 19 21726931C> A null E * 460 460 0.03434 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs72479598 19p12 19 21726931C> T null E K 460 460 0.03434 missense 0.995 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs768043951 19p12 19 21726918G> C null A G 464 464 missense 0.998 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202235978 19p12 19 21726914A> T null F L 465 465 9.98E-4 missense 0.985 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1338475644 19p12 19 21726915A> G null F S 465 465 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,gnomAD rs573780535 19p12 19 21726913T> A null N Y 466 466 2.0E-4 missense 0.961 probably damaging 0.18 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1459580740 19p12 19 21726909C> T null R Q 467 467 missense 0.007 benign 0.54 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs748465493 19p12 19 21726910G> A null R W 467 467 missense 0.805 possibly damaging 0.32 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs763282204 19p12 19 21726907A> C null S A 468 468 missense 0.069 benign 0.1 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs865998785 19p12 19 21726903G> T null S * 469 469 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs865998785 19p12 19 21726903G> A null S L 469 469 missense 0.635 possibly damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1170884331 19p12 19 21726901G> T null Q K 470 470 missense 0.001 benign 0.63 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs745932018 19p12 19 21726892C> T null A T 473 473 missense 0.013 benign 0.84 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs777623781 19p12 19 21726888T> A null H L 474 474 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs772025591 19p12 19 21726887A> C null H Q 474 474 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs777623781 19p12 19 21726888T> C null H R 474 474 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs889806116 19p12 19 21726886T> A null K * 475 475 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs889806116 19p12 19 21726886T> G null K Q 475 475 missense 0.999 probably damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs778689509 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21726881C> T null M I 476 476 missense 0.0 benign 0.24 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs778689509 19p12 19 21726881C> A null M I 476 476 missense 0.0 benign 0.24 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1381740947 19p12 19 21726880T> C null I V 477 477 missense 0.148 benign 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142570558 19p12 19 21726868C> T null E K 481 481 0.003594 missense 0.561 possibly damaging 0.05 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs200834313 19p12 19 21726862G> A null P S 483 483 missense 0.998 probably damaging 0.05 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs779725111 19p12 19 21726857G> C null Y * 484 484 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1312668572 19p12 19 21726858T> C null Y C 484 484 missense 0.01 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs996191618 19p12 19 21726855T> C null K R 485 485 missense 0.993 probably damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs755626997 19p12 19 21726853A> C null C G 486 486 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs200163699 19p12 19 21726852C> T null C Y 486 486 missense 1.0 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1331615500 19p12 19 21726848C> G null E D 487 487 missense 0.034 benign 0.05 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1393779330 19p12 19 21726840C> T null G D 490 490 missense 1.0 probably damaging 0.04 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs766899150 19p12 19 21726826G> A null R * 495 495 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs762415292 19p12 19 21726825C> A null R L 495 495 missense 0.091 benign 0.68 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,NCI-TCGA,TOPMed,gnomAD rs762415292 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21726825C> T null R Q 495 495 missense 0.001 benign 0.93 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs752055635 19p12 19 21726817T> C null T A 498 498 missense 0.012 benign 0.35 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1182041910 19p12 19 21726816G> A null T I 498 498 missense 0.017 benign 0.3 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs752055635 19p12 19 21726817T> G null T P 498 498 missense 0.074 benign 0.11 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs764615867 19p12 19 21726814G> T null L I 499 499 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs1568285316 19p12 19 21726810G> C null T S 500 500 missense 0.02 benign 0.16 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1456604890 19p12 19 21726807T> G null K T 501 501 missense 0.017 benign 0.48 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1249954658 19p12 19 21726804T> A null H L 502 502 missense 0.839 possibly damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1249954658 19p12 19 21726804T> G null H P 502 502 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1249954658 19p12 19 21726804T> C null H R 502 502 missense 0.76 possibly damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs763409906 19p12 19 21726802T> C null K E 503 503 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1423659831 19p12 19 21726801T> C null K R 503 503 missense 0.997 probably damaging 0.05 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1257718808 19p12 19 21726798A> T null I K 504 504 missense 0.075 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs775617898 19p12 19 21726797T> C null I M 504 504 missense 0.019 benign 0.11 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1346900594 19p12 19 21726795G> A null T I 505 505 missense 0.001 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs770037782 19p12 19 21726793G> C null H D 506 506 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1241923801 19p12 19 21726792T> G null H P 506 506 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1241923801 19p12 19 21726792T> C null H R 506 506 missense 0.996 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1307271911 19p12 19 21726790T> C null T A 507 507 missense 0.003 benign 0.08 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs759635183 19p12 19 21726784C> T null E K 509 509 missense 0.02 benign 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs776774579 19p12 19 21726773G> T null Y * 512 512 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1327712396 19p12 19 21726774T> C null Y C 512 512 missense 0.999 probably damaging 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs770936151 19p12 19 21726772T> G null K Q 513 513 missense 0.087 benign 0.05 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1311610664 19p12 19 21726771T> G null K T 513 513 missense 0.012 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1434624967 19p12 19 21726767C> A null W C 514 514 missense 0.001 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs748137733 19p12 19 21726766C> T null E K 515 515 missense 0.009 benign 0.16 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1188457125 19p12 19 21726749G> T null D E 520 520 missense 0.025 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,NCI-TCGA,gnomAD rs569652116 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21726751C> T null D N 520 520 2.0E-4 missense 0.04 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1406673495 19p12 19 21726748A> T null F I 521 521 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs779662600 19p12 19 21726742G> C null Q E 523 523 missense 0.0 benign 0.13 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1485287099 19p12 19 21726738G> A null S F 524 524 missense 0.6 possibly damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC rs755824682 19p12 19 21726735A> C null L R 525 525 missense 0.197 benign 0.12 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,gnomAD rs539336606 19p12 19 21726727T> C null I V 528 528 2.0E-4 missense 0.007 benign 0.25 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1400315878 19p12 19 21726715T> C null I M 530 530 missense 0.254 benign 0.14 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs180941718 19p12 19 21726716A> G null I T 530 530 2.0E-4 missense 0.048 benign 0.55 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1414753137 19p12 19 21726713G> A null T I 531 531 missense 0.0 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs764668993 19p12 19 21726711G> C null H D 532 532 missense 0.437 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs112972661 19p12 19 21726710T> C null H R 532 532 missense 0.003 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs758886174 19p12 19 21726707G> A null T I 533 533 missense 0.464 possibly damaging 0.06 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs758886174 19p12 19 21726707G> C null T S 533 533 missense 0.014 benign 0.14 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs765450154 19p12 19 21726699T> C null K E 536 536 missense 0.063 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs759814295 19p12 19 21726695G> A null P L 537 537 missense 0.003 benign 0.12 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,TOPMed,gnomAD rs534859267 19p12 19 21726691G> C null Y * 538 538 2.0E-4 missense 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs766509092 19p12 19 21726692T> C null Y C 538 538 missense 0.013 benign 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1263857250 19p12 19 21726690T> C null K E 539 539 missense 0.031 benign 0.03 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes rs567871298 19p12 19 21726689T> G null K T 539 539 2.0E-4 missense 0.094 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs774320913 19p12 19 21726681T> C null K E 542 542 missense 0.0 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs937010818 19p12 19 21726670T> A null K N 545 545 missense 0.055 benign 0.05 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,ExAC,gnomAD rs200386862 19p12 19 21726662T> C null Y C 548 548 2.0E-4 missense 0.012 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,TOPMed,gnomAD rs755503200 19p12 19 21726656G> A null S F 550 550 missense 0.001 benign 0.28 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs769419741 19p12 19 21726653G> A null S L 551 551 missense 0.009 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1357985847 19p12 19 21726654A> T null S T 551 551 missense 0.215 benign 0.02 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 ExAC,gnomAD rs745592612 19p12 19 21726650G> A null T I 552 552 missense 0.0 benign 0.26 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 gnomAD rs1340551423 19p12 19 21726647A> G null L P 553 553 missense 0.003 benign 0.0 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1381725708 19p12 19 21726640T> A null K N 555 555 missense 0.098 benign 0.16 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs978699013 19p12 19 21726638T> C null H R 556 556 missense 0.069 benign 0.01 deleterious 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1407344273 19p12 19 21726633T> C null K R 557 557 missense 0.078 benign 0.08 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,TOPMed,gnomAD rs112138139 19p12 19 21726630T> C null N S 558 558 0.002596 missense 0.127 benign 0.68 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 Ensembl rs879243721 19p12 19 21726627G> C null S * 559 559 stop gained 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs965430810 19p12 19 21726625A> G null Y H 560 560 missense 0.0 benign 1.0 tolerated 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1019690588 19p12 19 21726613G> A null L F 564 564 missense 0.03 benign 0.09 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed rs1007413525 19p12 19 21726612A> G null L P 564 564 missense 0.024 benign 0.13 tolerated - low confidence 0 A0A075B7G6 ZNF100 Zinc finger protein 100 TOPMed,gnomAD rs1181813493 19p12 19 21726602_21726603de l null * K 567 567 stop lost 0 A0A075B7G6 ZNF100 Zinc finger protein 100 1000Genomes,TOPMed,gnomAD rs551399614 19p12 19 21726601A> T null * R 567 567 3.99E-4 stop lost 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs772248869 11p15.4 11 6411340A> G null V A 3 3 missense 0.099 benign 0.7 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs146466487 11p15.4 11 6411341C> T null V I 3 3 9.98E-4 missense 0.034 benign 0.03 deleterious - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs146466487 11p15.4 11 6411341C> G null V L 3 3 9.98E-4 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1432906621 11p15.4 11 6411325C> T null S N 8 8 missense 0.069 benign 0.24 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs771018033 11p15.4 11 6411322T> C null Q R 9 9 missense 0.047 benign 0.09 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs749187223 11p15.4 11 6411319G> T null S * 10 10 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs749187223 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6411319G> A null S L 10 10 missense 0.013 benign 0.1 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1408539322 11p15.4 11 6411317C> A null A S 11 11 missense 0.264 benign 0.51 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs898811654 11p15.4 11 6411313A> G null I T 12 12 missense 0.017 benign 0.35 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs776166798 11p15.4 11 6411314T> C null I V 12 12 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1303250687 11p15.4 11 6411304T> C null N S 15 15 missense 0.332 benign 0.13 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1444946776 11p15.4 11 6411299G> C null H D 17 17 missense 0.023 benign 0.72 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1293731844 11p15.4 11 6411298T> C null H R 17 17 missense 0.0 benign 0.83 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs747954469 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6411296C> T null G R 18 18 missense 0.421 benign 0.03 deleterious - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1222602655 11p15.4 11 6411290G> C null P A 20 20 missense 0.264 benign 0.08 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1222602655 11p15.4 11 6411290G> T null P T 20 20 missense 0.447 possibly damaging 0.0 deleterious - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367708086 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6411287C> T null A T 21 21 missense 0.059 benign 0.21 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs779663381 11p15.4 11 6411280C> T null S N 23 23 missense 0.206 benign 0.03 deleterious - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1198562200 11p15.4 11 6411274G> A null P L 25 25 missense 0.018 benign 0.05 deleterious - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1429964677 11p15.4 11 6411275G> A null P S 25 25 missense 0.003 benign 0.68 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1429964677 11p15.4 11 6411275G> T null P T 25 25 missense 0.018 benign 0.92 tolerated - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs374705416 11p15.4 11 6411260C> T null A T 30 30 missense 0.0 benign 0.15 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1207136690 11p15.4 11 6411254G> T null H N 32 32 missense 0.264 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1486280095 11p15.4 11 6411253T> G null H P 32 32 missense 0.72 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1207136690 11p15.4 11 6411254G> A null H Y 32 32 missense 0.528 possibly damaging 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1387549600 11p15.4 11 6411249G> C null N K 33 33 missense 0.662 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1456655321 11p15.4 11 6411248G> T null Q K 34 34 missense 0.264 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs895734237 11p15.4 11 6411247T> C null Q R 34 34 missense 0.447 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1340466010 11p15.4 11 6411239T> G null N H 37 37 missense 0.55 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1223434485 11p15.4 11 6411236C> T null A T 38 38 missense 0.014 benign 0.14 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1297022339 11p15.4 11 6411220G> A null T I 43 43 missense 0.007 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1382467572 11p15.4 11 6411217G> C null A G 44 44 missense 0.384 benign 0.12 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1318670507 11p15.4 11 6411218C> T null A T 44 44 missense 0.031 benign 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs200152007 11p15.4 11 6411215C> A null V L 45 45 missense 0.005 benign 0.17 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs200152007 11p15.4 11 6411215C> G null V L 45 45 missense 0.005 benign 0.17 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs200152007 11p15.4 11 6411215C> T null V M 45 45 missense 0.143 benign 0.11 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1453358189 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6411205T> G null K T 48 48 missense 0.514 possibly damaging 0.17 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1317071303 11p15.4 11 6411202T> C null D G 49 49 missense 0.0 benign 0.19 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141737231 11p15.4 11 6411197G> A null R C 51 51 0.009784 missense 0.898 possibly damaging 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,gnomAD rs766381978 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11p15.4 11 6411196C> T null R H 51 51 missense 0.018 benign 0.14 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs766381978 11p15.4 11 6411196C> A null R L 51 51 missense 0.503 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs763037052 11p15.4 11 6411193C> T null S N 52 52 missense 0.191 benign 0.15 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs763037052 11p15.4 11 6411193C> G null S T 52 52 missense 0.012 benign 0.26 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369739068 cosmic curated [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23525077,cosmic_study:464 11p15.4 11 6411191C> T null A T 53 53 missense 0.006 benign 0.0 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1195363633 11p15.4 11 6411186C> T null M I 54 54 missense 0.101 benign 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1161565126 11p15.4 11 6411187A> C null M R 54 54 missense 0.192 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs747944904 11p15.4 11 6411188T> C null M V 54 54 missense 0.033 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1207020085 11p15.4 11 6411178C> A null G V 57 57 missense 0.412 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs11600577 11p15.4 11 6411169G> T null P H 60 60 missense 0.339 benign 0.14 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs11600577 11p15.4 11 6411169G> A null P L 60 60 missense 0.0 benign 0.1 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1462986905 11p15.4 11 6411164G> C null P A 62 62 missense 0.009 benign 0.32 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes rs200718102 11p15.4 11 6411163G> C null P R 62 62 missense 0.045 benign 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs768596436 11p15.4 11 6411161C> T null G S 63 63 missense 0.354 benign 0.13 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs779863777 11p15.4 11 6411151T> C null N S 66 66 missense 0.037 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,gnomAD rs201513100 11p15.4 11 6411148G> T null A D 67 67 2.0E-4 missense 0.636 possibly damaging 0.1 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,gnomAD rs201513100 11p15.4 11 6411148G> A null A V 67 67 2.0E-4 missense 0.157 benign 0.17 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs778312139 11p15.4 11 6411130C> G null G A 73 73 missense 0.758 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1454237704 11p15.4 11 6411122G> C null Q E 76 76 missense 0.899 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1412722782 11p15.4 11 6411115C> T null R Q 78 78 missense 0.733 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs974725600 11p15.4 11 6411116G> A null R W 78 78 missense 0.924 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1168401662 11p15.4 11 6411112C> T null R Q 79 79 missense 0.216 benign 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs753266566 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6411113G> A null R W 79 79 missense 0.853 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1167141720 11p15.4 11 6411110C> A null A S 80 80 missense 0.487 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs755338164 11p15.4 11 6411107C> T null A T 81 81 missense 0.992 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs1564946063 11p15.4 11 6411104T> C null T A 82 82 missense 0.051 benign 0.3 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs912124781 11p15.4 11 6411103G> A null T M 82 82 missense 0.725 possibly damaging 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs751725634 11p15.4 11 6411101C> T null A T 83 83 missense 0.012 benign 0.17 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1338637247 11p15.4 11 6411098G> T null H N 84 84 missense 0.135 benign 0.15 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs766650127 11p15.4 11 6411095G> A null R C 85 85 missense 0.183 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,NCI-TCGA,gnomAD rs543265186 NCI-TCGA Cosmic [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 11p15.4 11 6411094C> T null R H 85 85 2.0E-4 missense 0.051 benign 0.01 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1441029396 11p15.4 11 6411088T> G null Q P 87 87 missense 0.969 probably damaging 0.25 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1196883346 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6411083G> A null R C 89 89 missense 0.635 possibly damaging 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs769075968 11p15.4 11 6411082C> T null R H 89 89 missense 0.005 benign 0.15 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1271792138 11p15.4 11 6411077C> T null V M 91 91 missense 0.003 benign 0.28 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs138898127 11p15.4 11 6411061G> T null A E 96 96 missense 0.091 benign 0.99 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs138898127 cosmic curated [Cosmic]: prostate cosmic_study:435 11p15.4 11 6411061G> A null A V 96 96 missense 0.0 benign 0.32 tolerated 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1266208230 11p15.4 11 6411055T> C null E G 98 98 missense 0.145 benign 0.31 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs746857255 11p15.4 11 6411050T> C null S G 100 100 missense 0.0 benign 0.6 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1390735361 11p15.4 11 6411049C> T null S N 100 100 missense 0.076 benign 0.5 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP rs150635050 11p15.4 11 6411046T> C null Q R 101 101 missense 0.005 benign 0.15 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1370041048 11p15.4 11 6411041G> A null P S 103 103 missense 0.0 benign 0.21 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,gnomAD rs141877116 11p15.4 11 6411031G> A null A V 106 106 missense 0.003 benign 0.29 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1482586372 11p15.4 11 6411028G> A null P L 107 107 missense 0.059 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs745357819 11p15.4 11 6411029G> A null P S 107 107 missense 0.039 benign 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs745357819 11p15.4 11 6411029G> T null P T 107 107 missense 0.006 benign 0.1 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs974186671 11p15.4 11 6411026A> T null L M 108 108 missense 0.447 possibly damaging 0.12 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1439913647 11p15.4 11 6411022C> T null G D 109 109 missense 0.145 benign 0.6 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1439913647 11p15.4 11 6411022C> A null G V 109 109 missense 0.193 benign 0.28 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs748534765 11p15.4 11 6411016T> C null K R 111 111 missense 0.206 benign 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed rs781675749 11p15.4 11 6411014C> T null G S 112 112 missense 0.698 possibly damaging 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1480817570 11p15.4 11 6411007A> G null I T 114 114 missense 0.001 benign 0.11 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1234950035 11p15.4 11 6411005G> A null H Y 115 115 missense 0.346 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1249028771 11p15.4 11 6411001A> G null L P 116 116 missense 0.55 possibly damaging 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs751991191 11p15.4 11 6411002G> C null L V 116 116 missense 0.191 benign 0.2 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148090907 11p15.4 11 6410999A> T null Y N 117 117 2.0E-4 missense 0.084 benign 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1168423944 11p15.4 11 6410993C> T null E K 119 119 missense 0.157 benign 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs983737759 11p15.4 11 6410987C> T null E K 121 121 missense 0.956 probably damaging 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1290625702 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11p15.4 11 6410980G> C null S * 123 123 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1290625702 11p15.4 11 6410980G> T null S * 123 123 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1290625702 11p15.4 11 6410980G> A null S L 123 123 missense 0.95 probably damaging 0.05 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,gnomAD rs554484499 11p15.4 11 6410975G> A null H Y 125 125 2.0E-4 missense 0.029 benign 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1352641520 11p15.4 11 6410972T> C null N D 126 126 missense 0.431 benign 0.36 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2682094 11p15.4 11 6410970G> C null N K 126 126 0.01238 missense 0.585 possibly damaging 0.13 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs765193213 11p15.4 11 6410969C> T null A T 127 127 missense 0.001 benign 0.56 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs753812229 11p15.4 11 6410962T> C null N S 129 129 missense 0.935 probably damaging 0.19 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs753812229 11p15.4 11 6410962T> G null N T 129 129 missense 0.956 probably damaging 0.13 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1233241123 11p15.4 11 6410960G> C null R G 130 130 missense 0.091 benign 0.31 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs561124514 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11p15.4 11 6410959C> T null R Q 130 130 missense 0.14 benign 0.51 tolerated 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143316838 11p15.4 11 6410956C> T null G D 131 131 5.99E-4 missense 0.425 benign 0.66 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,gnomAD rs572432118 11p15.4 11 6410957C> T null G S 131 131 3.99E-4 missense 0.429 benign 0.76 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139345068 NCI-TCGA Cosmic [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23292937,cosmic_study:482 11p15.4 11 6410950C> T null R Q 133 133 missense 0.0 benign 0.58 tolerated 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs774054221 11p15.4 11 6410947C> G null G A 134 134 missense 0.506 possibly damaging 0.25 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs774054221 11p15.4 11 6410947C> T null G E 134 134 missense 0.078 benign 0.39 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs368467754 11p15.4 11 6410944G> C null P R 135 135 missense 0.01 benign 0.23 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1410457097 11p15.4 11 6410929C> T null S N 140 140 missense 0.0 benign 0.44 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1223176232 11p15.4 11 6410923T> G null Q P 142 142 missense 0.506 possibly damaging 0.25 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1223176232 11p15.4 11 6410923T> C null Q R 142 142 missense 0.403 benign 0.51 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs769195982 11p15.4 11 6410919C> G null E D 143 143 missense 0.0 benign 0.37 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375316100 11p15.4 11 6410917T> G null Q P 144 144 2.0E-4 missense 0.0 benign 0.29 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs758823393 11p15.4 11 6410899T> C null E G 150 150 missense 0.05 benign 0.15 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs780348247 11p15.4 11 6410900C> T null E K 150 150 missense 0.003 benign 0.43 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs750546947 11p15.4 11 6410890G> A null A V 153 153 missense 0.939 probably damaging 0.27 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1011436577 11p15.4 11 6410884C> T null G E 155 155 missense 0.896 possibly damaging 0.79 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1326780556 11p15.4 11 6410885C> T null G R 155 155 missense 0.925 probably damaging 0.27 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs760636372 11p15.4 11 6410876C> T null E K 158 158 missense 0.446 possibly damaging 0.3 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs752709540 11p15.4 11 6410870C> G null E Q 160 160 missense 0.015 benign 0.35 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs761753778 11p15.4 11 6410866T> A null E V 161 161 missense 0.0 benign 0.27 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,TOPMed,gnomAD rs145320037 cosmic curated [Cosmic]: breast, [Cosmic]: prostate pubmed:22610119,cosmic_study:392,cosmic_study:414 11p15.4 11 6410862C> A null E D 162 162 missense 0.006 benign 0.52 tolerated 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs943319518 cosmic curated [Cosmic]: breast pubmed:17932254 11p15.4 11 6410864C> T null E K 162 162 missense 0.019 benign 0.62 tolerated 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,TOPMed rs150119080 11p15.4 11 6410859A> C null D E 163 163 9.98E-4 missense 0.0 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs773864533 11p15.4 11 6410860T> C null D G 163 163 missense 0.0 benign 0.31 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370763825 11p15.4 11 6410861C> T null D N 163 163 2.0E-4 missense 0.003 benign 0.49 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs773864533 11p15.4 11 6410860T> A null D V 163 163 missense 0.01 benign 0.24 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs762422380 11p15.4 11 6410854T> G null D A 165 165 missense 0.007 benign 0.72 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,gnomAD rs567955106 11p15.4 11 6410855C> A null D Y 165 165 2.0E-4 missense 0.121 benign 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs769316677 11p15.4 11 6410852C> G null D H 166 166 missense 0.009 benign 0.11 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs769316677 11p15.4 11 6410852C> A null D Y 166 166 missense 0.019 benign 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1188906824 11p15.4 11 6410849C> T null E K 167 167 missense 0.001 benign 0.91 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1476202267 11p15.4 11 6410845T> G null E A 168 168 missense 0.014 benign 0.71 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1242387872 11p15.4 11 6410844C> A null E D 168 168 missense 0.003 benign 0.61 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1476202267 11p15.4 11 6410845T> C null E G 168 168 missense 0.132 benign 0.34 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs747475498 11p15.4 11 6410842T> C null E G 169 169 missense 0.354 benign 0.23 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1264710924 11p15.4 11 6410838C> G null E D 170 170 missense 0.006 benign 0.34 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs1564945585 11p15.4 11 6410832G> C null D E 172 172 missense 0.031 benign 0.89 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs772269224 11p15.4 11 6410829T> G null L F 173 173 missense 0.55 possibly damaging 0.42 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1322683798 11p15.4 11 6410827G> A null S F 174 174 missense 0.795 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1217597649 11p15.4 11 6410822G> C null P A 176 176 missense 0.007 benign 0.05 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs778970120 11p15.4 11 6410821G> A null P L 176 176 missense 0.101 benign 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1363479157 11p15.4 11 6410818G> A null P L 177 177 missense 0.001 benign 0.11 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs754134576 11p15.4 11 6410819G> A null P S 177 177 missense 0.001 benign 0.37 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1385779684 11p15.4 11 6410816C> T null G R 178 178 missense 0.956 probably damaging 0.43 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs777956176 11p15.4 11 6410813G> C null L V 179 179 missense 0.014 benign 0.28 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs752621628 11p15.4 11 6410810G> C null P A 180 180 missense 0.0 benign 0.18 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs752621628 11p15.4 11 6410810G> A null P S 180 180 missense 0.012 benign 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs549723601 11p15.4 11 6410803G> A null P L 182 182 5.99E-4 missense 0.286 benign 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1244783034 11p15.4 11 6410792C> T null V M 186 186 missense 0.102 benign 0.13 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs751414701 11p15.4 11 6410789C> T null E K 187 187 missense 0.012 benign 0.53 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs765930100 11p15.4 11 6410785G> T null A D 188 188 missense 0.007 benign 0.62 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs765930100 11p15.4 11 6410785G> A null A V 188 188 missense 0.0 benign 0.43 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140757237 11p15.4 11 6410779G> A null P L 190 190 0.001398 missense 0.011 benign 0.11 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs762544684 11p15.4 11 6410780G> A null P S 190 190 missense 0.0 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs764662387 11p15.4 11 6410777T> C null R G 191 191 missense 0.0 benign 0.25 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs991201190 11p15.4 11 6410773G> A null P L 192 192 missense 0.057 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs772671906 11p15.4 11 6410767G> T null A D 194 194 missense 0.044 benign 0.35 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs772671906 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6410767G> A null A V 194 194 missense 0.0 benign 0.2 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,gnomAD rs559315536 11p15.4 11 6410764A> C null L R 195 195 2.0E-4 missense 0.037 benign 0.49 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1446244825 11p15.4 11 6410755C> G null G A 198 198 missense 0.36 benign 0.75 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1446244825 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11p15.4 11 6410755C> T null G D 198 198 missense 0.841 possibly damaging 0.62 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC rs749454075 11p15.4 11 6410752G> T null P H 199 199 missense 0.019 benign 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1419353337 11p15.4 11 6410749C> T null R Q 200 200 missense 0.53 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs778153421 11p15.4 11 6410750G> A null R W 200 200 missense 0.924 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1048431765 11p15.4 11 6410740C> T null S N 203 203 missense 0.191 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,gnomAD rs532235702 11p15.4 11 6410737T> C null K R 204 204 2.0E-4 missense 0.018 benign 0.37 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs780962299 11p15.4 11 6410735T> A null S C 205 205 missense 0.926 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs780962299 11p15.4 11 6410735T> C null S G 205 205 missense 0.281 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,TOPMed rs377250975 11p15.4 11 6410731G> A null A V 206 206 missense 0.607 possibly damaging 0.14 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1386761883 11p15.4 11 6410727G> T null S R 207 207 missense 0.648 possibly damaging 0.07 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1423092651 11p15.4 11 6410713A> C null M R 212 212 missense 0.135 benign 0.05 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1178890393 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6410710C> T null R Q 213 213 missense 0.276 benign 0.95 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs766162217 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6410711G> A null R W 213 213 missense 0.852 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1278851484 11p15.4 11 6410701G> A null A V 216 216 missense 0.117 benign 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs998954227 11p15.4 11 6410694A> T null S R 218 218 missense 0.767 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1480878628 11p15.4 11 6410692T> C null D G 219 219 missense 0.877 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs758197327 11p15.4 11 6410689T> A null E V 220 220 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1482101968 11p15.4 11 6410674G> C null A G 225 225 missense 0.121 benign 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs764930193 11p15.4 11 6410665G> C null S C 228 228 missense 0.031 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs764930193 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6410665G> A null S F 228 228 missense 0.855 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs761279160 11p15.4 11 6410655G> C null S R 231 231 missense 0.226 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs763531516 11p15.4 11 6410647T> C null Y C 234 234 missense 0.57 possibly damaging 0.18 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1307938577 11p15.4 11 6410641G> A null S F 236 236 missense 0.758 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs899676987 11p15.4 11 6410634C> A null E D 238 238 missense 0.001 benign 0.88 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1288987921 11p15.4 11 6403822T> A null D V 241 241 missense 0.795 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs768829390 11p15.4 11 6403813C> G null W S 244 244 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1269453709 11p15.4 11 6403804T> C null N S 247 247 missense 0.021 benign 0.5 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1196939867 11p15.4 11 6403796C> G null E Q 250 250 missense 0.989 probably damaging 0.79 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs139454989 11p15.4 11 6403792G> A null T M 251 251 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs749102212 11p15.4 11 6403790C> A null D Y 252 252 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139147263 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6403784C> T null D N 254 254 2.0E-4 missense 0.995 probably damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1370812955 cosmic curated [Cosmic]: large_intestine cosmic_study:376 11p15.4 11 6403777G> A null P L 256 256 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs925284233 11p15.4 11 6403775C> A null A S 257 257 missense 0.012 benign 0.27 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs925284233 11p15.4 11 6403775C> T null A T 257 257 missense 0.253 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1196303893 11p15.4 11 6403767C> T null W * 259 259 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1448579464 11p15.4 11 6403760C> T null V I 262 262 missense 0.992 probably damaging 0.71 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1268464549 11p15.4 11 6403757G> A null Q * 263 263 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs780810453 11p15.4 11 6403750G> A null T I 265 265 missense 0.998 probably damaging 0.49 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs754540915 11p15.4 11 6403742T> C null T A 268 268 missense 0.994 probably damaging 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1434503956 11p15.4 11 6403714G> A null T I 277 277 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,TOPMed,gnomAD rs371731039 11p15.4 11 6403700G> A null P S 282 282 missense 0.999 probably damaging 0.1 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200437076 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6403694C> T null G S 284 284 2.0E-4 missense 0.068 benign 0.49 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs367894248 11p15.4 11 6403691G> C null R G 285 285 missense 0.323 benign 0.53 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs767523177 11p15.4 11 6403690C> T null R Q 285 285 missense 0.46 possibly damaging 0.63 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367894248 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6403691G> A null R W 285 285 missense 0.897 possibly damaging 0.19 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1187752090 11p15.4 11 6403687G> T null A D 286 286 missense 0.666 possibly damaging 0.45 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1248446463 11p15.4 11 6403688C> A null A S 286 286 missense 0.079 benign 0.67 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1248446463 11p15.4 11 6403688C> T null A T 286 286 missense 0.332 benign 0.38 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1423316492 11p15.4 11 6403685A> G null S P 287 287 missense 0.0 benign 0.31 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1020056519 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6403681G> A null P L 288 288 missense 0.117 benign 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,gnomAD rs770812116 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11p15.4 11 6403676G> A null Q * 290 290 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144001709 11p15.4 11 6403673C> G null G R 291 291 2.0E-4 missense 0.724 possibly damaging 0.19 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1298584155 11p15.4 11 6403666C> T null S N 293 293 missense 0.452 possibly damaging 0.11 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs769662843 11p15.4 11 6403667T> G null S R 293 293 missense 0.737 possibly damaging 0.19 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1187933951 11p15.4 11 6403665G> T null S R 293 293 missense 0.737 possibly damaging 0.19 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1298584155 11p15.4 11 6403666C> G null S T 293 293 missense 0.013 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1363464695 11p15.4 11 6403661G> C null Q E 295 295 missense 0.005 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs769592950 11p15.4 11 6403652A> G null S P 298 298 missense 0.0 benign 0.48 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs940658222 11p15.4 11 6403540G> A null T I 301 301 missense 0.43 benign 0.1 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs940658222 11p15.4 11 6403540G> T null T N 301 301 missense 0.351 benign 0.29 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs940658222 11p15.4 11 6403540G> C null T S 301 301 missense 0.014 benign 0.68 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs755142230 11p15.4 11 6403537C> G null W S 302 302 missense 0.535 possibly damaging 0.11 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs751840387 11p15.4 11 6403531C> T null G D 304 304 missense 0.01 benign 0.8 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs766304834 11p15.4 11 6403526C> T null A T 306 306 missense 0.0 benign 0.18 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1026550023 11p15.4 11 6403522T> A null H L 307 307 missense 0.051 benign 0.3 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1026550023 11p15.4 11 6403522T> C null H R 307 307 missense 0.19 benign 0.52 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,gnomAD rs375047941 11p15.4 11 6403519C> T null G E 308 308 missense 0.015 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1474080707 11p15.4 11 6403520C> G null G R 308 308 missense 0.0 benign 0.51 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1293725364 11p15.4 11 6403513C> A null G V 310 310 missense 0.058 benign 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1457281686 11p15.4 11 6403511A> C null F V 311 311 missense 0.006 benign 0.51 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs765335625 11p15.4 11 6403508C> T null E K 312 312 missense 0.19 benign 0.88 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs985220934 11p15.4 11 6403504T> A null D V 313 313 missense 0.063 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1039649038 11p15.4 11 6403501C> T null G E 314 314 missense 0.457 possibly damaging 0.2 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1265992683 11p15.4 11 6403402A> T null D E 319 319 missense 0.0 benign 0.21 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139279981 11p15.4 11 6403403T> C null D G 319 319 2.0E-4 missense 0.0 benign 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs754705345 11p15.4 11 6403401C> G null E Q 320 320 missense 0.025 benign 0.42 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs370118988 11p15.4 11 6403400T> A null E V 320 320 missense 0.005 benign 0.57 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1435753573 11p15.4 11 6403391T> A null D V 323 323 missense 0.009 benign 0.31 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1203870925 11p15.4 11 6403392C> A null D Y 323 323 missense 0.059 benign 0.19 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1264571370 11p15.4 11 6403387C> A null E D 324 324 missense 0.424 benign 0.31 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1196349583 11p15.4 11 6403383G> C null P A 326 326 missense 0.0 benign 0.76 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1800423 11p15.4 11 6403380T> A null M L 327 327 0.003395 missense 0.0 benign 0.39 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800423 11p15.4 11 6403380T> C null M V 327 327 0.003395 missense 0.003 benign 0.39 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs142988496 11p15.4 11 6403375C> G null E D 328 328 missense 0.0 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1451792440 11p15.4 11 6403370C> T null G E 330 330 missense 0.0 benign 0.22 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs765245756 11p15.4 11 6403352T> C null E G 336 336 missense 0.0 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1177060282 11p15.4 11 6403349C> A null G V 337 337 missense 0.047 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs377574256 11p15.4 11 6403346G> T null T K 338 338 missense 0.085 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs377574256 11p15.4 11 6403346G> A null T M 338 338 missense 0.321 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs776535122 11p15.4 11 6403338A> T null F I 341 341 missense 0.0 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs867190064 11p15.4 11 6403335G> A null P S 342 342 missense 0.0 benign 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,gnomAD rs774997932 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p15.4 11 6403332C> T null A T 343 343 missense 0.0 benign 0.03 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1483956034 11p15.4 11 6403323G> A null L F 346 346 missense 0.461 possibly damaging 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs757422847 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6403200G> A null P L 350 350 missense 0.078 benign 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs779065276 11p15.4 11 6403201G> A null P S 350 350 missense 0.037 benign 0.27 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs764190772 11p15.4 11 6403196C> A null L F 351 351 missense 0.07 benign 0.71 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1199436745 11p15.4 11 6403194G> A null P L 352 352 missense 0.535 possibly damaging 0.09 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs755833445 11p15.4 11 6403191T> C null Q R 353 353 missense 0.19 benign 0.29 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1273075291 11p15.4 11 6403182T> C null E G 356 356 missense 0.001 benign 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1218194209 11p15.4 11 6403183C> T null E K 356 356 missense 0.056 benign 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs1050970164 11p15.4 11 6403179T> G null K T 357 357 missense 0.025 benign 0.32 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs765627103 11p15.4 11 6403177G> A null L F 358 358 missense 0.003 benign 0.47 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs765627103 11p15.4 11 6403177G> C null L V 358 358 missense 0.027 benign 0.35 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs767236350 11p15.4 11 6403173G> A null P L 359 359 missense 0.0 benign 0.59 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs773998034 11p15.4 11 6403170G> T null P Q 360 360 missense 0.0 benign 0.37 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373569914 11p15.4 11 6403168G> C null R G 361 361 2.0E-4 missense 0.061 benign 0.34 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs777119203 11p15.4 11 6403167C> T null R Q 361 361 missense 0.073 benign 0.31 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373569914 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22923510,cosmic_study:434 11p15.4 11 6403168G> A null R W 361 361 2.0E-4 missense 0.353 benign 0.18 tolerated 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1379656127 11p15.4 11 6403155G> C null P R 365 365 missense 0.027 benign 0.24 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs769249728 11p15.4 11 6403153C> T null G R 366 366 missense 0.606 possibly damaging 0.22 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs769249728 11p15.4 11 6403153C> A null G W 366 366 missense 0.754 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1451983960 11p15.4 11 6402718G> T null A D 371 371 missense 0.95 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,gnomAD rs144059856 11p15.4 11 6402719C> T null A T 371 371 missense 0.206 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs371824310 11p15.4 11 6402716C> G null V L 372 372 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs371824310 11p15.4 11 6402716C> T null V M 372 372 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368805217 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11p15.4 11 6402713G> A null R C 373 373 missense 0.992 probably damaging 0.02 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375733189 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p15.4 11 6402712C> T null R H 373 373 missense 0.244 benign 0.02 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs375733189 11p15.4 11 6402712C> A null R L 373 373 missense 0.929 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1278062591 11p15.4 11 6402709G> C null S C 374 374 missense 0.811 possibly damaging 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1438791327 11p15.4 11 6402703C> G null G A 376 376 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs769768168 11p15.4 11 6402693C> A null E D 379 379 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs769768168 11p15.4 11 6402693C> G null E D 379 379 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1325592857 11p15.4 11 6402691A> G null M T 380 380 missense 0.831 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1439129717 11p15.4 11 6402688G> A null T I 381 381 missense 0.906 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1399669640 11p15.4 11 6402685T> C null E G 382 382 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,gnomAD rs781050131 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22495314,cosmic_study:384 11p15.4 11 6402686C> T null E K 382 382 missense 0.992 probably damaging 0.0 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs772528055 11p15.4 11 6402683C> T null E K 383 383 missense 0.991 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs772528055 11p15.4 11 6402683C> G null E Q 383 383 missense 0.994 probably damaging 0.11 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs757999243 11p15.4 11 6402673G> C null A G 386 386 missense 0.867 possibly damaging 0.05 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs757999243 11p15.4 11 6402673G> A null A V 386 386 missense 0.304 benign 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs750110975 11p15.4 11 6402671G> C null P A 387 387 missense 0.007 benign 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs373773932 cosmic curated [Cosmic]: breast pubmed:22722201,cosmic_study:385 11p15.4 11 6402665G> A null R C 389 389 missense 0.818 possibly damaging 0.0 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs761284224 11p15.4 11 6402664C> T null R H 389 389 missense 0.667 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs913507500 11p15.4 11 6402658C> T null S N 391 391 missense 0.356 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs753239888 11p15.4 11 6402657A> T null S R 391 391 missense 0.817 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,gnomAD rs200624007 11p15.4 11 6402656C> G null V L 392 392 2.0E-4 missense 0.077 benign 0.07 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1346037295 11p15.4 11 6402653C> A null A S 393 393 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1346037295 11p15.4 11 6402653C> T null A T 393 393 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs1800425 11p15.4 11 6402643T> C null N S 396 396 missense 0.963 probably damaging 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs774806243 11p15.4 11 6402637A> C null I S 398 398 missense 0.988 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1367774259 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6402635G> A null R C 399 399 missense 0.921 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370357442 cosmic curated [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23525077,cosmic_study:464 11p15.4 11 6402634C> T null R H 399 399 missense 0.839 possibly damaging 0.0 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs370357442 11p15.4 11 6402634C> G null R P 399 399 missense 0.938 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1342959548 11p15.4 11 6402629G> A null L F 401 401 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs936167780 11p15.4 11 6402625G> C null S C 402 402 missense 0.023 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1339968771 11p15.4 11 6402618G> C null H Q 404 404 missense 0.098 benign 0.37 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs773318863 11p15.4 11 6402617T> C null K E 405 405 missense 0.705 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1374516703 11p15.4 11 6402616T> C null K R 405 405 missense 0.835 possibly damaging 0.17 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs925700354 11p15.4 11 6402603A> C null H Q 409 409 missense 0.861 possibly damaging 0.05 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1247037775 11p15.4 11 6402598G> C null P R 411 411 missense 0.997 probably damaging 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs201889999 11p15.4 11 6402596T> C null M V 412 412 7.99E-4 missense 0.011 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1266158139 11p15.4 11 6402583C> T null W * 416 416 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1428601422 11p15.4 11 6402582C> G null W C 416 416 missense 0.993 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1185890784 11p15.4 11 6402580C> T null G E 417 417 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1390497823 11p15.4 11 6402581C> T null G R 417 417 missense 0.995 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs775422772 11p15.4 11 6402201A> T null D E 421 421 missense 0.012 benign 0.11 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1229337223 11p15.4 11 6402203C> T null D N 421 421 missense 0.577 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,gnomAD rs376117819 11p15.4 11 6402190T> A null Q L 425 425 missense 0.092 benign 0.24 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1297246703 11p15.4 11 6402180A> T null D E 428 428 missense 0.0 benign 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1350770533 11p15.4 11 6402181T> A null D V 428 428 missense 0.218 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1002078749 11p15.4 11 6402177C> A null E D 429 429 missense 0.0 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs745685977 11p15.4 11 6402176T> C null T A 430 430 missense 0.012 benign 0.07 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1351341057 11p15.4 11 6402168C> G null K N 432 432 missense 0.109 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1250030189 11p15.4 11 6402164C> T null V M 434 434 missense 0.805 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs1201634486 11p15.4 11 6402160T> C null E G 435 435 missense 0.311 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs756808781 11p15.4 11 6402158G> A null P S 436 436 missense 0.644 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,gnomAD rs371138376 11p15.4 11 6402151C> T null S N 438 438 missense 0.0 benign 0.16 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs201361208 11p15.4 11 6402145G> C null A G 440 440 2.0E-4 missense 0.021 benign 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs755699003 11p15.4 11 6402140G> C null L V 442 442 missense 0.013 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143708016 11p15.4 11 6402135G> C null H Q 443 443 7.99E-4 missense 0.647 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs201574597 11p15.4 11 6402133G> C null A G 444 444 missense 0.0 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs758804617 11p15.4 11 6402134C> G null A P 444 444 missense 0.416 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs758804617 11p15.4 11 6402134C> T null A T 444 444 missense 0.001 benign 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs765658334 11p15.4 11 6402125T> C null I V 447 447 missense 0.122 benign 0.13 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs764107827 11p15.4 11 6402120G> C null I M 448 448 missense 0.069 benign 0.05 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs776918506 11p15.4 11 6402121A> G null I T 448 448 missense 0.024 benign 0.73 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs760805206 11p15.4 11 6402117G> T null S R 449 449 missense 0.976 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs200508948 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 11p15.4 11 6402113G> A null R C 451 451 missense 0.972 probably damaging 0.0 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,gnomAD rs772042074 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11p15.4 11 6402112C> T null R H 451 451 missense 0.94 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs773975178 11p15.4 11 6402110C> T null V M 452 452 missense 0.915 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs748833409 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 11p15.4 11 6402101C> T null V I 455 455 missense 0.14 benign 0.01 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1458939775 11p15.4 11 6402098C> T null G R 456 456 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,TOPMed rs551005611 11p15.4 11 6402094C> T null R Q 457 457 2.0E-4 missense 0.139 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1158664500 11p15.4 11 6402095G> A null R W 457 457 missense 0.917 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1367568677 11p15.4 11 6402092C> T null D N 458 458 missense 0.167 benign 0.05 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1304852562 11p15.4 11 6402089T> A null S C 459 459 missense 0.45 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1304852562 11p15.4 11 6402089T> C null S G 459 459 missense 0.0 benign 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,gnomAD rs184502560 11p15.4 11 6401981C> T null E K 462 462 3.99E-4 missense 0.701 possibly damaging 0.23 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1175114681 11p15.4 11 6401680G> A null A V 466 466 missense 0.178 benign 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1434609942 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11p15.4 11 6401677T> C null Y C 467 467 missense 0.922 probably damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1394180630 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6401675C> T null V I 468 468 missense 0.115 benign 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs753615346 11p15.4 11 6401672C> T null A T 469 469 missense 0.026 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs763823283 11p15.4 11 6401669G> A null R C 470 470 missense 0.818 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139600801 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6401668C> T null R H 470 470 2.0E-4 missense 0.667 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs763823283 11p15.4 11 6401669G> T null R S 470 470 missense 0.298 benign 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1194048316 11p15.4 11 6401666C> T null D N 471 471 missense 0.381 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1388651330 11p15.4 11 6401663T> G null K Q 472 472 missense 0.045 benign 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1282436503 11p15.4 11 6401662T> C null K R 472 472 missense 0.078 benign 0.09 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs775016386 11p15.4 11 6401660G> T null L M 473 473 missense 0.659 possibly damaging 0.22 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs766998007 11p15.4 11 6401647A> G null L P 477 477 missense 0.955 probably damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1272767279 11p15.4 11 6401645T> C null K E 478 478 missense 0.276 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1232521761 11p15.4 11 6401644T> C null K R 478 478 missense 0.437 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1429489760 11p15.4 11 6401636C> T null V M 481 481 missense 0.595 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs184224900 NCI-TCGA Cosmic [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23292937,cosmic_study:375,cosmic_study:376,cosmic_study:482 11p15.4 11 6401630G> A null R C 483 483 2.0E-4 missense 0.818 possibly damaging 0.0 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs765361536 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6401629C> T null R H 483 483 missense 0.667 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs765361536 cosmic curated [Cosmic]: kidney cosmic_study:416 11p15.4 11 6401629C> A null R L 483 483 missense 0.006 benign 0.02 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs780201855 11p15.4 11 6401622C> A null E D 485 485 missense 0.0 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,gnomAD rs772276564 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11p15.4 11 6401621C> G null A P 486 486 missense 0.23 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs772276564 11p15.4 11 6401621C> T null A T 486 486 missense 0.005 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs778976904 11p15.4 11 6401618G> A null P S 487 487 missense 0.124 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs778976904 11p15.4 11 6401618G> T null P T 487 487 missense 0.165 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1420224536 11p15.4 11 6401612T> A null K * 489 489 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1420224536 11p15.4 11 6401612T> C null K E 489 489 missense 0.225 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs781194975 11p15.4 11 6401611T> C null K R 489 489 missense 0.274 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs757216770 11p15.4 11 6401606T> A null I F 491 491 missense 0.476 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1190353452 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11p15.4 11 6401603C> T null A T 492 492 missense 0.764 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs777563289 11p15.4 11 6401600T> G null T P 493 493 missense 0.003 benign 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs755917836 11p15.4 11 6401599G> C null T S 493 493 missense 0.005 benign 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1208546576 11p15.4 11 6401597T> C null S G 494 494 missense 0.817 possibly damaging 0.05 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs767196165 11p15.4 11 6401595G> C null S R 494 494 missense 0.987 probably damaging 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs767196165 11p15.4 11 6401595G> T null S R 494 494 missense 0.987 probably damaging 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1251872377 11p15.4 11 6401596C> G null S T 494 494 missense 0.663 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs1564936219 11p15.4 11 6401590T> C null H R 496 496 missense 0.979 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1392502185 11p15.4 11 6401581C> A null C F 499 499 missense 0.371 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs777019469 11p15.4 11 6401576T> C null K E 501 501 missense 0.154 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs751674594 11p15.4 11 6401429T> C null I V 502 502 missense 0.978 probably damaging 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs754789288 11p15.4 11 6401420C> A null E * 505 505 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs754789288 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6401420C> T null E K 505 505 missense 0.606 possibly damaging 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs746641311 11p15.4 11 6401419T> A null E V 505 505 missense 0.731 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs757918798 11p15.4 11 6401417G> C null R G 506 506 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs376108082 11p15.4 11 6401416C> A null R L 506 506 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376108082 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6401416C> T null R Q 506 506 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs757918798 11p15.4 11 6401417G> A null R W 506 506 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs756543490 11p15.4 11 6401414G> A null R C 507 507 missense 0.981 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs142613637 11p15.4 11 6401413C> T null R H 507 507 missense 0.945 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs142613637 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6401413C> G null R P 507 507 missense 0.952 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs767975624 11p15.4 11 6401409A> T null N K 508 508 missense 0.192 benign 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1418270959 11p15.4 11 6401410T> C null N S 508 508 missense 0.007 benign 0.62 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs918648429 11p15.4 11 6401408C> T null A T 509 509 missense 0.145 benign 0.15 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371560245 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6401405G> A null R C 510 510 3.99E-4 missense 0.948 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,NCI-TCGA,gnomAD rs144723218 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6401404C> T null R H 510 510 missense 0.893 possibly damaging 0.07 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1037548695 11p15.4 11 6401401C> T null C Y 511 511 missense 0.549 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1259796548 11p15.4 11 6401397C> G null L F 512 512 missense 0.795 possibly damaging 0.3 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs763250308 11p15.4 11 6401396C> T null V I 513 513 missense 0.07 benign 0.43 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1349827624 11p15.4 11 6401392T> C null N S 514 514 missense 0.021 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs1564935761 11p15.4 11 6401377T> C null D G 519 519 missense 0.996 probably damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs748029192 11p15.4 11 6401378C> T null D N 519 519 missense 0.996 probably damaging 0.11 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs746870513 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23292937,cosmic_study:482 11p15.4 11 6401359T> A null D V 525 525 missense 0.113 benign 0.04 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs779739721 11p15.4 11 6401357C> T null V I 526 526 missense 0.056 benign 0.4 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs770651554 11p15.4 11 6401060G> A null A V 534 534 missense 0.044 benign 0.22 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs773670333 11p15.4 11 6401057G> A null P L 535 535 missense 0.998 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs769451274 11p15.4 11 6401042A> G null V A 540 540 missense 0.596 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs769451274 11p15.4 11 6401042A> T null V D 540 540 missense 0.788 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,gnomAD rs373363005 11p15.4 11 6401039T> C null Q R 541 541 missense 0.568 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs528578071 11p15.4 11 6401035C> A null K N 542 542 missense 0.419 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs528578071 11p15.4 11 6401035C> G null K N 542 542 missense 0.419 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1216570107 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6401024T> C null Y C 546 546 missense 0.989 probably damaging 0.18 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs754998524 11p15.4 11 6401018A> G null L P 548 548 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs990048714 11p15.4 11 6401013T> G null N H 550 550 missense 0.91 probably damaging 0.37 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs143081866 11p15.4 11 6401011A> C null N K 550 550 missense 0.44 benign 0.52 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs779260081 11p15.4 11 6401012T> C null N S 550 550 missense 0.027 benign 0.89 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140731057 11p15.4 11 6401010C> T null V I 551 551 2.0E-4 missense 0.39 benign 0.16 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs979700045 11p15.4 11 6401007G> T null P T 552 552 missense 0.071 benign 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,gnomAD rs147235391 11p15.4 11 6400995G> A null P S 556 556 missense 0.98 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs868603562 11p15.4 11 6396213C> A null V L 559 559 missense 0.127 benign 0.05 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1358208517 11p15.4 11 6396207C> T null V M 561 561 missense 0.987 probably damaging 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,TOPMed,gnomAD rs368741206 11p15.4 11 6396197C> T null G E 564 564 missense 0.199 benign 0.1 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,gnomAD rs775846607 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; impact., [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 11p15.4 11 6396189C> T null E K 567 567 missense 0.756 possibly damaging 0.01 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1243881636 11p15.4 11 6396176G> A null S F 571 571 missense 0.993 probably damaging 0.07 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs772569756 11p15.4 11 6396170C> G null S T 573 573 missense 0.009 benign 0.47 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs746363885 11p15.4 11 6396168T> A null S C 574 574 missense 0.034 benign 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1213535013 11p15.4 11 6396167C> A null S I 574 574 missense 0.534 possibly damaging 0.09 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs906152344 11p15.4 11 6396165G> A null R C 575 575 missense 0.979 probably damaging 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1046276459 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6396164C> T null R H 575 575 missense 0.874 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1278537648 11p15.4 11 6396158T> C null Q R 577 577 missense 0.462 possibly damaging 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1340887055 11p15.4 11 6396152G> A null T I 579 579 missense 0.127 benign 0.16 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs757637279 11p15.4 11 6396146C> A null S I 581 581 missense 0.613 possibly damaging 0.12 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs757637279 11p15.4 11 6396146C> G null S T 581 581 missense 0.364 benign 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1217450667 11p15.4 11 6396141C> T null V I 583 583 missense 0.989 probably damaging 0.2 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs950252038 11p15.4 11 6396137C> T null S N 584 584 missense 0.039 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144100830 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 11p15.4 11 6396131G> A null A V 586 586 missense 0.998 probably damaging 0.0 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs756136978 11p15.4 11 6396129G> A null P S 587 587 missense 0.232 benign 0.37 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1411549038 11p15.4 11 6396126C> T null A T 588 588 missense 0.997 probably damaging 0.19 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1420119374 11p15.4 11 6396125G> A null A V 588 588 missense 0.994 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs778797525 11p15.4 11 6395946C> G null G A 602 602 missense 0.16 benign 1.0 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1225267579 11p15.4 11 6395943T> G null E A 603 603 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs755062917 11p15.4 11 6395937C> T null R Q 605 605 missense 0.995 probably damaging 0.04 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1360474006 11p15.4 11 6395938G> A null R W 605 605 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs200270654 11p15.4 11 6395934A> C null V G 606 606 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs750182977 11p15.4 11 6395932G> A null R C 607 607 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs750182977 11p15.4 11 6395932G> C null R G 607 607 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs750182977 11p15.4 11 6395932G> T null R S 607 607 missense 0.999 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC rs761484051 11p15.4 11 6395928A> T null F Y 608 608 missense 0.987 probably damaging 0.08 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1349575692 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11p15.4 11 6395911C> T null V M 614 614 missense 0.999 probably damaging 0.0 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1205691235 11p15.4 11 6395903T> A null R S 616 616 missense 0.805 possibly damaging 0.05 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1178595783 11p15.4 11 6395871G> C null A G 627 627 missense 0.311 benign 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs1564930521 11p15.4 11 6395872C> T null A T 627 627 missense 0.132 benign 0.92 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs770078300 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11p15.4 11 6395869C> T null G S 628 628 missense 0.968 probably damaging 0.02 deleterious 1 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes,ExAC,gnomAD rs549336071 11p15.4 11 6395865G> C null P R 629 629 2.0E-4 missense 1.0 probably damaging 0.12 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1214851034 11p15.4 11 6395866G> A null P S 629 629 missense 0.998 probably damaging 0.44 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1446094681 11p15.4 11 6395862G> T null A D 630 630 missense 0.12 benign 0.86 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1385562054 11p15.4 11 6395863C> T null A T 630 630 missense 0.045 benign 0.21 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1161267964 11p15.4 11 6395856A> C null F C 632 632 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs781310770 11p15.4 11 6395857A> G null F L 632 632 missense 0.841 possibly damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs768775691 11p15.4 11 6395852G> C null C W 633 633 missense 0.629 possibly damaging 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs867604214 11p15.4 11 6395826T> C null N S 642 642 missense 0.988 probably damaging 0.03 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs750415619 11p15.4 11 6395823G> A null A V 643 643 missense 0.997 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1339221321 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 6395817C> T null S N 645 645 missense 0.494 possibly damaging 0.38 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,gnomAD rs757048002 11p15.4 11 6395802A> C null V G 650 650 missense 1.0 probably damaging 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1433099211 11p15.4 11 6395800G> A null Q * 651 651 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs1284515823 11p15.4 11 6395264G> T null L M 661 661 missense 0.388 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1246346262 11p15.4 11 6395263A> C null L R 661 661 missense 0.388 benign 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1221401765 11p15.4 11 6395258G> A null Q * 663 663 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1316679949 11p15.4 11 6395248G> C null P R 666 666 missense 0.0 unknown 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs931145599 11p15.4 11 6395246G> C null H D 667 667 missense 0.0 unknown 0.28 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs931145599 11p15.4 11 6395246G> A null H Y 667 667 missense 0.0 unknown 0.85 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1346293110 11p15.4 11 6395243G> A null P S 668 668 missense 0.0 unknown 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs920650145 11p15.4 11 6395233G> A null P L 671 671 missense 0.0 unknown 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1284299567 11p15.4 11 6395234G> A null P S 671 671 missense 0.0 unknown 0.01 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1273786670 11p15.4 11 6395230C> T null S N 672 672 missense 0.0 unknown 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1246634979 11p15.4 11 6395229G> T null S R 672 672 missense 0.0 unknown 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs916490216 11p15.4 11 6395226C> A null R S 673 673 missense 0.0 unknown 0.06 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 ExAC,TOPMed,gnomAD rs750067292 11p15.4 11 6395213T> A null K * 678 678 stop gained 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1471912619 11p15.4 11 6395212T> C null K R 678 678 missense 0.0 unknown 0.92 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 1000Genomes rs534098273 11p15.4 11 6395204C> T null V I 681 681 2.0E-4 missense 0.0 unknown 0.07 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1278362638 11p15.4 11 6395199C> A null Q H 682 682 missense 0.0 unknown 0.02 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs764479787 11p15.4 11 6395197G> A null A V 683 683 missense 0.0 unknown 0.11 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 gnomAD rs1358338093 11p15.4 11 6395188G> A null P L 686 686 missense 0.0 unknown 0.14 tolerated 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs970582852 11p15.4 11 6395185G> A null S F 687 687 missense 0.0 unknown 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed,gnomAD rs970582852 11p15.4 11 6395185G> T null S Y 687 687 missense 0.0 unknown 0.0 deleterious 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1453069380 11p15.4 11 6395182G> T null P H 688 688 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1025858354 11p15.4 11 6395183G> A null P S 688 688 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 Ensembl rs763378997 11p15.4 11 6395171C> G null G R 692 692 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1279640805 11p15.4 11 6395167G> A null T I 693 693 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1266761120 11p15.4 11 6395143A> G null I T 701 701 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs956257923 11p15.4 11 6395138A> C null S A 703 703 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A075B7G8 APBB1 Amyloid-beta A4 precursor protein-binding family B member 1 TOPMed rs1031897642 11p15.4 11 6395132A> G null C R 705 705 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs765354373 19q13.33 19 49666700G> A null G D 3 3 missense 0.529 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1161939620 19q13.33 19 49666703C> T null S F 4 4 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes rs565456485 19q13.33 19 49666709A> G null E G 6 6 2.0E-4 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs763505634 19q13.33 19 49666714G> C null G R 8 8 missense 0.027 benign 0.04 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs766881200 19q13.33 19 49666715G> T null G V 8 8 missense 0.714 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs751993522 19q13.33 19 49666721G> T null R L 10 10 missense 0.343 benign 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs751993522 19q13.33 19 49666721G> C null R P 10 10 missense 0.695 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs751993522 19q13.33 19 49666721G> A null R Q 10 10 missense 0.011 benign 0.06 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1459792321 [NCI-TCGA]: Variant assessed as Somatic; impact. 19q13.33 19 49666720C> T null R W 10 10 missense 0.796 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs755326539 19q13.33 19 49666727A> C null D A 12 12 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1487367571 19q13.33 19 49666730C> T null T M 13 13 missense 0.578 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1270982342 19q13.33 19 49666738G> A null V I 16 16 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1480685684 19q13.33 19 49666744G> A null A T 18 18 missense 0.013 benign 0.08 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 Ensembl rs912221575 19q13.33 19 49666747G> T null A S 19 19 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1375781089 19q13.33 19 49666751T> G null F C 20 20 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1198077435 19q13.33 19 49666750T> A null F I 20 20 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs752340125 19q13.33 19 49666753C> T null L F 21 21 missense 0.007 benign 0.13 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs755761215 19q13.33 19 49666757G> C null R T 22 22 missense 0.088 benign 0.01 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1417341708 19q13.33 19 49666759C> T null R C 23 23 missense 0.96 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1029821444 19q13.33 19 49666763G> A null G D 24 24 missense 0.904 possibly damaging 0.07 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs777492056 19q13.33 19 49666771G> T null A S 27 27 missense 0.192 benign 0.08 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs777492056 19q13.33 19 49666771G> A null A T 27 27 missense 0.144 benign 0.06 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1366736004 19q13.33 19 49666774G> A null G R 28 28 missense 0.007 benign 0.1 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs779001516 19q13.33 19 49666778C> T null S F 29 29 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1337945093 19q13.33 19 49666781C> T null P L 30 30 missense 0.003 benign 0.16 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1240159330 19q13.33 19 49666789A> G null T A 33 33 missense 0.003 benign 0.08 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1240159330 19q13.33 19 49666789A> C null T P 33 33 missense 0.469 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1351712110 19q13.33 19 49666795C> T null P S 35 35 missense 0.118 benign 0.05 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1177883682 19q13.33 19 49667021G> T null S I 37 37 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739444 19q13.33 19 49667023C> G null P A 38 38 0.005391 missense 0.081 benign 0.03 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739444 19q13.33 19 49667023C> T null P S 38 38 0.005391 missense 0.011 benign 0.09 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1392349085 19q13.33 19 49667034A> C null E D 41 41 missense 0.006 benign 0.13 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1399200973 19q13.33 19 49667033A> G null E G 41 41 missense 0.277 benign 0.06 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs561985380 19q13.33 19 49667032G> A null E K 41 41 missense 0.277 benign 0.02 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147519290 19q13.33 19 49667056C> T null R C 49 49 5.99E-4 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs763853521 19q13.33 19 49667057G> A null R H 49 49 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC rs753475471 19q13.33 19 49667059C> G null L V 50 50 missense 0.189 benign 0.02 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs756861401 19q13.33 19 49667062C> T null R * 51 51 stop gained 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed rs745845178 19q13.33 19 49667066G> T null R I 52 52 missense 0.858 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1238581561 19q13.33 19 49667067A> T null R S 52 52 missense 0.563 possibly damaging 0.07 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs368658859 19q13.33 19 49667068T> A null C S 53 53 missense 0.991 probably damaging 0.04 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs779783132 19q13.33 19 49667069G> A null C Y 53 53 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs972656772 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49667081C> T null S F 57 57 missense 0.466 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1339513511 19q13.33 19 49667084T> C null L P 58 58 missense 0.899 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1481540700 19q13.33 19 49667086G> C null G R 59 59 missense 0.018 benign 0.1 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC rs746830946 19q13.33 19 49667087G> T null G V 59 59 missense 0.553 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs140106231 19q13.33 19 49667089C> T null R * 60 60 stop gained 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs145624833 19q13.33 19 49667090G> T null R L 60 60 missense 0.343 benign 0.02 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs145624833 19q13.33 19 49667090G> A null R Q 60 60 missense 0.011 benign 0.33 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs749460584 19q13.33 19 49667101C> G null P A 64 64 missense 0.06 benign 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 Ensembl rs1568474665 19q13.33 19 49667102C> T null P L 64 64 missense 0.003 benign 0.04 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs749460584 19q13.33 19 49667101C> T null P S 64 64 missense 0.088 benign 0.16 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1422750507 19q13.33 19 49667108A> G null E G 66 66 missense 0.608 possibly damaging 0.08 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149021967 19q13.33 19 49667113C> T null P S 68 68 0.001797 missense 0.013 benign 0.21 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149021967 19q13.33 19 49667113C> A null P T 68 68 0.001797 missense 0.201 benign 0.11 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148704394 19q13.33 19 49667117G> A null R Q 69 69 2.0E-4 missense 0.992 probably damaging 0.03 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1375291675 19q13.33 19 49667116C> T null R W 69 69 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 Ensembl rs754531320 19q13.33 19 49667119C> T null P S 70 70 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,NCI-TCGA,TOPMed,gnomAD rs764515780 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49667126C> G null S C 72 72 missense 0.726 possibly damaging 0.09 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs764515780 19q13.33 19 49667126C> T null S F 72 72 missense 0.007 benign 0.47 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1216039695 19q13.33 19 49667131C> T null P S 74 74 missense 0.996 probably damaging 0.06 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs749948441 19q13.33 19 49667134A> T null I F 75 75 missense 0.082 benign 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs749948441 19q13.33 19 49667134A> G null I V 75 75 missense 0.017 benign 0.11 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201494242 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19q13.33 19 49667137C> T null R C 76 76 missense 0.556 possibly damaging 0.06 tolerated 1 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs780042038 19q13.33 19 49667138G> A null R H 76 76 missense 0.003 benign 0.21 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs373441295 19q13.33 19 49667141C> T null P L 77 77 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs751409023 19q13.33 19 49667140C> T null P S 77 77 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ExAC,gnomAD rs200118913 19q13.33 19 49667147A> G null Y C 79 79 2.0E-4 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1205277359 19q13.33 19 49667157G> T null E D 82 82 missense 0.017 benign 0.09 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs771136296 19q13.33 19 49667159C> G null P R 83 83 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1237710400 19q13.33 19 49667158C> T null P S 83 83 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1469995917 19q13.33 19 49668851G> A null G D 84 84 missense 0.012 benign 0.05 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1180865334 19q13.33 19 49667161G> A null G S 84 84 missense 0.021 benign 0.07 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes rs527816278 19q13.33 19 49668854C> T null P L 85 85 2.0E-4 missense 0.646 possibly damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1367523433 19q13.33 19 49668853C> A null P T 85 85 missense 0.526 possibly damaging 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs755806997 19q13.33 19 49668860C> T null T I 87 87 missense 0.555 possibly damaging 0.04 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1275345066 19q13.33 19 49668865G> C null D H 89 89 missense 0.035 benign 0.04 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151271269 19q13.33 19 49668870C> G null F L 90 90 2.0E-4 missense 0.98 probably damaging 0.07 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199837123 19q13.33 19 49668868T> G null F V 90 90 2.0E-4 missense 0.994 probably damaging 0.04 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1253632412 19q13.33 19 49668872A> G null Y C 91 91 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs772216813 19q13.33 19 49668871T> C null Y H 91 91 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs779977322 19q13.33 19 49668874G> T null A S 92 92 missense 0.093 benign 0.49 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs747562240 19q13.33 19 49668875C> T null A V 92 92 missense 0.346 benign 0.13 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1039820751 19q13.33 19 49668879G> C null L F 93 93 missense 0.998 probably damaging 0.05 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ExAC rs201252888 19q13.33 19 49668878T> C null L S 93 93 2.0E-4 missense 0.998 probably damaging 0.66 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1321617085 19q13.33 19 49668886C> T null Q * 96 96 missense 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs762286281 19q13.33 19 49668890G> T null R L 97 97 missense 0.982 probably damaging 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs762286281 19q13.33 19 49668890G> A null R Q 97 97 missense 0.981 probably damaging 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ExAC,TOPMed,gnomAD rs201397773 19q13.33 19 49668889C> T null R W 97 97 5.99E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1246607208 19q13.33 19 49668895G> T null E * 99 99 missense 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs770010032 19q13.33 19 49668896A> G null E G 99 99 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1381156421 19q13.33 19 49668900G> C null Q H 100 100 missense 0.73 possibly damaging 0.05 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1483180715 19q13.33 19 49668898C> A null Q K 100 100 missense 0.281 benign 0.56 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 Ensembl rs1025675741 19q13.33 19 49668905T> C null V A 102 102 missense 0.986 probably damaging 0.26 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1323757400 19q13.33 19 49668907C> T null Q * 103 103 missense 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1405993005 19q13.33 19 49668917T> C null L P 106 106 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1349177159 19q13.33 19 49668919A> C null K Q 107 107 missense 0.127 benign 0.23 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,NCI-TCGA,TOPMed,gnomAD rs775763410 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49668926C> T null P L 109 109 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs752563985 19q13.33 19 49668929C> T null P L 110 110 missense 0.461 possibly damaging 0.04 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed rs767455546 19q13.33 19 49668928C> T null P S 110 110 missense 0.046 benign 0.05 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 Ensembl,NCI-TCGA rs367607978 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22842228,cosmic_study:511 19q13.33 19 49668935C> T null P L 112 112 missense 0.747 possibly damaging 0.01 deleterious 1 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs750708879 19q13.33 19 49668934C> T null P S 112 112 missense 0.044 benign 0.08 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1221053487 19q13.33 19 49669032G> C null G R 116 116 missense 0.804 possibly damaging 0.11 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1259228867 19q13.33 19 49669033G> T null G V 116 116 missense 0.85 possibly damaging 0.04 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs760508249 19q13.33 19 49669035C> A null P T 117 117 missense 0.701 possibly damaging 0.04 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs763991959 19q13.33 19 49669038C> T null P S 118 118 missense 0.346 benign 0.21 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1443154833 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49669042C> T null S L 119 119 missense 0.0 benign 0.44 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs766725307 19q13.33 19 49669047G> A null E K 121 121 missense 0.99 probably damaging 0.04 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1195812442 19q13.33 19 49669053G> A null E K 123 123 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs755126865 19q13.33 19 49669061A> G null I M 125 125 missense 0.051 benign 0.14 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1464928951 19q13.33 19 49669060T> C null I T 125 125 missense 0.025 benign 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144084578 19q13.33 19 49669066G> A null R Q 127 127 2.0E-4 missense 0.995 probably damaging 0.79 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs199610480 19q13.33 19 49669065C> T null R W 127 127 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 Ensembl rs928126859 19q13.33 19 49669070G> C null R S 128 128 missense 0.261 benign 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1409860335 19q13.33 19 49669072T> C null L P 129 129 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs772527764 19q13.33 19 49669077G> A null A T 131 131 missense 0.056 benign 0.16 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1279410113 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49669078C> T null A V 131 131 missense 0.031 benign 0.18 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs771218121 19q13.33 19 49669084T> C null L P 133 133 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1277046035 19q13.33 19 49669087A> T null E V 134 134 missense 0.997 probably damaging 0.04 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs774022711 19q13.33 19 49669089G> C null E Q 135 135 missense 0.996 probably damaging 0.41 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs745474116 19q13.33 19 49669092G> A null E K 136 136 missense 0.972 probably damaging 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1310970396 19q13.33 19 49669098G> A null E K 138 138 missense 0.561 possibly damaging 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1276734430 19q13.33 19 49669099A> T null E V 138 138 missense 0.848 possibly damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs771620703 19q13.33 19 49669101G> A null V I 139 139 missense 0.131 benign 0.23 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs768817373 19q13.33 19 49669104A> T null I F 140 140 missense 0.466 possibly damaging 0.03 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs760734873 19q13.33 19 49669109C> G null N K 141 141 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1168273905 19q13.33 19 49669110C> T null Q * 142 142 stop gained 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,TOPMed,gnomAD rs377666954 19q13.33 19 49669111A> G null Q R 142 142 missense 0.979 probably damaging 0.17 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 Ensembl rs865967945 19q13.33 19 49669114A> G null K R 143 143 missense 0.38 benign 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs754342318 19q13.33 19 49670223C> A null S * 146 146 stop gained 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs754342318 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49670223C> T null S L 146 146 missense 0.012 benign 0.07 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1237153149 19q13.33 19 49670231G> T null A S 149 149 missense 0.688 possibly damaging 0.41 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1237153149 19q13.33 19 49670231G> A null A T 149 149 missense 0.477 possibly damaging 0.45 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1188264885 19q13.33 19 49670241G> T null S I 152 152 missense 0.025 benign 0.12 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1161954441 19q13.33 19 49670249G> T null V F 155 155 missense 0.372 benign 0.08 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1161954441 19q13.33 19 49670249G> C null V L 155 155 missense 0.059 benign 0.09 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs779584010 19q13.33 19 49670252C> T null R C 156 156 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1348204817 19q13.33 19 49670253G> A null R H 156 156 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs779584010 19q13.33 19 49670252C> A null R S 156 156 missense 0.997 probably damaging 0.06 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1374872832 19q13.33 19 49670264G> T null D Y 160 160 missense 0.011 benign 0.25 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1370438790 19q13.33 19 49670267T> C null S P 161 161 missense 0.464 possibly damaging 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ExAC,TOPMed,gnomAD rs545979323 19q13.33 19 49670272C> A null F L 162 162 2.0E-4 missense 0.934 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs768077236 19q13.33 19 49670273G> A null A T 163 163 missense 0.006 benign 0.25 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs112712444 19q13.33 19 49670276C> T null R C 164 164 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs112712444 19q13.33 19 49670276C> G null R G 164 164 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1257048469 19q13.33 19 49670283T> C null V A 166 166 missense 0.018 benign 0.4 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1198991212 19q13.33 19 49670282G> T null V L 166 166 missense 0.244 benign 0.47 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1198991212 19q13.33 19 49670282G> A null V M 166 166 missense 0.306 benign 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1479417122 19q13.33 19 49670291T> C null F L 169 169 missense 0.934 probably damaging 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ExAC,gnomAD rs531871675 19q13.33 19 49670301G> C null R P 172 172 3.99E-4 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ExAC,gnomAD rs531871675 19q13.33 19 49670301G> A null R Q 172 172 3.99E-4 missense 0.992 probably damaging 0.22 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ExAC,TOPMed,gnomAD rs564120529 19q13.33 19 49670300C> T null R W 172 172 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs770712119 19q13.33 19 49670303G> A null D N 173 173 missense 0.01 benign 0.03 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs770712119 19q13.33 19 49670303G> T null D Y 173 173 missense 0.125 benign 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1388577488 19q13.33 19 49670306G> A null D N 174 174 missense 0.01 benign 0.47 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs55995825 19q13.33 19 49670313C> T null S F 176 176 missense 0.466 possibly damaging 0.11 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs760920742 19q13.33 19 49670315C> G null R G 177 177 missense 0.001 benign 0.45 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs760920742 19q13.33 19 49670315C> A null R S 177 177 missense 0.003 benign 0.77 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC rs776758185 19q13.33 19 49670324C> G null R G 180 180 missense 0.042 benign 0.41 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1202823498 19q13.33 19 49670327G> A null A T 181 181 missense 0.005 benign 0.49 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs765735162 19q13.33 19 49670332C> A null C * 182 182 stop gained 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1176889698 19q13.33 19 49670330T> C null C R 182 182 missense 0.997 probably damaging 0.52 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs765735162 19q13.33 19 49670332C> G null C W 182 182 missense 0.997 probably damaging 0.04 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ExAC,TOPMed,gnomAD rs184053498 19q13.33 19 49670334C> G null P R 183 183 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1218855645 19q13.33 19 49670333C> T null P S 183 183 missense 0.998 probably damaging 0.1 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs369243932 19q13.33 19 49670336G> C null G R 184 184 missense 0.814 possibly damaging 0.11 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs369243932 19q13.33 19 49670336G> A null G R 184 184 missense 0.814 possibly damaging 0.11 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1305539536 19q13.33 19 49670337G> T null G V 184 184 missense 0.585 possibly damaging 0.08 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs373173731 19q13.33 19 49670339C> T null P S 185 185 missense 0.996 probably damaging 0.22 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs373173731 19q13.33 19 49670339C> A null P T 185 185 missense 0.998 probably damaging 0.09 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1370531087 19q13.33 19 49670343C> T null P L 186 186 missense 0.624 possibly damaging 0.19 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs754649805 19q13.33 19 49670342C> T null P S 186 186 missense 0.991 probably damaging 0.09 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs375929395 19q13.33 19 49670345C> T null P S 187 187 missense 0.941 probably damaging 0.14 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 Ensembl rs867028494 19q13.33 19 49670352C> T null S F 189 189 missense 0.133 benign 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs747668604 19q13.33 19 49670355C> T null P L 190 190 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1478471739 19q13.33 19 49670354C> T null P S 190 190 missense 0.996 probably damaging 0.17 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1435251870 19q13.33 19 49670360C> G null P A 192 192 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1435251870 19q13.33 19 49670360C> T null P S 192 192 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1435251870 19q13.33 19 49670360C> A null P T 192 192 missense 0.998 probably damaging 0.4 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs777876495 19q13.33 19 49670366G> A null A T 194 194 missense 0.439 benign 0.46 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1400601338 19q13.33 19 49670367C> T null A V 194 194 missense 0.92 probably damaging 0.29 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1359641239 19q13.33 19 49670369C> T null R C 195 195 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1220692199 19q13.33 19 49670370G> A null R H 195 195 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs770672636 19q13.33 19 49670379T> A null L Q 198 198 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1489686921 19q13.33 19 49670386G> A null M I 200 200 missense 0.858 possibly damaging 0.03 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1240826091 19q13.33 19 49670384A> G null M V 200 200 missense 0.644 possibly damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1192084318 19q13.33 19 49670397G> C null R P 204 204 missense 0.8 possibly damaging 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1192084318 cosmic curated [Cosmic]: large_intestine cosmic_study:376 19q13.33 19 49670397G> A null R Q 204 204 missense 0.091 benign 0.04 deleterious 1 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1424731205 19q13.33 19 49670399C> T null R C 205 205 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1372728241 19q13.33 19 49670400G> A null R H 205 205 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1277458544 19q13.33 19 49670402G> C null V L 206 206 missense 0.988 probably damaging 0.23 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 Ensembl rs1568478754 19q13.33 19 49670412T> C null L P 209 209 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1160669026 19q13.33 19 49670411C> G null L V 209 209 missense 0.992 probably damaging 0.41 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs774172855 19q13.33 19 49670414G> A null G R 210 210 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs774172855 19q13.33 19 49670414G> C null G R 210 210 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1018738550 19q13.33 19 49670418G> A null G D 211 211 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1369955865 19q13.33 19 49670424T> G null L R 213 213 missense 0.964 probably damaging 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1438318643 19q13.33 19 49670426G> A null A T 214 214 missense 0.841 possibly damaging 0.41 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1310954538 19q13.33 19 49670427C> T null A V 214 214 missense 0.915 probably damaging 0.22 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs747252998 cosmic curated [Cosmic]: endometrium cosmic_study:419 19q13.33 19 49670429G> A null G R 215 215 missense 0.758 possibly damaging 0.0 deleterious 1 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1275109801 19q13.33 19 49670436G> C null S T 217 217 missense 0.981 probably damaging 0.1 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs768916751 19q13.33 19 49670438G> A null V M 218 218 missense 0.852 possibly damaging 0.15 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1222945101 19q13.33 19 49670441G> A null E K 219 219 missense 0.986 probably damaging 0.5 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1246549736 19q13.33 19 49670445A> G null H R 220 220 missense 0.687 possibly damaging 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs776765121 19q13.33 19 49670447G> C null V L 221 221 missense 0.302 benign 0.48 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs776765121 19q13.33 19 49670447G> A null V M 221 221 missense 0.852 possibly damaging 0.64 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1192053739 19q13.33 19 49670452C> G null H Q 222 222 missense 0.991 probably damaging 0.15 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs377601049 19q13.33 19 49670451A> G null H R 222 222 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs901582987 19q13.33 19 49670454G> C null S T 223 223 missense 0.981 probably damaging 0.38 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs765248333 19q13.33 19 49670456T> C null F L 224 224 missense 0.971 probably damaging 0.04 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1407066152 19q13.33 19 49670460C> T null T M 225 225 missense 0.181 benign 0.12 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1393505715 19q13.33 19 49670462C> T null P S 226 226 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1459642739 19q13.33 19 49670466G> A null W * 227 227 stop gained 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs773736623 19q13.33 19 49670472A> T null Q L 229 229 missense 0.33 benign 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs374151478 19q13.33 19 49670474G> T null A S 230 230 missense 0.992 probably damaging 0.34 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1446214136 19q13.33 19 49670478A> T null H L 231 231 missense 0.037 benign 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1357117189 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.33 19 49670480G> A null G R 232 232 missense 0.655 possibly damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1380690518 19q13.33 19 49670484G> A null G D 233 233 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs957303884 19q13.33 19 49670487G> A null W * 234 234 stop gained 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1177751309 19q13.33 19 49670488G> T null W C 234 234 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs769897677 19q13.33 19 49673700G> C null E D 235 235 missense 0.329 benign 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1288388510 19q13.33 19 49673698G> A null E K 235 235 missense 0.264 benign 0.01 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1328401064 19q13.33 19 49673699A> T null E V 235 235 missense 0.369 benign 0.0 deleterious 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1484691173 19q13.33 19 49673702G> A null G D 236 236 missense 0.621 possibly damaging 0.08 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs773270468 19q13.33 19 49673704A> G null I V 237 237 missense 0.015 benign 0.19 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs945106025 19q13.33 19 49673710G> A null A T 239 239 missense 0.732 possibly damaging 0.29 tolerated 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146479099 19q13.33 19 49673719C> G null P A 242 242 7.99E-4 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1311818212 19q13.33 19 49673723T> A null V E 243 243 missense 0.962 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs141029406 19q13.33 19 49673722G> T null V L 243 243 missense 0.691 possibly damaging 0.11 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ESP,ExAC,TOPMed,gnomAD rs141029406 19q13.33 19 49673722G> A null V M 243 243 missense 0.561 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed,gnomAD rs752439667 19q13.33 19 49673727C> G null D E 244 244 missense 0.994 probably damaging 0.09 tolerated - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1402446223 19q13.33 19 49673726A> G null D G 244 244 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 gnomAD rs1373080141 19q13.33 19 49673725G> T null D Y 244 244 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,TOPMed rs760382689 19q13.33 19 49673737C> G null P A 248 248 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed rs1179940939 19q13.33 19 49673738C> T null P L 248 248 missense 0.998 probably damaging 0.02 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 ExAC,gnomAD rs753393869 19q13.33 19 49673741T> C null L S 249 249 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV0 BCL2L12 Bcl-2-like protein 12 TOPMed,gnomAD rs1276846172 19q13.33 19 49673744A> G null D G 250 250 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs777415321 12q13.2 12 55716082A> T null S C 3 3 missense 0.941 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs746666462 12q13.2 12 55716086T> C null F S 4 4 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs746666462 12q13.2 12 55716086T> A null F Y 4 4 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1366480014 12q13.2 12 55716089G> A null R Q 5 5 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs533860678 12q13.2 12 55716088C> T null R W 5 5 2.0E-4 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) Ensembl rs376797233 12q13.2 12 55716093C> G null S R 6 6 missense 0.109 benign 0.01 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs555408502 12q13.2 12 55716094C> G null R G 7 7 5.99E-4 missense 0.773 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) Ensembl rs751648779 12q13.2 12 55716095G> C null R P 7 7 missense 0.887 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs555408502 12q13.2 12 55716094C> T null R W 7 7 5.99E-4 missense 0.941 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1308593892 12q13.2 12 55716098G> A null R K 8 8 missense 0.578 possibly damaging 0.43 tolerated - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs769138929 12q13.2 12 55716099G> C null R S 8 8 missense 0.773 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371945460 12q13.2 12 55716101G> A null G E 9 9 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs774787679 12q13.2 12 55716100G> A null G R 9 9 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371945460 12q13.2 12 55716101G> T null G V 9 9 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs538559015 12q13.2 12 55716103C> G null P A 10 10 2.0E-4 missense 0.911 probably damaging 0.38 tolerated - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs760836371 12q13.2 12 55716104C> A null P H 10 10 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs760836371 12q13.2 12 55716104C> T null P L 10 10 missense 0.96 probably damaging 0.01 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs760836371 12q13.2 12 55716104C> G null P R 10 10 missense 0.973 probably damaging 0.01 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs538559015 12q13.2 12 55716103C> A null P T 10 10 2.0E-4 missense 0.96 probably damaging 0.01 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs753945618 12q13.2 12 55716107G> A null G D 11 11 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed rs1490181692 12q13.2 12 55716110T> C null V A 12 12 missense 0.0 benign 0.37 tolerated - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) 1000Genomes,ExAC,TOPMed rs142903372 12q13.2 12 55716116G> T null S I 14 14 2.0E-4 missense 0.012 benign 0.09 tolerated - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1439194689 12q13.2 12 55716119C> T null P L 15 15 missense 0.063 benign 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed rs1248263975 12q13.2 12 55716121C> G null Q E 16 16 missense 0.022 benign 0.19 tolerated - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369750791 12q13.2 12 55716123G> T null Q H 16 16 missense 0.152 benign 0.3 tolerated - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs752579209 12q13.2 12 55716125C> T null P L 17 17 missense 0.96 probably damaging 0.01 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs752579209 12q13.2 12 55716125C> G null P R 17 17 missense 0.973 probably damaging 0.01 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs777462750 12q13.2 12 55716127G> T null D Y 18 18 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs756885065 12q13.2 12 55716130G> A null V M 19 19 missense 0.0 benign 0.14 tolerated - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs780881380 12q13.2 12 55716133A> G null T A 20 20 missense 0.14 benign 0.19 tolerated - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs780881380 12q13.2 12 55716133A> T null T S 20 20 missense 0.038 benign 0.19 tolerated - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1316277850 12q13.2 12 55716137T> A null M K 21 21 missense 0.931 probably damaging 0.01 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs769300107 12q13.2 12 55716136A> G null M V 21 21 missense 0.73 possibly damaging 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1362300884 12q13.2 12 55716139C> A null L M 22 22 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1244219754 12q13.2 12 55716143C> T null S F 23 23 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs774864830 12q13.2 12 55716146G> A null R H 24 24 missense 0.007 benign 0.17 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs774864830 12q13.2 12 55716146G> T null R L 24 24 missense 0.229 benign 0.2 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed rs1342886795 12q13.2 12 55716157G> C null E Q 28 28 missense 0.474 possibly damaging 0.03 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed,gnomAD rs1184293887 12q13.2 12 55716162C> G null H Q 29 29 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs777056760 12q13.2 12 55716167C> T null A V 31 31 missense 0.073 benign 0.19 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed,gnomAD rs767243561 12q13.2 12 55716173A> T null Q L 33 33 missense 0.931 probably damaging 0.02 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed,gnomAD rs767243561 12q13.2 12 55716173A> C null Q P 33 33 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed,gnomAD rs767243561 12q13.2 12 55716173A> G null Q R 33 33 missense 0.962 probably damaging 0.01 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs752643141 12q13.2 12 55716177T> G null N K 34 34 missense 0.012 benign 0.92 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs560737080 12q13.2 12 55716176A> G null N S 34 34 2.0E-4 missense 0.006 benign 0.81 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375543154 12q13.2 12 55716178G> T null E * 35 35 stop gained 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs764146127 12q13.2 12 55716181C> T null R C 36 36 missense 0.17 benign 0.09 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed,gnomAD rs1445397217 12q13.2 12 55716182G> T null R L 36 36 missense 0.805 possibly damaging 0.42 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1385586079 12q13.2 12 55716191T> C null L P 39 39 missense 0.708 possibly damaging 0.27 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed,gnomAD rs1336884281 12q13.2 12 55716190C> G null L V 39 39 missense 0.036 benign 0.28 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) Ensembl rs866882436 12q13.2 12 55716193C> A null Q K 40 40 missense 0.805 possibly damaging 0.34 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1284154008 12q13.2 12 55716194A> G null Q R 40 40 missense 0.333 benign 0.27 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs753270295 12q13.2 12 55716942G> A null R K 44 44 missense 0.015 benign 0.49 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs754582684 12q13.2 12 55716945G> A null R Q 45 45 missense 0.369 benign 0.15 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs747531514 12q13.2 12 55716950G> A null A T 47 47 missense 0.779 possibly damaging 0.06 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs771371076 12q13.2 12 55716957C> G null T S 49 49 missense 0.007 benign 0.42 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1444731919 12q13.2 12 55716959G> A null A T 50 50 missense 0.767 possibly damaging 0.06 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs746285076 12q13.2 12 55716966C> T null T I 52 52 missense 0.817 possibly damaging 0.21 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1329568604 12q13.2 12 55716975C> T null T I 55 55 missense 0.062 benign 0.01 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1329568604 12q13.2 12 55716975C> G null T R 55 55 missense 0.062 benign 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) Ensembl rs774046104 12q13.2 12 55716981C> T null A V 57 57 missense 0.059 benign 0.13 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs775848362 12q13.2 12 55716990A> G null D G 60 60 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150789356 12q13.2 12 55716989G> A null D N 60 60 5.99E-4 missense 0.828 possibly damaging 0.03 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375188301 12q13.2 12 55716993A> C null H P 61 61 missense 0.907 possibly damaging 0.03 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs768798087 12q13.2 12 55716995C> T null L F 62 62 missense 0.673 possibly damaging 0.01 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369298104 12q13.2 12 55716999A> G null N S 63 63 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed,gnomAD rs1270586164 12q13.2 12 55717002T> C null V A 64 64 missense 0.006 benign 0.65 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed,gnomAD rs1270586164 12q13.2 12 55717002T> G null V G 64 64 missense 0.007 benign 0.23 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1222953333 12q13.2 12 55717001G> T null V L 64 64 missense 0.012 benign 0.28 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs761382706 12q13.2 12 55717005G> T null G V 65 65 missense 0.251 benign 0.01 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed rs1417178673 12q13.2 12 55719098C> A null Q K 68 68 missense 0.062 benign 0.12 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) Ensembl rs751812047 12q13.2 12 55719101G> T null A S 69 69 missense 0.868 possibly damaging 0.01 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ESP,ExAC,gnomAD rs377155666 12q13.2 12 55719107A> G null M V 71 71 missense 0.0 benign 0.63 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs759262563 12q13.2 12 55719115G> T null Q H 73 73 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs914537904 12q13.2 12 55719117G> A null R K 74 74 missense 0.062 benign 1.0 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed rs1305717466 12q13.2 12 55719122C> A null L M 76 76 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs752243542 12q13.2 12 55719129A> G null H R 78 78 missense 0.138 benign 0.55 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed rs765033001 12q13.2 12 55719128C> T null H Y 78 78 missense 0.491 possibly damaging 0.1 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs758048845 12q13.2 12 55719137A> G null K E 81 81 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1256913211 12q13.2 12 55719150T> C null V A 85 85 missense 0.003 benign 0.94 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs750958417 12q13.2 12 55719159C> T null A V 88 88 missense 0.124 benign 0.1 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed rs1403202681 12q13.2 12 55719162A> C null Q P 89 89 missense 0.574 possibly damaging 0.03 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs756388521 12q13.2 12 55719171A> G null K R 92 92 missense 0.065 benign 0.11 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs756388521 12q13.2 12 55719171A> C null K T 92 92 missense 0.913 probably damaging 0.0 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1254700722 12q13.2 12 55719173C> A null Q K 93 93 missense 0.396 benign 0.05 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs532103455 12q13.2 12 55719176A> G null T A 94 94 2.0E-4 missense 0.944 probably damaging 0.07 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs532103455 12q13.2 12 55719176A> T null T S 94 94 2.0E-4 missense 0.616 possibly damaging 0.07 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1374987483 12q13.2 12 55719184G> C null Q H 96 96 missense 0.132 benign 0.01 deleterious 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs779161990 12q13.2 12 55719190C> G null I M 98 98 missense 0.526 possibly damaging 0.08 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs755202948 12q13.2 12 55719188A> G null I V 98 98 missense 0.079 benign 0.07 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369588426 12q13.2 12 55719191G> A null G R 99 99 missense 0.206 benign 0.12 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) TOPMed,gnomAD rs1471012449 12q13.2 12 55719192G> T null G V 99 99 missense 0.012 benign 0.11 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) Ensembl rs1565653152 12q13.2 12 55719208C> G null F L 104 104 missense 0.283 benign 0.12 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs772139870 12q13.2 12 55719214G> C null Q H 106 106 missense 0.071 benign 0.16 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) gnomAD rs1227501994 12q13.2 12 55719213A> G null Q R 106 106 missense 0.042 benign 0.16 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,TOPMed,gnomAD rs773076005 12q13.2 12 55719215G> T null A S 107 107 missense 0.873 possibly damaging 0.18 tolerated 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs754600338 12q13.2 12 55721703G> A null W * 114 114 missense 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs754600338 12q13.2 12 55721703G> C null W C 114 114 missense 0.883 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs753383717 12q13.2 12 55721701T> G null W G 114 114 missense 0.514 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV2 null Biogenesis of lysosome-related organelles complex 1 subunit 1 (Fragment) ExAC,gnomAD rs753383717 12q13.2 12 55721701T> C null W R 114 114 missense 0.788 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1380675830 10q11.22 10 45847334A> G null L P 5 5 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1343213926 10q11.22 10 45847326G> A null R C 8 8 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1347036003 10q11.22 10 45847325C> T null R H 8 8 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1347036003 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45847325C> A null R L 8 8 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1347036003 10q11.22 10 45847325C> G null R P 8 8 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1210760244 10q11.22 10 45847322A> G null V A 9 9 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1238950773 10q11.22 10 45847318G> C null H Q 10 10 missense 0.009 benign 0.36 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1185771591 10q11.22 10 45847316G> A null P L 11 11 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1484775070 10q11.22 10 45847317G> A null P S 11 11 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1248251534 10q11.22 10 45847314T> C null S G 12 12 missense 0.014 benign 0.07 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1191181589 10q11.22 10 45847311C> T null V I 13 13 missense 0.003 benign 0.04 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1177432177 10q11.22 10 45847302C> A null E * 16 16 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1177432177 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45847302C> T null E K 16 16 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1361206615 10q11.22 10 45847295T> A null D V 18 18 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554899664 10q11.22 10 45847290G> A null Q * 20 20 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1301281010 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45847280G> A null S L 23 23 missense 0.003 benign 0.17 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1280629766 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45847278C> A null V L 24 24 missense 0.001 benign 0.14 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1280629766 10q11.22 10 45847278C> T null V M 24 24 missense 0.034 benign 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1465936432 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45847271G> A null P L 26 26 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1268577066 10q11.22 10 45847272G> A null P S 26 26 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1211472320 10q11.22 10 45847269A> C null S A 27 27 missense 0.909 probably damaging 0.03 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs201317678 10q11.22 10 45847258C> G null E D 30 30 missense 0.158 benign 0.06 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1192486888 cosmic curated [Cosmic]: central_nervous_system pubmed:23441165,cosmic_study:474 10q11.22 10 45847256A> G null I T 31 31 missense 0.948 probably damaging 0.0 deleterious - low confidence 1 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1158861736 10q11.22 10 45847253T> C null Y C 32 32 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1427863777 10q11.22 10 45847254A> G null Y H 32 32 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1158861736 10q11.22 10 45847253T> G null Y S 32 32 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1458984228 10q11.22 10 45847245C> G null G R 35 35 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1458984228 10q11.22 10 45847245C> T null G R 35 35 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1349318556 10q11.22 10 45847244C> A null G V 35 35 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1437273568 10q11.22 10 45847242C> A null A S 36 36 missense 0.306 benign 0.04 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1276725823 10q11.22 10 45847241G> A null A V 36 36 missense 0.007 benign 0.34 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs200468982 10q11.22 10 45847238C> T null G E 37 37 missense 0.062 benign 0.05 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1371059894 10q11.22 10 45847239C> T null G R 37 37 missense 0.822 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1330954179 10q11.22 10 45847235T> C null D G 38 38 missense 0.991 probably damaging 0.04 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1288703413 10q11.22 10 45847236C> T null D N 38 38 missense 0.991 probably damaging 0.03 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1288686523 10q11.22 10 45847228C> T null M I 40 40 missense 0.009 benign 0.14 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1211370902 10q11.22 10 45847229A> G null M T 40 40 missense 0.036 benign 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1451892936 10q11.22 10 45847227C> T null A T 41 41 missense 0.829 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1223088663 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45847220G> A null A V 43 43 missense 0.003 benign 0.27 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1182134839 10q11.22 10 45847217G> A null P L 44 44 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1163306822 10q11.22 10 45847213C> A null M I 45 45 missense 0.015 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1473785630 10q11.22 10 45847214A> G null M T 45 45 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1413078518 10q11.22 10 45847215T> C null M V 45 45 missense 0.0 benign 0.32 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1413302538 10q11.22 10 45847212C> T null A T 46 46 missense 0.273 benign 0.03 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1406218320 10q11.22 10 45847211G> A null A V 46 46 missense 0.011 benign 0.09 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1352868436 10q11.22 10 45847209C> A null A S 47 47 missense 0.987 probably damaging 0.04 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1352868436 10q11.22 10 45847209C> T null A T 47 47 missense 0.991 probably damaging 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1308573916 10q11.22 10 45847198C> G null Q H 50 50 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1352320461 10q11.22 10 45847191C> T null E K 53 53 missense 0.085 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1283424938 10q11.22 10 45847182C> A null V F 56 56 missense 0.408 benign 0.11 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1356586075 10q11.22 10 45847172C> A null G V 59 59 missense 0.816 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554899624 10q11.22 10 45847170C> T null E K 60 60 missense 0.009 benign 0.04 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1205006411 10q11.22 10 45847165G> T null D E 61 61 missense 0.987 probably damaging 0.03 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1229700099 10q11.22 10 45847167C> T null D N 61 61 missense 0.991 probably damaging 0.07 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1270229567 10q11.22 10 45847166T> A null D V 61 61 missense 0.997 probably damaging 0.18 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554899617 10q11.22 10 45847157A> C null M R 64 64 missense 0.201 benign 0.2 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554899618 10q11.22 10 45847158T> C null M V 64 64 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs201098582 10q11.22 10 45847150G> C null H Q 66 66 missense 0.02 benign 0.05 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1484343898 10q11.22 10 45847152G> A null H Y 66 66 missense 0.453 possibly damaging 0.17 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1165225705 10q11.22 10 45847148A> C null V G 67 67 missense 0.226 benign 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1473223784 10q11.22 10 45847149C> T null V I 67 67 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1417393854 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45847146G> A null R C 68 68 missense 0.409 benign 0.23 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1429170916 10q11.22 10 45847145C> T null R H 68 68 missense 0.0 benign 0.81 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1412910612 cosmic curated [Cosmic]: central_nervous_system pubmed:23441165,cosmic_study:474 10q11.22 10 45847139C> T null R Q 70 70 missense 0.003 benign 0.16 tolerated - low confidence 1 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1372297990 10q11.22 10 45847140G> A null R W 70 70 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1340881514 10q11.22 10 45847135C> A null E D 71 71 missense 0.415 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554899606 10q11.22 10 45847128C> A null E * 74 74 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1449687582 10q11.22 10 45847126T> G null E D 74 74 missense 0.085 benign 0.03 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1455781309 10q11.22 10 45846737G> A null S F 81 81 missense 0.748 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1320159760 10q11.22 10 45846734G> C null A G 82 82 missense 0.107 benign 0.03 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554899525 10q11.22 10 45846722G> C null A G 86 86 missense 0.994 probably damaging 0.18 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1432975248 10q11.22 10 45846723C> A null A S 86 86 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1366797998 10q11.22 10 45846716G> A null T I 88 88 missense 0.603 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs201152637 10q11.22 10 45846709G> T null F L 90 90 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1227618713 10q11.22 10 45846704C> T null R K 92 92 missense 0.717 possibly damaging 0.06 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1268361647 10q11.22 10 45846699A> T null S T 94 94 missense 0.163 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1448408766 10q11.22 10 45846692G> A null T I 96 96 missense 0.167 benign 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1218711972 10q11.22 10 45846689T> C null D G 97 97 missense 0.306 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1416748522 10q11.22 10 45841687A> G null V A 98 98 missense 0.218 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1412131472 10q11.22 10 45841685C> T null V I 99 99 missense 0.001 benign 0.4 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1458202855 10q11.22 10 45841671T> G null R S 103 103 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1348486393 10q11.22 10 45841669C> A null S I 104 104 missense 0.086 benign 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1348486393 10q11.22 10 45841669C> T null S N 104 104 missense 0.117 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1408025855 10q11.22 10 45841656G> C null N K 108 108 missense 0.085 benign 0.15 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1240345024 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 10q11.22 10 45834112G> C null S C 111 111 missense 0.708 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1353640174 10q11.22 10 45834110T> C null T A 112 112 missense 0.107 benign 0.04 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1353640174 10q11.22 10 45834110T> A null T S 112 112 missense 0.107 benign 0.15 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1208784291 10q11.22 10 45834106A> T null V E 113 113 missense 0.0 benign 0.78 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1289763348 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45834104G> A null R C 114 114 missense 0.011 benign 0.03 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1452733813 10q11.22 10 45834103C> T null R H 114 114 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1216125635 10q11.22 10 45834097C> G null S T 116 116 missense 0.979 probably damaging 0.19 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1236670035 10q11.22 10 45834095G> C null Q E 117 117 missense 0.968 probably damaging 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1179492089 10q11.22 10 45834092G> T null Q K 118 118 missense 0.005 benign 0.11 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1162785645 10q11.22 10 45834087G> T null Y * 119 119 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1162785645 10q11.22 10 45834087G> C null Y * 119 119 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554897440 10q11.22 10 45834085C> T null S N 120 120 missense 0.205 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs201022774 10q11.22 10 45834082A> G null L S 121 121 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1462902685 10q11.22 10 45834076G> A null S L 123 123 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs200116047 10q11.22 10 45834073G> A null T I 124 124 missense 0.9 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1330458646 10q11.22 10 45834066G> T null F L 126 126 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554897430 10q11.22 10 45834065G> C null L V 127 127 missense 0.104 benign 0.02 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1338385797 10q11.22 10 45834061T> C null D G 128 128 missense 0.164 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1235610682 10q11.22 10 45834046A> C null I S 133 133 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1336326792 10q11.22 10 45834047T> C null I V 133 133 missense 0.006 benign 0.51 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1199723572 10q11.22 10 45834042C> A null Q H 134 134 missense 0.914 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1252895719 10q11.22 10 45834041G> C null H D 135 135 missense 0.014 benign 0.06 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1440872040 10q11.22 10 45834037T> C null Y C 136 136 missense 0.947 probably damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1187132126 10q11.22 10 45834028A> C null M R 139 139 missense 0.073 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1238064144 10q11.22 10 45834023T> C null I V 141 141 missense 0.009 benign 0.58 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1476228636 10q11.22 10 45834020T> A null I L 142 142 missense 0.351 benign 0.12 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1422901360 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45834016G> A null S F 143 143 missense 0.891 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1168437126 10q11.22 10 45834017A> G null S P 143 143 missense 0.775 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1207251009 10q11.22 10 45831427A> G null V A 144 144 missense 0.224 benign 0.06 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1343425535 10q11.22 10 45831428C> A null V L 144 144 missense 0.081 benign 0.13 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1254626151 10q11.22 10 45831409T> C null H R 150 150 missense 0.329 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554897117 10q11.22 10 45831406T> C null H R 151 151 missense 0.043 benign 0.24 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1245153599 10q11.22 10 45831402G> C null I M 152 152 missense 0.165 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1182632120 10q11.22 10 45831403A> C null I S 152 152 missense 0.189 benign 0.04 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1483162261 10q11.22 10 45831404T> C null I V 152 152 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1390865371 10q11.22 10 45831398G> A null Q * 154 154 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1390865371 10q11.22 10 45831398G> C null Q E 154 154 missense 0.0 benign 0.63 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1169356573 10q11.22 10 45828075G> C null A G 157 157 missense 0.255 benign 0.0 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1476515204 10q11.22 10 45828076C> T null A T 157 157 missense 0.342 benign 0.02 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1462982726 10q11.22 10 45828067A> T null S T 160 160 missense 0.2 benign 0.05 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1169984897 10q11.22 10 45828058T> C null I V 163 163 missense 0.001 benign 0.17 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1400452607 10q11.22 10 45828055G> C null P A 164 164 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1414589359 10q11.22 10 45828054G> A null P L 164 164 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1313647678 10q11.22 10 45828048T> C null E G 166 166 missense 0.124 benign 0.04 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1398218726 10q11.22 10 45828046G> A null Q * 167 167 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1326919392 10q11.22 10 45828036G> A null S L 170 170 missense 0.013 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1229580516 10q11.22 10 45828030G> A null A V 172 172 missense 0.03 benign 0.35 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1443266195 10q11.22 10 45827390C> T null V I 173 173 missense 0.133 benign 0.19 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1232768316 10q11.22 10 45827381C> T null V M 176 176 missense 0.045 benign 0.25 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1358470484 10q11.22 10 45827375T> C null I V 178 178 missense 0.976 probably damaging 0.11 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs75899554 10q11.22 10 45827371A> T null M K 179 179 missense 0.02 benign 0.25 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs75899554 10q11.22 10 45827371A> C null M R 179 179 missense 0.088 benign 0.18 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs75899554 10q11.22 10 45827371A> G null M T 179 179 missense 0.0 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1183850151 10q11.22 10 45827368T> C null K R 180 180 missense 0.108 benign 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896593 10q11.22 10 45827366T> A null K * 181 181 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs79639281 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45827364T> G null K N 181 181 missense 0.075 benign 0.2 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896589 10q11.22 10 45827359T> C null N S 183 183 missense 0.015 benign 0.25 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1188114991 10q11.22 10 45827356C> A null G V 184 184 missense 0.992 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1459932271 10q11.22 10 45827329G> C null S C 193 193 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1419203637 10q11.22 10 45827330A> T null S T 193 193 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1310025901 10q11.22 10 45827317G> A null S L 197 197 missense 0.014 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs797043358 10q11.22 10 45827318A> G null S P 197 197 missense 0.014 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1414243110 10q11.22 10 45827306T> G null T P 201 201 missense 0.943 probably damaging 0.07 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1294028074 10q11.22 10 45827300G> A null Q * 203 203 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1342173575 10q11.22 10 45827299T> C null Q R 203 203 missense 0.318 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1250724509 10q11.22 10 45827292G> T null D E 205 205 missense 0.205 benign 0.62 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1225093595 10q11.22 10 45827294C> A null D Y 205 205 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1339756896 10q11.22 10 45827281C> G null S T 209 209 missense 0.167 benign 0.15 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1277730226 10q11.22 10 45827279C> A null V F 210 210 missense 0.812 possibly damaging 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1485177305 10q11.22 10 45827273G> A null P S 212 212 missense 0.999 probably damaging 0.08 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1257717582 10q11.22 10 45827263T> C null N S 215 215 missense 0.297 benign 0.67 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1426241117 10q11.22 10 45827258G> C null P A 217 217 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1373025033 10q11.22 10 45827251G> T null P H 219 219 missense 0.902 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs879967164 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45827249C> T null V I 220 220 missense 0.007 benign 0.56 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896545 10q11.22 10 45827245C> A null C F 221 221 missense 0.111 benign 0.7 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1373837009 10q11.22 10 45827246A> C null C G 221 221 missense 0.104 benign 0.37 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1313743301 10q11.22 10 45827239C> T null R Q 223 223 missense 0.001 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1434393006 10q11.22 10 45827240G> A null R W 223 223 missense 0.001 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs782252245 10q11.22 10 45827234T> A null M L 225 225 missense 0.007 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1294691818 10q11.22 10 45827233A> G null M T 225 225 missense 0.02 benign 0.05 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs782252245 10q11.22 10 45827234T> C null M V 225 225 missense 0.0 benign 0.08 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1327009720 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45827231G> A null R C 226 226 missense 0.003 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896540 10q11.22 10 45827230C> T null R H 226 226 missense 0.001 benign 0.07 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1230326433 10q11.22 10 45827227C> G null W S 227 227 missense 0.765 possibly damaging 0.29 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1301028194 10q11.22 10 45827218A> T null L Q 230 230 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896535 10q11.22 10 45827212G> A null T I 232 232 missense 0.966 probably damaging 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1211095289 10q11.22 10 45827197C> A null S I 237 237 missense 0.597 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1257424939 10q11.22 10 45827195C> G null D H 238 238 missense 0.014 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1484569446 10q11.22 10 45827191G> A null P L 239 239 missense 0.933 probably damaging 0.14 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1465778476 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45827170G> A null P L 246 246 missense 0.003 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1465778476 10q11.22 10 45827170G> C null P R 246 246 missense 0.01 benign 0.53 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1393609600 10q11.22 10 45827166C> G null E D 247 247 missense 0.034 benign 0.55 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1176980322 10q11.22 10 45827155T> G null D A 251 251 missense 0.357 benign 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1451701565 10q11.22 10 45827150T> C null I V 253 253 missense 0.007 benign 0.25 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1288429752 10q11.22 10 45827147C> T null G R 254 254 missense 0.174 benign 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1323829387 10q11.22 10 45827141C> T null G S 256 256 missense 0.022 benign 0.08 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1234754855 10q11.22 10 45827132T> G null I L 259 259 missense 0.455 possibly damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1302939312 10q11.22 10 45827126T> A null I F 261 261 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1314833334 10q11.22 10 45827124A> C null I M 261 261 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1302939312 10q11.22 10 45827126T> C null I V 261 261 missense 0.976 probably damaging 0.18 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896500 10q11.22 10 45827122T> A null K I 262 262 missense 0.382 benign 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1237667364 10q11.22 10 45827116C> A null G V 264 264 missense 0.929 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1260855054 10q11.22 10 45827110A> G null L P 266 266 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1211084960 10q11.22 10 45827102G> A null R * 269 269 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1251690922 10q11.22 10 45827101C> T null R Q 269 269 missense 0.049 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896487 10q11.22 10 45827074T> C null K R 278 278 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1269735962 10q11.22 10 45827063C> T null V I 282 282 missense 0.853 possibly damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1158452593 10q11.22 10 45827059G> A null T I 283 283 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1412739217 10q11.22 10 45827057G> C null L V 284 284 missense 0.799 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1458916449 10q11.22 10 45827050G> A null S F 286 286 missense 0.807 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1436926798 10q11.22 10 45827042C> T null V M 289 289 missense 0.046 benign 0.24 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1295110141 10q11.22 10 45827039G> C null L V 290 290 missense 0.958 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1390409812 10q11.22 10 45827036T> C null T A 291 291 missense 0.034 benign 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1307297614 10q11.22 10 45827032T> C null Y C 292 292 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1230933717 10q11.22 10 45827014T> G null D A 298 298 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1230933717 10q11.22 10 45827014T> A null D V 298 298 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896470 10q11.22 10 45827011T> A null Y F 299 299 missense 0.684 possibly damaging 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1334843589 10q11.22 10 45826995A> C null H Q 304 304 missense 0.809 possibly damaging 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1222737847 10q11.22 10 45826993T> A null K I 305 305 missense 0.094 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1479877059 10q11.22 10 45826984A> G null I T 308 308 missense 0.227 benign 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896463 10q11.22 10 45826976G> A null Q * 311 311 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs4043116 10q11.22 10 45826975T> C null Q R 311 311 missense 0.0 benign 0.78 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs782423403 10q11.22 10 45826964T> C null I V 315 315 missense 0.058 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1473580645 10q11.22 10 45826960T> C null K R 316 316 missense 0.447 possibly damaging 0.08 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs782282685 10q11.22 10 45826957A> C null V G 317 317 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1417036426 10q11.22 10 45826948T> C null K R 320 320 missense 0.996 probably damaging 0.17 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1417036426 10q11.22 10 45826948T> G null K T 320 320 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896454 10q11.22 10 45826942G> A null P L 322 322 missense 0.027 benign 0.13 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782454112 10q11.22 10 45826943G> A null P S 322 322 missense 0.204 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782454112 10q11.22 10 45826943G> T null P T 322 322 missense 0.574 possibly damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1352501567 10q11.22 10 45826939G> C null S C 323 323 missense 0.694 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782232163 10q11.22 10 45826937G> C null L V 324 324 missense 0.66 possibly damaging 0.53 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1412385267 10q11.22 10 45826933G> C null A G 325 325 missense 0.997 probably damaging 0.05 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1412385267 10q11.22 10 45826933G> A null A V 325 325 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs532922509 10q11.22 10 45826927G> A null S L 327 327 0.009385 missense 0.003 benign 0.26 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782789379 10q11.22 10 45826925C> T null A T 328 328 missense 0.318 benign 0.12 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 Ensembl rs1564852021 10q11.22 10 45826921C> T null C Y 329 329 missense 0.013 benign 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs559818160 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45826919T> C null T A 330 330 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs781787145 10q11.22 10 45826913T> A null I F 332 332 missense 0.137 benign 0.23 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs781787145 10q11.22 10 45826913T> C null I V 332 332 missense 0.77 possibly damaging 0.55 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1275604925 10q11.22 10 45826909G> A null S F 333 333 missense 0.211 benign 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs4043112 10q11.22 10 45826906G> C null T S 334 334 missense 0.0 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1208789152 10q11.22 10 45826903G> C null S C 335 335 missense 0.969 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1256833731 10q11.22 10 45826901T> C null K E 336 336 missense 0.311 benign 0.16 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782733697 10q11.22 10 45826895T> C null N D 338 338 missense 0.423 benign 0.05 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373115594 10q11.22 10 45826891C> G null G A 339 339 0.002596 missense 0.961 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373115594 10q11.22 10 45826891C> T null G D 339 339 0.002596 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373115594 10q11.22 10 45826891C> A null G V 339 339 0.002596 missense 0.989 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782000367 10q11.22 10 45826885G> C null S C 341 341 missense 0.774 possibly damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782000367 10q11.22 10 45826885G> A null S F 341 341 missense 0.005 benign 0.11 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs140034862 10q11.22 10 45826882T> C null K R 342 342 missense 0.156 benign 0.17 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782169955 10q11.22 10 45826878G> T null D E 343 343 missense 0.204 benign 0.29 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs782020248 10q11.22 10 45826876A> G null M T 344 344 missense 0.006 benign 0.56 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896433 10q11.22 10 45826877T> C null M V 344 344 missense 0.003 benign 0.47 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1432537062 10q11.22 10 45826874C> T null D N 345 345 missense 0.027 benign 0.2 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782331564 10q11.22 10 45826871T> C null T A 346 346 missense 0.295 benign 0.15 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1359197553 10q11.22 10 45826870G> A null T I 346 346 missense 0.022 benign 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782331564 10q11.22 10 45826871T> G null T P 346 346 missense 0.013 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs781976923 10q11.22 10 45826868C> T null G R 347 347 missense 0.022 benign 0.15 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1286413321 10q11.22 10 45826865G> C null L V 348 348 missense 0.861 possibly damaging 0.17 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896428 10q11.22 10 45826861C> A null G V 349 349 missense 0.678 possibly damaging 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782236735 10q11.22 10 45826849C> T null C Y 353 353 missense 0.998 probably damaging 0.08 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896424 10q11.22 10 45826846A> C null F C 354 354 missense 0.006 benign 0.18 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1279882051 10q11.22 10 45826840G> C null P R 356 356 missense 0.856 possibly damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1232313602 10q11.22 10 45826841G> A null P S 356 356 missense 0.094 benign 0.23 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1443014550 10q11.22 10 45826836A> C null S R 357 357 missense 0.603 possibly damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1240276198 10q11.22 10 45826831G> C null S C 359 359 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1212402705 10q11.22 10 45826832A> T null S T 359 359 missense 0.99 probably damaging 0.09 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896417 10q11.22 10 45826822G> C null T S 362 362 missense 0.994 probably damaging 0.41 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782666549 10q11.22 10 45826820T> C null S G 363 363 missense 0.297 benign 0.07 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs200665580 10q11.22 10 45826819C> A null S I 363 363 missense 0.857 possibly damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1391736152 10q11.22 10 45826817G> C null P A 364 364 missense 0.523 possibly damaging 0.07 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1452378505 10q11.22 10 45826813T> G null K T 365 365 missense 0.998 probably damaging 0.07 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 Ensembl rs74803687 10q11.22 10 45826804G> A null P L 368 368 missense 0.023 benign 0.18 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1425449974 10q11.22 10 45826802G> A null P S 369 369 missense 0.635 possibly damaging 0.05 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1343925357 10q11.22 10 45826799G> C null P A 370 370 missense 0.375 benign 0.16 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896406 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45826798G> C null P R 370 370 missense 0.597 possibly damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1343925357 10q11.22 10 45826799G> T null P T 370 370 missense 0.057 benign 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1220982353 10q11.22 10 45826790G> C null H D 373 373 missense 0.995 probably damaging 0.11 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1282313249 10q11.22 10 45826783T> C null N S 375 375 missense 0.02 benign 0.15 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896401 10q11.22 10 45826772G> T null H N 379 379 missense 0.857 possibly damaging 0.1 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896401 10q11.22 10 45826772G> A null H Y 379 379 missense 0.925 probably damaging 0.05 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1316440233 10q11.22 10 45826762T> C null K R 382 382 missense 0.919 probably damaging 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1209238085 10q11.22 10 45826756C> T null S N 384 384 missense 0.009 benign 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896395 10q11.22 10 45826753G> A null T I 385 385 missense 0.966 probably damaging 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1249827250 10q11.22 10 45826747T> C null N S 387 387 missense 0.157 benign 0.12 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1192839114 10q11.22 10 45826740C> T null M I 389 389 missense 0.0 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1466927633 10q11.22 10 45826741A> T null M K 389 389 missense 0.118 benign 0.07 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896389 10q11.22 10 45826733A> C null S A 392 392 missense 0.401 benign 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 Ensembl rs1554896388 10q11.22 10 45826726G> C null T S 394 394 missense 0.799 possibly damaging 0.13 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1246923527 10q11.22 10 45826723C> G null G A 395 395 missense 0.893 possibly damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1156466920 10q11.22 10 45826721G> A null Q * 396 396 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1406555810 10q11.22 10 45826719T> G null Q H 396 396 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1156466920 10q11.22 10 45826721G> T null Q K 396 396 missense 0.605 possibly damaging 0.33 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1457313396 10q11.22 10 45826717G> A null T M 397 397 missense 0.045 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1457313396 10q11.22 10 45826717G> C null T R 397 397 missense 0.547 possibly damaging 0.13 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1391541478 10q11.22 10 45826714C> T null W * 398 398 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1439147461 10q11.22 10 45826713C> T null W * 398 398 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1323353635 10q11.22 10 45826711T> G null H P 399 399 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896379 10q11.22 10 45826705T> G null E A 401 401 missense 0.423 benign 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1331881692 10q11.22 10 45826700T> C null T A 403 403 missense 0.204 benign 0.34 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1438821705 10q11.22 10 45826699G> A null T M 403 403 missense 0.038 benign 0.1 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs529544363 10q11.22 10 45826697T> C null T A 404 404 3.99E-4 missense 0.297 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896369 10q11.22 10 45826696G> A null T M 404 404 missense 0.14 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 Ensembl rs1554896362 10q11.22 10 45826687T> C null E G 407 407 missense 0.318 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1332671749 10q11.22 10 45826685G> C null R G 408 408 missense 0.446 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1290265434 10q11.22 10 45826684C> A null R L 408 408 missense 0.362 benign 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1290265434 10q11.22 10 45826684C> T null R Q 408 408 missense 0.015 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1332671749 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45826685G> A null R W 408 408 missense 0.009 benign 0.05 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1453143406 10q11.22 10 45826682C> T null D N 409 409 missense 0.818 possibly damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896352 10q11.22 10 45826668T> G null Q H 413 413 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1231966916 10q11.22 10 45826669T> G null Q P 413 413 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896351 10q11.22 10 45826667C> T null A T 414 414 missense 0.014 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1472623861 10q11.22 10 45826664T> C null I V 415 415 missense 0.542 possibly damaging 0.14 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896347 10q11.22 10 45826653C> A null Q H 418 418 missense 0.857 possibly damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896348 10q11.22 10 45826654T> C null Q R 418 418 missense 0.019 benign 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782791788 10q11.22 10 45826652T> G null I L 419 419 missense 0.976 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782791788 10q11.22 10 45826652T> C null I V 419 419 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1414789275 10q11.22 10 45826649G> C null L V 420 420 missense 0.031 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs782800246 10q11.22 10 45826627T> C null E G 427 427 missense 0.29 benign 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs150602632 10q11.22 10 45826628C> T null E K 427 427 missense 0.009 benign 0.15 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1391861863 10q11.22 10 45826624C> T null S N 428 428 missense 0.893 possibly damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1407444839 10q11.22 10 45826622T> C null S G 429 429 missense 0.429 benign 0.17 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs781927586 10q11.22 10 45826621C> A null S I 429 429 missense 0.882 possibly damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs781927586 10q11.22 10 45826621C> T null S N 429 429 missense 0.447 possibly damaging 0.09 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896332 10q11.22 10 45826616T> C null S G 431 431 missense 0.297 benign 0.19 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs782089047 10q11.22 10 45826610A> G null S P 433 433 missense 0.528 possibly damaging 0.31 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ExAC,gnomAD rs562346427 10q11.22 10 45826605C> G null Q H 434 434 2.0E-4 missense 0.532 possibly damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896320 10q11.22 10 45826603A> G null L P 435 435 missense 0.999 probably damaging 0.05 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896317 10q11.22 10 45826600G> T null T N 436 436 missense 0.533 possibly damaging 0.61 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896318 10q11.22 10 45826601T> A null T S 436 436 missense 0.279 benign 0.85 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ESP,ExAC,TOPMed,gnomAD rs142875478 10q11.22 10 45826597C> T null S N 437 437 missense 0.061 benign 0.19 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1243924348 10q11.22 10 45826595G> A null Q * 438 438 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1284714145 10q11.22 10 45826594T> C null Q R 438 438 missense 0.99 probably damaging 0.07 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896314 10q11.22 10 45826590G> T null S R 439 439 missense 0.019 benign 0.1 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs879947525 10q11.22 10 45826589T> A null K * 440 440 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs879947525 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23917401,cosmic_study:552 10q11.22 10 45826589T> C null K E 440 440 missense 0.0 benign 1.0 tolerated 1 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896312 10q11.22 10 45826588T> C null K R 440 440 missense 0.068 benign 0.08 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC rs782307981 10q11.22 10 45826585G> A null A V 441 441 missense 0.997 probably damaging 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs782229777 10q11.22 10 45826582A> G null M T 442 442 missense 0.721 possibly damaging 0.1 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782598354 10q11.22 10 45826580C> A null A S 443 443 missense 0.447 possibly damaging 0.12 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782598354 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45826580C> T null A T 443 443 missense 0.023 benign 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs782392263 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45826579G> A null A V 443 443 missense 0.023 benign 0.05 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896303 10q11.22 10 45826574G> A null Q * 445 445 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896302 10q11.22 10 45826573T> C null Q R 445 445 missense 0.99 probably damaging 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896301 10q11.22 10 45826571A> C null S A 446 446 missense 0.99 probably damaging 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs782241076 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45826570G> A null S L 446 446 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148544608 10q11.22 10 45826564T> A null Q L 448 448 0.001198 missense 0.117 benign 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148544608 10q11.22 10 45826564T> C null Q R 448 448 0.001198 missense 0.003 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs781808772 10q11.22 10 45826559T> C null M V 450 450 missense 0.003 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782573277 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45826556G> A null R C 451 451 missense 0.003 benign 0.08 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782491379 10q11.22 10 45826555C> T null R H 451 451 missense 0.006 benign 0.05 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1369567031 10q11.22 10 45826550T> G null N H 453 453 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs781833677 10q11.22 10 45826547C> T null A T 454 454 missense 0.072 benign 0.07 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1166588178 10q11.22 10 45826540C> T null C Y 456 456 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ExAC,gnomAD rs576130780 10q11.22 10 45826532A> G null C R 459 459 7.99E-4 missense 0.958 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1430699847 10q11.22 10 45826525G> A null T I 461 461 missense 0.212 benign 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1310121077 10q11.22 10 45826522T> C null Q R 462 462 missense 0.005 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896287 10q11.22 10 45826516G> C null P R 464 464 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1373639802 10q11.22 10 45826510C> A null W L 466 466 missense 0.393 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1395538397 10q11.22 10 45826507G> A null A V 467 467 missense 0.886 possibly damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896285 10q11.22 10 45826505T> C null S G 468 468 missense 0.375 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896283 10q11.22 10 45826498T> A null N I 470 470 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896280 10q11.22 10 45826470G> C null C W 479 479 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1224925669 10q11.22 10 45826471C> T null C Y 479 479 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1342633079 10q11.22 10 45826463T> C null I V 482 482 missense 0.976 probably damaging 0.13 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1277760805 10q11.22 10 45826459T> C null H R 483 483 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896275 10q11.22 10 45826460G> A null H Y 483 483 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs200463969 10q11.22 10 45826457G> A null R C 484 484 missense 0.015 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs202104169 10q11.22 10 45826456C> T null R H 484 484 missense 0.015 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1187042801 10q11.22 10 45826454T> C null S G 485 485 missense 0.167 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs781969562 10q11.22 10 45826451G> C null L V 486 486 missense 0.539 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1389887807 10q11.22 10 45826448C> A null G C 487 487 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1450484576 10q11.22 10 45826447C> T null G D 487 487 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs200703393 10q11.22 10 45826444G> T null T N 488 488 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1170654608 10q11.22 10 45826442G> A null R C 489 489 missense 0.857 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,TOPMed,gnomAD rs545806986 10q11.22 10 45826441C> T null R H 489 489 0.003195 missense 0.003 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1173273101 10q11.22 10 45826433G> A null R C 492 492 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs201179318 10q11.22 10 45826432C> T null R H 492 492 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1319848894 10q11.22 10 45826430C> T null V M 493 493 missense 0.861 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs201261369 10q11.22 10 45826427G> A null R * 494 494 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs201261369 10q11.22 10 45826427G> C null R G 494 494 missense 0.688 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs200375185 10q11.22 10 45826426C> T null R Q 494 494 missense 0.031 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1311319307 10q11.22 10 45826423G> T null S Y 495 495 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1233303790 10q11.22 10 45826403G> C null P A 502 502 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1247965676 10q11.22 10 45826388T> C null K E 507 507 missense 0.057 benign 0.56 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1465617759 10q11.22 10 45826385C> A null V F 508 508 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1190978427 10q11.22 10 45826380C> T null M I 509 509 missense 0.068 benign 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1265492305 10q11.22 10 45826379A> G null S P 510 510 missense 0.781 possibly damaging 0.05 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896240 10q11.22 10 45826373T> C null I V 512 512 missense 0.023 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1177078866 10q11.22 10 45826370C> T null G S 513 513 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1379401308 10q11.22 10 45826367T> C null N D 514 514 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1455719579 10q11.22 10 45826366T> C null N S 514 514 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs202219577 10q11.22 10 45826362G> C null D E 515 515 missense 0.007 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1158263128 10q11.22 10 45826364C> T null D N 515 515 missense 0.477 possibly damaging 0.16 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1458615724 10q11.22 10 45826360A> G null L P 516 516 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1323694543 10q11.22 10 45826358C> T null A T 517 517 missense 0.97 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1386943060 10q11.22 10 45826347G> C null I M 520 520 missense 0.617 possibly damaging 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1333417946 10q11.22 10 45826344C> T null W * 521 521 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1302997157 10q11.22 10 45826346A> C null W G 521 521 missense 0.555 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896225 10q11.22 10 45826343C> T null E K 522 522 missense 0.442 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1330471801 10q11.22 10 45826336C> T null S N 524 524 missense 0.993 probably damaging 0.77 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896220 10q11.22 10 45826335G> T null S R 524 524 missense 0.997 probably damaging 0.26 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1191924934 10q11.22 10 45826327C> T null G E 527 527 missense 0.983 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1263994554 10q11.22 10 45826328C> T null G R 527 527 missense 0.624 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1263994554 10q11.22 10 45826328C> G null G R 527 527 missense 0.624 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1191924934 10q11.22 10 45826327C> A null G V 527 527 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1471646354 10q11.22 10 45826325G> A null Q * 528 528 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 Ensembl rs373299289 10q11.22 10 45826324T> C null Q R 528 528 missense 0.001 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1181640154 10q11.22 10 45826319T> C null K E 530 530 missense 0.799 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896215 10q11.22 10 45826315G> A null P L 531 531 missense 0.878 possibly damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs17151504 10q11.22 10 45826313A> T null S T 532 532 missense 0.45 possibly damaging 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs879953237 10q11.22 10 45826310C> T null E K 533 533 missense 0.0 benign 0.08 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs200353759 10q11.22 10 45826309T> A null E V 533 533 missense 0.0 benign 0.47 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1458231449 10q11.22 10 45826306T> A null K M 534 534 missense 0.575 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1294908497 10q11.22 10 45826305C> G null K N 534 534 missense 0.046 benign 0.22 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1393966472 10q11.22 10 45826303G> T null S Y 535 535 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs76023144 10q11.22 10 45826300G> A null T M 536 536 missense 0.885 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1351817678 10q11.22 10 45826296C> A null R S 537 537 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1311210030 10q11.22 10 45826285T> A null E V 541 541 missense 0.742 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs200837157 10q11.22 10 45826282C> T null R Q 542 542 missense 0.033 benign 0.16 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1321441213 10q11.22 10 45826283G> A null R W 542 542 missense 0.003 benign 0.21 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896201 10q11.22 10 45826278C> A null W C 543 543 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1267457144 10q11.22 10 45826279C> A null W L 543 543 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896198 10q11.22 10 45826277T> C null I V 544 544 missense 0.109 benign 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1482221451 10q11.22 10 45826274G> A null R C 545 545 missense 0.006 benign 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1484096310 10q11.22 10 45826273C> T null R H 545 545 missense 0.003 benign 0.09 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1484096310 10q11.22 10 45826273C> A null R L 545 545 missense 0.185 benign 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1484096310 10q11.22 10 45826273C> G null R P 545 545 missense 0.68 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1179980674 10q11.22 10 45826267T> C null K R 547 547 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs879956570 10q11.22 10 45826259C> T null E K 550 550 missense 0.0 benign 0.08 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1387911677 10q11.22 10 45826256T> C null K E 551 551 missense 0.775 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1428646434 10q11.22 10 45826255T> A null K M 551 551 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1308290050 10q11.22 10 45826248A> C null F L 553 553 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896186 10q11.22 10 45826243G> A null A V 555 555 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1301596078 10q11.22 10 45826240G> A null P L 556 556 missense 0.933 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1301596078 10q11.22 10 45826240G> T null P Q 556 556 missense 0.967 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1445197447 10q11.22 10 45826241G> A null P S 556 556 missense 0.332 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1229220870 10q11.22 10 45826238G> T null L I 557 557 missense 0.221 benign 0.09 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1229220870 10q11.22 10 45826238G> C null L V 557 557 missense 0.021 benign 0.08 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896181 10q11.22 10 45826235G> A null P S 558 558 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1340509995 10q11.22 10 45826232A> G null C R 559 559 missense 0.499 possibly damaging 0.17 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1275629786 10q11.22 10 45826224C> A null E D 561 561 missense 0.034 benign 0.65 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896179 10q11.22 10 45826219G> A null S F 563 563 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1208189780 10q11.22 10 45826206C> G null Q H 567 567 missense 0.0 benign 0.48 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1183546174 10q11.22 10 45826198C> T null R Q 570 570 missense 0.001 benign 0.45 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1483564807 10q11.22 10 45826199G> A null R W 570 570 missense 0.001 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1245915887 10q11.22 10 45826196C> A null A S 571 571 missense 0.136 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1448646477 10q11.22 10 45826192G> A null T I 572 572 missense 0.966 probably damaging 0.2 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1391699556 10q11.22 10 45826190C> A null A S 573 573 missense 0.323 benign 0.21 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1391699556 10q11.22 10 45826190C> T null A T 573 573 missense 0.012 benign 0.45 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1412259565 10q11.22 10 45826187C> A null D Y 574 574 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1339305174 10q11.22 10 45826174T> A null Q L 578 578 missense 0.029 benign 0.07 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1339305174 10q11.22 10 45826174T> C null Q R 578 578 missense 0.0 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896154 10q11.22 10 45826165A> T null I N 581 581 missense 0.898 possibly damaging 0.09 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1363388273 10q11.22 10 45826166T> C null I V 581 581 missense 0.019 benign 0.74 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1298600899 10q11.22 10 45826144G> A null S F 588 588 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1341780357 10q11.22 10 45826141C> T null R H 589 589 missense 0.686 possibly damaging 0.15 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1212064167 10q11.22 10 45826134C> A null E D 591 591 missense 0.994 probably damaging 0.45 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1312876054 10q11.22 10 45826135T> C null E G 591 591 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1277942584 10q11.22 10 45826136C> T null E K 591 591 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1266177464 10q11.22 10 45826132A> T null V E 592 592 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1464265385 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45826129T> C null N S 593 593 missense 0.911 probably damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896130 10q11.22 10 45826120C> T null C Y 596 596 missense 0.91 probably damaging 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1190295944 10q11.22 10 45826118C> G null G R 597 597 missense 0.971 probably damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1190295944 10q11.22 10 45826118C> A null G W 597 597 missense 0.165 benign 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs781789106 10q11.22 10 45826107G> C null D E 600 600 missense 0.844 possibly damaging 0.09 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs781789106 10q11.22 10 45826107G> T null D E 600 600 missense 0.844 possibly damaging 0.09 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1415689460 10q11.22 10 45826109C> T null D N 600 600 missense 0.894 possibly damaging 0.01 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1321702525 10q11.22 10 45826106C> T null G S 601 601 missense 0.062 benign 0.39 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1328583035 10q11.22 10 45826100T> C null T A 603 603 missense 0.311 benign 0.08 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1434527263 10q11.22 10 45826099G> T null T K 603 603 missense 0.061 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1434527263 10q11.22 10 45826099G> A null T M 603 603 missense 0.148 benign 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1328583035 10q11.22 10 45826100T> A null T S 603 603 missense 0.39 benign 0.29 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1368321606 10q11.22 10 45826096G> A null A V 604 604 missense 0.014 benign 0.19 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1209103950 10q11.22 10 45826090T> C null H R 606 606 missense 0.995 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs200049550 10q11.22 10 45826079G> A null R C 610 610 missense 0.009 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1220288089 10q11.22 10 45826078C> T null R H 610 610 missense 0.015 benign 0.11 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1220288089 10q11.22 10 45826078C> A null R L 610 610 missense 0.271 benign 0.21 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1246941076 10q11.22 10 45826073C> G null G R 612 612 missense 0.753 possibly damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1410368038 10q11.22 10 45826070T> C null N D 613 613 missense 0.996 probably damaging 0.25 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1410368038 10q11.22 10 45826070T> A null N Y 613 613 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1472522243 10q11.22 10 45826057G> A null A V 617 617 missense 0.014 benign 0.32 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896109 10q11.22 10 45826055G> A null Q * 618 618 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1387506784 10q11.22 10 45826052G> A null L F 619 619 missense 0.065 benign 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1323124394 10q11.22 10 45826044G> C null I M 621 621 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1350756633 10q11.22 10 45826041C> A null W C 622 622 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1349979816 10q11.22 10 45826037C> G null G R 624 624 missense 0.234 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1349979816 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45826037C> T null G R 624 624 missense 0.234 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1228890186 10q11.22 10 45826034C> T null V M 625 625 missense 0.223 benign 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1281217496 10q11.22 10 45826028C> G null V L 627 627 missense 0.245 benign 0.1 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1353924923 10q11.22 10 45826022C> T null A T 629 629 missense 0.023 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1227592532 10q11.22 10 45826019G> A null R * 630 630 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1290106805 10q11.22 10 45826018C> A null R L 630 630 missense 0.103 benign 0.54 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1290106805 10q11.22 10 45826018C> T null R Q 630 630 missense 0.211 benign 0.15 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1490752191 10q11.22 10 45826012G> A null A V 632 632 missense 0.533 possibly damaging 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1202615735 10q11.22 10 45826009T> A null H L 633 633 missense 0.818 possibly damaging 0.27 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1483097729 10q11.22 10 45826007C> T null G R 634 634 missense 0.087 benign 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1366113559 10q11.22 10 45826004T> A null N Y 635 635 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1163083723 10q11.22 10 45825997G> A null A V 637 637 missense 0.037 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs782597673 10q11.22 10 45825991G> A null T I 639 639 missense 0.079 benign 0.38 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs782597673 10q11.22 10 45825991G> T null T N 639 639 missense 0.203 benign 0.29 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1426735974 10q11.22 10 45825988T> A null Y F 640 640 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782607737 10q11.22 10 45825982C> T null R Q 642 642 missense 0.012 benign 0.12 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs572373777 10q11.22 10 45825983G> A null R W 642 642 2.0E-4 missense 0.007 benign 0.03 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782528359 10q11.22 10 45825980G> A null Q * 643 643 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1338700637 10q11.22 10 45825969G> C null S R 646 646 missense 0.098 benign 0.04 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1243765280 10q11.22 10 45825968G> A null Q * 647 647 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs201101765 10q11.22 10 45825958A> G null I T 650 650 missense 0.995 probably damaging 0.42 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs782660572 10q11.22 10 45825956T> G null N H 651 651 missense 0.632 possibly damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376906135 10q11.22 10 45825953C> T null V M 652 652 3.99E-4 missense 0.817 possibly damaging 0.12 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs782755079 10q11.22 10 45825944G> A null Q * 655 655 stop gained 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1197102702 10q11.22 10 45825943T> G null Q P 655 655 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782077911 10q11.22 10 45825940T> G null Y S 656 656 missense 0.998 probably damaging 0.19 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143658188 10q11.22 10 45825938C> G null G R 657 657 2.0E-4 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143658188 10q11.22 10 45825938C> T null G S 657 657 2.0E-4 missense 0.1 benign 0.06 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1244090357 10q11.22 10 45825934C> T null C Y 658 658 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782709984 10q11.22 10 45825927G> C null D E 660 660 missense 0.223 benign 0.1 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782021394 10q11.22 10 45825929C> T null D N 660 660 missense 0.014 benign 0.36 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs782021394 10q11.22 10 45825929C> A null D Y 660 660 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed,gnomAD rs1169771928 10q11.22 10 45825926T> C null K E 661 661 missense 0.0 benign 1.0 tolerated 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,TOPMed,gnomAD rs781973053 10q11.22 10 45825924C> A null K N 661 661 missense 0.001 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 1000Genomes,ExAC,gnomAD rs555606083 10q11.22 10 45825925T> C null K R 661 661 0.002995 missense 0.0 benign 0.0 deleterious 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs199976568 10q11.22 10 45825922C> A null C F 662 662 missense 0.368 benign 0.2 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1395341971 10q11.22 10 45825923A> G null C R 662 662 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,gnomAD rs199976568 10q11.22 10 45825922C> T null C Y 662 662 missense 0.115 benign 0.11 tolerated - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 TOPMed rs1334750320 10q11.22 10 45825919A> G null V A 663 663 missense 0.237 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 ExAC,NCI-TCGA,gnomAD rs782270678 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q11.22 10 45825920C> G null V L 663 663 missense 0.058 benign 0.01 deleterious - low confidence 0 A0A087WSV4 AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 gnomAD rs1554896048 10q11.22 10 45825917A> G null * Q 664 664 stop lost 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs776700799 19q13.42 19 54631078C> A null T N 2 2 missense 0.17 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs759448568 19q13.42 19 54631081C> T null P L 3 3 missense 0.018 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1249280320 19q13.42 19 54631080C> T null P S 3 3 missense 0.381 benign 0.21 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs765258791 19q13.42 19 54631083A> T null I F 4 4 missense 0.66 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148624633 19q13.42 19 54631085C> G null I M 4 4 0.01637 missense 0.8 possibly damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764282215 19q13.42 19 54631086C> T null L F 5 5 missense 0.477 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764282215 19q13.42 19 54631086C> G null L V 5 5 missense 0.105 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs370113006 19q13.42 19 54631090C> T null T M 6 6 missense 0.024 benign 0.2 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1248248167 19q13.42 19 54631093T> C null V A 7 7 missense 0.055 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1188237094 19q13.42 19 54631098A> G null I V 9 9 missense 0.012 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs756594142 19q13.42 19 54631104C> T null L F 11 11 missense 0.085 benign 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377722573 19q13.42 19 54631107G> A null G R 12 12 missense 0.867 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377722573 19q13.42 19 54631107G> C null G R 12 12 missense 0.867 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs768738272 19q13.42 19 54631276A> C null S R 14 14 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1160643643 19q13.42 19 54631279C> A null L M 15 15 missense 0.972 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1454942964 19q13.42 19 54631283G> A null G D 16 16 missense 0.046 benign 0.17 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs774367726 19q13.42 19 54631282G> A null G S 16 16 missense 0.575 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568580118 19q13.42 19 54631286C> T null P L 17 17 missense 0.012 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761087323 19q13.42 19 54631289G> A null R Q 18 18 missense 0.934 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1985501 19q13.42 19 54631288C> T null R W 18 18 0.4507 missense 0.976 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs374390409 19q13.42 19 54631292C> T null T I 19 19 missense 0.093 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs374390409 19q13.42 19 54631292C> A null T N 19 19 missense 0.099 benign 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1437755442 19q13.42 19 54631295A> C null H P 20 20 missense 0.786 possibly damaging 0.4 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs531874051 19q13.42 19 54631296C> A null H Q 20 20 2.0E-4 missense 0.151 benign 0.57 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs751084910 19q13.42 19 54631294C> T null H Y 20 20 missense 0.786 possibly damaging 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs745718480 19q13.42 19 54631297G> A null V M 21 21 missense 0.887 possibly damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1022852989 19q13.42 19 54631300C> T null Q * 22 22 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs369012428 19q13.42 19 54631303G> A null A T 23 23 missense 0.076 benign 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs201209520 19q13.42 19 54631500G> A null G E 24 24 missense 0.309 benign 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs201209520 19q13.42 19 54631500G> T null G V 24 24 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1012230566 19q13.42 19 54631502C> A null H N 25 25 missense 0.0 benign 0.1 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754762871 19q13.42 19 54631503A> C null H P 25 25 missense 0.0 benign 0.28 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs201224544 19q13.42 19 54631506T> A null L H 26 26 0.002995 missense 0.691 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1468324134 19q13.42 19 54631505C> A null L I 26 26 missense 0.018 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1408054632 cosmic curated [Cosmic]: kidney cosmic_study:416 19q13.42 19 54631509C> T null P L 27 27 missense 0.045 benign 0.04 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1169581517 19q13.42 19 54631514C> T null P S 29 29 missense 0.681 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs752639881 19q13.42 19 54631518C> T null T I 30 30 missense 0.037 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs777936405 19q13.42 19 54631520C> T null L F 31 31 missense 0.217 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1465593352 19q13.42 19 54631523T> G null W G 32 32 missense 0.434 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1431749536 19q13.42 19 54631524G> T null W L 32 32 missense 0.062 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1360242225 19q13.42 19 54631533C> T null P L 35 35 missense 0.955 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs537456486 19q13.42 19 54631541G> C null V L 38 38 2.0E-4 missense 0.044 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs369505745 19q13.42 19 54631546C> G null I M 39 39 missense 0.984 probably damaging 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1235413641 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631548C> T null T I 40 40 missense 0.005 benign 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1294644614 19q13.42 19 54631554G> C null G A 42 42 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1202378889 19q13.42 19 54631553G> A null G R 42 42 missense 0.99 probably damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1243499019 19q13.42 19 54631563T> G null V G 45 45 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs763587287 19q13.42 19 54631562G> C null V L 45 45 missense 0.062 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs988504832 19q13.42 19 54631566C> A null T N 46 46 missense 0.799 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs560174182 19q13.42 19 54631572G> A null R K 48 48 missense 0.19 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs760088995 19q13.42 19 54631573G> T null R S 48 48 missense 0.065 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1401373541 19q13.42 19 54631580G> A null G R 51 51 missense 0.943 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1401373541 19q13.42 19 54631580G> T null G W 51 51 missense 0.997 probably damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs554096090 19q13.42 19 54631583G> T null G C 52 52 0.001198 missense 0.439 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs574518086 19q13.42 19 54631584G> A null G D 52 52 7.99E-4 missense 0.001 benign 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs554096090 19q13.42 19 54631583G> A null G S 52 52 0.001198 missense 0.0 benign 0.41 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs574518086 19q13.42 19 54631584G> T null G V 52 52 7.99E-4 missense 0.038 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199588814 cosmic curated [Cosmic]: liver pubmed:23788652,cosmic_study:527 19q13.42 19 54631587A> T null Q L 53 53 0.001198 missense 0.0 benign 1.0 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1181433469 19q13.42 19 54631589G> T null E * 54 54 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs369122618 19q13.42 19 54631593C> T null T I 55 55 missense 0.061 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1228963223 19q13.42 19 54631595C> G null Q E 56 56 missense 0.005 benign 0.38 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs770103380 19q13.42 19 54631596A> T null Q L 56 56 missense 0.014 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs780608164 19q13.42 19 54631598G> A null E K 57 57 missense 0.347 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs766976525 19q13.42 19 54631603C> A null Y * 58 58 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1312623561 19q13.42 19 54631601T> G null Y D 58 58 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed rs749592435 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:21798893,cosmic_study:349 19q13.42 19 54631604C> T null R C 59 59 missense 0.017 benign 0.15 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed rs749592435 19q13.42 19 54631604C> G null R G 59 59 missense 0.368 benign 0.24 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs774715846 cosmic curated [Cosmic]: central_nervous_system, [Cosmic]: liver cosmic_study:323,cosmic_study:329 19q13.42 19 54631605G> A null R H 59 59 missense 0.003 benign 1.0 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1490796848 19q13.42 19 54631611A> G null Y C 61 61 missense 0.062 benign 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1298120204 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19q13.42 19 54631610T> C null Y H 61 61 missense 0.062 benign 0.52 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1428524822 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54631616G> T null E * 63 63 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1428524822 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631616G> A null E K 63 63 missense 0.342 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1443680673 19q13.42 19 54631622A> G null K E 65 65 missense 0.006 benign 0.26 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1160393646 19q13.42 19 54631625A> G null T A 66 66 missense 0.009 benign 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377752824 19q13.42 19 54631631C> G null P A 68 68 missense 0.0 benign 0.15 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1061679 19q13.42 19 54631632C> T null P L 68 68 0.4683 missense 0.0 benign 0.39 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1061679 19q13.42 19 54631632C> G null P R 68 68 0.4683 missense 0.003 benign 0.1 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377752824 19q13.42 19 54631631C> T null P S 68 68 missense 0.0 benign 0.42 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1221500068 cosmic curated [Cosmic]: NS pubmed:24265154,cosmic_study:526 19q13.42 19 54631636G> A null W * 69 69 missense 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs202132279 19q13.42 19 54631644G> A null R Q 72 72 0.004792 missense 0.006 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs148931844 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631643C> T null R W 72 72 0.001997 missense 0.007 benign 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1442231717 19q13.42 19 54631646A> G null I V 73 73 missense 0.003 benign 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1430305373 19q13.42 19 54631649C> T null P S 74 74 missense 0.025 benign 0.12 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1334117870 19q13.42 19 54631656A> G null E G 76 76 missense 0.022 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs750501464 19q13.42 19 54631658C> A null L I 77 77 missense 0.044 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1411015384 19q13.42 19 54631659T> C null L P 77 77 missense 0.034 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1301782177 19q13.42 19 54631662T> C null V A 78 78 missense 0.096 benign 0.53 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1405170135 19q13.42 19 54631666G> C null K N 79 79 missense 0.024 benign 0.98 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs780408011 19q13.42 19 54631665A> G null K R 79 79 missense 0.342 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1361252862 19q13.42 19 54631669G> C null K N 80 80 missense 0.059 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1361252862 19q13.42 19 54631669G> T null K N 80 80 missense 0.059 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376666548 19q13.42 19 54631670G> A null G S 81 81 missense 0.805 possibly damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779278315 19q13.42 19 54631673C> T null Q * 82 82 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779278315 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.42 19 54631673C> A null Q K 82 82 missense 0.0 benign 1.0 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1033290343 19q13.42 19 54631676T> C null F L 83 83 missense 0.974 probably damaging 0.1 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs748620787 19q13.42 19 54631677T> A null F Y 83 83 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs200880414 19q13.42 19 54631686C> T null P L 86 86 7.99E-4 missense 0.012 benign 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1009999647 19q13.42 19 54631689C> G null S C 87 87 missense 0.794 possibly damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1211926269 19q13.42 19 54631692T> A null I N 88 88 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs745357082 19q13.42 19 54631695C> T null T I 89 89 missense 0.24 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs769506618 19q13.42 19 54631702A> T null E D 91 91 missense 0.003 benign 0.67 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes rs34880987 19q13.42 19 54631705_54631706in v null T A 93 93 missense 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12460501 19q13.42 19 54631706A> G null T A 93 93 0.2139 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs533376327 19q13.42 19 54631710G> C null G A 94 94 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs533376327 19q13.42 19 54631710G> A null G E 94 94 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs533376327 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19q13.42 19 54631710G> T null G V 94 94 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs200251602 19q13.42 19 54631713G> T null R L 95 95 missense 0.015 benign 0.1 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs200251602 19q13.42 19 54631713G> A null R Q 95 95 missense 0.009 benign 0.29 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147024305 cosmic curated [Cosmic]: large_intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23103869,cosmic_study:328,cosmic_study:376,cosmic_study:436 19q13.42 19 54631712C> T null R W 95 95 0.001198 missense 0.05 benign 0.03 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs756256653 19q13.42 19 54631717T> A null Y * 96 96 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1387488915 19q13.42 19 54631716A> G null Y C 96 96 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs766498638 19q13.42 19 54631718C> T null R C 97 97 missense 0.087 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs377161343 19q13.42 19 54631719G> A null R H 97 97 missense 0.017 benign 0.37 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs766498638 19q13.42 19 54631718C> A null R S 97 97 missense 0.271 benign 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs755174365 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631722G> A null C Y 98 98 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs535742370 19q13.42 19 54631725A> T null Y F 99 99 2.0E-4 missense 0.003 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs570016342 19q13.42 19 54631724T> A null Y N 99 99 2.0E-4 missense 0.006 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs778250190 19q13.42 19 54631728A> G null Y C 100 100 missense 0.966 probably damaging 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs769310682 19q13.42 19 54631731G> A null G D 101 101 missense 0.838 possibly damaging 0.18 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs769310682 19q13.42 19 54631731G> T null G V 101 101 missense 0.876 possibly damaging 0.46 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1261319330 19q13.42 19 54631737A> G null D G 103 103 missense 0.024 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61738512 19q13.42 19 54631736G> C null D H 103 103 0.02576 missense 0.0 benign 0.33 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61738512 19q13.42 19 54631736G> A null D N 103 103 0.02576 missense 0.017 benign 0.15 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1219223217 19q13.42 19 54631739A> G null T A 104 104 missense 0.0 benign 0.15 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568583987 19q13.42 19 54631743C> T null A V 105 105 missense 0.026 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138410838 19q13.42 19 54631748C> T null R C 107 107 0.02156 missense 0.745 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142396802 19q13.42 19 54631749G> A null R H 107 107 3.99E-4 missense 0.397 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142396802 19q13.42 19 54631749G> T null R L 107 107 3.99E-4 missense 0.003 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142396802 19q13.42 19 54631749G> C null R P 107 107 3.99E-4 missense 0.553 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs796403577 19q13.42 19 54631748_54631750delinsTG G null R W 107 107 missense 0.001 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs753911415 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631752C> T null S L 108 108 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs995920823 19q13.42 19 54631754G> A null E K 109 109 missense 0.837 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs796659773 19q13.42 19 54631757_54631758delinsC C null S P 110 110 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs10418552 19q13.42 19 54631757A> C null S R 110 110 0.02156 missense 0.011 benign 0.59 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs10419085 19q13.42 19 54631758G> C null S T 110 110 0.02156 missense 0.019 benign 0.24 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1268303356 19q13.42 19 54631760A> C null S R 111 111 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs753059498 19q13.42 19 54631765C> A null D E 112 112 missense 0.025 benign 0.1 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1466416376 cosmic curated [Cosmic]: kidney pubmed:23797736,cosmic_study:494 19q13.42 19 54631767C> T null P L 113 113 missense 0.337 benign 0.02 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs778057754 19q13.42 19 54631770T> G null L R 114 114 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200993507 19q13.42 19 54631769C> G null L V 114 114 2.0E-4 missense 0.165 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1213270401 19q13.42 19 54631779T> G null V G 117 117 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs779471633 19q13.42 19 54631781G> A null V M 118 118 missense 0.212 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs763207069 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631935G> A null G E 120 120 missense 0.932 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376585715 19q13.42 19 54631937G> C null A P 121 121 missense 0.825 possibly damaging 0.24 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376585715 19q13.42 19 54631937G> A null A T 121 121 missense 0.057 benign 0.38 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1439779889 19q13.42 19 54631938C> T null A V 121 121 missense 0.006 benign 0.7 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370374304 19q13.42 19 54631944T> G null I S 123 123 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1377577066 19q13.42 19 54631943A> G null I V 123 123 missense 0.003 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1379338136 19q13.42 19 54631946A> G null K E 124 124 missense 0.02 benign 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1435294615 19q13.42 19 54631947A> G null K R 124 124 missense 0.046 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1187615791 19q13.42 19 54631962C> T null A V 129 129 missense 0.985 probably damaging 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs767704704 19q13.42 19 54631965A> T null Q L 130 130 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs767704704 19q13.42 19 54631965A> G null Q R 130 130 missense 0.099 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC rs756525565 19q13.42 19 54631970A> G null S G 132 132 missense 0.052 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764867290 19q13.42 19 54631976G> A null V M 134 134 missense 0.388 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs752223327 19q13.42 19 54631980T> C null V A 135 135 missense 0.813 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs752223327 19q13.42 19 54631980T> A null V E 135 135 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1248499851 19q13.42 19 54631984C> A null N K 136 136 missense 0.039 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs758173207 19q13.42 19 54631983A> C null N T 136 136 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1394392929 19q13.42 19 54631991G> A null G R 139 139 missense 0.074 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1394392929 19q13.42 19 54631991G> T null G W 139 139 missense 0.116 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs746865460 19q13.42 19 54631994A> G null N D 140 140 missense 0.255 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs199829008 19q13.42 19 54631996T> G null N K 140 140 missense 0.338 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1205770341 19q13.42 19 54631995A> G null N S 140 140 missense 0.006 benign 0.15 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1061680 19q13.42 19 54632001C> T null T I 142 142 0.4373 missense 0.384 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs539532545 19q13.42 19 54632003C> T null L F 143 143 2.0E-4 missense 0.858 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs539532545 19q13.42 19 54632003C> A null L I 143 143 2.0E-4 missense 0.114 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs749360531 19q13.42 19 54632008G> T null Q H 144 144 missense 0.49 possibly damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1411342426 19q13.42 19 54632009T> C null C R 145 145 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761880977 19q13.42 19 54632014C> G null D E 146 146 missense 0.001 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1184877741 19q13.42 19 54632012G> C null D H 146 146 missense 0.808 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs774563445 19q13.42 19 54632013A> T null D V 146 146 missense 0.01 benign 0.27 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1356240489 19q13.42 19 54632018C> G null Q E 148 148 missense 0.096 benign 0.37 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1202173279 19q13.42 19 54632022T> C null V A 149 149 missense 0.018 benign 0.75 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1464083982 19q13.42 19 54632021G> C null V L 149 149 missense 0.001 benign 0.54 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1464083982 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632021G> A null V M 149 149 missense 0.361 benign 0.19 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1308708047 19q13.42 19 54632027T> C null F L 151 151 missense 0.069 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1482014567 19q13.42 19 54632028T> C null F S 151 151 missense 0.948 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1061681 19q13.42 19 54632040T> G null I S 155 155 0.4501 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs773404829 19q13.42 19 54632042C> G null L V 156 156 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes rs183166312 19q13.42 19 54632045T> C null C R 157 157 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1343986533 19q13.42 19 54632046G> C null C S 157 157 missense 0.886 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761279862 19q13.42 19 54632051G> A null E K 159 159 missense 0.434 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs866926837 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632055G> A null G E 160 160 missense 0.25 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1218608063 19q13.42 19 54632059A> C null E D 161 161 missense 0.02 benign 0.46 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1242868995 19q13.42 19 54632057G> A null E K 161 161 missense 0.729 possibly damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs766969859 19q13.42 19 54632062T> G null D E 162 162 missense 0.005 benign 0.3 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs766969859 19q13.42 19 54632062T> A null D E 162 162 missense 0.005 benign 0.3 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1256864565 19q13.42 19 54632061A> G null D G 162 162 missense 0.754 possibly damaging 0.13 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1256864565 19q13.42 19 54632061A> T null D V 162 162 missense 0.777 possibly damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2781773 19q13.42 19 54632064A> C null E A 163 163 5.99E-4 missense 0.45 possibly damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1235386947 19q13.42 19 54632068C> A null H Q 164 164 missense 0.107 benign 0.29 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs763628392 19q13.42 19 54632072C> G null Q E 166 166 missense 0.254 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1430810348 19q13.42 19 54632073A> G null Q R 166 166 missense 0.015 benign 0.52 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs528992461 19q13.42 19 54632075T> C null C R 167 167 3.99E-4 missense 0.003 benign 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs370899308 19q13.42 19 54632076G> A null C Y 167 167 missense 0.547 possibly damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1457091342 19q13.42 19 54632079T> A null L Q 168 168 missense 0.95 probably damaging 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs750167334 19q13.42 19 54632085C> T null S F 170 170 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1471294100 19q13.42 19 54632087C> T null Q * 171 171 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs749158954 19q13.42 19 54632089G> T null Q H 171 171 missense 0.011 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779965443 19q13.42 19 54632088A> G null Q R 171 171 missense 0.582 possibly damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs768734027 19q13.42 19 54632090C> T null P S 172 172 missense 0.0 benign 0.47 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs768734027 19q13.42 19 54632090C> A null P T 172 172 missense 0.026 benign 0.45 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs772148886 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632097C> G null A G 174 174 missense 0.069 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs772148886 19q13.42 19 54632097C> T null A V 174 174 missense 0.021 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs187892686 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632099C> T null R C 175 175 2.0E-4 missense 0.826 possibly damaging 0.13 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs112916853 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:376,cosmic_study:416 19q13.42 19 54632100G> A null R H 175 175 missense 0.003 benign 0.53 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs112916853 cosmic curated [Cosmic]: lung cosmic_study:583 19q13.42 19 54632100G> C null R P 175 175 missense 0.734 possibly damaging 0.18 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs777279738 19q13.42 19 54632103G> A null G E 176 176 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs760073992 19q13.42 19 54632106C> T null S L 177 177 missense 0.009 benign 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1216109414 19q13.42 19 54632108T> C null S P 178 178 missense 0.072 benign 0.2 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761576024 cosmic curated [Cosmic]: pancreas pubmed:24293293,cosmic_study:529 19q13.42 19 54632111C> T null R C 179 179 missense 0.813 possibly damaging 0.0 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs201729705 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632112G> A null R H 179 179 missense 0.007 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs201729705 19q13.42 19 54632112G> C null R P 179 179 missense 0.717 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs750303692 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632114G> A null A T 180 180 missense 0.988 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779769226 cosmic curated [Cosmic]: pancreas pubmed:24293293,cosmic_study:529 19q13.42 19 54632118T> A null I N 181 181 missense 0.752 possibly damaging 0.0 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs755910748 19q13.42 19 54632117A> G null I V 181 181 missense 0.0 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs754867178 19q13.42 19 54632121T> G null F C 182 182 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376597507 19q13.42 19 54632126G> T null V L 184 184 missense 0.787 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376597507 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632126G> A null V M 184 184 missense 0.913 probably damaging 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs777852964 19q13.42 19 54632129G> T null G C 185 185 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1435007627 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632133C> T null P L 186 186 missense 0.861 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs41308134 19q13.42 19 54632136T> G null V G 187 187 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs529461921 19q13.42 19 54632135G> C null V L 187 187 2.0E-4 missense 0.307 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs529461921 19q13.42 19 54632135G> A null V M 187 187 2.0E-4 missense 0.58 possibly damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1463646594 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632139G> T null S I 188 188 missense 0.932 probably damaging 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,NCI-TCGA,gnomAD rs367841149 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19q13.42 19 54632142C> T null P L 189 189 missense 0.316 benign 0.02 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,TOPMed rs371604379 19q13.42 19 54632144A> G null S G 190 190 missense 0.075 benign 0.18 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761228916 19q13.42 19 54632145G> A null S N 190 190 missense 0.037 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs766988590 19q13.42 19 54632147C> T null R C 191 191 missense 0.019 benign 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs543166769 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 19q13.42 19 54632148G> A null R H 191 191 2.0E-4 missense 0.005 benign 1.0 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs760269341 19q13.42 19 54632155G> A null W * 193 193 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1490812359 19q13.42 19 54632154G> A null W * 193 193 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs373103118 19q13.42 19 54632158G> A null W * 194 194 2.0E-4 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1032919797 19q13.42 19 54632156T> C null W R 194 194 missense 0.0 benign 0.19 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs559801888 19q13.42 19 54632157G> C null W S 194 194 2.0E-4 missense 0.0 benign 0.2 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754953785 19q13.42 19 54632159T> C null Y H 195 195 missense 0.347 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1235784006 19q13.42 19 54632163G> A null R K 196 196 missense 0.917 probably damaging 0.05 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs752888395 19q13.42 19 54632172C> G null A G 199 199 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1164583552 19q13.42 19 54632171G> C null A P 199 199 missense 0.263 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs200423268 19q13.42 19 54632181C> T null S L 202 202 5.99E-4 missense 0.019 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747268004 19q13.42 19 54632183A> C null N H 203 203 missense 0.001 benign 0.26 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs757523245 19q13.42 19 54632184A> G null N S 203 203 missense 0.0 benign 0.32 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs781724159 19q13.42 19 54632186T> G null S A 204 204 missense 0.005 benign 0.24 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs746221743 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 19q13.42 19 54632190C> T null P L 205 205 missense 0.254 benign 0.01 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs570444682 19q13.42 19 54632193A> G null Y C 206 206 2.0E-4 missense 0.934 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1277118926 19q13.42 19 54632197G> T null E D 207 207 missense 0.054 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs775869419 19q13.42 19 54632196A> T null E V 207 207 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs200859502 19q13.42 19 54632205T> C null L P 210 210 missense 0.597 possibly damaging 0.34 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1289068184 19q13.42 19 54632213G> C null D H 213 213 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1466298709 19q13.42 19 54632216C> T null L F 214 214 missense 0.812 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1236486035 19q13.42 19 54632224G> C null E D 216 216 missense 0.83 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1306047163 19q13.42 19 54632223A> G null E G 216 216 missense 0.454 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs771507072 19q13.42 19 54632222G> A null E K 216 216 missense 0.915 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182861371 19q13.42 19 54632235T> C null L P 220 220 0.00639 missense 0.0 benign 0.56 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1403936703 19q13.42 19 54632466G> A null V I 222 222 missense 0.971 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1333224029 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632470C> T null S F 223 223 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1393974881 19q13.42 19 54632469T> C null S P 223 223 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs762849912 19q13.42 19 54632473A> G null K R 224 224 missense 0.065 benign 0.92 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1442330289 19q13.42 19 54632488C> T null S L 229 229 missense 0.159 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs761992207 19q13.42 19 54632494A> G null Q R 231 231 missense 0.559 possibly damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC rs532970501 19q13.42 19 54632496C> G null P A 232 232 2.0E-4 missense 0.782 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs549753788 19q13.42 19 54632499G> C null G R 233 233 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1262856890 19q13.42 19 54632503C> T null P L 234 234 missense 0.596 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs780318750 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22622578,cosmic_study:388 19q13.42 19 54632502C> T null P S 234 234 missense 0.444 benign 0.13 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737863 19q13.42 19 54632507C> G null I M 235 235 0.01158 missense 0.075 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs185055407 19q13.42 19 54632508G> A null V M 236 236 2.0E-4 missense 0.392 benign 0.1 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs901288729 19q13.42 19 54632518A> T null E V 239 239 missense 0.009 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs770441281 19q13.42 19 54632524C> T null T I 241 241 missense 0.0 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1464226587 19q13.42 19 54632533T> C null L P 244 244 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1467835208 19q13.42 19 54632532C> G null L V 244 244 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1424884804 19q13.42 19 54632535C> T null Q * 245 245 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs201906215 19q13.42 19 54632537G> T null Q H 245 245 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1193945064 19q13.42 19 54632536A> G null Q R 245 245 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1245719769 19q13.42 19 54632541G> A null G S 247 247 missense 0.913 probably damaging 0.41 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1401611427 19q13.42 19 54632542G> T null G V 247 247 missense 0.105 benign 0.54 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1421289928 19q13.42 19 54632545C> T null S F 248 248 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs370658036 19q13.42 19 54632547G> C null D H 249 249 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs768499296 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632551C> T null A V 250 250 missense 0.013 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs767740163 19q13.42 19 54632554G> A null G D 251 251 missense 0.779 possibly damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs767740163 19q13.42 19 54632554G> T null G V 251 251 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs750497325 19q13.42 19 54632557A> C null Y S 252 252 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs766606336 19q13.42 19 54632559A> G null N D 253 253 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs755374354 19q13.42 19 54632561C> A null N K 253 253 missense 0.096 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs754219465 19q13.42 19 54632560A> G null N S 253 253 missense 0.096 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs779190673 19q13.42 19 54632562A> T null R * 254 254 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1490646874 19q13.42 19 54632563G> A null R K 254 254 missense 0.474 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1268823400 19q13.42 19 54632569T> C null V A 256 256 missense 0.003 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs758861113 19q13.42 19 54632572T> C null L P 257 257 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1373493546 19q13.42 19 54632577A> G null K E 259 259 missense 0.067 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1421234523 19q13.42 19 54632579G> C null K N 259 259 missense 0.76 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed rs367942404 19q13.42 19 54632578A> C null K T 259 259 missense 0.76 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs371764929 19q13.42 19 54632582C> G null D E 260 260 missense 0.001 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1156582673 19q13.42 19 54632580G> A null D N 260 260 missense 0.131 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs534491699 19q13.42 19 54632583G> A null G R 261 261 2.0E-4 missense 0.366 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs774250400 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 19q13.42 19 54632589C> T null R C 263 263 missense 0.021 benign 0.1 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374212814 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632590G> A null R H 263 263 2.0E-4 missense 0.021 benign 0.37 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs368723007 19q13.42 19 54632594C> A null D E 264 264 missense 0.046 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1332430359 19q13.42 19 54632592G> A null D N 264 264 missense 0.031 benign 0.05 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1238294608 19q13.42 19 54632605T> G null L R 268 268 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372558482 19q13.42 19 54632607G> C null A P 269 269 missense 0.0 benign 0.9 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372558482 19q13.42 19 54632607G> A null A T 269 269 missense 0.065 benign 0.37 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1272764880 19q13.42 19 54632614C> G null A G 271 271 missense 0.054 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,TOPMed,gnomAD rs201049465 19q13.42 19 54632613G> C null A P 271 271 3.99E-4 missense 0.005 benign 0.12 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,TOPMed,gnomAD rs201049465 19q13.42 19 54632613G> T null A S 271 271 3.99E-4 missense 0.07 benign 0.1 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,NCI-TCGA,TOPMed,gnomAD rs201049465 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632613G> A null A T 271 271 3.99E-4 missense 0.09 benign 0.13 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,TOPMed rs375561323 19q13.42 19 54632616C> T null Q * 272 272 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs200156251 19q13.42 19 54632619C> A null P T 273 273 missense 0.607 possibly damaging 0.24 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs200156251 19q13.42 19 54632619C> T null P S 273 273 missense 0.477 possibly damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP rs371891126 19q13.42 19 54632622C> T null Q * 274 274 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs779387221 19q13.42 19 54632623A> T null Q L 274 274 missense 0.979 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs61737881 19q13.42 19 54632626C> G null A G 275 275 missense 0.156 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs778897447 19q13.42 19 54632629G> C null G A 276 276 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754649306 19q13.42 19 54632628G> A null G R 276 276 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1417026356 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632631C> T null L F 277 277 missense 0.991 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs556935946 19q13.42 19 54632632T> C null L P 277 277 2.0E-4 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1366669678 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632640G> A null A T 280 280 missense 0.072 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs746862799 19q13.42 19 54632645C> A null N K 281 281 missense 0.037 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737891 19q13.42 19 54632649A> G null T A 283 283 0.01917 missense 0.02 benign 0.05 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs536737454 19q13.42 19 54632656G> A null G D 285 285 2.0E-4 missense 0.207 benign 0.22 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs759793070 19q13.42 19 54632655G> A null G S 285 285 missense 0.233 benign 0.22 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs775901137 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632659C> T null P L 286 286 missense 0.299 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs763313978 19q13.42 19 54632666C> G null S R 288 288 missense 0.028 benign 0.35 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764308584 19q13.42 19 54632667C> T null R C 289 289 missense 0.828 possibly damaging 0.13 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764308584 19q13.42 19 54632667C> G null R G 289 289 missense 0.006 benign 0.51 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs553317698 19q13.42 19 54632668G> A null R H 289 289 2.0E-4 missense 0.013 benign 0.49 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs553317698 19q13.42 19 54632668G> T null R L 289 289 2.0E-4 missense 0.313 benign 0.49 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs553317698 19q13.42 19 54632668G> C null R P 289 289 2.0E-4 missense 0.013 benign 0.38 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1258130893 19q13.42 19 54632670T> C null S P 290 290 missense 0.073 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs573403931 19q13.42 19 54632674A> G null Y C 291 291 3.99E-4 missense 0.819 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs753379737 19q13.42 19 54632673T> C null Y H 291 291 missense 0.003 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1183360601 19q13.42 19 54632676G> A null G R 292 292 missense 0.321 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747733651 19q13.42 19 54632679G> T null G C 293 293 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747733651 19q13.42 19 54632679G> C null G R 293 293 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747733651 19q13.42 19 54632679G> A null G S 293 293 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs758277771 19q13.42 19 54632680G> T null G V 293 293 missense 0.888 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200461258 19q13.42 19 54632687C> G null Y * 295 295 5.99E-4 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs575961556 19q13.42 19 54632689G> C null R T 296 296 2.0E-4 missense 0.664 possibly damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1170190158 19q13.42 19 54632691T> C null C R 297 297 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs563262541 19q13.42 19 54632695A> G null Y C 298 298 3.99E-4 missense 0.059 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs745944888 19q13.42 19 54632694T> C null Y H 298 298 missense 0.828 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs563262541 19q13.42 19 54632695A> C null Y S 298 298 3.99E-4 missense 0.026 benign 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376895100 19q13.42 19 54632697G> A null G S 299 299 missense 0.453 possibly damaging 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs762435989 19q13.42 19 54632701C> T null A V 300 300 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1167093429 19q13.42 19 54632704A> C null H P 301 301 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed rs1045818 19q13.42 19 54632703C> T null H Y 301 301 9.98E-4 missense 0.073 benign 0.36 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs753461421 19q13.42 19 54632706A> C null N H 302 302 missense 0.952 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764779534 19q13.42 19 54632708C> A null N K 302 302 missense 0.275 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs759119993 19q13.42 19 54632707A> G null N S 302 302 missense 0.121 benign 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs753461421 19q13.42 19 54632706A> T null N Y 302 302 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs757946719 19q13.42 19 54632709C> G null L V 303 303 missense 0.149 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,gnomAD rs369922489 19q13.42 19 54632713C> T null S F 304 304 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs757286779 19q13.42 19 54632715T> C null S P 305 305 missense 0.071 benign 0.05 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192288587 19q13.42 19 54632718G> A null E K 306 306 0.002396 missense 0.049 benign 0.13 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs528298461 19q13.42 19 54632723G> A null W * 307 307 2.0E-4 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs528298461 19q13.42 19 54632723G> C null W C 307 307 2.0E-4 missense 0.315 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs528298461 19q13.42 19 54632723G> T null W C 307 307 2.0E-4 missense 0.315 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1476853617 19q13.42 19 54632721T> A null W R 307 307 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs375583070 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54632725C> A null S * 308 308 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs375583070 19q13.42 19 54632725C> T null S L 308 308 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737895 19q13.42 19 54632728C> A null A D 309 309 0.005391 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737895 19q13.42 19 54632728C> T null A V 309 309 0.005391 missense 0.577 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1358880327 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.42 19 54632733A> G null S G 311 311 missense 0.999 probably damaging 0.01 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs272423 19q13.42 19 54632735C> A null S R 311 311 0.4063 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367770060 19q13.42 19 54632736G> A null D N 312 312 2.0E-4 missense 0.538 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1399977325 19q13.42 19 54632740C> T null P L 313 313 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1339065375 19q13.42 19 54632739C> T null P S 313 313 missense 0.474 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs773866222 19q13.42 19 54632742C> G null L V 314 314 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs934158944 19q13.42 19 54632746A> G null D G 315 315 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761211353 19q13.42 19 54632745G> A null D N 315 315 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1049917138 19q13.42 19 54632751C> G null L V 317 317 missense 0.919 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737955 19q13.42 19 54632756C> G null I M 318 318 0.02276 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372158181 19q13.42 19 54632755T> A null I N 318 318 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs201552016 19q13.42 19 54632757G> A null A T 319 319 missense 0.015 benign 0.44 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1391832602 19q13.42 19 54632758C> T null A V 319 319 missense 0.341 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs758661325 19q13.42 19 54633016G> C null G A 320 320 missense 0.72 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs751157447 19q13.42 19 54632760G> A null G R 320 320 missense 0.238 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs184520604 19q13.42 19 54633020G> T null Q H 321 321 2.0E-4 missense 0.037 benign 0.25 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747364263 19q13.42 19 54633021T> A null F I 322 322 missense 0.0 benign 0.31 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1346206297 19q13.42 19 54633025A> G null Y C 323 323 missense 0.649 possibly damaging 0.05 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1343744228 19q13.42 19 54633024T> C null Y H 323 323 missense 0.0 benign 0.21 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372382780 19q13.42 19 54633028A> C null D A 324 324 missense 0.001 benign 0.46 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372382780 19q13.42 19 54633028A> G null D G 324 324 missense 0.005 benign 0.22 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs771632370 19q13.42 19 54633027G> A null D N 324 324 missense 0.139 benign 0.12 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372382780 19q13.42 19 54633028A> T null D V 324 324 missense 0.007 benign 0.26 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs746338335 19q13.42 19 54633031G> A null R K 325 325 missense 0.138 benign 0.32 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs768084929 19q13.42 19 54633032A> C null R S 325 325 missense 0.037 benign 0.3 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs746338335 19q13.42 19 54633031G> C null R T 325 325 missense 0.007 benign 0.96 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1486166961 19q13.42 19 54633034T> C null V A 326 326 missense 0.061 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1185911260 19q13.42 19 54633033G> C null V L 326 326 missense 0.061 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs974205214 19q13.42 19 54633037C> T null S F 327 327 missense 0.007 benign 0.14 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377129222 19q13.42 19 54633039C> T null L F 328 328 missense 0.771 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377129222 19q13.42 19 54633039C> A null L I 328 328 missense 0.046 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs761425151 19q13.42 19 54633042T> G null S A 329 329 missense 0.077 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377585616 19q13.42 19 54633043C> T null S L 329 329 missense 0.049 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200440541 19q13.42 19 54633050G> T null Q H 331 331 5.99E-4 missense 0.059 benign 0.13 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1334566399 19q13.42 19 54633049A> C null Q P 331 331 missense 0.921 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1334566399 19q13.42 19 54633049A> G null Q R 331 331 missense 0.041 benign 0.18 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs367559880 19q13.42 19 54633052C> T null P L 332 332 missense 0.95 probably damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs201421803 19q13.42 19 54633054G> T null G C 333 333 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1256286472 19q13.42 19 54633060A> G null T A 335 335 missense 0.615 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374617117 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633061C> T null T M 335 335 missense 0.397 benign 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs368581275 19q13.42 19 54633066G> T null A S 337 337 missense 0.17 benign 0.23 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs368581275 19q13.42 19 54633066G> A null A T 337 337 missense 0.275 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs372002933 19q13.42 19 54633067C> T null A V 337 337 missense 0.045 benign 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76710074 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.42 19 54633070C> T null S L 338 338 0.003395 missense 0.363 benign 0.05 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs753430663 19q13.42 19 54633073G> A null G E 339 339 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs201120319 19q13.42 19 54633080C> G null N K 341 341 missense 0.192 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747657206 19q13.42 19 54633081G> C null V L 342 342 missense 0.192 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747657206 19q13.42 19 54633081G> A null V M 342 342 missense 0.515 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs771508284 19q13.42 19 54633085C> T null T I 343 343 missense 0.668 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1341024211 19q13.42 19 54633095T> G null C W 346 346 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1231993235 19q13.42 19 54633094G> A null C Y 346 346 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1355268400 19q13.42 19 54633096C> G null Q E 347 347 missense 0.72 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs776452488 19q13.42 19 54633104G> C null Q H 349 349 missense 0.754 possibly damaging 0.14 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs776452488 19q13.42 19 54633104G> T null Q H 349 349 missense 0.754 possibly damaging 0.14 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739173 19q13.42 19 54633105G> A null G R 350 350 0.09844 missense 0.018 benign 0.28 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs763129874 19q13.42 19 54633110G> A null W * 351 351 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs765206177 19q13.42 19 54633108T> G null W G 351 351 missense 0.0 benign 0.55 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs765206177 19q13.42 19 54633108T> A null W R 351 351 missense 0.003 benign 0.79 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs765206177 19q13.42 19 54633108T> C null W R 351 351 missense 0.003 benign 0.79 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764221410 19q13.42 19 54633116A> C null Q H 353 353 missense 0.0 benign 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1307197770 19q13.42 19 54633117A> G null T A 354 354 missense 0.045 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs751863308 19q13.42 19 54633118C> G null T S 354 354 missense 0.615 possibly damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1215162310 19q13.42 19 54633130C> T null T I 358 358 missense 0.169 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs201531812 19q13.42 19 54633129A> T null T S 358 358 missense 0.387 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1215162310 19q13.42 19 54633130C> G null T S 358 358 missense 0.387 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs12985925 19q13.42 19 54633136A> C null E A 360 360 missense 0.028 benign 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs750788865 19q13.42 19 54633139G> A null G E 361 361 missense 0.888 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs572931166 19q13.42 19 54633141G> A null A T 362 362 2.0E-4 missense 0.29 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1379026792 19q13.42 19 54633144G> C null A P 363 363 missense 0.989 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1476862925 19q13.42 19 54633145C> T null A V 363 363 missense 0.584 possibly damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs12985933 19q13.42 19 54633151A> C null D A 365 365 missense 0.0 benign 0.22 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1260040283 19q13.42 19 54633150G> T null D Y 365 365 missense 0.091 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs371963428 19q13.42 19 54633153C> T null P S 366 366 missense 0.777 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1305939141 19q13.42 19 54633157G> T null W L 367 367 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201608570 19q13.42 19 54633156T> A null W R 367 367 3.99E-4 missense 0.003 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201608570 19q13.42 19 54633156T> C null W R 367 367 3.99E-4 missense 0.003 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs746700906 19q13.42 19 54633159C> T null R C 368 368 missense 0.013 benign 0.1 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376255659 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633160G> A null R H 368 368 2.0E-4 missense 0.007 benign 0.28 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376255659 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633160G> T null R L 368 368 2.0E-4 missense 0.313 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568594877 19q13.42 19 54633162C> G null L V 369 369 missense 0.309 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1401913528 19q13.42 19 54633166G> A null R K 370 370 missense 0.003 benign 0.26 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739171 19q13.42 19 54633172C> A null T K 372 372 0.01897 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739171 19q13.42 19 54633172C> T null T M 372 372 0.01897 missense 0.01 benign 0.05 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739171 19q13.42 19 54633172C> G null T R 372 372 0.01897 missense 0.017 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1363005174 19q13.42 19 54633175A> G null Y C 373 373 missense 0.012 benign 0.12 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs762944615 19q13.42 19 54633174T> C null Y H 373 373 missense 0.001 benign 0.59 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1478686108 19q13.42 19 54633177C> T null Q * 374 374 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs764311342 19q13.42 19 54633179A> C null Q H 374 374 missense 0.694 possibly damaging 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1233930006 19q13.42 19 54633178A> C null Q P 374 374 missense 0.522 possibly damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs866511691 19q13.42 19 54633181C> G null S C 375 375 missense 0.834 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs866511691 19q13.42 19 54633181C> T null S F 375 375 missense 0.029 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1419871422 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633183C> G null Q E 376 376 missense 0.062 benign 0.31 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1240220003 19q13.42 19 54633185A> T null Q H 376 376 missense 0.0 benign 0.61 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs751669782 19q13.42 19 54633191C> A null Y * 378 378 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1468046183 19q13.42 19 54633192C> T null Q * 379 379 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs761188332 19q13.42 19 54633196C> T null A V 380 380 missense 0.985 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1349039558 19q13.42 19 54633205C> G null P R 383 383 missense 0.105 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs764825355 19q13.42 19 54633204C> T null P S 383 383 missense 0.047 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1437035232 19q13.42 19 54633207A> G null M V 384 384 missense 0.02 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372567136 19q13.42 19 54633210G> C null G R 385 385 missense 0.125 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372567136 19q13.42 19 54633210G> A null G S 385 385 missense 0.005 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs756518809 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633225G> A null A T 390 390 missense 0.275 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs752441704 19q13.42 19 54633226C> T null A V 390 390 missense 0.162 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1371072914 19q13.42 19 54633228C> T null H Y 391 391 missense 0.139 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754370096 19q13.42 19 54633231G> T null A S 392 392 missense 0.127 benign 0.32 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377750177 19q13.42 19 54633232C> T null A V 392 392 2.0E-4 missense 0.031 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs374192029 19q13.42 19 54633235G> T null G V 393 393 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568595566 19q13.42 19 54633234G> T null G W 393 393 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs112550263 19q13.42 19 54633244G> A null R K 396 396 missense 0.785 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs762873590 cosmic curated [Cosmic]: large_intestine cosmic_study:375 19q13.42 19 54633245G> C null R S 396 396 missense 0.499 possibly damaging 0.0 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs756925421 19q13.42 19 54633250A> G null Y C 398 398 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs745453177 19q13.42 19 54633252G> T null G C 399 399 missense 0.957 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs745453177 cosmic curated [Cosmic]: bone pubmed:23770606,cosmic_study:486 19q13.42 19 54633252G> A null G S 399 399 missense 0.05 benign 0.65 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199642118 19q13.42 19 54633258C> T null Q * 401 401 3.99E-4 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739176 19q13.42 19 54633260G> C null Q H 401 401 0.02915 missense 0.0 benign 0.6 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs386810937 19q13.42 19 54633259_54633260delinsT C null Q L 401 401 missense 0.0 benign 0.72 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739175 19q13.42 19 54633259A> T null Q L 401 401 0.02915 missense 0.0 benign 0.72 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739175 19q13.42 19 54633259A> G null Q R 401 401 0.02915 missense 0.0 benign 0.4 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs774642699 19q13.42 19 54633262G> A null S N 402 402 missense 0.011 benign 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs774642699 19q13.42 19 54633262G> C null S T 402 402 missense 0.056 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs767442597 19q13.42 19 54633264T> C null S P 403 403 missense 0.972 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370519288 19q13.42 19 54633267A> G null K E 404 404 0.001398 missense 0.039 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs374987978 19q13.42 19 54633268A> T null K I 404 404 missense 0.009 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed rs61739180 19q13.42 19 54633269A> C null K N 404 404 0.04573 missense 0.0 benign 0.38 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs559118408 19q13.42 19 54633270C> T null P S 405 405 missense 0.31 benign 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754175979 19q13.42 19 54633273T> C null Y H 406 406 missense 0.106 benign 0.13 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1318822732 19q13.42 19 54633280T> C null L P 408 408 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1373391000 19q13.42 19 54633283C> T null T I 409 409 missense 0.697 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs200721963 19q13.42 19 54633282A> T null T S 409 409 missense 0.012 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs756804003 19q13.42 19 54633286A> T null H L 410 410 missense 0.005 benign 0.92 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs780528827 19q13.42 19 54633287C> A null H Q 410 410 missense 0.025 benign 0.79 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs753134549 19q13.42 19 54633285C> T null H Y 410 410 missense 0.377 benign 0.85 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs745575930 19q13.42 19 54633293T> G null S R 412 412 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200928068 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633296C> A null D E 413 413 5.99E-4 missense 0.011 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200928068 19q13.42 19 54633296C> G null D E 413 413 5.99E-4 missense 0.011 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1171595571 19q13.42 19 54633295A> G null D G 413 413 missense 0.018 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs568777126 19q13.42 19 54633304A> C null E A 416 416 2.0E-4 missense 0.615 possibly damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs772220693 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19q13.42 19 54633309G> T null V L 418 418 missense 0.275 benign 0.67 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs772220693 19q13.42 19 54633309G> A null V M 418 418 missense 0.141 benign 0.28 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs773130427 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633312G> A null V I 419 419 missense 0.455 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl,NCI-TCGA rs148543880 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21499247,cosmic_study:348 19q13.42 19 54633316C> T null S L 420 420 missense 0.994 probably damaging 0.02 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs765935340 19q13.42 19 54633638G> C null G A 421 421 missense 0.113 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs765935340 19q13.42 19 54633638G> T null G V 421 421 missense 0.351 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376284831 19q13.42 19 54633641C> T null P L 422 422 2.0E-4 missense 0.005 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376284831 19q13.42 19 54633641C> G null P R 422 422 2.0E-4 missense 0.303 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs746908728 19q13.42 19 54633647G> T null G V 424 424 missense 0.096 benign 0.21 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs745419867 19q13.42 19 54633650G> T null G V 425 425 missense 0.005 benign 0.13 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1236121303 19q13.42 19 54633652C> A null P T 426 426 missense 0.037 benign 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1413282727 19q13.42 19 54633655A> T null S C 427 427 missense 0.818 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1300963253 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633659C> T null S F 428 428 missense 0.381 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs771021905 19q13.42 19 54633661C> G null P A 429 429 missense 0.037 benign 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376117202 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633662C> T null P L 429 429 missense 0.378 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376117202 19q13.42 19 54633662C> A null P Q 429 429 missense 0.151 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs771021905 19q13.42 19 54633661C> A null P T 429 429 missense 0.037 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs775989146 19q13.42 19 54633665C> A null T K 430 430 missense 0.098 benign 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs149088674 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 19q13.42 19 54633674C> A null P H 433 433 0.004593 missense 0.769 possibly damaging 0.02 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1247433195 19q13.42 19 54633673C> T null P S 433 433 missense 0.013 benign 0.29 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs774740219 19q13.42 19 54633676A> G null T A 434 434 missense 0.036 benign 0.56 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs190438944 19q13.42 19 54633677C> T null T I 434 434 2.0E-4 missense 0.011 benign 0.33 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1160925996 19q13.42 19 54633679T> C null S P 435 435 missense 0.003 benign 0.59 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1406401907 19q13.42 19 54633682A> G null T A 436 436 missense 0.023 benign 0.1 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs766022400 19q13.42 19 54633683C> T null T I 436 436 missense 0.018 benign 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs776262835 19q13.42 19 54633686C> G null S C 437 437 missense 0.003 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs776262835 19q13.42 19 54633686C> T null S F 437 437 missense 0.382 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1477910798 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633973G> A null G S 439 439 missense 0.142 benign 0.15 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs750300858 19q13.42 19 54633979G> A null E K 441 441 missense 0.02 benign 0.2 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1223238512 19q13.42 19 54633983A> G null D G 442 442 missense 0.029 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1409180064 19q13.42 19 54633985C> T null Q * 443 443 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1334631776 19q13.42 19 54633987G> C null Q H 443 443 missense 0.785 possibly damaging 0.1 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1478975942 19q13.42 19 54633986A> C null Q P 443 443 missense 0.596 possibly damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs756167774 19q13.42 19 54633989C> T null P L 444 444 missense 0.007 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568599033 19q13.42 19 54633994A> G null T A 446 446 missense 0.039 benign 0.3 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779482868 19q13.42 19 54633998C> A null P H 447 447 missense 0.785 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779482868 19q13.42 19 54633998C> G null P R 447 447 missense 0.059 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs755200926 19q13.42 19 54633997C> T null P S 447 447 missense 0.02 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 NCI-TCGA rs747328267 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54633994_54633995ins C null T H 448 448 frameshift 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1339085165 19q13.42 19 54634001C> T null T I 448 448 missense 0.481 possibly damaging 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1138736 19q13.42 19 54634003G> A null G R 449 449 0.1052 missense 0.046 benign 0.56 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1484974548 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 19q13.42 19 54634007C> T null S L 450 450 missense 0.03 benign 0.13 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs775034445 19q13.42 19 54634009G> C null D H 451 451 missense 0.019 benign 0.17 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs775034445 19q13.42 19 54634009G> T null D Y 451 451 missense 0.567 possibly damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1194818283 19q13.42 19 54634013C> T null P L 452 452 missense 0.335 benign 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs762570174 19q13.42 19 54634012C> T null P S 452 452 missense 0.099 benign 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1159820441 19q13.42 19 54634015C> A null Q K 453 453 missense 0.007 benign 0.72 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs761608191 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.42 19 54634019G> A null S N 454 454 missense 0.363 benign 0.22 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs776260153 19q13.42 19 54634641G> A null G D 455 455 missense 0.206 benign 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs200980213 19q13.42 19 54634021G> C null G R 455 455 3.99E-4 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs200980213 19q13.42 19 54634021G> A null G S 455 455 3.99E-4 missense 0.749 possibly damaging 0.05 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs745852358 19q13.42 19 54634647G> A null G E 457 457 missense 0.462 possibly damaging 0.7 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1288983113 19q13.42 19 54634650G> A null R K 458 458 missense 0.012 benign 0.93 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs368179916 19q13.42 19 54634652C> T null H Y 459 459 missense 0.09 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs1138737 19q13.42 19 54634655C> G null L V 460 460 0.07608 missense 0.906 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs750736177 19q13.42 19 54634671G> A null G D 465 465 missense 0.927 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs574281233 19q13.42 19 54634670G> A null G S 465 465 2.0E-4 missense 0.451 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs750425481 19q13.42 19 54634673A> C null I L 466 466 missense 0.025 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs756677170 19q13.42 19 54634674T> A null I N 466 466 missense 0.015 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs766879415 19q13.42 19 54634677T> C null L S 467 467 missense 0.042 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs754290121 19q13.42 19 54634682G> A null A T 469 469 missense 0.856 possibly damaging 0.05 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1159176281 19q13.42 19 54634686T> G null V G 470 470 missense 0.096 benign 0.12 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs777111349 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 19q13.42 19 54634685G> A null V I 470 470 missense 0.102 benign 0.06 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs777111349 19q13.42 19 54634685G> C null V L 470 470 missense 0.067 benign 0.29 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed rs559763739 19q13.42 19 54634689T> A null I N 471 471 2.0E-4 missense 0.444 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs1061683 19q13.42 19 54634688A> G null I V 471 471 0.1222 missense 0.003 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1319505425 19q13.42 19 54634697C> A null L I 474 474 missense 0.615 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs769653909 19q13.42 19 54634700C> T null L F 475 475 missense 0.005 benign 0.55 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1366816142 19q13.42 19 54634703C> T null L F 476 476 missense 1.0 probably damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1411259682 19q13.42 19 54634709C> A null L I 478 478 missense 0.999 probably damaging 0.31 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs749196069 19q13.42 19 54634710T> G null L R 478 478 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs966351678 19q13.42 19 54634712C> T null L F 479 479 missense 1.0 probably damaging 0.68 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs762151710 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54634718T> C null F L 481 481 missense 0.018 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs772175366 19q13.42 19 54634722T> A null L H 482 482 missense 0.986 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1179464349 19q13.42 19 54634725T> C null I T 483 483 missense 0.096 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376266152 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54634730C> T null R * 485 485 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs766685091 19q13.42 19 54634731G> A null R Q 485 485 missense 0.044 benign 0.14 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1394731054 19q13.42 19 54634733C> T null H Y 486 486 missense 0.012 benign 0.13 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs754376189 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54634736C> T null R * 487 487 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs760007990 19q13.42 19 54634737G> A null R Q 487 487 missense 0.013 benign 0.44 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs367994550 19q13.42 19 54634739C> T null R C 488 488 missense 0.888 possibly damaging 0.19 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs564223169 19q13.42 19 54634740G> A null R H 488 488 2.0E-4 missense 0.013 benign 0.27 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs564223169 19q13.42 19 54634740G> C null R P 488 488 2.0E-4 missense 0.872 possibly damaging 0.19 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs780713215 19q13.42 19 54634744G> C null Q H 489 489 missense 0.02 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779961978 19q13.42 19 54634748A> C null K Q 491 491 missense 0.962 probably damaging 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376436279 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54634761C> T null S L 495 495 2.0E-4 missense 0.019 benign 0.14 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1333634148 19q13.42 19 54635107A> G null Q R 497 497 missense 0.457 possibly damaging 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs747284687 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.42 19 54635109A> G null R G 498 498 missense 0.999 probably damaging 0.15 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs771130051 19q13.42 19 54635110G> T null R I 498 498 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs368951725 19q13.42 19 54635112A> C null K Q 499 499 missense 0.076 benign 0.32 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1365122687 19q13.42 19 54635115G> C null A P 500 500 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs770139748 19q13.42 19 54635124C> T null Q * 503 503 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs770139748 19q13.42 19 54635124C> G null Q E 503 503 missense 0.615 possibly damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1426612010 19q13.42 19 54635125A> C null Q P 503 503 missense 0.044 benign 0.29 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs763484018 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635134C> T null A V 506 506 missense 0.068 benign 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs767184399 19q13.42 19 54635137G> C null G A 507 507 missense 0.031 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs772832622 19q13.42 19 54635139G> T null A S 508 508 missense 0.928 probably damaging 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs772832622 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635139G> A null A T 508 508 missense 0.728 possibly damaging 0.19 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1194885485 19q13.42 19 54635143T> C null V A 509 509 missense 0.005 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1447157676 19q13.42 19 54635142G> A null V M 509 509 missense 0.847 possibly damaging 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs753469234 19q13.42 19 54635152A> G null E G 512 512 missense 0.46 possibly damaging 0.2 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs766132479 19q13.42 19 54635151G> C null E Q 512 512 missense 0.543 possibly damaging 0.25 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs765044717 19q13.42 19 54635155C> A null P H 513 513 missense 0.947 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs765044717 19q13.42 19 54635155C> T null P L 513 513 missense 0.046 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs754755189 19q13.42 19 54635154C> T null P S 513 513 missense 0.857 possibly damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs752622094 19q13.42 19 54635157A> G null T A 514 514 missense 0.061 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1172059364 19q13.42 19 54635160G> A null D N 515 515 missense 0.073 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1385784720 19q13.42 19 54635166G> C null G R 517 517 missense 0.978 probably damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs529093113 19q13.42 19 54635176G> A null W * 520 520 2.0E-4 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs777888355 19q13.42 19 54635177G> C null W C 520 520 missense 0.579 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1436568391 19q13.42 19 54635175T> G null W G 520 520 missense 0.05 benign 0.17 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1302113031 19q13.42 19 54635179G> C null R T 521 521 missense 0.757 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1205133986 19q13.42 19 54635260T> A null S T 522 522 missense 0.516 possibly damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1254162905 19q13.42 19 54635263A> G null S G 523 523 missense 0.833 possibly damaging 0.14 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1180102509 19q13.42 19 54635267C> T null P L 524 524 missense 0.969 probably damaging 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1222741259 19q13.42 19 54635270C> G null A G 525 525 missense 0.863 possibly damaging 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1407024466 19q13.42 19 54635276A> G null D G 527 527 missense 0.381 benign 0.21 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs779583013 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635275G> A null D N 527 527 missense 0.031 benign 0.22 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs534589866 19q13.42 19 54635278G> A null A T 528 528 2.0E-4 missense 0.005 benign 0.92 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1299136664 19q13.42 19 54635283G> C null Q H 529 529 missense 0.987 probably damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568604437 19q13.42 19 54635284G> A null E K 530 530 missense 0.615 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs776187452 19q13.42 19 54635292C> A null N K 532 532 missense 0.535 possibly damaging 0.37 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1317734604 19q13.42 19 54635291A> G null N S 532 532 missense 0.281 benign 0.78 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1020655514 19q13.42 19 54635296T> C null Y H 534 534 missense 0.73 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1188387328 19q13.42 19 54635563C> T null A V 536 536 missense 0.575 possibly damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1177588307 cosmic curated [Cosmic]: large_intestine cosmic_study:376 19q13.42 19 54635566T> C null V A 537 537 missense 0.358 benign 0.05 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs772962440 19q13.42 19 54635565G> A null V M 537 537 missense 0.26 benign 0.24 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs530938862 19q13.42 19 54635571C> G null H D 539 539 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1156259777 19q13.42 19 54635573C> A null H Q 539 539 missense 0.113 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs375516041 19q13.42 19 54635572A> G null H R 539 539 missense 0.085 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754156754 19q13.42 19 54635577C> T null Q * 541 541 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754156754 19q13.42 19 54635577C> G null Q E 541 541 missense 0.421 benign 0.14 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs755231026 19q13.42 19 54635579G> T null Q H 541 541 missense 0.993 probably damaging 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1296679368 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635580C> T null P S 542 542 missense 0.939 probably damaging 0.13 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737692 cosmic curated [Cosmic]: endometrium cosmic_study:419 19q13.42 19 54635585G> C null E D 543 543 0.01098 missense 0.82 possibly damaging 0.03 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1236420698 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635586G> A null D N 544 544 missense 0.976 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1276514200 19q13.42 19 54635587A> T null D V 544 544 missense 0.988 probably damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs758623733 19q13.42 19 54635590G> C null G A 545 545 missense 0.03 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1216715058 19q13.42 19 54635589G> A null G R 545 545 missense 0.03 benign 0.2 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs918944070 19q13.42 19 54635592G> C null V L 546 546 missense 0.166 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs61739256 19q13.42 19 54635597G> T null E D 547 547 missense 0.046 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs199662863 19q13.42 19 54635600G> A null M I 548 548 missense 0.025 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1455921055 19q13.42 19 54635598A> C null M L 548 548 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs755681901 19q13.42 19 54635599T> C null M T 548 548 missense 0.131 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs748996182 19q13.42 19 54635605C> A null T N 550 550 missense 0.287 benign 0.15 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs748996182 19q13.42 19 54635605C> G null T S 550 550 missense 0.009 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs773925105 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635608G> A null R Q 551 551 missense 0.013 benign 0.54 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201106261 19q13.42 19 54635607C> T null R W 551 551 2.0E-4 missense 0.019 benign 0.35 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs373290406 19q13.42 19 54636494C> A null Q K 552 552 missense 0.108 benign 0.15 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs916417556 19q13.42 19 54636497A> G null S G 553 553 missense 0.519 possibly damaging 0.13 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs369822175 19q13.42 19 54636505C> G null H Q 555 555 missense 0.789 possibly damaging 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs749778011 19q13.42 19 54636506G> A null D N 556 556 missense 0.047 benign 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs749778011 19q13.42 19 54636506G> T null D Y 556 556 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs202036981 19q13.42 19 54636509G> A null E K 557 557 missense 0.863 possibly damaging 0.05 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1350382149 19q13.42 19 54636512G> A null D N 558 558 missense 0.999 probably damaging 0.05 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs201022583 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23104868,cosmic_study:454 19q13.42 19 54636516C> T null P L 559 559 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs201022583 19q13.42 19 54636516C> G null P R 559 559 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs200167361 19q13.42 19 54636520G> C null Q H 560 560 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs375960208 19q13.42 19 54636528C> T null T M 563 563 missense 1.0 probably damaging 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs77680604 19q13.42 19 54636537A> C null E A 566 566 0.01378 missense 0.039 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs41308744 cosmic curated [Cosmic]: NS pubmed:22722201,cosmic_study:385 19q13.42 19 54636536G> A null E K 566 566 0.01378 missense 0.003 benign 0.07 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs41308744 19q13.42 19 54636536G> C null E Q 566 566 0.01378 missense 0.003 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1182318763 19q13.42 19 54636539G> T null V L 567 567 missense 0.511 possibly damaging 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1253516845 19q13.42 19 54636543A> G null K R 568 568 missense 0.898 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1471437826 19q13.42 19 54636546A> T null H L 569 569 missense 0.012 benign 0.14 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1471437826 19q13.42 19 54636546A> C null H P 569 569 missense 0.847 possibly damaging 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs780538983 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54636549C> T null S F 570 570 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs780538983 19q13.42 19 54636549C> A null S Y 570 570 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs200490901 19q13.42 19 54636553A> T null R S 571 571 missense 0.209 benign 0.16 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1406978054 19q13.42 19 54636555C> G null P R 572 572 missense 0.94 probably damaging 0.21 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1007163851 19q13.42 19 54636554C> T null P S 572 572 missense 0.272 benign 0.83 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1039957233 19q13.42 19 54636558G> A null R K 573 573 missense 0.995 probably damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs746540786 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54636563G> T null E * 575 575 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs746540786 19q13.42 19 54636563G> C null E Q 575 575 missense 0.986 probably damaging 0.39 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1430455472 19q13.42 19 54636567T> A null M K 576 576 missense 0.942 probably damaging 0.85 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1328117804 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 19q13.42 19 54636570C> T null A V 577 577 missense 0.615 possibly damaging 0.01 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC rs745478775 19q13.42 19 54636576C> G null P R 579 579 missense 0.106 benign 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs370268778 19q13.42 19 54636578C> G null P A 580 580 missense 0.785 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1441753989 19q13.42 19 54636579C> T null P L 580 580 missense 0.113 benign 0.12 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs267605670 19q13.42 19 54636585C> T null P L 582 582 missense 0.786 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs995680547 19q13.42 19 54636584C> T null P S 582 582 missense 0.202 benign 0.53 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28409473 19q13.42 19 54636594G> A null G E 585 585 0.04333 missense 0.003 benign 0.53 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs774103939 19q13.42 19 54636593G> A null G R 585 585 missense 0.255 benign 0.4 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1203418755 19q13.42 19 54636602C> G null L V 588 588 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs370996882 19q13.42 19 54636614G> A null D N 592 592 missense 0.782 possibly damaging 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1273930622 19q13.42 19 54636618G> A null R K 593 593 missense 0.039 benign 0.23 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed rs750702853 19q13.42 19 54636624C> A null A E 595 595 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed rs750702853 19q13.42 19 54636624C> T null A V 595 595 missense 0.075 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754257202 19q13.42 19 54636626G> A null E K 596 596 missense 0.073 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs779498070 19q13.42 19 54636633A> G null D G 598 598 missense 0.72 possibly damaging 0.23 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs199541342 19q13.42 19 54636640G> T null Q H 600 600 missense 0.919 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs745583130 19q13.42 19 54636642T> G null M R 601 601 missense 0.964 probably damaging 0.27 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1446271906 19q13.42 19 54636648C> T null T I 603 603 missense 0.991 probably damaging 0.04 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs201258189 19q13.42 19 54636732G> C null A P 605 605 2.0E-4 missense 0.067 benign 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs201258189 19q13.42 19 54636732G> A null A T 605 605 2.0E-4 missense 0.812 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1402609856 19q13.42 19 54636739C> G null A G 607 607 missense 0.759 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs759391990 19q13.42 19 54636747G> A null A T 610 610 missense 0.363 benign 0.24 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs979286427 19q13.42 19 54636748C> T null A V 610 610 missense 0.02 benign 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1273692580 19q13.42 19 54636751C> A null P H 611 611 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs200966826 19q13.42 19 54636750C> T null P S 611 611 missense 0.168 benign 0.09 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1332741732 19q13.42 19 54636756G> A null D N 613 613 missense 0.991 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1246292065 19q13.42 19 54636762A> G null T A 615 615 missense 0.877 possibly damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201166306 19q13.42 19 54636763C> T null T I 615 615 3.99E-4 missense 0.986 probably damaging 0.05 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201166306 19q13.42 19 54636763C> G null T S 615 615 3.99E-4 missense 0.674 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1160201254 19q13.42 19 54636766A> G null Y C 616 616 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs777882631 cosmic curated [Cosmic]: prostate cosmic_study:435 19q13.42 19 54636768G> A null A T 617 617 missense 0.992 probably damaging 0.08 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1489874416 19q13.42 19 54636773G> T null Q H 618 618 missense 0.55 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs746914203 19q13.42 19 54636772A> T null Q L 618 618 missense 0.979 probably damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs746914203 19q13.42 19 54636772A> G null Q R 618 618 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs776837939 19q13.42 19 54636779C> G null H Q 620 620 missense 0.003 benign 0.23 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs634222 19q13.42 19 54636785G> C null L F 622 622 missense 0.22 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs634222 19q13.42 19 54636785G> T null L F 622 622 missense 0.22 benign 0.07 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs369673231 19q13.42 19 54636787C> T null T I 623 623 missense 0.991 probably damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1464715024 19q13.42 19 54636790T> C null L P 624 624 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs752108032 19q13.42 19 54636789C> G null L V 624 624 missense 0.98 probably damaging 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs753349590 19q13.42 19 54636796G> C null R P 626 626 missense 0.737 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs753349590 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:375 19q13.42 19 54636796G> A null R Q 626 626 missense 0.022 benign 0.82 tolerated 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs765937694 19q13.42 19 54636795C> T null R W 626 626 missense 0.019 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs16985478 19q13.42 19 54636798G> A null E K 627 627 missense 0.018 benign 0.37 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1411283200 19q13.42 19 54636799A> T null E V 627 627 missense 0.462 possibly damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs758169671 19q13.42 19 54636802C> G null A G 628 628 missense 0.693 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs777690584 19q13.42 19 54636810C> A null P T 631 631 missense 0.944 probably damaging 0.08 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs546237047 19q13.42 19 54636814C> A null P H 632 632 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1221829910 19q13.42 19 54636817C> T null P L 633 633 missense 0.924 probably damaging 0.3 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs201395386 19q13.42 19 54636816C> T null P S 633 633 missense 0.89 possibly damaging 0.87 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed rs562284717 19q13.42 19 54636825G> A null E K 636 636 7.99E-4 missense 0.073 benign 0.12 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed rs562284717 19q13.42 19 54636825G> C null E Q 636 636 7.99E-4 missense 0.17 benign 0.11 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed rs371895769 19q13.42 19 54636829G> A null G E 637 637 missense 0.197 benign 0.44 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs996099779 19q13.42 19 54636828G> A null G R 637 637 missense 0.007 benign 0.32 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1047213292 19q13.42 19 54636831C> G null P A 638 638 missense 0.0 benign 0.21 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs887248063 19q13.42 19 54636832C> A null P H 638 638 missense 0.382 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1047213292 19q13.42 19 54636831C> T null P S 638 638 missense 0.026 benign 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs769871972 19q13.42 19 54636835C> G null S C 639 639 missense 0.819 possibly damaging 0.01 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs769871972 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54636835C> T null S F 639 639 missense 0.771 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1035696164 19q13.42 19 54636834T> C null S P 639 639 missense 0.003 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs775609439 19q13.42 19 54636837C> G null P A 640 640 missense 0.412 benign 0.02 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs527847806 19q13.42 19 54636838C> T null P L 640 640 2.0E-4 missense 0.777 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs200208553 19q13.42 19 54636844T> A null V E 642 642 0.03734 missense 0.0 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC rs774688543 19q13.42 19 54636843G> A null V M 642 642 missense 0.015 benign 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1210282785 19q13.42 19 54636846C> T null P S 643 643 missense 0.052 benign 0.18 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs758997220 19q13.42 19 54636849A> G null S G 644 644 missense 0.709 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs200702196 19q13.42 19 54636850G> A null S N 644 644 2.0E-4 missense 0.709 possibly damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1296071899 19q13.42 19 54636852A> G null I V 645 645 missense 0.003 benign 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1395375851 19q13.42 19 54636857C> A null Y * 646 646 stop gained 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199564534 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19q13.42 19 54636858G> A null A T 647 647 0.002196 missense 0.783 possibly damaging 0.05 deleterious 1 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1314681577 19q13.42 19 54636861A> G null T A 648 648 missense 0.508 possibly damaging 1.0 tolerated 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs764047788 19q13.42 19 54636865T> C null L P 649 649 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs751405593 19q13.42 19 54636871T> A null I N 651 651 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs751405593 19q13.42 19 54636871T> C null I T 651 651 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSV6 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs865783373 19q13.42 19 54636875C> G null H Q 652 652 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs369806517 19q13.31 19 43880137C> G null Q H 2 2 missense 0.56 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs760790680 19q13.31 19 43880138T> C null Q R 2 2 missense 0.003 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1483660588 19q13.31 19 43880136C> T null V M 3 3 missense 0.238 benign 0.29 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376513790 19q13.31 19 43880130A> T null L M 5 5 2.0E-4 missense 0.888 possibly damaging 0.06 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs752124182 19q13.31 19 43880123A> G null F S 7 7 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs868327852 19q13.31 19 43880120C> A null S I 8 8 missense 0.929 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs868327852 19q13.31 19 43880120C> T null S N 8 8 missense 0.027 benign 0.06 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs373962641 19q13.31 19 43880119G> T null S R 8 8 missense 0.887 possibly damaging 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs780691955 19q13.31 19 43880118C> T null D N 9 9 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs758882011 19q13.31 19 43880111G> T null A D 11 11 missense 0.871 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1335099798 19q13.31 19 43880112C> T null A T 11 11 missense 0.731 possibly damaging 0.07 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,gnomAD rs557978739 19q13.31 19 43880108A> G null I T 12 12 2.0E-4 missense 0.506 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1397255177 19q13.31 19 43880109T> C null I V 12 12 missense 0.021 benign 0.79 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1568437331 19q13.31 19 43880101G> T null F L 14 14 missense 0.994 probably damaging 0.06 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,gnomAD rs544746475 19q13.31 19 43880099G> C null S C 15 15 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs753298652 19q13.31 19 43880097G> C null Q E 16 16 missense 0.208 benign 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,gnomAD rs575254894 19q13.31 19 43880093T> A null E V 17 17 2.0E-4 missense 0.928 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs760177643 19q13.31 19 43880088A> C null W G 19 19 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1049864173 19q13.31 19 43880084T> C null E G 20 20 missense 0.506 possibly damaging 0.09 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192710212 19q13.31 19 43880072G> A null S L 24 24 9.98E-4 missense 0.012 benign 0.14 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192710212 19q13.31 19 43880072G> C null S W 24 24 9.98E-4 missense 0.931 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,gnomAD rs372787761 19q13.31 19 43880063C> T null R K 27 27 missense 0.005 benign 0.72 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1174179545 19q13.31 19 43880061C> T null D N 28 28 missense 0.011 benign 0.36 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs772207400 19q13.31 19 43880045A> G null V A 33 33 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs776712282 19q13.31 19 43880041C> A null M I 34 34 missense 0.981 probably damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,TOPMed,gnomAD rs146536021 19q13.31 19 43880042A> G null M T 34 34 3.99E-4 missense 0.988 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs747063485 19q13.31 19 43880039A> G null L S 35 35 missense 0.973 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1246948503 19q13.31 19 43880036T> G null E A 36 36 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs780743166 19q13.31 19 43880037C> T null E K 36 36 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1375256950 19q13.31 19 43880019C> T null V I 42 42 missense 0.007 benign 0.22 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs201247654 19q13.31 19 43880011C> A null L F 44 44 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1318642301 19q13.31 19 43880010C> T null D N 45 45 missense 0.065 benign 0.15 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77337446 19q13.31 19 43874072T> C null N D 47 47 0.07867 missense 0.0 benign 0.39 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs768968548 19q13.31 19 43874070A> C null N K 47 47 missense 0.001 benign 0.36 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs776961166 19q13.31 19 43874071T> G null N T 47 47 missense 0.003 benign 0.22 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs775657404 19q13.31 19 43874055G> C null S R 52 52 missense 0.148 benign 0.28 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,TOPMed,gnomAD rs192466670 19q13.31 19 43874050T> C null K R 54 54 2.0E-4 missense 0.281 benign 0.3 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1195269252 19q13.31 19 43874044G> A null S F 56 56 missense 0.999 probably damaging 0.55 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs771386856 19q13.31 19 43874045A> T null S T 56 56 missense 0.996 probably damaging 0.27 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1468802538 19q13.31 19 43874032C> A null R I 60 60 missense 0.001 benign 0.13 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,gnomAD rs189377040 19q13.31 19 43874030T> A null N Y 61 61 2.0E-4 missense 0.533 possibly damaging 0.1 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77779894 19q13.31 19 43874026T> C null Y C 62 62 0.05711 missense 0.015 benign 0.16 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1167009538 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43874024C> T null E K 63 63 missense 0.542 possibly damaging 0.12 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs755724163 19q13.31 19 43874021C> T null V I 64 64 missense 0.47 possibly damaging 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1370503772 19q13.31 19 43874016A> C null N K 65 65 missense 0.707 possibly damaging 0.72 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs752226766 19q13.31 19 43874014G> A null A V 66 66 missense 0.079 benign 0.36 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs754916132 19q13.31 19 43874006G> A null Q * 69 69 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1276315708 19q13.31 19 43874003C> A null E * 70 70 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,gnomAD rs558978047 19q13.31 19 43874001C> G null E D 70 70 2.0E-4 missense 0.51 possibly damaging 0.2 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1276315708 19q13.31 19 43874003C> T null E K 70 70 missense 0.035 benign 0.25 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1568436240 19q13.31 19 43873995C> T null W * 72 72 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1370784699 19q13.31 19 43873997A> G null W R 72 72 missense 0.03 benign 0.36 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs766202669 19q13.31 19 43873990C> A null R I 74 74 missense 0.691 possibly damaging 0.31 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs545303355 19q13.31 19 43873986A> C null N K 75 75 missense 0.005 benign 0.93 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1275946579 19q13.31 19 43873987T> C null N S 75 75 missense 0.003 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs765795518 19q13.31 19 43873975T> C null N S 79 79 missense 0.025 benign 0.6 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1408354970 19q13.31 19 43873970T> A null M L 81 81 missense 0.001 benign 0.12 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs764429897 19q13.31 19 43873966C> T null R K 82 82 missense 0.075 benign 0.83 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs760920299 19q13.31 19 43873963A> G null F S 83 83 missense 0.799 possibly damaging 0.45 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs771819839 19q13.31 19 43873958A> C null F V 85 85 missense 0.281 benign 0.08 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1394297739 19q13.31 19 43873955T> C null R G 86 86 missense 0.019 benign 0.3 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs772347981 19q13.31 19 43873954C> T null R K 86 86 missense 0.45 possibly damaging 0.49 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs759523102 19q13.31 19 43873945G> A null P L 89 89 missense 0.156 benign 0.58 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1232896696 19q13.31 19 43873943G> A null Q * 90 90 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1232896696 19q13.31 19 43873943G> C null Q E 90 90 missense 0.005 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1281990933 19q13.31 19 43873933A> G null I T 93 93 missense 0.005 benign 0.5 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1435628333 19q13.31 19 43873934T> C null I V 93 93 missense 0.005 benign 0.57 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs749695278 19q13.31 19 43873924C> T null G E 96 96 missense 0.011 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs771314796 19q13.31 19 43873925C> A null G W 96 96 missense 0.878 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs769451635 19q13.31 19 43873907T> C null K E 102 102 missense 0.157 benign 0.38 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs769451635 19q13.31 19 43873907T> G null K Q 102 102 missense 0.024 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs780808011 19q13.31 19 43873898A> C null C G 105 105 missense 0.005 benign 0.31 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1268836230 19q13.31 19 43873897C> T null C Y 105 105 missense 0.005 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1361019444 19q13.31 19 43873891C> T null S N 107 107 missense 0.024 benign 0.35 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs754529823 19q13.31 19 43873889G> A null Q * 108 108 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs754529823 19q13.31 19 43873889G> T null Q K 108 108 missense 0.108 benign 0.19 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs961160003 19q13.31 19 43873886T> C null M V 109 109 missense 0.001 benign 0.69 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs942947991 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873883T> C null I V 110 110 missense 0.102 benign 0.24 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1434375700 19q13.31 19 43873880A> G null F L 111 111 missense 0.005 benign 0.07 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1374573907 19q13.31 19 43873876T> C null K R 112 112 missense 0.0 benign 0.84 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs780070746 19q13.31 19 43873873T> C null K R 113 113 missense 0.936 probably damaging 0.34 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1408607183 19q13.31 19 43873870T> C null H R 114 114 missense 0.009 benign 0.63 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1468128625 19q13.31 19 43873858G> C null P R 118 118 missense 0.146 benign 0.27 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs912701137 19q13.31 19 43873859G> A null P S 118 118 missense 0.006 benign 0.7 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,NCI-TCGA,TOPMed,gnomAD rs765055556 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873853G> A null H Y 120 120 missense 0.003 benign 0.14 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1278546349 19q13.31 19 43873850T> A null K * 121 121 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1218376505 19q13.31 19 43873841T> C null N D 124 124 missense 0.066 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs753030348 19q13.31 19 43873837G> A null T I 125 125 missense 0.831 possibly damaging 0.1 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs753030348 19q13.31 19 43873837G> T null T K 125 125 missense 0.628 possibly damaging 0.04 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs767832824 19q13.31 19 43873835T> C null R G 126 126 missense 0.001 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1232401166 19q13.31 19 43873830C> A null E D 127 127 missense 0.234 benign 0.05 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs761109252 19q13.31 19 43873825G> A null S L 129 129 missense 0.007 benign 0.36 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1286709710 19q13.31 19 43873822T> C null Y C 130 130 missense 0.191 benign 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs759706244 19q13.31 19 43873816C> A null C F 132 132 missense 0.117 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs759706244 19q13.31 19 43873816C> T null C Y 132 132 missense 0.861 possibly damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs771492859 19q13.31 19 43873811C> T null E K 134 134 missense 0.02 benign 0.04 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs773573216 19q13.31 19 43873806A> T null Y * 135 135 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1290926560 19q13.31 19 43873807T> C null Y C 135 135 missense 0.001 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs763311001 19q13.31 19 43873808A> T null Y N 135 135 missense 0.533 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs770212368 19q13.31 19 43873805T> C null K E 136 136 missense 0.075 benign 0.14 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs980677148 19q13.31 19 43873801T> A null K M 137 137 missense 0.86 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs980677148 19q13.31 19 43873801T> G null K T 137 137 missense 0.686 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1353393240 19q13.31 19 43873799C> T null G S 138 138 missense 0.009 benign 0.09 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs768154434 19q13.31 19 43873798C> A null G V 138 138 missense 0.156 benign 0.15 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1568436154 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873792C> G null R T 140 140 missense 0.007 benign 0.46 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,gnomAD rs567043033 19q13.31 19 43873780T> G null H P 144 144 2.0E-4 missense 0.795 possibly damaging 0.16 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs866484843 cosmic curated [Cosmic]: thyroid cosmic_study:589 19q13.31 19 43873778G> T null L I 145 145 missense 0.059 benign 0.05 deleterious 1 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1328524055 19q13.31 19 43873777A> G null L P 145 145 missense 0.056 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1214218627 19q13.31 19 43873774G> A null T I 146 146 missense 0.014 benign 0.57 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1024736797 19q13.31 19 43873769G> A null H Y 148 148 missense 0.88 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs757169678 19q13.31 19 43873756T> G null H P 152 152 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1297955251 19q13.31 19 43873744A> G null I T 156 156 missense 0.0 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,gnomAD rs547116516 19q13.31 19 43873738T> C null Y C 158 158 2.0E-4 missense 0.033 benign 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs768128086 19q13.31 19 43873731A> C null C W 160 160 missense 0.957 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,TOPMed,gnomAD rs533626783 19q13.31 19 43873723C> T null C Y 163 163 2.0E-4 missense 0.499 possibly damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs766304830 19q13.31 19 43873711A> C null F C 167 167 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs896035881 19q13.31 19 43873706C> T null V I 169 169 missense 0.005 benign 0.39 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1411906088 19q13.31 19 43873699T> A null Q L 171 171 missense 0.108 benign 0.11 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs763084710 19q13.31 19 43873691T> C null I V 174 174 missense 0.011 benign 0.35 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs773755436 19q13.31 19 43873686T> A null R S 175 175 missense 0.009 benign 0.4 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs765700292 19q13.31 19 43873684T> C null H R 176 176 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,TOPMed,gnomAD rs184214090 19q13.31 19 43873682G> A null R * 177 177 2.0E-4 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs775530830 19q13.31 19 43873681C> A null R L 177 177 missense 0.13 benign 0.04 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,NCI-TCGA,TOPMed,gnomAD rs775530830 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873681C> T null R Q 177 177 missense 0.003 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1025717419 19q13.31 19 43873679T> A null K * 178 178 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1470164460 19q13.31 19 43873674G> C null I M 179 179 missense 0.042 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1568436113 19q13.31 19 43873675A> G null I T 179 179 missense 0.005 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs746572445 19q13.31 19 43873676T> C null I V 179 179 missense 0.005 benign 0.1 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,gnomAD rs551352059 19q13.31 19 43873673G> T null H N 180 180 2.0E-4 missense 0.833 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs771537388 19q13.31 19 43873671G> T null H Q 180 180 missense 0.882 possibly damaging 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,NCI-TCGA,gnomAD rs551352059 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873673G> A null H Y 180 180 2.0E-4 missense 0.039 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs757224969 19q13.31 19 43873657G> A null P L 185 185 missense 0.905 possibly damaging 0.05 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs779036394 19q13.31 19 43873658G> T null P T 185 185 missense 0.818 possibly damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116332620 19q13.31 19 43873649A> G null C R 188 188 0.008986 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1307141231 19q13.31 19 43873648C> T null C Y 188 188 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,gnomAD rs569090878 19q13.31 19 43873639C> T null C Y 191 191 2.0E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC rs755233564 19q13.31 19 43873637C> T null E K 192 192 missense 0.019 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC rs751796267 19q13.31 19 43873631C> A null A S 194 194 missense 0.219 benign 0.2 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC rs751796267 19q13.31 19 43873631C> T null A T 194 194 missense 0.034 benign 0.61 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1372972907 19q13.31 19 43873630G> A null A V 194 194 missense 0.623 possibly damaging 0.06 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs766612437 19q13.31 19 43873628A> T null F I 195 195 missense 0.411 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs766612437 19q13.31 19 43873628A> C null F V 195 195 missense 0.056 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1440123457 19q13.31 19 43873613G> A null Q * 200 200 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1312866205 19q13.31 19 43873600T> A null H L 204 204 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1350884796 19q13.31 19 43873596C> A null Q H 205 205 missense 0.991 probably damaging 0.11 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,TOPMed,gnomAD rs560369991 19q13.31 19 43873589G> A null H Y 208 208 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs764429040 19q13.31 19 43873585G> A null T I 209 209 missense 0.973 probably damaging 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs370102344 19q13.31 19 43873586T> G null T P 209 209 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs764429040 19q13.31 19 43873585G> C null T S 209 209 missense 0.253 benign 0.07 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1193502561 19q13.31 19 43873582C> A null G V 210 210 missense 0.905 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs12978958 19q13.31 19 43873576T> A null K I 212 212 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1196449776 19q13.31 19 43873570T> G null Y S 214 214 missense 0.957 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs771728040 19q13.31 19 43873565A> G null C R 216 216 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1249813020 19q13.31 19 43873556A> G null C R 219 219 missense 0.892 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs759152735 19q13.31 19 43873555C> T null C Y 219 219 missense 0.958 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs373749668 19q13.31 19 43873553C> T null G R 220 220 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs749171632 19q13.31 19 43873546G> T null A D 222 222 missense 0.394 benign 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1426587931 19q13.31 19 43873547C> G null A P 222 222 missense 0.558 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs769536602 19q13.31 19 43873538G> A null R C 225 225 missense 0.767 possibly damaging 0.08 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs369554464 19q13.31 19 43873537C> T null R H 225 225 missense 0.001 benign 0.14 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs758565954 19q13.31 19 43873529G> A null H Y 228 228 missense 0.117 benign 0.11 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1173406813 19q13.31 19 43873526G> T null L I 229 229 missense 0.383 benign 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs376219255 19q13.31 19 43873522G> T null T K 230 230 missense 0.109 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs757321795 19q13.31 19 43873519T> G null E A 231 231 missense 0.143 benign 0.49 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1366044699 19q13.31 19 43873520C> T null E K 231 231 missense 0.005 benign 0.66 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12977303 pubmed:15489334 19q13.31 19 43873517G> A null H Y 232 232 0.39 missense 0.408 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192575521 19q13.31 19 43873514G> C null Q E 233 233 0.004593 missense 0.201 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs760987927 19q13.31 19 43873513T> G null Q P 233 233 missense 0.859 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1486129852 19q13.31 19 43873509T> A null K N 234 234 missense 0.019 benign 0.04 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs753068493 19q13.31 19 43873504T> G null H P 236 236 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1342686689 19q13.31 19 43873502C> T null V I 237 237 missense 0.001 benign 0.15 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1032376405 19q13.31 19 43873481A> G null C R 244 244 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs992069346 19q13.31 19 43873477T> C null K R 245 245 missense 0.506 possibly damaging 0.04 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1416167999 19q13.31 19 43873468C> T null G E 248 248 missense 0.619 possibly damaging 0.04 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs35756172 19q13.31 19 43873466C> A null E * 249 249 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1355692633 19q13.31 19 43873465T> C null E G 249 249 missense 0.392 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl,NCI-TCGA rs35756172 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.31 19 43873466C> T null E K 249 249 missense 0.031 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76483217 19q13.31 19 43873462G> A null T M 250 250 0.007588 missense 0.161 benign 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1329451184 19q13.31 19 43873455T> A null R S 252 252 missense 0.757 possibly damaging 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1043065155 19q13.31 19 43873454A> C null L V 253 253 missense 0.057 benign 0.5 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1250639712 19q13.31 19 43873450T> C null Y C 254 254 missense 0.994 probably damaging 0.18 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs553935311 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:376 19q13.31 19 43873448G> A null R * 255 255 2.0E-4 missense 1 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,TOPMed,gnomAD rs533684492 19q13.31 19 43873447C> T null R Q 255 255 2.0E-4 missense 0.041 benign 0.09 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs765361109 19q13.31 19 43873463_43873464insATAATCTAAACG T null R V 255 255 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1330348893 19q13.31 19 43873444T> C null H R 256 256 missense 0.149 benign 0.3 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1568435984 19q13.31 19 43873440C> T null M I 257 257 missense 0.149 benign 0.05 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs780981430 19q13.31 19 43873441A> C null M R 257 257 missense 0.735 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs780981430 19q13.31 19 43873441A> G null M T 257 257 missense 0.041 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs747916889 19q13.31 19 43873442T> C null M V 257 257 missense 0.023 benign 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs757373190 19q13.31 19 43873427T> C null K E 262 262 missense 0.883 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs753925853 19q13.31 19 43873420T> A null H L 264 264 missense 0.529 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC rs756598510 19q13.31 19 43873415C> A null G C 266 266 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC rs756598510 19q13.31 19 43873415C> T null G S 266 266 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs753020979 19q13.31 19 43873412C> T null V M 267 267 missense 0.106 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs759975984 19q13.31 19 43873405G> C null P R 269 269 missense 0.694 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1051341038 19q13.31 19 43873406G> A null P S 269 269 missense 0.04 benign 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1445396946 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873403A> G null Y H 270 270 missense 0.986 probably damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs868301198 19q13.31 19 43873400T> C null K E 271 271 missense 0.001 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1319407777 19q13.31 19 43873391C> T null E K 274 274 missense 0.135 benign 0.04 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs371310408 19q13.31 19 43873382T> C null K E 277 277 missense 0.239 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs772727273 19q13.31 19 43873379C> G null A P 278 278 missense 0.831 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs765099329 19q13.31 19 43873374A> C null F L 279 279 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs761743498 19q13.31 19 43873369T> C null H R 281 281 missense 0.026 benign 0.43 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200263609 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873367G> A null R C 282 282 missense 0.006 benign 0.11 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375525599 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873366C> T null R H 282 282 missense 0.001 benign 0.39 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs200263609 19q13.31 19 43873367G> T null R S 282 282 missense 0.019 benign 0.64 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs771276342 19q13.31 19 43873363G> C null S * 283 283 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs771276342 19q13.31 19 43873363G> A null S L 283 283 missense 0.818 possibly damaging 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,TOPMed,gnomAD rs572977725 19q13.31 19 43873357A> G null L P 285 285 2.0E-4 missense 0.367 benign 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs774594092 19q13.31 19 43873358G> C null L V 285 285 missense 0.711 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1215528621 19q13.31 19 43873351T> C null Q R 287 287 missense 0.571 possibly damaging 0.57 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1414346823 19q13.31 19 43873348T> C null H R 288 288 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs749353313 19q13.31 19 43873341T> A null K N 290 290 missense 0.725 possibly damaging 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1245607529 19q13.31 19 43873338A> C null I M 291 291 missense 0.807 possibly damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,NCI-TCGA,gnomAD rs748756735 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873321G> A null P L 297 297 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs756588465 19q13.31 19 43873322G> A null P S 297 297 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1227139912 19q13.31 19 43873312C> T null C Y 300 300 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs781761500 19q13.31 19 43873310C> A null E * 301 301 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs781761500 19q13.31 19 43873310C> T null E K 301 301 missense 0.0 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs983727125 19q13.31 19 43873299T> A null E D 304 304 missense 0.191 benign 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC rs755445347 19q13.31 19 43873291A> G null F S 307 307 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,NCI-TCGA,TOPMed,gnomAD rs751943333 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:414 19q13.31 19 43873286G> A null R C 309 309 missense 0.007 benign 0.19 tolerated 1 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,TOPMed,gnomAD rs553096527 19q13.31 19 43873285C> T null R H 309 309 7.99E-4 missense 0.007 benign 0.55 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,gnomAD rs370682591 19q13.31 19 43873283T> C null S G 310 310 missense 0.065 benign 0.7 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1320080701 19q13.31 19 43873279T> G null Y S 311 311 missense 0.06 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs749906092 19q13.31 19 43873270A> G null V A 314 314 missense 0.005 benign 0.52 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1055042254 19q13.31 19 43873271C> T null V I 314 314 missense 0.001 benign 0.34 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1285147793 19q13.31 19 43873265G> A null H Y 316 316 missense 0.93 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs764868498 19q13.31 19 43873262G> A null Q * 317 317 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs764868498 19q13.31 19 43873262G> C null Q E 317 317 missense 0.297 benign 0.06 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1167607351 19q13.31 19 43873258C> A null R I 318 318 missense 0.986 probably damaging 0.08 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs761212487 19q13.31 19 43873256T> C null S G 319 319 missense 0.197 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,NCI-TCGA,gnomAD rs377482373 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873255C> T null S N 319 319 missense 0.018 benign 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1454667041 19q13.31 19 43873246C> T null G D 322 322 missense 0.402 benign 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs763985349 19q13.31 19 43873237G> A null P L 325 325 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1439105689 19q13.31 19 43873233A> T null H Q 326 326 missense 0.786 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1273245615 19q13.31 19 43873228C> T null C Y 328 328 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1330551324 19q13.31 19 43873226T> A null M L 329 329 missense 0.003 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1568435865 19q13.31 19 43873225A> G null M T 329 329 missense 0.0 benign 0.06 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs760492139 19q13.31 19 43873221T> G null E D 330 330 missense 0.007 benign 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs936407637 19q13.31 19 43873219C> T null C Y 331 331 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1208788271 19q13.31 19 43873213T> C null K R 333 333 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs239942 19q13.31 19 43873205C> G null G R 336 336 0.001398 missense 0.006 benign 0.69 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs239942 pubmed:15489334 19q13.31 19 43873205C> T null G S 336 336 0.001398 missense 0.0 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,gnomAD rs549288767 19q13.31 19 43873202T> C null K E 337 337 5.99E-4 missense 0.003 benign 0.29 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1211876625 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873199C> T null G S 338 338 missense 0.068 benign 0.7 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs200890436 19q13.31 19 43873198C> A null G V 338 338 missense 0.335 benign 0.12 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs773302451 19q13.31 19 43873189A> G null L P 341 341 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs748156437 19q13.31 19 43873178T> C null K E 345 345 missense 0.358 benign 0.15 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs755492408 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873176C> A null K N 345 345 missense 0.735 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs755492408 19q13.31 19 43873176C> G null K N 345 345 missense 0.735 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1368409838 19q13.31 19 43873164A> T null S R 349 349 missense 0.697 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1362949739 19q13.31 19 43873160C> T null E K 351 351 missense 0.312 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs780498051 19q13.31 19 43873157T> G null K Q 352 352 missense 0.775 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC rs758684958 19q13.31 19 43873150T> C null Y C 354 354 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1434490548 19q13.31 19 43873151A> G null Y H 354 354 missense 0.963 probably damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1568435815 19q13.31 19 43873148C> T null D N 355 355 missense 0.009 benign 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs750144299 19q13.31 19 43873147T> A null D V 355 355 missense 0.029 benign 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs868010013 19q13.31 19 43873120C> A null C F 364 364 missense 0.509 possibly damaging 0.52 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs868010013 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873120C> T null C Y 364 364 missense 0.022 benign 0.71 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs753302156 19q13.31 19 43873118T> C null R G 365 365 missense 0.012 benign 0.28 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1180948052 19q13.31 19 43873117C> T null R K 365 365 missense 0.009 benign 0.28 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs764044458 19q13.31 19 43873111G> A null S F 367 367 missense 0.445 benign 0.09 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,TOPMed,gnomAD rs529188622 19q13.31 19 43873099T> C null Q R 371 371 2.0E-4 missense 0.894 possibly damaging 0.48 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs370001370 19q13.31 19 43873097G> T null H N 372 372 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs866027973 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43873090C> A null R I 374 374 missense 0.991 probably damaging 0.07 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs759242801 19q13.31 19 43873078C> G null G A 378 378 missense 0.739 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs759242801 19q13.31 19 43873078C> T null G D 378 378 missense 0.983 probably damaging 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1226008421 19q13.31 19 43873074C> G null E D 379 379 missense 0.375 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1374085105 19q13.31 19 43873070G> A null P S 381 381 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1413048722 19q13.31 19 43873067G> T null H N 382 382 missense 0.594 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs769878889 19q13.31 19 43873066T> C null H R 382 382 missense 0.636 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78264306 19q13.31 19 43873053T> G null E D 386 386 0.003395 missense 0.357 benign 0.05 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs776792377 19q13.31 19 43873051C> T null C Y 387 387 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1568435770 19q13.31 19 43873048C> G null G A 388 388 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1173545372 19q13.31 19 43873046T> C null K E 389 389 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs747582677 19q13.31 19 43873040A> G null F L 391 391 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs755102389 19q13.31 19 43873033A> T null L H 393 393 missense 0.994 probably damaging 0.55 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1173825243 19q13.31 19 43873034G> C null L V 393 393 missense 0.69 possibly damaging 0.5 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1220529665 19q13.31 19 43873021A> C null L R 397 397 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1259147586 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.31 19 43873010G> A null Q * 401 401 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs974331999 19q13.31 19 43873005T> C null I M 402 402 missense 0.969 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367904434 19q13.31 19 43873004T> A null I F 403 403 2.0E-4 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs746186290 19q13.31 19 43872998T> C null T A 405 405 missense 0.027 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1249419543 19q13.31 19 43872992A> T null L M 407 407 missense 0.109 benign 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1253756172 19q13.31 19 43872981A> C null Y * 410 410 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs756808943 19q13.31 19 43872977A> G null C R 412 412 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs756808943 19q13.31 19 43872977A> T null C S 412 412 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs777198921 19q13.31 19 43872967C> T null C Y 415 415 missense 0.082 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1018761356 19q13.31 19 43872965C> G null G R 416 416 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1278988181 19q13.31 19 43872958G> T null A D 418 418 missense 0.756 possibly damaging 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1395706192 19q13.31 19 43872959C> G null A P 418 418 missense 0.854 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs755617673 19q13.31 19 43872953T> C null S G 420 420 missense 0.003 benign 0.21 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs540011467 19q13.31 19 43872950G> A null R C 421 421 missense 0.885 possibly damaging 0.24 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,NCI-TCGA,TOPMed,gnomAD rs759418336 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 43872949C> T null R H 421 421 missense 0.014 benign 0.55 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs759418336 19q13.31 19 43872949C> A null R L 421 421 missense 0.222 benign 0.71 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1389267756 19q13.31 19 43872943C> A null G V 423 423 missense 0.675 possibly damaging 0.09 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1371624065 19q13.31 19 43872935T> C null K E 426 426 missense 0.318 benign 0.07 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs762057420 19q13.31 19 43872932T> A null T S 427 427 missense 0.012 benign 0.66 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1411988531 19q13.31 19 43872920T> C null I V 431 431 missense 0.784 possibly damaging 0.11 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1188654785 19q13.31 19 43872911C> T null G R 434 434 missense 0.982 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs768911414 19q13.31 19 43872902G> T null P T 437 437 missense 0.778 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs776103957 19q13.31 19 43872898T> C null Y C 438 438 missense 0.924 probably damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76550420 19q13.31 19 43872896C> T null E K 439 439 0.05691 missense 0.999 probably damaging 0.22 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1272060630 19q13.31 19 43872893A> G null C R 440 440 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs746264908 19q13.31 19 43872892C> T null C Y 440 440 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1244265171 19q13.31 19 43872883C> T null C Y 443 443 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1298070813 19q13.31 19 43872878T> C null K E 445 445 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1036836696 19q13.31 19 43872875T> C null T A 446 446 missense 0.014 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,TOPMed rs371443053 19q13.31 19 43872857G> A null Q * 452 452 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1432837761 19q13.31 19 43872856T> C null Q R 452 452 missense 0.318 benign 0.16 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1395959034 19q13.31 19 43872853A> G null L P 453 453 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1293607734 19q13.31 19 43872847T> C null Y C 455 455 missense 0.996 probably damaging 0.18 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs746283014 19q13.31 19 43872838G> A null T I 458 458 missense 0.006 benign 0.06 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs746283014 19q13.31 19 43872838G> T null T K 458 458 missense 0.006 benign 0.3 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs746283014 19q13.31 19 43872838G> C null T R 458 458 missense 0.01 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs770622488 19q13.31 19 43872836T> C null I V 459 459 missense 0.006 benign 0.16 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs749008366 19q13.31 19 43872827C> T null G S 462 462 missense 0.868 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1429453503 19q13.31 19 43872823A> G null L S 463 463 missense 0.894 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs777391021 19q13.31 19 43872817G> A null P L 465 465 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs777391021 19q13.31 19 43872817G> C null P R 465 465 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs755674781 19q13.31 19 43872814T> C null Y C 466 466 missense 0.319 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1253635820 19q13.31 19 43872811A> G null V A 467 467 missense 0.047 benign 0.09 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs761125402 19q13.31 19 43872809A> G null C R 468 468 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1487572313 19q13.31 19 43872808C> T null C Y 468 468 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1391100677 19q13.31 19 43872806T> C null K E 469 469 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367657995 19q13.31 19 43872805T> G null K T 469 469 2.0E-4 missense 0.999 probably damaging 0.05 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs773408983 19q13.31 19 43872803C> T null E K 470 470 missense 0.035 benign 0.05 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1393486005 19q13.31 19 43872799C> A null C F 471 471 missense 0.953 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs754824827 19q13.31 19 43872793T> C null K R 473 473 missense 0.074 benign 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1225996387 19q13.31 19 43872791C> G null A P 474 474 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1225996387 19q13.31 19 43872791C> A null A S 474 474 missense 0.794 possibly damaging 0.08 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1373089564 19q13.31 19 43872788A> C null F V 475 475 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76311065 19q13.31 19 43872785G> A null R C 476 476 0.02236 missense 0.857 possibly damaging 0.08 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs183038552 19q13.31 19 43872784C> T null R H 476 476 3.99E-4 missense 0.015 benign 0.23 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1261865282 19q13.31 19 43872752T> C null I V 487 487 missense 0.995 probably damaging 0.13 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs764380724 19q13.31 19 43872748T> A null H L 488 488 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ExAC,TOPMed,gnomAD rs540384444 19q13.31 19 43872742C> A null G V 490 490 7.99E-4 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs993011195 19q13.31 19 43872733G> C null P R 493 493 missense 0.733 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1189247884 19q13.31 19 43872734G> T null P T 493 493 missense 0.97 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs775382585 19q13.31 19 43872731A> T null Y N 494 494 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1568435629 19q13.31 19 43872730T> G null Y S 494 494 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375673538 19q13.31 19 43872725A> G null C R 496 496 2.0E-4 missense 0.519 possibly damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs774919624 19q13.31 19 43872724C> T null C Y 496 496 missense 0.189 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs866692346 19q13.31 19 43872712T> C null D G 500 500 missense 0.0 benign 1.0 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs771342885 19q13.31 19 43872706G> A null A V 502 502 missense 0.533 possibly damaging 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs749634594 19q13.31 19 43872701T> A null N Y 504 504 missense 0.431 benign 0.3 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs372380430 19q13.31 19 43872698G> A null R C 505 505 missense 0.844 possibly damaging 0.2 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs201850953 19q13.31 19 43872697C> T null R H 505 505 missense 0.006 benign 0.57 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs201850953 19q13.31 19 43872697C> A null R L 505 505 missense 0.131 benign 0.76 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1256486994 19q13.31 19 43872691T> C null D G 507 507 missense 0.005 benign 0.05 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,NCI-TCGA,TOPMed,gnomAD rs747682032 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.31 19 43872689G> A null R * 508 508 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs780498582 19q13.31 19 43872688C> T null R Q 508 508 missense 0.854 possibly damaging 0.7 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1409989517 19q13.31 19 43872682G> A null T I 510 510 missense 0.005 benign 0.46 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1409989517 19q13.31 19 43872682G> C null T S 510 510 missense 0.108 benign 0.22 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs985503176 19q13.31 19 43872680G> A null Q * 511 511 stop gained 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs986378452 19q13.31 19 43872677G> A null H Y 512 512 missense 0.9 possibly damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs953382588 19q13.31 19 43872668T> C null I V 515 515 missense 0.014 benign 0.15 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs1568435599 19q13.31 19 43872664T> A null H L 516 516 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC rs746973292 19q13.31 19 43872661G> A null T I 517 517 missense 0.832 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs758308185 19q13.31 19 43872649G> A null P L 521 521 missense 0.975 probably damaging 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs750203015 19q13.31 19 43872639G> C null C W 524 524 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1322076845 19q13.31 19 43872638T> G null K Q 525 525 missense 0.782 possibly damaging 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ESP,ExAC,TOPMed,gnomAD rs200904232 19q13.31 19 43872637T> C null K R 525 525 missense 0.61 possibly damaging 0.05 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 Ensembl rs988831326 19q13.31 19 43872632A> G null C R 527 527 missense 0.014 benign 0.0 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1464995409 19q13.31 19 43872629C> T null G S 528 528 missense 0.903 possibly damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1365538773 19q13.31 19 43872622G> T null A D 530 530 missense 0.615 possibly damaging 0.07 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed,gnomAD rs1365538773 19q13.31 19 43872622G> A null A V 530 530 missense 0.024 benign 0.13 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs756344589 19q13.31 19 43872619A> C null F C 531 531 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,gnomAD rs752829082 19q13.31 19 43872613T> A null H L 533 533 missense 0.001 benign 0.58 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs759649004 19q13.31 19 43872607T> C null Y C 535 535 missense 0.015 benign 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1486508160 19q13.31 19 43872599T> C null S G 538 538 missense 0.047 benign 0.06 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 ExAC,TOPMed,gnomAD rs774770852 19q13.31 19 43872588T> G null Q H 541 541 missense 0.013 benign 0.11 tolerated 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1199752069 19q13.31 19 43872583A> G null F S 543 543 missense 0.409 benign 0.02 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 gnomAD rs1262496158 19q13.31 19 43872570C> G null E D 547 547 missense 0.005 benign 0.03 deleterious 0 A0A087WSV7 ZNF404 Zinc finger protein 404 TOPMed rs1268890435 19q13.31 19 43872556T> A null * L 552 552 stop lost 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs749021919 4q35.1 4 185018935G> C null D H 3 3 missense 0.525 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs778858039 4q35.1 4 185018941C> T null L F 5 5 missense 0.905 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs778858039 4q35.1 4 185018941C> G null L V 5 5 missense 0.649 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs747085781 4q35.1 4 185018951G> A null R H 8 8 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1164009540 4q35.1 4 185018950C> A null R S 8 8 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs768750800 4q35.1 4 185018954A> G null K R 9 9 missense 0.005 benign 0.22 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs776886319 4q35.1 4 185018957T> C null V A 10 10 missense 0.967 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs748354671 4q35.1 4 185018960G> A null S N 11 11 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs1561323646 4q35.1 4 185018962C> T null R W 12 12 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs140704135 4q35.1 4 185018969G> A null S N 14 14 missense 0.179 benign 0.01 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,gnomAD rs376873473 4q35.1 4 185018971C> A null P T 15 15 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs373884195 4q35.1 4 185018980A> G null T A 18 18 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC rs759013214 4q35.1 4 185018981C> T null T I 18 18 missense 0.001 benign 0.05 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113434704 4q35.1 4 185018985C> A null C * 19 19 2.0E-4 stop gained 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs372532625 4q35.1 4 185018983T> C null C R 19 19 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113434704 4q35.1 4 185018985C> G null C W 19 19 2.0E-4 missense 0.877 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs1554037870 4q35.1 4 185018987C> T null A V 20 20 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1409725042 4q35.1 4 185018992G> A null V M 22 22 missense 0.003 benign 0.48 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1416520000 4q35.1 4 185018996T> G null V G 23 23 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs993533412 4q35.1 4 185018995G> A null V M 23 23 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1208583637 4q35.1 4 185019001G> T null A S 25 25 missense 0.068 benign 0.01 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1254207834 4q35.1 4 185019002C> T null A V 25 25 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1444137729 4q35.1 4 185019011_185019012insCACGTGTCCTTTGAAGGGCCACGTGGATTAACAAAGCT G null S TCPLKGHVD* 28 29 stop gained 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs757032852 4q35.1 4 185019014C> T null P L 29 29 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs757032852 4q35.1 4 185019014C> G null P R 29 29 missense 0.001 benign 0.43 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC rs781243760 4q35.1 4 185019016A> C null T P 30 30 missense 0.022 benign 0.01 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144613350 4q35.1 4 185019020G> A null R H 31 31 5.99E-4 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144613350 4q35.1 4 185019020G> T null R L 31 31 5.99E-4 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144613350 4q35.1 4 185019020G> C null R P 31 31 5.99E-4 missense 0.015 benign 0.15 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs867377493 4q35.1 4 185019023A> C null H P 32 32 missense 0.013 benign 0.06 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs373985742 4q35.1 4 185019029G> A null G D 34 34 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs370254718 4q35.1 4 185019028G> A null G S 34 34 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs867182412 4q35.1 4 185019035C> A null P Q 36 36 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs760211093 4q35.1 4 185019040G> T null A S 38 38 missense 0.003 benign 0.16 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs141152896 4q35.1 4 185019044G> A null G E 39 39 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ExAC,TOPMed,gnomAD rs200165363 4q35.1 4 185019051C> A null C * 41 41 2.0E-4 stop gained 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1345611742 4q35.1 4 185019050G> C null C S 41 41 missense 0.0 benign 0.79 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs765067109 4q35.1 4 185019057C> G null H Q 43 43 missense 0.001 benign 0.25 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs758334326 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 4q35.1 4 185019058G> C null G R 44 44 missense 0.0 benign 0.13 tolerated - low confidence 1 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs758334326 4q35.1 4 185019058G> T null G W 44 44 missense 0.257 benign 0.01 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1180688167 4q35.1 4 185019061A> T null T S 45 45 missense 0.027 benign 0.21 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1239200102 4q35.1 4 185019068G> A null S N 47 47 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1454054165 4q35.1 4 185019069T> G null S R 47 47 missense 0.0 benign 0.24 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1379954290 4q35.1 4 185019073G> A null E K 49 49 missense 0.003 benign 0.42 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1466980147 4q35.1 4 185019074A> T null E V 49 49 missense 0.247 benign 0.11 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs752797227 4q35.1 4 185019077A> C null E A 50 50 missense 0.003 benign 0.15 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1434960848 4q35.1 4 185019079T> A null S T 51 51 missense 0.001 benign 0.41 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs754078746 4q35.1 4 185019388G> C null R T 54 54 missense 0.039 benign 0.03 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1479085765 4q35.1 4 185019391C> A null T N 55 55 missense 0.469 possibly damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1193802652 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4q35.1 4 185019393C> A null P T 56 56 missense 0.596 possibly damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs1561323994 4q35.1 4 185019396G> C null V L 57 57 missense 0.591 possibly damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1421709104 4q35.1 4 185019404T> A null H Q 59 59 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1248044783 4q35.1 4 185019409T> C null V A 61 61 missense 0.976 probably damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1350255059 4q35.1 4 185019413A> G null I M 62 62 missense 0.981 probably damaging 0.09 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs778951420 4q35.1 4 185019412T> C null I T 62 62 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1192474604 4q35.1 4 185019411A> G null I V 62 62 missense 0.871 possibly damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs746262594 4q35.1 4 185019421G> A null R Q 65 65 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1452705937 4q35.1 4 185019420C> T null R W 65 65 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs1561324024 4q35.1 4 185019424G> A null R K 66 66 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1378484343 4q35.1 4 185019428G> T null R S 67 67 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1265910939 4q35.1 4 185019433G> C null R T 69 69 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1315040401 4q35.1 4 185019442G> A null R H 72 72 missense 0.958 probably damaging 0.12 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1315040401 4q35.1 4 185019442G> T null R L 72 72 missense 0.882 possibly damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs772530362 4q35.1 4 185019445G> A null C Y 73 73 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1226380184 4q35.1 4 185019452C> A null N K 75 75 missense 0.681 possibly damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1298371906 4q35.1 4 185019459G> A null G S 78 78 missense 0.376 benign 0.21 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs780751274 4q35.1 4 185019469T> C null V A 81 81 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs780751274 4q35.1 4 185019469T> G null V G 81 81 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1217927826 4q35.1 4 185019468G> A null V M 81 81 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1414140189 4q35.1 4 185019475T> A null M K 83 83 missense 0.288 benign 0.07 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1183248119 4q35.1 4 185019474A> G null M V 83 83 missense 0.113 benign 0.11 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1172655343 4q35.1 4 185019625G> A null G D 89 89 missense 0.092 benign 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs199980242 4q35.1 4 185019631C> A null P H 91 91 missense 0.2 benign 0.01 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs943388947 4q35.1 4 185019634A> T null Q L 92 92 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1004191025 4q35.1 4 185019639G> A null A T 94 94 missense 0.067 benign 0.12 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1035342966 4q35.1 4 185019643T> C null L P 95 95 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1478979679 4q35.1 4 185019645G> A null A T 96 96 missense 0.175 benign 0.14 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs759271784 4q35.1 4 185019648C> T null Q * 97 97 stop gained 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1168601021 4q35.1 4 185019654C> G null R G 99 99 missense 0.0 benign 0.54 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs767518145 4q35.1 4 185019655G> T null R L 99 99 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs775257676 4q35.1 4 185019659C> A null S R 100 100 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1021202473 4q35.1 4 185019660C> T null R C 101 101 missense 0.492 possibly damaging 0.1 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs765215663 4q35.1 4 185019661G> A null R H 101 101 missense 0.418 benign 0.06 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1021202473 4q35.1 4 185019660C> A null R S 101 101 missense 0.003 benign 0.68 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs750740770 4q35.1 4 185019666C> G null R G 103 103 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1275904465 4q35.1 4 185019667G> T null R L 103 103 missense 0.007 benign 0.19 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs750740770 4q35.1 4 185019666C> A null R S 103 103 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs758698183 4q35.1 4 185019670C> A null S * 104 104 stop gained 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes rs568935673 4q35.1 4 185019673T> C null L P 105 105 3.99E-4 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1318215865 4q35.1 4 185019676T> A null V D 106 106 missense 0.329 benign 0.64 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1318215865 4q35.1 4 185019676T> G null V G 106 106 missense 0.099 benign 0.49 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1461127080 4q35.1 4 185019678C> T null L F 107 107 missense 0.003 benign 0.73 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1360565549 4q35.1 4 185019685G> A null S N 109 109 missense 0.015 benign 0.2 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ExAC,TOPMed,gnomAD rs550202330 4q35.1 4 185019687G> T null A S 110 110 3.99E-4 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs921746821 4q35.1 4 185019691C> T null T I 111 111 missense 0.025 benign 0.09 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1453047494 4q35.1 4 185019694T> C null V A 112 112 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1222230717 4q35.1 4 185019697C> A null P H 113 113 missense 0.232 benign 0.01 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs568316271 4q35.1 4 185019701C> A null D E 114 114 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1181645448 4q35.1 4 185019705C> A null Q K 116 116 missense 0.003 benign 0.48 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC rs781744007 4q35.1 4 185019709C> A null A E 117 117 missense 0.13 benign 0.11 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC rs781744007 4q35.1 4 185019709C> T null A V 117 117 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs777264333 4q35.1 4 185019711C> G null L V 118 118 missense 0.0 benign 0.19 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1184496194 4q35.1 4 185019715G> A null G D 119 119 missense 0.014 benign 0.15 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs748734436 4q35.1 4 185019718G> T null R L 120 120 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs770586524 4q35.1 4 185019724A> C null E A 122 122 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs770586524 4q35.1 4 185019724A> G null E G 122 122 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs778491300 4q35.1 4 185019726G> A null G R 123 123 missense 0.028 benign 0.2 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs778491300 4q35.1 4 185019726G> C null G R 123 123 missense 0.028 benign 0.2 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs745712933 4q35.1 4 185019727G> T null G V 123 123 missense 0.028 benign 0.14 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs778491300 4q35.1 4 185019726G> T null G W 123 123 missense 0.449 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs200914502 4q35.1 4 185019729C> G null P A 124 124 missense 0.067 benign 0.09 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs760522188 4q35.1 4 185019730C> T null P L 124 124 missense 0.01 benign 0.16 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs200914502 4q35.1 4 185019729C> A null P T 124 124 missense 0.003 benign 0.06 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs866183361 4q35.1 4 185019736T> A null L H 126 126 missense 0.811 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs773438896 4q35.1 4 185019738C> T null L F 127 127 missense 0.005 benign 0.22 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs868268696 4q35.1 4 185019744C> T null Q * 129 129 stop gained 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1284389985 4q35.1 4 185019748G> T null S I 130 130 missense 0.422 benign 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs770605765 4q35.1 4 185019751C> T null S F 131 131 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs766737621 4q35.1 4 185019757A> G null K R 133 133 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1218656972 4q35.1 4 185019760T> C null L P 134 134 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ExAC,gnomAD rs192189744 4q35.1 4 185019762G> A null E K 135 135 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ExAC,gnomAD rs192189744 4q35.1 4 185019762G> C null E Q 135 135 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs753315506 4q35.1 4 185019769C> A null A E 137 137 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs767759834 4q35.1 4 185019768G> A null A T 137 137 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs753315506 4q35.1 4 185019769C> T null A V 137 137 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1459224083 4q35.1 4 185019781A> G null E G 141 141 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs756586742 4q35.1 4 185019785G> C null M I 142 142 missense 0.933 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs918475104 4q35.1 4 185019787C> T null T I 143 143 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1164672196 4q35.1 4 185019795T> C null Y H 146 146 missense 0.826 possibly damaging 0.88 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1078461 4q35.1 4 185019798C> G null L V 147 147 0.1116 missense 0.866 possibly damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs983944166 4q35.1 4 185019805C> T null A V 149 149 missense 0.285 benign 0.21 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs372860858 4q35.1 4 185019812C> G null H Q 151 151 missense 0.151 benign 0.24 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ExAC,TOPMed,gnomAD rs538685547 4q35.1 4 185019816G> C null A P 153 153 2.0E-4 missense 0.307 benign 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ExAC,TOPMed,gnomAD rs538685547 4q35.1 4 185019816G> T null A S 153 153 2.0E-4 missense 0.007 benign 0.09 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ExAC,TOPMed,gnomAD rs538685547 4q35.1 4 185019816G> A null A T 153 153 2.0E-4 missense 0.009 benign 0.16 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1385066719 4q35.1 4 185019817C> T null A V 153 153 missense 0.02 benign 0.03 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1395000620 4q35.1 4 185019822T> C null F L 155 155 missense 0.003 benign 0.2 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147187823 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 4q35.1 4 185019825C> T null P S 156 156 2.0E-4 missense 0.066 benign 0.09 tolerated 1 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs1039086977 4q35.1 4 185019829G> C null R P 157 157 missense 0.742 possibly damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs771965283 4q35.1 4 185019828C> T null R W 157 157 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs1561324406 4q35.1 4 185019835G> C null R T 159 159 missense 0.503 possibly damaging 0.17 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs963852800 4q35.1 4 185020275G> A null E K 163 163 missense 0.093 benign 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1318881889 4q35.1 4 185020276A> T null E V 163 163 missense 0.093 benign 0.03 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs976526462 4q35.1 4 185020282T> C null L P 165 165 missense 0.777 possibly damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1397724693 4q35.1 4 185020281C> G null L V 165 165 missense 0.526 possibly damaging 0.05 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs140544289 4q35.1 4 185020285C> A null A E 166 166 missense 0.062 benign 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs140544289 4q35.1 4 185020285C> G null A G 166 166 missense 0.218 benign 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs775744003 4q35.1 4 185020288A> T null E V 167 167 missense 0.221 benign 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs1561324681 4q35.1 4 185020296A> C null N H 170 170 missense 0.284 benign 0.11 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1389192405 4q35.1 4 185020297A> G null N S 170 170 missense 0.436 benign 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1355917106 4q35.1 4 185020299T> C null Y H 171 171 missense 0.755 possibly damaging 0.06 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1385008782 4q35.1 4 185020306A> G null H R 173 173 missense 0.082 benign 0.2 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1476091886 4q35.1 4 185020309A> G null Y C 174 174 missense 0.955 probably damaging 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs764425587 4q35.1 4 185020316C> A null Y * 176 176 stop gained 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs777184573 4q35.1 4 185020319C> A null H Q 177 177 missense 0.471 possibly damaging 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1277606638 4q35.1 4 185020320G> A null E K 178 178 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs762307982 4q35.1 4 185020329A> C null K Q 181 181 missense 0.981 probably damaging 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs749922817 4q35.1 4 185020338G> C null V L 184 184 missense 0.151 benign 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs749922817 4q35.1 4 185020338G> A null V M 184 184 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs765985703 4q35.1 4 185020351C> T null T I 188 188 missense 0.503 possibly damaging 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,gnomAD rs373092685 4q35.1 4 185020354C> A null T K 189 189 missense 0.965 probably damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC rs142885726 4q35.1 4 185020360A> G null E G 191 191 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs371797374 4q35.1 4 185020362C> G null R G 192 192 missense 0.042 benign 0.64 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs756137886 4q35.1 4 185020363G> A null R Q 192 192 missense 0.053 benign 0.21 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,gnomAD rs376827438 4q35.1 4 185020366T> C null M T 193 193 missense 0.212 benign 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs968446426 4q35.1 4 185020368G> A null E K 194 194 missense 0.867 possibly damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs775629852 4q35.1 4 185020380A> G null T A 198 198 missense 0.567 possibly damaging 0.15 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs768797505 4q35.1 4 185020384A> G null K R 199 199 missense 0.151 benign 0.1 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs776990372 4q35.1 4 185020386T> C null Y H 200 200 missense 0.987 probably damaging 0.14 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1265749769 4q35.1 4 185020389G> A null A T 201 201 missense 0.941 probably damaging 0.03 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,NCI-TCGA,TOPMed,gnomAD rs762115587 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4q35.1 4 185020390C> T null A V 201 201 missense 0.391 benign 0.31 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs867105445 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 4q35.1 4 185020393G> A null R H 202 202 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1192593721 4q35.1 4 185020395A> G null I V 203 203 missense 0.479 possibly damaging 0.09 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1216476198 4q35.1 4 185020411A> G null Q R 208 208 missense 0.682 possibly damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs751323930 4q35.1 4 185020414C> T null S F 209 209 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs751323930 4q35.1 4 185020414C> A null S Y 209 209 missense 0.981 probably damaging 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs767222911 4q35.1 4 185020422C> T null R C 212 212 missense 0.987 probably damaging 0.05 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs752564748 4q35.1 4 185020423G> T null R L 212 212 missense 0.855 possibly damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs767222911 4q35.1 4 185020422C> A null R S 212 212 missense 0.855 possibly damaging 0.06 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs940314378 4q35.1 4 185020426T> G null L R 213 213 missense 0.705 possibly damaging 0.06 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1385575943 4q35.1 4 185020432C> G null A G 215 215 missense 0.001 benign 0.13 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148495344 4q35.1 4 185020431G> T null A S 215 215 2.0E-4 missense 0.071 benign 0.09 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs758470672 4q35.1 4 185020434G> A null E K 216 216 missense 0.301 benign 0.08 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs758470672 4q35.1 4 185020434G> C null E Q 216 216 missense 0.454 possibly damaging 0.09 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs780182208 4q35.1 4 185020438C> A null P H 217 217 missense 0.958 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1156387074 4q35.1 4 185020437C> T null P S 217 217 missense 0.217 benign 0.09 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs768887434 4q35.1 4 185020440G> T null A S 218 218 missense 0.017 benign 0.21 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs369690789 4q35.1 4 185020441C> T null A V 218 218 missense 0.0 benign 0.32 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs142803398 4q35.1 4 185020446C> G null P A 220 220 missense 0.0 benign 0.32 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs773651805 4q35.1 4 185020447C> T null P L 220 220 missense 0.024 benign 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs773651805 4q35.1 4 185020447C> A null P Q 220 220 missense 0.003 benign 0.53 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs771277911 4q35.1 4 185020450C> T null P L 221 221 missense 0.575 possibly damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ExAC,gnomAD rs574289723 4q35.1 4 185020449C> T null P S 221 221 2.0E-4 missense 0.042 benign 0.4 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs767312891 4q35.1 4 185020455G> T null G C 223 223 missense 0.817 possibly damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs767312891 4q35.1 4 185020455G> A null G S 223 223 missense 0.194 benign 0.05 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs760440459 4q35.1 4 185020465C> T null P L 226 226 missense 0.632 possibly damaging 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs760440459 4q35.1 4 185020465C> G null P R 226 226 missense 0.818 possibly damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1286242085 4q35.1 4 185020467G> A null E K 227 227 missense 0.3 benign 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed rs201119866 4q35.1 4 185020471C> G null P R 228 228 missense 0.431 benign 0.05 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1009521926 4q35.1 4 185020474A> G null D G 229 229 missense 0.092 benign 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs753505550 4q35.1 4 185020473G> A null D N 229 229 missense 0.629 possibly damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1022601279 4q35.1 4 185020483A> G null Y C 232 232 missense 0.001 benign 0.16 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1412229870 4q35.1 4 185020482T> C null Y H 232 232 missense 0.001 benign 0.13 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs757229622 4q35.1 4 185020489T> C null L P 234 234 missense 0.081 benign 0.05 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs778770972 4q35.1 4 185020498C> A null A E 237 237 missense 0.247 benign 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs778770972 4q35.1 4 185020498C> T null A V 237 237 missense 0.11 benign 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs755017395 4q35.1 4 185020500G> C null G R 238 238 missense 0.289 benign 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs755017395 4q35.1 4 185020500G> A null G R 238 238 missense 0.289 benign 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs748356291 4q35.1 4 185020501G> T null G V 238 238 missense 0.084 benign 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs778204062 4q35.1 4 185020503C> T null P S 239 239 missense 0.951 probably damaging 0.07 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs771492911 4q35.1 4 185020506G> A null E K 240 240 missense 0.248 benign 0.12 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs771492911 4q35.1 4 185020506G> C null E Q 240 240 missense 0.629 possibly damaging 0.11 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs774961799 4q35.1 4 185020516G> A null G D 243 243 missense 0.122 benign 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ExAC,TOPMed,gnomAD rs533739548 4q35.1 4 185020521A> T null S C 245 245 2.0E-4 missense 0.533 possibly damaging 0.12 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs760376247 4q35.1 4 185020525C> G null P R 246 246 missense 0.737 possibly damaging 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs771689955 4q35.1 4 185020524C> T null P S 246 246 missense 0.031 benign 0.03 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs771689955 4q35.1 4 185020524C> A null P T 246 246 missense 0.253 benign 0.07 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184401555 4q35.1 4 185020528G> A null G D 247 247 3.99E-4 missense 0.057 benign 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs763591870 4q35.1 4 185020527G> C null G R 247 247 missense 0.14 benign 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs761474258 4q35.1 4 185020531A> G null E G 248 248 missense 0.169 benign 0.14 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT Ensembl rs1018161074 4q35.1 4 185020533G> A null A T 249 249 missense 0.833 possibly damaging 0.09 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs765197048 4q35.1 4 185020536G> T null A S 250 250 missense 0.003 benign 0.74 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs765197048 4q35.1 4 185020536G> A null A T 250 250 missense 0.005 benign 0.33 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs755107417 4q35.1 4 185020546C> G null P R 253 253 missense 0.229 benign 0.03 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1407163795 4q35.1 4 185020549A> G null Q R 254 254 missense 0.388 benign 0.09 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC rs767580422 4q35.1 4 185020551G> A null G S 255 255 missense 0.395 benign 0.19 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201439033 cosmic curated [Cosmic]: central_nervous_system pubmed:22832583,cosmic_study:379 4q35.1 4 185020554T> A null S T 256 256 3.99E-4 missense 0.026 benign 0.21 tolerated 1 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs777810182 4q35.1 4 185020558G> A null G D 257 257 missense 0.107 benign 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs756375365 4q35.1 4 185020557G> C null G R 257 257 missense 0.216 benign 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs777810182 4q35.1 4 185020558G> T null G V 257 257 missense 0.058 benign 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1274716838 4q35.1 4 185020560G> C null A P 258 258 missense 0.0 benign 1.0 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs967610612 4q35.1 4 185020563G> A null G R 259 259 missense 0.999 probably damaging 0.05 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs967610612 4q35.1 4 185020563G> C null G R 259 259 missense 0.999 probably damaging 0.05 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1438131532 4q35.1 4 185020576G> A null W * 263 263 stop gained 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs779616003 4q35.1 4 185020575T> C null W R 263 263 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1220544462 4q35.1 4 185020578C> T null P S 264 264 missense 0.986 probably damaging 0.02 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs772636701 4q35.1 4 185020582C> G null P R 265 265 missense 0.001 benign 0.16 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs746452138 4q35.1 4 185020591C> T null A V 268 268 missense 0.162 benign 0.06 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs776114716 4q35.1 4 185020593C> T null R C 269 269 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs776114716 4q35.1 4 185020593C> G null R G 269 269 missense 0.873 possibly damaging 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1031466181 4q35.1 4 185020594G> T null R L 269 269 missense 0.533 possibly damaging 0.03 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs776114716 4q35.1 4 185020593C> A null R S 269 269 missense 0.873 possibly damaging 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1460722407 4q35.1 4 185020596A> G null S G 270 270 missense 0.112 benign 0.07 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs765002982 4q35.1 4 185020597G> C null S T 270 270 missense 0.152 benign 0.19 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1240249242 4q35.1 4 185020600C> G null P R 271 271 missense 0.997 probably damaging 0.05 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs565407648 4q35.1 4 185020603C> A null A E 272 272 missense 0.056 benign 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs547106023 4q35.1 4 185020602G> A null A T 272 272 missense 0.0 benign 0.23 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs565407648 4q35.1 4 185020603C> T null A V 272 272 missense 0.015 benign 0.22 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1447364895 4q35.1 4 185020608C> T null P S 274 274 missense 0.003 benign 0.14 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs766247084 4q35.1 4 185020614C> G null L V 276 276 missense 0.978 probably damaging 0.14 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs752845840 4q35.1 4 185020617C> T null P S 277 277 missense 0.054 benign 0.11 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs376623238 4q35.1 4 185020620A> G null S G 278 278 missense 0.095 benign 0.15 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs764420239 4q35.1 4 185020622C> A null S R 278 278 missense 0.446 possibly damaging 0.03 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs376623238 4q35.1 4 185020620A> C null S R 278 278 missense 0.446 possibly damaging 0.03 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1223077868 4q35.1 4 185020624C> T null A V 279 279 missense 0.206 benign 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs753988248 4q35.1 4 185020626C> G null P A 280 280 missense 0.0 benign 0.45 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs757758462 4q35.1 4 185020630T> G null V G 281 281 missense 0.185 benign 0.03 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs539123900 4q35.1 4 185020629G> C null V L 281 281 missense 0.037 benign 0.1 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs958074332 4q35.1 4 185020633C> G null P R 282 282 missense 0.281 benign 0.05 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs758991645 4q35.1 4 185020641A> G null S G 285 285 missense 0.084 benign 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs780383731 4q35.1 4 185020642G> T null S I 285 285 missense 0.312 benign 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs746567299 4q35.1 4 185020643C> A null S R 285 285 missense 0.383 benign 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs768027767 4q35.1 4 185020644C> T null P S 286 286 missense 0.494 possibly damaging 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1319678555 4q35.1 4 185020648C> A null A E 287 287 missense 0.182 benign 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs776403096 4q35.1 4 185020651A> C null Q P 288 288 missense 0.0 benign 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC rs769369992 4q35.1 4 185020660G> C null S T 291 291 missense 0.34 benign 0.15 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs773004563 4q35.1 4 185020662C> G null P A 292 292 missense 0.001 benign 0.08 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs762689040 4q35.1 4 185020667C> G null F L 293 293 missense 0.423 benign 0.01 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs746506321 4q35.1 4 185020675C> T null P L 296 296 missense 0.357 benign 0.0 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs746506321 4q35.1 4 185020675C> A null P Q 296 296 missense 0.054 benign 0.04 deleterious 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1285292426 4q35.1 4 185020674C> T null P S 296 296 missense 0.018 benign 0.16 tolerated 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs916565621 4q35.1 4 185020687T> C null L P 300 300 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1203523638 4q35.1 4 185020686C> G null L V 300 300 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ExAC,TOPMed,gnomAD rs562479325 4q35.1 4 185020690A> C null D A 301 301 2.0E-4 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT 1000Genomes,ExAC,TOPMed,gnomAD rs562479325 4q35.1 4 185020690A> G null D G 301 301 2.0E-4 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1291977566 4q35.1 4 185020696A> T null H L 303 303 missense 0.838 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1446888345 4q35.1 4 185020701C> T null L F 305 305 missense 0.063 benign 0.08 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs140087517 4q35.1 4 185020712C> G null I M 308 308 missense 0.808 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1380271856 4q35.1 4 185020713G> T null G C 309 309 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1380271856 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4q35.1 4 185020713G> A null G S 309 309 missense 0.918 probably damaging 0.07 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1452231708 4q35.1 4 185020714G> T null G V 309 309 missense 0.96 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1159816360 4q35.1 4 185020717A> G null H R 310 310 missense 0.838 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1413555688 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 4q35.1 4 185020719G> A null A T 311 311 missense 0.001 benign 0.16 tolerated - low confidence 1 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed rs1490791243 4q35.1 4 185020720C> T null A V 311 311 missense 0.041 benign 0.01 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1407827665 4q35.1 4 185020722C> T null H Y 312 312 missense 0.469 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1453187532 4q35.1 4 185020726C> T null P L 313 313 missense 0.165 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1308232869 4q35.1 4 185020730C> G null N K 314 314 missense 0.247 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1374601721 4q35.1 4 185020732C> A null A D 315 315 missense 0.122 benign 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs765503573 4q35.1 4 185020734C> T null L F 316 316 missense 0.01 benign 0.41 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,gnomAD rs750845282 4q35.1 4 185020743C> A null H N 319 319 missense 0.169 benign 0.03 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs146842487 4q35.1 4 185020747C> A null T K 320 320 missense 0.066 benign 0.08 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs146842487 4q35.1 4 185020747C> T null T M 320 320 missense 0.374 benign 0.03 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs146842487 4q35.1 4 185020747C> G null T R 320 320 missense 0.169 benign 0.05 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT TOPMed,gnomAD rs1462801259 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4q35.1 4 185020750C> T null P L 321 321 missense 0.037 benign 0.01 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ESP,ExAC,TOPMed,gnomAD rs372856602 4q35.1 4 185020749C> T null P S 321 321 missense 0.001 benign 0.27 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1417882560 4q35.1 4 185020754G> T null Q H 322 322 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1237898976 4q35.1 4 185020753A> G null Q R 322 322 missense 0.953 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1184511834 4q35.1 4 185020755C> A null H N 323 323 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1184511834 4q35.1 4 185020755C> T null H Y 323 323 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs747600049 4q35.1 4 185020762C> T null P L 325 325 missense 0.028 benign 0.01 deleterious - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT ExAC,TOPMed,gnomAD rs747600049 4q35.1 4 185020762C> A null P Q 325 325 missense 0.007 benign 0.26 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1173626223 4q35.1 4 185020764G> A null V M 326 326 missense 0.037 benign 0.15 tolerated - low confidence 0 A0A087WSW0 HELT Hairy and enhancer of split-related protein HELT gnomAD rs1469954395 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4q35.1 4 185020767C> T null L F 327 327 missense 0.922 probably damaging 0.02 deleterious - low confidence 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1359174365 10q22.2 10 73354790G> A null Q * 3 3 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1359174365 10q22.2 10 73354790G> C null Q E 3 3 missense 0.254 benign 0.03 deleterious - low confidence 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1564896572 10q22.2 10 73354777G> T null A E 7 7 missense 0.015 benign 0.6 tolerated - low confidence 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs201908406 10q22.2 10 73354778C> G null A P 7 7 2.0E-4 missense 0.003 benign 0.36 tolerated - low confidence 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1374873566 10q22.2 10 73354775C> T null G S 8 8 missense 0.015 benign 0.07 tolerated - low confidence 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1479109647 10q22.2 10 73354766C> T null V M 11 11 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1192184510 10q22.2 10 73354762T> C null Q R 12 12 missense 0.086 benign 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs763086380 10q22.2 10 73354754C> T null V M 15 15 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs544051480 10q22.2 10 73354745C> T null G R 18 18 2.0E-4 missense 0.918 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs985861419 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 10q22.2 10 73354739C> T null D N 20 20 missense 0.007 benign 0.41 tolerated 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs746894035 10q22.2 10 73354734C> A null L F 21 21 missense 0.682 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1454091351 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73353733T> C null K E 25 25 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1316474910 10q22.2 10 73353721G> C null P A 29 29 missense 0.03 benign 0.7 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1260358972 10q22.2 10 73353720G> A null P L 29 29 missense 0.0 benign 0.87 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs751937679 10q22.2 10 73353717A> G null V A 30 30 missense 0.374 benign 0.12 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1219831862 10q22.2 10 73353718C> A null V F 30 30 missense 0.741 possibly damaging 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,NCI-TCGA,gnomAD rs199587364 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:414 10q22.2 10 73353706G> A null R * 34 34 2.0E-4 missense 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,NCI-TCGA,TOPMed,gnomAD rs144012531 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73353705C> T null R Q 34 34 missense 0.923 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs140163805 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:21720365,cosmic_study:331 10q22.2 10 73353703C> A null A S 35 35 missense 0.177 benign 0.06 tolerated 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1328461399 10q22.2 10 73353693T> C null N S 38 38 missense 0.888 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1444786508 10q22.2 10 73353691G> C null Q E 39 39 missense 0.108 benign 0.12 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes rs568780404 10q22.2 10 73353690T> C null Q R 39 39 2.0E-4 missense 0.201 benign 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs981745207 10q22.2 10 73353676C> T null D N 44 44 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1460911635 10q22.2 10 73353669G> A null A V 46 46 missense 0.118 benign 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,gnomAD rs765368156 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73353651G> A null P L 52 52 missense 0.013 benign 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs917904491 10q22.2 10 73353643T> C null S G 55 55 missense 0.003 benign 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs761988014 10q22.2 10 73353640C> T null A T 56 56 missense 0.194 benign 0.1 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs775507814 10q22.2 10 73353636T> A null K I 57 57 missense 0.646 possibly damaging 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs771956690 10q22.2 10 73353624G> C null T S 61 61 missense 0.118 benign 0.14 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs956694966 10q22.2 10 73353622T> C null S G 62 62 missense 0.034 benign 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs956694966 10q22.2 10 73353622T> G null S R 62 62 missense 0.193 benign 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs377226934 10q22.2 10 73353612T> C null E G 65 65 missense 0.548 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1564894330 10q22.2 10 73353603G> A null P L 68 68 missense 0.019 benign 0.42 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200584581 10q22.2 10 73353604G> A null P S 68 68 2.0E-4 missense 0.11 benign 0.27 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs774052376 cosmic curated [Cosmic]: endometrium cosmic_study:419 10q22.2 10 73353595C> G null G R 71 71 missense 0.851 possibly damaging 0.06 tolerated 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,TOPMed,gnomAD rs774052376 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 10q22.2 10 73353595C> T null G R 71 71 missense 0.851 possibly damaging 0.06 tolerated 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1288363931 10q22.2 10 73353591A> T null I N 72 72 missense 0.0 benign 0.64 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1230479071 10q22.2 10 73353582T> C null D G 75 75 missense 0.981 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs371049227 10q22.2 10 73353579T> C null D G 76 76 missense 0.37 benign 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs777411852 10q22.2 10 73353574C> T null A T 78 78 missense 0.971 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1379383658 10q22.2 10 73353571G> A null H Y 79 79 missense 0.213 benign 0.2 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs747715998 10q22.2 10 73353564G> A null P L 81 81 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs201275491 10q22.2 10 73353565G> A null P S 81 81 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs201275491 10q22.2 10 73353565G> T null P T 81 81 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs781662576 10q22.2 10 73353559A> G null F L 83 83 missense 0.007 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs751684509 10q22.2 10 73348516C> T null V M 86 86 missense 0.071 benign 0.21 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs369684634 10q22.2 10 73348500G> A null P L 91 91 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs768233862 10q22.2 10 73348501G> A null P S 91 91 missense 0.962 probably damaging 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1051034714 10q22.2 10 73348498T> C null K E 92 92 missense 0.735 possibly damaging 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs758631672 10q22.2 10 73348494T> C null E G 93 93 missense 0.983 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,gnomAD rs750871747 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73348490C> A null K N 94 94 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1171440701 10q22.2 10 73348491T> G null K T 94 94 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1192062973 10q22.2 10 73348489T> C null K E 95 95 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs779269397 10q22.2 10 73348486G> C null Q E 96 96 missense 0.942 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs764044120 10q22.2 10 73348472C> G null K N 100 100 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs760816640 10q22.2 10 73348459C> A null G C 105 105 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs751399095 10q22.2 10 73348452G> C null A G 107 107 missense 0.888 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs560043140 10q22.2 10 73348446A> G null V A 109 109 3.99E-4 missense 0.831 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs773031301 10q22.2 10 73348443T> C null D G 110 110 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1284346871 10q22.2 10 73348444C> G null D H 110 110 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs764848611 10q22.2 10 73348432A> T null L I 114 114 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1223431452 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 10q22.2 10 73348231C> A null Q H 118 118 missense 0.17 benign 0.0 deleterious 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1344376826 10q22.2 10 73348232T> C null Q R 118 118 missense 0.021 benign 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1261873753 10q22.2 10 73348229C> A null S I 119 119 missense 0.001 benign 0.34 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs759134346 10q22.2 10 73348228A> T null S R 119 119 missense 0.07 benign 0.36 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs865889623 10q22.2 10 73348226G> A null S L 120 120 missense 0.164 benign 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1302123744 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73293283C> T null A T 123 123 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs534183513 10q22.2 10 73348212C> T null V I 125 125 3.99E-4 missense 0.02 benign 0.16 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1161405439 10q22.2 10 73348200G> C null P A 129 129 missense 0.007 benign 0.8 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1378706222 10q22.2 10 73348187G> A null S L 133 133 missense 0.993 probably damaging 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs891193427 10q22.2 10 73348185G> A null P S 134 134 missense 0.786 possibly damaging 0.17 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs187667449 10q22.2 10 73348179C> G null E Q 136 136 2.0E-4 missense 0.981 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs773675243 10q22.2 10 73348175G> A null T I 137 137 missense 0.04 benign 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs770078123 10q22.2 10 73348170T> C null R G 139 139 missense 0.055 benign 0.25 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs748363975 10q22.2 10 73348169C> G null R T 139 139 missense 0.055 benign 0.52 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1564884169 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 10q22.2 10 73348160G> A null A V 142 142 missense 0.0 benign 0.36 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1265582888 10q22.2 10 73348156C> A null K N 143 143 missense 0.814 possibly damaging 0.1 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1269656780 10q22.2 10 73348157T> C null K R 143 143 missense 0.135 benign 0.1 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,gnomAD rs780152983 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73345232C> T null E K 148 148 missense 0.309 benign 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs780152983 10q22.2 10 73345232C> G null E Q 148 148 missense 0.588 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs910709192 10q22.2 10 73345222A> G null V A 151 151 missense 0.414 benign 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs964993020 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73345223C> T null V I 151 151 missense 0.215 benign 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1467409516 10q22.2 10 73345218T> G null L F 152 152 missense 0.0 benign 0.17 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs777587309 10q22.2 10 73345207G> A null P L 156 156 missense 0.856 possibly damaging 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1156714900 10q22.2 10 73345195G> A null T I 160 160 missense 0.045 benign 0.09 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,TOPMed rs200244105 10q22.2 10 73345186A> G null I T 163 163 3.99E-4 missense 0.05 benign 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1476787249 10q22.2 10 73345181C> T null G R 165 165 missense 0.157 benign 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs752609564 10q22.2 10 73345177C> T null G D 166 166 missense 0.448 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs752609564 10q22.2 10 73345177C> A null G V 166 166 missense 0.535 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1201770188 10q22.2 10 73345174T> C null N S 167 167 missense 0.083 benign 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1218620924 10q22.2 10 73345165T> C null K R 170 170 missense 0.003 benign 0.37 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,gnomAD rs751280782 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73345163C> T null V I 171 171 missense 0.003 benign 0.24 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1347961879 10q22.2 10 73345159G> A null T M 172 172 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs757852879 10q22.2 10 73345156A> G null L S 173 173 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1256972275 10q22.2 10 73345153T> A null E V 174 174 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1424588828 10q22.2 10 73345151C> G null A P 175 175 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed rs141866204 10q22.2 10 73345144T> A null Y F 177 177 missense 0.42 benign 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs765720352 10q22.2 10 73345139C> G null V L 179 179 missense 0.18 benign 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs765720352 10q22.2 10 73345139C> T null V M 179 179 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1406606794 10q22.2 10 73345135G> C null P R 180 180 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs762233467 10q22.2 10 73345136G> A null P S 180 180 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1330409430 10q22.2 10 73345131T> G null E D 181 181 missense 0.033 benign 0.24 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs184423319 10q22.2 10 73345118T> C null T A 186 186 2.0E-4 missense 0.003 benign 0.39 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1168368621 10q22.2 10 73345115C> G null G R 187 187 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs775717185 10q22.2 10 73345112G> A null P S 188 188 missense 0.957 probably damaging 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1227482928 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 10q22.2 10 73345108C> T null G E 189 189 missense 0.013 benign 0.28 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs979872716 10q22.2 10 73345106G> A null Q * 190 190 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1442515505 10q22.2 10 73345095C> A null M I 193 193 missense 0.033 benign 0.11 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs772120628 10q22.2 10 73345097T> C null M V 193 193 missense 0.007 benign 0.37 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,TOPMed,gnomAD rs779184777 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73291688C> T null D N 197 197 missense 0.376 benign 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1355861803 10q22.2 10 73345075G> A null S L 200 200 missense 0.003 benign 0.32 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1196787138 10q22.2 10 73345076A> T null S T 200 200 missense 0.055 benign 0.18 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1282668167 10q22.2 10 73345073G> A null L F 201 201 missense 0.02 benign 0.14 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs774344724 10q22.2 10 73341576G> C null D E 205 205 missense 0.022 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1424882975 10q22.2 10 73341578C> A null D Y 205 205 missense 0.931 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs771069823 10q22.2 10 73341574T> C null Y C 206 206 missense 0.062 benign 0.17 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1421013437 10q22.2 10 73341571G> T null P H 207 207 missense 0.8 possibly damaging 0.12 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs894333355 10q22.2 10 73341569T> C null I V 208 208 missense 0.003 benign 0.45 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,gnomAD rs373773869 10q22.2 10 73341558C> A null K N 211 211 missense 0.554 possibly damaging 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1164541666 10q22.2 10 73341559T> C null K R 211 211 missense 0.632 possibly damaging 0.16 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1164541666 10q22.2 10 73341559T> G null K T 211 211 missense 0.057 benign 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1429458882 10q22.2 10 73341556T> A null N I 212 212 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1429458882 10q22.2 10 73341556T> C null N S 212 212 missense 0.693 possibly damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs868749938 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73341554C> T null G R 213 213 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1245332720 10q22.2 10 73341545T> G null K Q 216 216 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs746855416 10q22.2 10 73341544T> C null K R 216 216 missense 0.788 possibly damaging 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1490565747 10q22.2 10 73341532T> C null E G 220 220 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs758022732 10q22.2 10 73341523G> T null P H 223 223 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs779749768 10q22.2 10 73341524G> T null P T 223 223 missense 0.948 probably damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1306301088 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:376 10q22.2 10 73291412G> A null R * 224 224 missense 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs140360144 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73291411C> T null R Q 224 224 2.0E-4 missense 0.187 benign 0.88 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs756791034 10q22.2 10 73341514C> T null R Q 226 226 missense 0.637 possibly damaging 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs773903835 cosmic curated [Cosmic]: pancreas cosmic_study:328 10q22.2 10 73341515G> A null R W 226 226 missense 0.998 probably damaging 0.0 deleterious 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs778264256 10q22.2 10 73341509T> G null K Q 228 228 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,NCI-TCGA,TOPMed,gnomAD rs143013340 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73291394G> A null H Y 230 230 missense 0.78 possibly damaging 0.18 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs752101207 10q22.2 10 73341497T> C null I V 232 232 missense 0.026 benign 0.54 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1401227088 10q22.2 10 73341478G> A null P L 238 238 missense 0.816 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1564872273 10q22.2 10 73341475C> T null G E 239 239 missense 0.974 probably damaging 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs888917369 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73291366C> T null R Q 239 239 missense 0.0 benign 0.75 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs141991496 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 10q22.2 10 73291367G> A null R W 239 239 missense 0.394 benign 0.02 deleterious 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1345266853 10q22.2 10 73341470T> C null N D 241 241 missense 0.055 benign 0.57 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1174815663 10q22.2 10 73341468A> T null N K 241 241 missense 0.055 benign 0.83 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1554921929 10q22.2 10 73341465G> C null N K 242 242 missense 0.528 possibly damaging 0.27 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1423731793 10q22.2 10 73341458C> T null D N 245 245 missense 0.099 benign 0.72 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs955095035 10q22.2 10 73341455C> A null A S 246 246 missense 0.003 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs759628980 10q22.2 10 73341448A> G null I T 248 248 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs972547977 10q22.2 10 73341440C> A null G C 251 251 missense 0.987 probably damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs545659428 10q22.2 10 73341437G> C null P A 252 252 2.0E-4 missense 0.524 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs776698694 10q22.2 10 73341428C> A null E * 255 255 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs768778514 10q22.2 10 73341425C> A null E * 256 256 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs768778514 10q22.2 10 73341425C> T null E K 256 256 missense 0.851 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1223837902 10q22.2 10 73341421T> C null E G 257 257 missense 0.015 benign 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1276143665 10q22.2 10 73341409T> C null N S 261 261 missense 0.55 possibly damaging 0.1 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1014959749 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 10q22.2 10 73291297C> G null R T 262 262 missense 0.0 benign 0.58 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1376283627 10q22.2 10 73341403G> A null P L 263 263 missense 0.392 benign 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,TOPMed,gnomAD rs755378516 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73335518C> T null E K 267 267 missense 0.024 benign 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs751677440 10q22.2 10 73335509T> C null N D 270 270 missense 0.039 benign 0.63 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs751677440 10q22.2 10 73335509T> G null N H 270 270 missense 0.367 benign 0.16 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371772511 10q22.2 10 73335507A> T null N K 270 270 3.99E-4 missense 0.039 benign 0.93 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs763117809 10q22.2 10 73335497A> G null C R 274 274 missense 0.052 benign 0.12 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs750568859 10q22.2 10 73335496C> G null C S 274 274 missense 0.0 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs146510765 10q22.2 10 73335494T> G null I L 275 275 missense 0.0 benign 0.51 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1329684672 10q22.2 10 73335493A> G null I T 275 275 missense 0.0 benign 0.67 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs146510765 10q22.2 10 73335494T> C null I V 275 275 missense 0.006 benign 0.47 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed,gnomAD rs143624991 10q22.2 10 73335488T> C null K E 277 277 missense 0.387 benign 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs773978007 10q22.2 10 73335463C> T null S N 285 285 missense 0.549 possibly damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1293127261 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 10q22.2 10 73335461G> A null R C 286 286 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs748775611 10q22.2 10 73335453G> T null Y * 288 288 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs367862049 10q22.2 10 73335448T> C null D G 290 290 missense 0.502 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1236318405 10q22.2 10 73335443A> G null S P 292 292 missense 0.0 benign 0.39 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1382403474 10q22.2 10 73335439G> A null A V 293 293 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs748541056 10q22.2 10 73335437C> T null V M 294 294 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1218918161 10q22.2 10 73335433A> C null V G 295 295 missense 0.024 benign 0.31 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1419739493 cosmic curated [Cosmic]: kidney cosmic_study:416 10q22.2 10 73335431T> C null S G 296 296 missense 0.293 benign 0.18 tolerated 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed,gnomAD rs368739865 10q22.2 10 73331266G> A null R * 300 300 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs769131697 10q22.2 10 73331265C> T null R Q 300 300 missense 0.142 benign 0.09 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs867895890 10q22.2 10 73331259G> A null A V 302 302 missense 0.813 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs747754628 10q22.2 10 73331257C> T null D N 303 303 missense 0.647 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1194483011 10q22.2 10 73331254A> C null C G 304 304 missense 0.655 possibly damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs769243601 cosmic curated [Cosmic]: small_intestine pubmed:23676460,cosmic_study:505 10q22.2 10 73331250C> T null R Q 305 305 missense 0.01 benign 0.17 tolerated 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,gnomAD rs777001340 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 10q22.2 10 73331251G> A null R W 305 305 missense 0.0 benign 0.0 deleterious 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1281213470 10q22.2 10 73331239C> T null V I 309 309 missense 0.971 probably damaging 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs758861482 10q22.2 10 73331229G> A null T I 312 312 missense 0.164 benign 0.13 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs780514078 10q22.2 10 73331230T> A null T S 312 312 missense 0.018 benign 0.63 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs746020283 10q22.2 10 73331226C> G null R T 313 313 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs757269044 10q22.2 10 73331224C> T null V I 314 314 missense 0.297 benign 0.11 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs376260900 10q22.2 10 73331221G> A null P S 315 315 missense 1.0 probably damaging 0.21 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1372472504 10q22.2 10 73331212T> C null T A 318 318 missense 0.0 benign 0.45 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1263194769 10q22.2 10 73331208A> T null I K 319 319 missense 0.007 benign 0.22 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1263194769 10q22.2 10 73331208A> G null I T 319 319 missense 0.003 benign 0.34 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115885173 10q22.2 10 73331205G> T null P H 320 320 0.003594 missense 0.322 benign 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115885173 10q22.2 10 73331205G> A null P L 320 320 0.003594 missense 0.037 benign 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs965016846 10q22.2 10 73331194C> A null A S 324 324 missense 0.001 benign 0.63 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1174062917 10q22.2 10 73331193G> A null A V 324 324 missense 0.0 benign 0.2 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1017536115 10q22.2 10 73331190C> A null G V 325 325 missense 0.634 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1468901404 10q22.2 10 73331188T> C null K E 326 326 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs530975997 10q22.2 10 73331187T> C null K R 326 326 2.0E-4 missense 0.998 probably damaging 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs772842116 10q22.2 10 73331178T> C null K R 329 329 missense 0.282 benign 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs749496549 10q22.2 10 73323087T> G null E A 333 333 missense 0.784 possibly damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs749496549 10q22.2 10 73323087T> A null E V 333 333 missense 0.925 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1025642316 10q22.2 10 73323085C> G null A P 334 334 missense 0.019 benign 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs777869852 10q22.2 10 73323084G> A null A V 334 334 missense 0.0 benign 0.25 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1228166234 10q22.2 10 73323082G> A null Q * 335 335 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,TOPMed,gnomAD rs751444822 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73323075G> A null S L 337 337 missense 0.306 benign 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1165362803 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 10q22.2 10 73278183C> A null K N 337 337 missense 0.913 probably damaging 0.15 tolerated 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs758187257 10q22.2 10 73323071A> C null F L 338 338 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs764771867 10q22.2 10 73323066C> G null G A 340 340 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1398113273 10q22.2 10 73323060G> A null A V 342 342 missense 0.998 probably damaging 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs753460255 10q22.2 10 73323050A> T null N K 345 345 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1457152678 10q22.2 10 73323051T> C null N S 345 345 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,gnomAD rs551423264 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:376 10q22.2 10 73277340G> T null S * 346 346 missense 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs866937823 10q22.2 10 73323042G> A null P L 348 348 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs763590202 10q22.2 10 73323031G> A null P S 352 352 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs904719105 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73277320C> T null G S 353 353 missense 0.0 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs895299213 10q22.2 10 73323019T> C null R G 356 356 missense 0.193 benign 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs200222729 10q22.2 10 73323012C> T null R Q 358 358 2.0E-4 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,TOPMed,gnomAD rs772771453 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 10q22.2 10 73323013G> A null R W 358 358 missense 0.998 probably damaging 0.0 deleterious 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1460728864 10q22.2 10 73323004A> G null F L 361 361 missense 0.831 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,gnomAD rs754396063 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73277292G> A null T I 362 362 missense 0.001 benign 0.2 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes rs185972978 10q22.2 10 73323000T> C null H R 362 362 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs771232913 10q22.2 10 73322994T> C null Y C 364 364 missense 0.619 possibly damaging 0.13 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs777871512 10q22.2 10 73322991G> A null P L 365 365 missense 0.919 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1011917401 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73277278C> T null E K 367 367 missense 0.031 benign 0.63 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1360006280 10q22.2 10 73322977C> T null V I 370 370 missense 0.021 benign 0.1 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140368528 10q22.2 10 73322971G> A null H Y 372 372 2.0E-4 missense 0.0 benign 0.53 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl,NCI-TCGA rs267602573 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73322968C> T null E K 373 373 missense 0.962 probably damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs533296760 10q22.2 10 73322965T> C null K E 374 374 2.0E-4 missense 0.804 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs533296760 10q22.2 10 73322965T> G null K Q 374 374 2.0E-4 missense 0.729 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1294562300 10q22.2 10 73312637A> G null C R 377 377 missense 0.015 benign 0.43 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs759087268 10q22.2 10 73312636C> T null C Y 377 377 missense 0.373 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1049348527 10q22.2 10 73312623C> A null L F 381 381 missense 0.55 possibly damaging 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1049348527 10q22.2 10 73312623C> G null L F 381 381 missense 0.55 possibly damaging 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs528996210 10q22.2 10 73312618C> T null R Q 383 383 3.99E-4 missense 0.007 benign 0.1 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,TOPMed,gnomAD rs761035849 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73312619G> A null R W 383 383 missense 0.704 possibly damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs193197993 10q22.2 10 73312615T> C null D G 384 384 7.99E-4 missense 0.338 benign 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs752429821 10q22.2 10 73312610C> T null G S 386 386 missense 0.036 benign 0.68 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1321145944 10q22.2 10 73312605A> T null H Q 387 387 missense 0.368 benign 0.64 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1285025860 10q22.2 10 73312604G> T null H N 388 388 missense 0.0 benign 0.36 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1222413190 10q22.2 10 73312598T> A null I F 390 390 missense 0.023 benign 0.14 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1339491190 10q22.2 10 73312594T> C null H R 391 391 missense 0.015 benign 0.53 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1267857185 10q22.2 10 73312592T> C null N D 392 392 missense 0.096 benign 0.62 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs752093675 10q22.2 10 73312582A> T null I K 395 395 missense 0.014 benign 0.66 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs752093675 10q22.2 10 73312582A> C null I R 395 395 missense 0.04 benign 0.43 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1564825073 10q22.2 10 73312574T> C null I V 398 398 missense 0.0 benign 0.67 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs766866421 10q22.2 10 73312567G> A null S F 400 400 missense 0.883 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,gnomAD rs766866421 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73312567G> T null S Y 400 400 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,gnomAD rs368424286 10q22.2 10 73312565G> C null L V 401 401 missense 0.003 benign 0.21 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1467117556 10q22.2 10 73312559A> C null S A 403 403 missense 0.001 benign 0.23 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs773500876 10q22.2 10 73312558G> A null S F 403 403 missense 0.166 benign 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1480868258 10q22.2 10 73312553G> T null Q K 405 405 missense 0.003 benign 0.65 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1238629957 10q22.2 10 73312552T> A null Q L 405 405 missense 0.0 benign 0.11 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1041547613 10q22.2 10 73312541T> C null K E 409 409 missense 0.887 possibly damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs535829671 10q22.2 10 73312534A> G null L P 411 411 missense 0.0 benign 0.28 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1184803598 10q22.2 10 73312519G> A null P L 416 416 missense 0.014 benign 0.24 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs761980322 10q22.2 10 73312520G> A null P S 416 416 missense 0.003 benign 0.67 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP rs375706708 10q22.2 10 73312517C> G null V L 417 417 missense 0.015 benign 0.29 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1438677852 10q22.2 10 73312514T> C null K E 418 418 missense 0.994 probably damaging 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs981581878 10q22.2 10 73312500T> C null I M 422 422 missense 0.0 benign 0.23 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs776840989 10q22.2 10 73312490G> A null P S 426 426 missense 0.0 benign 0.76 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1242562689 10q22.2 10 73312483G> C null P R 428 428 missense 0.003 benign 0.09 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed,gnomAD rs372345561 10q22.2 10 73312480C> T null G E 429 429 missense 0.328 benign 0.17 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1446599468 10q22.2 10 73312477T> C null D G 430 430 missense 0.0 benign 0.26 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147595147 10q22.2 10 73312475C> T null V M 431 431 7.99E-4 missense 0.0 benign 0.29 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1442661080 10q22.2 10 73311912C> G null Q H 432 432 missense 0.461 possibly damaging 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1183113066 10q22.2 10 73311913T> C null Q R 432 432 missense 0.039 benign 0.37 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs199701402 10q22.2 10 73311911C> G null A P 433 433 missense 0.0 benign 0.12 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs199701402 10q22.2 10 73311911C> A null A S 433 433 missense 0.0 benign 0.29 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs199701402 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73311911C> T null A T 433 433 missense 0.003 benign 0.21 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1205837599 10q22.2 10 73311905T> C null S G 435 435 missense 0.313 benign 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs766890256 10q22.2 10 73311900T> C null I M 436 436 missense 0.003 benign 0.19 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs758785106 10q22.2 10 73311890T> A null S C 440 440 missense 0.894 possibly damaging 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs373210553 10q22.2 10 73311887A> T null S T 441 441 missense 0.828 possibly damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115761754 10q22.2 10 73311878G> T null P T 444 444 0.002396 missense 0.058 benign 0.49 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1243179066 10q22.2 10 73311874A> G null L S 445 445 missense 0.009 benign 0.49 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1418731900 10q22.2 10 73311868C> T null G D 447 447 missense 0.012 benign 0.3 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78334417 10q22.2 10 73311860G> A null P S 450 450 0.04752 missense 0.0 benign 0.87 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1465912201 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73311857G> C null L V 451 451 missense 0.012 benign 0.55 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs977116261 10q22.2 10 73311854T> A null S C 452 452 missense 0.003 benign 0.22 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1297434783 10q22.2 10 73311853C> G null S T 452 452 missense 0.034 benign 0.62 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,TOPMed,gnomAD rs199971858 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 10q22.2 10 73274516G> A null R * 457 457 missense 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs866320808 10q22.2 10 73311834C> A null Q H 458 458 missense 0.789 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed rs760758656 10q22.2 10 73310242A> G null V A 461 461 missense 0.024 benign 0.31 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed rs760758656 10q22.2 10 73310242A> C null V G 461 461 missense 0.145 benign 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1452929127 10q22.2 10 73310243C> T null V I 461 461 missense 0.001 benign 0.17 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs752994609 10q22.2 10 73310236G> A null A V 463 463 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs767438813 10q22.2 10 73310234C> T null G R 464 464 missense 0.005 benign 0.8 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP rs150901801 10q22.2 10 73310222C> T null V M 468 468 missense 0.209 benign 0.2 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1204073489 10q22.2 10 73310202G> C null D E 474 474 missense 0.003 benign 0.31 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1481245298 10q22.2 10 73310204C> T null D N 474 474 missense 0.009 benign 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1268943172 10q22.2 10 73310203T> A null D V 474 474 missense 0.221 benign 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs773279647 10q22.2 10 73310198C> T null A T 476 476 missense 0.905 possibly damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs769896070 cosmic curated [Cosmic]: kidney cosmic_study:416 10q22.2 10 73310193C> G null L F 477 477 missense 0.999 probably damaging 0.04 deleterious 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1454813806 10q22.2 10 73310192C> A null V F 478 478 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs761681294 10q22.2 10 73310183G> A null R * 481 481 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs144463707 10q22.2 10 73310182C> T null R Q 481 481 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs549133094 10q22.2 10 73299665C> G null R S 489 489 2.0E-4 missense 0.919 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1402390770 10q22.2 10 73299660T> C null K R 491 491 missense 0.006 benign 0.22 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1166958862 10q22.2 10 73299657T> G null E A 492 492 missense 0.543 possibly damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs187422930 10q22.2 10 73299653C> A null M I 493 493 2.0E-4 missense 0.057 benign 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs776639143 10q22.2 10 73299654A> T null M K 493 493 missense 0.718 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1010196905 10q22.2 10 73299645G> C null P R 496 496 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1170579696 10q22.2 10 73299640G> C null P A 498 498 missense 0.999 probably damaging 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs774844005 10q22.2 10 73299637G> A null P S 499 499 missense 0.017 benign 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC rs771793537 10q22.2 10 73299633A> C null L R 500 500 missense 0.878 possibly damaging 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed rs141600036 10q22.2 10 73299628G> A null R C 502 502 missense 0.912 probably damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs200961373 10q22.2 10 73299627C> T null R H 502 502 missense 0.835 possibly damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs551063949 10q22.2 10 73299624C> T null R Q 503 503 2.0E-4 missense 0.269 benign 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs201193808 10q22.2 10 73299625G> A null R W 503 503 3.99E-4 missense 0.964 probably damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs778402466 10q22.2 10 73299621G> C null T R 504 504 missense 0.888 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1253113582 10q22.2 10 73299615C> T null G E 506 506 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1337749627 10q22.2 10 73299616C> T null G R 506 506 missense 1.0 probably damaging 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1313567346 10q22.2 10 73299612G> A null A V 507 507 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs376594674 10q22.2 10 73299610G> C null Q E 508 508 missense 0.057 benign 0.36 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs376594674 10q22.2 10 73299610G> T null Q K 508 508 missense 0.014 benign 0.78 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1358574468 10q22.2 10 73299606T> G null K T 509 509 missense 0.735 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1404023765 10q22.2 10 73299088_73299089ins C null Y * 514 514 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1308261998 10q22.2 10 73299089A> T null Y N 514 514 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs770414882 10q22.2 10 73299081T> C null I M 516 516 missense 0.0 benign 0.22 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs748895648 10q22.2 10 73299079T> G null Q P 517 517 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1468928963 10q22.2 10 73299075G> C null I M 518 518 missense 0.682 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1158297164 10q22.2 10 73299076A> G null I T 518 518 missense 0.309 benign 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148797297 10q22.2 10 73299072C> A null K N 519 519 5.99E-4 missense 0.201 benign 0.39 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148797297 10q22.2 10 73299072C> G null K N 519 519 5.99E-4 missense 0.201 benign 0.39 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs781583581 10q22.2 10 73299064G> C null S C 522 522 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs112759937 10q22.2 10 73299059C> T null A T 524 524 missense 0.146 benign 0.19 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs755402751 10q22.2 10 73299052A> C null L R 526 526 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs961601211 10q22.2 10 73299049T> C null D G 527 527 missense 0.05 benign 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs199895995 10q22.2 10 73299041A> G null Y H 530 530 missense 0.0 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs758543795 10q22.2 10 73299031A> C null F C 533 533 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs750554217 10q22.2 10 73299028C> G null G A 534 534 missense 0.931 probably damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1343297239 10q22.2 10 73299007T> G null E A 541 541 missense 0.003 benign 0.32 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs771348310 10q22.2 10 73299006C> G null E D 541 541 missense 0.093 benign 0.47 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1436590873 10q22.2 10 73299004C> G null S T 542 542 missense 0.021 benign 0.52 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1564805249 10q22.2 10 73298998A> G null M T 544 544 missense 0.0 benign 0.32 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1332116133 10q22.2 10 73298999T> C null M V 544 544 missense 0.0 benign 0.37 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1029114493 10q22.2 10 73298989T> G null E A 547 547 missense 0.293 benign 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs747884472 10q22.2 10 73298981C> T null E K 550 550 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs767232872 10q22.2 10 73298974T> C null Q R 552 552 missense 0.003 benign 0.4 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1160428440 10q22.2 10 73298968C> G null C S 554 554 missense 0.554 possibly damaging 0.16 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,gnomAD rs372116192 10q22.2 10 73298957A> T null Y N 558 558 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs558244871 10q22.2 10 73298954C> G null E Q 559 559 missense 0.998 probably damaging 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed rs144206944 10q22.2 10 73298944C> A null C F 562 562 missense 0.153 benign 0.69 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1190919900 10q22.2 10 73298927C> T null A T 568 568 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs769221736 10q22.2 10 73298926G> A null A V 568 568 missense 0.998 probably damaging 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1320904608 10q22.2 10 73298914T> C null Q R 572 572 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs769125901 10q22.2 10 73298908T> C null K R 574 574 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs769125901 10q22.2 10 73298908T> G null K T 574 574 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs762628407 10q22.2 10 73297172T> A null H L 575 575 missense 0.655 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs968618574 10q22.2 10 73297173G> T null H N 575 575 missense 0.782 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs762628407 10q22.2 10 73297172T> G null H P 575 575 missense 0.929 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs762628407 10q22.2 10 73297172T> C null H R 575 575 missense 0.11 benign 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1243183317 10q22.2 10 73297166A> G null V A 577 577 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs764750300 10q22.2 10 73297164C> A null V L 578 578 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs375644771 10q22.2 10 73297159C> A null K N 579 579 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs777269373 10q22.2 10 73297158T> C null I V 580 580 missense 0.991 probably damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1342106206 10q22.2 10 73297155C> T null V M 581 581 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,NCI-TCGA,gnomAD rs781065003 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q22.2 10 73254000A> G null V A 583 583 missense 0.558 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1564802582 10q22.2 10 73297147A> C null D E 583 583 missense 0.0 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs900606171 10q22.2 10 73297142T> C null Y C 585 585 missense 0.953 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1354195150 10q22.2 10 73297133G> C null T R 588 588 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs201985907 10q22.2 10 73297130G> A null T I 589 589 missense 0.083 benign 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs201985907 10q22.2 10 73297130G> T null T K 589 589 missense 0.875 possibly damaging 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1185777177 10q22.2 10 73297128A> G null S P 590 590 missense 0.003 benign 0.19 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1244009442 10q22.2 10 73297118C> T null S N 593 593 missense 0.001 benign 0.33 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1442758249 10q22.2 10 73297115T> C null Q R 594 594 missense 0.001 benign 0.36 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs138288563 10q22.2 10 73297102C> G null Q H 598 598 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs138288563 10q22.2 10 73297102C> A null Q H 598 598 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,gnomAD rs370696209 10q22.2 10 73297100G> A null T I 599 599 missense 0.102 benign 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1462555225 10q22.2 10 73297095T> C null I V 601 601 missense 0.155 benign 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC rs771029169 10q22.2 10 73297092T> G null S R 602 602 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs749409788 10q22.2 10 73297086G> C null L V 604 604 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs754862818 10q22.2 10 73297082T> C null Y C 605 605 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs781086014 10q22.2 10 73297083A> G null Y H 605 605 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs754862818 10q22.2 10 73297082T> G null Y S 605 605 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs746982285 10q22.2 10 73297080C> T null V M 606 606 missense 0.949 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs758144981 10q22.2 10 73297070A> T null V E 609 609 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1167317619 10q22.2 10 73297071C> T null V I 609 609 missense 0.618 possibly damaging 0.17 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs750081174 10q22.2 10 73297066A> T null D E 610 610 missense 0.618 possibly damaging 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs764861614 10q22.2 10 73297065G> C null Q E 611 611 missense 0.92 probably damaging 0.26 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1278000282 10q22.2 10 73297060C> G null M I 612 612 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs756756793 10q22.2 10 73297058T> A null H L 613 613 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs756756793 10q22.2 10 73297058T> C null H R 613 613 missense 0.848 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1564802099 10q22.2 10 73297052G> A null A V 615 615 missense 0.164 benign 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs753445017 10q22.2 10 73297043T> C null Q R 618 618 missense 0.629 possibly damaging 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs759922619 10q22.2 10 73293383C> G null M I 620 620 missense 0.0 benign 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs550762173 10q22.2 10 73293381G> A null P L 621 621 2.0E-4 missense 0.003 benign 0.65 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1267511581 10q22.2 10 73293373C> T null V I 624 624 missense 0.0 benign 0.45 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1192261940 10q22.2 10 73293369T> G null Q P 625 625 missense 0.003 benign 0.41 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs374908871 10q22.2 10 73293355T> C null T A 630 630 missense 0.0 benign 0.5 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1219513943 10q22.2 10 73293341G> C null S R 634 634 missense 0.265 benign 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1285534189 10q22.2 10 73293334G> A null Q * 637 637 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1034943817 10q22.2 10 73293324A> C null L R 640 640 missense 0.149 benign 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs775462143 10q22.2 10 73293309G> C null A G 645 645 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1448801342 10q22.2 10 73293284C> T null M I 653 653 missense 0.003 benign 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1309484876 10q22.2 10 73293285A> C null M R 653 653 missense 0.447 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1248681839 10q22.2 10 73293282G> A null A V 654 654 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1381544459 10q22.2 10 73293280C> T null A T 655 655 missense 0.014 benign 0.27 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1322243229 10q22.2 10 73293265C> T null E K 660 660 missense 0.969 probably damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1160588365 10q22.2 10 73293264T> A null E V 660 660 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1171023700 10q22.2 10 73292014T> C null R G 661 661 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs763369099 10q22.2 10 73292010A> C null L W 662 662 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs765487703 10q22.2 10 73292007A> G null V A 663 663 missense 0.055 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs200556479 10q22.2 10 73292008C> T null V I 663 663 2.0E-4 missense 0.764 possibly damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1212308476 cosmic curated [Cosmic]: pancreas cosmic_study:328 10q22.2 10 73292005G> A null R C 664 664 missense 0.997 probably damaging 0.05 deleterious 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs774066061 10q22.2 10 73292004C> T null R H 664 664 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs774066061 10q22.2 10 73292004C> A null R L 664 664 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1482111740 10q22.2 10 73291994C> G null Q H 667 667 missense 0.18 benign 0.38 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs776520452 10q22.2 10 73291993T> G null N H 668 668 missense 0.479 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs768810065 10q22.2 10 73291986T> C null D G 670 670 missense 0.409 benign 0.16 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs545333060 10q22.2 10 73291983T> C null H R 671 671 3.99E-4 missense 0.724 possibly damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs267602572 10q22.2 10 73291984G> A null H Y 671 671 missense 0.065 benign 0.31 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1005706292 10q22.2 10 73291975C> T null D N 674 674 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1242915791 10q22.2 10 73291971T> C null Y C 675 675 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs777536931 10q22.2 10 73291959C> A null C F 679 679 missense 0.997 probably damaging 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs769522634 10q22.2 10 73291957G> A null L F 680 680 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112566204 10q22.2 10 73291950G> A null T I 682 682 3.99E-4 missense 0.009 benign 0.46 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed,gnomAD rs138059159 10q22.2 10 73291939T> A null I F 686 686 missense 0.01 benign 0.58 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed,gnomAD rs138059159 10q22.2 10 73291939T> C null I V 686 686 missense 0.031 benign 0.45 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs199903879 10q22.2 10 73291928T> G null Q H 689 689 missense 0.99 probably damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1473980094 10q22.2 10 73291926T> A null E V 690 690 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs754533201 10q22.2 10 73291917T> C null Q R 693 693 missense 0.0 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1174071169 10q22.2 10 73291903G> A null L F 698 698 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1181713984 10q22.2 10 73291894T> C null S G 701 701 missense 0.05 benign 0.18 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1471756884 10q22.2 10 73291892A> C null S R 701 701 missense 0.079 benign 0.57 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1183017202 10q22.2 10 73291885G> A null H Y 704 704 missense 0.012 benign 0.57 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs557287985 10q22.2 10 73291747A> G null L P 708 708 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1332200983 10q22.2 10 73291741C> G null G A 710 710 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed rs371522792 10q22.2 10 73291739C> T null V I 711 711 missense 0.007 benign 0.97 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1320242719 10q22.2 10 73291733C> A null A S 713 713 missense 0.487 possibly damaging 0.09 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs780511862 10q22.2 10 73291718T> C null N D 718 718 missense 0.601 possibly damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1174416338 10q22.2 10 73291714T> A null Y F 719 719 missense 0.967 probably damaging 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1478284868 10q22.2 10 73291709G> T null Q K 721 721 missense 0.625 possibly damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs746408678 10q22.2 10 73291695G> T null F L 725 725 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs906685093 10q22.2 10 73291671T> A null E D 733 733 missense 0.005 benign 0.38 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1373086696 10q22.2 10 73291673C> G null E Q 733 733 missense 0.611 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs201722432 10q22.2 10 73291670G> A null P S 734 734 missense 0.788 possibly damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs753994872 10q22.2 10 73291667T> C null T A 735 735 missense 0.003 benign 0.19 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs764444922 10q22.2 10 73291661C> T null V I 737 737 missense 0.113 benign 0.62 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1219320754 10q22.2 10 73291654G> A null A V 739 739 missense 0.985 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs752873304 10q22.2 10 73291648G> T null T N 741 741 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1226919114 10q22.2 10 73291643G> C null L V 743 743 missense 0.973 probably damaging 0.11 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1213285197 10q22.2 10 73291640C> G null G R 744 744 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1296673339 10q22.2 10 73291435T> C null Y C 747 747 missense 0.332 benign 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1296673339 10q22.2 10 73291435T> A null Y F 747 747 missense 0.974 probably damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1009216523 10q22.2 10 73291427G> A null Q * 750 750 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs746318738 10q22.2 10 73291421T> A null N Y 752 752 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1306301088 10q22.2 10 73291412G> C null R G 755 755 missense 0.111 benign 0.25 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1371103995 10q22.2 10 73291402A> G null M T 758 758 missense 0.554 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed,gnomAD rs151226888 10q22.2 10 73291399G> T null A E 759 759 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed,gnomAD rs143013340 10q22.2 10 73291394G> T null H N 761 761 missense 0.554 possibly damaging 0.13 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs757560403 10q22.2 10 73291392A> C null H Q 761 761 missense 0.093 benign 0.27 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs749703466 10q22.2 10 73291378T> A null Q L 766 766 missense 0.006 benign 0.35 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs777836511 10q22.2 10 73291376G> A null L F 767 767 missense 0.898 possibly damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1472085510 10q22.2 10 73291375A> G null L P 767 767 missense 0.854 possibly damaging 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1269732978 10q22.2 10 73291373G> C null Q E 768 768 missense 0.108 benign 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs147585064 10q22.2 10 73291360A> G null L P 772 772 missense 0.0 benign 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1221563075 10q22.2 10 73291358G> A null Q * 773 773 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1292527578 10q22.2 10 73291351T> C null Q R 775 775 missense 0.0 benign 0.34 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs933273428 10q22.2 10 73291346T> C null T A 777 777 missense 0.007 benign 0.93 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs750379133 10q22.2 10 73291342T> A null K M 778 778 missense 0.711 possibly damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs765257235 10q22.2 10 73291325C> T null V I 784 784 missense 0.0 benign 0.27 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs763831489 10q22.2 10 73291316T> C null T A 787 787 missense 0.0 benign 0.93 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs760257328 10q22.2 10 73291315G> A null T I 787 787 missense 0.0 benign 0.36 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1198450525 10q22.2 10 73291313C> T null E K 788 788 missense 0.118 benign 0.26 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs201746799 10q22.2 10 73291310C> A null E * 789 789 2.0E-4 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs201746799 10q22.2 10 73291310C> T null E K 789 789 2.0E-4 missense 0.012 benign 0.17 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1351376774 10q22.2 10 73291304C> T null G R 791 791 missense 0.003 benign 0.23 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1263430549 10q22.2 10 73291299C> A null K N 792 792 missense 0.554 possibly damaging 0.23 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs200463079 10q22.2 10 73291293T> G null E D 794 794 5.99E-4 missense 0.006 benign 0.22 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs759114709 10q22.2 10 73291284T> G null L F 797 797 missense 0.0 benign 0.33 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1192023290 10q22.2 10 73291269G> C null I M 802 802 missense 0.003 benign 0.23 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs774810820 10q22.2 10 73291268T> C null T A 803 803 missense 0.0 benign 0.3 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs145172595 10q22.2 10 73291267G> A null T I 803 803 missense 0.0 benign 0.1 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs375255944 10q22.2 10 73291265T> C null N D 804 804 missense 0.0 benign 0.94 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1266122956 10q22.2 10 73291262C> T null G S 805 805 missense 0.0 benign 0.48 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs770067696 10q22.2 10 73291258G> A null S F 806 806 missense 0.931 probably damaging 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1176103549 cosmic curated [Cosmic]: oesophagus pubmed:22877736,cosmic_study:448 10q22.2 10 73291253T> C null T A 808 808 missense 0.001 benign 0.51 tolerated 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1248778387 10q22.2 10 73291252G> C null T R 808 808 missense 0.209 benign 0.34 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1045252285 10q22.2 10 73291243T> C null K R 811 811 missense 0.012 benign 0.27 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737616 10q22.2 10 73291241C> T null V M 812 812 0.002596 missense 0.005 benign 0.23 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes rs533643216 10q22.2 10 73291232G> A null P S 815 815 2.0E-4 missense 0.001 benign 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1171123456 10q22.2 10 73291229C> A null A S 816 816 missense 0.015 benign 0.62 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1044844296 10q22.2 10 73278335G> T null P T 818 818 missense 0.05 benign 0.17 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,gnomAD rs377634166 10q22.2 10 73278328G> A null A V 820 820 missense 0.013 benign 0.33 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1345891088 10q22.2 10 73278321T> A null L F 822 822 missense 0.001 benign 0.69 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1382397045 10q22.2 10 73278320A> G null S P 823 823 missense 0.644 possibly damaging 0.19 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1475992643 10q22.2 10 73278317T> C null I V 824 824 missense 0.0 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs997932395 10q22.2 10 73278309G> C null D E 826 826 missense 0.0 benign 0.37 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145787613 10q22.2 10 73278305A> C null F V 828 828 3.99E-4 missense 0.0 benign 0.53 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1487117885 10q22.2 10 73278302G> A null L F 829 829 missense 0.223 benign 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs777640595 10q22.2 10 73278290A> G null S P 833 833 missense 0.0 benign 0.19 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1174792035 10q22.2 10 73278285T> A null K N 834 834 missense 0.034 benign 0.2 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149826847 10q22.2 10 73278283A> T null L Q 835 835 3.99E-4 missense 0.095 benign 0.59 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs565233887 10q22.2 10 73278279C> A null Q H 836 836 2.0E-4 missense 0.003 benign 0.38 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs767322973 10q22.2 10 73278274T> C null D G 838 838 missense 0.063 benign 0.36 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1429285177 10q22.2 10 73278262G> C null P R 842 842 missense 0.0 benign 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs759149275 10q22.2 10 73278254T> A null T S 845 845 missense 0.0 benign 0.9 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs751184452 10q22.2 10 73278250G> T null T K 846 846 missense 0.003 benign 0.42 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12256262 10q22.2 10 73278241C> A null W L 849 849 0.02416 missense 0.0 benign 0.41 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1281187576 10q22.2 10 73278242A> G null W R 849 849 missense 0.013 benign 0.56 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs762435270 10q22.2 10 73278236G> C null P A 851 851 missense 0.003 benign 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150698413 10q22.2 10 73278233T> C null S G 852 852 9.98E-4 missense 0.05 benign 0.09 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs765892315 10q22.2 10 73278230T> C null I V 853 853 missense 0.0 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs769142591 10q22.2 10 73278219T> A null K N 856 856 missense 0.0 benign 0.11 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs747201449 10q22.2 10 73278218G> T null P T 857 857 missense 0.0 benign 0.41 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs775636277 10q22.2 10 73278210G> T null N K 859 859 missense 0.055 benign 0.9 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1306909580 10q22.2 10 73278208G> A null T I 860 860 missense 0.0 benign 0.54 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1369263429 10q22.2 10 73278199T> C null K R 863 863 missense 0.007 benign 0.1 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1379641530 10q22.2 10 73278196T> C null E G 864 864 missense 0.011 benign 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC rs745977548 10q22.2 10 73278191G> C null P A 866 866 missense 0.0 benign 0.26 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs182804799 10q22.2 10 73278184T> C null K R 868 868 2.0E-4 missense 0.406 benign 0.19 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs182804799 10q22.2 10 73278184T> G null K T 868 868 2.0E-4 missense 0.913 probably damaging 0.12 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs755996660 10q22.2 10 73278182T> C null K E 869 869 missense 0.003 benign 0.35 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs772232689 10q22.2 10 73277359C> T null A T 871 871 missense 0.0 benign 0.52 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs774374249 10q22.2 10 73277355G> C null S * 872 872 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs774374249 10q22.2 10 73277355G> A null S L 872 872 missense 0.001 benign 0.13 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs746125999 10q22.2 10 73277356A> G null S P 872 872 missense 0.003 benign 0.12 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1468589019 10q22.2 10 73277351T> A null K N 873 873 missense 0.893 possibly damaging 0.18 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs554608927 10q22.2 10 73277350A> G null C R 874 874 2.0E-4 missense 0.03 benign 0.35 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs189959520 10q22.2 10 73277349C> T null C Y 874 874 2.0E-4 missense 0.031 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs551423264 cosmic curated [Cosmic]: large_intestine cosmic_study:376 10q22.2 10 73277340G> C null S * 877 877 missense 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs551423264 10q22.2 10 73277340G> A null S L 877 877 missense 0.11 benign 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1255865700 10q22.2 10 73277334G> C null A G 879 879 missense 0.001 benign 0.4 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1564770593 10q22.2 10 73277322G> A null P L 883 883 missense 0.001 benign 0.05 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs199863243 10q22.2 10 73277323G> A null P S 883 883 2.0E-4 missense 0.003 benign 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs199863243 10q22.2 10 73277323G> T null P T 883 883 2.0E-4 missense 0.036 benign 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1184993071 10q22.2 10 73277314G> A null H Y 886 886 missense 0.0 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed rs372485835 10q22.2 10 73277310T> C null Y C 887 887 missense 0.113 benign 0.17 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1320116902 10q22.2 10 73277307C> G null G A 888 888 missense 0.001 benign 0.39 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1455879618 10q22.2 10 73277302A> C null S A 890 890 missense 0.003 benign 0.4 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1433787448 10q22.2 10 73277290T> A null T S 894 894 missense 0.007 benign 0.44 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1175276073 10q22.2 10 73277287T> C null I V 895 895 missense 0.085 benign 0.1 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs764740675 10q22.2 10 73277279C> T null M I 897 897 missense 0.495 possibly damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1477622152 10q22.2 10 73277280A> G null M T 897 897 missense 0.495 possibly damaging 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1373505170 10q22.2 10 73277275T> A null T S 899 899 missense 0.288 benign 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1195491376 10q22.2 10 73277272T> C null I V 900 900 missense 0.007 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs761081470 10q22.2 10 73277268T> G null H P 901 901 missense 0.0 benign 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs767956045 10q22.2 10 73277267A> T null H Q 901 901 missense 0.0 benign 0.5 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs139550224 10q22.2 10 73277254C> T null V I 906 906 missense 0.783 possibly damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs139550224 10q22.2 10 73277254C> G null V L 906 906 missense 0.718 possibly damaging 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs774612858 10q22.2 10 73277242G> C null Q E 910 910 missense 0.792 possibly damaging 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1397825840 10q22.2 10 73277241T> A null Q L 910 910 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs766635803 10q22.2 10 73275595C> T null V M 912 912 missense 0.077 benign 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs763182877 10q22.2 10 73275589T> C null R G 914 914 missense 0.786 possibly damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs537062105 10q22.2 10 73275583G> C null L V 916 916 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs760467341 10q22.2 10 73275575A> T null H Q 918 918 missense 0.999 probably damaging 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs1042186805 10q22.2 10 73275576T> C null H R 918 918 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1435901727 10q22.2 10 73275577G> A null H Y 918 918 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs771762553 10q22.2 10 73275561G> A null P L 923 923 missense 0.243 benign 0.43 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1257942513 10q22.2 10 73275552C> T null G D 926 926 missense 0.979 probably damaging 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs375153335 10q22.2 10 73275550G> A null P S 927 927 missense 0.995 probably damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1166411191 10q22.2 10 73275543C> T null C Y 929 929 missense 0.987 probably damaging 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1411445430 10q22.2 10 73275540T> G null E A 930 930 missense 0.166 benign 0.68 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs748981002 10q22.2 10 73275516G> A null T I 938 938 missense 0.381 benign 0.4 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1475416325 10q22.2 10 73275505T> C null K E 942 942 missense 0.843 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1240005596 10q22.2 10 73275502T> C null K E 943 943 missense 0.216 benign 0.65 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4294502 10q22.2 10 73275499T> C null N D 944 944 0.2294 missense 0.0 benign 1.0 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs755663493 10q22.2 10 73275487C> T null A T 948 948 missense 0.024 benign 0.12 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs371775878 10q22.2 10 73275486G> A null A V 948 948 missense 0.035 benign 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1414460513 10q22.2 10 73275480T> C null E G 950 950 missense 0.952 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1376441098 10q22.2 10 73275481C> T null E K 950 950 missense 0.91 probably damaging 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs781742346 10q22.2 10 73275476G> T null Y * 951 951 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1309605959 10q22.2 10 73275478A> G null Y H 951 951 missense 0.663 possibly damaging 0.25 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1311231402 10q22.2 10 73275474A> C null L R 952 952 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,gnomAD rs369158199 10q22.2 10 73275466C> T null A T 955 955 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 Ensembl rs912265310 10q22.2 10 73275450T> C null Y C 960 960 missense 0.979 probably damaging 0.16 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs975418225 10q22.2 10 73275448G> T null L M 961 961 missense 0.315 benign 0.3 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1373984147 10q22.2 10 73274594T> C null N D 962 962 missense 0.075 benign 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1300811623 10q22.2 10 73274582A> C null W G 966 966 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,TOPMed,gnomAD rs550296170 10q22.2 10 73274570C> T null G S 970 970 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1396481888 10q22.2 10 73274560T> C null Y C 973 973 missense 0.006 benign 0.2 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1326134632 10q22.2 10 73274554A> G null L P 975 975 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs757266724 10q22.2 10 73274551C> T null S N 976 976 missense 0.01 benign 0.21 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs764303510 10q22.2 10 73274550A> T null S R 976 976 missense 0.005 benign 0.65 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs774444363 10q22.2 10 73274528C> G null A P 984 984 missense 0.765 possibly damaging 0.07 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs766264713 10q22.2 10 73274521T> C null Y C 986 986 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1452950778 10q22.2 10 73274522A> C null Y D 986 986 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs772715903 10q22.2 10 73274515C> T null R Q 988 988 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs747786328 10q22.2 10 73274507T> A null S C 991 991 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs776136591 10q22.2 10 73274506C> A null S I 991 991 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1372866062 10q22.2 10 73274500A> G null V A 993 993 missense 0.99 probably damaging 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1232048942 10q22.2 10 73274501C> T null V I 993 993 missense 0.9 possibly damaging 0.16 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1446734775 10q22.2 10 73274486C> T null E K 998 998 missense 0.951 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1433845231 10q22.2 10 73274476A> G null F S 1001 1001 missense 0.46 possibly damaging 0.41 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs949875412 10q22.2 10 73274474T> G null I L 1002 1002 missense 0.447 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs949875412 10q22.2 10 73274474T> C null I V 1002 1002 missense 0.058 benign 0.71 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1290050915 10q22.2 10 73274470A> C null F C 1003 1003 missense 0.937 probably damaging 0.09 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1175949413 10q22.2 10 73274458C> T null G E 1007 1007 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed,gnomAD rs141997089 10q22.2 10 73274456G> A null L F 1008 1008 missense 0.262 benign 0.11 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed,gnomAD rs141997089 10q22.2 10 73274456G> T null L I 1008 1008 missense 0.187 benign 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1449017365 10q22.2 10 73274449T> G null Y S 1010 1010 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs1188562233 10q22.2 10 73274437T> G null K T 1014 1014 missense 0.744 possibly damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1204421773 10q22.2 10 73273017A> C null Y D 1016 1016 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC rs768147169 10q22.2 10 73273005T> C null K E 1020 1020 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1252894688 10q22.2 10 73273004T> C null K R 1020 1020 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1290832528 10q22.2 10 73272991C> G null M I 1024 1024 missense 0.02 benign 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1320756889 10q22.2 10 73272992A> G null M T 1024 1024 missense 0.143 benign 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1157626539 10q22.2 10 73272988T> G null Q H 1025 1025 missense 0.011 benign 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs575812060 10q22.2 10 73272984A> T null C S 1027 1027 missense 0.906 possibly damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148327573 10q22.2 10 73272977C> T null R K 1029 1029 2.0E-4 missense 0.017 benign 0.5 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs772521272 10q22.2 10 73272971G> A null P L 1031 1031 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1394728339 10q22.2 10 73272951C> G null G R 1038 1038 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1462639659 10q22.2 10 73272941A> G null I T 1041 1041 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs968587653 10q22.2 10 73272942T> C null I V 1041 1041 missense 0.994 probably damaging 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1476222313 10q22.2 10 73272938G> T null A D 1042 1042 missense 0.873 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs771214534 10q22.2 10 73272939C> A null A S 1042 1042 missense 0.438 benign 0.06 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs771214534 10q22.2 10 73272939C> T null A T 1042 1042 missense 0.83 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs918915334 10q22.2 10 73272929C> T null R Q 1045 1045 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs775878004 10q22.2 10 73272930G> A null R W 1045 1045 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1278562465 10q22.2 10 73269707C> G null E D 1048 1048 missense 0.341 benign 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1236948845 10q22.2 10 73269706G> T null L I 1049 1049 missense 0.023 benign 0.12 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1261854036 10q22.2 10 73269702G> A null T I 1050 1050 missense 0.02 benign 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs778302842 10q22.2 10 73269672T> C null N S 1060 1060 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1175517789 10q22.2 10 73269657T> C null Y C 1065 1065 missense 0.0 benign 0.2 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs759633347 10q22.2 10 73269654T> C null N S 1066 1066 missense 0.027 benign 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1476208081 10q22.2 10 73269642C> T null W * 1070 1070 stop gained 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,TOPMed,gnomAD rs376949820 10q22.2 10 73269643A> G null W R 1070 1070 missense 0.591 possibly damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs745809298 10q22.2 10 73269640C> G null A P 1071 1071 missense 0.815 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs971054869 10q22.2 10 73269630G> A null A V 1074 1074 missense 0.146 benign 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs773643557 10q22.2 10 73256415A> C null V G 1080 1080 missense 0.0 benign 0.69 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,TOPMed,gnomAD rs138633990 10q22.2 10 73256416C> T null V I 1080 1080 missense 0.021 benign 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs776780037 10q22.2 10 73256409C> T null R Q 1082 1082 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,TOPMed,gnomAD rs748363705 cosmic curated [Cosmic]: pancreas cosmic_study:328 10q22.2 10 73256410G> A null R W 1082 1082 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs780208474 10q22.2 10 73256402T> G null L F 1084 1084 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs747104067 10q22.2 10 73256403A> G null L S 1084 1084 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed rs1485476710 10q22.2 10 73256395C> T null E K 1087 1087 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs749232343 10q22.2 10 73256392G> C null Q E 1088 1088 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ExAC,gnomAD rs777490491 10q22.2 10 73256381C> G null K N 1091 1091 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1459574612 10q22.2 10 73256377T> G null M L 1093 1093 missense 0.001 benign 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 TOPMed,gnomAD rs984643993 10q22.2 10 73256373A> G null I T 1094 1094 missense 0.0 benign 0.08 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1399954571 10q22.2 10 73254047C> A null L F 1098 1098 missense 0.999 probably damaging 0.05 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1164737803 10q22.2 10 73254044T> A null K N 1099 1099 missense 0.02 benign 0.1 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 ESP,ExAC,gnomAD rs371914735 10q22.2 10 73254042T> A null D V 1100 1100 missense 0.83 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1417045582 10q22.2 10 73254039T> G null E A 1101 1101 missense 0.146 benign 0.04 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1456350490 10q22.2 10 73254040C> T null E K 1101 1101 missense 0.007 benign 0.12 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1013871440 10q22.2 10 73254018T> A null H L 1108 1108 missense 0.478 possibly damaging 0.01 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1013871440 10q22.2 10 73254018T> C null H R 1108 1108 missense 0.014 benign 0.19 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1192757365 10q22.2 10 73254019G> A null H Y 1108 1108 missense 0.719 possibly damaging 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1217798342 10q22.2 10 73254016T> G null T P 1109 1109 missense 0.04 benign 0.27 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1354342264 10q22.2 10 73254012A> G null L P 1110 1110 missense 0.092 benign 0.02 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1279251992 10q22.2 10 73254003G> C null T R 1113 1113 missense 0.003 benign 0.57 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 gnomAD rs1292512079 10q22.2 10 73254001C> T null V I 1114 1114 missense 0.177 benign 0.15 tolerated 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs564953754 10q22.2 10 73253986G> A null P S 1119 1119 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs564953754 10q22.2 10 73253986G> T null P T 1119 1119 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW1 CFAP70 Cilia- and flagella-associated protein 70 1000Genomes,ExAC,gnomAD rs539894199 10q22.2 10 73253982G> A null S F 1120 1120 2.0E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs921368811 19p12 19 21851931G> C null P A 2 2 missense 0.737 possibly damaging 0.35 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs572110949 19p12 19 21851930G> A null P L 2 2 2.0E-4 missense 0.856 possibly damaging 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs572110949 19p12 19 21851930G> C null P R 2 2 2.0E-4 missense 0.908 possibly damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs921368811 19p12 19 21851931G> T null P T 2 2 missense 0.81 possibly damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs889754120 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21851925G> A null H Y 4 4 missense 0.031 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1452208507 19p12 19 21851922G> T null P T 5 5 missense 0.81 possibly damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1394039113 19p12 19 21851919C> T null G R 6 6 missense 0.055 benign 0.55 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs775263854 19p12 19 21851915C> A null S I 7 7 missense 0.007 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1365154430 19p12 19 21851914G> C null S R 7 7 missense 0.007 benign 0.17 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs182177045 19p12 19 21851912C> A null W L 8 8 0.004193 missense 0.012 benign 0.85 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs755924227 19p12 19 21819221C> T null G R 11 11 missense 0.469 possibly damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs142555439 19p12 19 21819212T> G null T P 14 14 3.99E-4 missense 0.537 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs976470506 19p12 19 21819197C> A null A S 19 19 missense 0.292 benign 0.09 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs965337702 19p12 19 21819196G> A null A V 19 19 missense 0.058 benign 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs751018078 19p12 19 21819193A> G null I T 20 20 missense 0.702 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1435908209 19p12 19 21819190T> C null E G 21 21 missense 0.254 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs748065983 19p12 19 21819184C> G null C S 23 23 missense 0.048 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs748065983 19p12 19 21819184C> T null C Y 23 23 missense 0.266 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs199785675 19p12 19 21819175T> G null E A 26 26 missense 0.139 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1200760805 19p12 19 21819176C> T null E K 26 26 missense 0.182 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568360345 cosmic curated [Cosmic]: lung pubmed:23405175,cosmic_study:470 19p12 19 21819172C> T null W * 27 27 missense 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs763351532 19p12 19 21819167A> T null C S 29 29 missense 0.765 possibly damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1233000037 19p12 19 21819166C> T null C Y 29 29 missense 0.919 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1421037909 19p12 19 21819161C> A null D Y 31 31 missense 0.635 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,gnomAD rs368237364 19p12 19 21819158T> G null I L 32 32 missense 0.0 benign 0.18 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1440683774 19p12 19 21819152G> A null Q * 34 34 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs951184860 19p12 19 21819145T> C null N S 36 36 missense 0.192 benign 0.16 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1262512242 19p12 19 21819134T> G null N H 40 40 missense 0.635 possibly damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs765622483 19p12 19 21819133T> C null N S 40 40 missense 0.012 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs776853520 19p12 19 21819126C> T null M I 42 42 missense 0.011 benign 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1303150107 19p12 19 21819127A> G null M T 42 42 missense 0.065 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs995257123 19p12 19 21819122C> T null E K 44 44 missense 0.057 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs771130426 19p12 19 21819118T> C null N S 45 45 missense 0.182 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1410213946 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19p12 19 21819115T> C null Y C 46 46 missense 0.966 probably damaging 0.0 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs199901948 19p12 19 21819116A> T null Y N 46 46 missense 0.934 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs747157934 19p12 19 21819109T> C null N S 48 48 missense 0.139 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs747157934 19p12 19 21819109T> G null N T 48 48 missense 0.254 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs772075140 19p12 19 21817986C> A null G V 53 53 missense 0.781 possibly damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1235649073 19p12 19 21817984T> C null I V 54 54 missense 0.274 benign 0.13 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs973975739 19p12 19 21817980G> C null A G 55 55 missense 0.866 possibly damaging 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs973975739 19p12 19 21817980G> A null A V 55 55 missense 0.866 possibly damaging 0.11 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs775577704 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 19p12 19 21817977A> G null V A 56 56 missense 0.728 possibly damaging 0.23 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568358536 19p12 19 21817978C> G null V L 56 56 missense 0.621 possibly damaging 0.15 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1287317708 19p12 19 21817975A> T null S T 57 57 missense 0.139 benign 0.07 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1322580462 19p12 19 21817953C> G null C S 64 64 missense 0.765 possibly damaging 0.24 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1415502230 19p12 19 21817950A> C null L R 65 65 missense 0.537 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1428894586 19p12 19 21817947T> C null E G 66 66 missense 0.197 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs781115079 19p12 19 21817948C> G null E Q 66 66 missense 0.197 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs746676645 19p12 19 21817933G> A null P S 71 71 missense 0.015 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1005065470 19p12 19 21817928C> T null W * 72 72 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1253118019 19p12 19 21817930A> C null W G 72 72 missense 0.079 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568358288 19p12 19 21817926T> A null E V 73 73 missense 0.005 benign 0.12 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs777417618 19p12 19 21817924G> A null P S 74 74 missense 0.803 possibly damaging 0.81 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1271500173 19p12 19 21817920A> G null M T 75 75 missense 0.005 benign 0.13 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1273033145 19p12 19 21817907T> A null E D 79 79 missense 0.182 benign 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs757861001 19p12 19 21817903C> T null V I 81 81 missense 0.015 benign 0.17 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs757861001 19p12 19 21817903C> A null V L 81 81 missense 0.06 benign 0.32 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs752240409 19p12 19 21817899G> T null A D 82 82 missense 0.439 benign 0.49 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs974423409 19p12 19 21817896T> G null K T 83 83 missense 0.012 benign 0.13 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs765802448 19p12 19 21817893G> T null P H 84 84 missense 0.341 benign 0.33 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs765802448 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21817893G> A null P L 84 84 missense 0.052 benign 0.31 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1305732389 19p12 19 21817888C> G null V L 86 86 missense 0.003 benign 0.47 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA rs750782917 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21809803C> T null M I 87 87 missense 0.094 benign 0.6 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs780472768 19p12 19 21809805T> A null M L 87 87 missense 0.017 benign 0.36 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC rs756445379 19p12 19 21809804A> G null M T 87 87 missense 0.065 benign 0.28 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs767696273 19p12 19 21809798G> C null S C 89 89 missense 0.788 possibly damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1248949367 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21809795T> C null H R 90 90 missense 0.104 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1486197634 19p12 19 21809784C> T null D N 94 94 missense 0.412 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138529640 19p12 19 21809776C> G null W C 96 96 3.99E-4 missense 0.629 possibly damaging 0.12 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1318664849 19p12 19 21809763T> C null I V 101 101 missense 0.001 benign 0.13 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes rs144333440 19p12 19 21809759T> G null K T 102 102 2.0E-4 missense 0.012 benign 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568348241 19p12 19 21809753G> A null P L 104 104 missense 0.495 possibly damaging 0.58 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs760454992 19p12 19 21809745T> C null K E 107 107 missense 0.192 benign 0.29 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1355817068 19p12 19 21809743T> A null K N 107 107 missense 0.336 benign 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568348175 19p12 19 21809742C> T null A T 108 108 missense 0.007 benign 0.1 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs149604219 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21809741G> A null A V 108 108 9.98E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1438122189 19p12 19 21809726du p null Y * 113 113 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1400973568 19p12 19 21809726T> C null Y C 113 113 missense 0.187 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1412561302 19p12 19 21809727A> G null Y H 113 113 missense 0.146 benign 0.15 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1158641129 19p12 19 21809721T> C null N D 115 115 missense 0.182 benign 0.11 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs771668554 19p12 19 21809720T> C null N S 115 115 missense 0.139 benign 0.35 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1321806159 19p12 19 21809713T> A null E D 117 117 missense 0.047 benign 0.26 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1362621998 19p12 19 21809708T> G null K T 119 119 missense 0.859 possibly damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1215083474 19p12 19 21809705T> C null N S 120 120 missense 0.139 benign 0.09 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs747820227 19p12 19 21809698A> T null H Q 122 122 missense 0.045 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs778495511 19p12 19 21809696A> T null L * 123 123 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1198859143 19p12 19 21809688C> A null D Y 126 126 missense 0.278 benign 0.16 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1485476187 19p12 19 21809683A> T null H Q 127 127 missense 0.0 benign 0.37 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373860338 19p12 19 21809684T> C null H R 127 127 3.99E-4 missense 0.0 benign 0.34 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs552395425 19p12 19 21809685G> A null H Y 127 127 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1262611808 19p12 19 21809676C> T null V M 130 130 missense 0.003 benign 0.24 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs923835849 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21809670C> G null E Q 132 132 missense 0.026 benign 0.11 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs756637120 19p12 19 21809666C> A null C F 133 133 missense 0.919 probably damaging 0.13 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs780480001 19p12 19 21809667A> G null C R 133 133 missense 0.919 probably damaging 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs750791269 19p12 19 21809661C> A null V L 135 135 missense 0.246 benign 0.35 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC rs757523845 19p12 19 21809655T> C null R G 137 137 missense 0.303 benign 0.05 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,gnomAD rs751837195 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p12 19 21809654C> T null R K 137 137 missense 0.373 benign 1.0 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1231149724 19p12 19 21809651C> G null G A 138 138 missense 0.211 benign 0.6 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1231149724 19p12 19 21809651C> T null G E 138 138 missense 0.02 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1294912774 19p12 19 21809652C> T null G R 138 138 missense 0.585 possibly damaging 0.53 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1339571300 19p12 19 21809648C> T null G D 139 139 missense 0.662 possibly damaging 0.33 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs764354359 19p12 19 21809643T> C null N D 141 141 missense 0.549 possibly damaging 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC rs758612454 19p12 19 21809642T> C null N S 141 141 missense 0.451 possibly damaging 0.24 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1383468841 19p12 19 21809640C> T null G R 142 142 missense 0.819 possibly damaging 0.23 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs370895165 19p12 19 21809634T> A null N Y 144 144 missense 0.899 possibly damaging 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1319260677 19p12 19 21809628A> G null C R 146 146 missense 0.983 probably damaging 0.1 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs766270215 19p12 19 21809626A> C null C W 146 146 missense 0.987 probably damaging 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138273957 19p12 19 21809624A> G null L S 147 147 7.99E-4 missense 0.475 possibly damaging 0.12 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs529597756 19p12 19 21809621G> A null P L 148 148 2.0E-4 missense 0.014 benign 0.33 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs767372910 19p12 19 21809616T> C null T A 150 150 missense 0.717 possibly damaging 0.07 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs962614587 19p12 19 21809608G> C null S R 152 152 missense 0.003 benign 0.21 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1195552234 19p12 19 21809604T> A null I L 154 154 missense 0.037 benign 0.31 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,gnomAD rs761526362 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21809594A> G null F S 157 157 missense 0.005 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1303775890 19p12 19 21809591T> C null D G 158 158 missense 0.879 possibly damaging 0.31 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1214336477 19p12 19 21809589T> C null K E 159 159 missense 0.069 benign 0.39 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1468859577 19p12 19 21809588T> C null K R 159 159 missense 0.647 possibly damaging 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs774001944 19p12 19 21809585C> G null C S 160 160 missense 0.465 possibly damaging 0.29 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs774001944 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21809585C> T null C Y 160 160 missense 0.904 possibly damaging 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs768283961 19p12 19 21809583C> T null V M 161 161 missense 0.904 possibly damaging 0.2 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs748863250 19p12 19 21809578T> G null K N 162 162 missense 0.889 possibly damaging 0.11 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1382046214 19p12 19 21809579T> C null K R 162 162 missense 0.851 possibly damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1016548530 19p12 19 21809576G> T null A D 163 163 missense 0.711 possibly damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1333463284 19p12 19 21809570T> C null H R 165 165 missense 0.31 benign 0.56 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs75832207 19p12 19 21809555G> T null S * 170 170 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs746420195 19p12 19 21809553T> C null N D 171 171 missense 0.73 possibly damaging 0.15 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs757709560 19p12 19 21809546T> C null H R 173 173 missense 0.964 probably damaging 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs781486638 19p12 19 21809547G> A null H Y 173 173 missense 0.946 probably damaging 0.13 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs747364354 19p12 19 21809540A> C null I R 175 175 missense 0.006 benign 0.61 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs984927811 19p12 19 21809538T> C null S G 176 176 missense 0.453 possibly damaging 0.44 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs752771511 19p12 19 21809521T> A null K N 181 181 missense 0.844 possibly damaging 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs765378074 19p12 19 21809498C> T null G D 189 189 missense 0.038 benign 0.16 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs750375439 19p12 19 21809488A> C null F L 192 192 missense 0.647 possibly damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1169881734 19p12 19 21809483A> C null M R 194 194 missense 0.074 benign 0.58 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1026363099 19p12 19 21809484T> C null M V 194 194 missense 0.023 benign 0.51 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs267605383 19p12 19 21809478G> A null P S 196 196 missense 0.003 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1165716565 19p12 19 21809474T> C null H R 197 197 missense 0.083 benign 0.16 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1002970669 19p12 19 21809472G> C null L V 198 198 missense 0.979 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1372513947 19p12 19 21809466G> C null Q E 200 200 missense 0.106 benign 0.21 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1003054106 19p12 19 21809465T> A null Q L 200 200 missense 0.121 benign 0.12 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs774128517 19p12 19 21809463G> T null H N 201 201 missense 0.946 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs774128517 19p12 19 21809463G> A null H Y 201 201 missense 0.946 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs907260880 19p12 19 21809457T> C null I V 203 203 missense 0.131 benign 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs373217150 19p12 19 21809454T> G null I L 204 204 missense 0.053 benign 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs762569454 19p12 19 21809453A> T null I N 204 204 missense 0.742 possibly damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs373217150 19p12 19 21809454T> C null I V 204 204 missense 0.074 benign 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs570770557 19p12 19 21809445T> C null R G 207 207 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs550489109 19p12 19 21809425A> C null C W 213 213 missense 0.031 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1053859279 19p12 19 21809424C> T null E K 214 214 missense 0.003 benign 0.62 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs777253592 19p12 19 21809411T> C null K R 218 218 missense 0.827 possibly damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs771565013 19p12 19 21809399C> A null C F 222 222 missense 0.0 benign 0.71 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1481943396 19p12 19 21809397G> C null P A 223 223 missense 0.0 benign 0.49 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,TOPMed rs138685751 19p12 19 21809393G> A null S L 224 224 missense 0.827 possibly damaging 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1250680121 19p12 19 21809391T> C null I V 225 225 missense 0.0 benign 0.5 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs376369848 19p12 19 21809388T> C null I V 226 226 missense 0.0 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1277590992 19p12 19 21809382T> C null K E 228 228 missense 0.003 benign 0.81 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs575007077 19p12 19 21809377A> C null H Q 229 229 missense 0.948 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs575007077 19p12 19 21809377A> T null H Q 229 229 missense 0.948 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs150195477 19p12 19 21809378T> C null H R 229 229 missense 0.924 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1042111890 19p12 19 21809374C> G null K N 230 230 missense 0.181 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1281763506 19p12 19 21809376T> G null K Q 230 230 missense 0.005 benign 0.69 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs758789861 19p12 19 21809375T> G null K T 230 230 missense 0.012 benign 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1279445506 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375,cosmic_study:419 19p12 19 21809372C> A null R I 231 231 missense 0.899 possibly damaging 0.24 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1350218141 19p12 19 21809367T> G null N H 233 233 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs748431447 19p12 19 21809363G> A null T I 234 234 missense 0.093 benign 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs748431447 19p12 19 21809363G> C null T S 234 234 missense 0.058 benign 0.2 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1191557521 19p12 19 21809361C> T null G R 235 235 missense 0.085 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1253187581 19p12 19 21809355T> C null K E 237 237 missense 0.909 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs910417150 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21809352G> T null P T 238 238 missense 0.068 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1488567367 19p12 19 21809347G> T null Y * 239 239 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1333603658 19p12 19 21809349A> G null Y H 239 239 missense 0.812 possibly damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs781172462 19p12 19 21809346T> C null T A 240 240 missense 0.006 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1408704998 19p12 19 21809345G> T null T K 240 240 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs781172462 19p12 19 21809346T> G null T P 240 240 missense 0.062 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs776574712 19p12 19 21809343A> G null C R 241 241 missense 0.995 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140965080 19p12 19 21809340C> T null E K 242 242 3.99E-4 missense 0.007 benign 0.63 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs535195830 19p12 19 21809336T> G null E A 243 243 missense 0.26 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs923090506 19p12 19 21809337C> T null E K 243 243 missense 0.112 benign 0.11 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs368869055 19p12 19 21809334A> G null C R 244 244 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs368869055 19p12 19 21809334A> T null C S 244 244 missense 0.296 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1486450272 19p12 19 21809331C> T null G S 245 245 missense 0.113 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs752408414 19p12 19 21809326T> G null K N 246 246 missense 0.975 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs762670828 19p12 19 21809327T> C null K R 246 246 missense 0.92 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1433175927 19p12 19 21809324A> G null V A 247 247 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs764784308 19p12 19 21809321A> C null F C 248 248 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1311870265 19p12 19 21809322A> G null F L 248 248 missense 0.899 possibly damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs764784308 19p12 19 21809321A> G null F S 248 248 missense 0.674 possibly damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs972214093 cosmic curated [Cosmic]: liver pubmed:22561517,cosmic_study:396 19p12 19 21809317A> C null N K 249 249 missense 0.0 benign 0.49 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1439219801 19p12 19 21809310A> C null S A 252 252 missense 0.006 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs759153660 19p12 19 21809309G> A null S L 252 252 missense 0.003 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200399581 cosmic curated [Cosmic]: large_intestine, [UniProt]: a colorectal cancer sample; somatic mutation pubmed:16959974 pubmed:16959974 19p12 19 21809307G> A null R C 253 253 2.0E-4 missense 0.011 benign 0.13 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201159112 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p12 19 21809306C> T null R H 253 253 2.0E-4 missense 0.003 benign 0.82 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs148124585 19p12 19 21809300G> A null T I 255 255 missense 0.001 benign 0.18 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1283805804 19p12 19 21809298T> C null T A 256 256 missense 0.0 benign 0.52 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs748399930 19p12 19 21809292T> C null K E 258 258 missense 0.01 benign 0.1 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs748399930 19p12 19 21809292T> G null K Q 258 258 missense 0.0 benign 0.73 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,TOPMed rs572691970 19p12 19 21809291T> C null K R 258 258 2.0E-4 missense 0.022 benign 0.11 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1034534088 19p12 19 21809287T> G null K N 259 259 missense 0.006 benign 0.17 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1275002228 19p12 19 21809285T> A null N I 260 260 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs756352063 19p12 19 21809279_21809283de l null Y * 261 261 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1354371416 19p12 19 21809281A> T null Y * 261 261 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs202239252 19p12 19 21809282T> C null Y C 261 261 missense 0.046 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1206800151 19p12 19 21809280T> C null T A 262 262 missense 0.87 possibly damaging 0.07 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs950716836 19p12 19 21809276C> G null R T 263 263 missense 0.359 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,gnomAD rs768755727 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19p12 19 21809273T> C null Y C 264 264 missense 0.465 possibly damaging 0.0 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs550995942 19p12 19 21809274A> C null Y D 264 264 missense 0.341 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs749424567 19p12 19 21809271T> C null K E 265 265 missense 0.038 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1165464397 19p12 19 21809270T> C null K R 265 265 missense 0.051 benign 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1401189158 19p12 19 21809264T> C null Y C 267 267 missense 0.0 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs369320604 19p12 19 21809261T> C null K R 268 268 missense 0.948 probably damaging 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1381280522 19p12 19 21809258C> A null C F 269 269 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs777631517 19p12 19 21809259A> C null C G 269 269 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs777631517 19p12 19 21809259A> G null C R 269 269 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1381280522 19p12 19 21809258C> T null C Y 269 269 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 NCI-TCGA,TOPMed,gnomAD rs760142123 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 19p12 19 21809253C> A null E * 271 271 missense 1 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs760142123 19p12 19 21809253C> G null E Q 271 271 missense 0.036 benign 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,TOPMed,gnomAD rs758272352 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p12 19 21809250A> G null C R 272 272 missense 0.275 benign 0.01 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1206220906 19p12 19 21809246C> A null G V 273 273 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP rs375867859 19p12 19 21809238A> G null F L 276 276 missense 0.956 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1464844706 19p12 19 21809233G> T null N K 277 277 missense 0.003 benign 0.37 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1399550562 19p12 19 21809234T> G null N T 277 277 missense 0.167 benign 0.38 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1041839753 19p12 19 21809230C> G null K N 278 278 missense 0.187 benign 0.32 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1320272424 19p12 19 21809226A> C null S A 280 280 missense 0.448 possibly damaging 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1396305012 19p12 19 21809222A> T null I N 281 281 missense 0.466 possibly damaging 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs373224577 19p12 19 21809223T> C null I V 281 281 missense 0.001 benign 0.26 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1302471270 19p12 19 21809219A> C null L R 282 282 missense 0.545 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1241136143 19p12 19 21809214T> C null T A 284 284 missense 0.054 benign 0.7 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116499302 19p12 19 21809213G> A null T I 284 284 0.003594 missense 0.275 benign 0.21 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1350063810 19p12 19 21809208T> C null K E 286 286 missense 0.979 probably damaging 0.09 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1434454139 19p12 19 21809207T> C null K R 286 286 missense 0.979 probably damaging 0.15 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,TOPMed,gnomAD rs199618668 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p12 19 21809199G> A null R C 289 289 missense 0.0 benign 0.01 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs141039974 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21809198C> T null R H 289 289 missense 0.143 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs773866154 19p12 19 21809193C> T null G R 291 291 missense 0.944 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1421118756 19p12 19 21809190C> T null E K 292 292 missense 0.439 benign 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,gnomAD rs772689824 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21809182G> T null F L 294 294 missense 0.0 benign 0.05 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1054374924 19p12 19 21809180T> A null Y F 295 295 missense 0.005 benign 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1196020377 19p12 19 21809174C> A null C F 297 297 missense 0.878 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs535954028 19p12 19 21809168T> C null E G 299 299 2.0E-4 missense 0.127 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs936607404 19p12 19 21809165C> A null C F 300 300 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1265253578 19p12 19 21809166A> G null C R 300 300 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs371668658 19p12 19 21809163C> G null A P 301 301 missense 0.089 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs371668658 19p12 19 21809163C> T null A T 301 301 missense 0.041 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs780207720 19p12 19 21809162G> A null A V 301 301 missense 0.06 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1272734106 19p12 19 21809160T> C null K E 302 302 missense 0.035 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs201696193 19p12 19 21809159T> A null K I 302 302 missense 0.797 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs201696193 19p12 19 21809159T> C null K R 302 302 missense 0.567 possibly damaging 0.07 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1348644799 19p12 19 21809157C> T null A T 303 303 missense 0.02 benign 0.16 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1473408585 19p12 19 21809144G> T null S Y 307 307 missense 0.01 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs745936842 19p12 19 21809132G> A null T I 311 311 missense 0.007 benign 0.22 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs748028937 19p12 19 21809126T> A null H L 313 313 missense 0.916 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs748028937 19p12 19 21809126T> C null H R 313 313 missense 0.916 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,gnomAD rs372419686 19p12 19 21809127G> A null H Y 313 313 missense 0.961 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1241008678 19p12 19 21809121T> A null K * 315 315 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1241008678 19p12 19 21809121T> C null K E 315 315 missense 0.071 benign 0.16 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs778599785 19p12 19 21809120T> A null K I 315 315 missense 0.354 benign 0.26 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs778599785 19p12 19 21809120T> C null K R 315 315 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1324757860 19p12 19 21809117A> G null I T 316 316 missense 0.042 benign 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1355975743 cosmic curated [Cosmic]: bone pubmed:23770606,cosmic_study:486 19p12 19 21809115G> A null H Y 317 317 missense 0.938 probably damaging 0.01 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1166313080 cosmic curated [Cosmic]: NS pubmed:24265154,cosmic_study:526 19p12 19 21809112G> T null P T 318 318 missense 0.0 benign 1.0 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1042555388 19p12 19 21809103T> C null K E 321 321 missense 0.457 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1215934713 19p12 19 21809102T> C null K R 321 321 missense 0.112 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs745543519 19p12 19 21809100G> C null P A 322 322 missense 0.806 possibly damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1395195210 19p12 19 21809099G> A null P L 322 322 missense 0.495 possibly damaging 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs745543519 19p12 19 21809100G> A null P S 322 322 missense 0.962 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs745543519 19p12 19 21809100G> T null P T 322 322 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1233795705 19p12 19 21809093T> G null K T 324 324 missense 0.0 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs755739864 19p12 19 21809082A> T null C S 328 328 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs749943837 19p12 19 21809078C> G null G A 329 329 missense 0.838 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1050226051 19p12 19 21809072G> T null A D 331 331 missense 0.028 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1481808404 19p12 19 21809073C> T null A T 331 331 missense 0.013 benign 0.13 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1486092875 19p12 19 21809065G> C null N K 333 333 missense 0.012 benign 0.35 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs764396290 19p12 19 21809063C> T null W * 334 334 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs763247059 19p12 19 21809062C> T null W * 334 334 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1194502095 19p12 19 21809060G> A null P L 335 335 missense 0.01 benign 0.61 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,gnomAD rs572801259 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21809061G> A null P S 335 335 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1224179065 19p12 19 21809058A> C null S A 336 336 missense 0.162 benign 0.1 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs777929282 19p12 19 21809054G> A null T I 337 337 missense 0.003 benign 0.29 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs777929282 19p12 19 21809054G> T null T N 337 337 missense 0.0 benign 0.7 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1304704747 19p12 19 21809051A> T null L H 338 338 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148905941 19p12 19 21809052G> C null L V 338 338 5.99E-4 missense 0.688 possibly damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1375618958 19p12 19 21809049T> G null T P 339 339 missense 0.312 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,TOPMed rs368830815 19p12 19 21809046T> C null K E 340 340 missense 0.001 benign 0.62 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1314242976 19p12 19 21809044T> G null K N 340 340 missense 0.062 benign 0.35 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs770998354 19p12 19 21809042T> C null H R 341 341 missense 0.973 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs908890514 19p12 19 21809038C> G null K N 342 342 missense 0.138 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs778846005 19p12 19 21809040T> G null K Q 342 342 missense 0.009 benign 0.83 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs754740668 19p12 19 21809036C> A null R I 343 343 missense 0.869 possibly damaging 0.24 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs754740668 19p12 19 21809036C> T null R K 343 343 missense 0.026 benign 0.21 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1181838337 19p12 19 21809031G> C null H D 345 345 missense 0.024 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1181838337 19p12 19 21809031G> T null H N 345 345 missense 0.436 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150475394 19p12 19 21809030T> C null H R 345 345 0.003994 missense 0.481 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1434041432 19p12 19 21809027G> A null T I 346 346 missense 0.63 possibly damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1314605428 19p12 19 21809028T> G null T P 346 346 missense 0.524 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1375825451 19p12 19 21809024C> T null G E 347 347 missense 0.789 possibly damaging 0.05 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1353654110 19p12 19 21809025C> T null G R 347 347 missense 0.886 possibly damaging 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs570749825 19p12 19 21809021T> G null E A 348 348 2.0E-4 missense 0.976 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1175350909 19p12 19 21809022C> T null E K 348 348 missense 0.966 probably damaging 0.07 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1482954549 19p12 19 21809015G> C null P R 350 350 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs755793153 19p12 19 21809016G> A null P S 350 350 missense 0.984 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1255386178 19p12 19 21809012T> C null Y C 351 351 missense 0.942 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs551937046 19p12 19 21809010T> C null T A 352 352 2.0E-4 missense 0.225 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs149679417 cosmic curated [Cosmic]: cervix, [Cosmic]: lung pubmed:22980975,cosmic_study:415,cosmic_study:431 19p12 19 21809009G> T null T K 352 352 missense 0.022 benign 1.0 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs752012077 19p12 19 21809006C> G null C S 353 353 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs764651013 19p12 19 21809001C> T null E K 355 355 missense 0.005 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1393829963 19p12 19 21809000T> A null E V 355 355 missense 0.325 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1400909762 19p12 19 21808997C> G null C S 356 356 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1459295657 19p12 19 21808994C> T null G D 357 357 missense 0.997 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139509645 19p12 19 21808995C> G null G R 357 357 2.0E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1459295657 19p12 19 21808994C> A null G V 357 357 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1158981791 19p12 19 21808990T> G null K N 358 358 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377026532 19p12 19 21808983T> C null N D 361 361 2.0E-4 missense 0.979 probably damaging 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs776877280 19p12 19 21808981G> T null N K 361 361 missense 0.986 probably damaging 0.32 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs776877280 19p12 19 21808981G> C null N K 361 361 missense 0.986 probably damaging 0.32 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1476072311 19p12 19 21808979T> C null Q R 362 362 missense 0.001 benign 0.61 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs971629409 19p12 19 21808967A> C null L R 366 366 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs774210252 19p12 19 21808958T> C null H R 369 369 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs747050303 19p12 19 21808959G> A null H Y 369 369 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs547840558 19p12 19 21808955T> G null K T 370 370 2.0E-4 missense 0.986 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs749131326 19p12 19 21808953T> C null R G 371 371 missense 0.207 benign 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs779972094 19p12 19 21808949A> C null I S 372 372 missense 0.73 possibly damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1020853522 19p12 19 21808941C> A null A S 375 375 missense 0.116 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1295677274 19p12 19 21808940G> A null A V 375 375 missense 0.215 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1436638826 19p12 19 21808937T> C null E G 376 376 missense 0.097 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes rs190825996 19p12 19 21808934T> C null K R 377 377 2.0E-4 missense 0.003 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1010351683 19p12 19 21808932A> G null F L 378 378 missense 0.0 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1393374199 [NCI-TCGA]: Variant assessed as Somatic; impact. 19p12 19 21808928T> C null Y C 379 379 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1462333280 19p12 19 21808929A> C null Y D 379 379 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1161779669 19p12 19 21808922C> A null C F 381 381 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1457608318 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 19p12 19 21808920T> C null T A 382 382 missense 0.036 benign 0.05 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs372503962 19p12 19 21808919G> A null T I 382 382 missense 0.201 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs372503962 19p12 19 21808919G> T null T K 382 382 missense 0.036 benign 0.37 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1457608318 19p12 19 21808920T> G null T P 382 382 missense 0.201 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,gnomAD rs368315519 19p12 19 21808914A> T null C S 384 384 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1447707106 19p12 19 21808913C> T null C Y 384 384 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1187883563 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue cosmic_study:377 19p12 19 21808910C> T null G D 385 385 missense 0.997 probably damaging 0.07 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs780829847 19p12 19 21808911C> G null G R 385 385 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1468820756 19p12 19 21808908C> T null E K 386 386 missense 0.001 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs781775296 19p12 19 21808904G> C null A G 387 387 missense 0.824 possibly damaging 0.05 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1355286404 19p12 19 21808902A> C null F V 388 388 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185493878 19p12 19 21808895C> T null R Q 390 390 2.0E-4 missense 0.041 benign 0.77 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs145530159 19p12 19 21808896G> A null R W 390 390 missense 0.861 possibly damaging 0.32 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568343438 19p12 19 21808887T> C null N D 393 393 missense 0.057 benign 0.69 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs753157047 19p12 19 21808885G> T null N K 393 393 missense 0.094 benign 0.97 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1442316353 19p12 19 21808883A> C null L R 394 394 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs193182605 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 19p12 19 21808880G> A null T I 395 395 2.0E-4 missense 0.005 benign 0.2 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs193182605 19p12 19 21808880G> T null T N 395 395 2.0E-4 missense 0.524 possibly damaging 0.24 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1397539397 19p12 19 21808878T> A null K * 396 396 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1397539397 19p12 19 21808878T> C null K E 396 396 missense 0.116 benign 0.65 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs760730032 19p12 19 21808874T> C null H R 397 397 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs766606555 19p12 19 21808875G> A null H Y 397 397 missense 0.916 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs915958088 19p12 19 21808867T> G null K N 399 399 missense 0.271 benign 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs773307492 19p12 19 21808866T> A null I F 400 400 missense 0.964 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs763005421 19p12 19 21808862T> A null H L 401 401 missense 0.013 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1450799649 19p12 19 21808860T> C null T A 402 402 missense 0.87 possibly damaging 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1353736944 19p12 19 21808859G> A null T I 402 402 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1450799649 19p12 19 21808860T> G null T P 402 402 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs879026549 19p12 19 21808856T> C null E G 403 403 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs879141470 19p12 19 21808854T> C null K E 404 404 missense 0.003 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1273308050 19p12 19 21808850T> A null K I 405 405 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs780776338 19p12 19 21808847G> T null P H 406 406 missense 0.548 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1347834242 19p12 19 21808848G> A null P S 406 406 missense 0.091 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,gnomAD rs746550129 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21808839A> G null C R 409 409 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs188259668 19p12 19 21808831T> G null E D 411 411 2.0E-4 missense 0.87 possibly damaging 0.05 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1195306123 19p12 19 21808830A> G null C R 412 412 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs546539875 19p12 19 21808826C> T null G D 413 413 3.99E-4 missense 0.248 benign 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs546539875 19p12 19 21808826C> A null G V 413 413 3.99E-4 missense 0.013 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1036576160 19p12 19 21808823T> C null K R 414 414 missense 0.948 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs755397348 19p12 19 21808813C> G null K N 417 417 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs754223302 19p12 19 21808805G> A null S L 420 420 missense 0.974 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs527838644 19p12 19 21808803T> C null K E 421 421 3.99E-4 missense 0.085 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs879124559 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21808801C> G null K N 421 421 missense 0.001 benign 0.77 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1412467577 19p12 19 21808796G> T null T N 423 423 missense 0.151 benign 0.22 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs879216529 19p12 19 21808794C> T null E K 424 424 missense 0.984 probably damaging 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs760925138 19p12 19 21808790T> G null H P 425 425 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs760925138 19p12 19 21808790T> C null H R 425 425 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1033698747 19p12 19 21808791G> A null H Y 425 425 missense 0.96 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs750561465 19p12 19 21808786C> G null K N 426 426 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1471410873 19p12 19 21808787T> G null K T 426 426 missense 0.986 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs761916227 19p12 19 21808784A> C null L * 427 427 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs767736275 19p12 19 21808785A> T null L I 427 427 missense 0.199 benign 0.35 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs775581313 19p12 19 21808781G> A null T I 428 428 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs560674353 19p12 19 21808779G> C null H D 429 429 2.0E-4 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs776464632 19p12 19 21808776T> G null T P 430 430 missense 0.0 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs770583040 19p12 19 21808764G> A null P S 434 434 missense 0.4 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs770583040 19p12 19 21808764G> T null P T 434 434 missense 0.323 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,TOPMed,gnomAD rs746708757 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21808757T> G null K T 436 436 missense 0.984 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1350162819 19p12 19 21808755A> T null C S 437 437 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs772788968 19p12 19 21808754C> T null C Y 437 437 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1236332464 19p12 19 21808748T> A null E V 439 439 missense 0.975 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs771586126 19p12 19 21808743C> A null G C 441 441 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs184231420 19p12 19 21808742C> T null G D 441 441 2.0E-4 missense 0.997 probably damaging 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs771586126 19p12 19 21808743C> T null G S 441 441 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1333534190 19p12 19 21808737C> A null A S 443 443 missense 0.987 probably damaging 0.09 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1389207622 19p12 19 21808730T> C null N S 445 445 missense 0.979 probably damaging 0.86 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1215122528 19p12 19 21808727C> T null W * 446 446 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568342313 19p12 19 21808726C> T null W * 446 446 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs755444569 19p12 19 21808725G> T null P T 447 447 missense 0.996 probably damaging 0.4 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs749659953 19p12 19 21808719T> C null T A 449 449 missense 0.979 probably damaging 0.66 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs756392688 19p12 19 21808716G> A null L F 450 450 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs757469499 19p12 19 21808705A> T null H Q 453 453 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs767789121 19p12 19 21808706T> C null H R 453 453 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs780200433 19p12 19 21808702G> C null N K 454 454 missense 0.003 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs751659726 19p12 19 21808703T> C null N S 454 454 missense 0.124 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1324052869 19p12 19 21808697A> G null I T 456 456 missense 0.964 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1207279755 19p12 19 21808695G> C null H D 457 457 missense 0.96 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs759540747 19p12 19 21808692T> C null T A 458 458 missense 0.87 possibly damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1274157878 19p12 19 21808691G> A null T I 458 458 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs776393899 19p12 19 21808688C> G null G A 459 459 missense 0.988 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1394240698 19p12 19 21808686C> T null E K 460 460 missense 0.966 probably damaging 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA rs760334254 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21808681T> G null K N 461 461 missense 0.989 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs544627657 19p12 19 21808680G> A null P S 462 462 2.0E-4 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs544627657 19p12 19 21808680G> T null P T 462 462 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148377521 19p12 19 21808674T> C null K E 464 464 9.98E-4 missense 0.079 benign 0.21 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs773824688 19p12 19 21808673T> G null K T 464 464 missense 0.003 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs558384217 19p12 19 21808670C> T null C Y 465 465 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1165141991 19p12 19 21808668C> T null E K 466 466 missense 0.979 probably damaging 0.53 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs984464377 19p12 19 21808664A> T null V E 467 467 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs201252231 19p12 19 21808660A> T null C * 468 468 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144229123 cosmic curated [Cosmic]: breast, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414,cosmic_study:419 19p12 19 21808658C> A null G V 469 469 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs746221385 19p12 19 21808649A> G null F S 472 472 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs757531400 19p12 19 21808645G> T null N K 473 473 missense 0.986 probably damaging 0.62 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs781605873 19p12 19 21808646T> C null N S 473 473 missense 0.979 probably damaging 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568341771 19p12 19 21808644G> A null Q * 474 474 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1234783675 19p12 19 21808643T> C null Q R 474 474 missense 0.916 probably damaging 0.51 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1247672216 19p12 19 21808632G> A null L F 478 478 missense 0.996 probably damaging 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs751784442 19p12 19 21808631A> C null L R 478 478 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs149571562 19p12 19 21808629T> C null T A 479 479 missense 0.87 possibly damaging 0.28 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1295428140 19p12 19 21808621A> T null H Q 481 481 missense 0.971 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs200283818 19p12 19 21808622T> C null H R 481 481 missense 0.96 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs753829937 19p12 19 21808619T> C null K R 482 482 missense 0.979 probably damaging 0.17 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1364285057 19p12 19 21808616C> A null R I 483 483 missense 0.987 probably damaging 0.2 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1364285057 19p12 19 21808616C> T null R K 483 483 missense 0.93 probably damaging 0.38 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1293962869 19p12 19 21808610T> C null H R 485 485 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1438328912 19p12 19 21808608T> C null T A 486 486 missense 0.87 possibly damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1461474048 19p12 19 21808604G> T null A E 487 487 missense 0.994 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1461474048 19p12 19 21808604G> A null A V 487 487 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1369703641 19p12 19 21808602C> T null E K 488 488 missense 0.966 probably damaging 0.05 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,TOPMed,gnomAD rs760588871 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19p12 19 21808595G> A null P L 490 490 missense 0.091 benign 0.04 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC rs766217155 19p12 19 21808596G> T null P T 490 490 missense 0.091 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs764964833 19p12 19 21808592T> C null Y C 491 491 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,TOPMed,gnomAD rs370200354 19p12 19 21808586C> T null C Y 493 493 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1166113979 19p12 19 21808583T> G null E A 494 494 missense 0.037 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs138296910 19p12 19 21808578A> T null C S 496 496 missense 0.937 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1487699538 19p12 19 21808572T> C null K E 498 498 missense 0.001 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1206162161 19p12 19 21808570T> G null K N 498 498 missense 0.358 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1246390414 19p12 19 21808571T> C null K R 498 498 missense 0.107 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs866204061 19p12 19 21808566A> C null F V 500 500 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs773949501 19p12 19 21808559C> T null R Q 502 502 missense 0.944 probably damaging 0.48 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1033089839 19p12 19 21808560G> A null R W 502 502 missense 0.995 probably damaging 0.25 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,gnomAD rs199705979 19p12 19 21808553G> C null S * 504 504 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs566321351 19p12 19 21808554A> G null S P 504 504 2.0E-4 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1301865099 19p12 19 21808551T> C null N D 505 505 missense 0.948 probably damaging 0.5 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1459238481 19p12 19 21808547A> G null L P 506 506 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1459238481 19p12 19 21808547A> C null L R 506 506 missense 0.99 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs929230243 19p12 19 21808539G> T null H N 509 509 missense 0.941 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs897859037 19p12 19 21808538T> C null H R 509 509 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1410069089 19p12 19 21808532T> A null K I 511 511 missense 0.996 probably damaging 0.3 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1371954878 19p12 19 21808526T> A null H L 513 513 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1371954878 19p12 19 21808526T> C null H R 513 513 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1360304639 cosmic curated [Cosmic]: endometrium cosmic_study:419 19p12 19 21808523A> G null I T 514 514 missense 0.005 benign 1.0 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs776122213 19p12 19 21808524T> C null I V 514 514 missense 0.053 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1236967875 19p12 19 21808516C> G null K N 516 516 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1178835229 19p12 19 21808511G> A null P L 518 518 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1045764458 19p12 19 21808512G> A null P S 518 518 missense 0.984 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1045764458 19p12 19 21808512G> T null P T 518 518 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs746284893 19p12 19 21808508T> C null Y C 519 519 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs770196661 19p12 19 21808509A> C null Y D 519 519 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs781707064 19p12 19 21808506T> A null K * 520 520 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs781707064 19p12 19 21808506T> C null K E 520 520 missense 0.951 probably damaging 0.15 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs889805392 19p12 19 21808502C> T null C Y 521 521 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1417854314 19p12 19 21808499T> G null E A 522 522 missense 0.979 probably damaging 0.07 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs536331309 19p12 19 21808496T> C null E G 523 523 missense 0.984 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs747239613 19p12 19 21808493C> T null C Y 524 524 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1483601380 19p12 19 21808481A> G null F S 528 528 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs777803776 19p12 19 21808472G> A null S F 531 531 missense 0.992 probably damaging 0.46 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs949997030 19p12 19 21808465C> A null K N 533 533 missense 0.99 probably damaging 0.76 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1310307088 19p12 19 21808467T> G null K Q 533 533 missense 0.99 probably damaging 0.62 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1282404498 19p12 19 21808460G> C null T S 535 535 missense 0.87 possibly damaging 0.28 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1228775948 19p12 19 21808458C> A null E * 536 536 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1228775948 19p12 19 21808458C> T null E K 536 536 missense 0.984 probably damaging 0.96 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1316314524 19p12 19 21808452T> G null K Q 538 538 missense 0.99 probably damaging 0.76 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs752718593 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19p12 19 21808449T> A null I L 539 539 missense 0.001 benign 0.11 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1368557582 19p12 19 21808448A> C null I R 539 539 missense 0.568 possibly damaging 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs752718593 19p12 19 21808449T> C null I V 539 539 missense 0.001 benign 0.2 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs780083833 19p12 19 21808445G> A null T I 540 540 missense 0.99 probably damaging 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs756019136 19p12 19 21808440T> C null T A 542 542 missense 0.025 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs750307096 19p12 19 21808428G> A null P S 546 546 missense 0.984 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1304016606 19p12 19 21808425A> G null Y H 547 547 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,gnomAD rs373631790 19p12 19 21808413C> T null E K 551 551 missense 0.966 probably damaging 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs761528488 19p12 19 21808406C> T null G D 553 553 missense 0.997 probably damaging 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs761528488 19p12 19 21808406C> A null G V 553 553 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs554390607 19p12 19 21808390A> C null H Q 558 558 2.0E-4 missense 0.211 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs751224291 19p12 19 21808391T> C null H R 558 558 missense 0.211 benign 0.83 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1410082191 19p12 19 21808388A> G null F S 559 559 missense 0.288 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,gnomAD rs762589553 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 19p12 19 21808386A> C null S A 560 560 missense 0.909 probably damaging 0.05 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs191638211 19p12 19 21808385G> A null S L 560 560 5.99E-4 missense 0.974 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed rs760153901 19p12 19 21808382A> T null I N 561 561 missense 0.361 benign 0.75 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed rs760153901 19p12 19 21808382A> G null I T 561 561 missense 0.005 benign 0.78 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145677006 19p12 19 21808383T> C null I V 561 561 2.0E-4 missense 0.053 benign 0.35 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1180121071 19p12 19 21808376G> T null T N 563 563 missense 0.975 probably damaging 0.14 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs777213962 19p12 19 21808370T> C null H R 565 565 missense 0.96 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs926130978 19p12 19 21808371G> A null H Y 565 565 missense 0.96 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1159804898 19p12 19 21808366C> G null K N 566 566 missense 0.003 benign 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs764083760 19p12 19 21808361A> G null I T 568 568 missense 0.964 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs771438539 19p12 19 21808355G> C null T S 570 570 missense 0.87 possibly damaging 0.18 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs926974599 19p12 19 21808340T> C null Y C 575 575 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1321771148 19p12 19 21808334C> A null C F 577 577 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1321771148 19p12 19 21808334C> T null C Y 577 577 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1437851206 19p12 19 21808332C> T null E K 578 578 missense 0.979 probably damaging 0.5 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1158296126 19p12 19 21808328T> C null E G 579 579 missense 0.435 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs755009019 19p12 19 21808322C> T null G D 581 581 missense 0.997 probably damaging 0.05 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs750362062 19p12 19 21808317C> G null A P 583 583 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1464660903 19p12 19 21808316G> A null A V 583 583 missense 0.987 probably damaging 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1423299414 19p12 19 21808310G> T null T N 585 585 missense 0.003 benign 0.91 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs781049145 19p12 19 21808308G> A null Q * 586 586 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1218715451 19p12 19 21808298T> C null N S 589 589 missense 0.041 benign 0.99 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs751307204 19p12 19 21808296G> A null L F 590 590 missense 0.996 probably damaging 0.07 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs763846945 19p12 19 21808295A> T null L H 590 590 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs879152451 19p12 19 21808289G> T null T K 592 592 missense 0.006 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs758010270 19p12 19 21808286T> C null H R 593 593 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs752354982 19p12 19 21808282C> G null K N 594 594 missense 0.99 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs764660079 19p12 19 21808281T> C null K E 595 595 missense 0.163 benign 0.18 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs950350179 19p12 19 21808279T> G null K N 595 595 missense 0.288 benign 0.12 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1332502219 19p12 19 21808280T> C null K R 595 595 missense 0.003 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs759060782 19p12 19 21808278T> C null I V 596 596 missense 0.811 possibly damaging 0.09 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs777338829 19p12 19 21808274T> G null H P 597 597 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1385085820 19p12 19 21808271G> A null T I 598 598 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1381111806 19p12 19 21808272T> G null T P 598 598 missense 0.985 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs761166182 19p12 19 21808269C> A null G * 599 599 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1387696351 19p12 19 21808268C> T null G E 599 599 missense 0.789 possibly damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs761166182 cosmic curated [Cosmic]: lung cosmic_study:583 19p12 19 21808269C> T null G R 599 599 missense 0.886 possibly damaging 0.07 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1422073468 19p12 19 21808266C> T null E K 600 600 missense 0.966 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs773431108 19p12 19 21808262T> A null K I 601 601 missense 0.889 possibly damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs760218843 cosmic curated [Cosmic]: endometrium cosmic_study:419 19p12 19 21808260A> G null F L 602 602 missense 0.0 benign 0.12 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs878968141 19p12 19 21808259A> G null F S 602 602 missense 0.069 benign 0.05 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,gnomAD rs137982117 19p12 19 21808257A> T null Y N 603 603 missense 0.993 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568339503 19p12 19 21808253T> A null K I 604 604 missense 0.99 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1451323679 19p12 19 21808249A> C null C W 605 605 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1384913851 19p12 19 21808250C> T null C Y 605 605 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs548001388 19p12 19 21808244T> C null E G 607 607 missense 0.984 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1322616094 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21808245C> T null E K 607 607 missense 0.966 probably damaging 0.07 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1388230661 19p12 19 21808236T> G null K Q 610 610 missense 0.934 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1451935481 19p12 19 21808226G> T null T N 613 613 missense 0.306 benign 0.75 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs748344967 19p12 19 21808217G> A null S L 616 616 missense 0.974 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1340739038 19p12 19 21808206T> C null T A 620 620 missense 0.03 benign 0.74 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1264016645 19p12 19 21808202T> C null H R 621 621 missense 0.96 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568339283 19p12 19 21808203G> A null H Y 621 621 missense 0.96 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1234474606 19p12 19 21808196T> A null K I 623 623 missense 0.996 probably damaging 0.21 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,NCI-TCGA,TOPMed,gnomAD rs749354553 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21808195T> G null K N 623 623 missense 0.99 probably damaging 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1200874055 19p12 19 21808193A> G null I T 624 624 missense 0.964 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs150351501 19p12 19 21808187G> A null T I 626 626 missense 0.01 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs373142632 19p12 19 21808184C> A null G V 627 627 missense 0.838 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,TOPMed,gnomAD rs532102661 cosmic curated [Cosmic]: endometrium cosmic_study:419 19p12 19 21808181C> T null G E 628 628 2.0E-4 missense 0.453 possibly damaging 1.0 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1394294462 19p12 19 21808176G> T null P T 630 630 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568339087 19p12 19 21808172T> C null Y C 631 631 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1167293246 19p12 19 21808167A> G null C R 633 633 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs140393076 19p12 19 21808166C> T null C Y 633 633 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs758147671 19p12 19 21808140G> A null Q * 642 642 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1396871874 19p12 19 21808136A> G null F S 643 643 missense 0.009 benign 0.65 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs771611737 19p12 19 21808133G> C null S * 644 644 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs771611737 19p12 19 21808133G> A null S L 644 644 missense 0.974 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs764972611 19p12 19 21808131T> C null T A 645 645 missense 0.053 benign 0.57 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs369623367 19p12 19 21808128G> A null L F 646 646 missense 0.996 probably damaging 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1279619094 19p12 19 21808122T> C null K E 648 648 missense 0.069 benign 0.79 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,gnomAD rs377477408 19p12 19 21808118T> C null H R 649 649 missense 0.96 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1415525535 19p12 19 21808119G> A null H Y 649 649 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1201555777 19p12 19 21808116T> C null K E 650 650 missense 0.979 probably damaging 0.14 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144618406 19p12 19 21808114C> G null K N 650 650 7.99E-4 missense 0.99 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1223263379 19p12 19 21808113T> C null I V 651 651 missense 0.001 benign 0.25 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs142051184 19p12 19 21808109A> G null I T 652 652 missense 0.061 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs878922275 19p12 19 21808100T> C null E G 655 655 missense 0.003 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1414975525 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 19p12 19 21808091G> C null P R 658 658 missense 0.997 probably damaging 0.01 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed rs373300019 19p12 19 21808092G> T null P T 658 658 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568338644 19p12 19 21808086T> C null K E 660 660 missense 0.951 probably damaging 0.19 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1469082372 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21808082C> T null C Y 661 661 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC rs774493242 19p12 19 21808073C> T null C Y 664 664 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs897752753 19p12 19 21808070C> T null G D 665 665 missense 0.997 probably damaging 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1468241989 19p12 19 21808068T> C null K E 666 666 missense 0.951 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs768859071 19p12 19 21808067T> A null K I 666 666 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs775524804 19p12 19 21808046G> A null T I 673 673 missense 0.007 benign 0.24 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs775524804 cosmic curated [Cosmic]: stomach cosmic_study:371 19p12 19 21808046G> T null T N 673 673 missense 0.003 benign 0.69 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1166313991 19p12 19 21808047T> G null T P 673 673 missense 0.189 benign 0.27 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs746926009 19p12 19 21808041T> C null T A 675 675 missense 0.87 possibly damaging 0.27 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1195982948 19p12 19 21808038T> C null K E 676 676 missense 0.003 benign 0.92 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs879169167 19p12 19 21808037T> G null K T 676 676 missense 0.109 benign 0.54 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs777710370 19p12 19 21808034T> A null H L 677 677 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs777710370 19p12 19 21808034T> C null H R 677 677 missense 0.96 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs199855387 19p12 19 21808028A> T null I K 679 679 missense 0.0 benign 0.5 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1421702610 19p12 19 21808029T> A null I L 679 679 missense 0.0 benign 0.14 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs747973847 19p12 19 21808027T> C null I M 679 679 missense 0.116 benign 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs199855387 cosmic curated [Cosmic]: lung cosmic_study:417 19p12 19 21808028A> C null I R 679 679 missense 0.003 benign 1.0 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1421702610 19p12 19 21808029T> C null I V 679 679 missense 0.015 benign 0.15 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1443858897 19p12 19 21808025A> G null I T 680 680 missense 0.003 benign 0.07 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs778750453 19p12 19 21808022T> C null H R 681 681 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1350141896 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21808023G> A null H Y 681 681 missense 0.916 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs528030354 19p12 19 21808019G> T null T N 682 682 3.99E-4 missense 0.975 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1194859153 19p12 19 21808007G> A null P L 686 686 missense 0.999 probably damaging 0.1 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1248162442 19p12 19 21808008G> A null P S 686 686 missense 0.996 probably damaging 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs753496175 19p12 19 21808004T> C null Y C 687 687 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1342245485 19p12 19 21808005A> G null Y H 687 687 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs779738993 19p12 19 21807997A> C null C W 689 689 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs954097648 19p12 19 21807993C> G null E Q 691 691 missense 0.966 probably damaging 0.07 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs755580125 19p12 19 21807990A> T null C S 692 692 missense 0.937 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1369915234 19p12 19 21807986C> T null G D 693 693 missense 0.997 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs750905749 19p12 19 21807983T> C null K R 694 694 missense 0.029 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1398603345 19p12 19 21807981C> T null A T 695 695 missense 0.991 probably damaging 0.11 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs879040311 19p12 19 21807973T> G null K N 697 697 missense 0.003 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs879105285 19p12 19 21807971A> T null L Q 698 698 missense 0.007 benign 0.48 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1406791608 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21807972G> C null L V 698 698 missense 0.099 benign 0.55 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs768052102 19p12 19 21807965G> T null S * 700 700 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed rs762150744 19p12 19 21807962G> T null T N 701 701 missense 0.003 benign 0.61 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1240681280 19p12 19 21807959A> G null L P 702 702 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs751889230 19p12 19 21807957A> T null S T 703 703 missense 0.001 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs878857817 19p12 19 21807953G> A null T I 704 704 missense 0.02 benign 0.2 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs878857817 19p12 19 21807953G> T null T K 704 704 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs764349573 19p12 19 21807954T> A null T S 704 704 missense 0.007 benign 0.42 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs763194714 19p12 19 21807950T> C null H R 705 705 missense 0.96 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs769778691 19p12 19 21807944A> T null I N 707 707 missense 0.719 possibly damaging 0.09 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs769778691 19p12 19 21807944A> G null I T 707 707 missense 0.546 possibly damaging 0.13 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1226703594 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21807939G> A null H Y 709 709 missense 0.916 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs773093344 19p12 19 21807936T> C null T A 710 710 missense 0.87 possibly damaging 0.05 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1063324 19p12 19 21807930C> T null E K 712 712 missense 0.966 probably damaging 0.1 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs772018323 19p12 19 21807927T> C null K E 713 713 missense 0.951 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1245172569 19p12 19 21807926T> A null K I 713 713 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs772018323 19p12 19 21807927T> G null K Q 713 713 missense 0.934 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs747946141 19p12 19 21807923G> A null P L 714 714 missense 0.594 possibly damaging 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1428353557 19p12 19 21807920T> C null Y C 715 715 missense 0.783 possibly damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1049169 19p12 19 21807913A> T null C * 717 717 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1049168 19p12 19 21807914C> T null C Y 717 717 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1448337039 19p12 19 21807912C> T null E K 718 718 missense 0.979 probably damaging 0.6 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1344275856 cosmic curated [Cosmic]: stomach cosmic_study:371 19p12 19 21807909T> C null K E 719 719 missense 0.001 benign 1.0 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs778877142 19p12 19 21807905C> T null C Y 720 720 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs200350674 19p12 19 21807902C> T null G D 721 721 missense 0.997 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1327351325 19p12 19 21807896G> C null A G 723 723 missense 0.987 probably damaging 0.03 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs748950106 19p12 19 21807888G> A null R * 726 726 stop gained 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs748950106 19p12 19 21807888G> C null R G 726 726 missense 0.118 benign 0.32 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs560664191 19p12 19 21807887C> T null R Q 726 726 2.0E-4 missense 0.0 benign 0.82 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs749942317 19p12 19 21807884G> C null S C 727 727 missense 0.708 possibly damaging 0.19 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs749942317 19p12 19 21807884G> A null S F 727 727 missense 0.003 benign 0.69 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1392562709 19p12 19 21807881G> A null S L 728 728 missense 0.974 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs757759427 19p12 19 21807876G> A null L F 730 730 missense 0.996 probably damaging 0.1 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1247604727 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21807875A> G null L P 730 730 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs764447685 19p12 19 21807872A> G null I T 731 731 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs186799586 19p12 19 21807873T> C null I V 731 731 2.0E-4 missense 0.023 benign 0.16 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1237185982 19p12 19 21807869T> G null E A 732 732 missense 0.079 benign 0.7 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1291147275 19p12 19 21807870C> T null E K 732 732 missense 0.079 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs763246880 19p12 19 21807866T> A null H L 733 733 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs763246880 19p12 19 21807866T> C null H R 733 733 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC rs752976728 19p12 19 21807864T> C null K E 734 734 missense 0.979 probably damaging 0.18 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs765494319 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 19p12 19 21807863T> C null K R 734 734 missense 0.979 probably damaging 0.27 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1417251929 19p12 19 21807860T> A null K I 735 735 missense 0.628 possibly damaging 0.29 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1297613516 19p12 19 21807857A> T null I N 736 736 missense 0.989 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1212688346 19p12 19 21807855G> T null H N 737 737 missense 0.941 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs770871031 19p12 19 21807852T> C null T A 738 738 missense 0.87 possibly damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1206370612 19p12 19 21807845T> C null E G 740 740 missense 0.003 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1363317472 cosmic curated [Cosmic]: NS, [Cosmic]: lung pubmed:22980975,pubmed:24265154,cosmic_study:431,cosmic_study:526 19p12 19 21807843G> T null Q K 741 741 missense 0.0 benign 1.0 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1168980747 19p12 19 21807839G> A null P L 742 742 missense 0.31 benign 0.05 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1168980747 19p12 19 21807839G> C null P R 742 742 missense 0.86 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1372997833 19p12 19 21807840G> A null P S 742 742 missense 0.4 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145094878 cosmic curated [Cosmic]: liver cosmic_study:322 19p12 19 21807836T> C null Y C 743 743 3.99E-4 missense 0.997 probably damaging 0.01 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs139567478 19p12 19 21807834T> C null K E 744 744 missense 0.951 probably damaging 0.21 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1048912642 19p12 19 21807830C> T null C Y 745 745 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs769454332 19p12 19 21807828C> T null E K 746 746 missense 0.218 benign 0.52 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs769454332 19p12 19 21807828C> G null E Q 746 746 missense 0.367 benign 0.17 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs745418616 19p12 19 21807821C> T null C Y 748 748 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1249652383 19p12 19 21807806T> C null N S 753 753 missense 0.225 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1045406575 19p12 19 21807803T> C null Y C 754 754 missense 0.794 possibly damaging 0.21 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs756655672 19p12 19 21807804A> T null Y N 754 754 missense 0.361 benign 0.32 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs147917533 19p12 19 21807800G> A null S F 755 755 missense 0.03 benign 0.74 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs758829680 19p12 19 21807795G> T null H N 757 757 missense 0.001 benign 0.65 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs753032016 19p12 19 21807794T> G null H P 757 757 missense 0.409 benign 0.26 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs758829680 19p12 19 21807795G> A null H Y 757 757 missense 0.255 benign 0.41 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs926155373 19p12 19 21807786T> C null T A 760 760 missense 0.212 benign 0.61 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs765429589 19p12 19 21807782T> C null H R 761 761 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs770254802 19p12 19 21807778C> A null K N 762 762 missense 0.99 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1367597861 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p12 19 21807776C> A null R I 763 763 missense 0.001 benign 0.2 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1367597861 19p12 19 21807776C> T null R K 763 763 missense 0.003 benign 0.3 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1392464542 19p12 19 21807775T> A null R S 763 763 missense 0.149 benign 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs753971795 19p12 19 21807770T> C null H R 765 765 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1307096544 19p12 19 21807767G> T null T N 766 766 missense 0.975 probably damaging 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1226217132 19p12 19 21807765T> C null K E 767 767 missense 0.011 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1267160914 19p12 19 21807764T> C null K R 767 767 missense 0.288 benign 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs1568336492 19p12 19 21807758T> G null Q P 769 769 missense 0.359 benign 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs766481468 19p12 19 21807756G> C null P A 770 770 missense 0.943 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1335045564 19p12 19 21807755G> A null P L 770 770 missense 0.996 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs766481468 19p12 19 21807756G> A null P S 770 770 missense 0.984 probably damaging 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC rs760775432 19p12 19 21807750T> G null K Q 772 772 missense 0.934 probably damaging 0.08 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs562965132 19p12 19 21807747A> G null C R 773 773 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1468532566 cosmic curated [Cosmic]: cervix cosmic_study:415 19p12 19 21807744T> C null K E 774 774 missense 0.003 benign 1.0 tolerated 1 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1428974448 19p12 19 21807742T> G null K N 774 774 missense 0.382 benign 0.53 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1428974448 19p12 19 21807742T> A null K N 774 774 missense 0.382 benign 0.53 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs764119547 19p12 19 21807739T> G null E D 775 775 missense 0.272 benign 0.05 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1160228230 19p12 19 21807740T> C null E G 775 775 missense 0.777 possibly damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs762879147 19p12 19 21807734C> T null G D 777 777 missense 0.997 probably damaging 0.05 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs936242564 19p12 19 21807729C> A null A S 779 779 missense 0.266 benign 0.12 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1321180268 19p12 19 21807716T> A null Y F 783 783 missense 0.352 benign 0.73 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs775331290 19p12 19 21807717A> G null Y H 783 783 missense 0.656 possibly damaging 0.54 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs926134750 19p12 19 21807704G> A null T I 787 787 missense 0.994 probably damaging 0.18 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1177648910 19p12 19 21807702T> C null T A 788 788 missense 0.028 benign 0.52 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1228626473 19p12 19 21807701G> T null T K 788 788 missense 0.005 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs376749414 19p12 19 21807698T> C null H R 789 789 missense 0.96 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs776090083 19p12 19 21807695T> C null N S 790 790 missense 0.229 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1380574040 19p12 19 21807692T> C null K R 791 791 missense 0.0 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs770486585 19p12 19 21807690T> A null I F 792 792 missense 0.964 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs778294875 19p12 19 21807678C> G null E Q 796 796 missense 0.414 benign 0.06 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1321575300 19p12 19 21807675T> G null K Q 797 797 missense 0.934 probably damaging 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1362276189 19p12 19 21807671A> G null L P 798 798 missense 0.003 benign 1.0 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149837414 19p12 19 21807672G> C null L V 798 798 2.0E-4 missense 0.359 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1462946775 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 19p12 19 21807668T> C null Y C 799 799 missense 0.703 possibly damaging 0.0 deleterious 1 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs80354263 19p12 19 21807662G> T null P H 801 801 0.003594 missense 0.003 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs80354263 19p12 19 21807662G> C null P R 801 801 0.003594 missense 0.246 benign 0.02 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1185379146 19p12 19 21807663G> A null P S 801 801 missense 0.167 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1242314715 19p12 19 21807660C> T null E K 802 802 missense 0.576 possibly damaging 0.16 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ESP,ExAC,TOPMed,gnomAD rs371024943 19p12 19 21807653A> G null V A 804 804 missense 0.034 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs558568502 19p12 19 21807654C> G null V L 804 804 3.99E-4 missense 0.034 benign 0.04 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,gnomAD rs558568502 19p12 19 21807654C> T null V M 804 804 3.99E-4 missense 0.549 possibly damaging 0.0 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed,gnomAD rs1378151047 19p12 19 21807650G> A null T I 805 805 missense 0.264 benign 0.01 deleterious 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs750497530 19p12 19 21807645T> C null I V 807 807 missense 0.01 benign 0.3 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1316453153 19p12 19 21807638G> A null T I 809 809 missense 0.264 benign 0.22 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1316453153 19p12 19 21807638G> C null T R 809 809 missense 0.055 benign 0.19 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs140896880 19p12 19 21807636T> C null T A 810 810 2.0E-4 missense 0.015 benign 0.76 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 gnomAD rs1382682436 19p12 19 21807635G> A null T I 810 810 missense 0.0 benign 0.2 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 1000Genomes,ExAC,TOPMed,gnomAD rs140896880 19p12 19 21807636T> G null T P 810 810 2.0E-4 missense 0.125 benign 0.27 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs763005348 19p12 19 21807633G> A null P S 811 811 missense 0.0 benign 0.69 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs763005348 19p12 19 21807633G> T null P T 811 811 missense 0.001 benign 0.4 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 TOPMed rs1310317774 19p12 19 21807629T> A null Q L 812 812 missense 0.009 benign 0.09 tolerated 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,TOPMed,gnomAD rs775251261 19p12 19 21807617T> G null N T 816 816 missense 0.005 benign 0.73 tolerated - low confidence 0 A0A087WSW2 ZNF43 Zinc finger protein 43 Ensembl rs769232276 19p12 19 21807615T> C null I V 817 817 missense 0.015 benign 0.59 tolerated - low confidence 0 A0A087WSW2 ZNF43 Zinc finger protein 43 ExAC,gnomAD rs759238845 19p12 19 21807610T> G null K N 818 818 missense 0.895 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1235277875 1q21.1 1 143971114C> T null D N 10 10 missense 0.105 benign 0.37 tolerated 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1317773983 1q21.1 1 143971105C> T null V M 13 13 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1197334495 1q21.1 1 143971099T> G null I L 15 15 missense 0.007 benign 0.5 tolerated 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1438806803 1q21.1 1 143971090A> G null C R 18 18 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1208951571 1q21.1 1 143971089C> T null C Y 18 18 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1235447609 1q21.1 1 143971071A> C null V G 24 24 missense 0.844 possibly damaging 0.1 tolerated 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1475897491 1q21.1 1 143971068A> G null L P 25 25 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1422298330 1q21.1 1 143971056C> T null G E 29 29 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1476779104 1q21.1 1 143971035G> A null A V 36 36 missense 0.841 possibly damaging 0.03 deleterious 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1169625737 1q21.1 1 143971030T> C null T A 38 38 missense 0.517 possibly damaging 0.33 tolerated 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1396899834 1q21.1 1 143971020T> C null D G 41 41 missense 0.614 possibly damaging 0.04 deleterious 0 A0A087WSW5 FAM72C Protein FAM72C TOPMed rs1429279845 1q21.1 1 143968942T> C null D G 71 71 missense 0.452 possibly damaging 0.03 deleterious 0 A0A087WSW5 FAM72C Protein FAM72C Ensembl rs1558540436 1q21.1 1 143956452G> T null A D 87 87 missense 0.484 possibly damaging 0.09 tolerated - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs768279945 10q23.33 10 94562710C> G null Q E 2 2 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1179443675 10q23.33 10 94562712A> T null Q H 2 2 missense 0.301 benign 0.0 deleterious - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs780887609 10q23.33 10 94562717A> G null K R 4 4 missense 0.0 benign 0.14 tolerated - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs1020041838 10q23.33 10 94562719A> G null R G 5 5 missense 0.009 benign 0.02 deleterious - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs1419761700 10q23.33 10 94571388G> T null E * 8 8 stop gained 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs776946604 10q23.33 10 94571391A> G null I V 9 9 missense 0.992 probably damaging 0.06 tolerated - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1433426013 10q23.33 10 94571397T> A null S T 11 11 missense 0.755 possibly damaging 0.09 tolerated - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs968345662 10q23.33 10 94571401T> C null V A 12 12 missense 0.045 benign 0.75 tolerated - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs760959215 10q23.33 10 94571400G> A null V M 12 12 missense 0.967 probably damaging 0.12 tolerated - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1368971434 10q23.33 10 94571403G> T null A S 13 13 missense 0.121 benign 0.14 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1368971434 10q23.33 10 94571403G> A null A T 13 13 missense 0.615 possibly damaging 0.06 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs750499200 10q23.33 10 94571423G> T null E D 19 19 missense 0.003 benign 0.21 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs763005862 10q23.33 10 94571427G> A null E K 21 21 missense 0.007 benign 0.31 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs767241197 10q23.33 10 94573961A> C null D A 22 22 missense 0.087 benign 0.09 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs767241197 10q23.33 10 94573961A> G null D G 22 22 missense 0.127 benign 0.11 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs755929983 10q23.33 10 94573970C> T null S F 25 25 missense 0.418 benign 0.2 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs752476171 10q23.33 10 94573969T> A null S T 25 25 missense 0.003 benign 0.6 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs755929983 10q23.33 10 94573970C> A null S Y 25 25 missense 0.575 possibly damaging 0.31 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1163114791 10q23.33 10 94573972T> C null S P 26 26 missense 0.02 benign 0.15 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs753484878 10q23.33 10 94573976C> T null S F 27 27 missense 0.575 possibly damaging 0.03 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1430928557 10q23.33 10 94573979C> T null T I 28 28 missense 0.0 benign 0.16 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1430928557 10q23.33 10 94573979C> A null T N 28 28 missense 0.0 benign 0.38 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1348121888 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.33 10 94573984C> T null L F 30 30 missense 0.047 benign 0.03 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1440748520 10q23.33 10 94573987T> G null C G 31 31 missense 0.096 benign 0.37 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs778600918 10q23.33 10 94573988G> C null C S 31 31 missense 0.007 benign 0.73 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs778600918 10q23.33 10 94573988G> A null C Y 31 31 missense 0.272 benign 0.05 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs747456467 10q23.33 10 94573995A> C null E D 33 33 missense 0.622 possibly damaging 0.04 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs755559194 10q23.33 10 94573999C> G null L V 35 35 missense 0.011 benign 0.63 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1342849171 10q23.33 10 94574017T> G null S A 41 41 missense 0.093 benign 0.09 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,NCI-TCGA,TOPMed,gnomAD rs781780355 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 10q23.33 10 94574018C> T null S L 41 41 missense 0.49 possibly damaging 0.02 deleterious 1 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1482120787 10q23.33 10 94574036A> G null D G 47 47 missense 0.447 possibly damaging 0.15 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs142677560 10q23.33 10 94574051C> T null T M 52 52 missense 0.636 possibly damaging 0.02 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs142677560 10q23.33 10 94574051C> G null T R 52 52 missense 0.67 possibly damaging 0.1 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1180526739 10q23.33 10 94574059C> G null Q E 55 55 missense 0.0 benign 0.83 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1450435768 10q23.33 10 94574073C> A null F L 59 59 missense 0.001 benign 0.66 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1385029658 10q23.33 10 94574072T> A null F Y 59 59 missense 0.001 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1171041972 10q23.33 10 94574074T> A null F I 60 60 missense 0.025 benign 0.27 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs956744357 10q23.33 10 94574076T> A null F L 60 60 missense 0.003 benign 0.71 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1187594412 10q23.33 10 94574078T> C null F S 61 61 missense 0.009 benign 0.13 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1264527962 10q23.33 10 94574089C> T null R W 65 65 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl,dbSNP rs879253735 [ClinVar]: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 pubmed:26216346 10q23.33 10 94574092A> T null K * 66 66 stop gained 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4) MIM:616911 ClinVar:RCV000210911 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs1055169063 10q23.33 10 94574094G> C null K N 66 66 missense 0.182 benign 0.06 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs759670581 10q23.33 10 94574095T> C null C R 67 67 missense 0.038 benign 0.05 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs767439235 10q23.33 10 94574098A> C null N H 68 68 missense 0.045 benign 0.05 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1308854161 cosmic curated [Cosmic]: pancreas cosmic_study:328 10q23.33 10 94574099A> G null N S 68 68 missense 0.034 benign 0.1 tolerated 1 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs894904604 10q23.33 10 94574101G> T null G C 69 69 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1276272093 10q23.33 10 94574105A> C null Q P 70 70 missense 0.012 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs147348208 10q23.33 10 94574107C> G null P A 71 71 missense 0.015 benign 0.41 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1365705057 cosmic curated [Cosmic]: large_intestine cosmic_study:376 10q23.33 10 94574110G> A null V I 72 72 missense 0.007 benign 0.07 tolerated 1 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs760498787 10q23.33 10 94574116T> G null F V 74 74 missense 0.037 benign 0.51 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1368221972 10q23.33 10 94574119C> T null Q * 75 75 stop gained 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs753493390 10q23.33 10 94574146G> C null V L 84 84 missense 0.021 benign 0.02 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1195370295 10q23.33 10 94574151G> A null M I 85 85 missense 0.837 possibly damaging 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1466354150 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 10q23.33 10 94574153G> A null R Q 86 86 missense 0.655 possibly damaging 0.0 deleterious 1 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1279408343 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.33 10 94574164G> A null V I 90 90 missense 0.007 benign 0.95 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1444146912 10q23.33 10 94574176G> C null E Q 94 94 missense 0.32 benign 0.11 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1340339705 10q23.33 10 94574614G> A null V I 118 118 missense 0.011 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs760563346 10q23.33 10 94574623A> G null I V 121 121 missense 0.589 possibly damaging 0.05 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs768434287 10q23.33 10 94574630C> T null T I 123 123 missense 0.005 benign 0.31 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed rs776307280 10q23.33 10 94574633T> C null I T 124 124 missense 0.415 benign 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1022275197 10q23.33 10 94574632A> G null I V 124 124 missense 0.009 benign 0.25 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs761729522 10q23.33 10 94574636C> G null A G 125 125 missense 0.101 benign 0.06 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs986265069 10q23.33 10 94574692A> G null T A 144 144 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1403224288 10q23.33 10 94574698C> T null P S 146 146 missense 0.037 benign 0.28 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1403224288 10q23.33 10 94574698C> A null P T 146 146 missense 0.06 benign 0.1 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1330145415 10q23.33 10 94574706G> A null W * 148 148 stop gained 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1197018168 10q23.33 10 94574708T> C null M T 149 149 missense 0.053 benign 0.06 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1230474677 10q23.33 10 94574710G> A null A T 150 150 missense 0.013 benign 0.19 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1317468639 10q23.33 10 94574728A> T null T S 156 156 missense 0.047 benign 0.08 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1259113710 10q23.33 10 94574735A> G null D G 158 158 missense 0.0 benign 0.17 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs886158385 10q23.33 10 94576666C> G null P R 160 160 missense 0.096 benign 0.04 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,NCI-TCGA,gnomAD rs761675110 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.33 10 94576668A> G null T A 161 161 missense 0.015 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ExAC,gnomAD rs535102456 10q23.33 10 94576672T> C null M T 162 162 2.0E-4 missense 0.053 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs1041580881 10q23.33 10 94576671A> G null M V 162 162 missense 0.0 benign 0.58 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200482346 10q23.33 10 94576686A> G null T A 167 167 2.0E-4 missense 0.003 benign 0.45 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200482346 10q23.33 10 94576686A> C null T P 167 167 2.0E-4 missense 0.011 benign 0.4 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs773719571 10q23.33 10 94576694G> T null E D 169 169 missense 0.0 benign 0.52 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs749481100 10q23.33 10 94576698C> T null R C 171 171 missense 0.077 benign 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs759151955 10q23.33 10 94576703A> C null Q H 172 172 missense 0.0 benign 0.55 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs754419257 10q23.33 10 94576710G> C null V L 175 175 missense 0.0 benign 0.9 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs757569911 10q23.33 10 94576720T> C null I T 178 178 missense 0.031 benign 0.02 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs765622878 10q23.33 10 94576723A> G null Y C 179 179 missense 0.027 benign 0.18 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs765622878 10q23.33 10 94576723A> T null Y F 179 179 missense 0.0 benign 0.72 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs747059168 10q23.33 10 94576729G> T null R L 181 181 missense 0.015 benign 0.37 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs747059168 10q23.33 10 94576729G> A null R Q 181 181 missense 0.007 benign 0.55 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,NCI-TCGA,TOPMed,gnomAD rs555694666 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.33 10 94576728C> T null R W 181 181 missense 0.655 possibly damaging 0.03 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ExAC,TOPMed,gnomAD rs201040701 10q23.33 10 94576731A> G null K E 182 182 2.0E-4 missense 0.001 benign 0.47 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1439127169 10q23.33 10 94576744A> G null Q R 186 186 missense 0.005 benign 0.45 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1372273537 10q23.33 10 94576747T> C null I T 187 187 missense 0.006 benign 0.27 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1296521550 cosmic curated [Cosmic]: oesophagus cosmic_study:582 10q23.33 10 94576761A> G null I V 192 192 missense 0.005 benign 0.49 tolerated 1 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,gnomAD rs139215283 10q23.33 10 94576765C> T null T M 193 193 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs78890972 10q23.33 10 94576773G> A null E K 196 196 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1171137888 10q23.33 10 94576791C> G null R G 202 202 missense 0.569 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1245640265 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 10q23.33 10 94576792G> A null R Q 202 202 missense 0.041 benign 0.1 tolerated 1 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs757695351 10q23.33 10 94576794A> C null N H 203 203 missense 0.0 benign 0.06 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1344897044 10q23.33 10 94576797G> A null A T 204 204 missense 0.001 benign 0.38 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,NCI-TCGA,TOPMed,gnomAD rs770460162 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 10q23.33 10 94576798C> T null A V 204 204 missense 0.0 benign 0.4 tolerated 1 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs1014094607 10q23.33 10 94576803C> A null Q K 206 206 missense 0.007 benign 0.32 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs763173493 10q23.33 10 94581330G> A null C Y 208 208 missense 0.0 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs377515394 10q23.33 10 94581333A> G null Y C 209 209 missense 0.357 benign 0.19 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1180504505 10q23.33 10 94581339A> G null K R 211 211 missense 0.498 possibly damaging 0.06 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,gnomAD rs371141511 10q23.33 10 94581375A> G null N S 223 223 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1480111803 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.33 10 94581386C> T null R C 227 227 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1039050797 10q23.33 10 94581387G> A null R H 227 227 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs778798642 10q23.33 10 94581394C> G null I M 229 229 missense 0.615 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs745459994 10q23.33 10 94581403A> C null L F 232 232 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs771730256 10q23.33 10 94581408G> T null R L 234 234 missense 0.009 benign 0.28 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,NCI-TCGA,TOPMed,gnomAD rs771730256 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.33 10 94581408G> A null R Q 234 234 missense 0.009 benign 0.39 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1177496694 10q23.33 10 94581411T> C null F S 235 235 missense 0.907 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs746514599 10q23.33 10 94581414A> G null N S 236 236 missense 0.003 benign 0.79 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs768173330 10q23.33 10 94581417C> T null A V 237 237 missense 0.135 benign 0.32 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1236198565 10q23.33 10 94581431C> G null L V 242 242 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs1252907222 10q23.33 10 94581443A> C null T P 246 246 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1370686959 10q23.33 10 94581454A> C null Q H 249 249 missense 0.527 possibly damaging 0.04 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs763549682 10q23.33 10 94581459A> G null N S 251 251 missense 0.559 possibly damaging 0.02 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1330968874 10q23.33 10 94581471T> G null L R 255 255 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs759860010 10q23.33 10 94581473T> C null W R 256 256 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs773907756 10q23.33 10 94581490T> G null F L 261 261 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,gnomAD rs147615331 10q23.33 10 94582979G> A null D N 278 278 2.0E-4 missense 0.455 possibly damaging 0.08 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs746232049 10q23.33 10 94582983T> G null I S 279 279 missense 0.209 benign 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1407812300 10q23.33 10 94582985A> G null T A 280 280 missense 0.006 benign 0.11 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1407812300 10q23.33 10 94582985A> T null T S 280 280 missense 0.0 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs144298342 10q23.33 10 94582990T> G null S R 281 281 missense 0.003 benign 0.1 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs146569050 [ClinVar]: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 10q23.33 10 94582991C> G null L V 282 282 7.99E-4 missense 0.018 benign 0.38 tolerated 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4) MIM:616911 ClinVar:RCV001000599 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1365590504 10q23.33 10 94583000A> G null T A 285 285 missense 0.001 benign 0.72 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1301798399 10q23.33 10 94583012A> G null I V 289 289 missense 0.328 benign 0.14 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs932446229 10q23.33 10 94583015A> G null I V 290 290 missense 0.011 benign 0.64 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1317830811 10q23.33 10 94588247T> G null L V 311 311 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs980745949 10q23.33 10 94588292C> T null R * 326 326 stop gained 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs773165542 10q23.33 10 94588293G> A null R Q 326 326 missense 0.802 possibly damaging 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs779583208 10q23.33 10 94588298G> A null V I 328 328 missense 0.007 benign 0.57 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs762904124 10q23.33 10 94588302T> C null V A 329 329 missense 0.087 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1333262815 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.33 10 94588304G> A null V I 330 330 missense 0.394 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,TOPMed rs141236428 10q23.33 10 94588314C> T null P L 333 333 missense 0.84 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374850005 [NCI-TCGA]: Variant assessed as Somatic; impact. 10q23.33 10 94588313C> T null P S 333 333 missense 0.499 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1373719401 10q23.33 10 94588319T> A null S T 335 335 missense 0.003 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs748625291 10q23.33 10 94588323A> G null K R 336 336 missense 0.036 benign 0.43 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1396007773 10q23.33 10 94588341A> G null Y C 342 342 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1396007773 10q23.33 10 94588341A> C null Y S 342 342 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1339092391 10q23.33 10 94588344C> T null T I 343 343 missense 0.121 benign 0.18 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs76480828 10q23.33 10 94588343A> C null T P 343 343 missense 0.139 benign 0.27 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs755585923 10q23.33 10 94588351T> G null I M 345 345 missense 0.964 probably damaging 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs960508861 10q23.33 10 94588358C> T null R C 348 348 missense 0.888 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs777178711 10q23.33 10 94588359G> A null R H 348 348 missense 0.083 benign 0.05 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1308769185 10q23.33 10 94588364A> T null I F 350 350 missense 0.965 probably damaging 0.04 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs746327837 10q23.33 10 94588367G> A null A T 351 351 missense 0.001 benign 0.59 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs758948723 10q23.33 10 94588375G> A null M I 353 353 missense 0.015 benign 0.34 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs747372074 10q23.33 10 94588380G> A null G E 355 355 missense 0.001 benign 0.65 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs769197558 10q23.33 10 94588389A> G null E G 358 358 missense 0.003 benign 0.11 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1161929639 10q23.33 10 94590420C> T null T I 361 361 missense 0.0 benign 0.21 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs775124872 10q23.33 10 94590422A> G null I V 362 362 missense 0.0 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs753103929 10q23.33 10 94590434C> A null P T 366 366 missense 0.003 benign 0.06 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1314843352 10q23.33 10 94590443C> T null R * 369 369 stop gained 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs368865793 10q23.33 10 94590444G> A null R Q 369 369 missense 0.846 possibly damaging 0.03 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1259193653 10q23.33 10 94590453G> A null R Q 372 372 missense 0.989 probably damaging 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs761345851 10q23.33 10 94590455C> T null R * 373 373 stop gained 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,NCI-TCGA,gnomAD rs372532589 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 10q23.33 10 94590456G> A null R Q 373 373 missense 0.02 benign 0.03 deleterious 1 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ExAC,TOPMed,gnomAD rs76040812 10q23.33 10 94590458A> G null T A 374 374 5.99E-4 missense 0.0 benign 0.61 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1267119123 10q23.33 10 94590459C> G null T S 374 374 missense 0.0 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs145020994 10q23.33 10 94590461A> G null R G 375 375 missense 0.662 possibly damaging 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1410622211 [NCI-TCGA]: Variant assessed as Somatic; impact. 10q23.33 10 94590473A> G null N D 379 379 missense 0.001 benign 0.67 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1417658714 10q23.33 10 94590483A> C null K T 382 382 missense 0.0 benign 0.22 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1158595486 10q23.33 10 94590487A> G null I M 383 383 missense 0.003 benign 0.2 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs781744103 10q23.33 10 94590490T> A null D E 384 384 missense 0.007 benign 0.16 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ExAC,TOPMed,gnomAD rs189788350 10q23.33 10 94590492A> T null D V 385 385 2.0E-4 missense 0.014 benign 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1300735603 10q23.33 10 94590498C> G null P R 387 387 missense 0.007 benign 0.48 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs777916236 10q23.33 10 94590509G> A null E K 391 391 missense 0.471 possibly damaging 0.11 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs779723612 10q23.33 10 94590520C> G null I M 394 394 missense 0.018 benign 0.11 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1390621847 10q23.33 10 94590525A> G null Q R 396 396 missense 0.005 benign 0.61 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs749516104 10q23.33 10 94590531A> T null Q L 398 398 missense 0.012 benign 0.05 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs757287830 10q23.33 10 94590533C> G null P A 399 399 missense 0.0 benign 0.68 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs903350276 10q23.33 10 94590540T> C null V A 401 401 missense 0.0 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs903350276 10q23.33 10 94590540T> G null V G 401 401 missense 0.038 benign 0.51 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs778985770 10q23.33 10 94590544C> A null D E 402 402 missense 0.0 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs771870783 10q23.33 10 94590546G> A null R Q 403 403 missense 0.0 benign 0.66 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,gnomAD rs376323192 10q23.33 10 94590640C> G null A G 406 406 missense 0.012 benign 0.31 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs754012040 10q23.33 10 94590639G> A null A T 406 406 missense 0.0 benign 0.58 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1187757266 10q23.33 10 94590646T> A null V E 408 408 missense 0.001 benign 0.14 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1324771157 10q23.33 10 94590645G> A null V M 408 408 missense 0.014 benign 0.15 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1055105277 10q23.33 10 94590648G> A null E K 409 409 missense 0.001 benign 0.31 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1055105277 10q23.33 10 94590648G> C null E Q 409 409 missense 0.015 benign 0.49 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1464788442 10q23.33 10 94590655A> G null N S 411 411 missense 0.0 benign 0.56 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1176622381 10q23.33 10 94590659C> G null I M 412 412 missense 0.005 benign 0.33 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1408066952 10q23.33 10 94590663G> C null V L 414 414 missense 0.0 benign 0.36 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1188474786 10q23.33 10 94590672G> A null E K 417 417 missense 0.006 benign 0.43 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs779145900 10q23.33 10 94590682T> C null L P 420 420 missense 0.891 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1272015963 10q23.33 10 94590688T> C null L P 422 422 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs752068937 10q23.33 10 94590698A> G null I M 425 425 missense 0.19 benign 0.12 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs1206050015 10q23.33 10 94590701G> A null M I 426 426 missense 0.018 benign 0.19 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs779795210 10q23.33 10 94590704G> A null M I 427 427 missense 0.828 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs1284553236 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.33 10 94590711C> T null R C 430 430 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed rs151242775 10q23.33 10 94590712G> A null R H 430 430 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1199065710 10q23.33 10 94590715A> G null K R 431 431 missense 0.79 possibly damaging 0.25 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs776548060 10q23.33 10 94590750A> G null I V 443 443 missense 0.003 benign 0.09 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs748000028 10q23.33 10 94590755C> A null D E 444 444 missense 0.029 benign 0.15 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1158297413 10q23.33 10 94590753G> T null D Y 444 444 missense 0.26 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1239862266 10q23.33 10 94590756C> A null P T 445 445 missense 0.097 benign 0.09 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs773060157 10q23.33 10 94590759G> C null V L 446 446 missense 0.0 benign 0.2 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1311651120 10q23.33 10 94590771T> G null F V 450 450 missense 0.156 benign 0.02 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs140653245 10q23.33 10 94590774A> C null K Q 451 451 missense 0.02 benign 0.15 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1244178434 10q23.33 10 94592233A> G null D G 453 453 missense 0.283 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs749001760 10q23.33 10 94592232G> A null D N 453 453 missense 0.216 benign 0.09 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1336748121 10q23.33 10 94592235G> A null E K 454 454 missense 0.363 benign 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1185790199 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 10q23.33 10 94592238G> T null E * 455 455 stop gained 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs770300654 10q23.33 10 94592239A> C null E A 455 455 missense 0.006 benign 0.17 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1307765936 10q23.33 10 94592244G> A null V I 457 457 missense 0.061 benign 0.29 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs773891544 10q23.33 10 94592250A> G null N D 459 459 missense 0.003 benign 0.19 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs773891544 10q23.33 10 94592250A> C null N H 459 459 missense 0.357 benign 0.02 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1247946299 cosmic curated [Cosmic]: kidney pubmed:23797736,cosmic_study:494 10q23.33 10 94592262T> C null F L 463 463 missense 0.0 benign 0.93 tolerated 1 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs777180294 10q23.33 10 94592263T> A null F Y 463 463 missense 0.005 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs948418095 10q23.33 10 94592278G> T null R L 468 468 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs948418095 10q23.33 10 94592278G> A null R Q 468 468 missense 0.66 possibly damaging 0.11 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs868483039 10q23.33 10 94592282G> A null M I 469 469 missense 0.098 benign 0.08 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs752060007 10q23.33 10 94592281T> C null M T 469 469 missense 0.848 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs762107312 10q23.33 10 94592287C> T null P L 471 471 missense 0.864 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1227344266 10q23.33 10 94592299A> G null K R 475 475 missense 0.001 benign 0.26 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1359668506 10q23.33 10 94592302G> A null R K 476 476 missense 0.09 benign 0.13 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1250772685 10q23.33 10 94592305G> A null G D 477 477 missense 0.066 benign 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs762372546 10q23.33 10 94592398C> G null L V 481 481 missense 0.178 benign 0.03 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs967920934 10q23.33 10 94592416A> G null T A 487 487 missense 0.577 possibly damaging 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs770585431 10q23.33 10 94592420G> A null S N 488 488 missense 0.042 benign 0.38 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1253970383 10q23.33 10 94592438T> C null M T 494 494 missense 0.038 benign 0.54 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,gnomAD rs150471383 10q23.33 10 94592437A> G null M V 494 494 missense 0.001 benign 0.45 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1186924446 10q23.33 10 94592447G> T null C F 497 497 missense 0.142 benign 0.03 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1490427776 10q23.33 10 94592450A> G null H R 498 498 missense 0.003 benign 0.26 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1373911161 10q23.33 10 94592455A> G null R G 500 500 missense 0.885 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs771583849 10q23.33 10 94592466C> G null N K 503 503 missense 0.0 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs762334538 10q23.33 10 94592480A> G null D G 508 508 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1202764485 10q23.33 10 94592488A> G null M V 511 511 missense 0.076 benign 0.29 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1339321095 10q23.33 10 94592491T> C null S P 512 512 missense 0.03 benign 0.04 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1295695332 10q23.33 10 94592498C> A null S * 514 514 stop gained 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1395007498 10q23.33 10 94592497T> A null S T 514 514 missense 0.001 benign 0.51 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1327605600 10q23.33 10 94592500G> A null E K 515 515 missense 0.251 benign 0.04 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1277120883 10q23.33 10 94592504G> A null R K 516 516 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1324058472 10q23.33 10 94592506G> A null E K 517 517 missense 0.036 benign 0.12 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1423542197 10q23.33 10 94593501G> T null M I 520 520 missense 0.001 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1193070141 10q23.33 10 94593499A> T null M L 520 520 missense 0.006 benign 0.15 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs1057121090 10q23.33 10 94593506G> A null S N 522 522 missense 0.001 benign 0.3 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs770332266 10q23.33 10 94593510C> A null F L 523 523 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1160528031 10q23.33 10 94593511A> C null N H 524 524 missense 0.304 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,NCI-TCGA,TOPMed,gnomAD rs772237527 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 10q23.33 10 94593515C> T null T M 525 525 missense 0.013 benign 0.09 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs774778538 10q23.33 10 94593517G> A null D N 526 526 missense 0.044 benign 0.06 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1157514556 10q23.33 10 94593520C> G null P A 527 527 missense 0.192 benign 0.04 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ExAC,TOPMed,gnomAD rs188843001 10q23.33 10 94593532A> G null I V 531 531 3.99E-4 missense 0.007 benign 0.26 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1195417948 10q23.33 10 94593547A> G null T A 536 536 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1391729816 10q23.33 10 94593559G> A null G S 540 540 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs1467710470 10q23.33 10 94593581C> T null A V 547 547 missense 0.292 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1215869973 10q23.33 10 94593595A> T null I F 552 552 missense 0.935 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes rs578099960 10q23.33 10 94593607A> G null S G 556 556 2.0E-4 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl,dbSNP rs879253733 [ClinVar]: Immunodeficiency-centromeric instability-facial anomalies syndrome 4, [UniProt]: unknown pathological significance pubmed:26216346 pubmed:21596365,pubmed:26216346 10q23.33 10 94594702A> G null Q R 561 561 missense 0.998 probably damaging 0.0 deleterious 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4) MIM:616911 ClinVar:RCV000210912 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl,dbSNP rs879253733 [ClinVar]: Immunodeficiency-centromeric instability-facial anomalies syndrome 4, [UniProt]: unknown pathological significance pubmed:26216346 pubmed:21596365,pubmed:26216346 10q23.33 10 94594702A> G null Q R 561 561 missense 0.998 probably damaging 0.0 deleterious 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4) A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. MIM:616911 pubmed:26216346 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1179599077 10q23.33 10 94594705C> T null S L 562 562 missense 0.062 benign 0.25 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs112538484 10q23.33 10 94594711T> C null L P 564 564 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs746512654 10q23.33 10 94594722G> C null D H 568 568 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1002217829 10q23.33 10 94594725A> G null R G 569 569 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs778279847 10q23.33 10 94594729G> T null C F 570 570 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs749794869 10q23.33 10 94594749A> G null K E 577 577 missense 0.603 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1360820048 10q23.33 10 94594750A> T null K M 577 577 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs371792267 10q23.33 10 94594767C> T null R C 583 583 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1488654569 10q23.33 10 94594776A> G null T A 586 586 missense 0.747 possibly damaging 0.11 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs772420581 10q23.33 10 94594782A> G null N D 588 588 missense 0.615 possibly damaging 0.05 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs545861257 10q23.33 10 94594785A> G null T A 589 589 missense 0.803 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs116043383 10q23.33 10 94594788A> G null I V 590 590 0.002995 missense 0.012 benign 0.52 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1264370456 10q23.33 10 94594809A> G null R G 597 597 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs111693730 10q23.33 10 94594818G> T null A S 600 600 missense 0.021 benign 0.17 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs944816668 10q23.33 10 94594819C> T null A V 600 600 missense 0.026 benign 0.06 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs761674831 10q23.33 10 94594828A> T null K I 603 603 missense 0.879 possibly damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1236423511 10q23.33 10 94594834A> G null E G 605 605 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs750186205 10q23.33 10 94594852A> G null K R 611 611 missense 0.046 benign 0.13 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1477409931 10q23.33 10 94594854A> G null N D 612 612 missense 0.007 benign 0.43 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs776546865 10q23.33 10 94596860A> T null N I 612 612 missense 0.36 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs776546865 10q23.33 10 94596860A> G null N S 612 612 missense 0.007 benign 0.21 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1434721421 10q23.33 10 94596862C> G null H D 613 613 missense 0.098 benign 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1274842469 10q23.33 10 94596863A> T null H L 613 613 missense 0.003 benign 0.05 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1434721421 10q23.33 10 94596862C> T null H Y 613 613 missense 0.005 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs1564618450 10q23.33 10 94596871G> C null G R 616 616 missense 0.287 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1355032361 10q23.33 10 94596883G> C null G R 620 620 missense 0.481 possibly damaging 0.07 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1283265967 10q23.33 10 94596886T> A null L I 621 621 missense 0.013 benign 0.1 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs761990854 10q23.33 10 94596893T> C null L P 623 623 missense 0.0 benign 0.28 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d dbSNP rs879253734 [ClinVar]: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 pubmed:26216346 10q23.33 10 94596894_94596897de l null S null 624 624 frameshift 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4) MIM:616911 ClinVar:RCV000210919 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1210086850 10q23.33 10 94596899A> T null K M 625 625 missense 0.458 possibly damaging 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1210086850 10q23.33 10 94596899A> G null K R 625 625 missense 0.1 benign 0.06 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1291550308 10q23.33 10 94596909A> C null L F 628 628 missense 0.03 benign 0.15 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1170901572 10q23.33 10 94596910G> A null D N 629 629 missense 0.29 benign 0.15 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs769712136 10q23.33 10 94596914C> T null P L 630 630 missense 0.003 benign 0.94 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1489040047 10q23.33 10 94596913C> T null P S 630 630 missense 0.007 benign 0.5 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1197892098 10q23.33 10 94596916A> G null K E 631 631 missense 0.0 benign 0.71 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1172992364 10q23.33 10 94596927G> T null M I 634 634 missense 0.0 benign 0.42 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1422767438 10q23.33 10 94596926T> G null M R 634 634 missense 0.001 benign 0.28 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed,gnomAD rs1441475235 10q23.33 10 94596931T> G null L V 636 636 missense 0.945 probably damaging 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1176660534 10q23.33 10 94596939A> T null K N 638 638 missense 0.568 possibly damaging 0.09 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs762672616 10q23.33 10 94596941C> G null S C 639 639 missense 0.291 benign 0.03 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1419150414 10q23.33 10 94596946G> C null D H 641 641 missense 0.85 possibly damaging 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1208804637 10q23.33 10 94597059G> T null K N 652 652 missense 0.012 benign 0.18 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs921206889 10q23.33 10 94597071T> A null D E 656 656 missense 0.068 benign 0.07 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs781540868 10q23.33 10 94597087T> A null L M 662 662 missense 0.985 probably damaging 0.04 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d dbSNP rs879253737 [ClinVar]: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 pubmed:26216346 10q23.33 10 94597083_94597085GTT[2 ] null L null 663 663 inframe deletion 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4) MIM:616911 ClinVar:RCV000210910 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs144467267 10q23.33 10 94597109T> G null I S 669 669 missense 0.02 benign 0.03 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs777811792 10q23.33 10 94601536A> T null N Y 673 673 missense 0.183 benign 0.03 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1305061706 10q23.33 10 94601543C> T null S L 675 675 missense 0.192 benign 0.11 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs749409791 10q23.33 10 94601546G> A null G E 676 676 missense 0.003 benign 0.64 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d TOPMed rs1334909743 10q23.33 10 94601545G> A null G R 676 676 missense 0.017 benign 0.34 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147978849 10q23.33 10 94601551A> G null I V 678 678 0.001597 missense 0.0 benign 1.0 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs774405443 10q23.33 10 94601558A> C null E A 680 680 missense 0.005 benign 0.31 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs745593922 10q23.33 10 94601564T> A null M K 682 682 missense 0.0 benign 0.45 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs771903724 10q23.33 10 94601567G> A null G E 683 683 missense 0.079 benign 0.05 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1397683557 10q23.33 10 94601566G> A null G R 683 683 missense 0.026 benign 0.01 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,TOPMed,gnomAD rs771903724 10q23.33 10 94601567G> T null G V 683 683 missense 0.339 benign 0.0 deleterious 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1312512307 10q23.33 10 94601576A> G null K R 686 686 missense 0.011 benign 0.35 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ESP,ExAC,TOPMed,gnomAD rs141792389 10q23.33 10 94601581T> G null L V 688 688 missense 0.001 benign 0.81 tolerated 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ExAC,gnomAD rs200044983 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 10q23.33 10 94601587A> C null N H 690 690 2.0E-4 missense 0.642 possibly damaging 0.07 tolerated - low confidence 1 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1343009320 10q23.33 10 94601591C> A null S Y 691 691 missense 0.382 benign 0.01 deleterious - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ExAC,gnomAD rs554474857 10q23.33 10 94601593G> A null E K 692 692 2.0E-4 missense 0.009 benign 0.21 tolerated - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1191729423 10q23.33 10 94601598T> G null D E 693 693 missense 0.045 benign 0.23 tolerated - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150576597 10q23.33 10 94601597A> T null D V 693 693 2.0E-4 missense 0.915 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d ExAC,gnomAD rs766779610 10q23.33 10 94601599T> C null S P 694 694 missense 0.02 benign 0.08 tolerated - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d gnomAD rs1178925023 10q23.33 10 94601605C> A null P T 696 696 missense 0.0 benign 0.25 tolerated - low confidence 0 A0A087WSW7 HELLS Helicase, lymphoid-specific, isoform CRA_d Ensembl rs960273459 10q23.33 10 94601620T> C null * Q 701 701 stop lost 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs972348415 5q31.3 5 140806932G> A null V I 2 2 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,TOPMed,gnomAD rs564481809 5q31.3 5 140806941A> G null R G 5 5 5.99E-4 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1280740122 5q31.3 5 140806944G> A null V I 6 6 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782421232 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807209G> C null G R 7 7 missense 0.886 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782421232 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807209G> A null G S 7 7 missense 0.072 benign 0.07 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs147378308 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 5q31.3 5 140807215G> A null E K 9 9 missense 0.018 benign 0.44 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554123800 5q31.3 5 140807219C> A null S Y 10 10 missense 0.005 benign 0.4 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562206749 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807225G> A null R H 12 12 missense 0.007 benign 0.25 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782807464 5q31.3 5 140807234T> G null L R 15 15 missense 0.847 possibly damaging 0.2 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781879266 5q31.3 5 140807237T> A null L * 16 16 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781879266 5q31.3 5 140807237T> C null L S 16 16 missense 0.006 benign 0.12 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782505608 5q31.3 5 140807239C> T null L F 17 17 missense 0.007 benign 0.52 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782505608 5q31.3 5 140807239C> G null L V 17 17 missense 0.087 benign 0.3 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554123817 5q31.3 5 140807246T> G null L R 19 19 missense 0.622 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782639557 5q31.3 5 140807248C> T null L F 20 20 missense 0.073 benign 0.24 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782583105 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 5q31.3 5 140807251G> A null A T 21 21 missense 0.043 benign 0.51 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1367583489 5q31.3 5 140807254G> A null A T 22 22 missense 0.027 benign 0.07 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs138132729 5q31.3 5 140807259G> A null W * 23 23 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782426458 5q31.3 5 140807260G> A null E K 24 24 missense 0.007 benign 0.17 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782375351 5q31.3 5 140807273G> A null G D 28 28 missense 0.899 possibly damaging 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781978494 5q31.3 5 140807275C> T null Q * 29 29 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs782310722 5q31.3 5 140807279T> C null L P 30 30 missense 0.715 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782331571 5q31.3 5 140807285A> G null Y C 32 32 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782029376 5q31.3 5 140807288C> A null S * 33 33 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1470270680 5q31.3 5 140807291T> G null V G 34 34 missense 0.936 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782145999 5q31.3 5 140807293T> C null S P 35 35 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782145999 5q31.3 5 140807293T> A null S T 35 35 missense 0.039 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs528454810 5q31.3 5 140807296G> A null E K 36 36 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554123853 5q31.3 5 140807301G> T null E D 37 37 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs983753227 5q31.3 5 140807303C> A null A D 38 38 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs189135254 5q31.3 5 140807302G> A null A T 38 38 2.0E-4 missense 0.119 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782721399 5q31.3 5 140807306A> G null K R 39 39 missense 0.147 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554123871 5q31.3 5 140807309A> C null H P 40 40 missense 0.956 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554123873 5q31.3 5 140807310C> G null H Q 40 40 missense 0.428 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554123867 5q31.3 5 140807308C> T null H Y 40 40 missense 0.936 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781800843 5q31.3 5 140807311G> T null G C 41 41 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781800843 5q31.3 5 140807311G> C null G R 41 41 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782815519 5q31.3 5 140807315C> A null T N 42 42 missense 0.147 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782522800 5q31.3 5 140807326C> G null R G 46 46 missense 0.923 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl,NCI-TCGA rs199939862 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807327G> A null R H 46 46 missense 0.048 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1286013089 5q31.3 5 140807333C> G null A G 48 48 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782649273 5q31.3 5 140807332G> T null A S 48 48 missense 0.951 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782649273 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 5q31.3 5 140807332G> A null A T 48 48 missense 0.937 probably damaging 0.01 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554123887 5q31.3 5 140807336A> C null Q P 49 49 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554123890 5q31.3 5 140807338G> A null D N 50 50 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11167605 5q31.3 5 140807352G> T null E D 54 54 0.3319 missense 0.274 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1279167584 5q31.3 5 140807350G> A null E K 54 54 missense 0.106 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1279167584 5q31.3 5 140807350G> C null E Q 54 54 missense 0.118 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs918123295 5q31.3 5 140807354T> C null L P 55 55 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs949440782 5q31.3 5 140807357C> A null A E 56 56 missense 0.036 benign 0.16 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1303898166 5q31.3 5 140807356G> T null A S 56 56 missense 0.049 benign 0.14 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1554123903 5q31.3 5 140807363T> C null L P 58 58 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs145024223 5q31.3 5 140807362C> G null L V 58 58 missense 0.714 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs782357546 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807369C> T null P L 60 60 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782241518 5q31.3 5 140807368C> T null P S 60 60 missense 1.0 probably damaging 0.1 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554123909 5q31.3 5 140807371C> T null R C 61 61 missense 0.977 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782704946 5q31.3 5 140807377T> C null F L 63 63 missense 0.188 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148298330 5q31.3 5 140807381G> T null R L 64 64 0.001797 missense 0.648 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148298330 5q31.3 5 140807381G> A null R Q 64 64 0.001797 missense 0.024 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782782841 5q31.3 5 140807383G> A null V M 65 65 missense 0.088 benign 0.17 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782494406 5q31.3 5 140807387C> A null A E 66 66 missense 0.456 possibly damaging 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782494406 5q31.3 5 140807387C> G null A G 66 66 missense 0.124 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781857589 5q31.3 5 140807386G> A null A T 66 66 missense 0.02 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781811191 5q31.3 5 140807389T> G null S A 67 67 missense 0.026 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781811191 5q31.3 5 140807389T> C null S P 67 67 missense 0.062 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782668937 5q31.3 5 140807390C> A null S Y 67 67 missense 0.826 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs3822355 5q31.3 5 140807394G> T null K N 68 68 0.3478 missense 0.94 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs3822355 5q31.3 5 140807394G> C null K N 68 68 0.3478 missense 0.94 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs3822354 5q31.3 5 140807395G> T null G C 69 69 0.3478 missense 0.873 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782005139 5q31.3 5 140807396G> A null G D 69 69 missense 0.011 benign 0.27 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs3822354 5q31.3 5 140807395G> C null G R 69 69 0.3478 missense 0.043 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562208248 5q31.3 5 140807394_140807405delinsAAGACACCGGG A null G RHRD 69 72 missense 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs3822354 5q31.3 5 140807395G> A null G S 69 69 0.3478 missense 0.031 benign 0.09 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed rs3822352 5q31.3 5 140807399G> A null R H 70 70 missense 0.005 benign 0.27 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782120489 5q31.3 5 140807398C> A null R S 70 70 missense 0.021 benign 0.05 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs3822351 cosmic curated [Cosmic]: lung cosmic_study:418 5q31.3 5 140807401G> C null G R 71 71 missense 0.062 benign 0.24 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554123969 5q31.3 5 140807402G> T null G V 71 71 missense 0.19 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs17844273 5q31.3 5 140807405G> A null G D 72 72 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs201303975 5q31.3 5 140807404G> A null G S 72 72 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554123978 5q31.3 5 140807407C> T null L F 73 73 missense 0.967 probably damaging 0.05 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781879496 5q31.3 5 140807410C> A null L M 74 74 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124003 5q31.3 5 140807414A> T null E V 75 75 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782121497 5q31.3 5 140807417T> C null V A 76 76 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1226782734 5q31.3 5 140807419A> C null N H 77 77 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782749843 5q31.3 5 140807422C> A null L M 78 78 missense 0.2 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124008 5q31.3 5 140807431G> T null G C 81 81 missense 0.985 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124011 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 5q31.3 5 140807432G> A null G D 81 81 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124011 5q31.3 5 140807432G> T null G V 81 81 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1325948776 5q31.3 5 140807440T> C null F L 84 84 missense 0.998 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781837563 5q31.3 5 140807443G> A null V M 85 85 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124019 5q31.3 5 140807450C> A null S Y 87 87 missense 0.956 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1223020779 5q31.3 5 140807453G> T null R L 88 88 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562209141 5q31.3 5 140807452C> T null R W 88 88 missense 0.996 probably damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124027 5q31.3 5 140807459A> G null D G 90 90 missense 0.965 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782581382 5q31.3 5 140807465A> G null E G 92 92 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs546275072 5q31.3 5 140807469G> C null E D 93 93 2.0E-4 missense 0.166 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124044 5q31.3 5 140807475C> A null C * 95 95 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124037 5q31.3 5 140807473T> A null C S 95 95 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124040 5q31.3 5 140807474G> A null C Y 95 95 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs3822348 5q31.3 5 140807476C> G null R G 96 96 0.001398 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs111900306 5q31.3 5 140807477G> C null R P 96 96 missense 0.247 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs111900306 5q31.3 5 140807477G> A null R Q 96 96 missense 0.158 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs528503686 5q31.3 5 140807480G> A null R Q 97 97 2.0E-4 missense 0.059 benign 0.16 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs371525794 5q31.3 5 140807483G> A null S N 98 98 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed rs782221460 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 5q31.3 5 140807484C> G null S R 98 98 missense 0.067 benign 0.06 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs371525794 5q31.3 5 140807483G> C null S T 98 98 missense 0.005 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs782333816 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5q31.3 5 140807486C> T null A V 99 99 missense 0.012 benign 0.23 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1053803675 5q31.3 5 140807488G> A null E K 100 100 missense 0.663 possibly damaging 0.08 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs370847724 5q31.3 5 140807494A> G null S G 102 102 missense 0.02 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124059 5q31.3 5 140807509G> T null V L 107 107 missense 0.653 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782377477 5q31.3 5 140807516T> C null V A 109 109 missense 0.925 probably damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124060 5q31.3 5 140807515G> A null V I 109 109 missense 0.54 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782091040 5q31.3 5 140807520C> A null D E 110 110 missense 0.024 benign 0.19 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124063 5q31.3 5 140807522G> A null R K 111 111 missense 0.01 benign 0.43 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1187036014 5q31.3 5 140807523G> T null R S 111 111 missense 0.517 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367896801 5q31.3 5 140807525C> T null P L 112 112 2.0E-4 missense 0.538 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367896801 5q31.3 5 140807525C> A null P Q 112 112 2.0E-4 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782811341 5q31.3 5 140807534T> C null V A 115 115 missense 0.884 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1462796300 5q31.3 5 140807539C> T null H Y 117 117 missense 0.423 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782531959 5q31.3 5 140807546A> G null D G 119 119 missense 0.138 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782626216 5q31.3 5 140807549T> A null V E 120 120 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124073 5q31.3 5 140807548G> A null V M 120 120 missense 0.897 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1310483262 5q31.3 5 140807552A> G null E G 121 121 missense 0.88 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1209745292 5q31.3 5 140807551G> C null E Q 121 121 missense 0.864 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124077 5q31.3 5 140807555T> C null V A 122 122 missense 0.977 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs561978404 5q31.3 5 140807558G> A null R K 123 123 5.99E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs150847383 5q31.3 5 140807559G> C null R S 123 123 missense 0.127 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124081 5q31.3 5 140807560G> A null D N 124 124 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs200997832 5q31.3 5 140807563A> C null I L 125 125 missense 0.197 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782590169 5q31.3 5 140807568C> G null N K 126 126 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562210104 5q31.3 5 140807570A> G null D G 127 127 missense 0.973 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs952470653 5q31.3 5 140807569G> C null D H 127 127 missense 0.656 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782430238 5q31.3 5 140807573A> C null N T 128 128 missense 0.705 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1355762346 5q31.3 5 140807579C> T null P L 130 130 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1355762346 5q31.3 5 140807579C> A null P Q 130 130 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1355762346 5q31.3 5 140807579C> G null P R 130 130 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs138189439 5q31.3 5 140807581G> T null V L 131 131 missense 0.011 benign 0.05 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs138189439 5q31.3 5 140807581G> C null V L 131 131 missense 0.011 benign 0.05 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76522243 5q31.3 5 140807584T> A null F I 132 132 3.99E-4 missense 0.827 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782149681 5q31.3 5 140807586C> G null F L 132 132 missense 0.675 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76522243 5q31.3 5 140807584T> G null F V 132 132 3.99E-4 missense 0.299 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146575746 5q31.3 5 140807588C> T null P L 133 133 0.01298 missense 0.105 benign 0.11 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146575746 5q31.3 5 140807588C> G null P R 133 133 0.01298 missense 0.771 possibly damaging 0.29 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1482430512 5q31.3 5 140807591C> T null A V 134 134 missense 0.018 benign 0.5 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,gnomAD rs141030691 5q31.3 5 140807594C> T null T I 135 135 missense 0.238 benign 0.05 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,gnomAD rs141030691 5q31.3 5 140807594C> G null T R 135 135 missense 0.927 probably damaging 0.56 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124116 5q31.3 5 140807593A> T null T S 135 135 missense 0.249 benign 0.45 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1342022968 5q31.3 5 140807596C> T null Q * 136 136 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144914662 5q31.3 5 140807597A> T null Q L 136 136 3.99E-4 missense 0.059 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144914662 5q31.3 5 140807597A> C null Q P 136 136 3.99E-4 missense 0.093 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144914662 5q31.3 5 140807597A> G null Q R 136 136 3.99E-4 missense 0.059 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1375080438 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 5q31.3 5 140807601G> T null K N 137 137 missense 0.894 possibly damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124134 5q31.3 5 140807602A> G null N D 138 138 missense 0.272 benign 0.21 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124143 5q31.3 5 140807606T> A null L Q 139 139 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782498556 5q31.3 5 140807608T> G null S A 140 140 missense 0.015 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs554905188 5q31.3 5 140807609C> G null S C 140 140 5.99E-4 missense 0.579 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs554905188 5q31.3 5 140807609C> T null S F 140 140 5.99E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782498556 5q31.3 5 140807608T> C null S P 140 140 missense 0.284 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782498556 5q31.3 5 140807608T> A null S T 140 140 missense 0.039 benign 0.05 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782442126 5q31.3 5 140807611A> T null I F 141 141 missense 0.692 possibly damaging 0.09 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782576297 5q31.3 5 140807612T> G null I S 141 141 missense 0.743 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782442126 5q31.3 5 140807611A> G null I V 141 141 missense 0.031 benign 0.09 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs781997820 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 5q31.3 5 140807615C> A null A E 142 142 missense 0.872 possibly damaging 0.09 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782288256 5q31.3 5 140807614G> T null A S 142 142 missense 0.384 benign 0.82 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782288256 5q31.3 5 140807614G> A null A T 142 142 missense 0.263 benign 0.18 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781997820 5q31.3 5 140807615C> T null A V 142 142 missense 0.703 possibly damaging 0.17 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1177804428 5q31.3 5 140807618A> C null E A 143 143 missense 0.953 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1177804428 5q31.3 5 140807618A> G null E G 143 143 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781954870 5q31.3 5 140807621C> A null S Y 144 144 missense 0.238 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1042588198 5q31.3 5 140807623A> G null R G 145 145 missense 0.831 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs148605499 5q31.3 5 140807632G> C null D H 148 148 missense 0.452 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1360812183 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807639G> T null R L 150 150 missense 0.785 possibly damaging 0.05 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124171 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807638C> T null R W 150 150 missense 0.099 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124177 5q31.3 5 140807651A> G null E G 154 154 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1265160287 5q31.3 5 140807650G> C null E Q 154 154 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1243114134 5q31.3 5 140807654G> A null G D 155 155 missense 0.638 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124181 5q31.3 5 140807657C> A null A D 156 156 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782156904 5q31.3 5 140807656G> A null A T 156 156 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1307238729 5q31.3 5 140807660C> T null S L 157 157 missense 0.863 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782724169 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 5q31.3 5 140807662G> A null D N 158 158 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782656312 5q31.3 5 140807669A> C null D A 160 160 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,gnomAD rs557317357 5q31.3 5 140807670T> A null D E 160 160 2.0E-4 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782562100 5q31.3 5 140807668G> A null D N 160 160 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,TOPMed,gnomAD rs151175650 5q31.3 5 140807672T> C null I T 161 161 missense 0.018 benign 0.09 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782061737 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807674G> A null G R 162 162 missense 0.542 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782061737 5q31.3 5 140807674G> C null G R 162 162 missense 0.542 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782061737 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5q31.3 5 140807674G> T null G W 162 162 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782620777 5q31.3 5 140807677G> A null E K 163 163 missense 0.096 benign 0.26 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes rs575783501 5q31.3 5 140807680A> G null N D 164 164 2.0E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782331104 5q31.3 5 140807682C> A null N K 164 164 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782583674 5q31.3 5 140807684C> A null A D 165 165 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782583674 5q31.3 5 140807684C> G null A G 165 165 missense 0.894 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1364213662 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 5q31.3 5 140807683G> A null A T 165 165 missense 0.937 probably damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782423945 5q31.3 5 140807687T> C null L P 166 166 missense 0.908 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782423945 5q31.3 5 140807687T> A null L Q 166 166 missense 0.183 benign 0.08 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782423945 5q31.3 5 140807687T> G null L R 166 166 missense 0.114 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782338202 5q31.3 5 140807689C> T null L F 167 167 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781931129 5q31.3 5 140807692A> G null T A 168 168 missense 0.72 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1490645074 5q31.3 5 140807693C> T null T I 168 168 missense 0.16 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1267301172 5q31.3 5 140807699G> A null R K 170 170 missense 0.393 benign 0.6 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1554124214 5q31.3 5 140807706C> A null S R 172 172 missense 0.162 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562211808 5q31.3 5 140807707C> T null P S 173 173 missense 0.031 benign 0.52 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782047750 5q31.3 5 140807710A> G null N D 174 174 missense 0.475 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782799049 5q31.3 5 140807713G> A null E K 175 175 missense 0.783 possibly damaging 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781885240 5q31.3 5 140807717A> G null Y C 176 176 missense 0.979 probably damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782125773 5q31.3 5 140807720T> C null F S 177 177 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs369564705 5q31.3 5 140807723C> G null S C 178 178 missense 0.93 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369564705 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 5q31.3 5 140807723C> T null S F 178 178 missense 0.114 benign 0.23 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs533049370 5q31.3 5 140807726T> C null L P 179 179 missense 0.519 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124228 5q31.3 5 140807729A> C null E A 180 180 missense 0.46 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781794809 5q31.3 5 140807735C> T null P L 182 182 missense 0.927 probably damaging 0.07 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3822346 5q31.3 5 140807737C> T null P S 183 183 0.4087 missense 0.001 benign 0.45 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124240 5q31.3 5 140807742T> A null D E 184 184 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1383891964 5q31.3 5 140807743G> A null D N 185 185 missense 0.007 benign 0.36 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782266398 5q31.3 5 140807746G> A null E K 186 186 missense 0.005 benign 0.23 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782346248 5q31.3 5 140807749C> G null L V 187 187 missense 0.072 benign 0.05 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1319661297 5q31.3 5 140807757A> T null K N 189 189 missense 0.162 benign 0.13 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs529738408 5q31.3 5 140807767C> A null L I 193 193 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782033818 5q31.3 5 140807771T> C null I T 194 194 missense 0.096 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1178619077 5q31.3 5 140807776C> T null R W 196 196 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562212438 5q31.3 5 140807779A> G null K E 197 197 missense 0.831 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782393420 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807783C> T null S F 198 198 missense 0.076 benign 0.7 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782393420 5q31.3 5 140807783C> A null S Y 198 198 missense 0.005 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1554124270 5q31.3 5 140807786T> C null L S 199 199 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs369163231 5q31.3 5 140807788G> C null D H 200 200 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124276 5q31.3 5 140807792G> A null R K 201 201 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782723382 5q31.3 5 140807795A> G null E G 202 202 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124277 5q31.3 5 140807794G> A null E K 202 202 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs573341314 5q31.3 5 140807798A> C null E A 203 203 5.99E-4 missense 0.073 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782056776 5q31.3 5 140807801C> A null A D 204 204 missense 0.255 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782056776 5q31.3 5 140807801C> G null A G 204 204 missense 0.138 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782056776 5q31.3 5 140807801C> T null A V 204 204 missense 0.012 benign 0.12 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370687848 5q31.3 5 140807804C> A null P Q 205 205 2.0E-4 missense 0.911 probably damaging 0.18 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124282 5q31.3 5 140807803C> T null P S 205 205 missense 0.17 benign 0.22 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1262793743 5q31.3 5 140807807A> C null E A 206 206 missense 0.782 possibly damaging 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs992908265 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807808G> T null E D 206 206 missense 0.836 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124286 5q31.3 5 140807806G> A null E K 206 206 missense 0.238 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed rs781897114 5q31.3 5 140807809A> G null I V 207 207 missense 0.012 benign 0.2 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs372699466 5q31.3 5 140807817A> T null L F 209 209 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs372699466 5q31.3 5 140807817A> C null L F 209 209 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs781816070 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807822T> C null L P 211 211 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes rs562041682 5q31.3 5 140807825C> T null T I 212 212 2.0E-4 missense 0.059 benign 0.13 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782460121 5q31.3 5 140807827G> A null A T 213 213 missense 0.894 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124299 5q31.3 5 140807830A> T null T S 214 214 missense 0.077 benign 0.11 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1272639969 5q31.3 5 140807834A> G null D G 215 215 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782293476 5q31.3 5 140807837G> T null G V 216 216 missense 0.971 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782535026 5q31.3 5 140807844A> T null K N 218 218 missense 0.967 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782647653 5q31.3 5 140807845C> T null P S 219 219 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782354184 5q31.3 5 140807848G> T null E * 220 220 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs924127496 5q31.3 5 140807854A> C null T P 222 222 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782193088 5q31.3 5 140807857G> T null G C 223 223 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs529221273 5q31.3 5 140807863G> T null V F 225 225 2.0E-4 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs529221273 5q31.3 5 140807863G> A null V I 225 225 2.0E-4 missense 0.12 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782155979 5q31.3 5 140807866C> A null Q K 226 226 missense 0.69 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782786124 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140807867A> C null Q P 226 226 missense 0.937 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782786124 5q31.3 5 140807867A> G null Q R 226 226 missense 0.786 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781990148 5q31.3 5 140807876T> A null I N 229 229 missense 0.947 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781990148 5q31.3 5 140807876T> C null I T 229 229 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782074587 5q31.3 5 140807884C> G null L V 232 232 missense 0.652 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782700290 5q31.3 5 140807889T> A null D E 233 233 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs141163311 5q31.3 5 140807895T> A null N K 235 235 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781785947 5q31.3 5 140807894A> G null N S 235 235 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1391356364 5q31.3 5 140807899A> C null N H 237 237 missense 0.422 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782791250 5q31.3 5 140807903C> T null A V 238 238 missense 0.351 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs901067818 5q31.3 5 140807909C> G null A G 240 240 missense 0.197 benign 0.35 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781869651 5q31.3 5 140807908G> C null A P 240 240 missense 0.522 possibly damaging 0.25 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781869651 5q31.3 5 140807908G> A null A T 240 240 missense 0.007 benign 0.56 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs544486989 5q31.3 5 140807913T> G null F L 241 241 2.0E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124343 5q31.3 5 140807918G> T null R I 243 243 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1245397116 5q31.3 5 140807924T> G null I S 245 245 missense 0.003 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782616860 5q31.3 5 140807923A> G null I V 245 245 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs929919942 5q31.3 5 140807926T> G null Y D 246 246 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782209478 5q31.3 5 140807933T> C null V A 248 248 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782467097 5q31.3 5 140807937A> T null R S 249 249 missense 0.096 benign 0.11 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1046867611 5q31.3 5 140807948A> T null N I 253 253 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1046867611 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 5q31.3 5 140807948A> G null N S 253 253 missense 0.999 probably damaging 0.03 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201004244 5q31.3 5 140807950G> C null V L 254 254 0.001597 missense 0.382 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124359 5q31.3 5 140807956A> C null N H 256 256 missense 0.047 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124363 5q31.3 5 140807957A> G null N S 256 256 missense 0.034 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782007660 5q31.3 5 140807960G> A null G E 257 257 missense 0.99 probably damaging 0.1 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs782778842 5q31.3 5 140807966T> C null L S 259 259 missense 0.077 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782254119 5q31.3 5 140807968G> A null V I 260 260 missense 0.309 benign 0.08 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs533157814 5q31.3 5 140807974A> G null K E 262 262 5.99E-4 missense 0.46 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124372 5q31.3 5 140807978T> C null L P 263 263 missense 0.018 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1226145828 5q31.3 5 140807982C> A null N K 264 264 missense 0.94 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782039700 5q31.3 5 140807983G> T null A S 265 265 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs782039700 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,pubmed:23856246,cosmic_study:375,cosmic_study:452,cosmic_study:504 5q31.3 5 140807983G> A null A T 265 265 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562213724 5q31.3 5 140807997C> A null D E 269 269 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782760377 5q31.3 5 140807998G> T null E * 270 270 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124378 5q31.3 5 140807999A> G null E G 270 270 missense 0.947 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124378 5q31.3 5 140807999A> T null E V 270 270 missense 0.961 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1361329408 5q31.3 5 140808001G> A null G R 271 271 missense 0.992 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782472547 5q31.3 5 140808008A> G null N S 273 273 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1554124383 5q31.3 5 140808013G> A null D N 275 275 missense 0.019 benign 0.1 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1034066064 5q31.3 5 140808023A> G null Y C 278 278 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs894226216 5q31.3 5 140808029T> C null F S 280 280 missense 0.96 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed rs782714684 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 5q31.3 5 140808032C> G null S * 281 281 missense 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed rs782714684 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 5q31.3 5 140808032C> T null S L 281 281 missense 0.685 possibly damaging 0.04 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562213945 5q31.3 5 140808034A> G null N D 282 282 missense 0.096 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1340097286 5q31.3 5 140808037G> C null D H 283 283 missense 0.985 probably damaging 0.57 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs781791401 NCI-TCGA Cosmic [Cosmic]: prostate, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:435 5q31.3 5 140808044C> T null S L 285 285 missense 0.012 benign 0.54 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1393234929 5q31.3 5 140808056A> T null K I 289 289 missense 0.114 benign 0.07 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124409 5q31.3 5 140808066T> A null F L 292 292 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124407 5q31.3 5 140808064T> C null F L 292 292 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124407 5q31.3 5 140808064T> G null F V 292 292 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs377697994 5q31.3 5 140808073G> A null D N 295 295 missense 0.207 benign 0.4 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562214124 5q31.3 5 140808076C> T null P S 296 296 missense 0.049 benign 0.55 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782221936 5q31.3 5 140808081T> G null I M 297 297 missense 0.023 benign 0.13 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs59233330 5q31.3 5 140808079A> G null I V 297 297 0.03075 missense 0.0 benign 0.59 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782294172 5q31.3 5 140808092T> G null I S 301 301 missense 0.96 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782373131 5q31.3 5 140808095T> A null I N 302 302 missense 0.124 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782004795 5q31.3 5 140808097G> A null V I 303 303 missense 0.106 benign 0.38 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148933348 5q31.3 5 140808102G> C null K N 304 304 0.001597 missense 0.013 benign 0.52 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145409201 5q31.3 5 140808107A> G null Y C 306 306 0.007588 missense 0.007 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781921257 5q31.3 5 140808110T> C null I T 307 307 missense 0.786 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782066312 5q31.3 5 140808113A> C null D A 308 308 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782793067 5q31.3 5 140808115T> C null F L 309 309 missense 0.831 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124422 5q31.3 5 140808125G> A null S N 312 312 missense 0.021 benign 0.76 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124423 5q31.3 5 140808128A> T null K I 313 313 missense 0.847 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1202926318 5q31.3 5 140808135T> A null Y * 315 315 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs17844278 5q31.3 5 140808134A> G null Y C 315 315 missense 0.967 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782108978 5q31.3 5 140808133T> C null Y H 315 315 missense 0.104 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs17844278 5q31.3 5 140808134A> C null Y S 315 315 missense 0.885 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs868911123 5q31.3 5 140808136G> A null E K 316 316 missense 0.005 benign 0.35 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782764384 5q31.3 5 140808139A> G null I V 317 317 missense 0.073 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782479156 5q31.3 5 140808148G> A null E K 320 320 missense 0.89 possibly damaging 0.23 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782479156 5q31.3 5 140808148G> C null E Q 320 320 missense 0.426 benign 0.19 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1292142612 5q31.3 5 140808154A> G null I V 322 322 missense 0.007 benign 0.66 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124432 5q31.3 5 140808161A> C null K T 324 324 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1282618678 5q31.3 5 140808164G> C null G A 325 325 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1355843543 5q31.3 5 140808163G> A null G R 325 325 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124439 5q31.3 5 140808166C> T null Q * 326 326 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs868976619 5q31.3 5 140808175C> T null L F 329 329 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782558494 5q31.3 5 140808176T> C null L P 329 329 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782647325 5q31.3 5 140808178T> C null S P 330 330 missense 0.013 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782610577 5q31.3 5 140808191G> A null R K 334 334 missense 0.0 benign 0.53 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782183352 5q31.3 5 140808196A> G null I V 336 336 missense 0.003 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124450 5q31.3 5 140808203A> C null E A 338 338 missense 0.69 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1307561739 5q31.3 5 140808215A> G null N S 342 342 missense 0.001 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782019485 5q31.3 5 140808219C> G null N K 343 343 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782019485 5q31.3 5 140808219C> A null N K 343 343 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,NCI-TCGA,TOPMed rs566917401 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 5q31.3 5 140808221A> G null D G 344 344 2.0E-4 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs868947123 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23856246,cosmic_study:504 5q31.3 5 140808220G> A null D N 344 344 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124464 5q31.3 5 140808224A> G null N S 345 345 missense 0.874 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781997351 5q31.3 5 140808226G> A null V I 346 346 missense 0.149 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124466 5q31.3 5 140808232G> C null D H 348 348 missense 0.402 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124466 5q31.3 5 140808232G> T null D Y 348 348 missense 0.382 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782073984 5q31.3 5 140808236T> C null L S 349 349 missense 0.867 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1554124470 5q31.3 5 140808251T> C null L S 354 354 missense 0.71 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1412132205 5q31.3 5 140808260C> T null P L 357 357 missense 0.422 benign 0.05 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782815888 5q31.3 5 140808263T> A null I N 358 358 missense 0.807 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs557642190 5q31.3 5 140808262A> G null I V 358 358 2.0E-4 missense 0.011 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs569401882 5q31.3 5 140808268G> T null E * 360 360 2.0E-4 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781840422 5q31.3 5 140808274G> T null A S 362 362 missense 0.201 benign 0.2 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782433046 5q31.3 5 140808275C> T null A V 362 362 missense 0.783 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138396244 5q31.3 5 140808284G> C null G A 365 365 0.001597 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138396244 5q31.3 5 140808284G> A null G D 365 365 0.001597 missense 0.638 possibly damaging 0.05 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,TOPMed,gnomAD rs367717209 5q31.3 5 140808283G> C null G R 365 365 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,TOPMed,gnomAD rs367717209 5q31.3 5 140808283G> A null G S 365 365 missense 0.981 probably damaging 0.15 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs942791264 5q31.3 5 140808294C> G null I M 368 368 missense 0.963 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1286163937 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 5q31.3 5 140808295G> T null A S 369 369 missense 0.748 possibly damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782259868 5q31.3 5 140808301A> G null I V 371 371 missense 0.045 benign 0.07 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782336917 5q31.3 5 140808313G> A null D N 375 375 missense 0.534 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1226675581 5q31.3 5 140808322A> G null M V 378 378 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1347522156 5q31.3 5 140808325G> T null G C 379 379 missense 0.951 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781960345 5q31.3 5 140808329T> A null V D 380 380 missense 0.007 benign 0.14 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782169287 5q31.3 5 140808331A> C null N H 381 381 missense 0.162 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124486 5q31.3 5 140808335G> C null G A 382 382 missense 0.422 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782123040 5q31.3 5 140808340G> T null V F 384 384 missense 0.899 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124492 cosmic curated [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: lung pubmed:23033341,pubmed:23856246,pubmed:24121792,cosmic_study:456,cosmic_study:504,cosmic_study:557,cosmic_study:581 5q31.3 5 140808356C> T null T M 389 389 missense 0.134 benign 0.1 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124493 5q31.3 5 140808359C> T null S F 390 390 missense 0.382 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562215791 5q31.3 5 140808363C> A null H Q 391 391 missense 0.015 benign 0.14 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs76650315 5q31.3 5 140808364G> T null V F 392 392 2.0E-4 missense 0.769 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs76650315 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808364G> A null V I 392 392 2.0E-4 missense 0.027 benign 0.11 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs76650315 5q31.3 5 140808364G> C null V L 392 392 2.0E-4 missense 0.272 benign 0.16 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781953754 5q31.3 5 140808372C> G null F L 394 394 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1156251617 5q31.3 5 140808370T> C null F L 394 394 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1481118058 5q31.3 5 140808373A> G null K E 395 395 missense 0.831 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782097459 5q31.3 5 140808374A> G null K R 395 395 missense 0.137 benign 0.11 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1425307568 5q31.3 5 140808379G> T null V L 397 397 missense 0.067 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782708840 5q31.3 5 140808382T> C null S P 398 398 missense 0.98 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs534285783 5q31.3 5 140808385A> G null T A 399 399 2.0E-4 missense 0.779 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124507 5q31.3 5 140808386C> T null T I 399 399 missense 0.959 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs534285783 5q31.3 5 140808385A> C null T P 399 399 2.0E-4 missense 0.959 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124511 5q31.3 5 140808389T> A null F Y 400 400 missense 0.071 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782801164 5q31.3 5 140808393G> T null K N 401 401 missense 0.159 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781853303 5q31.3 5 140808398A> G null Y C 403 403 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781853303 5q31.3 5 140808398A> C null Y S 403 403 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs555840522 5q31.3 5 140808400T> C null Y H 404 404 2.0E-4 missense 0.523 possibly damaging 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143891810 5q31.3 5 140808404C> T null S L 405 405 3.99E-4 missense 0.249 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1190545218 5q31.3 5 140808403T> C null S P 405 405 missense 0.972 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124521 5q31.3 5 140808409G> A null V M 407 407 missense 0.577 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124523 5q31.3 5 140808413T> A null L Q 408 408 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1209126629 5q31.3 5 140808416A> G null D G 409 409 missense 0.207 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782218183 5q31.3 5 140808419G> A null S N 410 410 missense 0.027 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147309851 5q31.3 5 140808422C> A null A D 411 411 0.001398 missense 0.662 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124528 5q31.3 5 140808421G> T null A S 411 411 missense 0.068 benign 0.18 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147309851 5q31.3 5 140808422C> T null A V 411 411 0.001398 missense 0.041 benign 0.1 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782400993 5q31.3 5 140808430C> T null R C 414 414 missense 0.969 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782400993 5q31.3 5 140808430C> G null R G 414 414 missense 0.872 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124539 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5q31.3 5 140808431G> A null R H 414 414 missense 0.112 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs781860086 5q31.3 5 140808437G> T null S I 416 416 missense 0.361 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7702779 5q31.3 5 140808438C> A null S R 416 416 0.05691 missense 0.022 benign 0.17 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs372913069 cosmic curated [Cosmic]: pancreas pubmed:22158988,cosmic_study:393 5q31.3 5 140808439G> A null V M 417 417 missense 0.134 benign 0.12 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782693036 5q31.3 5 140808446C> A null A D 419 419 missense 0.005 benign 0.68 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1219099901 5q31.3 5 140808445G> T null A S 419 419 missense 0.007 benign 0.47 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782693036 5q31.3 5 140808446C> T null A V 419 419 missense 0.005 benign 0.33 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124549 5q31.3 5 140808448T> C null Y H 420 420 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781801609 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue cosmic_study:440 5q31.3 5 140808451G> A null E K 421 421 missense 0.005 benign 0.37 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124562 5q31.3 5 140808457G> A null V M 423 423 missense 0.707 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368557415 5q31.3 5 140808464C> T null T I 425 425 0.001997 missense 0.106 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs559892183 NCI-TCGA Cosmic [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:24145436,cosmic_study:418,cosmic_study:549 5q31.3 5 140808469C> T null R * 427 427 2.0E-4 missense 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124581 5q31.3 5 140808476G> A null G E 429 429 missense 0.238 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1359220357 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808475G> A null G R 429 429 missense 0.249 benign 0.09 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1359220357 5q31.3 5 140808475G> C null G R 429 429 missense 0.249 benign 0.09 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782290463 5q31.3 5 140808479G> A null G D 430 430 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782669465 5q31.3 5 140808478G> A null G S 430 430 missense 0.819 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782290463 5q31.3 5 140808479G> T null G V 430 430 missense 0.993 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs781996796 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver cosmic_study:323,cosmic_study:377 5q31.3 5 140808482C> T null S L 431 431 missense 0.049 benign 0.06 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782357684 5q31.3 5 140808485C> G null P R 432 432 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782078802 5q31.3 5 140808484C> T null P S 432 432 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,NCI-TCGA,gnomAD rs372115820 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 5q31.3 5 140808488C> T null S L 433 433 missense 0.796 possibly damaging 0.05 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs375134546 5q31.3 5 140808495G> C null W C 435 435 missense 0.754 possibly damaging 0.05 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781860911 5q31.3 5 140808493T> G null W G 435 435 missense 0.138 benign 0.14 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs527429618 5q31.3 5 140808500C> T null T M 437 437 2.0E-4 missense 0.306 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782440770 5q31.3 5 140808508G> A null V I 440 440 missense 0.603 possibly damaging 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs548657178 5q31.3 5 140808515T> G null V G 442 442 2.0E-4 missense 0.98 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782586512 5q31.3 5 140808514G> A null V M 442 442 missense 0.668 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124610 5q31.3 5 140808520G> T null V L 444 444 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124614 5q31.3 5 140808523G> A null A T 445 445 missense 0.856 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124616 5q31.3 5 140808527A> G null D G 446 446 missense 0.278 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124622 5q31.3 5 140808535G> T null D Y 449 449 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782256529 5q31.3 5 140808541G> A null A T 451 451 missense 0.437 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed rs782621345 5q31.3 5 140808545C> T null P L 452 452 missense 0.979 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782172662 5q31.3 5 140808547G> C null A P 453 453 missense 0.715 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs782321736 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5q31.3 5 140808548C> T null A V 453 453 missense 0.012 benign 0.31 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1379449486 5q31.3 5 140808556C> T null Q * 456 456 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1301708433 5q31.3 5 140808584A> G null E G 465 465 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1445142594 5q31.3 5 140808586A> C null N H 466 466 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124643 5q31.3 5 140808591C> G null N K 467 467 missense 0.933 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs868962455 5q31.3 5 140808592C> T null P S 468 468 missense 0.89 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781956119 cosmic curated [Cosmic]: breast, [Cosmic]: central_nervous_system cosmic_study:379,cosmic_study:414 5q31.3 5 140808596C> T null P L 469 469 missense 0.957 probably damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1554124647 5q31.3 5 140808599G> A null G D 470 470 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782103936 5q31.3 5 140808598G> A null G S 470 470 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs781943764 5q31.3 5 140808602G> A null C Y 471 471 missense 0.018 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124653 5q31.3 5 140808605A> G null H R 472 472 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124655 5q31.3 5 140808613A> G null T A 475 475 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124656 5q31.3 5 140808614C> T null T I 475 475 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1165249307 5q31.3 5 140808617T> A null V E 476 476 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs549483688 5q31.3 5 140808616G> A null V M 476 476 2.0E-4 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124661 5q31.3 5 140808620C> T null S F 477 477 missense 0.951 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1554124657 5q31.3 5 140808619T> A null S T 477 477 missense 0.104 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1257156985 5q31.3 5 140808622G> T null A S 478 478 missense 0.92 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1257156985 5q31.3 5 140808622G> A null A T 478 478 missense 0.89 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1181544885 5q31.3 5 140808623C> T null A V 478 478 missense 0.312 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781834509 5q31.3 5 140808626G> A null W * 479 479 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1206477664 5q31.3 5 140808627G> A null W * 479 479 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115173372 5q31.3 5 140808625T> G null W G 479 479 0.006589 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115173372 5q31.3 5 140808625T> C null W R 479 479 0.006589 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782443934 5q31.3 5 140808628G> C null D H 480 480 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1483022520 5q31.3 5 140808634G> A null D N 482 482 missense 0.959 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144422081 5q31.3 5 140808638C> A null A E 483 483 0.009185 missense 0.104 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144422081 5q31.3 5 140808638C> T null A V 483 483 0.009185 missense 0.027 benign 0.08 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1311531851 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808643G> A null E K 485 485 missense 0.422 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124677 5q31.3 5 140808653T> C null L P 488 488 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782365511 5q31.3 5 140808652C> G null L V 488 488 missense 0.853 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782195065 5q31.3 5 140808655G> T null V L 489 489 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124681 5q31.3 5 140808665C> T null S L 492 492 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124680 5q31.3 5 140808664T> C null S P 492 492 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782417866 5q31.3 5 140808668T> A null L Q 493 493 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782032441 5q31.3 5 140808674A> C null E A 495 495 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs146494318 5q31.3 5 140808677G> A null R Q 496 496 missense 0.366 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs369858637 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 5q31.3 5 140808676C> T null R W 496 496 missense 0.992 probably damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs782098483 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808679C> T null R W 497 497 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781798904 5q31.3 5 140808683T> G null V G 498 498 missense 0.899 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed rs782685843 5q31.3 5 140808682G> A null V I 498 498 missense 0.603 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782814995 5q31.3 5 140808689A> G null E G 500 500 missense 0.106 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs140993559 5q31.3 5 140808691C> T null R C 501 501 missense 0.121 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs140993559 5q31.3 5 140808691C> G null R G 501 501 missense 0.82 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs555898168 5q31.3 5 140808692G> A null R H 501 501 2.0E-4 missense 0.121 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124703 5q31.3 5 140808700T> C null S P 504 504 missense 0.972 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115774628 5q31.3 5 140808704G> A null S N 505 505 0.008986 missense 0.315 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562218779 5q31.3 5 140808705C> G null S R 505 505 missense 0.962 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1212194365 5q31.3 5 140808708C> G null Y * 506 506 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1265286248 5q31.3 5 140808710T> G null V G 507 507 missense 0.847 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782467255 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808709G> A null V I 507 507 missense 0.112 benign 0.18 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs538251882 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808713C> T null S L 508 508 2.0E-4 missense 0.233 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782371086 5q31.3 5 140808715G> A null V M 509 509 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1288388505 5q31.3 5 140808718C> T null H Y 510 510 missense 0.955 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs577899528 5q31.3 5 140808722C> A null A E 511 511 2.0E-4 missense 0.958 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1348144933 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808721G> A null A T 511 511 missense 0.89 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114390057 5q31.3 5 140808724G> A null E K 512 512 0.001997 missense 0.249 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114390057 5q31.3 5 140808724G> C null E Q 512 512 0.001997 missense 0.351 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes rs559957887 5q31.3 5 140808728G> A null S N 513 513 2.0E-4 missense 0.913 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124735 5q31.3 5 140808730G> C null G R 514 514 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124735 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 5q31.3 5 140808730G> A null G S 514 514 missense 0.965 probably damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124738 5q31.3 5 140808731G> T null G V 514 514 missense 0.947 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1389730174 5q31.3 5 140808735G> T null K N 515 515 missense 0.735 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1291582762 5q31.3 5 140808736G> A null V M 516 516 missense 0.962 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374265125 5q31.3 5 140808741C> G null Y * 517 517 5.99E-4 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782024587 5q31.3 5 140808742G> A null A T 518 518 missense 0.127 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124750 5q31.3 5 140808748C> T null Q * 520 520 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124761 5q31.3 5 140808752C> T null P L 521 521 missense 0.852 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782107494 5q31.3 5 140808751C> T null P S 521 521 missense 0.168 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782729225 5q31.3 5 140808755T> C null L P 522 522 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781847203 5q31.3 5 140808757G> T null D Y 523 523 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124765 5q31.3 5 140808760C> A null H N 524 524 missense 0.777 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs150405058 5q31.3 5 140808762C> A null H Q 524 524 missense 0.873 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs150405058 5q31.3 5 140808762C> G null H Q 524 524 missense 0.873 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124770 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808763G> A null E K 525 525 missense 0.82 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs142480630 5q31.3 5 140808769C> G null L V 527 527 0.02296 missense 0.067 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781867451 5q31.3 5 140808778C> G null L V 530 530 missense 0.911 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1465939551 5q31.3 5 140808794C> G null T S 535 535 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782615790 5q31.3 5 140808796G> C null A P 536 536 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs782615790 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808796G> A null A T 536 536 missense 0.969 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,gnomAD rs139276513 5q31.3 5 140808797C> T null A V 536 536 missense 0.652 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1207755540 5q31.3 5 140808799C> G null R G 537 537 missense 0.022 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1207755540 5q31.3 5 140808799C> A null R S 537 537 missense 0.055 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,NCI-TCGA,gnomAD rs533708736 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808802G> A null D N 538 538 2.0E-4 missense 0.534 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124813 5q31.3 5 140808806C> G null A G 539 539 missense 0.615 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1233807402 5q31.3 5 140808808G> A null G S 540 540 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782363831 5q31.3 5 140808815C> T null P L 542 542 missense 0.856 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782363831 5q31.3 5 140808815C> A null P Q 542 542 missense 0.351 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124825 5q31.3 5 140808818C> T null P L 543 543 missense 0.192 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142005186 5q31.3 5 140808824G> C null G A 545 545 3.99E-4 missense 0.113 benign 0.05 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142005186 5q31.3 5 140808824G> A null G D 545 545 3.99E-4 missense 0.899 possibly damaging 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1437037170 5q31.3 5 140808823G> A null G S 545 545 missense 0.351 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142005186 5q31.3 5 140808824G> T null G V 545 545 3.99E-4 missense 0.856 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1456969374 5q31.3 5 140808826A> G null S G 546 546 missense 0.03 benign 0.23 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1382810188 5q31.3 5 140808829A> C null N H 547 547 missense 0.114 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1382810188 5q31.3 5 140808829A> T null N Y 547 547 missense 0.787 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782815654 5q31.3 5 140808832G> A null V M 548 548 missense 0.981 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124834 5q31.3 5 140808835A> G null T A 549 549 missense 0.792 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782131323 5q31.3 5 140808836C> T null T M 549 549 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782131323 5q31.3 5 140808836C> G null T R 549 549 missense 0.461 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124838 5q31.3 5 140808841C> A null Q K 551 551 missense 0.381 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs542272513 5q31.3 5 140808844G> A null V M 552 552 missense 0.923 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1466970963 5q31.3 5 140808849C> A null F L 553 553 missense 0.059 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781838352 5q31.3 5 140808851T> C null V A 554 554 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1377582762 5q31.3 5 140808850G> T null V L 554 554 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1377582762 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22722201,cosmic_study:385 5q31.3 5 140808850G> A null V M 554 554 missense 1.0 probably damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1451689285 5q31.3 5 140808858C> G null D E 556 556 missense 0.931 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782428956 5q31.3 5 140808861A> C null E D 557 557 missense 0.911 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl,NCI-TCGA rs267600385 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:376,cosmic_study:417 5q31.3 5 140808859G> A null E K 557 557 missense 0.167 benign 0.03 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs567779090 5q31.3 5 140808865G> C null D H 559 559 2.0E-4 missense 0.641 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs567779090 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808865G> A null D N 559 559 2.0E-4 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782630901 5q31.3 5 140808872C> A null A E 561 561 missense 0.127 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782630901 5q31.3 5 140808872C> G null A G 561 561 missense 0.627 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146197308 5q31.3 5 140808877G> A null A T 563 563 7.99E-4 missense 0.007 benign 0.19 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1344157467 5q31.3 5 140808881T> C null L P 564 564 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1344157467 5q31.3 5 140808881T> G null L R 564 564 missense 0.315 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782412304 5q31.3 5 140808880C> G null L V 564 564 missense 0.692 possibly damaging 0.33 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782248203 5q31.3 5 140808887C> A null A E 566 566 missense 0.005 benign 0.23 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782248203 5q31.3 5 140808887C> G null A G 566 566 missense 0.001 benign 0.48 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124867 5q31.3 5 140808886G> A null A T 566 566 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782248203 5q31.3 5 140808887C> T null A V 566 566 missense 0.003 benign 0.11 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782706780 cosmic curated [Cosmic]: liver cosmic_study:323 5q31.3 5 140808890C> T null P L 567 567 missense 0.018 benign 0.06 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1296615329 5q31.3 5 140808889C> T null P S 567 567 missense 0.012 benign 0.13 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs782804250 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 5q31.3 5 140808893G> A null R Q 568 568 missense 0.096 benign 0.41 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,NCI-TCGA,gnomAD rs13189658 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808892C> T null R W 568 568 2.0E-4 missense 0.003 benign 0.23 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781855860 5q31.3 5 140808895G> C null A P 569 569 missense 0.003 benign 0.35 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124875 5q31.3 5 140808896C> T null A V 569 569 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124877 5q31.3 5 140808905C> T null T I 572 572 missense 0.003 benign 0.11 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124881 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808911G> A null G D 574 574 missense 0.36 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782513861 5q31.3 5 140808910G> A null G S 574 574 missense 0.02 benign 0.26 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1396651990 5q31.3 5 140808913G> T null A S 575 575 missense 0.023 benign 0.2 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781794115 5q31.3 5 140808917T> C null V A 576 576 missense 0.012 benign 0.12 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562220905 5q31.3 5 140808920G> A null S N 577 577 missense 0.012 benign 0.1 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782455168 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808922G> A null E K 578 578 missense 0.092 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782292532 5q31.3 5 140808928G> C null V L 580 580 missense 0.024 benign 0.15 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs553655178 5q31.3 5 140808936G> T null W C 582 582 2.0E-4 missense 0.579 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124895 5q31.3 5 140808934T> G null W G 582 582 missense 0.072 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124895 5q31.3 5 140808934T> C null W R 582 582 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782653809 5q31.3 5 140808938C> A null S * 583 583 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782653809 5q31.3 5 140808938C> T null S L 583 583 missense 0.046 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124905 5q31.3 5 140808941T> G null V G 584 584 missense 0.044 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782219196 5q31.3 5 140808940G> A null V M 584 584 missense 0.192 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782358037 5q31.3 5 140808944G> A null G D 585 585 missense 0.018 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124908 5q31.3 5 140808943G> A null G S 585 585 missense 0.05 benign 0.08 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124909 5q31.3 5 140808947T> C null V A 586 586 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124911 5q31.3 5 140808954C> G null H Q 588 588 missense 0.061 benign 0.1 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781916233 5q31.3 5 140808956T> C null V A 589 589 missense 0.615 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1369862214 cosmic curated [Cosmic]: pancreas cosmic_study:328 5q31.3 5 140808955G> A null V M 589 589 missense 0.888 possibly damaging 0.03 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124915 5q31.3 5 140808959T> G null V G 590 590 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs142493803 5q31.3 5 140808961G> A null A T 591 591 missense 0.011 benign 0.23 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124924 5q31.3 5 140808965A> C null K T 592 592 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124926 5q31.3 5 140808967G> A null V M 593 593 missense 0.774 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1441304336 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140808971G> A null R H 594 594 missense 0.099 benign 0.09 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1441304336 5q31.3 5 140808971G> T null R L 594 594 missense 0.105 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs879959461 5q31.3 5 140808970C> A null R S 594 594 missense 0.169 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782400718 5q31.3 5 140808973G> C null A P 595 595 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781991192 5q31.3 5 140808974C> T null A V 595 595 missense 0.326 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124934 5q31.3 5 140808977T> C null V A 596 596 missense 0.358 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124931 5q31.3 5 140808976G> A null V M 596 596 missense 0.248 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124940 5q31.3 5 140808989C> A null S * 600 600 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782057126 5q31.3 5 140808992G> C null G A 601 601 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs17844283 5q31.3 5 140808999C> G null N K 603 603 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs17844283 5q31.3 5 140808999C> A null N K 603 603 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 NCI-TCGA,gnomAD rs267600386 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140809010C> T null S L 607 607 missense 0.501 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562221741 5q31.3 5 140809014C> A null Y * 608 608 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1225926404 5q31.3 5 140809012T> A null Y N 608 608 missense 0.776 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782755918 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5q31.3 5 140809025C> T null P L 612 612 missense 0.007 benign 0.1 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782569898 5q31.3 5 140809024C> T null P S 612 612 missense 0.012 benign 0.24 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs139851359 5q31.3 5 140809028G> C null G A 613 613 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124952 5q31.3 5 140809031C> A null T N 614 614 missense 0.062 benign 0.07 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124952 5q31.3 5 140809031C> G null T S 614 614 missense 0.001 benign 0.15 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782614839 5q31.3 5 140809036G> A null G S 616 616 missense 0.02 benign 0.22 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs782455641 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:376 5q31.3 5 140809039G> A null A T 617 617 missense 0.005 benign 0.09 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782283778 5q31.3 5 140809042C> T null R C 618 618 missense 0.78 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1311161177 NCI-TCGA Cosmic [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 5q31.3 5 140809043G> A null R H 618 618 missense 0.021 benign 0.12 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1311161177 5q31.3 5 140809043G> T null R L 618 618 missense 0.014 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782636095 5q31.3 5 140809047C> G null I M 619 619 missense 0.188 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782208317 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 5q31.3 5 140809049C> T null P L 620 620 missense 0.015 benign 0.08 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1307759029 5q31.3 5 140809053C> A null F L 621 621 missense 0.106 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124966 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5q31.3 5 140809054C> T null R C 622 622 missense 0.924 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs576133564 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140809055G> A null R H 622 622 3.99E-4 missense 0.812 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs576133564 5q31.3 5 140809055G> T null R L 622 622 3.99E-4 missense 0.615 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124969 5q31.3 5 140809058T> C null V A 623 623 missense 0.16 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124972 5q31.3 5 140809061G> A null G E 624 624 missense 0.924 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782422711 5q31.3 5 140809060G> A null G R 624 624 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124972 5q31.3 5 140809061G> T null G V 624 624 missense 0.924 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs543142225 5q31.3 5 140809064T> G null L R 625 625 2.0E-4 missense 0.915 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP rs149719719 5q31.3 5 140809067A> G null Y C 626 626 missense 0.952 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124981 5q31.3 5 140809069A> G null T A 627 627 missense 0.779 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124986 5q31.3 5 140809077G> C null E D 629 629 missense 0.946 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1183753194 5q31.3 5 140809079T> C null I T 630 630 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1250955428 5q31.3 5 140809084A> G null T A 632 632 missense 0.067 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554124989 5q31.3 5 140809085C> G null T R 632 632 missense 0.867 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1202399974 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:22573403,cosmic_study:432 5q31.3 5 140809088C> T null T M 633 633 missense 0.939 probably damaging 0.01 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs746844684 5q31.3 5 140809090C> T null R C 634 634 missense 0.099 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs746844684 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 5q31.3 5 140809090C> G null R G 634 634 missense 0.073 benign 0.04 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376395074 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:376 5q31.3 5 140809091G> A null R H 634 634 missense 0.944 probably damaging 0.01 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782551783 5q31.3 5 140809094C> A null A D 635 635 missense 0.029 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782551783 5q31.3 5 140809094C> T null A V 635 635 missense 0.012 benign 0.09 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781864694 5q31.3 5 140809101C> A null D E 637 637 missense 0.245 benign 0.17 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782619886 5q31.3 5 140809099G> A null D N 637 637 missense 0.92 probably damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs532147064 5q31.3 5 140809102G> T null E * 638 638 2.0E-4 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs532147064 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140809102G> A null E K 638 638 2.0E-4 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs540996422 5q31.3 5 140809106C> A null T K 639 639 3.99E-4 missense 0.009 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs540996422 cosmic curated [Cosmic]: breast pubmed:22722201,cosmic_study:385 5q31.3 5 140809106C> T null T M 639 639 3.99E-4 missense 0.025 benign 0.07 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782204017 5q31.3 5 140809112C> T null A V 641 641 missense 0.012 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed rs17844284 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:414 5q31.3 5 140809115C> T null P L 642 642 missense 0.019 benign 0.04 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782409819 5q31.3 5 140809114C> T null P S 642 642 missense 0.046 benign 0.18 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs142688560 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140809117C> T null R C 643 643 2.0E-4 missense 0.91 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142688560 5q31.3 5 140809117C> A null R S 643 643 2.0E-4 missense 0.11 benign 0.17 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125014 5q31.3 5 140809123C> T null R C 645 645 missense 0.046 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147674000 cosmic curated [Cosmic]: large_intestine cosmic_study:376 5q31.3 5 140809124G> A null R H 645 645 0.003794 missense 0.046 benign 0.05 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147674000 5q31.3 5 140809124G> T null R L 645 645 0.003794 missense 0.615 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781933598 5q31.3 5 140809127T> C null L P 646 646 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562222868 5q31.3 5 140809130T> C null L P 647 647 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125021 5q31.3 5 140809139T> C null V A 650 650 missense 0.534 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125024 5q31.3 5 140809146C> A null D E 652 652 missense 0.926 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782812274 5q31.3 5 140809149C> A null H Q 653 653 missense 0.972 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125027 5q31.3 5 140809147C> T null H Y 653 653 missense 0.972 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,NCI-TCGA,TOPMed,gnomAD rs370475370 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5q31.3 5 140809151G> A null G D 654 654 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125029 5q31.3 5 140809150G> A null G S 654 654 missense 0.982 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs558715293 5q31.3 5 140809153G> T null E * 655 655 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC rs567757480 5q31.3 5 140809155G> T null E D 655 655 2.0E-4 missense 0.106 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs558715293 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:24145436,cosmic_study:549 5q31.3 5 140809153G> A null E K 655 655 missense 0.18 benign 0.08 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs558715293 5q31.3 5 140809153G> C null E Q 655 655 missense 0.906 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs142332964 5q31.3 5 140809156C> T null P S 656 656 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs142332964 5q31.3 5 140809156C> A null P T 656 656 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146303235 5q31.3 5 140809159G> T null A S 657 657 2.0E-4 missense 0.09 benign 0.1 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146303235 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 5q31.3 5 140809159G> A null A T 657 657 2.0E-4 missense 0.053 benign 0.04 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs147908793 5q31.3 5 140809160C> T null A V 657 657 missense 0.031 benign 0.12 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs782482719 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140809162C> G null L V 658 658 missense 0.894 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1275758806 5q31.3 5 140809166C> T null T M 659 659 missense 0.26 benign 0.05 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125055 5q31.3 5 140809171A> G null T A 661 661 missense 0.96 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782188990 5q31.3 5 140809172C> A null T K 661 661 missense 0.991 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125067 5q31.3 5 140809181T> G null V G 664 664 missense 0.937 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782248044 5q31.3 5 140809180G> A null V M 664 664 missense 0.382 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782091901 5q31.3 5 140809189T> C null S P 667 667 missense 0.877 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1435429734 5q31.3 5 140809195G> T null V L 669 669 missense 0.018 benign 0.05 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1387208859 5q31.3 5 140809203T> G null S R 671 671 missense 0.84 possibly damaging 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782023023 5q31.3 5 140809205G> C null G A 672 672 missense 0.046 benign 0.14 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,gnomAD rs782769972 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140809207C> A null Q K 673 673 missense 0.547 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125084 5q31.3 5 140809211C> A null A E 674 674 missense 0.735 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125084 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 5q31.3 5 140809211C> T null A V 674 674 missense 0.033 benign 0.14 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1425817282 5q31.3 5 140809226C> T null S L 679 679 missense 0.011 benign 0.11 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1452307952 5q31.3 5 140809229G> T null R L 680 680 missense 0.492 possibly damaging 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1452307952 5q31.3 5 140809229G> C null R P 680 680 missense 0.049 benign 0.07 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes rs538670718 5q31.3 5 140809231G> A null A T 681 681 2.0E-4 missense 0.007 benign 0.16 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1190740414 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5q31.3 5 140809232C> T null A V 681 681 missense 0.007 benign 0.24 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1465518164 5q31.3 5 140809237G> A null V M 683 683 missense 0.037 benign 0.07 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1241553010 5q31.3 5 140809241G> A null G D 684 684 missense 0.599 possibly damaging 0.05 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125099 5q31.3 5 140809240G> C null G R 684 684 missense 0.073 benign 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1241553010 5q31.3 5 140809241G> T null G V 684 684 missense 0.599 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs553716577 5q31.3 5 140809243G> T null A S 685 685 2.0E-4 missense 0.015 benign 0.33 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125101 5q31.3 5 140809244C> T null A V 685 685 missense 0.005 benign 0.14 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782209352 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140809250G> A null G D 687 687 missense 0.012 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782209352 5q31.3 5 140809250G> T null G V 687 687 missense 0.012 benign 0.07 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1314068849 5q31.3 5 140809252C> A null P T 688 688 missense 0.003 benign 0.18 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,NCI-TCGA,TOPMed rs150467607 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 5q31.3 5 140809255G> A null D N 689 689 missense 0.196 benign 0.02 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs565672389 5q31.3 5 140809258G> A null A T 690 690 2.0E-4 missense 0.007 benign 0.47 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125107 5q31.3 5 140809261G> T null A S 691 691 missense 0.019 benign 0.22 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125113 5q31.3 5 140809268T> G null V G 693 693 missense 0.915 probably damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782439695 5q31.3 5 140809272T> G null D E 694 694 missense 0.831 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781990926 5q31.3 5 140809277A> G null N S 696 696 missense 0.523 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782137059 5q31.3 5 140809282T> C null Y H 698 698 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782732716 5q31.3 5 140809286T> A null L Q 699 699 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781967550 5q31.3 5 140809288A> G null I V 700 700 missense 0.113 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782054971 5q31.3 5 140809291A> T null I F 701 701 missense 0.945 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125121 5q31.3 5 140809295C> T null A V 702 702 missense 0.89 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1449558535 5q31.3 5 140809302C> A null C * 704 704 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125129 5q31.3 5 140809304C> A null A E 705 705 missense 0.689 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1554125126 5q31.3 5 140809303G> C null A P 705 705 missense 0.866 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125129 cosmic curated [Cosmic]: breast pubmed:22495314,cosmic_study:384 5q31.3 5 140809304C> T null A V 705 705 missense 0.039 benign 0.02 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17844285 5q31.3 5 140809306G> T null V L 706 706 0.01597 missense 0.453 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125135 5q31.3 5 140809310C> T null S F 707 707 missense 0.106 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1333425784 5q31.3 5 140809314C> G null S R 708 708 missense 0.97 probably damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782158465 5q31.3 5 140809319T> A null L * 710 710 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782158465 5q31.3 5 140809319T> G null L W 710 710 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1169021514 5q31.3 5 140809321G> T null V L 711 711 missense 0.999 probably damaging 0.11 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125144 5q31.3 5 140809324C> T null L F 712 712 missense 0.299 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1419045044 5q31.3 5 140809328C> G null T R 713 713 missense 0.959 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1185037292 5q31.3 5 140809331T> G null L R 714 714 missense 0.959 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs782036778 5q31.3 5 140809334T> C null L P 715 715 missense 0.162 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs782036778 5q31.3 5 140809334T> G null L R 715 715 missense 0.915 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes rs576165362 5q31.3 5 140809337T> C null L P 716 716 2.0E-4 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125155 5q31.3 5 140809341C> A null Y * 717 717 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC rs782466044 5q31.3 5 140809339T> C null Y H 717 717 missense 0.987 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs138998178 5q31.3 5 140809345G> A null A T 719 719 missense 0.796 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782686583 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 5q31.3 5 140809361C> T null A V 724 724 missense 0.031 benign 0.09 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs543555386 5q31.3 5 140809367C> A null P H 726 726 2.0E-4 missense 0.093 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs543555386 5q31.3 5 140809367C> T null P L 726 726 2.0E-4 missense 0.099 benign 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782392679 5q31.3 5 140809366C> T null P S 726 726 missense 0.068 benign 0.06 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782392679 5q31.3 5 140809366C> A null P T 726 726 missense 0.543 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782154101 5q31.3 5 140809372G> C null E Q 728 728 missense 0.082 benign 0.09 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125172 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 5q31.3 5 140809376G> A null G D 729 729 missense 0.159 benign 0.04 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl,NCI-TCGA rs77547730 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140809378G> A null A T 730 730 missense 0.007 benign 0.14 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs558389511 5q31.3 5 140809383C> A null C * 731 731 2.0E-4 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,gnomAD rs558389511 5q31.3 5 140809383C> G null C W 731 731 2.0E-4 missense 0.052 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125176 5q31.3 5 140809382G> A null C Y 731 731 missense 0.459 possibly damaging 0.11 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1379248044 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 5q31.3 5 140809384G> A null A T 732 732 missense 0.003 benign 0.02 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,NCI-TCGA,TOPMed,gnomAD rs782714901 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q31.3 5 140809388C> T null P L 733 733 missense 0.027 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125184 5q31.3 5 140809395G> C null K N 735 735 missense 0.093 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs781909645 5q31.3 5 140809400C> A null T K 737 737 missense 0.009 benign 0.11 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782496896 5q31.3 5 140809406T> G null V G 739 739 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs781828358 5q31.3 5 140809405G> C null V L 739 739 missense 0.652 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782200079 5q31.3 5 140809410C> A null C * 740 740 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782561720 5q31.3 5 140809409G> C null C S 740 740 missense 0.89 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1428831386 5q31.3 5 140809412C> A null S Y 741 741 missense 0.952 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ExAC,TOPMed,gnomAD rs541059549 5q31.3 5 140809414A> G null S G 742 742 2.0E-4 missense 0.113 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,gnomAD rs145922941 5q31.3 5 140809415G> T null S I 742 742 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,gnomAD rs145922941 5q31.3 5 140809415G> A null S N 742 742 missense 0.894 possibly damaging 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1168580497 5q31.3 5 140809417G> C null A P 743 743 missense 0.162 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125201 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 5q31.3 5 140809418C> T null A V 743 743 missense 0.703 possibly damaging 0.02 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1562225455 5q31.3 5 140809421T> C null V A 744 744 missense 0.041 benign 0.07 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs1554125205 5q31.3 5 140809420G> T null V L 744 744 missense 0.041 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125207 5q31.3 5 140809430G> A null W * 747 747 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782243123 5q31.3 5 140809431G> A null W * 747 747 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs760109122 5q31.3 5 140809433C> T null S L 748 748 missense 0.238 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1187355294 5q31.3 5 140809439C> A null S * 750 750 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1187355294 5q31.3 5 140809439C> T null S L 750 750 missense 0.12 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148640226 5q31.3 5 140809438T> A null S T 750 750 0.001597 missense 0.874 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1187355294 5q31.3 5 140809439C> G null S W 750 750 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125216 5q31.3 5 140809441C> T null Q * 751 751 stop gained 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782301046 5q31.3 5 140809445A> C null Q P 752 752 missense 0.625 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed,gnomAD rs782301046 5q31.3 5 140809445A> G null Q R 752 752 missense 0.018 benign 0.24 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125221 5q31.3 5 140809460T> G null V G 757 757 missense 0.691 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782009545 5q31.3 5 140809462T> A null C S 758 758 missense 0.499 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1223238346 cosmic curated [Cosmic]: lung cosmic_study:417 5q31.3 5 140809473G> C null E D 761 761 missense 0.999 probably damaging 0.05 tolerated - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed,gnomAD rs1250038191 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: cervix cosmic_study:415 5q31.3 5 140809471G> A null E K 761 761 missense 0.999 probably damaging 0.0 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed rs782745865 5q31.3 5 140809475G> C null G A 762 762 missense 0.05 benign 0.13 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,TOPMed rs782745865 5q31.3 5 140809475G> A null G D 762 762 missense 0.71 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ESP,ExAC,TOPMed,gnomAD rs150783892 5q31.3 5 140809474G> A null G S 762 762 missense 0.121 benign 0.02 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125241 5q31.3 5 140809478C> T null P L 763 763 missense 0.018 benign 0.13 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782448560 5q31.3 5 140809477C> T null P S 763 763 missense 0.046 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125246 5q31.3 5 140809481C> G null P R 764 764 missense 0.564 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125244 5q31.3 5 140809480C> T null P S 764 764 missense 0.046 benign 0.04 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782810628 5q31.3 5 140809491C> A null D E 767 767 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125251 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS, [Cosmic]: liver pubmed:24265154,cosmic_study:381,cosmic_study:526 5q31.3 5 140809489G> A null D N 767 767 missense 1.0 probably damaging 0.02 deleterious - low confidence 1 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782500159 5q31.3 5 140809495A> G null M V 769 769 missense 0.382 benign 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782212508 5q31.3 5 140809505G> T null S I 772 772 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782212508 5q31.3 5 140809505G> A null S N 772 772 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782554104 5q31.3 5 140809508C> T null P L 773 773 missense 0.519 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 ExAC,gnomAD rs782554104 5q31.3 5 140809508C> G null P R 773 773 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1288901774 5q31.3 5 140809507C> T null P S 773 773 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 TOPMed rs1390804817 5q31.3 5 140809510A> G null S G 774 774 missense 0.045 benign 0.17 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374214403 5q31.3 5 140809511G> A null S N 774 774 2.0E-4 missense 0.839 possibly damaging 0.36 tolerated - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 Ensembl rs868909071 5q31.3 5 140809512T> A null S R 774 774 missense 0.937 probably damaging 0.0 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374214403 5q31.3 5 140809511G> C null S T 774 774 2.0E-4 missense 0.812 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSW8 PCDHA4 Protocadherin alpha-4 gnomAD rs1554125265 5q31.3 5 140809514T> C null L S 775 775 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,TOPMed,gnomAD rs183187189 12q23.3 12 104287431G> A null E K 2 2 3.99E-4 missense 0.379 benign 0.07 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200037001 12q23.3 12 104288936G> T null G C 4 4 2.0E-4 missense 0.217 benign 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs755285720 12q23.3 12 104288937G> A null G D 4 4 missense 0.795 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200037001 12q23.3 12 104288936G> A null G S 4 4 2.0E-4 missense 0.193 benign 0.05 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs768084670 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104288942G> T null A S 6 6 missense 0.006 benign 1.0 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs768084670 12q23.3 12 104288942G> A null A T 6 6 missense 0.009 benign 0.44 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs753160871 12q23.3 12 104288943C> T null A V 6 6 missense 0.023 benign 0.21 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs755642351 12q23.3 12 104288946T> G null L R 7 7 missense 0.73 possibly damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1360173965 12q23.3 12 104288945C> G null L V 7 7 missense 0.034 benign 0.95 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1414539043 12q23.3 12 104288948G> A null E K 8 8 missense 0.009 benign 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1168492778 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104288952G> A null G E 9 9 missense 0.0 benign 1.0 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs777313209 12q23.3 12 104288951G> A null G R 9 9 missense 0.001 benign 0.08 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1168492778 12q23.3 12 104288952G> T null G V 9 9 missense 0.038 benign 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1410707594 12q23.3 12 104288958T> C null L P 11 11 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1372616821 12q23.3 12 104288957C> G null L V 11 11 missense 0.833 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs756997829 12q23.3 12 104288967T> A null L * 14 14 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1450733646 cosmic curated [Cosmic]: prostate pubmed:22610119,cosmic_study:392 12q23.3 12 104288970C> T null A V 15 15 missense 0.001 benign 0.06 tolerated 1 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1468033796 12q23.3 12 104288973C> A null A E 16 16 missense 0.068 benign 0.11 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,NCI-TCGA,TOPMed,gnomAD rs778413832 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104288972G> A null A T 16 16 missense 0.001 benign 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs925960555 12q23.3 12 104288975G> T null E * 17 17 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1212274281 12q23.3 12 104288982A> G null D G 19 19 missense 0.0 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs780174812 12q23.3 12 104288984C> G null L V 20 20 missense 0.0 benign 1.0 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34259558 12q23.3 12 104288987C> T null P S 21 21 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs1053379083 12q23.3 12 104288997T> C null F S 24 24 missense 0.183 benign 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,NCI-TCGA,TOPMed,gnomAD rs756140350 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104289007G> C null Q H 27 27 missense 0.357 benign 0.04 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,NCI-TCGA,gnomAD rs773469710 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 12q23.3 12 104289013G> C null K N 29 29 missense 0.0 benign 0.06 tolerated 1 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1256542836 12q23.3 12 104289016A> G null I M 30 30 missense 0.336 benign 0.18 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,TOPMed,gnomAD rs541123877 12q23.3 12 104289015T> C null I T 30 30 2.0E-4 missense 0.018 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1186713810 12q23.3 12 104289020G> A null G S 32 32 missense 0.575 possibly damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs771243619 12q23.3 12 104289025T> A null H Q 33 33 missense 0.085 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs774379762 12q23.3 12 104289026G> A null G S 34 34 missense 0.0 benign 0.11 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs778822919 12q23.3 12 104289029C> T null P S 35 35 missense 0.0 benign 0.58 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs759951170 12q23.3 12 104289032A> G null T A 36 36 missense 0.028 benign 0.07 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1373949700 12q23.3 12 104289033C> G null T S 36 36 missense 0.045 benign 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs762543774 12q23.3 12 104311291C> T null A V 39 39 missense 0.059 benign 0.11 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1306122055 12q23.3 12 104311294A> G null Y C 40 40 missense 0.556 possibly damaging 0.04 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368264904 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104311306G> T null R I 44 44 missense 0.005 benign 0.47 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs368264904 12q23.3 12 104311306G> C null R T 44 44 missense 0.0 benign 0.76 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1344963853 12q23.3 12 104311309T> A null L H 45 45 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1201180712 12q23.3 12 104311316G> T null K N 47 47 missense 0.001 benign 0.1 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1244458586 12q23.3 12 104311318T> G null L R 48 48 missense 0.681 possibly damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP rs370792362 12q23.3 12 104311317C> G null L V 48 48 missense 0.044 benign 0.07 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1420256570 12q23.3 12 104311321T> C null L P 49 49 missense 0.069 benign 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1376978102 12q23.3 12 104311323A> G null K E 50 50 missense 0.0 benign 0.61 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1174096581 12q23.3 12 104311327T> G null M R 51 51 missense 0.098 benign 0.52 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs921358598 12q23.3 12 104311329A> G null N D 52 52 missense 0.007 benign 0.36 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs59826073 12q23.3 12 104311331C> A null N K 52 52 missense 0.014 benign 0.38 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1259306332 12q23.3 12 104311330A> G null N S 52 52 missense 0.013 benign 0.41 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373897464 12q23.3 12 104311332G> A null G S 53 53 2.0E-4 missense 0.007 benign 0.52 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1193238149 12q23.3 12 104311333G> T null G V 53 53 missense 0.169 benign 0.13 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs767393020 12q23.3 12 104311336C> T null P L 54 54 missense 0.0 benign 0.31 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs752399449 12q23.3 12 104311340A> C null E D 55 55 missense 0.001 benign 0.26 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs984087229 12q23.3 12 104311343T> G null D E 56 56 missense 0.0 benign 0.35 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs760668225 12q23.3 12 104311342A> G null D G 56 56 missense 0.0 benign 0.08 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1288494641 12q23.3 12 104311352G> T null K N 59 59 missense 0.034 benign 0.34 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144186955 12q23.3 12 104311351A> C null K T 59 59 5.99E-4 missense 0.001 benign 0.46 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs371761559 12q23.3 12 104311354C> G null S C 60 60 missense 0.328 benign 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,NCI-TCGA,TOPMed,gnomAD rs780170129 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 12q23.3 12 104311357A> G null Y C 61 61 missense 0.977 probably damaging 0.0 deleterious 1 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs781652017 12q23.3 12 104311372T> C null I T 66 66 missense 0.933 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs755134146 12q23.3 12 104311371A> G null I V 66 66 missense 0.02 benign 0.6 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1217672420 12q23.3 12 104311374A> G null I V 67 67 missense 0.0 benign 1.0 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs367795908 12q23.3 12 104311378T> C null I T 68 68 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs778369836 12q23.3 12 104311384G> A null G D 70 70 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs748815422 12q23.3 12 104311395G> T null G C 74 74 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs770512643 12q23.3 12 104311401G> A null A T 76 76 missense 0.497 possibly damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1401497333 12q23.3 12 104311404G> C null A P 77 77 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs751564436 12q23.3 12 104313248G> A null A T 81 81 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs939732681 12q23.3 12 104313258A> G null Y C 84 84 missense 0.026 benign 0.04 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1405892530 12q23.3 12 104313264A> G null K R 86 86 missense 0.028 benign 0.27 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs972420538 12q23.3 12 104313267A> G null K R 87 87 missense 0.112 benign 0.14 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs972420538 12q23.3 12 104313267A> C null K T 87 87 missense 0.328 benign 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,dbSNP,gnomAD rs201402862 12q23.3 12 104313269G> A null V M 88 88 missense 0.958 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,gnomAD rs539790683 12q23.3 12 104313274G> A null M I 89 89 2.0E-4 missense 0.019 benign 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,gnomAD rs539790683 12q23.3 12 104313274G> T null M I 89 89 2.0E-4 missense 0.019 benign 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs757803357 12q23.3 12 104313278C> G null L V 91 91 missense 0.66 possibly damaging 0.09 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1366677033 12q23.3 12 104313285T> A null F Y 93 93 missense 0.049 benign 0.7 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs374176114 12q23.3 12 104313291C> T null T I 95 95 missense 0.027 benign 0.11 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs771768747 12q23.3 12 104313293C> G null P A 96 96 missense 0.277 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376722303 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104313300C> G null P R 98 98 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs866003550 12q23.3 12 104313299C> A null P T 98 98 missense 0.788 possibly damaging 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1243866805 12q23.3 12 104313302C> G null L V 99 99 missense 0.001 benign 0.55 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1292246536 12q23.3 12 104313306G> C null G A 100 100 missense 0.329 benign 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1437092937 12q23.3 12 104313311A> G null R G 102 102 missense 0.056 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1185181726 12q23.3 12 104315777G> A null G D 104 104 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs757806081 12q23.3 12 104315779C> G null L V 105 105 missense 0.663 possibly damaging 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,gnomAD rs370602169 12q23.3 12 104315782G> T null G * 106 106 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,NCI-TCGA,gnomAD rs370602169 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104315782G> A null G R 106 106 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs768267361 12q23.3 12 104315791T> C null C R 109 109 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1270347246 12q23.3 12 104315792G> A null C Y 109 109 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs781034697 12q23.3 12 104315800G> A null V M 112 112 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs772556336 12q23.3 12 104315803G> A null G S 113 113 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs769786426 12q23.3 12 104315807G> A null C Y 114 114 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1013561365 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104315810T> C null I T 115 115 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs772958586 12q23.3 12 104315809A> G null I V 115 115 missense 0.865 possibly damaging 0.08 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1166778729 12q23.3 12 104315822T> C null L P 119 119 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1205872643 12q23.3 12 104315826G> C null M I 120 120 missense 0.959 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1205872643 12q23.3 12 104315826G> T null M I 120 120 missense 0.959 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs759696226 12q23.3 12 104315824A> T null M L 120 120 missense 0.566 possibly damaging 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1446669007 12q23.3 12 104315834C> T null A V 123 123 missense 0.938 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs775677523 12q23.3 12 104315837C> T null A V 124 124 missense 0.971 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1370522201 12q23.3 12 104315844A> C null L F 126 126 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs761041431 12q23.3 12 104315846G> C null G A 127 127 missense 0.686 possibly damaging 0.04 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs764395444 12q23.3 12 104315848C> A null Q K 128 128 missense 0.107 benign 0.13 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs754265222 12q23.3 12 104315849A> C null Q P 128 128 missense 0.951 probably damaging 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs762016002 12q23.3 12 104315851G> A null A T 129 129 missense 0.086 benign 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368438379 12q23.3 12 104315862C> G null D E 132 132 2.0E-4 missense 0.808 possibly damaging 0.07 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs779580588 12q23.3 12 104315864C> T null S F 133 133 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs758915877 12q23.3 12 104315863T> C null S P 133 133 missense 0.947 probably damaging 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs751064845 12q23.3 12 104315866C> T null R * 134 134 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1345555948 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:452 12q23.3 12 104315867G> A null R Q 134 134 missense 0.01 benign 0.21 tolerated 1 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs1565897978 12q23.3 12 104315879G> A null W * 138 138 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1273300151 12q23.3 12 104315882A> C null K T 139 139 missense 0.001 benign 0.09 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs1565898014 12q23.3 12 104315888A> G null E G 141 141 missense 0.003 benign 0.27 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs370451389 cosmic curated [Cosmic]: ovary cosmic_study:585 12q23.3 12 104315887G> A null E K 141 141 missense 0.017 benign 0.53 tolerated 1 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1354048933 12q23.3 12 104315893A> G null T A 143 143 missense 0.0 benign 0.6 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1294881107 12q23.3 12 104315896G> A null V I 144 144 missense 0.003 benign 0.37 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs939146908 12q23.3 12 104318923T> A null D E 147 147 missense 0.052 benign 0.07 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1238364284 12q23.3 12 104318922A> G null D G 147 147 missense 0.267 benign 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs1565899804 12q23.3 12 104318921G> A null D N 147 147 missense 0.001 benign 0.93 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs763437541 12q23.3 12 104318927G> C null D H 149 149 missense 0.0 benign 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs766860634 12q23.3 12 104318933A> C null M L 151 151 missense 0.046 benign 0.66 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1476581143 12q23.3 12 104318942G> A null A T 154 154 missense 0.396 benign 0.09 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs751084996 12q23.3 12 104318943C> T null A V 154 154 missense 0.348 benign 0.05 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC rs752246417 12q23.3 12 104318950G> T null Q H 156 156 missense 0.95 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,TOPMed,gnomAD rs553294226 12q23.3 12 104318949A> G null Q R 156 156 2.0E-4 missense 0.223 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1281485886 12q23.3 12 104318954C> G null H D 158 158 missense 0.824 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs777492995 12q23.3 12 104318957A> C null I L 159 159 missense 0.892 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs777492995 12q23.3 12 104318957A> G null I V 159 159 missense 0.201 benign 0.31 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1452201104 12q23.3 12 104318974G> A null W * 164 164 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1377856903 12q23.3 12 104318972T> G null W G 164 164 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1377856903 12q23.3 12 104318972T> C null W R 164 164 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs199677400 12q23.3 12 104318975G> A null G S 165 165 missense 0.259 benign 0.13 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1201990704 12q23.3 12 104318976G> T null G V 165 165 missense 0.892 possibly damaging 0.17 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs778924100 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 12q23.3 12 104318981C> T null R * 167 167 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs778924100 12q23.3 12 104318981C> G null R G 167 167 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs189358801 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 12q23.3 12 104318982G> A null R Q 167 167 2.0E-4 missense 0.999 probably damaging 0.02 deleterious 1 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs768805307 12q23.3 12 104318984G> T null V L 168 168 missense 0.131 benign 0.17 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs200501549 12q23.3 12 104318994G> A null R Q 171 171 missense 0.251 benign 0.18 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs748358920 12q23.3 12 104318993C> T null R W 171 171 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs773508677 12q23.3 12 104318996G> T null E * 172 172 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs773508677 12q23.3 12 104318996G> C null E Q 172 172 missense 0.033 benign 0.04 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,TOPMed,gnomAD rs539105473 12q23.3 12 104319008G> A null V I 176 176 2.0E-4 missense 0.0 benign 0.07 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,NCI-TCGA,TOPMed,gnomAD rs767067096 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104319012A> G null Y C 177 177 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs752224301 12q23.3 12 104319024A> T null Y F 181 181 missense 0.007 benign 0.26 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs755776124 12q23.3 12 104319049G> T null R S 189 189 missense 0.035 benign 0.09 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs763741734 12q23.3 12 104319054A> C null K T 191 191 missense 0.136 benign 0.13 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs758378865 12q23.3 12 104319470G> A null A T 192 192 missense 0.007 benign 0.2 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1397030164 12q23.3 12 104319477A> G null N S 194 194 missense 0.024 benign 0.21 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1392888372 12q23.3 12 104319484A> T null K N 196 196 missense 0.023 benign 0.31 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes rs551790587 12q23.3 12 104319485G> A null G S 197 197 2.0E-4 missense 0.479 possibly damaging 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1261112283 12q23.3 12 104319499T> G null I M 201 201 missense 0.085 benign 0.19 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1288586459 12q23.3 12 104319498T> A null I N 201 201 missense 0.083 benign 0.28 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1288586459 12q23.3 12 104319498T> C null I T 201 201 missense 0.0 benign 0.56 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs879068510 12q23.3 12 104319503T> C null S P 203 203 missense 0.505 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs748247557 12q23.3 12 104319513G> T null R I 206 206 missense 0.02 benign 0.07 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs1127953 12q23.3 12 104319514A> T null R S 206 206 missense 0.019 benign 0.2 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs769923658 12q23.3 12 104319516T> C null F S 207 207 missense 0.975 probably damaging 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1334228336 12q23.3 12 104319521A> G null I V 209 209 missense 0.041 benign 0.15 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs749687527 12q23.3 12 104319525C> G null A G 210 210 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs771238802 12q23.3 12 104319527A> G null T A 211 211 missense 0.337 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs774680042 12q23.3 12 104319542C> T null R C 216 216 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377062126 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:583 12q23.3 12 104319543G> A null R H 216 216 missense 0.111 benign 0.05 tolerated 1 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs768051791 12q23.3 12 104319545T> C null Y H 217 217 missense 0.643 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs760161625 12q23.3 12 104319564A> T null D V 223 223 missense 0.687 possibly damaging 0.33 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs763682075 12q23.3 12 104319567A> G null K R 224 224 missense 0.003 benign 0.39 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs753479266 12q23.3 12 104319573A> G null Y C 226 226 missense 0.024 benign 0.07 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs369698058 12q23.3 12 104319580C> G null I M 228 228 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs960636786 12q23.3 12 104319578A> G null I V 228 228 missense 0.546 possibly damaging 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs371619524 12q23.3 12 104319583C> G null S R 229 229 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1421865028 12q23.3 12 104319585G> A null S N 230 230 missense 0.985 probably damaging 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs376182332 12q23.3 12 104321091T> A null S R 230 230 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1484756580 12q23.3 12 104321096A> T null D V 232 232 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs751467869 12q23.3 12 104321098C> T null L F 233 233 missense 0.426 benign 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs751467869 12q23.3 12 104321098C> G null L V 233 233 missense 0.098 benign 0.07 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1256239019 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104321105C> T null S F 235 235 missense 0.631 possibly damaging 0.08 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1322643228 12q23.3 12 104321110C> T null P S 237 237 missense 0.01 benign 0.09 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1179476565 12q23.3 12 104321115C> G null Y * 238 238 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs754851493 12q23.3 12 104321120C> T null P L 240 240 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs988157885 12q23.3 12 104321122G> A null G S 241 241 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1184000134 12q23.3 12 104321128A> G null T A 243 243 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs368876895 12q23.3 12 104321129C> T null T I 243 243 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs757479401 12q23.3 12 104321135T> C null V A 245 245 missense 0.913 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs753914959 12q23.3 12 104321134G> A null V I 245 245 missense 0.213 benign 0.11 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs753914959 12q23.3 12 104321134G> C null V L 245 245 missense 0.053 benign 0.04 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1317869101 12q23.3 12 104321147C> G null S C 249 249 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1401840467 12q23.3 12 104321146T> C null S P 249 249 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1465743963 12q23.3 12 104321150A> G null Y C 250 250 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs911137254 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104321155G> A null A T 252 252 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1449895009 12q23.3 12 104321163G> T null E D 254 254 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs375808643 12q23.3 12 104321167G> C null A P 256 256 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375808643 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104321167G> A null A T 256 256 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1212730099 12q23.3 12 104321171G> A null G E 257 257 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1373551632 12q23.3 12 104321176C> G null L V 259 259 missense 0.652 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs747589722 12q23.3 12 104321189G> T null G V 263 263 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201777096 12q23.3 12 104321196C> A null D E 265 265 0.002596 missense 0.169 benign 0.14 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl,dbSNP rs1127954 pubmed:14980707,pubmed:7589432 12q23.3 12 104321195A> G null D G 265 265 missense 0.888 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1262709184 12q23.3 12 104321194G> A null D N 265 265 missense 0.157 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,TOPMed,gnomAD rs568459445 12q23.3 12 104321197G> A null V I 266 266 2.0E-4 missense 0.925 probably damaging 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1475331465 12q23.3 12 104321206A> T null M L 269 269 missense 0.324 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs772961907 12q23.3 12 104321207T> C null M T 269 269 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1475331465 12q23.3 12 104321206A> G null M V 269 269 missense 0.454 possibly damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs762681613 12q23.3 12 104321210T> A null V D 270 270 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs919668790 12q23.3 12 104321219T> C null I T 273 273 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs759589565 12q23.3 12 104321227A> G null R G 276 276 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs58249253 12q23.3 12 104321228G> A null R K 276 276 missense 0.82 possibly damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs767433265 12q23.3 12 104321230G> T null G * 277 277 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs994341132 12q23.3 12 104321231G> A null G E 277 277 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs753915216 12q23.3 12 104321239C> T null Q * 280 280 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs753915216 12q23.3 12 104321239C> G null Q E 280 280 missense 0.761 possibly damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1344370498 12q23.3 12 104321247G> A null M I 282 282 missense 0.003 benign 0.15 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs757283703 12q23.3 12 104321245A> C null M L 282 282 missense 0.01 benign 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs757283703 12q23.3 12 104321245A> T null M L 282 282 missense 0.01 benign 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs757283703 12q23.3 12 104321245A> G null M V 282 282 missense 0.03 benign 0.04 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1428439615 12q23.3 12 104321249C> G null A G 283 283 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,gnomAD rs373534042 12q23.3 12 104321253C> G null N K 284 284 missense 0.012 benign 0.24 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs747320918 12q23.3 12 104321264A> G null E G 288 288 missense 0.007 benign 0.05 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1261133705 12q23.3 12 104321269A> G null M V 290 290 missense 0.952 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs755522699 12q23.3 12 104321279A> G null H R 293 293 missense 0.033 benign 0.18 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1048103951 12q23.3 12 104321282G> A null G D 294 294 missense 0.642 possibly damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1282747116 12q23.3 12 104321288A> G null K R 296 296 missense 0.007 benign 0.31 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs376165844 12q23.3 12 104321293A> G null I V 298 298 missense 0.012 benign 0.17 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,gnomAD rs547545865 12q23.3 12 104321304C> G null F L 301 301 2.0E-4 missense 0.135 benign 0.54 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199586854 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104321305G> A null V I 302 302 missense 0.009 benign 0.37 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs765339832 12q23.3 12 104325347T> C null I T 309 309 missense 0.012 benign 0.15 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs377194082 12q23.3 12 104325352G> A null A T 311 311 missense 0.074 benign 0.47 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs758714889 12q23.3 12 104325353C> T null A V 311 311 missense 0.061 benign 0.23 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1392846163 12q23.3 12 104325356G> A null G E 312 312 missense 0.959 probably damaging 0.04 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs751967108 12q23.3 12 104325362C> G null P R 314 314 missense 0.959 probably damaging 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs755345269 12q23.3 12 104325367C> T null R * 316 316 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs370065005 12q23.3 12 104325368G> A null R Q 316 316 missense 0.001 benign 0.3 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,TOPMed,gnomAD rs537451137 12q23.3 12 104325374G> A null R K 318 318 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs761348494 12q23.3 12 104325375A> C null R S 318 318 missense 0.08 benign 0.11 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs768590188 12q23.3 12 104325376G> C null V L 319 319 missense 0.21 benign 0.09 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1264159001 12q23.3 12 104325379G> A null V I 320 320 missense 0.0 benign 0.29 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187437891 12q23.3 12 104325385C> G null Q E 322 322 2.0E-4 missense 0.0 benign 0.3 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs921870627 12q23.3 12 104325392C> T null T I 324 324 missense 0.172 benign 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,gnomAD rs367824614 12q23.3 12 104325395A> C null N T 325 325 missense 0.0 benign 0.35 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs770617970 12q23.3 12 104325410T> C null I T 330 330 missense 0.005 benign 0.41 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs774543561 12q23.3 12 104325416G> T null G V 332 332 missense 0.031 benign 0.05 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs773829979 12q23.3 12 104325422A> G null Y C 334 334 missense 0.137 benign 0.04 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144671274 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104325428C> T null T M 336 336 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs756686225 12q23.3 12 104326352G> A null M I 338 338 missense 0.0 benign 0.07 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1421436430 12q23.3 12 104326350A> C null M L 338 338 missense 0.0 benign 1.0 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1465738477 12q23.3 12 104326362G> C null G R 342 342 missense 0.692 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs778459297 12q23.3 12 104326371G> A null A T 345 345 missense 0.054 benign 0.05 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1404788415 12q23.3 12 104326372C> T null A V 345 345 missense 0.044 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs369434394 12q23.3 12 104326378C> T null T I 347 347 missense 0.989 probably damaging 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs369434394 12q23.3 12 104326378C> G null T R 347 347 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1278293484 12q23.3 12 104326383A> G null K E 349 349 missense 0.001 benign 0.45 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs746739868 12q23.3 12 104326386A> G null I V 350 350 missense 0.015 benign 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1302367630 12q23.3 12 104326390G> A null G D 351 351 missense 0.318 benign 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs768595021 12q23.3 12 104326395G> T null E * 353 353 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs768595021 12q23.3 12 104326395G> A null E K 353 353 missense 0.176 benign 0.07 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs776383661 12q23.3 12 104326398A> T null T S 354 354 missense 0.0 benign 0.14 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs774464712 12q23.3 12 104326402T> C null V A 355 355 missense 0.018 benign 0.81 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201533043 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 12q23.3 12 104326401G> A null V I 355 355 missense 0.007 benign 0.61 tolerated 1 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1489235810 12q23.3 12 104326404G> C null G R 356 356 missense 0.294 benign 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs373356015 12q23.3 12 104326407G> T null V L 357 357 missense 0.367 benign 0.09 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs373356015 12q23.3 12 104326407G> A null V M 357 357 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs753112371 12q23.3 12 104326411A> G null K R 358 358 missense 0.003 benign 0.12 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs956191162 12q23.3 12 104326414T> C null I T 359 359 missense 0.005 benign 0.75 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1466839944 12q23.3 12 104326420A> G null E G 361 361 missense 0.003 benign 0.11 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs761059705 12q23.3 12 104326419G> A null E K 361 361 missense 0.001 benign 0.39 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs942572248 12q23.3 12 104327520G> A null G E 364 364 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs896788733 12q23.3 12 104327522A> G null K E 365 365 missense 0.935 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1455889666 12q23.3 12 104327525A> G null I V 366 366 missense 0.02 benign 0.23 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs200564560 12q23.3 12 104327534A> G null T A 369 369 missense 0.01 benign 0.17 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs200564560 12q23.3 12 104327534A> T null T S 369 369 missense 0.0 benign 0.26 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs772432668 12q23.3 12 104327538A> G null D G 370 370 missense 0.518 possibly damaging 0.09 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1378811279 12q23.3 12 104327540G> A null E K 371 371 missense 0.005 benign 0.35 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1240657169 cosmic curated [Cosmic]: skin pubmed:22622578,cosmic_study:388 12q23.3 12 104327543G> A null E K 372 372 missense 0.981 probably damaging 0.0 deleterious 1 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1311873165 12q23.3 12 104327547A> G null Q R 373 373 missense 0.019 benign 0.15 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs376847283 12q23.3 12 104327553A> G null N S 375 375 missense 0.007 benign 0.64 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs777042997 12q23.3 12 104327556T> C null V A 376 376 missense 0.614 possibly damaging 0.05 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs762295999 12q23.3 12 104327559C> G null P R 377 377 missense 0.29 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1451315965 12q23.3 12 104327558C> T null P S 377 377 missense 0.042 benign 0.09 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1431660702 12q23.3 12 104327566C> G null I M 379 379 missense 0.941 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1236621543 12q23.3 12 104327565T> C null I T 379 379 missense 0.932 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs749950620 12q23.3 12 104327574T> C null I T 382 382 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,TOPMed,gnomAD rs574454350 12q23.3 12 104327573A> G null I V 382 382 9.98E-4 missense 0.022 benign 0.48 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs751185225 12q23.3 12 104327579G> A null D N 384 384 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs766050563 12q23.3 12 104327584A> G null I M 385 385 missense 0.694 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs754635705 12q23.3 12 104327589A> C null E A 387 387 missense 0.071 benign 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ESP,ExAC,gnomAD rs375374294 12q23.3 12 104327588G> A null E K 387 387 2.0E-4 missense 0.021 benign 0.05 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs377363341 12q23.3 12 104327596G> C null K N 389 389 missense 0.906 possibly damaging 0.05 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs1253556679 12q23.3 12 104327598T> C null V A 390 390 missense 0.005 benign 0.17 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs756956430 12q23.3 12 104327597G> T null V L 390 390 missense 0.0 benign 0.55 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs747967804 12q23.3 12 104327600G> A null E K 391 391 missense 0.927 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs756007506 12q23.3 12 104327604T> C null L P 392 392 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs777792474 12q23.3 12 104327607C> T null T I 393 393 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs777792474 12q23.3 12 104327607C> A null T N 393 393 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1183023432 12q23.3 12 104327609C> T null P S 394 394 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs370350536 12q23.3 12 104327618A> G null I V 397 397 missense 0.165 benign 0.08 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1218126935 12q23.3 12 104327621C> T null Q * 398 398 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,gnomAD rs375933357 12q23.3 12 104327632A> C null R S 401 401 missense 0.337 benign 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs747600243 12q23.3 12 104327635G> C null L F 402 402 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1237257253 12q23.3 12 104327636C> A null L M 403 403 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,gnomAD rs576410327 12q23.3 12 104327639G> T null A S 404 404 0.001198 missense 0.61 possibly damaging 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs776866265 12q23.3 12 104327643A> G null Q R 405 405 missense 0.001 benign 1.0 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs762180731 12q23.3 12 104327657G> A null G S 410 410 missense 0.063 benign 0.05 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs765685462 12q23.3 12 104327663A> G null T A 412 412 missense 0.0 benign 0.18 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs374989029 12q23.3 12 104331534T> G null C G 415 415 missense 0.91 probably damaging 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs374989029 12q23.3 12 104331534T> C null C R 415 415 missense 0.971 probably damaging 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs763507590 12q23.3 12 104331547A> G null N S 419 419 missense 0.009 benign 0.15 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs771422423 12q23.3 12 104331555A> G null T A 422 422 missense 0.457 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs773853213 12q23.3 12 104331570C> T null P S 427 427 missense 0.771 possibly damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1478808352 12q23.3 12 104331577A> G null E G 429 429 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1414437274 12q23.3 12 104331580A> G null Y C 430 430 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs759025387 12q23.3 12 104331588T> C null C R 433 433 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1353621656 12q23.3 12 104331591G> C null G R 434 434 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs752350921 12q23.3 12 104331613T> G null V G 441 441 missense 0.17 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs1417682386 12q23.3 12 104331612G> A null V M 441 441 missense 0.025 benign 0.04 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs367604146 12q23.3 12 104331619A> G null K R 443 443 missense 0.007 benign 0.64 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1396420040 12q23.3 12 104331623T> A null F L 444 444 missense 0.036 benign 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs764041824 12q23.3 12 104331622T> C null F S 444 444 missense 0.884 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1438872679 12q23.3 12 104331625G> A null G E 445 445 missense 0.925 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs753683360 12q23.3 12 104331624G> A null G R 445 445 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs753683360 12q23.3 12 104331624G> C null G R 445 445 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs778938164 12q23.3 12 104331637T> C null I T 449 449 missense 0.95 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs1043476501 12q23.3 12 104331636A> G null I V 449 449 missense 0.026 benign 0.44 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs751615938 12q23.3 12 104331641G> T null E D 450 450 missense 0.381 benign 0.03 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs758996793 12q23.3 12 104334237G> T null V F 451 451 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs758996793 12q23.3 12 104334237G> A null V I 451 451 missense 0.122 benign 0.13 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1375098877 12q23.3 12 104334241A> G null Y C 452 452 missense 0.748 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1456183288 12q23.3 12 104334246A> G null S G 454 454 missense 0.744 possibly damaging 0.1 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1200228142 12q23.3 12 104334247G> A null S N 454 454 missense 0.122 benign 0.2 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1382606875 12q23.3 12 104334250du p null Y * 455 455 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,NCI-TCGA,gnomAD rs760474615 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104334271C> T null T M 462 462 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1160785069 12q23.3 12 104334274T> G null I S 463 463 missense 0.58 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs763775599 12q23.3 12 104334277C> T null P L 464 464 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs761654538 12q23.3 12 104334291A> G null N D 469 469 missense 0.214 benign 0.19 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1169922286 12q23.3 12 104334293C> A null N K 469 469 missense 0.66 possibly damaging 0.11 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs765296774 12q23.3 12 104334298G> T null C F 471 471 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs765296774 12q23.3 12 104334298G> A null C Y 471 471 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1382811172 12q23.3 12 104334301A> T null Y F 472 472 missense 0.771 possibly damaging 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed,gnomAD rs976843517 12q23.3 12 104334303G> A null A T 473 473 missense 0.27 benign 0.06 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1414807427 12q23.3 12 104334307A> C null K T 474 474 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs750455176 12q23.3 12 104334316G> A null C Y 477 477 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs760735240 12q23.3 12 104334318A> G null N D 478 478 missense 0.011 benign 0.68 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs375723971 12q23.3 12 104334321A> G null T A 479 479 missense 0.001 benign 0.11 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1220071987 12q23.3 12 104334327G> T null D Y 481 481 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs781389811 12q23.3 12 104334331A> G null N S 482 482 missense 0.0 benign 0.26 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369684801 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104339142C> T null R C 484 484 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs373593847 12q23.3 12 104339143G> A null R H 484 484 missense 0.15 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1197114266 12q23.3 12 104339148G> C null V L 486 486 missense 0.014 benign 1.0 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs542935965 12q23.3 12 104339152G> C null G A 487 487 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,NCI-TCGA,TOPMed,gnomAD rs776384523 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104339160G> A null V I 490 490 missense 0.005 benign 0.83 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs776384523 12q23.3 12 104339160G> T null V L 490 490 missense 0.022 benign 0.26 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase 1000Genomes,ExAC,NCI-TCGA,gnomAD rs557961762 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104339166G> A null G S 492 492 2.0E-4 missense 0.916 probably damaging 0.05 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1254242769 12q23.3 12 104339175G> A null A T 495 495 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs370121871 12q23.3 12 104339179G> A null G E 496 496 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs373217616 12q23.3 12 104339183A> C null E D 497 497 missense 0.501 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1281647298 12q23.3 12 104339187A> G null T A 499 499 missense 0.205 benign 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase Ensembl rs1319245400 12q23.3 12 104339191A> T null Q L 500 500 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1225092786 12q23.3 12 104339202G> A null A T 504 504 missense 0.024 benign 0.1 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs756135502 12q23.3 12 104339206C> T null A V 505 505 missense 0.865 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1239191078 12q23.3 12 104339208C> A null L I 506 506 missense 0.029 benign 0.61 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,ExAC,TOPMed,gnomAD rs376301938 12q23.3 12 104339211A> T null K * 507 507 stop gained 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs757460912 12q23.3 12 104339213A> T null K N 507 507 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs779404990 12q23.3 12 104339218G> A null G E 509 509 missense 0.981 probably damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs758961544 12q23.3 12 104339220C> G null L V 510 510 missense 0.007 benign 0.22 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1330252182 12q23.3 12 104339230A> G null K R 513 513 missense 0.0 benign 0.34 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ESP,TOPMed,gnomAD rs371451228 12q23.3 12 104339242G> A null S N 517 517 missense 0.0 benign 0.69 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs746550669 12q23.3 12 104339250G> A null G R 520 520 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1378933290 12q23.3 12 104339262G> T null V F 524 524 missense 0.651 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs760629905 cosmic curated [Cosmic]: prostate cosmic_study:435 12q23.3 12 104348353G> C null V L 528 528 missense 0.001 benign 0.32 tolerated 1 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase gnomAD rs1468530419 12q23.3 12 104348375C> T null T I 535 535 missense 0.911 probably damaging 0.02 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1015208925 12q23.3 12 104348380C> T null R C 537 537 missense 0.902 possibly damaging 0.0 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,TOPMed,gnomAD rs775255749 12q23.3 12 104348381G> A null R H 537 537 missense 0.735 possibly damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs763152962 12q23.3 12 104348386G> A null G R 539 539 missense 0.792 possibly damaging 0.01 deleterious 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase TOPMed rs1429251360 12q23.3 12 104348395A> G null I V 542 542 missense 0.0 benign 1.0 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs759930904 12q23.3 12 104348405C> T null A V 545 545 missense 0.023 benign 0.09 tolerated 0 A0A087WSW9 TXNRD1 Thioredoxin-disulfide reductase ExAC,gnomAD rs768166002 12q23.3 12 104348417G> A null G D 548 548 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1171310307 22q11.22 22 22376017G> A null A T 2 2 missense 0.635 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed rs1244631971 22q11.22 22 22376022G> T null W C 3 3 missense 0.728 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs368553440 22q11.22 22 22376024C> A null T N 4 4 missense 0.207 benign 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs1422359572 22q11.22 22 22376023A> T null T S 4 4 missense 0.115 benign 0.09 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed rs554672917 22q11.22 22 22376026C> T null P S 5 5 missense 0.259 benign 0.05 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed rs554672917 22q11.22 22 22376026C> A null P T 5 5 missense 0.348 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs776904423 22q11.22 22 22376032C> T null L F 7 7 missense 0.308 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1326222267 22q11.22 22 22376033T> C null L P 7 7 missense 0.979 probably damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs368274086 22q11.22 22 22376041T> C null F L 10 10 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs904237063 22q11.22 22 22376044C> T null L F 11 11 missense 0.213 benign 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs746772058 22q11.22 22 22376045T> G null L R 11 11 missense 0.487 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs904237063 22q11.22 22 22376044C> G null L V 11 11 missense 0.213 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs1174609775 22q11.22 22 22376048C> G null S C 12 12 missense 0.168 benign 0.06 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1253916590 22q11.22 22 22376055C> A null C * 14 14 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs775941862 22q11.22 22 22376053T> G null C G 14 14 missense 0.111 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1451092596 22q11.22 22 22376056A> G null T A 15 15 missense 0.11 benign 0.09 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1360451580 22q11.22 22 22376057C> T null T I 15 15 missense 0.3 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs770614438 22q11.22 22 22376183G> A null G D 16 16 missense 0.934 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs1482472206 22q11.22 22 22376186C> T null S F 17 17 missense 0.834 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1251688953 22q11.22 22 22376189T> C null L P 18 18 missense 0.795 possibly damaging 0.05 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,NCI-TCGA,TOPMed,gnomAD rs762807433 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376192C> T null S L 19 19 missense 0.844 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs775365710 22q11.22 22 22376191T> C null S P 19 19 missense 0.718 possibly damaging 0.15 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1454375259 22q11.22 22 22376196G> T null Q H 20 20 missense 0.579 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs1469864275 22q11.22 22 22376194C> A null Q K 20 20 missense 0.393 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs61731380 22q11.22 22 22376197G> C null A P 21 21 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs61731380 22q11.22 22 22376197G> A null A T 21 21 missense 0.003 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs755243682 22q11.22 22 22376201T> C null V A 22 22 missense 0.19 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs779080442 22q11.22 22 22376203C> G null L V 23 23 missense 0.116 benign 0.2 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs758890568 22q11.22 22 22376207C> T null T I 24 24 missense 0.698 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1373258673 22q11.22 22 22376210A> T null Q L 25 25 missense 0.826 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12157664 22q11.22 22 22376213C> T null P L 26 26 0.004593 missense 0.284 benign 0.08 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12157664 22q11.22 22 22376213C> A null P Q 26 26 0.004593 missense 0.879 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12157664 22q11.22 22 22376213C> G null P R 26 26 0.004593 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs1387481871 22q11.22 22 22376212C> T null P S 26 26 missense 0.632 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs1387481871 22q11.22 22 22376212C> A null P T 26 26 missense 0.632 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1985918 22q11.22 22 22376215T> G null S A 27 27 0.1893 missense 0.0 benign 0.09 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1985918 22q11.22 22 22376215T> C null S P 27 27 0.1893 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1985918 22q11.22 22 22376215T> A null S T 27 27 0.1893 missense 0.0 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs768484152 22q11.22 22 22376219C> T null S F 28 28 missense 0.47 possibly damaging 0.05 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1254559036 22q11.22 22 22376222T> C null L P 29 29 missense 0.271 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1196344872 22q11.22 22 22376221C> G null L V 29 29 missense 0.13 benign 0.35 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,NCI-TCGA rs761763804 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376225C> G null S C 30 30 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1190056749 22q11.22 22 22376224T> C null S P 30 30 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs761763804 22q11.22 22 22376225C> A null S Y 30 30 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed rs1453484545 22q11.22 22 22376227G> A null A T 31 31 missense 0.449 possibly damaging 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs759600760 22q11.22 22 22376228C> T null A V 31 31 missense 0.189 benign 0.2 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1171094768 22q11.22 22 22376230T> C null S P 32 32 missense 0.196 benign 0.06 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1171094768 22q11.22 22 22376230T> A null S T 32 32 missense 0.196 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs753016294 22q11.22 22 22376233C> G null P A 33 33 missense 0.884 possibly damaging 0.18 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed rs758804422 22q11.22 22 22376234C> A null P H 33 33 missense 0.71 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed rs758804422 22q11.22 22 22376234C> T null P L 33 33 missense 0.089 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs753016294 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376233C> T null P S 33 33 missense 0.411 benign 0.09 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs778311013 22q11.22 22 22376236G> T null G * 34 34 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1397037303 22q11.22 22 22376237G> C null G A 34 34 missense 0.801 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs778311013 22q11.22 22 22376236G> A null G R 34 34 missense 0.902 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs745376165 22q11.22 22 22376240C> A null A E 35 35 missense 0.14 benign 0.12 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs557530881 22q11.22 22 22376239G> C null A P 35 35 3.99E-4 missense 0.9 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs557530881 22q11.22 22 22376239G> T null A S 35 35 3.99E-4 missense 0.104 benign 0.27 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs557530881 22q11.22 22 22376239G> A null A T 35 35 3.99E-4 missense 0.038 benign 0.63 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs748973630 22q11.22 22 22376243C> A null S * 36 36 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs779729500 22q11.22 22 22376242T> G null S A 36 36 missense 0.086 benign 0.08 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs779729500 22q11.22 22 22376242T> C null S P 36 36 missense 0.134 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs779729500 22q11.22 22 22376242T> A null S T 36 36 missense 0.036 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs761673710 22q11.22 22 22376246C> A null A D 37 37 missense 0.497 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs761673710 22q11.22 22 22376246C> G null A G 37 37 missense 0.925 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1217257663 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376245G> A null A T 37 37 missense 0.529 possibly damaging 0.06 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs761673710 22q11.22 22 22376246C> T null A V 37 37 missense 0.136 benign 0.47 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs571380511 22q11.22 22 22376248A> T null S C 38 38 2.0E-4 missense 0.63 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs61731379 22q11.22 22 22376250T> A null S R 38 38 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs571380511 22q11.22 22 22376248A> C null S R 38 38 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 Ensembl rs1555911617 22q11.22 22 22376250_22376251delinsA T null S RF 38 39 missense 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs79280084 22q11.22 22 22376251C> T null L F 39 39 missense 0.48 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs764493177 22q11.22 22 22376252T> G null L R 39 39 missense 0.764 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs79280084 22q11.22 22 22376251C> G null L V 39 39 missense 0.48 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs757625882 22q11.22 22 22376254A> G null T A 40 40 missense 0.406 benign 0.12 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs781712244 22q11.22 22 22376255C> T null T I 40 40 missense 0.456 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs757625882 22q11.22 22 22376254A> C null T P 40 40 missense 0.282 benign 0.15 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs757625882 22q11.22 22 22376254A> T null T S 40 40 missense 0.219 benign 0.32 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs750937348 22q11.22 22 22376257T> C null C R 41 41 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs779564405 22q11.22 22 22376261C> G null T S 42 42 missense 0.606 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs536844597 22q11.22 22 22376260A> T null T S 42 42 2.0E-4 missense 0.606 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs754631889 22q11.22 22 22376264T> A null L * 43 43 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2009587 22q11.22 22 22376265G> C null L F 43 43 0.4095 missense 0.584 possibly damaging 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs754631889 22q11.22 22 22376264T> C null L S 43 43 missense 0.912 probably damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs748885703 22q11.22 22 22376263T> G null L V 43 43 missense 0.48 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs775724557 22q11.22 22 22376268C> A null C * 44 44 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149965450 22q11.22 22 22376267G> T null C F 44 44 3.99E-4 missense 0.0 benign 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61731372 22q11.22 22 22376266T> G null C G 44 44 0.01877 missense 0.0 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61731372 22q11.22 22 22376266T> C null C R 44 44 0.01877 missense 0.0 benign 0.18 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 Ensembl rs1555911625 22q11.22 22 22376265_22376266in v null C R 44 44 missense 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61731372 22q11.22 22 22376266T> A null C S 44 44 0.01877 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149965450 22q11.22 22 22376267G> A null C Y 44 44 3.99E-4 missense 0.0 benign 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs763199279 22q11.22 22 22376269A> G null S G 45 45 missense 0.13 benign 0.06 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs937022821 22q11.22 22 22376270G> A null S N 45 45 missense 0.196 benign 0.08 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs764403280 22q11.22 22 22376271T> A null S R 45 45 missense 0.13 benign 0.14 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs555771292 22q11.22 22 22376273G> C null G A 46 46 5.99E-4 missense 0.328 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs555771292 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376273G> A null G D 46 46 5.99E-4 missense 0.072 benign 0.56 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,gnomAD rs541705014 22q11.22 22 22376275A> T null I F 47 47 2.0E-4 missense 0.007 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,gnomAD rs541705014 22q11.22 22 22376275A> C null I L 47 47 2.0E-4 missense 0.015 benign 0.42 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs750895320 22q11.22 22 22376276T> A null I N 47 47 missense 0.039 benign 0.23 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs750895320 22q11.22 22 22376276T> C null I T 47 47 missense 0.039 benign 0.35 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,gnomAD rs541705014 22q11.22 22 22376275A> G null I V 47 47 2.0E-4 missense 0.015 benign 0.32 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs765810608 22q11.22 22 22376278A> G null N D 48 48 missense 0.024 benign 0.16 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs765810608 22q11.22 22 22376278A> C null N H 48 48 missense 0.097 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs202076025 22q11.22 22 22376279A> T null N I 48 48 missense 0.015 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs564762940 22q11.22 22 22376280T> G null N K 48 48 2.0E-4 missense 0.024 benign 0.05 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs564762940 22q11.22 22 22376280T> A null N K 48 48 2.0E-4 missense 0.024 benign 0.05 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs202076025 22q11.22 22 22376279A> G null N S 48 48 missense 0.007 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs202076025 22q11.22 22 22376279A> C null N T 48 48 missense 0.042 benign 0.09 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,TOPMed,gnomAD rs61731378 22q11.22 22 22376281G> T null V F 49 49 missense 0.406 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,TOPMed,gnomAD rs61731378 22q11.22 22 22376281G> A null V I 49 49 missense 0.164 benign 0.29 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,TOPMed,gnomAD rs61731378 22q11.22 22 22376281G> C null V L 49 49 missense 0.243 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed rs369863120 22q11.22 22 22376285G> C null G A 50 50 2.0E-4 missense 0.196 benign 0.06 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs776774166 22q11.22 22 22376284G> T null G C 50 50 missense 0.563 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed rs369863120 22q11.22 22 22376285G> A null G D 50 50 2.0E-4 missense 0.196 benign 0.05 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs776774166 22q11.22 22 22376284G> C null G R 50 50 missense 0.342 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs776774166 22q11.22 22 22376284G> A null G S 50 50 missense 0.206 benign 0.21 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed rs369863120 22q11.22 22 22376285G> T null G V 50 50 2.0E-4 missense 0.392 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs372243205 22q11.22 22 22376287A> G null T A 51 51 5.99E-4 missense 0.0 benign 0.44 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs199880348 22q11.22 22 22376288C> T null T I 51 51 missense 0.0 benign 0.28 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs199880348 22q11.22 22 22376288C> A null T N 51 51 missense 0.0 benign 0.43 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs372243205 22q11.22 22 22376287A> C null T P 51 51 5.99E-4 missense 0.025 benign 0.17 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs199880348 22q11.22 22 22376288C> G null T S 51 51 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs372243205 22q11.22 22 22376287A> T null T S 51 51 5.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs757173827 22q11.22 22 22376292C> A null Y * 52 52 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs548588169 22q11.22 22 22376291A> G null Y C 52 52 3.99E-4 missense 0.134 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs548588169 22q11.22 22 22376291A> T null Y F 52 52 3.99E-4 missense 0.058 benign 0.15 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1360007646 22q11.22 22 22376290T> A null Y N 52 52 missense 0.092 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs548588169 22q11.22 22 22376291A> C null Y S 52 52 3.99E-4 missense 0.15 benign 0.12 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs745834420 22q11.22 22 22376293A> G null R G 53 53 missense 0.003 benign 0.43 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs191752433 22q11.22 22 22376294G> A null R K 53 53 missense 0.006 benign 0.44 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs191752433 22q11.22 22 22376294G> C null R T 53 53 missense 0.003 benign 0.53 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs745834420 22q11.22 22 22376293A> T null R W 53 53 missense 0.003 benign 0.29 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs760927958 22q11.22 22 22376297T> A null I K 54 54 missense 0.474 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs565288377 22q11.22 22 22376296A> T null I L 54 54 2.0E-4 missense 0.13 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs565288377 22q11.22 22 22376296A> C null I L 54 54 2.0E-4 missense 0.13 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs528375729 22q11.22 22 22376298A> G null I M 54 54 2.0E-4 missense 0.438 benign 0.14 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs760927958 22q11.22 22 22376297T> G null I R 54 54 missense 0.904 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs760927958 22q11.22 22 22376297T> C null I T 54 54 missense 0.298 benign 0.06 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs565288377 22q11.22 22 22376296A> G null I V 54 54 2.0E-4 missense 0.091 benign 0.24 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs569938108 22q11.22 22 22376301C> G null Y * 55 55 3.99E-4 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs61731374 22q11.22 22 22376300A> G null Y C 55 55 missense 0.031 benign 0.06 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs551303331 22q11.22 22 22376299T> G null Y D 55 55 2.0E-4 missense 0.015 benign 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs61731374 22q11.22 22 22376300A> T null Y F 55 55 missense 0.003 benign 0.39 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs551303331 22q11.22 22 22376299T> C null Y H 55 55 2.0E-4 missense 0.006 benign 0.22 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs61731374 22q11.22 22 22376300A> C null Y S 55 55 missense 0.001 benign 0.45 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs183116743 22q11.22 22 22376304G> A null W * 56 56 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs780108716 22q11.22 22 22376303G> A null W * 56 56 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs183116743 22q11.22 22 22376304G> C null W C 56 56 missense 0.826 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs183116743 22q11.22 22 22376304G> T null W C 56 56 missense 0.826 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs780108716 22q11.22 22 22376303G> T null W L 56 56 missense 0.887 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs550485758 22q11.22 22 22376302T> A null W R 56 56 3.99E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs550485758 22q11.22 22 22376302T> C null W R 56 56 3.99E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs780108716 22q11.22 22 22376303G> C null W S 56 56 missense 0.892 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,TOPMed,gnomAD rs372531632 22q11.22 22 22376307C> A null Y * 57 57 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,TOPMed,gnomAD rs372531632 22q11.22 22 22376307C> G null Y * 57 57 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs535905027 22q11.22 22 22376306A> G null Y C 57 57 2.0E-4 missense 0.429 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs570156151 22q11.22 22 22376305T> G null Y D 57 57 5.99E-4 missense 0.313 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs535905027 22q11.22 22 22376306A> T null Y F 57 57 2.0E-4 missense 0.05 benign 0.2 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs570156151 22q11.22 22 22376305T> C null Y H 57 57 5.99E-4 missense 0.176 benign 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs535905027 22q11.22 22 22376306A> C null Y S 57 57 2.0E-4 missense 0.362 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs773829774 22q11.22 22 22376308C> T null Q * 58 58 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs773829774 22q11.22 22 22376308C> G null Q E 58 58 missense 0.796 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,gnomAD rs375850965 22q11.22 22 22376310G> C null Q H 58 58 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs555807954 22q11.22 22 22376309A> T null Q L 58 58 2.0E-4 missense 0.826 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs555807954 22q11.22 22 22376309A> C null Q P 58 58 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,TOPMed,gnomAD rs572516605 22q11.22 22 22376311C> T null Q * 59 59 2.0E-4 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs758371833 22q11.22 22 22376313G> C null Q H 59 59 missense 0.666 possibly damaging 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,TOPMed,gnomAD rs572516605 22q11.22 22 22376311C> A null Q K 59 59 2.0E-4 missense 0.567 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369278227 22q11.22 22 22376312A> T null Q L 59 59 2.0E-4 missense 0.974 probably damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369278227 22q11.22 22 22376312A> G null Q R 59 59 2.0E-4 missense 0.736 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs558460387 22q11.22 22 22376314A> G null K E 60 60 2.0E-4 missense 0.211 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs757475143 22q11.22 22 22376315A> T null K M 60 60 missense 0.646 possibly damaging 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs746214429 22q11.22 22 22376316G> C null K N 60 60 missense 0.211 benign 0.05 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs558460387 22q11.22 22 22376314A> C null K Q 60 60 2.0E-4 missense 0.318 benign 0.1 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs757475143 22q11.22 22 22376315A> G null K R 60 60 missense 0.211 benign 0.17 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs770238246 22q11.22 22 22376317C> G null P A 61 61 missense 0.197 benign 0.06 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs770238246 22q11.22 22 22376317C> A null P T 61 61 missense 0.411 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs1374000201 22q11.22 22 22376321G> A null G E 62 62 missense 0.603 possibly damaging 0.06 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1274937208 22q11.22 22 22376323A> G null S G 63 63 missense 0.282 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed rs1414478567 22q11.22 22 22376324G> A null S N 63 63 missense 0.194 benign 0.26 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs79492832 22q11.22 22 22376327C> T null P L 64 64 missense 0.14 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs79492832 22q11.22 22 22376327C> G null P R 64 64 missense 0.091 benign 0.09 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs774004804 22q11.22 22 22376330C> T null P L 65 65 missense 0.584 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs201262189 22q11.22 22 22376332C> T null Q * 66 66 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs201262189 22q11.22 22 22376332C> G null Q E 66 66 missense 0.167 benign 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187611736 22q11.22 22 22376334G> C null Q H 66 66 3.99E-4 missense 0.015 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187611736 22q11.22 22 22376334G> T null Q H 66 66 3.99E-4 missense 0.015 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs201262189 22q11.22 22 22376332C> A null Q K 66 66 missense 0.006 benign 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs61731373 22q11.22 22 22376333A> T null Q L 66 66 missense 0.167 benign 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs61731373 22q11.22 22 22376333A> C null Q P 66 66 missense 0.553 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs61731373 22q11.22 22 22376333A> G null Q R 66 66 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs746124629 22q11.22 22 22376337T> A null Y * 67 67 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs563700456 22q11.22 22 22376336A> G null Y C 67 67 3.99E-4 missense 0.585 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs376714741 22q11.22 22 22376335T> G null Y D 67 67 2.0E-4 missense 0.286 benign 0.09 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs563700456 22q11.22 22 22376336A> T null Y F 67 67 3.99E-4 missense 0.089 benign 0.52 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs376714741 22q11.22 22 22376335T> C null Y H 67 67 2.0E-4 missense 0.585 possibly damaging 0.05 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs376714741 22q11.22 22 22376335T> A null Y N 67 67 2.0E-4 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs563700456 22q11.22 22 22376336A> C null Y S 67 67 3.99E-4 missense 0.732 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs756392282 22q11.22 22 22376339T> A null L H 68 68 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1171366842 22q11.22 22 22376338C> A null L I 68 68 missense 0.773 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1171366842 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376338C> G null L V 68 68 missense 0.796 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs780482790 22q11.22 22 22376342T> G null L R 69 69 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,gnomAD rs542271244 22q11.22 22 22376344A> G null R G 70 70 2.0E-4 missense 0.006 benign 0.24 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202232495 22q11.22 22 22376345G> A null R K 70 70 2.0E-4 missense 0.006 benign 0.22 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202232495 22q11.22 22 22376345G> T null R M 70 70 2.0E-4 missense 0.075 benign 0.18 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs200453865 22q11.22 22 22376346G> T null R S 70 70 missense 0.005 benign 0.4 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs200453865 22q11.22 22 22376346G> C null R S 70 70 missense 0.005 benign 0.4 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202232495 22q11.22 22 22376345G> C null R T 70 70 2.0E-4 missense 0.011 benign 0.31 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,gnomAD rs542271244 22q11.22 22 22376344A> T null R W 70 70 2.0E-4 missense 0.015 benign 0.14 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,gnomAD rs528122298 22q11.22 22 22376349C> A null Y * 71 71 3.99E-4 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,gnomAD rs528122298 22q11.22 22 22376349C> G null Y * 71 71 3.99E-4 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs770572693 22q11.22 22 22376348A> G null Y C 71 71 missense 0.679 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,NCI-TCGA,gnomAD rs772961929 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376347T> G null Y D 71 71 missense 0.461 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs770572693 22q11.22 22 22376348A> T null Y F 71 71 missense 0.089 benign 0.24 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs772961929 22q11.22 22 22376347T> C null Y H 71 71 missense 0.379 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs772961929 22q11.22 22 22376347T> A null Y N 71 71 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs770572693 22q11.22 22 22376348A> C null Y S 71 71 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs201498279 22q11.22 22 22376350A> T null K * 72 72 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374582640 22q11.22 22 22376351A> T null K I 72 72 2.0E-4 missense 0.147 benign 0.09 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs201652658 22q11.22 22 22376352A> C null K N 72 72 2.0E-4 missense 0.006 benign 0.16 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374582640 22q11.22 22 22376351A> G null K R 72 72 2.0E-4 missense 0.015 benign 0.11 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374582640 22q11.22 22 22376351A> C null K T 72 72 2.0E-4 missense 0.026 benign 0.1 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs750592639 22q11.22 22 22376354C> A null S * 73 73 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs750592639 22q11.22 22 22376354C> G null S * 73 73 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs750592639 22q11.22 22 22376354C> T null S L 73 73 missense 0.274 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 Ensembl rs888503383 22q11.22 22 22376353T> C null S P 73 73 missense 0.257 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs192713801 22q11.22 22 22376356G> C null D H 74 74 missense 0.77 possibly damaging 0.1 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs192713801 22q11.22 22 22376356G> A null D N 74 74 missense 0.593 possibly damaging 0.06 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1478439186 22q11.22 22 22376360C> G null S * 75 75 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs550755709 22q11.22 22 22376359T> G null S A 75 75 2.0E-4 missense 0.489 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs550755709 22q11.22 22 22376359T> C null S P 75 75 2.0E-4 missense 0.593 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs117029072 22q11.22 22 22376363A> C null D A 76 76 2.0E-4 missense 0.296 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs759352697 22q11.22 22 22376364T> A null D E 76 76 missense 0.025 benign 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs759352697 22q11.22 22 22376364T> G null D E 76 76 missense 0.025 benign 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs117029072 22q11.22 22 22376363A> G null D G 76 76 2.0E-4 missense 0.539 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,gnomAD rs367911748 22q11.22 22 22376362G> C null D H 76 76 missense 0.058 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,gnomAD rs367911748 22q11.22 22 22376362G> A null D N 76 76 missense 0.015 benign 0.29 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,gnomAD rs367911748 22q11.22 22 22376362G> T null D Y 76 76 missense 0.058 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs185678293 22q11.22 22 22376365A> T null K * 77 77 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs185678293 22q11.22 22 22376365A> G null K E 77 77 missense 0.286 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs536441600 22q11.22 22 22376366A> T null K M 77 77 3.99E-4 missense 0.818 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs370576104 22q11.22 22 22376367G> T null K N 77 77 9.98E-4 missense 0.379 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,gnomAD rs370576104 22q11.22 22 22376367G> C null K N 77 77 9.98E-4 missense 0.379 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs185678293 22q11.22 22 22376365A> C null K Q 77 77 missense 0.411 benign 0.05 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs536441600 22q11.22 22 22376366A> C null K T 77 77 3.99E-4 missense 0.411 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs766606257 22q11.22 22 22376368C> T null Q * 78 78 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,TOPMed,gnomAD rs72490667 22q11.22 22 22376370G> C null Q H 78 78 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,TOPMed,gnomAD rs72490667 22q11.22 22 22376370G> T null Q H 78 78 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs766606257 22q11.22 22 22376368C> A null Q K 78 78 missense 0.003 benign 0.21 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs755355595 22q11.22 22 22376369A> G null Q R 78 78 missense 0.003 benign 0.1 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs778490423 22q11.22 22 22376371C> T null Q * 79 79 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs778490423 22q11.22 22 22376371C> G null Q E 79 79 missense 0.529 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs535055703 22q11.22 22 22376373G> C null Q H 79 79 2.0E-4 missense 0.497 possibly damaging 0.05 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs778490423 22q11.22 22 22376371C> A null Q K 79 79 missense 0.497 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs566158995 22q11.22 22 22376372A> T null Q L 79 79 2.0E-4 missense 0.284 benign 0.2 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs566158995 22q11.22 22 22376372A> G null Q R 79 79 2.0E-4 missense 0.393 benign 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs749150656 22q11.22 22 22376375G> C null G A 80 80 missense 0.773 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs769527152 22q11.22 22 22376374G> C null G R 80 80 missense 0.887 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs769527152 22q11.22 22 22376374G> A null G S 80 80 missense 0.916 probably damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs749150656 22q11.22 22 22376375G> T null G V 80 80 missense 0.826 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1208074124 22q11.22 22 22376377T> G null S A 81 81 missense 0.286 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs766400928 22q11.22 22 22376378C> G null S C 81 81 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs1488875808 22q11.22 22 22376381G> A null G E 82 82 missense 0.829 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs1488875808 22q11.22 22 22376381G> T null G V 82 82 missense 0.889 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs759853288 22q11.22 22 22376384T> C null V A 83 83 missense 0.606 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs759853288 22q11.22 22 22376384T> A null V D 83 83 missense 0.653 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs776865044 22q11.22 22 22376383G> A null V I 83 83 missense 0.352 benign 0.18 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs776865044 22q11.22 22 22376383G> C null V L 83 83 missense 0.47 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs765633224 22q11.22 22 22376387C> T null P L 84 84 missense 0.826 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1187796483 22q11.22 22 22376386C> T null P S 84 84 missense 0.856 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1471608146 22q11.22 22 22376389A> G null S G 85 85 missense 0.197 benign 0.08 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs753104421 22q11.22 22 22376391C> G null S R 85 85 missense 0.286 benign 0.08 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs753104421 22q11.22 22 22376391C> A null S R 85 85 missense 0.286 benign 0.08 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1159873420 22q11.22 22 22376390G> C null S T 85 85 missense 0.411 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368334334 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376392C> T null R C 86 86 2.0E-4 missense 0.211 benign 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372591334 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376393G> A null R H 86 86 9.98E-4 missense 0.099 benign 0.12 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372591334 22q11.22 22 22376393G> T null R L 86 86 9.98E-4 missense 0.211 benign 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs745463374 22q11.22 22 22376395T> C null F L 87 87 missense 0.691 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs745463374 22q11.22 22 22376395T> G null F V 87 87 missense 0.773 possibly damaging 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed rs1020516967 22q11.22 22 22376399C> T null S F 88 88 missense 0.77 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed rs1020516967 22q11.22 22 22376399C> A null S Y 88 88 missense 0.67 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs557538270 22q11.22 22 22376402G> C null G A 89 89 3.99E-4 missense 0.935 probably damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs557538270 22q11.22 22 22376402G> A null G E 89 89 3.99E-4 missense 0.971 probably damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1340039640 22q11.22 22 22376401G> A null G R 89 89 missense 0.95 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs573934978 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376405C> T null S F 90 90 2.0E-4 missense 0.579 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs538617666 22q11.22 22 22376404T> C null S P 90 90 missense 0.497 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs538617666 22q11.22 22 22376404T> A null S T 90 90 missense 0.529 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs776579680 22q11.22 22 22376409A> T null K N 91 91 missense 0.393 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC rs748058680 22q11.22 22 22376407A> C null K Q 91 91 missense 0.879 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs559050239 22q11.22 22 22376408A> C null K T 91 91 2.0E-4 missense 0.632 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs775902525 22q11.22 22 22376411A> G null D G 92 92 missense 0.574 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs572586796 22q11.22 22 22376410G> C null D H 92 92 2.0E-4 missense 0.824 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs775902525 22q11.22 22 22376411A> T null D V 92 92 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs572586796 22q11.22 22 22376410G> T null D Y 92 92 2.0E-4 missense 0.766 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs766982559 22q11.22 22 22376414C> G null A G 93 93 missense 0.176 benign 0.08 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs545003867 22q11.22 22 22376413G> C null A P 93 93 2.0E-4 missense 0.246 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs545003867 22q11.22 22 22376413G> T null A S 93 93 2.0E-4 missense 0.271 benign 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,NCI-TCGA,gnomAD rs545003867 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376413G> A null A T 93 93 2.0E-4 missense 0.083 benign 0.72 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs766982559 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376414C> T null A V 93 93 missense 0.176 benign 0.2 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147644645 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376417C> T null S L 94 94 0.002196 missense 0.47 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1156755081 22q11.22 22 22376416T> C null S P 94 94 missense 0.757 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs1298635129 22q11.22 22 22376420C> G null A G 95 95 missense 0.127 benign 0.06 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs769337771 22q11.22 22 22376419G> A null A T 95 95 missense 0.082 benign 0.13 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs1298635129 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376420C> T null A V 95 95 missense 0.127 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs778587653 22q11.22 22 22376422A> G null N D 96 96 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs771901307 22q11.22 22 22376423A> G null N S 96 96 missense 0.196 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs778587653 22q11.22 22 22376422A> T null N Y 96 96 missense 0.773 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs550641463 22q11.22 22 22376426C> G null A G 97 97 3.99E-4 missense 0.823 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs777822746 22q11.22 22 22376425G> A null A T 97 97 missense 0.13 benign 0.32 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs550641463 22q11.22 22 22376426C> T null A V 97 97 3.99E-4 missense 0.196 benign 0.05 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,NCI-TCGA,TOPMed,gnomAD rs774580961 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376429G> A null G E 98 98 missense 0.826 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs769004327 22q11.22 22 22376428G> C null G R 98 98 missense 0.887 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs769004327 22q11.22 22 22376428G> T null G W 98 98 missense 0.826 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs114116194 22q11.22 22 22376431A> C null I L 99 99 3.99E-4 missense 0.003 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs760142546 22q11.22 22 22376432T> C null I T 99 99 missense 0.017 benign 0.08 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs114116194 22q11.22 22 22376431A> G null I V 99 99 3.99E-4 missense 0.003 benign 0.32 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs566195615 22q11.22 22 22376435T> G null L * 100 100 2.0E-4 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,TOPMed,gnomAD rs374781469 22q11.22 22 22376436A> C null L F 100 100 missense 0.973 probably damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,TOPMed,gnomAD rs374781469 22q11.22 22 22376436A> T null L F 100 100 missense 0.973 probably damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs566195615 22q11.22 22 22376435T> C null L S 100 100 2.0E-4 missense 0.849 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs546803230 22q11.22 22 22376434T> G null L V 100 100 2.0E-4 missense 0.863 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs199960583 22q11.22 22 22376437C> T null L F 101 101 missense 0.079 benign 0.56 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs199960583 22q11.22 22 22376437C> A null L I 101 101 missense 0.129 benign 0.31 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs199960583 22q11.22 22 22376437C> G null L V 101 101 missense 0.033 benign 0.42 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1198125881 22q11.22 22 22376440A> T null I F 102 102 missense 0.902 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs531616261 22q11.22 22 22376441T> C null I T 102 102 missense 0.849 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs749459200 22q11.22 22 22376446G> A null G R 104 104 missense 0.584 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,gnomAD rs372814918 22q11.22 22 22376450T> C null L P 105 105 missense 0.698 possibly damaging 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1465311964 22q11.22 22 22376449C> G null L V 105 105 missense 0.603 possibly damaging 0.13 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs200883613 22q11.22 22 22376452C> T null Q * 106 106 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs762054708 22q11.22 22 22376454G> C null Q H 106 106 missense 0.827 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs200883613 22q11.22 22 22376452C> A null Q K 106 106 missense 0.579 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs772518701 22q11.22 22 22376456C> G null S C 107 107 missense 0.659 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs993104372 22q11.22 22 22376455T> C null S P 107 107 missense 0.0 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs528567411 22q11.22 22 22376459A> C null E A 108 108 2.0E-4 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs140157920 22q11.22 22 22376460G> C null E D 108 108 3.99E-4 missense 0.35 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs140157920 22q11.22 22 22376460G> T null E D 108 108 3.99E-4 missense 0.35 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs528567411 22q11.22 22 22376459A> G null E G 108 108 2.0E-4 missense 0.451 possibly damaging 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1259127019 22q11.22 22 22376458G> A null E K 108 108 missense 0.35 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ESP,ExAC,gnomAD rs376290258 22q11.22 22 22376462A> G null D G 109 109 missense 0.773 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1266669911 22q11.22 22 22376461G> A null D N 109 109 missense 0.856 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs571507588 22q11.22 22 22376465A> C null E A 110 110 2.0E-4 missense 0.584 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,NCI-TCGA,gnomAD rs571507588 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.22 22 22376465A> G null E G 110 110 2.0E-4 missense 0.662 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1209154578 22q11.22 22 22376464G> A null E K 110 110 missense 0.48 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs777729140 22q11.22 22 22376468C> G null A G 111 111 missense 0.603 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 Ensembl rs536931109 22q11.22 22 22376467G> T null A S 111 111 missense 0.801 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1036714020 22q11.22 22 22376472C> G null D E 112 112 missense 0.243 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs757263817 22q11.22 22 22376470G> A null D N 112 112 missense 0.328 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61731385 22q11.22 22 22376475T> G null Y * 113 113 0.009385 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs558839843 22q11.22 22 22376474A> G null Y C 113 113 3.99E-4 missense 0.773 possibly damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs558839843 22q11.22 22 22376474A> T null Y F 113 113 3.99E-4 missense 0.773 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1351665146 22q11.22 22 22376473T> C null Y H 113 113 missense 0.826 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1351665146 22q11.22 22 22376473T> A null Y N 113 113 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs558839843 22q11.22 22 22376474A> C null Y S 113 113 3.99E-4 missense 0.916 probably damaging 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs189370797 22q11.22 22 22376478C> G null Y * 114 114 3.99E-4 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs773575221 22q11.22 22 22376477A> G null Y C 114 114 missense 0.835 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs773575221 22q11.22 22 22376477A> T null Y F 114 114 missense 0.489 possibly damaging 0.08 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs772368967 22q11.22 22 22376476T> C null Y H 114 114 missense 0.489 possibly damaging 0.1 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs773575221 22q11.22 22 22376477A> C null Y S 114 114 missense 0.717 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs536481963 22q11.22 22 22376479T> C null C R 115 115 3.99E-4 missense 0.932 probably damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 Ensembl rs1555911820 22q11.22 22 22376482_22376484delinsGC C null M A 116 116 missense 0.003 benign 1.0 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed rs200803951 22q11.22 22 22376484G> C null M I 116 116 missense 0.177 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs149708215 22q11.22 22 22376483T> A null M K 116 116 missense 0.015 benign 0.13 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs139643222 22q11.22 22 22376482A> T null M L 116 116 3.99E-4 missense 0.007 benign 0.24 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs139643222 22q11.22 22 22376482A> C null M L 116 116 3.99E-4 missense 0.007 benign 0.24 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 TOPMed,gnomAD rs149708215 22q11.22 22 22376483T> C null M T 116 116 missense 0.007 benign 0.15 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs139643222 22q11.22 22 22376482A> G null M V 116 116 3.99E-4 missense 0.007 benign 0.12 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs534829732 22q11.22 22 22376486T> A null I N 117 117 missense 0.213 benign 0.03 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs534829732 22q11.22 22 22376486T> G null I S 117 117 missense 0.161 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs534829732 22q11.22 22 22376486T> C null I T 117 117 missense 0.029 benign 0.91 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes rs577083434 22q11.22 22 22376485A> G null I V 117 117 2.0E-4 missense 0.062 benign 0.98 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs544739530 22q11.22 22 22376490G> A null W * 118 118 3.99E-4 stop gained 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs544739530 22q11.22 22 22376490G> T null W C 118 118 3.99E-4 missense 0.679 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs544739530 22q11.22 22 22376490G> C null W C 118 118 3.99E-4 missense 0.679 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs117244515 22q11.22 22 22376491C> G null H D 119 119 missense 0.011 benign 0.21 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs779064392 22q11.22 22 22376492A> C null H P 119 119 missense 0.045 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs748256607 22q11.22 22 22376493C> A null H Q 119 119 missense 0.187 benign 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs117244515 22q11.22 22 22376491C> T null H Y 119 119 missense 0.028 benign 0.16 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs747354439 22q11.22 22 22376495G> T null S I 120 120 missense 0.47 possibly damaging 0.01 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs747354439 22q11.22 22 22376495G> A null S N 120 120 missense 0.007 benign 0.43 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 gnomAD rs1383502664 22q11.22 22 22376496C> G null S R 120 120 missense 0.019 benign 0.1 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs778029460 22q11.22 22 22376494A> C null S R 120 120 missense 0.019 benign 0.1 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,gnomAD rs747354439 22q11.22 22 22376495G> C null S T 120 120 missense 0.031 benign 0.07 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs147796555 22q11.22 22 22376497A> T null S C 121 121 2.0E-4 missense 0.83 possibly damaging 0.0 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,gnomAD rs147796555 22q11.22 22 22376497A> G null S G 121 121 2.0E-4 missense 0.011 benign 0.09 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs776960242 22q11.22 22 22376498G> A null S N 121 121 missense 0.011 benign 0.39 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs201561764 22q11.22 22 22376499C> A null S R 121 121 missense 0.067 benign 0.04 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs776960242 22q11.22 22 22376498G> C null S T 121 121 missense 0.048 benign 0.05 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs575197894 22q11.22 22 22376501C> A null A D 122 122 2.0E-4 missense 0.051 benign 0.02 deleterious 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 ExAC,TOPMed,gnomAD rs114666913 22q11.22 22 22376500G> A null A T 122 122 missense 0.019 benign 0.11 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC,TOPMed,gnomAD rs575197894 22q11.22 22 22376501C> T null A V 122 122 2.0E-4 missense 0.019 benign 0.08 tolerated 0 A0A087WSX0 IGLV5-45 Immunoglobulin lambda variable 5-45 1000Genomes,ExAC rs544176906 22q11.22 22 22376503T> G null S A 123 123 2.0E-4 missense 0.051 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1348827174 19q13.42 19 55481201G> A null G D 2 2 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1432160077 19q13.42 19 55481200G> A null G S 2 2 missense 0.934 probably damaging 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1291178732 19q13.42 19 55481203G> A null V M 3 3 missense 0.788 possibly damaging 0.12 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1360252808 19q13.42 19 55481206A> G null M V 4 4 missense 0.009 benign 0.05 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1277107322 19q13.42 19 55481210T> C null V A 5 5 missense 0.0 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1214364019 19q13.42 19 55481209G> A null V I 5 5 missense 0.035 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1323903141 19q13.42 19 55481212G> C null G R 6 6 missense 0.586 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1323903141 19q13.42 19 55481212G> A null G S 6 6 missense 0.928 probably damaging 0.05 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs868529400 19q13.42 19 55481213G> T null G V 6 6 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1224806996 19q13.42 19 55481216C> T null S F 7 7 missense 0.001 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs746892879 19q13.42 19 55481222C> G null A G 9 9 missense 0.007 benign 0.36 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs746892879 cosmic curated [Cosmic]: large_intestine cosmic_study:376 19q13.42 19 55481222C> T null A V 9 9 missense 0.0 benign 0.41 tolerated 1 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs776370591 19q13.42 19 55481226C> G null D E 10 10 missense 0.714 possibly damaging 0.4 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1050850560 19q13.42 19 55481224G> T null D Y 10 10 missense 0.975 probably damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1243786710 19q13.42 19 55481229G> A null M I 11 11 missense 0.075 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1484730365 19q13.42 19 55481230G> A null A T 12 12 missense 0.118 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs867015713 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55481231C> T null A V 12 12 missense 0.003 benign 0.32 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,TOPMed,gnomAD rs745632371 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55481234C> T null P L 13 13 missense 0.467 possibly damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs745632371 19q13.42 19 55481234C> G null P R 13 13 missense 0.718 possibly damaging 0.05 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1192752463 19q13.42 19 55481233C> T null P S 13 13 missense 0.281 benign 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1196833258 19q13.42 19 55481236G> T null A S 14 14 missense 0.022 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1174327035 19q13.42 19 55481240C> T null S F 15 15 missense 0.015 benign 0.23 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs770111395 19q13.42 19 55481246C> T null A V 17 17 missense 0.0 benign 0.17 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs775570789 19q13.42 19 55481248G> A null E K 18 18 missense 0.142 benign 0.04 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs775570789 19q13.42 19 55481248G> C null E Q 18 18 missense 0.023 benign 0.06 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs897928581 19q13.42 19 55481255C> T null A V 20 20 missense 0.037 benign 0.21 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1345729494 19q13.42 19 55481257G> A null G R 21 21 missense 0.468 possibly damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1366749567 19q13.42 19 55481273C> T null P L 26 26 missense 0.305 benign 0.01 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1366213002 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.42 19 55481276C> T null A V 27 27 missense 0.0 benign 0.46 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs763096386 19q13.42 19 55481285C> A null A D 30 30 missense 0.21 benign 0.01 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs763096386 19q13.42 19 55481285C> T null A V 30 30 missense 0.075 benign 0.02 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs751627766 19q13.42 19 55481288C> T null P L 31 31 missense 0.018 benign 0.02 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs775017121 19q13.42 19 55481291C> T null A V 32 32 missense 0.14 benign 0.22 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1042732256 19q13.42 19 55481294C> T null A V 33 33 missense 0.114 benign 0.02 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1179094559 19q13.42 19 55481306G> A null C Y 37 37 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1419678406 19q13.42 19 55481309G> A null G E 38 38 missense 0.636 possibly damaging 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1406411656 19q13.42 19 55481308G> A null G R 38 38 missense 0.743 possibly damaging 0.53 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1164577158 19q13.42 19 55481311G> A null E K 39 39 missense 0.339 benign 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1423139812 19q13.42 19 55481330G> A null R Q 45 45 missense 0.176 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP rs376806505 19q13.42 19 55481336C> G null S W 47 47 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1442280013 19q13.42 19 55481342G> A null R Q 49 49 missense 0.975 probably damaging 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1330216511 19q13.42 19 55481341C> T null R W 49 49 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs765009829 19q13.42 19 55481344C> T null L F 50 50 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs757941160 19q13.42 19 55481350C> T null H Y 52 52 missense 0.721 possibly damaging 0.35 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1219991664 19q13.42 19 55481359C> T null R C 55 55 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP rs151222239 19q13.42 19 55481363C> T null T M 56 56 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1231298187 19q13.42 19 55481376G> T null E D 60 60 missense 0.963 probably damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs867263070 19q13.42 19 55481386A> C null K Q 64 64 missense 0.47 possibly damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1314957947 19q13.42 19 55481387A> C null K T 64 64 missense 0.83 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200942784 19q13.42 19 55481392C> T null P S 66 66 missense 0.006 benign 0.63 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs769405814 19q13.42 19 55481406G> C null K N 70 70 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs745741845 19q13.42 19 55481405A> G null K R 70 70 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs775793095 19q13.42 19 55481414A> G null K R 73 73 missense 0.938 probably damaging 0.15 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs768808214 19q13.42 19 55481417G> C null G A 74 74 missense 0.942 probably damaging 0.14 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs768808214 19q13.42 19 55481417G> A null G D 74 74 missense 0.976 probably damaging 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs774610300 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55481423C> T null S L 76 76 missense 0.963 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs774610300 19q13.42 19 55481423C> G null S W 76 76 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1273558721 19q13.42 19 55481428C> G null L V 78 78 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1340288840 19q13.42 19 55481432T> G null L R 79 79 missense 0.022 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1216494792 19q13.42 19 55481434T> C null Y H 80 80 missense 0.974 probably damaging 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1407614273 19q13.42 19 55481443C> G null R G 83 83 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs768200443 19q13.42 19 55481446G> T null G C 84 84 missense 0.998 probably damaging 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1305034206 19q13.42 19 55481447G> A null G D 84 84 missense 0.996 probably damaging 0.15 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1204456562 19q13.42 19 55481453C> T null T M 86 86 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1373948089 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55481462G> T null R L 89 89 missense 0.778 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1476612327 19q13.42 19 55481464C> T null P S 90 90 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1383757428 19q13.42 19 55481468A> T null Y F 91 91 missense 0.956 probably damaging 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1451793357 19q13.42 19 55481471A> G null Q R 92 92 missense 0.009 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1421038882 19q13.42 19 55481475C> G null C W 93 93 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1464635634 19q13.42 19 55481476C> T null P S 94 94 missense 0.072 benign 0.74 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs867628256 19q13.42 19 55481479G> T null D Y 95 95 missense 0.846 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1408166315 19q13.42 19 55481486C> T null P L 97 97 missense 0.346 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs763707323 19q13.42 19 55481489A> G null K R 98 98 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs756754227 19q13.42 19 55481501G> T null R L 102 102 missense 0.965 probably damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1471765911 19q13.42 19 55481503T> C null S P 103 103 missense 0.411 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs781110442 19q13.42 19 55481509C> G null L V 105 105 missense 0.879 possibly damaging 0.22 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1265135923 19q13.42 19 55481515C> T null Q * 107 107 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1182272444 19q13.42 19 55481517G> C null Q H 107 107 missense 0.847 possibly damaging 0.55 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs755958239 19q13.42 19 55481521C> G null H D 109 109 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1263052799 19q13.42 19 55481525G> A null R H 110 110 missense 0.583 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1191558770 19q13.42 19 55481537C> T null T I 114 114 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1465237476 19q13.42 19 55481546G> A null R Q 117 117 missense 0.897 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs180681662 19q13.42 19 55481548G> C null A P 118 118 2.0E-4 missense 0.068 benign 0.57 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs180681662 19q13.42 19 55481548G> A null A T 118 118 2.0E-4 missense 0.069 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1464129761 19q13.42 19 55481549C> T null A V 118 118 missense 0.472 possibly damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1171860044 19q13.42 19 55481555T> C null I T 120 120 missense 0.0 benign 0.66 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1304621371 19q13.42 19 55481561G> A null G D 122 122 missense 0.167 benign 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1402233073 19q13.42 19 55481560G> A null G S 122 122 missense 0.09 benign 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs748308337 19q13.42 19 55481570G> A null G D 125 125 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1340099165 19q13.42 19 55481569G> C null G R 125 125 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1340099165 19q13.42 19 55481569G> A null G S 125 125 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1329349097 19q13.42 19 55481576C> T null A V 127 127 missense 0.23 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC rs773872450 19q13.42 19 55481593C> A null H N 133 133 missense 0.931 probably damaging 0.14 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1261811659 19q13.42 19 55481595C> G null H Q 133 133 missense 0.306 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1378941942 19q13.42 19 55481598C> G null Y * 134 134 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1203722127 19q13.42 19 55481597A> G null Y C 134 134 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs761039037 19q13.42 19 55481596T> C null Y H 134 134 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1285814078 19q13.42 19 55481601G> T null Q H 135 135 missense 0.971 probably damaging 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1313289089 19q13.42 19 55481605C> G null H D 137 137 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs771358229 19q13.42 19 55481612G> A null R K 139 139 missense 0.939 probably damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs771358229 19q13.42 19 55481612G> T null R M 139 139 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1430888987 19q13.42 19 55481617C> T null H Y 141 141 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,gnomAD rs759924406 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55481629C> T null R C 145 145 missense 0.037 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs919179552 19q13.42 19 55481633C> T null P L 146 146 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1425073576 19q13.42 19 55481639C> A null P Q 148 148 missense 0.127 benign 0.57 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs763801488 19q13.42 19 55481638C> A null P T 148 148 missense 0.22 benign 0.12 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1386278782 19q13.42 19 55481648A> G null D G 151 151 missense 0.152 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1307845559 19q13.42 19 55481652C> A null C * 152 152 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369974817 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55481654C> G null P R 153 153 missense 0.776 possibly damaging 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs761326135 19q13.42 19 55481656A> C null K Q 154 154 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,gnomAD rs766964946 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55481667G> T null K N 157 157 missense 0.858 possibly damaging 0.12 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs750402175 19q13.42 19 55481669A> G null N S 158 158 missense 0.84 possibly damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs750402175 19q13.42 19 55481669A> C null N T 158 158 missense 0.422 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs756042361 19q13.42 19 55481672C> T null S L 159 159 missense 0.579 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs780017308 19q13.42 19 55481684G> A null R Q 163 163 missense 0.963 probably damaging 0.23 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1176628335 19q13.42 19 55481686C> T null R C 164 164 missense 0.992 probably damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1445004685 19q13.42 19 55481692C> T null R C 166 166 missense 0.073 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1445004685 19q13.42 19 55481692C> G null R G 166 166 missense 0.697 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs867066950 19q13.42 19 55481695C> A null H N 167 167 missense 0.019 benign 0.4 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1228787840 19q13.42 19 55481697C> G null H Q 167 167 missense 0.887 possibly damaging 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs867523512 19q13.42 19 55481696A> G null H R 167 167 missense 0.634 possibly damaging 0.82 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs867066950 19q13.42 19 55481695C> T null H Y 167 167 missense 0.719 possibly damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs943155035 19q13.42 19 55481708G> A null G D 171 171 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1398674079 19q13.42 19 55481707G> A null G S 171 171 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1331191019 19q13.42 19 55481713C> T null R W 173 173 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs866462914 19q13.42 19 55481723C> T null T I 176 176 missense 0.037 benign 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1321522717 19q13.42 19 55481731G> A null V I 179 179 missense 0.007 benign 0.35 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1460532797 19q13.42 19 55481735G> A null C Y 180 180 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs777183893 19q13.42 19 55481741A> G null K R 182 182 missense 0.982 probably damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1237491354 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55481750C> T null T M 185 185 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1220385366 19q13.42 19 55481756G> A null S N 187 187 missense 0.526 possibly damaging 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs746234754 19q13.42 19 55481758A> G null T A 188 188 missense 0.269 benign 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs761413767 19q13.42 19 55481767C> G null R G 191 191 missense 0.965 probably damaging 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1170117576 19q13.42 19 55481770C> T null Q * 192 192 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1407453558 19q13.42 19 55481779C> T null R C 195 195 missense 0.911 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1455007058 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55481780G> A null R H 195 195 missense 0.911 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1383142412 19q13.42 19 55481783T> A null V E 196 196 missense 0.899 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs772642387 19q13.42 19 55481782G> A null V M 196 196 missense 0.906 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs760216769 19q13.42 19 55481789C> A null T K 198 198 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs760216769 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55481789C> T null T M 198 198 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs753745134 19q13.42 19 55481792G> A null G D 199 199 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1212098663 19q13.42 19 55481797C> T null R W 201 201 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1466648075 19q13.42 19 55481803T> A null F I 203 203 missense 0.634 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1235665654 19q13.42 19 55481806C> T null R C 204 204 missense 0.049 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1482771093 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55481807G> A null R H 204 204 missense 0.817 possibly damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1482771093 19q13.42 19 55481807G> T null R L 204 204 missense 0.186 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1189560661 19q13.42 19 55481813C> T null P L 206 206 missense 0.042 benign 0.19 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs143350202 19q13.42 19 55481815C> A null L I 207 207 0.001797 missense 0.003 benign 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1193250693 19q13.42 19 55481816T> C null L P 207 207 missense 0.372 benign 0.26 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1389269780 19q13.42 19 55481819G> A null C Y 208 208 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs781562148 19q13.42 19 55481822C> T null P L 209 209 missense 0.899 possibly damaging 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1186632529 19q13.42 19 55481821C> T null P S 209 209 missense 0.723 possibly damaging 0.55 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs746324800 19q13.42 19 55481828C> G null T S 211 211 missense 0.084 benign 0.22 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1454626447 19q13.42 19 55481830T> C null F L 212 212 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs775868409 19q13.42 19 55481834C> G null T S 213 213 missense 0.983 probably damaging 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs749626259 19q13.42 19 55481840C> T null S F 215 215 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1469419159 19q13.42 19 55481843C> G null S C 216 216 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1220463443 19q13.42 19 55481852T> C null L P 219 219 missense 0.808 possibly damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs760111337 19q13.42 19 55481858A> C null H P 221 221 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1216085244 19q13.42 19 55481861A> T null Q L 222 222 missense 0.035 benign 0.05 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1479041912 19q13.42 19 55481863C> T null R C 223 223 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs373480260 19q13.42 19 55481864G> A null R H 223 223 missense 0.232 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs776459537 19q13.42 19 55481867C> T null T M 224 224 missense 0.901 possibly damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs752589123 19q13.42 19 55481873G> A null G D 226 226 missense 0.824 possibly damaging 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs765237123 19q13.42 19 55481872G> A null G S 226 226 missense 0.151 benign 0.3 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1272609042 19q13.42 19 55481876C> T null A V 227 227 missense 0.0 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs758256963 19q13.42 19 55481879C> A null A D 228 228 missense 0.856 possibly damaging 0.22 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1224237801 19q13.42 19 55481878G> T null A S 228 228 missense 0.701 possibly damaging 0.39 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1224237801 19q13.42 19 55481878G> A null A T 228 228 missense 0.1 benign 0.44 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs758256963 19q13.42 19 55481879C> T null A V 228 228 missense 0.053 benign 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs893734852 19q13.42 19 55481882C> A null P H 229 229 missense 0.753 possibly damaging 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs893734852 19q13.42 19 55481882C> T null P L 229 229 missense 0.189 benign 0.3 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs751746228 19q13.42 19 55481881C> T null P S 229 229 missense 0.098 benign 0.7 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1219437670 19q13.42 19 55481884G> T null A S 230 230 missense 0.028 benign 0.51 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs757305404 19q13.42 19 55481885C> T null A V 230 230 missense 0.242 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1180978848 19q13.42 19 55481888C> A null P Q 231 231 missense 0.742 possibly damaging 0.53 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1386255838 19q13.42 19 55481890G> A null G S 232 232 missense 0.0 benign 0.89 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs34864744 19q13.42 19 55481893A> G null T A 233 233 0.2382 missense 0.0 benign 0.93 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed rs745916455 19q13.42 19 55481894C> T null T I 233 233 missense 0.035 benign 0.27 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed rs745916455 19q13.42 19 55481894C> A null T N 233 233 missense 0.063 benign 0.51 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs34864744 19q13.42 19 55481893A> C null T P 233 233 0.2382 missense 0.0 benign 0.4 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1414027736 19q13.42 19 55481896G> A null A T 234 234 missense 0.003 benign 0.58 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs780521871 19q13.42 19 55481897C> T null A V 234 234 missense 0.118 benign 0.35 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1020672902 19q13.42 19 55481900C> G null S C 235 235 missense 0.007 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs111488188 19q13.42 19 55481903C> A null A E 236 236 missense 0.007 benign 0.23 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs111488188 19q13.42 19 55481903C> G null A G 236 236 missense 0.0 benign 0.91 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs768996185 19q13.42 19 55481902G> T null A S 236 236 missense 0.005 benign 0.39 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs111488188 19q13.42 19 55481903C> T null A V 236 236 missense 0.018 benign 0.23 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1315531211 19q13.42 19 55481906C> A null A D 237 237 missense 0.015 benign 0.55 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1239124385 19q13.42 19 55481905G> A null A T 237 237 missense 0.0 benign 0.5 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1315531211 19q13.42 19 55481906C> T null A V 237 237 missense 0.003 benign 0.27 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,TOPMed,gnomAD rs770382838 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.42 19 55481909C> T null P L 238 238 missense 0.0 benign 0.17 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs746626689 19q13.42 19 55481908C> T null P S 238 238 missense 0.06 benign 0.41 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs776321927 19q13.42 19 55481911C> A null P T 239 239 missense 0.083 benign 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs759095500 19q13.42 19 55481915C> A null P H 240 240 missense 0.823 possibly damaging 0.47 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs759095500 19q13.42 19 55481915C> T null P L 240 240 missense 0.201 benign 0.44 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs759095500 19q13.42 19 55481915C> G null P R 240 240 missense 0.608 possibly damaging 0.24 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1236874475 19q13.42 19 55481917C> A null Q K 241 241 missense 0.034 benign 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1184564455 19q13.42 19 55481921C> G null S C 242 242 missense 0.041 benign 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs769912395 19q13.42 19 55481920T> A null S T 242 242 missense 0.0 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1184564455 19q13.42 19 55481921C> A null S Y 242 242 missense 0.027 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1472018274 19q13.42 19 55481927A> G null E G 244 244 missense 0.006 benign 0.31 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1161041132 19q13.42 19 55481929C> G null P A 245 245 missense 0.0 benign 0.25 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1350091288 19q13.42 19 55481930C> T null P L 245 245 missense 0.0 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1465687002 19q13.42 19 55481933G> A null G D 246 246 missense 0.104 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1172242259 19q13.42 19 55481935A> G null K E 247 247 missense 0.01 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1445894733 19q13.42 19 55481937G> C null K N 247 247 missense 0.083 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs762667683 19q13.42 19 55481936A> G null K R 247 247 missense 0.06 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs12972780 19q13.42 19 55481943C> A null F L 249 249 missense 0.0 benign 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1341970915 19q13.42 19 55481944G> C null V L 250 250 missense 0.001 benign 0.37 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1302214644 19q13.42 19 55481947T> C null C R 251 251 missense 0.0 benign 0.38 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs763898161 19q13.42 19 55481950G> C null D H 252 252 missense 0.473 possibly damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs763898161 19q13.42 19 55481950G> A null D N 252 252 missense 0.003 benign 0.23 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1283804611 19q13.42 19 55481953G> A null A T 253 253 missense 0.003 benign 0.26 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1362995292 19q13.42 19 55481956T> G null Y D 254 254 missense 0.282 benign 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1472091136 19q13.42 19 55481959C> A null L M 255 255 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1158367201 19q13.42 19 55481965C> G null R G 257 257 missense 0.031 benign 0.31 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs868787314 19q13.42 19 55481966G> T null R L 257 257 missense 0.005 benign 0.45 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs868787314 19q13.42 19 55481966G> A null R Q 257 257 missense 0.003 benign 0.77 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC rs751759484 19q13.42 19 55481969A> G null H R 258 258 missense 0.003 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1204796878 19q13.42 19 55481971C> T null L F 259 259 missense 0.221 benign 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1281368755 19q13.42 19 55481972T> C null L P 259 259 missense 0.221 benign 0.14 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1441039478 19q13.42 19 55481974C> A null Q K 260 260 missense 0.015 benign 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs536793652 19q13.42 19 55481980C> A null H N 262 262 0.005192 missense 0.023 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1236504295 19q13.42 19 55481983A> G null S G 263 263 missense 0.0 benign 0.05 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1477972761 19q13.42 19 55481986C> T null P S 264 264 missense 0.058 benign 0.73 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1477972761 19q13.42 19 55481986C> A null P T 264 264 missense 0.009 benign 0.55 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1460328518 19q13.42 19 55481989C> G null P A 265 265 missense 0.14 benign 0.39 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs949478123 19q13.42 19 55481992G> C null A P 266 266 missense 0.307 benign 0.33 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs949478123 19q13.42 19 55481992G> A null A T 266 266 missense 0.0 benign 0.36 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs982194756 19q13.42 19 55481995C> A null P T 267 267 missense 0.991 probably damaging 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1404339273 19q13.42 19 55481998C> G null P A 268 268 missense 0.288 benign 0.54 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1404339273 19q13.42 19 55481998C> T null P S 268 268 missense 0.382 benign 0.4 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1412537859 19q13.42 19 55482001G> T null A S 269 269 missense 0.684 possibly damaging 0.68 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs926712381 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.42 19 55482005C> T null P L 270 270 missense 0.001 benign 0.72 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs926712381 19q13.42 19 55482005C> G null P R 270 270 missense 0.556 possibly damaging 0.48 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1341334821 19q13.42 19 55482004C> T null P S 270 270 missense 0.017 benign 0.62 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1276551746 19q13.42 19 55482008C> T null P L 271 271 missense 0.0 benign 0.31 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs767608361 19q13.42 19 55482014C> G null P R 273 273 missense 0.001 benign 0.54 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1382084420 19q13.42 19 55482017C> T null P L 274 274 missense 0.018 benign 0.38 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs937825047 19q13.42 19 55482022C> G null P A 276 276 missense 0.111 benign 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1285335206 19q13.42 19 55482023C> T null P L 276 276 missense 0.003 benign 0.28 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1183355326 19q13.42 19 55482026T> C null V A 277 277 missense 0.607 possibly damaging 0.35 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1369427456 19q13.42 19 55482025G> C null V L 277 277 missense 0.476 possibly damaging 0.57 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1218256254 19q13.42 19 55482029T> C null V A 278 278 missense 0.681 possibly damaging 0.8 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs756178509 19q13.42 19 55482036G> T null E D 280 280 missense 0.402 benign 0.19 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1053620145 19q13.42 19 55482037C> T null L F 281 281 missense 0.005 benign 0.31 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1379262433 19q13.42 19 55482038T> C null L P 281 281 missense 0.571 possibly damaging 0.17 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1042062991 19q13.42 19 55482056A> C null E A 287 287 missense 0.48 possibly damaging 0.64 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1360210195 19q13.42 19 55482059C> T null T I 288 288 missense 0.986 probably damaging 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs147110934 19q13.42 19 55482069G> T null E D 291 291 0.005591 missense 0.075 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs998280194 19q13.42 19 55482079C> T null R C 295 295 missense 0.858 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1028045866 19q13.42 19 55482080G> A null R H 295 295 missense 0.818 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1434232296 19q13.42 19 55482086A> G null D G 297 297 missense 0.402 benign 0.78 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1356225817 19q13.42 19 55482085G> A null D N 297 297 missense 0.341 benign 0.66 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs755324330 19q13.42 19 55482089G> A null G D 298 298 missense 0.996 probably damaging 0.66 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1238500282 19q13.42 19 55482088G> A null G S 298 298 missense 0.994 probably damaging 0.63 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1487778590 19q13.42 19 55482093C> G null C W 299 299 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1268778215 19q13.42 19 55482098A> G null Q R 301 301 missense 0.3 benign 0.62 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1198015584 19q13.42 19 55482105C> A null F L 303 303 missense 0.916 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1380907348 19q13.42 19 55482112G> A null E K 306 306 missense 0.009 benign 0.15 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1441315314 19q13.42 19 55482113A> T null E V 306 306 missense 0.242 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1324888478 19q13.42 19 55482121C> T null L F 309 309 missense 0.133 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1458560651 19q13.42 19 55482127G> C null E Q 311 311 missense 0.038 benign 0.68 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1295539461 19q13.42 19 55482134A> G null Q R 313 313 missense 0.007 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1388588115 19q13.42 19 55482139T> A null C S 315 315 missense 0.943 probably damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1163391130 19q13.42 19 55482142C> T null P S 316 316 missense 0.708 possibly damaging 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1392360742 19q13.42 19 55482148C> T null P S 318 318 missense 0.986 probably damaging 0.89 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1189808316 19q13.42 19 55482151G> A null D N 319 319 missense 0.129 benign 0.26 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1470590460 19q13.42 19 55482155C> G null A G 320 320 missense 0.451 possibly damaging 0.28 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1379847501 19q13.42 19 55482154G> A null A T 320 320 missense 0.327 benign 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1470590460 19q13.42 19 55482155C> T null A V 320 320 missense 0.014 benign 0.34 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1016420178 19q13.42 19 55482170A> C null Q P 325 325 missense 0.0 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1016420178 19q13.42 19 55482170A> G null Q R 325 325 missense 0.161 benign 0.32 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1266859704 19q13.42 19 55482179C> A null P H 328 328 missense 0.263 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs779300535 19q13.42 19 55482178C> T null P S 328 328 missense 0.001 benign 0.36 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs779300535 19q13.42 19 55482178C> A null P T 328 328 missense 0.003 benign 0.29 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1275003219 19q13.42 19 55482182C> A null A D 329 329 missense 0.013 benign 0.62 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1344087107 19q13.42 19 55482181G> A null A T 329 329 missense 0.007 benign 0.6 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1213935059 19q13.42 19 55482188C> T null A V 331 331 missense 0.026 benign 0.21 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1335032257 19q13.42 19 55482190C> T null P S 332 332 missense 0.448 possibly damaging 0.89 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1337357329 19q13.42 19 55482193A> G null K E 333 333 missense 0.017 benign 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1238684890 19q13.42 19 55482204G> C null Q H 336 336 missense 0.001 benign 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs972311065 19q13.42 19 55482209C> T null P L 338 338 missense 0.992 probably damaging 0.39 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1425509879 19q13.42 19 55482208C> T null P S 338 338 missense 0.986 probably damaging 0.99 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1176727102 19q13.42 19 55482214C> G null P A 340 340 missense 0.003 benign 0.99 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs748434614 19q13.42 19 55482215C> G null P R 340 340 missense 0.381 benign 0.67 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs970724088 19q13.42 19 55482217C> G null L V 341 341 missense 0.098 benign 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs770667016 19q13.42 19 55482224A> C null Q P 343 343 missense 0.226 benign 0.34 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1403052505 19q13.42 19 55482227C> A null P H 344 344 missense 0.937 probably damaging 0.83 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1403052505 19q13.42 19 55482227C> T null P L 344 344 missense 0.752 possibly damaging 0.8 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1331292405 19q13.42 19 55482230C> T null P L 345 345 missense 0.382 benign 0.34 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1464473804 19q13.42 19 55482229C> T null P S 345 345 missense 0.303 benign 0.76 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs745440003 19q13.42 19 55482245C> T null A V 350 350 missense 0.006 benign 0.32 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs769365016 19q13.42 19 55482247C> G null P A 351 351 missense 0.001 benign 0.63 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs534896073 19q13.42 19 55482248C> A null P H 351 351 0.002796 missense 0.481 possibly damaging 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs534896073 19q13.42 19 55482248C> G null P R 351 351 0.002796 missense 0.079 benign 0.35 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs762906660 19q13.42 19 55482251C> A null A E 352 352 missense 0.372 benign 0.87 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs762906660 19q13.42 19 55482251C> G null A G 352 352 missense 0.167 benign 0.36 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs762906660 19q13.42 19 55482251C> T null A V 352 352 missense 0.253 benign 0.25 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs774251683 19q13.42 19 55482254C> T null P L 353 353 missense 0.006 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs774251683 19q13.42 19 55482254C> G null P R 353 353 missense 0.172 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs768446749 19q13.42 19 55482253C> A null P T 353 353 missense 0.01 benign 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1484128235 19q13.42 19 55482257G> A null G D 354 354 missense 0.001 benign 0.44 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs761495000 19q13.42 19 55482256G> C null G R 354 354 missense 0.051 benign 0.44 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs761495000 19q13.42 19 55482256G> A null G S 354 354 missense 0.001 benign 0.88 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1280775317 19q13.42 19 55482265T> A null C S 357 357 missense 0.792 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs945258010 19q13.42 19 55482268C> G null L V 358 358 missense 0.0 benign 0.29 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1280624477 19q13.42 19 55482272C> T null P L 359 359 missense 0.682 possibly damaging 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1423509991 19q13.42 19 55482271C> T null P S 359 359 missense 0.031 benign 0.36 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1425812590 19q13.42 19 55482276C> G null C W 360 360 missense 0.905 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1464134019 19q13.42 19 55482278G> A null G D 361 361 missense 0.996 probably damaging 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1360318911 19q13.42 19 55482280A> G null K E 362 362 missense 0.953 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1301512802 19q13.42 19 55482288C> A null F L 364 364 missense 0.916 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1467875525 19q13.42 19 55482286T> C null F L 364 364 missense 0.916 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1413746219 19q13.42 19 55482290G> A null R Q 365 365 missense 0.025 benign 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1401970817 19q13.42 19 55482289C> T null R W 365 365 missense 0.916 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1278447569 19q13.42 19 55482293C> T null T M 366 366 missense 0.994 probably damaging 0.12 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1341774550 19q13.42 19 55482302G> A null G E 369 369 missense 0.998 probably damaging 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1341774550 19q13.42 19 55482302G> T null G V 369 369 missense 0.998 probably damaging 0.15 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs760754097 19q13.42 19 55482304C> T null L F 370 370 missense 0.986 probably damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs865827109 19q13.42 19 55482308C> A null S Y 371 371 missense 0.983 probably damaging 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1211947683 19q13.42 19 55482311G> A null R H 372 372 missense 0.984 probably damaging 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1211947683 19q13.42 19 55482311G> C null R P 372 372 missense 0.986 probably damaging 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1253971742 19q13.42 19 55482313C> T null H Y 373 373 missense 0.721 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs933639384 19q13.42 19 55482321C> G null H Q 375 375 missense 0.944 probably damaging 0.21 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs866726374 19q13.42 19 55482324C> A null S R 376 376 missense 0.975 probably damaging 0.27 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1217532964 19q13.42 19 55482325C> T null H Y 377 377 missense 0.888 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1265625355 19q13.42 19 55482328G> A null G R 378 378 missense 0.023 benign 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1265625355 19q13.42 19 55482328G> C null G R 378 378 missense 0.023 benign 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1265625355 19q13.42 19 55482328G> T null G W 378 378 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,TOPMed,gnomAD rs558098589 19q13.42 19 55482334G> A null A T 380 380 2.0E-4 missense 0.981 probably damaging 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1186048097 19q13.42 19 55482335C> T null A V 380 380 missense 0.971 probably damaging 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1435379240 19q13.42 19 55482338G> C null G A 381 381 missense 0.186 benign 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1260770182 19q13.42 19 55482337G> C null G R 381 381 missense 0.053 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1435379240 19q13.42 19 55482338G> T null G V 381 381 missense 0.608 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs766400180 19q13.42 19 55482340G> A null G R 382 382 missense 0.153 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1377359777 19q13.42 19 55482343C> G null Q E 383 383 missense 0.073 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1420709397 19q13.42 19 55482347C> T null A V 384 384 missense 0.171 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs899314399 19q13.42 19 55482352C> T null R C 386 386 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1484176951 19q13.42 19 55482358G> C null G R 388 388 missense 0.705 possibly damaging 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1484176951 19q13.42 19 55482358G> A null G S 388 388 missense 0.903 possibly damaging 0.78 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs993639029 19q13.42 19 55482362G> A null S N 389 389 missense 0.015 benign 0.47 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1184188183 19q13.42 19 55482365G> A null C Y 390 390 missense 0.899 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs971387895 19q13.42 19 55482369C> G null D E 391 391 missense 0.083 benign 0.87 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1287832211 19q13.42 19 55482367G> C null D H 391 391 missense 0.913 probably damaging 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1287832211 19q13.42 19 55482367G> A null D N 391 391 missense 0.55 possibly damaging 0.45 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs754336293 19q13.42 19 55482371G> C null G A 392 392 missense 0.003 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs754336293 19q13.42 19 55482371G> T null G V 392 392 missense 0.059 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1399105604 19q13.42 19 55482374C> T null S F 393 393 missense 0.082 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1299105429 19q13.42 19 55482380C> A null P Q 395 395 missense 0.513 possibly damaging 0.56 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1182217822 19q13.42 19 55482383A> C null Q P 396 396 missense 0.548 possibly damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs989588139 19q13.42 19 55482389C> T null A V 398 398 missense 0.556 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1240671082 19q13.42 19 55482392G> A null S N 399 399 missense 0.028 benign 0.47 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1170259754 19q13.42 19 55482393C> A null S R 399 399 missense 0.654 possibly damaging 0.21 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1259586526 19q13.42 19 55482394C> T null L F 400 400 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1487461343 19q13.42 19 55482401C> A null A E 402 402 missense 0.14 benign 0.81 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1487461343 19q13.42 19 55482401C> T null A V 402 402 missense 0.009 benign 0.49 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1247325489 19q13.42 19 55482406C> A null Q K 404 404 missense 0.348 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1489509273 19q13.42 19 55482411G> T null Q H 405 405 missense 0.366 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1409036906 19q13.42 19 55482410A> G null Q R 405 405 missense 0.001 benign 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1189928142 19q13.42 19 55482413G> A null C Y 406 406 missense 0.125 benign 0.94 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1160863121 19q13.42 19 55482416A> T null H L 407 407 missense 0.531 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1440693057 19q13.42 19 55482415C> A null H N 407 407 missense 0.881 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1323134866 19q13.42 19 55482417C> A null H Q 407 407 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755553216 19q13.42 19 55482418G> A null V M 408 408 missense 0.015 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs7254184 19q13.42 19 55482423A> T null E D 409 409 0.3988 missense 0.031 benign 0.45 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs563338899 19q13.42 19 55482427G> A null A T 411 411 3.99E-4 missense 0.82 possibly damaging 0.31 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1438000150 19q13.42 19 55482428C> T null A V 411 411 missense 0.103 benign 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs933933321 19q13.42 19 55482431C> A null A E 412 412 missense 0.161 benign 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs933933321 19q13.42 19 55482431C> G null A G 412 412 missense 0.027 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs758686985 19q13.42 19 55482430G> A null A T 412 412 missense 0.792 possibly damaging 0.36 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs933933321 19q13.42 19 55482431C> T null A V 412 412 missense 0.792 possibly damaging 0.38 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1223366259 19q13.42 19 55482434C> A null A D 413 413 missense 0.998 probably damaging 0.17 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1351278825 19q13.42 19 55482433G> A null A T 413 413 missense 0.996 probably damaging 0.32 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1223366259 19q13.42 19 55482434C> T null A V 413 413 missense 0.994 probably damaging 0.41 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1290877894 19q13.42 19 55482436G> A null G R 414 414 missense 0.95 probably damaging 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs780998618 19q13.42 19 55482439C> T null R C 415 415 missense 0.96 probably damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1219556794 19q13.42 19 55482440G> A null R H 415 415 missense 0.96 probably damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs780998618 19q13.42 19 55482439C> A null R S 415 415 missense 0.91 probably damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1351828800 19q13.42 19 55482443C> T null P L 416 416 missense 0.061 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1252884771 19q13.42 19 55482442C> T null P S 416 416 missense 0.148 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1236688917 19q13.42 19 55482446C> A null P H 417 417 missense 0.726 possibly damaging 0.53 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1181075054 19q13.42 19 55482445C> T null P S 417 417 missense 0.349 benign 0.4 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1176207633 19q13.42 19 55482449C> T null P L 418 418 missense 0.312 benign 0.59 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1176207633 19q13.42 19 55482449C> G null P R 418 418 missense 0.943 probably damaging 0.54 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1469948492 19q13.42 19 55482448C> A null P T 418 418 missense 0.634 possibly damaging 0.72 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1406594940 19q13.42 19 55482454G> A null A T 420 420 missense 0.134 benign 0.54 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1162235404 19q13.42 19 55482457G> A null E K 421 421 missense 0.202 benign 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs941046659 19q13.42 19 55482466G> A null E K 424 424 missense 0.021 benign 0.49 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1333293594 19q13.42 19 55482469G> T null V L 425 425 missense 0.14 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1340269739 19q13.42 19 55482473C> T null T I 426 426 missense 0.316 benign 0.3 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1246905527 19q13.42 19 55482476G> A null C Y 427 427 missense 0.918 probably damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1441288637 19q13.42 19 55482479C> G null P R 428 428 missense 0.976 probably damaging 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1374312777 19q13.42 19 55482478C> T null P S 428 428 missense 0.539 possibly damaging 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1381668066 19q13.42 19 55482481C> G null Q E 429 429 missense 0.627 possibly damaging 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755715368 19q13.42 19 55482488C> T null P L 431 431 missense 0.009 benign 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755715368 19q13.42 19 55482488C> A null P Q 431 431 missense 0.519 possibly damaging 0.17 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1226655114 19q13.42 19 55482487C> T null P S 431 431 missense 0.009 benign 0.41 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1231271590 19q13.42 19 55482490C> A null L M 432 432 missense 0.283 benign 0.21 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1308585463 19q13.42 19 55482491T> A null L Q 432 432 missense 0.015 benign 0.43 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs748724985 19q13.42 19 55482493G> A null A T 433 433 missense 0.04 benign 0.19 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1256732031 19q13.42 19 55482494C> T null A V 433 433 missense 0.0 benign 0.25 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs993586545 19q13.42 19 55482497C> T null P L 434 434 missense 0.637 possibly damaging 0.35 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs747976037 19q13.42 19 55482500C> A null A D 435 435 missense 0.161 benign 0.62 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs768693530 19q13.42 19 55482499G> T null A S 435 435 missense 0.037 benign 0.77 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs768693530 19q13.42 19 55482499G> A null A T 435 435 missense 0.001 benign 0.66 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs747976037 19q13.42 19 55482500C> T null A V 435 435 missense 0.001 benign 0.34 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs766560440 19q13.42 19 55482503C> A null A D 436 436 missense 0.503 possibly damaging 0.61 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1555761284 19q13.42 19 55482502G> T null A S 436 436 missense 0.167 benign 0.76 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs776825766 19q13.42 19 55482505C> G null P A 437 437 missense 0.023 benign 0.9 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC rs765840250 19q13.42 19 55482506C> A null P H 437 437 missense 0.823 possibly damaging 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs776825766 19q13.42 19 55482505C> T null P S 437 437 missense 0.023 benign 0.87 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs776825766 19q13.42 19 55482505C> A null P T 437 437 missense 0.142 benign 0.5 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs10423355 19q13.42 19 55482509T> C null V A 438 438 0.2548 missense 0.0 benign 0.83 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1334625595 19q13.42 19 55482508G> A null V I 438 438 missense 0.003 benign 0.33 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1341147671 19q13.42 19 55482512C> T null P L 439 439 missense 0.001 benign 0.17 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1341147671 19q13.42 19 55482512C> A null P Q 439 439 missense 0.422 benign 0.27 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1292906498 19q13.42 19 55482511C> T null P S 439 439 missense 0.006 benign 0.57 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1292906498 19q13.42 19 55482511C> A null P T 439 439 missense 0.04 benign 0.43 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1339349789 19q13.42 19 55482515C> A null P Q 440 440 missense 0.997 probably damaging 0.32 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1339349789 19q13.42 19 55482515C> G null P R 440 440 missense 0.997 probably damaging 0.36 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1276851314 19q13.42 19 55482514C> T null P S 440 440 missense 0.986 probably damaging 0.41 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1276851314 19q13.42 19 55482514C> A null P T 440 440 missense 0.991 probably damaging 0.41 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1441054657 19q13.42 19 55482518C> T null P L 441 441 missense 0.382 benign 0.41 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1281121554 19q13.42 19 55482517C> T null P S 441 441 missense 0.303 benign 0.37 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1281121554 19q13.42 19 55482517C> A null P T 441 441 missense 0.457 possibly damaging 0.29 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1208213684 19q13.42 19 55482520C> G null P A 442 442 missense 0.013 benign 0.77 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1256443427 19q13.42 19 55482521C> T null P L 442 442 missense 0.003 benign 0.42 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1371243038 19q13.42 19 55482524C> T null P L 443 443 missense 0.005 benign 0.82 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755879471 19q13.42 19 55482523C> T null P S 443 443 missense 0.098 benign 0.74 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755879471 19q13.42 19 55482523C> A null P T 443 443 missense 0.173 benign 0.72 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs779839297 19q13.42 19 55482526T> A null S T 444 444 missense 0.122 benign 0.4 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,gnomAD rs559677177 19q13.42 19 55482530C> A null A D 445 445 2.0E-4 missense 0.242 benign 0.52 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs200132966 19q13.42 19 55482529G> C null A P 445 445 missense 0.009 benign 0.39 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs200132966 19q13.42 19 55482529G> A null A T 445 445 missense 0.015 benign 0.59 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,gnomAD rs559677177 19q13.42 19 55482530C> T null A V 445 445 2.0E-4 missense 0.015 benign 0.36 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs778921191 19q13.42 19 55482532C> G null P A 446 446 missense 0.023 benign 0.56 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs747984863 19q13.42 19 55482533C> T null P L 446 446 missense 0.142 benign 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs747984863 19q13.42 19 55482533C> G null P R 446 446 missense 0.608 possibly damaging 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs773033434 19q13.42 19 55482535G> A null A T 447 447 missense 0.103 benign 0.38 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1277134606 19q13.42 19 55482538T> G null S A 448 448 missense 0.005 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs959337051 19q13.42 19 55482539C> T null S F 448 448 missense 0.402 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1277134606 19q13.42 19 55482538T> A null S T 448 448 missense 0.01 benign 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs959337051 19q13.42 19 55482539C> A null S Y 448 448 missense 0.498 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1234109373 19q13.42 19 55482542C> T null A V 449 449 missense 0.003 benign 0.21 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs771205624 19q13.42 19 55482545A> C null E A 450 450 missense 0.71 possibly damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs201227355 19q13.42 19 55482548G> T null R L 451 451 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1262618004 19q13.42 19 55482551C> T null P L 452 452 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs925666316 19q13.42 19 55482550C> T null P S 452 452 missense 0.842 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs925666316 19q13.42 19 55482550C> A null P T 452 452 missense 0.88 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1175069061 19q13.42 19 55482558A> C null K N 454 454 missense 0.899 possibly damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs868164487 19q13.42 19 55482556A> C null K Q 454 454 missense 0.282 benign 0.27 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1248443575 19q13.42 19 55482563C> G null A G 456 456 missense 0.001 benign 0.5 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs56082710 19q13.42 19 55482562G> A null A T 456 456 missense 0.005 benign 0.87 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1321290633 19q13.42 19 55482566A> C null E A 457 457 missense 0.98 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1172822139 19q13.42 19 55482565G> A null E K 457 457 missense 0.973 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1381124677 19q13.42 19 55482568T> G null C G 458 458 missense 0.957 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1421713235 19q13.42 19 55482569G> A null C Y 458 458 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs752028788 19q13.42 19 55482571G> T null G C 459 459 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs752028788 19q13.42 19 55482571G> C null G R 459 459 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs757687047 19q13.42 19 55482572G> T null G V 459 459 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs147530525 19q13.42 19 55482577T> G null S A 461 461 missense 0.0 benign 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1356327867 19q13.42 19 55482581T> C null F S 462 462 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1568467904 19q13.42 19 55482584A> G null K R 463 463 missense 0.522 possibly damaging 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1203083869 19q13.42 19 55482587G> C null G A 464 464 missense 0.805 possibly damaging 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs777678595 19q13.42 19 55482593C> T null S F 466 466 missense 0.991 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1467119430 19q13.42 19 55482595G> A null G R 467 467 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs868259409 19q13.42 19 55482596G> T null G V 467 467 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1238490386 19q13.42 19 55482602G> A null R H 469 469 missense 0.871 possibly damaging 0.27 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs865926502 19q13.42 19 55482604T> C null Y H 470 470 missense 0.991 probably damaging 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs746030815 19q13.42 19 55482614G> A null R Q 473 473 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs770025307 19q13.42 19 55482616G> C null D H 474 474 missense 0.988 probably damaging 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs770025307 19q13.42 19 55482616G> A null D N 474 474 missense 0.976 probably damaging 0.34 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs775480714 19q13.42 19 55482620A> G null H R 475 475 missense 0.83 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs769353085 19q13.42 19 55482631C> T null R W 479 479 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1426539266 19q13.42 19 55482638A> T null Y F 481 481 missense 0.979 probably damaging 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1198116958 19q13.42 19 55482637_55482638insTCCGCT G null Y F 481 481 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1426539266 19q13.42 19 55482638A> C null Y S 481 481 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1386139591 19q13.42 19 55482642G> C null Q H 482 482 missense 0.562 possibly damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1160737078 19q13.42 19 55482641A> G null Q R 482 482 missense 0.003 benign 0.26 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1461341101 19q13.42 19 55482646G> T null G C 484 484 missense 0.971 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1390140989 19q13.42 19 55482647G> T null G V 484 484 missense 0.891 possibly damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs767722816 19q13.42 19 55482650A> G null E G 485 485 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs762278246 19q13.42 19 55482649G> A null E K 485 485 missense 0.962 probably damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1244853787 19q13.42 19 55482655G> A null G S 487 487 missense 0.984 probably damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs753556055 19q13.42 19 55482662C> T null A V 489 489 missense 0.743 possibly damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,TOPMed,gnomAD rs375962619 19q13.42 19 55482677C> T null S F 494 494 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1447022890 19q13.42 19 55482683T> A null L Q 496 496 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1244269009 19q13.42 19 55482686C> T null A V 497 497 missense 0.529 possibly damaging 0.29 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs757903189 19q13.42 19 55482689T> A null I N 498 498 missense 0.961 probably damaging 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1250058138 19q13.42 19 55482688A> G null I V 498 498 missense 0.825 possibly damaging 0.19 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,gnomAD rs777692931 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55482698G> A null R Q 501 501 missense 0.136 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs757098909 19q13.42 19 55482700G> A null V M 502 502 missense 0.987 probably damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,gnomAD rs780886909 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55482707C> T null T M 504 504 missense 0.923 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs906024848 19q13.42 19 55482710G> A null G D 505 505 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1298011888 19q13.42 19 55482716G> A null R Q 507 507 missense 0.713 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1396184353 19q13.42 19 55482719C> T null A V 508 508 missense 0.96 probably damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1232222029 19q13.42 19 55482725C> T null T I 510 510 missense 0.025 benign 0.12 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1278734731 19q13.42 19 55482731G> C null G A 512 512 missense 0.0 benign 0.75 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1278734731 19q13.42 19 55482731G> T null G V 512 512 missense 0.06 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs780314903 19q13.42 19 55482742C> G null L V 516 516 missense 0.96 probably damaging 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1225185368 19q13.42 19 55482745A> G null T A 517 517 missense 0.412 benign 0.44 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1225185368 19q13.42 19 55482745A> C null T P 517 517 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1350215963 19q13.42 19 55482749T> G null F C 518 518 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1250514462 19q13.42 19 55482757T> C null S P 521 521 missense 0.207 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs749382756 19q13.42 19 55482764A> C null H P 523 523 missense 0.957 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs768797163 19q13.42 19 55482766T> C null Y H 524 524 missense 0.931 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1426382104 19q13.42 19 55482778C> A null L M 528 528 missense 0.996 probably damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1467955381 19q13.42 19 55482791C> A null S Y 532 532 missense 0.471 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1373282294 19q13.42 19 55482796G> A null E K 534 534 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs973712799 19q13.42 19 55482800G> A null R Q 535 535 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs867812303 19q13.42 19 55482802_55482803delinsT T null P F 536 536 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs918332242 19q13.42 19 55482802C> T null P S 536 536 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP rs143798056 19q13.42 19 55482806A> G null Y C 537 537 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1294786146 19q13.42 19 55482814G> A null G R 540 540 missense 0.232 benign 0.52 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs372959006 19q13.42 19 55482821G> A null C Y 542 542 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1236299871 19q13.42 19 55482827A> T null K M 544 544 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs752284067 19q13.42 19 55482829G> A null A T 545 545 missense 0.722 possibly damaging 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1347492002 19q13.42 19 55482835C> T null R C 547 547 missense 0.968 probably damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1217648821 19q13.42 19 55482836G> A null R H 547 547 missense 0.912 probably damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs929748999 19q13.42 19 55482841A> G null T A 549 549 missense 0.946 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371424287 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55482842C> T null T M 549 549 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs757188932 19q13.42 19 55482845C> T null S L 550 550 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs757188932 19q13.42 19 55482845C> G null S W 550 550 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1172220930 19q13.42 19 55482848G> A null C Y 551 551 missense 0.961 probably damaging 0.27 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1193990058 19q13.42 19 55482854G> T null R L 553 553 missense 0.024 benign 0.27 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs376033958 19q13.42 19 55482856C> T null R C 554 554 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,TOPMed,gnomAD rs750249037 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55482857G> A null R H 554 554 missense 0.991 probably damaging 0.05 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1288209925 19q13.42 19 55482859C> T null H Y 555 555 missense 0.401 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755866837 19q13.42 19 55482862C> T null R C 556 556 missense 0.764 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1290676946 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55482863G> A null R H 556 556 missense 0.706 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755866837 19q13.42 19 55482862C> A null R S 556 556 missense 0.021 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1344209904 19q13.42 19 55482867C> G null H Q 557 557 missense 0.023 benign 0.67 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1243700548 19q13.42 19 55482865C> T null H Y 557 557 missense 0.548 possibly damaging 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,gnomAD rs780436601 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.42 19 55482868G> A null V M 558 558 missense 0.107 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1226033310 19q13.42 19 55482874A> G null T A 560 560 missense 0.009 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755138882 19q13.42 19 55482878G> T null G V 561 561 missense 0.884 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs954816539 19q13.42 19 55482880G> C null E Q 562 562 missense 0.657 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1315196796 19q13.42 19 55482885G> T null R S 563 563 missense 0.9 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1215205942 19q13.42 19 55482886C> A null P T 564 564 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1325154835 19q13.42 19 55482890A> G null H R 565 565 missense 0.299 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs868350072 19q13.42 19 55482889C> T null H Y 565 565 missense 0.003 benign 0.85 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1010875151 19q13.42 19 55482907G> C null G R 571 571 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1010875151 19q13.42 19 55482907G> A null G S 571 571 missense 0.423 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1440708934 19q13.42 19 55482908G> T null G V 571 571 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1475137015 19q13.42 19 55482914G> C null S T 573 573 missense 0.038 benign 0.4 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs866949540 19q13.42 19 55482919G> A null A T 575 575 missense 0.04 benign 0.88 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1157793058 19q13.42 19 55482920C> T null A V 575 575 missense 0.022 benign 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs902594112 19q13.42 19 55482931A> C null N H 579 579 missense 0.883 possibly damaging 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1267986672 19q13.42 19 55482932A> G null N S 579 579 missense 0.276 benign 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,gnomAD rs747339144 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55482938G> A null R Q 581 581 missense 0.625 possibly damaging 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1323810548 19q13.42 19 55482937C> T null R W 581 581 missense 0.977 probably damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,gnomAD rs375880107 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55482942G> T null Q H 582 582 missense 0.98 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,gnomAD rs370949939 19q13.42 19 55482940C> A null Q K 582 582 missense 0.422 benign 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1017430499 19q13.42 19 55482952G> A null V M 586 586 missense 0.165 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs763711566 19q13.42 19 55482958A> G null T A 588 588 missense 0.222 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs964516226 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.42 19 55482959C> T null T M 588 588 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1234231368 19q13.42 19 55482964G> A null E K 590 590 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs767356947 19q13.42 19 55482968G> C null R P 591 591 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs767356947 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55482968G> A null R Q 591 591 missense 0.983 probably damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs985318618 19q13.42 19 55482971C> T null P L 592 592 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1162698995 19q13.42 19 55482976C> T null R C 594 594 missense 0.764 possibly damaging 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139724904 19q13.42 19 55482977G> A null R H 594 594 7.99E-4 missense 0.706 possibly damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139724904 19q13.42 19 55482977G> T null R L 594 594 7.99E-4 missense 0.349 benign 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs149796895 19q13.42 19 55482983C> T null P L 596 596 missense 0.006 benign 0.25 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs149796895 19q13.42 19 55482983C> A null P Q 596 596 missense 0.312 benign 0.58 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1330584353 19q13.42 19 55482982C> T null P S 596 596 missense 0.003 benign 0.7 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP rs367866791 19q13.42 19 55482985C> G null L V 597 597 missense 0.448 possibly damaging 0.29 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs748244490 19q13.42 19 55482992C> T null P L 599 599 missense 0.005 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1303663183 19q13.42 19 55482991C> T null P S 599 599 missense 0.132 benign 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs758438294 19q13.42 19 55482995A> G null K R 600 600 missense 0.285 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1293177836 19q13.42 19 55482998C> T null T I 601 601 missense 0.813 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1293177836 19q13.42 19 55482998C> A null T N 601 601 missense 0.656 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1486349467 19q13.42 19 55483025T> C null L P 610 610 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1335142028 19q13.42 19 55483031A> C null Q P 612 612 missense 0.58 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1197480240 19q13.42 19 55483033C> T null R C 613 613 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs78991146 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483046C> T null A V 617 617 0.004992 missense 0.515 possibly damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs773983704 19q13.42 19 55483049A> T null E V 618 618 missense 0.508 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1409220765 19q13.42 19 55483055C> T null P L 620 620 missense 0.9 possibly damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs773054424 19q13.42 19 55483060A> G null T A 622 622 missense 0.0 benign 0.75 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs766395275 19q13.42 19 55483061C> T null T I 622 622 missense 0.033 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs773054424 19q13.42 19 55483060A> C null T P 622 622 missense 0.029 benign 0.15 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs766395275 19q13.42 19 55483061C> G null T S 622 622 missense 0.0 benign 0.33 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1341242876 19q13.42 19 55483064G> A null C Y 623 623 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1289229753 19q13.42 19 55483067C> T null P L 624 624 missense 0.47 possibly damaging 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs759401484 19q13.42 19 55483066C> T null P S 624 624 missense 0.013 benign 0.36 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs759401484 19q13.42 19 55483066C> A null P T 624 624 missense 0.007 benign 0.31 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs752906914 19q13.42 19 55483070T> C null I T 625 625 missense 0.025 benign 0.49 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs748897137 19q13.42 19 55483075G> C null G R 627 627 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs748897137 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483075G> A null G S 627 627 missense 0.094 benign 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs777873726 19q13.42 19 55483078C> T null R C 628 628 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs757813058 19q13.42 19 55483082G> A null G D 629 629 missense 0.037 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1195227496 19q13.42 19 55483081G> A null G S 629 629 missense 0.0 benign 0.39 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1194079684 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483087G> A null V I 631 631 missense 0.924 probably damaging 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs746232658 19q13.42 19 55483092G> A null M I 632 632 missense 0.852 possibly damaging 0.05 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs770081794 19q13.42 19 55483094C> T null A V 633 633 missense 0.553 possibly damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1385688113 19q13.42 19 55483096G> T null A S 634 634 missense 0.146 benign 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1385688113 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483096G> A null A T 634 634 missense 0.596 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1402609241 19q13.42 19 55483106A> C null Q P 637 637 missense 0.961 probably damaging 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1326407780 19q13.42 19 55483109G> A null R Q 638 638 missense 0.963 probably damaging 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP rs367631740 19q13.42 19 55483108C> T null R W 638 638 missense 0.529 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1369250872 19q13.42 19 55483114C> G null L V 640 640 missense 0.088 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1231554885 19q13.42 19 55483118G> A null R K 641 641 missense 0.74 possibly damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1350764758 19q13.42 19 55483121C> T null T M 642 642 missense 0.957 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs759417772 19q13.42 19 55483127C> A null A D 644 644 missense 0.071 benign 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs776644070 19q13.42 19 55483126G> C null A P 644 644 missense 0.001 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs776644070 19q13.42 19 55483126G> A null A T 644 644 missense 0.0 benign 0.79 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs759417772 19q13.42 19 55483127C> T null A V 644 644 missense 0.001 benign 0.19 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs765079958 19q13.42 19 55483129C> G null P A 645 645 missense 0.081 benign 0.25 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs752898034 19q13.42 19 55483130C> T null P L 645 645 missense 0.007 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs752898034 19q13.42 19 55483130C> G null P R 645 645 missense 0.365 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs751725945 19q13.42 19 55483133C> G null A G 646 646 missense 0.144 benign 0.24 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs764202274 19q13.42 19 55483132G> A null A T 646 646 missense 0.043 benign 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs371420206 19q13.42 19 55483137C> G null N K 647 647 missense 0.017 benign 0.69 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs371420206 19q13.42 19 55483137C> A null N K 647 647 missense 0.017 benign 0.69 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1328537372 19q13.42 19 55483139C> T null T M 648 648 missense 0.67 possibly damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1440722766 19q13.42 19 55483142C> T null P L 649 649 missense 0.025 benign 0.41 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs750876337 19q13.42 19 55483144C> G null P A 650 650 missense 0.0 benign 0.91 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1336030721 19q13.42 19 55483145C> G null P R 650 650 missense 0.001 benign 0.34 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs756501494 19q13.42 19 55483151C> T null T I 652 652 missense 0.335 benign 0.19 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs749592612 19q13.42 19 55483153A> G null T A 653 653 missense 0.001 benign 0.98 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs771813788 19q13.42 19 55483154C> G null T R 653 653 missense 0.267 benign 0.47 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs777289113 19q13.42 19 55483157C> A null A D 654 654 missense 0.003 benign 0.38 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1466966868 19q13.42 19 55483156G> A null A T 654 654 missense 0.003 benign 0.39 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs777289113 19q13.42 19 55483157C> T null A V 654 654 missense 0.082 benign 0.3 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs746523993 19q13.42 19 55483160C> T null P L 655 655 missense 0.0 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1439737957 19q13.42 19 55483159C> T null P S 655 655 missense 0.0 benign 0.37 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200785885 19q13.42 19 55483163C> T null A V 656 656 3.99E-4 missense 0.001 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs999543676 19q13.42 19 55483165G> A null A T 657 657 missense 0.0 benign 0.22 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs759511441 19q13.42 19 55483166C> T null A V 657 657 missense 0.0 benign 0.17 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs764379159 19q13.42 19 55483169G> C null G A 658 658 missense 0.001 benign 0.63 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs775406992 19q13.42 19 55483168G> C null G R 658 658 missense 0.263 benign 0.31 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs775406992 19q13.42 19 55483168G> A null G S 658 658 missense 0.003 benign 0.73 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1213163974 19q13.42 19 55483174C> T null Q * 660 660 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs767545312 19q13.42 19 55483177C> T null P S 661 661 missense 0.006 benign 0.19 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1294329939 19q13.42 19 55483183G> T null A S 663 663 missense 0.088 benign 0.47 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1247423729 19q13.42 19 55483184C> T null A V 663 663 missense 0.127 benign 0.27 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1349321009 19q13.42 19 55483187C> T null P L 664 664 missense 0.0 benign 0.21 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs750471793 19q13.42 19 55483198G> C null A P 668 668 missense 0.038 benign 0.09 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1295018622 19q13.42 19 55483199C> T null A V 668 668 missense 0.044 benign 0.23 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs756660858 19q13.42 19 55483201C> G null R G 669 669 missense 0.027 benign 0.04 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1017482348 19q13.42 19 55483202G> T null R L 669 669 missense 0.019 benign 0.05 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1017482348 19q13.42 19 55483202G> A null R Q 669 669 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs756660858 19q13.42 19 55483201C> T null R W 669 669 missense 0.237 benign 0.01 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs964570889 19q13.42 19 55483204G> C null A P 670 670 missense 0.681 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1250164359 19q13.42 19 55483207C> G null P A 671 671 missense 0.391 benign 0.21 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1486024296 19q13.42 19 55483208C> T null P L 671 671 missense 0.082 benign 0.06 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1250164359 19q13.42 19 55483207C> T null P S 671 671 missense 0.084 benign 0.18 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1303515313 19q13.42 19 55483213G> A null A T 673 673 missense 0.003 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1424011794 19q13.42 19 55483216A> G null T A 674 674 missense 0.0 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1475141827 19q13.42 19 55483219C> G null Q E 675 675 missense 0.08 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1460840233 19q13.42 19 55483229A> G null H R 678 678 missense 0.023 benign 0.14 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1369604665 19q13.42 19 55483238C> T null P L 681 681 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755232674 19q13.42 19 55483241A> C null H P 682 682 missense 0.125 benign 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1353028747 19q13.42 19 55483243C> T null L F 683 683 missense 0.743 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1353028747 19q13.42 19 55483243C> A null L I 683 683 missense 0.319 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1395329190 19q13.42 19 55483247A> G null Q R 684 684 missense 0.168 benign 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1309036811 19q13.42 19 55483250C> T null A V 685 685 missense 0.445 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1274168998 19q13.42 19 55483255C> G null L V 687 687 missense 0.766 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs867236606 19q13.42 19 55483259C> T null S F 688 688 missense 0.062 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1184422666 19q13.42 19 55483261C> T null L F 689 689 missense 0.038 benign 0.12 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1032790087 19q13.42 19 55483262T> A null L H 689 689 missense 0.895 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs956013312 19q13.42 19 55483264G> A null E K 690 690 missense 0.839 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1271588409 19q13.42 19 55483267G> A null V M 691 691 missense 0.115 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1213325092 19q13.42 19 55483270G> A null A T 692 692 missense 0.556 possibly damaging 0.1 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1568468530 19q13.42 19 55483271C> T null A V 692 692 missense 0.664 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs777495635 19q13.42 19 55483273G> T null G W 693 693 missense 0.963 probably damaging 0.03 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs988572983 19q13.42 19 55483277G> C null G A 694 694 missense 0.022 benign 0.06 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs746611968 19q13.42 19 55483276G> T null G C 694 694 missense 0.421 benign 0.01 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs746611968 19q13.42 19 55483276G> A null G S 694 694 missense 0.003 benign 0.21 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs756861789 19q13.42 19 55483280C> T null T M 695 695 missense 0.015 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1434880444 19q13.42 19 55483285C> T null Q * 697 697 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1175143857 19q13.42 19 55483286A> C null Q P 697 697 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1175143857 19q13.42 19 55483286A> G null Q R 697 697 missense 0.157 benign 0.04 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1465168676 19q13.42 19 55483289C> A null A D 698 698 missense 0.065 benign 0.01 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1465168676 19q13.42 19 55483289C> G null A G 698 698 missense 0.023 benign 0.06 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs780894245 19q13.42 19 55483292C> T null P L 699 699 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs780894245 19q13.42 19 55483292C> G null P R 699 699 missense 0.091 benign 0.01 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs949751649 19q13.42 19 55483291C> T null P S 699 699 missense 0.025 benign 0.03 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs958523259 19q13.42 19 55483300G> T null G W 702 702 missense 0.926 probably damaging 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs769831272 19q13.42 19 55483307C> G null A G 704 704 missense 0.001 benign 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs775220906 19q13.42 19 55483309G> T null A S 705 705 missense 0.272 benign 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1216639498 19q13.42 19 55483310C> T null A V 705 705 missense 0.285 benign 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1043971363 19q13.42 19 55483315A> G null N D 707 707 missense 0.109 benign 0.15 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1481236365 19q13.42 19 55483318T> C null S P 708 708 missense 0.006 benign 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs774583977 19q13.42 19 55483321C> A null Q K 709 709 missense 0.018 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC rs762061939 19q13.42 19 55483325C> A null T K 710 710 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs767704787 19q13.42 19 55483330C> T null L F 712 712 missense 0.864 possibly damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1392927724 19q13.42 19 55483334T> C null L P 713 713 missense 0.906 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1432073057 19q13.42 19 55483336G> T null V L 714 714 missense 0.039 benign 0.22 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1460588166 19q13.42 19 55483343C> G null T S 716 716 missense 0.159 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs754242363 19q13.42 19 55483345G> C null A P 717 717 missense 0.808 possibly damaging 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs754242363 19q13.42 19 55483345G> T null A S 717 717 missense 0.546 possibly damaging 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755392840 19q13.42 19 55483346C> T null A V 717 717 missense 0.042 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1394923869 19q13.42 19 55483348C> T null Q * 718 718 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs765658000 19q13.42 19 55483349A> G null Q R 718 718 missense 0.217 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1301484407 19q13.42 19 55483352G> A null G D 719 719 missense 0.855 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1051139986 19q13.42 19 55483354C> T null L F 720 720 missense 0.069 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1224564191 19q13.42 19 55483367C> T null P L 724 724 missense 0.013 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs753083843 19q13.42 19 55483374C> G null S R 726 726 missense 0.993 probably damaging 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs771919851 19q13.42 19 55483375G> A null V M 727 727 missense 0.987 probably damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs745440425 19q13.42 19 55483381C> T null P S 729 729 missense 0.001 benign 0.32 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755518951 19q13.42 19 55483385C> G null P R 730 730 missense 0.147 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1246517141 19q13.42 19 55483388C> T null T I 731 731 missense 0.007 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs375185481 19q13.42 19 55483387A> C null T P 731 731 missense 0.0 benign 0.34 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1487934217 19q13.42 19 55483390C> T null P S 732 732 missense 0.028 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs866380775 19q13.42 19 55483394C> T null P L 733 733 missense 0.167 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs866380775 19q13.42 19 55483394C> A null P Q 733 733 missense 0.626 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs866380775 19q13.42 19 55483394C> G null P R 733 733 missense 0.551 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1158327768 19q13.42 19 55483397C> T null P L 734 734 missense 0.003 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1158327768 19q13.42 19 55483397C> G null P R 734 734 missense 0.295 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1471355742 19q13.42 19 55483396C> T null P S 734 734 missense 0.058 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,gnomAD rs542323331 19q13.42 19 55483400C> A null P H 735 735 3.99E-4 missense 0.947 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,gnomAD rs542323331 19q13.42 19 55483400C> G null P R 735 735 3.99E-4 missense 0.931 probably damaging 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs768606030 19q13.42 19 55483403C> T null P L 736 736 missense 0.891 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs768606030 19q13.42 19 55483403C> G null P R 736 736 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,TOPMed,gnomAD rs747922811 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.42 19 55483405G> A null A T 737 737 missense 0.04 benign 0.05 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs772346352 19q13.42 19 55483409C> T null P L 738 738 missense 0.833 possibly damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,TOPMed,gnomAD rs372924328 19q13.42 19 55483416G> C null K N 740 740 missense 0.281 benign 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1294425461 19q13.42 19 55483417C> T null L F 741 741 missense 0.147 benign 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1232037190 19q13.42 19 55483422C> G null I M 742 742 missense 0.235 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed rs760824737 19q13.42 19 55483423C> A null L M 743 743 missense 0.158 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1289522001 19q13.42 19 55483424T> C null L P 743 743 missense 0.865 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199792105 19q13.42 19 55483429C> G null P A 745 745 0.001797 missense 0.103 benign 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199792105 19q13.42 19 55483429C> T null P S 745 745 0.001797 missense 0.632 possibly damaging 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs777227024 19q13.42 19 55483433C> T null S F 746 746 missense 0.01 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,TOPMed rs573054458 19q13.42 19 55483436C> T null S F 747 747 2.0E-4 missense 0.01 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs760005200 19q13.42 19 55483435T> C null S P 747 747 missense 0.0 benign 0.35 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs765821490 19q13.42 19 55483439G> A null S N 748 748 missense 0.007 benign 0.25 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1476124019 19q13.42 19 55483441G> A null A T 749 749 missense 0.003 benign 0.58 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs545205643 19q13.42 19 55483442C> T null A V 749 749 2.0E-4 missense 0.109 benign 0.68 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1412781985 19q13.42 19 55483445G> A null G E 750 750 missense 0.119 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs763408134 19q13.42 19 55483448C> G null A G 751 751 missense 0.0 benign 0.54 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115143283 19q13.42 19 55483456G> A null G S 754 754 0.07847 missense 0.003 benign 0.65 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1357448017 19q13.42 19 55483459C> T null R C 755 755 missense 0.0 benign 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs749992158 19q13.42 19 55483463C> G null A G 756 756 missense 0.001 benign 0.23 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1284190712 19q13.42 19 55483466G> T null R M 757 757 missense 0.281 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1363091322 19q13.42 19 55483468C> T null Q * 758 758 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1363091322 19q13.42 19 55483468C> A null Q K 758 758 missense 0.0 benign 0.41 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1274652343 19q13.42 19 55483475C> T null P L 760 760 missense 0.001 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1204043019 19q13.42 19 55483478G> C null R P 761 761 missense 0.527 possibly damaging 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1204043019 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483478G> A null R Q 761 761 missense 0.125 benign 0.22 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs779467535 19q13.42 19 55483483G> C null V L 763 763 missense 0.06 benign 0.37 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs779467535 19q13.42 19 55483483G> A null V M 763 763 missense 0.571 possibly damaging 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs753366629 19q13.42 19 55483496G> A null G D 767 767 missense 0.451 possibly damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs778816142 19q13.42 19 55483498C> G null Q E 768 768 missense 0.006 benign 0.35 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs747939717 19q13.42 19 55483500G> C null Q H 768 768 missense 0.466 possibly damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs771798555 19q13.42 19 55483501G> A null G R 769 769 missense 0.028 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs777995863 19q13.42 19 55483505C> T null A V 770 770 missense 0.04 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs373429674 19q13.42 19 55483510G> A null V M 772 772 missense 0.01 benign 0.05 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs776626699 19q13.42 19 55483514T> G null V G 773 773 missense 0.006 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs771153925 19q13.42 19 55483513G> A null V I 773 773 missense 0.04 benign 0.24 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1268748291 19q13.42 19 55483518G> C null W C 774 774 missense 0.003 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1433529107 19q13.42 19 55483517G> T null W L 774 774 missense 0.005 benign 0.64 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs759652989 19q13.42 19 55483519C> A null L M 775 775 missense 0.264 benign 0.12 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1349378032 19q13.42 19 55483529C> G null P R 778 778 missense 0.737 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs776076271 19q13.42 19 55483528C> T null P S 778 778 missense 0.047 benign 0.14 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs551284706 19q13.42 19 55483534G> C null G R 780 780 2.0E-4 missense 0.387 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs551284706 19q13.42 19 55483534G> A null G S 780 780 2.0E-4 missense 0.013 benign 0.34 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1245899568 19q13.42 19 55483544T> C null V A 783 783 missense 0.025 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1217864744 19q13.42 19 55483543G> A null V M 783 783 missense 0.015 benign 0.23 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs760293374 19q13.42 19 55483546C> G null Q E 784 784 missense 0.533 possibly damaging 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1194502922 19q13.42 19 55483548G> T null Q H 784 784 missense 0.899 possibly damaging 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1397163537 19q13.42 19 55483549G> A null G R 785 785 missense 0.003 benign 0.66 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed rs753354017 19q13.42 19 55483553C> G null A G 786 786 missense 0.0 benign 1.0 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs766041551 19q13.42 19 55483552G> A null A T 786 786 missense 0.047 benign 0.14 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed rs753354017 19q13.42 19 55483553C> T null A V 786 786 missense 0.099 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs778836601 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483561G> T null A S 789 789 missense 0.001 benign 0.21 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs778836601 19q13.42 19 55483561G> A null A T 789 789 missense 0.0 benign 0.23 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1319203875 19q13.42 19 55483567G> T null A S 791 791 missense 0.04 benign 0.31 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs758220036 19q13.42 19 55483572C> G null S R 792 792 missense 0.365 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs777470525 19q13.42 19 55483573G> A null G R 793 793 missense 0.006 benign 0.37 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,gnomAD rs530120042 19q13.42 19 55483576A> G null T A 794 794 5.99E-4 missense 0.0 benign 0.72 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1273658064 19q13.42 19 55483577C> T null T I 794 794 missense 0.003 benign 0.05 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,gnomAD rs530120042 19q13.42 19 55483576A> C null T P 794 794 5.99E-4 missense 0.027 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1346747522 19q13.42 19 55483580G> A null G E 795 795 missense 0.168 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs781475278 19q13.42 19 55483587C> A null S R 797 797 missense 0.882 possibly damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375503435 19q13.42 19 55483594G> A null V I 800 800 2.0E-4 missense 0.017 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs930167730 19q13.42 19 55483597C> A null L M 801 801 missense 0.7 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs769943031 19q13.42 19 55483602G> C null Q H 802 802 missense 0.808 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1214151670 19q13.42 19 55483603A> G null N D 803 803 missense 0.009 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs776170068 19q13.42 19 55483605T> A null N K 803 803 missense 0.009 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs769260821 19q13.42 19 55483607T> G null V G 804 804 missense 0.015 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs749847821 19q13.42 19 55483606G> A null V M 804 804 missense 0.808 possibly damaging 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs755972905 19q13.42 19 55483610G> C null G A 805 805 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs912587130 19q13.42 19 55483613G> A null G D 806 806 missense 0.003 benign 0.22 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs765950605 19q13.42 19 55483615G> A null G R 807 807 missense 0.8 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs759069851 19q13.42 19 55483628C> T null P L 811 811 missense 0.003 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs764688690 19q13.42 19 55483630C> G null Q E 812 812 missense 0.031 benign 0.17 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1322539184 19q13.42 19 55483631A> G null Q R 812 812 missense 0.001 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs752171791 19q13.42 19 55483633G> A null E K 813 813 missense 0.634 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs764083798 19q13.42 19 55483639A> G null S G 815 815 missense 0.001 benign 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs751380394 19q13.42 19 55483640G> C null S T 815 815 missense 0.201 benign 0.32 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1233857767 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483642G> T null G W 816 816 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs376779424 19q13.42 19 55483651C> T null L F 819 819 missense 0.81 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1439608362 19q13.42 19 55483658C> T null P L 821 821 missense 0.003 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs756369050 19q13.42 19 55483660C> T null L F 822 822 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,gnomAD rs780328005 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483664G> A null R Q 823 823 missense 0.001 benign 0.3 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs769352712 19q13.42 19 55483672C> G null P A 826 826 missense 0.025 benign 0.42 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs774854473 19q13.42 19 55483673C> T null P L 826 826 missense 0.037 benign 0.24 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs774854473 19q13.42 19 55483673C> A null P Q 826 826 missense 0.001 benign 0.77 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs371286782 19q13.42 19 55483678G> A null V I 828 828 missense 0.01 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1431279428 19q13.42 19 55483682C> T null T I 829 829 missense 0.21 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1305601741 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483684A> G null T A 830 830 missense 0.0 benign 0.17 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,gnomAD rs200801147 19q13.42 19 55483685C> T null T M 830 830 3.99E-4 missense 0.341 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1415260584 19q13.42 19 55483687G> C null V L 831 831 missense 0.329 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1568469052 19q13.42 19 55483693C> T null L F 833 833 missense 0.976 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1568469055 19q13.42 19 55483696C> T null Q * 834 834 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1217015436 19q13.42 19 55483699C> T null P S 835 835 missense 0.556 possibly damaging 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373922538 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483703C> T null A V 836 836 missense 0.105 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1243855748 19q13.42 19 55483706A> G null Q R 837 837 missense 0.027 benign 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73608718 19q13.42 19 55483710G> T null E D 838 838 0.02077 missense 0.075 benign 0.3 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs995261941 19q13.42 19 55483714A> G null T A 840 840 missense 0.0 benign 0.23 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1203285050 19q13.42 19 55483715C> G null T S 840 840 missense 0.025 benign 0.23 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1486070285 19q13.42 19 55483718C> A null T K 841 841 missense 0.549 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1273934601 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483717A> C null T P 841 841 missense 0.737 possibly damaging 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1254740074 19q13.42 19 55483721T> C null V A 842 842 missense 0.149 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs764848720 19q13.42 19 55483720G> C null V L 842 842 missense 0.444 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1423581548 19q13.42 19 55483731G> C null Q H 845 845 missense 0.95 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs760496368 19q13.42 19 55483732C> T null P S 846 846 missense 0.373 benign 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1010086901 19q13.42 19 55483736C> T null A V 847 847 missense 0.086 benign 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,gnomAD rs762448718 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.42 19 55483748C> T null T I 851 851 missense 0.007 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1315474930 19q13.42 19 55483750A> G null T A 852 852 missense 0.028 benign 0.14 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs151142470 19q13.42 19 55483751C> A null T K 852 852 missense 0.525 possibly damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs151142470 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483751C> T null T M 852 852 missense 0.858 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1001275739 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483753G> A null V I 853 853 missense 0.444 benign 0.22 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs750219385 19q13.42 19 55483771C> G null Q E 859 859 missense 0.644 possibly damaging 0.28 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs756459119 19q13.42 19 55483777G> T null V L 861 861 missense 0.115 benign 0.16 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs756459119 19q13.42 19 55483777G> A null V M 861 861 missense 0.731 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs368131720 19q13.42 19 55483780A> G null T A 862 862 missense 0.009 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112775775 19q13.42 19 55483781C> T null T I 862 862 0.01218 missense 0.086 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs368131720 19q13.42 19 55483780A> C null T P 862 862 missense 0.003 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112775775 19q13.42 19 55483781C> G null T S 862 862 0.01218 missense 0.107 benign 0.24 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150319373 19q13.42 19 55483783A> G null T A 863 863 0.002196 missense 0.0 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs772427940 19q13.42 19 55483784C> A null T K 863 863 missense 0.007 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs747362459 19q13.42 19 55483791G> C null Q H 865 865 missense 0.808 possibly damaging 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1250228128 19q13.42 19 55483795C> T null Q * 867 867 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1186276592 19q13.42 19 55483799C> T null P L 868 868 missense 0.015 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1448111979 19q13.42 19 55483798C> T null P S 868 868 missense 0.007 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1177552983 19q13.42 19 55483807G> T null G C 871 871 missense 0.769 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs775060096 19q13.42 19 55483813C> G null L V 873 873 missense 0.001 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs762467353 19q13.42 19 55483816T> C null S P 874 874 missense 0.001 benign 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1177891591 19q13.42 19 55483820A> G null N S 875 875 missense 0.0 benign 0.36 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs201579301 19q13.42 19 55483826G> A null S N 877 877 missense 0.0 benign 0.29 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs951693222 19q13.42 19 55483827T> A null S R 877 877 missense 0.0 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs201579301 19q13.42 19 55483826G> C null S T 877 877 missense 0.01 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs371303410 19q13.42 19 55483829G> C null G A 878 878 missense 0.838 possibly damaging 0.42 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs371303410 19q13.42 19 55483829G> T null G V 878 878 missense 0.638 possibly damaging 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs957158945 19q13.42 19 55483832G> A null G E 879 879 missense 0.003 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1217806902 19q13.42 19 55483835C> T null A V 880 880 missense 0.154 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs750307464 19q13.42 19 55483840G> A null A T 882 882 missense 0.0 benign 0.89 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs987047536 19q13.42 19 55483843A> G null T A 883 883 missense 0.003 benign 0.33 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1158148117 19q13.42 19 55483844C> T null T I 883 883 missense 0.119 benign 0.02 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs912710409 19q13.42 19 55483847A> T null E V 884 884 missense 0.559 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1270648410 19q13.42 19 55483852C> G null P A 886 886 missense 0.04 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1208445824 19q13.42 19 55483855A> G null N D 887 887 missense 0.08 benign 0.3 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1453704687 19q13.42 19 55483865T> C null V A 890 890 missense 0.001 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs373738859 19q13.42 19 55483867G> A null V I 891 891 missense 0.348 benign 0.14 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs779090879 19q13.42 19 55483870C> G null Q E 892 892 missense 0.005 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs752699824 19q13.42 19 55483875C> A null S R 893 893 missense 0.019 benign 0.02 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs778251937 19q13.42 19 55483877G> A null G E 894 894 missense 0.003 benign 0.34 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs759002883 19q13.42 19 55483876G> A null G R 894 894 missense 0.248 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs778251937 19q13.42 19 55483877G> T null G V 894 894 missense 0.035 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1394953511 19q13.42 19 55483879G> T null A S 895 895 missense 0.006 benign 0.16 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs747380989 19q13.42 19 55483887G> T null E D 897 897 missense 0.549 possibly damaging 0.05 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs771232277 19q13.42 19 55483890G> C null E D 898 898 missense 0.01 benign 0.09 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1392077260 19q13.42 19 55483894C> T null L F 900 900 missense 0.503 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,gnomAD rs749006014 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483898C> A null T N 901 901 missense 0.094 benign 0.04 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,TOPMed,gnomAD rs368510126 19q13.42 19 55483897A> C null T P 901 901 missense 0.095 benign 0.09 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs749006014 19q13.42 19 55483898C> G null T S 901 901 missense 0.025 benign 0.26 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1274135536 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483904C> T null P L 903 903 missense 0.192 benign 0.04 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1244657329 19q13.42 19 55483907G> C null G A 904 904 missense 0.036 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1223306714 19q13.42 19 55483906G> A null G S 904 904 missense 0.007 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1253391858 19q13.42 19 55483910C> T null P L 905 905 missense 0.04 benign 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1182214409 19q13.42 19 55483909C> T null P S 905 905 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1426179615 19q13.42 19 55483913G> A null G E 906 906 missense 0.266 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs772139227 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.42 19 55483912G> A null G R 906 906 missense 0.389 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs772139227 19q13.42 19 55483912G> C null G R 906 906 missense 0.389 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs772139227 19q13.42 19 55483912G> T null G W 906 906 missense 0.88 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs920009714 19q13.42 19 55483919C> A null A E 908 908 missense 0.092 benign 0.78 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1414239790 19q13.42 19 55483918G> A null A T 908 908 missense 0.025 benign 0.4 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs920009714 19q13.42 19 55483919C> T null A V 908 908 missense 0.0 benign 0.64 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1482749925 19q13.42 19 55483922G> A null G E 909 909 missense 0.64 possibly damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1349567991 19q13.42 19 55483924G> A null D N 910 910 missense 0.121 benign 0.15 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1462716077 19q13.42 19 55483925A> T null D V 910 910 missense 0.119 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs73608719 19q13.42 19 55483932G> T null E D 912 912 0.02077 missense 0.073 benign 0.25 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,gnomAD rs532632486 19q13.42 19 55483931A> G null E G 912 912 2.0E-4 missense 0.0 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1348721418 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 19q13.42 19 55483930G> A null E K 912 912 missense 0.058 benign 0.1 tolerated 1 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1348721418 19q13.42 19 55483930G> C null E Q 912 912 missense 0.018 benign 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed rs138514447 19q13.42 19 55483934C> T null A V 913 913 missense 0.217 benign 0.41 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs765366997 19q13.42 19 55483937G> T null S I 914 914 missense 0.431 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1227010337 19q13.42 19 55483938C> A null S R 914 914 missense 0.013 benign 0.08 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1317312016 19q13.42 19 55483939A> C null T P 915 915 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs758347356 19q13.42 19 55483943G> C null G A 916 916 missense 0.04 benign 0.19 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs758347356 19q13.42 19 55483943G> A null G D 916 916 missense 0.06 benign 0.05 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs752890556 19q13.42 19 55483942G> C null G R 916 916 missense 0.172 benign 0.03 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1052838075 19q13.42 19 55483945G> T null V L 917 917 missense 0.005 benign 0.08 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1052838075 19q13.42 19 55483945G> A null V M 917 917 missense 0.007 benign 0.08 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs764601137 19q13.42 19 55483949T> C null V A 918 918 missense 0.758 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1299362377 19q13.42 19 55483948G> C null V L 918 918 missense 0.758 possibly damaging 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1204346028 19q13.42 19 55483951C> T null Q * 919 919 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1238023425 19q13.42 19 55483954G> A null D N 920 920 missense 0.721 possibly damaging 0.14 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1238023425 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483954G> T null D Y 920 920 missense 0.865 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC rs752016462 19q13.42 19 55483958T> C null V A 921 921 missense 0.028 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1179860837 19q13.42 19 55483960C> T null L F 922 922 missense 0.158 benign 0.27 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1412804496 19q13.42 19 55483965T> G null F L 923 923 missense 0.001 benign 0.44 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs781582196 19q13.42 19 55483968G> T null E D 924 924 missense 0.103 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs757653578 19q13.42 19 55483966G> C null E Q 924 924 missense 0.917 probably damaging 0.12 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs746200717 19q13.42 19 55483970C> A null T K 925 925 missense 0.721 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs771657134 19q13.42 19 55483984G> C null E Q 930 930 missense 0.19 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1283904391 19q13.42 19 55483987G> A null G S 931 931 missense 0.648 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs765478490 19q13.42 19 55483992G> T null L F 932 932 missense 0.964 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC rs143834459 19q13.42 19 55483996A> C null S R 934 934 missense 0.681 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs746983964 19q13.42 19 55483998C> G null S R 934 934 missense 0.681 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,TOPMed,gnomAD rs759599920 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55483999G> A null V M 935 935 missense 0.889 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1248446929 19q13.42 19 55484005G> T null V L 937 937 missense 0.759 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1443999420 19q13.42 19 55484014G> A null G R 940 940 missense 0.889 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs143260849 19q13.42 19 55484018C> A null A D 941 941 missense 0.224 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,gnomAD rs200160847 19q13.42 19 55484021A> C null D A 942 942 2.0E-4 missense 0.028 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1190714376 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19q13.42 19 55484020G> A null D N 942 942 missense 0.03 benign 0.12 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,gnomAD rs200160847 19q13.42 19 55484021A> T null D V 942 942 2.0E-4 missense 0.373 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1173196992 19q13.42 19 55484024G> A null G D 943 943 missense 0.924 probably damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,TOPMed,gnomAD rs376367145 19q13.42 19 55484026G> A null E K 944 944 missense 0.247 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs369532531 19q13.42 19 55484029C> G null Q E 945 945 missense 0.627 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs757815103 19q13.42 19 55484031G> C null Q H 945 945 missense 0.963 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1322114362 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55484036G> A null R Q 947 947 missense 0.0 benign 0.33 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1568469489 19q13.42 19 55484050G> A null E K 952 952 missense 0.418 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs758091696 19q13.42 19 55484057A> G null E G 954 954 missense 0.87 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1277875059 19q13.42 19 55484056G> A null E K 954 954 missense 0.53 possibly damaging 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1245992511 19q13.42 19 55484060C> T null T I 955 955 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs777475740 19q13.42 19 55484059A> C null T P 955 955 missense 0.146 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs771060368 19q13.42 19 55484062C> T null L F 956 956 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs756567133 19q13.42 19 55484065C> G null P A 957 957 missense 0.0 benign 0.3 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1477122355 19q13.42 19 55484066C> T null P L 957 957 missense 0.025 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs756567133 19q13.42 19 55484065C> T null P S 957 957 missense 0.001 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,NCI-TCGA,TOPMed,gnomAD rs756567133 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55484065C> A null P T 957 957 missense 0.025 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1413408723 19q13.42 19 55484069C> T null P L 958 958 missense 0.003 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs769430062 19q13.42 19 55484068C> T null P S 958 958 missense 0.001 benign 0.32 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs763206976 19q13.42 19 55484075T> C null L P 960 960 missense 0.005 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1323881559 19q13.42 19 55484078C> T null T M 961 961 missense 0.202 benign 0.05 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1277378485 19q13.42 19 55484080G> T null E * 962 962 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs761810805 19q13.42 19 55484084C> T null P L 963 963 missense 0.006 benign 0.07 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1433733338 19q13.42 19 55484083C> T null P S 963 963 missense 0.003 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1347113909 19q13.42 19 55484086C> G null P A 964 964 missense 0.001 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs369099680 19q13.42 19 55484090C> G null A G 965 965 missense 0.003 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs369099680 19q13.42 19 55484090C> T null A V 965 965 missense 0.056 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1568469557 19q13.42 19 55484096G> A null G D 967 967 missense 0.003 benign 0.14 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs150844462 19q13.42 19 55484095G> A null G S 967 967 missense 0.005 benign 0.35 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs142520212 19q13.42 19 55484099C> T null P L 968 968 missense 0.998 probably damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs987382630 19q13.42 19 55484098C> T null P S 968 968 missense 0.996 probably damaging 0.15 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1191008957 19q13.42 19 55484102C> A null P H 969 969 missense 0.424 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1198193148 19q13.42 19 55484101C> T null P S 969 969 missense 0.003 benign 0.27 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1473824118 19q13.42 19 55484104G> A null G R 970 970 missense 0.405 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs566159118 19q13.42 19 55484116C> T null L F 974 974 2.0E-4 missense 0.737 possibly damaging 0.18 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 1000Genomes,ExAC,TOPMed,gnomAD rs566159118 19q13.42 19 55484116C> A null L I 974 974 2.0E-4 missense 0.168 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs146031583 19q13.42 19 55484119A> C null I L 975 975 missense 0.407 benign 0.01 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1458771802 19q13.42 19 55484121C> G null I M 975 975 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs919957339 19q13.42 19 55484120T> A null I N 975 975 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ESP,ExAC,TOPMed,gnomAD rs146031583 19q13.42 19 55484119A> G null I V 975 975 missense 0.162 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1163451285 19q13.42 19 55484125C> T null R C 977 977 missense 0.009 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs756771810 19q13.42 19 55484126G> C null R P 977 977 missense 0.736 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1163451285 19q13.42 19 55484125C> A null R S 977 977 missense 0.28 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs200434264 19q13.42 19 55484131G> C null A P 979 979 missense 0.744 possibly damaging 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs200434264 19q13.42 19 55484131G> T null A S 979 979 missense 0.078 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1301915581 19q13.42 19 55484132C> T null A V 979 979 missense 0.19 benign 0.13 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs769745159 19q13.42 19 55484134C> T null P S 980 980 missense 0.767 possibly damaging 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1286455895 19q13.42 19 55484137G> A null A T 981 981 missense 0.163 benign 0.19 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1245307784 19q13.42 19 55484140A> C null T P 982 982 missense 0.001 benign 0.24 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs779766744 19q13.42 19 55484149C> G null L V 985 985 missense 0.006 benign 0.04 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs768867157 19q13.42 19 55484154C> A null D E 986 986 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs768867157 19q13.42 19 55484154C> G null D E 986 986 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs749074158 19q13.42 19 55484152G> C null D H 986 986 missense 0.264 benign 0.04 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs982866143 19q13.42 19 55484161A> G null N D 989 989 missense 0.0 benign 0.78 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs1364202954 19q13.42 19 55484164A> G null T A 990 990 missense 0.0 benign 0.94 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1443577688 19q13.42 19 55484170G> A null G R 992 992 missense 0.038 benign 0.01 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs868731923 19q13.42 19 55484174G> C null G A 993 993 missense 0.013 benign 0.07 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs868731923 19q13.42 19 55484174G> A null G D 993 993 missense 0.158 benign 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1168115209 19q13.42 19 55484173G> A null G S 993 993 missense 0.007 benign 0.03 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs988185372 19q13.42 19 55484179G> A null A T 995 995 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1424921948 19q13.42 19 55484180C> T null A V 995 995 missense 0.025 benign 0.03 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs774496219 19q13.42 19 55484183C> A null T K 996 996 missense 0.067 benign 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs774496219 19q13.42 19 55484183C> T null T M 996 996 missense 0.01 benign 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1379804432 19q13.42 19 55484191C> G null L V 999 999 missense 0.886 possibly damaging 0.17 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs761902471 19q13.42 19 55484198C> T null A V 1001 1001 missense 0.094 benign 0.02 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1306083195 19q13.42 19 55484200C> T null P S 1002 1002 missense 0.556 possibly damaging 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1395627711 19q13.42 19 55484203C> G null P A 1003 1003 missense 0.0 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1396569436 19q13.42 19 55484204C> A null P Q 1003 1003 missense 0.243 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1395627711 19q13.42 19 55484203C> T null P S 1003 1003 missense 0.001 benign 0.2 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs773310946 19q13.42 19 55484207C> T null P L 1004 1004 missense 0.049 benign 0.15 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs773310946 19q13.42 19 55484207C> A null P Q 1004 1004 missense 0.019 benign 0.14 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs772003657 19q13.42 19 55484206C> T null P S 1004 1004 missense 0.075 benign 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1298658985 19q13.42 19 55484210C> T null S L 1005 1005 missense 0.015 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1179418012 19q13.42 19 55484213G> T null G V 1006 1006 missense 0.01 benign 0.1 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs913882296 19q13.42 19 55484216C> T null P L 1007 1007 missense 0.04 benign 0.01 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1483825070 19q13.42 19 55484218G> A null A T 1008 1008 missense 0.037 benign 0.28 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1202717348 19q13.42 19 55484219C> T null A V 1008 1008 missense 0.0 benign 0.56 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1254498020 19q13.42 19 55484222C> T null S L 1009 1009 missense 0.326 benign 0.02 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs938487398 19q13.42 19 55484228C> T null P L 1011 1011 missense 0.918 probably damaging 0.02 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1182566951 19q13.42 19 55484227C> T null P S 1011 1011 missense 0.777 possibly damaging 0.12 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1304581093 19q13.42 19 55484236C> A null L I 1014 1014 missense 0.0 benign 0.49 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs894388540 19q13.42 19 55484239C> T null P S 1015 1015 missense 0.003 benign 0.17 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs751209628 19q13.42 19 55484243G> A null G E 1016 1016 missense 0.006 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1451710063 19q13.42 19 55484242G> C null G R 1016 1016 missense 0.003 benign 0.04 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 Ensembl rs907084696 19q13.42 19 55484248C> T null P S 1018 1018 missense 0.039 benign 0.19 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,TOPMed,gnomAD rs756861608 19q13.42 19 55484251G> T null A S 1019 1019 missense 0.001 benign 0.52 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs780610790 19q13.42 19 55484252C> T null A V 1019 1019 missense 0.006 benign 0.14 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1312910972 19q13.42 19 55484268A> T null Q H 1024 1024 missense 0.031 benign 0.02 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1323253994 19q13.42 19 55484273T> C null V A 1026 1026 missense 0.111 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs868856277 19q13.42 19 55484272G> A null V I 1026 1026 missense 0.05 benign 0.17 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs868856277 19q13.42 19 55484272G> C null V L 1026 1026 missense 0.003 benign 0.3 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs865820852 19q13.42 19 55484278G> A null A T 1028 1028 missense 0.003 benign 0.22 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1250326646 19q13.42 19 55484279C> T null A V 1028 1028 missense 0.001 benign 0.07 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs749930103 19q13.42 19 55484285C> G null A G 1030 1030 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1465924038 19q13.42 19 55484284G> T null A S 1030 1030 missense 0.001 benign 0.06 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs749930103 19q13.42 19 55484285C> T null A V 1030 1030 missense 0.001 benign 0.21 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1433303567 19q13.42 19 55484293G> C null G R 1033 1033 missense 0.444 benign 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs898272374 19q13.42 19 55484296G> A null V I 1034 1034 missense 0.027 benign 0.17 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs898272374 19q13.42 19 55484296G> C null V L 1034 1034 missense 0.02 benign 0.32 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1469254321 19q13.42 19 55484301G> C null M I 1035 1035 missense 0.001 benign 0.19 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs756069028 19q13.42 19 55484300T> C null M T 1035 1035 missense 0.017 benign 0.26 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1042726635 19q13.42 19 55484303C> T null T I 1036 1036 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1425829995 19q13.42 19 55484305C> G null P A 1037 1037 missense 0.0 benign 0.06 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs867775015 19q13.42 19 55484312G> A null G D 1039 1039 missense 0.056 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1257162545 19q13.42 19 55484311G> A null G S 1039 1039 missense 0.056 benign 0.03 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs779970734 19q13.42 19 55484315T> A null L Q 1040 1040 missense 0.698 possibly damaging 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1288582548 19q13.42 19 55484324T> C null I T 1043 1043 missense 0.142 benign 0.0 deleterious 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1368362096 19q13.42 19 55484329A> G null I V 1045 1045 missense 0.003 benign 0.11 tolerated 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs890205410 19q13.42 19 55484338A> G null T A 1048 1048 missense 0.003 benign 0.09 tolerated - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs890205410 19q13.42 19 55484338A> C null T P 1048 1048 missense 0.469 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1388650642 19q13.42 19 55484339C> G null T S 1048 1048 missense 0.086 benign 0.01 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1340501174 19q13.42 19 55484353C> T null Q * 1053 1053 stop gained 0 A0A087WSX5 ZNF628 Zinc finger protein 628 ExAC,gnomAD rs773222348 19q13.42 19 55484354A> G null Q R 1053 1053 missense 0.792 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed rs1393871174 19q13.42 19 55484359G> A null V M 1055 1055 missense 0.961 probably damaging 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 gnomAD rs1213170050 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 55484366C> T null T M 1057 1057 missense 0.858 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSX5 ZNF628 Zinc finger protein 628 TOPMed,gnomAD rs1259832610 19q13.42 19 55484368T> C null F L 1058 1058 missense 0.042 benign 0.0 deleterious - low confidence 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs748835732 17p12 17 15619508T> G null E A 2 2 missense 0.105 benign 0.06 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs777379873 17p12 17 15619507T> G null E D 2 2 missense 0.149 benign 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs755979035 17p12 17 15619502A> G null L P 4 4 missense 0.069 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1337991235 17p12 17 15619500C> G null E Q 5 5 missense 0.913 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs752735042 17p12 17 15619497A> G null S P 6 6 missense 0.017 benign 0.21 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs922811114 17p12 17 15619492C> G null R S 7 7 missense 0.197 benign 0.13 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs754811270 17p12 17 15619481G> C null A G 11 11 missense 0.897 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1321578138 17p12 17 15619482C> G null A P 11 11 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1321578138 17p12 17 15619482C> A null A S 11 11 missense 0.444 benign 0.11 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC rs751725401 17p12 17 15619478G> T null P H 12 12 missense 0.967 probably damaging 0.05 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1420018882 17p12 17 15619479G> A null P S 12 12 missense 0.17 benign 0.08 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1385658964 17p12 17 15619475T> C null Y C 13 13 missense 0.029 benign 0.15 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,TOPMed,gnomAD rs202021798 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15619470G> A null R C 15 15 missense 0.031 benign 0.04 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1201781215 cosmic curated [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:328 17p12 17 15619469C> T null R H 15 15 missense 0.013 benign 0.08 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs762981756 17p12 17 15619467A> T null C S 16 16 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1220056720 17p12 17 15619458C> T null G R 19 19 missense 0.222 benign 0.12 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375341389 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15619452C> T null D N 21 21 missense 0.046 benign 0.11 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs375341389 17p12 17 15619452C> A null D Y 21 21 missense 0.17 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,TOPMed,gnomAD rs372428411 17p12 17 15619449A> G null S P 22 22 missense 0.713 possibly damaging 0.24 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs200161785 17p12 17 15619446T> A null I F 23 23 missense 0.089 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs201445711 17p12 17 15619445A> T null I N 23 23 missense 0.503 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs201445711 17p12 17 15619445A> G null I T 23 23 missense 0.098 benign 0.11 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein Ensembl rs1567662867 17p12 17 15619442G> C null P R 24 24 missense 0.976 probably damaging 0.05 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs552589315 17p12 17 15619440G> C null L V 25 25 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1443696803 17p12 17 15619436C> T null C Y 26 26 missense 0.238 benign 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375199803 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15619433C> T null R Q 27 27 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201659993 17p12 17 15619434G> A null R W 27 27 3.99E-4 missense 0.663 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1328033176 17p12 17 15619423C> A null E D 30 30 missense 0.386 benign 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs748993346 17p12 17 15619421G> A null T M 31 31 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs777130119 17p12 17 15619419G> A null R C 32 32 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1178911326 17p12 17 15619418C> T null R H 32 32 missense 0.018 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370886190 17p12 17 15619415A> G null V A 33 33 3.99E-4 missense 0.769 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs747972847 17p12 17 15619400A> C null I S 38 38 missense 0.826 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1189568192 17p12 17 15619398A> T null F I 39 39 missense 0.844 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein Ensembl rs1567662839 17p12 17 15619394G> C null S C 40 40 missense 0.067 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs781206380 17p12 17 15619392T> C null T A 41 41 missense 0.401 benign 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs781206380 17p12 17 15619392T> A null T S 41 41 missense 0.773 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1178561972 17p12 17 15619385T> G null E A 43 43 missense 0.714 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs754722107 17p12 17 15619381C> A null W C 44 44 missense 0.622 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1265363056 17p12 17 15619373C> T null R K 47 47 missense 0.676 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1203953821 17p12 17 15619372C> A null R S 47 47 missense 0.523 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1311286802 17p12 17 15619367T> C null N S 49 49 missense 0.006 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1347419636 17p12 17 15619359A> G null S P 52 52 missense 0.042 benign 0.11 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1373344075 17p12 17 15619349C> G null R T 55 55 missense 0.848 possibly damaging 0.04 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein Ensembl rs1567662815 17p12 17 15619340A> C null V G 58 58 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs967202688 17p12 17 15619331A> G null L P 61 61 missense 0.996 probably damaging 0.06 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368697298 17p12 17 15619325T> G null Q P 63 63 0.003395 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1465317066 17p12 17 15619312T> A null L F 67 67 missense 0.085 benign 0.19 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1368340265 17p12 17 15619314A> C null L V 67 67 missense 0.253 benign 0.11 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs761966306 17p12 17 15619305A> C null L V 70 70 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs754248281 17p12 17 15619302G> C null H D 71 71 missense 0.287 benign 0.1 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs764691195 17p12 17 15619298T> C null Y C 72 72 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1014002360 17p12 17 15619284G> C null L V 77 77 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373629485 17p12 17 15619280T> A null Q L 78 78 3.99E-4 missense 0.085 benign 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373629485 17p12 17 15619280T> G null Q P 78 78 3.99E-4 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1055572790 17p12 17 15619277G> C null T S 79 79 missense 0.05 benign 0.32 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs775972046 17p12 17 15619274G> C null T R 80 80 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1005603398 17p12 17 15619268C> T null G E 82 82 missense 0.996 probably damaging 0.06 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs772618342 17p12 17 15619265T> C null K R 83 83 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1272655509 17p12 17 15619262T> G null D A 84 84 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1235390270 17p12 17 15619258G> T null F L 85 85 missense 0.105 benign 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs772926254 17p12 17 15619249G> C null N K 88 88 missense 0.197 benign 0.08 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1482774887 17p12 17 15619248T> C null R G 89 89 missense 0.984 probably damaging 0.05 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs181555831 17p12 17 15619247C> T null R K 89 89 2.0E-4 missense 0.652 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs181555831 17p12 17 15619247C> G null R T 89 89 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1252959777 17p12 17 15619244G> C null S C 90 90 missense 0.303 benign 0.05 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370245211 cosmic curated [Cosmic]: lung cosmic_study:418 17p12 17 15619241C> T null R Q 91 91 3.99E-4 missense 0.16 benign 0.09 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,gnomAD rs747717927 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15619242G> A null R W 91 91 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs559969871 17p12 17 15619236C> T null D N 93 93 missense 0.001 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1301370933 17p12 17 15619220T> C null E G 98 98 missense 0.073 benign 0.21 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1361297495 17p12 17 15619218C> T null G R 99 99 missense 0.03 benign 0.14 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,TOPMed,gnomAD rs372982872 17p12 17 15619203A> G null S P 104 104 missense 0.062 benign 0.05 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1171308462 17p12 17 15619199G> A null S F 105 105 missense 0.073 benign 0.06 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs758193164 17p12 17 15619197A> C null L V 106 106 missense 0.02 benign 0.46 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs750553231 17p12 17 15619194T> C null N D 107 107 missense 0.049 benign 0.29 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs750553231 17p12 17 15619194T> G null N H 107 107 missense 0.067 benign 0.04 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200834889 17p12 17 15619193T> C null N S 107 107 7.99E-4 missense 0.086 benign 0.13 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs369804816 17p12 17 15619187A> G null M T 109 109 missense 0.02 benign 0.2 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs764315653 17p12 17 15619183C> G null L F 110 110 missense 0.851 possibly damaging 0.06 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1425218618 17p12 17 15619182C> T null D N 111 111 missense 0.786 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs377296198 17p12 17 15619169T> C null E G 115 115 missense 0.105 benign 0.09 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1296806188 17p12 17 15619166T> C null Q R 116 116 missense 0.005 benign 0.18 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs753320119 17p12 17 15619155C> T null E K 120 120 missense 0.713 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188826833 17p12 17 15619141C> G null W C 124 124 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs772693457 17p12 17 15619139A> G null F S 125 125 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs76061382 17p12 17 15619137C> A null A S 126 126 missense 0.007 benign 0.21 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs76061382 17p12 17 15619137C> T null A T 126 126 missense 0.007 benign 0.28 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,TOPMed,gnomAD rs761413180 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15619136G> A null A V 126 126 missense 0.005 benign 0.09 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1205611629 17p12 17 15619131T> C null S G 128 128 missense 0.22 benign 0.17 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1367527418 17p12 17 15619127G> A null T I 129 129 missense 0.747 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs768212627 17p12 17 15619119T> C null T A 132 132 missense 0.702 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1457825745 17p12 17 15619116T> G null K Q 133 133 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,TOPMed,gnomAD rs746945941 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17p12 17 15619112G> A null A V 134 134 missense 0.244 benign 0.07 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs771804913 17p12 17 15619110T> A null N Y 135 135 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs745704909 17p12 17 15619097A> C null L * 139 139 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs757476713 17p12 17 15619091A> G null L P 141 141 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs757476713 17p12 17 15619091A> C null L R 141 141 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,gnomAD rs533622212 17p12 17 15619088T> C null Q R 142 142 2.0E-4 missense 0.442 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1283625587 17p12 17 15619084C> G null M I 143 143 missense 0.062 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1283625587 17p12 17 15619084C> A null M I 143 143 missense 0.062 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs202221942 17p12 17 15619077G> A null P S 146 146 2.0E-4 missense 0.044 benign 0.2 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs768165760 17p12 17 15619073T> C null K R 147 147 missense 0.011 benign 0.07 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs768165760 17p12 17 15619073T> G null K T 147 147 missense 0.033 benign 0.04 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs755261085 17p12 17 15619069T> A null L F 148 148 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs751924405 17p12 17 15619065G> A null L F 150 150 missense 0.042 benign 0.22 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1347523280 17p12 17 15619058G> A null A V 152 152 missense 0.728 possibly damaging 0.1 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1302107020 17p12 17 15619056C> T null A T 153 153 missense 0.139 benign 0.06 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1389218760 17p12 17 15619047T> C null I V 156 156 missense 0.026 benign 0.4 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1466530658 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15619035A> G null F L 160 160 missense 0.001 benign 0.44 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1400009624 17p12 17 15619032G> C null L V 161 161 missense 0.017 benign 0.31 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs776333200 17p12 17 15619023C> T null E K 164 164 missense 0.001 benign 0.54 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs775365148 17p12 17 15619010G> C null S * 168 168 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs775365148 17p12 17 15619010G> A null S L 168 168 missense 0.017 benign 0.14 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1252584055 17p12 17 15619008C> G null G R 169 169 missense 0.92 probably damaging 0.2 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs759508281 17p12 17 15615809C> A null G V 169 169 missense 0.607 possibly damaging 0.06 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199671807 17p12 17 15615801G> C null Q E 172 172 2.0E-4 missense 0.001 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1358055982 17p12 17 15615800T> C null Q R 172 172 missense 0.007 benign 0.17 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1448355669 17p12 17 15615794A> G null I T 174 174 missense 0.003 benign 0.39 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs762681852 17p12 17 15615782C> T null C Y 178 178 missense 0.005 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1333166842 17p12 17 15615779A> G null F S 179 179 missense 0.16 benign 0.09 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1393911337 17p12 17 15615776G> T null S Y 180 180 missense 0.005 benign 0.91 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1304185800 17p12 17 15615771C> T null E K 182 182 missense 0.031 benign 0.08 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1386555948 17p12 17 15615767T> C null K R 183 183 missense 0.036 benign 0.14 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1338179823 17p12 17 15615764T> G null D A 184 184 missense 0.062 benign 0.11 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1217729176 17p12 17 15615750A> G null S P 189 189 missense 0.786 possibly damaging 0.15 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs372782740 17p12 17 15615746G> T null A E 190 190 missense 0.001 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372782740 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23917401,cosmic_study:329,cosmic_study:552 17p12 17 15615746G> A null A V 190 190 missense 0.003 benign 0.23 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1165386120 17p12 17 15615734A> T null V D 194 194 missense 0.481 possibly damaging 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs748433280 17p12 17 15615735C> T null V I 194 194 missense 0.012 benign 0.34 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs572371649 17p12 17 15615731T> C null Y C 195 195 2.0E-4 missense 0.011 benign 0.2 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1473034908 17p12 17 15615732A> G null Y H 195 195 missense 0.019 benign 0.25 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs780440925 17p12 17 15615728C> T null W * 196 196 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs558810490 17p12 17 15615729A> C null W G 196 196 5.99E-4 missense 0.017 benign 0.15 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs558810490 17p12 17 15615729A> G null W R 196 196 5.99E-4 missense 0.029 benign 0.16 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs758747777 cosmic curated [Cosmic]: large_intestine cosmic_study:376 17p12 17 15615722G> A null A V 198 198 missense 0.03 benign 0.28 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs750755512 17p12 17 15615720T> G null K Q 199 199 missense 0.36 benign 0.17 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1487966469 17p12 17 15615719T> G null K T 199 199 missense 0.287 benign 0.17 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1259815305 17p12 17 15615710T> C null H R 202 202 missense 0.098 benign 0.45 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs973598983 17p12 17 15615704G> A null S F 204 204 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1193308071 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 17p12 17 15615702G> A null L F 205 205 missense 0.0 benign 1.0 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs373640136 17p12 17 15615692G> A null S F 208 208 missense 0.132 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1264339019 17p12 17 15615693A> G null S P 208 208 missense 0.921 probably damaging 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1171306613 17p12 17 15615687C> T null A T 210 210 missense 0.007 benign 0.35 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1283945793 17p12 17 15615683G> A null P L 211 211 missense 0.003 benign 0.54 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1243021378 17p12 17 15615681C> T null E K 212 212 missense 0.02 benign 0.81 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs369772327 17p12 17 15615673T> A null E D 214 214 missense 0.011 benign 0.2 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,TOPMed,gnomAD rs147264211 17p12 17 15615667G> C null F L 216 216 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs377261859 17p12 17 15615665A> T null L H 217 217 missense 0.047 benign 0.46 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1358161796 17p12 17 15615662C> G null G A 218 218 missense 0.005 benign 0.38 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1304929874 17p12 17 15615659G> T null A E 219 219 missense 0.003 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1358054890 17p12 17 15615660C> G null A P 219 219 missense 0.007 benign 0.27 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,gnomAD rs373099024 17p12 17 15615653G> C null S C 221 221 missense 0.077 benign 0.1 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1399008026 17p12 17 15615651T> C null N D 222 222 missense 0.005 benign 0.71 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs766261682 17p12 17 15615649G> T null N K 222 222 missense 0.005 benign 0.63 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1476238966 17p12 17 15615648G> A null P S 223 223 missense 0.205 benign 0.28 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1280228728 17p12 17 15614033T> G null E A 224 224 missense 0.085 benign 0.27 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs773123490 17p12 17 15615645C> T null E K 224 224 missense 0.637 possibly damaging 0.25 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1207527700 17p12 17 15614018T> C null N S 229 229 missense 0.001 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs922653782 17p12 17 15614015G> T null S * 230 230 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs922653782 17p12 17 15614015G> A null S L 230 230 missense 0.085 benign 0.12 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs774849864 17p12 17 15614009C> A null R L 232 232 missense 0.009 benign 0.07 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs774849864 17p12 17 15614009C> T null R Q 232 232 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368578151 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15614010G> A null R W 232 232 missense 0.663 possibly damaging 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1330469555 17p12 17 15614007A> G null C R 233 233 missense 0.111 benign 0.16 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1444250250 17p12 17 15614006C> T null C Y 233 233 missense 0.042 benign 0.41 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs771234241 17p12 17 15614000G> T null S Y 235 235 missense 0.673 possibly damaging 0.1 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs113130850 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15613998C> T null E K 236 236 missense 0.038 benign 0.21 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1424516811 17p12 17 15613994A> G null M T 237 237 missense 0.535 possibly damaging 0.48 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1171317336 17p12 17 15613991T> C null N S 238 238 missense 0.557 possibly damaging 0.22 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs746737120 17p12 17 15613983A> C null F V 241 241 missense 0.26 benign 0.1 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1442118771 17p12 17 15613980A> G null S P 242 242 missense 0.041 benign 0.04 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs779426704 17p12 17 15613973T> C null K R 244 244 missense 0.149 benign 0.14 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs3809727 17p12 17 15613970G> C null A G 245 245 0.4129 missense 0.007 benign 0.34 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs3809727 17p12 17 15613970G> A null A V 245 245 0.4129 missense 0.007 benign 0.21 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1210373755 17p12 17 15613967T> G null D A 246 246 missense 0.039 benign 0.27 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1210373755 17p12 17 15613967T> C null D G 246 246 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1238914370 17p12 17 15613968C> G null D H 246 246 missense 0.005 benign 0.19 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1441387470 17p12 17 15613963T> C null I M 247 247 missense 0.015 benign 0.71 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs750329974 17p12 17 15613961G> T null T N 248 248 missense 0.138 benign 0.29 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1241638238 17p12 17 15613957C> G null K N 249 249 missense 0.029 benign 0.08 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1241638238 17p12 17 15613957C> A null K N 249 249 missense 0.029 benign 0.08 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,NCI-TCGA,TOPMed,gnomAD rs575128109 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15613953C> G null G R 251 251 3.99E-4 missense 0.067 benign 0.11 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1381051071 17p12 17 15613947C> T null D N 253 253 missense 0.013 benign 0.3 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs753552395 17p12 17 15613944G> A null P S 254 254 missense 0.06 benign 0.13 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs764006580 17p12 17 15613939G> T null C * 255 255 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1358759320 17p12 17 15613937T> C null N S 256 256 missense 0.007 benign 0.34 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1281148736 17p12 17 15613934A> G null L P 257 257 missense 0.042 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs775782652 17p12 17 15613924G> T null D E 260 260 missense 0.027 benign 0.24 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs62070406 17p12 17 15613923G> T null L M 261 261 0.3381 missense 0.607 possibly damaging 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs62070406 17p12 17 15613923G> C null L V 261 261 0.3381 missense 0.149 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs572805828 17p12 17 15613916T> C null D G 263 263 9.98E-4 missense 0.205 benign 0.38 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs535326583 17p12 17 15613917C> A null D Y 263 263 9.98E-4 missense 0.476 possibly damaging 0.09 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs773439604 17p12 17 15613914T> C null I V 264 264 missense 0.003 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs770264529 17p12 17 15613911T> C null R G 265 265 missense 0.062 benign 0.17 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1454438987 17p12 17 15613910C> T null R K 265 265 missense 0.026 benign 0.21 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374107063 17p12 17 15613881G> A null R * 275 275 7.99E-4 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374107063 17p12 17 15613881G> C null R G 275 275 7.99E-4 missense 0.749 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs199900111 17p12 17 15613880C> A null R L 275 275 2.0E-4 missense 0.525 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs199900111 17p12 17 15613880C> G null R P 275 275 2.0E-4 missense 0.911 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs199900111 17p12 17 15613880C> T null R Q 275 275 2.0E-4 missense 0.052 benign 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1323962942 17p12 17 15613875A> C null F V 277 277 missense 0.401 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs753880745 17p12 17 15613869G> A null R C 279 279 missense 0.441 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs570653295 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15613868C> T null R H 279 279 2.0E-4 missense 0.139 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs755945975 17p12 17 15613866A> G null Y H 280 280 missense 0.005 benign 0.54 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs752810382 17p12 17 15613860G> C null P A 282 282 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs767754238 17p12 17 15613859G> C null P R 282 282 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs752810382 17p12 17 15613860G> T null P T 282 282 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs766507362 17p12 17 15613851G> A null L F 285 285 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs766507362 17p12 17 15613851G> T null L I 285 285 missense 0.401 benign 0.14 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1165959268 17p12 17 15613850A> G null L P 285 285 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs763368279 17p12 17 15613844T> C null K R 287 287 missense 0.953 probably damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1331835813 17p12 17 15613839T> C null I V 289 289 missense 0.552 possibly damaging 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs930093260 17p12 17 15613727T> C null H R 296 296 missense 0.026 benign 0.32 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs560784762 17p12 17 15613728G> A null H Y 296 296 2.0E-4 missense 0.395 benign 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1436853426 17p12 17 15613721A> G null L P 298 298 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1257604113 17p12 17 15613722G> C null L V 298 298 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs762269317 17p12 17 15613715T> C null K R 300 300 missense 0.011 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1333813691 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17p12 17 15613710C> T null A T 302 302 missense 0.169 benign 0.19 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1474206956 17p12 17 15613707A> G null S P 303 303 missense 0.786 possibly damaging 0.2 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1187084771 17p12 17 15613697T> G null Q P 306 306 missense 0.097 benign 0.14 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs774159942 17p12 17 15613692A> C null W G 308 308 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs774159942 17p12 17 15613692A> G null W R 308 308 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1467185114 17p12 17 15613686C> T null A T 310 310 missense 0.031 benign 0.47 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1303360346 17p12 17 15613680C> A null A S 312 312 missense 0.607 possibly damaging 0.07 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs748858717 17p12 17 15613677G> A null Q * 313 313 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs748858717 17p12 17 15613677G> C null Q E 313 313 missense 0.053 benign 0.31 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs370117442 17p12 17 15613668T> C null K E 316 316 missense 0.767 possibly damaging 0.06 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC rs200884053 17p12 17 15613667T> A null K M 316 316 2.0E-4 missense 0.477 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC rs200884053 17p12 17 15613667T> C null K R 316 316 2.0E-4 missense 0.065 benign 0.17 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374771759 17p12 17 15613665T> G null M L 317 317 3.99E-4 missense 0.0 benign 0.28 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein Ensembl rs1555550701 17p12 17 15613662C> T null D N 318 318 missense 0.894 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs780965278 17p12 17 15613656A> G null S P 320 320 missense 0.029 benign 0.2 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs754777026 17p12 17 15613653C> T null A T 321 321 missense 0.003 benign 0.82 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,TOPMed,gnomAD rs751723403 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15613652G> A null A V 321 321 missense 0.003 benign 0.58 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1194287883 17p12 17 15613650G> C null H D 322 322 missense 0.373 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1484298514 17p12 17 15613649T> A null H L 322 322 missense 0.138 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs757777592 17p12 17 15613646C> G null G A 323 323 missense 0.0 benign 0.47 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,TOPMed,gnomAD rs765289581 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15613647C> T null G S 323 323 missense 0.001 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs754400163 17p12 17 15613644A> T null F I 324 324 missense 0.454 possibly damaging 0.23 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs761139639 17p12 17 15613641T> G null I L 325 325 missense 0.012 benign 0.35 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1296234535 17p12 17 15613634T> C null N S 327 327 missense 0.034 benign 0.1 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs774102802 17p12 17 15613631T> C null Q R 328 328 missense 0.373 benign 0.08 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1402423331 17p12 17 15613625G> A null T I 330 330 missense 0.005 benign 0.27 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1402423331 17p12 17 15613625G> T null T N 330 330 missense 0.272 benign 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs762559697 17p12 17 15613623A> G null F L 331 331 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs957189059 17p12 17 15613616T> C null Q R 333 333 missense 0.756 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1382627521 17p12 17 15612822C> A null G V 334 334 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs761334571 17p12 17 15612823C> A null G W 334 334 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs768550387 17p12 17 15612819G> A null S F 335 335 missense 0.919 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA rs776512385 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15612820A> G null S P 335 335 missense 0.373 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs746999001 17p12 17 15612814T> C null T A 337 337 missense 0.017 benign 0.25 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs775349384 17p12 17 15612813G> T null T K 337 337 missense 0.454 possibly damaging 0.04 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs771766530 17p12 17 15612809T> A null R S 338 338 missense 0.124 benign 0.1 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,gnomAD rs746043687 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15612807C> T null G E 339 339 missense 0.394 benign 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1194429085 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15612802C> T null D N 341 341 missense 0.02 benign 0.35 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein NCI-TCGA,TOPMed,gnomAD rs546763049 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15612796T> C null N D 343 343 missense 0.193 benign 0.06 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1025845558 17p12 17 15612789G> A null A V 345 345 missense 0.911 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs779025188 17p12 17 15612786T> C null N S 346 346 missense 0.02 benign 0.39 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs973435614 17p12 17 15612780_15612781insTTAT G null V A 348 348 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs757367568 17p12 17 15612781C> A null V F 348 348 missense 0.031 benign 0.04 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs757367568 17p12 17 15612781C> T null V I 348 348 missense 0.007 benign 0.27 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1283063723 17p12 17 15612778A> G null S P 349 349 missense 0.007 benign 0.26 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs778045209 17p12 17 15612775T> C null I V 350 350 missense 0.045 benign 0.69 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1356658592 17p12 17 15612772G> T null P T 351 351 missense 0.978 probably damaging 0.14 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs756673548 17p12 17 15612756A> C null V G 356 356 missense 0.007 benign 0.2 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1341881191 17p12 17 15612757C> T null V I 356 356 missense 0.012 benign 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1398781622 17p12 17 15612754C> T null D N 357 357 missense 0.099 benign 0.13 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs376240647 17p12 17 15612749G> C null D E 358 358 missense 0.179 benign 0.25 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151267443 17p12 17 15612748C> T null G R 359 359 9.98E-4 missense 0.925 probably damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs373860055 17p12 17 15612745T> C null K E 360 360 missense 0.074 benign 0.23 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs764901578 17p12 17 15612741C> T null S N 361 361 missense 0.003 benign 0.59 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs761493902 cosmic curated [Cosmic]: large_intestine cosmic_study:376 17p12 17 15612736G> A null R C 363 363 missense 0.021 benign 0.05 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs555877667 17p12 17 15612735C> T null R H 363 363 3.99E-4 missense 0.014 benign 0.16 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs555877667 17p12 17 15612735C> G null R P 363 363 3.99E-4 missense 0.024 benign 0.31 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs761493902 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15612736G> T null R S 363 363 missense 0.332 benign 0.07 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1473268075 17p12 17 15612733C> T null V M 364 364 missense 0.135 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1165171192 17p12 17 15612726T> C null H R 366 366 missense 0.133 benign 0.06 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs763654224 17p12 17 15612723G> A null P L 367 367 missense 0.221 benign 0.08 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1335100848 17p12 17 15612720T> G null K T 368 368 missense 0.183 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs771850748 17p12 17 15612716C> G null W C 369 369 missense 0.917 probably damaging 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1452601152 17p12 17 15612711A> C null L W 371 371 missense 0.978 probably damaging 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs774237720 17p12 17 15612706T> C null T A 373 373 missense 0.072 benign 0.17 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200713812 17p12 17 15612705G> T null T K 373 373 2.0E-4 missense 0.905 possibly damaging 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200713812 cosmic curated [Cosmic]: endometrium cosmic_study:419 17p12 17 15612705G> A null T M 373 373 2.0E-4 missense 0.394 benign 0.1 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP rs372211368 17p12 17 15612703T> G null K Q 374 374 missense 0.615 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1345365483 17p12 17 15607683T> C null N D 375 375 missense 0.139 benign 0.17 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs773583819 17p12 17 15607679T> G null E A 376 376 missense 0.209 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1242139871 17p12 17 15607680C> T null E K 376 376 missense 0.287 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC rs748207917 17p12 17 15607676T> C null Y C 377 377 missense 0.882 possibly damaging 0.09 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3826385 17p12 17 15607674T> C null N D 378 378 0.2927 missense 0.012 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs780395121 17p12 17 15607672G> T null N K 378 378 missense 0.36 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs747612130 17p12 17 15607673T> C null N S 378 378 missense 0.02 benign 0.37 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs377644839 17p12 17 15607670A> G null L P 379 379 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1172298245 17p12 17 15607668A> T null W R 380 380 missense 0.729 possibly damaging 0.33 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1441979836 17p12 17 15607661G> T null A E 382 382 missense 0.786 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1176944184 17p12 17 15607657G> C null Y * 383 383 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs748887793 17p12 17 15607659A> C null Y D 383 383 missense 0.511 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs748887793 17p12 17 15607659A> T null Y N 383 383 missense 0.887 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs755826771 17p12 17 15607648C> A null E D 386 386 missense 0.039 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1238787792 17p12 17 15607650C> T null E K 386 386 missense 0.041 benign 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs547012689 17p12 17 15607643G> A null T M 388 388 2.0E-4 missense 0.973 probably damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1000433095 17p12 17 15607627C> T null M I 393 393 missense 0.125 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs751548916 17p12 17 15607629T> A null M L 393 393 missense 0.127 benign 0.29 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs375673737 17p12 17 15607628A> G null M T 393 393 missense 0.105 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs751548916 17p12 17 15607629T> C null M V 393 393 missense 0.196 benign 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs762864647 17p12 17 15607621C> G null E D 395 395 missense 0.309 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs773528765 17p12 17 15607619C> A null R I 396 396 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1415534213 17p12 17 15607617T> C null N D 397 397 missense 0.698 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs58687197 17p12 17 15607609G> C null F L 399 399 2.0E-4 missense 0.69 possibly damaging 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1408278012 17p12 17 15607611A> C null F V 399 399 missense 0.597 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs180881468 17p12 17 15607602T> C null T A 402 402 0.001398 missense 0.196 benign 0.13 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs768849360 17p12 17 15607601G> A null T I 402 402 missense 0.16 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1399253513 17p12 17 15607597G> T null Y * 403 403 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs377740907 17p12 17 15607598T> C null Y C 403 403 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1415600335 17p12 17 15607595T> C null N S 404 404 missense 0.573 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs775996838 17p12 17 15607590G> A null R C 406 406 missense 0.071 benign 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs200565380 17p12 17 15607589C> T null R H 406 406 missense 0.03 benign 0.09 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs200565380 17p12 17 15607589C> A null R L 406 406 missense 0.031 benign 0.19 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs200565380 17p12 17 15607589C> G null R P 406 406 missense 0.938 probably damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1297615725 17p12 17 15607584G> T null L I 408 408 missense 0.315 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs747899848 17p12 17 15607580G> C null S C 409 409 missense 0.099 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs747899848 17p12 17 15607580G> A null S F 409 409 missense 0.099 benign 0.05 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein Ensembl rs1567659340 17p12 17 15607578C> G null D H 410 410 missense 0.611 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62070401 17p12 17 15607574G> A null T M 411 411 0.2927 missense 0.099 benign 0.08 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1271431835 17p12 17 15605422A> C null W G 412 412 missense 0.433 benign 0.27 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs774574689 17p12 17 15605418T> A null D V 413 413 missense 0.899 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1295561335 17p12 17 15605414T> G null Q H 414 414 missense 0.693 possibly damaging 0.3 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1308139428 17p12 17 15605415T> C null Q R 414 414 missense 0.003 benign 0.8 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs771329616 17p12 17 15605410G> A null R * 416 416 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs747696173 17p12 17 15605409C> T null R Q 416 416 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,gnomAD rs545859940 17p12 17 15605401G> C null H D 419 419 2.0E-4 missense 0.166 benign 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,gnomAD rs545859940 17p12 17 15605401G> A null H Y 419 419 2.0E-4 missense 0.132 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1440535023 17p12 17 15605397T> C null Y C 420 420 missense 0.188 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1440535023 17p12 17 15605397T> G null Y S 420 420 missense 0.848 possibly damaging 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,gnomAD rs576853393 17p12 17 15605392C> T null G R 422 422 3.99E-4 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1371980024 17p12 17 15605388C> T null G E 423 423 missense 0.714 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs758400693 17p12 17 15605384A> T null D E 424 424 missense 0.017 benign 0.2 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,TOPMed,gnomAD rs750456464 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15605383G> C null L V 425 425 missense 0.249 benign 0.05 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1371613840 17p12 17 15605378T> C null I M 426 426 missense 0.059 benign 0.09 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1395540280 17p12 17 15605379A> G null I T 426 426 missense 0.205 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1466960070 17p12 17 15605373A> G null V A 428 428 missense 0.139 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1251440144 17p12 17 15605371A> C null S A 429 429 missense 0.329 benign 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs757094748 17p12 17 15605368A> T null S T 430 430 missense 0.124 benign 0.07 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201685025 17p12 17 15605362G> A null R * 432 432 0.01418 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,TOPMed,gnomAD rs764342527 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17p12 17 15605361C> T null R Q 432 432 missense 0.919 probably damaging 0.02 deleterious 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs905219529 17p12 17 15605356T> G null I L 434 434 missense 0.77 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1226930121 17p12 17 15605353G> C null H D 435 435 missense 0.098 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1314462024 17p12 17 15605352T> C null H R 435 435 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1045083036 17p12 17 15605350G> A null L F 436 436 missense 0.498 possibly damaging 0.33 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs543745160 17p12 17 15605342G> C null D E 438 438 2.0E-4 missense 0.829 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1339406168 17p12 17 15605344C> A null D Y 438 438 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs752760237 17p12 17 15605337A> G null I T 440 440 missense 0.003 benign 0.39 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1391639177 17p12 17 15605331A> C null V G 442 442 missense 0.001 benign 0.21 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1395271508 17p12 17 15605325G> T null A E 444 444 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1395271508 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15605325G> A null A V 444 444 missense 0.0 benign 0.07 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein Ensembl rs1215878310 17p12 17 15605319G> T null P H 446 446 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1467080161 17p12 17 15605320G> A null P S 446 446 missense 0.917 probably damaging 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,gnomAD rs759968722 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15605317C> T null V I 447 447 missense 0.001 benign 0.78 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1172930846 17p12 17 15605312T> A null E D 448 448 missense 0.185 benign 0.62 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs973867474 17p12 17 15605309G> C null F L 449 449 missense 0.036 benign 0.21 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,TOPMed,gnomAD rs774934007 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17p12 17 15605308G> A null R * 450 450 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,TOPMed,gnomAD rs771153280 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 17p12 17 15605307C> T null R Q 450 450 missense 0.031 benign 0.06 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs554865880 17p12 17 15605305C> A null G C 451 451 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs554865880 17p12 17 15605305C> T null G S 451 451 2.0E-4 missense 0.957 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1412005165 17p12 17 15605304C> A null G V 451 451 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1332672564 17p12 17 15605290C> A null V F 456 456 missense 0.84 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs746720418 17p12 17 15605286C> G null R P 457 457 missense 0.874 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs746720418 17p12 17 15605286C> T null R Q 457 457 missense 0.22 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs773490499 17p12 17 15605287G> A null R W 457 457 missense 0.888 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1339236521 17p12 17 15605280A> G null L P 459 459 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1210776042 17p12 17 15605277A> G null F S 460 460 missense 0.161 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1346285155 17p12 17 15605266C> A null E * 464 464 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1346285155 17p12 17 15605266C> T null E K 464 464 missense 0.02 benign 0.44 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs189361337 17p12 17 15605260T> C null N D 466 466 0.009984 missense 0.457 possibly damaging 0.14 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1240124403 17p12 17 15605251G> C null L V 469 469 missense 0.044 benign 0.1 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1304396352 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17p12 17 15605245C> T null G R 471 471 missense 0.801 possibly damaging 0.01 deleterious 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1355505897 17p12 17 15605241C> T null S N 472 472 missense 0.654 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1312248141 17p12 17 15605239A> G null Y H 473 473 missense 0.476 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1432807015 17p12 17 15605234G> T null D E 474 474 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs778937925 17p12 17 15605233G> C null L V 475 475 missense 0.535 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1449486791 17p12 17 15605229C> A null S I 476 476 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1158931681 17p12 17 15605224T> C null R G 478 478 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs773778722 17p12 17 15598649A> G null W R 480 480 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1272078991 17p12 17 15598646C> G null D H 481 481 missense 0.909 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs770884122 17p12 17 15598637T> C null S G 484 484 missense 0.373 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs371944988 17p12 17 15598636C> T null S N 484 484 missense 0.017 benign 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1226637470 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15598633C> T null G E 485 485 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs898303607 17p12 17 15598630A> G null V A 486 486 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs898303607 17p12 17 15598630A> C null V G 486 486 missense 0.007 benign 0.04 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1012744537 17p12 17 15598631C> T null V I 486 486 missense 0.003 benign 0.09 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1441292454 17p12 17 15598627C> T null C Y 487 487 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs574467146 17p12 17 15598624G> A null T I 488 488 missense 0.003 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs369249221 cosmic curated [Cosmic]: lung cosmic_study:418 17p12 17 15598622G> A null R * 489 489 missense 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1421714111 17p12 17 15598619T> C null I V 490 490 missense 0.23 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,TOPMed,gnomAD rs755197681 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15598613C> T null G S 492 492 missense 0.001 benign 0.35 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs751636256 17p12 17 15598607G> A null H Y 494 494 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs766427634 17p12 17 15598604G> A null Q * 495 495 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1252059852 17p12 17 15598600C> T null G E 496 496 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs570041219 17p12 17 15598598T> C null T A 497 497 2.0E-4 missense 0.221 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs762294376 17p12 17 15598591G> A null T I 499 499 missense 0.802 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1408796467 17p12 17 15598592T> A null T S 499 499 missense 0.105 benign 0.12 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC rs550159657 17p12 17 15598589A> T null C S 500 500 3.99E-4 missense 0.279 benign 0.08 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1393923262 17p12 17 15598578C> A null L F 503 503 missense 0.417 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs767253838 17p12 17 15598567C> T null R K 507 507 missense 0.012 benign 0.56 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1375322765 17p12 17 15598565G> A null L F 508 508 missense 0.162 benign 0.21 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs773903984 17p12 17 15598562C> T null V I 509 509 missense 0.889 possibly damaging 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1189455129 17p12 17 15598553C> T null G R 512 512 missense 0.642 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1439011734 17p12 17 15598541G> A null Q * 516 516 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs749190650 17p12 17 15598532C> T null V I 519 519 missense 0.267 benign 0.24 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs749190650 17p12 17 15598532C> G null V L 519 519 missense 0.127 benign 0.14 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1402795370 17p12 17 15596656T> C null D G 521 521 missense 0.982 probably damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1449125502 17p12 17 15596654C> T null V I 522 522 missense 0.001 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1408351704 17p12 17 15596650T> C null D G 523 523 missense 0.205 benign 0.19 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1157600846 17p12 17 15596647G> A null T I 524 524 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1468200821 17p12 17 15596644C> T null G E 525 525 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs201479563 cosmic curated [Cosmic]: endometrium cosmic_study:419 17p12 17 15596629G> A null T M 530 530 missense 0.973 probably damaging 0.0 deleterious 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs201479563 17p12 17 15596629G> C null T R 530 530 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1306179214 17p12 17 15596599G> A null T I 540 540 missense 0.012 benign 0.36 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs761798110 17p12 17 15596597T> C null R G 541 541 missense 0.019 benign 0.09 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs776407710 17p12 17 15596591T> C null N D 543 543 missense 0.02 benign 0.33 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs371039412 17p12 17 15596590T> C null N S 543 543 missense 0.02 benign 0.27 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1408415079 17p12 17 15596585T> C null T A 545 545 missense 0.193 benign 0.05 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1415417207 17p12 17 15596578A> G null I T 547 547 missense 0.948 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1459452697 17p12 17 15596575A> G null V A 548 548 missense 0.8 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs780164354 17p12 17 15596569C> T null S N 550 550 missense 0.84 possibly damaging 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1301603624 17p12 17 15596566C> T null C Y 551 551 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368451895 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 17p12 17 15596561G> A null R * 553 553 missense 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs745917975 cosmic curated [Cosmic]: kidney pubmed:23797736,cosmic_study:494 17p12 17 15596560C> T null R Q 553 553 missense 0.052 benign 0.18 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1419485818 17p12 17 15596554A> C null L R 555 555 missense 0.054 benign 0.17 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1410033320 17p12 17 15596545A> T null V E 558 558 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs575388889 17p12 17 15596546C> G null V L 558 558 2.0E-4 missense 0.82 possibly damaging 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs575388889 17p12 17 15596546C> T null V M 558 558 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs556615038 17p12 17 15596536A> G null I T 561 561 2.0E-4 missense 0.034 benign 0.1 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs778140745 17p12 17 15596537T> C null I V 561 561 missense 0.005 benign 0.5 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC rs763909475 17p12 17 15594890T> G null T P 569 569 missense 0.888 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1353937012 17p12 17 15594886A> G null L P 570 570 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1166608850 17p12 17 15594881C> T null G S 572 572 missense 0.854 possibly damaging 0.04 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs759770336 17p12 17 15594875C> T null E K 574 574 missense 0.847 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs774736641 17p12 17 15594872C> T null G R 575 575 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1179082047 17p12 17 15594866C> T null V M 577 577 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1251279666 17p12 17 15594859C> G null C S 579 579 missense 0.673 possibly damaging 0.11 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs544265129 17p12 17 15594858G> C null C W 579 579 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,gnomAD rs575634403 17p12 17 15594854A> G null F L 581 581 2.0E-4 missense 0.138 benign 0.64 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs748758684 17p12 17 15594848C> A null D Y 583 583 missense 0.978 probably damaging 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1389865387 17p12 17 15594840C> A null W C 585 585 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC rs781345856 17p12 17 15594837A> T null H Q 586 586 missense 0.339 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1329055673 17p12 17 15594838T> C null H R 586 586 missense 0.173 benign 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs971856474 17p12 17 15594835A> T null L H 587 587 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs971856474 17p12 17 15594835A> G null L P 587 587 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,gnomAD rs745477774 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15594827C> T null G R 590 590 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1305588125 17p12 17 15594821T> C null T A 592 592 missense 0.001 benign 0.88 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1172794912 17p12 17 15594817T> C null D G 593 593 missense 0.698 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1375920579 17p12 17 15594818C> G null D H 593 593 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs199529529 17p12 17 15594809C> G null V L 596 596 missense 0.756 possibly damaging 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,TOPMed,gnomAD rs753272069 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17p12 17 15594802G> A null A V 598 598 missense 0.321 benign 0.06 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,gnomAD rs542118953 17p12 17 15594796C> T null S N 600 600 2.0E-4 missense 0.745 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs752690380 17p12 17 15594795G> T null S R 600 600 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs376007100 17p12 17 15594791C> G null V L 602 602 missense 0.007 benign 0.27 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs376007100 17p12 17 15594791C> T null V M 602 602 missense 0.094 benign 0.11 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1258815202 17p12 17 15594787C> G null G A 603 603 missense 0.315 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs759433911 17p12 17 15594784T> C null K R 604 604 missense 0.452 possibly damaging 0.02 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1262176528 17p12 17 15594779C> T null E K 606 606 missense 0.54 possibly damaging 0.38 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs573060209 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 17p12 17 15594776G> A null R C 607 607 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201107040 17p12 17 15594775C> T null R H 607 607 2.0E-4 missense 0.576 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1234526118 17p12 17 15594767T> C null M V 610 610 missense 0.17 benign 0.1 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1356074830 17p12 17 15594759G> T null F L 612 612 missense 0.273 benign 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1312195395 17p12 17 15594757T> C null K R 613 613 missense 0.011 benign 0.72 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs769923448 17p12 17 15594755G> A null H Y 614 614 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs761986925 17p12 17 15593490A> T null V E 618 618 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148254995 cosmic curated [Cosmic]: endometrium cosmic_study:419 17p12 17 15593485C> T null D N 620 620 0.004593 missense 0.0 benign 0.56 tolerated 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs369935359 17p12 17 15593482C> T null V M 621 621 missense 0.955 probably damaging 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,ExAC,TOPMed,gnomAD rs372176199 17p12 17 15593478G> A null S F 622 622 missense 0.031 benign 0.04 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs777511951 17p12 17 15593467G> A null L F 626 626 missense 0.882 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146110909 17p12 17 15593463C> A null R L 627 627 0.01837 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146110909 17p12 17 15593463C> T null R Q 627 627 0.01837 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs372307584 17p12 17 15593464G> A null R W 627 627 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ESP,TOPMed rs368683309 17p12 17 15593461C> G null V L 628 628 missense 0.943 probably damaging 0.09 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1334963751 17p12 17 15593457A> G null I T 629 629 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1310189945 17p12 17 15593454C> T null S N 630 630 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs758235879 17p12 17 15593453G> T null S R 630 630 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373629441 cosmic curated [Cosmic]: large_intestine cosmic_study:375 17p12 17 15593452C> G null A P 631 631 5.99E-4 missense 0.918 probably damaging 0.01 deleterious 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373629441 17p12 17 15593452C> A null A S 631 631 5.99E-4 missense 0.245 benign 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373629441 17p12 17 15593452C> T null A T 631 631 5.99E-4 missense 0.754 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs761995378 17p12 17 15593449A> G null C R 632 632 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1168966076 17p12 17 15593442T> G null D A 634 634 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200330431 17p12 17 15593431G> A null R * 638 638 5.99E-4 stop gained 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1245706744 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17p12 17 15593430C> T null R Q 638 638 missense 0.964 probably damaging 0.0 deleterious 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1002731247 17p12 17 15593427A> C null I S 639 639 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs906937186 17p12 17 15593421T> C null N S 641 641 missense 0.098 benign 0.06 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs761109324 17p12 17 15593418A> G null F S 642 642 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1187858236 17p12 17 15593414G> C null F L 643 643 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs8078150 pubmed:9403059 17p12 17 15593416A> G null F L 643 643 0.3606 missense 0.0 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs79385100 17p12 17 15593413T> G null N H 644 644 0.1971 missense 0.919 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs774625976 17p12 17 15593412T> C null N S 644 644 missense 0.031 benign 0.27 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs774625976 17p12 17 15593412T> G null N T 644 644 missense 0.055 benign 0.72 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79385100 17p12 17 15593413T> A null N Y 644 644 0.1971 missense 0.919 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1339928762 17p12 17 15593405G> C null N K 646 646 missense 0.138 benign 0.03 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1309677317 17p12 17 15593404A> G null C R 647 647 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1282206529 17p12 17 15593403C> T null C Y 647 647 missense 0.828 possibly damaging 0.05 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs747876401 17p12 17 15593399C> T null M I 648 648 missense 0.007 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1373382985 17p12 17 15593400A> G null M T 648 648 missense 0.079 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs769474504 17p12 17 15593401T> C null M V 648 648 missense 0.012 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1274480550 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p12 17 15593390T> C null I M 651 651 missense 0.024 benign 1.0 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1268668826 17p12 17 15593388T> A null K I 652 652 missense 0.851 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs940271656 17p12 17 15593389T> G null K Q 652 652 missense 0.733 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201037558 17p12 17 15593386C> T null A T 653 653 3.99E-4 missense 0.073 benign 0.08 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs768294787 17p12 17 15593375T> G null R S 656 656 missense 0.543 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,NCI-TCGA,gnomAD rs780172995 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 17p12 17 15593371C> T null D N 658 658 missense 0.169 benign 0.02 deleterious 1 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1369171567 17p12 17 15593367G> A null P L 659 659 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs530270956 17p12 17 15593365C> A null V L 660 660 3.99E-4 missense 0.756 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs530270956 17p12 17 15593365C> G null V L 660 660 3.99E-4 missense 0.756 possibly damaging 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,ExAC,TOPMed,gnomAD rs530270956 17p12 17 15593365C> T null V M 660 660 3.99E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,gnomAD rs778634790 17p12 17 15593356A> G null F L 663 663 missense 0.388 benign 0.16 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs757429901 17p12 17 15593350T> G null I L 665 665 missense 0.053 benign 0.08 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein ExAC,TOPMed,gnomAD rs757429901 17p12 17 15593350T> C null I V 665 665 missense 0.03 benign 0.21 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1470933471 17p12 17 15593345C> G null Q H 666 666 missense 0.007 benign 0.2 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs921459331 17p12 17 15593346T> C null Q R 666 666 missense 0.013 benign 0.46 tolerated 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1233853767 17p12 17 15569022A> G null L S 672 672 missense 0.781 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs941525950 17p12 17 15569019C> T null R Q 673 673 missense 0.0 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs113268949 17p12 17 15569020G> A null R W 673 673 missense 0.025 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1229929068 17p12 17 15569011A> T null Y N 676 676 missense 0.136 benign 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1452201507 17p12 17 15569007A> C null L R 677 677 missense 0.0 benign 0.01 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein gnomAD rs1333693718 17p12 17 15569001A> T null V D 679 679 missense 0.888 possibly damaging 0.0 deleterious 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein Ensembl rs1253545605 17p12 17 15568981T> C null R G 686 686 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1394397504 17p12 17 15568980C> T null R K 686 686 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,TOPMed,gnomAD rs569601470 17p12 17 15568965T> C null K R 691 691 2.0E-4 missense 0.124 benign 0.07 tolerated - low confidence 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,TOPMed,gnomAD rs549854933 17p12 17 15568958C> G null E D 693 693 2.0E-4 missense 0.0 benign 0.95 tolerated - low confidence 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1457167963 17p12 17 15568956T> A null K M 694 694 missense 0.959 probably damaging 0.0 deleterious - low confidence 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs1302899767 17p12 17 15568932T> C null N S 702 702 missense 0.0 unknown 0.26 tolerated - low confidence 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs922691601 17p12 17 15568927G> A null R C 704 704 missense 0.005 benign 0.02 deleterious - low confidence 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed,gnomAD rs1163169095 17p12 17 15568926C> T null R H 704 704 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein 1000Genomes,TOPMed,gnomAD rs535836389 17p12 17 15568918C> T null D N 707 707 3.99E-4 missense 0.737 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSX6 CDRT1 CMT1A duplicated region transcript 1 protein TOPMed rs942715016 17p12 17 15568911C> T null G E 709 709 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs776700799 19q13.42 19 54631078C> A null T N 2 2 missense 0.251 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs759448568 19q13.42 19 54631081C> T null P L 3 3 missense 0.018 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1249280320 19q13.42 19 54631080C> T null P S 3 3 missense 0.381 benign 0.23 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs765258791 19q13.42 19 54631083A> T null I F 4 4 missense 0.073 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148624633 19q13.42 19 54631085C> G null I M 4 4 0.01637 missense 0.805 possibly damaging 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764282215 19q13.42 19 54631086C> T null L F 5 5 missense 0.596 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764282215 19q13.42 19 54631086C> G null L V 5 5 missense 0.22 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs370113006 19q13.42 19 54631090C> T null T M 6 6 missense 0.015 benign 0.19 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1248248167 19q13.42 19 54631093T> C null V A 7 7 missense 0.074 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1188237094 19q13.42 19 54631098A> G null I V 9 9 missense 0.012 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs756594142 19q13.42 19 54631104C> T null L F 11 11 missense 0.162 benign 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377722573 19q13.42 19 54631107G> C null G R 12 12 missense 0.94 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377722573 19q13.42 19 54631107G> A null G R 12 12 missense 0.94 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs768738272 19q13.42 19 54631276A> C null S R 14 14 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1160643643 19q13.42 19 54631279C> A null L M 15 15 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1454942964 19q13.42 19 54631283G> A null G D 16 16 missense 0.104 benign 0.21 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs774367726 19q13.42 19 54631282G> A null G S 16 16 missense 0.783 possibly damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568580118 19q13.42 19 54631286C> T null P L 17 17 missense 0.012 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761087323 19q13.42 19 54631289G> A null R Q 18 18 missense 0.964 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1985501 19q13.42 19 54631288C> T null R W 18 18 0.4507 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs374390409 19q13.42 19 54631292C> T null T I 19 19 missense 0.162 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs374390409 19q13.42 19 54631292C> A null T N 19 19 missense 0.251 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1437755442 19q13.42 19 54631295A> C null H P 20 20 missense 0.02 benign 0.39 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs531874051 19q13.42 19 54631296C> A null H Q 20 20 2.0E-4 missense 0.066 benign 0.54 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs751084910 19q13.42 19 54631294C> T null H Y 20 20 missense 0.786 possibly damaging 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs745718480 19q13.42 19 54631297G> A null V M 21 21 missense 0.373 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1022852989 19q13.42 19 54631300C> T null Q * 22 22 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs369012428 19q13.42 19 54631303G> A null A T 23 23 missense 0.121 benign 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs201209520 19q13.42 19 54631500G> A null G E 24 24 missense 0.422 benign 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs201209520 19q13.42 19 54631500G> T null G V 24 24 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1012230566 19q13.42 19 54631502C> A null H N 25 25 missense 0.0 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754762871 19q13.42 19 54631503A> C null H P 25 25 missense 0.0 benign 0.25 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs201224544 19q13.42 19 54631506T> A null L H 26 26 0.002995 missense 0.756 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1468324134 19q13.42 19 54631505C> A null L I 26 26 missense 0.017 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1408054632 cosmic curated [Cosmic]: kidney cosmic_study:416 19q13.42 19 54631509C> T null P L 27 27 missense 0.24 benign 0.04 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1169581517 19q13.42 19 54631514C> T null P S 29 29 missense 0.681 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs752639881 19q13.42 19 54631518C> T null T I 30 30 missense 0.038 benign 0.1 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs777936405 19q13.42 19 54631520C> T null L F 31 31 missense 0.217 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1465593352 19q13.42 19 54631523T> G null W G 32 32 missense 0.517 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1431749536 19q13.42 19 54631524G> T null W L 32 32 missense 0.09 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1360242225 19q13.42 19 54631533C> T null P L 35 35 missense 0.955 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs537456486 19q13.42 19 54631541G> C null V L 38 38 2.0E-4 missense 0.012 benign 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs369505745 19q13.42 19 54631546C> G null I M 39 39 missense 0.715 possibly damaging 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1235413641 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631548C> T null T I 40 40 missense 0.007 benign 0.16 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1294644614 19q13.42 19 54631554G> C null G A 42 42 missense 0.91 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1202378889 19q13.42 19 54631553G> A null G R 42 42 missense 0.986 probably damaging 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1243499019 19q13.42 19 54631563T> G null V G 45 45 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs763587287 19q13.42 19 54631562G> C null V L 45 45 missense 0.085 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs988504832 19q13.42 19 54631566C> A null T N 46 46 missense 0.93 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs560174182 19q13.42 19 54631572G> A null R K 48 48 missense 0.19 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs760088995 19q13.42 19 54631573G> T null R S 48 48 missense 0.065 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1401373541 19q13.42 19 54631580G> A null G R 51 51 missense 0.901 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1401373541 19q13.42 19 54631580G> T null G W 51 51 missense 0.996 probably damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs554096090 19q13.42 19 54631583G> T null G C 52 52 0.001198 missense 0.439 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs574518086 19q13.42 19 54631584G> A null G D 52 52 7.99E-4 missense 0.001 benign 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs554096090 19q13.42 19 54631583G> A null G S 52 52 0.001198 missense 0.0 benign 0.41 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs574518086 19q13.42 19 54631584G> T null G V 52 52 7.99E-4 missense 0.038 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199588814 cosmic curated [Cosmic]: liver pubmed:23788652,cosmic_study:527 19q13.42 19 54631587A> T null Q L 53 53 0.001198 missense 0.0 benign 1.0 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1181433469 19q13.42 19 54631589G> T null E * 54 54 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs369122618 19q13.42 19 54631593C> T null T I 55 55 missense 0.061 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1228963223 19q13.42 19 54631595C> G null Q E 56 56 missense 0.003 benign 0.38 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs770103380 19q13.42 19 54631596A> T null Q L 56 56 missense 0.009 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs780608164 19q13.42 19 54631598G> A null E K 57 57 missense 0.426 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs766976525 19q13.42 19 54631603C> A null Y * 58 58 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1312623561 19q13.42 19 54631601T> G null Y D 58 58 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed rs749592435 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:21798893,cosmic_study:349 19q13.42 19 54631604C> T null R C 59 59 missense 0.028 benign 0.15 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed rs749592435 19q13.42 19 54631604C> G null R G 59 59 missense 0.368 benign 0.26 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs774715846 cosmic curated [Cosmic]: central_nervous_system, [Cosmic]: liver cosmic_study:323,cosmic_study:329 19q13.42 19 54631605G> A null R H 59 59 missense 0.003 benign 1.0 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1490796848 19q13.42 19 54631611A> G null Y C 61 61 missense 0.042 benign 0.15 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1298120204 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19q13.42 19 54631610T> C null Y H 61 61 missense 0.042 benign 0.53 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1428524822 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54631616G> T null E * 63 63 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1428524822 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631616G> A null E K 63 63 missense 0.94 probably damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1443680673 19q13.42 19 54631622A> G null K E 65 65 missense 0.006 benign 0.25 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1160393646 19q13.42 19 54631625A> G null T A 66 66 missense 0.003 benign 0.2 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377752824 19q13.42 19 54631631C> G null P A 68 68 missense 0.0 benign 0.13 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1061679 19q13.42 19 54631632C> T null P L 68 68 0.4683 missense 0.0 benign 0.36 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1061679 19q13.42 19 54631632C> G null P R 68 68 0.4683 missense 0.003 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377752824 19q13.42 19 54631631C> T null P S 68 68 missense 0.0 benign 0.41 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1221500068 cosmic curated [Cosmic]: NS pubmed:24265154,cosmic_study:526 19q13.42 19 54631636G> A null W * 69 69 missense 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs202132279 19q13.42 19 54631644G> A null R Q 72 72 0.004792 missense 0.001 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs148931844 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631643C> T null R W 72 72 0.001997 missense 0.005 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1442231717 19q13.42 19 54631646A> G null I V 73 73 missense 0.003 benign 0.16 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1430305373 19q13.42 19 54631649C> T null P S 74 74 missense 0.007 benign 0.12 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1334117870 19q13.42 19 54631656A> G null E G 76 76 missense 0.011 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs750501464 19q13.42 19 54631658C> A null L I 77 77 missense 0.03 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1411015384 19q13.42 19 54631659T> C null L P 77 77 missense 0.01 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1301782177 19q13.42 19 54631662T> C null V A 78 78 missense 0.046 benign 0.52 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1405170135 19q13.42 19 54631666G> C null K N 79 79 missense 0.027 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs780408011 19q13.42 19 54631665A> G null K R 79 79 missense 0.018 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1361252862 19q13.42 19 54631669G> T null K N 80 80 missense 0.067 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1361252862 19q13.42 19 54631669G> C null K N 80 80 missense 0.067 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376666548 19q13.42 19 54631670G> A null G S 81 81 missense 0.446 possibly damaging 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779278315 19q13.42 19 54631673C> T null Q * 82 82 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779278315 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.42 19 54631673C> A null Q K 82 82 missense 0.0 benign 1.0 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1033290343 19q13.42 19 54631676T> C null F L 83 83 missense 0.981 probably damaging 0.1 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs748620787 19q13.42 19 54631677T> A null F Y 83 83 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs200880414 19q13.42 19 54631686C> T null P L 86 86 7.99E-4 missense 0.044 benign 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1009999647 19q13.42 19 54631689C> G null S C 87 87 missense 0.828 possibly damaging 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1211926269 19q13.42 19 54631692T> A null I N 88 88 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs745357082 19q13.42 19 54631695C> T null T I 89 89 missense 0.419 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs769506618 19q13.42 19 54631702A> T null E D 91 91 missense 0.003 benign 0.67 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes rs34880987 19q13.42 19 54631705_54631706in v null T A 93 93 missense 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12460501 19q13.42 19 54631706A> G null T A 93 93 0.2139 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs533376327 19q13.42 19 54631710G> C null G A 94 94 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs533376327 19q13.42 19 54631710G> A null G E 94 94 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs533376327 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19q13.42 19 54631710G> T null G V 94 94 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs200251602 19q13.42 19 54631713G> T null R L 95 95 missense 0.022 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs200251602 19q13.42 19 54631713G> A null R Q 95 95 missense 0.015 benign 0.28 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147024305 cosmic curated [Cosmic]: large_intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23103869,cosmic_study:328,cosmic_study:376,cosmic_study:436 19q13.42 19 54631712C> T null R W 95 95 0.001198 missense 0.05 benign 0.03 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs756256653 19q13.42 19 54631717T> A null Y * 96 96 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1387488915 19q13.42 19 54631716A> G null Y C 96 96 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs766498638 19q13.42 19 54631718C> T null R C 97 97 missense 0.037 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs377161343 19q13.42 19 54631719G> A null R H 97 97 missense 0.011 benign 0.37 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs766498638 19q13.42 19 54631718C> A null R S 97 97 missense 0.267 benign 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs755174365 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631722G> A null C Y 98 98 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs535742370 19q13.42 19 54631725A> T null Y F 99 99 2.0E-4 missense 0.003 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs570016342 19q13.42 19 54631724T> A null Y N 99 99 2.0E-4 missense 0.023 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs778250190 19q13.42 19 54631728A> G null Y C 100 100 missense 0.977 probably damaging 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs769310682 19q13.42 19 54631731G> A null G D 101 101 missense 0.773 possibly damaging 0.18 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs769310682 19q13.42 19 54631731G> T null G V 101 101 missense 0.876 possibly damaging 0.45 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1261319330 19q13.42 19 54631737A> G null D G 103 103 missense 0.001 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61738512 19q13.42 19 54631736G> C null D H 103 103 0.02576 missense 0.001 benign 0.32 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61738512 19q13.42 19 54631736G> A null D N 103 103 0.02576 missense 0.017 benign 0.13 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1219223217 19q13.42 19 54631739A> G null T A 104 104 missense 0.0 benign 0.16 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568583987 19q13.42 19 54631743C> T null A V 105 105 missense 0.026 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138410838 19q13.42 19 54631748C> T null R C 107 107 0.02156 missense 0.685 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142396802 19q13.42 19 54631749G> A null R H 107 107 3.99E-4 missense 0.397 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142396802 19q13.42 19 54631749G> T null R L 107 107 3.99E-4 missense 0.001 benign 0.1 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142396802 19q13.42 19 54631749G> C null R P 107 107 3.99E-4 missense 0.428 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs796403577 19q13.42 19 54631748_54631750delinsTG G null R W 107 107 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs753911415 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631752C> T null S L 108 108 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs995920823 19q13.42 19 54631754G> A null E K 109 109 missense 0.657 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs796659773 19q13.42 19 54631757_54631758delinsC C null S P 110 110 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs10418552 19q13.42 19 54631757A> C null S R 110 110 0.02156 missense 0.011 benign 0.69 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs10419085 19q13.42 19 54631758G> C null S T 110 110 0.02156 missense 0.019 benign 0.28 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1268303356 19q13.42 19 54631760A> C null S R 111 111 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs753059498 19q13.42 19 54631765C> A null D E 112 112 missense 0.068 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1466416376 cosmic curated [Cosmic]: kidney pubmed:23797736,cosmic_study:494 19q13.42 19 54631767C> T null P L 113 113 missense 0.502 possibly damaging 0.02 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs778057754 19q13.42 19 54631770T> G null L R 114 114 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200993507 19q13.42 19 54631769C> G null L V 114 114 2.0E-4 missense 0.913 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1213270401 19q13.42 19 54631779T> G null V G 117 117 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs779471633 19q13.42 19 54631781G> A null V M 118 118 missense 0.5 possibly damaging 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs763207069 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54631935G> A null G E 120 120 missense 0.941 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376585715 19q13.42 19 54631937G> C null A P 121 121 missense 0.816 possibly damaging 0.23 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376585715 19q13.42 19 54631937G> A null A T 121 121 missense 0.022 benign 0.39 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1439779889 19q13.42 19 54631938C> T null A V 121 121 missense 0.006 benign 0.67 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370374304 19q13.42 19 54631944T> G null I S 123 123 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1377577066 19q13.42 19 54631943A> G null I V 123 123 missense 0.007 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1379338136 19q13.42 19 54631946A> G null K E 124 124 missense 0.098 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1435294615 19q13.42 19 54631947A> G null K R 124 124 missense 0.2 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1187615791 19q13.42 19 54631962C> T null A V 129 129 missense 0.926 probably damaging 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs767704704 19q13.42 19 54631965A> T null Q L 130 130 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs767704704 19q13.42 19 54631965A> G null Q R 130 130 missense 0.179 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC rs756525565 19q13.42 19 54631970A> G null S G 132 132 missense 0.061 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764867290 19q13.42 19 54631976G> A null V M 134 134 missense 0.558 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs752223327 19q13.42 19 54631980T> C null V A 135 135 missense 0.694 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs752223327 19q13.42 19 54631980T> A null V E 135 135 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1248499851 19q13.42 19 54631984C> A null N K 136 136 missense 0.075 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs758173207 19q13.42 19 54631983A> C null N T 136 136 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1394392929 19q13.42 19 54631991G> A null G R 139 139 missense 0.113 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1394392929 19q13.42 19 54631991G> T null G W 139 139 missense 0.241 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs746865460 19q13.42 19 54631994A> G null N D 140 140 missense 0.324 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs199829008 19q13.42 19 54631996T> G null N K 140 140 missense 0.121 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1205770341 19q13.42 19 54631995A> G null N S 140 140 missense 0.006 benign 0.15 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1061680 19q13.42 19 54632001C> T null T I 142 142 0.4373 missense 0.384 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs539532545 19q13.42 19 54632003C> T null L F 143 143 2.0E-4 missense 0.858 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs539532545 19q13.42 19 54632003C> A null L I 143 143 2.0E-4 missense 0.174 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs749360531 19q13.42 19 54632008G> T null Q H 144 144 missense 0.59 possibly damaging 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1411342426 19q13.42 19 54632009T> C null C R 145 145 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761880977 19q13.42 19 54632014C> G null D E 146 146 missense 0.003 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1184877741 19q13.42 19 54632012G> C null D H 146 146 missense 0.808 possibly damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs774563445 19q13.42 19 54632013A> T null D V 146 146 missense 0.01 benign 0.29 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1356240489 19q13.42 19 54632018C> G null Q E 148 148 missense 0.096 benign 0.35 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1202173279 19q13.42 19 54632022T> C null V A 149 149 missense 0.018 benign 0.7 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1464083982 19q13.42 19 54632021G> C null V L 149 149 missense 0.0 benign 0.45 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1464083982 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632021G> A null V M 149 149 missense 0.361 benign 0.16 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1308708047 19q13.42 19 54632027T> C null F L 151 151 missense 0.062 benign 0.12 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1482014567 19q13.42 19 54632028T> C null F S 151 151 missense 0.907 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1061681 19q13.42 19 54632040T> G null I S 155 155 0.4501 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs773404829 19q13.42 19 54632042C> G null L V 156 156 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes rs183166312 19q13.42 19 54632045T> C null C R 157 157 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1343986533 19q13.42 19 54632046G> C null C S 157 157 missense 0.835 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761279862 19q13.42 19 54632051G> A null E K 159 159 missense 0.255 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs866926837 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632055G> A null G E 160 160 missense 0.25 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1218608063 19q13.42 19 54632059A> C null E D 161 161 missense 0.388 benign 0.48 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1242868995 19q13.42 19 54632057G> A null E K 161 161 missense 0.278 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs766969859 19q13.42 19 54632062T> G null D E 162 162 missense 0.001 benign 0.28 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs766969859 19q13.42 19 54632062T> A null D E 162 162 missense 0.001 benign 0.28 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1256864565 19q13.42 19 54632061A> G null D G 162 162 missense 0.51 possibly damaging 0.12 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1256864565 19q13.42 19 54632061A> T null D V 162 162 missense 0.623 possibly damaging 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2781773 19q13.42 19 54632064A> C null E A 163 163 5.99E-4 missense 0.261 benign 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1235386947 19q13.42 19 54632068C> A null H Q 164 164 missense 0.124 benign 0.29 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs763628392 19q13.42 19 54632072C> G null Q E 166 166 missense 0.418 benign 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1430810348 19q13.42 19 54632073A> G null Q R 166 166 missense 0.023 benign 0.53 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs528992461 19q13.42 19 54632075T> C null C R 167 167 3.99E-4 missense 0.001 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs370899308 19q13.42 19 54632076G> A null C Y 167 167 missense 0.427 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1457091342 19q13.42 19 54632079T> A null L Q 168 168 missense 0.405 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs750167334 19q13.42 19 54632085C> T null S F 170 170 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1471294100 19q13.42 19 54632087C> T null Q * 171 171 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs749158954 19q13.42 19 54632089G> T null Q H 171 171 missense 0.006 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779965443 19q13.42 19 54632088A> G null Q R 171 171 missense 0.31 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs768734027 19q13.42 19 54632090C> T null P S 172 172 missense 0.0 benign 0.48 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs768734027 19q13.42 19 54632090C> A null P T 172 172 missense 0.026 benign 0.46 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs772148886 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632097C> G null A G 174 174 missense 0.046 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs772148886 19q13.42 19 54632097C> T null A V 174 174 missense 0.014 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs187892686 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632099C> T null R C 175 175 2.0E-4 missense 0.826 possibly damaging 0.12 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs112916853 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:376,cosmic_study:416 19q13.42 19 54632100G> A null R H 175 175 missense 0.006 benign 0.49 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs112916853 cosmic curated [Cosmic]: lung cosmic_study:583 19q13.42 19 54632100G> C null R P 175 175 missense 0.734 possibly damaging 0.16 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs777279738 19q13.42 19 54632103G> A null G E 176 176 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs760073992 19q13.42 19 54632106C> T null S L 177 177 missense 0.009 benign 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1216109414 19q13.42 19 54632108T> C null S P 178 178 missense 0.05 benign 0.2 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761576024 cosmic curated [Cosmic]: pancreas pubmed:24293293,cosmic_study:529 19q13.42 19 54632111C> T null R C 179 179 missense 0.742 possibly damaging 0.0 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs201729705 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632112G> A null R H 179 179 missense 0.005 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs201729705 19q13.42 19 54632112G> C null R P 179 179 missense 0.627 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs750303692 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632114G> A null A T 180 180 missense 0.98 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779769226 cosmic curated [Cosmic]: pancreas pubmed:24293293,cosmic_study:529 19q13.42 19 54632118T> A null I N 181 181 missense 0.571 possibly damaging 0.0 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs755910748 19q13.42 19 54632117A> G null I V 181 181 missense 0.0 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs754867178 19q13.42 19 54632121T> G null F C 182 182 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376597507 19q13.42 19 54632126G> T null V L 184 184 missense 0.787 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376597507 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632126G> A null V M 184 184 missense 0.941 probably damaging 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs777852964 19q13.42 19 54632129G> T null G C 185 185 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1435007627 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632133C> T null P L 186 186 missense 0.784 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs41308134 19q13.42 19 54632136T> G null V G 187 187 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs529461921 19q13.42 19 54632135G> C null V L 187 187 2.0E-4 missense 0.245 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs529461921 19q13.42 19 54632135G> A null V M 187 187 2.0E-4 missense 0.502 possibly damaging 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1463646594 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632139G> T null S I 188 188 missense 0.932 probably damaging 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,NCI-TCGA,gnomAD rs367841149 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19q13.42 19 54632142C> T null P L 189 189 missense 0.173 benign 0.02 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,TOPMed rs371604379 19q13.42 19 54632144A> G null S G 190 190 missense 0.029 benign 0.21 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761228916 19q13.42 19 54632145G> A null S N 190 190 missense 0.038 benign 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs766988590 19q13.42 19 54632147C> T null R C 191 191 missense 0.019 benign 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs543166769 cosmic curated [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:419 19q13.42 19 54632148G> A null R H 191 191 2.0E-4 missense 0.005 benign 1.0 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1490812359 19q13.42 19 54632154G> A null W * 193 193 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs760269341 19q13.42 19 54632155G> A null W * 193 193 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs373103118 19q13.42 19 54632158G> A null W * 194 194 2.0E-4 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1032919797 19q13.42 19 54632156T> C null W R 194 194 missense 0.0 benign 0.19 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs559801888 19q13.42 19 54632157G> C null W S 194 194 2.0E-4 missense 0.0 benign 0.19 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754953785 19q13.42 19 54632159T> C null Y H 195 195 missense 0.499 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1235784006 19q13.42 19 54632163G> A null R K 196 196 missense 0.917 probably damaging 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs752888395 19q13.42 19 54632172C> G null A G 199 199 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1164583552 19q13.42 19 54632171G> C null A P 199 199 missense 0.263 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs200423268 19q13.42 19 54632181C> T null S L 202 202 5.99E-4 missense 0.013 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747268004 19q13.42 19 54632183A> C null N H 203 203 missense 0.001 benign 0.25 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs757523245 19q13.42 19 54632184A> G null N S 203 203 missense 0.0 benign 0.35 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs781724159 19q13.42 19 54632186T> G null S A 204 204 missense 0.003 benign 0.25 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs746221743 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 19q13.42 19 54632190C> T null P L 205 205 missense 0.928 probably damaging 0.01 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs570444682 19q13.42 19 54632193A> G null Y C 206 206 2.0E-4 missense 0.934 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1277118926 19q13.42 19 54632197G> T null E D 207 207 missense 0.054 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs775869419 19q13.42 19 54632196A> T null E V 207 207 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs200859502 19q13.42 19 54632205T> C null L P 210 210 missense 0.496 possibly damaging 0.28 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1289068184 19q13.42 19 54632213G> C null D H 213 213 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1466298709 19q13.42 19 54632216C> T null L F 214 214 missense 0.743 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1236486035 19q13.42 19 54632224G> C null E D 216 216 missense 0.225 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1306047163 19q13.42 19 54632223A> G null E G 216 216 missense 0.454 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs771507072 19q13.42 19 54632222G> A null E K 216 216 missense 0.979 probably damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182861371 19q13.42 19 54632235T> C null L P 220 220 0.00639 missense 0.0 benign 0.56 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1403936703 19q13.42 19 54632466G> A null V I 222 222 missense 0.889 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1333224029 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632470C> T null S F 223 223 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1393974881 19q13.42 19 54632469T> C null S P 223 223 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs762849912 19q13.42 19 54632473A> G null K R 224 224 missense 0.026 benign 0.98 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1442330289 19q13.42 19 54632488C> T null S L 229 229 missense 0.065 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs761992207 19q13.42 19 54632494A> G null Q R 231 231 missense 0.559 possibly damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC rs532970501 19q13.42 19 54632496C> G null P A 232 232 2.0E-4 missense 0.782 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs549753788 19q13.42 19 54632499G> C null G R 233 233 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1262856890 19q13.42 19 54632503C> T null P L 234 234 missense 0.668 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs780318750 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22622578,cosmic_study:388 19q13.42 19 54632502C> T null P S 234 234 missense 0.523 possibly damaging 0.13 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737863 19q13.42 19 54632507C> G null I M 235 235 0.01158 missense 0.075 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs185055407 19q13.42 19 54632508G> A null V M 236 236 2.0E-4 missense 0.197 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs901288729 19q13.42 19 54632518A> T null E V 239 239 missense 0.009 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs770441281 19q13.42 19 54632524C> T null T I 241 241 missense 0.0 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1464226587 19q13.42 19 54632533T> C null L P 244 244 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1467835208 19q13.42 19 54632532C> G null L V 244 244 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1424884804 19q13.42 19 54632535C> T null Q * 245 245 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs201906215 19q13.42 19 54632537G> T null Q H 245 245 3.99E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1193945064 19q13.42 19 54632536A> G null Q R 245 245 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1245719769 19q13.42 19 54632541G> A null G S 247 247 missense 0.71 possibly damaging 0.41 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1401611427 19q13.42 19 54632542G> T null G V 247 247 missense 0.043 benign 0.54 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1421289928 19q13.42 19 54632545C> T null S F 248 248 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs370658036 19q13.42 19 54632547G> C null D H 249 249 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs768499296 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632551C> T null A V 250 250 missense 0.005 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs767740163 19q13.42 19 54632554G> A null G D 251 251 missense 0.482 possibly damaging 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs767740163 19q13.42 19 54632554G> T null G V 251 251 missense 0.972 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs750497325 19q13.42 19 54632557A> C null Y S 252 252 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs766606336 19q13.42 19 54632559A> G null N D 253 253 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs755374354 19q13.42 19 54632561C> A null N K 253 253 missense 0.096 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs754219465 19q13.42 19 54632560A> G null N S 253 253 missense 0.096 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs779190673 19q13.42 19 54632562A> T null R * 254 254 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1490646874 19q13.42 19 54632563G> A null R K 254 254 missense 0.2 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1268823400 19q13.42 19 54632569T> C null V A 256 256 missense 0.001 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs758861113 19q13.42 19 54632572T> C null L P 257 257 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1373493546 19q13.42 19 54632577A> G null K E 259 259 missense 0.067 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1421234523 19q13.42 19 54632579G> C null K N 259 259 missense 0.76 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed rs367942404 19q13.42 19 54632578A> C null K T 259 259 missense 0.389 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs371764929 19q13.42 19 54632582C> G null D E 260 260 missense 0.001 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1156582673 19q13.42 19 54632580G> A null D N 260 260 missense 0.131 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs534491699 19q13.42 19 54632583G> A null G R 261 261 2.0E-4 missense 0.366 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs774250400 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 19q13.42 19 54632589C> T null R C 263 263 missense 0.014 benign 0.09 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374212814 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632590G> A null R H 263 263 2.0E-4 missense 0.007 benign 0.35 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs368723007 19q13.42 19 54632594C> A null D E 264 264 missense 0.025 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1332430359 19q13.42 19 54632592G> A null D N 264 264 missense 0.037 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1238294608 19q13.42 19 54632605T> G null L R 268 268 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372558482 19q13.42 19 54632607G> C null A P 269 269 missense 0.0 benign 0.91 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372558482 19q13.42 19 54632607G> A null A T 269 269 missense 0.065 benign 0.37 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1272764880 19q13.42 19 54632614C> G null A G 271 271 missense 0.054 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,TOPMed,gnomAD rs201049465 19q13.42 19 54632613G> C null A P 271 271 3.99E-4 missense 0.001 benign 0.12 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,TOPMed,gnomAD rs201049465 19q13.42 19 54632613G> T null A S 271 271 3.99E-4 missense 0.029 benign 0.1 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,NCI-TCGA,TOPMed,gnomAD rs201049465 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632613G> A null A T 271 271 3.99E-4 missense 0.057 benign 0.13 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,TOPMed rs375561323 19q13.42 19 54632616C> T null Q * 272 272 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs200156251 19q13.42 19 54632619C> T null P S 273 273 missense 0.125 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs200156251 19q13.42 19 54632619C> A null P T 273 273 missense 0.073 benign 0.24 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP rs371891126 19q13.42 19 54632622C> T null Q * 274 274 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs779387221 19q13.42 19 54632623A> T null Q L 274 274 missense 0.962 probably damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs61737881 19q13.42 19 54632626C> G null A G 275 275 missense 0.111 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs778897447 19q13.42 19 54632629G> C null G A 276 276 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754649306 19q13.42 19 54632628G> A null G R 276 276 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1417026356 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632631C> T null L F 277 277 missense 0.984 probably damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs556935946 19q13.42 19 54632632T> C null L P 277 277 2.0E-4 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1366669678 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632640G> A null A T 280 280 missense 0.104 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs746862799 19q13.42 19 54632645C> A null N K 281 281 missense 0.018 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737891 19q13.42 19 54632649A> G null T A 283 283 0.01917 missense 0.02 benign 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs536737454 19q13.42 19 54632656G> A null G D 285 285 2.0E-4 missense 0.16 benign 0.2 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs759793070 19q13.42 19 54632655G> A null G S 285 285 missense 0.182 benign 0.2 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs775901137 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54632659C> T null P L 286 286 missense 0.238 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs763313978 19q13.42 19 54632666C> G null S R 288 288 missense 0.015 benign 0.33 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764308584 19q13.42 19 54632667C> T null R C 289 289 missense 0.761 possibly damaging 0.13 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764308584 19q13.42 19 54632667C> G null R G 289 289 missense 0.003 benign 0.5 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs553317698 19q13.42 19 54632668G> A null R H 289 289 2.0E-4 missense 0.007 benign 0.5 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs553317698 19q13.42 19 54632668G> T null R L 289 289 2.0E-4 missense 0.165 benign 0.5 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs553317698 19q13.42 19 54632668G> C null R P 289 289 2.0E-4 missense 0.009 benign 0.37 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1258130893 19q13.42 19 54632670T> C null S P 290 290 missense 0.073 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs573403931 19q13.42 19 54632674A> G null Y C 291 291 3.99E-4 missense 0.749 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs753379737 19q13.42 19 54632673T> C null Y H 291 291 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1183360601 19q13.42 19 54632676G> A null G R 292 292 missense 0.076 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747733651 19q13.42 19 54632679G> T null G C 293 293 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747733651 19q13.42 19 54632679G> C null G R 293 293 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747733651 19q13.42 19 54632679G> A null G S 293 293 missense 0.911 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs758277771 19q13.42 19 54632680G> T null G V 293 293 missense 0.767 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200461258 19q13.42 19 54632687C> G null Y * 295 295 5.99E-4 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs575961556 19q13.42 19 54632689G> C null R T 296 296 2.0E-4 missense 0.55 possibly damaging 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1170190158 19q13.42 19 54632691T> C null C R 297 297 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs563262541 19q13.42 19 54632695A> G null Y C 298 298 3.99E-4 missense 0.105 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs745944888 19q13.42 19 54632694T> C null Y H 298 298 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs563262541 19q13.42 19 54632695A> C null Y S 298 298 3.99E-4 missense 0.047 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376895100 19q13.42 19 54632697G> A null G S 299 299 missense 0.575 possibly damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs762435989 19q13.42 19 54632701C> T null A V 300 300 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1167093429 19q13.42 19 54632704A> C null H P 301 301 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed rs1045818 19q13.42 19 54632703C> T null H Y 301 301 9.98E-4 missense 0.073 benign 0.35 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs753461421 19q13.42 19 54632706A> C null N H 302 302 missense 0.914 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764779534 19q13.42 19 54632708C> A null N K 302 302 missense 0.248 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs759119993 19q13.42 19 54632707A> G null N S 302 302 missense 0.068 benign 0.17 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs753461421 19q13.42 19 54632706A> T null N Y 302 302 missense 0.168 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs757946719 19q13.42 19 54632709C> G null L V 303 303 missense 0.071 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,gnomAD rs369922489 19q13.42 19 54632713C> T null S F 304 304 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs757286779 19q13.42 19 54632715T> C null S P 305 305 missense 0.071 benign 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192288587 19q13.42 19 54632718G> A null E K 306 306 0.002396 missense 0.027 benign 0.13 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs528298461 19q13.42 19 54632723G> A null W * 307 307 2.0E-4 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs528298461 19q13.42 19 54632723G> T null W C 307 307 2.0E-4 missense 0.315 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs528298461 19q13.42 19 54632723G> C null W C 307 307 2.0E-4 missense 0.315 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1476853617 19q13.42 19 54632721T> A null W R 307 307 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs375583070 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54632725C> A null S * 308 308 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs375583070 19q13.42 19 54632725C> T null S L 308 308 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737895 19q13.42 19 54632728C> A null A D 309 309 0.005391 missense 0.251 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737895 19q13.42 19 54632728C> T null A V 309 309 0.005391 missense 0.382 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1358880327 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.42 19 54632733A> G null S G 311 311 missense 0.594 possibly damaging 0.01 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs272423 19q13.42 19 54632735C> A null S R 311 311 0.4063 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367770060 19q13.42 19 54632736G> A null D N 312 312 2.0E-4 missense 0.538 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1399977325 19q13.42 19 54632740C> T null P L 313 313 missense 0.444 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1339065375 19q13.42 19 54632739C> T null P S 313 313 missense 0.474 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs773866222 19q13.42 19 54632742C> G null L V 314 314 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs934158944 19q13.42 19 54632746A> G null D G 315 315 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs761211353 19q13.42 19 54632745G> A null D N 315 315 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1049917138 19q13.42 19 54632751C> G null L V 317 317 missense 0.822 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737955 19q13.42 19 54632756C> G null I M 318 318 0.02276 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372158181 19q13.42 19 54632755T> A null I N 318 318 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs201552016 19q13.42 19 54632757G> A null A T 319 319 missense 0.007 benign 0.44 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1391832602 19q13.42 19 54632758C> T null A V 319 319 missense 0.197 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs758661325 19q13.42 19 54633016G> C null G A 320 320 missense 0.72 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs751157447 19q13.42 19 54632760G> A null G R 320 320 missense 0.238 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs184520604 19q13.42 19 54633020G> T null Q H 321 321 2.0E-4 missense 0.018 benign 0.23 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747364263 19q13.42 19 54633021T> A null F I 322 322 missense 0.0 benign 0.29 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1346206297 19q13.42 19 54633025A> G null Y C 323 323 missense 0.649 possibly damaging 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1343744228 19q13.42 19 54633024T> C null Y H 323 323 missense 0.003 benign 0.22 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372382780 19q13.42 19 54633028A> C null D A 324 324 missense 0.003 benign 0.5 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372382780 19q13.42 19 54633028A> G null D G 324 324 missense 0.007 benign 0.25 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs771632370 19q13.42 19 54633027G> A null D N 324 324 missense 0.197 benign 0.15 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372382780 19q13.42 19 54633028A> T null D V 324 324 missense 0.007 benign 0.35 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs746338335 19q13.42 19 54633031G> A null R K 325 325 missense 0.037 benign 0.35 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs768084929 19q13.42 19 54633032A> C null R S 325 325 missense 0.037 benign 0.3 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs746338335 19q13.42 19 54633031G> C null R T 325 325 missense 0.007 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1486166961 19q13.42 19 54633034T> C null V A 326 326 missense 0.026 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1185911260 19q13.42 19 54633033G> C null V L 326 326 missense 0.039 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs974205214 19q13.42 19 54633037C> T null S F 327 327 missense 0.011 benign 0.13 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377129222 19q13.42 19 54633039C> T null L F 328 328 missense 0.273 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377129222 19q13.42 19 54633039C> A null L I 328 328 missense 0.046 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs761425151 19q13.42 19 54633042T> G null S A 329 329 missense 0.077 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs377585616 19q13.42 19 54633043C> T null S L 329 329 missense 0.03 benign 0.1 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200440541 19q13.42 19 54633050G> T null Q H 331 331 5.99E-4 missense 0.044 benign 0.13 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1334566399 19q13.42 19 54633049A> C null Q P 331 331 missense 0.894 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1334566399 19q13.42 19 54633049A> G null Q R 331 331 missense 0.03 benign 0.17 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs367559880 19q13.42 19 54633052C> T null P L 332 332 missense 0.97 probably damaging 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs201421803 19q13.42 19 54633054G> T null G C 333 333 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1256286472 19q13.42 19 54633060A> G null T A 335 335 missense 0.46 possibly damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374617117 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633061C> T null T M 335 335 missense 0.26 benign 0.16 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs368581275 19q13.42 19 54633066G> T null A S 337 337 missense 0.251 benign 0.25 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs368581275 19q13.42 19 54633066G> A null A T 337 337 missense 0.121 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs372002933 19q13.42 19 54633067C> T null A V 337 337 missense 0.073 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76710074 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.42 19 54633070C> T null S L 338 338 0.003395 missense 0.601 possibly damaging 0.05 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs753430663 19q13.42 19 54633073G> A null G E 339 339 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs201120319 19q13.42 19 54633080C> G null N K 341 341 missense 0.321 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747657206 19q13.42 19 54633081G> C null V L 342 342 missense 0.219 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs747657206 19q13.42 19 54633081G> A null V M 342 342 missense 0.679 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs771508284 19q13.42 19 54633085C> T null T I 343 343 missense 0.8 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1341024211 19q13.42 19 54633095T> G null C W 346 346 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1231993235 19q13.42 19 54633094G> A null C Y 346 346 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1355268400 19q13.42 19 54633096C> G null Q E 347 347 missense 0.76 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs776452488 19q13.42 19 54633104G> C null Q H 349 349 missense 0.75 possibly damaging 0.14 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs776452488 19q13.42 19 54633104G> T null Q H 349 349 missense 0.75 possibly damaging 0.14 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739173 19q13.42 19 54633105G> A null G R 350 350 0.09844 missense 0.024 benign 0.31 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs763129874 19q13.42 19 54633110G> A null W * 351 351 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs765206177 19q13.42 19 54633108T> G null W G 351 351 missense 0.003 benign 0.49 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs765206177 19q13.42 19 54633108T> C null W R 351 351 missense 0.006 benign 0.74 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs765206177 19q13.42 19 54633108T> A null W R 351 351 missense 0.006 benign 0.74 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs764221410 19q13.42 19 54633116A> C null Q H 353 353 missense 0.0 benign 0.15 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1307197770 19q13.42 19 54633117A> G null T A 354 354 missense 0.086 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs751863308 19q13.42 19 54633118C> G null T S 354 354 missense 0.76 possibly damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1215162310 19q13.42 19 54633130C> T null T I 358 358 missense 0.135 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs201531812 19q13.42 19 54633129A> T null T S 358 358 missense 0.224 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1215162310 19q13.42 19 54633130C> G null T S 358 358 missense 0.224 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs12985925 19q13.42 19 54633136A> C null E A 360 360 missense 0.054 benign 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs750788865 19q13.42 19 54633139G> A null G E 361 361 missense 0.909 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs572931166 19q13.42 19 54633141G> A null A T 362 362 2.0E-4 missense 0.43 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1379026792 19q13.42 19 54633144G> C null A P 363 363 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1476862925 19q13.42 19 54633145C> T null A V 363 363 missense 0.634 possibly damaging 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs12985933 19q13.42 19 54633151A> C null D A 365 365 missense 0.0 benign 0.21 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1260040283 19q13.42 19 54633150G> T null D Y 365 365 missense 0.116 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs371963428 19q13.42 19 54633153C> T null P S 366 366 missense 0.526 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1305939141 19q13.42 19 54633157G> T null W L 367 367 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201608570 19q13.42 19 54633156T> A null W R 367 367 3.99E-4 missense 0.007 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201608570 19q13.42 19 54633156T> C null W R 367 367 3.99E-4 missense 0.007 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs746700906 19q13.42 19 54633159C> T null R C 368 368 missense 0.037 benign 0.1 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376255659 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633160G> A null R H 368 368 2.0E-4 missense 0.015 benign 0.3 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376255659 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633160G> T null R L 368 368 2.0E-4 missense 0.559 possibly damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568594877 19q13.42 19 54633162C> G null L V 369 369 missense 0.203 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1401913528 19q13.42 19 54633166G> A null R K 370 370 missense 0.006 benign 0.26 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739171 19q13.42 19 54633172C> A null T K 372 372 0.01897 missense 0.001 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739171 19q13.42 19 54633172C> T null T M 372 372 0.01897 missense 0.02 benign 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739171 19q13.42 19 54633172C> G null T R 372 372 0.01897 missense 0.034 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1363005174 19q13.42 19 54633175A> G null Y C 373 373 missense 0.015 benign 0.12 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs762944615 19q13.42 19 54633174T> C null Y H 373 373 missense 0.003 benign 0.59 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1478686108 19q13.42 19 54633177C> T null Q * 374 374 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs764311342 19q13.42 19 54633179A> C null Q H 374 374 missense 0.038 benign 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1233930006 19q13.42 19 54633178A> C null Q P 374 374 missense 0.59 possibly damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs866511691 19q13.42 19 54633181C> G null S C 375 375 missense 0.909 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs866511691 19q13.42 19 54633181C> T null S F 375 375 missense 0.056 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1419871422 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633183C> G null Q E 376 376 missense 0.116 benign 0.53 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1240220003 19q13.42 19 54633185A> T null Q H 376 376 missense 0.003 benign 0.64 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs751669782 19q13.42 19 54633191C> A null Y * 378 378 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1468046183 19q13.42 19 54633192C> T null Q * 379 379 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs761188332 19q13.42 19 54633196C> T null A V 380 380 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1349039558 19q13.42 19 54633205C> G null P R 383 383 missense 0.135 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs764825355 19q13.42 19 54633204C> T null P S 383 383 missense 0.1 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1437035232 19q13.42 19 54633207A> G null M V 384 384 missense 0.039 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372567136 19q13.42 19 54633210G> C null G R 385 385 missense 0.104 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs372567136 19q13.42 19 54633210G> A null G S 385 385 missense 0.006 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs756518809 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633225G> A null A T 390 390 missense 0.552 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs752441704 19q13.42 19 54633226C> T null A V 390 390 missense 0.191 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1371072914 19q13.42 19 54633228C> T null H Y 391 391 missense 0.275 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754370096 19q13.42 19 54633231G> T null A S 392 392 missense 0.113 benign 0.32 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377750177 19q13.42 19 54633232C> T null A V 392 392 2.0E-4 missense 0.041 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs374192029 19q13.42 19 54633235G> T null G V 393 393 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568595566 19q13.42 19 54633234G> T null G W 393 393 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs112550263 19q13.42 19 54633244G> A null R K 396 396 missense 0.933 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs762873590 cosmic curated [Cosmic]: large_intestine cosmic_study:375 19q13.42 19 54633245G> C null R S 396 396 missense 0.731 possibly damaging 0.0 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs756925421 19q13.42 19 54633250A> G null Y C 398 398 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs745453177 19q13.42 19 54633252G> T null G C 399 399 missense 0.978 probably damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs745453177 cosmic curated [Cosmic]: bone pubmed:23770606,cosmic_study:486 19q13.42 19 54633252G> A null G S 399 399 missense 0.095 benign 0.63 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199642118 19q13.42 19 54633258C> T null Q * 401 401 3.99E-4 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739176 19q13.42 19 54633260G> C null Q H 401 401 0.02915 missense 0.0 benign 0.59 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739175 19q13.42 19 54633259A> T null Q L 401 401 0.02915 missense 0.0 benign 0.71 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs386810937 19q13.42 19 54633259_54633260delinsT C null Q L 401 401 missense 0.0 benign 0.71 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61739175 19q13.42 19 54633259A> G null Q R 401 401 0.02915 missense 0.0 benign 0.39 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs774642699 19q13.42 19 54633262G> A null S N 402 402 missense 0.049 benign 0.15 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs774642699 19q13.42 19 54633262G> C null S T 402 402 missense 0.196 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs767442597 19q13.42 19 54633264T> C null S P 403 403 missense 0.952 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370519288 19q13.42 19 54633267A> G null K E 404 404 0.001398 missense 0.018 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs374987978 19q13.42 19 54633268A> T null K I 404 404 missense 0.018 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed rs61739180 19q13.42 19 54633269A> C null K N 404 404 0.04573 missense 0.0 benign 0.37 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs559118408 19q13.42 19 54633270C> T null P S 405 405 missense 0.473 possibly damaging 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754175979 19q13.42 19 54633273T> C null Y H 406 406 missense 0.191 benign 0.14 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1318822732 19q13.42 19 54633280T> C null L P 408 408 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1373391000 19q13.42 19 54633283C> T null T I 409 409 missense 0.509 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs200721963 19q13.42 19 54633282A> T null T S 409 409 missense 0.017 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs756804003 19q13.42 19 54633286A> T null H L 410 410 missense 0.009 benign 0.92 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs780528827 19q13.42 19 54633287C> A null H Q 410 410 missense 0.071 benign 0.74 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs753134549 19q13.42 19 54633285C> T null H Y 410 410 missense 0.015 benign 0.88 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs745575930 19q13.42 19 54633293T> G null S R 412 412 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200928068 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633296C> A null D E 413 413 5.99E-4 missense 0.029 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200928068 19q13.42 19 54633296C> G null D E 413 413 5.99E-4 missense 0.029 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1171595571 19q13.42 19 54633295A> G null D G 413 413 missense 0.071 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs568777126 19q13.42 19 54633304A> C null E A 416 416 2.0E-4 missense 0.76 possibly damaging 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs772220693 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 19q13.42 19 54633309G> T null V L 418 418 missense 0.066 benign 0.65 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs772220693 19q13.42 19 54633309G> A null V M 418 418 missense 0.112 benign 0.27 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs773130427 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633312G> A null V I 419 419 missense 0.449 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl,NCI-TCGA rs148543880 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21499247,cosmic_study:348 19q13.42 19 54633316C> T null S L 420 420 missense 0.615 possibly damaging 0.02 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs765935340 19q13.42 19 54633638G> C null G A 421 421 missense 0.207 benign 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs765935340 19q13.42 19 54633638G> T null G V 421 421 missense 0.426 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376284831 19q13.42 19 54633641C> T null P L 422 422 2.0E-4 missense 0.005 benign 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376284831 19q13.42 19 54633641C> G null P R 422 422 2.0E-4 missense 0.373 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs746908728 19q13.42 19 54633647G> T null G V 424 424 missense 0.476 possibly damaging 0.22 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs745419867 19q13.42 19 54633650G> T null G V 425 425 missense 0.029 benign 0.13 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1236121303 19q13.42 19 54633652C> A null P T 426 426 missense 0.273 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1413282727 19q13.42 19 54633655A> T null S C 427 427 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1300963253 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633659C> T null S F 428 428 missense 0.381 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs771021905 19q13.42 19 54633661C> G null P A 429 429 missense 0.287 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376117202 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633662C> T null P L 429 429 missense 0.279 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs376117202 19q13.42 19 54633662C> A null P Q 429 429 missense 0.307 benign 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs771021905 19q13.42 19 54633661C> A null P T 429 429 missense 0.089 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs775989146 19q13.42 19 54633665C> A null T K 430 430 missense 0.098 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs149088674 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 19q13.42 19 54633674C> A null P H 433 433 0.004593 missense 0.834 possibly damaging 0.02 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1247433195 19q13.42 19 54633673C> T null P S 433 433 missense 0.02 benign 0.29 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs774740219 19q13.42 19 54633676A> G null T A 434 434 missense 0.02 benign 0.58 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs190438944 19q13.42 19 54633677C> T null T I 434 434 2.0E-4 missense 0.011 benign 0.33 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1160925996 19q13.42 19 54633679T> C null S P 435 435 missense 0.005 benign 0.58 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1406401907 19q13.42 19 54633682A> G null T A 436 436 missense 0.023 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs766022400 19q13.42 19 54633683C> T null T I 436 436 missense 0.012 benign 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs776262835 19q13.42 19 54633686C> G null S C 437 437 missense 0.003 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs776262835 19q13.42 19 54633686C> T null S F 437 437 missense 0.246 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1477910798 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54633973G> A null G S 439 439 missense 0.976 probably damaging 0.16 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs750300858 19q13.42 19 54633979G> A null E K 441 441 missense 0.03 benign 0.19 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1223238512 19q13.42 19 54633983A> G null D G 442 442 missense 0.073 benign 0.12 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1409180064 19q13.42 19 54633985C> T null Q * 443 443 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1334631776 19q13.42 19 54633987G> C null Q H 443 443 missense 0.881 possibly damaging 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1478975942 19q13.42 19 54633986A> C null Q P 443 443 missense 0.786 possibly damaging 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs756167774 19q13.42 19 54633989C> T null P L 444 444 missense 0.02 benign 0.14 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568599033 19q13.42 19 54633994A> G null T A 446 446 missense 0.015 benign 0.33 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779482868 19q13.42 19 54633998C> A null P H 447 447 missense 0.919 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779482868 19q13.42 19 54633998C> G null P R 447 447 missense 0.817 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs755200926 19q13.42 19 54633997C> T null P S 447 447 missense 0.105 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1339085165 19q13.42 19 54634001C> T null T I 448 448 missense 0.381 benign 0.1 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1138736 19q13.42 19 54634003G> A null G R 449 449 0.1052 missense 0.031 benign 0.51 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1484974548 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 19q13.42 19 54634007C> T null S L 450 450 missense 0.062 benign 0.13 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs775034445 19q13.42 19 54634009G> C null D H 451 451 missense 0.019 benign 0.16 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs775034445 19q13.42 19 54634009G> T null D Y 451 451 missense 0.567 possibly damaging 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1194818283 19q13.42 19 54634013C> T null P L 452 452 missense 0.192 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs762570174 19q13.42 19 54634012C> T null P S 452 452 missense 0.02 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1159820441 19q13.42 19 54634015C> A null Q K 453 453 missense 0.007 benign 0.77 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs761608191 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.42 19 54634019G> A null S N 454 454 missense 0.627 possibly damaging 0.23 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs776260153 19q13.42 19 54634641G> A null G D 455 455 missense 0.447 possibly damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs200980213 19q13.42 19 54634021G> C null G R 455 455 3.99E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs200980213 19q13.42 19 54634021G> A null G S 455 455 3.99E-4 missense 0.956 probably damaging 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs745852358 19q13.42 19 54634647G> A null G E 457 457 missense 0.089 benign 0.7 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1288983113 19q13.42 19 54634650G> A null R K 458 458 missense 0.021 benign 0.93 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs368179916 19q13.42 19 54634652C> T null H Y 459 459 missense 0.03 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs1138737 19q13.42 19 54634655C> G null L V 460 460 0.07608 missense 0.81 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs750736177 19q13.42 19 54634671G> A null G D 465 465 missense 0.927 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs574281233 19q13.42 19 54634670G> A null G S 465 465 2.0E-4 missense 0.451 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs750425481 19q13.42 19 54634673A> C null I L 466 466 missense 0.037 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs756677170 19q13.42 19 54634674T> A null I N 466 466 missense 0.522 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs766879415 19q13.42 19 54634677T> C null L S 467 467 missense 0.076 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs754290121 19q13.42 19 54634682G> A null A T 469 469 missense 0.856 possibly damaging 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1159176281 19q13.42 19 54634686T> G null V G 470 470 missense 0.096 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs777111349 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 19q13.42 19 54634685G> A null V I 470 470 missense 0.102 benign 0.06 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs777111349 19q13.42 19 54634685G> C null V L 470 470 missense 0.067 benign 0.28 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed rs559763739 19q13.42 19 54634689T> A null I N 471 471 2.0E-4 missense 0.444 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs1061683 19q13.42 19 54634688A> G null I V 471 471 0.1222 missense 0.003 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1319505425 19q13.42 19 54634697C> A null L I 474 474 missense 0.782 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs769653909 19q13.42 19 54634700C> T null L F 475 475 missense 0.003 benign 0.55 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1366816142 19q13.42 19 54634703C> T null L F 476 476 missense 0.984 probably damaging 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1411259682 19q13.42 19 54634709C> A null L I 478 478 missense 0.72 possibly damaging 0.31 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs749196069 19q13.42 19 54634710T> G null L R 478 478 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs966351678 19q13.42 19 54634712C> T null L F 479 479 missense 1.0 probably damaging 0.64 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs762151710 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54634718T> C null F L 481 481 missense 0.024 benign 0.93 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs772175366 19q13.42 19 54634722T> A null L H 482 482 missense 0.967 probably damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1179464349 19q13.42 19 54634725T> C null I T 483 483 missense 0.096 benign 0.1 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376266152 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54634730C> T null R * 485 485 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs766685091 19q13.42 19 54634731G> A null R Q 485 485 missense 0.044 benign 0.16 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1394731054 19q13.42 19 54634733C> T null H Y 486 486 missense 0.012 benign 0.13 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs754376189 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54634736C> T null R * 487 487 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs760007990 19q13.42 19 54634737G> A null R Q 487 487 missense 0.013 benign 0.4 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs367994550 19q13.42 19 54634739C> T null R C 488 488 missense 0.888 possibly damaging 0.19 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs564223169 19q13.42 19 54634740G> A null R H 488 488 2.0E-4 missense 0.013 benign 0.28 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs564223169 19q13.42 19 54634740G> C null R P 488 488 2.0E-4 missense 0.872 possibly damaging 0.18 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs780713215 19q13.42 19 54634744G> C null Q H 489 489 missense 0.044 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs779961978 19q13.42 19 54634748A> C null K Q 491 491 missense 0.962 probably damaging 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376436279 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54634761C> T null S L 495 495 2.0E-4 missense 0.019 benign 0.13 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1333634148 19q13.42 19 54635107A> G null Q R 497 497 missense 0.017 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs747284687 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 19q13.42 19 54635109A> G null R G 498 498 missense 0.08 benign 0.15 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs771130051 19q13.42 19 54635110G> T null R I 498 498 missense 0.965 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs368951725 19q13.42 19 54635112A> C null K Q 499 499 missense 0.076 benign 0.31 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1365122687 19q13.42 19 54635115G> C null A P 500 500 missense 0.983 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs770139748 19q13.42 19 54635124C> T null Q * 503 503 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs770139748 19q13.42 19 54635124C> G null Q E 503 503 missense 0.688 possibly damaging 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1426612010 19q13.42 19 54635125A> C null Q P 503 503 missense 0.098 benign 0.25 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs763484018 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635134C> T null A V 506 506 missense 0.121 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs767184399 19q13.42 19 54635137G> C null G A 507 507 missense 0.067 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs772832622 19q13.42 19 54635139G> T null A S 508 508 missense 0.928 probably damaging 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs772832622 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635139G> A null A T 508 508 missense 0.728 possibly damaging 0.2 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1194885485 19q13.42 19 54635143T> C null V A 509 509 missense 0.003 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1447157676 19q13.42 19 54635142G> A null V M 509 509 missense 0.785 possibly damaging 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs753469234 19q13.42 19 54635152A> G null E G 512 512 missense 0.69 possibly damaging 0.21 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs766132479 19q13.42 19 54635151G> C null E Q 512 512 missense 0.786 possibly damaging 0.26 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs765044717 19q13.42 19 54635155C> A null P H 513 513 missense 0.947 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs765044717 19q13.42 19 54635155C> T null P L 513 513 missense 0.067 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs754755189 19q13.42 19 54635154C> T null P S 513 513 missense 0.187 benign 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs752622094 19q13.42 19 54635157A> G null T A 514 514 missense 0.061 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1172059364 19q13.42 19 54635160G> A null D N 515 515 missense 0.106 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1385784720 19q13.42 19 54635166G> C null G R 517 517 missense 0.986 probably damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs529093113 19q13.42 19 54635176G> A null W * 520 520 2.0E-4 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs777888355 19q13.42 19 54635177G> C null W C 520 520 missense 0.477 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1436568391 19q13.42 19 54635175T> G null W G 520 520 missense 0.03 benign 0.22 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1302113031 19q13.42 19 54635179G> C null R T 521 521 missense 0.614 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1205133986 19q13.42 19 54635260T> A null S T 522 522 missense 0.381 benign 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1254162905 19q13.42 19 54635263A> G null S G 523 523 missense 0.673 possibly damaging 0.14 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1180102509 19q13.42 19 54635267C> T null P L 524 524 missense 0.939 probably damaging 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1222741259 19q13.42 19 54635270C> G null A G 525 525 missense 0.059 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1407024466 19q13.42 19 54635276A> G null D G 527 527 missense 0.03 benign 0.21 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs779583013 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635275G> A null D N 527 527 missense 0.046 benign 0.22 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs534589866 19q13.42 19 54635278G> A null A T 528 528 2.0E-4 missense 0.005 benign 0.94 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1299136664 19q13.42 19 54635283G> C null Q H 529 529 missense 0.976 probably damaging 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs1568604437 19q13.42 19 54635284G> A null E K 530 530 missense 0.615 possibly damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs776187452 19q13.42 19 54635292C> A null N K 532 532 missense 0.535 possibly damaging 0.4 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1317734604 19q13.42 19 54635291A> G null N S 532 532 missense 0.053 benign 0.73 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1020655514 19q13.42 19 54635296T> C null Y H 534 534 missense 0.642 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1188387328 19q13.42 19 54635563C> T null A V 536 536 missense 0.575 possibly damaging 0.05 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1177588307 cosmic curated [Cosmic]: large_intestine cosmic_study:376 19q13.42 19 54635566T> C null V A 537 537 missense 0.412 benign 0.07 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs772962440 19q13.42 19 54635565G> A null V M 537 537 missense 0.212 benign 0.24 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs530938862 19q13.42 19 54635571C> G null H D 539 539 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1156259777 19q13.42 19 54635573C> A null H Q 539 539 missense 0.072 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs375516041 19q13.42 19 54635572A> G null H R 539 539 missense 0.085 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754156754 19q13.42 19 54635577C> T null Q * 541 541 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754156754 19q13.42 19 54635577C> G null Q E 541 541 missense 0.967 probably damaging 0.14 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs755231026 19q13.42 19 54635579G> T null Q H 541 541 missense 0.998 probably damaging 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1296679368 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635580C> T null P S 542 542 missense 0.612 possibly damaging 0.15 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61737692 cosmic curated [Cosmic]: endometrium cosmic_study:419 19q13.42 19 54635585G> C null E D 543 543 0.01098 missense 0.82 possibly damaging 0.04 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1236420698 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635586G> A null D N 544 544 missense 0.976 probably damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1276514200 19q13.42 19 54635587A> T null D V 544 544 missense 0.988 probably damaging 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs758623733 19q13.42 19 54635590G> C null G A 545 545 missense 0.041 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1216715058 19q13.42 19 54635589G> A null G R 545 545 missense 0.041 benign 0.16 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs918944070 19q13.42 19 54635592G> C null V L 546 546 missense 0.106 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs61739256 19q13.42 19 54635597G> T null E D 547 547 missense 0.492 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs199662863 19q13.42 19 54635600G> A null M I 548 548 missense 0.037 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1455921055 19q13.42 19 54635598A> C null M L 548 548 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs755681901 19q13.42 19 54635599T> C null M T 548 548 missense 0.171 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs748996182 19q13.42 19 54635605C> A null T N 550 550 missense 0.211 benign 0.14 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs748996182 19q13.42 19 54635605C> G null T S 550 550 missense 0.006 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs773925105 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54635608G> A null R Q 551 551 missense 0.013 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201106261 19q13.42 19 54635607C> T null R W 551 551 2.0E-4 missense 0.019 benign 0.26 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs916417556 19q13.42 19 54636497A> G null S G 552 552 missense 0.519 possibly damaging 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs369822175 19q13.42 19 54636505C> G null H Q 554 554 missense 0.71 possibly damaging 0.87 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs749778011 19q13.42 19 54636506G> A null D N 555 555 missense 0.047 benign 0.16 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs749778011 19q13.42 19 54636506G> T null D Y 555 555 missense 0.982 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs202036981 19q13.42 19 54636509G> A null E K 556 556 missense 0.863 possibly damaging 0.04 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1350382149 19q13.42 19 54636512G> A null D N 557 557 missense 0.929 probably damaging 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs201022583 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23104868,cosmic_study:454 19q13.42 19 54636516C> T null P L 558 558 missense 1.0 probably damaging 0.02 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs201022583 19q13.42 19 54636516C> G null P R 558 558 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs200167361 19q13.42 19 54636520G> C null Q H 559 559 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs375960208 19q13.42 19 54636528C> T null T M 562 562 missense 1.0 probably damaging 0.13 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs77680604 19q13.42 19 54636537A> C null E A 565 565 0.01378 missense 0.039 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs41308744 cosmic curated [Cosmic]: NS pubmed:22722201,cosmic_study:385 19q13.42 19 54636536G> A null E K 565 565 0.01378 missense 0.0 benign 0.09 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs41308744 19q13.42 19 54636536G> C null E Q 565 565 0.01378 missense 0.003 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1182318763 19q13.42 19 54636539G> T null V L 566 566 missense 0.412 benign 0.14 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1253516845 19q13.42 19 54636543A> G null K R 567 567 missense 0.742 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1471437826 19q13.42 19 54636546A> T null H L 568 568 missense 0.012 benign 0.12 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1471437826 19q13.42 19 54636546A> C null H P 568 568 missense 0.847 possibly damaging 0.14 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs780538983 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54636549C> T null S F 569 569 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs780538983 19q13.42 19 54636549C> A null S Y 569 569 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs200490901 19q13.42 19 54636553A> T null R S 570 570 missense 0.209 benign 0.14 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1406978054 19q13.42 19 54636555C> G null P R 571 571 missense 0.894 possibly damaging 0.19 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1007163851 19q13.42 19 54636554C> T null P S 571 571 missense 0.166 benign 0.84 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1039957233 19q13.42 19 54636558G> A null R K 572 572 missense 0.995 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,gnomAD rs746540786 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54636563G> T null E * 574 574 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs746540786 19q13.42 19 54636563G> C null E Q 574 574 missense 0.99 probably damaging 0.38 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1430455472 19q13.42 19 54636567T> A null M K 575 575 missense 0.796 possibly damaging 0.51 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1328117804 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 19q13.42 19 54636570C> T null A V 576 576 missense 0.615 possibly damaging 0.01 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC rs745478775 19q13.42 19 54636576C> G null P R 578 578 missense 0.059 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs370268778 19q13.42 19 54636578C> G null P A 579 579 missense 0.874 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1441753989 19q13.42 19 54636579C> T null P L 579 579 missense 0.207 benign 0.12 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs267605670 19q13.42 19 54636585C> T null P L 581 581 missense 0.856 possibly damaging 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs995680547 19q13.42 19 54636584C> T null P S 581 581 missense 0.379 benign 0.49 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28409473 19q13.42 19 54636594G> A null G E 584 584 0.04333 missense 0.007 benign 0.54 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs774103939 19q13.42 19 54636593G> A null G R 584 584 missense 0.543 possibly damaging 0.4 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1203418755 19q13.42 19 54636602C> G null L V 587 587 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs370996882 19q13.42 19 54636614G> A null D N 591 591 missense 0.121 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1273930622 19q13.42 19 54636618G> A null R K 592 592 missense 0.138 benign 0.22 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed rs750702853 19q13.42 19 54636624C> A null A E 594 594 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed rs750702853 19q13.42 19 54636624C> T null A V 594 594 missense 0.075 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs754257202 19q13.42 19 54636626G> A null E K 595 595 missense 0.113 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs779498070 19q13.42 19 54636633A> G null D G 597 597 missense 0.72 possibly damaging 0.21 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed,gnomAD rs199541342 19q13.42 19 54636640G> T null Q H 599 599 missense 0.967 probably damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs745583130 19q13.42 19 54636642T> G null M R 600 600 missense 0.03 benign 0.27 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1446271906 19q13.42 19 54636648C> T null T I 602 602 missense 0.962 probably damaging 0.05 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs201258189 19q13.42 19 54636732G> C null A P 604 604 2.0E-4 missense 0.037 benign 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs201258189 19q13.42 19 54636732G> A null A T 604 604 2.0E-4 missense 0.109 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1402609856 19q13.42 19 54636739C> G null A G 606 606 missense 0.041 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs759391990 19q13.42 19 54636747G> A null A T 609 609 missense 0.363 benign 0.24 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs979286427 19q13.42 19 54636748C> T null A V 609 609 missense 0.02 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1273692580 19q13.42 19 54636751C> A null P H 610 610 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs200966826 19q13.42 19 54636750C> T null P S 610 610 missense 0.111 benign 0.09 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1332741732 19q13.42 19 54636756G> A null D N 612 612 missense 0.493 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1246292065 19q13.42 19 54636762A> G null T A 614 614 missense 0.877 possibly damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201166306 19q13.42 19 54636763C> T null T I 614 614 3.99E-4 missense 0.646 possibly damaging 0.06 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201166306 19q13.42 19 54636763C> G null T S 614 614 3.99E-4 missense 0.674 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1160201254 19q13.42 19 54636766A> G null Y C 615 615 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs777882631 cosmic curated [Cosmic]: prostate cosmic_study:435 19q13.42 19 54636768G> A null A T 616 616 missense 0.987 probably damaging 0.09 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1489874416 19q13.42 19 54636773G> T null Q H 617 617 missense 0.413 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs746914203 19q13.42 19 54636772A> T null Q L 617 617 missense 0.888 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs746914203 19q13.42 19 54636772A> G null Q R 617 617 missense 0.204 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs776837939 19q13.42 19 54636779C> G null H Q 619 619 missense 0.007 benign 0.21 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs634222 19q13.42 19 54636785G> C null L F 621 621 missense 0.315 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs634222 19q13.42 19 54636785G> T null L F 621 621 missense 0.315 benign 0.08 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,gnomAD rs369673231 19q13.42 19 54636787C> T null T I 622 622 missense 0.17 benign 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1464715024 19q13.42 19 54636790T> C null L P 623 623 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs752108032 19q13.42 19 54636789C> G null L V 623 623 missense 0.99 probably damaging 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs753349590 19q13.42 19 54636796G> C null R P 625 625 missense 0.866 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs753349590 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:375 19q13.42 19 54636796G> A null R Q 625 625 missense 0.02 benign 0.87 tolerated 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs765937694 19q13.42 19 54636795C> T null R W 625 625 missense 0.046 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs16985478 19q13.42 19 54636798G> A null E K 626 626 missense 0.024 benign 0.38 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1411283200 19q13.42 19 54636799A> T null E V 626 626 missense 0.662 possibly damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs758169671 19q13.42 19 54636802C> G null A G 627 627 missense 0.024 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs777690584 19q13.42 19 54636810C> A null P T 630 630 missense 0.944 probably damaging 0.07 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs546237047 19q13.42 19 54636814C> A null P H 631 631 missense 0.993 probably damaging 0.03 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1221829910 19q13.42 19 54636817C> T null P L 632 632 missense 0.786 possibly damaging 0.29 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs201395386 19q13.42 19 54636816C> T null P S 632 632 missense 0.275 benign 0.99 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed rs562284717 19q13.42 19 54636825G> A null E K 635 635 7.99E-4 missense 0.024 benign 0.11 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed rs562284717 19q13.42 19 54636825G> C null E Q 635 635 7.99E-4 missense 0.099 benign 0.1 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ESP,ExAC,TOPMed rs371895769 19q13.42 19 54636829G> A null G E 636 636 missense 0.197 benign 0.48 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs996099779 19q13.42 19 54636828G> A null G R 636 636 missense 0.003 benign 0.3 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1047213292 19q13.42 19 54636831C> G null P A 637 637 missense 0.0 benign 0.2 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs887248063 19q13.42 19 54636832C> A null P H 637 637 missense 0.382 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1047213292 19q13.42 19 54636831C> T null P S 637 637 missense 0.026 benign 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs769871972 19q13.42 19 54636835C> G null S C 638 638 missense 0.819 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs769871972 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54636835C> T null S F 638 638 missense 0.771 possibly damaging 0.01 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1035696164 19q13.42 19 54636834T> C null S P 638 638 missense 0.003 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs775609439 19q13.42 19 54636837C> G null P A 639 639 missense 0.042 benign 0.02 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,gnomAD rs527847806 19q13.42 19 54636838C> T null P L 639 639 2.0E-4 missense 0.627 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs200208553 19q13.42 19 54636844T> A null V E 641 641 0.03734 missense 0.0 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC rs774688543 19q13.42 19 54636843G> A null V M 641 641 missense 0.382 benign 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed rs1210282785 19q13.42 19 54636846C> T null P S 642 642 missense 0.042 benign 0.17 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs758997220 19q13.42 19 54636849A> G null S G 643 643 missense 0.673 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ExAC,TOPMed,gnomAD rs200702196 19q13.42 19 54636850G> A null S N 643 643 2.0E-4 missense 0.826 possibly damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1296071899 19q13.42 19 54636852A> G null I V 644 644 missense 0.003 benign 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 TOPMed,gnomAD rs1395375851 19q13.42 19 54636857C> A null Y * 645 645 stop gained 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199564534 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 19q13.42 19 54636858G> A null A T 646 646 0.002196 missense 0.71 possibly damaging 0.04 deleterious 1 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 gnomAD rs1314681577 19q13.42 19 54636861A> G null T A 647 647 missense 0.452 possibly damaging 1.0 tolerated 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,gnomAD rs764047788 19q13.42 19 54636865T> C null L P 648 648 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs751405593 19q13.42 19 54636871T> A null I N 650 650 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 ExAC,TOPMed,gnomAD rs751405593 19q13.42 19 54636871T> C null I T 650 650 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSX8 LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 Ensembl rs865783373 19q13.42 19 54636875C> G null H Q 651 651 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1348994906 9q31.3 9 110668912A> G null E G 3 3 missense 0.46 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs762340994 cosmic curated [Cosmic]: lung cosmic_study:418 9q31.3 9 110668911G> A null E K 3 3 missense 0.46 possibly damaging 0.05 deleterious - low confidence 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs762340994 9q31.3 9 110668911G> C null E Q 3 3 missense 0.245 benign 0.06 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1230669359 9q31.3 9 110668914C> T null L F 4 4 missense 0.015 benign 0.1 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,gnomAD rs765874906 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 9q31.3 9 110668917G> A null V I 5 5 missense 0.007 benign 0.32 tolerated - low confidence 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs765874906 9q31.3 9 110668917G> C null V L 5 5 missense 0.021 benign 0.45 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs747203404 9q31.3 9 110668921A> G null N S 6 6 missense 0.095 benign 0.14 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1203437880 9q31.3 9 110668923A> C null I L 7 7 missense 0.982 probably damaging 0.07 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1257828480 9q31.3 9 110668929C> G null L V 9 9 missense 0.024 benign 0.08 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1195416883 9q31.3 9 110668933_110668934insTTTGTGTTTGATAGCATCTGTCATTTCATAGGTCAGCTTATACCATTGG C null H L 11 11 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs746254848 9q31.3 9 110668947C> A null L M 15 15 missense 0.997 probably damaging 0.02 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1425561584 9q31.3 9 110668948T> C null L P 15 15 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,gnomAD rs765521756 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary cosmic_study:331 9q31.3 9 110668950G> C null V L 16 16 missense 0.031 benign 0.12 tolerated - low confidence 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs758427621 9q31.3 9 110668962G> T null G * 20 20 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs758427621 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 9q31.3 9 110668962G> A null G R 20 20 missense 0.011 benign 0.35 tolerated - low confidence 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs747473837 9q31.3 9 110668965A> G null T A 21 21 missense 0.011 benign 1.0 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1332419631 9q31.3 9 110668978C> G null P R 25 25 missense 0.364 benign 0.26 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs56054734 pubmed:17344846 9q31.3 9 110682674C> G null A G 27 27 missense 0.991 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,gnomAD rs748900538 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 9q31.3 9 110682680T> C null V A 29 29 missense 0.117 benign 0.53 tolerated - low confidence 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1248339762 9q31.3 9 110682689C> T null T I 32 32 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1254646159 9q31.3 9 110682692C> T null P L 33 33 missense 0.497 possibly damaging 1.0 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1485024100 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110682697G> A null E K 35 35 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1187922371 9q31.3 9 110682701C> T null T I 36 36 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs745336025 9q31.3 9 110682704T> C null V A 37 37 missense 0.675 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs775587809 pubmed:24183479 9q31.3 9 110682708T> A null D E 38 38 missense 0.99 probably damaging 0.01 deleterious - low confidence 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. MIM:616325 pubmed:15496425,pubmed:19949040,pubmed:20371544,pubmed:23326516,pubmed:24183479 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1412657094 9q31.3 9 110682706G> T null D Y 38 38 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs901935734 9q31.3 9 110682713T> C null L S 40 40 missense 0.397 benign 0.05 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs760628267 9q31.3 9 110682716T> C null V A 41 41 missense 0.964 probably damaging 0.02 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs763800237 9q31.3 9 110682727G> C null A P 45 45 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1319209652 9q31.3 9 110682731C> G null T S 46 46 missense 0.996 probably damaging 0.08 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1435959892 9q31.3 9 110682739T> C null C R 49 49 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1554732832 9q31.3 9 110682749A> C null E A 52 52 missense 0.671 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs763142796 9q31.3 9 110682754T> G null Y D 54 54 missense 0.273 benign 0.25 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1310418682 9q31.3 9 110682773C> T null S F 60 60 missense 0.853 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs751680282 9q31.3 9 110682779C> T null T I 62 62 missense 0.996 probably damaging 0.12 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs751680282 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110682779C> A null T N 62 62 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs752882699 9q31.3 9 110682794T> A null L H 67 67 missense 0.424 benign 0.05 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs752882699 9q31.3 9 110682794T> C null L P 67 67 missense 0.007 benign 0.18 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1322165872 9q31.3 9 110682796A> T null I F 68 68 missense 0.387 benign 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1021042074 9q31.3 9 110687127A> G null T A 73 73 missense 0.775 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs750101214 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110687128C> T null T I 73 73 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653235 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs750101214 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110687128C> T null T I 73 73 missense 0.994 probably damaging 0.01 deleterious - low confidence 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653235 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs750101214 9q31.3 9 110687128C> A null T N 73 73 missense 0.985 probably damaging 0.08 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1021042074 9q31.3 9 110687127A> T null T S 73 73 missense 0.422 benign 0.22 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs758118087 9q31.3 9 110687131G> A null R Q 74 74 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1370203787 9q31.3 9 110687130C> T null R W 74 74 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC rs779767402 9q31.3 9 110687134A> C null Y S 75 75 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1352178393 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110687137G> A null S N 76 76 missense 0.986 probably damaging 0.13 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs547322569 9q31.3 9 110687140T> C null I T 77 77 3.99E-4 missense 0.388 benign 0.43 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs776815006 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110687143G> A null R Q 78 78 missense 0.912 probably damaging 0.35 tolerated - low confidence 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000341644,ClinVar:RCV001217123 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs776815006 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110687143G> A null R Q 78 78 missense 0.912 probably damaging 0.35 tolerated - low confidence 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV001217123 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs747987063 9q31.3 9 110687142C> T null R W 78 78 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1280539994 9q31.3 9 110687145G> A null E K 79 79 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs772926677 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 9q31.3 9 110687149A> G null N S 80 80 missense 0.003 benign 0.2 tolerated - low confidence 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000372749 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1254398960 9q31.3 9 110687160C> T null L F 84 84 missense 0.028 benign 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1203462625 9q31.3 9 110687170T> A null L Q 87 87 missense 0.993 probably damaging 0.09 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1203462625 9q31.3 9 110687170T> G null L R 87 87 missense 0.99 probably damaging 0.11 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase dbSNP,gnomAD rs1198739112 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110687169C> G null L V 87 87 missense 0.915 probably damaging 0.28 tolerated - low confidence 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000560388 A0A087WSY1 MUSK Receptor protein-tyrosine kinase dbSNP,gnomAD rs1198739112 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110687169C> G null L V 87 87 missense 0.915 probably damaging 0.28 tolerated - low confidence 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000560388 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs772270944 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110687173G> A null S N 88 88 missense 0.861 possibly damaging 0.79 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1479019030 9q31.3 9 110687174T> G null S R 88 88 missense 0.991 probably damaging 0.09 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1479019030 9q31.3 9 110687174T> A null S R 88 88 missense 0.991 probably damaging 0.09 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs926599889 9q31.3 9 110687175G> T null V L 89 89 missense 0.993 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1238167797 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110687183C> G null D E 91 91 missense 0.99 probably damaging 0.48 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1389708336 9q31.3 9 110687181G> A null D N 91 91 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1428062316 9q31.3 9 110687190G> A null D N 94 94 missense 0.303 benign 0.53 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1391803394 9q31.3 9 110687196A> T null I F 96 96 missense 0.227 benign 0.71 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs760781844 9q31.3 9 110687206G> T null C F 99 99 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35142681 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110687209C> T null T M 100 100 0.009784 missense 0.351 benign 0.09 tolerated - low confidence 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000278210,ClinVar:RCV000536711 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35142681 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110687209C> T null T M 100 100 0.009784 missense 0.351 benign 0.09 tolerated - low confidence 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000536711 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs765760347 9q31.3 9 110687212C> A null A D 101 101 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1340913424 9q31.3 9 110687216C> A null N K 102 102 missense 0.579 possibly damaging 0.38 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs551423795 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110687218A> G null N S 103 103 2.0E-4 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000202607 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs551423795 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110687218A> G null N S 103 103 2.0E-4 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000677721 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs201273265 9q31.3 9 110687221G> A null G D 104 104 2.0E-4 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1276383503 9q31.3 9 110687220G> C null G R 104 104 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1276383503 9q31.3 9 110687220G> A null G S 104 104 missense 0.996 probably damaging 0.15 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs754539657 9q31.3 9 110687227G> C null G A 106 106 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1332750833 9q31.3 9 110687229G> T null G * 107 107 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55786136 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110687230G> A null G E 107 107 0.002196 missense 0.03 benign 1.0 tolerated - low confidence 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000393598,ClinVar:RCV000537362 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55786136 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110687230G> A null G E 107 107 0.002196 missense 0.03 benign 1.0 tolerated - low confidence 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000537362 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1447789545 9q31.3 9 110687256C> A null Q K 116 116 missense 0.981 probably damaging 0.08 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC rs748123050 9q31.3 9 110687259G> A null V M 117 117 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs575256000 9q31.3 9 110687266T> A null M K 119 119 2.0E-4 missense 0.989 probably damaging 0.04 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs760483928 9q31.3 9 110695405C> G null P A 121 121 missense 0.248 benign 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs760483928 9q31.3 9 110695405C> T null P S 121 121 missense 0.558 possibly damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1473676752 9q31.3 9 110695415C> T null T I 124 124 missense 0.009 benign 0.37 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs371157090 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695417C> T null R C 125 125 missense 0.845 possibly damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000807619,ClinVar:RCV001166859 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs371157090 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695417C> T null R C 125 125 missense 0.845 possibly damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000807619 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs375737188 cosmic curated [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I, [Cosmic]: lung cosmic_study:583 9q31.3 9 110695418G> A null R H 125 125 missense 0.471 possibly damaging 0.0 deleterious 1 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653231,ClinVar:RCV001166860 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs375737188 cosmic curated [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I, [Cosmic]: lung cosmic_study:583 9q31.3 9 110695418G> A null R H 125 125 missense 0.471 possibly damaging 0.0 deleterious 1 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653231 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs375737188 [ClinVar]: Congenital myasthenic syndrome 4C, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695418G> T null R L 125 125 missense 0.314 benign 0.01 deleterious 0 Congenital myasthenic syndrome 4C (CMS4C) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:608931 pubmed:20301347,ClinVar:RCV000192613 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs375737188 [ClinVar]: Congenital myasthenic syndrome 4C, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695418G> T null R L 125 125 missense 0.314 benign 0.01 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000526130 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs375737188 [ClinVar]: Congenital myasthenic syndrome 4C, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695418G> T null R L 125 125 missense 0.314 benign 0.01 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000526130 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1455132737 9q31.3 9 110695423C> G null P A 127 127 missense 0.113 benign 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1169774445 9q31.3 9 110695430A> G null N S 129 129 missense 0.053 benign 0.07 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55980069 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695442T> C null I T 133 133 5.99E-4 missense 0.003 benign 0.29 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000312354,ClinVar:RCV001086653 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55980069 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695442T> C null I T 133 133 5.99E-4 missense 0.003 benign 0.29 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV001086653 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs570136508 9q31.3 9 110695441A> G null I V 133 133 3.99E-4 missense 0.0 benign 0.36 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs747320067 9q31.3 9 110695444G> C null E Q 134 134 missense 0.977 probably damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1005462716 9q31.3 9 110695447G> A null G R 135 135 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1223381016 9q31.3 9 110695456G> A null A T 138 138 missense 0.554 possibly damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs199586122 9q31.3 9 110695457C> T null A V 138 138 missense 0.048 benign 0.37 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs867692195 9q31.3 9 110695462C> A null L I 140 140 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1288219695 9q31.3 9 110695463T> C null L P 140 140 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs867692195 9q31.3 9 110695462C> G null L V 140 140 missense 0.963 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1327724661 9q31.3 9 110695466C> T null P L 141 141 missense 0.992 probably damaging 0.09 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs535785941 9q31.3 9 110695471A> G null T A 143 143 missense 0.0 benign 0.15 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1210600769 9q31.3 9 110695474A> G null T A 144 144 missense 0.371 benign 0.26 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1261387267 9q31.3 9 110695475C> T null T I 144 144 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs764176983 9q31.3 9 110695479G> A null M I 145 145 missense 0.752 possibly damaging 0.1 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1198911786 9q31.3 9 110695478T> C null M T 145 145 missense 0.871 possibly damaging 0.73 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs748144400 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695477A> G null M V 145 145 missense 0.752 possibly damaging 0.15 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000819879 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs748144400 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695477A> G null M V 145 145 missense 0.752 possibly damaging 0.15 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000819879 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP,gnomAD rs1476034971 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695485T> A null N K 147 147 missense 0.979 probably damaging 0.03 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000823589 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP,gnomAD rs1476034971 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695485T> A null N K 147 147 missense 0.979 probably damaging 0.03 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000823589 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs769953472 9q31.3 9 110695484A> G null N S 147 147 missense 0.212 benign 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1411055273 9q31.3 9 110695491A> C null K N 149 149 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1471566185 9q31.3 9 110695492C> T null P S 150 150 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs867514674 cosmic curated [Cosmic]: breast cosmic_study:414 9q31.3 9 110695496C> A null S * 151 151 missense 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1363853082 9q31.3 9 110695501T> A null S T 153 153 missense 0.805 possibly damaging 0.71 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs866186589 9q31.3 9 110695505G> A null W * 154 154 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1237708114 9q31.3 9 110695507A> G null I V 155 155 missense 0.005 benign 0.05 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP,gnomAD rs1048310820 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695511A> T null K M 156 156 missense 0.999 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000806841,ClinVar:RCV001166861 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP,gnomAD rs1048310820 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695511A> T null K M 156 156 missense 0.999 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000806841 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs187347916 9q31.3 9 110695512G> C null K N 156 156 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs771428174 cosmic curated [Cosmic]: lung cosmic_study:583 9q31.3 9 110695513G> A null G R 157 157 missense 0.67 possibly damaging 0.01 deleterious 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs973667318 9q31.3 9 110695518C> G null D E 158 158 missense 0.0 benign 0.6 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35176182 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency pubmed:17344846 9q31.3 9 110695519A> G null S G 159 159 0.1114 missense 0.0 benign 0.34 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000402519 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35176182 9q31.3 9 110695519A> C null S R 159 159 0.1114 missense 0.097 benign 0.49 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs534943745 9q31.3 9 110695522C> G null P A 160 160 2.0E-4 missense 0.0 benign 0.5 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1308383168 9q31.3 9 110695523C> A null P H 160 160 missense 0.223 benign 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs534943745 9q31.3 9 110695522C> T null P S 160 160 2.0E-4 missense 0.0 benign 0.08 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP,gnomAD rs1311636142 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695525C> T null L F 161 161 missense 0.714 possibly damaging 0.01 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000550759 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP,gnomAD rs1311636142 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695525C> T null L F 161 161 missense 0.714 possibly damaging 0.01 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000550759 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs752295682 9q31.3 9 110695528A> G null R G 162 162 missense 0.116 benign 0.12 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs200750233 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695530G> C null R S 162 162 missense 0.116 benign 0.1 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV001088756,ClinVar:RCV001168567 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs200750233 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110695530G> C null R S 162 162 missense 0.116 benign 0.1 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV001088756 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1414456540 9q31.3 9 110697327A> C null E D 163 163 missense 0.0 benign 0.56 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1171563328 9q31.3 9 110697325G> A null E K 163 163 missense 0.003 benign 0.82 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1349731741 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110697332C> T null S F 165 165 missense 0.015 benign 0.08 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs763656507 9q31.3 9 110697334C> T null R * 166 166 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,NCI-TCGA,TOPMed,gnomAD rs369558015 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:419 9q31.3 9 110697335G> A null R Q 166 166 missense 0.663 possibly damaging 0.02 deleterious 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs202045225 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110697338T> C null I T 167 167 9.98E-4 missense 0.007 benign 0.38 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000363040,ClinVar:RCV000865413 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs202045225 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110697338T> C null I T 167 167 9.98E-4 missense 0.007 benign 0.38 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000865413 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs767878101 9q31.3 9 110697337A> G null I V 167 167 missense 0.0 benign 0.64 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs765052433 9q31.3 9 110697340G> A null A T 168 168 missense 0.137 benign 0.52 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs750334364 9q31.3 9 110697343G> C null V L 169 169 missense 0.0 benign 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1464415453 9q31.3 9 110697347T> C null L P 170 170 missense 0.93 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1216039230 9q31.3 9 110697349G> T null E * 171 171 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1216039230 9q31.3 9 110697349G> C null E Q 171 171 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1564226661 9q31.3 9 110697355G> A null G R 173 173 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1315885352 9q31.3 9 110697359G> A null S N 174 174 missense 0.01 benign 0.5 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs779839934 9q31.3 9 110697371A> G null H R 178 178 missense 0.329 benign 0.44 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1320957563 9q31.3 9 110697370C> T null H Y 178 178 missense 0.963 probably damaging 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41279051 9q31.3 9 110697375C> A null N K 179 179 0.122 missense 0.988 probably damaging 0.11 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1554738557 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110697373A> T null N Y 179 179 missense 0.997 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000539498 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1554738557 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110697373A> T null N Y 179 179 missense 0.997 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000539498 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1468498564 9q31.3 9 110697376G> A null V I 180 180 missense 0.017 benign 0.34 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs942289974 9q31.3 9 110697379C> T null Q * 181 181 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1207568075 9q31.3 9 110697384G> C null K N 182 182 missense 0.094 benign 0.2 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1476185184 9q31.3 9 110697388G> C null D H 184 184 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs749359907 9q31.3 9 110697391G> A null A T 185 185 missense 0.003 benign 0.08 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs373304727 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110697395G> C null G A 186 186 missense 0.242 benign 0.04 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000700783 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs373304727 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110697395G> C null G A 186 186 missense 0.242 benign 0.04 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000700783 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1002666517 9q31.3 9 110697402T> G null Y * 188 188 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs542900379 9q31.3 9 110697404G> A null R Q 189 189 2.0E-4 missense 0.497 possibly damaging 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1387603022 9q31.3 9 110697406T> C null C R 190 190 missense 0.012 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs866747138 9q31.3 9 110697412G> A null A T 192 192 missense 0.202 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1564226803 9q31.3 9 110697415A> G null K E 193 193 missense 0.043 benign 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs772324297 9q31.3 9 110697417A> C null K N 193 193 missense 0.167 benign 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs746719179 9q31.3 9 110697423C> G null S R 195 195 missense 0.67 possibly damaging 0.08 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1564226827 9q31.3 9 110697424C> T null L F 196 196 missense 0.001 benign 0.34 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs768273510 9q31.3 9 110697427G> A null G R 197 197 missense 0.849 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs768273510 9q31.3 9 110697427G> T null G W 197 197 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs561525761 9q31.3 9 110697431C> T null T I 198 198 2.0E-4 missense 0.0 benign 0.45 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs371267116 9q31.3 9 110697436T> C null Y H 200 200 missense 0.663 possibly damaging 0.19 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs773036359 9q31.3 9 110697442A> G null K E 202 202 missense 0.079 benign 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1186413517 9q31.3 9 110697443A> C null K T 202 202 missense 0.201 benign 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs756442664 9q31.3 9 110697455T> C null L P 206 206 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs751393601 9q31.3 9 110697454C> G null L V 206 206 missense 0.51 possibly damaging 0.15 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1216023199 9q31.3 9 110697457G> C null E Q 207 207 missense 0.738 possibly damaging 0.28 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1273215689 9q31.3 9 110697461T> C null V A 208 208 missense 0.017 benign 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs764387006 9q31.3 9 110697460G> T null V F 208 208 missense 0.587 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs754060972 9q31.3 9 110697465G> T null E D 209 209 missense 0.137 benign 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs756953369 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110734257C> T null A V 212 212 missense 0.999 probably damaging 0.3 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000706204 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs756953369 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110734257C> T null A V 212 212 missense 0.999 probably damaging 0.3 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000706204 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1171418329 9q31.3 9 110734262A> G null I V 214 214 missense 0.992 probably damaging 0.07 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs369353843 9q31.3 9 110734268C> G null R G 216 216 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs188464904 9q31.3 9 110734269G> C null R P 216 216 2.0E-4 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs188464904 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110734269G> A null R Q 216 216 2.0E-4 missense 0.987 probably damaging 0.16 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs369353843 9q31.3 9 110734268C> T null R W 216 216 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,gnomAD rs373491066 9q31.3 9 110734272C> A null A D 217 217 missense 0.268 benign 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1307911151 9q31.3 9 110734271G> C null A P 217 217 missense 0.0 benign 0.21 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,gnomAD rs373491066 9q31.3 9 110734272C> T null A V 217 217 missense 0.041 benign 0.29 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1433126341 9q31.3 9 110734274C> T null P S 218 218 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs776278426 9q31.3 9 110734279A> T null E D 219 219 missense 0.221 benign 0.26 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1330643999 9q31.3 9 110734280T> G null S A 220 220 missense 0.952 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs940823597 9q31.3 9 110734283C> T null H Y 221 221 missense 0.168 benign 0.69 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55826142 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110734287A> G null N S 222 222 2.0E-4 missense 0.967 probably damaging 0.2 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653223,ClinVar:RCV001168571 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55826142 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110734287A> G null N S 222 222 2.0E-4 missense 0.967 probably damaging 0.2 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653223 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs774463260 cosmic curated [Cosmic]: large_intestine cosmic_study:375 9q31.3 9 110734289G> A null V I 223 223 missense 0.164 benign 0.22 tolerated 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs759633707 9q31.3 9 110734296T> G null F C 225 225 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs759633707 9q31.3 9 110734296T> A null F Y 225 225 missense 0.997 probably damaging 0.55 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs374657556 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110734302C> A null S Y 227 227 missense 0.967 probably damaging 0.01 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000817496 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs374657556 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110734302C> A null S Y 227 227 missense 0.967 probably damaging 0.01 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000817496 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1453312699 9q31.3 9 110734310A> G null T A 230 230 missense 0.037 benign 0.19 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1191319937 9q31.3 9 110734311C> A null T N 230 230 missense 0.36 benign 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1023868149 9q31.3 9 110734316C> T null H Y 232 232 missense 0.0 benign 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,TOPMed,dbSNP rs376911820 9q31.3 9 110734319T> C null C R 233 233 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1170201682 9q31.3 9 110734323C> T null T I 234 234 missense 0.003 benign 0.11 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,gnomAD rs371315297 9q31.3 9 110734325G> A null A T 235 235 missense 0.753 possibly damaging 0.17 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1283346544 9q31.3 9 110734332G> T null G V 237 237 missense 0.883 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1263670735 9q31.3 9 110734335T> C null I T 238 238 missense 0.087 benign 0.1 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1352295628 9q31.3 9 110734344C> G null P R 241 241 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1564253296 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110734343C> T null P S 241 241 missense 0.999 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000704644 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1564253296 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110734343C> T null P S 241 241 missense 0.999 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000704644 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1343010603 9q31.3 9 110734347C> A null T N 242 242 missense 0.543 possibly damaging 0.14 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs757023032 9q31.3 9 110734349A> G null I V 243 243 missense 0.017 benign 0.37 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,gnomAD rs373192504 9q31.3 9 110734353C> A null T N 244 244 missense 0.218 benign 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1276809285 9q31.3 9 110734355T> C null W R 245 245 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1372004765 9q31.3 9 110734367G> A null G R 249 249 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs750058293 9q31.3 9 110734370A> C null N H 250 250 missense 0.877 possibly damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1419144590 9q31.3 9 110747644T> C null S P 253 253 missense 0.994 probably damaging 0.2 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1216134298 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110747654C> T null S F 256 256 missense 0.843 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1359558361 9q31.3 9 110747653T> A null S T 256 256 missense 0.017 benign 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs765981650 9q31.3 9 110747656A> G null I V 257 257 missense 0.303 benign 0.67 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs751003770 9q31.3 9 110747659C> T null Q * 258 258 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs370071178 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110747663A> G null E G 259 259 9.98E-4 missense 0.986 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000817049 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs370071178 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110747663A> G null E G 259 259 9.98E-4 missense 0.986 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000817049 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs754990453 9q31.3 9 110747662G> A null E K 259 259 missense 0.98 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs754990453 9q31.3 9 110747662G> C null E Q 259 259 missense 0.994 probably damaging 0.08 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs752588646 cosmic curated [Cosmic]: central_nervous_system cosmic_study:329 9q31.3 9 110747665A> T null S C 260 260 missense 0.851 possibly damaging 0.0 deleterious 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs886063353 9q31.3 9 110747667T> G null S R 260 260 missense 0.415 benign 0.08 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs755906440 9q31.3 9 110747672A> G null K R 262 262 missense 0.968 probably damaging 0.25 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1187474550 9q31.3 9 110747675A> C null D A 263 263 missense 0.968 probably damaging 0.4 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1187474550 9q31.3 9 110747675A> G null D G 263 263 missense 0.953 probably damaging 0.52 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs777482709 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:376 9q31.3 9 110747677C> T null R * 264 264 missense 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs777482709 9q31.3 9 110747677C> G null R G 264 264 missense 0.97 probably damaging 0.18 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs193019632 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110747678G> A null R Q 264 264 2.0E-4 missense 0.926 probably damaging 0.16 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1333336708 9q31.3 9 110747680G> C null V L 265 265 missense 0.075 benign 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs184488481 9q31.3 9 110747684T> C null I T 266 266 2.0E-4 missense 0.968 probably damaging 0.07 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1418625115 9q31.3 9 110747690C> T null S L 268 268 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1157131907 9q31.3 9 110747702T> C null L P 272 272 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1157131907 9q31.3 9 110747702T> A null L Q 272 272 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs981045233 9q31.3 9 110747710A> G null T A 275 275 missense 0.967 probably damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs768744763 9q31.3 9 110747711C> T null T I 275 275 missense 0.99 probably damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs777285590 9q31.3 9 110747714A> G null K R 276 276 missense 0.024 benign 0.53 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs762353826 9q31.3 9 110747717C> T null P L 277 277 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs773708598 9q31.3 9 110747720G> A null G E 278 278 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1222717103 9q31.3 9 110747726A> G null Y C 280 280 missense 0.786 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs977371051 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110747725T> C null Y H 280 280 missense 0.649 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1279428295 9q31.3 9 110747728A> G null T A 281 281 missense 0.998 probably damaging 0.1 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1281615771 9q31.3 9 110747729C> T null T I 281 281 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs762707937 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 9q31.3 9 110747733C> A null C * 282 282 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs765924399 9q31.3 9 110747734A> G null I V 283 283 missense 0.826 possibly damaging 0.64 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1315530629 9q31.3 9 110747737G> C null A P 284 284 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1484918797 9q31.3 9 110747738C> T null A V 284 284 missense 0.999 probably damaging 0.09 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs368709956 9q31.3 9 110747741C> G null T S 285 285 missense 0.028 benign 0.4 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs747154421 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110747744A> G null N S 286 286 missense 0.998 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000264970,ClinVar:RCV001036501 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs747154421 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110747744A> G null N S 286 286 missense 0.998 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV001036501 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1410344499 9q31.3 9 110747755G> T null E * 290 290 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs752641780 9q31.3 9 110747759A> G null K R 291 291 missense 0.003 benign 0.4 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1416891382 9q31.3 9 110747762T> G null F C 292 292 missense 0.485 possibly damaging 0.08 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1374577863 9q31.3 9 110747776G> T null A S 297 297 missense 0.999 probably damaging 0.09 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs777607209 9q31.3 9 110747783C> G null A G 299 299 missense 0.492 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1554749322 9q31.3 9 110747786C> T null T I 300 300 missense 0.99 probably damaging 0.32 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1554749322 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110747786C> A null T N 300 300 missense 0.984 probably damaging 0.17 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653234 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1554749322 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110747786C> A null T N 300 300 missense 0.984 probably damaging 0.17 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653234 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1192511364 9q31.3 9 110747794A> G null I V 303 303 missense 0.003 benign 1.0 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP,gnomAD rs1319203200 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110762204T> G null W G 306 306 missense 0.073 benign 0.16 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000689156 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP,gnomAD rs1319203200 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110762204T> G null W G 306 306 missense 0.073 benign 0.16 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000689156 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1319203200 9q31.3 9 110762204T> C null W R 306 306 missense 0.003 benign 0.21 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs201804790 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110767828A> C null Q P 310 310 missense 0.003 benign 0.22 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000685702,ClinVar:RCV001169341 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs201804790 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110767828A> C null Q P 310 310 missense 0.003 benign 0.22 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000685702 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1391191595 9q31.3 9 110767830A> G null K E 311 311 missense 0.007 benign 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1187628269 9q31.3 9 110767832A> C null K N 311 311 missense 0.306 benign 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,NCI-TCGA,TOPMed rs376831940 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110767833G> A null D N 312 312 missense 0.127 benign 0.16 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1362784498 9q31.3 9 110767834A> T null D V 312 312 missense 0.283 benign 0.09 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs756266862 9q31.3 9 110767836A> T null N Y 313 313 missense 0.412 benign 0.05 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs749815609 9q31.3 9 110767843G> A null G D 315 315 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs757775674 9q31.3 9 110767845T> C null Y H 316 316 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1311522447 9q31.3 9 110767850C> G null C W 317 317 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1453555713 9q31.3 9 110767849G> A null C Y 317 317 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369023786 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110767851G> A null A T 318 318 missense 0.003 benign 0.1 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1306377389 9q31.3 9 110767856G> T null Q H 319 319 missense 0.17 benign 0.17 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1241422627 9q31.3 9 110767860A> G null R G 321 321 missense 0.08 benign 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1449532775 9q31.3 9 110767863G> A null G R 322 322 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs775131984 9q31.3 9 110767869G> T null V L 324 324 missense 0.005 benign 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs776201930 9q31.3 9 110767878G> A null A T 327 327 missense 0.0 benign 0.53 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs761698956 9q31.3 9 110767888C> G null A G 330 330 missense 0.304 benign 0.4 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1200923498 9q31.3 9 110767896G> T null A S 333 333 missense 0.003 benign 0.5 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1416816371 9q31.3 9 110767897C> T null A V 333 333 missense 0.087 benign 0.22 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs373175897 9q31.3 9 110767913C> A null N K 338 338 missense 0.643 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs769749384 9q31.3 9 110767912A> G null N S 338 338 missense 0.109 benign 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1367412921 9q31.3 9 110767921A> G null Y C 341 341 missense 0.988 probably damaging 0.09 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs867394741 9q31.3 9 110767920T> C null Y H 341 341 missense 0.178 benign 0.32 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs375762569 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110767924C> T null A V 342 342 2.0E-4 missense 0.001 benign 0.15 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000555750 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs375762569 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110767924C> T null A V 342 342 2.0E-4 missense 0.001 benign 0.15 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000555750 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1466975443 cosmic curated [Cosmic]: liver cosmic_study:323 9q31.3 9 110767926G> T null D Y 343 343 missense 0.879 possibly damaging 0.05 tolerated 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs387906803 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency pubmed:19949040 pubmed:19949040 9q31.3 9 110767930C> G null P R 344 344 missense 0.969 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000023093 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs387906803 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency pubmed:19949040 pubmed:19949040 9q31.3 9 110767930C> G null P R 344 344 missense 0.969 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. MIM:616325 pubmed:15496425,pubmed:19949040,pubmed:20371544,pubmed:23326516,pubmed:24183479 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs764142979 9q31.3 9 110767937G> T null E D 346 346 missense 0.0 benign 0.57 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs764142979 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110767937G> C null E D 346 346 missense 0.0 benign 0.57 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653224 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs764142979 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110767937G> C null E D 346 346 missense 0.0 benign 0.57 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653224 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,TOPMed,gnomAD rs373788285 9q31.3 9 110767935G> A null E K 346 346 missense 0.003 benign 0.58 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs753919630 9q31.3 9 110767954T> C null V A 352 352 missense 0.009 benign 0.28 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1365571546 9q31.3 9 110767953G> A null V I 352 352 missense 0.009 benign 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs201791900 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110767956C> A null H N 353 353 missense 0.34 benign 0.34 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000816090 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs201791900 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110767956C> A null H N 353 353 missense 0.34 benign 0.34 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000816090 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs200064775 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110767960C> T null T M 354 354 missense 0.579 possibly damaging 0.06 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000695873 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs200064775 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110767960C> T null T M 354 354 missense 0.579 possibly damaging 0.06 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000695873 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs758777519 9q31.3 9 110767962G> A null A T 355 355 missense 0.088 benign 0.4 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs780387236 9q31.3 9 110767966G> A null W * 356 356 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs780387236 9q31.3 9 110767966G> C null W S 356 356 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1199997870 9q31.3 9 110767968A> G null N D 357 357 missense 0.0 benign 0.65 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs199891500 9q31.3 9 110767970T> G null N K 357 357 missense 0.031 benign 0.9 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1038479586 9q31.3 9 110767999G> A null R Q 367 367 missense 0.003 benign 0.25 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201014623 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 9q31.3 9 110767998C> T null R W 367 367 3.99E-4 missense 0.86 possibly damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000379468 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP rs768323977 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 9q31.3 9 110768001C> T null P S 368 368 missense 0.417 benign 0.18 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000260967 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs780616845 9q31.3 9 110768004G> C null A P 369 369 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs975514015 9q31.3 9 110768014C> A null A D 372 372 missense 0.979 probably damaging 0.17 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs957660061 9q31.3 9 110768013G> A null A T 372 372 missense 0.65 possibly damaging 0.34 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs747717789 9q31.3 9 110768018G> T null L F 373 373 missense 0.42 benign 0.05 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs773285595 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110768027C> A null N K 376 376 missense 0.103 benign 0.21 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000531804 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs773285595 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110768027C> A null N K 376 376 missense 0.103 benign 0.21 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000531804 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1249712263 9q31.3 9 110768037C> A null Q K 380 380 missense 0.117 benign 0.11 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1226695352 9q31.3 9 110768040G> T null E * 381 381 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1393891388 9q31.3 9 110768043T> C null C R 382 382 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1438959250 9q31.3 9 110768044G> A null C Y 382 382 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,dbSNP,gnomAD rs571312240 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110768047G> T null S I 383 383 2.0E-4 missense 0.001 benign 0.04 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653228 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,dbSNP,gnomAD rs571312240 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110768047G> T null S I 383 383 2.0E-4 missense 0.001 benign 0.04 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653228 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs770907001 9q31.3 9 110768058G> T null V L 387 387 missense 0.0 benign 0.58 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs770907001 9q31.3 9 110768058G> A null V M 387 387 missense 0.003 benign 0.22 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs921440607 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 9q31.3 9 110768061C> T null P S 388 388 missense 0.025 benign 0.08 tolerated 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1403543378 9q31.3 9 110768064A> G null T A 389 389 missense 0.0 benign 0.98 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs774282945 9q31.3 9 110768074C> A null P H 392 392 missense 0.879 possibly damaging 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs760844052 9q31.3 9 110768080G> T null C F 394 394 missense 0.934 probably damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1305681466 9q31.3 9 110768079T> G null C G 394 394 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs974076801 9q31.3 9 110775794C> G null Y * 397 397 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs79843573 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110775792T> C null Y H 397 397 0.005591 missense 0.031 benign 1.0 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000316740,ClinVar:RCV000544045 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs79843573 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110775792T> C null Y H 397 397 0.005591 missense 0.031 benign 1.0 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000544045 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1304458978 9q31.3 9 110775804G> A null V I 401 401 missense 0.987 probably damaging 0.07 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1304458978 9q31.3 9 110775804G> C null V L 401 401 missense 0.987 probably damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1217825247 9q31.3 9 110775811A> T null E V 403 403 missense 0.799 possibly damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1484974390 9q31.3 9 110775818C> A null F L 405 405 missense 0.332 benign 0.11 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs368395413 9q31.3 9 110775821C> A null C * 406 406 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1212909353 9q31.3 9 110775820G> C null C S 406 406 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs867005027 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 9q31.3 9 110775822G> A null A T 407 407 missense 0.214 benign 0.29 tolerated 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1469711288 9q31.3 9 110775823C> T null A V 407 407 missense 0.228 benign 0.4 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs372316254 9q31.3 9 110775825A> G null K E 408 408 missense 0.0 benign 0.09 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,gnomAD rs190208059 9q31.3 9 110775826A> G null K R 408 408 2.0E-4 missense 0.0 benign 0.16 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs751972431 9q31.3 9 110775833G> A null W * 410 410 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs751972431 9q31.3 9 110775833G> C null W C 410 410 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC rs755376495 9q31.3 9 110775838T> G null V G 412 412 missense 0.012 benign 0.31 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2274419 cosmic curated [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [Cosmic]: large_intestine pubmed:17344846 cosmic_study:376 9q31.3 9 110775842G> A null M I 413 413 0.1004 missense 0.0 benign 0.62 tolerated 1 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000375969 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs930182416 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110775841T> C null M T 413 413 missense 0.029 benign 0.06 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653230 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs930182416 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110775841T> C null M T 413 413 missense 0.029 benign 0.06 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653230 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1159007561 9q31.3 9 110775840A> G null M V 413 413 missense 0.0 benign 0.11 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs891246258 9q31.3 9 110775845A> C null E D 414 414 missense 0.814 possibly damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs752450976 9q31.3 9 110775843G> A null E K 414 414 missense 0.533 possibly damaging 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs558259191 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110775848G> C null E D 415 415 missense 0.007 benign 0.39 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000556439 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs558259191 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110775848G> C null E D 415 415 missense 0.007 benign 0.39 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000556439 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1554754129 9q31.3 9 110775846G> A null E K 415 415 missense 0.182 benign 0.24 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs538655454 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 9q31.3 9 110775853C> T null T I 417 417 3.99E-4 missense 0.0 benign 0.2 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000281406 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs538655454 9q31.3 9 110775853C> A null T N 417 417 3.99E-4 missense 0.0 benign 0.46 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs550568354 9q31.3 9 110775860A> C null R S 419 419 2.0E-4 missense 0.089 benign 0.15 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs373421409 9q31.3 9 110775862G> A null G E 420 420 2.0E-4 missense 0.074 benign 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1452268407 9q31.3 9 110775868A> G null Y C 422 422 missense 0.459 possibly damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1303090255 9q31.3 9 110775867T> C null Y H 422 422 missense 0.003 benign 0.14 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs924372542 9q31.3 9 110775871G> C null R T 423 423 missense 0.007 benign 0.24 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,gnomAD rs745722798 cosmic curated [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23525077,cosmic_study:464 9q31.3 9 110775876G> A null E K 425 425 missense 0.007 benign 0.45 tolerated 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs368044285 9q31.3 9 110775880T> C null M T 426 426 missense 0.001 benign 0.77 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs751266636 9q31.3 9 110775882C> G null H D 427 427 missense 0.061 benign 0.2 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs934290147 9q31.3 9 110775891T> C null S P 430 430 missense 0.0 benign 0.19 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372013406 9q31.3 9 110775894G> C null V L 431 431 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs372013406 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 9q31.3 9 110775894G> A null V M 431 431 2.0E-4 missense 0.003 benign 0.08 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000350489 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,TOPMed rs374954692 9q31.3 9 110775898C> T null P L 432 432 missense 0.086 benign 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes rs555968361 9q31.3 9 110775916C> T null P L 438 438 2.0E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs932883095 9q31.3 9 110775915C> T null P S 438 438 missense 0.957 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs932883095 9q31.3 9 110775915C> A null P T 438 438 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1050033518 9q31.3 9 110775919G> C null S T 439 439 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1174184253 9q31.3 9 110775932C> A null D E 443 443 missense 0.0 benign 0.19 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1476938314 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110775931A> G null D G 443 443 missense 0.0 benign 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,gnomAD rs774934168 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110775933C> T null P S 444 444 missense 0.468 possibly damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1000792918 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110775937C> T null T M 445 445 missense 0.0 benign 0.14 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1167912262 9q31.3 9 110775942T> C null C R 447 447 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs767990859 9q31.3 9 110775945G> C null A P 448 448 missense 0.127 benign 0.16 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs767990859 9q31.3 9 110775945G> A null A T 448 448 missense 0.0 benign 1.0 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1167321143 9q31.3 9 110775961T> G null L R 453 453 missense 0.493 possibly damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs202239254 9q31.3 9 110775963G> C null A P 454 454 2.0E-4 missense 0.0 benign 0.27 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs202239254 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110775963G> A null A T 454 454 2.0E-4 missense 0.0 benign 0.85 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653226 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs202239254 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110775963G> A null A T 454 454 2.0E-4 missense 0.0 benign 0.85 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653226 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1483512600 9q31.3 9 110784817T> C null F L 455 455 missense 0.287 benign 0.1 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs982569286 9q31.3 9 110784824C> T null P L 457 457 missense 0.07 benign 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs982569286 9q31.3 9 110784824C> A null P Q 457 457 missense 0.251 benign 0.05 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs769212099 9q31.3 9 110784828G> T null M I 458 458 missense 0.003 benign 0.56 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs777107917 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Pena-Shokeir syndrome type I cosmic_study:376 9q31.3 9 110784830C> T null T M 459 459 missense 0.019 benign 0.14 tolerated 1 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000705956 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs777107917 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Pena-Shokeir syndrome type I cosmic_study:376 9q31.3 9 110784830C> T null T M 459 459 missense 0.019 benign 0.14 tolerated 1 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000705956 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1253803059 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 9q31.3 9 110784845G> T null S I 464 464 missense 0.782 possibly damaging 0.12 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1443675686 9q31.3 9 110784848T> A null V E 465 465 missense 0.268 benign 0.25 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1383155825 9q31.3 9 110784852C> G null D E 466 466 missense 0.071 benign 0.54 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1009648266 9q31.3 9 110784850G> A null D N 466 466 missense 0.836 possibly damaging 0.15 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs762375601 cosmic curated [Cosmic]: lung cosmic_study:583 9q31.3 9 110784857C> A null P Q 468 468 missense 1.0 probably damaging 0.02 deleterious 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1381363810 9q31.3 9 110784865C> T null P S 471 471 missense 0.011 benign 0.07 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1434620759 9q31.3 9 110784872C> G null S C 473 473 missense 0.828 possibly damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1320924092 9q31.3 9 110784875C> G null S C 474 474 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs751557512 9q31.3 9 110784874T> C null S P 474 474 missense 0.998 probably damaging 0.22 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1402697571 9q31.3 9 110784877T> C null S P 475 475 missense 0.251 benign 0.19 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1374931787 9q31.3 9 110784890C> T null S F 479 479 missense 0.336 benign 0.14 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs767339099 9q31.3 9 110784889T> C null S P 479 479 missense 0.0 benign 0.32 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1345123857 9q31.3 9 110784892G> T null V F 480 480 missense 0.007 benign 0.59 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1161905783 9q31.3 9 110784895T> C null S P 481 481 missense 0.632 possibly damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs147724994 9q31.3 9 110784899C> G null P R 482 482 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs771031640 9q31.3 9 110784898C> T null P S 482 482 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs779031081 9q31.3 9 110784908C> T null S F 485 485 missense 0.921 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs368165176 9q31.3 9 110784907T> C null S P 485 485 missense 0.024 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1483916013 9q31.3 9 110784914C> T null T I 487 487 missense 0.999 probably damaging 0.05 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs746031604 9q31.3 9 110784913A> T null T S 487 487 missense 0.995 probably damaging 0.33 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs534659328 9q31.3 9 110784929T> A null I N 492 492 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs371738469 9q31.3 9 110784928A> G null I V 492 492 missense 0.982 probably damaging 0.35 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1200523959 9q31.3 9 110784933G> T null M I 493 493 missense 0.003 benign 1.0 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1564290813 cosmic curated [Cosmic]: liver cosmic_study:322 9q31.3 9 110784932T> C null M T 493 493 missense 0.087 benign 0.04 deleterious 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs191581729 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110784946A> G null I V 498 498 missense 0.0 benign 0.96 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000386234,ClinVar:RCV000823351 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs191581729 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110784946A> G null I V 498 498 missense 0.0 benign 0.96 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000823351 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs769267043 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 9q31.3 9 110784952G> A null V M 500 500 missense 0.412 benign 0.02 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000296540 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,NCI-TCGA,gnomAD rs201639582 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110784958C> T null L F 502 502 2.0E-4 missense 0.073 benign 0.23 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs201639582 9q31.3 9 110784958C> A null L I 502 502 2.0E-4 missense 0.615 possibly damaging 0.08 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes rs201499788 9q31.3 9 110784964A> G null I V 504 504 missense 0.003 benign 0.16 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs770129857 9q31.3 9 110784968C> A null T N 505 505 missense 0.138 benign 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1379894331 9q31.3 9 110784970A> G null T A 506 506 missense 0.003 benign 0.75 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1467052958 9q31.3 9 110784971C> T null T I 506 506 missense 0.003 benign 0.65 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1379894331 9q31.3 9 110784970A> C null T P 506 506 missense 0.339 benign 0.11 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1554755295 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110784973C> G null L V 507 507 missense 0.275 benign 0.1 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000545260 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1554755295 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110784973C> G null L V 507 507 missense 0.275 benign 0.1 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000545260 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs765869653 9q31.3 9 110784977A> G null Y C 508 508 missense 0.919 probably damaging 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs773818596 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:21798893,cosmic_study:349 9q31.3 9 110784986G> A null R Q 511 511 missense 0.997 probably damaging 0.1 tolerated 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1324678963 9q31.3 9 110785012A> G null K E 520 520 missense 0.358 benign 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs776545636 9q31.3 9 110785013A> C null K T 520 520 missense 0.46 possibly damaging 0.07 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs767464034 9q31.3 9 110785016G> A null R K 521 521 missense 0.024 benign 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1267578054 9q31.3 9 110785530A> T null E D 522 522 missense 0.474 possibly damaging 0.22 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs762016996 9q31.3 9 110785535C> A null A E 524 524 missense 0.557 possibly damaging 0.76 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs759077822 9q31.3 9 110785538C> G null A G 525 525 missense 0.478 possibly damaging 0.21 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs759077822 9q31.3 9 110785538C> T null A V 525 525 missense 0.393 benign 0.12 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs368698989 9q31.3 9 110785544C> T null T I 527 527 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1292544213 9q31.3 9 110785547T> A null L H 528 528 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs372082767 9q31.3 9 110785546C> G null L V 528 528 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs753647097 9q31.3 9 110785550C> T null T I 529 529 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs753647097 9q31.3 9 110785550C> G null T S 529 529 missense 0.995 probably damaging 0.39 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs928134595 9q31.3 9 110785553C> G null T R 530 530 missense 0.9 possibly damaging 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1425068553 9q31.3 9 110785558C> T null P S 532 532 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1314836666 9q31.3 9 110785564G> A null E K 534 534 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs761470115 9q31.3 9 110785574T> C null L P 537 537 missense 0.93 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs761470115 9q31.3 9 110785574T> G null L R 537 537 missense 0.9 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs755122787 9q31.3 9 110785580G> T null R I 539 539 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs375184468 9q31.3 9 110785582C> T null L F 540 540 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs865907539 9q31.3 9 110785585C> T null H Y 541 541 missense 0.5 possibly damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1226207815 9q31.3 9 110785588C> T null P S 542 542 missense 0.575 possibly damaging 0.19 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1430558547 9q31.3 9 110785599G> A null M I 545 545 missense 0.98 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1198992734 9q31.3 9 110785598T> C null M T 545 545 missense 0.98 probably damaging 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs753213086 9q31.3 9 110785597A> G null M V 545 545 missense 0.968 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs756610821 9q31.3 9 110785610T> C null M T 549 549 missense 0.98 probably damaging 0.45 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs369745938 9q31.3 9 110785613C> T null P L 550 550 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs369745938 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110785613C> G null P R 550 550 missense 1.0 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000557353 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs369745938 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110785613C> G null P R 550 550 missense 1.0 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000557353 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs867596271 cosmic curated [Cosmic]: prostate cosmic_study:435 9q31.3 9 110785612C> T null P S 550 550 missense 0.999 probably damaging 0.09 tolerated 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1163885675 9q31.3 9 110785616T> C null L P 551 551 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs778537975 9q31.3 9 110785627C> A null P T 555 555 missense 0.999 probably damaging 0.05 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1184744541 9q31.3 9 110785631A> G null K R 556 556 missense 0.997 probably damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs200787064 9q31.3 9 110785633T> A null L M 557 557 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs200787064 9q31.3 9 110785633T> G null L V 557 557 3.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs776396098 9q31.3 9 110785641C> G null S R 559 559 missense 0.557 possibly damaging 0.15 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,gnomAD rs369090684 9q31.3 9 110785647G> T null E D 561 561 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1378295933 9q31.3 9 110785651C> G null P A 563 563 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1378295933 9q31.3 9 110785651C> A null P T 563 563 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1205413597 9q31.3 9 110785654A> G null R G 564 564 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1358028791 9q31.3 9 110785661A> G null N S 566 566 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs751889864 9q31.3 9 110785664T> A null I N 567 567 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs751889864 [UniProt]: reduces agrin-dependent AChR aggregation and tyrosine kinase activity in developing neuromuscular junction, [ClinVar]: Pena-Shokeir syndrome type I pubmed:25537362 pubmed:25537362 9q31.3 9 110785664T> C null I T 567 567 missense 0.996 probably damaging 0.0 deleterious 0 Fetal akinesia deformation sequence 1 (FADS1) A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS1 inheritance is autosomal recessive. MIM:208150 pubmed:25537362,pubmed:25612909 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs751889864 [UniProt]: reduces agrin-dependent AChR aggregation and tyrosine kinase activity in developing neuromuscular junction, [ClinVar]: Pena-Shokeir syndrome type I pubmed:25537362 pubmed:25537362 9q31.3 9 110785664T> C null I T 567 567 missense 0.996 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000170588 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1445178162 9q31.3 9 110785663A> G null I V 567 567 missense 0.982 probably damaging 0.11 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs767748258 9q31.3 9 110785667A> G null E G 568 568 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs752798426 9q31.3 9 110785675A> T null R * 571 571 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1564291603 9q31.3 9 110785682T> C null I T 573 573 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs202126269 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110785684G> A null G R 574 574 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs754231881 9q31.3 9 110785688A> C null E A 575 575 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1278541714 9q31.3 9 110785689G> C null E D 575 575 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs953823198 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110785694C> A null A E 577 577 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs779231840 9q31.3 9 110785693G> A null A T 577 577 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP,gnomAD rs953823198 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110785694C> T null A V 577 577 missense 0.998 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000689632 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP,gnomAD rs953823198 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110785694C> T null A V 577 577 missense 0.998 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000689632 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs771679900 9q31.3 9 110785697T> G null F C 578 578 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs771679900 9q31.3 9 110785697T> C null F S 578 578 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs746563484 9q31.3 9 110785703G> A null R K 580 580 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1010626190 9q31.3 9 110785709T> C null F S 582 582 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs963155772 9q31.3 9 110787691G> A null A T 586 586 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs993238186 9q31.3 9 110787692C> T null A V 586 586 missense 0.998 probably damaging 0.05 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs202004848 9q31.3 9 110787694C> A null P T 587 587 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1188897958 9q31.3 9 110787704T> C null L P 590 590 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs749123073 9q31.3 9 110787707C> T null P L 591 591 missense 0.839 possibly damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs760793449 9q31.3 9 110787710A> G null Y C 592 592 missense 0.0 benign 0.17 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs147562871 9q31.3 9 110787709T> C null Y H 592 592 2.0E-4 missense 0.007 benign 0.53 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs147562871 9q31.3 9 110787709T> A null Y N 592 592 2.0E-4 missense 0.169 benign 0.3 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1449686763 9q31.3 9 110787712G> A null E K 593 593 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1449686763 9q31.3 9 110787712G> C null E Q 593 593 missense 0.998 probably damaging 0.07 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs776660528 9q31.3 9 110787716C> T null P L 594 594 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs565780053 9q31.3 9 110787715C> T null P S 594 594 2.0E-4 missense 0.999 probably damaging 0.38 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs765765906 9q31.3 9 110787718T> C null F L 595 595 missense 0.07 benign 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs766640370 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [UniProt]: affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering pubmed:20371544 pubmed:20371544 9q31.3 9 110787726G> A null M I 597 597 missense 0.98 probably damaging 0.08 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000054417 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs766640370 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [UniProt]: affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering pubmed:20371544 pubmed:20371544 9q31.3 9 110787726G> A null M I 597 597 missense 0.98 probably damaging 0.08 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. MIM:616325 pubmed:15496425,pubmed:19949040,pubmed:20371544,pubmed:23326516,pubmed:24183479 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs758777089 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110787724A> T null M L 597 597 missense 0.924 probably damaging 0.36 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000526715 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs758777089 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110787724A> T null M L 597 597 missense 0.924 probably damaging 0.36 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000526715 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs758777089 9q31.3 9 110787724A> G null M V 597 597 missense 0.968 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1304218373 9q31.3 9 110787740T> G null M R 602 602 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs751296377 9q31.3 9 110787743T> C null L P 603 603 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1564293633 9q31.3 9 110787742C> G null L V 603 603 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1398742211 9q31.3 9 110787745A> T null K * 604 604 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs754559098 9q31.3 9 110787752A> C null E A 606 606 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs868674554 9q31.3 9 110787751G> A null E K 606 606 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs181652070 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110787758C> T null S L 608 608 3.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653232 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs181652070 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110787758C> T null S L 608 608 3.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653232 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs755642035 9q31.3 9 110787767T> C null M T 611 611 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs777853943 9q31.3 9 110787773C> A null A E 613 613 missense 0.999 probably damaging 0.61 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1353924755 9q31.3 9 110787772G> A null A T 613 613 missense 0.998 probably damaging 0.37 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs777853943 9q31.3 9 110787773C> T null A V 613 613 missense 0.998 probably damaging 0.28 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP rs1292312575 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110787776A> T null D V 614 614 missense 0.937 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000551332 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP rs1292312575 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110787776A> T null D V 614 614 missense 0.937 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000551332 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs747293813 9q31.3 9 110787787G> C null E Q 618 618 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs569529834 9q31.3 9 110787791C> G null A G 619 619 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1447104944 9q31.3 9 110787790G> C null A P 619 619 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs776795823 9q31.3 9 110787793G> C null A P 620 620 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs776795823 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110787793G> A null A T 620 620 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1473606990 9q31.3 9 110787794C> T null A V 620 620 missense 0.998 probably damaging 0.05 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs34267283 pubmed:17344846 9q31.3 9 110787796C> T null L F 621 621 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1380130572 9q31.3 9 110787801G> A null M I 622 622 missense 0.98 probably damaging 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs769807910 9q31.3 9 110787806A> T null E V 624 624 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1161007370 9q31.3 9 110787809T> C null F S 625 625 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1385682278 9q31.3 9 110787822C> A null N K 629 629 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs370413759 9q31.3 9 110787823A> C null I L 630 630 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1438744692 9q31.3 9 110787824T> C null I T 630 630 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs370413759 9q31.3 9 110787823A> G null I V 630 630 missense 0.982 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs766810675 9q31.3 9 110787826G> A null V M 631 631 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs751851038 9q31.3 9 110787836T> C null L S 634 634 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41279055 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110800309T> C null V A 636 636 0.001797 missense 0.995 probably damaging 0.01 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000306389,ClinVar:RCV001081301 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41279055 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110800309T> C null V A 636 636 0.001797 missense 0.995 probably damaging 0.01 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV001081301 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs749361502 9q31.3 9 110800314G> T null A S 638 638 missense 0.998 probably damaging 0.05 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1315654193 9q31.3 9 110800321G> A null G E 640 640 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs201291910 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800320G> A null G R 640 640 missense 0.966 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000547706,ClinVar:RCV001168650 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs201291910 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800320G> A null G R 640 640 missense 0.966 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000547706 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1252199058 9q31.3 9 110800323A> G null K E 641 641 missense 0.028 benign 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs746369227 9q31.3 9 110800326C> T null P S 642 642 missense 0.492 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs746369227 9q31.3 9 110800326C> A null P T 642 642 missense 0.575 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs775965812 9q31.3 9 110800331G> A null M I 643 643 missense 0.028 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs199811263 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800329A> C null M L 643 643 2.0E-4 missense 0.0 benign 0.05 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000691383 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs199811263 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800329A> C null M L 643 643 2.0E-4 missense 0.0 benign 0.05 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000691383 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1002060335 9q31.3 9 110800330T> C null M T 643 643 missense 0.066 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199811263 9q31.3 9 110800329A> G null M V 643 643 2.0E-4 missense 0.029 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP rs373498353 9q31.3 9 110800344G> C null E Q 648 648 missense 0.724 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs760452360 9q31.3 9 110800347T> C null Y H 649 649 missense 0.899 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1055882094 9q31.3 9 110800350A> G null M V 650 650 missense 0.237 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs763859844 9q31.3 9 110800353G> A null A T 651 651 missense 0.724 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs546085799 9q31.3 9 110800357A> G null Y C 652 652 missense 0.851 possibly damaging 0.08 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55963442 9q31.3 9 110800369A> T null N I 656 656 0.007588 missense 0.9 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55963442 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110800369A> G null N S 656 656 0.007588 missense 0.474 possibly damaging 0.05 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000528281,ClinVar:RCV001168651 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55963442 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110800369A> G null N S 656 656 0.007588 missense 0.474 possibly damaging 0.05 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000528281 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55963442 9q31.3 9 110800369A> C null N T 656 656 0.007588 missense 0.724 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC rs191497026 9q31.3 9 110800372A> C null E A 657 657 2.0E-4 missense 0.017 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1364426411 9q31.3 9 110800376C> G null F L 658 658 missense 0.412 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs368783049 9q31.3 9 110800377C> T null L F 659 659 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs754730206 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800380C> T null R C 660 660 missense 0.999 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000541009 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs754730206 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800380C> T null R C 660 660 missense 0.999 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000541009 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs777865246 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110800381G> A null R H 660 660 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs777865246 9q31.3 9 110800381G> T null R L 660 660 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs990106131 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110800384G> T null S I 661 661 missense 0.741 possibly damaging 0.16 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs62571411 9q31.3 9 110800388G> A null M I 662 662 missense 0.022 benign 0.15 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs757335240 9q31.3 9 110800390C> A null S Y 663 663 missense 0.148 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs779042240 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800392C> T null P S 664 664 missense 0.999 probably damaging 0.02 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653225 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs779042240 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800392C> T null P S 664 664 missense 0.999 probably damaging 0.02 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653225 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs555724845 9q31.3 9 110800396A> C null H P 665 665 2.0E-4 missense 0.0 benign 0.14 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs573900610 9q31.3 9 110800401G> A null V M 667 667 2.0E-4 missense 0.003 benign 0.21 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs565084287 9q31.3 9 110800409C> G null S R 669 669 missense 0.001 benign 0.12 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374669213 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110800419A> G null S G 673 673 missense 0.0 benign 0.55 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1490647040 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110800420G> A null S N 673 673 missense 0.0 benign 0.31 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1184419043 9q31.3 9 110800431A> G null M V 677 677 missense 0.0 benign 0.28 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1025623699 9q31.3 9 110800440C> T null Q * 680 680 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1464125081 9q31.3 9 110800443G> T null V F 681 681 missense 0.065 benign 0.27 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs776206952 9q31.3 9 110800456G> A null G E 685 685 missense 0.138 benign 1.0 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1216581384 9q31.3 9 110800455G> C null G R 685 685 missense 0.007 benign 0.39 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP rs377712660 9q31.3 9 110800459C> G null P R 686 686 missense 0.741 possibly damaging 0.21 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,TOPMed rs148946394 9q31.3 9 110800458C> T null P S 686 686 missense 0.301 benign 0.15 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP rs56126328 pubmed:17344846 9q31.3 9 110800465C> T null P L 688 688 missense 0.691 possibly damaging 0.45 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC rs56126328 9q31.3 9 110800465C> G null P R 688 688 missense 0.867 possibly damaging 0.22 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs762405737 9q31.3 9 110800464C> A null P T 688 688 missense 0.575 possibly damaging 0.3 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs754779029 9q31.3 9 110800467C> G null L V 689 689 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1018816209 9q31.3 9 110800474G> T null C F 691 691 missense 0.543 possibly damaging 0.12 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs547450130 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 9q31.3 9 110800476G> A null A T 692 692 missense 0.03 benign 0.81 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000403675 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs577931355 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800489G> A null C Y 696 696 2.0E-4 missense 0.412 benign 1.0 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653227 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs577931355 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800489G> A null C Y 696 696 2.0E-4 missense 0.412 benign 1.0 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653227 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1564300498 9q31.3 9 110800491A> G null I V 697 697 missense 0.077 benign 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1342857250 9q31.3 9 110800495C> T null A V 698 698 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs778908470 9q31.3 9 110800498G> A null R K 699 699 missense 0.253 benign 1.0 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs778908470 9q31.3 9 110800498G> C null R T 699 699 missense 0.015 benign 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1394477683 9q31.3 9 110800501A> G null Q R 700 700 missense 0.003 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs758510906 9q31.3 9 110800510C> T null A V 703 703 missense 0.402 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1463927823 9q31.3 9 110800519C> G null A G 706 706 missense 0.722 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1377981904 9q31.3 9 110800518G> C null A P 706 706 missense 0.93 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1450059228 9q31.3 9 110800522A> G null Y C 707 707 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs965897235 9q31.3 9 110800525T> C null L P 708 708 missense 0.028 benign 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,gnomAD rs373688070 9q31.3 9 110800531A> G null E G 710 710 missense 0.492 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs780708655 9q31.3 9 110800530G> C null E Q 710 710 missense 0.724 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs769211968 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110800533C> T null R C 711 711 missense 0.027 benign 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,TOPMed rs545173798 9q31.3 9 110800534G> A null R H 711 711 2.0E-4 missense 0.91 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs769211968 9q31.3 9 110800533C> A null R S 711 711 missense 0.577 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1319315530 9q31.3 9 110800536A> G null K E 712 712 missense 0.389 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1195333037 9q31.3 9 110800537A> G null K R 712 712 missense 0.492 possibly damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1238400476 9q31.3 9 110800543T> C null V A 714 714 missense 0.028 benign 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1255531873 9q31.3 9 110800548C> T null R * 716 716 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs397515450 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [UniProt]: affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering pubmed:20371544 pubmed:20371544 9q31.3 9 110800558C> T null A V 719 719 missense 0.652 possibly damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000054418 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs397515450 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [UniProt]: affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering pubmed:20371544 pubmed:20371544 9q31.3 9 110800558C> T null A V 719 719 missense 0.652 possibly damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. MIM:616325 pubmed:15496425,pubmed:19949040,pubmed:20371544,pubmed:23326516,pubmed:24183479 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1473937582 9q31.3 9 110800576T> C null V A 725 725 missense 0.298 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs376635652 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800578G> A null G S 726 726 missense 0.447 possibly damaging 0.08 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653229 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,TOPMed,dbSNP,gnomAD rs376635652 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800578G> A null G S 726 726 missense 0.447 possibly damaging 0.08 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653229 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1048752511 9q31.3 9 110800579G> T null G V 726 726 missense 0.028 benign 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138418494 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800581G> A null E K 727 727 2.0E-4 missense 0.084 benign 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000653233,ClinVar:RCV001169415 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138418494 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800581G> A null E K 727 727 2.0E-4 missense 0.084 benign 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653233 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs770373727 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800586C> G null N K 728 728 missense 0.127 benign 0.06 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000795824 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs770373727 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800586C> G null N K 728 728 missense 0.127 benign 0.06 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000795824 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs912875736 9q31.3 9 110800588T> C null M T 729 729 missense 0.396 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1348939791 9q31.3 9 110800587A> G null M V 729 729 missense 0.237 benign 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs774327095 9q31.3 9 110800591T> C null V A 730 730 missense 0.298 benign 0.05 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs767252670 9q31.3 9 110800594T> C null V A 731 731 missense 0.451 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs752514384 9q31.3 9 110800600T> C null I T 733 733 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs750605786 9q31.3 9 110800605G> C null D H 735 735 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs750605786 9q31.3 9 110800605G> A null D N 735 735 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs946331182 9q31.3 9 110800609T> G null F C 736 736 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs907475279 9q31.3 9 110800618C> G null S C 739 739 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs780279119 9q31.3 9 110800621G> A null R K 740 740 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1224878179 9q31.3 9 110800623A> G null N D 741 741 missense 0.997 probably damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs755489021 9q31.3 9 110800624A> G null N S 741 741 missense 0.995 probably damaging 0.09 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs375212477 9q31.3 9 110800626A> T null I F 742 742 missense 0.543 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs781506865 9q31.3 9 110800627T> C null I T 742 742 missense 0.423 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1205731716 9q31.3 9 110800633C> T null S L 744 744 missense 0.996 probably damaging 0.24 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1032294980 9q31.3 9 110800640C> G null D E 746 746 missense 0.997 probably damaging 0.11 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs769989475 9q31.3 9 110800648A> C null K T 749 749 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs748922669 9q31.3 9 110800662G> C null D H 754 754 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs748922669 9q31.3 9 110800662G> A null D N 754 754 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199507468 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110800665G> A null A T 755 755 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs759515313 9q31.3 9 110800666C> T null A V 755 755 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1554757211 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800669T> C null I T 756 756 missense 0.996 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000696818 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1554757211 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800669T> C null I T 756 756 missense 0.996 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000696818 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs954064794 9q31.3 9 110800675T> C null I T 758 758 missense 0.516 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1376882869 9q31.3 9 110800674A> G null I V 758 758 missense 0.03 benign 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1564300948 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110800677C> T null R C 759 759 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs370079610 [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800678G> A null R H 759 759 missense 0.999 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000701606 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs370079610 [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800678G> A null R H 759 759 missense 0.999 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000701606 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs760521422 9q31.3 9 110800684T> A null M K 761 761 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1248308515 9q31.3 9 110800683A> T null M L 761 761 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1274778340 9q31.3 9 110800695T> C null S P 765 765 missense 0.632 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs750742896 9q31.3 9 110800700T> G null I M 766 766 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs750833487 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 9q31.3 9 110800710C> T null R C 770 770 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs751712655 9q31.3 9 110800711G> A null R H 770 770 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs754976866 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110800717C> T null T I 772 772 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs34614566 pubmed:17344846 9q31.3 9 110800724G> T null E D 774 774 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs753090342 9q31.3 9 110800729A> C null D A 776 776 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1349236863 9q31.3 9 110800730T> A null D E 776 776 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1554757237 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800735G> A null W * 778 778 stop gained 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000677722 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs867146882 9q31.3 9 110800736G> A null W * 778 778 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs867146882 9q31.3 9 110800736G> T null W C 778 778 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs756563429 9q31.3 9 110800737G> A null A T 779 779 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1200922660 9q31.3 9 110800744G> C null G A 781 781 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl,dbSNP rs1057518966 9q31.3 9 110800743G> A null G S 781 781 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs199476083 cosmic curated [Cosmic]: breast, [UniProt]: does not affect catalytic kinase activity; reduces protein expression and stability, [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Pena-Shokeir syndrome type I pubmed:15496425 pubmed:15496425,cosmic_study:414 9q31.3 9 110800746G> A null V M 782 782 missense 0.999 probably damaging 0.0 deleterious 1 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000008722,ClinVar:RCV000701593 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs199476083 cosmic curated [Cosmic]: breast, [UniProt]: does not affect catalytic kinase activity; reduces protein expression and stability, [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Pena-Shokeir syndrome type I pubmed:15496425 pubmed:15496425,cosmic_study:414 9q31.3 9 110800746G> A null V M 782 782 missense 0.999 probably damaging 0.0 deleterious 1 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. MIM:616325 pubmed:15496425,pubmed:19949040,pubmed:20371544,pubmed:23326516,pubmed:24183479 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs199476083 cosmic curated [Cosmic]: breast, [UniProt]: does not affect catalytic kinase activity; reduces protein expression and stability, [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Pena-Shokeir syndrome type I pubmed:15496425 pubmed:15496425,cosmic_study:414 9q31.3 9 110800746G> A null V M 782 782 missense 0.999 probably damaging 0.0 deleterious 1 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000701593 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs756877019 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 9q31.3 9 110800760G> C null E D 786 786 missense 0.995 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000202616 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1564301135 9q31.3 9 110800762T> G null I S 787 787 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs778487184 cosmic curated [Cosmic]: large_intestine pubmed:23700467,cosmic_study:485 9q31.3 9 110800766C> G null F L 788 788 missense 0.992 probably damaging 0.0 deleterious 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1410889717 9q31.3 9 110800767T> G null S A 789 789 missense 0.992 probably damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs188840021 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800771A> G null Y C 790 790 3.99E-4 missense 0.999 probably damaging 0.01 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000304044,ClinVar:RCV000653236 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs188840021 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800771A> G null Y C 790 790 3.99E-4 missense 0.999 probably damaging 0.01 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000653236 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ESP,TOPMed,dbSNP,gnomAD rs376837791 9q31.3 9 110800786A> G null Y C 795 795 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,gnomAD rs533353279 9q31.3 9 110800789A> G null Y C 796 796 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1158986610 9q31.3 9 110800797G> A null A T 799 799 missense 0.998 probably damaging 0.53 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1455145377 9q31.3 9 110800808G> C null E D 802 802 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs776545682 9q31.3 9 110800809G> A null V I 803 803 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs766741998 9q31.3 9 110800815T> C null Y H 805 805 missense 0.412 benign 0.11 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs774652957 9q31.3 9 110800819A> G null Y C 806 806 missense 0.923 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs551520537 9q31.3 9 110800821G> C null V L 807 807 2.0E-4 missense 0.528 possibly damaging 0.03 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs551520537 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800821G> T null V L 807 807 2.0E-4 missense 0.528 possibly damaging 0.03 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000530016 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs551520537 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800821G> T null V L 807 807 2.0E-4 missense 0.528 possibly damaging 0.03 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000530016 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs551520537 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:440 9q31.3 9 110800821G> A null V M 807 807 2.0E-4 missense 0.904 possibly damaging 0.0 deleterious 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase dbSNP,gnomAD rs1487680236 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 9q31.3 9 110800824C> T null R * 808 808 stop gained 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,dbSNP,gnomAD rs764486887 NCI-TCGA Cosmic [Cosmic]: endometrium, [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Pena-Shokeir syndrome type I cosmic_study:419 9q31.3 9 110800825G> A null R Q 808 808 missense 0.997 probably damaging 0.07 tolerated 1 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000799968,ClinVar:RCV001166471 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,dbSNP,gnomAD rs764486887 NCI-TCGA Cosmic [Cosmic]: endometrium, [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Pena-Shokeir syndrome type I cosmic_study:419 9q31.3 9 110800825G> A null R Q 808 808 missense 0.997 probably damaging 0.07 tolerated 1 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000799968 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs866137792 9q31.3 9 110800827G> A null D N 809 809 missense 0.72 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs754220594 9q31.3 9 110800831G> A null G D 810 810 missense 0.905 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,dbSNP,gnomAD rs757577755 cosmic curated [UniProt]: a lung neuroendocrine carcinoma sample; somatic mutation, [Cosmic]: lung pubmed:17344846 pubmed:16140923,cosmic_study:22,cosmic_study:34 9q31.3 9 110800834A> G null N S 811 811 missense 0.047 benign 0.02 deleterious 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs778542029 9q31.3 9 110800836A> C null I L 812 812 missense 0.018 benign 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1180600991 9q31.3 9 110800843C> A null S Y 814 814 missense 0.516 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs745452778 9q31.3 9 110800846G> T null C F 815 815 missense 0.741 possibly damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1262681536 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 9q31.3 9 110800853G> T null E D 817 817 missense 0.007 benign 0.68 tolerated 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs757984021 9q31.3 9 110800854A> T null N Y 818 818 missense 0.412 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1380591791 9q31.3 9 110800859C> G null C W 819 819 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs578430 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110800863G> T null V L 821 821 0.1068 missense 0.0 benign 1.0 tolerated 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000354244,ClinVar:RCV000559727 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs578430 [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 9q31.3 9 110800863G> T null V L 821 821 0.1068 missense 0.0 benign 1.0 tolerated 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000559727 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs578430 9q31.3 9 110800863G> C null V L 821 821 0.1068 missense 0.0 benign 1.0 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs578430 9q31.3 9 110800863G> A null V M 821 821 0.1068 missense 0.005 benign 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1447638175 9q31.3 9 110800869C> G null L V 823 823 missense 0.997 probably damaging 0.37 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs1247999308 9q31.3 9 110800876A> G null N S 825 825 missense 0.995 probably damaging 0.07 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs747964862 9q31.3 9 110800883G> C null M I 827 827 missense 0.018 benign 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs769657813 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 9q31.3 9 110800884C> T null R C 828 828 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371689428 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 9q31.3 9 110800885G> A null R H 828 828 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1285790890 9q31.3 9 110800887C> G null L V 829 829 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs759676246 9q31.3 9 110800890T> A null C S 830 830 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP rs1011593420 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800895G> C null W C 831 831 missense 0.999 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000793169 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,dbSNP rs1011593420 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800895G> C null W C 831 831 missense 0.999 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000793169 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1383497837 9q31.3 9 110800897G> A null S N 832 832 missense 0.995 probably damaging 0.25 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,TOPMed,gnomAD rs768074747 9q31.3 9 110800898C> A null S R 832 832 missense 0.998 probably damaging 0.06 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase Ensembl rs1029214218 9q31.3 9 110800912A> G null D G 837 837 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs760757288 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800917C> A null P T 839 839 missense 0.999 probably damaging 0.0 deleterious 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000531235 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,dbSNP,gnomAD rs760757288 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800917C> A null P T 839 839 missense 0.999 probably damaging 0.0 deleterious 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000531235 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1452311017 9q31.3 9 110800926A> G null T A 842 842 missense 0.0 benign 1.0 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA rs764615519 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:375 9q31.3 9 110800938C> T null R * 846 846 missense 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,TOPMed,gnomAD rs754275653 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:376 9q31.3 9 110800939G> A null R Q 846 846 missense 0.997 probably damaging 0.16 tolerated 1 A0A087WSY1 MUSK Receptor protein-tyrosine kinase gnomAD rs1385796852 9q31.3 9 110800947G> C null E Q 849 849 missense 0.003 benign 0.13 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200450921 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110800950C> T null R C 850 850 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,gnomAD rs200450921 9q31.3 9 110800950C> G null R G 850 850 2.0E-4 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs34115159 NCI-TCGA Cosmic [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 cosmic_study:323 9q31.3 9 110800951G> A null R H 850 850 0.002995 missense 0.999 probably damaging 0.03 deleterious 1 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000259526,ClinVar:RCV000543413 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs34115159 NCI-TCGA Cosmic [ClinVar]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Pena-Shokeir syndrome type I pubmed:17344846 cosmic_study:323 9q31.3 9 110800951G> A null R H 850 850 0.002995 missense 0.999 probably damaging 0.03 deleterious 1 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000543413 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed,gnomAD rs748071334 9q31.3 9 110800957G> T null C F 852 852 missense 0.999 probably damaging 0.16 tolerated 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,NCI-TCGA,gnomAD rs750132076 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q31.3 9 110800972G> A null G E 857 857 missense 0.007 benign 0.11 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs779710805 9q31.3 9 110800978T> C null V A 859 859 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs370094071 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800977G> T null V L 859 859 0.002596 missense 0.0 benign 0.44 tolerated - low confidence 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000873077 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs370094071 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800977G> T null V L 859 859 0.002596 missense 0.0 benign 0.44 tolerated - low confidence 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000873077 A0A087WSY1 MUSK Receptor protein-tyrosine kinase TOPMed rs1195620547 9q31.3 9 110800981G> A null S N 860 860 missense 0.044 benign 0.68 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase ExAC,gnomAD rs751063825 9q31.3 9 110800983G> A null V I 861 861 missense 0.005 benign 0.11 tolerated - low confidence 0 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201134491 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800986T> C null * Q 862 862 3.99E-4 stop lost 0 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e. MIM:616325 pubmed:20301347,ClinVar:RCV000797875 A0A087WSY1 MUSK Receptor protein-tyrosine kinase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201134491 [ClinVar]: Pena-Shokeir syndrome type I 9q31.3 9 110800986T> C null * Q 862 862 3.99E-4 stop lost 0 Pena-Shokeir syndrome type I (FADS1) MIM:208150 ClinVar:RCV000797875 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1406976507 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16690404G> A null A T 2 2 missense 0.017 benign 0.07 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs2928658 17p11.2 17 16690405C> T null A V 2 2 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ESP,ExAC,TOPMed,gnomAD rs370924631 17p11.2 17 16690411G> A null W * 4 4 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1195350452 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 17p11.2 17 16690414G> T null G V 5 5 missense 0.988 probably damaging 0.0 deleterious - low confidence 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1267531380 17p11.2 17 16690419G> C null E Q 7 7 missense 0.859 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs557850602 17p11.2 17 16690423A> G null K R 8 8 3.99E-4 missense 0.801 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs577983126 17p11.2 17 16690425C> G null R G 9 9 2.0E-4 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs771404713 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:375 17p11.2 17 16690426G> A null R Q 9 9 missense 0.068 benign 0.01 deleterious - low confidence 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,NCI-TCGA,gnomAD rs577983126 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17p11.2 17 16690425C> T null R W 9 9 2.0E-4 missense 0.197 benign 0.0 deleterious - low confidence 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A Ensembl rs1567580225 17p11.2 17 16690428G> A null G R 10 10 missense 0.083 benign 0.04 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs774742134 17p11.2 17 16690440G> A null G R 14 14 missense 0.991 probably damaging 0.05 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs982973555 17p11.2 17 16690446C> T null P S 16 16 missense 0.954 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371265519 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16690453C> T null P L 18 18 0.001597 missense 0.466 possibly damaging 0.21 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs775583093 17p11.2 17 16690455G> T null A S 19 19 missense 0.031 benign 0.25 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs775583093 17p11.2 17 16690455G> A null A T 19 19 missense 0.01 benign 0.39 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs764147507 17p11.2 17 16690458G> T null V F 20 20 missense 0.965 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1418241760 17p11.2 17 16690464G> C null A P 22 22 missense 0.416 benign 0.31 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1418241760 cosmic curated [Cosmic]: pancreas pubmed:24293293,cosmic_study:529 17p11.2 17 16690464G> A null A T 22 22 missense 0.957 probably damaging 0.01 deleterious - low confidence 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs776760724 17p11.2 17 16690465C> T null A V 22 22 missense 0.954 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1156780614 17p11.2 17 16690470A> G null R G 24 24 missense 0.838 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs761708441 17p11.2 17 16690477C> A null T N 26 26 missense 0.923 probably damaging 0.06 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs895370300 17p11.2 17 16690476A> T null T S 26 26 missense 0.467 possibly damaging 0.22 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed rs750183409 17p11.2 17 16690480C> G null P R 27 27 missense 0.01 benign 0.83 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs765136331 17p11.2 17 16690479C> T null P S 27 27 missense 0.057 benign 0.69 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs765136331 17p11.2 17 16690479C> A null P T 27 27 missense 0.102 benign 0.46 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1294317489 17p11.2 17 16690482A> G null S G 28 28 missense 0.09 benign 0.39 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC rs751268620 17p11.2 17 16690485G> T null V F 29 29 missense 0.244 benign 0.09 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,NCI-TCGA,TOPMed,gnomAD rs2928657 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16690488G> A null G R 30 30 missense 0.031 benign 1.0 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC rs780843051 17p11.2 17 16690495A> G null Q R 32 32 missense 0.607 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,NCI-TCGA,TOPMed,gnomAD rs747697017 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17p11.2 17 16690498G> A null G E 33 33 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs757757152 17p11.2 17 16690500G> T null D Y 34 34 missense 0.979 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs772340627 17p11.2 17 16690505G> C null Q H 35 35 missense 0.891 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs746181106 17p11.2 17 16690503C> A null Q K 35 35 missense 0.486 possibly damaging 0.36 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs199720294 17p11.2 17 16690510A> C null Y S 37 37 missense 0.0 benign 0.93 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A Ensembl rs200445302 17p11.2 17 16690513T> C null L S 38 38 missense 0.934 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs747229684 17p11.2 17 16690516G> A null G D 39 39 missense 0.047 benign 0.24 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1230674405 17p11.2 17 16690515G> C null G R 39 39 missense 0.139 benign 0.05 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs201250638 17p11.2 17 16690519A> T null Y F 40 40 missense 0.031 benign 0.54 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs201250638 17p11.2 17 16690519A> C null Y S 40 40 missense 0.017 benign 0.39 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs776670944 17p11.2 17 16690522C> G null P R 41 41 missense 0.015 benign 0.14 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs574092546 17p11.2 17 16690524G> A null G R 42 42 2.0E-4 missense 0.972 probably damaging 0.02 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs769731047 17p11.2 17 16690529C> A null D E 43 43 missense 0.866 possibly damaging 0.11 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs773026244 17p11.2 17 16690532G> C null Q H 44 44 missense 0.048 benign 0.08 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,TOPMed rs542811265 17p11.2 17 16690537C> A null S Y 46 46 5.99E-4 missense 0.843 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs562771471 17p11.2 17 16690540C> T null S L 47 47 5.99E-4 missense 0.776 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs562771471 17p11.2 17 16690540C> G null S W 47 47 5.99E-4 missense 0.966 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201730519 17p11.2 17 16690547C> G null F L 49 49 0.003594 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117829593 17p11.2 17 16690549C> T null P L 50 50 0.004593 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117829593 17p11.2 17 16690549C> G null P R 50 50 0.004593 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs779422079 17p11.2 17 16690548C> T null P S 50 50 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1258042640 17p11.2 17 16690552A> G null Y C 51 51 missense 0.35 benign 0.13 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs780366682 17p11.2 17 16690555G> A null S N 52 52 missense 0.075 benign 0.02 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs747423910 17p11.2 17 16690558G> T null W L 53 53 missense 0.058 benign 0.15 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1458178352 17p11.2 17 16690563A> T null K * 55 55 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs564701836 17p11.2 17 16690567A> C null N T 56 56 2.0E-4 missense 0.056 benign 0.03 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1176139835 17p11.2 17 16690569A> G null S G 57 57 missense 0.159 benign 0.27 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs769776405 17p11.2 17 16690570G> A null S N 57 57 missense 0.089 benign 0.47 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1460115638 17p11.2 17 16690572G> T null V F 58 58 missense 0.164 benign 0.02 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,NCI-TCGA,gnomAD rs773397079 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 17p11.2 17 16690579G> A null S N 60 60 missense 0.838 possibly damaging 0.01 deleterious - low confidence 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1478360865 17p11.2 17 16690581G> C null E Q 61 61 missense 0.085 benign 0.25 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs762792381 17p11.2 17 16690600G> A null G D 67 67 missense 0.892 possibly damaging 0.03 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs762792381 17p11.2 17 16690600G> T null G V 67 67 missense 0.92 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1370885993 17p11.2 17 16690609A> C null D A 70 70 missense 0.203 benign 0.04 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1453972619 17p11.2 17 16690613G> T null Q H 71 71 missense 0.965 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1303422396 17p11.2 17 16690618A> G null Q R 73 73 missense 0.003 benign 0.74 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs774262469 17p11.2 17 16690624A> G null D G 75 75 missense 0.777 possibly damaging 0.07 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs767216791 17p11.2 17 16690626G> T null V F 76 76 missense 0.994 probably damaging 0.02 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs767216791 17p11.2 17 16690626G> C null V L 76 76 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,NCI-TCGA,TOPMed,gnomAD rs752415238 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16690629C> T null R C 77 77 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1346446741 cosmic curated [Cosmic]: prostate cosmic_study:435 17p11.2 17 16690630G> T null R L 77 77 missense 0.145 benign 0.07 tolerated - low confidence 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1200303334 17p11.2 17 16690633T> A null L Q 78 78 missense 0.881 possibly damaging 0.08 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1365470382 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16690647G> A null E K 83 83 missense 0.003 benign 0.51 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs753430195 17p11.2 17 16690650C> T null L F 84 84 missense 0.744 possibly damaging 0.01 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1164269456 17p11.2 17 16690651T> C null L P 84 84 missense 0.009 benign 0.05 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1325649565 17p11.2 17 16690660C> T null A V 87 87 missense 0.987 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185265343 17p11.2 17 16690665C> G null R G 89 89 9.98E-4 missense 0.934 probably damaging 0.79 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs185265343 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16690665C> T null R W 89 89 9.98E-4 missense 0.092 benign 0.18 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs781332919 17p11.2 17 16690669C> T null S L 90 90 missense 0.031 benign 0.2 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1404101186 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16690672G> A null G D 91 91 missense 0.983 probably damaging 0.01 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs756424424 17p11.2 17 16690677G> T null V F 93 93 missense 0.369 benign 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs777681271 17p11.2 17 16690691G> C null E D 97 97 missense 0.18 benign 0.34 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1381690170 17p11.2 17 16690690A> G null E G 97 97 missense 0.889 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1381690170 17p11.2 17 16690690A> T null E V 97 97 missense 0.974 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,TOPMed,gnomAD rs561026830 17p11.2 17 16690692C> A null H N 98 98 2.0E-4 missense 0.043 benign 0.05 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,TOPMed,gnomAD rs561026830 17p11.2 17 16690692C> T null H Y 98 98 2.0E-4 missense 0.131 benign 0.02 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs749432400 17p11.2 17 16690695A> G null I V 99 99 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC rs774457008 17p11.2 17 16690699T> A null L * 100 100 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs202033635 17p11.2 17 16690701G> A null A T 101 101 0.007388 missense 0.163 benign 0.05 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs2621674 17p11.2 17 16690702C> T null A V 101 101 missense 0.011 benign 0.25 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs775425256 17p11.2 17 16690704C> G null P A 102 102 missense 0.763 possibly damaging 1.0 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs760215999 17p11.2 17 16690705C> T null P L 102 102 missense 0.125 benign 0.96 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs763859089 17p11.2 17 16690707G> A null G R 103 103 missense 0.405 benign 0.45 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1263466796 17p11.2 17 16690717G> T null G V 106 106 missense 0.997 probably damaging 0.02 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A Ensembl rs1567580607 17p11.2 17 16690720T> C null V A 107 107 missense 0.121 benign 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,NCI-TCGA,gnomAD rs761344437 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16690719G> A null V M 107 107 missense 0.034 benign 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1424740780 17p11.2 17 16690729G> A null R K 110 110 missense 0.937 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs899868203 17p11.2 17 16690731G> C null D H 111 111 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs752073461 17p11.2 17 16690734A> G null R G 112 112 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1353478929 17p11.2 17 16690735G> A null R K 112 112 missense 0.014 benign 0.29 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1312259870 17p11.2 17 16690738A> G null K R 113 113 missense 0.917 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1245225495 17p11.2 17 16690741A> G null K R 114 114 missense 0.085 benign 0.05 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1361928896 17p11.2 17 16692992G> A null V I 120 120 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,gnomAD rs563379298 17p11.2 17 16693011A> G null K R 126 126 3.99E-4 missense 0.06 benign 0.01 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs988812974 17p11.2 17 16693019C> A null P T 129 129 missense 0.833 possibly damaging 0.04 deleterious - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1312571302 17p11.2 17 16693022G> A null E K 130 130 missense 0.005 benign 0.09 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs982546810 17p11.2 17 16705156C> A null H N 141 141 missense 0.44 benign 0.06 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1231440163 17p11.2 17 16705158T> A null H Q 141 141 missense 0.021 benign 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs542425972 17p11.2 17 16705170G> T null L F 145 145 2.0E-4 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs927902601 17p11.2 17 16705172C> T null T I 146 146 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs935280770 17p11.2 17 16705174C> G null L V 147 147 missense 0.003 benign 0.27 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1212691211 17p11.2 17 16705178G> A null S N 148 148 missense 0.068 benign 0.42 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1231494558 17p11.2 17 16705179T> A null S R 148 148 missense 0.716 possibly damaging 0.12 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs55898632 17p11.2 17 16705203G> C null K N 156 156 0.01558 missense 0.914 probably damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs761254619 17p11.2 17 16705201A> C null K Q 156 156 missense 0.914 probably damaging 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs764713137 17p11.2 17 16705202A> G null K R 156 156 missense 0.234 benign 0.29 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1183433122 17p11.2 17 16705217A> T null D V 161 161 missense 0.945 probably damaging 0.08 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1225775889 17p11.2 17 16705240C> T null P S 169 169 missense 0.005 benign 0.33 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1364046152 17p11.2 17 16705259A> C null Q P 175 175 missense 0.702 possibly damaging 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs893615846 17p11.2 17 16705262C> G null S * 176 176 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs760003777 17p11.2 17 16705265C> T null A V 177 177 missense 0.866 possibly damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs946563632 17p11.2 17 16705270A> G null K E 179 179 missense 0.833 possibly damaging 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1177990069 17p11.2 17 16705275A> T null E D 180 180 missense 0.953 probably damaging 0.26 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1039413018 17p11.2 17 16705282C> T null Q * 183 183 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1156932674 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16705297G> A null E K 188 188 missense 0.833 possibly damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1397357528 17p11.2 17 16705300C> T null R * 189 189 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1352599190 17p11.2 17 16705301G> A null R Q 189 189 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1363334940 17p11.2 17 16705304A> G null E G 190 190 missense 0.154 benign 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs752953255 17p11.2 17 16705307A> T null K M 191 191 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs761128361 17p11.2 17 16705315A> C null T P 194 194 missense 0.031 benign 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1438096092 17p11.2 17 16705324G> A null V I 197 197 missense 0.866 possibly damaging 0.12 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1331859077 17p11.2 17 16705328T> C null L P 198 198 missense 0.0 benign 0.15 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1029776522 17p11.2 17 16705327C> G null L V 198 198 missense 0.0 benign 0.28 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1273661076 17p11.2 17 16705339A> G null N D 202 202 missense 0.024 benign 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1202436788 17p11.2 17 16705340A> T null N I 202 202 missense 0.196 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1340946468 17p11.2 17 16705346C> G null T S 204 204 missense 0.0 benign 0.54 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs531081500 17p11.2 17 16705348C> T null L F 205 205 2.0E-4 missense 0.102 benign 0.05 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1005505295 17p11.2 17 16705354G> C null D H 207 207 missense 0.891 possibly damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1376774459 17p11.2 17 16705362C> A null C * 209 209 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1305607225 17p11.2 17 16705367C> T null S L 211 211 missense 0.702 possibly damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1199649665 17p11.2 17 16705369C> G null Q E 212 212 missense 0.383 benign 0.08 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1309872044 17p11.2 17 16705378G> C null E Q 215 215 missense 0.607 possibly damaging 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1408087475 17p11.2 17 16705382A> G null N S 216 216 missense 0.494 possibly damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1253878196 17p11.2 17 16705388A> G null E G 218 218 missense 0.001 benign 0.18 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs577819809 17p11.2 17 16707481C> T null S L 226 226 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs577819809 17p11.2 17 16707481C> G null S W 226 226 2.0E-4 missense 0.001 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs780907177 17p11.2 17 16707486C> G null L V 228 228 missense 0.001 benign 0.65 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs747792037 17p11.2 17 16707499A> C null E A 232 232 missense 0.95 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1213723346 17p11.2 17 16707503G> T null E D 233 233 missense 0.479 possibly damaging 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1187625211 17p11.2 17 16707504C> T null Q * 234 234 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1262763333 17p11.2 17 16707511G> C null R T 236 236 missense 0.35 benign 0.06 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1171072729 17p11.2 17 16707517A> G null K R 238 238 missense 0.06 benign 0.12 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376419771 17p11.2 17 16707523G> T null C F 240 240 3.99E-4 missense 0.014 benign 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1478233558 17p11.2 17 16707522T> C null C R 240 240 missense 0.005 benign 0.13 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376419771 17p11.2 17 16707523G> A null C Y 240 240 3.99E-4 missense 0.005 benign 0.05 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,NCI-TCGA,TOPMed,gnomAD rs776066736 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16707525G> A null E K 241 241 missense 0.0 benign 0.06 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1162657870 17p11.2 17 16707533G> C null K N 243 243 missense 0.0 benign 0.9 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1368300416 17p11.2 17 16707540C> G null Q E 246 246 missense 0.01 benign 0.25 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1414427608 17p11.2 17 16707541A> G null Q R 246 246 missense 0.135 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201792224 17p11.2 17 16708800C> T null T M 248 248 0.003594 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1176741679 17p11.2 17 16708799A> T null T S 248 248 missense 0.003 benign 0.31 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ESP,ExAC,TOPMed,gnomAD rs376080025 17p11.2 17 16708805C> T null Q * 250 250 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1397805372 17p11.2 17 16708806A> C null Q P 250 250 missense 0.683 possibly damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1375579932 17p11.2 17 16708808G> A null E K 251 251 missense 0.682 possibly damaging 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1375579932 17p11.2 17 16708808G> C null E Q 251 251 missense 0.765 possibly damaging 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1173552216 17p11.2 17 16708811C> G null P A 252 252 missense 0.021 benign 0.06 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs765491212 17p11.2 17 16708812C> A null P Q 252 252 missense 0.003 benign 0.06 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ESP,ExAC,TOPMed,gnomAD rs368503677 17p11.2 17 16708819G> A null M I 254 254 missense 0.607 possibly damaging 0.17 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs549811268 17p11.2 17 16708831C> A null C * 258 258 2.0E-4 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1475981662 17p11.2 17 16708829T> A null C S 258 258 missense 0.033 benign 0.05 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1255034086 17p11.2 17 16708830G> A null C Y 258 258 missense 0.781 possibly damaging 0.13 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ESP,ExAC,TOPMed,gnomAD rs371860754 17p11.2 17 16708832G> A null D N 259 259 missense 0.95 probably damaging 0.05 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,NCI-TCGA rs562861000 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16708845T> C null I T 263 263 2.0E-4 missense 0.022 benign 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376203443 17p11.2 17 16708848C> G null P R 264 264 2.0E-4 missense 0.781 possibly damaging 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1330761526 17p11.2 17 16708847C> A null P T 264 264 missense 0.316 benign 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1346940681 17p11.2 17 16708852A> G null I M 265 265 missense 0.022 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs551409918 17p11.2 17 16708850A> G null I V 265 265 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs755904216 17p11.2 17 16708855T> A null Y * 266 266 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs777345937 17p11.2 17 16708862C> T null L F 269 269 missense 0.781 possibly damaging 0.17 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs777345937 17p11.2 17 16708862C> A null L I 269 269 missense 0.503 possibly damaging 0.18 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs748969154 17p11.2 17 16708863T> G null L R 269 269 missense 0.496 possibly damaging 0.87 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201297434 17p11.2 17 16708869A> T null H L 271 271 0.003594 missense 0.234 benign 0.63 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201297434 17p11.2 17 16708869A> G null H R 271 271 0.003594 missense 0.234 benign 0.38 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ESP,NCI-TCGA rs200353361 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16708868C> T null H Y 271 271 missense 0.506 possibly damaging 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs745396007 17p11.2 17 16708872T> C null V A 272 272 missense 0.0 benign 0.2 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs769167954 17p11.2 17 16708879A> T null K N 274 274 missense 0.413 benign 0.35 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs748465913 17p11.2 17 16708881C> T null S F 275 275 missense 0.618 possibly damaging 0.66 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1400298219 17p11.2 17 16708880T> C null S P 275 275 missense 0.683 possibly damaging 0.22 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs770271059 17p11.2 17 16708902A> C null Q P 282 282 missense 0.506 possibly damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1170326497 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16708905G> A null G D 283 283 missense 0.078 benign 0.13 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs773778347 17p11.2 17 16708914A> G null E G 286 286 missense 0.932 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs766556877 NCI-TCGA Cosmic [Cosmic]: NS, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:22622578,cosmic_study:388 17p11.2 17 16708918G> A null W * 287 287 missense 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs766556877 17p11.2 17 16708918G> T null W C 287 287 missense 0.878 possibly damaging 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs9904955 17p11.2 17 16708924C> A null N K 289 289 0.01797 missense 0.316 benign 0.27 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs774439774 17p11.2 17 16708923A> G null N S 289 289 missense 0.316 benign 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs767373772 17p11.2 17 16708932A> G null K R 292 292 missense 0.413 benign 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ESP,ExAC,TOPMed,gnomAD rs376339930 17p11.2 17 16708937G> A null V I 294 294 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs753630277 17p11.2 17 16708940A> C null I L 295 295 missense 0.005 benign 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs753630277 17p11.2 17 16708940A> G null I V 295 295 missense 0.005 benign 0.05 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs756887709 17p11.2 17 16708946G> T null E * 297 297 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs756887709 17p11.2 17 16708946G> C null E Q 297 297 missense 0.027 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1209852926 17p11.2 17 16708951A> C null L F 298 298 missense 0.955 probably damaging 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1487912415 17p11.2 17 16708949T> A null L I 298 298 missense 0.859 possibly damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1359519335 17p11.2 17 16708960G> T null R S 301 301 missense 0.316 benign 0.41 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1487080977 17p11.2 17 16708970A> G null I V 305 305 missense 0.622 possibly damaging 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1424844284 17p11.2 17 16708982T> C null Y H 309 309 missense 0.0 benign 0.21 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs745319880 17p11.2 17 16708992C> T null P L 312 312 missense 0.428 benign 0.12 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs745319880 17p11.2 17 16708992C> A null P Q 312 312 missense 0.869 possibly damaging 0.08 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1287851546 17p11.2 17 16708994G> A null A T 313 313 missense 0.0 benign 0.44 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1295330191 17p11.2 17 16708998G> T null C F 314 314 missense 0.171 benign 0.71 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1295301475 17p11.2 17 16709001C> T null P L 315 315 missense 0.077 benign 0.05 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1399585004 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 17p11.2 17 16709003G> A null E K 316 316 missense 0.027 benign 0.55 tolerated 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs770463419 17p11.2 17 16709011G> T null E D 318 318 missense 0.866 possibly damaging 0.08 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs972919779 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16709009G> A null E K 318 318 missense 0.908 possibly damaging 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC rs748662035 17p11.2 17 16709010A> T null E V 318 318 missense 0.958 probably damaging 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs749636147 17p11.2 17 16709013C> T null P L 319 319 missense 0.413 benign 0.15 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1320971357 17p11.2 17 16709033A> G null R G 326 326 missense 0.013 benign 0.31 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ESP,TOPMed rs373055547 17p11.2 17 16709036G> A null G R 327 327 missense 0.026 benign 0.34 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1266643224 17p11.2 17 16709040C> T null T I 328 328 missense 0.496 possibly damaging 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs759600197 17p11.2 17 16709045G> A null V I 330 330 missense 0.31 benign 0.16 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs772123475 17p11.2 17 16709055T> G null I S 333 333 missense 0.316 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs775590263 17p11.2 17 16709057C> T null P S 334 334 missense 0.336 benign 0.18 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs984230323 17p11.2 17 16709067T> C null L S 337 337 missense 0.934 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs764044902 17p11.2 17 16709070C> A null T K 338 338 missense 0.702 possibly damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1167035498 17p11.2 17 16709075A> G null N D 340 340 missense 0.019 benign 0.12 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs764886750 17p11.2 17 16709081C> T null P S 342 342 missense 0.607 possibly damaging 0.41 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1362679627 17p11.2 17 16709084G> C null G R 343 343 missense 0.955 probably damaging 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1432641733 17p11.2 17 16709088G> C null C S 344 344 missense 0.765 possibly damaging 0.21 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A Ensembl rs201473559 17p11.2 17 16709091A> G null E G 345 345 missense 0.006 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs758193537 17p11.2 17 16709099G> T null D Y 348 348 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1317030729 17p11.2 17 16709103C> G null A G 349 349 missense 0.057 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1317030729 17p11.2 17 16709103C> T null A V 349 349 missense 0.138 benign 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs779677970 17p11.2 17 16709108G> A null E K 351 351 missense 0.413 benign 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1195379449 17p11.2 17 16709111A> C null I L 352 352 missense 0.0 benign 0.19 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1238770174 17p11.2 17 16709114T> C null S P 353 353 missense 0.028 benign 0.31 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1355327563 17p11.2 17 16709123G> A null V M 356 356 missense 0.934 probably damaging 0.07 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs778172989 17p11.2 17 16709126G> T null V L 357 357 missense 0.316 benign 0.16 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs749596252 17p11.2 17 16709131C> A null F L 358 358 missense 0.018 benign 0.26 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1184154619 17p11.2 17 16709132G> A null E K 359 359 missense 0.509 possibly damaging 0.16 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200444506 17p11.2 17 16709138T> C null F L 361 361 3.99E-4 missense 0.682 possibly damaging 0.21 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs993127122 17p11.2 17 16709142C> A null P H 362 362 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs536906845 17p11.2 17 16709144G> T null E * 363 363 3.99E-4 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs556567827 17p11.2 17 16709147C> T null Q * 364 364 2.0E-4 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1237074471 17p11.2 17 16709150A> G null K E 365 365 missense 0.006 benign 0.12 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1412934428 17p11.2 17 16709156C> T null P S 367 367 missense 0.598 possibly damaging 0.08 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs570372849 17p11.2 17 16709159A> G null S G 368 368 2.0E-4 missense 0.019 benign 0.07 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1466355950 17p11.2 17 16709166A> G null K R 370 370 missense 0.702 possibly damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs760780181 17p11.2 17 16709171A> G null I V 372 372 missense 0.018 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs768517467 17p11.2 17 16709178A> G null H R 374 374 missense 0.041 benign 0.13 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs935707845 17p11.2 17 16709185C> A null Y * 376 376 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,NCI-TCGA,TOPMed,gnomAD rs761868371 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16709184A> G null Y C 376 376 missense 0.878 possibly damaging 0.22 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ESP,ExAC,TOPMed rs375253790 cosmic curated [Cosmic]: oesophagus cosmic_study:582 17p11.2 17 16709183T> C null Y H 376 376 missense 0.843 possibly damaging 0.34 tolerated 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs764939295 17p11.2 17 16709187A> G null Y C 377 377 missense 0.0 benign 0.17 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1300133600 17p11.2 17 16709193C> G null P R 379 379 missense 0.933 probably damaging 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs762671945 17p11.2 17 16709198T> C null S P 381 381 missense 0.934 probably damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1050201139 17p11.2 17 16709205C> T null S F 383 383 missense 0.781 possibly damaging 0.07 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1452426484 17p11.2 17 16709210G> A null E K 385 385 missense 0.0 benign 0.11 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs751072609 17p11.2 17 16709214A> G null H R 386 386 missense 0.506 possibly damaging 0.09 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs754536938 17p11.2 17 16709220G> A null C Y 388 388 missense 0.702 possibly damaging 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs778281522 17p11.2 17 16709228T> C null S P 391 391 missense 0.781 possibly damaging 0.05 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A Ensembl rs59471143 17p11.2 17 16709232C> T null S F 392 392 missense 0.891 possibly damaging 0.09 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1190898270 17p11.2 17 16709235A> G null K R 393 393 missense 0.018 benign 0.06 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs754285011 17p11.2 17 16709239T> G null F L 394 394 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,NCI-TCGA,TOPMed,gnomAD rs757847110 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 17p11.2 17 16709243T> G null L V 396 396 missense 0.801 possibly damaging 0.03 deleterious 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs779127533 17p11.2 17 16709247A> G null H R 397 397 missense 0.402 benign 0.35 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs772246321 17p11.2 17 16709259T> C null L S 401 401 missense 0.336 benign 0.11 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs780264088 cosmic curated [Cosmic]: lung cosmic_study:583 17p11.2 17 16709266C> A null C * 403 403 missense 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1355815929 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16709267G> A null D N 404 404 missense 0.776 possibly damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs538614545 17p11.2 17 16709271A> G null N S 405 405 3.99E-4 missense 0.0 benign 0.18 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs538614545 17p11.2 17 16709271A> C null N T 405 405 3.99E-4 missense 0.017 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1367802944 17p11.2 17 16709274A> G null D G 406 406 missense 0.019 benign 0.06 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs776838832 17p11.2 17 16709273G> C null D H 406 406 missense 0.891 possibly damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs776838832 17p11.2 17 16709273G> A null D N 406 406 missense 0.036 benign 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs769818779 17p11.2 17 16709283C> T null P L 409 409 missense 0.683 possibly damaging 0.21 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs772832373 17p11.2 17 16709286G> A null G D 410 410 missense 0.883 possibly damaging 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs772832373 17p11.2 17 16709286G> T null G V 410 410 missense 0.398 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1219820893 17p11.2 17 16709292G> A null G E 412 412 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs762872813 17p11.2 17 16709295A> G null H R 413 413 missense 0.607 possibly damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1275711179 17p11.2 17 16709294C> T null H Y 413 413 missense 0.607 possibly damaging 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1247513357 17p11.2 17 16709298T> C null I T 414 414 missense 0.82 possibly damaging 0.17 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs774156093 17p11.2 17 16709304G> A null S N 416 416 missense 0.503 possibly damaging 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs759315609 17p11.2 17 16709309G> C null D H 418 418 missense 0.843 possibly damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1477355757 17p11.2 17 16709319T> G null F C 421 421 missense 0.184 benign 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs752289489 17p11.2 17 16709328A> G null D G 424 424 missense 0.316 benign 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1403112798 17p11.2 17 16709331C> A null A E 425 425 missense 0.049 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1322235362 17p11.2 17 16709334G> A null S N 426 426 missense 0.003 benign 0.06 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1350129622 17p11.2 17 16709337C> G null T S 427 427 missense 0.021 benign 0.36 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A Ensembl rs1567588838 17p11.2 17 16709339A> G null K E 428 428 missense 0.646 possibly damaging 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed rs765807582 17p11.2 17 16709345G> A null A T 430 430 missense 0.702 possibly damaging 0.11 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs780456264 17p11.2 17 16709361T> C null V A 435 435 missense 0.0 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs780456264 17p11.2 17 16709361T> G null V G 435 435 missense 0.023 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,NCI-TCGA,TOPMed,gnomAD rs781111615 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16709367T> C null M T 437 437 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs755270281 17p11.2 17 16709366A> G null M V 437 437 missense 0.0 benign 0.2 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1290624067 17p11.2 17 16709383A> C null E D 442 442 missense 0.682 possibly damaging 0.12 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1314475210 17p11.2 17 16709384G> A null D N 443 443 missense 0.05 benign 0.09 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs773285758 17p11.2 17 16709405A> G null M V 450 450 missense 0.682 possibly damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs958946252 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16709408A> T null T S 451 451 missense 0.053 benign 0.22 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs992868086 17p11.2 17 16709421A> C null N T 455 455 missense 0.009 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs546377720 17p11.2 17 16709423C> A null Q K 456 456 missense 0.053 benign 0.23 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1477613607 17p11.2 17 16709438G> A null G S 461 461 missense 0.011 benign 0.35 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1258560776 17p11.2 17 16709442G> A null S N 462 462 missense 0.682 possibly damaging 0.31 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs759076736 17p11.2 17 16709445C> T null T I 463 463 missense 0.053 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1156515720 17p11.2 17 16709453T> A null Y N 466 466 missense 0.25 benign 0.11 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1359436064 17p11.2 17 16709454A> C null Y S 466 466 missense 0.01 benign 0.07 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192192037 17p11.2 17 16709456A> G null K E 467 467 2.0E-4 missense 0.139 benign 0.09 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs925763310 17p11.2 17 16709458A> C null K N 467 467 missense 0.006 benign 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1320643541 17p11.2 17 16709460G> A null S N 468 468 missense 0.001 benign 0.25 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1309797960 cosmic curated [Cosmic]: endometrium cosmic_study:419 17p11.2 17 16709461C> G null S R 468 468 missense 0.255 benign 0.01 deleterious 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1339248554 17p11.2 17 16709468C> T null P S 471 471 missense 0.053 benign 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs935860047 17p11.2 17 16709472A> C null K T 472 472 missense 0.197 benign 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs910324487 17p11.2 17 16709495C> G null P A 480 480 missense 0.006 benign 0.37 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs765608301 17p11.2 17 16709502A> G null D G 482 482 missense 0.026 benign 0.38 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1393957989 17p11.2 17 16709505C> A null S Y 483 483 missense 0.815 possibly damaging 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1378108605 17p11.2 17 16709513A> G null T A 486 486 missense 0.479 possibly damaging 0.16 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs944367921 17p11.2 17 16709514C> T null T I 486 486 missense 0.087 benign 0.18 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1398105287 17p11.2 17 16709525T> C null Y H 490 490 missense 0.452 possibly damaging 0.21 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1384524390 17p11.2 17 16709532A> C null H P 492 492 missense 0.06 benign 0.07 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1384524390 17p11.2 17 16709532A> G null H R 492 492 missense 0.01 benign 0.08 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs758971425 17p11.2 17 16709536A> C null E D 493 493 missense 0.38 benign 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs766701211 17p11.2 17 16709537G> T null E * 494 494 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs755105619 17p11.2 17 16709542A> T null L F 495 495 missense 0.155 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs897502855 17p11.2 17 16709543C> T null Q * 496 496 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1445939358 17p11.2 17 16709551C> A null D E 498 498 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ESP,ExAC,TOPMed,gnomAD rs374355538 17p11.2 17 16709550A> G null D G 498 498 missense 0.982 probably damaging 0.05 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1422309546 17p11.2 17 16709552A> G null M V 499 499 missense 0.003 benign 0.15 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1255840802 17p11.2 17 16709555C> A null Q K 500 500 missense 0.801 possibly damaging 0.08 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1379333259 17p11.2 17 16709564A> C null K Q 503 503 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC rs748109673 17p11.2 17 16709568A> G null N S 504 504 missense 0.012 benign 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1419875353 17p11.2 17 16709573G> T null V F 506 506 missense 0.271 benign 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs778053377 17p11.2 17 16709577A> G null N S 507 507 missense 0.0 benign 0.36 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs543644438 17p11.2 17 16709576A> T null N Y 507 507 2.0E-4 missense 0.0 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ESP,ExAC,gnomAD rs368458434 17p11.2 17 16709580C> T null T I 508 508 missense 0.0 benign 0.7 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1408871286 17p11.2 17 16709583T> G null L * 509 509 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1197422771 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 17p11.2 17 16709589A> G null E G 511 511 missense 0.019 benign 0.28 tolerated 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1274528015 17p11.2 17 16709592A> C null E A 512 512 missense 0.003 benign 0.15 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1468505884 17p11.2 17 16709591G> A null E K 512 512 missense 0.048 benign 0.15 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1377959581 17p11.2 17 16709596C> G null F L 513 513 missense 0.012 benign 0.12 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1242084498 17p11.2 17 16709595T> C null F S 513 513 missense 0.685 possibly damaging 0.12 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A Ensembl rs1567589107 17p11.2 17 16709609A> G null K E 518 518 missense 0.101 benign 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs771560111 17p11.2 17 16709616A> G null D G 520 520 missense 0.0 benign 0.06 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1273292620 17p11.2 17 16709615G> A null D N 520 520 missense 0.0 benign 0.74 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1199603037 17p11.2 17 16709624C> T null L F 523 523 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A Ensembl rs552364936 17p11.2 17 16711679G> T null V F 527 527 missense 0.024 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1477041862 17p11.2 17 16711687A> T null E D 529 529 missense 0.506 possibly damaging 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1230120274 17p11.2 17 16711691A> G null M V 531 531 missense 0.0 benign 0.29 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1295430922 17p11.2 17 16711702C> G null H Q 534 534 missense 0.0 benign 0.09 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1201481608 17p11.2 17 16711704G> T null R I 535 535 missense 0.025 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1242309292 17p11.2 17 16711713G> C null S T 538 538 missense 0.041 benign 0.08 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1458129043 17p11.2 17 16711716C> T null T I 539 539 missense 0.007 benign 0.19 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1170666638 17p11.2 17 16711728G> T null G V 543 543 missense 0.184 benign 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1374075047 17p11.2 17 16711739G> T null D Y 547 547 missense 0.062 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs532746239 17p11.2 17 16711742G> A null G S 548 548 2.0E-4 missense 0.057 benign 0.08 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1390318333 17p11.2 17 16711752T> C null V A 551 551 missense 0.0 benign 0.96 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1400639731 17p11.2 17 16711758A> G null N S 553 553 missense 0.001 benign 0.3 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1305153891 17p11.2 17 16711761A> G null D G 554 554 missense 0.025 benign 0.18 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs560068310 17p11.2 17 16711765T> G null D E 555 555 9.98E-4 missense 0.0 benign 0.09 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1169400838 17p11.2 17 16711764A> G null D G 555 555 missense 0.001 benign 0.2 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1188101091 17p11.2 17 16711770G> T null G V 557 557 missense 0.829 possibly damaging 0.06 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371240426 17p11.2 17 16711779A> C null Q P 560 560 0.004393 missense 0.354 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1467907118 17p11.2 17 16711785T> G null I S 562 562 missense 0.14 benign 0.14 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1307939550 17p11.2 17 16711787C> G null P A 563 563 missense 0.01 benign 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1307939550 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16711787C> T null P S 563 563 missense 0.006 benign 0.17 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs964918116 17p11.2 17 16711790A> G null R G 564 564 missense 0.017 benign 0.12 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1197798499 17p11.2 17 16711803G> A null G E 568 568 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1337789918 17p11.2 17 16711806A> G null E G 569 569 missense 0.0 benign 0.5 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1263117301 17p11.2 17 16711809A> C null H P 570 570 missense 0.354 benign 0.02 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs974799198 17p11.2 17 16711810T> G null H Q 570 570 missense 0.184 benign 0.16 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1263117301 17p11.2 17 16711809A> G null H R 570 570 missense 0.184 benign 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1445331284 17p11.2 17 16720199C> T null P S 573 573 missense 0.06 benign 0.38 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1197403529 17p11.2 17 16720202G> T null A S 574 574 missense 0.077 benign 0.17 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1185423370 17p11.2 17 16720208A> G null K E 576 576 missense 0.908 possibly damaging 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs764431781 17p11.2 17 16720211A> G null T A 577 577 missense 0.0 benign 0.08 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A Ensembl rs2656468 17p11.2 17 16720214T> G null S A 578 578 missense 0.07 benign 0.17 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192011569 17p11.2 17 16720220G> C null E Q 580 580 0.001797 missense 0.661 possibly damaging 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs200681750 17p11.2 17 16720228C> G null N K 582 582 missense 0.02 benign 0.16 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs200681750 17p11.2 17 16720228C> A null N K 582 582 missense 0.02 benign 0.16 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1301024320 17p11.2 17 16720229G> A null E K 583 583 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1410361221 17p11.2 17 16720524A> T null N I 586 586 missense 0.354 benign 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs775872840 17p11.2 17 16720526C> A null Q K 587 587 missense 0.261 benign 0.09 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs761127555 17p11.2 17 16720535C> T null P S 590 590 missense 0.071 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1467750554 17p11.2 17 16720538G> C null E Q 591 591 missense 0.013 benign 0.54 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC rs764356618 17p11.2 17 16720541G> C null A P 592 592 missense 0.683 possibly damaging 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs776983376 17p11.2 17 16720545A> G null D G 593 593 missense 0.702 possibly damaging 0.18 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1470290011 17p11.2 17 16720544G> A null D N 593 593 missense 0.767 possibly damaging 0.11 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs762196620 17p11.2 17 16720557C> T null S L 597 597 missense 0.009 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1298408248 17p11.2 17 16720561G> T null M I 598 598 missense 0.006 benign 0.07 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1416963919 17p11.2 17 16720560T> C null M T 598 598 missense 0.003 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs765329005 17p11.2 17 16720559A> G null M V 598 598 missense 0.0 benign 0.16 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1374979079 17p11.2 17 16720562G> T null E * 599 599 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ESP,ExAC,TOPMed,gnomAD rs199543560 17p11.2 17 16720563A> G null E G 599 599 missense 0.0 benign 0.31 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1282986005 17p11.2 17 16720565C> T null P S 600 600 missense 0.01 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1324692177 17p11.2 17 16720569C> T null S F 601 601 missense 0.08 benign 0.05 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs758309037 17p11.2 17 16720578C> G null A G 604 604 missense 0.026 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs751287346 17p11.2 17 16720581C> T null S L 605 605 missense 0.387 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1234843015 17p11.2 17 16720592G> C null E Q 609 609 missense 0.255 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1190806483 cosmic curated [Cosmic]: urinary_tract cosmic_study:413 17p11.2 17 16720601C> T null H Y 612 612 missense 0.0 benign 1.0 tolerated 1 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1178570427 17p11.2 17 16720608T> C null V A 614 614 missense 0.0 benign 0.17 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1480638141 17p11.2 17 16720607G> T null V F 614 614 missense 0.005 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1480638141 17p11.2 17 16720607G> C null V L 614 614 missense 0.0 benign 0.09 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,NCI-TCGA,TOPMed,gnomAD rs781022499 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16720613G> C null E Q 616 616 missense 0.01 benign 0.14 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1408868513 17p11.2 17 16720623T> C null M T 619 619 missense 0.003 benign 0.2 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1433915400 17p11.2 17 16720654T> A null Y * 629 629 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs987765991 17p11.2 17 16720653A> G null Y C 629 629 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs546773652 17p11.2 17 16727537C> A null S R 634 634 3.99E-4 missense 0.917 probably damaging 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,gnomAD rs546773652 17p11.2 17 16727537C> G null S R 634 634 3.99E-4 missense 0.917 probably damaging 0.1 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC rs769142301 17p11.2 17 16727539T> C null L P 635 635 missense 0.948 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1260980833 17p11.2 17 16727541C> T null P S 636 636 missense 0.0 benign 0.33 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs762104630 17p11.2 17 16727574C> T null H Y 647 647 missense 0.093 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1259739644 17p11.2 17 16727601T> C null C R 656 656 missense 0.102 benign 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1426978333 17p11.2 17 16727607C> G null Q E 658 658 missense 0.003 benign 0.17 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs765401760 17p11.2 17 16727614C> T null T I 660 660 missense 0.702 possibly damaging 0.15 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1326185929 17p11.2 17 16727629A> C null Q P 665 665 missense 0.839 possibly damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1202032712 17p11.2 17 16727640A> T null M L 669 669 missense 0.34 benign 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs566982418 17p11.2 17 16727641T> C null M T 669 669 7.99E-4 missense 0.565 possibly damaging 0.2 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,NCI-TCGA,TOPMed,gnomAD rs762948246 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16727660T> A null N K 675 675 missense 0.0 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1377143446 17p11.2 17 16727664C> G null L V 677 677 missense 0.838 possibly damaging 0.06 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs766279454 17p11.2 17 16727671A> G null E G 679 679 missense 0.887 possibly damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1295514608 17p11.2 17 16727686A> G null K R 684 684 missense 0.025 benign 0.07 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1396034441 17p11.2 17 16727694T> A null L I 687 687 missense 0.916 probably damaging 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed,gnomAD rs1292788044 17p11.2 17 16727703C> A null Q K 690 690 missense 0.702 possibly damaging 0.03 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A 1000Genomes,ExAC,TOPMed,gnomAD rs535655357 17p11.2 17 16727710T> C null I T 692 692 5.99E-4 missense 0.774 possibly damaging 0.04 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs754974502 17p11.2 17 16727713A> G null E G 693 693 missense 0.887 possibly damaging 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1281949247 17p11.2 17 16727716G> A null W * 694 694 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs767269404 17p11.2 17 16727717G> A null W * 694 694 stop gained 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1172643246 17p11.2 17 16727718G> A null E K 695 695 missense 0.953 probably damaging 0.12 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs752533454 17p11.2 17 16727721A> G null K E 696 696 missense 0.219 benign 0.05 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,gnomAD rs755740704 17p11.2 17 16727722A> G null K R 696 696 missense 0.702 possibly damaging 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1385494954 17p11.2 17 16727731A> G null Y C 699 699 missense 0.157 benign 0.66 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs753334002 17p11.2 17 16727733G> C null D H 700 700 missense 0.421 benign 0.01 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A ExAC,TOPMed,gnomAD rs753334002 17p11.2 17 16727733G> A null D N 700 700 missense 0.029 benign 0.3 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1308907143 17p11.2 17 16731824G> A null R K 710 710 missense 0.0 benign 0.28 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1001186105 17p11.2 17 16731829A> G null K E 712 712 missense 0.003 benign 0.0 deleterious 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1384166631 17p11.2 17 16731830A> G null K R 712 712 missense 0.205 benign 1.0 tolerated 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1371759805 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p11.2 17 16731839C> T null P L 715 715 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1286272118 17p11.2 17 16731838C> T null P S 715 715 missense 0.044 benign 0.68 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1170350211 17p11.2 17 16731843A> G null I M 716 716 missense 0.466 possibly damaging 0.39 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A gnomAD rs1202929124 17p11.2 17 16731848G> T null C F 718 718 missense 0.001 benign 0.11 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1424834457 17p11.2 17 16731850A> C null I L 719 719 missense 0.007 benign 0.61 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1185092026 17p11.2 17 16731853A> G null I V 720 720 missense 0.009 benign 0.54 tolerated - low confidence 0 A0A087WSY3 CCDC144A Coiled-coil domain-containing protein 144A TOPMed rs1485083960 17p11.2 17 16731857_16731873de l null K R 721 721 stop lost 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC rs765873664 13q14.13 13 46105003G> C null L V 3 3 missense 0.341 benign 0.09 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs919853660 13q14.13 13 46105000A> G null C R 4 4 missense 0.003 benign 0.23 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs755626420 13q14.13 13 46104995G> T null S R 5 5 missense 0.013 benign 0.42 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs755626420 13q14.13 13 46104995G> C null S R 5 5 missense 0.013 benign 0.42 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs981824936 13q14.13 13 46104990G> T null A E 7 7 missense 0.139 benign 0.27 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs750065132 13q14.13 13 46104991C> T null A T 7 7 missense 0.096 benign 0.39 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1355212461 13q14.13 13 46104979G> A null P S 11 11 missense 0.009 benign 0.11 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs762166525 13q14.13 13 46104976T> G null I L 12 12 missense 0.0 benign 0.37 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs762166525 13q14.13 13 46104976T> C null I V 12 12 missense 0.003 benign 1.0 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1267556089 13q14.13 13 46104972A> G null V A 13 13 missense 0.087 benign 0.93 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1476718489 13q14.13 13 46104973C> T null V I 13 13 missense 0.007 benign 0.48 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs774637078 13q14.13 13 46104969A> G null L P 14 14 missense 0.776 possibly damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,gnomAD rs139585903 13q14.13 13 46104961C> A null E * 17 17 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,gnomAD rs139585903 13q14.13 13 46104961C> T null E K 17 17 missense 0.024 benign 0.32 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1172733842 13q14.13 13 46104955G> T null H N 19 19 missense 0.012 benign 0.1 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs776036401 13q14.13 13 46104952C> T null V I 20 20 missense 0.197 benign 0.2 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,TOPMed,gnomAD rs201387014 13q14.13 13 46104947G> T null F L 21 21 2.0E-4 missense 0.007 benign 0.79 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1176389063 13q14.13 13 46104949A> G null F L 21 21 missense 0.007 benign 0.79 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs983812393 13q14.13 13 46104946C> T null A T 22 22 missense 0.104 benign 0.42 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,NCI-TCGA,TOPMed,gnomAD rs745915460 cosmic curated [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:328 13q14.13 13 46104945G> A null A V 22 22 missense 0.435 benign 0.17 tolerated 1 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs771211506 13q14.13 13 46104938C> G null Q H 24 24 missense 0.905 possibly damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,gnomAD rs555153445 13q14.13 13 46087815T> G null Q P 27 27 2.0E-4 missense 0.888 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes rs199765229 13q14.13 13 46087813C> T null V I 28 28 2.0E-4 missense 0.16 benign 0.03 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs773539147 13q14.13 13 46087806G> C null A G 30 30 missense 0.003 benign 0.16 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs147349005 13q14.13 13 46087803G> C null A G 31 31 missense 0.61 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs978458092 13q14.13 13 46087779A> G null V A 39 39 missense 0.073 benign 0.13 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1470636533 13q14.13 13 46087780C> G null V L 39 39 missense 0.202 benign 0.05 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1361709984 13q14.13 13 46087775T> G null Q H 40 40 missense 0.047 benign 0.13 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs756021492 13q14.13 13 46087774C> T null V I 41 41 missense 0.003 benign 1.0 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1161521257 13q14.13 13 46087770A> G null L P 42 42 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC rs745779789 13q14.13 13 46087766C> A null Q H 43 43 missense 0.924 probably damaging 0.24 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs968823252 13q14.13 13 46087759T> G null T P 46 46 missense 0.945 probably damaging 0.02 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1374070407 13q14.13 13 46087753T> C null T A 48 48 missense 0.012 benign 0.14 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs752282983 13q14.13 13 46084341A> C null I M 51 51 missense 0.959 probably damaging 0.03 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs755269455 13q14.13 13 46084339A> T null V D 52 52 missense 0.994 probably damaging 0.2 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs779404891 13q14.13 13 46084340C> A null V F 52 52 missense 0.525 possibly damaging 0.16 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,gnomAD rs368766293 13q14.13 13 46084337G> A null L F 53 53 missense 1.0 probably damaging 0.73 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs186705993 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:419 13q14.13 13 46084327G> A null P L 56 56 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs750468952 13q14.13 13 46084319C> T null A T 59 59 missense 0.682 possibly damaging 0.07 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs574629493 13q14.13 13 46084315T> C null D G 60 60 missense 0.24 benign 0.08 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1164578564 13q14.13 13 46084312A> G null L P 61 61 missense 0.771 possibly damaging 0.2 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1459922581 13q14.13 13 46084309A> G null I T 62 62 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1371792751 cosmic curated [Cosmic]: breast cosmic_study:414 13q14.13 13 46084302C> A null K N 64 64 missense 0.978 probably damaging 0.3 tolerated 1 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1252650839 13q14.13 13 46084303T> G null K T 64 64 missense 0.967 probably damaging 0.43 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,gnomAD rs200389755 13q14.13 13 46084299T> G null K N 65 65 2.0E-4 missense 0.003 benign 0.63 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs368381615 13q14.13 13 46084297T> G null K T 66 66 missense 0.003 benign 0.51 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs769677101 13q14.13 13 46084294T> G null Q P 67 67 missense 0.071 benign 0.03 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs769677101 13q14.13 13 46084294T> C null Q R 67 67 missense 0.038 benign 0.05 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs776583026 13q14.13 13 46084291A> G null V A 68 68 missense 0.22 benign 0.05 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1490241142 13q14.13 13 46084292C> T null V I 68 68 missense 0.22 benign 0.03 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1211362993 13q14.13 13 46084288T> C null H R 69 69 missense 0.885 possibly damaging 0.03 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs370566569 13q14.13 13 46084285A> T null F Y 70 70 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1280785871 13q14.13 13 46084281A> C null F L 71 71 missense 0.839 possibly damaging 0.36 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1327743530 13q14.13 13 46084282A> G null F S 71 71 missense 0.98 probably damaging 0.21 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1403999555 13q14.13 13 46084274C> T null A T 74 74 missense 0.127 benign 0.02 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199530853 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: cervix cosmic_study:415 13q14.13 13 46084262C> T null D N 78 78 missense 0.0 benign 0.57 tolerated 1 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs995205722 13q14.13 13 46084258T> A null N I 79 79 missense 0.001 benign 0.27 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs747877388 13q14.13 13 46084256C> A null V L 80 80 missense 0.499 possibly damaging 0.02 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1374712008 13q14.13 13 46084249G> A null A V 82 82 missense 0.011 benign 0.29 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1167913116 13q14.13 13 46084241T> A null N Y 85 85 missense 0.747 possibly damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs543856991 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung cosmic_study:417 13q14.13 13 46084232C> A null G * 88 88 missense 1 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs543856991 13q14.13 13 46084232C> T null G R 88 88 missense 0.003 benign 0.68 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs750961153 13q14.13 13 46084225G> A null P L 90 90 missense 0.003 benign 0.32 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1269800448 13q14.13 13 46084226G> A null P S 90 90 missense 0.023 benign 0.67 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs767675298 13q14.13 13 46084223A> T null C S 91 91 missense 0.0 benign 0.02 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs757260750 13q14.13 13 46084222C> T null C Y 91 91 missense 0.0 benign 1.0 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs764391460 13q14.13 13 46082549A> C null S R 92 92 missense 0.005 benign 0.57 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs752915693 13q14.13 13 46082543C> G null L F 94 94 missense 0.915 probably damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs758677294 13q14.13 13 46082544A> G null L S 94 94 missense 0.121 benign 0.06 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs148585456 13q14.13 13 46082541A> G null L P 95 95 missense 0.622 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs906281434 13q14.13 13 46082539C> T null A T 96 96 missense 0.062 benign 0.23 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC rs760443326 13q14.13 13 46082535T> C null D G 97 97 missense 0.341 benign 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs767289329 13q14.13 13 46082524G> C null L V 101 101 missense 0.16 benign 0.4 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1182972478 13q14.13 13 46082520A> G null I T 102 102 missense 0.944 probably damaging 0.02 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs761396353 13q14.13 13 46082517T> C null Q R 103 103 missense 0.001 benign 0.36 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs769143623 13q14.13 13 46082515G> A null Q * 104 104 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs768272393 13q14.13 13 46082511T> A null Q L 105 105 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,gnomAD rs201278346 13q14.13 13 46082502T> C null N S 108 108 2.0E-4 missense 0.46 possibly damaging 0.41 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs770303867 13q14.13 13 46082500C> T null D N 109 109 missense 0.019 benign 0.13 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1286055091 13q14.13 13 46082494C> T null V I 111 111 missense 0.018 benign 0.46 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1330588505 13q14.13 13 46082491T> C null S G 112 112 missense 0.012 benign 0.19 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs747538413 13q14.13 13 46082489G> T null S R 112 112 missense 0.02 benign 0.17 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1330588505 13q14.13 13 46082491T> G null S R 112 112 missense 0.02 benign 0.17 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs777896037 13q14.13 13 46082485G> A null R * 114 114 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs758445356 13q14.13 13 46082484C> T null R Q 114 114 missense 0.972 probably damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 Ensembl rs1566410404 13q14.13 13 46082479A> T null S T 116 116 missense 0.69 possibly damaging 0.47 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,TOPMed,gnomAD rs140871119 13q14.13 13 46082476C> A null A S 117 117 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,TOPMed,gnomAD rs140871119 13q14.13 13 46082476C> T null A T 117 117 3.99E-4 missense 0.003 benign 0.16 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs374795711 13q14.13 13 46082472G> T null S * 118 118 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,NCI-TCGA,gnomAD rs374795711 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 13q14.13 13 46082472G> A null S L 118 118 missense 0.112 benign 0.37 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1242181167 13q14.13 13 46082469T> C null Y C 119 119 missense 0.979 probably damaging 0.06 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1474834057 13q14.13 13 46082470A> G null Y H 119 119 missense 0.979 probably damaging 0.18 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1195464145 13q14.13 13 46082463T> C null E G 121 121 missense 0.944 probably damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,NCI-TCGA,TOPMed,gnomAD rs751480044 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 13q14.13 13 46082461G> A null Q * 122 122 missense 1 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs763119461 13q14.13 13 46082460_46082461insAC T null Q * 122 123 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs972520459 13q14.13 13 46082457T> C null Y C 123 123 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1292571120 13q14.13 13 46082454T> C null H R 124 124 missense 0.222 benign 0.02 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs997489030 13q14.13 13 46078900A> G null I T 129 129 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs747514704 13q14.13 13 46078901T> C null I V 129 129 missense 0.861 possibly damaging 0.03 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1437728654 13q14.13 13 46078891C> T null W * 132 132 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1273802380 13q14.13 13 46078889T> C null I V 133 133 missense 0.358 benign 0.17 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1258833244 13q14.13 13 46078879A> G null I T 136 136 missense 0.034 benign 0.24 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs778235571 13q14.13 13 46078876G> T null T N 137 137 missense 0.71 possibly damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs778235571 13q14.13 13 46078876G> C null T S 137 137 missense 0.084 benign 0.25 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 Ensembl rs1029011613 13q14.13 13 46078870C> T null R K 139 139 missense 0.0 benign 0.65 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1369524469 13q14.13 13 46078866A> C null H Q 140 140 missense 0.056 benign 0.05 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1220021860 13q14.13 13 46078868G> A null H Y 140 140 missense 0.0 benign 0.51 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs748189004 13q14.13 13 46078865G> T null P T 141 141 missense 0.331 benign 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1400877257 13q14.13 13 46078862C> T null D N 142 142 missense 0.012 benign 0.13 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1328502899 13q14.13 13 46078858A> C null M R 143 143 missense 0.044 benign 0.02 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1467708846 13q14.13 13 46078848T> G null K N 146 146 missense 0.945 probably damaging 0.02 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1434524520 13q14.13 13 46078843T> G null H P 148 148 missense 0.888 possibly damaging 0.2 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1176416018 13q14.13 13 46078844G> A null H Y 148 148 missense 0.024 benign 1.0 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs780886596 13q14.13 13 46078840A> G null I T 149 149 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs754082308 13q14.13 13 46078841T> C null I V 149 149 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 Ensembl rs1052986196 13q14.13 13 46078838C> T null G R 150 150 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs935420592 13q14.13 13 46078834G> A null S F 151 151 missense 0.386 benign 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1200607683 13q14.13 13 46078821C> G null K N 155 155 missense 0.978 probably damaging 0.41 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,gnomAD rs145039536 13q14.13 13 46078822T> C null K R 155 155 missense 0.967 probably damaging 0.24 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs61730120 13q14.13 13 46078819T> A null Y F 156 156 missense 0.207 benign 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs757052810 13q14.13 13 46078820A> G null Y H 156 156 missense 0.003 benign 0.07 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs944258391 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 13q14.13 13 46078811A> G null Y H 159 159 missense 0.596 possibly damaging 0.07 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138361180 13q14.13 13 46078808C> T null V I 160 160 2.0E-4 missense 0.073 benign 0.1 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1429990892 13q14.13 13 46073976A> T null V D 163 163 missense 0.908 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3742264 pubmed:14702039,pubmed:1939207 13q14.13 13 46073959C> T null A T 169 169 0.3073 missense 0.0 benign 0.84 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1193282604 13q14.13 13 46073953T> C null K E 171 171 missense 0.202 benign 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs754492932 13q14.13 13 46073938T> G null I L 176 176 missense 0.814 possibly damaging 0.07 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140446990 13q14.13 13 46073934T> C null D G 177 177 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 Ensembl rs1198030126 13q14.13 13 46073928C> A null G V 179 179 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs766017165 cosmic curated [Cosmic]: NS pubmed:22722201,cosmic_study:385 13q14.13 13 46073916C> G null R T 183 183 missense 0.967 probably damaging 0.0 deleterious 1 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs374341270 13q14.13 13 46073909C> T null W * 185 185 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1477308441 13q14.13 13 46073901G> C null P R 188 188 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1168031728 13q14.13 13 46073899C> T null A T 189 189 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1341933965 13q14.13 13 46073895A> G null F S 190 190 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs767860927 13q14.13 13 46073888C> A null L F 192 192 missense 0.976 probably damaging 0.11 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1403417093 13q14.13 13 46073886C> T null W * 193 193 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs762342791 13q14.13 13 46073880A> G null I T 195 195 missense 0.041 benign 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1459881140 13q14.13 13 46073875G> A null H Y 197 197 missense 0.0 benign 0.24 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1158987975 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 13q14.13 13 46064738G> A null R * 199 199 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1421470073 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23856246,cosmic_study:504 13q14.13 13 46064737C> T null R Q 199 199 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,NCI-TCGA,gnomAD rs777028100 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung cosmic_study:418 13q14.13 13 46064730C> T null W * 201 201 missense 1 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,gnomAD rs377401738 13q14.13 13 46064720G> A null R C 205 205 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs761531467 13q14.13 13 46064719C> T null R H 205 205 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,gnomAD rs377401738 13q14.13 13 46064720G> T null R S 205 205 missense 0.413 benign 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed rs758148937 13q14.13 13 46064710du p null Y * 208 208 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs374776365 13q14.13 13 46064707G> T null A E 209 209 missense 0.001 benign 0.9 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374776365 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 13q14.13 13 46064707G> A null A V 209 209 missense 0.003 benign 0.13 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1217730927 13q14.13 13 46064702T> A null N Y 211 211 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs996861514 cosmic curated [Cosmic]: lung cosmic_study:583 13q14.13 13 46064699G> T null H N 212 212 missense 0.023 benign 0.45 tolerated 1 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1288429373 13q14.13 13 46064695C> T null C Y 213 213 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs745575682 13q14.13 13 46064690C> T null G R 215 215 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1285994791 13q14.13 13 46064689C> A null G V 215 215 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1398416151 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 13q14.13 13 46064686G> A null T I 216 216 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1398416151 13q14.13 13 46064686G> C null T R 216 216 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1340068076 13q14.13 13 46064680A> G null L P 218 218 missense 0.997 probably damaging 0.14 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,TOPMed rs372146344 13q14.13 13 46064675T> C null R G 220 220 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1218342393 13q14.13 13 46064671T> C null N S 221 221 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1264314508 13q14.13 13 46064660T> G null K Q 225 225 missense 0.924 probably damaging 0.18 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs756960778 13q14.13 13 46064656T> G null H P 226 226 missense 0.97 probably damaging 0.06 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1488275918 13q14.13 13 46064657G> A null H Y 226 226 missense 0.149 benign 0.28 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 Ensembl rs867373750 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 13q14.13 13 46064654A> G null W R 227 227 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,gnomAD rs555002709 13q14.13 13 46064650C> T null C Y 228 228 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1390019206 13q14.13 13 46058381T> C null E G 229 229 missense 0.045 benign 0.32 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC rs756784514 13q14.13 13 46058369_46058370insTAAGTGCTACTTAATTATTTTTCTCATTAGCATTTTGGAAATA A null S F 233 233 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,gnomAD rs542442684 13q14.13 13 46058365A> C null S R 234 234 3.99E-4 missense 0.162 benign 0.39 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,gnomAD rs574588968 13q14.13 13 46058363G> A null S F 235 235 2.0E-4 missense 0.0 benign 0.9 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1287244801 13q14.13 13 46058360G> A null S L 236 236 missense 0.92 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs932147911 13q14.13 13 46058354G> A null S L 238 238 missense 0.613 possibly damaging 0.03 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1423542334 13q14.13 13 46058355A> G null S P 238 238 missense 0.877 possibly damaging 0.03 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1332881775 13q14.13 13 46058352C> A null E * 239 239 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs777244269 13q14.13 13 46058351T> C null E G 239 239 missense 0.894 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1464433241 13q14.13 13 46058343A> G null C R 242 242 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1457418927 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 13q14.13 13 46058333T> C null Y C 245 245 missense 0.979 probably damaging 0.09 tolerated 1 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs139468136 13q14.13 13 46058334A> G null Y H 245 245 missense 0.238 benign 0.26 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs139468136 13q14.13 13 46058334A> T null Y N 245 245 missense 0.899 possibly damaging 0.15 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1258769795 13q14.13 13 46058330G> T null P H 246 246 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1258769795 13q14.13 13 46058330G> A null P L 246 246 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1473328778 13q14.13 13 46058316C> T null E K 251 251 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1046358643 13q14.13 13 46058313C> T null V M 252 252 missense 0.921 probably damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 Ensembl rs947994725 13q14.13 13 46058308C> G null K N 253 253 missense 0.839 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 Ensembl rs1566396096 13q14.13 13 46058304C> T null V M 255 255 missense 0.29 benign 0.07 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1310625125 13q14.13 13 46058300G> T null A D 256 256 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs755604530 13q14.13 13 46058297C> T null S N 257 257 missense 0.0 benign 0.63 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC rs754395886 13q14.13 13 46058296A> C null S R 257 257 missense 0.056 benign 0.17 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs766611053 13q14.13 13 46058288C> T null R K 260 260 missense 0.999 probably damaging 0.05 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,gnomAD rs564181491 13q14.13 13 46058280T> G null I L 263 263 2.0E-4 missense 0.012 benign 0.49 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,gnomAD rs564181491 13q14.13 13 46058280T> C null I V 263 263 2.0E-4 missense 0.012 benign 0.09 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs767565541 13q14.13 13 46058274G> A null Q * 265 265 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,gnomAD rs558696589 13q14.13 13 46058272C> A null Q H 265 265 2.0E-4 missense 0.0 benign 0.43 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1332741602 13q14.13 13 46058265C> T null A T 268 268 missense 0.923 probably damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1400684255 13q14.13 13 46058264G> A null A V 268 268 missense 0.959 probably damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs759509065 13q14.13 13 46058262A> T null Y N 269 269 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs776528111 13q14.13 13 46058259T> G null I L 270 270 missense 0.499 possibly damaging 0.89 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs907897258 13q14.13 13 46058252A> G null M T 272 272 missense 0.462 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1415473298 13q14.13 13 46058250G> A null H Y 273 273 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1361361073 13q14.13 13 46058240G> A null S F 276 276 missense 0.065 benign 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs982716199 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 13q14.13 13 46058231A> G null I T 279 279 missense 0.925 probably damaging 0.0 deleterious 1 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs772924574 13q14.13 13 46058232T> C null I V 279 279 missense 0.163 benign 0.42 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs771568397 13q14.13 13 46058225A> G null F S 281 281 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1383299295 13q14.13 13 46058226A> C null F V 281 281 missense 0.89 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1482400993 13q14.13 13 46058222G> T null P Q 282 282 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,gnomAD rs576834540 13q14.13 13 46058219T> C null Y C 283 283 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs779491029 13q14.13 13 46058210G> A null T I 286 286 missense 0.207 benign 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs779491029 13q14.13 13 46058210G> C null T R 286 286 missense 0.088 benign 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,TOPMed,gnomAD rs183048225 13q14.13 13 46058208G> A null R * 287 287 9.98E-4 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs376421547 13q14.13 13 46058207C> A null R L 287 287 missense 0.105 benign 0.38 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376421547 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:375 13q14.13 13 46058207C> T null R Q 287 287 missense 0.16 benign 0.15 tolerated 1 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs750410742 13q14.13 13 46058202T> C null K E 289 289 missense 0.72 possibly damaging 0.47 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs372153722 13q14.13 13 46058187C> T null E K 294 294 missense 0.05 benign 0.39 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs757486677 13q14.13 13 46058184C> T null E K 295 295 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 Ensembl rs200972717 13q14.13 13 46058181G> C null L V 296 296 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1362984635 13q14.13 13 46055845A> G null L P 298 298 missense 0.674 possibly damaging 0.27 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,TOPMed,gnomAD rs184648402 13q14.13 13 46055843C> A null V L 299 299 3.99E-4 missense 0.015 benign 1.0 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1476316178 13q14.13 13 46055839G> A null A V 300 300 missense 0.956 probably damaging 0.12 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,TOPMed,gnomAD rs367588954 13q14.13 13 46055836C> G null S T 301 301 missense 0.465 possibly damaging 0.04 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs754773221 13q14.13 13 46055831C> G null A P 303 303 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs754773221 13q14.13 13 46055831C> T null A T 303 303 missense 0.923 probably damaging 0.1 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,NCI-TCGA,gnomAD rs753574889 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 13q14.13 13 46055825G> A null R C 305 305 missense 0.761 possibly damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs957075264 13q14.13 13 46055824C> T null R H 305 305 missense 0.005 benign 0.26 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1272478737 13q14.13 13 46055816C> T null E K 308 308 missense 0.003 benign 0.87 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1926447 pubmed:14702039,pubmed:15489334,pubmed:1939207 13q14.13 13 46055809A> G null I T 310 310 0.2169 missense 0.003 benign 0.55 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1214952839 13q14.13 13 46055806C> A null S I 311 311 missense 0.622 possibly damaging 0.33 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1260780467 13q14.13 13 46055797G> A null T I 314 314 missense 0.001 benign 0.22 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1191108882 13q14.13 13 46055793C> G null R S 315 315 missense 0.06 benign 0.08 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ExAC,TOPMed,gnomAD rs202020888 13q14.13 13 46055778A> C null H Q 320 320 2.0E-4 missense 0.023 benign 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs761362571 cosmic curated [Cosmic]: liver cosmic_study:322 13q14.13 13 46055779T> C null H R 320 320 missense 0.0 benign 0.02 deleterious 1 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1306959815 13q14.13 13 46055777C> T null G S 321 321 missense 0.534 possibly damaging 0.1 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs898855008 13q14.13 13 46055770T> C null E G 323 323 missense 0.786 possibly damaging 0.11 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1390568950 13q14.13 13 46055768T> C null T A 324 324 missense 0.087 benign 0.03 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs762680223 13q14.13 13 46055767G> T null T N 324 324 missense 0.012 benign 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1296604429 13q14.13 13 46055764A> G null L S 325 325 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1374822188 13q14.13 13 46053797G> T null Y * 326 326 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1463144267 13q14.13 13 46055762A> G null Y H 326 326 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs767417945 13q14.13 13 46053784C> T null G S 331 331 missense 0.953 probably damaging 0.06 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1201899079 13q14.13 13 46053781C> T null G R 332 332 missense 0.12 benign 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1170601723 13q14.13 13 46053778C> T null D N 333 333 missense 0.315 benign 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC rs756837252 13q14.13 13 46053775C> T null D N 334 334 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1377964747 13q14.13 13 46053769T> A null I F 336 336 missense 0.517 possibly damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1195465592 13q14.13 13 46053763C> T null D N 338 338 missense 1.0 probably damaging 0.1 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1441746606 13q14.13 13 46053748A> G null Y H 343 343 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs763691394 13q14.13 13 46053742A> G null F L 345 345 missense 0.675 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs762733385 13q14.13 13 46053739T> C null T A 346 346 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs775185391 13q14.13 13 46053736T> C null I V 347 347 missense 0.628 possibly damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs143005979 13q14.13 13 46053733C> A null E * 348 348 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1439719226 13q14.13 13 46053732T> A null E V 348 348 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1249731071 13q14.13 13 46053729A> G null L P 349 349 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1344815032 13q14.13 13 46053727G> C null R G 350 350 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs759905892 13q14.13 13 46053722A> T null D E 351 351 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1237191853 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 13q14.13 13 46053720G> T null T K 352 352 missense 0.005 benign 1.0 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1237191853 13q14.13 13 46053720G> A null T M 352 352 missense 0.814 possibly damaging 0.03 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1237191853 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 13q14.13 13 46053720G> C null T R 352 352 missense 0.02 benign 0.74 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed,gnomAD rs1352085268 13q14.13 13 46053717C> T null G D 353 353 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1036684537 13q14.13 13 46053715T> G null T P 354 354 missense 0.071 benign 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs747504135 13q14.13 13 46053710G> C null Y * 355 355 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs747504135 13q14.13 13 46053710G> T null Y * 355 355 stop gained 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs772111577 13q14.13 13 46053708C> G null G A 356 356 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,NCI-TCGA,gnomAD rs773350527 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 13q14.13 13 46053709C> T null G R 356 356 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,TOPMed,gnomAD rs755862179 13q14.13 13 46053702A> G null L S 358 358 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1379534752 13q14.13 13 46053694C> G null E Q 361 361 missense 0.043 benign 0.11 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1159173693 13q14.13 13 46053679G> A null P S 366 366 missense 1.0 probably damaging 0.06 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 Ensembl rs907629877 13q14.13 13 46053673A> C null C G 368 368 missense 0.844 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1225402924 13q14.13 13 46053670T> C null R G 369 369 missense 0.015 benign 0.17 tolerated 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs144737343 13q14.13 13 46053667C> T null E K 370 370 missense 0.746 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 Ensembl rs267603833 cosmic curated [Cosmic]: skin pubmed:20016485,cosmic_study:311 13q14.13 13 46053660A> G null F S 372 372 missense 0.098 benign 0.01 deleterious 1 A0A087WSY5 CPB2 Carboxypeptidase B2 ESP,ExAC,TOPMed,gnomAD rs149340797 13q14.13 13 46053655C> T null A T 374 374 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 ExAC,gnomAD rs757876057 13q14.13 13 46053651A> C null V G 375 375 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 TOPMed rs1197450067 13q14.13 13 46053640C> G null A P 379 379 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145067962 13q14.13 13 46053627A> T null I N 383 383 0.001398 missense 0.721 possibly damaging 0.0 deleterious 0 A0A087WSY5 CPB2 Carboxypeptidase B2 gnomAD rs1352982238 13q14.13 13 46053616A> T null * K 387 387 stop lost 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1425481123 2p11.2 2 90114891A> G null E G 2 2 missense 0.608 possibly damaging 0.5 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs560339287 2p11.2 2 90114893G> A null A T 3 3 2.0E-4 missense 0.007 benign 0.43 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs774602445 2p11.2 2 90114897C> G null P R 4 4 missense 0.927 probably damaging 0.04 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs769543587 2p11.2 2 90114896C> T null P S 4 4 missense 0.894 possibly damaging 0.04 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs527863790 2p11.2 2 90114899G> A null A T 5 5 3.99E-4 missense 0.029 benign 0.28 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs772168614 2p11.2 2 90114900C> T null A V 5 5 missense 0.02 benign 0.06 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs766862406 2p11.2 2 90114903A> C null Q P 6 6 missense 0.798 possibly damaging 0.07 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs754337982 2p11.2 2 90114905C> T null L F 7 7 missense 0.535 possibly damaging 0.14 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs760026976 2p11.2 2 90114906T> C null L P 7 7 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC rs765645883 2p11.2 2 90114908C> T null L F 8 8 missense 0.165 benign 0.22 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs758054774 2p11.2 2 90114912T> A null F Y 9 9 missense 0.611 possibly damaging 1.0 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs972518603 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90114914C> T null L F 10 10 missense 0.397 benign 0.18 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1308962090 2p11.2 2 90114921T> C null L P 12 12 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1308962090 2p11.2 2 90114921T> G null L R 12 12 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367563016 2p11.2 2 90114923C> T null L F 13 13 0.004193 missense 0.168 benign 0.1 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367563016 2p11.2 2 90114923C> G null L V 13 13 0.004193 missense 0.047 benign 0.02 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1184435724 2p11.2 2 90114928G> T null W C 14 14 missense 1.0 probably damaging 0.05 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs201105102 2p11.2 2 90114932C> G null P A 16 16 2.0E-4 missense 0.93 probably damaging 0.04 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs201105102 2p11.2 2 90114932C> T null P S 16 16 2.0E-4 missense 0.956 probably damaging 0.55 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1169747214 2p11.2 2 90115105A> G null D G 17 17 missense 0.003 benign 1.0 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs972873645 2p11.2 2 90115107A> G null T A 18 18 missense 0.019 benign 0.8 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1024040698 2p11.2 2 90115108C> T null T I 18 18 missense 0.031 benign 0.05 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1024040698 2p11.2 2 90115108C> A null T N 18 18 missense 0.596 possibly damaging 0.03 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1373015837 2p11.2 2 90115111C> T null T I 19 19 missense 0.045 benign 0.21 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1483235582 2p11.2 2 90115114G> A null G E 20 20 missense 0.316 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1254785018 2p11.2 2 90115113G> A null G R 20 20 missense 0.316 benign 0.03 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1201076706 2p11.2 2 90115118A> C null E D 21 21 missense 0.048 benign 1.0 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs1317588263 2p11.2 2 90115123T> G null V G 23 23 missense 0.119 benign 0.03 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs753050835 2p11.2 2 90115122G> C null V L 23 23 missense 0.301 benign 0.05 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs753050835 2p11.2 2 90115122G> A null V M 23 23 missense 0.301 benign 0.03 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1328614324 2p11.2 2 90115126T> C null M T 24 24 missense 0.009 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs763393125 2p11.2 2 90115128A> G null T A 25 25 missense 0.842 possibly damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs58615617 2p11.2 2 90115129C> T null T M 25 25 0.08426 missense 0.693 possibly damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs58615617 2p11.2 2 90115129C> G null T R 25 25 0.08426 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1451123249 2p11.2 2 90115131C> T null Q * 26 26 stop gained 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1173755611 2p11.2 2 90115132A> T null Q L 26 26 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1466551397 2p11.2 2 90115134T> A null S T 27 27 missense 0.255 benign 0.23 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1385826412 2p11.2 2 90115141C> A null A D 29 29 missense 0.109 benign 0.18 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1433818233 2p11.2 2 90115144C> G null T S 30 30 missense 0.031 benign 1.0 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs866126031 2p11.2 2 90115146C> A null L M 31 31 missense 0.954 probably damaging 0.08 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs751197966 2p11.2 2 90115152G> T null V L 33 33 missense 0.0 benign 0.33 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1194957071 2p11.2 2 90115165A> C null E A 37 37 missense 0.926 probably damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs569894180 2p11.2 2 90115164G> A null E K 37 37 2.0E-4 missense 0.926 probably damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs569894180 2p11.2 2 90115164G> C null E Q 37 37 2.0E-4 missense 0.678 possibly damaging 0.14 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1299690914 2p11.2 2 90115167A> G null R G 38 38 missense 0.019 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs935877347 2p11.2 2 90115168G> T null R I 38 38 missense 0.131 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs935877347 2p11.2 2 90115168G> A null R K 38 38 missense 0.011 benign 0.21 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1312117578 2p11.2 2 90115169A> C null R S 38 38 missense 0.085 benign 0.12 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs1490647599 2p11.2 2 90115171C> A null A D 39 39 missense 0.889 possibly damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1234676001 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90115170G> A null A T 39 39 missense 0.165 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1257775942 2p11.2 2 90115174C> T null T I 40 40 missense 0.436 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs536935332 2p11.2 2 90115180C> T null S F 42 42 2.0E-4 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs536935332 2p11.2 2 90115180C> A null S Y 42 42 2.0E-4 missense 0.968 probably damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs915198406 2p11.2 2 90115183G> T null C F 43 43 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs915198406 2p11.2 2 90115183G> A null C Y 43 43 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1466454614 2p11.2 2 90115186G> A null R K 44 44 missense 0.033 benign 0.92 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1189245927 2p11.2 2 90115188G> A null A T 45 45 missense 0.07 benign 0.07 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs1329436965 2p11.2 2 90115189C> T null A V 45 45 missense 0.585 possibly damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1178152233 2p11.2 2 90115191A> T null S C 46 46 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1409079920 2p11.2 2 90115192G> C null S T 46 46 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1159318266 2p11.2 2 90115194C> G null Q E 47 47 missense 0.047 benign 0.12 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs749140293 2p11.2 2 90115196G> T null Q H 47 47 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1390341419 2p11.2 2 90115195A> G null Q R 47 47 missense 0.793 possibly damaging 0.02 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1292131216 2p11.2 2 90115197A> T null S C 48 48 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1292131216 2p11.2 2 90115197A> G null S G 48 48 missense 0.042 benign 0.23 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1285778974 2p11.2 2 90115210A> G null N S 52 52 missense 0.0 benign 0.37 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1387785387 2p11.2 2 90115209A> T null N Y 52 52 missense 0.0 benign 1.0 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs768408641 2p11.2 2 90115216C> A null A D 54 54 missense 0.426 benign 0.2 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1227831114 2p11.2 2 90115215G> T null A S 54 54 missense 0.023 benign 0.3 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs747203810 2p11.2 2 90115220G> C null W C 55 55 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,gnomAD rs573276690 2p11.2 2 90115219G> C null W S 55 55 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs770944896 2p11.2 2 90115223C> G null Y * 56 56 stop gained 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1488705142 2p11.2 2 90115221T> G null Y D 56 56 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1488705142 2p11.2 2 90115221T> C null Y H 56 56 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ESP,ExAC,TOPMed,gnomAD rs200241649 2p11.2 2 90115227C> A null Q K 58 58 missense 0.11 benign 0.02 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1472245278 2p11.2 2 90115230A> G null K E 59 59 missense 0.57 possibly damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs746387331 2p11.2 2 90115234C> A null P H 60 60 missense 0.927 probably damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs746387331 2p11.2 2 90115234C> T null P L 60 60 missense 0.109 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1167664274 2p11.2 2 90115233C> A null P T 60 60 missense 0.7 possibly damaging 0.02 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1349621024 2p11.2 2 90115243C> A null A D 63 63 missense 0.701 possibly damaging 0.02 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1163638960 2p11.2 2 90115242G> C null A P 63 63 missense 0.048 benign 0.13 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1349621024 2p11.2 2 90115243C> T null A V 63 63 missense 0.048 benign 0.06 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1458714518 2p11.2 2 90115245C> T null P S 64 64 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs770477767 2p11.2 2 90115249G> A null R K 65 65 missense 0.118 benign 1.0 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs764501822 2p11.2 2 90115252T> C null L P 66 66 missense 0.168 benign 0.03 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs763455110 2p11.2 2 90115251C> G null L V 66 66 missense 0.496 possibly damaging 0.02 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs761489974 2p11.2 2 90115254C> T null L F 67 67 missense 0.397 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1224395093 2p11.2 2 90115261A> T null Y F 69 69 missense 0.109 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs766943864 2p11.2 2 90115260T> C null Y H 69 69 missense 0.07 benign 0.04 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1482679189 2p11.2 2 90115264G> C null G A 70 70 missense 0.003 benign 0.84 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1482679189 2p11.2 2 90115264G> A null G D 70 70 missense 0.003 benign 0.53 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs889961345 2p11.2 2 90115263G> A null G S 70 70 missense 0.007 benign 0.74 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs766371654 2p11.2 2 90115266G> A null A T 71 71 missense 0.177 benign 0.06 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs778727506 2p11.2 2 90115269T> G null S A 72 72 missense 0.422 benign 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs1347404649 2p11.2 2 90115270C> T null S F 72 72 missense 0.119 benign 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs778727506 2p11.2 2 90115269T> A null S T 72 72 missense 0.125 benign 0.14 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs1286417449 2p11.2 2 90115272A> T null I F 73 73 missense 0.001 benign 0.02 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77198710 2p11.2 2 90115273T> A null I N 73 73 0.22 missense 0.0 benign 1.0 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77198710 2p11.2 2 90115273T> C null I T 73 73 0.22 missense 0.0 benign 0.81 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs1286417449 2p11.2 2 90115272A> G null I V 73 73 missense 0.017 benign 0.02 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs1412468075 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90115276G> A null R K 74 74 missense 0.777 possibly damaging 0.37 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs776193045 2p11.2 2 90115279C> A null A D 75 75 missense 0.554 possibly damaging 0.27 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs769959508 2p11.2 2 90115278G> A null A T 75 75 missense 0.061 benign 0.39 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs776193045 2p11.2 2 90115279C> T null A V 75 75 missense 0.061 benign 0.51 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199589275 2p11.2 2 90115282C> T null T I 76 76 0.002995 missense 0.864 possibly damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ESP,ExAC,TOPMed,gnomAD rs373096561 2p11.2 2 90115289C> G null I M 78 78 missense 0.392 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs768937270 2p11.2 2 90115287A> G null I V 78 78 missense 0.047 benign 1.0 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1283712050 2p11.2 2 90115291C> A null P Q 79 79 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs761388336 2p11.2 2 90115294C> G null A G 80 80 missense 0.007 benign 0.04 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1248513422 2p11.2 2 90115297G> A null R K 81 81 missense 0.786 possibly damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs767260238 2p11.2 2 90115298G> T null R S 81 81 missense 0.894 possibly damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs760218449 2p11.2 2 90115300T> C null F S 82 82 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1440669595 2p11.2 2 90115303G> A null S N 83 83 missense 0.923 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs897426524 2p11.2 2 90115302A> C null S R 83 83 missense 0.308 benign 0.03 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes rs572327598 2p11.2 2 90115305G> T null G C 84 84 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs753802762 2p11.2 2 90115306G> A null G D 84 84 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs754876631 2p11.2 2 90115309G> A null S N 85 85 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1483996987 2p11.2 2 90115311G> T null G W 86 86 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1388669300 2p11.2 2 90115315C> G null S C 87 87 missense 0.976 probably damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs752592251 2p11.2 2 90115320A> G null T A 89 89 missense 0.97 probably damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs564633486 2p11.2 2 90115321C> T null T I 89 89 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs564633486 2p11.2 2 90115321C> A null T K 89 89 2.0E-4 missense 0.993 probably damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs752592251 2p11.2 2 90115320A> C null T P 89 89 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs564633486 2p11.2 2 90115321C> G null T R 89 89 2.0E-4 missense 0.995 probably damaging 0.02 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1413328810 2p11.2 2 90115324A> C null E A 90 90 missense 0.091 benign 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs971132472 2p11.2 2 90115325G> C null E D 90 90 missense 0.0 benign 1.0 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs746069349 2p11.2 2 90115329A> G null T A 92 92 missense 0.613 possibly damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs746069349 2p11.2 2 90115329A> C null T P 92 92 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs756289020 2p11.2 2 90115332C> G null L V 93 93 missense 0.529 possibly damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs749766298 2p11.2 2 90115336C> A null T N 94 94 missense 0.308 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs979849769 2p11.2 2 90115341A> C null S R 96 96 missense 0.168 benign 0.02 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190666649 2p11.2 2 90115345T> G null I S 97 97 0.1823 missense 0.0 benign 1.0 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs772293722 2p11.2 2 90115347C> A null L M 98 98 missense 0.972 probably damaging 0.14 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs772293722 2p11.2 2 90115347C> G null L V 98 98 missense 0.221 benign 0.81 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,gnomAD rs770431111 2p11.2 2 90115350C> T null Q * 99 99 stop gained 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs3899433 2p11.2 2 90115354C> G null S C 100 100 missense 0.438 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 ExAC,TOPMed,gnomAD rs3899433 2p11.2 2 90115354C> T null S F 100 100 missense 0.125 benign 0.03 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1247012479 2p11.2 2 90115353T> C null S P 100 100 missense 0.0 benign 0.7 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1194338177 2p11.2 2 90115360A> C null D A 102 102 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1194338177 2p11.2 2 90115360A> G null D G 102 102 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs957239988 2p11.2 2 90115363T> A null F Y 103 103 missense 0.363 benign 1.0 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,gnomAD rs529270807 2p11.2 2 90115366C> G null A G 104 104 2.0E-4 missense 0.005 benign 0.37 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,gnomAD rs562099442 2p11.2 2 90115365G> T null A S 104 104 3.99E-4 missense 0.576 possibly damaging 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,gnomAD rs529270807 2p11.2 2 90115366C> T null A V 104 104 2.0E-4 missense 0.105 benign 0.01 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs990449796 2p11.2 2 90115368G> T null V F 105 105 missense 0.852 possibly damaging 0.44 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs990449796 2p11.2 2 90115368G> A null V I 105 105 missense 0.11 benign 0.33 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs990449796 2p11.2 2 90115368G> C null V L 105 105 missense 0.076 benign 0.44 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed,gnomAD rs1425909854 2p11.2 2 90115372A> G null Y C 106 106 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373519872 2p11.2 2 90115385G> C null Q H 110 110 2.0E-4 missense 0.028 benign 0.05 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1388176879 2p11.2 2 90115390A> G null N S 112 112 missense 0.0 benign 0.49 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1319977745 2p11.2 2 90115393A> T null N I 113 113 missense 0.058 benign 0.03 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 gnomAD rs1436166988 2p11.2 2 90115392A> T null N Y 113 113 missense 0.005 benign 0.06 tolerated 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs71241757 2p11.2 2 90115397G> A null W * 114 114 0.02256 stop gained 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 TOPMed rs1339581746 2p11.2 2 90115396G> A null W * 114 114 stop gained 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs532993383 2p11.2 2 90115398C> T null P S 115 115 5.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY6 IGKV3D-15 Immunoglobulin kappa variable 3D-15 1000Genomes,ExAC,TOPMed,gnomAD rs532993383 2p11.2 2 90115398C> A null P T 115 115 5.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY7 TSPY3 Testis-specific Y-encoded protein 3 Ensembl rs1556181266 Yp11.2 Y 9398857T> A null S T 44 44 missense 0.154 benign 0.16 tolerated 0 A0A087WSY7 TSPY3 Testis-specific Y-encoded protein 3 Ensembl rs1556181276 Yp11.2 Y 9398905C> T null R C 60 60 missense 0.981 probably damaging 0.04 deleterious 0 A0A087WSY7 TSPY3 Testis-specific Y-encoded protein 3 Ensembl rs1219141147 Yp11.2 Y 9399817C> T null R W 119 119 missense 0.991 probably damaging 0.16 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1255069083 12q23.3 12 104215807G> C null G A 2 2 missense 0.35 benign 0.0 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1178067333 12q23.3 12 104215810G> T null C F 3 3 missense 0.648 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1237546693 12q23.3 12 104215811C> G null C W 3 3 missense 0.91 probably damaging 0.0 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1178067333 12q23.3 12 104215810G> A null C Y 3 3 missense 0.648 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1417226779 12q23.3 12 104215812G> A null A T 4 4 missense 0.007 benign 0.24 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs201664754 12q23.3 12 104215816A> G null E G 5 5 missense 0.025 benign 0.02 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199751825 12q23.3 12 104215818G> A null G S 6 6 3.99E-4 missense 0.0 benign 0.82 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1396176765 12q23.3 12 104215821A> G null K E 7 7 missense 0.081 benign 0.0 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1461549913 12q23.3 12 104215824G> T null A S 8 8 missense 0.0 benign 0.31 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1476767117 12q23.3 12 104215825C> T null A V 8 8 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1330075052 12q23.3 12 104215828T> C null V A 9 9 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1371891861 12q23.3 12 104215831C> G null A G 10 10 missense 0.0 benign 0.49 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1265286625 12q23.3 12 104215830G> T null A S 10 10 missense 0.017 benign 0.37 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1308264234 12q23.3 12 104215833G> A null A T 11 11 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1023587843 12q23.3 12 104215834C> T null A V 11 11 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1243021341 12q23.3 12 104215837C> T null A V 12 12 missense 0.056 benign 0.01 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1481621459 12q23.3 12 104215845A> G null T A 15 15 missense 0.007 benign 0.63 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1178895638 12q23.3 12 104215846C> G null T R 15 15 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1481621459 12q23.3 12 104215845A> T null T S 15 15 missense 0.0 benign 0.75 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,TOPMed,gnomAD rs550366001 12q23.3 12 104215848G> T null E * 16 16 5.99E-4 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,TOPMed,gnomAD rs550366001 12q23.3 12 104215848G> C null E Q 16 16 5.99E-4 missense 0.003 benign 0.37 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1419647714 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104215872G> A null G S 24 24 missense 0.001 benign 0.72 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs774529357 12q23.3 12 104215882G> A null R H 27 27 missense 0.202 benign 0.22 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1352271836 12q23.3 12 104215884C> G null R G 28 28 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1175920674 12q23.3 12 104251527C> G null A G 31 31 missense 0.986 probably damaging 0.09 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1304103141 12q23.3 12 104215893G> T null A S 31 31 missense 0.986 probably damaging 0.5 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1475543368 12q23.3 12 104251529A> G null K E 32 32 missense 0.003 benign 0.6 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs768840448 12q23.3 12 104251533A> G null D G 33 33 missense 0.001 benign 0.48 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs368547476 12q23.3 12 104251538C> G null H D 35 35 missense 0.048 benign 0.33 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs762164854 12q23.3 12 104251544G> A null G S 37 37 missense 0.0 benign 0.52 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1157286093 12q23.3 12 104251557C> G null P R 41 41 missense 0.206 benign 0.03 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,NCI-TCGA,gnomAD rs773611266 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104251561G> T null E D 42 42 missense 0.001 benign 0.36 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1258194469 12q23.3 12 104251559G> A null E K 42 42 missense 0.001 benign 0.63 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs750840443 12q23.3 12 104251562A> T null N Y 43 43 missense 0.118 benign 0.04 deleterious - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs765769149 12q23.3 12 104251572G> T null G V 46 46 missense 0.718 possibly damaging 0.11 tolerated - low confidence 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs751247196 12q23.3 12 104251583A> G null T A 50 50 missense 0.003 benign 0.7 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,gnomAD rs528142539 12q23.3 12 104251584C> T null T M 50 50 2.0E-4 missense 0.407 benign 0.09 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs751247196 12q23.3 12 104251583A> C null T P 50 50 missense 0.264 benign 0.37 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs755913996 12q23.3 12 104251587C> G null A G 51 51 missense 0.055 benign 0.33 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1282746619 12q23.3 12 104251599C> G null S C 55 55 missense 0.326 benign 0.1 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200693410 12q23.3 12 104251602G> C null R T 56 56 7.99E-4 missense 0.15 benign 0.05 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1203060960 12q23.3 12 104251604G> C null A P 57 57 missense 0.015 benign 0.25 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1565862673 12q23.3 12 104251605C> T null A V 57 57 missense 0.075 benign 0.27 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1187652080 12q23.3 12 104251613C> G null Q E 60 60 missense 0.001 benign 0.42 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs772214340 12q23.3 12 104251614A> G null Q R 60 60 missense 0.003 benign 0.47 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs780042655 12q23.3 12 104251616G> A null A T 61 61 missense 0.003 benign 0.55 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1308011313 12q23.3 12 104251620A> G null Y C 62 62 missense 0.011 benign 0.09 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1565862689 12q23.3 12 104251622A> G null I V 63 63 missense 0.011 benign 0.13 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs768936615 12q23.3 12 104251628G> T null G C 65 65 missense 0.247 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs768936615 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104251628G> A null G S 65 65 missense 0.0 benign 1.0 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1565862725 12q23.3 12 104251637G> A null V M 68 68 missense 0.987 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs776824414 12q23.3 12 104251646T> C null F L 71 71 missense 0.009 benign 0.04 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs772519302 12q23.3 12 104251650G> A null S N 72 72 missense 0.866 possibly damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1356178515 12q23.3 12 104251656C> T null S F 74 74 missense 0.66 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1442727611 12q23.3 12 104251659C> T null T I 75 75 missense 0.107 benign 0.31 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs973479047 12q23.3 12 104251665C> G null T R 77 77 missense 0.013 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,NCI-TCGA,TOPMed,gnomAD rs769989720 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:375 12q23.3 12 104251667C> T null R C 78 78 missense 0.533 possibly damaging 0.15 tolerated 1 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs369021781 12q23.3 12 104251668G> A null R H 78 78 missense 0.003 benign 0.58 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs763321370 12q23.3 12 104251670T> C null C R 79 79 missense 0.788 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1338213910 12q23.3 12 104251672T> G null C W 79 79 missense 0.911 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs766888290 12q23.3 12 104251671G> A null C Y 79 79 missense 0.657 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1193538978 12q23.3 12 104251673A> G null T A 80 80 missense 0.0 benign 0.87 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1275779287 12q23.3 12 104251674C> G null T S 80 80 missense 0.005 benign 0.59 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs867911520 12q23.3 12 104258040C> A null L M 89 89 missense 0.031 benign 0.14 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs770219436 12q23.3 12 104258044G> T null C F 90 90 missense 0.003 benign 0.12 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1565865896 12q23.3 12 104258052T> G null Y D 93 93 missense 0.882 possibly damaging 0.15 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs749635390 12q23.3 12 104258062T> C null L P 96 96 missense 0.757 possibly damaging 0.07 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1335520108 12q23.3 12 104258071A> G null D G 99 99 missense 0.705 possibly damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs903654989 12q23.3 12 104258074A> C null Q P 100 100 missense 0.251 benign 0.11 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1172931909 12q23.3 12 104258076A> G null T A 101 101 missense 0.001 benign 0.35 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1383876777 12q23.3 12 104258077C> T null T I 101 101 missense 0.003 benign 0.66 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs780507612 12q23.3 12 104258079G> A null E K 102 102 missense 0.302 benign 0.17 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200037001 12q23.3 12 104288936G> T null G C 104 104 2.0E-4 missense 0.118 benign 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs755285720 12q23.3 12 104288937G> A null G D 104 104 missense 0.474 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200037001 12q23.3 12 104288936G> A null G S 104 104 2.0E-4 missense 0.035 benign 0.08 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs768084670 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104288942G> T null A S 106 106 missense 0.007 benign 1.0 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs768084670 12q23.3 12 104288942G> A null A T 106 106 missense 0.012 benign 0.44 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs753160871 12q23.3 12 104288943C> T null A V 106 106 missense 0.029 benign 0.21 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs755642351 12q23.3 12 104288946T> G null L R 107 107 missense 0.812 possibly damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1360173965 12q23.3 12 104288945C> G null L V 107 107 missense 0.014 benign 0.94 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1414539043 12q23.3 12 104288948G> A null E K 108 108 missense 0.117 benign 0.07 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1168492778 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104288952G> A null G E 109 109 missense 0.0 benign 1.0 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs777313209 12q23.3 12 104288951G> A null G R 109 109 missense 0.001 benign 0.12 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1168492778 12q23.3 12 104288952G> T null G V 109 109 missense 0.047 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1410707594 12q23.3 12 104288958T> C null L P 111 111 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1372616821 12q23.3 12 104288957C> G null L V 111 111 missense 0.535 possibly damaging 0.03 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs756997829 12q23.3 12 104288967T> A null L * 114 114 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1450733646 cosmic curated [Cosmic]: prostate pubmed:22610119,cosmic_study:392 12q23.3 12 104288970C> T null A V 115 115 missense 0.003 benign 0.07 tolerated 1 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1468033796 12q23.3 12 104288973C> A null A E 116 116 missense 0.085 benign 0.27 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,NCI-TCGA,TOPMed,gnomAD rs778413832 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104288972G> A null A T 116 116 missense 0.003 benign 0.16 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs925960555 12q23.3 12 104288975G> T null E * 117 117 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1212274281 12q23.3 12 104288982A> G null D G 119 119 missense 0.001 benign 0.03 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs780174812 12q23.3 12 104288984C> G null L V 120 120 missense 0.001 benign 1.0 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34259558 12q23.3 12 104288987C> T null P S 121 121 3.99E-4 missense 0.941 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1053379083 12q23.3 12 104288997T> C null F S 124 124 missense 0.167 benign 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,NCI-TCGA,TOPMed,gnomAD rs756140350 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104289007G> C null Q H 127 127 missense 0.413 benign 0.04 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,NCI-TCGA,gnomAD rs773469710 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 12q23.3 12 104289013G> C null K N 129 129 missense 0.001 benign 0.1 tolerated 1 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1256542836 12q23.3 12 104289016A> G null I M 130 130 missense 0.167 benign 0.16 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,TOPMed,gnomAD rs541123877 12q23.3 12 104289015T> C null I T 130 130 2.0E-4 missense 0.038 benign 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1186713810 12q23.3 12 104289020G> A null G S 132 132 missense 0.446 possibly damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs771243619 12q23.3 12 104289025T> A null H Q 133 133 missense 0.263 benign 0.05 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs774379762 12q23.3 12 104289026G> A null G S 134 134 missense 0.006 benign 0.08 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs778822919 12q23.3 12 104289029C> T null P S 135 135 missense 0.003 benign 0.57 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs759951170 12q23.3 12 104289032A> G null T A 136 136 missense 0.034 benign 0.07 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1373949700 12q23.3 12 104289033C> G null T S 136 136 missense 0.049 benign 0.04 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs762543774 12q23.3 12 104311291C> T null A V 139 139 missense 0.098 benign 0.07 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1306122055 12q23.3 12 104311294A> G null Y C 140 140 missense 0.818 possibly damaging 0.03 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368264904 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104311306G> T null R I 144 144 missense 0.007 benign 0.43 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs368264904 12q23.3 12 104311306G> C null R T 144 144 missense 0.001 benign 0.74 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1344963853 12q23.3 12 104311309T> A null L H 145 145 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1201180712 12q23.3 12 104311316G> T null K N 147 147 missense 0.005 benign 0.11 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1244458586 12q23.3 12 104311318T> G null L R 148 148 missense 0.673 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP rs370792362 12q23.3 12 104311317C> G null L V 148 148 missense 0.049 benign 0.07 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1420256570 12q23.3 12 104311321T> C null L P 149 149 missense 0.099 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1376978102 12q23.3 12 104311323A> G null K E 150 150 missense 0.0 benign 0.56 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1174096581 12q23.3 12 104311327T> G null M R 151 151 missense 0.196 benign 0.52 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs921358598 12q23.3 12 104311329A> G null N D 152 152 missense 0.019 benign 0.37 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs59826073 12q23.3 12 104311331C> A null N K 152 152 missense 0.036 benign 0.43 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1259306332 12q23.3 12 104311330A> G null N S 152 152 missense 0.036 benign 0.42 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373897464 12q23.3 12 104311332G> A null G S 153 153 2.0E-4 missense 0.036 benign 0.36 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1193238149 12q23.3 12 104311333G> T null G V 153 153 missense 0.36 benign 0.06 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs767393020 12q23.3 12 104311336C> T null P L 154 154 missense 0.0 benign 0.31 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs752399449 12q23.3 12 104311340A> C null E D 155 155 missense 0.005 benign 0.24 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs984087229 12q23.3 12 104311343T> G null D E 156 156 missense 0.0 benign 0.24 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs760668225 12q23.3 12 104311342A> G null D G 156 156 missense 0.003 benign 0.06 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1288494641 12q23.3 12 104311352G> T null K N 159 159 missense 0.056 benign 0.36 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144186955 12q23.3 12 104311351A> C null K T 159 159 5.99E-4 missense 0.005 benign 0.43 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs371761559 12q23.3 12 104311354C> G null S C 160 160 missense 0.336 benign 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,NCI-TCGA,TOPMed,gnomAD rs780170129 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 12q23.3 12 104311357A> G null Y C 161 161 missense 0.993 probably damaging 0.0 deleterious 1 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs781652017 12q23.3 12 104311372T> C null I T 166 166 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs755134146 12q23.3 12 104311371A> G null I V 166 166 missense 0.146 benign 0.48 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1217672420 12q23.3 12 104311374A> G null I V 167 167 missense 0.0 benign 1.0 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs367795908 12q23.3 12 104311378T> C null I T 168 168 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs778369836 12q23.3 12 104311384G> A null G D 170 170 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs748815422 12q23.3 12 104311395G> T null G C 174 174 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs770512643 12q23.3 12 104311401G> A null A T 176 176 missense 0.942 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1401497333 12q23.3 12 104311404G> C null A P 177 177 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs751564436 12q23.3 12 104313248G> A null A T 181 181 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs939732681 12q23.3 12 104313258A> G null Y C 184 184 missense 0.908 possibly damaging 0.04 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1405892530 12q23.3 12 104313264A> G null K R 186 186 missense 0.306 benign 0.21 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs972420538 12q23.3 12 104313267A> G null K R 187 187 missense 0.102 benign 0.11 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs972420538 12q23.3 12 104313267A> C null K T 187 187 missense 0.571 possibly damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,dbSNP,gnomAD rs201402862 12q23.3 12 104313269G> A null V M 188 188 missense 0.974 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,gnomAD rs539790683 12q23.3 12 104313274G> A null M I 189 189 2.0E-4 missense 0.078 benign 0.12 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,gnomAD rs539790683 12q23.3 12 104313274G> T null M I 189 189 2.0E-4 missense 0.078 benign 0.12 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs757803357 12q23.3 12 104313278C> G null L V 191 191 missense 0.882 possibly damaging 0.07 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1366677033 12q23.3 12 104313285T> A null F Y 193 193 missense 0.094 benign 0.6 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs374176114 12q23.3 12 104313291C> T null T I 195 195 missense 0.046 benign 0.15 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs771768747 12q23.3 12 104313293C> G null P A 196 196 missense 0.326 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376722303 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104313300C> G null P R 198 198 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs866003550 12q23.3 12 104313299C> A null P T 198 198 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1243866805 12q23.3 12 104313302C> G null L V 199 199 missense 0.005 benign 0.55 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1292246536 12q23.3 12 104313306G> C null G A 200 200 missense 0.347 benign 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1437092937 12q23.3 12 104313311A> G null R G 202 202 missense 0.089 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1185181726 12q23.3 12 104315777G> A null G D 204 204 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs757806081 12q23.3 12 104315779C> G null L V 205 205 missense 0.88 possibly damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,gnomAD rs370602169 12q23.3 12 104315782G> T null G * 206 206 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,NCI-TCGA,gnomAD rs370602169 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104315782G> A null G R 206 206 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs768267361 12q23.3 12 104315791T> C null C R 209 209 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1270347246 12q23.3 12 104315792G> A null C Y 209 209 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs781034697 12q23.3 12 104315800G> A null V M 212 212 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs772556336 12q23.3 12 104315803G> A null G S 213 213 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs769786426 12q23.3 12 104315807G> A null C Y 214 214 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1013561365 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104315810T> C null I T 215 215 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs772958586 12q23.3 12 104315809A> G null I V 215 215 missense 0.967 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1166778729 12q23.3 12 104315822T> C null L P 219 219 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1205872643 12q23.3 12 104315826G> C null M I 220 220 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1205872643 12q23.3 12 104315826G> T null M I 220 220 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs759696226 12q23.3 12 104315824A> T null M L 220 220 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1446669007 12q23.3 12 104315834C> T null A V 223 223 missense 0.91 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs775677523 12q23.3 12 104315837C> T null A V 224 224 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1370522201 12q23.3 12 104315844A> C null L F 226 226 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs761041431 12q23.3 12 104315846G> C null G A 227 227 missense 0.979 probably damaging 0.04 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs764395444 12q23.3 12 104315848C> A null Q K 228 228 missense 0.091 benign 0.1 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs754265222 12q23.3 12 104315849A> C null Q P 228 228 missense 0.976 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs762016002 12q23.3 12 104315851G> A null A T 229 229 missense 0.863 possibly damaging 0.05 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368438379 12q23.3 12 104315862C> G null D E 232 232 2.0E-4 missense 0.516 possibly damaging 0.06 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs779580588 12q23.3 12 104315864C> T null S F 233 233 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs758915877 12q23.3 12 104315863T> C null S P 233 233 missense 0.947 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs751064845 12q23.3 12 104315866C> T null R * 234 234 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1345555948 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:452 12q23.3 12 104315867G> A null R Q 234 234 missense 0.054 benign 0.15 tolerated 1 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1565897978 12q23.3 12 104315879G> A null W * 238 238 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1273300151 12q23.3 12 104315882A> C null K T 239 239 missense 0.005 benign 0.06 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1565898014 12q23.3 12 104315888A> G null E G 241 241 missense 0.006 benign 0.19 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs370451389 cosmic curated [Cosmic]: ovary cosmic_study:585 12q23.3 12 104315887G> A null E K 241 241 missense 0.015 benign 0.36 tolerated 1 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1354048933 12q23.3 12 104315893A> G null T A 243 243 missense 0.0 benign 0.64 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1294881107 12q23.3 12 104315896G> A null V I 244 244 missense 0.119 benign 0.33 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs939146908 12q23.3 12 104318923T> A null D E 247 247 missense 0.021 benign 0.03 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1238364284 12q23.3 12 104318922A> G null D G 247 247 missense 0.081 benign 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1565899804 12q23.3 12 104318921G> A null D N 247 247 missense 0.0 benign 1.0 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs763437541 12q23.3 12 104318927G> C null D H 249 249 missense 0.005 benign 0.05 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs766860634 12q23.3 12 104318933A> C null M L 251 251 missense 0.098 benign 0.48 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1476581143 12q23.3 12 104318942G> A null A T 254 254 missense 0.672 possibly damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs751084996 12q23.3 12 104318943C> T null A V 254 254 missense 0.733 possibly damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC rs752246417 12q23.3 12 104318950G> T null Q H 256 256 missense 0.975 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,TOPMed,gnomAD rs553294226 12q23.3 12 104318949A> G null Q R 256 256 2.0E-4 missense 0.968 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1281485886 12q23.3 12 104318954C> G null H D 258 258 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs777492995 12q23.3 12 104318957A> C null I L 259 259 missense 0.901 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs777492995 12q23.3 12 104318957A> G null I V 259 259 missense 0.395 benign 0.27 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1452201104 12q23.3 12 104318974G> A null W * 264 264 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1377856903 12q23.3 12 104318972T> G null W G 264 264 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1377856903 12q23.3 12 104318972T> C null W R 264 264 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs199677400 12q23.3 12 104318975G> A null G S 265 265 missense 0.557 possibly damaging 0.1 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1201990704 12q23.3 12 104318976G> T null G V 265 265 missense 0.963 probably damaging 0.13 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs778924100 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 12q23.3 12 104318981C> T null R * 267 267 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs778924100 12q23.3 12 104318981C> G null R G 267 267 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs189358801 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 12q23.3 12 104318982G> A null R Q 267 267 2.0E-4 missense 0.999 probably damaging 0.02 deleterious 1 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs768805307 12q23.3 12 104318984G> T null V L 268 268 missense 0.5 possibly damaging 0.2 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs200501549 12q23.3 12 104318994G> A null R Q 271 271 missense 0.333 benign 0.14 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs748358920 12q23.3 12 104318993C> T null R W 271 271 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs773508677 12q23.3 12 104318996G> T null E * 272 272 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs773508677 12q23.3 12 104318996G> C null E Q 272 272 missense 0.269 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,TOPMed,gnomAD rs539105473 12q23.3 12 104319008G> A null V I 276 276 2.0E-4 missense 0.0 benign 0.05 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,NCI-TCGA,TOPMed,gnomAD rs767067096 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104319012A> G null Y C 277 277 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs752224301 12q23.3 12 104319024A> T null Y F 281 281 missense 0.031 benign 0.15 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs755776124 12q23.3 12 104319049G> T null R S 289 289 missense 0.056 benign 0.14 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs763741734 12q23.3 12 104319054A> C null K T 291 291 missense 0.642 possibly damaging 0.11 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs758378865 12q23.3 12 104319470G> A null A T 292 292 missense 0.028 benign 0.16 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1397030164 12q23.3 12 104319477A> G null N S 294 294 missense 0.145 benign 0.12 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1392888372 12q23.3 12 104319484A> T null K N 296 296 missense 0.066 benign 0.31 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes rs551790587 12q23.3 12 104319485G> A null G S 297 297 2.0E-4 missense 0.929 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1261112283 12q23.3 12 104319499T> G null I M 301 301 missense 0.179 benign 0.18 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1288586459 12q23.3 12 104319498T> A null I N 301 301 missense 0.13 benign 0.28 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1288586459 12q23.3 12 104319498T> C null I T 301 301 missense 0.003 benign 0.49 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs879068510 12q23.3 12 104319503T> C null S P 303 303 missense 0.795 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs748247557 12q23.3 12 104319513G> T null R I 306 306 missense 0.353 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1127953 12q23.3 12 104319514A> T null R S 306 306 missense 0.258 benign 0.14 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs769923658 12q23.3 12 104319516T> C null F S 307 307 missense 0.963 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1334228336 12q23.3 12 104319521A> G null I V 309 309 missense 0.1 benign 0.12 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs749687527 12q23.3 12 104319525C> G null A G 310 310 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs771238802 12q23.3 12 104319527A> G null T A 311 311 missense 0.683 possibly damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs774680042 12q23.3 12 104319542C> T null R C 316 316 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377062126 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:583 12q23.3 12 104319543G> A null R H 316 316 missense 0.972 probably damaging 0.01 deleterious 1 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs768051791 12q23.3 12 104319545T> C null Y H 317 317 missense 0.582 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs760161625 12q23.3 12 104319564A> T null D V 323 323 missense 0.86 possibly damaging 0.45 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs763682075 12q23.3 12 104319567A> G null K R 324 324 missense 0.03 benign 0.3 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs753479266 12q23.3 12 104319573A> G null Y C 326 326 missense 0.21 benign 0.06 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs369698058 12q23.3 12 104319580C> G null I M 328 328 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs960636786 12q23.3 12 104319578A> G null I V 328 328 missense 0.773 possibly damaging 0.05 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs371619524 12q23.3 12 104319583C> G null S R 329 329 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1421865028 12q23.3 12 104319585G> A null S N 330 330 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs376182332 12q23.3 12 104321091T> A null S R 330 330 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1484756580 12q23.3 12 104321096A> T null D V 332 332 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs751467869 12q23.3 12 104321098C> T null L F 333 333 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs751467869 12q23.3 12 104321098C> G null L V 333 333 missense 0.516 possibly damaging 0.03 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1256239019 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104321105C> T null S F 335 335 missense 0.761 possibly damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1322643228 12q23.3 12 104321110C> T null P S 337 337 missense 0.053 benign 0.07 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1179476565 12q23.3 12 104321115C> G null Y * 338 338 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs754851493 12q23.3 12 104321120C> T null P L 340 340 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs988157885 12q23.3 12 104321122G> A null G S 341 341 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1184000134 12q23.3 12 104321128A> G null T A 343 343 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs368876895 12q23.3 12 104321129C> T null T I 343 343 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs757479401 12q23.3 12 104321135T> C null V A 345 345 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs753914959 12q23.3 12 104321134G> A null V I 345 345 missense 0.532 possibly damaging 0.09 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs753914959 12q23.3 12 104321134G> C null V L 345 345 missense 0.053 benign 0.03 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1317869101 12q23.3 12 104321147C> G null S C 349 349 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1401840467 12q23.3 12 104321146T> C null S P 349 349 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1465743963 12q23.3 12 104321150A> G null Y C 350 350 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs911137254 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104321155G> A null A T 352 352 missense 0.931 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1449895009 12q23.3 12 104321163G> T null E D 354 354 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs375808643 12q23.3 12 104321167G> C null A P 356 356 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375808643 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104321167G> A null A T 356 356 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1212730099 12q23.3 12 104321171G> A null G E 357 357 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1373551632 12q23.3 12 104321176C> G null L V 359 359 missense 0.88 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs747589722 12q23.3 12 104321189G> T null G V 363 363 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201777096 12q23.3 12 104321196C> A null D E 365 365 0.002596 missense 0.396 benign 0.1 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl,dbSNP rs1127954 pubmed:14980707,pubmed:7589432 12q23.3 12 104321195A> G null D G 365 365 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1262709184 12q23.3 12 104321194G> A null D N 365 365 missense 0.361 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,TOPMed,gnomAD rs568459445 12q23.3 12 104321197G> A null V I 366 366 2.0E-4 missense 0.909 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1475331465 12q23.3 12 104321206A> T null M L 369 369 missense 0.509 possibly damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs772961907 12q23.3 12 104321207T> C null M T 369 369 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1475331465 12q23.3 12 104321206A> G null M V 369 369 missense 0.608 possibly damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs762681613 12q23.3 12 104321210T> A null V D 370 370 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs919668790 12q23.3 12 104321219T> C null I T 373 373 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs759589565 12q23.3 12 104321227A> G null R G 376 376 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs58249253 12q23.3 12 104321228G> A null R K 376 376 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs767433265 12q23.3 12 104321230G> T null G * 377 377 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs994341132 12q23.3 12 104321231G> A null G E 377 377 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs753915216 12q23.3 12 104321239C> T null Q * 380 380 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs753915216 12q23.3 12 104321239C> G null Q E 380 380 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1344370498 12q23.3 12 104321247G> A null M I 382 382 missense 0.017 benign 0.11 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs757283703 12q23.3 12 104321245A> C null M L 382 382 missense 0.149 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs757283703 12q23.3 12 104321245A> T null M L 382 382 missense 0.149 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs757283703 12q23.3 12 104321245A> G null M V 382 382 missense 0.223 benign 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1428439615 12q23.3 12 104321249C> G null A G 383 383 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,gnomAD rs373534042 12q23.3 12 104321253C> G null N K 384 384 missense 0.05 benign 0.15 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs747320918 12q23.3 12 104321264A> G null E G 388 388 missense 0.011 benign 0.06 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1261133705 12q23.3 12 104321269A> G null M V 390 390 missense 0.951 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs755522699 12q23.3 12 104321279A> G null H R 393 393 missense 0.539 possibly damaging 0.14 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1048103951 12q23.3 12 104321282G> A null G D 394 394 missense 0.984 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1282747116 12q23.3 12 104321288A> G null K R 396 396 missense 0.012 benign 0.23 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs376165844 12q23.3 12 104321293A> G null I V 398 398 missense 0.015 benign 0.17 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,gnomAD rs547545865 12q23.3 12 104321304C> G null F L 401 401 2.0E-4 missense 0.258 benign 0.34 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199586854 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104321305G> A null V I 402 402 missense 0.077 benign 0.3 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs765339832 12q23.3 12 104325347T> C null I T 409 409 missense 0.113 benign 0.12 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs377194082 12q23.3 12 104325352G> A null A T 411 411 missense 0.018 benign 0.45 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs758714889 12q23.3 12 104325353C> T null A V 411 411 missense 0.088 benign 0.22 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1392846163 12q23.3 12 104325356G> A null G E 412 412 missense 0.978 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs751967108 12q23.3 12 104325362C> G null P R 414 414 missense 0.984 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs755345269 12q23.3 12 104325367C> T null R * 416 416 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs370065005 12q23.3 12 104325368G> A null R Q 416 416 missense 0.01 benign 0.23 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,TOPMed,gnomAD rs537451137 12q23.3 12 104325374G> A null R K 418 418 2.0E-4 missense 0.001 benign 1.0 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs761348494 12q23.3 12 104325375A> C null R S 418 418 missense 0.267 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs768590188 12q23.3 12 104325376G> C null V L 419 419 missense 0.139 benign 0.08 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1264159001 12q23.3 12 104325379G> A null V I 420 420 missense 0.0 benign 0.35 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs187437891 12q23.3 12 104325385C> G null Q E 422 422 2.0E-4 missense 0.026 benign 0.24 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs921870627 12q23.3 12 104325392C> T null T I 424 424 missense 0.083 benign 0.03 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,gnomAD rs367824614 12q23.3 12 104325395A> C null N T 425 425 missense 0.0 benign 0.24 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs770617970 12q23.3 12 104325410T> C null I T 430 430 missense 0.02 benign 0.33 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs774543561 12q23.3 12 104325416G> T null G V 432 432 missense 0.113 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs773829979 12q23.3 12 104325422A> G null Y C 434 434 missense 0.094 benign 0.04 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144671274 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104325428C> T null T M 436 436 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs756686225 12q23.3 12 104326352G> A null M I 438 438 missense 0.0 benign 0.07 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1421436430 12q23.3 12 104326350A> C null M L 438 438 missense 0.0 benign 1.0 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1465738477 12q23.3 12 104326362G> C null G R 442 442 missense 0.573 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs778459297 12q23.3 12 104326371G> A null A T 445 445 missense 0.44 benign 0.05 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1404788415 12q23.3 12 104326372C> T null A V 445 445 missense 0.6 possibly damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs369434394 12q23.3 12 104326378C> T null T I 447 447 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs369434394 12q23.3 12 104326378C> G null T R 447 447 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1278293484 12q23.3 12 104326383A> G null K E 449 449 missense 0.003 benign 0.34 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs746739868 12q23.3 12 104326386A> G null I V 450 450 missense 0.103 benign 0.09 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1302367630 12q23.3 12 104326390G> A null G D 451 451 missense 0.408 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs768595021 12q23.3 12 104326395G> T null E * 453 453 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs768595021 12q23.3 12 104326395G> A null E K 453 453 missense 0.271 benign 0.05 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs776383661 12q23.3 12 104326398A> T null T S 454 454 missense 0.001 benign 0.12 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs774464712 12q23.3 12 104326402T> C null V A 455 455 missense 0.184 benign 0.82 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201533043 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 12q23.3 12 104326401G> A null V I 455 455 missense 0.084 benign 0.8 tolerated 1 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1489235810 12q23.3 12 104326404G> C null G R 456 456 missense 0.306 benign 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs373356015 12q23.3 12 104326407G> T null V L 457 457 missense 0.676 possibly damaging 0.06 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs373356015 12q23.3 12 104326407G> A null V M 457 457 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs753112371 12q23.3 12 104326411A> G null K R 458 458 missense 0.019 benign 0.07 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs956191162 12q23.3 12 104326414T> C null I T 459 459 missense 0.022 benign 0.42 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1466839944 12q23.3 12 104326420A> G null E G 461 461 missense 0.012 benign 0.09 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs761059705 12q23.3 12 104326419G> A null E K 461 461 missense 0.012 benign 0.29 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs942572248 12q23.3 12 104327520G> A null G E 464 464 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs896788733 12q23.3 12 104327522A> G null K E 465 465 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1455889666 12q23.3 12 104327525A> G null I V 466 466 missense 0.027 benign 0.27 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs200564560 12q23.3 12 104327534A> G null T A 469 469 missense 0.014 benign 0.22 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs200564560 12q23.3 12 104327534A> T null T S 469 469 missense 0.001 benign 0.3 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs772432668 12q23.3 12 104327538A> G null D G 470 470 missense 0.748 possibly damaging 0.07 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1378811279 12q23.3 12 104327540G> A null E K 471 471 missense 0.031 benign 0.26 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1240657169 cosmic curated [Cosmic]: skin pubmed:22622578,cosmic_study:388 12q23.3 12 104327543G> A null E K 472 472 missense 0.994 probably damaging 0.0 deleterious 1 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1311873165 12q23.3 12 104327547A> G null Q R 473 473 missense 0.068 benign 0.12 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs376847283 12q23.3 12 104327553A> G null N S 475 475 missense 0.046 benign 0.47 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs777042997 12q23.3 12 104327556T> C null V A 476 476 missense 0.973 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs762295999 12q23.3 12 104327559C> G null P R 477 477 missense 0.892 possibly damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1451315965 12q23.3 12 104327558C> T null P S 477 477 missense 0.131 benign 0.07 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1431660702 12q23.3 12 104327566C> G null I M 479 479 missense 0.963 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1236621543 12q23.3 12 104327565T> C null I T 479 479 missense 0.957 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs749950620 12q23.3 12 104327574T> C null I T 482 482 missense 0.958 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,TOPMed,gnomAD rs574454350 12q23.3 12 104327573A> G null I V 482 482 9.98E-4 missense 0.055 benign 0.4 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs751185225 12q23.3 12 104327579G> A null D N 484 484 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs766050563 12q23.3 12 104327584A> G null I M 485 485 missense 0.887 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs754635705 12q23.3 12 104327589A> C null E A 487 487 missense 0.587 possibly damaging 0.06 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ESP,ExAC,gnomAD rs375374294 12q23.3 12 104327588G> A null E K 487 487 2.0E-4 missense 0.048 benign 0.05 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs377363341 12q23.3 12 104327596G> C null K N 489 489 missense 0.958 probably damaging 0.04 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1253556679 12q23.3 12 104327598T> C null V A 490 490 missense 0.051 benign 0.42 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs756956430 12q23.3 12 104327597G> T null V L 490 490 missense 0.0 benign 0.9 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs747967804 12q23.3 12 104327600G> A null E K 491 491 missense 0.957 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs756007506 12q23.3 12 104327604T> C null L P 492 492 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs777792474 12q23.3 12 104327607C> T null T I 493 493 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs777792474 12q23.3 12 104327607C> A null T N 493 493 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1183023432 12q23.3 12 104327609C> T null P S 494 494 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs370350536 12q23.3 12 104327618A> G null I V 497 497 missense 0.404 benign 0.08 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1218126935 12q23.3 12 104327621C> T null Q * 498 498 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,gnomAD rs375933357 12q23.3 12 104327632A> C null R S 501 501 missense 0.613 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs747600243 12q23.3 12 104327635G> C null L F 502 502 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1237257253 12q23.3 12 104327636C> A null L M 503 503 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,gnomAD rs576410327 12q23.3 12 104327639G> T null A S 504 504 0.001198 missense 0.369 benign 0.08 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs776866265 12q23.3 12 104327643A> G null Q R 505 505 missense 0.005 benign 1.0 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs762180731 12q23.3 12 104327657G> A null G S 510 510 missense 0.068 benign 0.04 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs765685462 12q23.3 12 104327663A> G null T A 512 512 missense 0.0 benign 0.23 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs374989029 12q23.3 12 104331534T> G null C G 515 515 missense 0.957 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs374989029 12q23.3 12 104331534T> C null C R 515 515 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs763507590 12q23.3 12 104331547A> G null N S 519 519 missense 0.326 benign 0.11 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs771422423 12q23.3 12 104331555A> G null T A 522 522 missense 0.515 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs773853213 12q23.3 12 104331570C> T null P S 527 527 missense 0.709 possibly damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1478808352 12q23.3 12 104331577A> G null E G 529 529 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1414437274 12q23.3 12 104331580A> G null Y C 530 530 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs759025387 12q23.3 12 104331588T> C null C R 533 533 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1353621656 12q23.3 12 104331591G> C null G R 534 534 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs752350921 12q23.3 12 104331613T> G null V G 541 541 missense 0.456 possibly damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs1417682386 12q23.3 12 104331612G> A null V M 541 541 missense 0.037 benign 0.06 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs367604146 12q23.3 12 104331619A> G null K R 543 543 missense 0.031 benign 0.49 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1396420040 12q23.3 12 104331623T> A null F L 544 544 missense 0.336 benign 0.04 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs764041824 12q23.3 12 104331622T> C null F S 544 544 missense 0.835 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1438872679 12q23.3 12 104331625G> A null G E 545 545 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs753683360 12q23.3 12 104331624G> C null G R 545 545 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs753683360 12q23.3 12 104331624G> A null G R 545 545 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs778938164 12q23.3 12 104331637T> C null I T 549 549 missense 0.954 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1043476501 12q23.3 12 104331636A> G null I V 549 549 missense 0.041 benign 0.33 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs751615938 12q23.3 12 104331641G> T null E D 550 550 missense 0.975 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs758996793 12q23.3 12 104334237G> T null V F 551 551 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs758996793 12q23.3 12 104334237G> A null V I 551 551 missense 0.378 benign 0.14 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1375098877 12q23.3 12 104334241A> G null Y C 552 552 missense 0.82 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1456183288 12q23.3 12 104334246A> G null S G 554 554 missense 0.944 probably damaging 0.08 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1200228142 12q23.3 12 104334247G> A null S N 554 554 missense 0.899 possibly damaging 0.19 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1382606875 12q23.3 12 104334250du p null Y * 555 555 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,NCI-TCGA,gnomAD rs760474615 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q23.3 12 104334271C> T null T M 562 562 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1160785069 12q23.3 12 104334274T> G null I S 563 563 missense 0.792 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs763775599 12q23.3 12 104334277C> T null P L 564 564 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs761654538 12q23.3 12 104334291A> G null N D 569 569 missense 0.572 possibly damaging 0.16 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1169922286 12q23.3 12 104334293C> A null N K 569 569 missense 0.868 possibly damaging 0.06 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs765296774 12q23.3 12 104334298G> T null C F 571 571 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs765296774 12q23.3 12 104334298G> A null C Y 571 571 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1382811172 12q23.3 12 104334301A> T null Y F 572 572 missense 1.0 probably damaging 0.04 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed,gnomAD rs976843517 12q23.3 12 104334303G> A null A T 573 573 missense 0.947 probably damaging 0.04 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1414807427 12q23.3 12 104334307A> C null K T 574 574 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs750455176 12q23.3 12 104334316G> A null C Y 577 577 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs760735240 12q23.3 12 104334318A> G null N D 578 578 missense 0.066 benign 0.47 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs375723971 12q23.3 12 104334321A> G null T A 579 579 missense 0.003 benign 0.11 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1220071987 12q23.3 12 104334327G> T null D Y 581 581 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs781389811 12q23.3 12 104334331A> G null N S 582 582 missense 0.003 benign 0.19 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369684801 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104339142C> T null R C 584 584 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs373593847 12q23.3 12 104339143G> A null R H 584 584 missense 0.157 benign 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1197114266 12q23.3 12 104339148G> C null V L 586 586 missense 0.216 benign 0.93 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs542935965 12q23.3 12 104339152G> C null G A 587 587 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,NCI-TCGA,TOPMed,gnomAD rs776384523 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104339160G> A null V I 590 590 missense 0.043 benign 0.66 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs776384523 12q23.3 12 104339160G> T null V L 590 590 missense 0.104 benign 0.16 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic 1000Genomes,ExAC,NCI-TCGA,gnomAD rs557961762 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104339166G> A null G S 592 592 2.0E-4 missense 0.953 probably damaging 0.05 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1254242769 12q23.3 12 104339175G> A null A T 595 595 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs370121871 12q23.3 12 104339179G> A null G E 596 596 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs373217616 12q23.3 12 104339183A> C null E D 597 597 missense 0.381 benign 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1281647298 12q23.3 12 104339187A> G null T A 599 599 missense 0.909 probably damaging 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic Ensembl rs1319245400 12q23.3 12 104339191A> T null Q L 600 600 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1225092786 12q23.3 12 104339202G> A null A T 604 604 missense 0.672 possibly damaging 0.08 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs756135502 12q23.3 12 104339206C> T null A V 605 605 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1239191078 12q23.3 12 104339208C> A null L I 606 606 missense 0.04 benign 0.52 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,ExAC,TOPMed,gnomAD rs376301938 12q23.3 12 104339211A> T null K * 607 607 stop gained 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs757460912 12q23.3 12 104339213A> T null K N 607 607 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs779404990 12q23.3 12 104339218G> A null G E 609 609 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs758961544 12q23.3 12 104339220C> G null L V 610 610 missense 0.058 benign 0.15 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1330252182 12q23.3 12 104339230A> G null K R 613 613 missense 0.0 benign 0.44 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ESP,TOPMed,gnomAD rs371451228 12q23.3 12 104339242G> A null S N 617 617 missense 0.001 benign 0.65 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs746550669 12q23.3 12 104339250G> A null G R 620 620 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1378933290 12q23.3 12 104339262G> T null V F 624 624 missense 0.89 possibly damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs760629905 cosmic curated [Cosmic]: prostate cosmic_study:435 12q23.3 12 104348353G> C null V L 628 628 missense 0.007 benign 0.29 tolerated 1 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic gnomAD rs1468530419 12q23.3 12 104348375C> T null T I 635 635 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1015208925 12q23.3 12 104348380C> T null R C 637 637 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,TOPMed,gnomAD rs775255749 12q23.3 12 104348381G> A null R H 637 637 missense 0.895 possibly damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs763152962 12q23.3 12 104348386G> A null G R 639 639 missense 0.53 possibly damaging 0.01 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic TOPMed rs1429251360 12q23.3 12 104348395A> G null I V 642 642 missense 0.003 benign 1.0 tolerated 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs759930904 12q23.3 12 104348405C> T null A V 645 645 missense 0.09 benign 0.02 deleterious 0 A0A087WSY9 TXNRD1 Thioredoxin reductase 1, cytoplasmic ExAC,gnomAD rs768166002 12q23.3 12 104348417G> A null G D 648 648 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 NCI-TCGA rs538313788 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 2p11.2 2 90220910G> A null M ? 1 1 - 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs773502877 2p11.2 2 90220913C> A null D E 2 2 missense 0.168 benign 0.06 tolerated - low confidence 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs772626697 2p11.2 2 90220912A> G null D G 2 2 missense 0.11 benign 0.02 deleterious - low confidence 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs778944971 2p11.2 2 90220911G> A null D N 2 2 missense 0.168 benign 0.04 deleterious - low confidence 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs778944971 2p11.2 2 90220911G> T null D Y 2 2 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,NCI-TCGA,gnomAD rs776382493 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90220916G> A null M I 3 3 missense 0.168 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs770710814 2p11.2 2 90220915T> G null M R 3 3 missense 0.235 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs747336719 2p11.2 2 90220914A> G null M V 3 3 missense 0.11 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed,gnomAD rs1206903263 2p11.2 2 90220918G> A null R K 4 4 missense 0.076 benign 0.07 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed,gnomAD rs1206903263 2p11.2 2 90220918G> T null R M 4 4 missense 0.496 possibly damaging 0.1 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs759138406 2p11.2 2 90220919G> T null R S 4 4 missense 0.259 benign 0.05 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1441107455 2p11.2 2 90220920G> A null V I 5 5 missense 0.072 benign 0.06 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs368794379 2p11.2 2 90220926G> T null A S 7 7 missense 0.103 benign 0.18 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs368794379 2p11.2 2 90220926G> A null A T 7 7 missense 0.026 benign 0.58 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs761633162 2p11.2 2 90220932C> A null L I 9 9 missense 0.361 benign 0.04 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1360850829 2p11.2 2 90220939G> A null G E 11 11 missense 0.308 benign 0.07 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs754110439 2p11.2 2 90220938G> C null G R 11 11 missense 0.96 probably damaging 0.08 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed rs1171873008 2p11.2 2 90220942T> C null L P 12 12 missense 0.486 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs755164541 2p11.2 2 90220945T> A null L Q 13 13 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs755164541 2p11.2 2 90220945T> G null L R 13 13 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs752806546 2p11.2 2 90220947C> A null L M 14 14 missense 0.762 possibly damaging 0.06 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1272788484 2p11.2 2 90220950C> T null L F 15 15 missense 0.632 possibly damaging 0.07 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs758838114 2p11.2 2 90220951T> C null L P 15 15 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs556671249 2p11.2 2 90220954G> A null W * 16 16 2.0E-4 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,NCI-TCGA,TOPMed,gnomAD rs747363751 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90220955G> T null W C 16 16 missense 0.168 benign 0.08 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs771373023 2p11.2 2 90220956C> T null L F 17 17 missense 0.07 benign 0.25 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs771373023 2p11.2 2 90220956C> A null L I 17 17 missense 0.048 benign 0.35 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed,gnomAD rs1207432586 2p11.2 2 90220957T> C null L P 17 17 missense 0.927 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1450230314 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90220960C> A null P Q 18 18 missense 0.176 benign 0.08 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1247464254 2p11.2 2 90220959C> A null P T 18 18 missense 0.7 possibly damaging 0.06 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs747596254 2p11.2 2 90221087G> C null G A 19 19 missense 0.246 benign 0.05 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1195589624 2p11.2 2 90220962G> A null G S 19 19 missense 0.361 benign 0.05 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190239413 2p11.2 2 90221090C> T null A V 20 20 5.99E-4 missense 0.015 benign 0.24 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1178492935 2p11.2 2 90221093G> A null R K 21 21 missense 0.042 benign 0.12 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs112835881 2p11.2 2 90221094A> T null R S 21 21 2.0E-4 missense 0.103 benign 0.13 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs112835881 2p11.2 2 90221094A> C null R S 21 21 2.0E-4 missense 0.103 benign 0.13 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs367822287 2p11.2 2 90221096G> T null C F 22 22 missense 0.235 benign 0.08 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1275055168 2p11.2 2 90221095T> C null C R 22 22 missense 0.168 benign 0.06 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs367822287 2p11.2 2 90221096G> C null C S 22 22 missense 0.259 benign 0.06 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs367822287 2p11.2 2 90221096G> A null C Y 22 22 missense 0.235 benign 0.1 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs842156 2p11.2 2 90221099C> A null A D 23 23 0.2015 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed rs1364045212 2p11.2 2 90221098G> A null A T 23 23 missense 0.1 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs842156 2p11.2 2 90221099C> T null A V 23 23 0.2015 missense 0.007 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 Ensembl rs112036184 2p11.2 2 90221103C> G null I M 24 24 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1255388916 2p11.2 2 90221101A> G null I V 24 24 missense 0.214 benign 0.07 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed rs868638148 2p11.2 2 90221105G> A null W * 25 25 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs570885624 2p11.2 2 90221106G> T null W C 25 25 2.0E-4 missense 0.003 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs570885624 2p11.2 2 90221106G> C null W C 25 25 2.0E-4 missense 0.003 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed rs868638148 2p11.2 2 90221105G> T null W L 25 25 missense 0.0 benign 0.14 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs764165312 2p11.2 2 90221109G> T null M I 26 26 missense 0.176 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs763301969 2p11.2 2 90221108T> C null M T 26 26 missense 0.176 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs201899294 2p11.2 2 90221113C> T null Q * 28 28 0.005591 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs374587996 2p11.2 2 90221115G> C null Q H 28 28 missense 0.852 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed rs1377127319 2p11.2 2 90221114A> T null Q L 28 28 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs568562795 2p11.2 2 90221116T> G null S A 29 29 2.0E-4 missense 0.246 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed rs368714460 2p11.2 2 90221117C> T null S F 29 29 missense 0.533 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1301546679 2p11.2 2 90221120C> T null P L 30 30 missense 0.632 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs372672179 2p11.2 2 90221119C> T null P S 30 30 missense 0.749 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs372672179 2p11.2 2 90221119C> A null P T 30 30 missense 0.749 possibly damaging 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1402150531 2p11.2 2 90221123C> A null S Y 31 31 missense 0.414 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs369318996 2p11.2 2 90221126T> G null L * 32 32 3.99E-4 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs553892440 2p11.2 2 90221127A> T null L F 32 32 2.0E-4 missense 0.0 benign 0.15 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs369318996 2p11.2 2 90221126T> C null L S 32 32 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1317218979 2p11.2 2 90221125T> G null L V 32 32 missense 0.003 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs868587569 2p11.2 2 90221128C> T null L F 33 33 missense 0.293 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs868587569 2p11.2 2 90221128C> G null L V 33 33 missense 0.105 benign 0.08 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369629795 2p11.2 2 90221134G> T null A S 35 35 2.0E-4 missense 0.701 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369629795 2p11.2 2 90221134G> A null A T 35 35 2.0E-4 missense 0.455 possibly damaging 0.04 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs757851913 2p11.2 2 90221138C> G null S C 36 36 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,gnomAD rs557748215 2p11.2 2 90221140A> G null T A 37 37 2.0E-4 missense 0.0 benign 0.16 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs746986607 2p11.2 2 90221141C> T null T I 37 37 missense 0.0 benign 0.16 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,gnomAD rs557748215 2p11.2 2 90221140A> C null T P 37 37 2.0E-4 missense 0.0 benign 0.38 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs746986607 2p11.2 2 90221141C> G null T R 37 37 missense 0.0 benign 0.05 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs776545480 2p11.2 2 90221143G> A null G R 38 38 missense 0.705 possibly damaging 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs746370129 2p11.2 2 90221146G> C null D H 39 39 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs746370129 2p11.2 2 90221146G> T null D Y 39 39 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs774667590 2p11.2 2 90221151A> C null R S 40 40 missense 0.102 benign 0.09 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed rs762106358 2p11.2 2 90221153T> C null V A 41 41 missense 0.433 benign 0.07 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed rs762106358 2p11.2 2 90221153T> G null V G 41 41 missense 0.967 probably damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed rs1230504643 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221152G> A null V I 41 41 missense 0.433 benign 0.05 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17699428 2p11.2 2 90221156C> T null T I 42 42 0.007987 missense 0.56 possibly damaging 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1470574353 2p11.2 2 90221155A> C null T P 42 42 missense 0.505 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17699428 2p11.2 2 90221156C> G null T S 42 42 0.007987 missense 0.255 benign 0.16 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs773863550 2p11.2 2 90221158A> T null I F 43 43 missense 0.331 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1289605568 2p11.2 2 90221159T> G null I S 43 43 missense 0.546 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs773863550 2p11.2 2 90221158A> G null I V 43 43 missense 0.246 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1364375338 2p11.2 2 90221161A> G null S G 44 44 missense 0.062 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs17091249 2p11.2 2 90221162G> A null S N 44 44 missense 0.003 benign 0.24 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs17091249 2p11.2 2 90221162G> C null S T 44 44 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs758013329 2p11.2 2 90221166T> A null C * 45 45 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs752394479 2p11.2 2 90221165G> T null C F 45 45 missense 0.632 possibly damaging 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201039210 2p11.2 2 90221168G> T null R L 46 46 3.99E-4 missense 0.048 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201039210 2p11.2 2 90221168G> C null R P 46 46 3.99E-4 missense 0.072 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201039210 2p11.2 2 90221168G> A null R Q 46 46 3.99E-4 missense 0.021 benign 0.44 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs183140988 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221167C> T null R W 46 46 2.0E-4 missense 0.072 benign 0.04 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs779967862 2p11.2 2 90221172G> T null M I 47 47 missense 0.0 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs745700607 2p11.2 2 90221170A> T null M L 47 47 missense 0.0 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs745700607 2p11.2 2 90221170A> G null M V 47 47 missense 0.0 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs542071484 2p11.2 2 90221173A> T null S C 48 48 2.0E-4 missense 0.61 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs772414478 2p11.2 2 90221174G> A null S N 48 48 missense 0.404 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs772414478 2p11.2 2 90221174G> C null S T 48 48 missense 0.541 possibly damaging 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs760601969 2p11.2 2 90221178G> C null Q H 49 49 missense 0.414 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs760601969 2p11.2 2 90221178G> T null Q H 49 49 missense 0.414 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs773443034 2p11.2 2 90221177A> C null Q P 49 49 missense 0.235 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs527859306 2p11.2 2 90221180G> C null G A 50 50 2.0E-4 missense 0.131 benign 0.05 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373338896 2p11.2 2 90221179G> T null G C 50 50 2.0E-4 missense 0.761 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs527859306 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221180G> A null G D 50 50 2.0E-4 missense 0.007 benign 0.57 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373338896 2p11.2 2 90221179G> A null G S 50 50 2.0E-4 missense 0.013 benign 1.0 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs760063488 2p11.2 2 90221182A> T null I F 51 51 missense 0.409 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs753054472 2p11.2 2 90221184T> G null I M 51 51 missense 0.926 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs765628907 2p11.2 2 90221183T> A null I N 51 51 missense 0.533 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs765628907 2p11.2 2 90221183T> G null I S 51 51 missense 0.903 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1345837914 2p11.2 2 90221185A> G null S G 52 52 missense 0.012 benign 0.31 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,gnomAD rs377343591 2p11.2 2 90221186G> A null S N 52 52 missense 0.012 benign 0.28 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs763678623 2p11.2 2 90221187C> G null S R 52 52 missense 0.048 benign 0.08 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs763678623 2p11.2 2 90221187C> A null S R 52 52 missense 0.048 benign 0.08 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,gnomAD rs377343591 2p11.2 2 90221186G> C null S T 52 52 missense 0.03 benign 0.13 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs552867096 2p11.2 2 90221189G> A null S N 53 53 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs750369668 2p11.2 2 90221190T> A null S R 53 53 missense 0.007 benign 0.05 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs552867096 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221189G> C null S T 53 53 3.99E-4 missense 0.003 benign 0.18 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs749038091 2p11.2 2 90221193T> A null Y * 54 54 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs780055740 2p11.2 2 90221192A> T null Y F 54 54 missense 0.02 benign 0.32 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1414096101 2p11.2 2 90221195T> C null L S 55 55 missense 0.823 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs747393646 2p11.2 2 90221197G> A null A T 56 56 missense 0.051 benign 0.2 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs777814096 2p11.2 2 90221198C> T null A V 56 56 missense 0.051 benign 0.22 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs770961325 2p11.2 2 90221202G> A null W * 57 57 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs747132097 2p11.2 2 90221201G> A null W * 57 57 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs770961325 2p11.2 2 90221202G> C null W C 57 57 missense 0.935 probably damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1171702633 2p11.2 2 90221200T> G null W G 57 57 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs747132097 2p11.2 2 90221201G> T null W L 57 57 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1178334305 2p11.2 2 90221205T> G null Y * 58 58 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs746427292 2p11.2 2 90221204A> G null Y C 58 58 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs746427292 2p11.2 2 90221204A> T null Y F 58 58 missense 0.433 benign 0.06 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs776739946 2p11.2 2 90221203T> A null Y N 58 58 missense 0.728 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs746427292 2p11.2 2 90221204A> C null Y S 58 58 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs775845622 2p11.2 2 90221208G> C null Q H 59 59 missense 0.404 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed rs1245273988 2p11.2 2 90221206C> A null Q K 59 59 missense 0.541 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs763758554 2p11.2 2 90221209C> T null Q * 60 60 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs763758554 2p11.2 2 90221209C> A null Q K 60 60 missense 0.246 benign 0.04 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs773925931 2p11.2 2 90221210A> C null Q P 60 60 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs773925931 2p11.2 2 90221210A> G null Q R 60 60 missense 0.331 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs767005448 2p11.2 2 90221212A> T null K * 61 61 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs749938114 2p11.2 2 90221213A> T null K I 61 61 missense 0.61 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs756138024 2p11.2 2 90221214A> T null K N 61 61 missense 0.622 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs749938114 2p11.2 2 90221213A> G null K R 61 61 missense 0.308 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369924135 2p11.2 2 90221215C> G null P A 62 62 2.0E-4 missense 0.308 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs754767775 2p11.2 2 90221216C> T null P L 62 62 missense 0.308 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs754767775 2p11.2 2 90221216C> A null P Q 62 62 missense 0.833 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369924135 2p11.2 2 90221215C> T null P S 62 62 2.0E-4 missense 0.436 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369924135 2p11.2 2 90221215C> A null P T 62 62 2.0E-4 missense 0.436 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186043133 2p11.2 2 90221219G> C null G A 63 63 7.99E-4 missense 0.433 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs186043133 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221219G> A null G E 63 63 7.99E-4 missense 0.728 possibly damaging 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373774905 2p11.2 2 90221218G> A null G R 63 63 9.98E-4 missense 0.967 probably damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1361187782 2p11.2 2 90221222A> T null K I 64 64 missense 0.171 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed rs770289957 2p11.2 2 90221224G> T null A S 65 65 missense 0.125 benign 0.4 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190501712 2p11.2 2 90221225C> T null A V 65 65 2.0E-4 missense 0.168 benign 0.09 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs769051005 2p11.2 2 90221227C> G null P A 66 66 missense 0.537 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs769051005 2p11.2 2 90221227C> T null P S 66 66 missense 0.956 probably damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs769051005 2p11.2 2 90221227C> A null P T 66 66 missense 0.956 probably damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,NCI-TCGA,gnomAD rs547296809 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221232G> C null E D 67 67 7.99E-4 missense 0.024 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs761433562 2p11.2 2 90221230G> A null E K 67 67 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs780966103 2p11.2 2 90221233C> T null L F 68 68 missense 0.168 benign 0.05 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,NCI-TCGA,gnomAD rs780966103 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221233C> A null L I 68 68 missense 0.694 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs780966103 2p11.2 2 90221233C> G null L V 68 68 missense 0.259 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1446643480 2p11.2 2 90221236C> G null L V 69 69 missense 0.541 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs765007276 2p11.2 2 90221239A> C null I L 70 70 missense 0.214 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,NCI-TCGA,gnomAD rs752522645 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221241C> G null I M 70 70 missense 0.752 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs756235837 2p11.2 2 90221243A> G null Y C 71 71 missense 0.414 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs565897530 2p11.2 2 90221242T> G null Y D 71 71 2.0E-4 missense 0.3 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs756235837 2p11.2 2 90221243A> T null Y F 71 71 missense 0.168 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs565897530 2p11.2 2 90221242T> C null Y H 71 71 2.0E-4 missense 0.168 benign 0.06 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs756235837 2p11.2 2 90221243A> C null Y S 71 71 missense 0.259 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,gnomAD rs374084493 2p11.2 2 90221246C> A null A D 72 72 7.99E-4 missense 0.003 benign 0.32 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,gnomAD rs374084493 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221246C> G null A G 72 72 7.99E-4 missense 0.0 benign 0.41 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1315099905 2p11.2 2 90221245G> A null A T 72 72 missense 0.013 benign 0.47 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,gnomAD rs374084493 2p11.2 2 90221246C> T null A V 72 72 7.99E-4 missense 0.009 benign 0.53 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,gnomAD rs370374282 2p11.2 2 90221249C> A null A E 73 73 missense 0.331 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs771658046 2p11.2 2 90221248G> A null A T 73 73 missense 0.166 benign 0.11 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,gnomAD rs370374282 2p11.2 2 90221249C> T null A V 73 73 missense 0.246 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs759603432 2p11.2 2 90221252C> G null S C 74 74 missense 0.871 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs759603432 2p11.2 2 90221252C> T null S F 74 74 missense 0.122 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs575931091 2p11.2 2 90221251T> A null S T 74 74 2.0E-4 missense 0.015 benign 0.22 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs759603432 2p11.2 2 90221252C> A null S Y 74 74 missense 0.195 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs752438385 2p11.2 2 90221255C> T null T I 75 75 missense 0.009 benign 0.12 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1203637714 2p11.2 2 90221254A> T null T S 75 75 missense 0.001 benign 1.0 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs752438385 2p11.2 2 90221255C> G null T S 75 75 missense 0.001 benign 1.0 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs536655299 2p11.2 2 90221258T> A null L * 76 76 2.0E-4 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs367577669 2p11.2 2 90221260C> T null Q * 77 77 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs367577669 2p11.2 2 90221260C> G null Q E 77 77 missense 0.005 benign 0.53 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed,gnomAD rs1169460326 2p11.2 2 90221261A> G null Q R 77 77 missense 0.02 benign 0.11 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs753859836 2p11.2 2 90221264G> T null S I 78 78 missense 0.222 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs753859836 2p11.2 2 90221264G> A null S N 78 78 missense 0.222 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs780167406 2p11.2 2 90221263A> C null S R 78 78 missense 0.097 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs753859836 2p11.2 2 90221264G> C null S T 78 78 missense 0.026 benign 0.38 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs755447316 2p11.2 2 90221267G> A null G E 79 79 missense 0.537 possibly damaging 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed rs969509383 2p11.2 2 90221266G> T null G W 79 79 missense 0.801 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs772531111 2p11.2 2 90221270T> A null V D 80 80 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs772531111 2p11.2 2 90221270T> G null V G 80 80 missense 0.903 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs748487826 2p11.2 2 90221269G> A null V I 80 80 missense 0.118 benign 0.17 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs746722482 2p11.2 2 90221272C> A null P T 81 81 missense 0.669 possibly damaging 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs770692300 2p11.2 2 90221278A> G null R G 83 83 missense 0.927 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed,gnomAD rs1272263436 2p11.2 2 90221280G> T null R S 83 83 missense 0.927 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed,gnomAD rs1272263436 2p11.2 2 90221280G> C null R S 83 83 missense 0.927 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs759018968 2p11.2 2 90221282T> G null F C 84 84 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs776293346 2p11.2 2 90221281T> A null F I 84 84 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs769651149 2p11.2 2 90221283C> A null F L 84 84 missense 0.648 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs776293346 2p11.2 2 90221281T> C null F L 84 84 missense 0.648 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs775547710 2p11.2 2 90221285G> A null S N 85 85 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs775547710 2p11.2 2 90221285G> C null S T 85 85 missense 0.436 benign 0.05 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs751344724 2p11.2 2 90221288G> A null G D 86 86 missense 0.866 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372314910 2p11.2 2 90221287G> A null G S 86 86 2.0E-4 missense 0.83 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs573422974 2p11.2 2 90221290A> G null S G 87 87 2.0E-4 missense 0.246 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed,gnomAD rs988253653 2p11.2 2 90221291G> A null S N 87 87 missense 0.903 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs573422974 2p11.2 2 90221290A> C null S R 87 87 2.0E-4 missense 0.246 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed,gnomAD rs988253653 2p11.2 2 90221291G> C null S T 87 87 missense 0.361 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs766525464 2p11.2 2 90221293G> T null G * 88 88 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,NCI-TCGA,gnomAD rs766525464 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221293G> A null G R 88 88 missense 0.619 possibly damaging 0.05 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1176998765 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221294G> T null G V 88 88 missense 0.537 possibly damaging 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1455149809 2p11.2 2 90221297C> T null S F 89 89 missense 0.246 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs753954390 2p11.2 2 90221296T> C null S P 89 89 missense 0.409 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,NCI-TCGA,gnomAD rs755041346 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221300G> A null G E 90 90 missense 0.433 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed rs1237971531 2p11.2 2 90221302A> G null T A 91 91 missense 0.246 benign 0.04 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs753283228 2p11.2 2 90221307T> A null D E 92 92 missense 0.108 benign 0.11 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed,gnomAD rs1349087495 2p11.2 2 90221309T> A null F Y 93 93 missense 0.154 benign 0.37 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs138677672 2p11.2 2 90221312C> T null T I 94 94 0.01138 missense 0.993 probably damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs778337478 2p11.2 2 90221314C> G null L V 95 95 missense 0.433 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs747317326 2p11.2 2 90221317A> G null T A 96 96 missense 0.433 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes rs367806282 2p11.2 2 90221318C> G null T S 96 96 2.0E-4 missense 0.57 possibly damaging 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs756973876 2p11.2 2 90221320A> G null I V 97 97 missense 0.774 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1351571546 2p11.2 2 90221323A> T null S C 98 98 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs546077214 2p11.2 2 90221324G> T null S I 98 98 2.0E-4 missense 0.348 benign 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs546077214 2p11.2 2 90221324G> A null S N 98 98 2.0E-4 missense 0.168 benign 0.1 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs546077214 2p11.2 2 90221324G> C null S T 98 98 2.0E-4 missense 0.259 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs17422604 2p11.2 2 90221328C> A null C * 99 99 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs749307011 2p11.2 2 90221327G> T null C F 99 99 missense 0.013 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs774859063 2p11.2 2 90221326T> A null C S 99 99 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs17422604 2p11.2 2 90221328C> G null C W 99 99 missense 0.133 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs749307011 2p11.2 2 90221327G> A null C Y 99 99 missense 0.018 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs766613689 2p11.2 2 90221329C> A null L M 100 100 missense 0.885 possibly damaging 0.06 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1181065745 2p11.2 2 90221330T> G null L R 100 100 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs532002660 2p11.2 2 90221332C> T null Q * 101 101 2.0E-4 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,NCI-TCGA,gnomAD rs550214215 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221334G> C null Q H 101 101 2.0E-4 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,gnomAD rs550214215 2p11.2 2 90221334G> T null Q H 101 101 2.0E-4 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,TOPMed,gnomAD rs532002660 2p11.2 2 90221332C> A null Q K 101 101 2.0E-4 missense 0.042 benign 0.06 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs759641591 2p11.2 2 90221335T> C null S P 102 102 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs529252775 2p11.2 2 90221342A> G null D G 104 104 2.0E-4 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1347838966 2p11.2 2 90221341G> A null D N 104 104 missense 0.738 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs529252775 2p11.2 2 90221342A> T null D V 104 104 2.0E-4 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1347838966 2p11.2 2 90221341G> T null D Y 104 104 missense 0.619 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs547906780 2p11.2 2 90221344T> A null F I 105 105 3.99E-4 missense 0.007 benign 0.29 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs764628076 2p11.2 2 90221345T> A null F Y 105 105 missense 0.033 benign 0.21 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs566034595 2p11.2 2 90221347G> C null A P 106 106 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,NCI-TCGA,gnomAD rs566034595 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221347G> T null A S 106 106 2.0E-4 missense 0.894 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs566034595 2p11.2 2 90221347G> A null A T 106 106 2.0E-4 missense 0.436 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,gnomAD rs372392180 2p11.2 2 90221350A> G null T A 107 107 missense 0.11 benign 0.07 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs376912375 2p11.2 2 90221351C> T null T I 107 107 missense 0.168 benign 0.13 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs376912375 2p11.2 2 90221351C> A null T N 107 107 missense 0.168 benign 0.06 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs376912375 2p11.2 2 90221351C> G null T S 107 107 missense 0.259 benign 0.07 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1481987447 2p11.2 2 90221354A> G null Y C 108 108 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 gnomAD rs1481987447 2p11.2 2 90221354A> T null Y F 108 108 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,NCI-TCGA,gnomAD rs774226856 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221357A> G null Y C 109 109 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368036626 2p11.2 2 90221356T> G null Y D 109 109 2.0E-4 missense 0.486 possibly damaging 0.01 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs774226856 2p11.2 2 90221357A> T null Y F 109 109 missense 0.154 benign 0.1 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368036626 2p11.2 2 90221356T> C null Y H 109 109 2.0E-4 missense 0.308 benign 0.04 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368036626 2p11.2 2 90221356T> A null Y N 109 109 2.0E-4 missense 0.945 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs772875149 2p11.2 2 90221359T> C null C R 110 110 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs759857125 2p11.2 2 90221360G> C null C S 110 110 missense 0.669 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs371888727 2p11.2 2 90221362C> T null Q * 111 111 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs371888727 2p11.2 2 90221362C> G null Q E 111 111 missense 0.045 benign 0.03 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,gnomAD rs763085165 2p11.2 2 90221363A> C null Q P 111 111 missense 0.783 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed rs1488499358 2p11.2 2 90221365C> T null Q * 112 112 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 TOPMed rs1488499358 2p11.2 2 90221365C> G null Q E 112 112 missense 0.259 benign 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs536918361 2p11.2 2 90221367G> C null Q H 112 112 2.0E-4 missense 0.168 benign 0.05 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs536918361 2p11.2 2 90221367G> T null Q H 112 112 2.0E-4 missense 0.168 benign 0.05 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,TOPMed,gnomAD rs569627456 2p11.2 2 90221366A> T null Q L 112 112 2.0E-4 missense 0.852 possibly damaging 0.0 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,TOPMed,gnomAD rs569627456 2p11.2 2 90221366A> G null Q R 112 112 2.0E-4 missense 0.168 benign 0.02 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 Ensembl rs1558651980 2p11.2 2 90221370T> A null Y * 113 113 stop gained 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs376578544 2p11.2 2 90221369A> G null Y C 113 113 missense 0.013 benign 0.12 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 Ensembl rs1558651972 2p11.2 2 90221368T> C null Y H 113 113 missense 0.003 benign 0.45 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs555218674 2p11.2 2 90221372A> G null Y C 114 114 3.99E-4 missense 0.566 possibly damaging 0.15 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs757835919 2p11.2 2 90221371T> G null Y D 114 114 missense 0.003 benign 0.21 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs555218674 2p11.2 2 90221372A> T null Y F 114 114 3.99E-4 missense 0.013 benign 0.6 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed,gnomAD rs757835919 2p11.2 2 90221371T> A null Y N 114 114 missense 0.0 benign 0.35 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,NCI-TCGA,gnomAD rs534313172 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221374A> G null S G 115 115 2.0E-4 missense 0.02 benign 0.04 deleterious 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs553079533 2p11.2 2 90221375G> A null S N 115 115 3.99E-4 missense 0.012 benign 0.31 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs577618467 2p11.2 2 90221377T> A null F I 116 116 5.99E-4 missense 0.001 benign 0.24 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ExAC,TOPMed rs748154211 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2p11.2 2 90221379C> A null F L 116 116 missense 0.0 benign 0.51 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 1000Genomes,ExAC,gnomAD rs577618467 2p11.2 2 90221377T> C null F L 116 116 5.99E-4 missense 0.0 benign 0.51 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs369142049 2p11.2 2 90221378T> C null F S 116 116 missense 0.0 benign 0.49 tolerated 0 A0A087WSZ0 IGKV1D-8 Immunoglobulin kappa variable 1D-8 ESP,ExAC,TOPMed,gnomAD rs369142049 2p11.2 2 90221378T> A null F Y 116 116 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1404133736 11q13.2 11 66546518T> A null I K 3 3 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1452223078 11q13.2 11 66546519A> G null I M 3 3 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1310425741 11q13.2 11 66546520G> A null G R 4 4 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,gnomAD rs565196557 11q13.2 11 66546523C> A null L I 5 5 2.0E-4 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs777535116 11q13.2 11 66546524T> C null L P 5 5 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,gnomAD rs565196557 11q13.2 11 66546523C> G null L V 5 5 2.0E-4 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs746540484 11q13.2 11 66546529G> A null V I 7 7 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs746540484 11q13.2 11 66546529G> C null V L 7 7 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1460564571 11q13.2 11 66546535C> T null P S 9 9 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs769391738 11q13.2 11 66546539C> A null A E 10 10 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1370349215 11q13.2 11 66546542G> C null R T 11 11 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs527798603 11q13.2 11 66546544T> C null C R 12 12 3.99E-4 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs917294820 11q13.2 11 66546554G> A null R K 15 15 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1252368759 11q13.2 11 66546557T> C null L P 16 16 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1172108574 11q13.2 11 66546566G> C null S T 19 19 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs781556312 11q13.2 11 66546572G> T null R I 21 21 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs781556312 11q13.2 11 66546572G> A null R K 21 21 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1044922806 11q13.2 11 66546575G> C null G A 22 22 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1044922806 11q13.2 11 66546575G> A null G E 22 22 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1178613692 11q13.2 11 66546577C> T null Q * 23 23 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1472759693 11q13.2 11 66546578A> G null Q R 23 23 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1011379817 11q13.2 11 66546581C> T null P L 24 24 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1469452780 11q13.2 11 66546587A> T null E V 26 26 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1199450526 11q13.2 11 66546590G> T null R L 27 27 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1262951999 11q13.2 11 66546598G> C null A P 30 30 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1399059348 11q13.2 11 66546604A> G null I V 32 32 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1389975755 11q13.2 11 66546614G> A null G D 35 35 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1350211260 11q13.2 11 66546616C> T null L F 36 36 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1328612682 11q13.2 11 66546625G> A null V M 39 39 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1004521644 11q13.2 11 66546630G> T null E D 40 40 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1332144266 11q13.2 11 66546635G> A null S N 42 42 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1332144266 11q13.2 11 66546635G> C null S T 42 42 missense 0.0 unknown 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1280784328 11q13.2 11 66546647A> G null Q R 46 46 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1322268582 11q13.2 11 66546652G> C null G R 48 48 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1322268582 11q13.2 11 66546652G> A null G S 48 48 missense 0.0 unknown 0.23 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1218857101 11q13.2 11 66546656C> T null P L 49 49 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1565301024 11q13.2 11 66546661G> C null D H 51 51 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs770190734 11q13.2 11 66546671G> A null R K 54 54 missense 0.0 unknown 0.14 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes rs183559947 11q13.2 11 66546674C> A null S * 55 55 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1267816149 11q13.2 11 66546689C> G null A G 60 60 missense 0.0 unknown 0.16 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1412009229 11q13.2 11 66546692C> A null A E 61 61 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1416237817 11q13.2 11 66546691G> T null A S 61 61 missense 0.0 unknown 0.16 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1412009229 11q13.2 11 66546692C> T null A V 61 61 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs992418985 11q13.2 11 66546700G> A null E K 64 64 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs992418985 11q13.2 11 66546700G> C null E Q 64 64 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1266854586 11q13.2 11 66546716T> C null I T 69 69 missense 0.0 unknown 0.31 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1171244638 11q13.2 11 66546721G> A null A T 71 71 missense 0.0 unknown 0.51 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1460691067 11q13.2 11 66546724G> A null A T 72 72 missense 0.0 unknown 0.24 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs763277506 11q13.2 11 66546725C> T null A V 72 72 missense 0.0 unknown 0.05 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs979258970 11q13.2 11 66546728G> A null R K 73 73 missense 0.0 unknown 0.2 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs774504213 11q13.2 11 66546730T> C null S P 74 74 missense 0.0 unknown 0.15 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs762648695 11q13.2 11 66546737C> T null P L 76 76 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs762648695 11q13.2 11 66546737C> A null P Q 76 76 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1344306034 11q13.2 11 66546740C> G null A G 77 77 missense 0.0 unknown 0.11 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs529919939 11q13.2 11 66546743C> A null P H 78 78 9.98E-4 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs529919939 11q13.2 11 66546743C> T null P L 78 78 9.98E-4 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,TOPMed,gnomAD rs143162807 11q13.2 11 66546746C> T null P L 79 79 missense 0.0 unknown 0.26 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,TOPMed,gnomAD rs143162807 11q13.2 11 66546746C> A null P Q 79 79 missense 0.0 unknown 0.3 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,TOPMed,gnomAD rs143162807 11q13.2 11 66546746C> G null P R 79 79 missense 0.0 unknown 0.63 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1187146662 11q13.2 11 66546779C> T null P L 90 90 missense 0.0 unknown 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs552358681 11q13.2 11 66546781T> G null C G 91 91 2.0E-4 missense 0.0 unknown 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1270455118 11q13.2 11 66551243T> C null F S 94 94 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs966558855 11q13.2 11 66551246C> T null T I 95 95 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1565303424 11q13.2 11 66551245A> T null T S 95 95 missense 0.869 possibly damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs760486468 11q13.2 11 66551251T> C null W R 97 97 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs770599029 11q13.2 11 66551254T> C null C R 98 98 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1168827560 11q13.2 11 66551263C> A null H N 101 101 missense 0.94 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1168827560 11q13.2 11 66551263C> T null H Y 101 101 missense 0.915 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs759059596 11q13.2 11 66551269C> T null R C 103 103 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs774833491 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66551270G> A null R H 103 103 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs774833491 11q13.2 11 66551270G> T null R L 103 103 missense 0.926 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs763421087 11q13.2 11 66551273A> C null K T 104 104 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs900010042 11q13.2 11 66551279G> T null G V 106 106 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1252823244 11q13.2 11 66551281A> G null T A 107 107 missense 0.751 possibly damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1337270345 11q13.2 11 66551284C> T null Q * 108 108 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs751902903 11q13.2 11 66551286G> T null Q H 108 108 missense 0.342 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1292322577 11q13.2 11 66551287A> G null I V 109 109 missense 0.22 benign 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs757650045 11q13.2 11 66551290G> A null E K 110 110 missense 0.055 benign 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376028578 11q13.2 11 66551296A> G null I V 112 112 2.0E-4 missense 0.105 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs756395726 11q13.2 11 66551299G> A null E K 113 113 missense 0.081 benign 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1424598917 11q13.2 11 66551307T> G null D E 115 115 missense 0.909 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs780052561 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66551311C> T null R C 117 117 missense 0.987 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs202165715 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66551312G> A null R H 117 117 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs202165715 11q13.2 11 66551312G> T null R L 117 117 missense 0.926 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1382112791 11q13.2 11 66551315A> G null N S 118 118 missense 0.001 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs758304800 11q13.2 11 66551318G> C null G A 119 119 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs758304800 11q13.2 11 66551318G> A null G D 119 119 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1366693648 11q13.2 11 66551320C> T null L F 120 120 missense 0.967 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1427136891 11q13.2 11 66551324A> G null K R 121 121 missense 0.892 possibly damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs369975190 11q13.2 11 66551326C> T null L F 122 122 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs369975190 11q13.2 11 66551326C> A null L I 122 122 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs764784538 11q13.2 11 66551329A> T null M L 123 123 missense 0.566 possibly damaging 0.26 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1362588103 11q13.2 11 66551335C> T null L F 125 125 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1362588103 11q13.2 11 66551335C> A null L I 125 125 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1220211398 11q13.2 11 66551341G> C null E Q 127 127 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs762487347 11q13.2 11 66551344G> A null V I 128 128 missense 0.534 possibly damaging 0.15 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1310660071 11q13.2 11 66551349T> G null I M 129 129 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs764535103 11q13.2 11 66551348T> C null I T 129 129 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs774866900 11q13.2 11 66551353G> C null G R 131 131 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs773998294 11q13.2 11 66551534G> A null R K 133 133 missense 0.73 possibly damaging 0.24 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1176778136 11q13.2 11 66551537T> C null L P 134 134 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs999104173 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66551539C> T null P S 135 135 missense 0.181 benign 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1407865191 11q13.2 11 66551546C> A null P Q 137 137 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs952736698 11q13.2 11 66551557A> C null K Q 141 141 missense 0.865 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs138699570 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66551563C> T null R C 143 143 3.99E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl,NCI-TCGA rs763136343 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66551564G> A null R H 143 143 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138699570 11q13.2 11 66551563C> A null R S 143 143 3.99E-4 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs373402473 11q13.2 11 66551574A> C null K N 146 146 missense 0.993 probably damaging 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1290257280 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66551578G> A null A T 148 148 missense 0.233 benign 0.41 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs766530255 11q13.2 11 66551581A> G null N D 149 149 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs754033055 11q13.2 11 66551582A> G null N S 149 149 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs765424415 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66551584G> A null V I 150 150 missense 0.054 benign 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1278994429 11q13.2 11 66551590A> G null K E 152 152 missense 0.003 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1022686877 11q13.2 11 66551591A> G null K R 152 152 missense 0.073 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs752752198 11q13.2 11 66551602T> C null F L 156 156 missense 0.815 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1255821979 11q13.2 11 66551606T> C null I T 157 157 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs908832107 11q13.2 11 66551605A> G null I V 157 157 missense 0.363 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs757226651 11q13.2 11 66551609C> A null A D 158 158 missense 0.111 benign 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs756549097 11q13.2 11 66551608G> A null A T 158 158 missense 0.026 benign 0.14 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1179528297 11q13.2 11 66551612G> A null S N 159 159 missense 0.599 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1248965969 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66551613C> A null S R 159 159 missense 0.975 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs780253115 11q13.2 11 66551616G> C null K N 160 160 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1327754539 11q13.2 11 66551618G> T null G V 161 161 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs750243492 11q13.2 11 66551620G> T null V F 162 162 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs750243492 11q13.2 11 66551620G> A null V I 162 162 missense 0.816 possibly damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs755883156 11q13.2 11 66551623A> C null K Q 163 163 missense 0.865 possibly damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC rs779581930 11q13.2 11 66551626C> A null L M 164 164 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs370614471 11q13.2 11 66551636T> C null I T 167 167 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs533712814 11q13.2 11 66551639G> A null G D 168 168 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs778611371 11q13.2 11 66551638G> A null G S 168 168 missense 0.996 probably damaging 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs569022261 11q13.2 11 66551645A> C null E A 170 170 missense 0.949 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs772734725 11q13.2 11 66551644G> A null E K 170 170 missense 0.927 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs778666308 11q13.2 11 66554050G> A null V I 173 173 missense 0.225 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs771648881 11q13.2 11 66554055C> G null D E 174 174 missense 0.894 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs747680597 11q13.2 11 66554054A> T null D V 174 174 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs780639406 11q13.2 11 66554056G> C null G R 175 175 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs780639406 11q13.2 11 66554056G> A null G R 175 175 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1291398877 11q13.2 11 66554060A> T null N I 176 176 missense 0.101 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs896722096 11q13.2 11 66554063T> A null L Q 177 177 missense 0.258 benign 0.57 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1449434373 11q13.2 11 66554070G> A null M I 179 179 missense 0.555 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs771328993 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66554072C> T null T I 180 180 missense 0.994 probably damaging 0.16 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed rs747618047 11q13.2 11 66554071A> C null T P 180 180 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs777094184 11q13.2 11 66554078G> C null G A 182 182 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs746180482 11q13.2 11 66554082G> T null M I 183 183 missense 0.687 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1362614028 11q13.2 11 66554083A> T null I F 184 184 missense 0.95 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1165453661 11q13.2 11 66554088G> A null W * 185 185 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs374050345 11q13.2 11 66554087G> A null W * 185 185 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs770027850 11q13.2 11 66554086T> G null W G 185 185 missense 0.782 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377124055 11q13.2 11 66554096T> C null I T 188 188 3.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs71457727 11q13.2 11 66554098C> T null L F 189 189 missense 0.869 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs370463721 11q13.2 11 66554101C> T null R C 190 190 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs774285672 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66554102G> A null R H 190 190 missense 0.929 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374445358 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66554107G> A null A T 192 192 missense 0.424 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs372926742 11q13.2 11 66554117A> G null D G 195 195 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs367706008 11q13.2 11 66554116G> C null D H 195 195 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs988327948 11q13.2 11 66554120T> A null I N 196 196 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1227197706 11q13.2 11 66554122T> G null S A 197 197 missense 0.644 possibly damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs972128921 11q13.2 11 66554126T> C null V A 198 198 missense 0.925 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1247165125 11q13.2 11 66554131G> A null E K 200 200 missense 0.927 probably damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1322976363 11q13.2 11 66554545C> G null A G 203 203 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs543883614 11q13.2 11 66554554G> C null G A 206 206 2.0E-4 missense 0.987 probably damaging 0.46 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs543883614 11q13.2 11 66554554G> T null G V 206 206 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1407409468 11q13.2 11 66554557T> G null L W 207 207 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs574539717 11q13.2 11 66554559C> T null L F 208 208 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1345727860 11q13.2 11 66554560T> C null L P 208 208 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1273370576 11q13.2 11 66554563T> C null L P 209 209 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs543456238 11q13.2 11 66554568T> G null C G 211 211 2.0E-4 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs748276099 11q13.2 11 66554569G> A null C Y 211 211 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs909197162 11q13.2 11 66554572A> G null Q R 212 212 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1037444449 11q13.2 11 66554581C> T null T I 215 215 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs771981040 11q13.2 11 66554583G> A null A T 216 216 missense 0.938 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370740496 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66554587C> T null P L 217 217 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1276610077 11q13.2 11 66554586C> T null P S 217 217 missense 0.966 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs769832794 11q13.2 11 66554591C> A null Y * 218 218 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs775456822 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66554592C> T null R C 219 219 missense 0.718 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1201348087 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66554593G> A null R H 219 219 missense 0.458 possibly damaging 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1201348087 11q13.2 11 66554593G> C null R P 219 219 missense 0.597 possibly damaging 0.56 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs563563593 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66554598G> A null V I 221 221 2.0E-4 missense 0.729 possibly damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs532326834 11q13.2 11 66554604G> A null V M 223 223 3.99E-4 missense 0.735 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1390913607 11q13.2 11 66554617A> G null H R 227 227 missense 0.914 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs767162465 11q13.2 11 66555133G> A null W * 230 230 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs767162465 11q13.2 11 66555133G> T null W C 230 230 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1227065800 11q13.2 11 66555137G> A null D N 232 232 missense 0.978 probably damaging 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1463781047 11q13.2 11 66555141G> C null G A 233 233 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs375901785 11q13.2 11 66555146G> A null A T 235 235 missense 0.437 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1427291442 11q13.2 11 66555156C> G null A G 238 238 missense 0.907 possibly damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs894052808 11q13.2 11 66555162T> G null I S 240 240 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368333449 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q13.2 11 66555167C> T null R * 242 242 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs34515982 11q13.2 11 66555168G> C null R P 242 242 missense 0.985 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs34515982 11q13.2 11 66555168G> A null R Q 242 242 missense 0.884 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs765678198 11q13.2 11 66555173C> T null R C 244 244 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs566281518 11q13.2 11 66555174G> A null R H 244 244 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs758588679 11q13.2 11 66555176C> T null P S 245 245 missense 0.966 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1305427644 11q13.2 11 66555180A> G null D G 246 246 missense 0.394 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs376094609 11q13.2 11 66555182C> T null L F 247 247 2.0E-4 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1263672610 11q13.2 11 66555183T> C null L P 247 247 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1354966216 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66555188G> A null D N 249 249 missense 0.956 probably damaging 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs749294085 11q13.2 11 66555194G> A null A T 251 251 missense 0.027 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1327388370 11q13.2 11 66555197A> G null K E 252 252 missense 0.898 possibly damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1388579187 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66555200C> G null L V 253 253 missense 0.921 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1208449597 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q13.2 11 66555203C> T null R * 254 254 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200452235 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66555204G> A null R Q 254 254 0.007987 missense 0.884 possibly damaging 0.11 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1303583670 11q13.2 11 66555287A> G null D G 256 256 missense 0.978 probably damaging 0.13 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1381590156 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66555286G> A null D N 256 256 missense 0.953 probably damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375953442 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66555297C> G null I M 259 259 3.99E-4 missense 0.005 benign 0.25 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1426845971 11q13.2 11 66555295A> G null I V 259 259 missense 0.0 benign 0.55 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201617889 11q13.2 11 66555298G> A null G R 260 260 3.99E-4 missense 0.905 possibly damaging 0.5 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376771744 11q13.2 11 66555321G> C null E D 267 267 5.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes rs550530030 11q13.2 11 66555320A> G null E G 267 267 2.0E-4 missense 0.108 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs759047603 11q13.2 11 66555319G> A null E K 267 267 missense 0.052 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1217784639 11q13.2 11 66555330G> T null E D 270 270 missense 0.751 possibly damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1231339718 11q13.2 11 66555354G> A null M I 278 278 missense 0.687 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs764609882 11q13.2 11 66555352A> T null M L 278 278 missense 0.566 possibly damaging 0.36 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144340728 11q13.2 11 66555362C> T null A V 281 281 0.003594 missense 0.947 probably damaging 0.22 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1257828880 11q13.2 11 66555366A> C null E D 282 282 missense 0.0 benign 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1248055016 11q13.2 11 66555364G> A null E K 282 282 missense 0.072 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs904154309 11q13.2 11 66555367G> A null D N 283 283 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs763563667 11q13.2 11 66556148T> C null I T 284 284 missense 0.207 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs978226473 11q13.2 11 66556155C> A null N K 286 286 missense 0.059 benign 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1416134077 11q13.2 11 66556156A> G null T A 287 287 missense 0.869 possibly damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes rs528786989 11q13.2 11 66556157C> T null T I 287 287 2.0E-4 missense 0.99 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1416134077 11q13.2 11 66556156A> T null T S 287 287 missense 0.869 possibly damaging 0.22 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs769252562 11q13.2 11 66556164G> T null K N 289 289 missense 0.326 benign 0.18 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs146294881 11q13.2 11 66556166C> T null P L 290 290 0.001997 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs146294881 11q13.2 11 66556166C> G null P R 290 290 0.001997 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs762216717 11q13.2 11 66556165C> T null P S 290 290 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1326338491 11q13.2 11 66556171G> A null E K 292 292 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1449458702 11q13.2 11 66556174A> G null K E 293 293 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1366402569 11q13.2 11 66556176G> T null K N 293 293 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs766541156 11q13.2 11 66556177G> C null A P 294 294 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs753840756 11q13.2 11 66556182C> G null I M 295 295 missense 0.16 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1376417436 11q13.2 11 66556180A> G null I V 295 295 missense 0.0 benign 0.61 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs777648091 11q13.2 11 66556184T> C null M T 296 296 missense 0.872 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs758373311 11q13.2 11 66556183A> G null M V 296 296 missense 0.425 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs368334575 11q13.2 11 66556190A> G null Y C 298 298 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1283343900 11q13.2 11 66556195T> A null S T 300 300 missense 0.767 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs139548317 11q13.2 11 66556199G> A null C Y 301 301 2.0E-4 missense 0.992 probably damaging 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs745590457 11q13.2 11 66556201T> C null F L 302 302 missense 0.169 benign 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1187353660 11q13.2 11 66556211C> A null A D 305 305 missense 0.99 probably damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs769307600 11q13.2 11 66556210G> A null A T 305 305 missense 0.971 probably damaging 0.16 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1187353660 11q13.2 11 66556211C> T null A V 305 305 missense 0.947 probably damaging 0.24 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1384786701 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66556220G> A null G E 308 308 missense 0.998 probably damaging 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs748764474 11q13.2 11 66556219G> A null G R 308 308 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1565306080 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66556222G> A null A T 309 309 missense 0.125 benign 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,gnomAD rs372129294 11q13.2 11 66556223C> T null A V 309 309 missense 0.105 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs762276246 11q13.2 11 66556226A> C null E A 310 310 missense 0.105 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs748817302 11q13.2 11 66557136G> T null E * 313 313 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1194160007 11q13.2 11 66557140C> T null T I 314 314 missense 0.978 probably damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1250019448 11q13.2 11 66557145G> T null A S 316 316 missense 0.93 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1251594898 11q13.2 11 66557167T> A null L Q 323 323 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs796842987 11q13.2 11 66557170C> A null A E 324 324 missense 0.978 probably damaging 0.94 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1454207312 11q13.2 11 66557173T> C null V A 325 325 missense 0.925 probably damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs748725379 11q13.2 11 66557181G> A null E K 328 328 missense 0.927 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1388194424 11q13.2 11 66557189G> T null E D 330 330 missense 0.751 possibly damaging 0.14 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs938568949 11q13.2 11 66557187G> A null E K 330 330 missense 0.932 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs773667032 11q13.2 11 66557198G> A null M I 333 333 missense 0.362 benign 0.31 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1370056274 11q13.2 11 66557197T> C null M T 333 333 missense 0.756 possibly damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1323644541 11q13.2 11 66557196A> G null M V 333 333 missense 0.251 benign 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs993179650 11q13.2 11 66557202G> A null E K 335 335 missense 0.103 benign 0.25 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1362967914 11q13.2 11 66557214C> T null L F 339 339 missense 0.329 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes rs542222053 11q13.2 11 66557217G> A null A T 340 340 2.0E-4 missense 0.968 probably damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs917923434 11q13.2 11 66557220A> G null S G 341 341 missense 0.824 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs747298153 11q13.2 11 66557221G> A null S N 341 341 missense 0.599 possibly damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs747298153 11q13.2 11 66557221G> C null S T 341 341 missense 0.599 possibly damaging 0.14 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1168968221 11q13.2 11 66557707G> C null E D 345 345 missense 0.0 benign 0.24 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs746136942 11q13.2 11 66557706A> G null E G 345 345 missense 0.155 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs776965942 11q13.2 11 66557705G> A null E K 345 345 missense 0.077 benign 0.13 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs996496796 11q13.2 11 66557709G> A null W * 346 346 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1303288798 11q13.2 11 66557708T> A null W R 346 346 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs769970803 11q13.2 11 66557714C> T null R C 348 348 missense 0.53 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs775576167 11q13.2 11 66557715G> A null R H 348 348 missense 0.155 benign 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs375241946 11q13.2 11 66557717C> T null R C 349 349 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs538173919 11q13.2 11 66557718G> A null R H 349 349 5.99E-4 missense 0.961 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs772952465 11q13.2 11 66557720A> C null T P 350 350 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1257063574 11q13.2 11 66557723G> A null V I 351 351 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs766338231 11q13.2 11 66557726C> T null P S 352 352 missense 0.966 probably damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1199403564 11q13.2 11 66557732C> A null L M 354 354 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200574979 11q13.2 11 66557741C> T null R C 357 357 0.001797 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs764944862 11q13.2 11 66557742G> A null R H 357 357 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs549338699 11q13.2 11 66557750G> C null E Q 360 360 missense 0.926 probably damaging 0.47 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs778349304 11q13.2 11 66557760T> C null M T 363 363 missense 0.045 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1432829883 11q13.2 11 66557770G> A null M I 366 366 missense 0.687 possibly damaging 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs752062387 11q13.2 11 66557772A> G null Q R 367 367 missense 0.915 probably damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374716398 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66557774C> T null R C 368 368 missense 0.339 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369932492 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66557775G> A null R H 368 368 missense 0.11 benign 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs369932492 11q13.2 11 66557775G> T null R L 368 368 missense 0.031 benign 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs746190000 11q13.2 11 66557777A> C null K Q 369 369 missense 0.633 possibly damaging 0.4 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1329833287 11q13.2 11 66557784A> G null E G 371 371 missense 0.966 probably damaging 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs780187824 11q13.2 11 66557789T> C null F L 373 373 missense 0.945 probably damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201487054 11q13.2 11 66557793G> A null R Q 374 374 0.003594 missense 0.967 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1232811519 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66557792C> T null R W 374 374 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1342165629 11q13.2 11 66557795G> T null D Y 375 375 missense 0.469 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs931067920 11q13.2 11 66557800C> A null Y * 376 376 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs376592844 11q13.2 11 66557801C> G null R G 377 377 missense 0.984 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs770965934 11q13.2 11 66557802G> A null R Q 377 377 missense 0.944 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs376592844 11q13.2 11 66557801C> T null R W 377 377 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs759356391 11q13.2 11 66557805G> A null R H 378 378 missense 0.961 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs764995968 11q13.2 11 66557812C> G null H Q 380 380 missense 0.871 possibly damaging 0.15 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1452487798 11q13.2 11 66557810C> T null H Y 380 380 missense 0.831 possibly damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs919907864 11q13.2 11 66557817C> T null P L 382 382 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1390719516 11q13.2 11 66557816C> T null P S 382 382 missense 0.984 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369473048 11q13.2 11 66557822C> T null R C 384 384 5.99E-4 missense 0.556 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,gnomAD rs373409167 11q13.2 11 66557823G> A null R H 384 384 2.0E-4 missense 0.386 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs763560182 11q13.2 11 66557825A> T null I F 385 385 missense 0.003 benign 0.57 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs377498768 11q13.2 11 66557832A> C null E A 387 387 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs370591007 11q13.2 11 66557833A> C null E D 387 387 missense 0.869 possibly damaging 0.14 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs370591007 11q13.2 11 66557833A> T null E D 387 387 missense 0.869 possibly damaging 0.14 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs556150704 11q13.2 11 66557842G> C null Q H 390 390 2.0E-4 missense 0.944 probably damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs556150704 11q13.2 11 66557842G> T null Q H 390 390 2.0E-4 missense 0.944 probably damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1342423372 11q13.2 11 66557847A> C null E A 392 392 missense 0.949 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1565307055 11q13.2 11 66557850T> C null I T 393 393 missense 0.977 probably damaging 0.76 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs756399314 11q13.2 11 66557853A> G null N S 394 394 missense 0.003 benign 0.48 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1375451956 11q13.2 11 66557857C> G null F L 395 395 missense 0.907 possibly damaging 0.39 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1221925295 11q13.2 11 66557861A> G null T A 397 397 missense 0.751 possibly damaging 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,gnomAD rs373370220 11q13.2 11 66557865T> A null L Q 398 398 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1192812672 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q13.2 11 66557867C> T null Q * 399 399 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1192812672 11q13.2 11 66557867C> A null Q K 399 399 missense 0.416 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs748223048 11q13.2 11 66557880G> C null R P 403 403 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs748223048 11q13.2 11 66557880G> A null R Q 403 403 missense 0.884 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371613741 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66557879C> T null R W 403 403 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs575834618 11q13.2 11 66557883T> C null L P 404 404 2.0E-4 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs759411497 11q13.2 11 66557892G> A null R Q 407 407 missense 0.944 probably damaging 0.26 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1428006874 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66557891C> T null R W 407 407 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs769779821 11q13.2 11 66557894C> T null P S 408 408 missense 0.966 probably damaging 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs762551548 11q13.2 11 66557897G> C null A P 409 409 missense 0.979 probably damaging 0.41 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs763762169 11q13.2 11 66557903A> G null M V 411 411 missense 0.251 benign 0.39 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368474114 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66557912G> A null E K 414 414 missense 0.932 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs368474114 11q13.2 11 66557912G> C null E Q 414 414 missense 0.959 probably damaging 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed rs750992462 11q13.2 11 66557916G> A null G D 415 415 missense 0.994 probably damaging 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1475101144 11q13.2 11 66557920G> C null K N 416 416 missense 0.989 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs766706071 11q13.2 11 66557922T> G null L R 417 417 missense 0.302 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC rs756597388 11q13.2 11 66557921C> G null L V 417 417 missense 0.038 benign 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201536131 11q13.2 11 66557928C> T null S L 419 419 2.0E-4 missense 0.947 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1413176606 11q13.2 11 66558029C> G null D E 420 420 missense 0.819 possibly damaging 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs778038749 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66558033G> A null A T 422 422 missense 0.06 benign 0.19 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs991670863 11q13.2 11 66558037A> G null N S 423 423 missense 0.751 possibly damaging 0.63 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371756314 11q13.2 11 66558039G> A null A T 424 424 0.001198 missense 0.319 benign 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs533701712 11q13.2 11 66558044G> A null W * 425 425 3.99E-4 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1439814582 11q13.2 11 66558043G> A null W * 425 425 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375781686 11q13.2 11 66558045C> G null R G 426 426 7.99E-4 missense 0.0 benign 0.32 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs369005221 11q13.2 11 66558046G> T null R L 426 426 missense 0.043 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369005221 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66558046G> A null R Q 426 426 missense 0.018 benign 0.77 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375781686 11q13.2 11 66558045C> T null R W 426 426 7.99E-4 missense 0.529 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs771359538 11q13.2 11 66558049G> A null G E 427 427 missense 0.79 possibly damaging 0.47 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs199741304 11q13.2 11 66558048G> A null G R 427 427 missense 0.803 possibly damaging 0.63 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs199741304 11q13.2 11 66558048G> T null G W 427 427 missense 0.918 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1168034112 11q13.2 11 66558051C> A null L M 428 428 missense 0.983 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs377760740 11q13.2 11 66558052T> C null L P 428 428 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1295443077 11q13.2 11 66558054G> C null E Q 429 429 missense 0.926 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1327934779 11q13.2 11 66558057C> T null Q * 430 430 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs765693225 11q13.2 11 66558058A> G null Q R 430 430 missense 0.093 benign 0.21 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs763298569 11q13.2 11 66558069G> A null G S 434 434 missense 0.99 probably damaging 0.11 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs577663573 11q13.2 11 66558073A> G null Y C 435 435 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1252013062 11q13.2 11 66558076A> C null E A 436 436 missense 0.949 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs751702499 11q13.2 11 66558077G> C null E D 436 436 missense 0.751 possibly damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs757294826 11q13.2 11 66558078G> A null D N 437 437 missense 0.083 benign 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1040736871 11q13.2 11 66558083G> A null W * 438 438 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1040736871 11q13.2 11 66558083G> C null W C 438 438 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1459786551 11q13.2 11 66558081T> C null W R 438 438 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs781124008 11q13.2 11 66558082G> C null W S 438 438 missense 0.99 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs900805525 11q13.2 11 66558084C> A null L M 439 439 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs754847138 11q13.2 11 66558091C> T null S L 441 441 missense 0.0 benign 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1247773260 11q13.2 11 66558094A> C null E A 442 442 missense 0.976 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1247773260 11q13.2 11 66558094A> T null E V 442 442 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs747900211 11q13.2 11 66558098C> G null I M 443 443 missense 0.958 probably damaging 0.27 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs777352539 11q13.2 11 66558100G> A null R Q 444 444 missense 0.884 possibly damaging 0.35 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs552002828 11q13.2 11 66558099C> T null R W 444 444 missense 0.988 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs746507012 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66558102C> T null R C 445 445 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs746507012 11q13.2 11 66558102C> G null R G 445 445 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,gnomAD rs770542513 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66558103G> A null R H 445 445 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs536382550 11q13.2 11 66558111C> T null R * 448 448 2.0E-4 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs555878172 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66558112G> A null R Q 448 448 2.0E-4 missense 0.884 possibly damaging 0.13 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1328219808 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q13.2 11 66558117C> T null Q * 450 450 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1225367504 11q13.2 11 66558122C> G null H Q 451 451 missense 0.937 probably damaging 0.36 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1028224789 11q13.2 11 66558127C> A null A D 453 453 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1028224789 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66558127C> T null A V 453 453 missense 0.969 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs776018782 11q13.2 11 66558129G> C null E Q 454 454 missense 0.926 probably damaging 0.4 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs763352082 11q13.2 11 66558133A> T null K M 455 455 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs764415736 11q13.2 11 66558135T> C null F L 456 456 missense 0.945 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs371569219 11q13.2 11 66558137C> A null F L 456 456 missense 0.945 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1010732231 11q13.2 11 66558139G> C null R P 457 457 missense 0.051 benign 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1010732231 11q13.2 11 66558139G> A null R Q 457 457 missense 0.0 benign 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs200842599 11q13.2 11 66558138C> T null R W 457 457 missense 0.192 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1022166396 11q13.2 11 66558145A> G null K R 459 459 missense 0.948 probably damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,gnomAD rs538261747 11q13.2 11 66558148C> G null A G 460 460 2.0E-4 missense 0.025 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201812719 11q13.2 11 66558147G> T null A S 460 460 0.002396 missense 0.006 benign 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201812719 11q13.2 11 66558147G> A null A T 460 460 0.002396 missense 0.051 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1191884706 11q13.2 11 66558154T> C null L P 462 462 missense 0.648 possibly damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs370647530 11q13.2 11 66558158C> G null H Q 463 463 missense 0.962 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs752506679 11q13.2 11 66558159G> A null E K 464 464 missense 0.114 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1416975204 11q13.2 11 66558163C> A null A D 465 465 missense 0.034 benign 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1416975204 11q13.2 11 66558163C> G null A G 465 465 missense 0.015 benign 0.13 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1162510427 11q13.2 11 66558162G> T null A S 465 465 missense 0.0 benign 0.37 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1454121342 11q13.2 11 66558169C> T null T I 467 467 missense 0.931 probably damaging 0.23 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs777539846 11q13.2 11 66558172G> C null R P 468 468 missense 0.132 benign 0.16 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs777539846 11q13.2 11 66558172G> A null R Q 468 468 missense 0.043 benign 0.53 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199897168 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66558171C> T null R W 468 468 missense 0.453 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1310542593 11q13.2 11 66559236G> C null G A 469 469 missense 0.606 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs756839439 11q13.2 11 66558174G> A null G R 469 469 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs772355552 11q13.2 11 66559242A> C null E A 471 471 missense 0.525 possibly damaging 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs773244688 11q13.2 11 66559243G> C null E D 471 471 missense 0.269 benign 0.13 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs748414364 11q13.2 11 66559241G> A null E K 471 471 missense 0.609 possibly damaging 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs201302484 11q13.2 11 66559245A> T null E V 472 472 missense 0.012 benign 0.19 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs776671067 11q13.2 11 66559251T> G null L R 474 474 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs569706018 11q13.2 11 66559255C> G null S R 475 475 3.99E-4 missense 0.01 benign 0.29 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs751381973 11q13.2 11 66559256C> T null Q * 476 476 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs756933832 11q13.2 11 66559259C> T null R C 477 477 missense 0.432 benign 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs756933832 11q13.2 11 66559259C> G null R G 477 477 missense 0.062 benign 0.21 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs756933832 11q13.2 11 66559259C> A null R S 477 477 missense 0.045 benign 0.35 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs779747275 11q13.2 11 66559263A> G null D G 478 478 missense 0.812 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs755801474 11q13.2 11 66559262G> A null D N 478 478 missense 0.672 possibly damaging 0.3 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1470844170 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66559266A> G null Y C 479 479 missense 0.831 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368433069 11q13.2 11 66559272C> T null S L 481 481 3.99E-4 missense 0.087 benign 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1231415107 11q13.2 11 66559275C> A null A D 482 482 missense 0.668 possibly damaging 0.27 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1314624227 11q13.2 11 66559279G> C null L F 483 483 missense 0.0 benign 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1354573274 11q13.2 11 66559286G> A null E K 486 486 missense 0.927 probably damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1362084546 11q13.2 11 66559293G> A null R Q 488 488 missense 0.061 benign 0.31 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1401432854 11q13.2 11 66559292C> T null R W 488 488 missense 0.863 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1206102109 11q13.2 11 66559295G> A null A T 489 489 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs778191526 11q13.2 11 66559299T> C null L S 490 490 missense 0.937 probably damaging 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1452556707 11q13.2 11 66559305G> A null R Q 492 492 missense 0.041 benign 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs771111976 11q13.2 11 66559308G> A null R H 493 493 missense 0.386 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375293272 11q13.2 11 66559313G> T null E * 495 495 2.0E-4 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375293272 11q13.2 11 66559313G> A null E K 495 495 2.0E-4 missense 0.932 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375293272 11q13.2 11 66559313G> C null E Q 495 495 2.0E-4 missense 0.959 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs761796701 11q13.2 11 66559316G> A null A T 496 496 missense 0.971 probably damaging 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1429296282 11q13.2 11 66559317C> T null A V 496 496 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs767260874 11q13.2 11 66559325A> C null S R 499 499 missense 0.11 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1397310837 11q13.2 11 66559328G> A null D N 500 500 missense 0.979 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1397310837 11q13.2 11 66559328G> T null D Y 500 500 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1007462942 11q13.2 11 66559335C> A null A E 502 502 missense 0.988 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1007462942 11q13.2 11 66559335C> T null A V 502 502 missense 0.896 possibly damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1293466743 11q13.2 11 66559338C> T null A V 503 503 missense 0.896 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1215838008 11q13.2 11 66559340C> A null H N 504 504 missense 0.965 probably damaging 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1215838008 11q13.2 11 66559340C> T null H Y 504 504 missense 0.95 probably damaging 0.32 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs753414412 11q13.2 11 66559343C> G null Q E 505 505 missense 0.566 possibly damaging 0.36 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs754473781 11q13.2 11 66559349C> G null R G 507 507 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371839154 [NCI-TCGA]: Variant assessed as Somatic; impact. 11q13.2 11 66559350G> A null R H 507 507 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs377211880 11q13.2 11 66559352G> A null V M 508 508 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs747335900 11q13.2 11 66559355G> T null E * 509 509 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs554465054 11q13.2 11 66559357G> C null E D 509 509 2.0E-4 missense 0.751 possibly damaging 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs369800588 11q13.2 11 66559358C> A null H N 510 510 missense 0.003 benign 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs369800588 11q13.2 11 66559358C> T null H Y 510 510 missense 0.014 benign 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,gnomAD rs374547195 11q13.2 11 66559361A> T null I F 511 511 missense 0.291 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,gnomAD rs374547195 11q13.2 11 66559361A> G null I V 511 511 missense 0.0 benign 0.25 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1166102142 11q13.2 11 66559364G> A null A T 512 512 missense 0.938 probably damaging 0.11 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs369615114 11q13.2 11 66559367G> C null A P 513 513 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs369615114 11q13.2 11 66559367G> A null A T 513 513 missense 0.942 probably damaging 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,gnomAD rs773160523 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66559368C> T null A V 513 513 missense 0.896 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs766136532 11q13.2 11 66559371T> C null L P 514 514 missense 0.199 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs766136532 11q13.2 11 66559371T> G null L R 514 514 missense 0.144 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1415087932 11q13.2 11 66559383T> A null L H 518 518 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs753612745 11q13.2 11 66559382C> A null L I 518 518 missense 0.97 probably damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1332332091 11q13.2 11 66559386A> G null N S 519 519 missense 0.869 possibly damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1565308459 11q13.2 11 66559969G> A null E K 520 520 missense 0.927 probably damaging 0.3 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs756312504 11q13.2 11 66559975G> C null D H 522 522 missense 0.912 probably damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs756312504 11q13.2 11 66559975G> T null D Y 522 522 missense 0.958 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1032175015 11q13.2 11 66559983C> G null H Q 524 524 missense 0.152 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs749330175 11q13.2 11 66559985A> C null E A 525 525 missense 0.007 benign 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs749330175 11q13.2 11 66559985A> G null E G 525 525 missense 0.007 benign 0.11 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs780263796 11q13.2 11 66559984G> A null E K 525 525 missense 0.007 benign 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs988024128 11q13.2 11 66559990G> C null A P 527 527 missense 0.003 benign 0.48 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs988024128 11q13.2 11 66559990G> T null A S 527 527 missense 0.06 benign 0.7 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1439866160 11q13.2 11 66559994C> T null S L 528 528 missense 0.0 benign 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs755154040 11q13.2 11 66560003G> A null S N 531 531 missense 0.0 benign 0.21 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1455132344 11q13.2 11 66560005C> T null R C 532 532 missense 0.633 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1455132344 11q13.2 11 66560005C> G null R G 532 532 missense 0.132 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1194955396 11q13.2 11 66560006G> A null R H 532 532 missense 0.219 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1375368125 11q13.2 11 66560013G> C null Q H 534 534 missense 0.944 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs779124261 11q13.2 11 66560015C> G null A G 535 535 missense 0.001 benign 0.24 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs913811940 11q13.2 11 66560014G> C null A P 535 535 missense 0.282 benign 0.16 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1463839894 11q13.2 11 66560018T> C null I T 536 536 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1443095871 11q13.2 11 66560024A> G null D G 538 538 missense 0.105 benign 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1395107785 11q13.2 11 66560023G> C null D H 538 538 missense 0.809 possibly damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1395107785 11q13.2 11 66560023G> A null D N 538 538 missense 0.242 benign 0.22 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1270946764 11q13.2 11 66560031G> T null W C 540 540 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1232650547 11q13.2 11 66560030G> T null W L 540 540 missense 0.976 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs770961890 11q13.2 11 66560029T> C null W R 540 540 missense 0.993 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370953791 11q13.2 11 66560032G> A null D N 541 541 7.99E-4 missense 0.953 probably damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370953791 11q13.2 11 66560032G> T null D Y 541 541 7.99E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1217157092 11q13.2 11 66560036A> G null N S 542 542 missense 0.0 benign 0.86 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1469195414 11q13.2 11 66560038C> A null L M 543 543 missense 0.991 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1433482432 11q13.2 11 66560044A> T null T S 545 545 missense 0.009 benign 0.71 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1374415392 11q13.2 11 66560051C> T null T I 547 547 missense 0.952 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1476669912 11q13.2 11 66560053C> T null Q * 548 548 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1169687897 11q13.2 11 66560055G> C null Q H 548 548 missense 0.944 probably damaging 0.17 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1461126795 11q13.2 11 66560056A> G null K E 549 549 missense 0.039 benign 0.2 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs762496480 11q13.2 11 66560057A> C null K T 549 549 missense 0.2 benign 0.34 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs192533489 11q13.2 11 66560063G> A null R Q 551 551 2.0E-4 missense 0.041 benign 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1161342501 11q13.2 11 66560062C> T null R W 551 551 missense 0.804 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs567923786 11q13.2 11 66560069C> T null A V 553 553 2.0E-4 missense 0.082 benign 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs767962909 11q13.2 11 66560072T> C null L P 554 554 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368214398 11q13.2 11 66560172G> C null R P 556 556 3.99E-4 missense 0.985 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368214398 11q13.2 11 66560172G> A null R Q 556 556 3.99E-4 missense 0.884 possibly damaging 0.17 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs766817028 11q13.2 11 66560171C> T null R W 556 556 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1437873589 11q13.2 11 66560176G> A null M I 557 557 missense 0.003 benign 0.42 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs759869698 11q13.2 11 66560183C> T null L F 560 560 missense 0.5 possibly damaging 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC rs752842315 11q13.2 11 66560192A> G null T A 563 563 missense 0.751 possibly damaging 0.43 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs370933594 11q13.2 11 66560196T> C null I T 564 564 missense 0.977 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1301320899 11q13.2 11 66560195A> G null I V 564 564 missense 0.523 possibly damaging 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1671064 pubmed:10192379,pubmed:1339456,pubmed:15489334 11q13.2 11 66560202G> A null R Q 566 566 0.4135 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs767267555 11q13.2 11 66560201C> T null R W 566 566 missense 0.005 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs766602879 11q13.2 11 66560211T> G null L R 569 569 missense 0.978 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1436717485 11q13.2 11 66560213G> A null E K 570 570 missense 0.927 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs779925641 11q13.2 11 66560223G> T null R L 573 573 missense 0.099 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs779925641 11q13.2 11 66560223G> A null R Q 573 573 missense 0.043 benign 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1207519234 11q13.2 11 66560222C> T null R W 573 573 missense 0.733 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs368086463 11q13.2 11 66560226G> T null R L 574 574 missense 0.926 probably damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs368086463 11q13.2 11 66560226G> A null R Q 574 574 missense 0.884 possibly damaging 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs749033120 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66560225C> T null R W 574 574 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs372101780 11q13.2 11 66560232C> A null A E 576 576 missense 0.994 probably damaging 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs761285728 11q13.2 11 66560231G> C null A P 576 576 missense 0.995 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs761285728 11q13.2 11 66560231G> T null A S 576 576 missense 0.982 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs761285728 11q13.2 11 66560231G> A null A T 576 576 missense 0.973 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs372101780 11q13.2 11 66560232C> T null A V 576 576 missense 0.95 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs765564727 11q13.2 11 66560235C> T null P L 577 577 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC rs775923140 11q13.2 11 66560238T> C null F S 578 578 missense 0.988 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC rs775923140 11q13.2 11 66560238T> A null F Y 578 578 missense 0.945 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1462787404 11q13.2 11 66560241A> G null N S 579 579 missense 0.921 probably damaging 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs763243313 11q13.2 11 66560244A> G null N S 580 580 missense 0.04 benign 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs764271150 11q13.2 11 66560248G> A null W * 581 581 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1286734509 11q13.2 11 66560250T> A null L Q 582 582 missense 0.302 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1369041504 11q13.2 11 66560253A> C null D A 583 583 missense 0.271 benign 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184916656 11q13.2 11 66560256G> C null G A 584 584 2.0E-4 missense 0.46 possibly damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184916656 11q13.2 11 66560256G> A null G D 584 584 2.0E-4 missense 0.923 probably damaging 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs367692010 11q13.2 11 66560261G> A null V M 586 586 missense 0.01 benign 0.32 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs754832354 11q13.2 11 66560264G> A null E K 587 587 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1388413178 11q13.2 11 66560268A> T null D V 588 588 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1301928838 11q13.2 11 66560271T> C null L P 589 589 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs747848891 11q13.2 11 66560270C> G null L V 589 589 missense 0.921 probably damaging 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs372586045 11q13.2 11 66560278C> G null D E 591 591 missense 0.949 probably damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs982076978 11q13.2 11 66560280T> C null V A 592 592 missense 0.011 benign 0.13 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs563602101 11q13.2 11 66560279G> A null V M 592 592 0.001398 missense 0.001 benign 1.0 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs577316394 11q13.2 11 66560289T> G null V G 595 595 missense 0.983 probably damaging 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs746456021 11q13.2 11 66560292A> G null H R 596 596 missense 0.829 possibly damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs776939893 11q13.2 11 66560298T> C null V A 598 598 missense 0.06 benign 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs771486650 11q13.2 11 66560297G> T null V L 598 598 missense 0.015 benign 0.44 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1421849757 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66560300G> A null E K 599 599 missense 0.103 benign 0.11 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1186139856 11q13.2 11 66560309C> T null Q * 602 602 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,gnomAD rs376065059 11q13.2 11 66560573A> G null S G 603 603 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs772091427 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66560586C> T null A V 607 607 missense 0.896 possibly damaging 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs375580657 11q13.2 11 66560589A> G null H R 608 608 missense 0.95 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs752502827 11q13.2 11 66560591G> C null D H 609 609 missense 0.297 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs752502827 11q13.2 11 66560591G> A null D N 609 609 missense 0.026 benign 0.13 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs762591963 11q13.2 11 66560597T> C null F L 611 611 missense 0.815 possibly damaging 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1447041233 11q13.2 11 66560604C> A null A E 613 613 missense 0.075 benign 0.31 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1357153384 11q13.2 11 66560603G> A null A T 613 613 missense 0.104 benign 0.13 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1280039040 11q13.2 11 66560607C> T null T I 614 614 missense 0.978 probably damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs782441618 11q13.2 11 66560609C> G null L V 615 615 missense 0.869 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1242394384 11q13.2 11 66560612C> G null P A 616 616 missense 0.073 benign 0.11 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1242394384 11q13.2 11 66560612C> T null P S 616 616 missense 0.05 benign 0.17 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1219977687 11q13.2 11 66560616A> G null E G 617 617 missense 0.966 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs782134921 11q13.2 11 66560615G> A null E K 617 617 missense 0.932 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs782740078 11q13.2 11 66560621G> C null D H 619 619 missense 0.864 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1815739 [ClinVar]: ACTN3 deficiency, [ClinVar]: ACTININ, ALPHA-3 POLYMORPHISM pubmed:10192379,pubmed:10797427,pubmed:11440986,pubmed:12879365,pubmed:15886711,pubmed:17033684,pubmed:17627799,pubmed:17828264,pubmed:18043716 11q13.2 11 66560624C> T null R * 620 620 0.4008 stop gained 0 ACTININ, ALPHA-3 POLYMORPHISM ClinVar:RCV000019974 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1815739 [ClinVar]: ACTN3 deficiency, [ClinVar]: ACTININ, ALPHA-3 POLYMORPHISM pubmed:10192379,pubmed:10797427,pubmed:11440986,pubmed:12879365,pubmed:15886711,pubmed:17033684,pubmed:17627799,pubmed:17828264,pubmed:18043716 11q13.2 11 66560624C> T null R * 620 620 0.4008 stop gained 0 ACTN3 deficiency MIM:617749 ClinVar:RCV000019975 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs781859126 11q13.2 11 66560625G> T null R L 620 620 missense 0.773 possibly damaging 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs781859126 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66560625G> A null R Q 620 620 missense 0.773 possibly damaging 0.18 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1209905091 11q13.2 11 66560627G> A null E K 621 621 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1209905091 11q13.2 11 66560627G> C null E Q 621 621 missense 0.965 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs202032409 11q13.2 11 66560630C> T null R * 622 622 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs587683188 11q13.2 11 66560631G> A null R Q 622 622 2.0E-4 missense 0.006 benign 0.27 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1176224987 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66560634G> A null G D 623 623 missense 0.038 benign 0.3 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144238180 11q13.2 11 66560636G> A null A T 624 624 2.0E-4 missense 0.047 benign 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1173916674 11q13.2 11 66560644G> C null M I 626 626 missense 0.0 benign 0.7 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1042175804 11q13.2 11 66560642A> G null M V 626 626 missense 0.0 benign 0.53 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs768957946 11q13.2 11 66560651C> T null Q * 629 629 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs768957946 11q13.2 11 66560651C> A null Q K 629 629 missense 0.061 benign 0.49 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs772244128 11q13.2 11 66560671C> G null I M 635 635 missense 0.541 possibly damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed rs773302903 11q13.2 11 66560675C> T null Q * 637 637 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed rs773302903 11q13.2 11 66560675C> A null Q K 637 637 missense 0.661 possibly damaging 0.24 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377076795 11q13.2 11 66560679C> A null T K 638 638 7.99E-4 missense 0.952 probably damaging 0.56 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377076795 11q13.2 11 66560679C> T null T M 638 638 7.99E-4 missense 0.99 probably damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374176001 11q13.2 11 66560681T> C null Y H 639 639 2.0E-4 missense 0.985 probably damaging 0.38 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs577232517 11q13.2 11 66560691G> A null R Q 642 642 2.0E-4 missense 0.012 benign 0.24 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs761392416 11q13.2 11 66560690C> T null R W 642 642 missense 0.648 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs749953997 11q13.2 11 66560709C> G null P R 648 648 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs758311604 11q13.2 11 66560716C> G null I M 650 650 missense 0.138 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1482787217 11q13.2 11 66560723A> T null S C 653 653 missense 0.129 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs545999249 11q13.2 11 66560727C> T null P L 654 654 2.0E-4 missense 0.365 benign 0.25 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1425260953 11q13.2 11 66560734C> G null D E 656 656 missense 0.003 benign 0.66 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1565309196 11q13.2 11 66560736T> A null I N 657 657 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1165208376 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66560739A> G null N S 658 658 missense 0.0 benign 0.67 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1165208376 11q13.2 11 66560739A> C null N T 658 658 missense 0.0 benign 0.38 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1565309206 11q13.2 11 66560741A> G null T A 659 659 missense 0.0 benign 0.5 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1294737583 11q13.2 11 66560744A> T null K * 660 660 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs755478725 11q13.2 11 66560751A> G null D G 662 662 missense 0.031 benign 0.24 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs572962479 11q13.2 11 66560750G> A null D N 662 662 2.0E-4 missense 0.01 benign 0.56 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1005453249 11q13.2 11 66560754T> C null M T 663 663 missense 0.0 benign 0.5 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1451634741 11q13.2 11 66560753A> G null M V 663 663 missense 0.003 benign 0.27 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1459438003 11q13.2 11 66561228T> C null V A 664 664 missense 0.19 benign 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1368969405 11q13.2 11 66561227G> T null V F 664 664 missense 0.363 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1368969405 11q13.2 11 66561227G> A null V I 664 664 missense 0.001 benign 0.15 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs200463643 11q13.2 11 66561230C> T null R * 665 665 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs766026099 11q13.2 11 66561231G> A null R Q 665 665 missense 0.042 benign 0.99 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1231202783 11q13.2 11 66561235G> C null K N 666 666 missense 0.027 benign 0.3 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs111569964 11q13.2 11 66561239G> A null V M 668 668 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1009421861 11q13.2 11 66561243C> T null P L 669 669 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1482498988 11q13.2 11 66561245A> G null S G 670 670 missense 0.031 benign 0.13 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs618838 pubmed:1339456,pubmed:15489334 11q13.2 11 66561248T> C null C R 671 671 0.3998 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs867857611 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66561249G> A null C Y 671 671 missense 0.0 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2229456 11q13.2 11 66561270A> C null E A 678 678 0.1627 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs755463676 11q13.2 11 66561269G> A null E K 678 678 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2229456 11q13.2 11 66561270A> T null E V 678 678 0.1627 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1354994179 11q13.2 11 66561276C> G null A G 680 680 missense 0.005 benign 0.31 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs537021714 11q13.2 11 66561278C> G null R G 681 681 2.0E-4 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs747282897 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66561279G> A null R Q 681 681 missense 0.884 possibly damaging 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs537021714 11q13.2 11 66561278C> T null R W 681 681 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1215617079 11q13.2 11 66561283G> C null Q H 682 682 missense 0.985 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs757442638 11q13.2 11 66561285A> T null Q L 683 683 missense 0.046 benign 0.16 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs557418428 11q13.2 11 66561293G> A null E K 686 686 2.0E-4 missense 0.932 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs565643850 11q13.2 11 66561303G> A null R Q 689 689 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs200416232 11q13.2 11 66561302C> T null R W 689 689 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs772039426 11q13.2 11 66561305C> T null R * 690 690 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1054840351 11q13.2 11 66561306G> A null R Q 690 690 missense 0.884 possibly damaging 0.25 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1403301126 11q13.2 11 66561308C> T null Q * 691 691 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs773109570 11q13.2 11 66561312T> C null F S 692 692 missense 0.988 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs760434035 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66561315C> T null A V 693 693 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1209815645 11q13.2 11 66561323G> A null A T 696 696 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs759021190 11q13.2 11 66561333T> C null I T 699 699 missense 0.06 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201682133 11q13.2 11 66561332A> G null I V 699 699 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs897083627 11q13.2 11 66561335G> C null G R 700 700 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs539782432 11q13.2 11 66561349G> C null Q H 704 704 2.0E-4 missense 0.944 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs368454306 11q13.2 11 66561351C> T null A V 705 705 missense 0.007 benign 0.24 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs751921813 11q13.2 11 66561462T> C null V A 710 710 missense 0.06 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1026499015 11q13.2 11 66561467C> G null R G 712 712 missense 0.12 benign 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs377612653 11q13.2 11 66561468G> A null R Q 712 712 missense 0.04 benign 0.22 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1026499015 11q13.2 11 66561467C> T null R W 712 712 missense 0.559 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1229001563 11q13.2 11 66561471T> C null L P 713 713 missense 0.367 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1369108651 11q13.2 11 66561474C> A null A E 714 714 missense 0.06 benign 0.2 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC rs767757534 11q13.2 11 66561473G> C null A P 714 714 missense 0.208 benign 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1384659969 11q13.2 11 66561480G> A null G E 716 716 missense 0.001 benign 0.89 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1282267449 11q13.2 11 66561483T> C null L P 717 717 missense 0.174 benign 0.18 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1340855547 11q13.2 11 66561485G> A null A T 718 718 missense 0.025 benign 0.65 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs750705073 11q13.2 11 66561492C> T null S F 720 720 missense 0.086 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1268136969 11q13.2 11 66561497G> A null E K 722 722 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1203903276 11q13.2 11 66561500G> A null E K 723 723 missense 0.051 benign 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs753918867 11q13.2 11 66561508G> A null M I 725 725 missense 0.015 benign 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1489511716 11q13.2 11 66561506A> G null M V 725 725 missense 0.015 benign 0.16 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs758425045 11q13.2 11 66561509G> C null A P 726 726 missense 0.075 benign 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1011099326 11q13.2 11 66561513G> A null G E 727 727 missense 0.027 benign 0.92 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs777786517 11q13.2 11 66561512G> A null G R 727 727 missense 0.04 benign 0.61 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs375257311 11q13.2 11 66561519G> C null R P 729 729 missense 0.501 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs375257311 11q13.2 11 66561519G> A null R Q 729 729 missense 0.042 benign 0.34 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs371081325 11q13.2 11 66561518C> T null R W 729 729 missense 0.81 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1190271569 11q13.2 11 66561524C> T null Q * 731 731 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1351068216 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66561529G> T null E D 732 732 missense 0.751 possibly damaging 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1169809511 11q13.2 11 66561530C> A null Q K 733 733 missense 0.0 benign 0.28 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs745576296 11q13.2 11 66561531A> G null Q R 733 733 missense 0.058 benign 0.18 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs769295218 11q13.2 11 66561535C> G null N K 734 734 missense 0.225 benign 0.24 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs775007171 11q13.2 11 66561536A> G null I V 735 735 missense 0.523 possibly damaging 0.4 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs966975541 11q13.2 11 66561543A> G null N S 737 737 missense 0.0 benign 0.25 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC rs762379295 11q13.2 11 66561545T> A null Y N 738 738 missense 0.993 probably damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370343189 11q13.2 11 66561558T> A null I N 742 742 5.99E-4 missense 0.466 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370343189 11q13.2 11 66561558T> C null I T 742 742 5.99E-4 missense 0.06 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs750713688 11q13.2 11 66561560G> C null D H 743 743 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs766651751 11q13.2 11 66561564G> A null R Q 744 744 missense 0.0 benign 0.37 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs760973896 11q13.2 11 66561563C> T null R W 744 744 missense 0.335 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200244682 11q13.2 11 66561567T> C null L P 745 745 3.99E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1485759820 11q13.2 11 66561570A> G null E G 746 746 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs773565355 11q13.2 11 66561572G> T null G C 747 747 missense 0.874 possibly damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs773565355 11q13.2 11 66561572G> A null G S 747 747 missense 0.031 benign 0.28 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1162443851 11q13.2 11 66561575G> C null D H 748 748 missense 0.864 possibly damaging 0.59 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs779124245 11q13.2 11 66561580C> A null H Q 749 749 missense 0.173 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1273910998 11q13.2 11 66561578C> T null H Y 749 749 missense 0.0 benign 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs757113506 11q13.2 11 66561593G> A null E K 754 754 missense 0.103 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs747575601 11q13.2 11 66561596A> T null S C 755 755 missense 0.326 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs747575601 11q13.2 11 66561596A> G null S G 755 755 missense 0.0 benign 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1243854658 11q13.2 11 66561600T> C null L P 756 756 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1353334494 11q13.2 11 66561602G> A null V M 757 757 missense 0.404 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs745604299 11q13.2 11 66561607C> G null F L 758 758 missense 0.815 possibly damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,NCI-TCGA,gnomAD rs191891560 [NCI-TCGA]: Variant assessed as Somatic; impact. 11q13.2 11 66561608G> A null D N 759 759 2.0E-4 missense 0.956 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs191891560 11q13.2 11 66561608G> T null D Y 759 759 2.0E-4 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs748922825 11q13.2 11 66561611A> G null N D 760 760 missense 0.948 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1415439771 11q13.2 11 66561615A> G null K R 761 761 missense 0.892 possibly damaging 0.33 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs768200266 11q13.2 11 66561617C> G null H D 762 762 missense 0.916 probably damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs768200266 11q13.2 11 66561617C> T null H Y 762 762 missense 0.831 possibly damaging 0.43 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs773818534 11q13.2 11 66561620A> G null T A 763 763 missense 0.921 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs557548998 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66561623G> A null V I 764 764 3.99E-4 missense 0.054 benign 0.11 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs528641441 11q13.2 11 66561627A> G null Y C 765 765 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC rs765511698 11q13.2 11 66562026T> G null I S 770 770 missense 0.881 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs372825946 11q13.2 11 66562028C> T null R C 771 771 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs577173358 11q13.2 11 66562029G> A null R H 771 771 3.99E-4 missense 0.982 probably damaging 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs750373831 11q13.2 11 66562031G> C null V L 772 772 missense 0.062 benign 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs750373831 11q13.2 11 66562031G> A null V M 772 772 missense 0.1 benign 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1223319861 11q13.2 11 66562035G> C null G A 773 773 missense 0.987 probably damaging 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs766191696 11q13.2 11 66562040G> C null E Q 775 775 missense 0.965 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP rs369826688 11q13.2 11 66562044A> T null Q L 776 776 missense 0.761 possibly damaging 0.18 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1426664824 11q13.2 11 66562052A> G null T A 779 779 missense 0.869 possibly damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1451688813 11q13.2 11 66562058A> G null I V 781 781 missense 0.523 possibly damaging 0.21 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs753579084 11q13.2 11 66562064C> T null R C 783 783 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs753579084 11q13.2 11 66562064C> G null R G 783 783 missense 0.965 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs372171270 11q13.2 11 66562065G> A null R H 783 783 missense 0.961 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs753579084 11q13.2 11 66562064C> A null R S 783 783 missense 0.965 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs757904238 11q13.2 11 66562067A> G null T A 784 784 missense 0.869 possibly damaging 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs777316808 11q13.2 11 66562070A> C null I L 785 785 missense 0.63 possibly damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs777316808 11q13.2 11 66562070A> G null I V 785 785 missense 0.383 benign 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs747560527 11q13.2 11 66562073A> G null N D 786 786 missense 0.97 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs771526492 11q13.2 11 66562074A> G null N S 786 786 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs371778972 11q13.2 11 66562078A> C null E D 787 787 3.99E-4 missense 0.751 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs781709791 11q13.2 11 66562076G> C null E Q 787 787 missense 0.926 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1305151578 11q13.2 11 66562082G> A null E K 789 789 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs770148768 11q13.2 11 66562088C> G null Q E 791 791 missense 0.566 possibly damaging 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1250493543 11q13.2 11 66562092T> A null V E 792 792 missense 0.267 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs556278635 11q13.2 11 66562097A> T null T S 794 794 missense 0.751 possibly damaging 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs763208690 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q13.2 11 66562100C> T null R * 795 795 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs768655417 11q13.2 11 66562101G> A null R Q 795 795 missense 0.884 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs774446289 11q13.2 11 66562103G> A null D N 796 796 missense 0.978 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs574848604 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66562106G> A null A T 797 797 missense 0.122 benign 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs753634259 11q13.2 11 66562120C> A null S R 801 801 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC rs149868156 11q13.2 11 66562124G> C null E Q 803 803 2.0E-4 missense 0.926 probably damaging 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1490104628 [NCI-TCGA]: Variant assessed as Somatic; impact. 11q13.2 11 66562127C> A null Q K 804 804 missense 0.661 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1229140121 11q13.2 11 66562128A> G null Q R 804 804 missense 0.831 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs765069124 11q13.2 11 66562131T> C null L P 805 805 missense 0.776 possibly damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs377029613 11q13.2 11 66562135C> A null N K 806 806 missense 0.673 possibly damaging 0.14 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs752342471 11q13.2 11 66562134A> G null N S 806 806 missense 0.125 benign 0.15 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1369024192 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66562136G> A null E K 807 807 missense 0.932 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs751068262 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q13.2 11 66562142C> T null R * 809 809 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs971298502 11q13.2 11 66562143G> T null R L 809 809 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs971298502 11q13.2 11 66562143G> A null R Q 809 809 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1165609853 11q13.2 11 66562146C> T null A V 810 810 missense 0.947 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs757856453 11q13.2 11 66562154A> G null N D 813 813 missense 0.035 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs781739445 11q13.2 11 66562155A> G null N S 813 813 missense 0.269 benign 0.16 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs746360442 11q13.2 11 66562159C> G null H Q 814 814 missense 0.421 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1303282460 11q13.2 11 66562161T> C null F S 815 815 missense 0.776 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs770102360 11q13.2 11 66562165C> A null D E 816 816 missense 0.57 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1469091132 11q13.2 11 66562163G> A null D N 816 816 missense 0.856 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs780433242 11q13.2 11 66562166A> G null R G 817 817 missense 0.2 benign 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs749500787 11q13.2 11 66562167G> A null R K 817 817 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1229200641 11q13.2 11 66562260C> T null Q * 819 819 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs540874 pubmed:1339456,pubmed:15489334 11q13.2 11 66562261A> G null Q R 819 819 0.4169 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1349610642 11q13.2 11 66562267G> C null G A 821 821 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs907846090 11q13.2 11 66562266G> A null G R 821 821 missense 1.0 probably damaging 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1043778773 11q13.2 11 66562272A> G null M V 823 823 missense 0.013 benign 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs564580183 11q13.2 11 66562276A> C null E A 824 824 2.0E-4 missense 0.017 benign 0.15 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1380258387 11q13.2 11 66562277G> C null E D 824 824 missense 0.0 benign 0.88 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes rs551047804 11q13.2 11 66562275G> C null E Q 824 824 2.0E-4 missense 0.075 benign 0.17 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs564580183 11q13.2 11 66562276A> T null E V 824 824 2.0E-4 missense 0.101 benign 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs779172352 11q13.2 11 66562281G> T null D Y 826 826 missense 0.873 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs200377702 11q13.2 11 66562288T> A null F Y 828 828 missense 0.945 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs772189137 11q13.2 11 66562290C> T null R * 829 829 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs114618009 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66562291G> A null R Q 829 829 0.008986 missense 0.041 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs745825189 11q13.2 11 66562293G> C null A P 830 830 missense 0.576 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs745825189 11q13.2 11 66562293G> A null A T 830 830 missense 0.007 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1012444011 11q13.2 11 66562299C> G null L V 832 832 missense 0.869 possibly damaging 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs750281694 11q13.2 11 66562303T> C null I T 833 833 missense 0.916 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs374770413 11q13.2 11 66562312G> T null G V 836 836 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1040609893 11q13.2 11 66562319C> G null D E 838 838 missense 0.188 benign 0.21 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs775163785 11q13.2 11 66562317G> C null D H 838 838 missense 0.625 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs775163785 11q13.2 11 66562317G> A null D N 838 838 missense 0.007 benign 0.48 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1478395517 11q13.2 11 66562796G> A null G R 840 840 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs754295353 11q13.2 11 66562801A> T null E D 841 841 missense 0.751 possibly damaging 0.8 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs977404220 11q13.2 11 66562807G> C null E D 843 843 missense 0.751 possibly damaging 0.39 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs1126675 11q13.2 11 66562805G> A null E K 843 843 missense 0.927 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs779227516 11q13.2 11 66562808T> C null F L 844 844 missense 0.907 possibly damaging 0.17 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs187702310 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66562814C> T null R C 846 846 3.99E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs758580966 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66562815G> A null R H 846 846 missense 0.961 probably damaging 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1340913656 11q13.2 11 66562817A> C null I L 847 847 missense 0.63 possibly damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1340913656 11q13.2 11 66562817A> G null I V 847 847 missense 0.383 benign 0.2 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs553762010 11q13.2 11 66562820A> G null M V 848 848 2.0E-4 missense 0.251 benign 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1293390581 11q13.2 11 66562827T> C null M T 850 850 missense 0.007 benign 0.26 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1301870596 11q13.2 11 66562835C> G null P A 853 853 missense 0.001 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs775568184 11q13.2 11 66562836C> G null P R 853 853 missense 0.626 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs200846952 11q13.2 11 66562839A> G null N S 854 854 missense 0.921 probably damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs367715133 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66562841G> A null A T 855 855 2.0E-4 missense 0.029 benign 0.11 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1488833955 11q13.2 11 66562844G> T null A S 856 856 missense 0.001 benign 0.91 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs771790025 11q13.2 11 66562848G> A null G E 857 857 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs772599550 11q13.2 11 66562853G> A null V M 859 859 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs765793611 11q13.2 11 66562856A> G null T A 860 860 missense 0.859 possibly damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs754417486 11q13.2 11 66562857C> T null T I 860 860 missense 0.989 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs754417486 11q13.2 11 66562857C> A null T N 860 860 missense 0.973 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs765622658 11q13.2 11 66562859T> C null F L 861 861 missense 0.899 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs765622658 11q13.2 11 66562859T> G null F V 861 861 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs574813729 11q13.2 11 66562865G> A null A T 863 863 missense 0.188 benign 0.07 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs371294094 11q13.2 11 66562870C> G null F L 864 864 missense 0.899 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs777908082 11q13.2 11 66562873A> G null I M 865 865 missense 0.977 probably damaging 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1285706604 11q13.2 11 66562875A> C null D A 866 866 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1356830994 11q13.2 11 66562882G> A null M I 868 868 missense 0.006 benign 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs757419685 11q13.2 11 66562886C> T null R * 870 870 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs796903074 11q13.2 11 66562887G> C null R P 870 870 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs796903074 11q13.2 11 66562887G> A null R Q 870 870 missense 0.884 possibly damaging 0.09 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs781097155 11q13.2 11 66562889G> A null E K 871 871 missense 0.927 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs778858494 11q13.2 11 66562896C> G null A G 873 873 missense 0.086 benign 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs374262572 11q13.2 11 66562895G> A null A T 873 873 missense 0.007 benign 0.77 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs771981846 11q13.2 11 66562898G> A null E K 874 874 missense 0.164 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs772985621 11q13.2 11 66562905A> G null D G 876 876 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192669291 11q13.2 11 66562908C> T null T M 877 877 7.99E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs775954878 11q13.2 11 66562910A> G null T A 878 878 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs760065166 11q13.2 11 66562920T> C null V A 881 881 missense 0.925 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1402224253 11q13.2 11 66562919G> C null V L 881 881 missense 0.534 possibly damaging 0.19 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1047345540 11q13.2 11 66562923T> C null V A 882 882 missense 0.009 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1047345540 11q13.2 11 66562923T> G null V G 882 882 missense 0.043 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1354852586 11q13.2 11 66562925G> C null A P 883 883 missense 0.979 probably damaging 0.11 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs763363046 11q13.2 11 66562939C> G null I M 887 887 missense 0.918 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs751842772 11q13.2 11 66562944C> T null A V 889 889 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1224564830 11q13.2 11 66563036A> G null N S 893 893 missense 0.0 benign 0.21 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1285741744 11q13.2 11 66563041A> C null I L 895 895 missense 0.75 possibly damaging 0.06 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs762102870 11q13.2 11 66563042T> A null I N 895 895 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs762102870 11q13.2 11 66563042T> C null I T 895 895 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs1285741744 11q13.2 11 66563041A> G null I V 895 895 missense 0.523 possibly damaging 0.12 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs767579893 11q13.2 11 66563048C> T null P L 897 897 missense 0.0 benign 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199599736 11q13.2 11 66563050G> A null E K 898 898 2.0E-4 missense 0.086 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199599736 11q13.2 11 66563050G> C null E Q 898 898 2.0E-4 missense 0.326 benign 0.08 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116281147 11q13.2 11 66563053G> T null E * 899 899 0.009385 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115296201 11q13.2 11 66563054A> C null E A 899 899 0.009385 missense 0.949 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs386754438 11q13.2 11 66563053_66563054delinsT T null E L 899 899 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115296201 11q13.2 11 66563054A> T null E V 899 899 0.009385 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs551188851 11q13.2 11 66563060G> C null R P 901 901 2.0E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs551188851 11q13.2 11 66563060G> A null R Q 901 901 2.0E-4 missense 0.944 probably damaging 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs374545131 11q13.2 11 66563059C> T null R W 901 901 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs71457732 11q13.2 11 66563062C> T null R C 902 902 0.004393 missense 0.511 possibly damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs369814936 11q13.2 11 66563063G> A null R H 902 902 missense 0.145 benign 0.05 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs71457732 11q13.2 11 66563062C> A null R S 902 902 0.004393 missense 0.061 benign 0.1 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1411764603 11q13.2 11 66563067G> C null E D 903 903 missense 0.751 possibly damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs372843748 11q13.2 11 66563065G> A null E K 903 903 missense 0.932 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs774954189 11q13.2 11 66563071C> G null P A 905 905 missense 0.881 possibly damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs749829838 11q13.2 11 66563075C> A null A D 906 906 missense 0.023 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs749829838 11q13.2 11 66563075C> G null A G 906 906 missense 0.011 benign 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,TOPMed rs377252716 11q13.2 11 66563078A> G null K R 907 907 missense 0.005 benign 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 Ensembl rs908813230 11q13.2 11 66563080C> T null Q * 908 908 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1305273898 11q13.2 11 66563081A> G null Q R 908 908 missense 0.831 possibly damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1336338807 11q13.2 11 66563083G> A null A T 909 909 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed,gnomAD rs920969631 11q13.2 11 66563087A> C null E A 910 910 missense 0.949 probably damaging 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs553485895 11q13.2 11 66563086G> A null E K 910 910 2.0E-4 missense 0.932 probably damaging 0.01 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs773610480 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66563089T> C null Y H 911 911 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,TOPMed,gnomAD rs370147618 11q13.2 11 66563092T> G null C G 912 912 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,TOPMed,gnomAD rs370147618 11q13.2 11 66563092T> C null C R 912 912 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1250236083 11q13.2 11 66563096T> A null I N 913 913 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs188208827 11q13.2 11 66563098C> T null R C 914 914 2.0E-4 missense 0.0 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs375737030 11q13.2 11 66563099G> A null R H 914 914 missense 0.0 benign 0.05 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs753928982 11q13.2 11 66563101C> T null R C 915 915 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs753928982 11q13.2 11 66563101C> G null R G 915 915 missense 0.752 possibly damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs535878047 11q13.2 11 66563102G> A null R H 915 915 2.0E-4 missense 0.027 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs535878047 11q13.2 11 66563102G> C null R P 915 915 2.0E-4 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs763878511 11q13.2 11 66563107G> C null V L 917 917 missense 0.001 benign 0.11 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,gnomAD rs555990769 11q13.2 11 66563110C> A null P T 918 918 2.0E-4 missense 0.0 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374550441 11q13.2 11 66563125G> C null G R 923 923 2.0E-4 missense 0.389 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374550441 11q13.2 11 66563125G> A null G R 923 923 2.0E-4 missense 0.389 benign 0.04 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs193169026 11q13.2 11 66563128G> T null A S 924 924 0.001997 missense 0.003 benign 0.16 tolerated - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs779547906 11q13.2 11 66563129C> T null A V 924 924 missense 0.045 benign 0.01 deleterious - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,NCI-TCGA,TOPMed,gnomAD rs748740930 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66563132C> T null P L 925 925 missense 0.015 benign 0.38 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs748658589 11q13.2 11 66563134G> A null A T 926 926 missense 0.0 benign 0.03 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1315550275 11q13.2 11 66563138G> A null G E 927 927 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs371342586 11q13.2 11 66563141C> T null A V 928 928 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs79516407 11q13.2 11 66563151C> G null Y * 931 931 0.001398 stop gained 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 gnomAD rs1359559734 11q13.2 11 66563153T> C null V A 932 932 missense 0.025 benign 0.73 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,TOPMed,gnomAD rs540771729 11q13.2 11 66563152G> C null V L 932 932 2.0E-4 missense 0.006 benign 0.28 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs540771729 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.2 11 66563152G> A null V M 932 932 2.0E-4 missense 0.006 benign 0.47 tolerated 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs776862660 11q13.2 11 66563162C> A null S Y 935 935 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs201576110 11q13.2 11 66563170C> T null L F 938 938 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1287647515 11q13.2 11 66563171T> C null L P 938 938 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 TOPMed rs1287647515 11q13.2 11 66563171T> G null L R 938 938 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,gnomAD rs765353192 11q13.2 11 66563174A> G null Y C 939 939 missense 0.992 probably damaging 0.02 deleterious 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ExAC,TOPMed,gnomAD rs751488881 11q13.2 11 66563185G> A null D N 943 943 missense 0.243 benign 0.03 deleterious - low confidence 0 A0A087WSZ2 ACTN3 Alpha-actinin-3 ESP,ExAC,TOPMed,gnomAD rs368116977 11q13.2 11 66563188C> T null L F 944 944 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145684750 14q11.2 14 23995032G> C null A P 2 2 5.99E-4 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145684750 14q11.2 14 23995032G> T null A S 2 2 5.99E-4 missense 0.822 possibly damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145684750 14q11.2 14 23995032G> A null A T 2 2 5.99E-4 missense 0.37 benign 0.07 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1438611834 14q11.2 14 23995036T> C null V A 3 3 missense 0.074 benign 0.09 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs377406721 14q11.2 14 23995035G> A null V M 3 3 missense 0.139 benign 0.07 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs988891480 14q11.2 14 23995041C> T null L F 5 5 missense 0.281 benign 0.7 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs988891480 14q11.2 14 23995041C> A null L I 5 5 missense 0.145 benign 0.4 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs988891480 14q11.2 14 23995041C> G null L V 5 5 missense 0.039 benign 0.52 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1161027311 14q11.2 14 23995044C> G null H D 6 6 missense 0.739 possibly damaging 0.16 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs755840982 14q11.2 14 23995046T> G null H Q 6 6 missense 0.71 possibly damaging 0.23 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148508271 14q11.2 14 23995048G> A null G E 7 7 0.01537 missense 0.745 possibly damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs748800221 14q11.2 14 23995051G> C null G A 8 8 missense 0.29 benign 0.08 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs748800221 14q11.2 14 23995051G> A null G D 8 8 missense 0.918 probably damaging 0.04 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs748800221 14q11.2 14 23995051G> T null G V 8 8 missense 0.938 probably damaging 0.03 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370782611 14q11.2 14 23995055C> G null I M 9 9 2.0E-4 missense 0.683 possibly damaging 0.04 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs1329992259 14q11.2 14 23995057A> G null D G 10 10 missense 0.926 probably damaging 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs146629945 14q11.2 14 23995056G> A null D N 10 10 missense 0.911 probably damaging 0.05 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs772289901 14q11.2 14 23995065G> C null V L 13 13 missense 0.594 possibly damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs775968672 14q11.2 14 23995069C> G null S C 14 14 missense 0.067 benign 0.49 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs113886442 14q11.2 14 23995073T> A null N K 15 15 missense 0.916 probably damaging 0.01 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,gnomAD rs557070353 14q11.2 14 23995074G> T null A S 16 16 0.001597 missense 0.742 possibly damaging 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,gnomAD rs557070353 14q11.2 14 23995074G> A null A T 16 16 0.001597 missense 0.798 possibly damaging 0.01 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs762000184 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 14q11.2 14 23995075C> T null A V 16 16 missense 0.964 probably damaging 0.01 deleterious 1 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs766372896 14q11.2 14 23995077G> A null A T 17 17 missense 0.923 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs774462921 14q11.2 14 23995081T> A null V D 18 18 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1241265726 14q11.2 14 23995080G> A null V I 18 18 missense 0.91 probably damaging 0.05 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,TOPMed,gnomAD rs189352232 14q11.2 14 23995085C> A null N K 19 19 7.99E-4 missense 0.705 possibly damaging 0.01 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs759560964 14q11.2 14 23995084A> G null N S 19 19 missense 0.103 benign 0.08 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs141465413 14q11.2 14 23995099G> A null S N 24 24 missense 0.003 benign 0.48 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,TOPMed,gnomAD rs61999853 14q11.2 14 23995101C> A null L I 25 25 missense 0.02 benign 1.0 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 Ensembl rs1566497620 14q11.2 14 23995107G> T null D Y 27 27 missense 0.935 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149046158 14q11.2 14 23995116G> A null E K 30 30 2.0E-4 missense 0.129 benign 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149046158 14q11.2 14 23995116G> C null E Q 30 30 2.0E-4 missense 0.349 benign 0.01 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1455132886 14q11.2 14 23995121G> C null E D 31 31 missense 0.007 benign 0.23 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,TOPMed,gnomAD rs151008126 14q11.2 14 23995127G> T null W C 33 33 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,TOPMed,gnomAD rs151008126 14q11.2 14 23995127G> C null W C 33 33 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1051537255 14q11.2 14 23995125T> C null W R 33 33 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs143083153 14q11.2 14 23995128G> A null D N 34 34 missense 0.243 benign 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs143083153 14q11.2 14 23995128G> T null D Y 34 34 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,TOPMed,gnomAD rs541400844 14q11.2 14 23995132A> G null K R 35 35 2.0E-4 missense 0.305 benign 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs369323650 14q11.2 14 24000864C> T null T I 36 36 missense 0.003 benign 1.0 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1396438869 14q11.2 14 24000871C> A null D E 38 38 missense 0.07 benign 0.26 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1376255721 14q11.2 14 24000869G> C null D H 38 38 missense 0.15 benign 0.05 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1382860479 14q11.2 14 24000874T> G null I M 39 39 missense 0.958 probably damaging 0.01 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1335883750 14q11.2 14 24000873T> C null I T 39 39 missense 0.938 probably damaging 0.04 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs375966037 14q11.2 14 24000879T> G null V G 41 41 missense 0.591 possibly damaging 0.03 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs371326305 14q11.2 14 24000878G> C null V L 41 41 missense 0.082 benign 0.09 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1237321013 14q11.2 14 24000887C> T null P S 44 44 missense 0.125 benign 0.41 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs771010677 14q11.2 14 24000894T> A null L Q 46 46 missense 0.984 probably damaging 0.03 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs768644359 14q11.2 14 24000898G> A null M I 47 47 missense 0.014 benign 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,TOPMed,gnomAD rs537286969 14q11.2 14 24000897T> A null M K 47 47 2.0E-4 missense 0.958 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,TOPMed,gnomAD rs537286969 14q11.2 14 24000897T> C null M T 47 47 2.0E-4 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs1330704780 14q11.2 14 24000899A> G null T A 48 48 missense 0.036 benign 0.67 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs776337533 14q11.2 14 24000900C> T null T I 48 48 missense 0.251 benign 0.57 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs776337533 14q11.2 14 24000900C> G null T R 48 48 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs369877396 14q11.2 14 24000904G> T null K N 49 49 missense 0.155 benign 0.08 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs772953007 14q11.2 14 24000905G> T null A S 50 50 missense 0.088 benign 0.32 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1158097383 14q11.2 14 24000909T> C null V A 51 51 missense 0.308 benign 0.48 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1437943659 14q11.2 14 24000908G> C null V L 51 51 missense 0.037 benign 0.55 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1437943659 14q11.2 14 24000908G> A null V M 51 51 missense 0.972 probably damaging 0.03 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,gnomAD rs557269720 14q11.2 14 24000921T> C null M T 55 55 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1467737700 14q11.2 14 24000923G> C null E Q 56 56 missense 0.131 benign 0.08 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1811890 14q11.2 14 24000929C> T null R * 58 58 0.1288 stop gained 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1811890 14q11.2 14 24000929C> G null R G 58 58 0.1288 missense 0.992 probably damaging 0.03 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372826656 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 14q11.2 14 24000930G> A null R Q 58 58 missense 0.985 probably damaging 0.03 deleterious 1 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs372329309 14q11.2 14 24001034G> C null G R 60 60 missense 0.658 possibly damaging 0.11 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs372329309 14q11.2 14 24001034G> A null G S 60 60 missense 0.594 possibly damaging 0.12 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,TOPMed,gnomAD rs369752605 14q11.2 14 24001037G> A null G S 61 61 2.0E-4 missense 0.967 probably damaging 0.13 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1218406543 14q11.2 14 24001049A> C null I L 65 65 missense 0.006 benign 1.0 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1314118147 14q11.2 14 24001050T> G null I S 65 65 missense 0.887 possibly damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs763214664 14q11.2 14 24001053T> G null V G 66 66 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs146938082 14q11.2 14 24001052G> C null V L 66 66 missense 0.308 benign 0.03 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs146938082 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 24001052G> A null V M 66 66 missense 0.985 probably damaging 0.01 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1488744981 14q11.2 14 24001058T> A null S T 68 68 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs756015179 14q11.2 14 24001063A> G null I M 69 69 missense 0.268 benign 0.04 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs751705039 14q11.2 14 24001061A> G null I V 69 69 missense 0.007 benign 0.57 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs777587037 14q11.2 14 24001064G> A null A T 70 70 missense 0.105 benign 0.08 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,gnomAD rs571346834 14q11.2 14 24001065C> T null A V 70 70 2.0E-4 missense 0.08 benign 0.07 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1425441611 14q11.2 14 24001067G> A null A T 71 71 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,gnomAD rs138190990 14q11.2 14 24001068C> T null A V 71 71 missense 0.979 probably damaging 0.04 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1346324277 14q11.2 14 24001070T> C null F L 72 72 missense 0.076 benign 0.03 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1367321037 14q11.2 14 24001074G> A null S N 73 73 missense 0.0 benign 0.43 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,TOPMed,gnomAD rs367972568 14q11.2 14 24001076C> A null P T 74 74 missense 0.871 possibly damaging 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1358202038 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 14q11.2 14 24001080C> G null S C 75 75 missense 0.144 benign 0.08 tolerated 1 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1299726460 14q11.2 14 24001079T> A null S T 75 75 missense 0.003 benign 0.2 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs372253775 14q11.2 14 24001083C> T null P L 76 76 missense 0.033 benign 0.08 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs748593900 14q11.2 14 24001385G> C null G A 77 77 missense 0.025 benign 1.0 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs749669008 14q11.2 14 24001388T> G null F C 78 78 missense 0.886 possibly damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1196149311 14q11.2 14 24001391G> A null S N 79 79 missense 0.057 benign 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,NCI-TCGA,gnomAD rs551390746 NCI-TCGA Cosmic [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 14q11.2 14 24001393C> T null P S 80 80 2.0E-4 missense 0.326 benign 0.07 tolerated 1 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,gnomAD rs551390746 14q11.2 14 24001393C> A null P T 80 80 2.0E-4 missense 0.763 possibly damaging 0.16 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1267310564 14q11.2 14 24001399A> G null N D 82 82 missense 0.699 possibly damaging 0.01 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1267310564 14q11.2 14 24001399A> C null N H 82 82 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs774404113 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 14q11.2 14 24001402G> A null V I 83 83 missense 0.321 benign 0.2 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1266693873 14q11.2 14 24001405A> T null S C 84 84 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1479886253 14q11.2 14 24001406G> C null S T 84 84 missense 0.973 probably damaging 0.03 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs1051972443 14q11.2 14 24001409A> C null K T 85 85 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 Ensembl rs1025710566 14q11.2 14 24001414G> T null A S 87 87 missense 0.975 probably damaging 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs759849030 14q11.2 14 24001419G> C null L F 88 88 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1257773177 14q11.2 14 24001418T> G null L W 88 88 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs767481626 14q11.2 14 24001421T> C null L P 89 89 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1231185986 14q11.2 14 24001420C> G null L V 89 89 missense 0.519 possibly damaging 0.05 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs761771384 14q11.2 14 24001423G> A null G S 90 90 missense 0.962 probably damaging 0.04 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1437273622 14q11.2 14 24001426C> T null L F 91 91 missense 0.929 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,TOPMed,gnomAD rs530645165 14q11.2 14 24001430A> G null N S 92 92 0.001797 missense 0.003 benign 0.05 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,TOPMed,gnomAD rs530645165 14q11.2 14 24001430A> C null N T 92 92 0.001797 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 Ensembl rs796288776 14q11.2 14 24001428_24001430delinsGA C null N T 92 92 missense 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs766319643 14q11.2 14 24001432A> G null N D 93 93 missense 0.062 benign 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs766319643 14q11.2 14 24001432A> C null N H 93 93 missense 0.389 benign 0.01 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs943211407 14q11.2 14 24001433A> T null N I 93 93 missense 0.218 benign 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62000762 14q11.2 14 24001434T> G null N K 93 93 0.001797 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs754721407 14q11.2 14 24001436C> A null T N 94 94 missense 0.015 benign 0.4 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs747699153 14q11.2 14 24001442C> A null A D 96 96 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs747699153 14q11.2 14 24001442C> T null A V 96 96 missense 0.759 possibly damaging 0.07 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs756556457 14q11.2 14 24001444A> C null I L 97 97 missense 0.001 benign 0.39 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs756556457 14q11.2 14 24001444A> T null I L 97 97 missense 0.001 benign 0.39 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1373199815 14q11.2 14 24001445T> C null I T 97 97 missense 0.006 benign 0.57 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs749614585 14q11.2 14 24001449G> T null E D 98 98 missense 0.996 probably damaging 0.11 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,gnomAD rs567478473 14q11.2 14 24001447G> A null E K 98 98 2.0E-4 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,gnomAD rs567478473 14q11.2 14 24001447G> C null E Q 98 98 2.0E-4 missense 0.999 probably damaging 0.07 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 1000Genomes,ExAC,gnomAD rs536492742 14q11.2 14 24001451T> A null L Q 99 99 0.001198 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs1380555586 14q11.2 14 24001454C> A null A D 100 100 missense 0.226 benign 0.01 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs1380555586 14q11.2 14 24001454C> T null A V 100 100 missense 0.867 possibly damaging 0.04 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 Ensembl rs952936906 14q11.2 14 24001457C> A null P Q 101 101 missense 0.042 benign 0.19 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 Ensembl rs1464448197 14q11.2 14 24001459A> G null R G 102 102 missense 0.059 benign 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs772343228 14q11.2 14 24001460G> A null R K 102 102 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs775370402 14q11.2 14 24001465A> T null I F 104 104 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs760857123 14q11.2 14 24001469G> A null R K 105 105 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs760857123 14q11.2 14 24001469G> C null R T 105 105 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs765223297 14q11.2 14 24001471G> A null V M 106 106 missense 0.986 probably damaging 0.02 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs773256298 14q11.2 14 24001475A> G null N S 107 107 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs766078039 14q11.2 14 24001485C> G null H Q 110 110 missense 0.043 benign 0.44 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1340962152 14q11.2 14 24001483C> T null H Y 110 110 missense 0.062 benign 0.06 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1453147666 14q11.2 14 24001489G> C null D H 112 112 missense 0.453 possibly damaging 0.06 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1338648092 14q11.2 14 24001494A> C null L F 113 113 missense 0.747 possibly damaging 0.82 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1228423682 14q11.2 14 24001496C> G null S * 114 114 missense 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1342089078 14q11.2 14 24001495T> A null S T 114 114 missense 0.045 benign 1.0 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs369952854 14q11.2 14 24001504G> C null A P 117 117 missense 0.099 benign 0.2 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs369952854 14q11.2 14 24001504G> A null A T 117 117 missense 0.026 benign 0.82 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs1224668343 14q11.2 14 24001507T> G null S A 118 118 missense 0.021 benign 0.51 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs754329004 14q11.2 14 24001510G> C null A P 119 119 missense 0.188 benign 0.22 tolerated 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs757827341 14q11.2 14 24001517G> A null C Y 121 121 missense 0.007 benign 0.41 tolerated - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs1416611464 14q11.2 14 24004342G> C null G A 123 123 missense 0.013 benign 0.52 tolerated - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs763748555 14q11.2 14 24004344T> C null W R 124 124 missense 0.013 benign 0.21 tolerated - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed,gnomAD rs753291784 14q11.2 14 24004345G> C null W S 124 124 missense 0.005 benign 0.03 deleterious - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ESP,ExAC,TOPMed,gnomAD rs139640898 14q11.2 14 24004348C> A null T K 125 125 missense 0.011 benign 1.0 tolerated - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs1378390870 14q11.2 14 24004351G> T null R M 126 126 missense 0.043 benign 0.1 tolerated - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs1378390870 14q11.2 14 24004351G> C null R T 126 126 missense 0.013 benign 0.51 tolerated - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,TOPMed rs750917599 14q11.2 14 24004353A> G null K E 127 127 missense 0.0 benign 0.68 tolerated - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs1466401048 14q11.2 14 24004354A> G null K R 127 127 missense 0.006 benign 0.58 tolerated - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed rs897299668 cosmic curated [Cosmic]: oesophagus cosmic_study:582 14q11.2 14 24004358G> T null K N 128 128 missense 0.015 benign 0.09 tolerated - low confidence 1 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1174062919 14q11.2 14 24004360G> T null R M 129 129 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs758888809 14q11.2 14 24004366C> T null A V 131 131 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 TOPMed,gnomAD rs1389173658 14q11.2 14 24004370A> T null * C 132 132 stop gained 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 ExAC,gnomAD rs751981791 14q11.2 14 24004368T> G null * G 132 132 missense 0 A0A087WSZ6 DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 gnomAD rs1401923675 14q11.2 14 24004369G> T null * L 132 132 missense 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1462259444 5q11.2 5 59217274A> C null I M 3 3 missense 0.014 benign 0.01 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1156969679 5q11.2 5 59217276T> C null I V 3 3 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1361964200 5q11.2 5 59217264T> C null N D 7 7 missense 0.0 benign 0.94 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1002742347 5q11.2 5 59217262G> T null N K 7 7 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs898680001 5q11.2 5 59217252A> G null F L 11 11 missense 0.0 benign 0.66 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs898680001 5q11.2 5 59217252A> C null F V 11 11 missense 0.0 benign 0.57 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,TOPMed,gnomAD rs561320004 5q11.2 5 59217249T> C null K E 12 12 3.99E-4 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1272475643 5q11.2 5 59217245G> A null T I 13 13 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs749463963 5q11.2 5 59217234G> T null C * 16 16 stop gained 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs939778691 5q11.2 5 59217232C> T null W * 17 17 stop gained 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs886755305 5q11.2 5 59217230C> G null A P 18 18 missense 0.106 benign 0.44 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs773745652 5q11.2 5 59215948G> A null T I 28 28 missense 0.164 benign 0.4 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs772608117 5q11.2 5 59215945G> C null S C 29 29 missense 0.957 probably damaging 0.01 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs562952667 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q11.2 5 59215942G> A null A V 30 30 2.0E-4 missense 0.001 benign 0.2 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,NCI-TCGA,TOPMed,gnomAD rs780090398 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q11.2 5 59215936C> T null R Q 32 32 missense 0.946 probably damaging 0.0 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,NCI-TCGA,TOPMed,gnomAD rs749395945 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 5q11.2 5 59215937G> A null R W 32 32 missense 0.998 probably damaging 0.0 deleterious - low confidence 1 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1363477204 5q11.2 5 59215934T> C null S G 33 33 missense 0.012 benign 0.18 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,NCI-TCGA,TOPMed,gnomAD rs756389970 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q11.2 5 59215931G> A null P S 34 34 missense 0.023 benign 0.05 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1168647282 5q11.2 5 59215926C> A null L F 35 35 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1303629213 5q11.2 5 59215927A> G null L S 35 35 missense 0.971 probably damaging 0.05 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,gnomAD rs372954941 5q11.2 5 59215925C> A null D Y 36 36 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs780941133 5q11.2 5 59215922G> C null P A 37 37 missense 0.034 benign 0.11 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1190895236 5q11.2 5 59215921G> A null P L 37 37 missense 0.033 benign 0.04 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs780941133 5q11.2 5 59215922G> A null P S 37 37 missense 0.034 benign 0.52 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1561730762 5q11.2 5 59215910G> A null P S 41 41 missense 0.159 benign 0.13 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs764024044 5q11.2 5 59215901C> T null G R 44 44 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs764024044 5q11.2 5 59215901C> G null G R 44 44 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs757789550 cosmic curated [Cosmic]: liver pubmed:23788652,cosmic_study:527 5q11.2 5 59215895T> C null I V 46 46 missense 0.006 benign 1.0 tolerated - low confidence 1 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1312305936 5q11.2 5 59215876A> G null V A 52 52 missense 0.107 benign 0.62 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,TOPMed,gnomAD rs375081915 5q11.2 5 59215877C> T null V I 52 52 missense 0.344 benign 0.04 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1245712072 5q11.2 5 59215872G> C null H Q 53 53 missense 0.999 probably damaging 0.18 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs764761417 5q11.2 5 59215871T> C null S G 54 54 missense 0.084 benign 0.26 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs759197521 5q11.2 5 59215870C> T null S N 54 54 missense 0.933 probably damaging 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1375168640 5q11.2 5 59215868G> T null Q K 55 55 missense 0.925 probably damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs765474542 5q11.2 5 59215864C> T null R Q 56 56 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1331825221 5q11.2 5 59215862G> A null R W 57 57 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514466 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464250 pubmed:22464250 5q11.2 5 59215856A> C null S A 59 59 missense 0.995 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000022937 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514466 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464250 pubmed:22464250 5q11.2 5 59215856A> C null S A 59 59 missense 0.995 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. MIM:614613 pubmed:22464250,pubmed:22464252,pubmed:23033274,pubmed:23043190 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs1561730426 5q11.2 5 59215853A> C null F V 60 60 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1488614653 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 5q11.2 5 59215844G> A null R * 63 63 missense 1 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1249867223 5q11.2 5 59215841A> G null S P 64 64 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1010105315 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23104009,cosmic_study:449 5q11.2 5 59215838C> T null D N 65 65 missense 0.982 probably damaging 0.02 deleterious 1 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1010105315 5q11.2 5 59215838C> A null D Y 65 65 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1175561902 5q11.2 5 59215828T> A null Y F 68 68 missense 0.027 benign 0.42 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs762270122 5q11.2 5 59215823G> T null L I 70 70 missense 0.963 probably damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs895770261 5q11.2 5 59215807A> G null M T 75 75 missense 0.023 benign 0.05 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs926956807 5q11.2 5 59215801C> T null R Q 77 77 missense 0.968 probably damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs775608955 5q11.2 5 59215802G> A null R W 77 77 missense 0.287 benign 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1036024674 5q11.2 5 59215784T> A null S C 83 83 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1236617747 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 5q11.2 5 59215777A> G null I T 85 85 missense 0.275 benign 0.3 tolerated 1 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,NCI-TCGA,gnomAD rs763492345 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q11.2 5 59193532C> T null G R 87 87 missense 0.974 probably damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514464 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464250,pubmed:23033274 pubmed:22464250 5q11.2 5 59193511G> T null P T 94 94 missense 0.999 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000022935 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514464 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464250,pubmed:23033274 pubmed:22464250 5q11.2 5 59193511G> T null P T 94 94 missense 0.999 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. MIM:614613 pubmed:22464250,pubmed:22464252,pubmed:23033274,pubmed:23043190 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514465 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:24203977 5q11.2 5 59193507A> C null F C 95 95 missense 0.999 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000087310 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514465 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464250 pubmed:22464250 5q11.2 5 59193507A> G null F S 95 95 missense 0.999 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000022936 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514465 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464250 pubmed:22464250 5q11.2 5 59193507A> G null F S 95 95 missense 0.999 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. MIM:614613 pubmed:22464250,pubmed:22464252,pubmed:23033274,pubmed:23043190 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes rs202012782 5q11.2 5 59193504G> T null A D 96 96 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514468 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464252 pubmed:22464252 5q11.2 5 59193502G> C null Q E 97 97 missense 0.994 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000022939 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514468 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464252 pubmed:22464252 5q11.2 5 59193502G> C null Q E 97 97 missense 0.994 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. MIM:614613 pubmed:22464250,pubmed:22464252,pubmed:23033274,pubmed:23043190 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,NCI-TCGA,gnomAD rs776726294 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 5q11.2 5 59185247G> A null R * 103 103 stop gained 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,NCI-TCGA,gnomAD rs766490621 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 5q11.2 5 59185246C> T null R Q 103 103 missense 0.999 probably damaging 0.04 deleterious 1 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1387701505 5q11.2 5 59185241C> T null V I 105 105 missense 0.997 probably damaging 0.06 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,NCI-TCGA,gnomAD rs773367832 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 5q11.2 5 59185237C> T null R Q 106 106 missense 0.954 probably damaging 0.0 deleterious 1 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1433192550 5q11.2 5 59185235T> A null N Y 107 107 missense 0.804 possibly damaging 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1202749645 5q11.2 5 59185202G> A null R * 118 118 stop gained 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs771830270 5q11.2 5 59185201C> T null R Q 118 118 missense 0.765 possibly damaging 0.25 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs747906766 5q11.2 5 59185199C> T null A T 119 119 missense 0.001 benign 0.61 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs774291005 5q11.2 5 59185190T> G null K Q 122 122 missense 0.299 benign 0.06 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1561654257 5q11.2 5 59185189T> G null K T 122 122 missense 0.302 benign 0.04 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1237487684 5q11.2 5 59180636G> A null P L 125 125 missense 0.001 benign 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs773983117 5q11.2 5 59180637G> A null P S 125 125 missense 0.003 benign 0.38 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs773983117 5q11.2 5 59180637G> T null P T 125 125 missense 0.003 benign 0.14 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1324756013 5q11.2 5 59180632C> T null M I 126 126 missense 0.003 benign 0.46 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1347975754 5q11.2 5 59180631A> G null C R 127 127 missense 0.001 benign 0.29 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs749222606 5q11.2 5 59180622G> A null P S 130 130 missense 0.003 benign 0.27 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs749222606 5q11.2 5 59180622G> T null P T 130 130 missense 0.006 benign 0.29 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,gnomAD rs377740085 5q11.2 5 59180618G> A null S F 131 131 missense 0.718 possibly damaging 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs769361266 5q11.2 5 59180615A> T null I N 132 132 missense 0.003 benign 0.16 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs372039525 5q11.2 5 59180612T> C null N S 133 133 missense 0.005 benign 0.83 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs780848487 5q11.2 5 59180609T> G null K T 134 134 missense 0.164 benign 0.09 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1242734289 5q11.2 5 59180601T> C null I V 137 137 missense 0.001 benign 0.3 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1398425084 5q11.2 5 59180597G> T null T K 138 138 missense 0.076 benign 0.12 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs767060983 5q11.2 5 59038947C> T null S N 147 147 missense 0.047 benign 0.56 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1213097056 5q11.2 5 59038944T> G null E A 148 148 missense 0.641 possibly damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1251062427 5q11.2 5 59038943C> G null E D 148 148 missense 0.827 possibly damaging 0.14 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1455341183 5q11.2 5 59038945C> T null E K 148 148 missense 0.837 possibly damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1157727798 5q11.2 5 59038941G> A null T I 149 149 missense 0.975 probably damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs1057520731 5q11.2 5 59038899A> C null L R 163 163 missense 0.956 probably damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397515433 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:23033274 pubmed:23033274 5q11.2 5 59038869G> A null A V 173 173 missense 0.486 possibly damaging 0.02 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000033154 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397515433 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:23033274 pubmed:23033274 5q11.2 5 59038869G> A null A V 173 173 missense 0.486 possibly damaging 0.02 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. MIM:614613 pubmed:22464250,pubmed:22464252,pubmed:23033274,pubmed:23043190 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1193514797 5q11.2 5 58993423T> C null M V 191 191 missense 0.037 benign 0.21 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs774783517 5q11.2 5 58993416C> A null R L 193 193 missense 0.969 probably damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs774783517 5q11.2 5 58993416C> T null R Q 193 193 missense 0.903 possibly damaging 0.04 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1048094273 5q11.2 5 58993391A> T null F L 201 201 missense 0.087 benign 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs1554039692 5q11.2 5 58993377A> C null F C 206 206 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1405174140 5q11.2 5 58991999G> C null Q E 210 210 missense 0.805 possibly damaging 0.04 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs754651326 5q11.2 5 58991995T> C null H R 211 211 missense 0.142 benign 0.07 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs753598558 5q11.2 5 58991991T> G null E D 212 212 missense 0.065 benign 0.26 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1036445401 5q11.2 5 58991980G> A null P L 216 216 missense 0.036 benign 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs757564654 5q11.2 5 58991978A> G null S P 217 217 missense 0.007 benign 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs752044490 5q11.2 5 58991971G> A null T I 219 219 missense 0.035 benign 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,TOPMed,gnomAD rs370618257 5q11.2 5 58991967C> G null Q H 220 220 missense 0.438 benign 0.15 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,TOPMed,gnomAD rs374330851 5q11.2 5 58991968T> C null Q R 220 220 missense 0.033 benign 0.56 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1304984879 5q11.2 5 58991942G> T null P T 229 229 missense 0.972 probably damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs899992246 5q11.2 5 58991937C> G null M I 230 230 missense 0.03 benign 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1356305921 5q11.2 5 58991935G> T null S Y 231 231 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1413308053 5q11.2 5 58991927T> G null S R 234 234 missense 0.888 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs770694049 5q11.2 5 58991916C> G null K N 237 237 missense 0.457 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs561249844 5q11.2 5 58991909T> A null M L 240 240 missense 0.0 benign 0.73 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs746795466 5q11.2 5 58991899G> C null S C 243 243 missense 0.893 possibly damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs748140890 5q11.2 5 58991876G> C null P A 251 251 missense 0.996 probably damaging 0.04 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1231636922 5q11.2 5 58991872C> T null R K 252 252 missense 0.018 benign 0.11 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs754598492 5q11.2 5 58991861T> G null K Q 256 256 missense 0.0 benign 0.39 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1561253638 5q11.2 5 58991860T> G null K T 256 256 missense 0.136 benign 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1262205626 5q11.2 5 58991857G> C null T S 257 257 missense 0.014 benign 0.08 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs748880582 5q11.2 5 58991853T> A null E D 258 258 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1264970791 5q11.2 5 58991855C> T null E K 258 258 missense 0.098 benign 0.05 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,TOPMed,gnomAD rs372918737 5q11.2 5 58991852G> C null Q E 259 259 missense 0.061 benign 0.04 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs757591581 5q11.2 5 58991847T> A null E D 260 260 missense 0.423 benign 0.04 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1279634985 5q11.2 5 58991845T> C null D G 261 261 missense 0.001 benign 0.46 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1208242751 5q11.2 5 58990895T> G null E A 268 268 missense 0.364 benign 0.05 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs769291366 5q11.2 5 58990891A> C null D E 269 269 missense 0.005 benign 0.14 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes rs552984282 5q11.2 5 58990875G> C null L V 275 275 2.0E-4 missense 0.018 benign 0.12 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs777941503 5q11.2 5 58990858T> C null I M 280 280 missense 0.688 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs758765275 5q11.2 5 58990856G> C null A G 281 281 missense 0.549 possibly damaging 0.25 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs755025717 5q11.2 5 58990845C> T null G S 285 285 missense 0.914 probably damaging 0.08 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,TOPMed,gnomAD rs376373740 5q11.2 5 58990844C> A null G V 285 285 missense 0.98 probably damaging 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs766508184 5q11.2 5 58990841T> C null N S 286 286 missense 0.329 benign 0.1 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1396670027 5q11.2 5 58990838C> T null R Q 287 287 missense 0.615 possibly damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs750666346 5q11.2 5 58990839G> A null R W 287 287 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1006783426 5q11.2 5 58990823A> G null I T 292 292 missense 0.022 benign 0.1 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1251121956 5q11.2 5 58990818G> A null H Y 294 294 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1196836267 5q11.2 5 58990805T> C null Q R 298 298 missense 0.996 probably damaging 0.05 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1350718408 5q11.2 5 58989919C> G null E Q 299 299 missense 0.845 possibly damaging 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs767902478 5q11.2 5 58989915C> T null R Q 300 300 missense 0.647 possibly damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1278470168 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 5q11.2 5 58989916G> A null R W 300 300 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs761671224 5q11.2 5 58989900G> C null T R 305 305 missense 0.846 possibly damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1402900056 5q11.2 5 58989898A> G null F L 306 306 missense 0.927 probably damaging 0.08 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs751360815 5q11.2 5 58989890A> C null I M 308 308 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1357216727 5q11.2 5 58989882T> C null D G 311 311 missense 0.059 benign 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1357216727 5q11.2 5 58989882T> A null D V 311 311 missense 0.836 possibly damaging 0.05 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs913974941 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5q11.2 5 58989853C> T null E K 321 321 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs970290170 5q11.2 5 58989840T> C null H R 325 325 missense 0.011 benign 0.33 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs992592300 5q11.2 5 58989835C> G null D H 327 327 missense 0.948 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,ExAC,gnomAD rs528098299 5q11.2 5 58989828G> A null A V 329 329 2.0E-4 missense 0.988 probably damaging 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1188939348 5q11.2 5 58989826A> G null Y H 330 330 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs530605673 5q11.2 5 58989817T> G null N H 333 333 missense 0.952 probably damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1352779128 5q11.2 5 58989815A> T null N K 333 333 missense 0.606 possibly damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,gnomAD rs367669132 5q11.2 5 58989816T> C null N S 333 333 missense 0.007 benign 1.0 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1207918895 5q11.2 5 58989813A> G null I T 334 334 missense 0.801 possibly damaging 0.06 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1290773788 5q11.2 5 58989799C> T null V I 339 339 missense 0.288 benign 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs746692609 5q11.2 5 58989781C> T null V M 345 345 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1293451884 5q11.2 5 58989768G> A null T I 349 349 missense 0.939 probably damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1380798731 5q11.2 5 58989757C> A null E * 353 353 stop gained 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs79055937 5q11.2 5 58988575C> A null L F 359 359 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1348357236 5q11.2 5 58988577A> T null L M 359 359 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1379060456 5q11.2 5 58988569A> C null I M 361 361 missense 0.882 possibly damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1368076095 5q11.2 5 58988561G> A null A V 364 364 missense 0.139 benign 0.05 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs904055256 5q11.2 5 58988558A> G null I T 365 365 missense 0.7 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1001030257 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q11.2 5 58988559T> C null I V 365 365 missense 0.014 benign 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1254220543 5q11.2 5 58988552G> A null A V 367 367 missense 0.893 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs758935869 5q11.2 5 58988550T> C null S G 368 368 missense 0.836 possibly damaging 0.06 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1246619120 5q11.2 5 58988542T> C null I M 370 370 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1414958981 5q11.2 5 58988544T> C null I V 370 370 missense 0.988 probably damaging 0.07 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs776076740 5q11.2 5 58988535C> T null V I 373 373 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1204783862 5q11.2 5 58988531T> C null D G 374 374 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs867615283 5q11.2 5 58988532C> A null D Y 374 374 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1249227526 5q11.2 5 58988529G> A null H Y 375 375 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1195894502 5q11.2 5 58988520C> T null V M 378 378 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC rs17853590 5q11.2 5 58988516G> A null S F 379 379 missense 0.963 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC rs17853590 5q11.2 5 58988516G> T null S Y 379 379 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1272237963 5q11.2 5 58988513T> C null N S 380 380 missense 0.39 benign 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1016072268 5q11.2 5 58988510T> G null Q P 381 381 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1386666345 5q11.2 5 58977327A> C null M R 393 393 missense 0.923 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs757175453 5q11.2 5 58977321T> C null N S 395 395 missense 0.843 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1561216352 5q11.2 5 58977300T> C null N S 402 402 missense 0.88 possibly damaging 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs770069803 5q11.2 5 58977286C> G null V L 407 407 missense 0.034 benign 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1013533312 5q11.2 5 58977267T> A null Q L 413 413 missense 0.958 probably damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1238747360 5q11.2 5 58977253C> T null D N 418 418 missense 0.102 benign 0.05 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs768650775 5q11.2 5 58977228T> C null K R 426 426 missense 0.937 probably damaging 0.3 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs747133328 5q11.2 5 58977203C> T null M I 434 434 missense 0.066 benign 0.06 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs777826248 5q11.2 5 58977202C> T null V I 435 435 missense 0.479 possibly damaging 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs77776824 5q11.2 5 58977198A> C null I S 436 436 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs772296200 5q11.2 5 58977193T> C null I V 438 438 missense 0.03 benign 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1309634299 5q11.2 5 58976443C> T null M I 448 448 missense 0.762 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs1554033942 5q11.2 5 58976432G> A null A V 452 452 missense 0.887 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1435057344 5q11.2 5 58976425C> A null L F 454 454 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514467 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464250 pubmed:22464250 5q11.2 5 58976421T> G null T P 456 456 missense 0.999 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000022938 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514467 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464250 pubmed:22464250 5q11.2 5 58976421T> G null T P 456 456 missense 0.999 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. MIM:614613 pubmed:22464250,pubmed:22464252,pubmed:23033274,pubmed:23043190 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs1554033934 [ClinVar]: Acrodysostosis 2, with or without hormone resistance 5q11.2 5 58976418T> C null M V 457 457 missense 0.995 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000504451 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1169604180 5q11.2 5 58976392G> C null S R 465 465 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1441082063 5q11.2 5 58976385C> T null V I 468 468 missense 0.993 probably damaging 0.05 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs866625704 5q11.2 5 58976382G> A null L F 469 469 missense 0.763 possibly damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs761294824 5q11.2 5 58976376G> A null L F 471 471 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1294608194 5q11.2 5 58976373C> T null D N 472 472 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs1554033904 5q11.2 5 58976366T> C null Y C 474 474 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1463279737 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 5q11.2 5 58976361C> T null D N 476 476 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1373455491 5q11.2 5 58976352G> C null Q E 479 479 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1482282108 5q11.2 5 58975830T> C null N D 483 483 missense 0.731 possibly damaging 0.04 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,ExAC,gnomAD rs535640930 5q11.2 5 58975827T> C null M V 484 484 2.0E-4 missense 0.048 benign 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs767626308 5q11.2 5 58975820T> C null H R 486 486 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1272540003 5q11.2 5 58975818A> T null C S 487 487 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1313607193 5q11.2 5 58975815C> T null A T 488 488 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1350715292 5q11.2 5 58975806T> C null S G 491 491 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1023537907 5q11.2 5 58975788G> A null L F 497 497 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs77167781 5q11.2 5 58975787A> G null L P 497 497 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,TOPMed rs375852911 5q11.2 5 58975784T> C null Q R 498 498 missense 0.186 benign 0.13 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1407691506 5q11.2 5 58975782G> T null L M 499 499 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,gnomAD rs374011584 5q11.2 5 58975776G> A null R C 501 501 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1286578613 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 5q11.2 5 58975775C> T null R H 501 501 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1313358018 5q11.2 5 58975772T> C null Q R 502 502 missense 0.023 benign 0.17 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs926391290 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376,cosmic_study:414 5q11.2 5 58975766G> A null T M 504 504 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WSZ7 PDE4D Phosphodiesterase ESP rs369556531 5q11.2 5 58975760C> T null R Q 506 506 missense 0.97 probably damaging 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs775209507 5q11.2 5 58975761G> A null R W 506 506 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs769583461 5q11.2 5 58975756T> C null I M 507 507 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376541855 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q11.2 5 58975753C> T null M I 508 508 missense 0.055 benign 0.06 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1412892900 5q11.2 5 58975754A> G null M T 508 508 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371950648 5q11.2 5 58975740G> A null R C 513 513 2.0E-4 missense 0.472 possibly damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs753680481 5q11.2 5 58975739C> T null R H 513 513 missense 0.0 benign 0.37 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs777455204 5q11.2 5 58975736T> C null Q R 514 514 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1157136199 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 5q11.2 5 58975728G> A null R * 517 517 stop gained 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs941039861 5q11.2 5 58975727C> T null R Q 517 517 missense 0.234 benign 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs387906744 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:11200992,pubmed:22464252 5q11.2 5 58975718T> G null E A 520 520 missense 0.804 possibly damaging 0.04 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000022940 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1277191501 5q11.2 5 58975716G> A null R C 521 521 missense 0.905 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1161354400 5q11.2 5 58975713C> A null G C 522 522 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1392211986 cosmic curated [Cosmic]: liver cosmic_study:322 5q11.2 5 58975710T> C null M V 523 523 missense 0.015 benign 0.02 deleterious 1 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1388793262 5q11.2 5 58975705C> A null E D 524 524 missense 0.001 benign 0.54 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1268462480 5q11.2 5 58975685T> C null K R 531 531 missense 0.998 probably damaging 0.5 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1267030767 5q11.2 5 58975683G> T null H N 532 532 missense 0.808 possibly damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1284551086 5q11.2 5 58975678A> T null N K 533 533 missense 0.566 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs752409059 5q11.2 5 58975679T> C null N S 533 533 missense 0.081 benign 0.15 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,gnomAD rs371593645 5q11.2 5 58975671C> T null V M 536 536 missense 0.191 benign 0.01 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs982682220 5q11.2 5 58975665T> C null K E 538 538 missense 0.589 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514469 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464252 pubmed:11200992,pubmed:22464252 5q11.2 5 58975076C> T null G D 542 542 missense 1.0 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000022941 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs397514469 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:22464252 pubmed:11200992,pubmed:22464252 5q11.2 5 58975076C> T null G D 542 542 missense 1.0 probably damaging 0.0 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. MIM:614613 pubmed:22464250,pubmed:22464252,pubmed:23033274,pubmed:23043190 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1199841180 5q11.2 5 58975074A> G null F L 543 543 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs1554033304 5q11.2 5 58975065A> C null Y D 546 546 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs587777188 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:23033274 pubmed:24203977 5q11.2 5 58975061A> G null I T 547 547 missense 0.849 possibly damaging 0.01 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000087311 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl,dbSNP rs587777188 [Ensembl]: Acrodysostosis 2, with or without hormone resistance (acrdys2), [ClinVar]: Acrodysostosis 2, with or without hormone resistance pubmed:23033274 pubmed:24203977 5q11.2 5 58975061A> G null I T 547 547 missense 0.849 possibly damaging 0.01 deleterious 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. MIM:614613 pubmed:22464250,pubmed:22464252,pubmed:23033274,pubmed:23043190 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs746987110 5q11.2 5 58975058A> G null V A 548 548 missense 0.014 benign 0.38 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs777359745 5q11.2 5 58975050G> A null L F 551 551 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1342756183 5q11.2 5 58975041T> C null T A 554 554 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs747795129 5q11.2 5 58975028A> T null L H 558 558 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,ExAC,gnomAD rs192644692 5q11.2 5 58975026C> T null V I 559 559 2.0E-4 missense 0.894 possibly damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1450600452 5q11.2 5 58975014C> T null A T 563 563 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs781640099 5q11.2 5 58975013G> A null A V 563 563 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1026421522 5q11.2 5 58975011G> T null Q K 564 564 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs757650454 5q11.2 5 58975007T> A null D V 565 565 missense 0.028 benign 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1246873572 5q11.2 5 58974996T> C null T A 569 569 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1212267444 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q11.2 5 58974981G> A null R C 574 574 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs764157419 5q11.2 5 58974965C> T null S N 579 579 missense 0.993 probably damaging 0.07 tolerated 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1161941860 5q11.2 5 58974936G> A null P S 589 589 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1312356137 5q11.2 5 58974933C> G null D H 590 590 missense 0.532 possibly damaging 0.02 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs769178419 5q11.2 5 58974914C> T null R Q 596 596 missense 0.003 benign 0.47 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,dbSNP,gnomAD rs759832724 [ClinVar]: Acrodysostosis 2, with or without hormone resistance 5q11.2 5 58974915G> A null R W 596 596 missense 0.409 benign 0.01 deleterious - low confidence 0 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) MIM:614613 ClinVar:RCV000714845 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs760459130 5q11.2 5 58974910C> A null Q H 597 597 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1348396215 5q11.2 5 58974902G> A null T I 600 600 missense 0.063 benign 0.12 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1310211689 5q11.2 5 58974896T> G null K T 602 602 missense 0.878 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1409377328 5q11.2 5 58974888A> G null F L 605 605 missense 0.993 probably damaging 0.01 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1289089427 5q11.2 5 58974885C> T null E K 606 606 missense 0.021 benign 0.03 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs771691597 5q11.2 5 58974878G> A null T I 608 608 missense 0.943 probably damaging 0.01 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1434350907 5q11.2 5 58974873C> T null E K 610 610 missense 0.54 possibly damaging 0.0 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1434350907 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 5q11.2 5 58974873C> G null E Q 610 610 missense 0.836 possibly damaging 0.01 deleterious - low confidence 1 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs747706824 5q11.2 5 58974867C> A null D Y 612 612 missense 0.438 benign 0.0 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1190170769 5q11.2 5 58974864C> A null G C 613 613 missense 0.794 possibly damaging 0.05 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182029606 cosmic curated [Cosmic]: lung pubmed:23033341,cosmic_study:456 5q11.2 5 58974859C> A null E D 614 614 2.0E-4 missense 0.269 benign 0.1 tolerated - low confidence 1 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,TOPMed,gnomAD rs367782798 5q11.2 5 58974852T> C null T A 617 617 missense 0.001 benign 0.77 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1046758395 5q11.2 5 58974851G> A null T M 617 617 missense 0.578 possibly damaging 0.17 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs757708323 5q11.2 5 58974845T> G null K T 619 619 missense 0.033 benign 0.29 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,ExAC,gnomAD rs545766463 5q11.2 5 58974840T> C null S G 621 621 2.0E-4 missense 0.001 benign 0.57 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs778301270 5q11.2 5 58974837C> T null G S 622 622 missense 0.083 benign 0.16 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs758442946 5q11.2 5 58974836C> A null G V 622 622 missense 0.083 benign 0.03 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed,gnomAD rs1290453118 5q11.2 5 58974834T> C null S G 623 623 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs765380141 5q11.2 5 58974827A> G null V A 625 625 missense 0.006 benign 0.8 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs752733564 5q11.2 5 58974828C> T null V M 625 625 missense 0.103 benign 0.1 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1400645622 5q11.2 5 58974825C> A null E * 626 626 stop gained 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1306674398 5q11.2 5 58974819C> G null D H 628 628 missense 0.875 possibly damaging 0.09 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs759617045 5q11.2 5 58974815G> A null T I 629 629 missense 0.648 possibly damaging 0.25 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs759617045 5q11.2 5 58974815G> C null T S 629 629 missense 0.164 benign 0.78 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs754094337 5q11.2 5 58974803T> C null D G 633 633 missense 0.987 probably damaging 0.33 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1369043685 5q11.2 5 58974794G> A null T I 636 636 missense 0.991 probably damaging 0.05 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1412324819 5q11.2 5 58974792G> C null L V 637 637 missense 0.969 probably damaging 0.12 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1058458 5q11.2 5 58974789A> G null C R 638 638 missense 0.989 probably damaging 0.07 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1168175467 5q11.2 5 58974758G> A null P L 648 648 missense 0.994 probably damaging 0.02 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,TOPMed,gnomAD rs375840888 5q11.2 5 58974756G> A null L F 649 649 missense 0.991 probably damaging 0.37 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,TOPMed,gnomAD rs375840888 5q11.2 5 58974756G> C null L V 649 649 missense 0.969 probably damaging 0.38 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1394361462 5q11.2 5 58974753C> T null D N 650 650 missense 0.969 probably damaging 0.01 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs772172326 5q11.2 5 58974750C> A null E * 651 651 stop gained 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1186516969 5q11.2 5 58974728A> G null V A 658 658 missense 0.015 benign 0.89 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1246841826 5q11.2 5 58974729C> T null V I 658 658 missense 0.062 benign 0.27 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs761867546 5q11.2 5 58974725C> T null G E 659 659 missense 0.0 benign 0.79 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1310535290 5q11.2 5 58974715C> G null E D 662 662 missense 0.075 benign 0.16 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1270198092 5q11.2 5 58974710C> A null S I 664 664 missense 0.071 benign 0.19 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1229281111 5q11.2 5 58974709G> C null S R 664 664 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,gnomAD rs1058459 5q11.2 5 58974706C> A null Q H 665 665 missense 0.003 benign 0.16 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase TOPMed rs1295172715 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q11.2 5 58974705G> A null P S 666 666 missense 0.001 benign 0.12 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,ExAC,TOPMed,gnomAD rs575611627 5q11.2 5 58974698G> T null A D 668 668 2.0E-4 missense 0.055 benign 0.02 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,ExAC,TOPMed,gnomAD rs575611627 5q11.2 5 58974698G> C null A G 668 668 2.0E-4 missense 0.037 benign 0.04 deleterious - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,ExAC,TOPMed,gnomAD rs575611627 5q11.2 5 58974698G> A null A V 668 668 2.0E-4 missense 0.001 benign 0.53 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase Ensembl rs1561206950 5q11.2 5 58974707_58974708insTCAGGC T null C * 669 669 stop gained 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs779815130 5q11.2 5 58974695C> A null C F 669 669 missense 0.037 benign 0.26 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs779815130 5q11.2 5 58974695C> T null C Y 669 669 missense 0.014 benign 0.36 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs747415773 5q11.2 5 58974693C> T null V I 670 670 missense 0.003 benign 0.09 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201517515 5q11.2 5 58974690T> C null I V 671 671 2.0E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ESP,ExAC,TOPMed,gnomAD rs368214145 5q11.2 5 58974684C> T null D N 673 673 missense 0.112 benign 0.07 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase gnomAD rs1159391217 5q11.2 5 58974696_58974697insTCTATGACAC A null D V 673 673 stop gained 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,NCI-TCGA,TOPMed,gnomAD rs748667285 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q11.2 5 58974681G> A null R C 674 674 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,NCI-TCGA,TOPMed,gnomAD rs775821294 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q11.2 5 58974680C> T null R H 674 674 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A087WSZ7 PDE4D Phosphodiesterase ExAC,TOPMed,gnomAD rs753989811 5q11.2 5 58974668G> A null T M 678 678 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WSZ8 RNASEK Ribonuclease kappa gnomAD rs1369773673 17p13.1 17 7013356A> C null K Q 2 2 missense 0.617 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa gnomAD rs1475289178 17p13.1 17 7013360A> C null K T 3 3 missense 0.617 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed,gnomAD rs1157741021 17p13.1 17 7013363G> C null C S 4 4 missense 0.3 benign 0 A0A087WSZ8 RNASEK Ribonuclease kappa 1000Genomes,TOPMed,gnomAD rs527536445 17p13.1 17 7013365C> G null R G 5 5 2.0E-4 missense 0.3 benign 0 A0A087WSZ8 RNASEK Ribonuclease kappa ExAC,gnomAD rs763633757 17p13.1 17 7013366G> A null R Q 5 5 missense 0.412 benign 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed,gnomAD rs963412400 17p13.1 17 7013374C> T null L F 8 8 missense 0.773 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed,gnomAD rs963412400 17p13.1 17 7013374C> G null L V 8 8 missense 0.578 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed,gnomAD rs948879360 17p13.1 17 7013377C> T null P S 9 9 missense 0.81 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed rs1233257038 17p13.1 17 7013393C> T null S F 14 14 missense 0.692 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed,gnomAD rs1234032713 17p13.1 17 7013395C> T null R C 15 15 missense 0.833 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed,gnomAD rs1234032713 17p13.1 17 7013395C> A null R S 15 15 missense 0.412 benign 0 A0A087WSZ8 RNASEK Ribonuclease kappa 1000Genomes,ExAC,gnomAD rs570243600 17p13.1 17 7013400T> G null D E 16 16 2.0E-4 missense 0.631 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa gnomAD rs776966111 17p13.1 17 7013402A> G null D G 17 17 missense 0.737 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa gnomAD rs776966111 17p13.1 17 7013402A> T null D V 17 17 missense 0.908 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa gnomAD rs1261771809 17p13.1 17 7013404G> A null D N 18 18 missense 0.737 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed,gnomAD rs1015267270 17p13.1 17 7013407G> C null A P 19 19 missense 0.826 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed,gnomAD rs1015267270 17p13.1 17 7013407G> A null A T 19 19 missense 0.691 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed,gnomAD rs1180949739 17p13.1 17 7013416G> A null E K 22 22 missense 0.497 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed,gnomAD rs1409154211 17p13.1 17 7013417A> T null E V 22 22 missense 0.617 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed rs1172206288 17p13.1 17 7013422G> A null D N 24 24 missense 0.737 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed,gnomAD rs1464407241 17p13.1 17 7013432G> A null G D 27 27 missense 0.97 probably damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed rs1454126716 17p13.1 17 7013431G> C null G R 27 27 missense 0.98 probably damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa 1000Genomes,ExAC,TOPMed,gnomAD rs549383061 17p13.1 17 7013440G> T null E * 30 30 2.0E-4 stop gained 0 A0A087WSZ8 RNASEK Ribonuclease kappa gnomAD rs1377545827 17p13.1 17 7013441A> G null E G 30 30 missense 0.617 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa 1000Genomes,ExAC,TOPMed,gnomAD rs549383061 17p13.1 17 7013440G> A null E K 30 30 2.0E-4 missense 0.497 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa 1000Genomes,ExAC,TOPMed,gnomAD rs549383061 17p13.1 17 7013440G> C null E Q 30 30 2.0E-4 missense 0.617 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa gnomAD rs1415659446 17p13.1 17 7013446T> C null W R 32 32 missense 0.0 benign 0 A0A087WSZ8 RNASEK Ribonuclease kappa Ensembl rs1567723188 17p13.1 17 7013453G> A null G D 34 34 missense 0.97 probably damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa gnomAD rs1348727365 17p13.1 17 7013459A> G null Y C 36 36 missense 0.883 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed rs937731073 17p13.1 17 7013462C> T null S F 37 37 missense 0.692 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa ExAC,gnomAD rs750886723 17p13.1 17 7013471G> A null C Y 40 40 missense 0.598 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa gnomAD rs1308423669 17p13.1 17 7013476G> A null D N 42 42 missense 0.0 benign 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed rs1348360411 17p13.1 17 7013484G> T null L F 44 44 missense 0.773 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa ExAC,gnomAD rs758892765 17p13.1 17 7013483T> C null L S 44 44 missense 0.773 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed rs1303047253 17p13.1 17 7013486C> T null S F 45 45 missense 0.692 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa ExAC,TOPMed,gnomAD rs747276071 17p13.1 17 7013492G> C null C S 47 47 missense 0.3 benign 0 A0A087WSZ8 RNASEK Ribonuclease kappa ExAC,gnomAD rs780561345 17p13.1 17 7013491T> A null C S 47 47 missense 0.3 benign 0 A0A087WSZ8 RNASEK Ribonuclease kappa ExAC,gnomAD rs755232884 17p13.1 17 7013499C> A null H Q 49 49 missense 0.412 benign 0 A0A087WSZ8 RNASEK Ribonuclease kappa TOPMed rs1410480496 17p13.1 17 7013506C> T null P S 52 52 missense 0.81 possibly damaging 0 A0A087WSZ8 RNASEK Ribonuclease kappa gnomAD rs550820234 17p13.1 17 7013510G> C null C S 53 53 missense 0.3 benign 0 A0A087WSZ8 RNASEK Ribonuclease kappa gnomAD rs1266646564 17p13.1 17 7013516G> A null R K 55 55 missense 0.146 benign 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs1343097098 14q11.2 14 22168433A> C null E A 2 2 missense 0.48 possibly damaging 0.06 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs781777823 14q11.2 14 22168436C> T null T I 3 3 missense 0.406 benign 0.07 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs781777823 14q11.2 14 22168436C> G null T S 3 3 missense 0.31 benign 0.06 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1190075190 14q11.2 14 22168442T> C null L P 5 5 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs748690650 14q11.2 14 22168448T> A null V E 7 7 missense 0.017 benign 0.02 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs769957401 14q11.2 14 22168450C> T null L F 8 8 missense 0.935 probably damaging 0.23 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed rs1322965178 14q11.2 14 22168453T> G null S A 9 9 missense 0.01 benign 0.33 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1160465090 14q11.2 14 22168454C> T null S L 9 9 missense 0.0 benign 0.93 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs773348077 14q11.2 14 22168457G> A null G D 10 10 missense 0.108 benign 0.02 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs773348077 14q11.2 14 22168457G> T null G V 10 10 missense 0.003 benign 0.95 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs991088741 14q11.2 14 22168463T> C null L S 12 12 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 Ensembl rs1188933380 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22168467G> T null L F 13 13 missense 0.291 benign 0.4 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs775143221 14q11.2 14 22168471C> T null Q * 15 15 stop gained 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1415027473 14q11.2 14 22168472A> G null Q R 15 15 missense 0.979 probably damaging 0.04 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1353013419 14q11.2 14 22168476G> T null L F 16 16 missense 0.393 benign 0.12 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs553753273 14q11.2 14 22168478C> T null T I 17 17 missense 0.524 possibly damaging 0.02 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1347459008 14q11.2 14 22168705G> T null W C 18 18 missense 0.127 benign 0.11 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1307587066 14q11.2 14 22168480T> G null W G 18 18 missense 0.765 possibly damaging 0.04 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed rs1394899968 14q11.2 14 22168706G> A null V M 19 19 missense 0.793 possibly damaging 0.14 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs777701924 14q11.2 14 22168715C> T null Q * 22 22 stop gained 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 Ensembl rs12883680 14q11.2 14 22168720A> C null Q H 23 23 missense 0.866 possibly damaging 0.01 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs78099452 14q11.2 14 22168722C> A null P Q 24 24 missense 0.526 possibly damaging 0.01 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs78099452 14q11.2 14 22168722C> G null P R 24 24 missense 0.526 possibly damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs771028291 14q11.2 14 22168721C> T null P S 24 24 missense 0.315 benign 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed rs12888117 14q11.2 14 22168725T> C null V A 25 25 missense 0.015 benign 0.33 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed rs12888117 14q11.2 14 22168725T> A null V E 25 25 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs746110044 14q11.2 14 22168724G> T null V L 25 25 missense 0.011 benign 0.14 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs746110044 14q11.2 14 22168724G> A null V M 25 25 missense 0.011 benign 0.1 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs776412133 14q11.2 14 22168729G> C null Q H 26 26 missense 0.96 probably damaging 0.05 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs765273605 14q11.2 14 22168730A> G null S G 27 27 missense 0.007 benign 0.19 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1170461668 14q11.2 14 22168731G> A null S N 27 27 missense 0.133 benign 0.25 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1355760019 14q11.2 14 22168734C> T null P L 28 28 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1013841925 14q11.2 14 22168736C> G null Q E 29 29 missense 0.413 benign 0.11 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1013841925 14q11.2 14 22168736C> A null Q K 29 29 missense 0.413 benign 0.1 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs772588949 14q11.2 14 22168740C> A null A D 30 30 missense 0.113 benign 0.14 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 Ensembl rs12888128 14q11.2 14 22168743T> A null V E 31 31 missense 0.299 benign 0.02 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139501016 14q11.2 14 22168742G> C null V L 31 31 0.002396 missense 0.003 benign 1.0 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139501016 14q11.2 14 22168742G> A null V M 31 31 0.002396 missense 0.068 benign 0.2 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs754684291 14q11.2 14 22168745A> T null I F 32 32 missense 0.299 benign 0.7 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs754684291 14q11.2 14 22168745A> G null I V 32 32 missense 0.021 benign 0.5 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1370444248 14q11.2 14 22168748C> T null L F 33 33 missense 0.755 possibly damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1370444248 14q11.2 14 22168748C> A null L I 33 33 missense 0.015 benign 1.0 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs753171638 14q11.2 14 22168751C> T null R * 34 34 stop gained 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs922736458 14q11.2 14 22168752G> T null R L 34 34 missense 0.001 benign 0.05 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs922736458 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22168752G> A null R Q 34 34 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1203971953 14q11.2 14 22168755A> G null E G 35 35 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 Ensembl rs1172205317 14q11.2 14 22168758G> T null G V 36 36 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1470243414 14q11.2 14 22168760G> A null E K 37 37 missense 0.124 benign 0.2 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs749305507 14q11.2 14 22168765T> G null D E 38 38 missense 0.028 benign 0.36 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs778385668 14q11.2 14 22168764A> G null D G 38 38 missense 0.182 benign 0.04 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs1192101636 14q11.2 14 22168763G> C null D H 38 38 missense 0.668 possibly damaging 0.02 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs928472441 14q11.2 14 22168767C> T null A V 39 39 missense 0.003 benign 0.57 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1421290966 14q11.2 14 22168769G> T null V F 40 40 missense 0.091 benign 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs757311562 14q11.2 14 22168772A> C null I L 41 41 missense 0.09 benign 0.21 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs746021742 14q11.2 14 22168773T> G null I S 41 41 missense 0.511 possibly damaging 0.03 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs757311562 14q11.2 14 22168772A> G null I V 41 41 missense 0.09 benign 0.73 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs776395382 14q11.2 14 22168778T> C null C R 43 43 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs893810974 14q11.2 14 22168788C> T null S F 46 46 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs61734992 14q11.2 14 22168790A> G null K E 47 47 missense 0.039 benign 0.1 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed rs1167902036 14q11.2 14 22168791A> G null K R 47 47 missense 0.021 benign 0.06 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs775663518 14q11.2 14 22168793G> C null A P 48 48 missense 0.006 benign 0.22 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs775663518 14q11.2 14 22168793G> A null A T 48 48 missense 0.007 benign 1.0 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs769583800 14q11.2 14 22168797T> C null L S 49 49 missense 0.709 possibly damaging 0.07 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1294020011 14q11.2 14 22168800A> T null Y F 50 50 missense 0.888 possibly damaging 0.14 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 Ensembl rs1566512475 14q11.2 14 22168809A> C null H P 53 53 missense 0.212 benign 0.18 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed rs1189163069 14q11.2 14 22168814T> C null Y H 55 55 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs1447934784 14q11.2 14 22168817A> G null R G 56 56 missense 0.908 possibly damaging 0.01 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs1243430424 14q11.2 14 22168824A> T null K M 58 58 missense 0.951 probably damaging 0.01 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ESP,ExAC,TOPMed,gnomAD rs371835719 14q11.2 14 22168825G> C null K N 58 58 missense 0.288 benign 0.07 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs759251798 14q11.2 14 22168826C> G null H D 59 59 missense 0.006 benign 0.45 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs767347621 14q11.2 14 22168827A> G null H R 59 59 missense 0.021 benign 0.24 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1475928666 14q11.2 14 22168830G> T null G V 60 60 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs761150684 14q11.2 14 22168835G> A null A T 62 62 missense 0.062 benign 0.1 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs763317708 14q11.2 14 22168839C> T null P L 63 63 missense 0.311 benign 0.46 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ExAC rs560852150 14q11.2 14 22168838C> T null P S 63 63 2.0E-4 missense 0.901 possibly damaging 0.04 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35790745 14q11.2 14 22168841G> A null V I 64 64 0.02935 missense 0.076 benign 0.32 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs780290859 14q11.2 14 22168854T> A null I K 68 68 missense 0.039 benign 0.19 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs750556035 14q11.2 14 22168853A> C null I L 68 68 missense 0.01 benign 0.49 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs780290859 14q11.2 14 22168854T> C null I T 68 68 missense 0.018 benign 0.72 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs750556035 14q11.2 14 22168853A> G null I V 68 68 missense 0.021 benign 1.0 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1231602104 14q11.2 14 22168857T> A null L * 69 69 stop gained 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed rs1336789975 14q11.2 14 22168862A> C null K Q 71 71 missense 0.797 possibly damaging 0.03 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1284111811 14q11.2 14 22168863A> C null K T 71 71 missense 0.814 possibly damaging 0.04 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ESP,ExAC,TOPMed,gnomAD rs375841140 14q11.2 14 22168865G> A null G S 72 72 missense 0.172 benign 0.28 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ESP,ExAC,TOPMed,gnomAD rs369107097 14q11.2 14 22168869G> A null G E 73 73 missense 0.909 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs777436682 14q11.2 14 22168868G> A null G R 73 73 missense 0.933 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC rs771051994 14q11.2 14 22168872A> G null E G 74 74 missense 0.984 probably damaging 0.03 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,NCI-TCGA,TOPMed,gnomAD rs761659730 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22168875A> T null Q L 75 75 missense 0.0 benign 0.44 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34504645 14q11.2 14 22168878A> T null K M 76 76 0.05671 missense 0.688 possibly damaging 0.03 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 Ensembl rs386775476 14q11.2 14 22168878_22168880delinsTG C null K MR 76 77 missense 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs111804729 14q11.2 14 22168879G> C null K N 76 76 missense 0.953 probably damaging 0.01 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34544774 14q11.2 14 22168880G> C null G R 77 77 0.05671 missense 0.0 benign 0.54 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34544774 14q11.2 14 22168880G> A null G S 77 77 0.05671 missense 0.0 benign 1.0 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11157435 14q11.2 14 22168888C> A null D E 79 79 0.3213 missense 0.015 benign 1.0 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs764451066 14q11.2 14 22168889A> G null K E 80 80 missense 0.464 possibly damaging 0.07 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes rs144986447 14q11.2 14 22168891A> T null K N 80 80 2.0E-4 missense 0.614 possibly damaging 0.01 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs749009308 14q11.2 14 22168894A> G null I M 81 81 missense 0.198 benign 0.1 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1166831303 14q11.2 14 22168893T> C null I T 81 81 missense 0.198 benign 0.04 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ESP,ExAC,TOPMed,gnomAD rs374012958 14q11.2 14 22168896C> T null S F 82 82 missense 0.005 benign 0.01 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1418911619 14q11.2 14 22168895T> A null S T 82 82 missense 0.001 benign 1.0 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185594102 14q11.2 14 22168912A> T null E D 87 87 3.99E-4 missense 0.618 possibly damaging 0.09 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 Ensembl rs964152251 14q11.2 14 22168913A> T null K * 88 88 stop gained 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs1377565673 14q11.2 14 22168915A> C null K N 88 88 missense 0.29 benign 0.23 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 NCI-TCGA rs770916078 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 14q11.2 14 22168911de l null K null 89 89 frameshift 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs375622853 14q11.2 14 22168918G> C null K N 89 89 missense 0.931 probably damaging 0.04 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs375622853 14q11.2 14 22168918G> T null K N 89 89 missense 0.931 probably damaging 0.04 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs750466639 14q11.2 14 22168916A> C null K Q 89 89 missense 0.908 possibly damaging 0.04 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 Ensembl rs76744925 14q11.2 14 22168917A> G null K R 89 89 missense 0.048 benign 1.0 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs780142663 14q11.2 14 22168922C> G null Q E 91 91 missense 0.458 possibly damaging 0.12 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs751742228 14q11.2 14 22168923A> G null Q R 91 91 missense 0.775 possibly damaging 0.04 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs755171258 14q11.2 14 22168927C> G null S R 92 92 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1353396339 14q11.2 14 22168929C> G null S C 93 93 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs770962270 14q11.2 14 22168936C> G null Y * 95 95 stop gained 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs770962270 14q11.2 14 22168936C> A null Y * 95 95 stop gained 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs777614167 14q11.2 14 22168935A> G null Y C 95 95 missense 0.385 benign 0.12 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,TOPMed,gnomAD rs777614167 14q11.2 14 22168935A> C null Y S 95 95 missense 0.0 benign 0.35 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ESP,ExAC,TOPMed,gnomAD rs369444741 14q11.2 14 22168941C> A null T K 97 97 missense 0.569 possibly damaging 0.02 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ESP,ExAC,TOPMed,gnomAD rs369444741 14q11.2 14 22168941C> T null T M 97 97 missense 0.213 benign 0.1 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs915245341 14q11.2 14 22168947C> T null S F 99 99 missense 0.288 benign 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed rs1408310659 14q11.2 14 22168950A> G null Q R 100 100 missense 0.221 benign 0.14 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ExAC,TOPMed,gnomAD rs538067638 14q11.2 14 22168953T> G null L R 101 101 9.98E-4 missense 0.536 possibly damaging 0.1 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1397047980 14q11.2 14 22168959A> T null Y F 103 103 missense 0.429 benign 0.01 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs746614285 14q11.2 14 22168958T> C null Y H 103 103 missense 0.001 benign 0.33 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1280306210 14q11.2 14 22168961T> C null S P 104 104 missense 0.865 possibly damaging 0.1 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1172019330 14q11.2 14 22168965G> A null G E 105 105 missense 0.945 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs868299066 14q11.2 14 22168968C> A null T N 106 106 missense 0.975 probably damaging 0.04 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 TOPMed,gnomAD rs868299066 14q11.2 14 22168968C> G null T S 106 106 missense 0.73 possibly damaging 0.12 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 gnomAD rs1327428565 14q11.2 14 22168972C> A null Y * 107 107 stop gained 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ExAC,TOPMed,gnomAD rs116511738 14q11.2 14 22168970T> C null Y H 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ExAC,TOPMed,gnomAD rs116511738 14q11.2 14 22168970T> A null Y N 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs777047160 14q11.2 14 22168976T> C null C R 109 109 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs190194261 14q11.2 14 22168977G> A null C Y 109 109 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC,gnomAD rs773673314 14q11.2 14 22168980G> A null G D 110 110 missense 0.843 possibly damaging 0.0 deleterious 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182435457 14q11.2 14 22168979G> A null G S 110 110 7.99E-4 missense 0.169 benign 0.08 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC rs763458825 14q11.2 14 22168982A> T null T S 111 111 missense 0.001 benign 0.32 tolerated 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 Ensembl rs866489718 14q11.2 14 22168985G> T null E * 112 112 stop gained 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC rs767820177 14q11.2 14 22168983_22168984insTCACTCAAGAAACCAGTGGCTCTAGGTTGACCTTTGGGG A null E H 112 112 stop gained 0 A0A087WSZ9 TRAV30 T cell receptor alpha variable 30 ExAC rs776637690 14q11.2 14 22168987_22168988insTCCCGGAGCCAATAGTAAGCT G null * S 113 113 stop gained 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1463819084 2q24.2 2 159798194A> T null L H 2 2 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1461221613 2q24.2 2 159798191C> G null R P 3 3 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs747230826 2q24.2 2 159798192G> A null R W 3 3 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1423936046 2q24.2 2 159798188G> T null A D 4 4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1423936046 2q24.2 2 159798188G> A null A V 4 4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ExAC,TOPMed,gnomAD rs374135673 2q24.2 2 159798186C> T null A T 5 5 3.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1458502923 2q24.2 2 159798180G> C null P A 7 7 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ExAC,TOPMed,gnomAD rs552282127 2q24.2 2 159798179G> A null P L 7 7 3.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ExAC,TOPMed,gnomAD rs552282127 2q24.2 2 159798179G> C null P R 7 7 3.99E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs746290027 2q24.2 2 159798176G> T null A E 8 8 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs746290027 2q24.2 2 159798176G> C null A G 8 8 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen Ensembl rs914552369 2q24.2 2 159798177C> T null A T 8 8 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1328729410 2q24.2 2 159798171G> T null L M 10 10 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs779390887 2q24.2 2 159798164G> T null P Q 12 12 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs779390887 2q24.2 2 159798164G> C null P R 12 12 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs945518173 2q24.2 2 159798165G> A null P S 12 12 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1306389463 2q24.2 2 159798155C> G null G A 15 15 missense 0.0 unknown 0.29 tolerated - low confidence 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1327264575 2q24.2 2 159798153G> A null L F 16 16 missense 0.0 unknown 0.08 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1302512582 2q24.2 2 159798152A> C null L R 16 16 missense 0.0 unknown 0.15 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1167458227 2q24.2 2 159798150C> T null A T 17 17 missense 0.0 unknown 0.05 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs867228181 2q24.2 2 159798149G> A null A V 17 17 missense 0.0 unknown 0.06 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1423070111 2q24.2 2 159798147C> T null A T 18 18 missense 0.0 unknown 0.03 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs757802841 2q24.2 2 159798146G> A null A V 18 18 missense 0.0 unknown 0.01 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs755125480 2q24.2 2 159780998C> T null G E 23 23 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs766645940 2q24.2 2 159780995G> A null A V 24 24 missense 0.996 probably damaging 0.07 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs773662568 2q24.2 2 159780991G> T null D E 25 25 missense 0.994 probably damaging 0.23 tolerated 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375356281 2q24.2 2 159780990T> A null M L 26 26 2.0E-4 missense 0.005 benign 0.74 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs762401482 2q24.2 2 159780989A> G null M T 26 26 missense 0.059 benign 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375356281 2q24.2 2 159780990T> C null M V 26 26 2.0E-4 missense 0.027 benign 0.18 tolerated 0 A0A087WT00 CD302 CD302 antigen Ensembl rs1560044924 2q24.2 2 159780985T> C null I M 27 27 missense 0.861 possibly damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1167809603 2q24.2 2 159780984T> C null S G 28 28 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs776215920 2q24.2 2 159780980A> G null I T 29 29 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs768298768 2q24.2 2 159780978G> T null H N 30 30 missense 0.294 benign 0.27 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1442763417 2q24.2 2 159780975T> C null N D 31 31 missense 0.079 benign 0.14 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs746579440 2q24.2 2 159780969C> T null E K 33 33 missense 0.923 probably damaging 0.04 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs1404084902 2q24.2 2 159780966C> T null E K 34 34 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1460035079 2q24.2 2 159780961A> C null N K 35 35 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC rs775277205 2q24.2 2 159780963T> A null N Y 35 35 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs771797720 2q24.2 2 159780960C> T null A T 36 36 missense 0.06 benign 0.68 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1429596865 2q24.2 2 159780955A> T null F L 37 37 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1173245776 2q24.2 2 159780957A> C null F V 37 37 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ESP,TOPMed rs149105310 2q24.2 2 159780952T> C null I M 38 38 missense 0.891 possibly damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs745629007 2q24.2 2 159780944G> A null T I 41 41 missense 0.011 benign 0.36 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs1192188495 2q24.2 2 159780941A> T null L * 42 42 stop gained 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ExAC,TOPMed,gnomAD rs574527522 2q24.2 2 159780939T> C null K E 43 43 3.99E-4 missense 0.072 benign 0.11 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1195433421 2q24.2 2 159780938T> G null K T 43 43 missense 0.875 possibly damaging 0.04 deleterious 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1016378486 2q24.2 2 159780932T> G null Q P 45 45 missense 0.782 possibly damaging 0.14 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1016378486 2q24.2 2 159780932T> C null Q R 45 45 missense 0.011 benign 0.88 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs757101109 2q24.2 2 159780927T> C null K E 47 47 missense 0.387 benign 0.01 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs781190659 2q24.2 2 159780916A> T null D E 50 50 missense 0.017 benign 0.62 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs749226410 2q24.2 2 159780917T> C null D G 50 50 missense 0.053 benign 0.23 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs1301104776 2q24.2 2 159780911A> G null I T 52 52 missense 0.885 possibly damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs755037680 2q24.2 2 159780908A> G null L P 53 53 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed rs991948170 2q24.2 2 159780899A> G null M T 56 56 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs751700953 2q24.2 2 159780893T> A null Y F 58 58 missense 0.03 benign 0.59 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs576361885 2q24.2 2 159780888T> C null T A 60 60 missense 0.426 benign 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs1418897439 2q24.2 2 159780887G> A null T I 60 60 missense 0.262 benign 0.02 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs1418897439 2q24.2 2 159780887G> C null T R 60 60 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ESP,ExAC,TOPMed,gnomAD rs371554523 2q24.2 2 159780883A> C null D E 61 61 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs749138371 2q24.2 2 159780175G> A null A V 63 63 missense 0.459 possibly damaging 0.15 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs756081226 2q24.2 2 159780172C> G null S T 64 64 missense 0.02 benign 0.54 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs992626516 2q24.2 2 159780169A> C null F C 65 65 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1293124281 2q24.2 2 159780167T> C null K E 66 66 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs747066009 2q24.2 2 159780162C> A null W C 67 67 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1454785525 2q24.2 2 159780160A> T null F Y 68 68 missense 0.026 benign 0.34 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs780202336 2q24.2 2 159780157T> A null D V 69 69 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs758507302 2q24.2 2 159780155T> G null N H 70 70 missense 0.019 benign 0.1 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs750674228 2q24.2 2 159780149T> C null N D 72 72 missense 0.041 benign 0.4 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1352505150 2q24.2 2 159780146T> C null M V 73 73 missense 0.007 benign 0.58 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1272454558 2q24.2 2 159780142G> A null T I 74 74 missense 0.988 probably damaging 0.01 deleterious 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1232299207 2q24.2 2 159780143T> G null T P 74 74 missense 0.988 probably damaging 0.02 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1048187484 2q24.2 2 159780136T> C null D G 76 76 missense 0.011 benign 0.13 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs779065808 2q24.2 2 159780125C> A null D Y 80 80 missense 0.891 possibly damaging 0.06 tolerated 0 A0A087WT00 CD302 CD302 antigen ESP,ExAC,gnomAD rs141287355 2q24.2 2 159780121T> C null Q R 81 81 missense 0.019 benign 0.16 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs755032369 2q24.2 2 159780117A> T null D E 82 82 missense 0.005 benign 1.0 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs754295690 2q24.2 2 159780119C> T null D N 82 82 missense 0.012 benign 0.11 tolerated 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ExAC,TOPMed,gnomAD rs201544040 2q24.2 2 159780111A> C null D E 84 84 2.0E-4 missense 0.001 benign 0.81 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1186333048 2q24.2 2 159780112T> C null D G 84 84 missense 0.0 benign 0.94 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed rs745776472 2q24.2 2 159780108C> A null E D 85 85 missense 0.017 benign 0.11 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1459458034 2q24.2 2 159780100A> G null V A 88 88 missense 0.061 benign 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs920661426 2q24.2 2 159780098C> T null D N 89 89 missense 0.399 benign 0.24 tolerated 0 A0A087WT00 CD302 CD302 antigen Ensembl rs1560044237 2q24.2 2 159780080G> A null H Y 95 95 missense 0.029 benign 0.15 tolerated 0 A0A087WT00 CD302 CD302 antigen Ensembl rs867982203 2q24.2 2 159780072C> A null K N 97 97 missense 0.747 possibly damaging 0.23 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs759052063 2q24.2 2 159780070G> C null T R 98 98 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs774039621 cosmic curated [Cosmic]: lung cosmic_study:417 2q24.2 2 159780061C> T null W * 101 101 missense 1 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs973481165 2q24.2 2 159780062A> C null W G 101 101 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs774039621 2q24.2 2 159780061C> A null W L 101 101 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs973481165 2q24.2 2 159780062A> T null W R 101 101 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs762701332 2q24.2 2 159780057T> G null K N 102 102 missense 0.267 benign 0.01 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs770556320 2q24.2 2 159780059T> G null K Q 102 102 missense 0.747 possibly damaging 0.02 deleterious 0 A0A087WT00 CD302 CD302 antigen Ensembl rs1034225482 2q24.2 2 159780052C> T null G E 104 104 missense 0.062 benign 0.09 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1214932431 2q24.2 2 159780053C> T null G R 104 104 missense 0.759 possibly damaging 0.06 tolerated 0 A0A087WT00 CD302 CD302 antigen ESP,TOPMed,gnomAD rs368739999 2q24.2 2 159780050T> C null N D 105 105 missense 0.012 benign 0.17 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1248379295 2q24.2 2 159780049T> C null N S 105 105 missense 0.02 benign 0.94 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1231559070 2q24.2 2 159780047A> C null C G 106 106 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs773037045 2q24.2 2 159780042T> G null E D 107 107 missense 0.106 benign 0.17 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs981055171 2q24.2 2 159780034G> A null S F 110 110 missense 0.044 benign 0.71 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs916041766 2q24.2 2 159780026C> T null G R 113 113 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1338105739 2q24.2 2 159780022G> C null T R 114 114 missense 0.805 possibly damaging 0.01 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs769667213 2q24.2 2 159780016C> T null C Y 116 116 missense 0.868 possibly damaging 0.05 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed rs992967359 2q24.2 2 159780014T> C null K E 117 117 missense 0.756 possibly damaging 0.41 tolerated 0 A0A087WT00 CD302 CD302 antigen ESP,TOPMed rs375428874 2q24.2 2 159780013T> C null K R 117 117 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs748113088 2q24.2 2 159780008C> T null A T 119 119 missense 0.267 benign 0.11 tolerated 0 A0A087WT00 CD302 CD302 antigen Ensembl rs750947724 2q24.2 2 159777957G> T null Y * 122 122 stop gained 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs778882092 2q24.2 2 159777946T> G null Y S 126 126 missense 0.098 benign 0.15 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs749527664 2q24.2 2 159777941A> C null S A 128 128 missense 0.452 possibly damaging 0.19 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs749527664 2q24.2 2 159777941A> G null S P 128 128 missense 0.036 benign 0.39 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1244946462 2q24.2 2 159777938C> T null D N 129 129 missense 0.045 benign 0.09 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs774423733 2q24.2 2 159772049G> C null N K 130 130 missense 0.03 benign 0.48 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1452130022 2q24.2 2 159772047T> C null H R 131 131 missense 0.007 benign 0.43 tolerated 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ExAC,gnomAD rs555202238 2q24.2 2 159772039T> G null I L 134 134 2.0E-4 missense 0.124 benign 0.4 tolerated 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ExAC,gnomAD rs555202238 2q24.2 2 159772039T> C null I V 134 134 2.0E-4 missense 0.017 benign 0.18 tolerated 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,TOPMed rs534110307 2q24.2 2 159772032G> T null A E 136 136 2.0E-4 missense 0.875 possibly damaging 0.01 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1183727720 2q24.2 2 159772027C> T null V M 138 138 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs769285284 2q24.2 2 159772023A> G null I T 139 139 missense 0.098 benign 0.05 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1439326493 2q24.2 2 159772018T> C null S G 141 141 missense 0.017 benign 0.15 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs552428149 2q24.2 2 159772014G> A null T M 142 142 missense 0.26 benign 0.03 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs749801280 2q24.2 2 159772004C> G null L F 145 145 missense 0.222 benign 0.03 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs748523519 2q24.2 2 159772002G> C null T R 146 146 missense 0.726 possibly damaging 0.02 deleterious 0 A0A087WT00 CD302 CD302 antigen gnomAD rs532341650 2q24.2 2 159772000C> T null V I 147 147 missense 0.044 benign 0.72 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs1010143446 2q24.2 2 159771988T> C null I V 151 151 missense 0.007 benign 0.96 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs781431626 2q24.2 2 159771975A> G null L P 155 155 missense 0.936 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs781431626 2q24.2 2 159771975A> C null L R 155 155 missense 0.913 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen Ensembl rs985587944 2q24.2 2 159771973A> C null Y D 156 156 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ExAC,TOPMed,gnomAD rs200348184 2q24.2 2 159771966T> G null K T 158 158 2.0E-4 missense 0.253 benign 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs747473972 2q24.2 2 159771958C> G null D H 161 161 missense 0.012 benign 0.57 tolerated 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34068933 2q24.2 2 159771952G> A null R C 163 163 0.05212 missense 0.707 possibly damaging 0.05 tolerated 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34068933 2q24.2 2 159771952G> C null R G 163 163 0.05212 missense 0.0 benign 1.0 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs756882454 2q24.2 2 159771951C> T null R H 163 163 missense 0.015 benign 0.17 tolerated 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34068933 2q24.2 2 159771952G> T null R S 163 163 0.05212 missense 0.007 benign 0.47 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1349959028 2q24.2 2 159771949A> G null F L 164 164 missense 0.071 benign 0.84 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs753633358 2q24.2 2 159771946T> C null T A 165 165 missense 0.026 benign 0.47 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs760605320 2q24.2 2 159771939A> G null V A 167 167 missense 0.005 benign 0.67 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1450408375 2q24.2 2 159771933G> C null S * 169 169 stop gained 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs775552908 2q24.2 2 159771931T> C null T A 170 170 missense 0.011 benign 0.45 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1191970221 2q24.2 2 159771930G> C null T S 170 170 missense 0.02 benign 0.72 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs1014685682 2q24.2 2 159771924G> A null P L 172 172 missense 0.029 benign 0.01 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs763092041 2q24.2 2 159771925G> A null P S 172 172 missense 0.02 benign 0.32 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs763092041 2q24.2 2 159771925G> T null P T 172 172 missense 0.049 benign 0.15 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1276601356 2q24.2 2 159771918G> A null S L 174 174 missense 0.061 benign 0.3 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1305725061 2q24.2 2 159771919A> T null S T 174 174 missense 0.855 possibly damaging 0.31 tolerated 0 A0A087WT00 CD302 CD302 antigen 1000Genomes,ESP,ExAC,TOPMed rs144807087 2q24.2 2 159771916G> C null P A 175 175 0.00599 missense 0.702 possibly damaging 0.01 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1416682345 cosmic curated [Cosmic]: large_intestine pubmed:22810696,cosmic_study:376 2q24.2 2 159771913A> G null Y H 176 176 missense 0.132 benign 0.16 tolerated 1 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs748348850 2q24.2 2 159771910T> C null N D 177 177 missense 0.012 benign 0.38 tolerated 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs748348850 2q24.2 2 159771910T> G null N H 177 177 missense 0.847 possibly damaging 0.01 deleterious 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1411313593 2q24.2 2 159771909T> C null N S 177 177 missense 0.009 benign 0.56 tolerated 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1297130219 2q24.2 2 159771902G> C null D E 179 179 missense 0.769 possibly damaging 0.42 tolerated 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1443980168 2q24.2 2 159771904C> T null D N 179 179 missense 0.222 benign 0.02 deleterious 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1369251423 2q24.2 2 159771900C> T null C Y 180 180 missense 0.978 probably damaging 0.01 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs1170969088 2q24.2 2 159771894A> C null L W 182 182 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1232001859 2q24.2 2 159771886C> G null G R 185 185 missense 0.005 benign 0.04 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,TOPMed,gnomAD rs776985882 2q24.2 2 159771882T> C null E G 186 186 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WT00 CD302 CD302 antigen Ensembl rs770078065 2q24.2 2 159771875A> C null N K 188 188 missense 0.559 possibly damaging 0.02 deleterious 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs768913209 2q24.2 2 159771869A> C null Y * 190 190 stop gained 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs746063946 2q24.2 2 159771867G> A null P L 191 191 missense 0.098 benign 0.27 tolerated - low confidence 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs746063946 2q24.2 2 159771867G> C null P R 191 191 missense 0.133 benign 0.45 tolerated - low confidence 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs747475215 2q24.2 2 159771868G> A null P S 191 191 missense 0.003 benign 0.67 tolerated - low confidence 0 A0A087WT00 CD302 CD302 antigen TOPMed rs1257403350 2q24.2 2 159771864A> G null V A 192 192 missense 0.065 benign 0.1 tolerated - low confidence 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs780509519 2q24.2 2 159771862G> C null Q E 193 193 missense 0.106 benign 0.05 tolerated - low confidence 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs780509519 2q24.2 2 159771862G> T null Q K 193 193 missense 0.615 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1176693643 2q24.2 2 159771858A> G null F S 194 194 missense 0.642 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1480065076 2q24.2 2 159771854G> C null D E 195 195 missense 0.045 benign 0.06 tolerated - low confidence 0 A0A087WT00 CD302 CD302 antigen TOPMed,gnomAD rs773656295 2q24.2 2 159771856C> G null D H 195 195 missense 0.935 probably damaging 0.0 deleterious - low confidence 0 A0A087WT00 CD302 CD302 antigen Ensembl rs776775288 2q24.2 2 159771853du p null * L 196 196 stop lost 0 A0A087WT00 CD302 CD302 antigen ExAC,gnomAD rs772617296 2q24.2 2 159771853A> G null * Q 196 196 stop lost 0 A0A087WT00 CD302 CD302 antigen gnomAD rs1346939051 2q24.2 2 159771851T> G null * Y 196 196 stop lost 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61738724 14q11.2 14 22148095G> T null V F 2 2 0.002396 missense 0.003 benign 0.01 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61738724 14q11.2 14 22148095G> A null V I 2 2 0.002396 missense 0.053 benign 0.11 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1266961728 14q11.2 14 22148101A> G null K E 4 4 missense 0.007 benign 1.0 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1316719456 14q11.2 14 22148108C> A null S Y 6 6 missense 0.021 benign 0.11 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ESP,ExAC,TOPMed,gnomAD rs376294987 14q11.2 14 22148110G> C null V L 7 7 missense 0.009 benign 0.57 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ESP,ExAC,TOPMed,gnomAD rs376294987 14q11.2 14 22148110G> A null V M 7 7 missense 0.132 benign 0.02 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ESP,ExAC,TOPMed,gnomAD rs372081841 14q11.2 14 22148114C> G null S C 8 8 missense 0.003 benign 0.19 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1482799945 14q11.2 14 22148116A> C null I L 9 9 missense 0.269 benign 0.14 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1482799945 14q11.2 14 22148116A> G null I V 9 9 missense 0.028 benign 0.26 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1254210464 14q11.2 14 22148120T> A null L H 10 10 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1182720199 14q11.2 14 22148119C> G null L V 10 10 missense 0.158 benign 0.05 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1471762413 14q11.2 14 22148123G> A null W * 11 11 stop gained 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1388049316 14q11.2 14 22148127T> G null I M 12 12 missense 0.046 benign 0.71 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,TOPMed,gnomAD rs759834552 14q11.2 14 22148126T> C null I T 12 12 missense 0.075 benign 0.21 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 Ensembl rs866837754 14q11.2 14 22148135C> A null A E 15 15 missense 0.395 benign 0.05 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1229096181 14q11.2 14 22148353G> T null W C 16 16 missense 0.039 benign 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ExAC,gnomAD rs565877829 14q11.2 14 22148352G> C null W S 16 16 2.0E-4 missense 0.083 benign 0.02 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,TOPMed,gnomAD rs778472452 14q11.2 14 22148354G> A null V M 17 17 missense 0.108 benign 0.13 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1469756219 14q11.2 14 22148358G> A null S N 18 18 missense 0.02 benign 0.61 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1428125887 14q11.2 14 22148359C> A null S R 18 18 missense 0.613 possibly damaging 0.27 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372712498 14q11.2 14 22148372G> T null E * 23 23 0.004193 stop gained 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1219399088 14q11.2 14 22148373A> C null E A 23 23 missense 0.255 benign 0.22 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1219399088 14q11.2 14 22148373A> G null E G 23 23 missense 0.327 benign 0.11 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372712498 14q11.2 14 22148372G> A null E K 23 23 0.004193 missense 0.012 benign 0.61 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372712498 14q11.2 14 22148372G> C null E Q 23 23 0.004193 missense 0.047 benign 0.37 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1157028746 14q11.2 14 22148380C> G null S R 25 25 missense 0.127 benign 0.27 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs929210272 14q11.2 14 22148388T> G null F C 28 28 missense 0.969 probably damaging 0.1 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1052330598 14q11.2 14 22148391T> C null L P 29 29 missense 0.918 probably damaging 0.01 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed,gnomAD rs1465694091 14q11.2 14 22148394G> T null S I 30 30 missense 0.645 possibly damaging 0.4 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1052098983 14q11.2 14 22148397T> A null I N 31 31 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,gnomAD rs761657266 14q11.2 14 22148404G> C null E D 33 33 missense 0.981 probably damaging 0.01 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,gnomAD rs776409818 14q11.2 14 22148403A> G null E G 33 33 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1275943305 14q11.2 14 22148406G> C null G A 34 34 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1275943305 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22148406G> A null G E 34 34 missense 0.929 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1275943305 14q11.2 14 22148406G> T null G V 34 34 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs553881797 14q11.2 14 22148409A> G null E G 35 35 missense 0.188 benign 0.06 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs943189995 14q11.2 14 22148421T> C null V A 39 39 missense 0.0 benign 0.57 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,TOPMed,gnomAD rs762966196 14q11.2 14 22148420G> C null V L 39 39 missense 0.0 benign 0.49 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ESP,ExAC,TOPMed,gnomAD rs369964445 14q11.2 14 22148424A> G null Y C 40 40 missense 0.957 probably damaging 0.17 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1168509431 14q11.2 14 22148426T> G null C G 41 41 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed,gnomAD rs1322456127 14q11.2 14 22148430A> G null N S 42 42 missense 0.332 benign 0.28 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,TOPMed,gnomAD rs751083483 14q11.2 14 22148436C> T null S L 44 44 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC rs781047793 14q11.2 14 22148441G> T null V F 46 46 missense 0.009 benign 0.14 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC rs781047793 14q11.2 14 22148441G> C null V L 46 46 missense 0.003 benign 0.31 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,NCI-TCGA,gnomAD rs756587461 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22148448C> T null S F 48 48 missense 0.096 benign 0.12 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs904236109 14q11.2 14 22148456C> T null Q * 51 51 stop gained 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1358687153 14q11.2 14 22148457A> G null Q R 51 51 missense 0.038 benign 0.3 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 Ensembl rs867580238 14q11.2 14 22148460G> A null W * 52 52 stop gained 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,gnomAD rs778312867 14q11.2 14 22148459T> C null W R 52 52 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,gnomAD rs749710922 14q11.2 14 22148464C> G null Y * 53 53 stop gained 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,gnomAD rs771482828 14q11.2 14 22148465A> G null R G 54 54 missense 0.604 possibly damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,gnomAD rs778794134 14q11.2 14 22148467A> T null R S 54 54 missense 0.528 possibly damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1440049240 14q11.2 14 22148474C> T null P S 57 57 missense 0.833 possibly damaging 0.07 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,gnomAD rs746027594 14q11.2 14 22148477G> T null G W 58 58 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1239616534 14q11.2 14 22148481A> G null E G 59 59 missense 0.021 benign 0.3 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1188625843 14q11.2 14 22148480G> A null E K 59 59 missense 0.7 possibly damaging 0.37 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,NCI-TCGA,gnomAD rs775741319 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22148483G> T null G C 60 60 missense 0.235 benign 0.09 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,gnomAD rs775741319 14q11.2 14 22148483G> A null G S 60 60 missense 0.209 benign 0.29 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs184648604 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22148486C> T null P S 61 61 5.99E-4 missense 0.935 probably damaging 0.01 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1457278099 14q11.2 14 22148492C> T null L F 63 63 missense 0.084 benign 0.65 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 Ensembl rs207474504 14q11.2 14 22148495C> A null L M 64 64 missense 0.98 probably damaging 0.06 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 Ensembl rs1388297322 14q11.2 14 22148496T> C null L P 64 64 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,gnomAD rs762729120 14q11.2 14 22148498G> A null V M 65 65 missense 0.007 benign 1.0 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,TOPMed rs766403832 14q11.2 14 22148502C> T null T I 66 66 missense 0.003 benign 0.56 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375575502 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22148511C> T null T M 69 69 2.0E-4 missense 0.398 benign 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs758614970 14q11.2 14 22148513G> A null G S 70 70 missense 0.036 benign 0.44 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1242359447 14q11.2 14 22148526A> G null K R 74 74 missense 0.055 benign 0.07 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1329491183 14q11.2 14 22148534A> G null K E 77 77 missense 0.039 benign 1.0 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1445622193 14q11.2 14 22148541T> G null L R 79 79 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,gnomAD rs755853100 14q11.2 14 22148544C> T null T I 80 80 missense 0.861 possibly damaging 0.08 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,gnomAD rs755853100 14q11.2 14 22148544C> A null T N 80 80 missense 0.923 probably damaging 0.03 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,TOPMed,gnomAD rs779534726 14q11.2 14 22148560T> G null D E 85 85 missense 0.0 benign 1.0 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1350544080 14q11.2 14 22148562C> T null A V 86 86 missense 0.441 benign 0.23 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs970367657 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22148565G> C null R T 87 87 missense 0.979 probably damaging 0.03 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ESP,ExAC,TOPMed,gnomAD rs372981927 14q11.2 14 22148567A> T null K * 88 88 stop gained 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ESP,ExAC,TOPMed,gnomAD rs372981927 14q11.2 14 22148567A> G null K E 88 88 missense 0.876 possibly damaging 0.01 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ExAC,TOPMed,gnomAD rs543688160 14q11.2 14 22148571A> G null D G 89 89 0.002796 missense 0.921 probably damaging 0.22 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ExAC,TOPMed,gnomAD rs543688160 14q11.2 14 22148571A> T null D V 89 89 0.002796 missense 0.971 probably damaging 0.03 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,TOPMed,gnomAD rs768866890 14q11.2 14 22148574G> A null S N 90 90 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 TOPMed rs1456852760 14q11.2 14 22148577C> T null S F 91 91 missense 0.103 benign 1.0 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1256333837 14q11.2 14 22148576T> C null S P 91 91 missense 0.982 probably damaging 0.02 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ESP,NCI-TCGA,TOPMed,gnomAD rs374728616 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22148582C> T null H Y 93 93 missense 0.645 possibly damaging 0.86 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1409134149 14q11.2 14 22148585A> G null I V 94 94 missense 0.394 benign 0.04 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ExAC,TOPMed,gnomAD rs189720977 14q11.2 14 22148592C> T null A V 96 96 0.002196 missense 0.05 benign 0.18 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1404353541 14q11.2 14 22148595C> T null A V 97 97 missense 0.015 benign 0.21 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,TOPMed,gnomAD rs774384770 14q11.2 14 22148597C> A null Q K 98 98 missense 0.069 benign 0.04 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1419869010 14q11.2 14 22148598A> T null Q L 98 98 missense 0.318 benign 0.01 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34355797 14q11.2 14 22148600A> C null T P 99 99 0.09026 missense 0.0 benign 1.0 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34355797 14q11.2 14 22148600A> T null T S 99 99 0.09026 missense 0.007 benign 0.63 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1411938964 14q11.2 14 22148604G> A null G D 100 100 missense 0.017 benign 0.29 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1286463859 14q11.2 14 22148607A> G null D G 101 101 missense 0.997 probably damaging 0.05 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ESP,ExAC,gnomAD rs377449173 14q11.2 14 22148610C> T null T I 102 102 missense 0.111 benign 0.25 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1463302504 14q11.2 14 22148609A> T null T S 102 102 missense 0.03 benign 1.0 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1234138784 14q11.2 14 22148612G> A null G S 103 103 missense 0.906 possibly damaging 0.02 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1277084719 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22148615C> T null L F 104 104 missense 0.005 benign 0.11 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1400123978 14q11.2 14 22148616T> C null L P 104 104 missense 0.408 benign 0.03 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 ExAC,TOPMed,gnomAD rs763908630 14q11.2 14 22148621C> T null L F 106 106 missense 0.01 benign 1.0 tolerated 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 gnomAD rs1483139713 14q11.2 14 22148622T> C null L P 106 106 missense 0.916 probably damaging 0.0 deleterious 0 A0A087WT01 TRAV27 T cell receptor alpha variable 27 Ensembl rs1014203212 14q11.2 14 22148628C> T null A V 108 108 missense 0.728 possibly damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ESP,ExAC,TOPMed,gnomAD rs375726305 14q11.2 14 21941189C> G null N K 2 2 missense 0.012 benign 0.48 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ESP,ExAC,TOPMed,gnomAD rs375726305 14q11.2 14 21941189C> A null N K 2 2 missense 0.012 benign 0.48 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed,gnomAD rs202023849 14q11.2 14 21941191A> G null Y C 3 3 missense 0.0 benign 0.25 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs760466695 14q11.2 14 21941190T> A null Y N 3 3 missense 0.001 benign 0.3 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1484145342 14q11.2 14 21941197C> T null P L 5 5 missense 0.315 benign 0.09 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs757654424 14q11.2 14 21941200G> A null G D 6 6 missense 0.222 benign 0.08 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs754239727 14q11.2 14 21941199G> A null G S 6 6 missense 0.331 benign 0.07 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 Ensembl rs1555303251 14q11.2 14 21941211C> G null L V 10 10 missense 0.0 benign 1.0 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs750937294 14q11.2 14 21941217C> A null L I 12 12 missense 0.482 possibly damaging 0.19 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1288159581 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21941366G> A null G E 16 16 missense 0.315 benign 0.17 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1321426385 14q11.2 14 21941368A> G null R G 17 17 missense 0.003 benign 0.42 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs751653891 14q11.2 14 21941369G> A null R K 17 17 missense 0.007 benign 0.81 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed rs994983595 14q11.2 14 21941372C> G null T S 18 18 missense 0.06 benign 0.27 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs781442868 14q11.2 14 21941374C> T null R C 19 19 missense 0.003 benign 0.07 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs752910456 14q11.2 14 21941375G> A null R H 19 19 missense 0.0 benign 0.77 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2178779 14q11.2 14 21941380G> A null D N 21 21 0.4996 missense 0.105 benign 0.06 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs772145647 14q11.2 14 21941389A> T null T S 24 24 missense 0.121 benign 0.04 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs779659305 14q11.2 14 21941393A> C null Q P 25 25 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed rs1459240991 14q11.2 14 21941397G> A null M I 26 26 missense 0.022 benign 0.02 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs768325149 14q11.2 14 21941396T> C null M T 26 26 missense 0.003 benign 1.0 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs746546603 14q11.2 14 21941395A> G null M V 26 26 missense 0.013 benign 0.01 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ExAC,TOPMed,gnomAD rs546521222 14q11.2 14 21941398G> T null E * 27 27 3.99E-4 stop gained 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ExAC,TOPMed,gnomAD rs546521222 14q11.2 14 21941398G> A null E K 27 27 3.99E-4 missense 0.099 benign 0.14 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ExAC,TOPMed,gnomAD rs546521222 14q11.2 14 21941398G> C null E Q 27 27 3.99E-4 missense 0.068 benign 0.07 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs770190887 14q11.2 14 21941401G> A null G R 28 28 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1282581093 14q11.2 14 21941408T> G null V G 30 30 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1450467317 14q11.2 14 21941407G> A null V M 30 30 missense 0.596 possibly damaging 0.08 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181756197 14q11.2 14 21941411C> T null T I 31 31 0.001198 missense 0.169 benign 0.13 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1206345454 14q11.2 14 21941413C> A null L I 32 32 missense 0.149 benign 0.1 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1206345454 14q11.2 14 21941413C> G null L V 32 32 missense 0.149 benign 0.16 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1442427214 14q11.2 14 21941417C> T null S L 33 33 missense 0.018 benign 0.18 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ESP,gnomAD rs374700271 14q11.2 14 21941426C> A null A D 36 36 missense 0.017 benign 0.21 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs763393883 14q11.2 14 21941425G> A null A T 36 36 missense 0.03 benign 0.23 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ESP,gnomAD rs374700271 14q11.2 14 21941426C> T null A V 36 36 missense 0.454 possibly damaging 0.04 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17112412 14q11.2 14 21941429T> G null F C 37 37 0.02236 missense 0.753 possibly damaging 0.19 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186168931 14q11.2 14 21941428T> C null F L 37 37 3.99E-4 missense 0.001 benign 0.75 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs759588690 14q11.2 14 21941435C> A null T N 39 39 missense 0.114 benign 0.04 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs767551032 14q11.2 14 21941438T> A null I K 40 40 missense 0.877 possibly damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed,gnomAD rs974715783 14q11.2 14 21941437A> G null I V 40 40 missense 0.014 benign 0.63 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs752959848 14q11.2 14 21941442C> G null N K 41 41 missense 0.444 benign 0.01 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376824841 14q11.2 14 21941447C> A null T K 43 43 2.0E-4 missense 0.91 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376824841 14q11.2 14 21941447C> T null T M 43 43 2.0E-4 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs758369300 14q11.2 14 21941452A> C null T P 45 45 missense 0.007 benign 0.05 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed,gnomAD rs1405507005 14q11.2 14 21941462G> C null G A 48 48 missense 0.02 benign 0.5 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs768272112 14q11.2 14 21941466C> A null Y * 49 49 stop gained 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1228324770 14q11.2 14 21941465A> G null Y C 49 49 missense 0.967 probably damaging 0.07 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,NCI-TCGA,gnomAD rs747774716 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21941471C> T null S F 51 51 missense 0.005 benign 0.72 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs773580740 14q11.2 14 21941473C> A null L I 52 52 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs763342332 14q11.2 14 21941480G> A null W * 54 54 stop gained 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs771330759 14q11.2 14 21941481G> A null W * 54 54 stop gained 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1247167873 14q11.2 14 21941485G> A null V I 56 56 missense 0.105 benign 0.09 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs540517139 14q11.2 14 21941494C> T null P S 59 59 missense 0.523 possibly damaging 0.14 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1170870354 14q11.2 14 21941503G> A null G S 62 62 missense 0.652 possibly damaging 0.11 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1424796116 14q11.2 14 21941504G> T null G V 62 62 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1430637393 14q11.2 14 21941506C> A null L I 63 63 missense 0.075 benign 0.11 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs767562848 14q11.2 14 21941516T> A null L H 66 66 missense 0.791 possibly damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs760902366 14q11.2 14 21941519T> C null L P 67 67 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs760902366 14q11.2 14 21941519T> G null L R 67 67 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs764253070 14q11.2 14 21941522A> T null K I 68 68 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed,gnomAD rs1438054492 14q11.2 14 21941524G> T null A S 69 69 missense 0.668 possibly damaging 0.46 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed,gnomAD rs1438054492 14q11.2 14 21941524G> A null A T 69 69 missense 0.923 probably damaging 0.02 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs538342146 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21941528C> T null T M 70 70 2.0E-4 missense 0.01 benign 0.32 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed,gnomAD rs991310187 14q11.2 14 21941546G> A null G E 76 76 missense 0.22 benign 0.35 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs754880056 14q11.2 14 21941545G> C null G R 76 76 missense 0.315 benign 0.12 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs780699216 14q11.2 14 21941551A> G null N D 78 78 missense 0.099 benign 0.09 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed rs1299269607 14q11.2 14 21941557G> T null G C 80 80 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed rs1299269607 14q11.2 14 21941557G> A null G S 80 80 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1450103871 14q11.2 14 21941569A> G null T A 84 84 missense 0.222 benign 0.03 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs748995999 14q11.2 14 21941573A> G null Y C 85 85 missense 0.978 probably damaging 0.01 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ESP,ExAC,TOPMed,gnomAD rs200156031 14q11.2 14 21941572T> C null Y H 85 85 missense 0.967 probably damaging 0.2 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs774698587 14q11.2 14 21941575C> T null R C 86 86 missense 0.005 benign 0.16 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs774698587 14q11.2 14 21941575C> G null R G 86 86 missense 0.043 benign 0.44 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,NCI-TCGA,TOPMed,gnomAD rs758191408 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21941576G> A null R H 86 86 missense 0.001 benign 0.46 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs758191408 14q11.2 14 21941576G> T null R L 86 86 missense 0.003 benign 0.58 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed,gnomAD rs1408315620 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 14q11.2 14 21941581G> T null E * 88 88 stop gained 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 Ensembl rs1566357063 14q11.2 14 21941582A> C null E A 88 88 missense 0.034 benign 0.33 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 Ensembl rs903971417 14q11.2 14 21941583A> T null E D 88 88 missense 0.012 benign 0.39 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1299411955 14q11.2 14 21941585C> G null T S 89 89 missense 0.013 benign 1.0 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 Ensembl rs747017771 14q11.2 14 21941588C> T null T I 90 90 missense 0.8 possibly damaging 0.01 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs764285442 14q11.2 14 21941593T> A null F I 92 92 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1289000439 14q11.2 14 21941602G> A null E K 95 95 missense 0.007 benign 0.37 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed rs1054828131 14q11.2 14 21941603A> T null E V 95 95 missense 0.028 benign 0.06 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs766211177 14q11.2 14 21941609G> A null G D 97 97 missense 0.003 benign 0.19 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 gnomAD rs1210636342 14q11.2 14 21941608G> A null G S 97 97 missense 0.005 benign 0.41 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs766211177 14q11.2 14 21941609G> T null G V 97 97 missense 0.007 benign 0.06 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs370096885 14q11.2 14 21941617C> T null Q * 100 100 stop gained 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed rs898807242 14q11.2 14 21941620G> C null V L 101 101 missense 0.001 benign 0.32 tolerated 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed rs1323131448 14q11.2 14 21941627A> T null D V 103 103 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 Ensembl rs1566357122 14q11.2 14 21941630C> T null S L 104 104 missense 0.519 possibly damaging 0.03 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ExAC,TOPMed,gnomAD rs186180839 14q11.2 14 21941633C> A null A E 105 105 5.99E-4 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs180744312 14q11.2 14 21941632G> T null A S 105 105 3.99E-4 missense 0.834 possibly damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs186180839 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 21941633C> T null A V 105 105 5.99E-4 missense 0.329 benign 0.02 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 TOPMed rs1402367716 14q11.2 14 21941639A> G null Y C 107 107 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,gnomAD rs748869442 14q11.2 14 21941647G> A null A T 110 110 missense 0.978 probably damaging 0.02 deleterious 0 A0A087WT02 TRAV9-2 T cell receptor alpha variable 9-2 ExAC,TOPMed,gnomAD rs756911757 14q11.2 14 21941648C> T null A V 110 110 missense 0.534 possibly damaging 0.09 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1203768562 14q11.2 14 22123531G> T null R M 2 2 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1269248665 14q11.2 14 22123540C> T null A V 5 5 missense 0.01 benign 0.04 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1490782473 14q11.2 14 22123545G> A null V I 7 7 missense 0.046 benign 0.46 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs770799466 14q11.2 14 22123548A> C null T P 8 8 missense 0.857 possibly damaging 0.06 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed rs751392178 14q11.2 14 22123552T> C null V A 9 9 missense 0.447 possibly damaging 0.04 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed rs1269411310 14q11.2 14 22123560A> G null T A 12 12 missense 0.009 benign 0.21 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs745391469 14q11.2 14 22123561C> T null T I 12 12 missense 0.026 benign 0.38 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1433701912 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22123998G> A null G E 14 14 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 Ensembl rs529456443 14q11.2 14 22124001C> T null T I 15 15 missense 0.044 benign 0.5 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1384885233 14q11.2 14 22124004T> C null I T 16 16 missense 0.003 benign 0.42 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs779652737 14q11.2 14 22124003A> G null I V 16 16 missense 0.001 benign 1.0 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,TOPMed,gnomAD rs746627178 14q11.2 14 22124007T> C null I T 17 17 missense 0.02 benign 0.15 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed rs1302393586 14q11.2 14 22124011T> G null D E 18 18 missense 0.12 benign 0.63 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,TOPMed,gnomAD rs768203878 14q11.2 14 22124010A> T null D V 18 18 missense 0.784 possibly damaging 0.16 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ESP,ExAC,TOPMed,gnomAD rs374938443 14q11.2 14 22124013C> G null A G 19 19 missense 0.897 possibly damaging 0.01 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed rs1367149912 14q11.2 14 22124016A> G null K R 20 20 missense 0.844 possibly damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1446708302 14q11.2 14 22124018A> G null T A 21 21 missense 0.036 benign 0.1 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1184254144 14q11.2 14 22124019C> T null T I 21 21 missense 0.098 benign 0.34 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1184254144 14q11.2 14 22124019C> A null T N 21 21 missense 0.861 possibly damaging 0.02 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs773904829 14q11.2 14 22124028C> A null P H 24 24 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs773904829 14q11.2 14 22124028C> T null P L 24 24 missense 0.519 possibly damaging 0.04 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ESP,ExAC,TOPMed rs2272550 14q11.2 14 22124030A> G null T A 25 25 0.2622 missense 0.027 benign 0.78 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC,TOPMed rs539228614 14q11.2 14 22124031C> T null T I 25 25 5.99E-4 missense 0.003 benign 0.28 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC,TOPMed rs539228614 14q11.2 14 22124031C> A null T N 25 25 5.99E-4 missense 0.0 benign 0.59 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ESP,ExAC,TOPMed rs2272550 14q11.2 14 22124030A> C null T P 25 25 0.2622 missense 0.005 benign 0.31 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC,TOPMed rs539228614 14q11.2 14 22124031C> G null T S 25 25 5.99E-4 missense 0.003 benign 0.81 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ESP,ExAC,TOPMed rs2272550 14q11.2 14 22124030A> T null T S 25 25 0.2622 missense 0.003 benign 0.81 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1364681314 14q11.2 14 22124034C> T null S F 26 26 missense 0.16 benign 0.08 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC,gnomAD rs558835367 14q11.2 14 22124033T> C null S P 26 26 2.0E-4 missense 0.936 probably damaging 0.01 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1157258276 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22124038G> A null M I 27 27 missense 0.03 benign 0.18 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1471352402 14q11.2 14 22124036A> G null M V 27 27 missense 0.03 benign 0.38 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,TOPMed,gnomAD rs757062383 14q11.2 14 22124041T> A null D E 28 28 missense 0.03 benign 0.9 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed rs267603937 14q11.2 14 22124039G> C null D H 28 28 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed rs267603937 14q11.2 14 22124039G> A null D N 28 28 missense 0.913 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed,gnomAD rs1456420485 14q11.2 14 22124044C> A null C * 29 29 stop gained 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,TOPMed,gnomAD rs765141625 14q11.2 14 22124045G> A null A T 30 30 missense 0.031 benign 0.44 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs267603938 14q11.2 14 22124048G> A null E K 31 31 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs750403197 14q11.2 14 22124051G> T null G * 32 32 stop gained 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes rs571338888 14q11.2 14 22124055G> A null R K 33 33 2.0E-4 missense 0.001 benign 0.22 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC,TOPMed,gnomAD rs368731371 14q11.2 14 22124057G> A null A T 34 34 2.0E-4 missense 0.006 benign 0.19 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs746503010 14q11.2 14 22124072T> C null C R 39 39 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1204581028 14q11.2 14 22124073G> A null C Y 39 39 missense 0.903 possibly damaging 0.03 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs754651820 14q11.2 14 22124078C> T null H Y 41 41 missense 0.989 probably damaging 0.05 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed,gnomAD rs1460046454 14q11.2 14 22124082C> G null S C 42 42 missense 0.967 probably damaging 0.01 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs780762012 14q11.2 14 22124090A> G null S G 45 45 missense 0.017 benign 0.58 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed rs906847616 14q11.2 14 22124103A> G null Y C 49 49 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,TOPMed,gnomAD rs770322258 14q11.2 14 22124106T> C null V A 50 50 missense 0.087 benign 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,TOPMed,gnomAD rs770322258 14q11.2 14 22124106T> G null V G 50 50 missense 0.474 possibly damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed rs1440797600 14q11.2 14 22124108T> C null Y H 51 51 missense 0.0 benign 0.96 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1180072570 14q11.2 14 22124111T> C null W R 52 52 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,TOPMed,gnomAD rs771581259 14q11.2 14 22124116T> G null Y * 53 53 stop gained 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,NCI-TCGA,gnomAD rs749761824 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22124115A> G null Y C 53 53 missense 0.654 possibly damaging 0.03 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs773741623 14q11.2 14 22124114T> A null Y N 53 53 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs774507844 14q11.2 14 22124117C> G null R G 54 54 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs759602409 14q11.2 14 22124118G> C null R P 54 54 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs759602409 14q11.2 14 22124118G> A null R Q 54 54 missense 0.285 benign 0.23 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed rs1204286102 14q11.2 14 22124120C> A null Q K 55 55 missense 0.975 probably damaging 0.01 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed rs1325578867 14q11.2 14 22124126C> A null H N 57 57 missense 0.098 benign 0.02 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1301823699 14q11.2 14 22124127A> C null H P 57 57 missense 0.0 benign 1.0 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,TOPMed,gnomAD rs775627968 14q11.2 14 22124136G> C null G A 60 60 missense 0.792 possibly damaging 0.01 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1393116582 14q11.2 14 22124135G> A null G R 60 60 missense 0.315 benign 0.04 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ESP,ExAC,TOPMed,gnomAD rs377279036 14q11.2 14 22124138C> T null P S 61 61 missense 0.969 probably damaging 0.01 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs758262703 14q11.2 14 22124141C> G null Q E 62 62 missense 0.005 benign 0.66 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs766367627 14q11.2 14 22124142A> C null Q P 62 62 missense 0.713 possibly damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1459491857 14q11.2 14 22124144T> A null Y N 63 63 missense 0.84 possibly damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1481875999 14q11.2 14 22124148T> C null I T 64 64 missense 0.127 benign 0.06 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed,gnomAD rs1252013006 14q11.2 14 22124147A> G null I V 64 64 missense 0.001 benign 1.0 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 Ensembl rs868862943 14q11.2 14 22124151T> C null I T 65 65 missense 0.721 possibly damaging 0.02 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs751063330 14q11.2 14 22124154A> C null H P 66 66 missense 0.847 possibly damaging 0.01 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs754491557 14q11.2 14 22124155T> A null H Q 66 66 missense 0.053 benign 0.55 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1194623850 14q11.2 14 22124153C> T null H Y 66 66 missense 0.067 benign 0.03 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ESP,ExAC,TOPMed,gnomAD rs375651493 14q11.2 14 22124157G> A null G D 67 67 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs778223145 14q11.2 14 22124165A> C null N H 70 70 missense 0.693 possibly damaging 0.04 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC,TOPMed,gnomAD rs557079255 14q11.2 14 22124169A> T null N I 71 71 2.0E-4 missense 0.602 possibly damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC,TOPMed,gnomAD rs557079255 14q11.2 14 22124169A> G null N S 71 71 2.0E-4 missense 0.236 benign 0.06 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs745942210 14q11.2 14 22124173A> C null E D 72 72 missense 0.225 benign 0.07 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs779346673 14q11.2 14 22124171G> A null E K 72 72 missense 0.173 benign 0.21 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC,gnomAD rs573711194 14q11.2 14 22124184T> G null M R 76 76 2.0E-4 missense 0.578 possibly damaging 0.05 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1343846367 14q11.2 14 22124186G> A null A T 77 77 missense 0.272 benign 0.07 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs775674316 14q11.2 14 22124187C> T null A V 77 77 missense 0.249 benign 0.03 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs760762451 14q11.2 14 22124196T> A null I N 80 80 missense 0.012 benign 0.33 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs762791117 14q11.2 14 22124209C> G null D E 84 84 missense 0.767 possibly damaging 0.02 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs768868788 14q11.2 14 22124207G> C null D H 84 84 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs768868788 14q11.2 14 22124207G> A null D N 84 84 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,TOPMed,gnomAD rs766277673 14q11.2 14 22124214A> G null K R 86 86 missense 0.315 benign 0.02 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs751490997 14q11.2 14 22124216T> G null S A 87 87 missense 0.785 possibly damaging 0.01 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,gnomAD rs759548724 14q11.2 14 22124217C> T null S F 87 87 missense 0.238 benign 0.06 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1261741677 14q11.2 14 22124227G> C null L F 90 90 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192828460 14q11.2 14 22124229T> C null I T 91 91 2.0E-4 missense 0.033 benign 0.6 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed rs1409120176 14q11.2 14 22124228A> G null I V 91 91 missense 0.009 benign 0.85 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371848123 14q11.2 14 22124234C> T null P S 93 93 3.99E-4 missense 0.169 benign 0.14 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371848123 14q11.2 14 22124234C> A null P T 93 93 3.99E-4 missense 0.272 benign 0.08 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,TOPMed,gnomAD rs757745985 14q11.2 14 22124239C> G null H Q 94 94 missense 0.01 benign 0.9 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC rs141065087 14q11.2 14 22124237C> T null H Y 94 94 2.0E-4 missense 0.196 benign 0.06 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC,TOPMed,gnomAD rs545193017 14q11.2 14 22124240G> C null A P 95 95 7.99E-4 missense 0.872 possibly damaging 0.05 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs545193017 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22124240G> A null A T 95 95 7.99E-4 missense 0.3 benign 0.01 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1363515264 14q11.2 14 22124244C> A null T K 96 96 missense 0.944 probably damaging 0.05 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1168287058 14q11.2 14 22124243A> C null T P 96 96 missense 0.962 probably damaging 0.04 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373469394 14q11.2 14 22124250G> A null R K 98 98 2.0E-4 missense 0.12 benign 0.16 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373469394 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 14q11.2 14 22124250G> C null R T 98 98 2.0E-4 missense 0.379 benign 0.02 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1297014956 14q11.2 14 22124259C> A null A D 101 101 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1380601241 14q11.2 14 22124258G> A null A T 101 101 missense 0.523 possibly damaging 0.02 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184770480 14q11.2 14 22124261G> A null V M 102 102 3.99E-4 missense 0.577 possibly damaging 0.03 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1321509657 14q11.2 14 22124268A> G null Y C 104 104 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 TOPMed,gnomAD rs1289961318 14q11.2 14 22124267T> C null Y H 104 104 missense 0.654 possibly damaging 0.05 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 Ensembl rs980418622 14q11.2 14 22124274T> A null I N 106 106 missense 0.8 possibly damaging 0.0 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 gnomAD rs1329612459 14q11.2 14 22124273A> G null I V 106 106 missense 0.03 benign 0.36 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ESP,ExAC,TOPMed,gnomAD rs371388716 14q11.2 14 22124277T> C null V A 107 107 missense 0.64 possibly damaging 0.11 tolerated 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC,TOPMed rs768850414 14q11.2 14 22124276G> T null V F 107 107 missense 0.89 possibly damaging 0.02 deleterious 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 1000Genomes,ExAC,TOPMed rs544326069 14q11.2 14 22124282G> A null V I 109 109 2.0E-4 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A087WT03 TRAV26-1 T cell receptor alpha variable 26-1 ExAC rs755957104 14q11.2 14 22124280_22124281insGAGGAGGTGCTGACGGACTCACCTTTGGCA A null V R 109 109 stop gained 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs777939436 1q22 1 156213020C> A null A D 2 2 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs749848175 1q22 1 156213023A> G null E G 3 3 missense 0.688 possibly damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs767498512 1q22 1 156213026C> A null A E 4 4 missense 0.642 possibly damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146867902 1q22 1 156213025G> A null A T 4 4 2.0E-4 missense 0.125 benign 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs767498512 1q22 1 156213026C> T null A V 4 4 missense 0.044 benign 0.06 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1474510250 1q22 1 156213031A> G null S G 6 6 missense 0.007 benign 0.26 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs778448047 1q22 1 156213032G> T null S I 6 6 missense 0.18 benign 0.01 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs778448047 1q22 1 156213032G> A null S N 6 6 missense 0.007 benign 0.32 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs778448047 1q22 1 156213032G> C null S T 6 6 missense 0.007 benign 0.22 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs775216061 1q22 1 156213037A> C null N H 8 8 missense 0.036 benign 0.04 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1382705777 1q22 1 156213039T> A null N K 8 8 missense 0.205 benign 0.01 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs746586716 1q22 1 156213046A> G null S G 11 11 missense 0.003 benign 0.61 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1353582802 1q22 1 156213047G> A null S N 11 11 missense 0.022 benign 0.22 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1414253839 1q22 1 156213048C> A null S R 11 11 missense 0.045 benign 0.05 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough Ensembl rs1558186229 1q22 1 156213050G> C null G A 12 12 missense 0.017 benign 0.21 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs768555004 1q22 1 156213049G> T null G C 12 12 missense 0.118 benign 0.07 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs1237224129 1q22 1 156213053G> T null C F 13 13 missense 0.036 benign 0.08 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ESP,ExAC,TOPMed,gnomAD rs377730230 1q22 1 156213052T> C null C R 13 13 missense 0.011 benign 0.12 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs201504927 1q22 1 156213054T> G null C W 13 13 missense 0.831 possibly damaging 0.01 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs1237224129 1q22 1 156213053G> A null C Y 13 13 missense 0.011 benign 0.1 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs201900663 1q22 1 156213056A> G null E G 14 14 missense 0.614 possibly damaging 0.07 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs773234191 1q22 1 156213059A> G null E G 15 15 missense 0.049 benign 0.03 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough Ensembl rs1001667083 1q22 1 156213065G> C null R T 17 17 missense 0.037 benign 0.22 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1256304903 1q22 1 156213068A> C null H P 18 18 missense 0.0 benign 1.0 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1370706308 1q22 1 156213070G> A null E K 19 19 missense 0.253 benign 0.04 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1449576325 1q22 1 156213074G> A null G E 20 20 missense 0.059 benign 0.27 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs752974319 1q22 1 156213073G> A null G R 20 20 missense 0.452 possibly damaging 0.01 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs764581905 1q22 1 156213077C> T null S L 21 21 missense 0.028 benign 0.2 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough Ensembl rs995807995 1q22 1 156213080C> T null S F 22 22 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ESP,ExAC,TOPMed,gnomAD rs146208639 1q22 1 156213085G> T null E * 24 24 stop gained 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs746310331 1q22 1 156213088T> C null S P 25 25 missense 0.061 benign 0.42 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough Ensembl rs765440844 1q22 1 156213091G> A null V M 26 26 missense 0.209 benign 0.04 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs1389889375 1q22 1 156213095C> T null P L 27 27 missense 0.026 benign 0.11 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1381486325 1q22 1 156213094C> T null P S 27 27 missense 0.127 benign 0.08 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1381486325 1q22 1 156213094C> A null P T 27 27 missense 0.196 benign 0.03 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs779418661 1q22 1 156213098C> A null P H 28 28 missense 0.187 benign 0.02 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs779418661 1q22 1 156213098C> G null P R 28 28 missense 0.726 possibly damaging 0.01 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs757941220 1q22 1 156213097C> A null P T 28 28 missense 0.087 benign 0.04 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs776537237 1q22 1 156213100G> T null G C 29 29 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200909305 1q22 1 156213101G> A null G D 29 29 2.0E-4 missense 0.024 benign 0.1 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1212275118 1q22 1 156213103A> G null T A 30 30 missense 0.007 benign 0.26 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1483980342 1q22 1 156213107C> T null T I 31 31 missense 0.193 benign 0.09 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs769670305 1q22 1 156213110T> G null I S 32 32 missense 0.614 possibly damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1201769847 1q22 1 156213112T> G null S A 33 33 missense 0.719 possibly damaging 0.15 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs773285630 1q22 1 156213124C> T null L F 37 37 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough Ensembl rs758510947 1q22 1 156213127C> T null L F 38 38 missense 0.132 benign 0.14 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs762922221 1q22 1 156213134C> T null T I 40 40 missense 0.978 probably damaging 0.01 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1345305369 1q22 1 156213137T> A null M K 41 41 missense 0.572 possibly damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1176793557 1q22 1 156213139G> C null V L 42 42 missense 0.645 possibly damaging 0.32 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs767691638 1q22 1 156213149T> C null F S 45 45 missense 0.96 probably damaging 0.03 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,NCI-TCGA,gnomAD rs775423643 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q22 1 156213151C> T null L F 46 46 missense 0.972 probably damaging 0.01 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1324263311 1q22 1 156213154C> A null Q K 47 47 missense 0.792 possibly damaging 0.12 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ExAC,TOPMed,gnomAD rs564773343 1q22 1 156213157A> C null K Q 48 48 2.0E-4 missense 0.646 possibly damaging 0.04 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1304069342 1q22 1 156213160C> G null L V 49 49 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ESP,ExAC,TOPMed,gnomAD rs377154093 1q22 1 156213170C> G null A G 52 52 missense 0.099 benign 0.07 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ESP,ExAC,TOPMed,gnomAD rs377154093 1q22 1 156213170C> T null A V 52 52 missense 0.469 possibly damaging 0.05 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed rs750988132 1q22 1 156213172G> A null G S 53 53 missense 0.959 probably damaging 0.02 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs758828671 1q22 1 156213176G> A null R K 54 54 missense 0.023 benign 1.0 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,NCI-TCGA,TOPMed,gnomAD rs771971437 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 1q22 1 156236289C> T null R C 55 55 missense 0.983 probably damaging 0.0 deleterious 1 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1487327435 1q22 1 156236290G> A null R H 55 55 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1229804115 1q22 1 156236292C> T null P S 56 56 missense 0.988 probably damaging 0.02 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1264057676 1q22 1 156236296G> C null S T 57 57 missense 0.561 possibly damaging 0.06 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs766235404 1q22 1 156236298G> A null G R 58 58 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1006626784 1q22 1 156236301A> T null I F 59 59 missense 0.464 possibly damaging 0.01 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs1405159530 1q22 1 156236304C> G null P A 60 60 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs1163067794 1q22 1 156236305C> T null P L 60 60 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs1405159530 1q22 1 156236304C> A null P T 60 60 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1167465484 1q22 1 156236308A> G null E G 61 61 missense 0.953 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs763130134 1q22 1 156236310A> G null K E 62 62 missense 0.031 benign 0.78 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1297012800 1q22 1 156236315T> G null D E 63 63 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs766510624 1q22 1 156236314A> G null D G 63 63 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1044925132 1q22 1 156236319C> T null H Y 65 65 missense 0.398 benign 0.13 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs751868897 1q22 1 156236322A> G null S G 66 66 missense 0.292 benign 0.08 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs751868897 1q22 1 156236322A> C null S R 66 66 missense 0.656 possibly damaging 0.01 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough Ensembl rs1558197641 1q22 1 156236325G> A null V I 67 67 missense 0.007 benign 0.43 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1052067 pubmed:10419538,pubmed:15489334 1q22 1 156236330G> A null M I 68 68 0.1937 missense 0.013 benign 0.07 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs767964139 1q22 1 156236329T> C null M T 68 68 missense 0.023 benign 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ESP,ExAC,TOPMed,gnomAD rs146023155 1q22 1 156236328A> G null M V 68 68 missense 0.013 benign 0.14 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ExAC,gnomAD rs555212220 1q22 1 156236332C> T null A V 69 69 3.99E-4 missense 0.031 benign 1.0 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs778280527 1q22 1 156236337T> G null Y D 71 71 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs1239408709 1q22 1 156236346C> T null Q * 74 74 stop gained 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs1031004715 1q22 1 156236351A> C null Q H 75 75 missense 0.993 probably damaging 0.24 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ExAC,gnomAD rs573328595 1q22 1 156236349C> A null Q K 75 75 2.0E-4 missense 0.969 probably damaging 0.04 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs778285141 1q22 1 156236353G> A null R Q 76 76 missense 0.267 benign 0.07 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149553436 1q22 1 156236352C> T null R W 76 76 2.0E-4 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62001898 1q22 1 156236365G> A null R Q 80 80 5.99E-4 missense 0.0 benign 0.57 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140410413 1q22 1 156236364C> T null R W 80 80 0.004193 missense 0.003 benign 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62001899 1q22 1 156236367C> T null R C 81 81 0.007388 missense 0.116 benign 0.01 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,NCI-TCGA,TOPMed,gnomAD rs768500887 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q22 1 156236368G> A null R H 81 81 missense 0.03 benign 0.13 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ESP,ExAC,TOPMed,gnomAD rs371184439 1q22 1 156236371A> G null H R 82 82 missense 0.005 benign 0.59 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1329327337 1q22 1 156236378G> C null Q H 84 84 missense 0.042 benign 0.06 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1331747405 1q22 1 156236379A> C null K Q 85 85 missense 0.95 probably damaging 0.04 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ESP,TOPMed rs374332989 1q22 1 156236380A> G null K R 85 85 missense 0.113 benign 0.37 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1410082687 1q22 1 156236382C> T null Q * 86 86 stop gained 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs761830699 1q22 1 156236386A> G null E G 87 87 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs767655347 1q22 1 156236391G> A null E K 89 89 missense 0.112 benign 0.19 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1445871536 1q22 1 156236392A> T null E V 89 89 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ESP,ExAC,TOPMed,gnomAD rs148649401 1q22 1 156236396C> G null N K 90 90 missense 0.945 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs761027917 1q22 1 156236397C> T null Q * 91 91 stop gained 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs764380670 1q22 1 156236398A> G null Q R 91 91 missense 0.005 benign 1.0 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1205873320 cosmic curated [Cosmic]: kidney cosmic_study:416 1q22 1 156236413C> T null A V 96 96 missense 0.621 possibly damaging 0.01 deleterious 1 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ESP,ExAC,TOPMed,gnomAD rs141293459 1q22 1 156236415G> A null V I 97 97 missense 0.677 possibly damaging 0.06 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1170275332 1q22 1 156236428G> A null R Q 101 101 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs548726372 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q22 1 156236427C> T null R W 101 101 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ESP,ExAC,TOPMed,gnomAD rs367865962 1q22 1 156236435G> T null Q H 103 103 missense 0.073 benign 0.02 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1178149427 1q22 1 156236436G> A null V M 104 104 missense 0.488 possibly damaging 0.05 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ESP,ExAC,gnomAD rs370310915 1q22 1 156236444G> C null E D 106 106 missense 0.061 benign 0.05 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1233377219 1q22 1 156236448C> T null Q * 108 108 stop gained 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs769830916 1q22 1 156236451C> A null L I 109 109 missense 0.647 possibly damaging 0.1 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1331904881 1q22 1 156236454C> T null Q * 110 110 stop gained 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs773153057 1q22 1 156236455A> G null Q R 110 110 missense 0.763 possibly damaging 0.63 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs180708431 1q22 1 156236457G> A null V I 111 111 3.99E-4 missense 0.031 benign 1.0 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs772118740 1q22 1 156236460C> T null Q * 112 112 stop gained 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ExAC,TOPMed,gnomAD rs528319714 1q22 1 156236464C> G null A G 113 113 2.0E-4 missense 0.963 probably damaging 0.07 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs764484778 1q22 1 156236471G> T null Q H 115 115 missense 0.968 probably damaging 0.1 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs1030430623 1q22 1 156236470A> C null Q P 115 115 missense 0.938 probably damaging 0.09 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC rs754182108 1q22 1 156236472C> T null Q * 116 116 stop gained 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs917756111 1q22 1 156236481C> T null Q * 119 119 stop gained 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs183196972 cosmic curated [Cosmic]: large_intestine cosmic_study:376 1q22 1 156242556C> T null R * 121 121 3.99E-4 missense 1 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ExAC,TOPMed,gnomAD rs570297934 1q22 1 156242557G> A null R Q 121 121 2.0E-4 missense 0.0 benign 0.62 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1447282095 1q22 1 156242562C> T null P S 123 123 missense 0.0 benign 0.15 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1251034119 1q22 1 156242566C> A null A E 124 124 missense 0.2 benign 1.0 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1251034119 1q22 1 156242566C> T null A V 124 124 missense 0.141 benign 0.25 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35330985 1q22 1 156242569T> C null V A 125 125 0.001198 missense 0.026 benign 0.27 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1162459556 1q22 1 156242572A> G null Q R 126 126 missense 0.001 benign 0.52 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs749408767 1q22 1 156242574A> G null S G 127 127 missense 0.08 benign 0.41 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs771479400 1q22 1 156242575G> A null S N 127 127 missense 0.118 benign 0.26 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs779414240 1q22 1 156242577C> G null P A 128 128 missense 0.108 benign 0.08 tolerated - low confidence 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,gnomAD rs569532292 1q22 1 156242578C> G null P R 128 128 2.0E-4 missense 0.466 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs779414240 1q22 1 156242577C> A null P T 128 128 missense 0.144 benign 0.04 deleterious - low confidence 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough gnomAD rs1216102679 1q22 1 156242580G> A null A T 129 129 missense 0.041 benign 0.16 tolerated - low confidence 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs1169712730 1q22 1 156242586G> A null V M 131 131 missense 0.184 benign 0.05 tolerated - low confidence 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed,gnomAD rs1486996443 1q22 1 156242591G> C null Q H 132 132 missense 0.316 benign 0.02 deleterious 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough TOPMed rs892219173 1q22 1 156242589C> A null Q K 132 132 missense 0.041 benign 0.1 tolerated 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,TOPMed,gnomAD rs762690812 1q22 1 156242767G> C null L F 134 134 missense 0.169 benign 0.16 tolerated - low confidence 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ExAC,gnomAD rs534441826 1q22 1 156242766T> C null L S 134 134 2.0E-4 missense 0.0 benign 0.35 tolerated - low confidence 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ExAC,TOPMed,gnomAD rs182775321 1q22 1 156242776C> A null S R 137 137 0.004792 missense 0.144 benign 0.0 deleterious - low confidence 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough ExAC,gnomAD rs746980182 1q22 1 156242778G> A null R K 138 138 missense 0.146 benign 0.37 tolerated - low confidence 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes,ExAC,TOPMed,gnomAD rs200792947 1q22 1 156242787C> T null A V 141 141 7.99E-4 missense 0.009 benign 1.0 tolerated - low confidence 0 A0A087WT04 PMF1-BGLAP PMF1-BGLAP readthrough 1000Genomes rs201532177 1q22 1 156242792T> C null * Q 143 143 2.0E-4 missense 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs776879332 19q13.31 19 42937069G> A null P L 3 3 missense 0.012 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs776879332 19q13.31 19 42937069G> C null P R 3 3 missense 0.444 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs370284670 19q13.31 19 42937070G> A null P S 3 3 missense 0.021 benign 0.13 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370284670 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42937070G> T null P T 3 3 missense 0.012 benign 0.05 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs377017585 19q13.31 19 42937067G> C null L V 4 4 missense 0.089 benign 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1368687174 19q13.31 19 42937064A> G null S P 5 5 missense 0.041 benign 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1446823328 19q13.31 19 42937060G> C null A G 6 6 missense 0.015 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1332793984 19q13.31 19 42937061C> A null A S 6 6 missense 0.043 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs150067430 19q13.31 19 42937057G> T null P H 7 7 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs150067430 19q13.31 19 42937057G> A null P L 7 7 2.0E-4 missense 0.508 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs781503629 19q13.31 19 42937054G> A null P L 8 8 missense 0.007 benign 0.24 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1326495102 19q13.31 19 42937050G> T null C * 9 9 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs772641423 19q13.31 19 42937048G> A null T I 10 10 missense 0.091 benign 0.05 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs774723117 19q13.31 19 42937046G> C null Q E 11 11 missense 0.007 benign 0.33 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1300534271 19q13.31 19 42937044C> G null Q H 11 11 missense 0.012 benign 0.55 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs200787873 19q13.31 19 42937042T> A null H L 12 12 missense 0.003 benign 0.7 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs200787873 19q13.31 19 42937042T> C null H R 12 12 missense 0.0 benign 0.73 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1173402229 19q13.31 19 42937043G> A null H Y 12 12 missense 0.212 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,TOPMed rs369221539 19q13.31 19 42937036G> A null T I 14 14 missense 0.255 benign 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,TOPMed rs369221539 19q13.31 19 42937036G> T null T N 14 14 missense 0.255 benign 0.11 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs747689295 19q13.31 19 42937028C> T null G R 17 17 missense 0.888 possibly damaging 0.19 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs747689295 19q13.31 19 42937028C> G null G R 17 17 missense 0.888 possibly damaging 0.19 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed rs754987684 19q13.31 19 42937025G> A null L F 18 18 missense 0.025 benign 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed rs754987684 19q13.31 19 42937025G> C null L V 18 18 missense 0.015 benign 0.05 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs766315659 19q13.31 19 42937018A> G null L P 20 20 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs568904102 19q13.31 19 42937019G> C null L V 20 20 2.0E-4 missense 0.073 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs530464449 19q13.31 19 42937015G> T null T K 21 21 3.99E-4 missense 0.839 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372646041 19q13.31 19 42937013C> A null A S 22 22 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372646041 19q13.31 19 42937013C> T null A T 22 22 2.0E-4 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782269245 19q13.31 19 42935766G> C null S * 23 23 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs557434306 19q13.31 19 42935767A> G null S P 23 23 3.99E-4 missense 0.93 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs371242293 19q13.31 19 42935760A> C null L * 25 25 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782432332 19q13.31 19 42935757T> A null N I 26 26 missense 0.028 benign 0.58 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs368344111 19q13.31 19 42935756G> T null N K 26 26 missense 0.363 benign 0.05 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1482701632 19q13.31 19 42935755A> G null F L 27 27 missense 0.167 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782606896 19q13.31 19 42935750C> G null W C 28 28 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1427661126 19q13.31 19 42935749T> G null N H 29 29 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,TOPMed,gnomAD rs537303361 19q13.31 19 42935747G> T null N K 29 29 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1251978401 19q13.31 19 42935748T> G null N T 29 29 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782486798 19q13.31 19 42935746G> C null P A 30 30 missense 0.007 benign 0.1 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199525721 19q13.31 19 42935745G> A null P L 30 30 0.001398 missense 0.007 benign 0.23 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782486798 19q13.31 19 42935746G> T null P T 30 30 missense 0.007 benign 0.1 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782548438 19q13.31 19 42935742G> A null P L 31 31 missense 0.821 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1481407777 19q13.31 19 42935743G> A null P S 31 31 missense 0.899 possibly damaging 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782068791 19q13.31 19 42935739G> A null T I 32 32 missense 0.037 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782068791 19q13.31 19 42935739G> T null T N 32 32 missense 0.761 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782068791 19q13.31 19 42935739G> C null T S 32 32 missense 0.341 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782763483 19q13.31 19 42935734C> G null A P 34 34 missense 0.856 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782015207 19q13.31 19 42935728C> A null V F 36 36 missense 0.972 probably damaging 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1370826360 19q13.31 19 42935725T> C null T A 37 37 missense 0.035 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782411088 19q13.31 19 42935724G> A null T M 37 37 missense 0.038 benign 0.17 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376569971 19q13.31 19 42935721A> G null I T 38 38 3.99E-4 missense 0.708 possibly damaging 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782239794 19q13.31 19 42935713G> C null Q E 41 41 missense 0.005 benign 0.18 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782239794 19q13.31 19 42935713G> T null Q K 41 41 missense 0.005 benign 0.5 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1230155441 19q13.31 19 42935710G> T null P T 42 42 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1352604041 19q13.31 19 42935702T> A null K N 44 44 missense 0.144 benign 0.61 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1352604041 19q13.31 19 42935702T> G null K N 44 44 missense 0.144 benign 0.61 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782279863 19q13.31 19 42935700A> G null V A 45 45 missense 0.085 benign 0.22 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782279863 19q13.31 19 42935700A> T null V D 45 45 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782436886 19q13.31 19 42935698A> C null S A 46 46 missense 0.037 benign 0.61 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782436886 19q13.31 19 42935698A> G null S P 46 46 missense 0.786 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1250594088 19q13.31 19 42935694T> C null E G 47 47 missense 0.55 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs532113687 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935695C> T null E K 47 47 2.0E-4 missense 0.019 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs532113687 19q13.31 19 42935695C> G null E Q 47 47 2.0E-4 missense 0.626 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1479453166 19q13.31 19 42935691C> G null G A 48 48 missense 0.606 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370231373 19q13.31 19 42935692C> T null G R 48 48 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs781785092 19q13.31 19 42935687C> G null K N 49 49 missense 0.806 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782155488 19q13.31 19 42935688T> C null K R 49 49 missense 0.65 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs549369260 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935686C> T null D N 50 50 3.99E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs549369260 19q13.31 19 42935686C> A null D Y 50 50 3.99E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782078128 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935680G> A null L F 52 52 missense 0.686 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782078128 19q13.31 19 42935680G> T null L I 52 52 missense 0.045 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1389953160 19q13.31 19 42935676A> G null L P 53 53 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1389953160 19q13.31 19 42935676A> T null L Q 53 53 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1314502856 19q13.31 19 42935674G> T null L I 54 54 missense 0.707 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782138572 19q13.31 19 42935660C> A null L F 58 58 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782418664 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935659G> C null P A 59 59 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1171726837 19q13.31 19 42935658G> A null P L 59 59 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782418664 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935659G> A null P S 59 59 missense 0.999 probably damaging 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782418664 19q13.31 19 42935659G> T null P T 59 59 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1384246968 19q13.31 19 42935655T> A null Q L 60 60 missense 0.085 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs189774968 19q13.31 19 42935652T> C null N S 61 61 2.0E-4 missense 0.954 probably damaging 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs189774968 19q13.31 19 42935652T> G null N T 61 61 2.0E-4 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782343198 19q13.31 19 42935650G> A null L F 62 62 missense 0.961 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1180383090 19q13.31 19 42935647T> C null T A 63 63 missense 0.0 benign 0.82 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1189136874 19q13.31 19 42935643C> T null G D 64 64 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782536578 19q13.31 19 42935639G> T null Y * 65 65 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,dbSNP,gnomAD rs7245978 19q13.31 19 42935641A> G null Y H 65 65 0.0 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs781815812 19q13.31 19 42935636G> C null I M 66 66 missense 0.009 benign 0.21 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs573364900 19q13.31 19 42935637A> G null I T 66 66 2.0E-4 missense 0.0 benign 0.62 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs781905382 19q13.31 19 42935638T> C null I V 66 66 missense 0.015 benign 0.54 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1414362693 19q13.31 19 42935633C> T null W * 67 67 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs373204684 19q13.31 19 42935634C> T null W * 67 67 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1414362693 19q13.31 19 42935633C> G null W C 67 67 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1414362693 19q13.31 19 42935633C> A null W C 67 67 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs201421586 19q13.31 19 42935635A> G null W R 67 67 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs373204684 19q13.31 19 42935634C> G null W S 67 67 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1354651064 19q13.31 19 42935632A> T null Y N 68 68 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs559745030 19q13.31 19 42935628T> A null K I 69 69 2.0E-4 missense 0.928 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782801626 19q13.31 19 42935626C> T null G R 70 70 missense 0.498 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1157508169 19q13.31 19 42935618G> C null I M 72 72 missense 0.003 benign 0.4 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1475428843 19q13.31 19 42935620T> C null I V 72 72 missense 0.026 benign 0.19 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs781920560 19q13.31 19 42935616C> G null R T 73 73 missense 0.0 benign 0.54 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1374345448 19q13.31 19 42935612G> T null D E 74 74 missense 0.12 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782728340 19q13.31 19 42935611G> A null L F 75 75 missense 0.481 possibly damaging 0.57 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782728340 19q13.31 19 42935611G> C null L V 75 75 missense 0.078 benign 0.35 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1474668370 19q13.31 19 42935608A> T null Y N 76 76 missense 0.005 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs781972521 19q13.31 19 42935604T> A null H L 77 77 missense 0.79 possibly damaging 0.1 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1259426179 19q13.31 19 42935605G> A null H Y 77 77 missense 0.885 possibly damaging 0.1 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs546271184 19q13.31 19 42935600A> T null Y * 78 78 0.001398 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1387380874 19q13.31 19 42935598A> G null V A 79 79 missense 0.026 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs577426866 19q13.31 19 42935599C> A null V F 79 79 0.001398 missense 0.062 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs577426866 19q13.31 19 42935599C> T null V I 79 79 0.001398 missense 0.0 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs186926543 19q13.31 19 42935595G> A null T I 80 80 3.99E-4 missense 0.018 benign 0.41 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782491947 19q13.31 19 42935589T> A null Y F 82 82 missense 0.898 possibly damaging 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1291227394 19q13.31 19 42935586A> T null I K 83 83 missense 0.113 benign 0.05 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs781919486 19q13.31 19 42935585T> C null I M 83 83 missense 0.188 benign 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs58684857 19q13.31 19 42935587T> C null I V 83 83 0.1374 missense 0.0 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140238439 19q13.31 19 42935579G> T null D E 85 85 0.001797 missense 0.068 benign 0.11 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1317606592 19q13.31 19 42935581C> G null D H 85 85 missense 0.029 benign 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs781911242 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935578C> A null G C 86 86 missense 0.851 possibly damaging 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1325989021 19q13.31 19 42935577C> T null G D 86 86 missense 0.007 benign 0.1 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs781911242 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935578C> T null G S 86 86 missense 0.007 benign 0.61 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782457506 19q13.31 19 42935575G> A null Q * 87 87 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782741545 19q13.31 19 42935571A> C null I R 88 88 missense 0.003 benign 0.77 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782127425 19q13.31 19 42935567A> C null I M 89 89 missense 0.399 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782012305 19q13.31 19 42935565T> A null K I 90 90 missense 0.0 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782050918 19q13.31 19 42935561A> T null Y * 91 91 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782811372 19q13.31 19 42935563A> C null Y D 91 91 missense 0.091 benign 0.2 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782811372 19q13.31 19 42935563A> T null Y N 91 91 missense 0.091 benign 0.3 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782335291 19q13.31 19 42935559C> G null G A 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782335291 19q13.31 19 42935559C> T null G E 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs781930808 19q13.31 19 42935560C> A null G W 92 92 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782220340 19q13.31 19 42935557G> C null P A 93 93 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782390811 19q13.31 19 42935553G> C null A G 94 94 missense 0.622 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782445529 19q13.31 19 42935549G> C null Y * 95 95 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1373009423 19q13.31 19 42935551A> G null Y H 95 95 missense 0.096 benign 0.18 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1373009423 19q13.31 19 42935551A> T null Y N 95 95 missense 0.752 possibly damaging 0.05 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782201530 19q13.31 19 42935548T> C null S G 96 96 missense 0.0 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,gnomAD rs367843913 19q13.31 19 42935547C> G null S T 96 96 missense 0.001 benign 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1242875095 19q13.31 19 42935544C> G null G A 97 97 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782600839 19q13.31 19 42935545C> T null G R 97 97 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113247044 19q13.31 19 42935542G> A null R * 98 98 0.1396 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782805230 19q13.31 19 42935541C> A null R L 98 98 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs781789277 19q13.31 19 42935535G> A null T I 100 100 missense 0.849 possibly damaging 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs781789277 19q13.31 19 42935535G> C null T R 100 100 missense 0.068 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782714316 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935532A> G null V A 101 101 missense 0.015 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs782146830 19q13.31 19 42935533C> T null V I 101 101 missense 0.015 benign 0.7 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs372868509 19q13.31 19 42935526G> C null S C 103 103 missense 0.029 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs372868509 19q13.31 19 42935526G> A null S F 103 103 missense 0.789 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1205564506 19q13.31 19 42935527A> G null S P 103 103 missense 0.012 benign 0.38 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs372868509 19q13.31 19 42935526G> T null S Y 103 103 missense 0.847 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782134922 19q13.31 19 42935524T> C null N D 104 104 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782020443 19q13.31 19 42935523T> C null N S 104 104 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782441568 19q13.31 19 42935521C> T null A T 105 105 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782052503 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935520G> A null A V 105 105 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1368206323 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935517G> A null S F 106 106 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1411054503 19q13.31 19 42935518A> T null S T 106 106 missense 0.511 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1368206323 19q13.31 19 42935517G> T null S Y 106 106 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782235805 19q13.31 19 42935508A> T null I N 109 109 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782235805 19q13.31 19 42935508A> G null I T 109 109 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181854410 19q13.31 19 42935509T> C null I V 109 109 2.0E-4 missense 0.606 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1436931196 19q13.31 19 42935501A> C null N K 111 111 missense 0.012 benign 0.05 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782286322 19q13.31 19 42935493T> C null Q R 114 114 missense 0.0 benign 0.8 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs375433199 19q13.31 19 42935489T> A null E D 115 115 missense 0.007 benign 0.29 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs375433199 19q13.31 19 42935489T> G null E D 115 115 missense 0.007 benign 0.29 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782559658 19q13.31 19 42935491C> T null E K 115 115 missense 0.007 benign 0.63 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1385396353 19q13.31 19 42935488C> A null D Y 116 116 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782611740 19q13.31 19 42935485T> C null T A 117 117 missense 0.0 benign 0.53 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs370808980 19q13.31 19 42935484G> A null T I 117 117 missense 0.176 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs370808980 19q13.31 19 42935484G> T null T K 117 117 missense 0.057 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs370808980 19q13.31 19 42935484G> C null T R 117 117 missense 0.526 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1251685170 19q13.31 19 42935481C> T null G E 118 118 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1486550724 19q13.31 19 42935482C> T null G R 118 118 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1257933061 19q13.31 19 42935478G> A null S F 119 119 missense 0.018 benign 0.33 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1310360833 19q13.31 19 42935474G> T null Y * 120 120 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs112354282 19q13.31 19 42935476A> G null Y H 120 120 0.02236 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs781795921 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935469A> G null L S 122 122 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs190542670 19q13.31 19 42935465G> C null H Q 123 123 0.001797 missense 0.147 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,gnomAD rs370729633 19q13.31 19 42935462G> C null I M 124 124 missense 0.974 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1356569135 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.31 19 42935455G> A null R * 127 127 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146684607 19q13.31 19 42935454C> G null R P 127 127 3.99E-4 missense 0.737 possibly damaging 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146684607 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935454C> T null R Q 127 127 3.99E-4 missense 0.617 possibly damaging 0.18 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782136743 19q13.31 19 42935451C> T null G D 128 128 missense 0.019 benign 0.48 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1347402816 19q13.31 19 42935452C> G null G R 128 128 missense 0.073 benign 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782136743 19q13.31 19 42935451C> A null G V 128 128 missense 0.761 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1167428668 19q13.31 19 42935447A> C null D E 129 129 missense 0.968 probably damaging 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1405844340 19q13.31 19 42935448T> C null D G 129 129 missense 0.977 probably damaging 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782303349 19q13.31 19 42935445C> T null G E 130 130 missense 0.007 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782303349 19q13.31 19 42935445C> A null G V 130 130 missense 0.037 benign 0.3 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 Ensembl rs1568460853 19q13.31 19 42935443T> C null T A 131 131 missense 0.197 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs569434238 19q13.31 19 42935439C> G null G A 132 132 2.0E-4 missense 0.138 benign 0.13 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs868993842 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935440C> T null G R 132 132 missense 0.003 benign 0.63 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1191307647 19q13.31 19 42935437C> G null G R 133 133 missense 0.105 benign 0.65 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1191307647 19q13.31 19 42935437C> T null G R 133 133 missense 0.105 benign 0.65 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782646480 19q13.31 19 42935434C> T null V I 134 134 missense 0.003 benign 0.36 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782646480 19q13.31 19 42935434C> G null V L 134 134 missense 0.027 benign 0.17 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs782541076 19q13.31 19 42935428C> A null G * 136 136 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200181302 19q13.31 19 42935427C> G null G A 136 136 7.99E-4 missense 0.876 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114636996 19q13.31 19 42935425G> A null R C 137 137 0.009185 missense 0.594 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs184987448 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935424C> T null R H 137 137 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs184987448 19q13.31 19 42935424C> A null R L 137 137 3.99E-4 missense 0.048 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114636996 19q13.31 19 42935425G> T null R S 137 137 0.009185 missense 0.048 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1290009215 19q13.31 19 42935418G> T null T N 139 139 missense 0.786 possibly damaging 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782499484 19q13.31 19 42935416A> G null F L 140 140 missense 0.035 benign 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs548861044 19q13.31 19 42935415A> T null F Y 140 140 2.0E-4 missense 0.506 possibly damaging 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs200405164 19q13.31 19 42935412G> C null T S 141 141 missense 0.253 benign 0.58 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs528825218 19q13.31 19 42935408T> G null L F 142 142 3.99E-4 missense 0.346 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782049857 19q13.31 19 42935409A> G null L S 142 142 missense 0.948 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs782721273 19q13.31 19 42935405G> T null Y * 143 143 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1421881968 19q13.31 19 42935406T> C null Y C 143 143 missense 0.031 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1163992028 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42935407A> G null Y H 143 143 missense 0.007 benign 0.19 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1421881968 19q13.31 19 42935406T> G null Y S 143 143 missense 0.197 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs745772540 19q13.31 19 42929720A> G null L P 144 144 missense 0.007 benign 0.39 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs201202314 19q13.31 19 42935404G> C null L V 144 144 2.0E-4 missense 0.023 benign 0.54 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs774167447 19q13.31 19 42929718C> G null E Q 145 145 missense 0.018 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs754454414 19q13.31 19 42929715T> C null T A 146 146 missense 0.003 benign 0.46 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs887148891 19q13.31 19 42929712G> A null P S 147 147 missense 0.999 probably damaging 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs887148891 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929712G> T null P T 147 147 missense 0.999 probably damaging 0.05 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1420479499 19q13.31 19 42929706G> C null P A 149 149 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,gnomAD rs376965921 19q13.31 19 42929702G> C null S C 150 150 missense 0.821 possibly damaging 0.05 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs747071222 19q13.31 19 42929703A> G null S P 150 150 missense 0.773 possibly damaging 0.1 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs747071222 19q13.31 19 42929703A> T null S T 150 150 missense 0.14 benign 0.63 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1207376162 19q13.31 19 42929700T> A null I F 151 151 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1469129480 19q13.31 19 42929697A> C null S A 152 152 missense 0.606 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs750911254 19q13.31 19 42929696G> C null S C 152 152 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs750911254 19q13.31 19 42929696G> T null S Y 152 152 missense 0.983 probably damaging 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs374761450 19q13.31 19 42929690C> T null S N 154 154 missense 0.283 benign 0.71 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs753608591 19q13.31 19 42929689G> C null S R 154 154 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs374761450 19q13.31 19 42929690C> G null S T 154 154 missense 0.937 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs763841110 19q13.31 19 42929687T> A null N I 155 155 missense 0.867 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs370262546 19q13.31 19 42929683G> T null F L 156 156 missense 0.0 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1488414382 19q13.31 19 42929684A> T null F Y 156 156 missense 0.15 benign 0.14 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1339622711 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929680G> T null N K 157 157 missense 0.037 benign 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs767017215 19q13.31 19 42929678G> T null P H 158 158 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs767017215 19q13.31 19 42929678G> C null P R 158 158 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1426460309 19q13.31 19 42929673C> A null E * 160 160 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs759436794 19q13.31 19 42929671C> A null E D 160 160 missense 0.807 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs762733927 19q13.31 19 42929669G> C null A G 161 161 missense 0.007 benign 0.42 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs770772314 19q13.31 19 42929670C> A null A S 161 161 missense 0.138 benign 0.54 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs770772314 19q13.31 19 42929670C> T null A T 161 161 missense 0.012 benign 0.49 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs193095918 19q13.31 19 42929666G> T null T K 162 162 3.99E-4 missense 0.007 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs193095918 19q13.31 19 42929666G> A null T M 162 162 3.99E-4 missense 0.003 benign 0.31 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs376813434 19q13.31 19 42929662C> A null E D 163 163 missense 0.007 benign 0.86 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs772169590 19q13.31 19 42929661C> T null A T 164 164 missense 0.003 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs746431878 19q13.31 19 42929658C> T null V M 165 165 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs373670376 19q13.31 19 42929655T> G null I L 166 166 missense 0.009 benign 0.16 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1429625346 19q13.31 19 42929654A> C null I S 166 166 missense 0.0 benign 0.25 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs373670376 19q13.31 19 42929655T> C null I V 166 166 missense 0.003 benign 0.41 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1206833404 19q13.31 19 42929651A> T null L * 167 167 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1206833404 19q13.31 19 42929651A> G null L S 167 167 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC rs576100960 19q13.31 19 42929648G> A null T I 168 168 2.0E-4 missense 0.046 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs752367389 19q13.31 19 42929646A> C null C G 169 169 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs752367389 19q13.31 19 42929646A> T null C S 169 169 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs202022082 19q13.31 19 42929642T> C null D G 170 170 2.0E-4 missense 0.492 possibly damaging 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs542582953 19q13.31 19 42929640G> C null P A 171 171 2.0E-4 missense 0.779 possibly damaging 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs937461593 19q13.31 19 42929639G> T null P H 171 171 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs542582953 19q13.31 19 42929640G> A null P S 171 171 2.0E-4 missense 0.426 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,NCI-TCGA,gnomAD rs766310636 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929636T> G null E A 172 172 missense 0.007 benign 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs573713566 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929637C> T null E K 172 172 2.0E-4 missense 0.023 benign 0.13 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs762825959 19q13.31 19 42929634T> C null T A 173 173 missense 0.046 benign 0.12 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs769597166 19q13.31 19 42929633G> A null T I 173 173 missense 0.771 possibly damaging 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs769597166 19q13.31 19 42929633G> C null T S 173 173 missense 0.084 benign 0.11 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs760852328 19q13.31 19 42929631G> A null P S 174 174 missense 0.021 benign 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs200906085 19q13.31 19 42929627T> G null D A 175 175 missense 0.015 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs771589678 19q13.31 19 42929626A> T null D E 175 175 missense 0.253 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs200906085 19q13.31 19 42929627T> C null D G 175 175 missense 0.253 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs772109801 19q13.31 19 42929628C> G null D H 175 175 missense 0.824 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs772109801 19q13.31 19 42929628C> T null D N 175 175 missense 0.015 benign 0.34 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs368973716 19q13.31 19 42929624G> C null A G 176 176 missense 0.423 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs749774073 19q13.31 19 42929625C> T null A T 176 176 missense 0.015 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs200463916 19q13.31 19 42929621C> T null S N 177 177 missense 0.03 benign 0.12 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,NCI-TCGA,TOPMed rs372381292 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929620G> T null S R 177 177 missense 0.089 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs974556832 19q13.31 19 42929618T> C null Y C 178 178 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1282622828 19q13.31 19 42929619A> C null Y D 178 178 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs375777371 19q13.31 19 42929615A> T null L Q 179 179 missense 0.031 benign 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1287485775 19q13.31 19 42929616G> C null L V 179 179 missense 0.197 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs751085330 19q13.31 19 42929611C> G null W C 180 180 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs535385603 19q13.31 19 42929612C> G null W S 180 180 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs371931751 19q13.31 19 42929608C> G null W C 181 181 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs566230249 19q13.31 19 42929606A> T null M K 182 182 3.99E-4 missense 0.396 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1372609296 19q13.31 19 42929607T> A null M L 182 182 missense 0.003 benign 0.14 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1372609296 19q13.31 19 42929607T> C null M V 182 182 missense 0.038 benign 0.62 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs764995128 19q13.31 19 42929600C> G null G A 184 184 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1212227495 19q13.31 19 42929601C> T null G S 184 184 missense 0.982 probably damaging 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1331316870 19q13.31 19 42929598G> T null Q K 185 185 missense 0.511 possibly damaging 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs761663898 19q13.31 19 42929595T> A null S C 186 186 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs202133393 19q13.31 19 42929594C> T null S N 186 186 missense 0.028 benign 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs373212271 19q13.31 19 42929592G> A null L F 187 187 missense 0.967 probably damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs373212271 19q13.31 19 42929592G> T null L I 187 187 missense 0.853 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142253248 19q13.31 19 42929584C> A null M I 189 189 0.01378 missense 0.037 benign 0.53 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142253248 19q13.31 19 42929584C> G null M I 189 189 0.01378 missense 0.037 benign 0.53 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142253248 19q13.31 19 42929584C> T null M I 189 189 0.01378 missense 0.037 benign 0.53 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs749859865 19q13.31 19 42929586T> G null M L 189 189 missense 0.015 benign 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs749859865 19q13.31 19 42929586T> C null M V 189 189 missense 0.0 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs781355956 19q13.31 19 42929583T> A null T S 190 190 missense 0.028 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1001705635 19q13.31 19 42929580G> T null H N 191 191 missense 0.211 benign 0.4 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs746631122 19q13.31 19 42929578G> C null H Q 191 191 missense 0.022 benign 0.47 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs754654498 19q13.31 19 42929579T> C null H R 191 191 missense 0.007 benign 0.79 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs907403306 19q13.31 19 42929576C> T null S N 192 192 missense 0.185 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs757886695 19q13.31 19 42929575G> C null S R 192 192 missense 0.0 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs750394353 19q13.31 19 42929574A> T null L M 193 193 missense 0.273 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs765224600 19q13.31 19 42929571G> T null Q K 194 194 missense 0.007 benign 0.18 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs757083003 19q13.31 19 42929567A> G null L P 195 195 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs757083003 19q13.31 19 42929567A> T null L Q 195 195 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs759879897 19q13.31 19 42929564G> C null S C 196 196 missense 0.967 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs763943548 19q13.31 19 42929565A> G null S P 196 196 missense 0.106 benign 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs774693930 19q13.31 19 42929559T> C null T A 198 198 missense 0.012 benign 0.11 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs891520998 19q13.31 19 42929558G> C null T S 198 198 missense 0.012 benign 0.34 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs766623408 19q13.31 19 42929555T> C null N S 199 199 missense 0.61 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1347814470 19q13.31 19 42929553T> C null R G 200 200 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs773103511 19q13.31 19 42929549G> T null T N 201 201 missense 0.691 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs374118688 19q13.31 19 42929550T> A null T S 201 201 missense 0.077 benign 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs935636178 19q13.31 19 42929547G> A null L F 202 202 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs770350520 19q13.31 19 42929546A> C null L R 202 202 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed rs768983549 19q13.31 19 42929543T> A null Y F 203 203 missense 0.0 benign 0.5 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs777091929 19q13.31 19 42929544A> T null Y N 203 203 missense 0.062 benign 0.17 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1478971337 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929541G> T null L I 204 204 missense 0.028 benign 0.17 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC rs779673017 19q13.31 19 42929540A> C null L R 204 204 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1170533206 19q13.31 19 42929538A> G null F L 205 205 missense 0.007 benign 0.73 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141236309 19q13.31 19 42929535C> A null G C 206 206 0.01138 missense 0.993 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1466301026 19q13.31 19 42929531A> G null V A 207 207 missense 0.113 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs745396622 19q13.31 19 42929528G> T null T K 208 208 missense 0.747 possibly damaging 0.05 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146569565 19q13.31 19 42929524G> C null N K 209 209 0.004393 missense 0.0 benign 0.85 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1237945001 19q13.31 19 42929525T> C null N S 209 209 missense 0.039 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1237945001 19q13.31 19 42929525T> G null N T 209 209 missense 0.085 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374257967 19q13.31 19 42929522T> C null Y C 210 210 2.0E-4 missense 0.669 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs550040577 19q13.31 19 42929523A> C null Y D 210 210 2.0E-4 missense 0.001 benign 0.58 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs370090831 19q13.31 19 42929519G> A null T I 211 211 missense 0.003 benign 0.26 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201242604 19q13.31 19 42929511G> T null P T 214 214 2.0E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs763030433 19q13.31 19 42929505C> T null E K 216 216 missense 0.885 possibly damaging 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs763030433 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929505C> G null E Q 216 216 missense 0.421 benign 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1284180593 19q13.31 19 42929502A> G null C R 217 217 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1284180593 19q13.31 19 42929502A> T null C S 217 217 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1446448339 19q13.31 19 42929501C> T null C Y 217 217 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1347104444 19q13.31 19 42929499C> A null E * 218 218 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1456221052 19q13.31 19 42929498T> C null E G 218 218 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200085125 19q13.31 19 42929492C> T null R Q 220 220 0.001198 missense 0.056 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374848791 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929493G> A null R W 220 220 3.99E-4 missense 0.077 benign 0.11 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs762428075 19q13.31 19 42929489T> C null N S 221 221 missense 0.737 possibly damaging 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs531432163 19q13.31 19 42929487G> C null P A 222 222 3.99E-4 missense 0.011 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1414222098 19q13.31 19 42929486G> A null P L 222 222 missense 0.272 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs531432163 19q13.31 19 42929487G> A null P S 222 222 3.99E-4 missense 0.019 benign 0.12 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs531432163 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929487G> T null P T 222 222 3.99E-4 missense 0.272 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1471732447 19q13.31 19 42929483A> C null V G 223 223 missense 0.007 benign 0.11 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs761031836 19q13.31 19 42929484C> G null V L 223 223 missense 0.138 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1208756255 19q13.31 19 42929480C> T null S N 224 224 missense 0.018 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1172625067 19q13.31 19 42929477G> A null A V 225 225 missense 0.966 probably damaging 0.22 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs369383860 19q13.31 19 42929473G> C null S R 226 226 missense 0.343 benign 0.24 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376395338 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929472G> A null R C 227 227 2.0E-4 missense 0.029 benign 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs200257675 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929471C> T null R H 227 227 missense 0.029 benign 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs200257675 19q13.31 19 42929471C> A null R L 227 227 missense 0.41 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs200257675 19q13.31 19 42929471C> G null R P 227 227 missense 0.866 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs752558203 19q13.31 19 42929463G> C null P A 230 230 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1385202605 19q13.31 19 42929462G> T null P Q 230 230 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs573676412 19q13.31 19 42929460C> A null V F 231 231 5.99E-4 missense 0.028 benign 0.18 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1298446703 19q13.31 19 42929456G> A null T I 232 232 missense 0.999 probably damaging 0.11 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 Ensembl rs1568457002 19q13.31 19 42929457T> A null T S 232 232 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1434413047 19q13.31 19 42929454G> C null L V 233 233 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1462148959 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42929448G> T null L I 235 235 missense 0.596 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1462148959 19q13.31 19 42929448G> C null L V 235 235 missense 0.163 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1315621349 19q13.31 19 42929445G> C null L V 236 236 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200513015 19q13.31 19 42926716G> A null P L 237 237 0.001797 missense 0.001 benign 0.63 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200513015 19q13.31 19 42926716G> T null P Q 237 237 0.001797 missense 0.025 benign 0.29 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs373134042 19q13.31 19 42929442G> A null P S 237 237 missense 0.015 benign 0.41 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs376303111 19q13.31 19 42926710A> G null L P 239 239 missense 0.098 benign 0.22 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs376303111 19q13.31 19 42926710A> C null L R 239 239 missense 0.894 possibly damaging 0.15 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs779848088 19q13.31 19 42926711G> C null L V 239 239 missense 0.452 possibly damaging 0.47 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371245756 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926708G> A null P S 240 240 missense 0.104 benign 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs767915281 19q13.31 19 42926702G> A null P S 242 242 missense 0.991 probably damaging 0.12 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144994700 19q13.31 19 42926692G> A null T I 245 245 0.004593 missense 0.106 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1304682274 19q13.31 19 42926693T> A null T S 245 245 missense 0.121 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144994700 19q13.31 19 42926692G> C null T S 245 245 0.004593 missense 0.121 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1373893966 19q13.31 19 42926686T> C null N S 247 247 missense 0.026 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs772982693 19q13.31 19 42926684T> C null N D 248 248 missense 0.673 possibly damaging 0.63 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs764904339 19q13.31 19 42926683T> A null N I 248 248 missense 0.787 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs550262219 19q13.31 19 42926682G> T null N K 248 248 missense 0.05 benign 0.17 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs375599333 19q13.31 19 42926680A> C null L * 249 249 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs776144914 19q13.31 19 42926676G> C null N K 250 250 missense 0.015 benign 0.92 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs776144914 19q13.31 19 42926676G> T null N K 250 250 missense 0.015 benign 0.92 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115824313 19q13.31 19 42926674G> T null P H 251 251 0.005391 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115824313 19q13.31 19 42926674G> A null P L 251 251 0.005391 missense 1.0 probably damaging 0.11 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs768499882 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926675G> A null P S 251 251 missense 0.999 probably damaging 0.65 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs768499882 19q13.31 19 42926675G> T null P T 251 251 missense 1.0 probably damaging 0.33 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1188936887 19q13.31 19 42926668T> G null E A 253 253 missense 0.971 probably damaging 0.45 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1370553446 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926669C> T null E K 253 253 missense 0.971 probably damaging 0.3 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs769937860 19q13.31 19 42926665T> A null N I 254 254 missense 0.813 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs748241812 19q13.31 19 42926664A> C null N K 254 254 missense 0.031 benign 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs769937860 19q13.31 19 42926665T> G null N T 254 254 missense 0.562 possibly damaging 0.21 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1465537545 19q13.31 19 42926659T> A null D V 256 256 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs781287687 19q13.31 19 42926656A> T null V D 257 257 missense 0.981 probably damaging 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1047241255 19q13.31 19 42926657C> T null V I 257 257 missense 0.101 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1047241255 19q13.31 19 42926657C> G null V L 257 257 missense 0.596 possibly damaging 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs373637874 19q13.31 19 42926653G> C null S * 258 258 2.0E-4 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs373637874 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926653G> A null S L 258 258 2.0E-4 missense 0.0 benign 0.49 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs558901117 19q13.31 19 42926651T> C null T A 259 259 2.0E-4 missense 0.003 benign 0.95 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs199532805 19q13.31 19 42926650G> A null T I 259 259 missense 0.255 benign 0.24 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs199532805 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926650G> T null T N 259 259 missense 0.007 benign 0.28 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1309995985 19q13.31 19 42926647A> G null F S 260 260 missense 0.936 probably damaging 0.15 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs764991861 19q13.31 19 42926644G> A null T I 261 261 missense 0.16 benign 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs764991861 19q13.31 19 42926644G> C null T S 261 261 missense 0.873 possibly damaging 0.71 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs753319277 19q13.31 19 42926639C> A null E * 263 263 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1393337003 19q13.31 19 42926637T> A null E D 263 263 missense 0.749 possibly damaging 0.39 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs764010472 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926631C> G null K N 265 265 missense 0.777 possibly damaging 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1164142217 19q13.31 19 42926632T> G null K T 265 265 missense 0.777 possibly damaging 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC rs763629130 19q13.31 19 42926627C> A null E * 267 267 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148409438 19q13.31 19 42926625C> G null E D 267 267 0.01518 missense 0.341 benign 0.24 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370550859 19q13.31 19 42926626T> C null E G 267 267 3.99E-4 missense 0.419 benign 0.17 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1247475991 19q13.31 19 42926623T> C null N S 268 268 missense 0.702 possibly damaging 0.22 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144458417 19q13.31 19 42926620T> C null Y C 269 269 0.01518 missense 0.93 probably damaging 0.14 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200894057 19q13.31 19 42926621A> C null Y D 269 269 5.99E-4 missense 0.826 possibly damaging 0.16 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1256173075 19q13.31 19 42926618T> C null T A 270 270 missense 0.028 benign 0.44 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1355341371 19q13.31 19 42926613G> T null Y * 271 271 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373188786 19q13.31 19 42926612T> C null I V 272 272 2.0E-4 missense 0.061 benign 0.51 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,NCI-TCGA,gnomAD rs768761409 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.31 19 42926607C> T null W * 273 273 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs768761409 19q13.31 19 42926607C> G null W C 273 273 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1230505897 19q13.31 19 42926609A> T null W R 273 273 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs573069342 19q13.31 19 42926608C> G null W S 273 273 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs747533285 19q13.31 19 42926604C> T null W * 274 274 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1452724936 19q13.31 19 42926606A> G null W R 274 274 missense 1.0 probably damaging 0.39 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1332419997 19q13.31 19 42926603G> T null L I 275 275 missense 0.073 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1324651434 19q13.31 19 42926600T> G null N H 276 276 missense 0.776 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs780708428 19q13.31 19 42926598A> T null N K 276 276 missense 0.011 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs780708428 19q13.31 19 42926598A> C null N K 276 276 missense 0.011 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1324651434 19q13.31 19 42926600T> A null N Y 276 276 missense 0.837 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs191124850 19q13.31 19 42926596C> G null G A 277 277 missense 0.61 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs758913257 19q13.31 19 42926597C> A null G C 277 277 missense 0.159 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,NCI-TCGA,gnomAD rs191124850 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926596C> T null G D 277 277 missense 0.104 benign 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs369439425 19q13.31 19 42926592C> G null Q H 278 278 missense 0.018 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1433071961 19q13.31 19 42926593T> G null Q P 278 278 missense 0.522 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs763568560 19q13.31 19 42926588G> A null L F 280 280 missense 1.0 probably damaging 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC rs760229173 19q13.31 19 42926587A> G null L P 280 280 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs767455806 19q13.31 19 42926584G> A null P L 281 281 missense 0.03 benign 0.16 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,NCI-TCGA,gnomAD rs752082896 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926585G> A null P S 281 281 missense 0.857 possibly damaging 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1346237400 19q13.31 19 42926569A> G null V A 286 286 missense 0.389 benign 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs201389302 19q13.31 19 42926570C> T null V I 286 286 2.0E-4 missense 0.273 benign 0.42 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs201389302 19q13.31 19 42926570C> G null V L 286 286 2.0E-4 missense 0.028 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs201389302 19q13.31 19 42926570C> A null V L 286 286 2.0E-4 missense 0.028 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200153986 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.31 19 42926564G> A null R * 288 288 2.0E-4 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs181621391 19q13.31 19 42926563C> T null R Q 288 288 2.0E-4 missense 0.027 benign 0.43 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs775658996 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926561G> A null R C 289 289 missense 0.594 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs191942944 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926560C> T null R H 289 289 0.001198 missense 0.493 possibly damaging 0.18 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs191942944 19q13.31 19 42926560C> G null R P 289 289 0.001198 missense 0.0 benign 0.42 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs775658996 19q13.31 19 42926561G> T null R S 289 289 missense 0.003 benign 0.24 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs779468820 19q13.31 19 42926557A> G null I T 290 290 missense 0.011 benign 0.43 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs951583786 19q13.31 19 42926549T> C null R G 293 293 missense 0.888 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1410985783 19q13.31 19 42926548C> A null R M 293 293 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1306683789 19q13.31 19 42926545A> T null I N 294 294 missense 0.807 possibly damaging 0.48 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1355353651 19q13.31 19 42926540T> A null I F 296 296 missense 0.025 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1393066409 19q13.31 19 42926537G> C null L V 297 297 missense 0.596 possibly damaging 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs528891743 19q13.31 19 42926533G> A null P L 298 298 2.0E-4 missense 0.767 possibly damaging 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC rs752275198 19q13.31 19 42926531T> C null S G 299 299 missense 0.005 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs766975312 19q13.31 19 42926530C> T null S N 299 299 missense 0.018 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs766975312 19q13.31 19 42926530C> G null S T 299 299 missense 0.272 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1479779366 19q13.31 19 42926528C> T null V I 300 300 missense 0.044 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1426962347 19q13.31 19 42926525T> C null T A 301 301 missense 0.412 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs535481675 19q13.31 19 42926524G> A null T M 301 301 missense 0.306 benign 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs762808508 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926521C> A null R I 302 302 missense 0.956 probably damaging 0.18 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs762808508 19q13.31 19 42926521C> G null R T 302 302 missense 0.913 probably damaging 0.67 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1199527916 19q13.31 19 42926512G> A null T I 305 305 missense 0.877 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1278705562 19q13.31 19 42926513T> G null T P 305 305 missense 0.908 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs772821940 19q13.31 19 42926510C> G null G R 306 306 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1434400062 19q13.31 19 42926509C> A null G V 306 306 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1001685776 19q13.31 19 42926506G> A null P L 307 307 missense 1.0 probably damaging 0.78 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1229350211 19q13.31 19 42926507G> A null P S 307 307 missense 0.999 probably damaging 0.58 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1287069707 19q13.31 19 42926502A> T null Y * 308 308 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs574769913 19q13.31 19 42926501G> A null Q * 309 309 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs574769913 19q13.31 19 42926501G> C null Q E 309 309 missense 0.003 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs527999433 19q13.31 19 42926500T> C null Q R 309 309 2.0E-4 missense 0.023 benign 0.37 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1413007456 19q13.31 19 42926498A> C null C G 310 310 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1160135460 19q13.31 19 42926494T> C null E G 311 311 missense 0.836 possibly damaging 0.33 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs749676966 19q13.31 19 42926488C> T null R Q 313 313 missense 0.045 benign 0.29 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376480204 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926489G> A null R W 313 313 missense 0.039 benign 0.23 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs747771266 19q13.31 19 42926485T> C null D G 314 314 missense 0.61 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111753727 19q13.31 19 42926486C> T null D N 314 314 0.008586 missense 0.044 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs751567313 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.31 19 42926483G> A null R * 315 315 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs751567313 19q13.31 19 42926483G> C null R G 315 315 missense 0.001 benign 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1201678064 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926482C> T null R Q 315 315 missense 0.013 benign 0.21 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs750261004 19q13.31 19 42926478A> T null Y * 316 316 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs368588330 19q13.31 19 42926480A> G null Y H 316 316 missense 0.828 possibly damaging 0.28 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs368588330 19q13.31 19 42926480A> T null Y N 316 316 missense 0.543 possibly damaging 0.16 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs764906705 19q13.31 19 42926477C> G null G R 317 317 missense 0.945 probably damaging 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC rs761005611 19q13.31 19 42926471T> G null I L 319 319 missense 0.007 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs775839219 19q13.31 19 42926470A> G null I T 319 319 missense 0.197 benign 0.76 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200486902 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926468G> A null R C 320 320 0.001398 missense 0.765 possibly damaging 0.25 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs759691674 19q13.31 19 42926467C> T null R H 320 320 missense 0.007 benign 0.5 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs576270742 19q13.31 19 42926462C> T null D N 322 322 3.99E-4 missense 0.015 benign 0.78 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs576270742 19q13.31 19 42926462C> A null D Y 322 322 3.99E-4 missense 0.015 benign 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs556238390 19q13.31 19 42926459G> C null P A 323 323 2.0E-4 missense 0.558 possibly damaging 0.37 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368339915 19q13.31 19 42926458G> A null P L 323 323 3.99E-4 missense 0.913 probably damaging 0.41 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368339915 19q13.31 19 42926458G> T null P Q 323 323 3.99E-4 missense 0.935 probably damaging 0.19 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368339915 19q13.31 19 42926458G> C null P R 323 323 3.99E-4 missense 0.934 probably damaging 0.31 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs556238390 19q13.31 19 42926459G> A null P S 323 323 2.0E-4 missense 0.31 benign 0.29 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374985874 19q13.31 19 42926452G> A null T I 325 325 3.99E-4 missense 0.106 benign 0.1 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374985874 19q13.31 19 42926452G> T null T N 325 325 3.99E-4 missense 0.877 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs750304418 19q13.31 19 42926444C> T null V I 328 328 missense 0.607 possibly damaging 0.31 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 Ensembl,NCI-TCGA rs111443232 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926441G> A null L F 329 329 missense 0.833 possibly damaging 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs377303709 19q13.31 19 42926027T> C null Y C 330 330 missense 0.905 possibly damaging 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1162552087 19q13.31 19 42926438A> G null Y H 330 330 missense 0.015 benign 0.29 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs531896547 19q13.31 19 42926025C> T null G S 331 331 2.0E-4 missense 0.994 probably damaging 0.33 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed rs755963234 19q13.31 19 42926021G> A null P L 332 332 missense 0.075 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs777761847 19q13.31 19 42926022G> A null P S 332 332 missense 0.426 benign 0.12 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs780420579 19q13.31 19 42926018T> C null D G 333 333 missense 0.987 probably damaging 0.23 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1431635954 19q13.31 19 42926019C> T null D N 333 333 missense 0.987 probably damaging 0.05 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs202023594 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42926016G> A null L F 334 334 0.004193 missense 0.937 probably damaging 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs780147960 19q13.31 19 42926015A> C null L R 334 334 missense 0.937 probably damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1479737303 19q13.31 19 42926012G> T null P H 335 335 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1479737303 19q13.31 19 42926012G> A null P L 335 335 missense 0.846 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1205049115 19q13.31 19 42926013G> A null P S 335 335 missense 0.728 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1382524640 19q13.31 19 42926010T> C null R G 336 336 missense 0.007 benign 0.22 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs758592278 19q13.31 19 42926009C> A null R I 336 336 missense 0.305 benign 0.19 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs758592278 19q13.31 19 42926009C> T null R K 336 336 missense 0.015 benign 0.95 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed rs750496172 19q13.31 19 42926008T> G null R S 336 336 missense 0.001 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs377232741 19q13.31 19 42926002G> T null Y * 338 338 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs765266278 19q13.31 19 42926001G> C null P A 339 339 missense 0.591 possibly damaging 0.49 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs765266278 19q13.31 19 42926001G> T null P T 339 339 missense 0.688 possibly damaging 0.05 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs754326999 19q13.31 19 42925988T> G null Y S 343 343 missense 0.031 benign 0.42 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs764507359 19q13.31 19 42925985T> C null Y C 344 344 missense 0.996 probably damaging 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs550723421 19q13.31 19 42925982T> C null H R 345 345 missense 0.0 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1390740732 19q13.31 19 42925979G> C null S * 346 346 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1304016679 19q13.31 19 42925976C> T null G E 347 347 missense 0.995 probably damaging 0.19 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1370541198 19q13.31 19 42925977C> T null G R 347 347 missense 0.86 possibly damaging 0.12 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147075594 19q13.31 19 42925974G> C null Q E 348 348 0.007188 missense 0.0 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs374237647 19q13.31 19 42925971T> C null N D 349 349 missense 0.007 benign 0.58 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs374237647 19q13.31 19 42925971T> G null N H 349 349 missense 0.055 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs774045466 19q13.31 19 42925970T> A null N I 349 349 missense 0.012 benign 0.05 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs372334153 19q13.31 19 42925969G> C null N K 349 349 missense 0.012 benign 0.2 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs368091450 19q13.31 19 42925968G> A null L F 350 350 missense 0.16 benign 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs189458895 19q13.31 19 42925965A> C null Y D 351 351 2.0E-4 missense 0.005 benign 0.65 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs373877960 19q13.31 19 42925961A> C null L W 352 352 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1182482635 19q13.31 19 42925959A> G null S P 353 353 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs780995555 19q13.31 19 42925958G> T null S Y 353 353 missense 0.996 probably damaging 0.13 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs370166436 19q13.31 19 42925956A> G null C R 354 354 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1331039187 19q13.31 19 42925955C> G null C S 354 354 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC rs375664362 19q13.31 19 42925953A> T null F I 355 355 missense 0.023 benign 0.18 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1238257234 19q13.31 19 42925952A> G null F S 355 355 missense 0.007 benign 0.27 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC rs375664362 19q13.31 19 42925953A> C null F V 355 355 missense 0.087 benign 0.23 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200190947 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42925949G> A null A V 356 356 missense 0.08 benign 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1423068289 19q13.31 19 42925946T> G null D A 357 357 missense 0.341 benign 0.05 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1381372530 19q13.31 19 42925941T> G null N H 359 359 missense 0.061 benign 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1189533695 19q13.31 19 42925940T> C null N S 359 359 missense 0.81 possibly damaging 0.15 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs764597205 19q13.31 19 42925938G> T null P T 360 360 missense 1.0 probably damaging 0.28 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs184944789 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42925934G> A null P L 361 361 2.0E-4 missense 0.012 benign 0.18 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs184944789 19q13.31 19 42925934G> T null P Q 361 361 2.0E-4 missense 0.615 possibly damaging 0.21 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs184944789 19q13.31 19 42925934G> C null P R 361 361 2.0E-4 missense 0.049 benign 0.2 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1436744299 19q13.31 19 42925935G> T null P T 361 361 missense 0.419 benign 0.23 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs751735611 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42925929G> C null Q E 363 363 missense 0.003 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1166083318 19q13.31 19 42925927C> G null Q H 363 363 missense 0.694 possibly damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs751246055 19q13.31 19 42925928T> C null Q R 363 363 missense 0.197 benign 0.12 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1444152634 19q13.31 19 42925926A> G null Y H 364 364 missense 0.248 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs373181304 19q13.31 19 42925923A> C null S A 365 365 missense 0.325 benign 0.53 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs373181304 19q13.31 19 42925923A> G null S P 365 365 missense 0.876 possibly damaging 0.21 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs769645408 19q13.31 19 42925918C> T null W * 366 366 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs772794083 19q13.31 19 42925919C> T null W * 366 366 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs769645408 19q13.31 19 42925918C> G null W C 366 366 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs762560267 19q13.31 19 42925920A> G null W R 366 366 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs772794083 19q13.31 19 42925919C> G null W S 366 366 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1233824638 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42925916G> A null T I 367 367 missense 0.755 possibly damaging 0.41 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs761774520 19q13.31 19 42925913A> T null I N 368 368 missense 0.876 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1484752302 19q13.31 19 42925910T> C null N S 369 369 missense 0.737 possibly damaging 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201797371 19q13.31 19 42925908C> T null G R 370 370 3.99E-4 missense 0.31 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1358190330 19q13.31 19 42925907C> A null G V 370 370 missense 0.935 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,TOPMed,gnomAD rs377573647 19q13.31 19 42925897C> G null Q H 373 373 missense 0.037 benign 0.12 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs746139982 19q13.31 19 42925898T> C null Q R 373 373 missense 0.419 benign 0.71 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1380936369 19q13.31 19 42925895A> G null L P 374 374 missense 0.697 possibly damaging 0.14 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1380936369 19q13.31 19 42925895A> T null L Q 374 374 missense 0.007 benign 0.49 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1317160164 19q13.31 19 42925896G> C null L V 374 374 missense 0.197 benign 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs192816757 19q13.31 19 42925892G> T null S * 375 375 2.0E-4 stop gained 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs192816757 19q13.31 19 42925892G> A null S L 375 375 2.0E-4 missense 0.025 benign 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs374874463 19q13.31 19 42925889C> T null G E 376 376 missense 0.948 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs368995857 19q13.31 19 42925890C> T null G R 376 376 missense 0.975 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs368995857 19q13.31 19 42925890C> G null G R 376 376 missense 0.975 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1359132098 19q13.31 19 42925883T> C null K R 378 378 missense 0.197 benign 0.64 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1372759163 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42925877G> A null S F 380 380 missense 0.003 benign 0.86 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs753225932 19q13.31 19 42925873G> C null I M 381 381 missense 0.975 probably damaging 0.07 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1445123383 19q13.31 19 42925874A> T null I N 381 381 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs141770392 19q13.31 19 42925871G> A null P L 382 382 2.0E-4 missense 0.691 possibly damaging 0.41 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs141770392 19q13.31 19 42925871G> C null P R 382 382 2.0E-4 missense 0.046 benign 0.31 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs781468442 19q13.31 19 42925872G> A null P S 382 382 missense 0.111 benign 0.71 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,TOPMed,gnomAD rs372901622 19q13.31 19 42925867C> G null Q H 383 383 missense 0.018 benign 0.21 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,TOPMed,gnomAD rs372901622 19q13.31 19 42925867C> A null Q H 383 383 missense 0.018 benign 0.21 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs896035334 19q13.31 19 42925868T> G null Q P 383 383 missense 0.697 possibly damaging 0.42 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs766146696 19q13.31 19 42925864A> C null I M 384 384 missense 0.851 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1269293101 19q13.31 19 42925863T> G null T P 385 385 missense 0.981 probably damaging 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs749988632 19q13.31 19 42925860T> C null T A 386 386 missense 0.138 benign 0.08 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs188664466 19q13.31 19 42925859G> A null T I 386 386 missense 0.055 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs188664466 19q13.31 19 42925859G> T null T K 386 386 missense 0.012 benign 0.37 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs188664466 19q13.31 19 42925859G> C null T R 386 386 missense 0.012 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs768409955 19q13.31 19 42925857T> C null K E 387 387 missense 0.034 benign 0.96 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs760475735 19q13.31 19 42925855C> A null K N 387 387 missense 0.011 benign 0.83 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs200831633 19q13.31 19 42925853T> C null H R 388 388 missense 0.796 possibly damaging 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs573034811 19q13.31 19 42925849G> T null S R 389 389 2.0E-4 missense 0.02 benign 0.18 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed rs1486012825 19q13.31 19 42925850C> G null S T 389 389 missense 0.034 benign 0.43 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs373375784 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42925848C> T null G R 390 390 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs373375784 19q13.31 19 42925848C> G null G R 390 390 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 Ensembl rs772522854 19q13.31 19 42925847C> A null G V 390 390 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs769904974 19q13.31 19 42925844A> G null L P 391 391 missense 0.099 benign 0.29 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs748671882 19q13.31 19 42925841T> C null Y C 392 392 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs755385661 19q13.31 19 42925839C> G null A P 393 393 missense 0.625 possibly damaging 0.28 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs755385661 19q13.31 19 42925839C> A null A S 393 393 missense 0.272 benign 0.69 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs371998590 19q13.31 19 42925838G> A null A V 393 393 missense 0.011 benign 0.64 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs780530486 19q13.31 19 42925835C> G null C S 394 394 missense 0.674 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147949753 19q13.31 19 42925830C> A null V F 396 396 0.001597 missense 0.776 possibly damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147949753 19q13.31 19 42925830C> T null V I 396 396 0.001597 missense 0.026 benign 0.39 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147949753 19q13.31 19 42925830C> G null V L 396 396 0.001597 missense 0.167 benign 0.02 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs756793511 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42925827G> A null R C 397 397 missense 0.91 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs573042386 19q13.31 19 42925826C> T null R H 397 397 2.0E-4 missense 0.015 benign 0.25 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs573042386 19q13.31 19 42925826C> G null R P 397 397 2.0E-4 missense 0.899 possibly damaging 0.04 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1223325863 19q13.31 19 42925821A> G null S P 399 399 missense 0.011 benign 0.45 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,gnomAD rs552749458 19q13.31 19 42925815T> A null T S 401 401 2.0E-4 missense 0.971 probably damaging 0.73 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184492103 19q13.31 19 42925811C> T null G D 402 402 3.99E-4 missense 0.961 probably damaging 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1335251274 19q13.31 19 42925808T> A null K M 403 403 missense 0.015 benign 0.09 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 Ensembl,NCI-TCGA rs151272638 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42925806C> T null E K 404 404 missense 0.079 benign 0.2 tolerated 1 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs767277947 19q13.31 19 42925802C> A null S I 405 405 missense 0.011 benign 0.37 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs367788662 19q13.31 19 42925801G> C null S R 405 405 missense 0.549 possibly damaging 0.4 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs367788662 19q13.31 19 42925801G> T null S R 405 405 missense 0.549 possibly damaging 0.4 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs550180319 19q13.31 19 42925800A> C null S A 406 406 3.99E-4 missense 0.322 benign 0.05 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs776528210 19q13.31 19 42925793G> C null S C 408 408 missense 0.873 possibly damaging 0.2 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs747491077 19q13.31 19 42925791C> G null V L 409 409 missense 0.003 benign 0.4 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs747491077 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42925791C> T null V M 409 409 missense 0.015 benign 0.1 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs767098177 19q13.31 19 42925788T> G null T P 410 410 missense 0.773 possibly damaging 0.18 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1349014238 19q13.31 19 42925782T> C null R G 412 412 missense 0.026 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs763480574 19q13.31 19 42925781C> T null R K 412 412 missense 0.0 benign 1.0 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1202628325 19q13.31 19 42925778A> G null V A 413 413 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs370280963 19q13.31 19 42925779C> T null V I 413 413 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs767367825 19q13.31 19 42925775G> C null S C 414 414 missense 0.819 possibly damaging 0.01 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,TOPMed,gnomAD rs767367825 19q13.31 19 42925775G> A null S F 414 414 missense 0.018 benign 0.06 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1270338701 19q13.31 19 42925776A> G null S P 414 414 missense 0.007 benign 0.12 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,NCI-TCGA,TOPMed,gnomAD rs773962473 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.31 19 42925773C> A null G C 415 415 missense 0.761 possibly damaging 0.11 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs765521190 19q13.31 19 42925767A> G null W R 417 417 missense 0.001 benign 0.14 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs776815774 19q13.31 19 42925758C> G null A P 420 420 missense 0.003 benign 0.12 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs776815774 19q13.31 19 42925758C> T null A T 420 420 missense 0.003 benign 0.59 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1403646751 19q13.31 19 42925754G> C null S C 421 421 missense 0.003 benign 0.05 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 TOPMed,gnomAD rs1403646751 19q13.31 19 42925754G> A null S F 421 421 missense 0.455 possibly damaging 0.03 deleterious 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs141117526 19q13.31 19 42925755A> G null S P 421 421 9.98E-4 missense 0.45 possibly damaging 0.12 tolerated 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 gnomAD rs1407223667 19q13.31 19 42925749C> G null A P 423 423 missense 0.017 benign 0.02 deleterious - low confidence 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ExAC,gnomAD rs776141746 19q13.31 19 42925748G> A null A V 423 423 missense 0.683 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs375410668 19q13.31 19 42925742C> T null G E 425 425 missense 0.014 benign 0.14 tolerated - low confidence 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs151140791 19q13.31 19 42925743C> G null G R 425 425 2.0E-4 missense 0.506 possibly damaging 0.05 tolerated - low confidence 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 ESP,ExAC,TOPMed,gnomAD rs375410668 19q13.31 19 42925742C> A null G V 425 425 missense 0.292 benign 0.08 tolerated - low confidence 0 A0A087WT09 PSG7 Putative pregnancy-specific beta-1-glycoprotein 7 1000Genomes,ExAC,TOPMed,gnomAD rs151140791 19q13.31 19 42925743C> A null G W 425 425 2.0E-4 missense 0.845 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1413440517 1p36.22 1 10431299A> G null R G 4 4 missense 0.773 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs1173568747 1p36.22 1 10431300G> A null R K 4 4 missense 0.578 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1188714645 1p36.22 1 10431306G> A null G E 6 6 missense 0.438 benign 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs1005903903 1p36.22 1 10431308A> G null S G 7 7 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1319708858 1p36.22 1 10431313C> G null F L 8 8 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S Ensembl rs543376723 1p36.22 1 10431312T> C null F S 8 8 missense 0.826 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1343230695 1p36.22 1 10431314C> G null L V 9 9 missense 0.021 benign 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S Ensembl rs762561974 1p36.22 1 10431320A> G null T A 11 11 missense 0.807 possibly damaging 0.48 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs750815358 1p36.22 1 10431333G> T null C F 15 15 missense 0.922 probably damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs969935010 1p36.22 1 10431335A> G null S G 16 16 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1198038657 1p36.22 1 10431336G> C null S T 16 16 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs1013275857 1p36.22 1 10431339G> A null S N 17 17 missense 0.691 possibly damaging 0.11 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1325998685 1p36.22 1 10431341T> C null C R 18 18 missense 0.922 probably damaging 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs1204527684 1p36.22 1 10431344C> G null L V 19 19 missense 0.807 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1470892360 1p36.22 1 10431348C> G null P R 20 20 missense 0.973 probably damaging 0.12 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs928469217 1p36.22 1 10431347C> T null P S 20 20 missense 0.935 probably damaging 0.18 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs1185663282 1p36.22 1 10431354C> T null P L 22 22 missense 0.02 benign 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1445639868 1p36.22 1 10431353C> T null P S 22 22 missense 0.02 benign 0.05 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs766025457 1p36.22 1 10431360C> A null S Y 24 24 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs1021072820 1p36.22 1 10431378C> T null P L 30 30 missense 0.856 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1218335035 1p36.22 1 10431383G> C null E Q 32 32 missense 0.617 possibly damaging 0.08 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1480383216 1p36.22 1 10431392C> T null Q * 35 35 stop gained 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1196740512 1p36.22 1 10431400C> A null H Q 37 37 missense 0.02 benign 0.27 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs1415759765 1p36.22 1 10431399A> G null H R 37 37 missense 0.009 benign 0.31 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs1178701188 1p36.22 1 10431401G> A null E K 38 38 missense 0.807 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs776280391 1p36.22 1 10434661T> G null N K 39 39 missense 0.864 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs1315943409 1p36.22 1 10434665G> T null A S 41 41 missense 0.871 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1236669444 1p36.22 1 10434668A> G null K E 42 42 missense 0.807 possibly damaging 0.11 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1262270291 1p36.22 1 10434669A> C null K T 42 42 missense 0.864 possibly damaging 0.13 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs767387831 1p36.22 1 10434672A> G null D G 43 43 missense 0.911 probably damaging 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs912830757 1p36.22 1 10434677G> A null E K 45 45 missense 0.807 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs750311230 1p36.22 1 10434684T> C null F S 47 47 missense 0.826 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs1022199082 1p36.22 1 10440349A> T null H L 50 50 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs759332241 1p36.22 1 10440352C> G null A G 51 51 missense 0.015 benign 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs759332241 1p36.22 1 10440352C> T null A V 51 51 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC rs764240936 cosmic curated [Cosmic]: endometrium cosmic_study:419 1p36.22 1 10440358G> T null R I 53 53 missense 0.887 possibly damaging 0.0 deleterious - low confidence 1 A0A087WT10 CENPS-CORT Centromere protein S 1000Genomes,ExAC,TOPMed,gnomAD rs532766341 1p36.22 1 10440360A> G null T A 54 54 3.99E-4 missense 0.009 benign 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs757318799 1p36.22 1 10440366A> G null I V 56 56 missense 0.0 benign 0.18 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1427108937 1p36.22 1 10440369A> G null N D 57 57 missense 0.014 benign 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1353433052 1p36.22 1 10440373C> T null T I 58 58 missense 0.936 probably damaging 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs751031592 1p36.22 1 10440380T> A null D E 60 60 missense 0.871 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs781419942 1p36.22 1 10440379A> G null D G 60 60 missense 0.911 probably damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs756706344 1p36.22 1 10440381G> A null V M 61 61 missense 0.937 probably damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs1392276413 1p36.22 1 10440385A> C null K T 62 62 missense 0.864 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs985612325 1p36.22 1 10440387C> T null L F 63 63 missense 0.218 benign 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1312602360 1p36.22 1 10440391T> A null L * 64 64 stop gained 0 A0A087WT10 CENPS-CORT Centromere protein S ESP,ExAC,TOPMed,gnomAD rs200990277 1p36.22 1 10440397G> T null R M 66 66 missense 0.463 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs778481415 1p36.22 1 10440401G> T null R S 67 67 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs769016660 1p36.22 1 10440400G> C null R T 67 67 missense 0.02 benign 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs747807447 1p36.22 1 10440402A> G null S G 68 68 missense 0.068 benign 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1202467867 1p36.22 1 10440406A> G null N S 69 69 missense 0.049 benign 0.04 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1260190775 1p36.22 1 10451378A> G null H R 72 72 missense 0.061 benign 0.12 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1217036171 1p36.22 1 10451377C> T null H Y 72 72 missense 0.791 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs755207510 1p36.22 1 10451382G> A null M I 73 73 missense 0.012 benign 0.16 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs916016644 1p36.22 1 10451381T> C null M T 73 73 missense 0.043 benign 0.07 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S Ensembl rs991588592 1p36.22 1 10451380A> G null M V 73 73 missense 0.02 benign 0.29 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs1417679085 1p36.22 1 10451384A> G null Q R 74 74 missense 0.57 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ESP,ExAC,gnomAD rs373837353 1p36.22 1 10451390C> T null A V 76 76 missense 0.006 benign 0.72 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs752753240 1p36.22 1 10451399T> G null I R 79 79 missense 0.133 benign 0.02 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S 1000Genomes,ExAC,gnomAD rs547659978 1p36.22 1 10451404A> G null K E 81 81 2.0E-4 missense 0.406 benign 0.02 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs778182842 1p36.22 1 10451408G> C null S T 82 82 missense 0.6 possibly damaging 0.12 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs747513324 1p36.22 1 10451410A> G null S G 83 83 missense 0.023 benign 0.24 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1172416354 1p36.22 1 10451414T> C null L P 84 84 missense 0.991 probably damaging 0.02 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs1167436361 1p36.22 1 10451417T> A null L Q 85 85 missense 0.935 probably damaging 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs771479464 1p36.22 1 10451424C> G null F L 87 87 missense 0.168 benign 0.19 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs781697531 1p36.22 1 10451428G> A null A T 89 89 missense 0.147 benign 0.12 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1280736605 1p36.22 1 10451433G> A null W * 90 90 stop gained 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs894406784 1p36.22 1 10451432G> C null W S 90 90 missense 0.043 benign 0.22 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S Ensembl rs935263406 1p36.22 1 10451439T> G null F L 92 92 missense 0.057 benign 0.45 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs769598738 1p36.22 1 10451443T> A null W R 94 94 missense 0.098 benign 0.14 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1339978674 1p36.22 1 10451453A> T null Q L 97 97 missense 0.647 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1339978674 1p36.22 1 10451453A> G null Q R 97 97 missense 0.061 benign 0.23 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs1398171887 1p36.22 1 10451456C> T null A V 98 98 missense 0.09 benign 0.04 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1280388014 1p36.22 1 10451458A> G null S G 99 99 missense 0.01 benign 0.39 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1318831208 1p36.22 1 10451459G> C null S T 99 99 missense 0.54 possibly damaging 0.11 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1276925206 1p36.22 1 10451462C> T null A V 100 100 missense 0.677 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs774224705 1p36.22 1 10451465G> C null G A 101 101 missense 0.006 benign 1.0 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201158337 1p36.22 1 10451464G> A null G R 101 101 2.0E-4 missense 0.492 possibly damaging 0.08 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1263053952 1p36.22 1 10451467C> T null P S 102 102 missense 0.637 possibly damaging 0.12 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ESP,ExAC,TOPMed rs375844912 1p36.22 1 10451470C> T null L F 103 103 missense 0.015 benign 0.51 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ESP,ExAC,TOPMed rs375844912 1p36.22 1 10451470C> G null L V 103 103 missense 0.415 benign 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs767385934 1p36.22 1 10451474T> A null I K 104 104 missense 0.014 benign 0.26 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1195188816 1p36.22 1 10451475A> G null I M 104 104 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs767385934 1p36.22 1 10451474T> C null I T 104 104 missense 0.0 benign 0.58 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1348505857 1p36.22 1 10451473A> G null I V 104 104 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs201163116 1p36.22 1 10451477G> A null G E 105 105 missense 0.187 benign 0.06 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs906613670 1p36.22 1 10451476G> A null G R 105 105 missense 0.12 benign 0.18 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs201163116 1p36.22 1 10451477G> T null G V 105 105 missense 0.929 probably damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs544551198 1p36.22 1 10451489G> T null R L 109 109 missense 0.173 benign 0.11 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs544551198 1p36.22 1 10451489G> C null R P 109 109 missense 0.742 possibly damaging 0.12 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs544551198 1p36.22 1 10451489G> A null R Q 109 109 missense 0.541 possibly damaging 0.24 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S 1000Genomes,ExAC,TOPMed,gnomAD rs200835553 1p36.22 1 10451488C> T null R W 109 109 2.0E-4 missense 0.025 benign 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ESP,ExAC,TOPMed,gnomAD rs367676737 1p36.22 1 10451493G> T null E D 110 110 missense 0.64 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1158317510 1p36.22 1 10451494G> A null V M 111 111 missense 0.014 benign 0.1 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs751627080 1p36.22 1 10451503C> G null R G 114 114 missense 0.986 probably damaging 0.02 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs199777356 1p36.22 1 10451504G> T null R L 114 114 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs199777356 1p36.22 1 10451504G> A null R Q 114 114 missense 0.975 probably damaging 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs751627080 1p36.22 1 10451503C> T null R W 114 114 missense 0.624 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1341420951 1p36.22 1 10451507A> G null Q R 115 115 missense 0.098 benign 0.06 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs756481798 1p36.22 1 10451512G> A null G S 117 117 missense 0.055 benign 0.28 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs1220131925 1p36.22 1 10451515G> A null A T 118 118 missense 0.024 benign 0.32 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs768113640 1p36.22 1 10451519C> T null P L 119 119 missense 0.061 benign 0.06 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs748969228 1p36.22 1 10451518C> T null P S 119 119 missense 0.099 benign 0.04 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs772029734 1p36.22 1 10451522C> A null P H 120 120 missense 0.77 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs772029734 1p36.22 1 10451522C> T null P L 120 120 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs747591951 1p36.22 1 10451521C> T null P S 120 120 missense 0.405 benign 0.02 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs75501939 1p36.22 1 10451524C> G null Q E 121 121 missense 0.443 benign 0.02 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs75501939 1p36.22 1 10451524C> A null Q K 121 121 missense 0.296 benign 0.07 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs760500441 1p36.22 1 10451525A> G null Q R 121 121 missense 0.041 benign 0.18 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S Ensembl rs41376048 1p36.22 1 10451531C> T null S F 123 123 missense 0.198 benign 0.47 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs766189277 1p36.22 1 10451530T> C null S P 123 123 missense 0.905 possibly damaging 0.52 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs764155114 1p36.22 1 10451534C> A null A E 124 124 missense 0.057 benign 0.02 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S 1000Genomes,ExAC,TOPMed,gnomAD rs550348685 1p36.22 1 10451533G> C null A P 124 124 2.0E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S 1000Genomes,ExAC,TOPMed,gnomAD rs550348685 1p36.22 1 10451533G> A null A T 124 124 2.0E-4 missense 0.0 benign 0.73 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs764155114 1p36.22 1 10451534C> T null A V 124 124 missense 0.015 benign 0.04 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed,gnomAD rs971817390 1p36.22 1 10451536C> T null R C 125 125 missense 0.827 possibly damaging 0.05 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs757361401 1p36.22 1 10451537G> A null R H 125 125 missense 0.065 benign 0.1 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs757361401 1p36.22 1 10451537G> T null R L 125 125 missense 0.041 benign 0.19 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ESP,ExAC,TOPMed,gnomAD rs145148065 1p36.22 1 10451539C> G null R G 126 126 missense 0.773 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs780453865 1p36.22 1 10451540G> T null R L 126 126 missense 0.773 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs780453865 1p36.22 1 10451540G> A null R Q 126 126 missense 0.104 benign 0.19 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ESP,ExAC,TOPMed,gnomAD rs145148065 1p36.22 1 10451539C> T null R W 126 126 missense 0.967 probably damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs754668122 1p36.22 1 10451544C> A null D E 127 127 missense 0.015 benign 0.39 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs754668122 1p36.22 1 10451544C> G null D E 127 127 missense 0.015 benign 0.39 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs749561966 1p36.22 1 10451542G> A null D N 127 127 missense 0.033 benign 0.04 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs749561966 1p36.22 1 10451542G> T null D Y 127 127 missense 0.834 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S 1000Genomes,ExAC,gnomAD rs571865438 1p36.22 1 10451549T> C null M T 129 129 3.99E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs773198534 1p36.22 1 10451552C> T null P L 130 130 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs1412665299 1p36.22 1 10451554T> G null C G 131 131 missense 0.202 benign 0.09 tolerated - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs746947877 1p36.22 1 10451563T> A null F I 134 134 missense 0.957 probably damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,gnomAD rs770711751 1p36.22 1 10451564T> A null F Y 134 134 missense 0.941 probably damaging 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S Ensembl rs1557786922 1p36.22 1 10451576C> T null T I 138 138 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S TOPMed rs1429597640 1p36.22 1 10451575A> C null T P 138 138 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs776489624 1p36.22 1 10451578T> A null F I 139 139 missense 0.886 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S ExAC,TOPMed,gnomAD rs759210368 1p36.22 1 10451579T> C null F S 139 139 missense 0.973 probably damaging 0.01 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S gnomAD rs1179209696 1p36.22 1 10451588G> A null C Y 142 142 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WT10 CENPS-CORT Centromere protein S Ensembl rs993756376 1p36.22 1 10451591A> G null K R 143 143 missense 0.957 probably damaging 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1253942095 19p13.3 19 1104738G> C null G R 2 2 missense 0.748 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1202425764 19p13.3 19 1104747G> A null G S 5 5 missense 0.017 benign 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1279377716 19p13.3 19 1104750G> A null A T 6 6 missense 0.913 probably damaging 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1287698936 19p13.3 19 1104753G> A null G S 7 7 missense 0.036 benign 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs919060538 19p13.3 19 1104757C> T null S F 8 8 missense 0.207 benign 0.6 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs930479449 19p13.3 19 1104759C> T null P S 9 9 missense 0.045 benign 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1375701029 19p13.3 19 1104762G> T null G W 10 10 missense 0.602 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs889042141 19p13.3 19 1104766G> A null R H 11 11 missense 0.923 probably damaging 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs889042141 19p13.3 19 1104766G> C null R P 11 11 missense 0.933 probably damaging 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1323532035 19p13.3 19 1104774C> A null Q K 14 14 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs755894874 19p13.3 19 1104778G> C null R P 15 15 missense 0.975 probably damaging 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1406026346 19p13.3 19 1104777C> T null R W 15 15 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1156934143 19p13.3 19 1104780T> A null C S 16 16 missense 0.0 benign 0.92 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1040467710 19p13.3 19 1104783C> T null Q * 17 17 stop gained 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1381172013 19p13.3 19 1104796G> A null R K 21 21 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase Ensembl rs562299072 19p13.3 19 1104798C> G null R G 22 22 missense 0.123 benign 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1473121186 19p13.3 19 1104801C> T null R W 23 23 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs901589118 19p13.3 19 1104805C> T null P L 24 24 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1181838482 19p13.3 19 1104814C> T null P L 27 27 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs764047352 19p13.3 19 1104817G> C null R P 28 28 missense 0.397 benign 0.13 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1452120605 19p13.3 19 1104816C> T null R W 28 28 missense 0.626 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1355136830 19p13.3 19 1104820G> C null R P 29 29 missense 0.933 probably damaging 0.12 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs757261297 19p13.3 19 1104819C> T null R W 29 29 missense 0.942 probably damaging 0.0 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1309596343 19p13.3 19 1104823G> A null R Q 30 30 missense 0.261 benign 0.17 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs778959445 19p13.3 19 1104828G> A null A T 32 32 missense 0.003 benign 0.4 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1405689947 19p13.3 19 1104831C> G null P A 33 33 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs758625205 19p13.3 19 1104835C> T null A V 34 34 missense 0.001 benign 0.12 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs893286140 19p13.3 19 1104840A> G null R G 36 36 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1296359916 19p13.3 19 1104843C> G null R G 37 37 missense 0.094 benign 0.13 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1333799382 19p13.3 19 1104846A> G null R G 38 38 missense 0.052 benign 0.02 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs747356988 19p13.3 19 1104851G> C null R S 39 39 missense 0.007 benign 0.22 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs768925022 19p13.3 19 1104853C> A null A E 40 40 missense 0.04 benign 0.02 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1422727528 19p13.3 19 1104862G> A null R Q 43 43 missense 0.098 benign 0.03 deleterious - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,TOPMed rs371892333 19p13.3 19 1104865G> A null R Q 44 44 missense 0.776 possibly damaging 0.09 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs777216470 19p13.3 19 1104864C> T null R W 44 44 missense 0.942 probably damaging 0.13 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1276871811 19p13.3 19 1104873C> T null P S 47 47 missense 0.127 benign 0.26 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs759011380 19p13.3 19 1104877G> C null C S 48 48 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs771717955 19p13.3 19 1104879C> G null P A 49 49 missense 0.035 benign 0.52 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs771717955 19p13.3 19 1104879C> T null P S 49 49 missense 0.127 benign 0.23 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs760464236 19p13.3 19 1104883G> A null R H 50 50 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs760464236 19p13.3 19 1104883G> C null R P 50 50 missense 0.015 benign 0.07 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1435329616 19p13.3 19 1104882C> A null R S 50 50 missense 0.0 benign 0.14 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1477492120 19p13.3 19 1104886G> A null S N 51 51 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,gnomAD rs368897080 19p13.3 19 1104892G> C null R P 53 53 missense 0.05 benign 0.26 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1322433496 19p13.3 19 1104895C> T null P L 54 54 missense 0.96 probably damaging 0.08 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1223691859 19p13.3 19 1104899G> C null E D 55 55 missense 0.0 benign 0.36 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs199515520 19p13.3 19 1104902C> G null I M 56 56 0.002396 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377091174 19p13.3 19 1104905C> A null H Q 57 57 7.99E-4 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs377091174 19p13.3 19 1104905C> G null H Q 57 57 7.99E-4 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1307387677 19p13.3 19 1104904A> G null H R 57 57 missense 0.005 benign 0.35 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1388361470 19p13.3 19 1104906G> C null E Q 58 58 missense 0.045 benign 0.37 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1324452027 19p13.3 19 1104910G> A null C Y 59 59 missense 0.037 benign 0.1 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1330676457 19p13.3 19 1104917G> C null K N 61 61 missense 0.037 benign 0.17 tolerated - low confidence 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1232397214 19p13.3 19 1104923G> T null Q H 63 63 missense 0.001 benign 0.05 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1358836718 19p13.3 19 1104927C> A null P T 65 65 missense 0.058 benign 0.15 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs751723961 19p13.3 19 1105186T> G null C G 66 66 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1188210171 19p13.3 19 1105190C> T null A V 67 67 missense 0.95 probably damaging 0.07 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs755235087 19p13.3 19 1105195C> G null R G 69 69 missense 0.766 possibly damaging 0.1 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,NCI-TCGA,gnomAD rs369712159 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23917401,cosmic_study:329,cosmic_study:552 19p13.3 19 1105196G> A null R Q 69 69 missense 0.047 benign 0.24 tolerated 1 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs755235087 19p13.3 19 1105195C> T null R W 69 69 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs778370256 19p13.3 19 1105203C> G null D E 71 71 missense 0.572 possibly damaging 0.04 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1456925736 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1105201G> A null D N 71 71 missense 0.865 possibly damaging 0.16 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs749766545 19p13.3 19 1105207C> T null R C 73 73 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs749766545 19p13.3 19 1105207C> G null R G 73 73 missense 0.5 possibly damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1397093830 19p13.3 19 1105208G> A null R H 73 73 missense 0.019 benign 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs771535901 19p13.3 19 1105210T> C null C R 74 74 missense 0.895 possibly damaging 0.16 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs952819943 19p13.3 19 1105211G> A null C Y 74 74 missense 0.946 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,NCI-TCGA,TOPMed,gnomAD rs779416718 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.3 19 1105214C> T null A V 75 75 missense 0.771 possibly damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1269167161 19p13.3 19 1105216C> G null R G 76 76 missense 0.559 possibly damaging 0.04 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1329352272 19p13.3 19 1105217G> A null R H 76 76 missense 0.013 benign 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1440687929 19p13.3 19 1105220C> G null S C 77 77 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1258398183 19p13.3 19 1105223T> C null M T 78 78 missense 0.579 possibly damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase Ensembl rs945662789 19p13.3 19 1105222A> G null M V 78 78 missense 0.071 benign 0.4 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs746579938 19p13.3 19 1105225C> G null H D 79 79 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs746579938 19p13.3 19 1105225C> A null H N 79 79 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs768267697 19p13.3 19 1105227C> G null H Q 79 79 missense 0.993 probably damaging 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1045408258 19p13.3 19 1105226A> G null H R 79 79 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase Ensembl rs1568532946 19p13.3 19 1105228G> T null E * 80 80 stop gained 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,TOPMed rs566974741 19p13.3 19 1105237G> A null A T 83 83 2.0E-4 missense 0.202 benign 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1412463647 19p13.3 19 1105240A> G null K E 84 84 missense 0.044 benign 0.04 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1157253019 19p13.3 19 1105251C> G null D E 87 87 missense 0.995 probably damaging 0.06 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,NCI-TCGA,gnomAD rs747887804 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1105249G> A null D N 87 87 missense 0.999 probably damaging 0.07 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs769589678 19p13.3 19 1105253G> A null G E 88 88 missense 0.92 probably damaging 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1274113661 19p13.3 19 1105252G> A null G R 88 88 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs773134735 cosmic curated [Cosmic]: lung cosmic_study:583 19p13.3 19 1105256A> C null H P 89 89 missense 0.465 possibly damaging 0.03 deleterious 1 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1412238452 19p13.3 19 1105257C> G null H Q 89 89 missense 0.009 benign 0.21 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1222825320 19p13.3 19 1105260G> C null M I 90 90 missense 0.036 benign 0.05 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs762792092 19p13.3 19 1105258A> T null M L 90 90 missense 0.041 benign 0.11 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs762792092 19p13.3 19 1105258A> C null M L 90 90 missense 0.041 benign 0.11 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs200859501 19p13.3 19 1105259T> C null M T 90 90 missense 0.018 benign 0.32 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs762792092 19p13.3 19 1105258A> G null M V 90 90 missense 0.003 benign 0.14 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,gnomAD rs376929853 19p13.3 19 1105270G> A null D N 94 94 missense 0.923 probably damaging 0.1 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs752983685 19p13.3 19 1105276T> C null Y H 96 96 missense 0.324 benign 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs756485267 19p13.3 19 1105279C> G null R G 97 97 missense 0.029 benign 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs756485267 19p13.3 19 1105279C> T null R W 97 97 missense 0.963 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs770775625 19p13.3 19 1105367G> A null G S 98 98 missense 0.083 benign 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs745799475 19p13.3 19 1105373G> C null V L 100 100 missense 0.074 benign 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1212758472 19p13.3 19 1105379A> C null I L 102 102 missense 0.029 benign 0.96 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs772198561 19p13.3 19 1105385A> C null T P 104 104 missense 0.963 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201903291 19p13.3 19 1105386C> G null T S 104 104 2.0E-4 missense 0.575 possibly damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs778371843 19p13.3 19 1105388A> G null N D 105 105 missense 0.484 possibly damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs760877738 19p13.3 19 1105389A> G null N S 105 105 missense 0.025 benign 0.04 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs768722652 19p13.3 19 1105395C> T null A V 107 107 missense 0.88 possibly damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1257403287 19p13.3 19 1105407G> C null G A 110 110 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs776936631 19p13.3 19 1105406G> A null G S 110 110 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1257403287 19p13.3 19 1105407G> T null G V 110 110 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ExAC,TOPMed,gnomAD rs200071465 19p13.3 19 1105411G> C null K N 111 111 2.0E-4 missense 0.999 probably damaging 0.31 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ExAC,gnomAD rs556598510 19p13.3 19 1105412A> G null T A 112 112 2.0E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs766916114 19p13.3 19 1105415G> A null E K 113 113 missense 0.147 benign 0.17 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs766916114 19p13.3 19 1105415G> C null E Q 113 113 missense 0.015 benign 0.23 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1325380954 19p13.3 19 1105418G> A null V I 114 114 missense 0.29 benign 0.16 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs913439103 19p13.3 19 1105424T> G null Y D 116 116 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs913439103 19p13.3 19 1105424T> C null Y H 116 116 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs777236046 19p13.3 19 1105436G> T null V F 120 120 missense 1.0 probably damaging 0.04 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs756929751 19p13.3 19 1105441C> A null D E 121 121 missense 0.975 probably damaging 0.76 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,gnomAD rs376007177 19p13.3 19 1105439G> A null D N 121 121 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs745707351 19p13.3 19 1105443T> C null L P 122 122 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs778842247 19p13.3 19 1105442C> G null L V 122 122 missense 0.707 possibly damaging 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC rs780173011 19p13.3 19 1105445C> T null H Y 123 123 missense 0.969 probably damaging 1.0 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs11555179 19p13.3 19 1105449C> T null A V 124 124 missense 0.912 probably damaging 0.16 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,TOPMed,gnomAD rs370419921 19p13.3 19 1105451C> T null R * 125 125 stop gained 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,TOPMed,gnomAD rs370419921 19p13.3 19 1105451C> G null R G 125 125 missense 0.949 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs981510076 19p13.3 19 1105452G> T null R L 125 125 missense 0.892 possibly damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs981510076 19p13.3 19 1105452G> A null R Q 125 125 missense 0.15 benign 0.12 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,dbSNP,gnomAD rs769967246 [ClinVar]: Spondylometaphyseal dysplasia, Sedaghatian type pubmed:22529034,pubmed:24706940 19p13.3 19 1105456C> A null Y * 126 126 stop gained 0 Spondylometaphyseal dysplasia, Sedaghatian type MIM:250220 ClinVar:RCV000128833 A0A087WT12 GPX4 Glutathione peroxidase ExAC rs762088801 19p13.3 19 1105455A> T null Y F 126 126 missense 0.031 benign 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs536607574 19p13.3 19 1105457G> C null A P 127 127 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs536607574 19p13.3 19 1105457G> A null A T 127 127 missense 0.945 probably damaging 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase Ensembl rs937006628 19p13.3 19 1105458C> T null A V 127 127 missense 0.962 probably damaging 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs760039914 19p13.3 19 1105462G> C null E D 128 128 missense 0.977 probably damaging 0.43 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ExAC rs201951088 19p13.3 19 1105460G> C null E Q 128 128 2.0E-4 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1162745897 19p13.3 19 1105461A> T null E V 128 128 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1310801506 19p13.3 19 1105463T> G null C G 129 129 missense 0.01 benign 0.38 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase Ensembl rs1286121934 19p13.3 19 1105469T> A null L M 131 131 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374349562 19p13.3 19 1105473G> A null R Q 132 132 3.99E-4 missense 0.079 benign 0.06 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1352136071 19p13.3 19 1105472C> T null R W 132 132 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367564504 19p13.3 19 1105488C> G null P R 137 137 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1279441980 19p13.3 19 1105487C> T null P S 137 137 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC rs781318061 19p13.3 19 1105493A> G null N D 139 139 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1483615598 19p13.3 19 1105496C> T null Q * 140 140 stop gained 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1182068647 19p13.3 19 1105498G> C null Q H 140 140 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs988469374 19p13.3 19 1105497A> C null Q P 140 140 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1283926030 19p13.3 19 1105505A> G null K E 143 143 missense 0.192 benign 0.24 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs762678264 19p13.3 19 1105658G> T null E * 145 145 stop gained 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs766180510 19p13.3 19 1105659A> G null E G 145 145 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase Ensembl rs1568534518 19p13.3 19 1105662C> G null P R 146 146 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1460089744 19p13.3 19 1105665G> A null G E 147 147 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs751333238 19p13.3 19 1105664G> A null G R 147 147 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1322588605 19p13.3 19 1105667A> G null S G 148 148 missense 0.261 benign 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs376068124 19p13.3 19 1105668G> A null S N 148 148 missense 0.007 benign 0.12 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ExAC,TOPMed,gnomAD rs200291407 19p13.3 19 1105669T> A null S R 148 148 7.99E-4 missense 0.85 possibly damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1021573468 19p13.3 19 1105670A> G null N D 149 149 missense 0.994 probably damaging 0.06 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1021573468 19p13.3 19 1105670A> C null N H 149 149 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1342629270 19p13.3 19 1105672C> G null N K 149 149 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199787199 19p13.3 19 1105673G> T null E * 150 150 2.0E-4 stop gained 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199787199 19p13.3 19 1105673G> A null E K 150 150 2.0E-4 missense 0.206 benign 0.2 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199787199 19p13.3 19 1105673G> C null E Q 150 150 2.0E-4 missense 0.04 benign 0.28 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs777819499 19p13.3 19 1105679A> G null I V 152 152 missense 0.063 benign 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,TOPMed rs368026073 19p13.3 19 1105683A> T null K I 153 153 missense 0.934 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs757440433 19p13.3 19 1105690C> A null F L 155 155 missense 0.89 possibly damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs927015405 19p13.3 19 1105688T> C null F L 155 155 missense 0.89 possibly damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs757440433 19p13.3 19 1105690C> G null F L 155 155 missense 0.89 possibly damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs76201145 [UniProt]: a patient affected by cryptorchidism pubmed:12606444 19p13.3 19 1105691G> A null A T 156 156 2.0E-4 missense 0.289 benign 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ExAC,TOPMed,gnomAD rs531824867 19p13.3 19 1105692C> T null A V 156 156 2.0E-4 missense 0.783 possibly damaging 0.31 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs769340944 19p13.3 19 1105694G> A null A T 157 157 missense 0.287 benign 0.3 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs772822658 19p13.3 19 1105695C> T null A V 157 157 missense 0.247 benign 0.07 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,TOPMed,gnomAD rs376092764 19p13.3 19 1105697G> T null G C 158 158 missense 0.935 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,TOPMed,gnomAD rs376092764 19p13.3 19 1105697G> A null G S 158 158 missense 0.111 benign 0.27 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs928891922 19p13.3 19 1105706G> A null V I 161 161 missense 0.865 possibly damaging 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ExAC,TOPMed,gnomAD rs201490206 19p13.3 19 1105716A> G null D G 164 164 2.0E-4 missense 0.794 possibly damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1404910680 19p13.3 19 1105715G> A null D N 164 164 missense 0.862 possibly damaging 0.04 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ExAC,TOPMed,gnomAD rs201490206 19p13.3 19 1105716A> T null D V 164 164 2.0E-4 missense 0.086 benign 0.04 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1404910680 19p13.3 19 1105715G> T null D Y 164 164 missense 0.13 benign 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs779141388 19p13.3 19 1105718A> T null M L 165 165 missense 0.005 benign 0.37 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1329292393 19p13.3 19 1105719T> C null M T 165 165 missense 0.442 benign 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs779141388 19p13.3 19 1105718A> G null M V 165 165 missense 0.009 benign 0.2 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs73507255 19p13.3 19 1105724A> G null S G 167 167 0.02875 missense 0.997 probably damaging 0.09 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs919663404 19p13.3 19 1105729G> C null K N 168 168 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs780265532 19p13.3 19 1105731T> C null I T 169 169 missense 0.902 possibly damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs769250904 19p13.3 19 1105735C> A null C * 170 170 stop gained 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs770360197 19p13.3 19 1105743G> A null G E 173 173 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs748758139 19p13.3 19 1105742G> A null G R 173 173 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,TOPMed,gnomAD rs375523715 19p13.3 19 1105747C> G null D E 174 174 missense 0.127 benign 0.19 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs759105125 19p13.3 19 1105746A> G null D G 174 174 missense 0.942 probably damaging 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1418733799 19p13.3 19 1105745G> T null D Y 174 174 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs763975118 19p13.3 19 1105749A> C null D A 175 175 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs763975118 19p13.3 19 1105749A> G null D G 175 175 missense 0.999 probably damaging 0.08 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ExAC,TOPMed,gnomAD rs536194289 19p13.3 19 1105748G> A null D N 175 175 2.0E-4 missense 0.999 probably damaging 0.79 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC rs750572438 19p13.3 19 1105754C> T null H Y 177 177 missense 0.998 probably damaging 0.06 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1373540032 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1105758C> T null P L 178 178 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1373540032 19p13.3 19 1105758C> G null P R 178 178 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1299108429 19p13.3 19 1105757C> A null P T 178 178 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1219503815 19p13.3 19 1105764G> T null W L 180 180 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs886976118 19p13.3 19 1105777G> C null K N 184 184 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs766661274 19p13.3 19 1105780C> G null I M 185 185 missense 0.683 possibly damaging 0.08 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1279602370 19p13.3 19 1105785C> G null P R 187 187 missense 1.0 probably damaging 0.06 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs755415132 19p13.3 19 1105789G> C null K N 188 188 missense 0.095 benign 0.09 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs751928727 19p13.3 19 1105788A> G null K R 188 188 missense 0.045 benign 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs781740869 19p13.3 19 1105791G> T null G V 189 189 missense 0.989 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs748668129 19p13.3 19 1105795G> C null K N 190 190 missense 0.613 possibly damaging 0.18 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1304599696 19p13.3 19 1105794A> G null K R 190 190 missense 0.005 benign 0.91 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1254942037 19p13.3 19 1105797G> A null G D 191 191 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ExAC,TOPMed,gnomAD rs554036902 19p13.3 19 1105799A> C null I L 192 192 3.99E-4 missense 0.001 benign 0.72 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs748675850 19p13.3 19 1105801C> G null I M 192 192 missense 0.007 benign 0.42 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs779529317 19p13.3 19 1106244C> A null A D 196 196 missense 0.623 possibly damaging 0.24 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs904315616 19p13.3 19 1106243G> A null A T 196 196 missense 0.057 benign 0.18 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,gnomAD rs368588689 19p13.3 19 1106248C> G null I M 197 197 missense 0.948 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs751121983 19p13.3 19 1106246A> G null I V 197 197 missense 0.035 benign 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs780851132 19p13.3 19 1106249A> G null K E 198 198 missense 0.489 possibly damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase Ensembl rs893163820 19p13.3 19 1106254G> C null W C 199 199 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1489674381 19p13.3 19 1106257C> G null N K 200 200 missense 0.897 possibly damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs937189170 19p13.3 19 1106258T> G null F V 201 201 missense 0.078 benign 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs926712335 19p13.3 19 1106402C> G null F L 204 204 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs778927970 19p13.3 19 1106403C> A null L I 205 205 missense 0.999 probably damaging 0.12 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs745797291 19p13.3 19 1106408C> G null I M 206 206 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase Ensembl rs533822834 19p13.3 19 1106406A> G null I V 206 206 missense 0.035 benign 1.0 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1192146377 19p13.3 19 1106411C> G null D E 207 207 missense 0.843 possibly damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs768879858 19p13.3 19 1106410A> G null D G 207 207 missense 0.281 benign 0.04 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,TOPMed,gnomAD rs369851110 19p13.3 19 1106409G> C null D H 207 207 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,TOPMed,gnomAD rs369851110 19p13.3 19 1106409G> A null D N 207 207 missense 0.966 probably damaging 0.2 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs748450322 19p13.3 19 1106414G> C null K N 208 208 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC rs776857747 19p13.3 19 1106413A> C null K T 208 208 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1201205174 19p13.3 19 1106415A> C null N H 209 209 missense 0.964 probably damaging 0.01 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ExAC,TOPMed,gnomAD rs531600656 19p13.3 19 1106417C> A null N K 209 209 2.0E-4 missense 0.923 probably damaging 0.1 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs746824565 19p13.3 19 1106418G> T null G C 210 210 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs949937415 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1106419G> A null G D 210 210 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs746824565 19p13.3 19 1106418G> A null G S 210 210 missense 0.902 possibly damaging 0.02 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs768439030 19p13.3 19 1106422G> T null C F 211 211 missense 0.956 probably damaging 0.13 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs768439030 19p13.3 19 1106422G> C null C S 211 211 missense 0.632 possibly damaging 0.75 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201575676 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1106424G> A null V M 212 212 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1382186292 19p13.3 19 1106432G> C null K N 214 214 missense 0.999 probably damaging 0.07 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs1322130895 19p13.3 19 1106431A> G null K R 214 214 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs760126037 19p13.3 19 1106433C> T null R C 215 215 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,NCI-TCGA,TOPMed,gnomAD rs763745871 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1106434G> A null R H 215 215 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs753545286 19p13.3 19 1106438C> G null Y * 216 216 missense 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1416229761 19p13.3 19 1106437A> G null Y C 216 216 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1241917342 19p13.3 19 1106440G> C null G A 217 217 missense 0.999 probably damaging 0.57 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201633492 19p13.3 19 1106439G> A null G R 217 217 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs750297144 19p13.3 19 1106442C> T null P S 218 218 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1260741240 19p13.3 19 1106447G> A null M I 219 219 missense 0.965 probably damaging 0.04 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,TOPMed,gnomAD rs369730592 19p13.3 19 1106446T> C null M T 219 219 missense 0.99 probably damaging 1.0 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1016673119 19p13.3 19 1106445A> G null M V 219 219 missense 0.965 probably damaging 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs779891202 19p13.3 19 1106448G> T null E * 220 220 missense 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,TOPMed,gnomAD rs747058722 19p13.3 19 1106450G> T null E D 220 220 missense 0.977 probably damaging 0.32 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs779891202 19p13.3 19 1106448G> C null E Q 220 220 missense 0.998 probably damaging 0.11 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1422303673 19p13.3 19 1106454C> A null P T 222 222 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1206884354 19p13.3 19 1106543A> T null I L 225 225 missense 0.11 benign 0.15 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1322931515 19p13.3 19 1106544T> C null I T 225 225 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed rs899570354 19p13.3 19 1106546G> C null E Q 226 226 missense 0.521 possibly damaging 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs754002873 19p13.3 19 1106549A> G null K E 227 227 missense 0.334 benign 0.06 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs757559152 19p13.3 19 1106552G> A null D N 228 228 missense 0.301 benign 0.07 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase gnomAD rs1191177439 19p13.3 19 1106556T> C null L P 229 229 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs758936260 19p13.3 19 1106559C> T null P L 230 230 missense 0.899 possibly damaging 0.09 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375048133 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.3 19 1106558C> T null P S 230 230 missense 0.682 possibly damaging 0.03 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase TOPMed,gnomAD rs1400506915 19p13.3 19 1106562A> G null H R 231 231 missense 0.203 benign 0.44 tolerated 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs780732940 19p13.3 19 1106564T> C null Y H 232 232 missense 0.095 benign 0.0 deleterious 0 A0A087WT12 GPX4 Glutathione peroxidase ExAC,gnomAD rs747601013 19p13.3 19 1106572G> C null * Y 234 234 missense 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase TOPMed rs1273593358 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 Xq23 X 111685036A> C null N H 2 2 missense 0.02 benign 0.04 deleterious 1 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase 1000Genomes,ExAC,gnomAD rs748812688 Xq23 X 111685041T> A null N K 3 3 2.65E-4 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase Ensembl,dbSNP rs398122394 [UniProt]: de novo mutation detected in unrelated patients pubmed:23033978,pubmed:23934111,pubmed:26138355,pubmed:27476654 Xq23 X 111685040A> G null N S 3 3 missense 0.858 possibly damaging 0.05 tolerated 0 Epileptic encephalopathy, early infantile, 36 (EIEE36) A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. Some EIEE36 patients may present with an abnormal isoelectric focusing of serum transferrin, consistent with a diagnostic classification of congenital disorder of glycosylation type I. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. MIM:300884 pubmed:22492991,pubmed:23033978,pubmed:23934111,pubmed:26138355,pubmed:27476654 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase Ensembl,dbSNP rs1057521748 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. Xq23 X 111685057G> A null A T 9 9 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,TOPMed,gnomAD rs754497897 Xq23 X 111685070A> T null H L 13 13 missense 0.098 benign 0.03 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase Ensembl,dbSNP rs887878543 Xq23 X 111685075G> C null E Q 15 15 missense 0.013 benign 0.05 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,gnomAD rs778521226 Xq23 X 111685078G> A null G S 16 16 missense 0.721 possibly damaging 0.15 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,gnomAD rs778296473 Xq23 X 111685082A> G null H R 17 17 missense 0.776 possibly damaging 0.03 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,NCI-TCGA,TOPMed,gnomAD rs771783840 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 Xq23 X 111685081C> T null H Y 17 17 missense 0.007 benign 0.11 tolerated 1 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145518377 Xq23 X 111685091A> G null Y C 20 20 2.65E-4 missense 0.017 benign 0.11 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase Ensembl,dbSNP rs1556449735 [ClinVar]: Epileptic encephalopathy, early infantile, 36 Xq23 X 111685093T> G null C G 21 21 missense 0.662 possibly damaging 0.0 deleterious 0 Epileptic encephalopathy, early infantile, 36 (EIEE36) MIM:300884 ClinVar:RCV000550980 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase gnomAD rs1242810660 Xq23 X 111685097C> A null T N 22 22 missense 0.085 benign 0.23 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase gnomAD rs1167013400 Xq23 X 111685103G> C null S T 24 24 missense 0.06 benign 0.01 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,TOPMed,gnomAD rs777637325 Xq23 X 111687889C> T null T M 25 25 missense 0.084 benign 0.07 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,TOPMed,gnomAD rs746639246 Xq23 X 111687898G> A null G E 28 28 missense 0.0 benign 1.0 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase TOPMed rs1285323021 Xq23 X 111687897G> C null G R 28 28 missense 0.009 benign 0.23 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,gnomAD rs771247315 Xq23 X 111687906C> G null Q E 31 31 missense 0.006 benign 0.15 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase gnomAD rs1352877688 Xq23 X 111687910C> T null S L 32 32 missense 0.085 benign 0.01 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,gnomAD rs781571236 Xq23 X 111687913T> C null M T 33 33 missense 0.005 benign 0.0 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase gnomAD rs1425602202 Xq23 X 111687912A> G null M V 33 33 missense 0.005 benign 0.16 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase TOPMed rs1324224567 Xq23 X 111687915G> A null D N 34 34 missense 0.044 benign 0.11 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase TOPMed rs1322122712 Xq23 X 111687921T> C null S P 36 36 missense 0.805 possibly damaging 0.01 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase Ensembl,dbSNP rs397518473 pubmed:23686279 Xq23 X 111687924_111687925delinsT T null T L 37 37 missense 0.005 benign 0.13 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,TOPMed,gnomAD rs770214701 Xq23 X 111687930A> C null K Q 39 39 missense 0.054 benign 0.05 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase Ensembl rs866780677 Xq23 X 111687940C> A null P H 42 42 missense 0.937 probably damaging 0.02 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,gnomAD rs775557363 Xq23 X 111687939C> T null P S 42 42 missense 0.133 benign 0.14 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ESP,ExAC,gnomAD rs373095859 Xq23 X 111687942C> T null P S 43 43 missense 0.21 benign 0.09 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase gnomAD rs1206030503 Xq23 X 111687951C> G null P A 46 46 missense 0.143 benign 0.01 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,gnomAD rs774606792 Xq23 X 111687957A> G null K E 48 48 missense 0.028 benign 0.11 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,gnomAD rs774606792 Xq23 X 111687957A> C null K Q 48 48 missense 0.028 benign 0.05 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase ExAC,gnomAD rs762050093 Xq23 X 111687960T> C null F L 49 49 missense 0.664 possibly damaging 0.06 tolerated 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase TOPMed rs1323583970 Xq23 X 111687985T> G null V G 57 57 missense 0.735 possibly damaging 0.0 deleterious 0 A0A087WT15 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase gnomAD rs1197143679 Xq23 X 111687993C> T null Q * 60 60 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs770780995 21q22.3 21 44425701T> C null L P 2 2 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ExAC,gnomAD rs573588708 21q22.3 21 44425704G> A null S N 3 3 2.0E-4 missense 0.159 benign 0.17 tolerated - low confidence 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs759238887 21q22.3 21 44425707G> A null R Q 4 4 missense 0.089 benign 0.05 deleterious - low confidence 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs910458356 21q22.3 21 44425706C> T null R W 4 4 missense 0.799 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs765132667 21q22.3 21 44425713C> T null Q * 6 6 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1414097485 21q22.3 21 44425716G> A null E K 7 7 missense 0.022 benign 0.27 tolerated - low confidence 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1414097485 21q22.3 21 44425716G> C null E Q 7 7 missense 0.066 benign 0.27 tolerated - low confidence 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs763301534 21q22.3 21 44425725G> A null G R 10 10 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs764223576 21q22.3 21 44425731G> A null A T 12 12 missense 0.0 unknown 0.74 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1012083788 21q22.3 21 44425734G> C null G R 13 13 missense 0.519 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1012083788 21q22.3 21 44425734G> A null G R 13 13 missense 0.519 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs150750801 21q22.3 21 44425737C> T null R * 14 14 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs781533545 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:24145436,cosmic_study:549 21q22.3 21 44425738G> A null R Q 14 14 missense 0.031 benign 0.19 tolerated 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1441786508 21q22.3 21 44425740C> T null Q * 15 15 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs750984559 21q22.3 21 44425744T> C null Y H 16 16 missense 0.009 benign 0.42 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs143426189 21q22.3 21 44425750G> T null V L 18 18 missense 0.998 probably damaging 0.05 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs143426189 21q22.3 21 44425750G> A null V M 18 18 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs771724780 21q22.3 21 44425757C> T null A V 20 20 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201821709 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44425760G> A null R Q 21 21 2.0E-4 missense 0.742 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs777199068 cosmic curated [Cosmic]: pancreas cosmic_study:328 21q22.3 21 44425759C> T null R W 21 21 missense 0.989 probably damaging 0.0 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1421844618 21q22.3 21 44425765C> T null L F 23 23 missense 0.091 benign 0.35 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs201007554 21q22.3 21 44425768C> A null L I 24 24 missense 0.147 benign 0.12 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1327417593 21q22.3 21 44425772A> G null Y C 25 25 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1355436567 21q22.3 21 44425774C> T null P S 26 26 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45513700 21q22.3 21 44425778A> G null N S 27 27 0.002196 missense 0.001 benign 1.0 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs759562994 21q22.3 21 44425780T> A null C S 28 28 missense 0.0 benign 1.0 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1231821967 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44425784C> A null P H 29 29 missense 0.007 benign 0.34 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs769440385 21q22.3 21 44425783C> T null P S 29 29 missense 0.007 benign 0.81 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs775450744 21q22.3 21 44425790C> T null T M 31 31 missense 0.014 benign 0.17 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs763213781 21q22.3 21 44425792C> T null R C 32 32 missense 0.897 possibly damaging 0.03 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1257165071 21q22.3 21 44425793G> A null R H 32 32 missense 0.855 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1257165071 21q22.3 21 44425793G> T null R L 32 32 missense 0.327 benign 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs764403590 21q22.3 21 44425797C> G null F L 33 33 missense 0.385 benign 0.06 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs954732932 21q22.3 21 44425802T> C null V A 35 35 missense 0.039 benign 0.02 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs761772781 21q22.3 21 44425801G> C null V L 35 35 missense 0.503 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs761772781 21q22.3 21 44425801G> T null V L 35 35 missense 0.503 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs761772781 21q22.3 21 44425801G> A null V M 35 35 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1244088281 21q22.3 21 44425808A> G null N S 37 37 missense 0.015 benign 0.04 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs750854740 21q22.3 21 44425810G> C null E Q 38 38 missense 0.834 possibly damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs756666439 21q22.3 21 44425813A> C null K Q 39 39 missense 0.643 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1008008363 21q22.3 21 44425814A> G null K R 39 39 missense 0.039 benign 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs150071509 21q22.3 21 44425816G> T null V L 40 40 missense 0.266 benign 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,dbSNP,gnomAD rs150071509 21q22.3 21 44425816G> A null V M 40 40 missense 0.911 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs1569106318 21q22.3 21 44425825G> C null E Q 43 43 missense 0.424 benign 0.09 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs984015661 21q22.3 21 44426660A> G null T A 44 44 missense 0.006 benign 0.22 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144380426 21q22.3 21 44426661C> T null T M 44 44 0.001797 missense 0.08 benign 0.15 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144380426 21q22.3 21 44426661C> G null T R 44 44 0.001797 missense 0.031 benign 0.03 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1284188662 21q22.3 21 44426664A> G null E G 45 45 missense 0.73 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1212112350 21q22.3 21 44426674C> G null I M 48 48 missense 0.243 benign 0.2 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1255872917 21q22.3 21 44426676A> G null Y C 49 49 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1345655439 21q22.3 21 44426679A> G null D G 50 50 missense 0.536 possibly damaging 0.03 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs774309408 21q22.3 21 44426682C> T null P L 51 51 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs974932050 21q22.3 21 44426685C> T null P L 52 52 missense 0.192 benign 0.17 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs773372135 21q22.3 21 44426692C> A null Y * 54 54 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs76284765 21q22.3 21 44426693A> G null T A 55 55 0.003195 missense 0.467 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs113563173 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22722839,cosmic_study:391 21q22.3 21 44426694C> T null T M 55 55 9.98E-4 missense 0.963 probably damaging 0.0 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs372673439 21q22.3 21 44426707G> C null K N 59 59 missense 0.866 possibly damaging 0.06 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs902253736 21q22.3 21 44426708G> A null D N 60 60 missense 0.891 possibly damaging 0.06 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1401219164 21q22.3 21 44426709A> T null D V 60 60 missense 0.925 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1322095125 21q22.3 21 44426711G> A null A T 61 61 missense 0.011 benign 0.7 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200421587 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44426712C> T null A V 61 61 2.0E-4 missense 0.007 benign 0.54 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1339685492 21q22.3 21 44426715C> T null A V 62 62 missense 0.242 benign 0.2 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs750087907 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44426717G> T null A S 63 63 missense 0.065 benign 0.62 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs750087907 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:435 21q22.3 21 44426717G> A null A T 63 63 missense 0.001 benign 0.46 tolerated 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs755652048 21q22.3 21 44426722G> C null M I 64 64 missense 0.0 benign 0.21 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1350379380 21q22.3 21 44426721T> C null M T 64 64 missense 0.0 benign 0.33 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs779739081 21q22.3 21 44426725C> A null D E 65 65 missense 0.321 benign 0.03 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs1474908734 21q22.3 21 44426726C> G null P A 66 66 missense 0.952 probably damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1251907071 21q22.3 21 44426731G> T null M I 67 67 missense 0.0 benign 0.19 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs754977576 21q22.3 21 44426729A> G null M V 67 67 missense 0.0 benign 1.0 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1457671192 21q22.3 21 44426735G> A null E K 69 69 missense 0.014 benign 0.87 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs766495447 21q22.3 21 44435136C> T null P L 71 71 missense 0.755 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1218949416 21q22.3 21 44435135C> T null P S 71 71 missense 0.755 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1218949416 21q22.3 21 44435135C> A null P T 71 71 missense 0.147 benign 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,TOPMed,gnomAD rs369033356 21q22.3 21 44435140G> A null M I 72 72 missense 0.015 benign 0.17 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1211760025 21q22.3 21 44435138A> G null M V 72 72 missense 0.009 benign 0.18 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs551942190 21q22.3 21 44435142G> C null G A 73 73 missense 0.937 probably damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1197006423 21q22.3 21 44435144C> T null R C 74 74 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs754137537 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:376,cosmic_study:452 21q22.3 21 44435145G> A null R H 74 74 missense 0.979 probably damaging 0.0 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1222458906 21q22.3 21 44435151G> A null G E 76 76 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs779165269 21q22.3 21 44435153C> A null L M 77 77 missense 0.341 benign 0.07 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs779165269 21q22.3 21 44435153C> G null L V 77 77 missense 0.062 benign 0.1 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs753208177 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44435156C> T null R C 78 78 missense 0.862 possibly damaging 0.07 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145602698 21q22.3 21 44435157G> A null R H 78 78 5.99E-4 missense 0.862 possibly damaging 0.16 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145602698 21q22.3 21 44435157G> T null R L 78 78 5.99E-4 missense 0.029 benign 0.23 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1195319341 21q22.3 21 44435159G> C null G R 79 79 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143528384 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung pubmed:22941188,cosmic_study:423 21q22.3 21 44435162C> T null R C 80 80 missense 0.897 possibly damaging 0.01 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs550041022 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375,cosmic_study:376 21q22.3 21 44435163G> A null R H 80 80 2.0E-4 missense 0.855 possibly damaging 0.0 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs768102132 21q22.3 21 44435165G> A null G R 81 81 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs768102132 21q22.3 21 44435165G> T null G W 81 81 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143573585 21q22.3 21 44435171C> G null L V 83 83 2.0E-4 missense 0.341 benign 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1284913098 21q22.3 21 44435174A> T null S C 84 84 missense 0.003 benign 0.22 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1284913098 21q22.3 21 44435174A> G null S G 84 84 missense 0.001 benign 1.0 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs771990789 21q22.3 21 44435175G> A null S N 84 84 missense 0.114 benign 0.14 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs760364925 [NCI-TCGA]: Variant assessed as Somatic; impact. 21q22.3 21 44435183G> A null G R 87 87 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1488727741 21q22.3 21 44435191C> A null N K 89 89 missense 0.787 possibly damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1488727741 21q22.3 21 44435191C> G null N K 89 89 missense 0.787 possibly damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1216396139 21q22.3 21 44435192C> T null H Y 90 90 missense 0.835 possibly damaging 0.04 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45589233 21q22.3 21 44435196C> T null T M 91 91 7.99E-4 missense 0.116 benign 0.1 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs45589233 21q22.3 21 44435196C> G null T R 91 91 7.99E-4 missense 0.726 possibly damaging 0.05 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs752830449 21q22.3 21 44435199T> C null L P 92 92 missense 0.961 probably damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs765351879 21q22.3 21 44435198C> G null L V 92 92 missense 0.062 benign 0.19 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs762618433 21q22.3 21 44435205C> G null P R 94 94 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1161072970 21q22.3 21 44435209G> T null M I 95 95 missense 0.0 benign 0.84 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs758620522 21q22.3 21 44435214C> A null T K 97 97 missense 0.677 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs758620522 21q22.3 21 44435214C> T null T M 97 97 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ExAC,TOPMed,gnomAD rs565804083 21q22.3 21 44435217G> T null R L 98 98 2.0E-4 missense 0.615 possibly damaging 0.04 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ExAC,TOPMed,gnomAD rs565804083 21q22.3 21 44435217G> A null R Q 98 98 2.0E-4 missense 0.873 possibly damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs138685995 [NCI-TCGA]: Variant assessed as Somatic; impact. 21q22.3 21 44435216C> T null R W 98 98 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs777365400 21q22.3 21 44437064G> A null W * 99 99 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1434512593 21q22.3 21 44437065G> C null W C 99 99 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs1004671240 21q22.3 21 44437063T> C null W R 99 99 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs200766099 21q22.3 21 44437070G> A null R Q 101 101 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs770604120 21q22.3 21 44437069C> T null R W 101 101 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141137247 21q22.3 21 44437074C> A null N K 102 102 2.0E-4 missense 0.887 possibly damaging 0.12 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45570639 21q22.3 21 44437075G> A null E K 103 103 0.006589 missense 0.001 benign 0.98 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs1569121195 21q22.3 21 44437082G> C null G A 105 105 missense 0.999 probably damaging 0.05 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes rs181804460 21q22.3 21 44437084G> A null A T 106 106 missense 0.154 benign 0.13 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs763303047 21q22.3 21 44437096A> G null K E 110 110 missense 0.814 possibly damaging 0.1 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs1569121233 21q22.3 21 44437102A> C null I L 112 112 missense 0.009 benign 0.82 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45613636 21q22.3 21 44437104A> G null I M 112 112 0.006789 missense 0.61 possibly damaging 0.19 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs75260896 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44437106A> G null K R 113 113 0.008187 missense 0.119 benign 0.08 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1435075851 21q22.3 21 44437113G> T null M I 115 115 missense 0.015 benign 0.55 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1259306674 21q22.3 21 44437126G> A null V M 120 120 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1317794911 21q22.3 21 44437129G> T null V L 121 121 missense 0.146 benign 0.11 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1317794911 21q22.3 21 44437129G> A null V M 121 121 missense 0.146 benign 0.05 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs761862684 21q22.3 21 44437132A> T null K * 122 122 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1282857233 21q22.3 21 44437135C> T null L F 123 123 missense 0.003 benign 0.57 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs866621293 21q22.3 21 44437139C> T null P L 124 124 missense 0.226 benign 0.11 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1489290905 21q22.3 21 44437142T> C null L P 125 125 missense 0.023 benign 0.21 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1479349948 21q22.3 21 44437147G> T null E * 127 127 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1479349948 21q22.3 21 44437147G> A null E K 127 127 missense 0.704 possibly damaging 0.15 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs957812565 21q22.3 21 44437150C> A null H N 128 128 missense 0.011 benign 0.22 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1451869894 21q22.3 21 44437154G> A null W * 129 129 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1424303743 21q22.3 21 44437159C> A null L M 131 131 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1168512407 21q22.3 21 44437166G> A null G E 133 133 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs756766799 21q22.3 21 44439068G> T null G V 134 134 missense 0.287 benign 0.07 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372282416 [NCI-TCGA]: Variant assessed as Somatic; impact. 21q22.3 21 44439073C> T null R W 136 136 missense 0.804 possibly damaging 0.02 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs750342145 21q22.3 21 44439076G> T null E * 137 137 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs750342145 21q22.3 21 44439076G> A null E K 137 137 missense 0.242 benign 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1376266759 21q22.3 21 44439079C> T null P S 138 138 missense 0.656 possibly damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs749094248 21q22.3 21 44439083G> A null G E 139 139 missense 0.22 benign 0.02 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs780201202 21q22.3 21 44439082G> A null G R 139 139 missense 0.9 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372629668 21q22.3 21 44439090G> A null M I 141 141 2.0E-4 missense 0.0 benign 0.33 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1360286445 21q22.3 21 44439091C> A null L I 142 142 missense 0.691 possibly damaging 0.26 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs375821511 21q22.3 21 44439098G> A null R Q 144 144 missense 0.011 benign 0.52 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1447933639 21q22.3 21 44439097C> T null R W 144 144 missense 0.736 possibly damaging 0.05 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs369979697 21q22.3 21 44439103C> G null L V 146 146 missense 0.453 possibly damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ExAC,TOPMed,gnomAD rs201046254 21q22.3 21 44439110G> A null R Q 148 148 2.0E-4 missense 0.003 benign 0.64 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs773284614 21q22.3 21 44439109C> T null R W 148 148 missense 0.007 benign 0.1 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs945436664 21q22.3 21 44439116T> A null L H 150 150 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs759912127 21q22.3 21 44439119G> A null R Q 151 151 missense 0.005 benign 0.44 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs146378847 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 21q22.3 21 44439118C> T null R W 151 151 missense 0.629 possibly damaging 0.01 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1261104245 21q22.3 21 44439121C> T null Q * 152 152 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs765566611 21q22.3 21 44439128A> G null H R 154 154 missense 0.098 benign 0.35 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1262865984 21q22.3 21 44439127C> T null H Y 154 154 missense 0.0 benign 1.0 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs200895364 21q22.3 21 44439131G> A null W * 155 155 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139685051 21q22.3 21 44439130T> C null W R 155 155 2.0E-4 missense 0.885 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144331323 21q22.3 21 44439134C> T null P L 156 156 2.0E-4 missense 0.116 benign 0.19 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1016571417 21q22.3 21 44439137C> G null S C 157 157 missense 0.517 possibly damaging 0.06 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1467110461 21q22.3 21 44439140T> C null F S 158 158 missense 0.711 possibly damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs931865586 21q22.3 21 44439157T> A null C S 164 164 missense 0.0 benign 0.13 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79434849 21q22.3 21 44439159C> G null C W 164 164 0.009784 missense 0.007 benign 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142254503 21q22.3 21 44439160G> T null G C 165 165 5.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs142254503 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 21q22.3 21 44439160G> A null G S 165 165 5.99E-4 missense 1.0 probably damaging 0.05 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41277558 21q22.3 21 44439165G> A null M I 166 166 9.98E-4 missense 0.0 benign 0.35 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1466753872 21q22.3 21 44439163A> G null M V 166 166 missense 0.0 benign 0.46 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs369715794 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 21q22.3 21 44440789G> C null V L 168 168 missense 0.243 benign 0.04 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs369715794 21q22.3 21 44440789G> A null V M 168 168 missense 0.882 possibly damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1392422524 21q22.3 21 44440793A> G null Y C 169 169 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs1569126454 21q22.3 21 44440798G> A null G S 171 171 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC rs757275674 21q22.3 21 44440802A> G null Y C 172 172 missense 0.139 benign 0.04 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs781159875 21q22.3 21 44440805T> C null M T 173 173 missense 0.033 benign 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs746316100 21q22.3 21 44440808A> T null D V 174 174 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs776134566 21q22.3 21 44440811A> C null D A 175 175 missense 0.191 benign 0.05 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1423599890 21q22.3 21 44440812C> A null D E 175 175 missense 0.78 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs776134566 21q22.3 21 44440811A> G null D G 175 175 missense 0.719 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs373263494 21q22.3 21 44440810G> C null D H 175 175 missense 0.971 probably damaging 0.02 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs199551344 21q22.3 21 44440814C> T null P L 176 176 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs140351977 21q22.3 21 44440823C> T null T M 179 179 missense 0.963 probably damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,dbSNP,gnomAD rs45578242 21q22.3 21 44440831G> T null A S 182 182 missense 0.783 possibly damaging 0.06 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs759143585 21q22.3 21 44440840G> T null E * 185 185 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs759143585 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 21q22.3 21 44440840G> A null E K 185 185 missense 0.587 possibly damaging 0.0 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,NCI-TCGA,gnomAD rs752718877 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23856246,cosmic_study:504 21q22.3 21 44440844C> T null T M 186 186 missense 0.904 possibly damaging 0.03 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs751737739 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 21q22.3 21 44440852G> A null V I 189 189 missense 0.014 benign 0.65 tolerated 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs757471246 21q22.3 21 44440855A> G null S G 190 190 missense 0.024 benign 0.15 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs757471246 21q22.3 21 44440855A> C null S R 190 190 missense 0.912 probably damaging 0.01 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147625236 21q22.3 21 44440858G> T null V F 191 191 2.0E-4 missense 0.269 benign 0.53 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147625236 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 21q22.3 21 44440858G> A null V I 191 191 2.0E-4 missense 0.0 benign 0.9 tolerated 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs756261262 21q22.3 21 44440866C> G null F L 193 193 missense 0.721 possibly damaging 0.12 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs970380010 21q22.3 21 44440864T> G null F V 193 193 missense 0.892 possibly damaging 0.02 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs780406387 21q22.3 21 44440867C> T null Q * 194 194 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs973381096 21q22.3 21 44440868A> G null Q R 194 194 missense 0.053 benign 0.24 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1381741000 21q22.3 21 44440873C> G null Q E 196 196 missense 0.121 benign 0.37 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1019668220 21q22.3 21 44440874A> C null Q P 196 196 missense 0.563 possibly damaging 0.04 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1019668220 21q22.3 21 44440874A> G null Q R 196 196 missense 0.006 benign 0.13 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs749837500 21q22.3 21 44440880A> T null D V 198 198 missense 0.864 possibly damaging 0.05 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142151549 21q22.3 21 44440883T> G null V G 199 199 0.001198 missense 0.587 possibly damaging 0.1 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs779425920 21q22.3 21 44440882G> A null V M 199 199 missense 0.051 benign 0.18 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs2876960 21q22.3 21 44440885G> A null E K 200 200 missense 0.306 benign 0.46 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs990080811 21q22.3 21 44440892A> C null N T 202 202 missense 0.001 benign 0.18 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs200896295 21q22.3 21 44440894A> T null R W 203 203 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs776411461 21q22.3 21 44440902C> A null N K 205 205 missense 0.453 possibly damaging 0.09 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1336552206 21q22.3 21 44440903T> C null S P 206 206 missense 0.885 possibly damaging 0.05 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1370738473 21q22.3 21 44441694C> A null N K 207 207 missense 0.229 benign 0.88 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ExAC,TOPMed,gnomAD rs569048007 21q22.3 21 44441701G> T null A S 210 210 2.0E-4 missense 0.02 benign 0.22 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs569048007 [NCI-TCGA]: Variant assessed as Somatic; impact. 21q22.3 21 44441701G> A null A T 210 210 2.0E-4 missense 0.011 benign 0.16 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs370554911 21q22.3 21 44441706C> A null C * 211 211 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs767370551 21q22.3 21 44441704T> A null C S 211 211 missense 0.007 benign 0.42 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145895219 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44441707G> A null D N 212 212 missense 0.061 benign 0.05 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1249583387 21q22.3 21 44441710T> G null S A 213 213 missense 0.006 benign 0.45 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374055331 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44441711C> T null S L 213 213 missense 0.0 benign 0.22 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1275296317 21q22.3 21 44441714G> C null G A 214 214 missense 0.225 benign 1.0 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ExAC,TOPMed,gnomAD rs200160241 21q22.3 21 44441716G> A null A T 215 215 2.0E-4 missense 0.083 benign 0.54 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 Ensembl rs910429788 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44441719T> C null S P 216 216 missense 0.663 possibly damaging 0.09 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs138426423 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 21q22.3 21 44441725C> T null R * 218 218 5.99E-4 stop gained 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1035272373 21q22.3 21 44441726G> A null R Q 218 218 missense 0.102 benign 0.18 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC rs778228758 21q22.3 21 44441734G> A null V M 221 221 missense 0.987 probably damaging 0.05 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs745443032 21q22.3 21 44441743A> T null R W 224 224 missense 0.895 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149248182 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44441746C> T null R C 225 225 missense 0.028 benign 0.21 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs779734671 [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44441747G> A null R H 225 225 missense 0.916 probably damaging 0.08 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs779734671 21q22.3 21 44441747G> T null R L 225 225 missense 0.59 possibly damaging 0.1 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs897992661 21q22.3 21 44441755C> A null L I 228 228 missense 0.814 possibly damaging 0.04 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs769129299 21q22.3 21 44441759A> G null Y C 229 229 missense 0.977 probably damaging 0.06 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1428021654 21q22.3 21 44441758T> C null Y H 229 229 missense 0.221 benign 0.11 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs774226976 21q22.3 21 44441761G> T null A S 230 230 missense 0.027 benign 0.03 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143422459 21q22.3 21 44441762C> T null A V 230 230 2.0E-4 missense 0.01 benign 0.08 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,TOPMed,gnomAD rs760446503 21q22.3 21 44441773A> G null T A 234 234 missense 0.006 benign 0.73 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs766620549 21q22.3 21 44441776C> T null L F 235 235 missense 0.643 possibly damaging 0.43 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs766620549 21q22.3 21 44441776C> G null L V 235 235 missense 0.116 benign 0.05 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs759666751 21q22.3 21 44441791G> C null A P 240 240 missense 0.679 possibly damaging 0.0 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs759666751 21q22.3 21 44441791G> A null A T 240 240 missense 0.185 benign 0.04 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs1409584440 21q22.3 21 44441792C> T null A V 240 240 missense 0.007 benign 0.22 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 gnomAD rs1292816882 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 21q22.3 21 44441794G> A null A T 241 241 missense 0.011 benign 0.56 tolerated 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs753214494 21q22.3 21 44441795C> T null A V 241 241 missense 0.018 benign 0.12 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed,gnomAD rs1290493135 21q22.3 21 44441804G> C null G A 244 244 missense 0.719 possibly damaging 0.04 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs966021909 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 21q22.3 21 44441803G> A null G R 244 244 missense 0.929 probably damaging 0.02 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 TOPMed rs966021909 cosmic curated [Cosmic]: lung cosmic_study:417 21q22.3 21 44441803G> C null G R 244 244 missense 0.929 probably damaging 0.02 deleterious 1 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs373570133 21q22.3 21 44441806G> T null A S 245 245 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ExAC,gnomAD rs751936328 21q22.3 21 44441809C> T null H Y 246 246 missense 0.001 benign 0.65 tolerated 0 A0A087WT16 TRPM2 Transient receptor potential cation channel subfamily M member 2 ESP,ExAC,TOPMed,gnomAD rs368940698 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 21q22.3 21 44441813A> G null Y C 247 247 missense 0.961 probably damaging 0.0 deleterious 1 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs1204620961 5q35.2 5 176352708G> A null T I 2 2 missense 0.048 benign 0.0 deleterious - low confidence 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX Ensembl rs930001605 5q35.2 5 176352697C> T null A T 6 6 missense 0.022 benign 0.27 tolerated - low confidence 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs1194842755 5q35.2 5 176352693A> G null I T 7 7 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX Ensembl rs1561754157 5q35.2 5 176352694T> C null I V 7 7 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs917258250 5q35.2 5 176352686A> C null S R 9 9 missense 0.054 benign 0.07 tolerated - low confidence 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs747793573 5q35.2 5 176352685C> A null V L 10 10 missense 0.018 benign 0.28 tolerated - low confidence 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs747793573 5q35.2 5 176352685C> T null V M 10 10 missense 0.013 benign 0.37 tolerated - low confidence 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1370785029 5q35.2 5 176352677C> G null K N 12 12 missense 0.9 possibly damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX Ensembl rs11542892 5q35.2 5 176352672G> C null P R 14 14 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1194702996 5q35.2 5 176352670C> G null V L 15 15 missense 0.719 possibly damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX Ensembl rs992880045 5q35.2 5 176352661C> T null A T 18 18 missense 0.193 benign 0.14 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1208346334 5q35.2 5 176352654G> T null A D 20 20 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1256397910 5q35.2 5 176352655C> T null A T 20 20 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,TOPMed,gnomAD rs376065635 5q35.2 5 176352648T> G null H P 22 22 missense 0.425 benign 0.05 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX Ensembl rs979024280 5q35.2 5 176352647A> C null H Q 22 22 missense 0.143 benign 0.07 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,TOPMed,gnomAD rs376065635 5q35.2 5 176352648T> C null H R 22 22 missense 0.006 benign 0.18 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1195724332 5q35.2 5 176352646C> T null V I 23 23 missense 0.015 benign 0.69 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1484138102 5q35.2 5 176352633G> C null S C 27 27 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1484138102 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q35.2 5 176352633G> T null S Y 27 27 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs968650158 5q35.2 5 176352624G> C null T R 30 30 missense 0.945 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1334246504 5q35.2 5 176350735G> A null Q * 32 32 stop gained 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX Ensembl rs1561751468 5q35.2 5 176350721G> T null S R 36 36 missense 0.025 benign 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs780883518 5q35.2 5 176350708C> G null E Q 41 41 missense 0.926 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,TOPMed,gnomAD rs374948228 5q35.2 5 176350705G> A null R * 42 42 stop gained 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs780376526 5q35.2 5 176350704C> T null R Q 42 42 missense 0.0 benign 1.0 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs746348606 5q35.2 5 176350702G> A null Q * 43 43 stop gained 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ExAC,gnomAD rs200586252 5q35.2 5 176350687C> T null D N 48 48 2.0E-4 missense 0.744 possibly damaging 0.05 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ExAC,gnomAD rs200586252 5q35.2 5 176350687C> A null D Y 48 48 2.0E-4 missense 0.302 benign 0.02 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs753856794 5q35.2 5 176350678A> G null Y H 51 51 missense 0.909 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs756381406 5q35.2 5 176350674G> A null T I 52 52 missense 0.956 probably damaging 0.03 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs764450598 5q35.2 5 176350675T> G null T P 52 52 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs751419714 5q35.2 5 176350669G> C null H D 54 54 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs766231994 5q35.2 5 176350666T> C null K E 55 55 missense 0.604 possibly damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs766231994 5q35.2 5 176350666T> G null K Q 55 55 missense 0.827 possibly damaging 0.02 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs762802363 5q35.2 5 176350663C> T null G S 56 56 missense 0.971 probably damaging 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs765075084 5q35.2 5 176350657T> C null T A 58 58 missense 0.013 benign 0.02 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs1351187423 5q35.2 5 176350656G> T null T N 58 58 missense 0.037 benign 0.08 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs768347296 5q35.2 5 176350651C> T null E K 60 60 missense 0.09 benign 0.03 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs1222728756 5q35.2 5 176350644G> A null T I 62 62 missense 0.009 benign 0.04 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs1487924645 5q35.2 5 176350641T> C null K R 63 63 missense 0.508 possibly damaging 0.39 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs775865986 5q35.2 5 176350638T> C null Y C 64 64 missense 0.891 possibly damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1030299777 5q35.2 5 176350633G> A null R * 66 66 stop gained 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs772415021 5q35.2 5 176350632C> G null R P 66 66 missense 0.769 possibly damaging 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs772415021 5q35.2 5 176350632C> T null R Q 66 66 missense 0.047 benign 0.08 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1348272485 5q35.2 5 176350629A> T null V E 67 67 missense 0.085 benign 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1348272485 5q35.2 5 176350629A> C null V G 67 67 missense 0.827 possibly damaging 0.06 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs746204405 5q35.2 5 176350630C> T null V M 67 67 missense 0.414 benign 0.17 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1240716783 5q35.2 5 176350626G> T null A D 68 68 missense 0.586 possibly damaging 0.05 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs4368747 5q35.2 5 176350627C> T null A T 68 68 missense 0.465 possibly damaging 0.07 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,NCI-TCGA,gnomAD rs749427721 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 5q35.2 5 176350624C> T null E K 69 69 missense 0.298 benign 0.06 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1437955852 5q35.2 5 176350621C> T null A T 70 70 missense 0.535 possibly damaging 0.09 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1317186935 5q35.2 5 176350618G> A null L F 71 71 missense 0.022 benign 0.11 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs35918550 5q35.2 5 176350614T> C null H R 72 72 missense 0.918 probably damaging 0.03 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1178851980 5q35.2 5 176348353G> T null L I 74 74 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs1260680492 5q35.2 5 176348352A> G null L P 74 74 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1204697693 5q35.2 5 176348346A> G null L S 76 76 missense 0.787 possibly damaging 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1045076506 5q35.2 5 176348342C> A null Q H 77 77 missense 0.022 benign 0.13 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs906559090 5q35.2 5 176348344G> T null Q K 77 77 missense 0.6 possibly damaging 0.09 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,TOPMed,gnomAD rs140675968 5q35.2 5 176348340C> T null S N 78 78 missense 0.006 benign 0.13 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs778001102 5q35.2 5 176348332C> T null V I 81 81 missense 0.0 benign 0.51 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs1365328112 5q35.2 5 176348318C> G null E D 85 85 missense 0.024 benign 0.83 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs769933181 5q35.2 5 176348317T> C null R G 86 86 missense 0.053 benign 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs35401718 5q35.2 5 176348312C> G null Q H 87 87 missense 0.007 benign 0.08 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs35401718 5q35.2 5 176348312C> A null Q H 87 87 missense 0.007 benign 0.08 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1212072133 5q35.2 5 176348308C> G null A P 89 89 missense 0.731 possibly damaging 0.02 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes rs200403055 5q35.2 5 176348307G> A null A V 89 89 missense 0.013 benign 0.07 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs748222674 5q35.2 5 176348297C> A null Q H 92 92 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs948660738 5q35.2 5 176348284T> C null T A 97 97 missense 0.0 benign 0.11 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,TOPMed,gnomAD rs376399956 5q35.2 5 176348277G> A null P L 99 99 missense 0.11 benign 0.03 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1230212155 5q35.2 5 176348272A> G null S P 101 101 missense 0.668 possibly damaging 0.07 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs778524314 5q35.2 5 176348271G> T null S Y 101 101 missense 0.668 possibly damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs757251750 5q35.2 5 176348268G> T null S * 102 102 missense 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX Ensembl rs537783444 5q35.2 5 176348259T> C null Q R 105 105 missense 0.013 benign 0.21 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1466949585 5q35.2 5 176348257T> C null R G 106 106 missense 0.0 benign 0.07 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1354485699 5q35.2 5 176348253G> A null P L 107 107 missense 0.003 benign 0.67 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs773683998 5q35.2 5 176348061C> G null G A 109 109 missense 0.762 possibly damaging 0.12 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs773683998 5q35.2 5 176348061C> T null G D 109 109 missense 0.913 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs1236144635 5q35.2 5 176348057C> A null W C 110 110 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX Ensembl rs1561747591 5q35.2 5 176348056A> C null F V 111 111 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1212543062 5q35.2 5 176348052G> A null T I 112 112 missense 0.003 benign 0.04 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs985789948 5q35.2 5 176348041A> C null S A 116 116 missense 0.006 benign 0.19 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs768553098 5q35.2 5 176348037G> A null T I 117 117 missense 0.007 benign 0.27 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1459347421 5q35.2 5 176348031A> G null L S 119 119 missense 0.096 benign 0.24 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1305318593 5q35.2 5 176348028G> A null P L 120 120 missense 0.344 benign 0.1 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1305318593 5q35.2 5 176348028G> C null P R 120 120 missense 0.463 possibly damaging 0.04 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1316695387 5q35.2 5 176348029G> T null P T 120 120 missense 0.011 benign 0.42 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1410134294 5q35.2 5 176348025C> A null G V 121 121 missense 0.676 possibly damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs775634249 5q35.2 5 176348023G> A null P S 122 122 missense 0.066 benign 0.39 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs772248493 5q35.2 5 176348016G> A null P L 124 124 missense 0.0 benign 0.68 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1438766281 5q35.2 5 176348010G> A null T I 126 126 missense 0.117 benign 0.12 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC rs749129915 5q35.2 5 176348008T> C null M V 127 127 missense 0.085 benign 0.57 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,TOPMed,gnomAD rs150958471 5q35.2 5 176347995C> T null S N 131 131 missense 0.006 benign 0.38 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,TOPMed,gnomAD rs150958471 5q35.2 5 176347995C> G null S T 131 131 missense 0.167 benign 0.43 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX Ensembl rs759121830 5q35.2 5 176347988A> T null D E 133 133 missense 0.018 benign 0.4 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ExAC,TOPMed,gnomAD rs149112996 5q35.2 5 176347987T> C null K E 134 134 2.0E-4 missense 0.058 benign 0.7 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1362938184 5q35.2 5 176347986T> G null K T 134 134 missense 0.086 benign 0.39 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1027870631 5q35.2 5 176347984C> A null D Y 135 135 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs898031035 5q35.2 5 176347968T> C null D G 140 140 missense 0.603 possibly damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1430923648 5q35.2 5 176347966T> C null K E 141 141 missense 0.673 possibly damaging 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs1203752927 5q35.2 5 176347965T> C null K R 141 141 missense 0.067 benign 0.8 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1268933727 5q35.2 5 176347963A> T null W R 142 142 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs754501624 5q35.2 5 176347957G> A null L F 144 144 missense 0.005 benign 0.67 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs754501624 5q35.2 5 176347957G> T null L I 144 144 missense 0.066 benign 0.25 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1485350009 5q35.2 5 176347948G> C null P A 147 147 missense 0.013 benign 0.02 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ExAC,TOPMed,gnomAD rs544176407 5q35.2 5 176347947G> A null P L 147 147 2.0E-4 missense 0.396 benign 0.04 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ExAC,TOPMed,gnomAD rs544176407 5q35.2 5 176347947G> T null P Q 147 147 2.0E-4 missense 0.846 possibly damaging 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed rs1482409898 5q35.2 5 176347938A> G null L P 150 150 missense 0.952 probably damaging 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX Ensembl rs1561747086 5q35.2 5 176347936G> C null Q E 151 151 missense 0.987 probably damaging 0.16 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,gnomAD rs558782507 5q35.2 5 176347926T> C null D G 154 154 2.0E-4 missense 0.438 benign 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs762386960 5q35.2 5 176347927C> T null D N 154 154 missense 0.058 benign 0.05 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ExAC,gnomAD rs569550871 5q35.2 5 176347808C> T null G E 156 156 2.0E-4 missense 0.647 possibly damaging 0.03 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1383100913 5q35.2 5 176347921C> T null G R 156 156 missense 0.063 benign 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ExAC,gnomAD rs569550871 5q35.2 5 176347808C> A null G V 156 156 2.0E-4 missense 0.04 benign 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ExAC,gnomAD rs550630099 5q35.2 5 176347805C> G null S T 157 157 2.0E-4 missense 0.059 benign 0.03 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs750033735 5q35.2 5 176347797T> C null T A 160 160 missense 0.036 benign 0.06 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,TOPMed,gnomAD rs144539256 5q35.2 5 176347796G> A null T I 160 160 missense 0.0 benign 0.62 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,TOPMed,gnomAD rs144539256 5q35.2 5 176347796G> T null T N 160 160 missense 0.461 possibly damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs757621868 5q35.2 5 176347791C> T null A T 162 162 missense 0.003 benign 0.48 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1054413164 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 5q35.2 5 176347785G> A null R * 164 164 stop gained 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1054413164 5q35.2 5 176347785G> C null R G 164 164 missense 0.018 benign 0.09 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs764555730 5q35.2 5 176347784C> T null R Q 164 164 missense 0.227 benign 0.3 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs761191989 5q35.2 5 176347770G> A null P S 169 169 missense 0.278 benign 0.24 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139751460 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q35.2 5 176347749G> A null R C 176 176 missense 0.015 benign 0.03 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs202202440 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 5q35.2 5 176347748C> T null R H 176 176 2.0E-4 missense 0.015 benign 0.14 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ExAC,TOPMed,gnomAD rs202202440 5q35.2 5 176347748C> A null R L 176 176 2.0E-4 missense 0.28 benign 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ExAC,TOPMed,gnomAD rs202202440 5q35.2 5 176347748C> G null R P 176 176 2.0E-4 missense 0.78 possibly damaging 0.06 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1477945601 5q35.2 5 176347746C> A null A S 177 177 missense 0.26 benign 0.28 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1257184785 5q35.2 5 176347745G> A null A V 177 177 missense 0.005 benign 0.38 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1185894615 5q35.2 5 176347742T> G null Q P 178 178 missense 0.974 probably damaging 0.03 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1185894615 5q35.2 5 176347742T> C null Q R 178 178 missense 0.961 probably damaging 0.04 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199852600 5q35.2 5 176347734G> A null R * 181 181 2.0E-4 stop gained 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,TOPMed,gnomAD rs370474215 5q35.2 5 176347733C> T null R Q 181 181 missense 0.086 benign 0.16 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs746925317 5q35.2 5 176347729C> T null M I 182 182 missense 0.0 benign 0.41 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,TOPMed,gnomAD rs200927591 5q35.2 5 176347721T> C null D G 185 185 missense 0.904 possibly damaging 0.06 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs554477005 5q35.2 5 176347719G> C null P A 186 186 missense 0.352 benign 0.06 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1334471690 5q35.2 5 176347718G> C null P R 186 186 missense 0.847 possibly damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1445501127 5q35.2 5 176347715G> A null A V 187 187 missense 0.111 benign 0.13 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1342095755 5q35.2 5 176347704G> A null P S 191 191 missense 0.944 probably damaging 0.05 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP rs144822999 5q35.2 5 176347700G> C null P R 192 192 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs745362392 5q35.2 5 176347697T> C null K R 193 193 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs756905863 5q35.2 5 176347676T> G null E A 200 200 missense 0.337 benign 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1465773882 5q35.2 5 176347673C> T null G E 201 201 missense 0.04 benign 0.1 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs754174492 5q35.2 5 176347671T> C null K E 202 202 missense 0.298 benign 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1161133836 5q35.2 5 176347669C> G null K N 202 202 missense 0.074 benign 0.08 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs778156865 5q35.2 5 176347668T> C null K E 203 203 missense 0.54 possibly damaging 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1181711132 5q35.2 5 176347666T> G null K N 203 203 missense 0.787 possibly damaging 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1369461974 5q35.2 5 176347667T> C null K R 203 203 missense 0.058 benign 0.63 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs756580380 5q35.2 5 176347663C> A null Q H 204 204 missense 0.346 benign 0.22 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1240055536 5q35.2 5 176347661G> A null P L 205 205 missense 0.0 benign 0.41 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs767997983 5q35.2 5 176347658G> A null P L 206 206 missense 0.006 benign 0.07 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs753140539 5q35.2 5 176347659G> A null P S 206 206 missense 0.033 benign 0.12 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1230304477 5q35.2 5 176347655C> T null R Q 207 207 missense 0.007 benign 0.07 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ESP,ExAC,TOPMed,gnomAD rs372679140 5q35.2 5 176347656G> A null R W 207 207 missense 0.011 benign 0.05 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs751606711 5q35.2 5 176347653C> T null A T 208 208 missense 0.0 benign 1.0 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs766556830 5q35.2 5 176347649T> G null H P 209 209 missense 0.077 benign 0.05 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs766556830 5q35.2 5 176347649T> C null H R 209 209 missense 0.857 possibly damaging 0.05 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs763188215 5q35.2 5 176347646T> A null N I 210 210 missense 0.648 possibly damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs751890821 5q35.2 5 176347643A> G null L P 211 211 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX TOPMed,gnomAD rs1348840232 5q35.2 5 176347640T> G null K T 212 212 missense 0.935 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,gnomAD rs768432075 5q35.2 5 176347637G> C null P R 213 213 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375399505 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 5q35.2 5 176347635G> A null R C 214 214 2.0E-4 missense 0.082 benign 0.01 deleterious 1 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX Ensembl rs780444541 5q35.2 5 176347634C> T null R H 214 214 missense 0.015 benign 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375399505 5q35.2 5 176347635G> T null R S 214 214 2.0E-4 missense 0.355 benign 0.01 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1254098377 5q35.2 5 176347616G> T null T K 220 220 missense 0.836 possibly damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX ExAC,TOPMed,gnomAD rs745413719 5q35.2 5 176347613G> A null P L 221 221 missense 0.913 probably damaging 0.0 deleterious 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1245125391 5q35.2 5 176347610G> A null T I 222 222 missense 0.893 possibly damaging 0.05 tolerated 0 A0A087WT18 KIAA1191 Putative monooxygenase p33MONOX gnomAD rs1452420185 5q35.2 5 176347602_176347603insTAG A null * S 225 225 stop lost 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782446366 21q22.3 21 44627176C> T null A V 2 2 missense 0.485 possibly damaging 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs377104689 21q22.3 21 44627178G> T null A S 3 3 missense 0.28 benign 0.06 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs377104689 21q22.3 21 44627178G> A null A T 3 3 missense 0.011 benign 0.1 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143023999 21q22.3 21 44627179C> T null A V 3 3 0.008986 missense 0.011 benign 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1420803992 21q22.3 21 44627181T> C null S P 4 4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed,gnomAD rs1182418375 21q22.3 21 44627185C> T null T I 5 5 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200504844 21q22.3 21 44627188T> C null M T 6 6 2.0E-4 missense 0.007 benign 0.07 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934543 21q22.3 21 44627187A> G null M V 6 6 missense 0.013 benign 0.31 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782120929 21q22.3 21 44627194T> C null I T 8 8 missense 0.204 benign 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 Ensembl rs386819189 21q22.3 21 44627192_44627193in v null I V 8 8 missense 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs193155432 21q22.3 21 44627193A> G null I V 8 8 0.005391 missense 0.003 benign 1.0 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200370315 21q22.3 21 44627196C> T null R C 9 9 0.005391 missense 0.0 benign 1.0 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934550 21q22.3 21 44627197G> A null R H 9 9 missense 0.125 benign 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782435326 21q22.3 21 44627200C> T null S F 10 10 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368333322 21q22.3 21 44627204C> G null S R 11 11 3.99E-4 missense 0.892 possibly damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs587748715 21q22.3 21 44627205G> C null A P 12 12 2.0E-4 missense 0.404 benign 0.32 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs587748715 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44627205G> A null A T 12 12 2.0E-4 missense 0.003 benign 0.66 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934556 21q22.3 21 44627206C> T null A V 12 12 missense 0.031 benign 0.6 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs199682594 21q22.3 21 44627209A> G null Y C 13 13 2.0E-4 missense 0.001 benign 0.5 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782189521 21q22.3 21 44627211T> C null S P 14 14 missense 0.038 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782380522 21q22.3 21 44627216C> G null D E 15 15 missense 0.068 benign 0.35 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs370826991 21q22.3 21 44627214G> A null D N 15 15 missense 0.154 benign 0.25 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs111349187 21q22.3 21 44627222G> A null W * 17 17 stop gained 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782002320 21q22.3 21 44627226G> A null V M 19 19 missense 0.488 possibly damaging 0.04 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934563 21q22.3 21 44627230A> G null D G 20 20 missense 0.699 possibly damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934562 21q22.3 21 44627229G> C null D H 20 20 missense 0.938 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782083605 21q22.3 21 44627233A> C null D A 21 21 missense 0.07 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782735307 21q22.3 21 44627234C> G null D E 21 21 missense 0.503 possibly damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782083605 21q22.3 21 44627233A> G null D G 21 21 missense 0.503 possibly damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs781933449 21q22.3 21 44627232G> C null D H 21 21 missense 0.901 possibly damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,NCI-TCGA,gnomAD rs781933449 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44627232G> A null D N 21 21 missense 0.048 benign 0.2 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC rs587691413 21q22.3 21 44627236G> C null C S 22 22 2.0E-4 missense 0.314 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934565 21q22.3 21 44627239C> G null P R 23 23 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782507473 21q22.3 21 44627238C> T null P S 23 23 missense 0.279 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,NCI-TCGA,TOPMed,gnomAD rs201201187 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 21q22.3 21 44627243G> C null E D 24 24 missense 0.075 benign 0.01 deleterious 1 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373154362 21q22.3 21 44627252T> A null C * 27 27 2.0E-4 stop gained 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782592497 21q22.3 21 44627251G> A null C Y 27 27 missense 0.076 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs200057010 21q22.3 21 44627256C> G null P A 29 29 missense 0.551 possibly damaging 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201295181 21q22.3 21 44627257C> A null P H 29 29 0.001398 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201295181 21q22.3 21 44627257C> T null P L 29 29 0.001398 missense 0.979 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs200057010 21q22.3 21 44627256C> T null P S 29 29 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs200057010 21q22.3 21 44627256C> A null P T 29 29 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs375179678 21q22.3 21 44627260C> A null P H 30 30 3.99E-4 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs375179678 21q22.3 21 44627260C> T null P L 30 30 3.99E-4 missense 0.089 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs375179678 21q22.3 21 44627260C> G null P R 30 30 3.99E-4 missense 0.137 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed,gnomAD rs1247290606 21q22.3 21 44627259C> T null P S 30 30 missense 0.237 benign 0.3 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 Ensembl rs1555934573 21q22.3 21 44627263G> C null C S 31 31 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782010385 21q22.3 21 44627265T> G null C G 32 32 missense 0.011 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782010385 21q22.3 21 44627265T> A null C S 32 32 missense 0.033 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs369270847 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44627268G> A null A T 33 33 2.0E-4 missense 0.017 benign 0.26 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs587608328 21q22.3 21 44627272C> T null T I 34 34 3.99E-4 missense 0.024 benign 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201634375 21q22.3 21 44627271A> C null T P 34 34 0.001597 missense 0.0 benign 1.0 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934579 21q22.3 21 44627274A> T null S C 35 35 missense 0.216 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs200685052 21q22.3 21 44627276C> G null S R 35 35 9.98E-4 missense 0.089 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs201090014 21q22.3 21 44627283G> T null A S 38 38 missense 0.204 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201090014 cosmic curated [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:24121791,cosmic_study:329,cosmic_study:556 21q22.3 21 44627283G> A null A T 38 38 missense 0.011 benign 0.24 tolerated 1 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782451845 21q22.3 21 44627284C> T null A V 38 38 missense 0.019 benign 0.17 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185394765 21q22.3 21 44627287C> T null P L 39 39 5.99E-4 missense 0.026 benign 0.04 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs373004395 21q22.3 21 44627290C> A null A D 40 40 missense 0.338 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,gnomAD rs199690615 21q22.3 21 44627289G> A null A T 40 40 2.0E-4 missense 0.338 benign 0.17 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs373004395 21q22.3 21 44627290C> T null A V 40 40 missense 0.847 possibly damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs200201249 21q22.3 21 44627292C> T null P S 41 41 missense 0.088 benign 0.17 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs200201249 21q22.3 21 44627292C> A null P T 41 41 missense 0.608 possibly damaging 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934586 21q22.3 21 44627297C> A null C * 42 42 stop gained 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs368290603 21q22.3 21 44627296G> C null C S 42 42 missense 0.281 benign 0.05 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs199660261 21q22.3 21 44627302C> A null T N 44 44 missense 0.79 possibly damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1340106264 21q22.3 21 44627301A> C null T P 44 44 missense 0.916 probably damaging 0.07 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs199660261 21q22.3 21 44627302C> G null T S 44 44 missense 0.077 benign 0.24 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs371324099 21q22.3 21 44627307G> A null V I 46 46 missense 0.138 benign 0.61 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs371324099 21q22.3 21 44627307G> C null V L 46 46 missense 0.029 benign 0.42 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,NCI-TCGA,gnomAD rs587734825 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 21q22.3 21 44627311G> A null C Y 47 47 2.0E-4 missense 0.968 probably damaging 0.03 deleterious 1 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782691600 21q22.3 21 44627314C> T null T I 48 48 missense 0.958 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782691600 21q22.3 21 44627314C> A null T N 48 48 missense 0.154 benign 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934593 21q22.3 21 44627317C> G null P R 49 49 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed,gnomAD rs1405548498 21q22.3 21 44627316C> T null P S 49 49 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed,gnomAD rs1326330087 21q22.3 21 44627320T> C null V A 50 50 missense 0.079 benign 0.13 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934596 21q22.3 21 44627319G> A null V M 50 50 missense 0.261 benign 0.06 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782759663 21q22.3 21 44627322A> T null S C 51 51 missense 0.987 probably damaging 0.09 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200464122 21q22.3 21 44627325C> T null R C 52 52 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200905936 21q22.3 21 44627326G> A null R H 52 52 3.99E-4 missense 0.699 possibly damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934605 21q22.3 21 44627328G> A null V I 53 53 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC rs782460019 21q22.3 21 44627332C> G null S C 54 54 missense 0.229 benign 0.09 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,TOPMed,gnomAD rs587717276 21q22.3 21 44627331T> C null S P 54 54 2.0E-4 missense 0.154 benign 0.07 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,TOPMed,gnomAD rs587717276 21q22.3 21 44627331T> A null S T 54 54 2.0E-4 missense 0.826 possibly damaging 0.04 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,TOPMed rs587771194 21q22.3 21 44627334A> T null S C 55 55 2.0E-4 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782231253 21q22.3 21 44627338C> G null P R 56 56 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 Ensembl rs1569227248 21q22.3 21 44627340T> C null C R 57 57 missense 0.242 benign 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79806035 21q22.3 21 44627341G> A null C Y 57 57 0.02197 missense 0.988 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934617 21q22.3 21 44627344G> T null C F 58 58 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782011268 21q22.3 21 44627347A> T null Q L 59 59 missense 0.915 probably damaging 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782011268 21q22.3 21 44627347A> G null Q R 59 59 missense 0.314 benign 0.06 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782283195 21q22.3 21 44627350T> C null V A 60 60 missense 0.001 benign 1.0 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782283195 21q22.3 21 44627350T> A null V E 60 60 missense 0.232 benign 0.24 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782064787 21q22.3 21 44627352A> G null T A 61 61 missense 0.0 benign 1.0 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 Ensembl rs1569227276 21q22.3 21 44627353C> T null T I 61 61 missense 0.006 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782757207 21q22.3 21 44627361C> T null P S 64 64 missense 0.027 benign 0.67 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782757207 21q22.3 21 44627361C> A null P T 64 64 missense 0.43 benign 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,gnomAD rs373612025 21q22.3 21 44627365G> A null S N 65 65 missense 0.052 benign 0.05 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934620 21q22.3 21 44627366C> A null S R 65 65 missense 0.076 benign 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs2020053 21q22.3 21 44627367C> G null P A 66 66 missense 0.029 benign 0.08 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934621 21q22.3 21 44627372C> A null C * 67 67 stop gained 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed,gnomAD rs1332787795 21q22.3 21 44627386C> G null T S 72 72 missense 0.138 benign 0.17 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376626071 21q22.3 21 44627398C> T null T M 76 76 2.0E-4 missense 0.301 benign 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs587636089 21q22.3 21 44627404C> T null S L 78 78 3.99E-4 missense 0.031 benign 0.13 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934627 21q22.3 21 44627407G> A null C Y 79 79 missense 0.965 probably damaging 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1240163156 21q22.3 21 44627412C> T null Q * 81 81 stop gained 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,TOPMed,gnomAD rs587768736 21q22.3 21 44627414G> T null Q H 81 81 2.0E-4 missense 0.072 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs200443060 21q22.3 21 44627418T> C null S P 83 83 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934631 21q22.3 21 44627419C> A null S Y 83 83 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs377346344 21q22.3 21 44627421A> T null S C 84 84 missense 1.0 probably damaging 0.18 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,TOPMed rs587637334 21q22.3 21 44627425G> A null C Y 85 85 2.0E-4 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934636 21q22.3 21 44627427C> T null Q * 86 86 stop gained 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed,gnomAD rs1313754861 21q22.3 21 44627428A> G null Q R 86 86 missense 0.076 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62220926 21q22.3 21 44627431C> T null P L 87 87 0.1408 missense 0.015 benign 0.08 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782385339 21q22.3 21 44627430C> A null P T 87 87 missense 0.43 benign 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62220927 21q22.3 21 44627437A> G null Y C 89 89 0.1512 missense 0.0 benign 1.0 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782079365 21q22.3 21 44627441C> G null C W 90 90 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs781932346 21q22.3 21 44627440G> A null C Y 90 90 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs781857324 21q22.3 21 44627442A> G null T A 91 91 missense 0.109 benign 0.08 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782792822 21q22.3 21 44627443C> A null T N 91 91 missense 0.958 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs781857324 21q22.3 21 44627442A> T null T S 91 91 missense 0.711 possibly damaging 0.15 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs367973343 21q22.3 21 44627446C> T null S F 92 92 missense 0.227 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs367973343 21q22.3 21 44627446C> A null S Y 92 92 missense 0.932 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934646 21q22.3 21 44627449C> T null S F 93 93 missense 0.229 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782588315 21q22.3 21 44627451C> T null P S 94 94 missense 0.115 benign 0.06 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1162182657 21q22.3 21 44627454T> G null C G 95 95 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs371551521 21q22.3 21 44627456C> G null C W 95 95 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed rs781824928 21q22.3 21 44627455G> A null C Y 95 95 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1183824136 21q22.3 21 44627461A> C null Q P 97 97 missense 0.109 benign 0.22 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934659 21q22.3 21 44627464C> G null A G 98 98 missense 0.35 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782655437 21q22.3 21 44627463G> T null A S 98 98 missense 0.027 benign 0.32 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782273554 21q22.3 21 44627467G> A null C Y 99 99 missense 0.968 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs374240423 21q22.3 21 44627470G> C null C S 100 100 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1240199631 21q22.3 21 44627469T> A null C S 100 100 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs587677446 21q22.3 21 44627472G> T null V L 101 101 2.0E-4 missense 0.176 benign 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs587677446 21q22.3 21 44627472G> A null V M 101 101 2.0E-4 missense 0.194 benign 0.06 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs368760335 21q22.3 21 44627475C> T null P S 102 102 missense 0.177 benign 0.06 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,NCI-TCGA,TOPMed,gnomAD rs782122695 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44627478G> A null V I 103 103 missense 0.011 benign 0.14 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934679 21q22.3 21 44627491C> T null P L 107 107 missense 0.204 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs372273788 21q22.3 21 44627490C> T null P S 107 107 missense 0.013 benign 0.07 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs781810515 21q22.3 21 44627497G> C null C S 109 109 missense 0.124 benign 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs8126553 21q22.3 21 44627501C> G null C W 110 110 0.2129 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934684 21q22.3 21 44627500G> A null C Y 110 110 missense 0.061 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs781867796 21q22.3 21 44627502G> C null V L 111 111 missense 0.051 benign 0.15 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs781867796 21q22.3 21 44627502G> A null V M 111 111 missense 0.057 benign 0.13 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934691 21q22.3 21 44627505C> T null P S 112 112 missense 0.071 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1419113713 21q22.3 21 44627509T> C null V A 113 113 missense 0.007 benign 0.04 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs781784058 21q22.3 21 44627508G> A null V I 113 113 missense 0.007 benign 0.26 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934698 21q22.3 21 44627512G> T null C F 114 114 missense 0.856 possibly damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782085737 21q22.3 21 44627733T> G null C G 115 115 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782749525 21q22.3 21 44627738G> T null K N 116 116 missense 0.139 benign 0.16 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed,gnomAD rs1441014775 21q22.3 21 44627737A> C null K T 116 116 missense 0.103 benign 0.52 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,NCI-TCGA,TOPMed,gnomAD rs782140281 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44627739C> T null P S 117 117 missense 0.034 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782140281 21q22.3 21 44627739C> A null P T 117 117 missense 0.02 benign 0.06 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs149336073 21q22.3 21 44627742G> T null V F 118 118 missense 0.423 benign 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs149336073 21q22.3 21 44627742G> A null V I 118 118 missense 0.009 benign 0.11 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782594387 21q22.3 21 44627746G> A null C Y 119 119 missense 0.025 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1203720966 21q22.3 21 44627751A> C null K Q 121 121 missense 0.706 possibly damaging 0.05 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1242880374 21q22.3 21 44627755C> T null P L 122 122 missense 0.767 possibly damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed,gnomAD rs1287397213 21q22.3 21 44627754C> T null P S 122 122 missense 0.049 benign 0.04 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed,gnomAD rs1287397213 21q22.3 21 44627754C> A null P T 122 122 missense 0.503 possibly damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,gnomAD rs190691192 21q22.3 21 44627758T> A null I N 123 123 2.0E-4 missense 0.43 benign 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782646152 21q22.3 21 44627760T> C null C R 124 124 missense 0.759 possibly damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367772666 21q22.3 21 44627764G> A null C Y 125 125 2.0E-4 missense 0.11 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116600158 21q22.3 21 44627769C> T null P S 127 127 0.01138 missense 0.787 possibly damaging 0.04 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934827 21q22.3 21 44627776G> T null C F 129 129 missense 0.978 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1359595548 21q22.3 21 44627782G> A null G E 131 131 missense 0.007 benign 0.22 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782120545 21q22.3 21 44627788C> T null S F 133 133 missense 0.947 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782026502 21q22.3 21 44627800G> A null C Y 137 137 missense 0.357 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934840 21q22.3 21 44627802C> G null Q E 138 138 missense 0.696 possibly damaging 0.1 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782047305 21q22.3 21 44627804G> T null Q H 138 138 missense 0.968 probably damaging 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782705644 21q22.3 21 44627805C> A null Q K 139 139 missense 0.997 probably damaging 0.14 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782092761 21q22.3 21 44627808T> C null S P 140 140 missense 0.048 benign 0.11 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78393062 21q22.3 21 44627811G> A null G S 141 141 0.01737 missense 0.0 benign 1.0 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934846 21q22.3 21 44627815G> A null C Y 142 142 missense 0.109 benign 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782533154 21q22.3 21 44627821C> T null P L 144 144 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782471443 21q22.3 21 44627828C> A null C * 146 146 stop gained 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs781795345 21q22.3 21 44627827G> A null C Y 146 146 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed,gnomAD rs1219528002 21q22.3 21 44627831C> A null C * 147 147 stop gained 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934855 21q22.3 21 44627832A> T null T S 148 148 missense 0.125 benign 0.23 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782233032 21q22.3 21 44627835A> T null T S 149 149 missense 0.006 benign 1.0 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782654914 21q22.3 21 44627844T> C null C R 152 152 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs180759098 21q22.3 21 44627845G> A null C Y 152 152 5.99E-4 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782308481 21q22.3 21 44627851C> T null P L 154 154 missense 0.652 possibly damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1268659976 21q22.3 21 44627854C> T null S F 155 155 missense 0.045 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1339669148 21q22.3 21 44627860C> G null S C 157 157 missense 0.007 benign 0.68 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142813376 21q22.3 21 44627862G> C null V L 158 158 0.01098 missense 0.015 benign 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142813376 21q22.3 21 44627862G> A null V M 158 158 0.01098 missense 0.173 benign 0.15 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs368830074 21q22.3 21 44627868C> T null L F 160 160 missense 0.677 possibly damaging 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed,gnomAD rs1424867168 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 21q22.3 21 44627871C> T null L F 161 161 missense 0.722 possibly damaging 0.07 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934873 21q22.3 21 44627876C> A null C * 162 162 stop gained 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,TOPMed,gnomAD rs183723327 21q22.3 21 44627877C> T null R C 163 163 3.99E-4 missense 0.014 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs377764173 21q22.3 21 44627878G> A null R H 163 163 missense 0.007 benign 0.04 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1158516946 21q22.3 21 44627965C> G null A G 165 165 missense 0.062 benign 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934924 21q22.3 21 44627970T> C null C R 167 167 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs201944389 21q22.3 21 44627971G> C null C S 167 167 missense 0.999 probably damaging 0.24 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs201944389 21q22.3 21 44627971G> A null C Y 167 167 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1210525534 21q22.3 21 44627973G> A null V M 168 168 missense 0.759 possibly damaging 0.25 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934932 21q22.3 21 44627977C> A null S Y 169 169 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782164729 21q22.3 21 44627985T> G null C G 172 172 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1239265908 cosmic curated [Cosmic]: pancreas cosmic_study:586 21q22.3 21 44627986G> A null C Y 172 172 missense 0.996 probably damaging 0.02 deleterious 1 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782610949 21q22.3 21 44627988C> T null R C 173 173 missense 0.778 possibly damaging 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs587668632 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:375 21q22.3 21 44627989G> A null R H 173 173 2.0E-4 missense 0.009 benign 0.1 tolerated 1 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,gnomAD rs188510491 21q22.3 21 44627992C> T null P L 174 174 3.99E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782143177 21q22.3 21 44627995T> C null V A 175 175 missense 0.0 benign 0.61 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 Ensembl rs879955609 21q22.3 21 44627994G> T null V L 175 175 missense 0.007 benign 0.1 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934939 21q22.3 21 44627997T> C null C R 176 176 missense 0.587 possibly damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782800742 21q22.3 21 44627998G> A null C Y 176 176 missense 0.729 possibly damaging 0.0 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ExAC,TOPMed,gnomAD rs587619554 21q22.3 21 44628001C> A null S Y 177 177 2.0E-4 missense 0.906 possibly damaging 0.05 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs113691502 21q22.3 21 44628003C> T null R C 178 178 5.99E-4 missense 0.003 benign 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782602824 21q22.3 21 44628004G> A null R H 178 178 missense 0.003 benign 0.07 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 TOPMed rs1420837019 21q22.3 21 44628007C> T null P L 179 179 missense 0.006 benign 0.05 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782279790 21q22.3 21 44628013G> C null C S 181 181 missense 0.01 benign 0.03 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs782279790 21q22.3 21 44628013G> A null C Y 181 181 missense 0.638 possibly damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs376947595 21q22.3 21 44628016A> G null Y C 182 182 missense 0.0 benign 1.0 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ESP,ExAC,TOPMed,gnomAD rs201074217 21q22.3 21 44628015T> C null Y H 182 182 missense 0.552 possibly damaging 0.01 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934950 21q22.3 21 44628019G> A null S N 183 183 missense 0.014 benign 0.1 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782133208 21q22.3 21 44628021T> C null F L 184 184 missense 0.0 benign 0.81 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,NCI-TCGA,gnomAD rs782405280 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 21q22.3 21 44628025C> G null S C 185 185 missense 0.003 benign 0.1 tolerated 1 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,gnomAD rs782044035 21q22.3 21 44628031G> T null G V 187 187 missense 0.652 possibly damaging 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 ExAC,TOPMed,gnomAD rs200449748 21q22.3 21 44628034A> G null Q R 188 188 missense 0.034 benign 0.02 deleterious 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 gnomAD rs1555934959 21q22.3 21 44628042A> G null S G 191 191 missense 0.009 benign 0.05 tolerated 0 A0A087WT19 KRTAP10-9 Keratin-associated protein 10-9 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140821764 21q22.3 21 44628045T> G null C G 192 192 0.006789 missense 0.919 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs1563722144 8q22.3 8 103414999G> A null W * 3 3 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed rs370320899 8q22.3 8 103415000C> T null P S 4 4 missense 0.439 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1335879289 8q22.3 8 103415004C> T null P L 5 5 missense 0.747 possibly damaging 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1399830804 8q22.3 8 103415003C> A null P T 5 5 missense 0.801 possibly damaging 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs3814106 8q22.3 8 103415006C> G null P A 6 6 2.0E-4 missense 0.059 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1430018669 8q22.3 8 103415007C> T null P L 6 6 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs3814106 8q22.3 8 103415006C> T null P S 6 6 2.0E-4 missense 0.009 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs3814106 8q22.3 8 103415006C> A null P T 6 6 2.0E-4 missense 0.059 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs760825140 8q22.3 8 103415016G> A null R Q 9 9 missense 0.005 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs752932122 8q22.3 8 103415015C> T null R W 9 9 missense 0.653 possibly damaging 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs991567038 8q22.3 8 103415022C> T null P L 11 11 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs767072080 8q22.3 8 103415025T> G null L R 12 12 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,gnomAD rs199877106 8q22.3 8 103415028T> C null V A 13 13 2.0E-4 missense 0.001 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1344510727 8q22.3 8 103415027G> A null V M 13 13 missense 0.021 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs757191177 8q22.3 8 103415031G> A null S N 14 14 missense 0.037 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1445606240 8q22.3 8 103415032C> A null S R 14 14 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs778880688 8q22.3 8 103415033G> A null A T 15 15 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs750253444 8q22.3 8 103415036A> G null T A 16 16 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,gnomAD rs543197401 8q22.3 8 103415037C> T null T I 16 16 2.0E-4 missense 0.027 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs750253444 8q22.3 8 103415036A> T null T S 16 16 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs779935311 8q22.3 8 103415039C> G null P A 17 17 missense 0.088 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1012703713 8q22.3 8 103415040C> T null P L 17 17 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs746663173 8q22.3 8 103415042C> T null P S 18 18 missense 0.157 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs746663173 8q22.3 8 103415042C> A null P T 18 18 missense 0.059 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1173967377 8q22.3 8 103415045C> T null P S 19 19 missense 0.031 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs941958180 8q22.3 8 103415052C> T null P L 21 21 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs941958180 8q22.3 8 103415052C> G null P R 21 21 missense 0.001 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs768382507 8q22.3 8 103415054A> G null T A 22 22 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1298763172 8q22.3 8 103415055C> T null T M 22 22 missense 0.062 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1298763172 8q22.3 8 103415055C> G null T R 22 22 missense 0.024 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs768382507 8q22.3 8 103415054A> T null T S 22 22 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs747668941 8q22.3 8 103415059A> T null R S 23 23 missense 0.001 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs971513571 8q22.3 8 103415061G> A null G E 24 24 missense 0.19 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,gnomAD rs555069499 8q22.3 8 103415060G> A null G R 24 24 2.0E-4 missense 0.012 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed rs143980576 8q22.3 8 103415067T> C null L S 26 26 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1216298206 8q22.3 8 103415071C> A null C * 27 27 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1276805790 8q22.3 8 103415069T> G null C G 27 27 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1276805790 8q22.3 8 103415069T> C null C R 27 27 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1216298206 8q22.3 8 103415071C> G null C W 27 27 missense 0.115 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs775796602 8q22.3 8 103415070G> A null C Y 27 27 missense 0.006 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs897683832 8q22.3 8 103415075A> G null R G 29 29 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs182570628 8q22.3 8 103415076G> A null R K 29 29 2.0E-4 missense 0.01 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs764280139 8q22.3 8 103415077G> C null R S 29 29 missense 0.001 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs753905788 8q22.3 8 103415078C> A null R S 30 30 missense 0.006 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC rs761950146 8q22.3 8 103415082T> G null V G 31 31 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs765146546 8q22.3 8 103415085G> A null S N 32 32 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs750385901 8q22.3 8 103415086C> G null S R 32 32 missense 0.046 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs765146546 8q22.3 8 103415085G> C null S T 32 32 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1438850899 8q22.3 8 103415089A> C null E D 33 33 missense 0.025 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs758342847 8q22.3 8 103415087G> A null E K 33 33 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1357781708 8q22.3 8 103415090G> A null A T 34 34 missense 0.088 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1422739912 8q22.3 8 103415094G> A null G E 35 35 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1247623049 8q22.3 8 103415093G> A null G R 35 35 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs751350298 8q22.3 8 103415096G> A null D N 36 36 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1018698912 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23856246,cosmic_study:504 8q22.3 8 103415104T> A null S R 38 38 missense 0.0 benign 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1008189539 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23856246,cosmic_study:504 8q22.3 8 103415102A> C null S R 38 38 missense 0.0 benign 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1018698912 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23856246,cosmic_study:504 8q22.3 8 103415104T> G null S R 38 38 missense 0.0 benign 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146161228 8q22.3 8 103415111G> A null G R 41 41 2.0E-4 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs769362347 8q22.3 8 103415112G> T null G V 41 41 missense 0.005 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs746422282 8q22.3 8 103415115C> A null A E 42 42 missense 0.354 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs559258406 8q22.3 8 103415114G> A null A T 42 42 2.0E-4 missense 0.009 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs746422282 8q22.3 8 103415115C> T null A V 42 42 missense 0.005 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs186572903 8q22.3 8 103415117A> G null R G 43 43 2.0E-4 missense 0.009 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs747344058 8q22.3 8 103415118G> T null R I 43 43 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs747344058 8q22.3 8 103415118G> A null R K 43 43 missense 0.005 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs747344058 8q22.3 8 103415118G> C null R T 43 43 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1247990555 8q22.3 8 103415121C> T null T M 44 44 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs762335747 8q22.3 8 103415124G> C null G A 45 45 missense 0.059 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs762335747 8q22.3 8 103415124G> A null G E 45 45 missense 0.087 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1178859628 8q22.3 8 103415123G> A null G R 45 45 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1178859628 8q22.3 8 103415123G> T null G W 45 45 missense 0.007 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146475888 8q22.3 8 103415126C> A null H N 46 46 0.004593 missense 0.013 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146475888 8q22.3 8 103415126C> T null H Y 46 46 0.004593 missense 0.037 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs750774658 8q22.3 8 103415130G> A null R K 47 47 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3134295 8q22.3 8 103415131A> C null R S 47 47 0.4283 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs750774658 8q22.3 8 103415130G> C null R T 47 47 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC rs766393233 8q22.3 8 103415133A> C null H P 48 48 missense 0.044 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs751436268 8q22.3 8 103415134C> G null H Q 48 48 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC rs766393233 8q22.3 8 103415133A> G null H R 48 48 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,gnomAD rs372650826 8q22.3 8 103415137C> A null Y * 49 49 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs370523537 8q22.3 8 103415138G> A null V I 50 50 missense 0.001 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs370523537 8q22.3 8 103415138G> C null V L 50 50 missense 0.044 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs777369507 8q22.3 8 103415142C> A null T K 51 51 missense 0.005 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,TOPMed,gnomAD rs140524999 8q22.3 8 103415145C> T null P L 52 52 missense 0.001 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1312636932 8q22.3 8 103415144C> T null P S 52 52 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs540793825 8q22.3 8 103415147G> A null A T 53 53 missense 0.001 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1316712253 8q22.3 8 103415150G> A null E K 54 54 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1198937330 8q22.3 8 103415153A> G null S G 55 55 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs747434075 8q22.3 8 103415157C> T null A V 56 56 missense 0.003 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs201140690 8q22.3 8 103415160T> G null M R 57 57 5.99E-4 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs374464432 8q22.3 8 103415166G> A null G E 59 59 missense 0.025 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1256797306 8q22.3 8 103415165G> A null G R 59 59 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs769858416 8q22.3 8 103415169G> A null R K 60 60 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1300189405 8q22.3 8 103415170G> C null R S 60 60 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs769858416 8q22.3 8 103415169G> C null R T 60 60 missense 0.009 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1468602420 8q22.3 8 103415172C> T null S F 61 61 missense 0.009 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs773389061 8q22.3 8 103415171T> C null S P 61 61 missense 0.0 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs773389061 8q22.3 8 103415171T> A null S T 61 61 missense 0.007 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1402639203 8q22.3 8 103415174C> T null Q * 62 62 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs774415757 8q22.3 8 103415178C> T null P L 63 63 missense 0.086 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs763090757 8q22.3 8 103415177C> T null P S 63 63 missense 0.005 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs763090757 8q22.3 8 103415177C> A null P T 63 63 missense 0.086 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs549578358 8q22.3 8 103415183C> G null P A 65 65 3.99E-4 missense 0.142 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs368359478 8q22.3 8 103415184C> T null P L 65 65 missense 0.467 possibly damaging 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs368359478 8q22.3 8 103415184C> G null P R 65 65 missense 0.759 possibly damaging 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs549578358 8q22.3 8 103415183C> T null P S 65 65 3.99E-4 missense 0.021 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs753414680 8q22.3 8 103415186A> T null S C 66 66 missense 0.54 possibly damaging 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs753414680 8q22.3 8 103415186A> G null S G 66 66 missense 0.04 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1259597543 8q22.3 8 103415190T> A null L H 67 67 missense 0.281 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs371786632 8q22.3 8 103415193G> A null R H 68 68 missense 0.381 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs371786632 8q22.3 8 103415193G> T null R L 68 68 missense 0.049 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145230539 8q22.3 8 103415196C> G null P R 69 69 9.98E-4 missense 0.39 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs778339663 8q22.3 8 103415195C> T null P S 69 69 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1308230158 8q22.3 8 103415201T> A null S T 71 71 missense 0.109 benign 0.04 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1262332049 8q22.3 8 103415202C> G null S W 71 71 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs748438846 8q22.3 8 103415204C> G null P A 72 72 missense 0.059 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs770090905 8q22.3 8 103415205C> A null P H 72 72 missense 0.464 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs770090905 8q22.3 8 103415205C> T null P L 72 72 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1413044353 8q22.3 8 103415208C> A null T K 73 73 missense 0.087 benign 0.1 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs749433773 8q22.3 8 103415210A> G null N D 74 74 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs771145987 8q22.3 8 103415212T> G null N K 74 74 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC rs774534670 8q22.3 8 103415214C> T null A V 75 75 missense 0.085 benign 0.09 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs924470413 8q22.3 8 103415217C> T null P L 76 76 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs912614655 8q22.3 8 103415216C> T null P S 76 76 missense 0.017 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs760383267 8q22.3 8 103415219G> C null A P 77 77 missense 0.136 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115332818 8q22.3 8 103415222C> T null H Y 78 78 0.008986 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs753503003 8q22.3 8 103415225G> C null G R 79 79 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs761389780 8q22.3 8 103415229G> A null R H 80 80 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs899873931 8q22.3 8 103415232G> A null G E 81 81 missense 0.118 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs764756082 8q22.3 8 103415231G> A null G R 81 81 missense 0.01 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1214134276 8q22.3 8 103415236C> G null S R 82 82 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1405888324 8q22.3 8 103415235G> C null S T 82 82 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1362291671 8q22.3 8 103415239C> G null D E 83 83 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs571660959 8q22.3 8 103415237G> C null D H 83 83 2.0E-4 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs571660959 8q22.3 8 103415237G> A null D N 83 83 2.0E-4 missense 0.007 benign 0.07 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1488607488 8q22.3 8 103415240T> G null C G 84 84 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1488607488 8q22.3 8 103415240T> C null C R 84 84 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,gnomAD rs138240593 8q22.3 8 103415243A> G null T A 85 85 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,gnomAD rs138240593 8q22.3 8 103415243A> T null T S 85 85 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs753168508 8q22.3 8 103415246G> A null A T 86 86 missense 0.005 benign 0.04 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs751713374 8q22.3 8 103415247C> T null A V 86 86 missense 0.087 benign 0.09 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs756417165 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 8q22.3 8 103415249A> G null K E 87 87 missense 0.0 benign 0.4 tolerated - low confidence 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs756417165 8q22.3 8 103415249A> C null K Q 87 87 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs903437784 8q22.3 8 103415253A> C null E A 88 88 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs142266909 8q22.3 8 103415252G> A null E K 88 88 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs142266909 8q22.3 8 103415252G> C null E Q 88 88 missense 0.206 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs779187468 8q22.3 8 103415255C> G null P A 89 89 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs370976960 8q22.3 8 103415256C> T null P L 89 89 missense 0.482 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs767118887 8q22.3 8 103415261C> T null L F 91 91 missense 0.192 benign 0.04 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs375532699 8q22.3 8 103415268A> T null N I 93 93 missense 0.112 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs375532699 8q22.3 8 103415268A> C null N T 93 93 missense 0.025 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs764846524 8q22.3 8 103415271T> A null V D 94 94 missense 0.147 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs764846524 8q22.3 8 103415271T> G null V G 94 94 missense 0.037 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs761475099 8q22.3 8 103415270G> C null V L 94 94 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1308345279 8q22.3 8 103415273T> C null C R 95 95 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs755062543 8q22.3 8 103415276C> G null R G 96 96 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs755062543 8q22.3 8 103415276C> T null R W 96 96 missense 0.555 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1022623083 8q22.3 8 103415286A> G null Y C 99 99 missense 0.912 probably damaging 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs781198907 8q22.3 8 103415289G> C null G A 100 100 missense 0.088 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs781198907 8q22.3 8 103415289G> A null G E 100 100 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1470039020 8q22.3 8 103415291G> T null A S 101 101 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1470039020 8q22.3 8 103415291G> A null A T 101 101 missense 0.031 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs756575758 8q22.3 8 103415292C> T null A V 101 101 missense 0.285 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs558065658 8q22.3 8 103415294G> A null A T 102 102 0.001597 missense 0.009 benign 0.02 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs757596991 8q22.3 8 103415307T> A null V D 106 106 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs754236477 8q22.3 8 103415306G> A null V I 106 106 missense 0.015 benign 0.01 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs779277663 8q22.3 8 103415309G> C null E Q 107 107 missense 0.037 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1164928605 8q22.3 8 103415312C> G null P A 108 108 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs3134296 8q22.3 8 103415313C> T null P L 108 108 0.222 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1164928605 8q22.3 8 103415312C> T null P S 108 108 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148247595 8q22.3 8 103415316C> A null A E 109 109 0.001198 missense 0.087 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148247595 8q22.3 8 103415316C> G null A G 109 109 0.001198 missense 0.059 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs536867587 8q22.3 8 103415315G> A null A T 109 109 2.0E-4 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs776458672 8q22.3 8 103415318G> A null G S 110 110 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1349536016 8q22.3 8 103415321C> T null R C 111 111 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs747906254 8q22.3 8 103415322G> A null R H 111 111 missense 0.003 benign 0.09 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs747906254 8q22.3 8 103415322G> C null R P 111 111 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141239140 8q22.3 8 103415324C> T null R C 112 112 2.0E-4 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141239140 8q22.3 8 103415324C> G null R G 112 112 2.0E-4 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs199979128 8q22.3 8 103415325G> A null R H 112 112 2.0E-4 missense 0.001 benign 0.38 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs199979128 8q22.3 8 103415325G> T null R L 112 112 2.0E-4 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs576324827 8q22.3 8 103415331C> G null A G 114 114 missense 0.257 benign 0.01 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1197041745 8q22.3 8 103415330G> T null A S 114 114 missense 0.202 benign 0.01 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1458520201 8q22.3 8 103415333A> G null S G 115 115 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs773865091 8q22.3 8 103415334G> A null S N 115 115 missense 0.031 benign 0.04 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs201933283 8q22.3 8 103415335T> A null S R 115 115 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs552792650 8q22.3 8 103415336C> T null H Y 116 116 2.0E-4 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs757682864 8q22.3 8 103415343C> G null T S 118 118 missense 0.025 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs754324621 8q22.3 8 103415342A> T null T S 118 118 missense 0.025 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs765639695 8q22.3 8 103415346G> A null G E 119 119 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1301472194 8q22.3 8 103415345G> A null G R 119 119 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs750616498 8q22.3 8 103415349G> A null S N 120 120 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1397264663 8q22.3 8 103415348A> C null S R 120 120 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1332013182 8q22.3 8 103415351A> C null S R 121 121 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs200196313 8q22.3 8 103415353T> G null S R 121 121 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs780018049 8q22.3 8 103415352G> C null S T 121 121 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs938345307 8q22.3 8 103415355T> C null L P 122 122 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs754947807 8q22.3 8 103415362A> C null K N 124 124 missense 0.076 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs781102522 8q22.3 8 103415363G> C null A P 125 125 missense 0.839 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs747990676 8q22.3 8 103415364C> T null A V 125 125 missense 0.087 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1427290957 8q22.3 8 103415367A> G null E G 126 126 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1266353871 cosmic curated [Cosmic]: NS pubmed:24265154,cosmic_study:526 8q22.3 8 103415366G> A null E K 126 126 missense 0.42 benign 0.0 deleterious - low confidence 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs201969417 8q22.3 8 103415373C> A null A D 128 128 missense 0.127 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs769587274 8q22.3 8 103415372G> T null A S 128 128 missense 0.151 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs769587274 8q22.3 8 103415372G> A null A T 128 128 missense 0.007 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs201969417 8q22.3 8 103415373C> T null A V 128 128 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1192229769 8q22.3 8 103415377T> A null C * 129 129 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1476556746 8q22.3 8 103415375T> C null C R 129 129 missense 0.005 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1013106483 8q22.3 8 103415379G> A null G E 130 130 missense 0.299 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs759116193 8q22.3 8 103415378G> A null G R 130 130 missense 0.392 benign 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs764759291 8q22.3 8 103415382G> A null R K 131 131 missense 0.009 benign 0.12 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs1022699885 8q22.3 8 103415385G> C null R T 132 132 missense 0.059 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs201072797 8q22.3 8 103415389G> A null W * 133 133 2.0E-4 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC rs777291787 8q22.3 8 103415388G> A null W * 133 133 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1401294497 8q22.3 8 103415387T> G null W G 133 133 missense 0.013 benign 0.15 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1401294497 8q22.3 8 103415387T> C null W R 133 133 missense 0.0 benign 0.47 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs765729504 8q22.3 8 103415391G> A null R Q 134 134 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs750753908 8q22.3 8 103415395G> A null W * 135 135 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1277716629 8q22.3 8 103415400A> T null E V 137 137 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1330977547 8q22.3 8 103415402C> T null L F 138 138 missense 0.221 benign 0.09 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed rs758594833 8q22.3 8 103415403T> G null L R 138 138 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs751653083 8q22.3 8 103415405C> G null L V 139 139 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,gnomAD rs564038600 8q22.3 8 103415409C> A null A E 140 140 2.0E-4 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,gnomAD rs564038600 8q22.3 8 103415409C> G null A G 140 140 2.0E-4 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,gnomAD rs564038600 8q22.3 8 103415409C> T null A V 140 140 2.0E-4 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs200381394 8q22.3 8 103415413C> G null D E 141 141 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs777448462 8q22.3 8 103415412A> G null D G 141 141 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1487627558 8q22.3 8 103415414A> G null T A 142 142 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs137924177 8q22.3 8 103415415C> T null T I 142 142 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs137924177 8q22.3 8 103415415C> A null T N 142 142 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs137924177 8q22.3 8 103415415C> G null T S 142 142 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1448201487 8q22.3 8 103415417T> G null S A 143 143 missense 0.001 benign 0.36 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs762435482 8q22.3 8 103415418C> T null S L 143 143 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1448201487 8q22.3 8 103415417T> C null S P 143 143 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs762435482 8q22.3 8 103415418C> G null S W 143 143 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1478238018 8q22.3 8 103415423A> G null S G 145 145 missense 0.001 benign 0.4 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs13276522 8q22.3 8 103415424G> T null S I 145 145 missense 0.001 benign 0.01 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs13276522 8q22.3 8 103415424G> A null S N 145 145 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs13278059 8q22.3 8 103415425T> A null S R 145 145 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs763367767 8q22.3 8 103415426C> G null P A 146 146 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs766564702 8q22.3 8 103415427C> T null P L 146 146 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs767614845 8q22.3 8 103415429G> T null A S 147 147 missense 0.015 benign 0.07 tolerated - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1383953505 8q22.3 8 103415430C> T null A V 147 147 missense 0.025 benign 0.03 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1330682550 8q22.3 8 103415435A> G null R G 149 149 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1234218099 8q22.3 8 103415439C> G null A G 150 150 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs777763426 8q22.3 8 103415444G> T null E * 152 152 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1240125608 8q22.3 8 103415446G> C null E D 152 152 missense 0.014 benign 0.02 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs777763426 8q22.3 8 103415444G> C null E Q 152 152 missense 0.025 benign 0.05 deleterious - low confidence 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1335833915 8q22.3 8 103415447A> T null M L 153 153 missense 0.073 benign 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs778509989 8q22.3 8 103415454T> C null V A 155 155 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs757088496 8q22.3 8 103415453G> A null V M 155 155 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1273723153 cosmic curated [Cosmic]: NS pubmed:22722201,cosmic_study:385 8q22.3 8 103415458G> C null K N 156 156 missense 0.997 probably damaging 0.03 deleterious 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1202179705 8q22.3 8 103415456A> C null K Q 156 156 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs369798614 8q22.3 8 103415457A> G null K R 156 156 missense 0.994 probably damaging 0.04 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs369798614 8q22.3 8 103415457A> C null K T 156 156 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs771804248 8q22.3 8 103415461G> T null M I 157 157 missense 0.961 probably damaging 0.2 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1469218384 8q22.3 8 103415459A> G null M V 157 157 missense 0.937 probably damaging 0.9 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs746483356 8q22.3 8 103415471A> C null N H 161 161 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs770268158 8q22.3 8 103415473T> A null N K 161 161 missense 0.995 probably damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1463046788 8q22.3 8 103415472A> G null N S 161 161 missense 0.99 probably damaging 0.53 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs773752617 8q22.3 8 103415474C> T null P S 162 162 missense 0.999 probably damaging 0.12 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs763306761 8q22.3 8 103415477G> C null D H 163 163 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs771331385 8q22.3 8 103415478A> T null D V 163 163 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs531203653 8q22.3 8 103415481A> G null N S 164 164 2.0E-4 missense 0.124 benign 0.23 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1447888490 8q22.3 8 103415493A> C null E A 168 168 missense 0.758 possibly damaging 0.15 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1390102772 8q22.3 8 103415495A> G null T A 169 169 missense 0.991 probably damaging 0.12 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1422266147 8q22.3 8 103415510C> T null Q * 174 174 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs374540163 8q22.3 8 103415511A> C null Q P 174 174 missense 0.816 possibly damaging 0.2 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs374540163 8q22.3 8 103415511A> G null Q R 174 174 missense 0.408 benign 0.16 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs149094412 8q22.3 8 103415514G> A null R K 175 175 2.0E-4 missense 0.033 benign 0.59 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1319194772 8q22.3 8 103415516G> A null V I 176 176 missense 0.99 probably damaging 0.14 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1190094138 8q22.3 8 103420267C> G null P R 177 177 missense 0.999 probably damaging 0.07 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1475593650 8q22.3 8 103420266C> T null P S 177 177 missense 0.999 probably damaging 0.18 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 NCI-TCGA,TOPMed,gnomAD rs773394170 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103420276A> G null Y C 180 180 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs910991799 8q22.3 8 103420279A> G null D G 181 181 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs986486988 8q22.3 8 103420278G> C null D H 181 181 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs373403840 8q22.3 8 103420282C> T null P L 182 182 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs142400258 8q22.3 8 103420285C> T null A V 183 183 missense 0.045 benign 0.26 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1356658878 8q22.3 8 103420291A> G null H R 185 185 missense 0.993 probably damaging 0.05 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs963709767 8q22.3 8 103420300A> C null E A 188 188 missense 0.994 probably damaging 0.21 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1327098942 8q22.3 8 103420303T> C null V A 189 189 missense 0.031 benign 0.78 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs776528395 8q22.3 8 103420302G> A null V I 189 189 missense 0.018 benign 0.17 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs991630748 8q22.3 8 103420308C> T null R * 191 191 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,TOPMed,gnomAD rs761862300 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103420309G> A null R Q 191 191 missense 0.072 benign 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3134253 pubmed:14702039,pubmed:15489334 8q22.3 8 103420317A> G null I V 194 194 0.2534 missense 0.0 benign 0.74 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs758251127 8q22.3 8 103420323G> A null A T 196 196 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1282696082 8q22.3 8 103420328A> C null L F 197 197 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs766215478 8q22.3 8 103420330A> G null N S 198 198 missense 0.719 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs751224801 8q22.3 8 103420341C> G null L V 202 202 missense 0.889 possibly damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1232205585 8q22.3 8 103420345A> G null E G 203 203 missense 0.883 possibly damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,TOPMed,gnomAD rs774270409 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 8q22.3 8 103420347C> T null R * 204 204 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs774270409 8q22.3 8 103420347C> G null R G 204 204 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1320418334 8q22.3 8 103420354T> C null F S 206 206 missense 0.744 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs938512752 8q22.3 8 103420369T> G null L R 211 211 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1421870829 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103420375C> T null S L 213 213 missense 0.534 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,gnomAD rs543023582 8q22.3 8 103420380G> A null D N 215 215 2.0E-4 missense 0.948 probably damaging 0.09 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,gnomAD rs543023582 8q22.3 8 103420380G> T null D Y 215 215 2.0E-4 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs775796517 8q22.3 8 103420384G> A null G D 216 216 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1437197171 8q22.3 8 103420386C> A null H N 217 217 missense 0.742 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs149431013 8q22.3 8 103420389C> T null R C 218 218 missense 0.939 probably damaging 0.04 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs149431013 8q22.3 8 103420389C> G null R G 218 218 missense 0.487 possibly damaging 0.17 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,gnomAD rs768741309 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103420390G> A null R H 218 218 missense 0.885 possibly damaging 0.06 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs768741309 8q22.3 8 103420390G> T null R L 218 218 missense 0.672 possibly damaging 0.14 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs940010734 8q22.3 8 103420398G> A null V I 221 221 missense 0.703 possibly damaging 0.24 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs13272825 8q22.3 8 103420402A> G null N S 222 222 2.0E-4 missense 0.16 benign 0.5 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs898727661 8q22.3 8 103420404T> C null C R 223 223 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs773291851 8q22.3 8 103420408T> A null L * 224 224 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs762913618 8q22.3 8 103420411C> T null A V 225 225 missense 0.883 possibly damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs766307601 8q22.3 8 103420413A> G null K E 226 226 missense 0.741 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1262489537 8q22.3 8 103420414A> G null K R 226 226 missense 0.056 benign 0.2 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1243900525 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103420422G> C null E Q 229 229 missense 0.03 benign 0.13 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1487652776 8q22.3 8 103420426A> G null K R 230 230 missense 0.0 benign 0.35 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1321239865 8q22.3 8 103420428C> G null L V 231 231 missense 0.094 benign 0.05 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143025416 8q22.3 8 103420431G> A null A T 232 232 0.001198 missense 0.031 benign 0.24 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1254085932 8q22.3 8 103420437G> C null V L 234 234 missense 0.192 benign 0.37 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs759281100 8q22.3 8 103420440C> G null L V 235 235 missense 0.78 possibly damaging 0.26 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs955517671 8q22.3 8 103420444C> G null S C 236 236 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs955517671 8q22.3 8 103420444C> T null S F 236 236 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,NCI-TCGA rs201707246 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103420450C> T null A V 238 238 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1367963355 8q22.3 8 103420456A> T null D V 240 240 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs755636177 8q22.3 8 103420459G> C null G A 241 241 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1290017881 8q22.3 8 103420462A> C null E A 242 242 missense 0.502 possibly damaging 0.05 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs753328868 8q22.3 8 103420980A> C null R S 244 244 missense 0.115 benign 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1294159659 8q22.3 8 103420979G> C null R T 244 244 missense 0.218 benign 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs758946959 8q22.3 8 103420988A> C null N T 247 247 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs780424597 8q22.3 8 103420990C> G null L V 248 248 missense 0.594 possibly damaging 0.13 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs920026512 8q22.3 8 103420993A> G null T A 249 249 missense 0.43 benign 0.4 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs752015905 8q22.3 8 103420997A> T null Q L 250 250 missense 0.05 benign 0.11 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs781549097 8q22.3 8 103421000G> A null R Q 251 251 missense 0.058 benign 0.06 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,TOPMed,gnomAD rs755309968 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103420999C> T null R W 251 251 missense 0.923 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1188111947 8q22.3 8 103421003A> G null N S 252 252 missense 0.019 benign 0.2 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs748408774 8q22.3 8 103421005T> C null C R 253 253 missense 0.937 probably damaging 0.2 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs770091405 8q22.3 8 103421010C> G null I M 254 254 missense 0.805 possibly damaging 0.07 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1166949567 8q22.3 8 103421008A> G null I V 254 254 missense 0.022 benign 0.48 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs778048907 8q22.3 8 103421011C> T null R C 255 255 missense 0.998 probably damaging 0.22 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs778048907 8q22.3 8 103421011C> G null R G 255 255 missense 0.996 probably damaging 0.26 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,TOPMed,gnomAD rs372518680 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103421012G> A null R H 255 255 missense 0.997 probably damaging 0.44 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs771058066 8q22.3 8 103421015C> T null T I 256 256 missense 0.837 possibly damaging 0.09 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1246411075 8q22.3 8 103421017A> C null I L 257 257 missense 0.003 benign 0.21 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs745753981 8q22.3 8 103421020C> A null Q K 258 258 missense 0.977 probably damaging 0.3 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs373378051 8q22.3 8 103421021A> T null Q L 258 258 missense 0.985 probably damaging 0.06 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs373378051 8q22.3 8 103421021A> G null Q R 258 258 missense 0.985 probably damaging 0.13 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP rs144660563 8q22.3 8 103421026C> T null H Y 260 260 missense 0.018 benign 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,gnomAD rs183706608 8q22.3 8 103421031A> T null E D 261 261 2.0E-4 missense 0.99 probably damaging 0.25 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs763709416 8q22.3 8 103421033G> C null G A 262 262 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs954159923 8q22.3 8 103421032G> T null G C 262 262 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,gnomAD rs761301834 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 8q22.3 8 103421041C> T null R * 265 265 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,gnomAD rs536797299 8q22.3 8 103421042G> A null R Q 265 265 2.0E-4 missense 0.993 probably damaging 0.06 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1472223517 8q22.3 8 103421045G> T null G V 266 266 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1259078062 8q22.3 8 103421050T> G null C G 268 268 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed rs755468577 8q22.3 8 103421054C> T null T I 269 269 missense 0.732 possibly damaging 0.35 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376638763 8q22.3 8 103421056C> T null R C 270 270 2.0E-4 missense 0.897 possibly damaging 0.05 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374390026 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103421057G> A null R H 270 270 missense 0.023 benign 0.09 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,gnomAD rs199708023 8q22.3 8 103421059T> C null F L 271 271 missense 0.335 benign 0.65 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes rs201585324 8q22.3 8 103421065G> A null G R 273 273 missense 0.248 benign 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs61744470 8q22.3 8 103421072C> T null S F 275 275 missense 0.974 probably damaging 0.29 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs749435725 8q22.3 8 103421077T> C null F L 277 277 missense 0.591 possibly damaging 0.65 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1011747605 8q22.3 8 103421081C> T null T I 278 278 missense 0.974 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs747774061 8q22.3 8 103426057T> C null V A 279 279 missense 0.031 benign 0.18 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1335125791 8q22.3 8 103426060G> C null G A 280 280 missense 0.625 possibly damaging 0.09 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs769462302 8q22.3 8 103426063A> G null D G 281 281 missense 0.755 possibly damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1410292888 8q22.3 8 103426066A> G null D G 282 282 missense 0.864 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs772637995 8q22.3 8 103426069A> C null K T 283 283 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1252528565 8q22.3 8 103426074G> A null V M 285 285 missense 0.877 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs776153682 8q22.3 8 103426083T> G null W G 288 288 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs866897207 8q22.3 8 103426087A> G null K R 289 289 missense 0.018 benign 0.22 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1475695161 8q22.3 8 103426090T> C null M T 290 290 missense 0.27 benign 0.14 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs902490860 8q22.3 8 103426093A> G null D G 291 291 missense 0.018 benign 0.05 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1431515917 8q22.3 8 103426099C> T null P L 293 293 missense 0.462 possibly damaging 0.07 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs764577285 8q22.3 8 103426098C> T null P S 293 293 missense 0.38 benign 0.19 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1371713259 8q22.3 8 103426102G> A null G D 294 294 missense 0.231 benign 0.21 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs185916745 8q22.3 8 103426105A> G null Y C 295 295 0.001797 missense 0.003 benign 0.11 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs185916745 8q22.3 8 103426105A> T null Y F 295 295 0.001797 missense 0.003 benign 0.41 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs765496368 8q22.3 8 103426107G> A null G R 296 296 missense 0.979 probably damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1311821083 8q22.3 8 103426110G> C null D H 297 297 missense 0.324 benign 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1311821083 8q22.3 8 103426110G> A null D N 297 297 missense 0.045 benign 0.16 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs374721908 8q22.3 8 103426113G> A null E K 298 298 missense 0.559 possibly damaging 0.18 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1340762253 8q22.3 8 103426120A> C null E A 300 300 missense 0.43 benign 0.1 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs751526681 8q22.3 8 103426119G> A null E K 300 300 missense 0.62 possibly damaging 0.12 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1216675675 8q22.3 8 103426122C> A null P T 301 301 missense 0.055 benign 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs781010399 8q22.3 8 103426126T> C null L S 302 302 missense 0.616 possibly damaging 0.06 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1017084556 8q22.3 8 103426129A> G null H R 303 303 missense 0.161 benign 0.18 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs747943082 8q22.3 8 103426128C> T null H Y 303 303 missense 0.006 benign 0.06 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1210068101 8q22.3 8 103426134A> G null I V 305 305 missense 0.031 benign 0.13 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,gnomAD rs200175003 8q22.3 8 103426138T> G null L * 306 306 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,gnomAD rs200175003 8q22.3 8 103426138T> C null L S 306 306 missense 0.92 probably damaging 0.06 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1272949135 8q22.3 8 103426144A> G null K R 308 308 missense 0.994 probably damaging 0.09 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1388275583 8q22.3 8 103427097A> T null T S 309 309 missense 0.991 probably damaging 0.43 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1396160432 8q22.3 8 103427100G> C null V L 310 310 missense 0.673 possibly damaging 0.14 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1396160432 8q22.3 8 103427100G> A null V M 310 310 missense 0.968 probably damaging 0.07 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs755950053 8q22.3 8 103427104A> G null Y C 311 311 missense 0.031 benign 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs1563503957 8q22.3 8 103427103T> C null Y H 311 311 missense 0.902 possibly damaging 0.04 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs777363133 8q22.3 8 103427106A> G null T A 312 312 missense 0.991 probably damaging 0.07 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1344089273 8q22.3 8 103427116A> G null D G 315 315 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs748993515 8q22.3 8 103427122A> G null H R 317 317 missense 0.993 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs756947557 8q22.3 8 103427141T> A null F L 323 323 missense 0.6 possibly damaging 0.05 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs756947557 8q22.3 8 103427141T> G null F L 323 323 missense 0.6 possibly damaging 0.05 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs778609059 8q22.3 8 103427154C> G null Q E 328 328 missense 0.382 benign 0.52 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs145609503 8q22.3 8 103427157C> G null Q E 329 329 missense 0.382 benign 0.5 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1373160050 8q22.3 8 103427159A> C null Q H 329 329 missense 0.87 possibly damaging 0.07 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs769347024 8q22.3 8 103427158A> C null Q P 329 329 missense 0.645 possibly damaging 0.12 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs748540892 8q22.3 8 103427161T> C null V A 330 330 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,gnomAD rs568236562 8q22.3 8 103427160G> A null V I 330 330 2.0E-4 missense 0.991 probably damaging 0.33 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148884091 8q22.3 8 103427163G> C null D H 331 331 2.0E-4 missense 0.999 probably damaging 0.15 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs773396420 8q22.3 8 103427164A> T null D V 331 331 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs763209111 8q22.3 8 103427176A> C null E A 335 335 missense 0.994 probably damaging 0.19 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs763209111 8q22.3 8 103427176A> G null E G 335 335 missense 0.996 probably damaging 0.14 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs763209111 8q22.3 8 103427176A> T null E V 335 335 missense 0.997 probably damaging 0.24 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1269885376 8q22.3 8 103427178C> T null Q * 336 336 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1210830995 8q22.3 8 103427182G> C null R T 337 337 missense 0.645 possibly damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1480568442 8q22.3 8 103427189T> A null N K 339 339 missense 0.124 benign 0.4 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,gnomAD rs759596988 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103427195A> G null I M 341 341 missense 0.887 possibly damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1303957114 8q22.3 8 103427193A> G null I V 341 341 missense 0.041 benign 0.29 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs143548999 8q22.3 8 103427197G> T null C F 342 342 missense 0.902 possibly damaging 0.06 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs143548999 8q22.3 8 103427197G> A null C Y 342 342 missense 0.902 possibly damaging 0.05 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1175974439 8q22.3 8 103427199T> G null S A 343 343 missense 0.986 probably damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs763998434 8q22.3 8 103427202A> G null M V 344 344 missense 0.114 benign 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs753548168 8q22.3 8 103427209G> C null W S 346 346 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,TOPMed rs553648361 8q22.3 8 103427211G> A null G R 347 347 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1391763127 8q22.3 8 103427217G> C null D H 349 349 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs914273621 8q22.3 8 103427221G> A null S N 350 350 missense 0.991 probably damaging 0.12 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs539676623 8q22.3 8 103427223A> G null I V 351 351 missense 0.966 probably damaging 0.43 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1396400280 8q22.3 8 103427227G> A null S N 352 352 missense 0.019 benign 0.24 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1369814068 8q22.3 8 103427232G> A null V I 354 354 missense 0.991 probably damaging 0.1 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1306092286 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 8q22.3 8 103427236A> C null K T 355 355 missense 0.997 probably damaging 0.02 deleterious 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1278817898 8q22.3 8 103427238T> C null F L 356 356 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs778698939 8q22.3 8 103427247A> G null I V 359 359 missense 0.006 benign 0.6 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1373712970 8q22.3 8 103430612A> G null T A 361 361 missense 0.242 benign 0.05 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs750999874 8q22.3 8 103430617T> A null F L 362 362 missense 0.11 benign 0.64 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,gnomAD rs756707427 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103430618C> A null L I 363 363 missense 0.149 benign 0.38 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1245914555 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103430633G> A null A T 368 368 missense 0.997 probably damaging 0.1 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1428849144 8q22.3 8 103430637C> G null S C 369 369 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1231265462 8q22.3 8 103430643G> A null R K 371 371 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1278769779 8q22.3 8 103430648A> G null I V 373 373 missense 0.966 probably damaging 0.24 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes rs201771178 8q22.3 8 103430652T> C null V A 374 374 missense 0.991 probably damaging 0.14 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs898405494 8q22.3 8 103430651G> A null V I 374 374 missense 0.991 probably damaging 0.37 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1346558796 8q22.3 8 103430655T> G null L R 375 375 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,gnomAD rs374654375 8q22.3 8 103430661A> G null D G 377 377 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,gnomAD rs746138680 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103430660G> A null D N 377 377 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes rs200980273 8q22.3 8 103430669C> T null Q * 380 380 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs906379696 8q22.3 8 103430673C> G null A G 381 381 missense 0.572 possibly damaging 0.28 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs775707351 8q22.3 8 103430675A> G null T A 382 382 missense 0.991 probably damaging 0.09 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs749835638 8q22.3 8 103430678C> T null P S 383 383 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1002889739 8q22.3 8 103430684A> G null K E 385 385 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs915234538 8q22.3 8 103432659G> T null V F 387 387 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1272377833 8q22.3 8 103432669A> G null D G 390 390 missense 0.24 benign 0.05 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1468705618 8q22.3 8 103432671A> G null M V 391 391 missense 0.183 benign 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1317680154 8q22.3 8 103432678C> G null T R 393 393 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs1563505380 8q22.3 8 103432680A> C null N H 394 394 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs946950356 8q22.3 8 103432684C> T null T I 395 395 missense 0.953 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,TOPMed,gnomAD rs372714335 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103432687T> A null I N 396 396 missense 0.902 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,TOPMed,gnomAD rs372714335 8q22.3 8 103432687T> C null I T 396 396 missense 0.716 possibly damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs999376459 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103432686A> G null I V 396 396 missense 0.153 benign 0.15 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs746228451 8q22.3 8 103432692T> A null W R 398 398 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs772398473 8q22.3 8 103432696A> C null N T 399 399 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs137959121 8q22.3 8 103432699C> T null P L 400 400 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,gnomAD rs768651600 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:416 8q22.3 8 103432701A> G null M V 401 401 missense 0.943 probably damaging 0.01 deleterious 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs776808717 8q22.3 8 103432711T> G null F C 404 404 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs776808717 8q22.3 8 103432711T> C null F S 404 404 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs761894129 8q22.3 8 103432719A> G null T A 407 407 missense 0.991 probably damaging 0.3 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs200340920 8q22.3 8 103432720C> T null T I 407 407 2.0E-4 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1391290973 8q22.3 8 103432725G> A null A T 409 409 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1308177043 8q22.3 8 103432729A> G null N S 410 410 missense 0.991 probably damaging 0.35 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1351785577 8q22.3 8 103432735A> G null D G 412 412 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,gnomAD rs566111711 8q22.3 8 103432741A> T null N I 414 414 2.0E-4 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,gnomAD rs566111711 8q22.3 8 103432741A> C null N T 414 414 2.0E-4 missense 0.91 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1020624562 8q22.3 8 103435631A> G null Y C 416 416 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs748230776 8q22.3 8 103435630T> C null Y H 416 416 missense 0.972 probably damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs769906575 8q22.3 8 103435637T> C null F S 418 418 missense 0.068 benign 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs773293726 8q22.3 8 103435639G> C null D H 419 419 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs1376764377 8q22.3 8 103435644G> A null M I 420 420 missense 0.961 probably damaging 0.24 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1364647691 8q22.3 8 103435642A> G null M V 420 420 missense 0.937 probably damaging 0.08 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,TOPMed,gnomAD rs749180359 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103435645C> T null R C 421 421 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs142463527 8q22.3 8 103435646G> A null R H 421 421 missense 0.039 benign 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs868133848 8q22.3 8 103435648G> A null A T 422 422 missense 0.435 benign 0.37 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1230391514 8q22.3 8 103435657A> G null T A 425 425 missense 0.009 benign 0.35 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs774146109 8q22.3 8 103435660C> G null P A 426 426 missense 0.998 probably damaging 0.66 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,TOPMed rs144632227 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 8q22.3 8 103435668G> C null M I 428 428 missense 0.069 benign 0.4 tolerated 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs767153044 8q22.3 8 103435673A> C null H P 430 430 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs767153044 8q22.3 8 103435673A> G null H R 430 430 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs775039881 8q22.3 8 103435675A> G null M V 431 431 missense 0.003 benign 0.25 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1467276182 8q22.3 8 103435682A> T null H L 433 433 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1384016341 8q22.3 8 103435684G> A null V I 434 434 missense 0.438 benign 0.07 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs927142210 8q22.3 8 103435687T> A null S T 435 435 missense 0.984 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1299516737 8q22.3 8 103435702G> A null V M 440 440 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs750926513 8q22.3 8 103435706A> T null D V 441 441 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,TOPMed rs138536020 8q22.3 8 103435711T> G null S A 443 443 missense 0.028 benign 0.11 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs758893088 8q22.3 8 103435718C> T null T I 445 445 missense 0.79 possibly damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1388532573 8q22.3 8 103435725G> T null K N 447 447 missense 0.585 possibly damaging 0.1 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs1229785925 8q22.3 8 103435732G> T null V L 450 450 missense 0.761 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs766706100 8q22.3 8 103435735T> G null S A 451 451 missense 0.761 possibly damaging 0.19 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs751926148 8q22.3 8 103435738G> C null A P 452 452 missense 0.974 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs751926148 8q22.3 8 103435738G> A null A T 452 452 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141131174 8q22.3 8 103435748A> G null D G 455 455 2.0E-4 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1209794872 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103435747G> A null D N 455 455 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1209794872 8q22.3 8 103435747G> T null D Y 455 455 missense 0.376 benign 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1453180772 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103435756A> G null I V 458 458 missense 0.005 benign 0.47 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,TOPMed,gnomAD rs201949129 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 8q22.3 8 103435759C> T null R * 459 459 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1425272025 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:414,cosmic_study:452 8q22.3 8 103435760G> A null R Q 459 459 missense 0.691 possibly damaging 0.0 deleterious 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150914726 8q22.3 8 103435764C> G null I M 460 460 5.99E-4 missense 0.965 probably damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs753542545 8q22.3 8 103435762A> G null I V 460 460 missense 0.761 possibly damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs770879623 8q22.3 8 103435772T> C null V A 463 463 missense 0.018 benign 0.29 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1362913570 8q22.3 8 103435771G> A null V I 463 463 missense 0.438 benign 0.19 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs774081250 8q22.3 8 103435783C> T null R * 467 467 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs542850604 8q22.3 8 103435784G> A null R Q 467 467 missense 0.024 benign 0.04 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1290407925 8q22.3 8 103440137G> C null E Q 470 470 missense 0.762 possibly damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs757199454 8q22.3 8 103440140G> A null V I 471 471 missense 0.033 benign 0.38 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs374177027 8q22.3 8 103440165A> G null H R 479 479 missense 0.01 benign 1.0 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs779779163 8q22.3 8 103440170A> T null I F 481 481 missense 0.104 benign 1.0 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC rs768327742 8q22.3 8 103440185A> C null T P 486 486 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1183937028 8q22.3 8 103440197A> G null K E 490 490 missense 0.363 benign 0.17 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1448531151 8q22.3 8 103440198A> G null K R 490 490 missense 0.018 benign 0.35 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs776075764 8q22.3 8 103440201A> G null Y C 491 491 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs761369421 8q22.3 8 103440203A> G null I V 492 492 missense 0.35 benign 0.67 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs200528280 8q22.3 8 103440208G> A null M I 493 493 2.0E-4 missense 0.16 benign 0.44 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ExAC,TOPMed,gnomAD rs200528280 8q22.3 8 103440208G> T null M I 493 493 2.0E-4 missense 0.16 benign 0.44 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs774923967 8q22.3 8 103440226G> T null M I 499 499 missense 0.547 possibly damaging 0.12 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs774923967 8q22.3 8 103440226G> A null M I 499 499 missense 0.547 possibly damaging 0.12 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1370069107 8q22.3 8 103440230A> T null I F 501 501 missense 0.907 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs978385936 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:329 8q22.3 8 103440233C> T null R C 502 502 missense 0.054 benign 0.02 deleterious 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs761547809 cosmic curated [Cosmic]: large_intestine cosmic_study:376 8q22.3 8 103440234G> A null R H 502 502 missense 0.955 probably damaging 0.0 deleterious 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1309912889 8q22.3 8 103440237T> C null L P 503 503 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1419065893 8q22.3 8 103440240G> A null W * 504 504 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1378545665 8q22.3 8 103440255C> T null S F 509 509 missense 0.949 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1411281601 8q22.3 8 103440264T> C null L S 512 512 missense 0.959 probably damaging 0.18 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs753088008 8q22.3 8 103440267G> T null G V 513 513 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs375018347 8q22.3 8 103441464C> T null R * 518 518 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs764300108 8q22.3 8 103441465G> A null R Q 518 518 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1206523817 8q22.3 8 103441473G> T null A S 521 521 missense 0.031 benign 0.16 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs765410014 8q22.3 8 103441479A> G null K E 523 523 missense 0.05 benign 0.23 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs924457710 8q22.3 8 103441482G> C null D H 524 524 missense 0.851 possibly damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,TOPMed,gnomAD rs373812134 8q22.3 8 103441486A> G null Y C 525 525 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs1057329310 8q22.3 8 103441500A> T null K * 530 530 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs895886402 8q22.3 8 103441502G> C null K N 530 530 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1427586995 8q22.3 8 103441505G> T null E D 531 531 missense 0.869 possibly damaging 0.13 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs377242970 8q22.3 8 103441507A> C null K T 532 532 missense 0.518 possibly damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs917905128 8q22.3 8 103441510T> G null F C 533 533 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs758400351 8q22.3 8 103441511T> G null F L 533 533 missense 0.779 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1455811003 8q22.3 8 103441509T> C null F L 533 533 missense 0.779 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs766294351 8q22.3 8 103441519A> T null Y F 536 536 missense 0.036 benign 0.6 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1437910394 8q22.3 8 103441522C> T null P L 537 537 missense 0.056 benign 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs754803356 8q22.3 8 103441525A> G null H R 538 538 missense 0.112 benign 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs888457873 8q22.3 8 103441528T> C null I T 539 539 missense 0.386 benign 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1476405602 8q22.3 8 103441527A> G null I V 539 539 missense 0.01 benign 0.52 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs560959426 8q22.3 8 103441533C> T null R C 541 541 missense 0.026 benign 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs147296877 8q22.3 8 103441534G> A null R H 541 541 missense 0.882 possibly damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs755698556 8q22.3 8 103441537T> C null I T 542 542 missense 0.829 possibly damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,TOPMed,gnomAD rs777465353 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103441542C> T null R C 544 544 missense 0.015 benign 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs759718195 8q22.3 8 103441543G> A null R H 544 544 missense 0.015 benign 0.04 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs759718195 8q22.3 8 103441543G> C null R P 544 544 missense 0.831 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1466033297 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 8q22.3 8 103441548C> T null R * 546 546 stop gained 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1431199702 8q22.3 8 103441549G> A null R Q 546 546 missense 0.951 probably damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs770508219 8q22.3 8 103441552A> G null H R 547 547 missense 0.882 possibly damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs747433025 8q22.3 8 103441568C> G null I M 552 552 missense 0.685 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs369578505 8q22.3 8 103441566A> G null I V 552 552 missense 0.151 benign 0.35 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,gnomAD rs144723655 8q22.3 8 103441570A> G null Y C 553 553 missense 0.979 probably damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs776835973 8q22.3 8 103441569T> C null Y H 553 553 missense 0.972 probably damaging 0.22 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,TOPMed rs374265201 8q22.3 8 103441573G> A null S N 554 554 missense 0.462 possibly damaging 0.35 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs887288006 8q22.3 8 103441579T> G null I S 556 556 missense 0.996 probably damaging 0.82 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs887288006 8q22.3 8 103441579T> C null I T 556 556 missense 0.993 probably damaging 0.67 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,TOPMed,gnomAD rs765438024 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103441581C> G null Q E 557 557 missense 0.16 benign 0.48 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs763038882 8q22.3 8 103441590C> T null R C 560 560 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs763038882 8q22.3 8 103441590C> G null R G 560 560 missense 0.737 possibly damaging 0.04 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,TOPMed,gnomAD rs766382243 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103441591G> A null R H 560 560 missense 0.885 possibly damaging 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs751532727 8q22.3 8 103441597T> C null M T 562 562 missense 0.384 benign 0.06 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs765503657 8q22.3 8 103441602G> A null E K 564 564 missense 0.287 benign 0.21 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs202190823 8q22.3 8 103441606C> A null A D 565 565 missense 0.715 possibly damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs202190823 8q22.3 8 103441606C> T null A V 565 565 missense 0.521 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs1954 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103441608C> T null R C 566 566 2.0E-4 missense 0.989 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl,NCI-TCGA rs754852689 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103441609G> A null R H 566 566 missense 0.975 probably damaging 0.05 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs752405404 8q22.3 8 103441612G> A null R Q 567 567 missense 0.043 benign 0.09 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139907413 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:375 8q22.3 8 103441615G> A null R Q 568 568 missense 0.561 possibly damaging 0.02 deleterious 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs760550577 8q22.3 8 103442799G> A null V M 571 571 missense 0.018 benign 0.1 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,TOPMed,gnomAD rs763941283 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8q22.3 8 103442805C> T null R C 573 573 missense 0.031 benign 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,NCI-TCGA,gnomAD rs756945539 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 8q22.3 8 103442806G> A null R H 573 573 missense 0.923 probably damaging 0.02 deleterious 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs756945539 8q22.3 8 103442806G> T null R L 573 573 missense 0.533 possibly damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs763941283 8q22.3 8 103442805C> A null R S 573 573 missense 0.688 possibly damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1488415983 8q22.3 8 103442811A> C null K Q 575 575 missense 0.997 probably damaging 0.05 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs755563560 8q22.3 8 103442817A> T null S C 577 577 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC rs748625915 8q22.3 8 103442826G> A null G R 580 580 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs770179674 8q22.3 8 103442827G> T null G V 580 580 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ESP,ExAC,TOPMed,gnomAD rs371185840 8q22.3 8 103442829T> A null S T 581 581 missense 0.984 probably damaging 0.19 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs749564756 8q22.3 8 103442833T> C null V A 582 582 missense 0.594 possibly damaging 0.07 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs774558109 8q22.3 8 103442851A> T null K M 588 588 missense 0.891 possibly damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs759522627 8q22.3 8 103442852G> T null K N 588 588 missense 0.461 possibly damaging 0.01 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed,gnomAD rs894317169 8q22.3 8 103442857A> G null K R 590 590 missense 0.991 probably damaging 0.11 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 TOPMed rs1468499833 8q22.3 8 103442860A> G null H R 591 591 missense 0.99 probably damaging 0.22 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144319160 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 8q22.3 8 103442862G> A null V I 592 592 9.98E-4 missense 0.0 benign 0.53 tolerated 1 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 Ensembl rs1563508181 8q22.3 8 103442866T> C null V A 593 593 missense 0.359 benign 0.03 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs760640368 8q22.3 8 103442868G> C null A P 594 594 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,TOPMed,gnomAD rs760640368 8q22.3 8 103442868G> A null A T 594 594 missense 0.701 possibly damaging 0.1 tolerated 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 ExAC,gnomAD rs76530805 8q22.3 8 103442872T> G null V G 595 595 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WT20 DCAF13 DDB1- and CUL4-associated factor 13 gnomAD rs1255573541 8q22.3 8 103442871G> A null V I 595 595 missense 0.987 probably damaging 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs200549613 22q11.21 22 17477103C> G null P A 2 2 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs145359829 22q11.21 22 17477109A> C null K Q 4 4 5.99E-4 missense 0.003 benign 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs755884413 22q11.21 22 17477110A> C null K T 4 4 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1325416201 22q11.21 22 17477115C> T null Q * 6 6 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1397577365 22q11.21 22 17477116A> G null Q R 6 6 missense 0.0 benign 0.35 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1294800512 22q11.21 22 17477119G> T null W L 7 7 missense 0.0 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1355663059 22q11.21 22 17477123C> G null F L 8 8 missense 0.011 benign 0.58 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs749183006 22q11.21 22 17477134T> C null V A 12 12 missense 0.001 benign 0.21 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs754450197 22q11.21 22 17477137C> T null A V 13 13 missense 0.0 benign 0.17 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1218774091 22q11.21 22 17477140A> G null D G 14 14 missense 0.0 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1284162988 22q11.21 22 17477139G> C null D H 14 14 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs778450271 22q11.21 22 17477142G> A null G S 15 15 missense 0.0 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs868855555 22q11.21 22 17477149C> A null S Y 17 17 missense 0.001 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs772489977 22q11.21 22 17477152T> C null L P 18 18 missense 0.003 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1185622464 22q11.21 22 17477155A> G null E G 19 19 missense 0.0 benign 0.38 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1366504025 22q11.21 22 17477159G> C null K N 20 20 missense 0.0 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs766096565 22q11.21 22 17477590G> T null E D 21 21 missense 0.978 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs754934325 22q11.21 22 17477600G> A null A T 25 25 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs778366296 22q11.21 22 17477606C> A null H N 27 27 missense 0.388 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1391566594 22q11.21 22 17477609A> G null R G 28 28 missense 0.196 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1331121402 22q11.21 22 17477616A> T null D V 30 30 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs377154507 22q11.21 22 17477618G> A null V M 31 31 missense 0.475 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1237152097 22q11.21 22 17477621G> C null E Q 32 32 missense 0.368 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs757929527 22q11.21 22 17477627A> T null I F 34 34 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs777368572 22q11.21 22 17477628T> C null I T 34 34 missense 0.866 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs996600751 22q11.21 22 17477646G> A null C Y 40 40 missense 0.656 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs771270218 22q11.21 22 17477669C> G null R G 48 48 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs781468489 22q11.21 22 17477670G> A null R Q 48 48 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,NCI-TCGA,TOPMed rs372513605 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17477673G> A null R K 49 49 missense 0.052 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1317485057 22q11.21 22 17477675G> T null D Y 50 50 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs770471342 22q11.21 22 17477679T> C null I T 51 51 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs965434338 22q11.21 22 17497405C> T null P L 53 53 missense 0.009 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1166144825 22q11.21 22 17497408A> G null Q R 54 54 missense 0.88 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1349613395 22q11.21 22 17497419A> G null S G 58 58 missense 0.01 benign 0.26 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1237244440 22q11.21 22 17497434A> G null I V 63 63 missense 0.952 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1349351366 22q11.21 22 17497438T> C null I T 64 64 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs768839952 22q11.21 22 17497441A> G null N S 65 65 missense 0.219 benign 0.16 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs774359092 22q11.21 22 17497446C> T null R C 67 67 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs748368295 22q11.21 22 17497447G> A null R H 67 67 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1313171620 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17497458G> A null E K 71 71 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1219369780 22q11.21 22 17497468A> G null K R 74 74 missense 0.985 probably damaging 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs765025297 22q11.21 22 17497471C> T null P L 75 75 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs759290476 22q11.21 22 17497470C> T null P S 75 75 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1016326737 22q11.21 22 17497474A> C null N T 76 76 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs763591044 22q11.21 22 17497483G> A null R K 79 79 missense 0.219 benign 0.25 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs921431915 22q11.21 22 17497488G> A null A T 81 81 missense 0.007 benign 0.22 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs577083118 22q11.21 22 17497492G> C null S T 82 82 2.0E-4 missense 0.005 benign 0.37 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1051316815 22q11.21 22 17497499G> C null Q H 84 84 missense 0.201 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs756812082 22q11.21 22 17497501A> C null D A 85 85 missense 0.039 benign 0.26 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1161976113 22q11.21 22 17497502C> A null D E 85 85 missense 0.001 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed rs374467554 22q11.21 22 17497509C> G null L V 88 88 missense 0.874 possibly damaging 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1042373950 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17497519G> A null R Q 91 91 missense 0.334 benign 0.23 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569121563 22q11.21 22 17497518C> T null R W 91 91 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1378250296 22q11.21 22 17497533C> T null H Y 96 96 missense 0.986 probably damaging 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1000953634 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.21 22 17497536C> T null R * 97 97 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs755579495 22q11.21 22 17497537G> A null R Q 97 97 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1284310519 22q11.21 22 17497539C> T null L F 98 98 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs781664783 22q11.21 22 17497545G> A null D N 100 100 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1353807354 22q11.21 22 17497563G> A null D N 106 106 missense 0.963 probably damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs894947020 22q11.21 22 17497570T> C null V A 108 108 missense 0.978 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs774829517 22q11.21 22 17497574C> A null F L 109 109 missense 0.97 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs773244829 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17497575G> A null D N 110 110 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1482503334 22q11.21 22 17497578C> A null L I 111 111 missense 0.918 probably damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs747245984 22q11.21 22 17497586G> C null K N 113 113 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1437045492 22q11.21 22 17499416G> C null D H 116 116 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1364787975 22q11.21 22 17499434G> A null V M 122 122 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1197109880 22q11.21 22 17499454C> A null D E 128 128 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs760380592 22q11.21 22 17499456A> G null N S 129 129 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs549635868 22q11.21 22 17499467C> G null L V 133 133 2.0E-4 missense 0.991 probably damaging 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1423142531 22q11.21 22 17499483A> G null Y C 138 138 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs759014846 22q11.21 22 17499494A> G null M V 142 142 missense 0.462 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs777687239 22q11.21 22 17499503G> A null E K 145 145 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs751690552 22q11.21 22 17499506G> C null D H 146 146 missense 0.808 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs751690552 22q11.21 22 17499506G> A null D N 146 146 missense 0.477 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367590870 22q11.21 22 17499510C> T null P L 147 147 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1386085964 22q11.21 22 17499525C> G null S C 152 152 missense 0.628 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs746099602 22q11.21 22 17499528A> G null N S 153 153 missense 0.027 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1339482385 22q11.21 22 17499535A> T null E D 155 155 missense 0.637 possibly damaging 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs768318389 22q11.21 22 17499539T> C null S P 157 157 missense 0.003 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1295515953 22q11.21 22 17499540C> A null S Y 157 157 missense 0.0 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs757267172 22q11.21 22 17500637T> G null S R 162 162 missense 0.23 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs767637751 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17500639A> G null E G 163 163 missense 0.0 benign 0.3 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs182513499 22q11.21 22 17500641G> A null G R 164 164 2.0E-4 missense 0.012 benign 0.16 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs756398277 22q11.21 22 17500645A> G null Q R 165 165 missense 0.911 probably damaging 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1159109323 22q11.21 22 17500648A> C null K T 166 166 missense 0.005 benign 0.33 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs758750721 22q11.21 22 17500652T> G null N K 167 167 missense 0.006 benign 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs758750721 22q11.21 22 17500652T> A null N K 167 167 missense 0.006 benign 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1379225692 22q11.21 22 17500653G> A null V I 168 168 missense 0.054 benign 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs778549084 22q11.21 22 17500656T> G null S A 169 169 missense 0.112 benign 0.2 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs535152863 22q11.21 22 17500659A> G null S G 170 170 5.99E-4 missense 0.0 benign 0.36 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs980054014 22q11.21 22 17500673A> C null K N 174 174 missense 0.838 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs199868742 22q11.21 22 17500675C> A null T K 175 175 missense 0.444 benign 0.16 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs199868742 22q11.21 22 17500675C> T null T M 175 175 missense 0.606 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs865781120 22q11.21 22 17500677G> A null G R 176 176 missense 0.855 possibly damaging 0.23 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs918376132 22q11.21 22 17500684G> A null R K 178 178 missense 0.13 benign 0.38 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1448250397 22q11.21 22 17500687G> A null R K 179 179 missense 0.97 probably damaging 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1358418411 22q11.21 22 17500692A> G null R G 181 181 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1351658733 22q11.21 22 17500698C> T null P S 183 183 missense 0.996 probably damaging 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1256627770 22q11.21 22 17500705G> A null R Q 185 185 missense 0.846 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs776351510 22q11.21 22 17500704C> T null R W 185 185 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1253706004 22q11.21 22 17500716C> A null Q K 189 189 missense 0.138 benign 0.29 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1202136738 22q11.21 22 17500717A> T null Q L 189 189 missense 0.0 benign 0.42 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1202136738 22q11.21 22 17500717A> G null Q R 189 189 missense 0.196 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs889925794 22q11.21 22 17503087A> G null K R 197 197 missense 0.866 possibly damaging 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1294632473 22q11.21 22 17503090A> G null Q R 198 198 missense 0.099 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs766581793 22q11.21 22 17503092G> A null E K 199 199 missense 0.156 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs754013306 22q11.21 22 17503095G> A null E K 200 200 missense 0.001 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC rs758211976 22q11.21 22 17503099A> T null N I 201 201 missense 0.054 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1008416986 22q11.21 22 17503104T> G null L V 203 203 missense 0.026 benign 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs746939089 22q11.21 22 17503105T> G null L W 203 203 missense 0.43 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs780831049 22q11.21 22 17503110T> G null S A 205 205 missense 0.001 benign 0.22 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs769221545 22q11.21 22 17503111C> G null S C 205 205 missense 0.43 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs769221545 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17503111C> T null S F 205 205 missense 0.271 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs780831049 22q11.21 22 17503110T> C null S P 205 205 missense 0.184 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs567172261 22q11.21 22 17503113G> A null E K 206 206 missense 0.085 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1477953039 22q11.21 22 17503123C> G null T R 209 209 missense 0.054 benign 0.21 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs762285421 22q11.21 22 17503129A> G null H R 211 211 missense 0.001 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1192402608 22q11.21 22 17503128C> T null H Y 211 211 missense 0.0 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs761636519 22q11.21 22 17504847G> A null G E 212 212 missense 0.922 probably damaging 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs761636519 22q11.21 22 17504847G> T null G V 212 212 missense 0.829 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs767271030 22q11.21 22 17504850C> T null S F 213 213 missense 0.272 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1353859755 22q11.21 22 17504849T> C null S P 213 213 missense 0.317 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,gnomAD rs372722720 22q11.21 22 17504853A> C null Q P 214 214 missense 0.009 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,gnomAD rs372722720 22q11.21 22 17504853A> G null Q R 214 214 missense 0.001 benign 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1410111419 22q11.21 22 17504856G> A null G E 215 215 missense 0.532 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs779589916 22q11.21 22 17504858C> G null P A 216 216 missense 0.874 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs753295694 22q11.21 22 17504864C> G null Q E 218 218 missense 0.014 benign 0.21 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs754513973 22q11.21 22 17504865A> T null Q L 218 218 missense 0.115 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs754513973 22q11.21 22 17504865A> G null Q R 218 218 missense 0.003 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1181108534 22q11.21 22 17504867G> C null G R 219 219 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs747810331 22q11.21 22 17504878G> T null W C 222 222 missense 0.956 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs747810331 22q11.21 22 17504878G> C null W C 222 222 missense 0.956 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs778468695 22q11.21 22 17504877G> T null W L 222 222 missense 0.866 possibly damaging 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP rs375736912 22q11.21 22 17504876T> A null W R 222 222 missense 0.941 probably damaging 0.31 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs778066537 22q11.21 22 17504882C> G null L V 224 224 missense 0.219 benign 0.48 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1176824530 22q11.21 22 17504889A> C null Q P 226 226 missense 0.895 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs368864314 22q11.21 22 17504894G> C null E Q 228 228 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs759650831 22q11.21 22 17504897G> A null E K 229 229 missense 0.368 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1445894804 22q11.21 22 17504902A> T null E D 230 230 missense 0.88 possibly damaging 0.17 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs970151944 22q11.21 22 17504909C> G null Q E 233 233 missense 0.006 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1017877730 22q11.21 22 17504910A> G null Q R 233 233 missense 0.0 benign 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs965349400 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17504912G> A null V I 234 234 missense 0.69 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs980156729 22q11.21 22 17504915A> G null T A 235 235 missense 0.311 benign 0.29 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377480686 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17504918G> A null E K 236 236 missense 0.923 probably damaging 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs370937054 22q11.21 22 17504922G> A null S N 237 237 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs923281762 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17504927C> T null R C 239 239 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs760539949 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17504928G> A null R H 239 239 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs753778123 22q11.21 22 17504930G> A null E K 240 240 missense 0.881 possibly damaging 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs960200515 22q11.21 22 17504936A> G null T A 242 242 missense 0.755 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1401954936 22q11.21 22 17504937C> T null T I 242 242 missense 0.32 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs960200515 22q11.21 22 17504936A> T null T S 242 242 missense 0.874 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs754426948 22q11.21 22 17504943T> G null L R 244 244 missense 0.559 possibly damaging 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs201912432 22q11.21 22 17504946G> A null R Q 245 245 missense 0.211 benign 0.24 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs758026753 22q11.21 22 17504952G> A null R Q 247 247 missense 0.992 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569127896 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17504951C> T null R W 247 247 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs778177563 22q11.21 22 17504961A> G null Y C 250 250 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs778177563 22q11.21 22 17504961A> C null Y S 250 250 missense 0.24 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1326749458 22q11.21 22 17504967T> C null L P 252 252 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs914379185 22q11.21 22 17504973G> A null S N 254 254 missense 0.906 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1436530113 22q11.21 22 17504987C> T null P S 259 259 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1343279802 22q11.21 22 17504997G> A null C Y 262 262 missense 0.953 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1279236600 22q11.21 22 17505002A> G null M V 264 264 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs781738400 22q11.21 22 17505007C> G null I M 265 265 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs769986240 22q11.21 22 17505008G> A null A T 266 266 missense 0.875 possibly damaging 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs775749314 22q11.21 22 17505009C> T null A V 266 266 missense 0.906 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1186079753 22q11.21 22 17505015A> T null K M 268 268 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs749500004 22q11.21 22 17505016G> C null K N 268 268 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs5747211 22q11.21 22 17511820G> A null R H 271 271 0.2039 missense 0.908 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs759447732 22q11.21 22 17511823C> G null P R 272 272 missense 0.021 benign 0.48 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372166419 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17511828C> T null R C 274 274 missense 0.451 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs372166419 22q11.21 22 17511828C> G null R G 274 274 missense 0.07 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149739505 22q11.21 22 17511829G> A null R H 274 274 5.99E-4 missense 0.017 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149739505 22q11.21 22 17511829G> T null R L 274 274 5.99E-4 missense 0.07 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs940161101 22q11.21 22 17511831A> T null T S 275 275 missense 0.0 benign 0.25 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs972881063 22q11.21 22 17511834A> G null K E 276 276 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1412834508 22q11.21 22 17511840G> T null E * 278 278 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61745636 22q11.21 22 17511843T> G null L V 279 279 0.01937 missense 0.026 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1236671379 22q11.21 22 17511844T> G null L W 279 279 missense 0.338 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs750763487 22q11.21 22 17511846C> A null H N 280 280 missense 0.0 benign 0.38 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,NCI-TCGA,gnomAD rs374911807 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17511850C> T null P L 281 281 missense 0.082 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1012421246 22q11.21 22 17511858A> T null M L 284 284 missense 0.0 benign 0.25 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1442772922 22q11.21 22 17511867C> T null H Y 287 287 missense 0.003 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs748289376 22q11.21 22 17511883C> T null P L 292 292 missense 0.01 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs779115433 22q11.21 22 17511882C> T null P S 292 292 missense 0.0 benign 0.66 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs745626121 22q11.21 22 17511886T> G null V G 293 293 missense 0.034 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs777993980 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17511885G> A null V I 293 293 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs372506978 22q11.21 22 17511888A> C null K Q 294 294 missense 0.107 benign 0.47 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs775235194 22q11.21 22 17511889A> C null K T 294 294 missense 0.081 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1335090360 22q11.21 22 17511894G> A null E K 296 296 missense 0.058 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs377543712 22q11.21 22 17524120G> C null E D 297 297 missense 0.058 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs771720298 22q11.21 22 17524118G> A null E K 297 297 missense 0.058 benign 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1196831983 22q11.21 22 17524124C> T null P S 299 299 missense 0.039 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1426305860 22q11.21 22 17524133A> G null T A 302 302 missense 0.003 benign 0.19 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs964732053 22q11.21 22 17524139A> G null I V 304 304 missense 0.0 benign 0.27 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs766620277 22q11.21 22 17524143A> T null E V 305 305 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs777102530 22q11.21 22 17524145A> G null K E 306 306 missense 0.219 benign 0.16 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370462260 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17524154C> T null R C 309 309 missense 0.95 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138101258 22q11.21 22 17524155G> A null R H 309 309 2.0E-4 missense 0.866 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138101258 22q11.21 22 17524155G> T null R L 309 309 2.0E-4 missense 0.765 possibly damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs753210062 22q11.21 22 17524157A> G null K E 310 310 missense 0.039 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs758418427 22q11.21 22 17524158A> G null K R 310 310 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs751780457 22q11.21 22 17524162G> C null E D 311 311 missense 0.311 benign 0.27 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs764220976 22q11.21 22 17524160G> C null E Q 311 311 missense 0.963 probably damaging 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs923483211 22q11.21 22 17524169G> C null E Q 314 314 missense 0.972 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1294520932 22q11.21 22 17524173A> G null E G 315 315 missense 0.963 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1305703130 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17524175C> T null R C 316 316 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1246812923 22q11.21 22 17524176G> A null R H 316 316 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,gnomAD rs367584284 22q11.21 22 17524182T> A null I N 318 318 missense 0.564 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs749069125 22q11.21 22 17524187C> G null L V 320 320 missense 0.133 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1264839086 22q11.21 22 17524198G> C null Q H 323 323 missense 0.993 probably damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs754730786 22q11.21 22 17524202A> G null K E 325 325 missense 0.339 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1186322214 22q11.21 22 17524205G> A null E K 326 326 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1260016477 22q11.21 22 17524208C> G null Q E 327 327 missense 0.13 benign 0.16 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs924189810 22q11.21 22 17524210G> C null Q H 327 327 missense 0.928 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs778851814 22q11.21 22 17524209A> C null Q P 327 327 missense 0.895 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs778851814 22q11.21 22 17524209A> G null Q R 327 327 missense 0.838 possibly damaging 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs748152983 22q11.21 22 17524219G> C null M I 330 330 missense 0.038 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs868822830 22q11.21 22 17524218T> C null M T 330 330 missense 0.071 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs771704119 22q11.21 22 17524220C> G null L V 331 331 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs770569105 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17524238C> T null R C 337 337 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs573791910 22q11.21 22 17524239G> A null R H 337 337 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs536063005 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 22q11.21 22 17524241G> A null E K 338 338 missense 0.881 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs775966102 22q11.21 22 17524242A> T null E V 338 338 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1243180877 22q11.21 22 17524245T> G null L W 339 339 missense 0.635 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1214550759 22q11.21 22 17524257T> C null V A 343 343 missense 0.918 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1259414454 22q11.21 22 17524265G> A null V M 346 346 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs757310038 22q11.21 22 17524269A> G null E G 347 347 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1205934176 22q11.21 22 17537104T> G null D E 348 348 missense 0.003 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs755330116 22q11.21 22 17537106G> C null R P 349 349 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs755330116 22q11.21 22 17537106G> A null R Q 349 349 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs748666454 22q11.21 22 17537109C> G null A G 350 350 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1213605092 22q11.21 22 17537108G> A null A T 350 350 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs748666454 22q11.21 22 17537109C> T null A V 350 350 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1307309795 22q11.21 22 17537118G> C null R T 353 353 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs369723376 22q11.21 22 17537121A> G null K R 354 354 missense 0.026 benign 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs912028917 22q11.21 22 17537136G> T null R M 359 359 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs759906727 22q11.21 22 17537138G> T null A S 360 360 missense 0.994 probably damaging 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs759906727 22q11.21 22 17537138G> A null A T 360 360 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1413497823 22q11.21 22 17537143G> C null W C 361 361 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,gnomAD rs377610344 22q11.21 22 17537141T> C null W R 361 361 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1425420334 22q11.21 22 17537144C> A null L M 362 362 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs988772012 22q11.21 22 17537148T> A null L Q 363 363 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs868448604 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17537157G> A null G E 366 366 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs868751329 22q11.21 22 17537174G> T null E * 372 372 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1452480243 22q11.21 22 17537175A> G null E G 372 372 missense 0.598 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs767287382 22q11.21 22 17537180T> C null S P 374 374 missense 0.462 possibly damaging 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1379185960 22q11.21 22 17537181C> A null S Y 374 374 missense 0.656 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs765937949 22q11.21 22 17537187T> C null L P 376 376 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1250310966 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17537195A> G null N D 379 379 missense 0.003 benign 0.2 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs754672917 22q11.21 22 17537196A> G null N S 379 379 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1461715815 22q11.21 22 17537198T> G null S A 380 380 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1483425368 22q11.21 22 17537201C> G null P A 381 381 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1234614971 22q11.21 22 17537202C> T null P L 381 381 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1439022266 22q11.21 22 17537206G> A null M I 382 382 missense 0.003 benign 0.66 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1240790758 22q11.21 22 17537205T> A null M K 382 382 missense 0.01 benign 0.18 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs748420479 22q11.21 22 17537204A> C null M L 382 382 missense 0.0 benign 0.35 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1182131223 22q11.21 22 17537208G> A null R K 383 383 missense 0.543 possibly damaging 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1044701561 22q11.21 22 17537209A> C null R S 383 383 missense 0.728 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1362897635 22q11.21 22 17537210G> A null E K 384 384 missense 0.115 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs758794753 22q11.21 22 17537214A> G null E G 385 385 missense 0.0 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,gnomAD rs778084870 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17537220A> G null K R 387 387 missense 0.001 benign 0.79 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1469787166 22q11.21 22 17537223C> G null T S 388 388 missense 0.122 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC rs747578630 22q11.21 22 17537231C> T null L F 391 391 missense 0.003 benign 0.35 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs758678613 22q11.21 22 17538525A> T null E V 393 393 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs778269475 22q11.21 22 17538534A> C null D A 396 396 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs778269475 22q11.21 22 17538534A> G null D G 396 396 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs752084298 22q11.21 22 17538536G> C null D H 397 397 missense 0.08 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs567987744 22q11.21 22 17538542A> G null T A 399 399 missense 0.771 possibly damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs745907542 22q11.21 22 17538545G> T null A S 400 400 missense 0.914 probably damaging 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1407056543 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17538550G> A null M I 401 401 missense 0.882 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1198514409 22q11.21 22 17538552A> G null Y C 402 402 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs756140915 22q11.21 22 17538649T> C null V A 407 407 missense 0.353 benign 0.53 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs751021833 22q11.21 22 17538648G> A null V M 407 407 missense 0.957 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs749447312 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17538651G> A null V I 408 408 missense 0.329 benign 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs749447312 22q11.21 22 17538651G> T null V L 408 408 missense 0.202 benign 0.32 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1315065505 22q11.21 22 17538656G> C null K N 409 409 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1458493953 22q11.21 22 17538657G> C null A P 410 410 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1165122149 22q11.21 22 17538658C> T null A V 410 410 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs779135758 22q11.21 22 17538687C> G null P A 420 420 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs951271508 22q11.21 22 17538693G> A null D N 422 422 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192647734 22q11.21 22 17538713C> G null N K 428 428 2.0E-4 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs984079763 22q11.21 22 17538712A> G null N S 428 428 missense 0.757 possibly damaging 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1384616850 22q11.21 22 17538722G> T null Q H 431 431 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1443085744 22q11.21 22 17538725T> G null I M 432 432 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1299339757 22q11.21 22 17539001G> A null M I 437 437 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs781006457 22q11.21 22 17538999A> G null M V 437 437 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1246509787 22q11.21 22 17539011A> G null S G 441 441 missense 0.121 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs933732047 22q11.21 22 17539014A> G null M V 442 442 missense 0.329 benign 0.17 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs745773635 22q11.21 22 17539023A> G null K E 445 445 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs769725088 22q11.21 22 17539030A> G null N S 447 447 missense 0.591 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs768298929 22q11.21 22 17539036G> A null G D 449 449 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs748769002 22q11.21 22 17539035G> A null G S 449 449 missense 0.996 probably damaging 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs768298929 22q11.21 22 17539036G> T null G V 449 449 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs774139283 22q11.21 22 17539042A> G null Y C 451 451 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1206729717 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 22q11.21 22 17539045G> A null C Y 452 452 missense 0.015 benign 0.3 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1233460933 22q11.21 22 17539047A> G null T A 453 453 missense 0.019 benign 0.16 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1480467022 22q11.21 22 17539059T> A null F I 457 457 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1480467022 22q11.21 22 17539059T> C null F L 457 457 missense 0.966 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1180269671 22q11.21 22 17539062G> A null V I 458 458 missense 0.106 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1453580947 22q11.21 22 17539068G> A null D N 460 460 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1481277764 22q11.21 22 17539073G> A null M I 461 461 missense 0.315 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1249409874 22q11.21 22 17539071A> G null M V 461 461 missense 0.127 benign 0.2 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs371376833 22q11.21 22 17539078C> T null T I 463 463 missense 0.205 benign 0.5 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs371376833 22q11.21 22 17539078C> G null T S 463 463 missense 0.76 possibly damaging 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1271121594 22q11.21 22 17539077A> T null T S 463 463 missense 0.76 possibly damaging 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1428545031 22q11.21 22 17539082G> T null M I 464 464 missense 0.022 benign 0.29 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1339788253 22q11.21 22 17539095C> T null R * 469 469 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs773574847 22q11.21 22 17539096G> A null R Q 469 469 missense 0.168 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs267606173 22q11.21 22 17539107G> A null G R 473 473 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs369929274 22q11.21 22 17539114G> A null S N 475 475 missense 0.001 benign 0.54 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1461226139 22q11.21 22 17539117G> A null S N 476 476 missense 0.793 possibly damaging 0.18 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs899907881 22q11.21 22 17540413G> T null E D 477 477 missense 0.984 probably damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1474378338 22q11.21 22 17540415A> G null Y C 478 478 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs146626965 22q11.21 22 17540417A> T null T S 479 479 2.0E-4 missense 0.947 probably damaging 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs761052719 22q11.21 22 17540420A> C null K Q 480 480 missense 0.675 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1317166259 22q11.21 22 17540429G> A null D N 483 483 missense 0.166 benign 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1489095977 22q11.21 22 17540432A> C null N H 484 484 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1360452688 22q11.21 22 17540442G> A null R K 487 487 missense 0.902 possibly damaging 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs767167862 22q11.21 22 17540444T> G null C G 488 488 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs767167862 22q11.21 22 17540444T> C null C R 488 488 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs765286729 22q11.21 22 17540451A> T null H L 490 490 missense 0.398 benign 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs765286729 22q11.21 22 17540451A> G null H R 490 490 missense 0.073 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,gnomAD rs763022716 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17540453C> T null R W 491 491 missense 0.989 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs764334368 22q11.21 22 17540459A> G null M V 493 493 missense 0.266 benign 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1024456558 22q11.21 22 17540464G> T null M I 494 494 missense 0.014 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs752204763 22q11.21 22 17540463T> A null M K 494 494 missense 0.001 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1186141958 22q11.21 22 17540471T> C null F L 497 497 missense 0.16 benign 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1386547944 22q11.21 22 17540475C> A null P H 498 498 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1162249629 22q11.21 22 17540482A> T null E D 500 500 missense 0.007 benign 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1444937391 22q11.21 22 17540480G> A null E K 500 500 missense 0.185 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs755911186 22q11.21 22 17540505T> C null F S 508 508 missense 0.272 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs971999536 22q11.21 22 17540509G> C null W C 509 509 missense 0.981 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1319345987 22q11.21 22 17540514G> A null R Q 511 511 missense 0.123 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs779784806 22q11.21 22 17540521T> G null D E 513 513 missense 0.017 benign 0.2 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1171304462 22q11.21 22 17540524A> T null E D 514 514 missense 0.03 benign 0.19 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs753803451 22q11.21 22 17540529G> A null R Q 516 516 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs982960939 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17540528C> T null R W 516 516 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1338847306 22q11.21 22 17540538G> A null R K 519 519 missense 0.158 benign 0.18 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1245571259 22q11.21 22 17540541G> A null R Q 520 520 missense 0.089 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 NCI-TCGA,gnomAD rs768986689 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17540540C> T null R W 520 520 missense 0.798 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs386819564 22q11.21 22 17540545_17540546delinsC G null R G 522 522 missense 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs754907211 22q11.21 22 17540547G> T null R L 522 522 missense 0.906 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs754907211 22q11.21 22 17540547G> A null R Q 522 522 missense 0.901 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1015830181 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17540546C> T null R W 522 522 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs779001484 22q11.21 22 17540558A> C null S R 526 526 missense 0.014 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1166610753 22q11.21 22 17540568G> C null S T 529 529 missense 0.138 benign 0.47 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs777460800 22q11.21 22 17540580C> T null T I 533 533 missense 0.32 benign 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs777460800 22q11.21 22 17540580C> G null T S 533 533 missense 0.823 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs755804225 22q11.21 22 17540582C> T null R C 534 534 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs921298824 22q11.21 22 17540583G> A null R H 534 534 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1366385826 22q11.21 22 17540586C> T null S F 535 535 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1190219428 22q11.21 22 17540591G> T null D Y 537 537 missense 0.95 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1159521491 22q11.21 22 17540601G> T null G V 540 540 missense 0.454 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1470921145 22q11.21 22 17540600G> T null G W 540 540 missense 0.936 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1456176142 22q11.21 22 17540607G> T null S I 542 542 missense 0.276 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1406980432 22q11.21 22 17540617G> C null Q H 545 545 missense 0.804 possibly damaging 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1179166786 22q11.21 22 17540616A> G null Q R 545 545 missense 0.027 benign 0.32 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1395543657 22q11.21 22 17540619A> C null Q P 546 546 missense 0.001 benign 0.29 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1397472752 22q11.21 22 17540622C> T null P L 547 547 missense 0.024 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs771321397 22q11.21 22 17540624A> T null M L 548 548 missense 0.0 benign 0.64 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs771321397 22q11.21 22 17540624A> G null M V 548 548 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs759905602 22q11.21 22 17540628A> T null E V 549 549 missense 0.161 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs770216722 22q11.21 22 17540632T> A null N K 550 550 missense 0.994 probably damaging 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs770216722 22q11.21 22 17540632T> G null N K 550 550 missense 0.994 probably damaging 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1299256152 22q11.21 22 17540634G> T null G V 551 551 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs776005235 22q11.21 22 17540636G> A null G R 552 552 missense 0.999 probably damaging 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 NCI-TCGA,gnomAD rs777261624 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17540643C> T null S L 554 554 missense 0.001 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569152117 22q11.21 22 17540642T> C null S P 554 554 missense 0.0 benign 0.47 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs751805976 22q11.21 22 17540647G> T null L F 555 555 missense 0.889 possibly damaging 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1354271173 22q11.21 22 17540649C> T null P L 556 556 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs767796133 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17540657C> T null R C 559 559 missense 0.549 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs767796133 22q11.21 22 17540657C> G null R G 559 559 missense 0.182 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs565809706 22q11.21 22 17540658G> A null R H 559 559 2.0E-4 missense 0.001 benign 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs767796133 22q11.21 22 17540657C> A null R S 559 559 missense 0.14 benign 0.16 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs200414904 22q11.21 22 17540661G> A null R Q 560 560 missense 0.003 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1471800729 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17540667C> T null P L 562 562 missense 0.0 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1471800729 22q11.21 22 17540667C> G null P R 562 562 missense 0.021 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1375473684 22q11.21 22 17540670C> T null S F 563 563 missense 0.233 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs770431570 22q11.21 22 17540680C> G null D E 566 566 missense 0.003 benign 0.92 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs746659459 22q11.21 22 17540679A> G null D G 566 566 missense 0.001 benign 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs141453031 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17540681G> A null D N 567 567 2.0E-4 missense 0.001 benign 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141453031 22q11.21 22 17540681G> T null D Y 567 567 2.0E-4 missense 0.594 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1410783821 22q11.21 22 17540688G> A null S N 569 569 missense 0.007 benign 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs184360323 22q11.21 22 17540693A> T null S C 571 571 0.005391 missense 0.628 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs184360323 22q11.21 22 17540693A> G null S G 571 571 0.005391 missense 0.057 benign 0.16 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1320585056 22q11.21 22 17540694G> T null S I 571 571 missense 0.084 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1320585056 22q11.21 22 17540694G> C null S T 571 571 missense 0.078 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs775950079 22q11.21 22 17540702C> G null Q E 574 574 missense 0.753 possibly damaging 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1346085214 22q11.21 22 17540706C> A null P H 575 575 missense 0.319 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs894825263 22q11.21 22 17540709C> T null P L 576 576 missense 0.362 benign 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs376281162 22q11.21 22 17540708C> T null P S 576 576 missense 0.007 benign 0.2 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs761960139 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17540712G> A null R Q 577 577 missense 0.003 benign 0.19 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs774240844 22q11.21 22 17540711C> T null R W 577 577 missense 0.549 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs767596260 22q11.21 22 17540715A> T null E V 578 578 missense 0.143 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs759383073 22q11.21 22 17540718T> C null V A 579 579 missense 0.0 benign 0.28 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs571431405 22q11.21 22 17540717G> T null V L 579 579 2.0E-4 missense 0.0 benign 0.29 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs758325027 22q11.21 22 17540721G> A null G D 580 580 missense 0.086 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs752677007 22q11.21 22 17540720G> A null G S 580 580 missense 0.054 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs764104545 22q11.21 22 17540727C> G null S C 582 582 missense 0.533 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs764104545 22q11.21 22 17540727C> A null S Y 582 582 missense 0.459 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs756820244 22q11.21 22 17540729A> G null N D 583 583 missense 0.039 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370750159 22q11.21 22 17540730A> G null N S 583 583 5.99E-4 missense 0.003 benign 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1466047827 22q11.21 22 17540733G> C null G A 584 584 missense 0.036 benign 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs941393599 22q11.21 22 17540732G> A null G S 584 584 missense 0.005 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1304791646 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17540735C> G null R G 585 585 missense 0.07 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs745565052 22q11.21 22 17540736G> A null R Q 585 585 missense 0.003 benign 0.41 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs756435741 22q11.21 22 17540739G> T null G V 586 586 missense 0.454 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs556884942 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17540745C> T null S F 588 588 2.0E-4 missense 0.005 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1328077100 22q11.21 22 17540751C> T null P L 590 590 missense 0.206 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1485404259 22q11.21 22 17540750C> A null P T 590 590 missense 0.073 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,gnomAD rs374940850 22q11.21 22 17540757A> G null H R 592 592 missense 0.116 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1179649142 22q11.21 22 17540760G> A null C Y 593 593 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs749669473 22q11.21 22 17540763G> A null G D 594 594 missense 0.454 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1224251690 22q11.21 22 17540769C> T null T I 596 596 missense 0.001 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1293011876 22q11.21 22 17540772C> G null P R 597 597 missense 0.708 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,gnomAD rs368057111 22q11.21 22 17540775G> T null S I 598 598 missense 0.1 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs748130070 22q11.21 22 17540776C> G null S R 598 598 missense 0.001 benign 0.21 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1448014278 22q11.21 22 17540779G> T null Q H 599 599 missense 0.0 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs772245062 22q11.21 22 17540778A> G null Q R 599 599 missense 0.0 benign 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1188021622 22q11.21 22 17540780G> T null A S 600 600 missense 0.003 benign 0.33 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1483595562 22q11.21 22 17540795C> G null Q E 605 605 missense 0.366 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs573687701 22q11.21 22 17540796A> G null Q R 605 605 3.99E-4 missense 0.715 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1409670784 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17541852C> T null P L 611 611 missense 0.444 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1176229199 22q11.21 22 17541860T> C null F L 614 614 missense 0.708 possibly damaging 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs774120301 22q11.21 22 17541862T> G null F L 614 614 missense 0.708 possibly damaging 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,gnomAD rs377207620 22q11.21 22 17541861T> C null F S 614 614 missense 0.895 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1398987540 22q11.21 22 17541866C> G null P A 616 616 missense 0.058 benign 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1398987540 22q11.21 22 17541866C> T null P S 616 616 missense 0.007 benign 0.25 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs767459756 22q11.21 22 17541870T> C null L P 617 617 missense 0.988 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371979990 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17541873G> A null R Q 618 618 missense 0.003 benign 0.26 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs900285728 22q11.21 22 17541876G> A null G E 619 619 missense 0.206 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1367174836 22q11.21 22 17541875G> A null G R 619 619 missense 0.347 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1347948871 22q11.21 22 17541883T> G null D E 621 621 missense 0.012 benign 0.19 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs760212176 22q11.21 22 17541884C> G null P A 622 622 missense 0.003 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs376303986 22q11.21 22 17541887G> A null A T 623 623 missense 0.0 benign 0.8 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1310499911 22q11.21 22 17541890A> T null T S 624 624 missense 0.0 benign 0.41 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1475550938 22q11.21 22 17541895G> T null L F 625 625 missense 0.296 benign 0.22 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1299542119 22q11.21 22 17541897A> T null Y F 626 626 missense 0.202 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs755269189 22q11.21 22 17541899G> C null G R 627 627 missense 0.424 benign 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC rs779400927 22q11.21 22 17541903C> T null S F 628 628 missense 0.694 possibly damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1204197550 22q11.21 22 17541906C> A null S Y 629 629 missense 0.459 possibly damaging 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1296794 pubmed:11214970,pubmed:11381032 22q11.21 22 17541915C> T null P L 632 632 0.07628 missense 0.448 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1296794 22q11.21 22 17541915C> G null P R 632 632 0.07628 missense 0.986 probably damaging 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1191672133 22q11.21 22 17541917G> A null E K 633 633 missense 0.318 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs771156133 22q11.21 22 17541925C> A null H Q 635 635 missense 0.006 benign 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1430973376 22q11.21 22 17541923C> T null H Y 635 635 missense 0.185 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1370788467 22q11.21 22 17541927C> T null P L 636 636 missense 0.054 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs572732838 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17541929G> A null G R 637 637 3.99E-4 missense 0.048 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs572732838 22q11.21 22 17541929G> T null G W 637 637 3.99E-4 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1367817961 22q11.21 22 17541932G> A null E K 638 638 missense 0.118 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1366065586 22q11.21 22 17541938G> T null V L 640 640 missense 0.0 benign 0.86 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1366065586 22q11.21 22 17541938G> A null V M 640 640 missense 0.006 benign 0.31 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1298350373 22q11.21 22 17541941C> A null Q K 641 641 missense 0.104 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1226457825 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17541947C> T null R C 643 643 missense 0.183 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs144027854 22q11.21 22 17541948G> A null R H 643 643 0.001797 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs144027854 22q11.21 22 17541948G> T null R L 643 643 0.001797 missense 0.011 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs144027854 22q11.21 22 17541948G> C null R P 643 643 0.001797 missense 0.0 benign 0.2 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1319406461 22q11.21 22 17541951A> G null Q R 644 644 missense 0.001 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs760159046 22q11.21 22 17541959A> G null T A 647 647 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1221966970 22q11.21 22 17541962A> C null M L 648 648 missense 0.0 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1221966970 22q11.21 22 17541962A> G null M V 648 648 missense 0.0 benign 0.34 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs773104468 22q11.21 22 17542161C> T null P L 651 651 missense 0.039 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1238851558 22q11.21 22 17542160C> T null P S 651 651 missense 0.039 benign 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1163098601 22q11.21 22 17542164T> G null V G 652 652 missense 0.003 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1459322621 22q11.21 22 17542167G> A null G E 653 653 missense 0.963 probably damaging 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs935566022 22q11.21 22 17542173A> G null N S 655 655 missense 0.003 benign 0.31 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs770335358 22q11.21 22 17542175A> C null S R 656 656 missense 0.01 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1338704895 22q11.21 22 17542181C> T null R * 658 658 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374288835 22q11.21 22 17542182G> A null R Q 658 658 2.0E-4 missense 0.289 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1447550873 22q11.21 22 17542184G> A null G R 659 659 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1376654868 22q11.21 22 17542188C> A null P H 660 660 missense 0.001 benign 0.31 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1376654868 22q11.21 22 17542188C> T null P L 660 660 missense 0.058 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs200166225 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542187C> A null P T 660 660 3.99E-4 missense 0.001 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs80293963 22q11.21 22 17542192G> T null R S 661 661 9.98E-4 missense 0.026 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs915492918 22q11.21 22 17542197G> A null G D 663 663 missense 0.058 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs763386899 22q11.21 22 17542203C> T null P L 665 665 missense 0.115 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs763386899 22q11.21 22 17542203C> G null P R 665 665 missense 0.391 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1328315232 22q11.21 22 17542202C> T null P S 665 665 missense 0.007 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs370552803 22q11.21 22 17542213G> T null K N 668 668 missense 0.001 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs370552803 22q11.21 22 17542213G> C null K N 668 668 missense 0.001 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs757893194 22q11.21 22 17542218T> C null M T 670 670 missense 0.003 benign 0.44 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,NCI-TCGA,gnomAD rs375149434 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542223G> A null G R 672 672 missense 0.188 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs375154158 22q11.21 22 17542227G> A null G E 673 673 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs756173954 22q11.21 22 17542226G> C null G R 673 673 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs375154158 22q11.21 22 17542227G> T null G V 673 673 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1045477060 22q11.21 22 17542238C> G null L V 677 677 missense 0.023 benign 0.62 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1241227407 22q11.21 22 17542244A> G null N D 679 679 missense 0.0 benign 0.42 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62623401 22q11.21 22 17542247A> T null M L 680 680 0.005591 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62623401 22q11.21 22 17542247A> G null M V 680 680 0.005591 missense 0.003 benign 0.26 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs749506545 22q11.21 22 17542254C> T null P L 682 682 missense 0.136 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1414158079 22q11.21 22 17542263G> A null G E 685 685 missense 0.157 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs201344281 22q11.21 22 17542269T> C null L S 687 687 missense 0.879 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1280553036 22q11.21 22 17542275T> C null L P 689 689 missense 0.037 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1350565538 22q11.21 22 17542278G> A null G E 690 690 missense 0.255 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs555150747 22q11.21 22 17542277G> C null G R 690 690 2.0E-4 missense 0.007 benign 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569153461 22q11.21 22 17542282G> T null Q H 691 691 missense 0.453 possibly damaging 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs776463702 22q11.21 22 17542287G> T null S I 693 693 missense 0.188 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs867490692 22q11.21 22 17542293C> A null P Q 695 695 missense 0.621 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1352016434 22q11.21 22 17542295A> C null S R 696 696 missense 0.255 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1349857911 22q11.21 22 17542302A> G null D G 698 698 missense 0.038 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1349857911 22q11.21 22 17542302A> T null D V 698 698 missense 0.723 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1191664064 22q11.21 22 17542305G> A null G E 699 699 missense 0.476 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs745331512 22q11.21 22 17542304G> A null G R 699 699 missense 0.046 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1276150251 22q11.21 22 17542308G> A null S N 700 700 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs775249697 22q11.21 22 17542312G> A null M I 701 701 missense 0.0 benign 0.18 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs769235781 22q11.21 22 17542311T> C null M T 701 701 missense 0.023 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1345084527 22q11.21 22 17542310A> G null M V 701 701 missense 0.0 benign 0.39 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1206330223 22q11.21 22 17542320C> T null P L 704 704 missense 0.738 possibly damaging 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs764536216 22q11.21 22 17542326A> G null Q R 706 706 missense 0.081 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1471932703 22q11.21 22 17542330C> G null F L 707 707 missense 0.755 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1201602380 22q11.21 22 17542331C> T null Q * 708 708 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs774795910 22q11.21 22 17542334C> G null P A 709 709 missense 0.0 benign 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1430634394 22q11.21 22 17542345T> G null I M 712 712 missense 0.036 benign 0.17 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1035802887 22q11.21 22 17542344T> G null I S 712 712 missense 0.342 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1035802887 22q11.21 22 17542344T> C null I T 712 712 missense 0.212 benign 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1170827944 22q11.21 22 17542343A> G null I V 712 712 missense 0.053 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs768023446 22q11.21 22 17542346C> G null P A 713 713 missense 0.079 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1003666211 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542347C> T null P L 713 713 missense 0.115 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs756191428 22q11.21 22 17542349C> G null P A 714 714 missense 0.283 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs756191428 22q11.21 22 17542349C> T null P S 714 714 missense 0.048 benign 0.17 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs766437636 22q11.21 22 17542353G> A null R Q 715 715 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1325472870 22q11.21 22 17542352C> T null R W 715 715 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs754048814 22q11.21 22 17542356A> G null H R 716 716 missense 0.143 benign 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1160985415 22q11.21 22 17542355C> T null H Y 716 716 missense 0.001 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs751314301 22q11.21 22 17542359G> C null G A 717 717 missense 0.192 benign 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs751314301 22q11.21 22 17542359G> A null G E 717 717 missense 0.454 possibly damaging 0.3 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs779112675 22q11.21 22 17542358G> T null G W 717 717 missense 0.936 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs779765763 22q11.21 22 17542362G> A null G E 718 718 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs965763745 22q11.21 22 17542364G> A null A T 719 719 missense 0.003 benign 0.59 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs762217568 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542370G> T null A S 721 721 missense 0.024 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs191800029 22q11.21 22 17542371C> T null A V 721 721 0.004393 missense 0.001 benign 0.3 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144189023 22q11.21 22 17542374G> A null R Q 722 722 3.99E-4 missense 0.992 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1196925978 22q11.21 22 17542373C> T null R W 722 722 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs761145068 22q11.21 22 17542380C> T null P L 724 724 missense 0.007 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1388502180 22q11.21 22 17542384C> A null D E 725 725 missense 0.001 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1168176424 22q11.21 22 17542382G> A null D N 725 725 missense 0.003 benign 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1288080187 22q11.21 22 17542385T> C null F L 726 726 missense 0.931 probably damaging 0.08 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs753849827 22q11.21 22 17542388C> G null P A 727 727 missense 0.0 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs560689415 22q11.21 22 17542389C> G null P R 727 727 2.0E-4 missense 0.143 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs753849827 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542388C> T null P S 727 727 missense 0.001 benign 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs765393163 22q11.21 22 17542397T> G null S A 730 730 missense 0.079 benign 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1366697940 22q11.21 22 17542401A> G null E G 731 731 missense 0.655 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC rs752966485 22q11.21 22 17542400G> A null E K 731 731 missense 0.452 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC rs757045032 22q11.21 22 17542404T> C null I T 732 732 missense 0.026 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs755944490 22q11.21 22 17542409C> G null P A 734 734 missense 0.081 benign 0.2 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1460829754 22q11.21 22 17542410C> A null P H 734 734 missense 0.95 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs755944490 22q11.21 22 17542409C> T null P S 734 734 missense 0.588 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs780142096 22q11.21 22 17542412A> G null S G 735 735 missense 0.001 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1208546091 22q11.21 22 17542414C> G null S R 735 735 missense 0.446 possibly damaging 0.27 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs748762083 22q11.21 22 17542416A> G null H R 736 736 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,TOPMed rs374914535 22q11.21 22 17542419T> C null M T 737 737 missense 0.026 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199565531 22q11.21 22 17542422A> G null Y C 738 738 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs372510090 22q11.21 22 17542425G> A null R Q 739 739 missense 0.005 benign 0.19 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1425721045 22q11.21 22 17542428C> T null S L 740 740 missense 0.158 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1244171757 22q11.21 22 17542431A> G null Y C 741 741 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs773392224 22q11.21 22 17542444T> A null N K 745 745 missense 0.335 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1371508220 22q11.21 22 17542443A> G null N S 745 745 missense 0.03 benign 0.18 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs867067950 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 22q11.21 22 17542445C> T null R * 746 746 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs867067950 22q11.21 22 17542445C> G null R G 746 746 missense 0.549 possibly damaging 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375582437 22q11.21 22 17542446G> A null R Q 746 746 3.99E-4 missense 0.493 possibly damaging 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA rs771388012 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542455C> G null S C 749 749 missense 0.0 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs183626253 22q11.21 22 17542458C> T null A V 750 750 2.0E-4 missense 0.012 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs893590232 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542460G> A null V I 751 751 missense 0.202 benign 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs752958150 22q11.21 22 17542475C> T null H Y 756 756 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs373814902 22q11.21 22 17542479G> T null G V 757 757 missense 0.546 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,NCI-TCGA,gnomAD rs188173829 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542484A> G null T A 759 759 2.0E-4 missense 0.0 benign 0.9 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs764385664 22q11.21 22 17542485C> T null T M 759 759 missense 0.475 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs756001932 22q11.21 22 17542490C> G null Q E 761 761 missense 0.01 benign 0.37 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569153898 22q11.21 22 17542496C> T null P S 763 763 missense 0.001 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1395057392 22q11.21 22 17542500T> C null L S 764 764 missense 0.844 possibly damaging 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1484398236 22q11.21 22 17542506C> T null P L 766 766 missense 0.022 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1259026427 22q11.21 22 17542505C> T null P S 766 766 missense 0.036 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs754535050 22q11.21 22 17542514A> G null K E 769 769 missense 0.985 probably damaging 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1185478111 22q11.21 22 17542516G> T null K N 769 769 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1414112929 22q11.21 22 17542517C> A null P T 770 770 missense 0.006 benign 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs552193684 22q11.21 22 17542530C> T null P L 774 774 2.0E-4 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs552193684 22q11.21 22 17542530C> G null P R 774 774 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1467304016 22q11.21 22 17542538T> G null S A 777 777 missense 0.239 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs777514261 22q11.21 22 17542543C> A null H Q 778 778 missense 0.009 benign 0.27 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1401005512 22q11.21 22 17542542A> G null H R 778 778 missense 0.084 benign 0.3 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs760278050 22q11.21 22 17542541C> T null H Y 778 778 missense 0.196 benign 0.78 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1290532844 22q11.21 22 17542545A> G null Q R 779 779 missense 0.058 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs771332466 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542550C> T null R C 781 781 missense 0.72 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs777090706 22q11.21 22 17542551G> A null R H 781 781 missense 0.003 benign 0.53 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC rs769848412 22q11.21 22 17542553A> G null T A 782 782 missense 0.0 benign 0.38 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1422176388 22q11.21 22 17542554C> A null T N 782 782 missense 0.0 benign 0.17 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs376789433 22q11.21 22 17542556C> T null L F 783 783 missense 0.796 possibly damaging 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs376789433 22q11.21 22 17542556C> G null L V 783 783 missense 0.184 benign 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs897928746 22q11.21 22 17542559G> A null G S 784 784 missense 0.093 benign 0.26 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs531781031 22q11.21 22 17542562C> G null H D 785 785 2.0E-4 missense 0.086 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs531781031 22q11.21 22 17542562C> T null H Y 785 785 2.0E-4 missense 0.261 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs748730538 22q11.21 22 17542565G> T null V L 786 786 missense 0.006 benign 0.21 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs748730538 22q11.21 22 17542565G> A null V M 786 786 missense 0.003 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1049374823 22q11.21 22 17542575C> T null S F 789 789 missense 0.365 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1309474000 22q11.21 22 17542577C> G null R G 790 790 missense 0.552 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs754905189 22q11.21 22 17542578G> A null R Q 790 790 missense 0.616 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1405641894 22q11.21 22 17542586A> G null R G 793 793 missense 0.991 probably damaging 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1233212895 22q11.21 22 17542592C> T null P S 795 795 missense 0.07 benign 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1371677722 22q11.21 22 17542596T> C null V A 796 796 missense 0.015 benign 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs548687461 22q11.21 22 17542595G> T null V F 796 796 2.0E-4 missense 0.036 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61740316 22q11.21 22 17542598C> G null P A 797 797 3.99E-4 missense 0.193 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61740316 22q11.21 22 17542598C> T null P S 797 797 3.99E-4 missense 0.597 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs377545671 22q11.21 22 17542601C> G null P A 798 798 missense 0.0 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs370474804 22q11.21 22 17542602C> A null P H 798 798 missense 0.319 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs370474804 22q11.21 22 17542602C> T null P L 798 798 missense 0.036 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs370474804 22q11.21 22 17542602C> G null P R 798 798 missense 0.109 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs377545671 22q11.21 22 17542601C> T null P S 798 798 missense 0.001 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs377545671 22q11.21 22 17542601C> A null P T 798 798 missense 0.0 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs746241065 22q11.21 22 17542605A> G null N S 799 799 missense 0.005 benign 0.37 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1172166838 22q11.21 22 17542612G> C null W C 801 801 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs763476560 22q11.21 22 17542613A> G null T A 802 802 missense 0.007 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1015121618 22q11.21 22 17542614C> T null T I 802 802 missense 0.444 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1396048894 22q11.21 22 17542616G> A null E K 803 803 missense 0.005 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1219889810 22q11.21 22 17542619C> T null Q * 804 804 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs768824476 22q11.21 22 17542621A> T null Q H 804 804 missense 0.993 probably damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs534308593 22q11.21 22 17542620A> T null Q L 804 804 2.0E-4 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1417849839 22q11.21 22 17542622T> G null S A 805 805 missense 0.021 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1276575213 22q11.21 22 17542625G> T null G C 806 806 missense 0.498 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1249984919 22q11.21 22 17542626G> T null G V 806 806 missense 0.206 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1483273164 22q11.21 22 17542628T> A null F I 807 807 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1203509755 22q11.21 22 17542629T> A null F Y 807 807 missense 0.98 probably damaging 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs767869496 22q11.21 22 17542638A> G null H R 810 810 missense 0.502 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs776164961 22q11.21 22 17542643G> A null V I 812 812 missense 0.003 benign 0.17 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1481746506 22q11.21 22 17542647C> T null P L 813 813 missense 0.356 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs550266263 22q11.21 22 17542646C> T null P S 813 813 missense 0.251 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1452227691 22q11.21 22 17542656G> A null G E 816 816 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs973585534 22q11.21 22 17542663G> A null M I 818 818 missense 0.0 benign 0.67 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs765038064 22q11.21 22 17542661A> T null M L 818 818 missense 0.0 benign 0.35 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs765038064 22q11.21 22 17542661A> G null M V 818 818 missense 0.005 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1390347431 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542665G> A null R Q 819 819 missense 0.001 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,gnomAD rs762336876 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542668C> T null P L 820 820 missense 0.75 possibly damaging 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs752731044 22q11.21 22 17542667C> A null P T 820 820 missense 0.738 possibly damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs751199504 22q11.21 22 17542671C> A null P H 821 821 missense 0.029 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569154189 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542670C> T null P S 821 821 missense 0.255 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs750743419 22q11.21 22 17542683C> T null A V 825 825 missense 0.024 benign 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs570964077 22q11.21 22 17542685G> A null G R 826 826 3.99E-4 missense 0.633 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs749874860 22q11.21 22 17542689A> G null H R 827 827 missense 0.084 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs778996983 22q11.21 22 17542692G> A null R Q 828 828 missense 0.992 probably damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs768608640 22q11.21 22 17542691C> T null R W 828 828 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1272039825 22q11.21 22 17542701C> G null P R 831 831 missense 0.454 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1414986222 22q11.21 22 17542704C> T null P L 832 832 missense 0.205 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1466576763 22q11.21 22 17542703C> T null P S 832 832 missense 0.007 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569154251 22q11.21 22 17542718C> T null P S 837 837 missense 0.039 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs772379155 22q11.21 22 17542721A> G null S G 838 838 missense 0.0 benign 0.66 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1474842980 22q11.21 22 17542729G> C null L F 840 840 missense 0.844 possibly damaging 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs946569452 22q11.21 22 17542728T> C null L S 840 840 missense 0.563 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs773592361 22q11.21 22 17542734G> A null G E 842 842 missense 0.762 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1185214882 22q11.21 22 17542733G> A null G R 842 842 missense 0.101 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs773592361 22q11.21 22 17542734G> T null G V 842 842 missense 0.861 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs371155032 22q11.21 22 17542737C> T null A V 843 843 missense 0.039 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs375454384 22q11.21 22 17542743C> G null A G 845 845 missense 0.01 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs375454384 22q11.21 22 17542743C> T null A V 845 845 missense 0.015 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs763004900 22q11.21 22 17542747G> C null Q H 846 846 missense 0.564 possibly damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs540078259 22q11.21 22 17542755G> A null R Q 849 849 3.99E-4 missense 0.992 probably damaging 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs763950393 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542754C> T null R W 849 849 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1268237122 22q11.21 22 17542757G> C null G R 850 850 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs919306125 22q11.21 22 17542758G> T null G V 850 850 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs574882726 22q11.21 22 17542760G> C null V L 851 851 2.0E-4 missense 0.058 benign 0.24 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs750122881 22q11.21 22 17542766G> A null G R 853 853 missense 0.046 benign 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1261197009 22q11.21 22 17542769G> C null G R 854 854 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC rs756433243 22q11.21 22 17542772G> T null D Y 855 855 missense 0.707 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,TOPMed rs371894172 22q11.21 22 17542778A> G null M V 857 857 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1332083228 22q11.21 22 17542783G> A null M I 858 858 missense 0.084 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1233586469 22q11.21 22 17542785A> G null D G 859 859 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,TOPMed,gnomAD rs375046067 22q11.21 22 17542784G> A null D N 859 859 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1268190307 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542789C> A null S R 860 860 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1238797754 22q11.21 22 17542798G> T null M I 863 863 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs895797338 22q11.21 22 17542800T> C null I T 864 864 missense 0.617 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,gnomAD rs751991001 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542803C> T null A V 865 865 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1040239492 22q11.21 22 17542807G> C null M I 866 866 missense 0.914 probably damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs865863983 22q11.21 22 17542812A> G null Q R 868 868 missense 0.968 probably damaging 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs748190052 22q11.21 22 17542815T> C null L P 869 869 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed rs371506365 22q11.21 22 17542823C> T null R C 872 872 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs749037630 22q11.21 22 17542824G> A null R H 872 872 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs554165872 22q11.21 22 17542826G> A null V I 873 873 2.0E-4 missense 0.5 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1292384319 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542830G> T null C F 874 874 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1448484952 22q11.21 22 17542829T> C null C R 874 874 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs761287576 22q11.21 22 17542832C> G null P A 875 875 missense 0.359 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs772841909 22q11.21 22 17542833C> T null P L 875 875 missense 0.019 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs761287576 22q11.21 22 17542832C> T null P S 875 875 missense 0.709 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs574162099 22q11.21 22 17542836C> T null P L 876 876 2.0E-4 missense 0.997 probably damaging 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs574162099 22q11.21 22 17542836C> A null P Q 876 876 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs574162099 22q11.21 22 17542836C> G null P R 876 876 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1349361488 22q11.21 22 17542839G> A null G D 877 877 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1221535417 22q11.21 22 17542841G> A null V M 878 878 missense 0.956 probably damaging 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs754190762 22q11.21 22 17542853C> G null P A 882 882 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs374991571 22q11.21 22 17542856C> A null H N 883 883 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs753298554 22q11.21 22 17542857A> C null H P 883 883 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs758545887 22q11.21 22 17542860A> G null Q R 884 884 missense 0.176 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs757433754 22q11.21 22 17542868C> G null H D 887 887 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs749059089 22q11.21 22 17542870C> A null H Q 887 887 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs781296557 22q11.21 22 17542869A> G null H R 887 887 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs774238904 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542874C> T null R C 889 889 missense 0.183 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs371679902 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 22q11.21 22 17542875G> A null R H 889 889 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1411378531 22q11.21 22 17542878T> C null L S 890 890 missense 0.274 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1018581926 22q11.21 22 17542881C> G null P R 891 891 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1335032436 22q11.21 22 17542889T> A null F I 894 894 missense 0.991 probably damaging 0.04 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs772013265 22q11.21 22 17542893C> T null P L 895 895 missense 0.998 probably damaging 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1236274713 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542892C> T null P S 895 895 missense 0.996 probably damaging 0.11 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569154565 22q11.21 22 17542899T> C null V A 897 897 missense 0.0 benign 0.35 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs373510634 22q11.21 22 17542898G> T null V L 897 897 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1278695778 22q11.21 22 17542901G> A null A T 898 898 missense 0.227 benign 0.13 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201407739 22q11.21 22 17542906C> A null H Q 899 899 2.0E-4 missense 0.328 benign 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,gnomAD rs766008292 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542905A> G null H R 899 899 missense 0.229 benign 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1250439461 22q11.21 22 17542907C> G null P A 900 900 missense 0.0 benign 0.81 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1436518987 22q11.21 22 17542908C> G null P R 900 900 missense 0.021 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs759916074 22q11.21 22 17542910A> G null M V 901 901 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1247358202 22q11.21 22 17542913T> A null S T 902 902 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1454037670 22q11.21 22 17542917T> C null V A 903 903 missense 0.036 benign 0.73 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed rs765766105 22q11.21 22 17542920C> T null T I 904 904 missense 0.047 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1431404739 22q11.21 22 17542923T> C null V A 905 905 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1431404739 22q11.21 22 17542923T> G null V G 905 905 missense 0.036 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1476064838 22q11.21 22 17542922G> T null V L 905 905 missense 0.0 benign 0.28 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1325305380 22q11.21 22 17542928G> T null A S 907 907 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs758915481 22q11.21 22 17542935A> G null K R 909 909 missense 0.985 probably damaging 0.1 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs764701990 22q11.21 22 17542940G> C null A P 911 911 missense 0.001 benign 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs764701990 22q11.21 22 17542940G> T null A S 911 911 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs764701990 22q11.21 22 17542940G> A null A T 911 911 missense 0.0 benign 0.07 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs751613694 22q11.21 22 17542949A> T null N Y 914 914 missense 0.08 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1439453680 22q11.21 22 17542953C> T null P L 915 915 missense 0.001 benign 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,gnomAD rs369725349 22q11.21 22 17542955G> A null G R 916 916 missense 0.011 benign 0.04 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs753114764 22q11.21 22 17542961G> A null A T 918 918 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs754756829 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 22q11.21 22 17542965C> T null P L 919 919 missense 0.017 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs577013970 22q11.21 22 17542964C> T null P S 919 919 5.99E-4 missense 0.015 benign 0.18 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1212118850 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542967G> A null E K 920 920 missense 0.01 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1291161615 22q11.21 22 17542971A> T null N I 921 921 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1190205803 22q11.21 22 17542973A> G null S G 922 922 missense 0.001 benign 0.45 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs546365660 22q11.21 22 17542979G> A null A T 924 924 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1250155010 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542985G> A null E K 926 926 missense 0.591 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1250155010 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542985G> C null E Q 926 926 missense 0.863 possibly damaging 0.1 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1452511860 22q11.21 22 17542988C> G null P A 927 927 missense 0.368 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,gnomAD rs771961965 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17542991G> A null E K 928 928 missense 0.036 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1252258606 22q11.21 22 17542997G> T null D Y 930 930 missense 0.36 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs777593552 22q11.21 22 17543001A> G null Q R 931 931 missense 0.0 benign 0.66 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1355461835 22q11.21 22 17548150G> A null E K 933 933 missense 0.036 benign 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs777735148 22q11.21 22 17548154C> T null P L 934 934 missense 0.588 possibly damaging 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs777735148 22q11.21 22 17548154C> G null P R 934 934 missense 0.91 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs758238356 22q11.21 22 17548153C> T null P S 934 934 missense 0.722 possibly damaging 0.12 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs746987524 22q11.21 22 17548158G> C null L F 935 935 missense 0.216 benign 0.07 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1326537227 22q11.21 22 17548177C> G null P A 942 942 missense 0.003 benign 0.37 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs923181398 22q11.21 22 17548178C> T null P L 942 942 missense 0.086 benign 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs923181398 22q11.21 22 17548178C> G null P R 942 942 missense 0.296 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1485325889 22q11.21 22 17548180C> T null P S 943 943 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs770463054 22q11.21 22 17548183G> C null G R 944 944 missense 0.034 benign 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1195959398 22q11.21 22 17548186G> A null V I 945 945 missense 0.0 benign 0.62 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs866999002 22q11.21 22 17548196C> A null S * 948 948 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs780508638 22q11.21 22 17548198G> A null E K 949 949 missense 0.452 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1240821807 22q11.21 22 17548201G> A null G R 950 950 missense 0.007 benign 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1240821807 22q11.21 22 17548201G> C null G R 950 950 missense 0.007 benign 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs769530792 22q11.21 22 17548204G> T null V F 951 951 missense 0.034 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1361762224 22q11.21 22 17548208A> T null Y F 952 952 missense 0.011 benign 0.31 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1271482010 22q11.21 22 17548214C> T null T I 954 954 missense 0.143 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs775299608 22q11.21 22 17548213A> T null T S 954 954 missense 0.024 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1340073398 22q11.21 22 17548219C> G null L V 956 956 missense 0.991 probably damaging 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs763383175 22q11.21 22 17548223C> T null P L 957 957 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1390902820 22q11.21 22 17548227C> A null H Q 958 958 missense 0.991 probably damaging 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1374600578 22q11.21 22 17548226A> G null H R 958 958 missense 0.991 probably damaging 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1304939038 22q11.21 22 17548232C> T null T I 960 960 missense 0.047 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs917348330 22q11.21 22 17548235C> T null P L 961 961 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1300127854 22q11.21 22 17548241T> C null L P 963 963 missense 0.905 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1198331467 22q11.21 22 17548244A> C null Q P 964 964 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1174712019 22q11.21 22 17548253G> A null C Y 967 967 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs774915476 22q11.21 22 17548256C> T null T I 968 968 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1370490767 22q11.21 22 17548255A> C null T P 968 968 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs774915476 22q11.21 22 17548256C> G null T S 968 968 missense 0.003 benign 0.29 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1346908972 22q11.21 22 17548259G> A null R K 969 969 missense 0.97 probably damaging 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1208377079 22q11.21 22 17548262A> G null Q R 970 970 missense 0.003 benign 0.55 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs572491894 22q11.21 22 17548264A> T null S C 971 971 missense 0.72 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC rs762171382 22q11.21 22 17548268C> G null S * 972 972 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1328023397 22q11.21 22 17548270C> T null P S 973 973 missense 0.556 possibly damaging 0.07 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs947142622 22q11.21 22 17548273C> A null Q K 974 974 missense 0.023 benign 0.04 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs750433289 22q11.21 22 17548278A> T null E D 975 975 missense 0.003 benign 0.37 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs768076456 22q11.21 22 17548276G> A null E K 975 975 missense 0.165 benign 0.17 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1434596142 22q11.21 22 17548280G> A null R K 976 976 missense 0.104 benign 0.35 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs766566344 22q11.21 22 17548288G> A null V M 979 979 missense 0.123 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs899312781 22q11.21 22 17548291G> A null G S 980 980 missense 0.115 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1170806305 22q11.21 22 17548292G> T null G V 980 980 missense 0.006 benign 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs754100190 22q11.21 22 17548294C> G null P A 981 981 missense 0.138 benign 0.05 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370696488 22q11.21 22 17548295C> T null P L 981 981 3.99E-4 missense 0.46 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1479206066 22q11.21 22 17548303A> C null K Q 984 984 missense 0.122 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs751381916 22q11.21 22 17548304A> C null K T 984 984 missense 0.212 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1302957898 22q11.21 22 17548310G> C null S T 986 986 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1050658335 22q11.21 22 17548318G> A null E K 989 989 missense 0.043 benign 0.13 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs889362675 22q11.21 22 17548319A> T null E V 989 989 missense 0.082 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs781220737 22q11.21 22 17548325C> G null A G 991 991 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs781220737 22q11.21 22 17548325C> T null A V 991 991 missense 0.037 benign 0.04 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs755729821 22q11.21 22 17548331A> G null N S 993 993 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs993502269 22q11.21 22 17548339G> A null A T 996 996 missense 0.012 benign 0.11 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1047746260 22q11.21 22 17548344G> A null M I 997 997 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1018989971 22q11.21 22 17548343T> A null M K 997 997 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1203712862 22q11.21 22 17548351A> G null K E 1000 1000 missense 0.339 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs201295786 22q11.21 22 17548352A> G null K R 1000 1000 missense 0.011 benign 0.18 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,TOPMed rs554402218 22q11.21 22 17548357C> T null P S 1002 1002 2.0E-4 missense 0.015 benign 0.17 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs574553165 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 22q11.21 22 17548367C> T null S L 1005 1005 2.0E-4 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1352219709 22q11.21 22 17548369G> A null D N 1006 1006 missense 0.051 benign 0.04 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs781063230 22q11.21 22 17548372A> G null S G 1007 1007 missense 0.0 benign 0.13 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1433548543 22q11.21 22 17548373G> A null S N 1007 1007 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs773757364 22q11.21 22 17548375A> G null S G 1008 1008 missense 0.0 benign 0.62 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368828545 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548384G> A null G S 1011 1011 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1286205890 22q11.21 22 17548388C> T null P L 1012 1012 missense 0.115 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs765498466 22q11.21 22 17548387C> T null P S 1012 1012 missense 0.079 benign 0.1 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs201042679 22q11.21 22 17548394C> G null A G 1014 1014 missense 0.036 benign 0.25 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs370892204 22q11.21 22 17548393G> T null A S 1014 1014 missense 0.005 benign 0.19 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370892204 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 22q11.21 22 17548393G> A null A T 1014 1014 missense 0.001 benign 0.37 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1271768236 22q11.21 22 17548397A> G null Q R 1015 1015 missense 0.968 probably damaging 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs368251446 22q11.21 22 17548400G> A null G E 1016 1016 missense 0.902 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1362431999 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548399G> A null G R 1016 1016 missense 0.945 probably damaging 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs779767457 22q11.21 22 17548403G> A null C Y 1017 1017 missense 0.692 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371695265 22q11.21 22 17548405G> A null V M 1018 1018 7.99E-4 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569158351 22q11.21 22 17548412A> G null D G 1020 1020 missense 0.197 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs778651502 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548421C> T null T M 1023 1023 missense 0.265 benign 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1193253270 22q11.21 22 17548426G> A null A T 1025 1025 missense 0.007 benign 0.08 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1475309438 22q11.21 22 17548436G> T null G V 1028 1028 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1291357851 22q11.21 22 17548438G> T null A S 1029 1029 missense 0.029 benign 0.3 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs371779588 22q11.21 22 17548441C> G null L V 1030 1030 missense 0.018 benign 0.2 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1344217120 22q11.21 22 17548449G> T null E D 1032 1032 missense 0.978 probably damaging 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200483181 22q11.21 22 17548447G> A null E K 1032 1032 2.0E-4 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs776623814 22q11.21 22 17548450A> G null N D 1033 1033 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs776623814 22q11.21 22 17548450A> C null N H 1033 1033 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1319269560 22q11.21 22 17548453G> A null G R 1034 1034 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1474935914 22q11.21 22 17548457T> A null V D 1035 1035 missense 0.462 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1429782810 22q11.21 22 17548461T> G null I M 1036 1036 missense 0.003 benign 0.19 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201137830 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548460T> C null I T 1036 1036 5.99E-4 missense 0.0 benign 0.34 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1485041858 22q11.21 22 17548462G> C null G R 1037 1037 missense 0.347 benign 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1357359366 22q11.21 22 17548466A> C null E A 1038 1038 missense 0.989 probably damaging 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs920660480 22q11.21 22 17548465G> A null E K 1038 1038 missense 0.985 probably damaging 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs761482382 22q11.21 22 17548474C> G null P A 1041 1041 missense 0.079 benign 0.11 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs750370962 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548484C> T null S L 1044 1044 missense 0.17 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,gnomAD rs562067573 22q11.21 22 17548486G> A null E K 1045 1045 2.0E-4 missense 0.985 probably damaging 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs867656211 22q11.21 22 17548489G> A null G R 1046 1046 missense 0.556 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs756055357 22q11.21 22 17548499T> G null L R 1049 1049 missense 0.005 benign 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs766452519 22q11.21 22 17548501G> C null G R 1050 1050 missense 0.391 benign 0.08 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs766452519 22q11.21 22 17548501G> A null G S 1050 1050 missense 0.011 benign 0.27 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1486313824 22q11.21 22 17548504A> G null S G 1051 1051 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs369500490 22q11.21 22 17548505G> T null S I 1051 1051 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs369500490 22q11.21 22 17548505G> C null S T 1051 1051 missense 0.0 benign 0.12 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1255979923 22q11.21 22 17548507A> G null S G 1052 1052 missense 0.001 benign 0.22 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1278514042 22q11.21 22 17548511G> A null G D 1053 1053 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs752465426 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548516G> A null E K 1055 1055 missense 0.566 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs758680683 22q11.21 22 17548523T> C null L P 1057 1057 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1156653093 22q11.21 22 17548525C> T null L F 1058 1058 missense 0.178 benign 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1312232447 22q11.21 22 17548534A> G null R G 1061 1061 missense 0.003 benign 0.28 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1443818787 22q11.21 22 17548538G> A null G D 1062 1062 missense 0.335 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1353412481 22q11.21 22 17548537G> A null G S 1062 1062 missense 0.054 benign 0.04 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs756767133 22q11.21 22 17548544C> T null T M 1064 1064 missense 0.226 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs756767133 22q11.21 22 17548544C> G null T R 1064 1064 missense 0.171 benign 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1461413213 22q11.21 22 17548543A> T null T S 1064 1064 missense 0.026 benign 0.1 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1010125185 22q11.21 22 17548550A> G null Q R 1066 1066 missense 0.196 benign 0.42 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1467443513 22q11.21 22 17548552G> A null E K 1067 1067 missense 0.197 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs186816630 22q11.21 22 17548568C> T null T M 1072 1072 2.0E-4 missense 0.001 benign 0.77 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs373078553 22q11.21 22 17548571G> A null G E 1073 1073 missense 0.43 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1210535333 22q11.21 22 17548570G> A null G R 1073 1073 missense 0.024 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs769011525 22q11.21 22 17548579G> T null A S 1076 1076 missense 0.003 benign 0.35 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs769011525 22q11.21 22 17548579G> A null A T 1076 1076 missense 0.0 benign 0.63 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1468839453 22q11.21 22 17548583C> G null A G 1077 1077 missense 0.001 benign 0.3 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs773103346 22q11.21 22 17548582G> A null A T 1077 1077 missense 0.0 benign 0.38 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1468839453 22q11.21 22 17548583C> T null A V 1077 1077 missense 0.028 benign 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs766397464 22q11.21 22 17548586C> T null T I 1078 1078 missense 0.034 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs758968482 22q11.21 22 17548589C> T null P L 1079 1079 missense 0.003 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs753854261 22q11.21 22 17548588C> T null P S 1079 1079 missense 0.005 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs764864172 22q11.21 22 17548597A> G null T A 1082 1082 missense 0.0 benign 0.51 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs745565837 22q11.21 22 17548602C> A null D E 1083 1083 missense 0.017 benign 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs745565837 22q11.21 22 17548602C> G null D E 1083 1083 missense 0.017 benign 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1329005384 22q11.21 22 17548601A> G null D G 1083 1083 missense 0.612 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1230113168 22q11.21 22 17548600G> T null D Y 1083 1083 missense 0.915 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs757980872 22q11.21 22 17548603C> T null P S 1084 1084 missense 0.057 benign 0.09 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1371209311 22q11.21 22 17548606G> A null G S 1085 1085 missense 0.0 benign 0.79 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs777432282 22q11.21 22 17548613C> T null T M 1087 1087 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1234088205 22q11.21 22 17548612A> T null T S 1087 1087 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs757663874 22q11.21 22 17548619G> A null G D 1089 1089 missense 0.154 benign 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1196861126 22q11.21 22 17548618G> A null G S 1089 1089 missense 0.011 benign 0.24 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1392159581 22q11.21 22 17548622C> G null T S 1090 1090 missense 0.003 benign 0.24 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs376045788 22q11.21 22 17548633T> G null F V 1094 1094 missense 0.968 probably damaging 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1215564397 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548636C> T null P S 1095 1095 missense 0.0 benign 0.85 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1034092390 22q11.21 22 17548639C> G null P A 1096 1096 missense 0.656 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs200495617 22q11.21 22 17548640C> T null P L 1096 1096 missense 0.926 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs200495617 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548640C> G null P R 1096 1096 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1375701699 22q11.21 22 17548642C> G null L V 1097 1097 missense 0.371 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1168458563 22q11.21 22 17548646A> G null Y C 1098 1098 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs768952503 22q11.21 22 17548650G> A null M I 1099 1099 missense 0.014 benign 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs183197311 22q11.21 22 17548648A> G null M V 1099 1099 2.0E-4 missense 0.0 benign 0.27 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs760515905 22q11.21 22 17548667C> T null P L 1105 1105 missense 0.46 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs760515905 22q11.21 22 17548667C> G null P R 1105 1105 missense 0.691 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,gnomAD rs374477111 22q11.21 22 17548676C> G null A G 1108 1108 missense 0.018 benign 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs759463259 22q11.21 22 17548681C> T null H Y 1110 1110 missense 0.188 benign 0.18 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs752214014 22q11.21 22 17548688A> T null H L 1112 1112 missense 0.422 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs765095064 22q11.21 22 17548687C> T null H Y 1112 1112 missense 0.475 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs762469533 22q11.21 22 17548690A> G null I V 1113 1113 missense 0.005 benign 0.37 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs763711455 22q11.21 22 17548696C> G null P A 1115 1115 missense 0.283 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs533399275 22q11.21 22 17548700G> A null G D 1116 1116 2.0E-4 missense 0.762 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs767982645 22q11.21 22 17548709G> A null G D 1119 1119 missense 0.444 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs767982645 22q11.21 22 17548709G> T null G V 1119 1119 missense 0.36 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs929498170 22q11.21 22 17548712T> A null V E 1120 1120 missense 0.188 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs920711557 22q11.21 22 17548711G> T null V L 1120 1120 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs531837211 22q11.21 22 17548715G> C null G A 1121 1121 0.002396 missense 0.005 benign 0.23 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1166513454 22q11.21 22 17548714G> A null G S 1121 1121 missense 0.014 benign 0.22 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs909485083 22q11.21 22 17548717C> T null P S 1122 1122 missense 0.03 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1460420258 22q11.21 22 17548724T> C null M T 1124 1124 missense 0.169 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs780449415 22q11.21 22 17548727G> C null G A 1125 1125 missense 0.033 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1373203762 22q11.21 22 17548729G> A null G R 1126 1126 missense 0.541 possibly damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs568504117 22q11.21 22 17548736C> G null S C 1128 1128 2.0E-4 missense 0.41 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs910687886 22q11.21 22 17548745C> T null S F 1131 1131 missense 0.726 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs779273533 22q11.21 22 17548748A> G null H R 1132 1132 missense 0.154 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs748443337 22q11.21 22 17548751C> G null P R 1133 1133 missense 0.467 possibly damaging 0.16 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1308776217 22q11.21 22 17548758T> G null H Q 1135 1135 missense 0.001 benign 0.27 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs771572005 22q11.21 22 17548756C> T null H Y 1135 1135 missense 0.133 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1235658052 22q11.21 22 17548759T> G null F V 1136 1136 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1431703160 22q11.21 22 17548762C> T null P S 1137 1137 missense 0.012 benign 0.16 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,NCI-TCGA,gnomAD rs554572738 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548768A> G null R G 1139 1139 2.0E-4 missense 0.018 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs776423644 22q11.21 22 17548770G> T null R S 1139 1139 missense 0.556 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1039039190 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548771G> A null G S 1140 1140 missense 0.007 benign 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1041053657 22q11.21 22 17548785C> A null N K 1144 1144 missense 0.024 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs914139476 22q11.21 22 17548790C> A null P Q 1146 1146 missense 0.143 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1351661471 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548793A> T null H L 1147 1147 missense 0.374 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs745683899 22q11.21 22 17548802G> A null G D 1150 1150 missense 0.062 benign 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1487293869 22q11.21 22 17548807C> G null P A 1152 1152 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1190004358 22q11.21 22 17548808C> T null P L 1152 1152 missense 0.997 probably damaging 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1487293869 22q11.21 22 17548807C> T null P S 1152 1152 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs777144786 22q11.21 22 17548811G> C null R P 1153 1153 missense 0.809 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs777144786 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548811G> A null R Q 1153 1153 missense 0.022 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs568030540 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548810C> T null R W 1153 1153 5.99E-4 missense 0.828 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200418423 22q11.21 22 17548817G> A null R H 1155 1155 0.005791 missense 0.996 probably damaging 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs369170510 22q11.21 22 17548819C> T null P S 1156 1156 missense 0.588 possibly damaging 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368003991 22q11.21 22 17548823C> A null P Q 1157 1157 3.99E-4 missense 0.001 benign 0.33 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs368003991 22q11.21 22 17548823C> G null P R 1157 1157 3.99E-4 missense 0.036 benign 0.34 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1234552773 22q11.21 22 17548822C> T null P S 1157 1157 missense 0.024 benign 0.61 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs896339915 22q11.21 22 17548825C> A null Q K 1158 1158 missense 0.45 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs766880283 22q11.21 22 17548828G> A null G R 1159 1159 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs200474238 22q11.21 22 17548836G> T null R S 1161 1161 missense 0.057 benign 0.79 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs779081450 22q11.21 22 17548841C> G null S C 1163 1163 missense 0.541 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs779081450 22q11.21 22 17548841C> T null S F 1163 1163 missense 0.467 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs758608780 22q11.21 22 17548844A> C null Y S 1164 1164 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs546113280 22q11.21 22 17548846C> G null H D 1165 1165 2.0E-4 missense 0.006 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs745649897 22q11.21 22 17548847A> C null H P 1165 1165 missense 0.026 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs556528619 22q11.21 22 17548849C> G null P A 1166 1166 2.0E-4 missense 0.022 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs556528619 22q11.21 22 17548849C> T null P S 1166 1166 2.0E-4 missense 0.003 benign 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs556528619 22q11.21 22 17548849C> A null P T 1166 1166 2.0E-4 missense 0.003 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs374388183 22q11.21 22 17548853C> T null P L 1167 1167 missense 0.216 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs767178491 22q11.21 22 17548856C> T null P L 1168 1168 missense 0.563 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs761342382 22q11.21 22 17548855C> T null P S 1168 1168 missense 0.048 benign 0.19 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs959811287 22q11.21 22 17548867T> A null Y N 1172 1172 missense 0.832 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 NCI-TCGA,gnomAD rs551944084 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548874A> G null H R 1174 1174 missense 0.502 possibly damaging 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569159027 22q11.21 22 17548877A> G null Y C 1175 1175 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs377210122 22q11.21 22 17548876T> C null Y H 1175 1175 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs766712311 22q11.21 22 17548879C> G null Q E 1176 1176 missense 0.197 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs754271465 22q11.21 22 17548880A> T null Q L 1176 1176 missense 0.343 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs754271465 22q11.21 22 17548880A> G null Q R 1176 1176 missense 0.419 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1375445153 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548883G> A null R Q 1177 1177 missense 0.033 benign 0.2 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs760057860 22q11.21 22 17548895A> G null Y C 1181 1181 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs760057860 22q11.21 22 17548895A> T null Y F 1181 1181 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs765878345 22q11.21 22 17548897G> C null A P 1182 1182 missense 0.0 benign 0.57 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs765878345 22q11.21 22 17548897G> T null A S 1182 1182 missense 0.0 benign 0.73 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs765878345 22q11.21 22 17548897G> A null A T 1182 1182 missense 0.0 benign 0.95 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC rs758454312 22q11.21 22 17548900T> C null C R 1183 1183 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs369716151 22q11.21 22 17548901G> C null C S 1183 1183 missense 0.991 probably damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs369716151 22q11.21 22 17548901G> A null C Y 1183 1183 missense 0.996 probably damaging 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs751791902 22q11.21 22 17548903C> A null P T 1184 1184 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs755921203 22q11.21 22 17548910G> A null S N 1186 1186 missense 0.0 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs574102509 22q11.21 22 17548912T> C null F L 1187 1187 missense 0.112 benign 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs768539733 22q11.21 22 17548913T> C null F S 1187 1187 missense 0.462 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs574102509 22q11.21 22 17548912T> G null F V 1187 1187 missense 0.214 benign 0.19 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1480677010 22q11.21 22 17548915T> G null S A 1188 1188 missense 0.97 probably damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs773835494 22q11.21 22 17548916C> T null S F 1188 1188 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs539811804 22q11.21 22 17548920C> G null D E 1189 1189 missense 0.05 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201661747 22q11.21 22 17548919A> T null D V 1189 1189 2.0E-4 missense 0.905 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes rs562131493 22q11.21 22 17548923G> T null W C 1190 1190 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1455305012 22q11.21 22 17548925A> G null Q R 1191 1191 missense 0.272 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs771549943 22q11.21 22 17548928G> T null R I 1192 1192 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs772905660 22q11.21 22 17548930C> G null P A 1193 1193 missense 0.049 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs375414804 22q11.21 22 17548931C> G null P R 1193 1193 missense 0.154 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs772905660 22q11.21 22 17548930C> T null P S 1193 1193 missense 0.003 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,gnomAD rs770624477 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548940C> T null P L 1196 1196 missense 0.058 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1355553336 22q11.21 22 17548948A> T null S C 1199 1199 missense 0.781 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1355553336 22q11.21 22 17548948A> G null S G 1199 1199 missense 0.112 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs527746223 22q11.21 22 17548949G> A null S N 1199 1199 9.98E-4 missense 0.006 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs760004505 22q11.21 22 17548956C> A null S R 1201 1201 missense 0.415 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs760004505 22q11.21 22 17548956C> G null S R 1201 1201 missense 0.415 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs763080661 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17548957G> A null G R 1202 1202 missense 0.929 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs945571672 22q11.21 22 17548960C> T null P S 1203 1203 missense 0.001 benign 0.58 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs185630123 22q11.21 22 17548964C> T null P L 1204 1204 2.0E-4 missense 0.012 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1366684764 22q11.21 22 17548963C> T null P S 1204 1204 missense 0.021 benign 0.19 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs560216294 22q11.21 22 17548966G> T null A S 1205 1205 missense 0.024 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1322502713 22q11.21 22 17548979C> G null P R 1209 1209 missense 0.296 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs867661972 22q11.21 22 17548978C> T null P S 1209 1209 missense 0.058 benign 0.24 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199780601 22q11.21 22 17548982C> T null P L 1210 1210 9.98E-4 missense 0.006 benign 0.94 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199780601 22q11.21 22 17548982C> A null P Q 1210 1210 9.98E-4 missense 0.03 benign 0.35 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199780601 22q11.21 22 17548982C> G null P R 1210 1210 9.98E-4 missense 0.386 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs748094620 22q11.21 22 17548981C> A null P T 1210 1210 missense 0.343 benign 0.29 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs770661461 22q11.21 22 17548987A> G null R G 1212 1212 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs200293030 22q11.21 22 17548989G> T null R S 1212 1212 missense 0.991 probably damaging 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1188591297 22q11.21 22 17548991C> G null S C 1213 1213 missense 0.41 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1188591297 22q11.21 22 17548991C> T null S F 1213 1213 missense 0.34 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs770346784 22q11.21 22 17548994T> A null L H 1214 1214 missense 0.635 possibly damaging 0.44 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1461993237 22q11.21 22 17549005A> G null K E 1218 1218 missense 0.141 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs764665700 22q11.21 22 17549010T> A null N K 1219 1219 missense 0.024 benign 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1290405057 22q11.21 22 17549016G> A null M I 1221 1221 missense 0.001 benign 0.39 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1434101865 22q11.21 22 17549014A> G null M V 1221 1221 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs201121617 22q11.21 22 17549017G> A null A T 1222 1222 missense 0.0 benign 0.34 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs754756745 22q11.21 22 17549020A> G null S G 1223 1223 missense 0.0 benign 0.41 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1289782664 22q11.21 22 17549021G> C null S T 1223 1223 missense 0.015 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs764954759 22q11.21 22 17549027A> C null Q P 1225 1225 missense 0.878 possibly damaging 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1348919231 22q11.21 22 17549044A> T null N Y 1231 1231 missense 0.459 possibly damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs758232907 22q11.21 22 17549050G> T null A S 1233 1233 missense 0.021 benign 0.23 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1488278425 22q11.21 22 17549057C> T null T I 1235 1235 missense 0.441 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1488278425 22q11.21 22 17549057C> A null T N 1235 1235 missense 0.598 possibly damaging 0.29 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1192165901 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17549060C> T null S F 1236 1236 missense 0.58 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs199712744 22q11.21 22 17549068C> T null R C 1239 1239 3.99E-4 missense 0.0 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373544152 22q11.21 22 17549069G> A null R H 1239 1239 2.0E-4 missense 0.0 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1255571248 22q11.21 22 17549076T> G null D E 1241 1241 missense 0.003 benign 0.16 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs761083070 22q11.21 22 17549078C> A null A E 1242 1242 missense 0.0 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs780984393 22q11.21 22 17549083G> T null A S 1244 1244 missense 0.007 benign 0.62 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs745572342 22q11.21 22 17549087C> G null A G 1245 1245 missense 0.551 possibly damaging 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs556155269 22q11.21 22 17549089A> G null K E 1246 1246 missense 0.005 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1345585364 22q11.21 22 17549092G> A null V I 1247 1247 missense 0.007 benign 0.18 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs750452899 22q11.21 22 17549095C> T null P S 1248 1248 missense 0.001 benign 0.25 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs769580221 22q11.21 22 17549101G> A null D N 1250 1250 missense 0.156 benign 0.19 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs141354988 22q11.21 22 17549104G> A null G R 1251 1251 2.0E-4 missense 0.773 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs768994928 22q11.21 22 17549117G> A null G D 1255 1255 missense 0.896 possibly damaging 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,TOPMed,gnomAD rs376422746 22q11.21 22 17549119C> T null P S 1256 1256 missense 0.091 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs774969091 22q11.21 22 17549122G> A null E K 1257 1257 missense 0.011 benign 0.12 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs761849356 22q11.21 22 17549133G> C null K N 1260 1260 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs370954909 22q11.21 22 17549135T> C null L P 1261 1261 missense 0.0 benign 0.26 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1214829576 22q11.21 22 17549140G> A null E K 1263 1263 missense 0.836 possibly damaging 0.07 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs773292966 22q11.21 22 17549146A> G null M V 1265 1265 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1486281208 22q11.21 22 17549156C> T null P L 1268 1268 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569159442 22q11.21 22 17549161A> G null S G 1270 1270 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569159444 22q11.21 22 17549168A> G null K R 1272 1272 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1235781204 22q11.21 22 17549189A> G null N S 1279 1279 missense 0.985 probably damaging 0.37 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs897079322 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17549197G> A null A T 1282 1282 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs752389394 22q11.21 22 17549201C> T null A V 1283 1283 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs763909421 22q11.21 22 17549207A> G null K R 1285 1285 missense 0.028 benign 0.21 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs756812363 22q11.21 22 17549210G> A null R Q 1286 1286 missense 0.022 benign 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs751578696 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17549209C> T null R W 1286 1286 missense 0.828 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1204494649 22q11.21 22 17549216G> A null S N 1288 1288 missense 0.001 benign 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1231826643 22q11.21 22 17549222T> G null L W 1290 1290 missense 0.936 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1279784247 22q11.21 22 17549232C> G null S R 1293 1293 missense 0.09 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1238510110 22q11.21 22 17549234A> G null E G 1294 1294 missense 0.476 possibly damaging 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1375676607 22q11.21 22 17549233G> A null E K 1294 1294 missense 0.373 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61735058 22q11.21 22 17549240T> C null L P 1296 1296 3.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs749594416 22q11.21 22 17549243A> G null Y C 1297 1297 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs749594416 22q11.21 22 17549243A> T null Y F 1297 1297 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs769104481 22q11.21 22 17549248A> G null T A 1299 1299 missense 0.0 benign 0.98 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs922228355 22q11.21 22 17549249C> T null T I 1299 1299 missense 0.051 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs769104481 22q11.21 22 17549248A> C null T P 1299 1299 missense 0.0 benign 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs887806595 22q11.21 22 17549255C> T null P L 1301 1301 missense 0.669 possibly damaging 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs887806595 22q11.21 22 17549255C> A null P Q 1301 1301 missense 0.879 possibly damaging 0.06 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1176589220 22q11.21 22 17549257C> T null P S 1302 1302 missense 0.007 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1478206149 22q11.21 22 17549264G> A null S N 1304 1304 missense 0.272 benign 0.23 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1171958252 22q11.21 22 17549267C> T null S L 1305 1305 missense 0.073 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs748597487 22q11.21 22 17549270G> A null G E 1306 1306 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1422904426 22q11.21 22 17549269G> A null G R 1306 1306 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs772574374 22q11.21 22 17549275G> A null G R 1308 1308 missense 0.299 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1444092068 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17549285C> T null S L 1311 1311 missense 0.343 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1399142285 22q11.21 22 17549284T> C null S P 1311 1311 missense 0.003 benign 0.47 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1273599103 22q11.21 22 17549299C> T null P S 1316 1316 missense 0.003 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs987519738 22q11.21 22 17549305A> T null S C 1318 1318 missense 0.41 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs987519738 22q11.21 22 17549305A> G null S G 1318 1318 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1372165990 22q11.21 22 17549308G> A null V M 1319 1319 missense 0.054 benign 0.13 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs370812487 22q11.21 22 17549313G> T null M I 1320 1320 missense 0.23 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs752557801 22q11.21 22 17549312T> A null M K 1320 1320 missense 0.715 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs776956929 22q11.21 22 17549315T> C null L P 1321 1321 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs762655275 22q11.21 22 17549319G> T null Q H 1322 1322 missense 0.001 benign 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,gnomAD rs764004218 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17549321C> T null T M 1323 1323 missense 0.549 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1451980499 22q11.21 22 17549324G> A null G E 1324 1324 missense 0.762 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373901873 22q11.21 22 17549333A> G null Y C 1327 1327 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373901873 22q11.21 22 17549333A> T null Y F 1327 1327 2.0E-4 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373901873 22q11.21 22 17549333A> C null Y S 1327 1327 2.0E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1463566616 22q11.21 22 17549339C> T null P L 1329 1329 missense 0.541 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs753592652 22q11.21 22 17549338C> T null P S 1329 1329 missense 0.018 benign 0.44 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs966965861 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17549345G> A null R Q 1331 1331 missense 0.003 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs367797204 22q11.21 22 17549344C> T null R W 1331 1331 missense 0.549 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs748544634 22q11.21 22 17549348C> T null P L 1332 1332 missense 0.163 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs779270148 22q11.21 22 17549347C> T null P S 1332 1332 missense 0.007 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs747064235 22q11.21 22 17549353A> G null S G 1334 1334 missense 0.006 benign 0.6 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1316177455 22q11.21 22 17549368A> G null R G 1339 1339 missense 0.129 benign 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs776700328 22q11.21 22 17549375A> G null Y C 1341 1341 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs576373100 22q11.21 22 17549381C> G null S C 1343 1343 2.0E-4 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs371599329 22q11.21 22 17549380T> A null S T 1343 1343 missense 0.98 probably damaging 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1448463762 22q11.21 22 17549386G> A null V M 1345 1345 missense 0.003 benign 0.58 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1310725114 22q11.21 22 17549390C> A null A D 1346 1346 missense 0.086 benign 0.34 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs895744714 22q11.21 22 17549389G> A null A T 1346 1346 missense 0.058 benign 0.46 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1476560676 22q11.21 22 17549393C> G null A G 1347 1347 missense 0.133 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1446883743 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17549392G> A null A T 1347 1347 missense 0.003 benign 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376337845 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17549395C> T null L F 1348 1348 missense 0.0 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1457070970 22q11.21 22 17549398C> T null P S 1349 1349 missense 0.598 possibly damaging 0.26 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569159713 22q11.21 22 17549401C> T null P S 1350 1350 missense 0.018 benign 0.51 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs886856170 22q11.21 22 17549409C> A null H Q 1352 1352 missense 0.276 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs760099100 22q11.21 22 17549416G> C null A P 1355 1355 missense 0.009 benign 0.22 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs760099100 22q11.21 22 17549416G> A null A T 1355 1355 missense 0.01 benign 0.23 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1005291382 22q11.21 22 17549417C> T null A V 1355 1355 missense 0.018 benign 0.15 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs990491172 22q11.21 22 17549419A> G null T A 1356 1356 missense 0.0 benign 1.0 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs765858692 22q11.21 22 17549425C> A null P T 1358 1358 missense 0.255 benign 0.1 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs199653481 22q11.21 22 17549428A> G null N D 1359 1359 missense 0.985 probably damaging 0.09 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs753040424 22q11.21 22 17549432G> A null G D 1360 1360 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs778560536 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17549431G> A null G S 1360 1360 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1036842182 22q11.21 22 17549434C> T null L F 1361 1361 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs896963419 22q11.21 22 17549438C> G null S C 1362 1362 missense 0.72 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1445005578 22q11.21 22 17549441A> G null Q R 1363 1363 missense 0.107 benign 0.18 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201289040 22q11.21 22 17549446G> A null G S 1365 1365 0.001198 missense 0.115 benign 0.24 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs778252121 22q11.21 22 17549449C> T null P S 1366 1366 missense 0.012 benign 0.14 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1331092102 22q11.21 22 17549452A> G null I V 1367 1367 missense 0.0 benign 0.36 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1216993166 22q11.21 22 17549456A> G null Y C 1368 1368 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1216993166 22q11.21 22 17549456A> T null Y F 1368 1368 missense 0.985 probably damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs747575846 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17549458C> T null R C 1369 1369 missense 0.005 benign 0.03 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs555429495 22q11.21 22 17549459G> A null R H 1369 1369 2.0E-4 missense 0.005 benign 0.18 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs74478545 22q11.21 22 17549471A> G null E G 1373 1373 missense 0.631 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1422680675 22q11.21 22 17549474G> T null G V 1374 1374 missense 0.77 possibly damaging 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs781261885 22q11.21 22 17549477T> G null L R 1375 1375 missense 0.564 possibly damaging 0.11 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs745963082 22q11.21 22 17549495T> C null V A 1381 1381 missense 0.0 benign 0.05 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1359228518 22q11.21 22 17549499G> A null M I 1382 1382 missense 0.021 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs368285423 22q11.21 22 17549497A> G null M V 1382 1382 missense 0.001 benign 0.04 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs572451277 22q11.21 22 17549502G> A null M I 1383 1383 2.0E-4 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1303885505 22q11.21 22 17549503G> T null E * 1384 1384 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1303885505 22q11.21 22 17549503G> A null E K 1384 1384 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs889696976 22q11.21 22 17549507A> G null Q R 1385 1385 missense 0.086 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs764067017 22q11.21 22 17549525G> C null G A 1391 1391 missense 0.997 probably damaging 0.05 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1309434147 22q11.21 22 17549524G> A null G R 1391 1391 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,gnomAD rs138071985 22q11.21 22 17549527A> G null I V 1392 1392 2.0E-4 missense 0.011 benign 0.4 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1458274478 22q11.21 22 17549530A> G null R G 1393 1393 missense 0.001 benign 0.35 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1308225234 22q11.21 22 17549531G> A null R K 1393 1393 missense 0.15 benign 0.59 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs372202363 22q11.21 22 17549534G> A null G E 1394 1394 missense 0.843 possibly damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs766259622 22q11.21 22 17549536C> A null P T 1395 1395 missense 0.115 benign 0.02 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs776160800 22q11.21 22 17549540T> C null F S 1396 1396 missense 0.013 benign 0.61 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs757103102 22q11.21 22 17549545G> T null E * 1398 1398 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs757103102 22q11.21 22 17549545G> A null E K 1398 1398 missense 0.115 benign 0.01 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1252311623 22q11.21 22 17549550G> T null M I 1399 1399 missense 0.001 benign 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1252311623 22q11.21 22 17549550G> A null M I 1399 1399 missense 0.001 benign 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs759019713 22q11.21 22 17549551T> C null Y H 1400 1400 missense 0.018 benign 0.05 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs764840527 22q11.21 22 17549552A> C null Y S 1400 1400 missense 0.444 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs752417080 22q11.21 22 17549554A> T null R * 1401 1401 stop gained 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs758752683 22q11.21 22 17549555G> T null R I 1401 1401 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs531686511 22q11.21 22 17549556A> C null R S 1401 1401 missense 0.991 probably damaging 0.08 tolerated 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1377499474 22q11.21 22 17549557C> G null P A 1402 1402 missense 0.112 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1466244307 22q11.21 22 17549558C> T null P L 1402 1402 missense 0.212 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142851999 22q11.21 22 17549561C> T null S L 1403 1403 9.98E-4 missense 0.058 benign 0.0 deleterious 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs780223716 22q11.21 22 17552033T> C null M T 1405 1405 missense 0.026 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1353024710 22q11.21 22 17552036A> C null Q P 1406 1406 missense 0.368 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1479951265 22q11.21 22 17552041C> T null H Y 1408 1408 missense 0.572 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1320302167 22q11.21 22 17552045C> T null P L 1409 1409 missense 0.063 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1288657320 22q11.21 22 17552044C> A null P T 1409 1409 missense 0.06 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 Ensembl rs1569161553 22q11.21 22 17552047G> T null V F 1410 1410 missense 0.234 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs368452369 22q11.21 22 17552052G> T null Q H 1411 1411 missense 0.007 benign 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs938553668 22q11.21 22 17552054C> T null S L 1412 1412 missense 0.062 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1223193269 22q11.21 22 17552056C> G null Q E 1413 1413 missense 0.054 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1239306811 22q11.21 22 17552059G> T null A S 1414 1414 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,NCI-TCGA,gnomAD rs536749791 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 22q11.21 22 17552063C> T null S L 1415 1415 2.0E-4 missense 0.003 benign 0.19 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs200761402 22q11.21 22 17552071A> G null K E 1418 1418 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374889016 22q11.21 22 17552077C> G null P A 1420 1420 2.0E-4 missense 0.368 benign 0.01 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC rs767828651 22q11.21 22 17552078C> T null P L 1420 1420 missense 0.655 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374889016 22q11.21 22 17552077C> T null P S 1420 1420 2.0E-4 missense 0.07 benign 0.05 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1038790936 22q11.21 22 17552081C> T null T I 1421 1421 missense 0.036 benign 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1038790936 22q11.21 22 17552081C> G null T R 1421 1421 missense 0.092 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs750813328 22q11.21 22 17552089A> G null T A 1424 1424 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs750813328 22q11.21 22 17552089A> C null T P 1424 1424 missense 0.068 benign 0.11 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1283250524 22q11.21 22 17552100G> C null E D 1427 1427 missense 0.006 benign 0.07 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs753946031 22q11.21 22 17552098G> A null E K 1427 1427 missense 0.006 benign 0.06 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,TOPMed,gnomAD rs755151173 22q11.21 22 17552103G> T null E D 1428 1428 missense 0.003 benign 0.45 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1216064222 22q11.21 22 17552105T> C null V A 1429 1429 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs779194271 22q11.21 22 17552104G> A null V M 1429 1429 missense 0.006 benign 0.07 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181553013 22q11.21 22 17552108C> T null P L 1430 1430 7.99E-4 missense 0.181 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC,gnomAD rs745689692 22q11.21 22 17552111C> T null P L 1431 1431 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed,gnomAD rs1341077800 22q11.21 22 17552113C> T null H Y 1432 1432 missense 0.265 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs559217085 22q11.21 22 17552119C> G null P A 1434 1434 2.0E-4 missense 0.003 benign 0.03 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 1000Genomes,ExAC,gnomAD rs559217085 22q11.21 22 17552119C> T null P S 1434 1434 2.0E-4 missense 0.005 benign 0.02 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs200210475 22q11.21 22 17552122C> T null P S 1435 1435 missense 0.018 benign 0.43 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ExAC rs774038355 22q11.21 22 17552125A> G null T A 1436 1436 missense 0.003 benign 0.52 tolerated - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 TOPMed rs1199876485 22q11.21 22 17552126C> T null T I 1436 1436 missense 0.051 benign 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1180325318 22q11.21 22 17552128C> T null L F 1437 1437 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs200479711 22q11.21 22 17552132C> A null P H 1438 1438 missense 0.831 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 ESP,ExAC,TOPMed,gnomAD rs200479711 22q11.21 22 17552132C> T null P L 1438 1438 missense 0.563 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1156753166 22q11.21 22 17552137G> T null D Y 1440 1440 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A087WT21 CECR2 Cat eye syndrome critical region protein 2 gnomAD rs1436415386 22q11.21 22 17552836G> A null S N 1442 1442 missense 0.979 probably damaging 0.03 deleterious - low confidence 0 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs863223301 [ClinVar]: Osteosarcoma, [ClinVar]: Choroid plexus papilloma pubmed:12085209 17p13.1 17 7675131_7675137du p null A null 2 2 frameshift 0 Choroid plexus papilloma (CPP) MIM:260500 ClinVar:RCV000013179 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs863223301 [ClinVar]: Osteosarcoma, [ClinVar]: Choroid plexus papilloma pubmed:12085209 17p13.1 17 7675131_7675137du p null A null 2 2 frameshift 0 Osteosarcoma MIM:259500 ClinVar:RCV000013180 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064795691 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11590071,pubmed:1347094,pubmed:15924253,pubmed:16322298,pubmed:17683074,pubmed:21103049,pubmed:22941188,cosmic_study:331,cosmic_study:423,pubmed:9546366 17p13.1 17 7675130G> T null A D 2 2 missense 0.983 probably damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000552464 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs193920817 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: peritoneum, [Cosmic]: meninges, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10029095,pubmed:10391558,pubmed:10674608,pubmed:10735894,pubmed:11004672,pubmed:11044641,pubmed:11110050,pubmed:11191353,pubmed:11325447,pubmed:11406538,pubmed:11857392,pubmed:12115559,pubmed:12509970,pubmed:12532420,pubmed:12824925,pubmed:12870229,pubmed:14688025,pubmed:15073856,pubmed:15523690,pubmed:15564288,pubmed:15956964,pubmed:16061860,pubmed:16151725,pubmed:16827139,pubmed:17949449,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:22158988,pubmed:22705117,pubmed:22923510,pubmed:23265383,pubmed:23396385,pubmed:24797764,cosmic_study:338,cosmic_study:341,cosmic_study:376,cosmic_study:382,cosmic_study:393,cosmic_study:413,cosmic_study:414,cosmic_study:434,cosmic_study:450,cosmic_study:459,cosmic_study:585,pubmed:7651727,pubmed:7657383,pubmed:8180387,pubmed:8293408,pubmed:8408453,pubmed:8542583,pubmed:9052405,pubmed:9056896,pubmed:9450908 17p13.1 17 7675131C> T null A T 2 2 missense 0.944 probably damaging 0.04 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214033 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs193920817 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: peritoneum, [Cosmic]: meninges, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10029095,pubmed:10391558,pubmed:10674608,pubmed:10735894,pubmed:11004672,pubmed:11044641,pubmed:11110050,pubmed:11191353,pubmed:11325447,pubmed:11406538,pubmed:11857392,pubmed:12115559,pubmed:12509970,pubmed:12532420,pubmed:12824925,pubmed:12870229,pubmed:14688025,pubmed:15073856,pubmed:15523690,pubmed:15564288,pubmed:15956964,pubmed:16061860,pubmed:16151725,pubmed:16827139,pubmed:17949449,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:22158988,pubmed:22705117,pubmed:22923510,pubmed:23265383,pubmed:23396385,pubmed:24797764,cosmic_study:338,cosmic_study:341,cosmic_study:376,cosmic_study:382,cosmic_study:393,cosmic_study:413,cosmic_study:414,cosmic_study:434,cosmic_study:450,cosmic_study:459,cosmic_study:585,pubmed:7651727,pubmed:7657383,pubmed:8180387,pubmed:8293408,pubmed:8408453,pubmed:8542583,pubmed:9052405,pubmed:9056896,pubmed:9450908 17p13.1 17 7675131C> T null A T 2 2 missense 0.944 probably damaging 0.04 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000473543 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs193920817 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: peritoneum, [Cosmic]: meninges, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10029095,pubmed:10391558,pubmed:10674608,pubmed:10735894,pubmed:11004672,pubmed:11044641,pubmed:11110050,pubmed:11191353,pubmed:11325447,pubmed:11406538,pubmed:11857392,pubmed:12115559,pubmed:12509970,pubmed:12532420,pubmed:12824925,pubmed:12870229,pubmed:14688025,pubmed:15073856,pubmed:15523690,pubmed:15564288,pubmed:15956964,pubmed:16061860,pubmed:16151725,pubmed:16827139,pubmed:17949449,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:22158988,pubmed:22705117,pubmed:22923510,pubmed:23265383,pubmed:23396385,pubmed:24797764,cosmic_study:338,cosmic_study:341,cosmic_study:376,cosmic_study:382,cosmic_study:393,cosmic_study:413,cosmic_study:414,cosmic_study:434,cosmic_study:450,cosmic_study:459,cosmic_study:585,pubmed:7651727,pubmed:7657383,pubmed:8180387,pubmed:8293408,pubmed:8408453,pubmed:8542583,pubmed:9052405,pubmed:9056896,pubmed:9450908 17p13.1 17 7675131C> T null A T 2 2 missense 0.944 probably damaging 0.04 deleterious 1 Malignant tumor of prostate MIM:176807 pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000149053 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs193920817 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: peritoneum, [Cosmic]: meninges, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10029095,pubmed:10391558,pubmed:10674608,pubmed:10735894,pubmed:11004672,pubmed:11044641,pubmed:11110050,pubmed:11191353,pubmed:11325447,pubmed:11406538,pubmed:11857392,pubmed:12115559,pubmed:12509970,pubmed:12532420,pubmed:12824925,pubmed:12870229,pubmed:14688025,pubmed:15073856,pubmed:15523690,pubmed:15564288,pubmed:15956964,pubmed:16061860,pubmed:16151725,pubmed:16827139,pubmed:17949449,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:22158988,pubmed:22705117,pubmed:22923510,pubmed:23265383,pubmed:23396385,pubmed:24797764,cosmic_study:338,cosmic_study:341,cosmic_study:376,cosmic_study:382,cosmic_study:393,cosmic_study:413,cosmic_study:414,cosmic_study:434,cosmic_study:450,cosmic_study:459,cosmic_study:585,pubmed:7651727,pubmed:7657383,pubmed:8180387,pubmed:8293408,pubmed:8408453,pubmed:8542583,pubmed:9052405,pubmed:9056896,pubmed:9450908 17p13.1 17 7675131C> T null A T 2 2 missense 0.944 probably damaging 0.04 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785328 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587780069 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: oesophagus, [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation pubmed:10753204,pubmed:11180073,pubmed:11375957,pubmed:15533223,pubmed:22561517,cosmic_study:396 17p13.1 17 7675127A> C null I S 3 3 missense 0.777 possibly damaging 0.05 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597370312 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7675123_7675126delinsACAAGCAGTCTAC A null Y null 4 4 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001023164 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567553246 cosmic curated [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10348818,pubmed:10802655,pubmed:11801555,pubmed:18772397,cosmic_study:322,cosmic_study:332,pubmed:7674088,pubmed:8392033 17p13.1 17 7675123G> C null Y * 4 4 missense 1 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Carcinoma of esophagus ClinVar:RCV000435593 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000419946 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492788 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000526324 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000434917 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000434251 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Neoplasm of brain ClinVar:RCV000443742 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000430191 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000419252 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785334 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000442798 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000429510 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000424864 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000443833 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000423543 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs148924904 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: salivary_gland, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074 pubmed:10071127,pubmed:10427138,pubmed:10567903,pubmed:10607740,pubmed:10671690,pubmed:10674608,pubmed:10690522,pubmed:10693987,pubmed:10735894,pubmed:10753186,cosmic_study:11,pubmed:11141476,pubmed:11221842,pubmed:11384100,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:11923604,pubmed:12115559,pubmed:12144684,pubmed:12447671,pubmed:12648581,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:15017592,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15702478,pubmed:15761872,pubmed:15915369,pubmed:16287491,pubmed:16416221,pubmed:16459017,pubmed:16959974,pubmed:17692090,pubmed:18948947,pubmed:20668451,pubmed:21493686,pubmed:21559688,pubmed:21720365,pubmed:21798893,pubmed:21822268,pubmed:22286061,pubmed:22493262,pubmed:22675565,pubmed:22722201,pubmed:22877736,pubmed:22941189,pubmed:22980975,pubmed:23026641,pubmed:23563269,pubmed:23788652,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:349,cosmic_study:35,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:399,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:425,cosmic_study:431,cosmic_study:448,cosmic_study:478,cosmic_study:527,cosmic_study:548,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7767983,pubmed:7981076,pubmed:8033152,pubmed:8119770,pubmed:8137263,pubmed:8306343,pubmed:8392033,pubmed:8569192,pubmed:8625484,pubmed:8655704,pubmed:8664051,pubmed:8761369,pubmed:8934544,pubmed:8956789,pubmed:9043035,pubmed:9120719,pubmed:9218731,pubmed:9470817,pubmed:9650746,pubmed:9665415,pubmed:9683299,pubmed:9683822,pubmed:9815649,pubmed:9815901,pubmed:9823556,pubmed:9846966 17p13.1 17 7675124T> C null Y C 4 4 missense 0.979 probably damaging 0.03 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000427698 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000434903 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000420721 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166739 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000424608 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000425235 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000432709 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000426124 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000430982 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000444147 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000441262 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000417885 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000433509 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000443587 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786203436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11180073,pubmed:22622578,pubmed:22817889,pubmed:22891273,cosmic_study:388,cosmic_study:417,cosmic_study:444,cosmic_study:457 17p13.1 17 7675125A> C null Y D 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000420162 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000418221 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000440924 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001023195 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001071488 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000436639 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000423893 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000435900 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000425645 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000438678 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000417511 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000434193 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000428451 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000441609 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000418859 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:11231481,pubmed:1327523,pubmed:14962108,pubmed:15073856,pubmed:15221786,pubmed:15541116,pubmed:16461462,pubmed:17437012,pubmed:21720365,cosmic_study:331,cosmic_study:417,pubmed:8402617,pubmed:8407553,pubmed:8467510,pubmed:9162193,pubmed:9218731,pubmed:9683822 17p13.1 17 7675125A> G null Y H 4 4 missense 0.979 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000423239 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000428833 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000421406 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633347 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000437297 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000431660 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000434430 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000439053 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000424159 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000426404 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000422095 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000444003 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000443298 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000439742 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203436 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10589767,pubmed:10998080,pubmed:11358811,pubmed:15956964,pubmed:17410283,pubmed:21720365,pubmed:22634756,cosmic_study:323,cosmic_study:331,cosmic_study:403,cosmic_study:582,pubmed:8509216,pubmed:8655704,pubmed:8826941,pubmed:9288052,pubmed:9796697 17p13.1 17 7675125A> T null Y N 4 4 missense 0.997 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000427021 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs879254249 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:1317462,pubmed:15221786,pubmed:15492791,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:18772890,pubmed:21720365,pubmed:23917401,cosmic_study:329,cosmic_study:331,cosmic_study:414,cosmic_study:473,cosmic_study:552,pubmed:8020137,pubmed:8934544,pubmed:9270015 17p13.1 17 7675122T> C null K E 5 5 missense 0.709 possibly damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000541487 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1131691034 cosmic curated [Cosmic]: breast, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10709097,pubmed:16696020,pubmed:17917588,pubmed:23033341,cosmic_study:456,pubmed:9796697 17p13.1 17 7675120C> G null K N 5 5 missense 0.886 possibly damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492698 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567553215 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7675119_7675120delinsA G null K N* 5 6 stop gained 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000703049 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10091733,pubmed:10492244,pubmed:10690522,pubmed:11044641,pubmed:11251174,pubmed:11291068,pubmed:11704866,pubmed:11753042,pubmed:11929815,pubmed:11960918,pubmed:12203794,pubmed:14962108,pubmed:15761872,pubmed:16007576,pubmed:21665242,pubmed:22609129,pubmed:22877736,pubmed:23407552,cosmic_study:328,cosmic_study:448,cosmic_study:582,cosmic_study:585,pubmed:7730141,pubmed:8119770,pubmed:8306343,pubmed:8467510,pubmed:8625484,pubmed:8781571,pubmed:9815858 17p13.1 17 7675119G> A null Q * 6 6 missense 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219202 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10091733,pubmed:10492244,pubmed:10690522,pubmed:11044641,pubmed:11251174,pubmed:11291068,pubmed:11704866,pubmed:11753042,pubmed:11929815,pubmed:11960918,pubmed:12203794,pubmed:14962108,pubmed:15761872,pubmed:16007576,pubmed:21665242,pubmed:22609129,pubmed:22877736,pubmed:23407552,cosmic_study:328,cosmic_study:448,cosmic_study:582,cosmic_study:585,pubmed:7730141,pubmed:8119770,pubmed:8306343,pubmed:8467510,pubmed:8625484,pubmed:8781571,pubmed:9815858 17p13.1 17 7675119G> A null Q * 6 6 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633373 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10091733,pubmed:10492244,pubmed:10690522,pubmed:11044641,pubmed:11251174,pubmed:11291068,pubmed:11704866,pubmed:11753042,pubmed:11929815,pubmed:11960918,pubmed:12203794,pubmed:14962108,pubmed:15761872,pubmed:16007576,pubmed:21665242,pubmed:22609129,pubmed:22877736,pubmed:23407552,cosmic_study:328,cosmic_study:448,cosmic_study:582,cosmic_study:585,pubmed:7730141,pubmed:8119770,pubmed:8306343,pubmed:8467510,pubmed:8625484,pubmed:8781571,pubmed:9815858 17p13.1 17 7675119G> A null Q * 6 6 missense 1 Lip and oral cavity carcinoma ClinVar:RCV001255634 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10091733,pubmed:10492244,pubmed:10690522,pubmed:11044641,pubmed:11251174,pubmed:11291068,pubmed:11704866,pubmed:11753042,pubmed:11929815,pubmed:11960918,pubmed:12203794,pubmed:14962108,pubmed:15761872,pubmed:16007576,pubmed:21665242,pubmed:22609129,pubmed:22877736,pubmed:23407552,cosmic_study:328,cosmic_study:448,cosmic_study:582,cosmic_study:585,pubmed:7730141,pubmed:8119770,pubmed:8306343,pubmed:8467510,pubmed:8625484,pubmed:8781571,pubmed:9815858 17p13.1 17 7675119G> A null Q * 6 6 missense 1 Ovarian Neoplasms ClinVar:RCV000785484 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882001 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7675119G> T null Q K 6 6 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573450 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597370222 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7675115_7675117de l null S null 7 7 inframe deletion 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000798178 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555526101 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10389750,pubmed:10564952,pubmed:10690522,pubmed:11309337,pubmed:11325447,pubmed:11595686,pubmed:15564288,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16461462,pubmed:21559688,pubmed:22980975,cosmic_study:417,cosmic_study:431,pubmed:8080737,pubmed:8888799,pubmed:9416838 17p13.1 17 7675115G> C null S * 7 7 missense 1 Ovarian Neoplasms ClinVar:RCV000785317 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555526101 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10392633,pubmed:11896204,pubmed:1348931,cosmic_study:376,pubmed:9416838 17p13.1 17 7675115G> A null S L 7 7 missense 0.005 benign 0.27 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633333 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597370230 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7675115_7675131du p null Q null 8 8 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001023096 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555526097 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10589767,pubmed:11044641,pubmed:11191353,pubmed:11309337,pubmed:11325447,pubmed:1324794,pubmed:15057748,pubmed:15305417,pubmed:15643509,pubmed:15761872,pubmed:16177957,pubmed:17259658,pubmed:17573896,pubmed:17982662,pubmed:21798893,pubmed:21901162,pubmed:23384396,cosmic_study:349,cosmic_study:414,cosmic_study:417,cosmic_study:582,pubmed:7767998,pubmed:7872723,pubmed:9043035,pubmed:9761125 17p13.1 17 7675113G> A null Q * 8 8 missense 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001023383 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555526097 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10589767,pubmed:11044641,pubmed:11191353,pubmed:11309337,pubmed:11325447,pubmed:1324794,pubmed:15057748,pubmed:15305417,pubmed:15643509,pubmed:15761872,pubmed:16177957,pubmed:17259658,pubmed:17573896,pubmed:17982662,pubmed:21798893,pubmed:21901162,pubmed:23384396,cosmic_study:349,cosmic_study:414,cosmic_study:417,cosmic_study:582,pubmed:7767998,pubmed:7872723,pubmed:9043035,pubmed:9761125 17p13.1 17 7675113G> A null Q * 8 8 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633353 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555526097 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10589767,pubmed:11044641,pubmed:11191353,pubmed:11309337,pubmed:11325447,pubmed:1324794,pubmed:15057748,pubmed:15305417,pubmed:15643509,pubmed:15761872,pubmed:16177957,pubmed:17259658,pubmed:17573896,pubmed:17982662,pubmed:21798893,pubmed:21901162,pubmed:23384396,cosmic_study:349,cosmic_study:414,cosmic_study:417,cosmic_study:582,pubmed:7767998,pubmed:7872723,pubmed:9043035,pubmed:9761125 17p13.1 17 7675113G> A null Q * 8 8 missense 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663165 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567553148 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17p13.1 17 7675111de l null Q H 8 8 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000686348 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs1319163924 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7675112T> G null Q P 8 8 missense 0.232 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580182 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs1319163924 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7675112T> G null Q P 8 8 missense 0.232 benign 0.0 deleterious 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001044519 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1319163924 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7675112T> C null Q R 8 8 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000808805 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs867114783 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:10690522,pubmed:11306496,pubmed:11494027,pubmed:12144684,pubmed:1347252,pubmed:15643509,cosmic_study:328,cosmic_study:585,pubmed:7585578,pubmed:8306343,pubmed:8934544,pubmed:9052405,pubmed:9460999 17p13.1 17 7675109T> C null H R 9 9 missense 0.228 benign 0.01 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492442 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs867114783 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:10690522,pubmed:11306496,pubmed:11494027,pubmed:12144684,pubmed:1347252,pubmed:15643509,cosmic_study:328,cosmic_study:585,pubmed:7585578,pubmed:8306343,pubmed:8934544,pubmed:9052405,pubmed:9460999 17p13.1 17 7675109T> C null H R 9 9 missense 0.228 benign 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000702915 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567553114 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7675106A> C null M R 10 10 missense 0.001 benign 0.0 deleterious 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000689187 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555526082 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7675102_7675105de l null T null 11 11 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567372 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555526082 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7675102_7675105de l null T null 11 11 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001226822 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587780729 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: skin, [UniProt]: sporadic cancers; somatic mutation pubmed:9349508 17p13.1 17 7675104T> C null T A 11 11 missense 0.003 benign 0.57 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000123097 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs779000871 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10029095,pubmed:11161397,pubmed:14962108,pubmed:16024113,pubmed:1945416,pubmed:8151121,pubmed:8180387 17p13.1 17 7675103G> A null T M 11 11 missense 0.237 benign 0.1 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163119 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs779000871 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10029095,pubmed:11161397,pubmed:14962108,pubmed:16024113,pubmed:1945416,pubmed:8151121,pubmed:8180387 17p13.1 17 7675103G> A null T M 11 11 missense 0.237 benign 0.1 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000206777 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs779000871 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10029095,pubmed:11161397,pubmed:14962108,pubmed:16024113,pubmed:1945416,pubmed:8151121,pubmed:8180387 17p13.1 17 7675103G> A null T M 11 11 missense 0.237 benign 0.1 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662787 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs779000871 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7675103G> C null T R 11 11 missense 0.154 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580691 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597370110 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7675102_7675103du p null E null 12 12 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000793362 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781845 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10637254,pubmed:10802655,pubmed:11801555,pubmed:12032228,pubmed:15305417,pubmed:17849424,pubmed:1923503,pubmed:21559688,pubmed:22980975,cosmic_study:375,cosmic_study:417,cosmic_study:431,pubmed:8338955 17p13.1 17 7675101C> A null E * 12 12 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000792928 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781845 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10637254,pubmed:10802655,pubmed:11801555,pubmed:12032228,pubmed:15305417,pubmed:17849424,pubmed:1923503,pubmed:21559688,pubmed:22980975,cosmic_study:375,cosmic_study:417,cosmic_study:431,pubmed:8338955 17p13.1 17 7675101C> A null E * 12 12 missense 1 Ovarian Neoplasms ClinVar:RCV000785509 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781845 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: stomach, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10084308,pubmed:10951339,pubmed:11161397,pubmed:11896204,pubmed:12167102,cosmic_study:413,pubmed:7743473,pubmed:8242638,pubmed:9796697 17p13.1 17 7675101C> T null E K 12 12 missense 0.268 benign 0.04 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130145 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781845 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: stomach, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10084308,pubmed:10951339,pubmed:11161397,pubmed:11896204,pubmed:12167102,cosmic_study:413,pubmed:7743473,pubmed:8242638,pubmed:9796697 17p13.1 17 7675101C> T null E K 12 12 missense 0.268 benign 0.04 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000168226 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1131691021 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate pubmed:11011123,pubmed:15643509 17p13.1 17 7675097A> G null V A 13 13 missense 0.837 possibly damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633341 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1131691043 cosmic curated [Cosmic]: breast, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: ovary, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11044641,pubmed:11282486,pubmed:11704866,pubmed:12807758,pubmed:15702478,pubmed:15802015,pubmed:16007576,pubmed:16818855,pubmed:21103049,pubmed:22493262,pubmed:22980975,cosmic_study:382,cosmic_study:431,cosmic_study:582,cosmic_study:585,pubmed:8688317 17p13.1 17 7675098C> A null V F 13 13 missense 0.949 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492688 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1131691043 cosmic curated [Cosmic]: breast, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: ovary, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11044641,pubmed:11282486,pubmed:11704866,pubmed:12807758,pubmed:15702478,pubmed:15802015,pubmed:16007576,pubmed:16818855,pubmed:21103049,pubmed:22493262,pubmed:22980975,cosmic_study:382,cosmic_study:431,cosmic_study:582,cosmic_study:585,pubmed:8688317 17p13.1 17 7675098C> A null V F 13 13 missense 0.949 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1131691021 NCI-TCGA Cosmic [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation pubmed:10674608,pubmed:24140581,cosmic_study:548,pubmed:8108145,pubmed:9699537 17p13.1 17 7675097A> C null V G 13 13 missense 0.916 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492745 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1131691043 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7675098C> T null V I 13 13 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001023618 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs786202514 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7675097_7675101du p null V null 14 14 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165358 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555526064 17p13.1 17 7675096_7675099du p null V null 14 14 frameshift 0 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000426247 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000438619 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000419648 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000421990 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000438785 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775880 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001237773 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000445170 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000436282 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000428561 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000420982 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000437553 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000430991 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000420735 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000432237 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000437348 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:12001123,pubmed:15541116,pubmed:17881637,pubmed:22844452,cosmic_study:322,pubmed:7615358,pubmed:8073440,pubmed:8824725 17p13.1 17 7675094A> G null V A 14 14 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000439921 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000435883 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000419351 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000437139 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000420346 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574130 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000443047 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000431387 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000425654 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000430605 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000425882 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000442089 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000437016 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000430481 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000421130 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1647768,pubmed:22877736,cosmic_study:322,cosmic_study:448 17p13.1 17 7675094A> T null V E 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000441782 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000421182 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000441241 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000424145 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000426044 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000429875 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000807434 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000430527 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000419153 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000432754 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000429147 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000432060 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000437220 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000441421 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000418455 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000421399 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519747 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962443,pubmed:11704866,pubmed:12972634,pubmed:18772890,pubmed:20404136,cosmic_study:329,cosmic_study:375,cosmic_study:473,pubmed:9921983 17p13.1 17 7675094A> C null V G 14 14 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000445056 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000440549 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000443390 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Carcinoma of esophagus ClinVar:RCV000427345 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000442009 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000694763 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000417683 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000421780 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000429213 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Neoplasm of brain ClinVar:RCV000433209 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000423312 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000438383 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785539 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000428483 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000432458 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000439916 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10802655,pubmed:10850436,pubmed:11044641,pubmed:11185887,pubmed:11297255,pubmed:11309337,pubmed:11333292,pubmed:11590071,pubmed:11881786,pubmed:11895856,pubmed:12176791,pubmed:12370756,pubmed:1324794,pubmed:1348931,pubmed:15064998,pubmed:15154647,pubmed:15564288,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:17079356,pubmed:1923532,pubmed:1979160,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21901162,pubmed:22470196,pubmed:22622578,pubmed:22941188,pubmed:22980975,pubmed:23619168,pubmed:24375041,cosmic_study:331,cosmic_study:343,cosmic_study:349,cosmic_study:388,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:561,cosmic_study:582,pubmed:7633655,pubmed:7707106,pubmed:8044781,pubmed:8093350,pubmed:8180965,pubmed:8392033,pubmed:8640736,pubmed:8909247,pubmed:9099970,pubmed:9113074,pubmed:9460999,pubmed:9683299 17p13.1 17 7675095C> A null V L 14 14 missense 0.908 possibly damaging 0.03 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000434691 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000441217 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000434638 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Carcinoma of esophagus ClinVar:RCV000429546 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000418817 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214341 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000477355 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Lip and oral cavity carcinoma ClinVar:RCV001255635 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000429913 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000439338 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000423333 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Neoplasm of brain ClinVar:RCV000435365 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000418173 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000433605 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785308 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000423542 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000418768 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000440133 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660754 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10690522,pubmed:10830574,pubmed:10962443,pubmed:11007040,pubmed:11044641,pubmed:11185887,pubmed:11230707,pubmed:11776043,pubmed:11929815,pubmed:12972634,pubmed:14580680,pubmed:14688025,pubmed:15802015,pubmed:15956964,pubmed:16061860,pubmed:16459017,pubmed:16572201,pubmed:16596195,pubmed:17350822,pubmed:17692090,pubmed:17704924,pubmed:17786186,pubmed:20668451,pubmed:21097718,pubmed:21103049,pubmed:21720365,pubmed:21798893,pubmed:22810696,pubmed:22877736,pubmed:23975423,pubmed:24861525,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:349,cosmic_study:376,cosmic_study:414,cosmic_study:448,pubmed:7547235,pubmed:7585578,pubmed:7665248,pubmed:8039163,pubmed:8481915,pubmed:8631591,pubmed:8761369,pubmed:9460999,pubmed:9500438,pubmed:9924427 17p13.1 17 7675095C> T null V M 14 14 missense 0.998 probably damaging 0.02 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000424469 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622115 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [UniProt]: germline mutation and in a sporadic cancer; somatic mutation, [Cosmic]: prostate pubmed:7872719 17p13.1 17 7675092T> C null R G 15 15 missense 0.58 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000205095 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622115 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [UniProt]: germline mutation and in a sporadic cancer; somatic mutation, [Cosmic]: prostate pubmed:7872719 17p13.1 17 7675092T> C null R G 15 15 missense 0.58 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064796681 cosmic curated [Cosmic]: breast, [Cosmic]: central_nervous_system, [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:7682763 cosmic_study:322,pubmed:8033087,pubmed:9218731,pubmed:9615731,pubmed:9683822 17p13.1 17 7675091C> T null R K 15 15 missense 0.015 benign 1.0 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000424499 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000421969 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000442812 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000429015 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000429222 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000427794 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000426785 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574439 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000704159 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000418929 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000418017 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000439251 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000422641 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Nasopharyngeal Neoplasms ClinVar:RCV000444463 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000440307 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000439625 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000433333 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785238 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000439855 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000417778 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000435664 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000434308 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10582680,pubmed:10675478,pubmed:11044641,pubmed:11895856,pubmed:15674332,pubmed:1647768,pubmed:17982662,pubmed:18025850,pubmed:22089350,pubmed:22810696,cosmic_study:376,pubmed:7917901,pubmed:8020137,pubmed:8142262 17p13.1 17 7675089G> A null R C 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000433090 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000437498 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000432105 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000425355 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000444080 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000444111 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000432831 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000421436 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573315 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000459914 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000430740 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000441260 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000420706 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000438570 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Nasopharyngeal Neoplasms ClinVar:RCV000424235 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000436759 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000430584 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000419625 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785486 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000426938 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000428548 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000436078 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000430935 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs138729528 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11389059,pubmed:11704866,pubmed:12010886,pubmed:15492791,pubmed:16024113,pubmed:17285122,pubmed:18772890,pubmed:22037554,pubmed:23243274,pubmed:23292937,cosmic_study:329,cosmic_study:331,cosmic_study:473,cosmic_study:479,cosmic_study:482,pubmed:8180387,pubmed:9052405,pubmed:9485035 17p13.1 17 7675089G> C null R G 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000443278 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Adrenocortical carcinoma, hereditary (ADCC) MIM:202300 ClinVar:RCV000763419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Basal cell carcinoma, susceptibility to, 7 (BCC7) MIM:614740 ClinVar:RCV000763419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Carcinoma of colon (CRC) Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. pubmed:17060676,pubmed:19042984,pubmed:20301390,pubmed:22138009,pubmed:22855150,pubmed:23012255,pubmed:23429431,pubmed:23852704,pubmed:24996433,pubmed:25006736,pubmed:25373533,ClinVar:RCV000763419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Carcinoma of pancreas MIM:260350 pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV000763419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Choroid plexus papilloma (CPP) MIM:260500 ClinVar:RCV000763419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Glioma susceptibility 1 (GLM1) MIM:137800 ClinVar:RCV000763419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000763419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131301 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000204931 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013173,ClinVar:RCV000763419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Lip and oral cavity carcinoma ClinVar:RCV001255668 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Malignant tumor of esophagus MIM:133239 ClinVar:RCV000239398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Nasopharyngeal carcinoma MIM:607107 ClinVar:RCV000763419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Neoplasm pubmed:22918138,pubmed:23619274,ClinVar:RCV000421746 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000428918 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Osteosarcoma MIM:259500 ClinVar:RCV000763419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Malignant tumor of esophagus, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A pubmed:16959974,pubmed:17719541,pubmed:1868473,pubmed:20385133,pubmed:7887414,pubmed:8825920 pubmed:10029095,pubmed:10071127,pubmed:10091733,pubmed:10203285,pubmed:10223186,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10506718,pubmed:10519384,pubmed:10567903,pubmed:10607740,pubmed:10637254,pubmed:10653866,pubmed:10671690,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10779196,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10846560,pubmed:10850436,pubmed:10874665,pubmed:10878546,pubmed:10896202,pubmed:10914716,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10998080,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11185887,pubmed:11221842,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11358811,pubmed:11371136,pubmed:11378660,pubmed:11388392,pubmed:11390535,pubmed:11406538,pubmed:11433398,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12115559,pubmed:12117880,pubmed:12118317,pubmed:12172044,pubmed:12176791,pubmed:12209590,pubmed:12375013,pubmed:12439172,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12619118,pubmed:12635658,pubmed:12648581,pubmed:12649174,pubmed:12719725,pubmed:12759240,pubmed:12795343,pubmed:12807758,pubmed:12935924,pubmed:12972634,cosmic_study:13,pubmed:1317462,pubmed:1327523,pubmed:1333465,pubmed:1347252,pubmed:1394236,pubmed:14534749,pubmed:14551737,pubmed:1461658,pubmed:14641293,pubmed:14688025,pubmed:14767509,pubmed:1499939,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15305417,pubmed:15308588,pubmed:15363320,pubmed:15370252,pubmed:15376261,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564800,pubmed:15611505,pubmed:15643509,pubmed:15644779,pubmed:15672285,pubmed:15674332,pubmed:15702478,pubmed:15761872,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15930341,pubmed:15943041,pubmed:15956964,pubmed:15977174,pubmed:16000567,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16183105,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16760300,pubmed:16818855,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17064992,pubmed:17079356,pubmed:17118779,pubmed:17201907,pubmed:17259658,pubmed:17285122,pubmed:17300232,pubmed:17388661,pubmed:17410283,pubmed:17417968,pubmed:17437012,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17582213,pubmed:17692090,pubmed:17704924,pubmed:17881637,pubmed:17949449,pubmed:17982662,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21378543,pubmed:21380628,pubmed:21512767,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:21995391,pubmed:22037554,pubmed:22286061,pubmed:22495314,pubmed:22609107,pubmed:22609129,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22832583,pubmed:22844452,pubmed:22877736,pubmed:22895193,pubmed:22911296,pubmed:23103869,pubmed:23196062,pubmed:23349305,pubmed:23415222,pubmed:23525077,pubmed:23563269,pubmed:23575477,pubmed:23585556,pubmed:23592488,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23856246,pubmed:23933559,pubmed:24121792,pubmed:24140581,pubmed:24185509,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24667986,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:34,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:371,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:384,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:435,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:478,cosmic_study:479,cosmic_study:485,cosmic_study:492,cosmic_study:498,cosmic_study:504,cosmic_study:548,cosmic_study:553,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7756655,pubmed:7767983,pubmed:7767998,pubmed:7768632,pubmed:7780983,pubmed:7812946,pubmed:7841032,pubmed:7845017,pubmed:7852189,pubmed:7860623,pubmed:7903205,pubmed:7909871,pubmed:7917901,pubmed:7928628,pubmed:7981076,pubmed:7992847,pubmed:8020137,pubmed:8028358,pubmed:8033087,pubmed:8033152,pubmed:8039163,pubmed:8044781,pubmed:8058340,pubmed:8062274,pubmed:8075648,pubmed:8082516,pubmed:8102535,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8180965,pubmed:8186888,pubmed:8187092,pubmed:8219205,pubmed:8267380,pubmed:8280379,pubmed:8311114,pubmed:8312582,pubmed:8392033,pubmed:8398064,pubmed:8402617,pubmed:8467510,pubmed:8481915,pubmed:8499637,pubmed:8548759,pubmed:8551805,pubmed:8625484,pubmed:8664051,pubmed:8688317,pubmed:8697989,pubmed:8761369,pubmed:8887073,pubmed:8888799,pubmed:8910623,pubmed:8916968,pubmed:8934544,pubmed:8950983,pubmed:8980360,pubmed:9000573,pubmed:9030251,pubmed:9043035,pubmed:9052405,pubmed:9115587,pubmed:9155671,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9489481,pubmed:9537247,pubmed:9546059,pubmed:9546366,pubmed:9568784,pubmed:9635683,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9851256,pubmed:9886570 17p13.1 17 7675088C> T null R H 16 16 missense 0.999 probably damaging 0.08 tolerated 1 Ovarian Neoplasms ClinVar:RCV000785352 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10835493,pubmed:11275993,pubmed:11375957,pubmed:12118324,pubmed:12483005,pubmed:1310070,pubmed:14687797,pubmed:1945416,pubmed:21409490,pubmed:23856246,pubmed:24185509,cosmic_study:504,cosmic_study:553,pubmed:7585578,pubmed:8044781,pubmed:8058340,pubmed:9516924,pubmed:9614374,pubmed:9662254 17p13.1 17 7675088C> A null R L 16 16 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000161065 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10835493,pubmed:11275993,pubmed:11375957,pubmed:12118324,pubmed:12483005,pubmed:1310070,pubmed:14687797,pubmed:1945416,pubmed:21409490,pubmed:23856246,pubmed:24185509,cosmic_study:504,cosmic_study:553,pubmed:7585578,pubmed:8044781,pubmed:8058340,pubmed:9516924,pubmed:9614374,pubmed:9662254 17p13.1 17 7675088C> A null R L 16 16 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000810785 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934578 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10835493,pubmed:11275993,pubmed:11375957,pubmed:12118324,pubmed:12483005,pubmed:1310070,pubmed:14687797,pubmed:1945416,pubmed:21409490,pubmed:23856246,pubmed:24185509,cosmic_study:504,cosmic_study:553,pubmed:7585578,pubmed:8044781,pubmed:8058340,pubmed:9516924,pubmed:9614374,pubmed:9662254 17p13.1 17 7675088C> A null R L 16 16 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000445093 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000423447 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000424063 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000442295 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000435143 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001244047 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000424490 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000440448 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000429805 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000423829 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000445073 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000431923 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000429162 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000440706 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1868473,pubmed:8829627,pubmed:9450901 pubmed:10499619,pubmed:10568819,pubmed:10637254,pubmed:10674608,pubmed:10690522,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:10948316,pubmed:10962443,cosmic_study:11,pubmed:11044641,pubmed:11275993,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11406538,pubmed:11704866,pubmed:11960918,pubmed:12093899,pubmed:12167102,pubmed:12172044,pubmed:12509970,pubmed:12649174,pubmed:12796400,pubmed:12807758,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1499939,pubmed:15057748,pubmed:15254976,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16140923,pubmed:16322298,pubmed:17289876,pubmed:17417968,pubmed:17704924,pubmed:17849424,pubmed:1855226,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:1979160,pubmed:21290211,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21822264,pubmed:22037554,pubmed:22495314,pubmed:22634756,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23103869,pubmed:23525077,pubmed:23531339,pubmed:23700467,pubmed:23788652,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:34,cosmic_study:352,cosmic_study:36,cosmic_study:366,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:403,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:436,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:527,pubmed:7620944,pubmed:7622420,pubmed:7633655,pubmed:7852189,pubmed:7872723,pubmed:7961118,pubmed:8044781,pubmed:8119770,pubmed:8221663,pubmed:8240361,pubmed:8378080,pubmed:8402617,pubmed:8731915,pubmed:8934544,pubmed:9139870,pubmed:9416838,pubmed:9450901,pubmed:9470817,pubmed:9655287,pubmed:9703286,pubmed:9761125,pubmed:9788444 17p13.1 17 7675085C> A null C F 17 17 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000434780 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000433975 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000417996 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000434565 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000445223 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000425147 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001023834 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000437830 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000426543 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000442522 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000423257 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785535 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000422633 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000427160 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000434994 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000432450 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1 pubmed:11113864,pubmed:15208688,pubmed:21796119,pubmed:23292937,cosmic_study:331,cosmic_study:366,cosmic_study:482,cosmic_study:585,pubmed:8672994 17p13.1 17 7675086A> C null C G 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000439618 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000441815 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000431573 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000423671 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000438958 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000436236 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001023833 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001044520 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000430429 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000419497 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000421755 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000436082 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785469 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425379 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000431070 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000419681 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000444713 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675086A> G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000436752 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567552847 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [Cosmic]: prostate, [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:15138567,pubmed:15611505,pubmed:16818855,pubmed:17881637,pubmed:21573592,pubmed:22877736,pubmed:23349305,pubmed:23700467,cosmic_study:435,cosmic_study:448,cosmic_study:485,pubmed:9284834,pubmed:9788444 17p13.1 17 7675084_7675086delinsCC G null C R 17 17 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785487 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000417611 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000436945 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000420646 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000427846 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000439156 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492644 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001060393 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000420420 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000425621 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000426275 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000444511 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000442242 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000437617 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000428308 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000433667 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs967461896 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10802655,pubmed:10928060,pubmed:11044641,pubmed:11244334,pubmed:14697642,pubmed:15138567,pubmed:15778432,pubmed:1923503,pubmed:21380628,cosmic_study:328,cosmic_study:331,cosmic_study:382,pubmed:7604888,pubmed:7952630,pubmed:8407553,pubmed:8655704,pubmed:8916968,pubmed:9058723,pubmed:9635683,pubmed:9788444 17p13.1 17 7675086A> T null C S 17 17 missense 0.947 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000428520 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000445065 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000421434 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000422732 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000424249 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000432087 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567103 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000530055 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000434070 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000429475 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000440822 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000430137 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785243 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000439276 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000441518 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000424653 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000418563 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519980 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10753186,pubmed:12792793,pubmed:15564288,pubmed:16461462,pubmed:16760300,pubmed:17001163,pubmed:17118779,pubmed:17456604,pubmed:23349305,pubmed:23525077,cosmic_study:464 17p13.1 17 7675084G> C null C W 17 17 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000442369 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000432068 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000433025 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000430147 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000424233 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000422335 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166045 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000461158 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000441274 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000430568 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000429854 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000437356 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000441417 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000438398 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000435778 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000418577 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202962 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10850436,pubmed:11221842,pubmed:11275993,pubmed:11753042,pubmed:11896204,pubmed:12509970,pubmed:12807758,pubmed:1461658,pubmed:15126338,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:16421478,pubmed:16785766,pubmed:16818855,pubmed:17064992,pubmed:17350822,pubmed:17447881,pubmed:17573896,pubmed:17704924,pubmed:17982662,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22844452,pubmed:22895193,pubmed:22975805,pubmed:23292937,pubmed:23851445,pubmed:24190505,pubmed:24667986,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:343,cosmic_study:376,cosmic_study:377,cosmic_study:414,cosmic_study:417,cosmic_study:452,cosmic_study:453,cosmic_study:473,cosmic_study:482,cosmic_study:518,cosmic_study:582,pubmed:7549812,pubmed:7615358,pubmed:7852189,pubmed:7992847,pubmed:8100480,pubmed:8261444,pubmed:8916968,pubmed:9413950,pubmed:9431782,pubmed:9453486,pubmed:9485035,pubmed:9537247,pubmed:9579565,pubmed:9781942 17p13.1 17 7675085C> T null C Y 17 17 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000421421 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs786202525 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7675082_7675084du p null P null 18 18 insertion 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165373 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs751477326 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: stomach, [Cosmic]: prostate, [Cosmic]: skin, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10764158,pubmed:11161397,pubmed:11932899,pubmed:15145527,pubmed:15541116,pubmed:15643509,pubmed:16952311,pubmed:17410283,pubmed:22842228,cosmic_study:511,cosmic_study:583,pubmed:7946294,pubmed:8151121,pubmed:8241511,pubmed:8437842,pubmed:8483937,pubmed:8664051,pubmed:8912828,pubmed:9036877 17p13.1 17 7675082G> A null P L 18 18 missense 0.279 benign 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000477631 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs751477326 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10348818,pubmed:11051241,pubmed:11152345,pubmed:11229518,pubmed:11932899,pubmed:15541116,pubmed:16847456,pubmed:16959974,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21720365,pubmed:22037554,pubmed:24140581,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:341,cosmic_study:479,cosmic_study:548,pubmed:7674088,pubmed:8093350,pubmed:8392033,pubmed:9851256 17p13.1 17 7675082G> C null P R 18 18 missense 0.826 possibly damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565979 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs751477326 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10348818,pubmed:11051241,pubmed:11152345,pubmed:11229518,pubmed:11932899,pubmed:15541116,pubmed:16847456,pubmed:16959974,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21720365,pubmed:22037554,pubmed:24140581,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:341,cosmic_study:479,cosmic_study:548,pubmed:7674088,pubmed:8093350,pubmed:8392033,pubmed:9851256 17p13.1 17 7675082G> C null P R 18 18 missense 0.826 possibly damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000540639 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs147002414 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:11896204,pubmed:11932899,pubmed:15154647,pubmed:15541116,pubmed:18772890,pubmed:23774526,cosmic_study:329,cosmic_study:473,pubmed:9761125,pubmed:9792155 17p13.1 17 7675083G> A null P S 18 18 missense 0.432 benign 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000800791 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs147002414 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:17982662 17p13.1 17 7675083G> T null P T 18 18 missense 0.703 possibly damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574871 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs147002414 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:17982662 17p13.1 17 7675083G> T null P T 18 18 missense 0.703 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000687535 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567552637 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7675072_7675079de l null H null 19 19 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785267 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs786202525 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome pubmed:9569035 17p13.1 17 7675084de l null H null 19 19 frameshift 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215848 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs786202525 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome pubmed:9569035 17p13.1 17 7675084de l null H null 19 19 frameshift 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001046701 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs786202525 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome pubmed:9569035 17p13.1 17 7675084de l null H null 19 19 frameshift 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013176 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs786202525 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome pubmed:9569035 17p13.1 17 7675084de l null H null 19 19 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785474 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064795203 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thyroid, [Cosmic]: lung pubmed:10628802,pubmed:11333292,pubmed:1737400,cosmic_study:419 17p13.1 17 7675080G> C null H D 19 19 missense 0.778 possibly damaging 0.01 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575494 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064795203 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thyroid, [Cosmic]: lung pubmed:10628802,pubmed:11333292,pubmed:1737400,cosmic_study:419 17p13.1 17 7675080G> C null H D 19 19 missense 0.778 possibly damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633339 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064795203 cosmic curated [Cosmic]: skin, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:11948487,pubmed:11981662,pubmed:8483937 17p13.1 17 7675080G> T null H N 19 19 missense 0.085 benign 0.73 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555526004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: sporadic cancers; somatic mutation pubmed:10706127,pubmed:1390233,pubmed:20668451,pubmed:22891273,cosmic_study:338,cosmic_study:457,pubmed:8548759,pubmed:9036876,pubmed:9115587 17p13.1 17 7675079T> G null H P 19 19 missense 0.923 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562255 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555526004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: sporadic cancers; somatic mutation pubmed:10706127,pubmed:1390233,pubmed:20668451,pubmed:22891273,cosmic_study:338,cosmic_study:457,pubmed:8548759,pubmed:9036876,pubmed:9115587 17p13.1 17 7675079T> G null H P 19 19 missense 0.923 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001216080 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555526001 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:11325447,pubmed:11406538,pubmed:16024113,pubmed:16572201,pubmed:18772890,pubmed:23917401,cosmic_study:329,cosmic_study:473,cosmic_study:552 17p13.1 17 7675078G> T null H Q 19 19 missense 0.764 possibly damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001023959 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555526001 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:11325447,pubmed:11406538,pubmed:16024113,pubmed:16572201,pubmed:18772890,pubmed:23917401,cosmic_study:329,cosmic_study:473,cosmic_study:552 17p13.1 17 7675078G> T null H Q 19 19 missense 0.764 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000698003 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567552753 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7675077_7675095du p null H null 20 20 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000704693 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000437679 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000430072 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000444992 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000431709 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000441771 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000431956 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000425288 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000420116 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000443866 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000440707 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000436622 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000421694 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000423899 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000426383 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000419821 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000444860 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000436443 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:11595686,pubmed:1324794,pubmed:20404136,pubmed:24375041,cosmic_study:583,pubmed:7812946,pubmed:8625484,pubmed:8934544,pubmed:9262496,pubmed:9537247,pubmed:9736425 17p13.1 17 7675077G> C null H D 20 20 missense 0.963 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000424030 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000438217 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Adenocarcinoma of stomach ClinVar:RCV000439318 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Carcinoma of esophagus ClinVar:RCV000426806 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Carcinoma of gallbladder ClinVar:RCV000420124 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Glioblastoma ClinVar:RCV000421837 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000427330 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000705316 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000444683 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000432746 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Malignant neoplasm of body of uterus ClinVar:RCV000439930 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Neoplasm of brain ClinVar:RCV000427941 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000427517 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000443637 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000438631 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Pancreatic adenocarcinoma ClinVar:RCV000418835 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Small cell lung cancer MIM:182280 ClinVar:RCV000433134 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000429543 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Squamous cell lung carcinoma ClinVar:RCV000435347 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10212000,pubmed:10499619,pubmed:10699891,pubmed:11388392,pubmed:11389059,pubmed:11590071,pubmed:11857392,pubmed:11981662,pubmed:12447671,pubmed:12771990,pubmed:1327523,pubmed:14580680,pubmed:15305417,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:16014569,pubmed:17620607,pubmed:1855226,pubmed:21798893,pubmed:22941189,pubmed:23243274,pubmed:23592488,pubmed:24121791,pubmed:24127483,cosmic_study:349,cosmic_study:424,cosmic_study:472,cosmic_study:523,cosmic_study:556,pubmed:7585578,pubmed:7615358,pubmed:7651727,pubmed:8093978,pubmed:8119770,pubmed:8761369,pubmed:8883402,pubmed:8934544,pubmed:9500438 17p13.1 17 7675076T> A null H L 20 20 missense 0.094 benign 0.07 tolerated 1 Uterine Carcinosarcoma ClinVar:RCV000418129 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000429415 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000440898 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000422797 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000435925 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000434154 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000433706 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564826 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000695193 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000419301 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000440508 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000418067 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000427824 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000445154 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000424807 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000434865 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000430449 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000422109 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000433494 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000444321 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs587780070 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10348818,pubmed:10754498,pubmed:11044641,pubmed:11231481,pubmed:15039212,pubmed:15064998,pubmed:15161705,pubmed:17266182,pubmed:1946433,pubmed:22941189,cosmic_study:424,pubmed:8062274,pubmed:8909247,pubmed:9113074,pubmed:9546366 17p13.1 17 7675077G> T null H N 20 20 missense 0.946 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000419091 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000428125 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000443703 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000432547 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000439058 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000426919 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000438275 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001023982 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000444694 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000434884 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000420510 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000431234 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000437164 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000441519 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000444604 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000421433 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000427925 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000427172 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000421224 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:14580680,pubmed:24797764,cosmic_study:583,pubmed:9043035 17p13.1 17 7675076T> G null H P 20 20 missense 0.973 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000422328 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> T null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567952 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> T null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000464573 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000419975 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000425896 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000444976 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000421045 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000428479 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000441082 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000815181 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000431364 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000423857 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000429821 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000425641 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000444951 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000439103 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000437195 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000436580 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000431267 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000436952 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000421558 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660821 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:10918210,pubmed:10999735,pubmed:11230707,pubmed:11244334,pubmed:11929815,pubmed:12176791,pubmed:17079356,pubmed:17498554,pubmed:20668451,pubmed:21720365,pubmed:22634756,pubmed:23103869,pubmed:23196062,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:403,cosmic_study:414,cosmic_study:417,cosmic_study:436,cosmic_study:548,cosmic_study:585,pubmed:7598762,pubmed:8198984,pubmed:9807634 17p13.1 17 7675075A> C null H Q 20 20 missense 0.922 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000444017 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000433227 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000432550 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000429260 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000438042 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000420789 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000417695 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001023983 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000529132 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000421853 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000445268 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000426502 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000437826 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000439947 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000438407 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785555 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000428674 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000433943 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000443785 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000417973 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000427175 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519991 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10582680,pubmed:10637254,pubmed:10690522,pubmed:10735894,pubmed:10753186,pubmed:10918210,pubmed:10999735,cosmic_study:11,pubmed:11004672,pubmed:11051241,pubmed:11185887,pubmed:11282486,pubmed:11297255,pubmed:11325447,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11857392,pubmed:11896204,pubmed:12032228,pubmed:12093899,pubmed:12543796,pubmed:12649174,pubmed:12792793,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:14697642,pubmed:15154647,pubmed:1516069,pubmed:15161705,pubmed:15221786,pubmed:15499621,pubmed:15523690,pubmed:15642401,pubmed:16024113,pubmed:16271749,pubmed:17118779,pubmed:17361096,pubmed:17573896,pubmed:18772397,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:22089350,pubmed:22495314,pubmed:22877736,pubmed:23091298,pubmed:23349305,pubmed:23700467,pubmed:23856246,pubmed:23917401,pubmed:24140581,pubmed:24667986,pubmed:24823478,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:341,cosmic_study:376,cosmic_study:377,cosmic_study:384,cosmic_study:41,cosmic_study:414,cosmic_study:419,cosmic_study:448,cosmic_study:485,cosmic_study:504,cosmic_study:548,cosmic_study:552,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7729734,pubmed:7767998,pubmed:7909871,pubmed:8012986,pubmed:8137263,pubmed:8142008,pubmed:8180965,pubmed:8317886,pubmed:8481915,pubmed:8640736,pubmed:8761369,pubmed:8934544,pubmed:8950983,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9208900,pubmed:9218731,pubmed:9395180,pubmed:9466649,pubmed:9646028,pubmed:9650746,pubmed:9703286 17p13.1 17 7675076T> C null H R 20 20 missense 0.888 possibly damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000440632 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000428854 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000423688 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000440222 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000436095 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000419735 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000441827 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000555493 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663095 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000444227 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000434725 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000435360 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000427283 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000444364 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000434379 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785312 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000431087 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000430411 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000424007 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000424716 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000423020 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs587780070 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10084308,pubmed:10391558,pubmed:10519384,pubmed:10568819,pubmed:10690522,pubmed:10735894,pubmed:10779196,pubmed:10802655,pubmed:10948316,pubmed:10962443,pubmed:11044641,pubmed:11051241,pubmed:11078762,pubmed:11231481,pubmed:11241240,pubmed:11297255,pubmed:11309337,pubmed:11595686,pubmed:12007715,pubmed:12649174,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:14639659,pubmed:15145527,pubmed:15499621,pubmed:15523690,pubmed:15611505,pubmed:15643509,pubmed:15682042,pubmed:15693850,pubmed:15924253,pubmed:16007576,pubmed:16024113,pubmed:1656362,pubmed:16941491,pubmed:17523278,pubmed:17573896,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21665242,pubmed:21798893,pubmed:21984974,pubmed:21987445,pubmed:22089350,pubmed:22561517,pubmed:22609107,pubmed:22722201,pubmed:22842228,pubmed:23091298,pubmed:23292937,pubmed:23407552,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:349,cosmic_study:357,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:473,cosmic_study:482,cosmic_study:511,cosmic_study:589,pubmed:7767998,pubmed:7780983,pubmed:7841032,pubmed:7882357,pubmed:7946294,pubmed:7997263,pubmed:8058340,pubmed:8080737,pubmed:8102535,pubmed:8579126,pubmed:8644845,pubmed:8688317,pubmed:8781571,pubmed:8934544,pubmed:8956789,pubmed:9052405,pubmed:9284834,pubmed:9703286 17p13.1 17 7675077G> A null H Y 20 20 missense 0.925 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000436304 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs879253911 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: prostate, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10674608,pubmed:10690522,pubmed:10830574,pubmed:11004672,pubmed:11325447,pubmed:11406538,pubmed:11960918,pubmed:15541116,pubmed:17531558,pubmed:22493262,pubmed:7615358,pubmed:7777479,pubmed:8058340,pubmed:8934544 17p13.1 17 7675074C> A null E * 21 21 missense 1 Ovarian Neoplasms ClinVar:RCV000785283 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs879253911 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10607740,pubmed:11044641,pubmed:11948487,pubmed:15308588,pubmed:15538112,cosmic_study:417 17p13.1 17 7675074C> T null E K 21 21 missense 0.164 benign 0.11 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492319 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs879253911 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10607740,pubmed:11044641,pubmed:11948487,pubmed:15308588,pubmed:15538112,cosmic_study:417 17p13.1 17 7675074C> T null E K 21 21 missense 0.164 benign 0.11 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000544036 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs879253911 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10607740,pubmed:11044641,pubmed:11948487,pubmed:15308588,pubmed:15538112,cosmic_study:417 17p13.1 17 7675074C> T null E K 21 21 missense 0.164 benign 0.11 tolerated 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP rs587782596 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: lung, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10564951,pubmed:10735894,pubmed:11161397,pubmed:1346255,pubmed:15863268,pubmed:17410283,pubmed:21822264,pubmed:22941189,pubmed:23770606,pubmed:23851445,pubmed:24140581,pubmed:24292195,pubmed:24797764,cosmic_study:352,cosmic_study:424,cosmic_study:486,cosmic_study:548,cosmic_study:563,pubmed:7585578,pubmed:8272291,pubmed:8761369,pubmed:9796697 17p13.1 17 7675071G> A null R C 22 22 missense 0.959 probably damaging 0.19 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131943 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP rs587782596 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: lung, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10564951,pubmed:10735894,pubmed:11161397,pubmed:1346255,pubmed:15863268,pubmed:17410283,pubmed:21822264,pubmed:22941189,pubmed:23770606,pubmed:23851445,pubmed:24140581,pubmed:24292195,pubmed:24797764,cosmic_study:352,cosmic_study:424,cosmic_study:486,cosmic_study:548,cosmic_study:563,pubmed:7585578,pubmed:8272291,pubmed:8761369,pubmed:9796697 17p13.1 17 7675071G> A null R C 22 22 missense 0.959 probably damaging 0.19 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000168292 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP rs587782596 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: lung, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10564951,pubmed:10735894,pubmed:11161397,pubmed:1346255,pubmed:15863268,pubmed:17410283,pubmed:21822264,pubmed:22941189,pubmed:23770606,pubmed:23851445,pubmed:24140581,pubmed:24292195,pubmed:24797764,cosmic_study:352,cosmic_study:424,cosmic_study:486,cosmic_study:548,cosmic_study:563,pubmed:7585578,pubmed:8272291,pubmed:8761369,pubmed:9796697 17p13.1 17 7675071G> A null R C 22 22 missense 0.959 probably damaging 0.19 tolerated 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs397514495 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Ensembl]: Glioma susceptibility 1 (glm1), [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10391558,pubmed:10564951,pubmed:11044641,pubmed:14688025,pubmed:15099937,pubmed:15924253,pubmed:1630814,pubmed:16525665,pubmed:18025850,pubmed:21060032,pubmed:21150899,pubmed:21552959,pubmed:24797764,cosmic_study:328,cosmic_study:376,cosmic_study:382,pubmed:7693956,pubmed:7981076,pubmed:8028358,pubmed:8102535,pubmed:8621246,pubmed:9120715,pubmed:9230279,pubmed:9921983 17p13.1 17 7675070C> T null R H 22 22 missense 0.78 possibly damaging 0.09 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131382 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs397514495 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Ensembl]: Glioma susceptibility 1 (glm1), [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10391558,pubmed:10564951,pubmed:11044641,pubmed:14688025,pubmed:15099937,pubmed:15924253,pubmed:1630814,pubmed:16525665,pubmed:18025850,pubmed:21060032,pubmed:21150899,pubmed:21552959,pubmed:24797764,cosmic_study:328,cosmic_study:376,cosmic_study:382,pubmed:7693956,pubmed:7981076,pubmed:8028358,pubmed:8102535,pubmed:8621246,pubmed:9120715,pubmed:9230279,pubmed:9921983 17p13.1 17 7675070C> T null R H 22 22 missense 0.78 possibly damaging 0.09 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000168247 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs397514495 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Ensembl]: Glioma susceptibility 1 (glm1), [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10391558,pubmed:10564951,pubmed:11044641,pubmed:14688025,pubmed:15099937,pubmed:15924253,pubmed:1630814,pubmed:16525665,pubmed:18025850,pubmed:21060032,pubmed:21150899,pubmed:21552959,pubmed:24797764,cosmic_study:328,cosmic_study:376,cosmic_study:382,pubmed:7693956,pubmed:7981076,pubmed:8028358,pubmed:8102535,pubmed:8621246,pubmed:9120715,pubmed:9230279,pubmed:9921983 17p13.1 17 7675070C> T null R H 22 22 missense 0.78 possibly damaging 0.09 tolerated 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs397514495 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Ensembl]: Glioma susceptibility 1 (glm1), [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10391558,pubmed:10564951,pubmed:11044641,pubmed:14688025,pubmed:15099937,pubmed:15924253,pubmed:1630814,pubmed:16525665,pubmed:18025850,pubmed:21060032,pubmed:21150899,pubmed:21552959,pubmed:24797764,cosmic_study:328,cosmic_study:376,cosmic_study:382,pubmed:7693956,pubmed:7981076,pubmed:8028358,pubmed:8102535,pubmed:8621246,pubmed:9120715,pubmed:9230279,pubmed:9921983 17p13.1 17 7675070C> T null R H 22 22 missense 0.78 possibly damaging 0.09 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000576528 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs397514495 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Ensembl]: Glioma susceptibility 1 (glm1), [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10391558,pubmed:10564951,pubmed:11044641,pubmed:14688025,pubmed:15099937,pubmed:15924253,pubmed:1630814,pubmed:16525665,pubmed:18025850,pubmed:21060032,pubmed:21150899,pubmed:21552959,pubmed:24797764,cosmic_study:328,cosmic_study:376,cosmic_study:382,pubmed:7693956,pubmed:7981076,pubmed:8028358,pubmed:8102535,pubmed:8621246,pubmed:9120715,pubmed:9230279,pubmed:9921983 17p13.1 17 7675070C> T null R H 22 22 missense 0.78 possibly damaging 0.09 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000989718 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs397514495 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Glioma susceptibility 1, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Ensembl]: Glioma susceptibility 1 (glm1), [Cosmic]: large_intestine, [Cosmic]: upper_aerodigestive_tract pubmed:11231481,pubmed:16024113,pubmed:16818855,pubmed:8308926 17p13.1 17 7675070C> A null R L 22 22 missense 0.067 benign 0.41 tolerated 1 Glioma susceptibility 1 (GLM1) MIM:137800 ClinVar:RCV000032610 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs397514495 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Glioma susceptibility 1, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Ensembl]: Glioma susceptibility 1 (glm1), [Cosmic]: large_intestine, [Cosmic]: upper_aerodigestive_tract pubmed:11231481,pubmed:16024113,pubmed:16818855,pubmed:8308926 17p13.1 17 7675070C> A null R L 22 22 missense 0.067 benign 0.41 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000692266 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs397514495 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p13.1 17 7675070C> G null R P 22 22 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024094 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs397514495 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p13.1 17 7675070C> G null R P 22 22 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001206963 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs587782596 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7675071G> T null R S 22 22 missense 0.093 benign 0.63 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222957 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs587782596 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7675071G> T null R S 22 22 missense 0.093 benign 0.63 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000799329 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567552584 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7675067de l null C null 23 23 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785517 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064796257 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7675066G> C null C W 23 23 missense 0.837 possibly damaging 0.02 deleterious 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001211434 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525970 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: thyroid, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10760817,cosmic_study:11,pubmed:11044641,pubmed:11388392,pubmed:12439172,pubmed:12771990,cosmic_study:13,pubmed:14719105,pubmed:15161705,pubmed:15492791,pubmed:15538112,pubmed:16061860,pubmed:16459017,pubmed:16821082,pubmed:17609875,pubmed:2024123,pubmed:20668451,pubmed:21533174,pubmed:22493262,pubmed:24145436,pubmed:24423316,cosmic_study:328,cosmic_study:338,cosmic_study:34,cosmic_study:41,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:8397797 17p13.1 17 7675064G> C null S * 24 24 missense 1 Ovarian Neoplasms ClinVar:RCV000785319 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525970 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:10615230,pubmed:9815823 17p13.1 17 7675064G> A null S L 24 24 missense 0.0 benign 0.14 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565655 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567552536 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7675061de l null D null 25 25 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785502 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597369519 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7675060_7675063de l null D null 25 25 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000792730 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501209 [ClinVar]: Li-Fraumeni syndrome, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7675061T> C null D G 25 25 missense 0.001 benign 0.04 deleterious 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000462657 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs72661117 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: prostate, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation pubmed:10918210,pubmed:12807758,pubmed:12921629,pubmed:14580680,pubmed:14714296,pubmed:16596195,pubmed:16818855,pubmed:16941491,pubmed:17285122,pubmed:17727479,pubmed:18025850,pubmed:9030251,pubmed:9815823 17p13.1 17 7675062C> T null D N 25 25 missense 0.005 benign 0.27 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs150607408 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation pubmed:18025850 17p13.1 17 7675058C> T null S N 26 26 missense 0.0 benign 0.69 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129849 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs150607408 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation pubmed:18025850 17p13.1 17 7675058C> T null S N 26 26 missense 0.0 benign 0.69 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000233843 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs150607408 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation pubmed:18025850 17p13.1 17 7675058C> T null S N 26 26 missense 0.0 benign 0.69 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662659 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs375275361 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation, [Cosmic]: upper_aerodigestive_tract pubmed:10621852 17p13.1 17 7675054A> T null D E 27 27 missense 0.049 benign 0.2 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213742 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs375275361 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation, [Cosmic]: upper_aerodigestive_tract pubmed:10621852 17p13.1 17 7675054A> T null D E 27 27 missense 0.049 benign 0.2 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000470622 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1060501206 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:11353048,pubmed:14719105,pubmed:16024113,pubmed:21720365,cosmic_study:331,pubmed:9761125 17p13.1 17 7675056C> T null D N 27 27 missense 0.14 benign 0.25 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571882 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1060501206 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:11353048,pubmed:14719105,pubmed:16024113,pubmed:21720365,cosmic_study:331,pubmed:9761125 17p13.1 17 7675056C> T null D N 27 27 missense 0.14 benign 0.25 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000467183 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064795841 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: stomach, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: lung pubmed:10091733,pubmed:10874665,pubmed:11406538,pubmed:15643509,pubmed:16596195,pubmed:21552959 17p13.1 17 7674971C> T null G D 28 28 missense 0.05 benign 0.14 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024325 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs776167460 17p13.1 17 7675053C> G null G R 28 28 missense 0 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP rs776167460 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10070891,pubmed:12370756,pubmed:12807758,pubmed:1375111,pubmed:14688025,pubmed:15564288,pubmed:15643509,pubmed:16596195,pubmed:20668451,pubmed:21103049,pubmed:22493262,pubmed:23770606,cosmic_study:338,cosmic_study:414,cosmic_study:486,pubmed:9036877,pubmed:9262496,pubmed:9270015 17p13.1 17 7675053C> T null G S 28 28 missense 0.05 benign 0.24 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597368970 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674968de l null L null 29 29 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024354 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1199893366 cosmic curated [Cosmic]: large_intestine, [UniProt]: a sporadic cancer; somatic mutation cosmic_study:376 17p13.1 17 7674968A> G null L P 29 29 missense 0.947 probably damaging 0.29 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525921 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [UniProt]: a sporadic cancer; somatic mutation pubmed:14697642 17p13.1 17 7674966C> A null A S 30 30 missense 0.899 possibly damaging 0.12 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633369 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912665 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: COLORECTAL CANCER, [Cosmic]: soft_tissue, [ClinVar]: Hereditary breast and ovarian cancer syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract pubmed:12404284,pubmed:12524418,pubmed:15644779,pubmed:17727479,pubmed:8033087 17p13.1 17 7674965G> A null A V 30 30 missense 0.659 possibly damaging 0.05 deleterious 1 COLORECTAL CANCER (CRC) ClinVar:RCV000013182 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912665 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: COLORECTAL CANCER, [Cosmic]: soft_tissue, [ClinVar]: Hereditary breast and ovarian cancer syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract pubmed:12404284,pubmed:12524418,pubmed:15644779,pubmed:17727479,pubmed:8033087 17p13.1 17 7674965G> A null A V 30 30 missense 0.659 possibly damaging 0.05 deleterious 1 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:PS604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV001030736 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912665 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: COLORECTAL CANCER, [Cosmic]: soft_tissue, [ClinVar]: Hereditary breast and ovarian cancer syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract pubmed:12404284,pubmed:12524418,pubmed:15644779,pubmed:17727479,pubmed:8033087 17p13.1 17 7674965G> A null A V 30 30 missense 0.659 possibly damaging 0.05 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132058 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912665 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: COLORECTAL CANCER, [Cosmic]: soft_tissue, [ClinVar]: Hereditary breast and ovarian cancer syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract pubmed:12404284,pubmed:12524418,pubmed:15644779,pubmed:17727479,pubmed:8033087 17p13.1 17 7674965G> A null A V 30 30 missense 0.659 possibly damaging 0.05 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000536677 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912665 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: COLORECTAL CANCER, [Cosmic]: soft_tissue, [ClinVar]: Hereditary breast and ovarian cancer syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract pubmed:12404284,pubmed:12524418,pubmed:15644779,pubmed:17727479,pubmed:8033087 17p13.1 17 7674965G> A null A V 30 30 missense 0.659 possibly damaging 0.05 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144671 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597368891 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674965de l null P null 31 31 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024420 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660825 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10568819,pubmed:10760686,pubmed:11406538,pubmed:12807758,pubmed:12915879,pubmed:14962108,pubmed:15643509,pubmed:15778432,pubmed:15802015,pubmed:15924253,pubmed:16996204,pubmed:21103049,pubmed:23430953,pubmed:23873848,pubmed:23917401,cosmic_study:323,cosmic_study:329,cosmic_study:376,cosmic_study:440,cosmic_study:552,pubmed:8499637,pubmed:8909247,pubmed:9622088 17p13.1 17 7674962G> A null P L 31 31 missense 0.651 possibly damaging 0.06 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000551566 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660825 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11704866,pubmed:11857392,pubmed:22975805,cosmic_study:453 17p13.1 17 7674962G> C null P R 31 31 missense 0.846 possibly damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222080 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660825 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11704866,pubmed:11857392,pubmed:22975805,cosmic_study:453 17p13.1 17 7674962G> C null P R 31 31 missense 0.846 possibly damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001045782 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs876660254 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674963G> A null P S 31 31 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024409 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs876660254 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674963G> A null P S 31 31 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000801073 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660254 cosmic curated [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10223186,pubmed:12713560,pubmed:17456604,pubmed:9376195 17p13.1 17 7674963G> T null P T 31 31 missense 0.506 possibly damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213384 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587778718 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: sporadic cancers; somatic mutation pubmed:7596184 17p13.1 17 7674959G> T null P H 32 32 missense 0.919 probably damaging 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587778718 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:12404284,pubmed:14719105 17p13.1 17 7674959G> A null P L 32 32 missense 0.177 benign 0.04 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587778718 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: prostate, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [UniProt]: sporadic cancers; somatic mutation pubmed:15523690,pubmed:7604888 17p13.1 17 7674959G> C null P R 32 32 missense 0.177 benign 0.12 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219468 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587778718 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: prostate, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [UniProt]: sporadic cancers; somatic mutation pubmed:15523690,pubmed:7604888 17p13.1 17 7674959G> C null P R 32 32 missense 0.177 benign 0.12 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000205751 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587778718 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: prostate, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [UniProt]: sporadic cancers; somatic mutation pubmed:15523690,pubmed:7604888 17p13.1 17 7674959G> C null P R 32 32 missense 0.177 benign 0.12 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662561 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs868590738 cosmic curated [Cosmic]: skin, [Cosmic]: oesophagus, [UniProt]: sporadic cancers; somatic mutation pubmed:11306496,pubmed:8286219 17p13.1 17 7674960G> A null P S 32 32 missense 0.079 benign 0.08 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525902 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674958_7674960AGG[1 ] null P null 32 32 inframe deletion 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024453 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525902 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674958_7674960AGG[1 ] null P null 32 32 inframe deletion 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000557025 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs866380588 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: kidney, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: endometrium, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: NS, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: cervix, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10084308,pubmed:10091733,pubmed:10348818,pubmed:10393358,pubmed:10615230,pubmed:10706127,pubmed:10753186,pubmed:10850436,pubmed:10874665,pubmed:11275993,pubmed:11325447,pubmed:11375957,pubmed:11595686,pubmed:11801555,pubmed:12203794,pubmed:12792793,pubmed:12807758,pubmed:15064998,pubmed:15161705,pubmed:15257941,pubmed:15388813,pubmed:15499621,pubmed:15915369,pubmed:16024113,pubmed:16760300,pubmed:16818855,pubmed:17001163,pubmed:17285122,cosmic_study:173,pubmed:17473653,pubmed:17573896,pubmed:17683074,pubmed:17962810,pubmed:20054297,pubmed:20668451,pubmed:21533174,pubmed:21720365,pubmed:21798893,pubmed:22609129,pubmed:2263646,pubmed:22722201,pubmed:22931248,pubmed:22980975,pubmed:23780408,cosmic_study:323,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:382,cosmic_study:385,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:512,cosmic_study:585,pubmed:7606196,pubmed:7997263,pubmed:8033152,pubmed:8182933,pubmed:8407553,pubmed:8496613,pubmed:8542583,pubmed:8707401,pubmed:9277151,pubmed:9470817,pubmed:9485035,pubmed:9546366,pubmed:9568784,pubmed:9649138,pubmed:9792155,pubmed:9921983 17p13.1 17 7674957G> A null Q * 33 33 missense 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024481 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs866380588 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: kidney, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: endometrium, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: NS, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: cervix, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10084308,pubmed:10091733,pubmed:10348818,pubmed:10393358,pubmed:10615230,pubmed:10706127,pubmed:10753186,pubmed:10850436,pubmed:10874665,pubmed:11275993,pubmed:11325447,pubmed:11375957,pubmed:11595686,pubmed:11801555,pubmed:12203794,pubmed:12792793,pubmed:12807758,pubmed:15064998,pubmed:15161705,pubmed:15257941,pubmed:15388813,pubmed:15499621,pubmed:15915369,pubmed:16024113,pubmed:16760300,pubmed:16818855,pubmed:17001163,pubmed:17285122,cosmic_study:173,pubmed:17473653,pubmed:17573896,pubmed:17683074,pubmed:17962810,pubmed:20054297,pubmed:20668451,pubmed:21533174,pubmed:21720365,pubmed:21798893,pubmed:22609129,pubmed:2263646,pubmed:22722201,pubmed:22931248,pubmed:22980975,pubmed:23780408,cosmic_study:323,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:382,cosmic_study:385,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:431,cosmic_study:512,cosmic_study:585,pubmed:7606196,pubmed:7997263,pubmed:8033152,pubmed:8182933,pubmed:8407553,pubmed:8496613,pubmed:8542583,pubmed:8707401,pubmed:9277151,pubmed:9470817,pubmed:9485035,pubmed:9546366,pubmed:9568784,pubmed:9649138,pubmed:9792155,pubmed:9921983 17p13.1 17 7674957G> A null Q * 33 33 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000472712 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882002 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10802655,pubmed:11325447,pubmed:16818855,pubmed:8033087,pubmed:8541549 17p13.1 17 7674956T> C null Q R 33 33 missense 0.592 possibly damaging 0.24 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024490 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000436620 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000444718 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000419005 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000430614 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000432462 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000423999 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000425552 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000440641 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000436250 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000434704 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000419924 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000438391 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000431849 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000441340 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000429967 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000421156 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000442175 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10780666,pubmed:12032228,pubmed:12211048,pubmed:15370252,pubmed:15643509,pubmed:17001163,pubmed:22561517,cosmic_study:396,pubmed:9665415 17p13.1 17 7674954G> C null H D 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000418378 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000433537 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000422830 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000444673 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000419701 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000421777 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000443734 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165315 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000697802 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000439007 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000426960 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000441921 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000432479 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000431198 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785542 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000438373 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000437660 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000438323 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000421145 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000420523 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000430839 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10637254,pubmed:11152345,pubmed:11185887,pubmed:11297255,pubmed:11329143,pubmed:11555594,pubmed:12509970,pubmed:12771990,pubmed:15305417,pubmed:16052518,pubmed:16818855,pubmed:17456604,pubmed:17557246,pubmed:17573896,pubmed:21798893,pubmed:21798897,pubmed:22156295,pubmed:22911296,pubmed:23026641,pubmed:23585556,cosmic_study:328,cosmic_study:343,cosmic_study:349,cosmic_study:414,cosmic_study:441,pubmed:8001261,pubmed:8028358,pubmed:8242631,pubmed:8272291,pubmed:8417784,pubmed:8630996,pubmed:8934544,pubmed:9460999 17p13.1 17 7674953T> A null H L 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000437609 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000437420 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000437710 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000441851 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000427057 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000432878 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000433595 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000420192 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000438671 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000441629 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000432133 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000439335 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000430888 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000420894 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000422815 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000426753 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000421458 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000444677 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 cosmic curated [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:11161397,pubmed:21103049,cosmic_study:583,pubmed:9568784 17p13.1 17 7674954G> T null H N 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000419544 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000427668 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000418213 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000429577 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000422374 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000435420 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000444985 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000991151 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000433585 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000442541 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000435566 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000440128 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000417520 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000445292 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000428197 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000424851 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000422912 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000434933 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000423516 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10699891,pubmed:10735894,pubmed:11406538,pubmed:11948487,pubmed:12759240,pubmed:12890146,pubmed:16007576,pubmed:17573896,pubmed:1933879,pubmed:21559688,pubmed:21822264,pubmed:23415222,cosmic_study:352,cosmic_study:419,cosmic_study:465,pubmed:8033152 17p13.1 17 7674953T> G null H P 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000439568 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597368777 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674952A> T null H Q 34 34 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024540 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000440903 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000427767 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000418288 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000423052 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000417979 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000435651 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164329 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000460847 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000423280 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000445148 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000439433 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000418086 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000435870 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785346 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000434549 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000425611 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000439827 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000433342 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000429618 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000445029 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201838 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:7887414 pubmed:10091733,pubmed:10582680,pubmed:10735894,pubmed:10780666,pubmed:11004672,pubmed:11113864,pubmed:11152345,pubmed:11297255,pubmed:11301359,pubmed:11376803,pubmed:11389059,pubmed:11595686,pubmed:11895856,pubmed:11929815,pubmed:12172044,pubmed:12457032,pubmed:12792793,pubmed:14675778,pubmed:15064998,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15643509,pubmed:15778432,pubmed:16024113,pubmed:16174251,pubmed:16322298,pubmed:16459017,pubmed:16941491,pubmed:16959974,pubmed:17001163,pubmed:17388661,pubmed:17417968,pubmed:17456604,pubmed:17523278,pubmed:17692090,pubmed:20404136,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:22561520,pubmed:22609129,pubmed:22891273,pubmed:22941188,pubmed:23292937,pubmed:23525077,pubmed:23917401,pubmed:24057326,pubmed:24145436,pubmed:24709692,cosmic_study:331,cosmic_study:338,cosmic_study:409,cosmic_study:414,cosmic_study:419,cosmic_study:423,cosmic_study:435,cosmic_study:457,cosmic_study:464,cosmic_study:482,cosmic_study:549,cosmic_study:552,cosmic_study:585,pubmed:7903205,pubmed:8033087,pubmed:8542583,pubmed:8551805,pubmed:8630996,pubmed:8934544,pubmed:9416838,pubmed:9610789,pubmed:9761125 17p13.1 17 7674953T> C null H R 34 34 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000424475 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000437380 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000431464 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000418749 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Carcinoma of esophagus ClinVar:RCV000440111 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000424900 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000419839 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221478 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000809571 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000432551 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000426264 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Neoplasm of brain ClinVar:RCV000430089 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000441207 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000429902 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000445008 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000421204 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000419469 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000441502 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000425998 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000434647 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658468 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10519384,pubmed:10564952,pubmed:10780666,pubmed:11152345,pubmed:11223675,pubmed:11592095,pubmed:12509970,pubmed:12807758,pubmed:15492791,pubmed:16818855,pubmed:17573896,pubmed:17683074,pubmed:1855226,pubmed:18772890,pubmed:21720365,pubmed:22156295,pubmed:22895193,pubmed:22975805,pubmed:23103869,pubmed:23143597,pubmed:23384396,pubmed:23525077,pubmed:23788652,pubmed:24145436,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:377,cosmic_study:414,cosmic_study:416,cosmic_study:436,cosmic_study:438,cosmic_study:441,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:527,cosmic_study:549,pubmed:7767998,pubmed:7852189,pubmed:8012986,pubmed:8306343,pubmed:8312582,pubmed:8934544 17p13.1 17 7674954G> A null H Y 34 34 missense 1.0 probably damaging 0.01 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000436284 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587780071 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10918210,pubmed:11801555,pubmed:11896204,pubmed:12172044,pubmed:15523690,pubmed:15656799,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:20668451,pubmed:22609129,pubmed:22980975,pubmed:23856246,cosmic_study:338,cosmic_study:376,cosmic_study:431,cosmic_study:504,pubmed:7633655,pubmed:7704244,pubmed:8198984,pubmed:9622088,pubmed:9670827 17p13.1 17 7674951G> A null L F 35 35 missense 0.353 benign 0.12 tolerated 1 Glioblastoma ClinVar:RCV000419908 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587780071 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10918210,pubmed:11801555,pubmed:11896204,pubmed:12172044,pubmed:15523690,pubmed:15656799,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:20668451,pubmed:22609129,pubmed:22980975,pubmed:23856246,cosmic_study:338,cosmic_study:376,cosmic_study:431,cosmic_study:504,pubmed:7633655,pubmed:7704244,pubmed:8198984,pubmed:9622088,pubmed:9670827 17p13.1 17 7674951G> A null L F 35 35 missense 0.353 benign 0.12 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000434383 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587780071 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10918210,pubmed:11801555,pubmed:11896204,pubmed:12172044,pubmed:15523690,pubmed:15656799,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:20668451,pubmed:22609129,pubmed:22980975,pubmed:23856246,cosmic_study:338,cosmic_study:376,cosmic_study:431,cosmic_study:504,pubmed:7633655,pubmed:7704244,pubmed:8198984,pubmed:9622088,pubmed:9670827 17p13.1 17 7674951G> A null L F 35 35 missense 0.353 benign 0.12 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000428029 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587780071 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10918210,pubmed:11801555,pubmed:11896204,pubmed:12172044,pubmed:15523690,pubmed:15656799,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:20668451,pubmed:22609129,pubmed:22980975,pubmed:23856246,cosmic_study:338,cosmic_study:376,cosmic_study:431,cosmic_study:504,pubmed:7633655,pubmed:7704244,pubmed:8198984,pubmed:9622088,pubmed:9670827 17p13.1 17 7674951G> A null L F 35 35 missense 0.353 benign 0.12 tolerated 1 Neoplasm of brain ClinVar:RCV000429595 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587780071 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10918210,pubmed:11801555,pubmed:11896204,pubmed:12172044,pubmed:15523690,pubmed:15656799,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:20668451,pubmed:22609129,pubmed:22980975,pubmed:23856246,cosmic_study:338,cosmic_study:376,cosmic_study:431,cosmic_study:504,pubmed:7633655,pubmed:7704244,pubmed:8198984,pubmed:9622088,pubmed:9670827 17p13.1 17 7674951G> A null L F 35 35 missense 0.353 benign 0.12 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000417813 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587780071 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10918210,pubmed:11801555,pubmed:11896204,pubmed:12172044,pubmed:15523690,pubmed:15656799,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:20668451,pubmed:22609129,pubmed:22980975,pubmed:23856246,cosmic_study:338,cosmic_study:376,cosmic_study:431,cosmic_study:504,pubmed:7633655,pubmed:7704244,pubmed:8198984,pubmed:9622088,pubmed:9670827 17p13.1 17 7674951G> A null L F 35 35 missense 0.353 benign 0.12 tolerated 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000439186 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587780071 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10918210,pubmed:11801555,pubmed:11896204,pubmed:12172044,pubmed:15523690,pubmed:15656799,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:20668451,pubmed:22609129,pubmed:22980975,pubmed:23856246,cosmic_study:338,cosmic_study:376,cosmic_study:431,cosmic_study:504,pubmed:7633655,pubmed:7704244,pubmed:8198984,pubmed:9622088,pubmed:9670827 17p13.1 17 7674951G> A null L F 35 35 missense 0.353 benign 0.12 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000418414 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587780071 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10918210,pubmed:11801555,pubmed:11896204,pubmed:12172044,pubmed:15523690,pubmed:15656799,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:20668451,pubmed:22609129,pubmed:22980975,pubmed:23856246,cosmic_study:338,cosmic_study:376,cosmic_study:431,cosmic_study:504,pubmed:7633655,pubmed:7704244,pubmed:8198984,pubmed:9622088,pubmed:9670827 17p13.1 17 7674951G> A null L F 35 35 missense 0.353 benign 0.12 tolerated 1 Pancreatic adenocarcinoma ClinVar:RCV000426684 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587780071 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10918210,pubmed:11801555,pubmed:11896204,pubmed:12172044,pubmed:15523690,pubmed:15656799,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:20668451,pubmed:22609129,pubmed:22980975,pubmed:23856246,cosmic_study:338,cosmic_study:376,cosmic_study:431,cosmic_study:504,pubmed:7633655,pubmed:7704244,pubmed:8198984,pubmed:9622088,pubmed:9670827 17p13.1 17 7674951G> A null L F 35 35 missense 0.353 benign 0.12 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000439843 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587780071 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10918210,pubmed:11801555,pubmed:11896204,pubmed:12172044,pubmed:15523690,pubmed:15656799,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:20668451,pubmed:22609129,pubmed:22980975,pubmed:23856246,cosmic_study:338,cosmic_study:376,cosmic_study:431,cosmic_study:504,pubmed:7633655,pubmed:7704244,pubmed:8198984,pubmed:9622088,pubmed:9670827 17p13.1 17 7674951G> A null L F 35 35 missense 0.353 benign 0.12 tolerated 1 Uterine cervical neoplasms ClinVar:RCV000421548 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000431615 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000427064 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565549 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000443173 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000434795 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000426499 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000436747 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785543 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000421586 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000442619 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000422209 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma cosmic_study:375,pubmed:8028358,pubmed:8541549,pubmed:8579126,pubmed:9058723 17p13.1 17 7674950A> T null L H 35 35 missense 0.993 probably damaging 0.0 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000431831 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11297255,pubmed:11406538,pubmed:16528528,cosmic_study:414,pubmed:8392033,pubmed:9052405,pubmed:9121123,pubmed:9445137,pubmed:9459157 17p13.1 17 7674950A> G null L P 35 35 missense 0.996 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000441162 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11297255,pubmed:11406538,pubmed:16528528,cosmic_study:414,pubmed:8392033,pubmed:9052405,pubmed:9121123,pubmed:9445137,pubmed:9459157 17p13.1 17 7674950A> G null L P 35 35 missense 0.996 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000424516 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11297255,pubmed:11406538,pubmed:16528528,cosmic_study:414,pubmed:8392033,pubmed:9052405,pubmed:9121123,pubmed:9445137,pubmed:9459157 17p13.1 17 7674950A> G null L P 35 35 missense 0.996 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633391 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11297255,pubmed:11406538,pubmed:16528528,cosmic_study:414,pubmed:8392033,pubmed:9052405,pubmed:9121123,pubmed:9445137,pubmed:9459157 17p13.1 17 7674950A> G null L P 35 35 missense 0.996 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000442808 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11297255,pubmed:11406538,pubmed:16528528,cosmic_study:414,pubmed:8392033,pubmed:9052405,pubmed:9121123,pubmed:9445137,pubmed:9459157 17p13.1 17 7674950A> G null L P 35 35 missense 0.996 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000433582 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11297255,pubmed:11406538,pubmed:16528528,cosmic_study:414,pubmed:8392033,pubmed:9052405,pubmed:9121123,pubmed:9445137,pubmed:9459157 17p13.1 17 7674950A> G null L P 35 35 missense 0.996 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000419057 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11297255,pubmed:11406538,pubmed:16528528,cosmic_study:414,pubmed:8392033,pubmed:9052405,pubmed:9121123,pubmed:9445137,pubmed:9459157 17p13.1 17 7674950A> G null L P 35 35 missense 0.996 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000441887 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11297255,pubmed:11406538,pubmed:16528528,cosmic_study:414,pubmed:8392033,pubmed:9052405,pubmed:9121123,pubmed:9445137,pubmed:9459157 17p13.1 17 7674950A> G null L P 35 35 missense 0.996 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000436323 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11297255,pubmed:11406538,pubmed:16528528,cosmic_study:414,pubmed:8392033,pubmed:9052405,pubmed:9121123,pubmed:9445137,pubmed:9459157 17p13.1 17 7674950A> G null L P 35 35 missense 0.996 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000426810 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11297255,pubmed:11406538,pubmed:16528528,cosmic_study:414,pubmed:8392033,pubmed:9052405,pubmed:9121123,pubmed:9445137,pubmed:9459157 17p13.1 17 7674950A> G null L P 35 35 missense 0.996 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000425646 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11297255,pubmed:11406538,pubmed:16528528,cosmic_study:414,pubmed:8392033,pubmed:9052405,pubmed:9121123,pubmed:9445137,pubmed:9459157 17p13.1 17 7674950A> G null L P 35 35 missense 0.996 probably damaging 0.0 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000423937 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000437791 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000428827 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561306 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000535418 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000436915 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000420755 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000431014 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000430366 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785551 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000422070 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000440633 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000424933 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519998 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:7682763 pubmed:10582680,pubmed:11325447,pubmed:11592095,pubmed:11668479,pubmed:12483005,pubmed:12509970,pubmed:12807758,pubmed:1310070,pubmed:14687797,pubmed:14726385,pubmed:15221786,pubmed:15802015,pubmed:16024113,pubmed:16459017,pubmed:16461462,pubmed:16821082,pubmed:17417968,pubmed:17692090,pubmed:1855226,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:21822268,pubmed:22820643,pubmed:22877736,pubmed:22941189,pubmed:23196062,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:398,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:448,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:8102535,pubmed:8311114,pubmed:8630996,pubmed:9262496,pubmed:9354678,pubmed:9665415 17p13.1 17 7674950A> C null L R 35 35 missense 0.979 probably damaging 0.0 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000419180 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567552031 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674950de l null I null 36 36 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785262 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000417891 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000433861 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000433525 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000441219 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000425266 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000428137 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000426791 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000435534 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000418677 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000420717 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000444892 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000436319 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000430955 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000423573 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000438337 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs942158624 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:10582680,pubmed:10753186,pubmed:10754498,pubmed:11007040,pubmed:11306511,pubmed:1347094,pubmed:15564288,pubmed:16570275,pubmed:17573896,pubmed:20668451,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:23407552,pubmed:23525077,pubmed:24127483,pubmed:24423316,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:349,cosmic_study:375,cosmic_study:464,cosmic_study:523,pubmed:7598762,pubmed:8242631,pubmed:9231161,pubmed:9736425 17p13.1 17 7674948T> A null I F 36 36 missense 0.942 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000426094 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000418858 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000434462 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Carcinoma of esophagus ClinVar:RCV000419550 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000438380 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Glioblastoma ClinVar:RCV000442092 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000424140 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633400 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000436566 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000429158 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Neoplasm of brain ClinVar:RCV000421371 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000429834 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000433822 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000423525 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000426409 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000439382 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000442140 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519994 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus cosmic_study:417 17p13.1 17 7674946G> C null I M 36 36 missense 0.961 probably damaging 0.01 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000428127 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000419606 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000432578 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000430554 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000425779 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000417492 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000420311 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024599 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000692717 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000440578 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000437965 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000444669 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000440765 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000424894 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785514 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000435160 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000433212 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000442006 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000422932 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11468183,pubmed:11595686,pubmed:15161705,pubmed:15221786,pubmed:15702478,pubmed:16322298,pubmed:17266182,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:24221193,pubmed:24604757,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:550,cosmic_study:582,pubmed:8934544 17p13.1 17 7674947A> T null I N 36 36 missense 0.992 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000427719 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000429901 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000440129 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000442296 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000422467 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000421805 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000431547 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001184465 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000439461 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000442729 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000426991 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000421312 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000445057 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000437242 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000432185 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000437865 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000429226 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs760043106 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: gastrointestinal_tract_(site_indeterminate), [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11389059,pubmed:16322298,pubmed:22495314,pubmed:23430953,cosmic_study:377,cosmic_study:384,pubmed:8242631 17p13.1 17 7674947A> C null I S 36 36 missense 0.973 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000427622 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000421751 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000441624 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000423911 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000428484 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000434089 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000434805 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024600 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000198789 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000421097 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000442071 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000418938 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000419621 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000429211 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785324 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000436603 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000437301 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000439388 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000429852 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs760043106 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074,pubmed:9450901 pubmed:10203285,pubmed:10408409,pubmed:10567903,pubmed:10962865,pubmed:11301359,pubmed:11329143,pubmed:11376803,pubmed:11819688,pubmed:12093899,pubmed:12509970,pubmed:12792793,pubmed:1346255,pubmed:15221786,pubmed:15246568,pubmed:15254976,pubmed:15492791,pubmed:15644779,pubmed:15702478,pubmed:15761872,pubmed:16322298,pubmed:16459017,pubmed:16847456,pubmed:16890317,pubmed:17417968,pubmed:17692090,pubmed:17704924,pubmed:18772890,pubmed:20668451,pubmed:21512767,pubmed:21720365,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:22931248,pubmed:23415222,pubmed:23607916,pubmed:23700467,pubmed:23917401,pubmed:24797764,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:414,cosmic_study:448,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:552,cosmic_study:583,cosmic_study:585,pubmed:7712430,pubmed:8037181,pubmed:8039618,pubmed:8102535,pubmed:8180965,pubmed:8272291,pubmed:8467510,pubmed:8481915,pubmed:8630996,pubmed:8640736,pubmed:8934544,pubmed:9270015,pubmed:9450901,pubmed:9537247,pubmed:9635683,pubmed:9683299 17p13.1 17 7674947A> G null I T 36 36 missense 0.94 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000438726 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs397516435 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: kidney, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10070948,pubmed:10071127,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10582680,pubmed:10589767,pubmed:10748875,pubmed:11079169,pubmed:11241240,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11704866,pubmed:11801555,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:12093899,pubmed:12807758,pubmed:14688025,pubmed:14969745,pubmed:15064998,pubmed:15073856,pubmed:15154647,pubmed:15221786,pubmed:15492791,pubmed:15499621,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16421478,pubmed:16461462,pubmed:16821082,pubmed:16847456,pubmed:17001163,pubmed:17215851,pubmed:17683074,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:2024123,pubmed:20668451,pubmed:21103049,pubmed:21556624,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21892161,pubmed:22037554,pubmed:22286061,pubmed:22493262,pubmed:22561520,pubmed:22675565,pubmed:22810696,pubmed:22842228,pubmed:22877736,pubmed:22895193,pubmed:23104868,pubmed:23407552,pubmed:23525077,pubmed:23700467,pubmed:23851445,pubmed:23917401,pubmed:24292195,pubmed:29739316,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:407,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:425,cosmic_study:448,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:511,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:586,pubmed:7614480,pubmed:7615358,pubmed:7633655,pubmed:7767983,pubmed:8075648,pubmed:8093350,pubmed:8180965,pubmed:8187092,pubmed:8242631,pubmed:8392033,pubmed:8437842,pubmed:8483937,pubmed:8541549,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8950983,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9121123,pubmed:9258660,pubmed:9262496,pubmed:9354678,pubmed:9460999,pubmed:9665415,pubmed:9807634,pubmed:9886570 17p13.1 17 7674945G> A null R * 37 37 missense 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131510 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs397516435 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: kidney, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10070948,pubmed:10071127,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10582680,pubmed:10589767,pubmed:10748875,pubmed:11079169,pubmed:11241240,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11704866,pubmed:11801555,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:12093899,pubmed:12807758,pubmed:14688025,pubmed:14969745,pubmed:15064998,pubmed:15073856,pubmed:15154647,pubmed:15221786,pubmed:15492791,pubmed:15499621,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16421478,pubmed:16461462,pubmed:16821082,pubmed:16847456,pubmed:17001163,pubmed:17215851,pubmed:17683074,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:2024123,pubmed:20668451,pubmed:21103049,pubmed:21556624,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21892161,pubmed:22037554,pubmed:22286061,pubmed:22493262,pubmed:22561520,pubmed:22675565,pubmed:22810696,pubmed:22842228,pubmed:22877736,pubmed:22895193,pubmed:23104868,pubmed:23407552,pubmed:23525077,pubmed:23700467,pubmed:23851445,pubmed:23917401,pubmed:24292195,pubmed:29739316,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:407,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:425,cosmic_study:448,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:511,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:586,pubmed:7614480,pubmed:7615358,pubmed:7633655,pubmed:7767983,pubmed:8075648,pubmed:8093350,pubmed:8180965,pubmed:8187092,pubmed:8242631,pubmed:8392033,pubmed:8437842,pubmed:8483937,pubmed:8541549,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8950983,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9121123,pubmed:9258660,pubmed:9262496,pubmed:9354678,pubmed:9460999,pubmed:9665415,pubmed:9807634,pubmed:9886570 17p13.1 17 7674945G> A null R * 37 37 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000205265 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs397516435 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: kidney, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10070948,pubmed:10071127,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10582680,pubmed:10589767,pubmed:10748875,pubmed:11079169,pubmed:11241240,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11704866,pubmed:11801555,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:12093899,pubmed:12807758,pubmed:14688025,pubmed:14969745,pubmed:15064998,pubmed:15073856,pubmed:15154647,pubmed:15221786,pubmed:15492791,pubmed:15499621,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16421478,pubmed:16461462,pubmed:16821082,pubmed:16847456,pubmed:17001163,pubmed:17215851,pubmed:17683074,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:2024123,pubmed:20668451,pubmed:21103049,pubmed:21556624,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:21892161,pubmed:22037554,pubmed:22286061,pubmed:22493262,pubmed:22561520,pubmed:22675565,pubmed:22810696,pubmed:22842228,pubmed:22877736,pubmed:22895193,pubmed:23104868,pubmed:23407552,pubmed:23525077,pubmed:23700467,pubmed:23851445,pubmed:23917401,pubmed:24292195,pubmed:29739316,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:407,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:425,cosmic_study:448,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:511,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:586,pubmed:7614480,pubmed:7615358,pubmed:7633655,pubmed:7767983,pubmed:8075648,pubmed:8093350,pubmed:8180965,pubmed:8187092,pubmed:8242631,pubmed:8392033,pubmed:8437842,pubmed:8483937,pubmed:8541549,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8950983,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9121123,pubmed:9258660,pubmed:9262496,pubmed:9354678,pubmed:9460999,pubmed:9665415,pubmed:9807634,pubmed:9886570 17p13.1 17 7674945G> A null R * 37 37 missense 1 Ovarian Neoplasms ClinVar:RCV000785329 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs397516435 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7674945G> C null R G 37 37 missense 0.991 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217052 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs397516435 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7674945G> C null R G 37 37 missense 0.991 probably damaging 0.0 deleterious 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000230517 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:7665920 17p13.1 17 7674944C> A null R L 37 37 missense 0.909 probably damaging 0.04 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024636 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000440531 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000431695 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000440866 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216410 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000433800 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000435372 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000436292 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000443927 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000425092 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000418400 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000429772 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000434064 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000427483 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000419494 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000423798 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10408409,pubmed:11333292,pubmed:1324794,pubmed:15363320,pubmed:15778432,pubmed:18948947,pubmed:22941188,pubmed:23103869,pubmed:23104868,cosmic_study:341,cosmic_study:423,cosmic_study:436,cosmic_study:454,cosmic_study:582,cosmic_study:583,pubmed:8033152,pubmed:9113074,pubmed:9416838,pubmed:9610789,pubmed:9846966 17p13.1 17 7674944C> G null R P 37 37 missense 0.994 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000443813 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: soft_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: thymus, [UniProt]: sporadic cancers; somatic mutation pubmed:11007040,cosmic_study:376,pubmed:7572785,pubmed:8156519 17p13.1 17 7674944C> T null R Q 37 37 missense 0.64 possibly damaging 0.07 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580263 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs483352697 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: soft_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: thymus, [UniProt]: sporadic cancers; somatic mutation pubmed:11007040,cosmic_study:376,pubmed:7572785,pubmed:8156519 17p13.1 17 7674944C> T null R Q 37 37 missense 0.64 possibly damaging 0.07 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000196467 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567551903 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:11325447,pubmed:12719725,pubmed:14670539,pubmed:18772396,pubmed:19739123,pubmed:8407553,pubmed:9886570 17p13.1 17 7674941A> T null V E 38 38 missense 0.979 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000811803 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567551903 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:11325447,pubmed:12719725,pubmed:14670539,pubmed:18772396,pubmed:19739123,pubmed:8407553,pubmed:9886570 17p13.1 17 7674941A> T null V E 38 38 missense 0.979 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785480 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567551903 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p13.1 17 7674941A> C null V G 38 38 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024674 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567551903 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p13.1 17 7674941A> C null V G 38 38 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001241421 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786204041 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:1347094,pubmed:16183105,pubmed:21499249,pubmed:22634756,cosmic_study:323,cosmic_study:403,cosmic_study:487,pubmed:9796697 17p13.1 17 7674942C> A null V L 38 38 missense 0.821 possibly damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000198322 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786204041 cosmic curated [Cosmic]: breast, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: ovary, [Cosmic]: lung pubmed:1347094,pubmed:16183105,pubmed:21499249,pubmed:22634756,cosmic_study:323,cosmic_study:403,cosmic_study:487,pubmed:9796697 17p13.1 17 7674942C> G null V L 38 38 missense 0.821 possibly damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566652 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786204041 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11406538,pubmed:11494027,pubmed:1324794,pubmed:15057748,pubmed:15499621,pubmed:15523690,pubmed:21103049,pubmed:21665242,pubmed:24292195,cosmic_study:563,pubmed:8541549,pubmed:8794405 17p13.1 17 7674942C> T null V M 38 38 missense 0.995 probably damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024656 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786204041 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11406538,pubmed:11494027,pubmed:1324794,pubmed:15057748,pubmed:15499621,pubmed:15523690,pubmed:21103049,pubmed:21665242,pubmed:24292195,cosmic_study:563,pubmed:8541549,pubmed:8794405 17p13.1 17 7674942C> T null V M 38 38 missense 0.995 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000167874 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786204041 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11406538,pubmed:11494027,pubmed:1324794,pubmed:15057748,pubmed:15499621,pubmed:15523690,pubmed:21103049,pubmed:21665242,pubmed:24292195,cosmic_study:563,pubmed:8541549,pubmed:8794405 17p13.1 17 7674942C> T null V M 38 38 missense 0.995 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1131691035 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674940de l null E null 39 39 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492785 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567551854 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: prostate, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10408409,pubmed:10637254,pubmed:11389059,pubmed:12032228,pubmed:12792793,pubmed:1312896,pubmed:15221786,pubmed:15656799,pubmed:21103049,pubmed:21559688,pubmed:21720365,pubmed:21822268,pubmed:22493262,pubmed:22722839,pubmed:24121792,cosmic_study:331,cosmic_study:376,cosmic_study:391,cosmic_study:398,cosmic_study:414,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7903205,pubmed:7997263,pubmed:8093350,pubmed:8688317,pubmed:9264274 17p13.1 17 7674939C> A null E * 39 39 missense 1 Ovarian Neoplasms ClinVar:RCV000785326 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567551821 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10709097,pubmed:10901165,pubmed:17001163,pubmed:22980975,pubmed:24861525,cosmic_study:431 17p13.1 17 7674936C> A null G * 40 40 missense 1 Ovarian Neoplasms ClinVar:RCV000785258 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525857 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: peritoneum, [Cosmic]: lung pubmed:10084308,pubmed:10391558,pubmed:10728699,pubmed:11433398,pubmed:1324794,pubmed:16061860,pubmed:9614374 17p13.1 17 7674935C> T null G E 40 40 missense 0.721 possibly damaging 0.05 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024731 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525857 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: peritoneum, [Cosmic]: lung pubmed:10084308,pubmed:10391558,pubmed:10728699,pubmed:11433398,pubmed:1324794,pubmed:16061860,pubmed:9614374 17p13.1 17 7674935C> T null G E 40 40 missense 0.721 possibly damaging 0.05 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000706290 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567551704 17p13.1 17 7674925_7674942de l null G null 40 45 inframe deletion 1 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525857 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:15154647,pubmed:17692090,pubmed:20826764,pubmed:21103049,pubmed:21573592,pubmed:22722829,cosmic_study:335,cosmic_study:376,cosmic_study:401,cosmic_study:414,cosmic_study:435 17p13.1 17 7674935C> A null G V 40 40 missense 0.853 possibly damaging 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1131691011 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674934de l null N null 41 41 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492564 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs730882024 cosmic curated [Cosmic]: large_intestine, [Cosmic]: thymus, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11595686,pubmed:16024113,pubmed:7572785,pubmed:8635153,pubmed:8794405,pubmed:9030251 17p13.1 17 7674928C> A null L F 42 42 missense 0.889 possibly damaging 0.7 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780072 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:16024113,pubmed:22493262,pubmed:22609107 17p13.1 17 7674927G> A null R C 43 43 missense 0.011 benign 0.14 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563913 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780072 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:16024113,pubmed:22493262,pubmed:22609107 17p13.1 17 7674927G> A null R C 43 43 missense 0.011 benign 0.14 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000473040 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780072 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:16059649 17p13.1 17 7674927G> C null R G 43 43 missense 0.106 benign 0.2 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218191 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs587778719 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: stomach, [ClinVar]: Hereditary breast and ovarian cancer syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: biliary_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:8058340,pubmed:8932338,pubmed:9376195,pubmed:9886570 17p13.1 17 7674926C> T null R H 43 43 missense 0.0 benign 0.7 tolerated 1 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:PS604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV001030735 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs587778719 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: stomach, [ClinVar]: Hereditary breast and ovarian cancer syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: biliary_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:8058340,pubmed:8932338,pubmed:9376195,pubmed:9886570 17p13.1 17 7674926C> T null R H 43 43 missense 0.0 benign 0.7 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567735 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs587778719 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: stomach, [ClinVar]: Hereditary breast and ovarian cancer syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: biliary_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:8058340,pubmed:8932338,pubmed:9376195,pubmed:9886570 17p13.1 17 7674926C> T null R H 43 43 missense 0.0 benign 0.7 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000459232 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs587778719 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: skin, [UniProt]: sporadic cancers; somatic mutation pubmed:11981662,pubmed:2040694,pubmed:7928628 17p13.1 17 7674926C> A null R L 43 43 missense 0.036 benign 0.87 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs587778719 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674926C> G null R P 43 43 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024853 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567551730 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674922_7674924de l null V null 44 44 inframe deletion 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000703646 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597368504 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674923A> T null V E 44 44 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000798870 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882003 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:11306496,pubmed:11595686,pubmed:17573896 17p13.1 17 7674924C> A null V L 44 44 missense 0.006 benign 0.04 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564461 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882003 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:11306496,pubmed:11595686,pubmed:17573896 17p13.1 17 7674924C> A null V L 44 44 missense 0.006 benign 0.04 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000695145 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882003 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: ovary pubmed:11306496,pubmed:11595686,pubmed:17573896 17p13.1 17 7674924C> G null V L 44 44 missense 0.006 benign 0.04 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564049 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882003 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: ovary pubmed:11306496,pubmed:11595686,pubmed:17573896 17p13.1 17 7674924C> G null V L 44 44 missense 0.006 benign 0.04 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000696578 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882003 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation pubmed:16061860,pubmed:8058340 17p13.1 17 7674924C> T null V M 44 44 missense 0.294 benign 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492177 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882003 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation pubmed:16061860,pubmed:8058340 17p13.1 17 7674924C> T null V M 44 44 missense 0.294 benign 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000460914 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567551718 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674921_7674922delinsA G null E * 45 45 stop gained 1 Ovarian Neoplasms ClinVar:RCV000785499 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs1260903787 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [UniProt]: sporadic cancers; somatic mutation pubmed:15098008,pubmed:2040694 17p13.1 17 7674920T> C null E G 45 45 missense 0.134 benign 0.04 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs786202222 cosmic curated [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:11004672,pubmed:21103049,pubmed:7872723,pubmed:8319218 17p13.1 17 7674916A> T null Y * 46 46 missense 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164938 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000443687 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000431652 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000422077 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000704312 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000442863 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000433236 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000440667 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000443828 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000432320 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000439980 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000427749 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000427034 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000437254 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000422980 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000424901 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000437968 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10203285,pubmed:10212000,pubmed:10348818,pubmed:10637254,pubmed:10675480,pubmed:10706127,pubmed:10735894,pubmed:10753186,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11325447,pubmed:12375013,pubmed:12404284,pubmed:12509970,pubmed:12649174,pubmed:1312896,pubmed:1333465,pubmed:14767509,pubmed:15161705,pubmed:15492791,pubmed:15541116,pubmed:15802015,pubmed:16024113,pubmed:16183105,pubmed:1656362,pubmed:17001163,pubmed:17692090,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:22156295,pubmed:22493262,pubmed:22810696,pubmed:22877736,pubmed:23104009,pubmed:23525077,pubmed:23592488,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:343,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:441,cosmic_study:448,cosmic_study:449,cosmic_study:464,cosmic_study:472,cosmic_study:548,cosmic_study:582,pubmed:7997263,pubmed:8001261,pubmed:8280379,pubmed:8797864,pubmed:8821948,pubmed:8995554,pubmed:9058723,pubmed:9260591,pubmed:9270015,pubmed:9354678,pubmed:9568784,pubmed:9816045 17p13.1 17 7674917T> C null Y C 46 46 missense 0.985 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000430410 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000444122 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000444873 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000434446 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000462351 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663307 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000421137 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000438356 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000421350 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000436740 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000428535 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000439629 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000423676 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000430021 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000419128 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000426948 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000428939 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000439865 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14580680,pubmed:14962108,pubmed:15778432,pubmed:16061860,cosmic_study:375,pubmed:7730141,pubmed:7909871,pubmed:8033087,pubmed:8402617,pubmed:8621246,pubmed:8965097,pubmed:9052405,pubmed:9367066 17p13.1 17 7674918A> C null Y D 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000434351 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Carcinoma of esophagus ClinVar:RCV000438926 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Glioblastoma ClinVar:RCV000431494 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000439588 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000421916 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000421235 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000436627 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Neoplasm of brain ClinVar:RCV000428672 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000424047 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000443993 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000418952 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000429233 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000426974 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000419588 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000434394 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000429897 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:17727479,pubmed:18772397,cosmic_study:332 17p13.1 17 7674917T> A null Y F 46 46 missense 0.907 possibly damaging 0.02 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000443853 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000422887 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000424493 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000431958 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775886 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000819983 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000426781 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000437451 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000420368 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000421826 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000443753 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000440094 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000427755 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000437587 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000419308 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000432726 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000439923 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000443622 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15564288,pubmed:17410283,pubmed:23143597,cosmic_study:438,pubmed:8187092,pubmed:9121123,pubmed:9788444 17p13.1 17 7674918A> G null Y H 46 46 missense 0.7 possibly damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000431739 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000417461 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000433474 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000426051 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001024933 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662621 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000444368 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000432365 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000430575 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000424682 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000420753 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000430294 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000435608 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000424892 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000437987 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000419577 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000422784 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000444287 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520008 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:21796119,cosmic_study:366,cosmic_study:414,cosmic_study:419,pubmed:7852189,pubmed:8001261 17p13.1 17 7674918A> T null Y N 46 46 missense 0.925 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000441202 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000426347 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Glioblastoma ClinVar:RCV000418906 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000437249 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000428760 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000424176 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000435531 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000436591 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000428105 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000443239 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000433698 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000430958 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000438368 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000423862 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000417872 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000440868 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520007 cosmic curated [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10962865,pubmed:11776043,pubmed:14641293,pubmed:15523690,pubmed:15533223,pubmed:16229746,pubmed:16821082,pubmed:17350822,pubmed:22832583,cosmic_study:375,cosmic_study:379,pubmed:8655704,pubmed:8934544 17p13.1 17 7674917T> G null Y S 46 46 missense 0.428 benign 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000441249 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525804 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674914A> G null L S 47 47 missense 0.001 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566251 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525804 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674914A> G null L S 47 47 missense 0.001 benign 0.17 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001049540 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs923100890 cosmic curated [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation cosmic_study:376 17p13.1 17 7674912C> T null D N 48 48 missense 0.007 benign 0.02 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1464727668 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:11323219,pubmed:15802015,cosmic_study:414,pubmed:9431782 17p13.1 17 7674908T> C null D G 49 49 missense 0.991 probably damaging 0.04 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000709405 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597368376 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674909C> G null D H 49 49 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001025029 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1464727668 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [Cosmic]: lung pubmed:10830574,pubmed:10928060,pubmed:12890146,pubmed:15682042,pubmed:16525665,pubmed:16570275,pubmed:18772397,pubmed:21720365,pubmed:22844452,cosmic_study:331,cosmic_study:332,pubmed:7730141,pubmed:7767998,pubmed:7952630,pubmed:8481915 17p13.1 17 7674908T> A null D V 49 49 missense 0.992 probably damaging 0.02 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1057517840 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674905_7674906de l null R null 50 50 frameshift 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492427 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1057517840 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674905_7674906de l null R null 50 50 frameshift 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000539085 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1057517840 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674905_7674906de l null R null 50 50 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785270 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl rs1429743956 cosmic curated [Cosmic]: breast, [Cosmic]: soft_tissue, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10408409,pubmed:12807758,pubmed:15221786,pubmed:17620607,pubmed:22493262,pubmed:22941189,cosmic_study:376,cosmic_study:417,cosmic_study:424,cosmic_study:582,pubmed:7598762,pubmed:8242631,pubmed:9445137 17p13.1 17 7674906T> A null R * 50 50 missense 1 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1429743956 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine cosmic_study:375,cosmic_study:376 17p13.1 17 7674906T> C null R G 50 50 missense 0.027 benign 0.26 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000771676 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1429743956 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine cosmic_study:375,cosmic_study:376 17p13.1 17 7674906T> C null R G 50 50 missense 0.027 benign 0.26 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001237388 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs587776768 [ClinVar]: Li-Fraumeni syndrome 1 pubmed:1565143,pubmed:8718514 17p13.1 17 7674903_7674904de l null N null 51 51 frameshift 0 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013156 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501200 [ClinVar]: Li-Fraumeni syndrome, [UniProt]: a familial cancer not matching LFS; germline mutation 17p13.1 17 7674903T> A null N Y 51 51 missense 0.05 benign 1.0 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000466733 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501198 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [UniProt]: sporadic cancers; somatic mutation cosmic_study:376,pubmed:7572785,pubmed:8688317 17p13.1 17 7674900T> C null T A 52 52 missense 0.142 benign 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000469438 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501198 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine pubmed:12795343 17p13.1 17 7674900T> G null T P 52 52 missense 0.764 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633327 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs864309495 [ClinVar]: Ovarian Neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674897_7674898de l null F null 53 53 frameshift 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492303 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs864309495 [ClinVar]: Ovarian Neoplasms, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674897_7674898de l null F null 53 53 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785471 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064795766 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:15050734,pubmed:15684603 17p13.1 17 7674897A> T null F I 53 53 missense 0.047 benign 0.39 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492242 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064795766 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:15050734,pubmed:15684603 17p13.1 17 7674897A> T null F I 53 53 missense 0.047 benign 0.39 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000687495 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs864309495 [ClinVar]: Acute megakaryoblastic leukemia 17p13.1 17 7674898de l null R null 54 54 frameshift 1 Acute megakaryoblastic leukemia ClinVar:RCV000202592 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs864309495 [ClinVar]: Acute megakaryoblastic leukemia 17p13.1 17 7674898de l null R null 54 54 frameshift 1 Mediastinal germ cell tumor ClinVar:RCV000202592 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP rs397516436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10070891,pubmed:10070948,pubmed:10203285,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10735894,pubmed:10738270,pubmed:10753186,pubmed:10962443,pubmed:11007040,pubmed:11037343,pubmed:11141476,pubmed:11306496,pubmed:11329143,pubmed:11358811,pubmed:11375957,pubmed:11406538,pubmed:11704866,pubmed:11801555,pubmed:11923604,pubmed:11932899,pubmed:11960918,pubmed:12093899,pubmed:12144684,pubmed:12203794,pubmed:12457032,pubmed:12509970,pubmed:12673679,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:1346255,pubmed:1347252,pubmed:14688025,pubmed:15050734,pubmed:15064998,pubmed:15099937,pubmed:15126338,pubmed:15221786,pubmed:15499621,pubmed:15541116,pubmed:15656799,pubmed:15802015,pubmed:15915369,pubmed:15956964,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16229746,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:1647768,pubmed:16941491,pubmed:16959974,pubmed:17215851,pubmed:17259658,pubmed:1737400,pubmed:17417968,pubmed:17683074,pubmed:17692090,pubmed:17881637,pubmed:17982662,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21103049,pubmed:21380628,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22495314,pubmed:22561517,pubmed:22622578,pubmed:22722201,pubmed:22722829,pubmed:22810696,pubmed:22817889,pubmed:22842228,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23103869,pubmed:23243274,pubmed:23525077,pubmed:23592488,pubmed:23607916,pubmed:23619168,pubmed:23685749,pubmed:23770606,pubmed:23788652,pubmed:23851445,pubmed:23856246,pubmed:23907151,pubmed:24127483,pubmed:24145436,pubmed:24185509,pubmed:24292195,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:385,cosmic_study:388,cosmic_study:396,cosmic_study:401,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:472,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:486,cosmic_study:489,cosmic_study:504,cosmic_study:511,cosmic_study:523,cosmic_study:527,cosmic_study:549,cosmic_study:553,cosmic_study:561,cosmic_study:563,cosmic_study:582,pubmed:7606196,pubmed:7615358,pubmed:7674088,pubmed:7767983,pubmed:7833278,pubmed:7872723,pubmed:7910151,pubmed:8012986,pubmed:8033106,pubmed:8058340,pubmed:8142008,pubmed:8156519,pubmed:8187092,pubmed:8194706,pubmed:8272291,pubmed:8319200,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8639789,pubmed:8761369,pubmed:8797864,pubmed:8821948,pubmed:8950983,pubmed:9036877,pubmed:9099970,pubmed:9115587,pubmed:9354678,pubmed:9485035,pubmed:9568784,pubmed:9622088,pubmed:9635683,pubmed:9807634,pubmed:9815649,pubmed:9823556 17p13.1 17 7674894G> A null R * 54 54 missense 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000115730 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP rs397516436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10070891,pubmed:10070948,pubmed:10203285,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10735894,pubmed:10738270,pubmed:10753186,pubmed:10962443,pubmed:11007040,pubmed:11037343,pubmed:11141476,pubmed:11306496,pubmed:11329143,pubmed:11358811,pubmed:11375957,pubmed:11406538,pubmed:11704866,pubmed:11801555,pubmed:11923604,pubmed:11932899,pubmed:11960918,pubmed:12093899,pubmed:12144684,pubmed:12203794,pubmed:12457032,pubmed:12509970,pubmed:12673679,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:1346255,pubmed:1347252,pubmed:14688025,pubmed:15050734,pubmed:15064998,pubmed:15099937,pubmed:15126338,pubmed:15221786,pubmed:15499621,pubmed:15541116,pubmed:15656799,pubmed:15802015,pubmed:15915369,pubmed:15956964,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16229746,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:1647768,pubmed:16941491,pubmed:16959974,pubmed:17215851,pubmed:17259658,pubmed:1737400,pubmed:17417968,pubmed:17683074,pubmed:17692090,pubmed:17881637,pubmed:17982662,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21103049,pubmed:21380628,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22495314,pubmed:22561517,pubmed:22622578,pubmed:22722201,pubmed:22722829,pubmed:22810696,pubmed:22817889,pubmed:22842228,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23103869,pubmed:23243274,pubmed:23525077,pubmed:23592488,pubmed:23607916,pubmed:23619168,pubmed:23685749,pubmed:23770606,pubmed:23788652,pubmed:23851445,pubmed:23856246,pubmed:23907151,pubmed:24127483,pubmed:24145436,pubmed:24185509,pubmed:24292195,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:385,cosmic_study:388,cosmic_study:396,cosmic_study:401,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:472,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:486,cosmic_study:489,cosmic_study:504,cosmic_study:511,cosmic_study:523,cosmic_study:527,cosmic_study:549,cosmic_study:553,cosmic_study:561,cosmic_study:563,cosmic_study:582,pubmed:7606196,pubmed:7615358,pubmed:7674088,pubmed:7767983,pubmed:7833278,pubmed:7872723,pubmed:7910151,pubmed:8012986,pubmed:8033106,pubmed:8058340,pubmed:8142008,pubmed:8156519,pubmed:8187092,pubmed:8194706,pubmed:8272291,pubmed:8319200,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8639789,pubmed:8761369,pubmed:8797864,pubmed:8821948,pubmed:8950983,pubmed:9036877,pubmed:9099970,pubmed:9115587,pubmed:9354678,pubmed:9485035,pubmed:9568784,pubmed:9622088,pubmed:9635683,pubmed:9807634,pubmed:9815649,pubmed:9823556 17p13.1 17 7674894G> A null R * 54 54 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000036532 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP rs397516436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10070891,pubmed:10070948,pubmed:10203285,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10735894,pubmed:10738270,pubmed:10753186,pubmed:10962443,pubmed:11007040,pubmed:11037343,pubmed:11141476,pubmed:11306496,pubmed:11329143,pubmed:11358811,pubmed:11375957,pubmed:11406538,pubmed:11704866,pubmed:11801555,pubmed:11923604,pubmed:11932899,pubmed:11960918,pubmed:12093899,pubmed:12144684,pubmed:12203794,pubmed:12457032,pubmed:12509970,pubmed:12673679,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:1346255,pubmed:1347252,pubmed:14688025,pubmed:15050734,pubmed:15064998,pubmed:15099937,pubmed:15126338,pubmed:15221786,pubmed:15499621,pubmed:15541116,pubmed:15656799,pubmed:15802015,pubmed:15915369,pubmed:15956964,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16229746,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:1647768,pubmed:16941491,pubmed:16959974,pubmed:17215851,pubmed:17259658,pubmed:1737400,pubmed:17417968,pubmed:17683074,pubmed:17692090,pubmed:17881637,pubmed:17982662,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21103049,pubmed:21380628,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22495314,pubmed:22561517,pubmed:22622578,pubmed:22722201,pubmed:22722829,pubmed:22810696,pubmed:22817889,pubmed:22842228,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23103869,pubmed:23243274,pubmed:23525077,pubmed:23592488,pubmed:23607916,pubmed:23619168,pubmed:23685749,pubmed:23770606,pubmed:23788652,pubmed:23851445,pubmed:23856246,pubmed:23907151,pubmed:24127483,pubmed:24145436,pubmed:24185509,pubmed:24292195,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:385,cosmic_study:388,cosmic_study:396,cosmic_study:401,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:472,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:486,cosmic_study:489,cosmic_study:504,cosmic_study:511,cosmic_study:523,cosmic_study:527,cosmic_study:549,cosmic_study:553,cosmic_study:561,cosmic_study:563,cosmic_study:582,pubmed:7606196,pubmed:7615358,pubmed:7674088,pubmed:7767983,pubmed:7833278,pubmed:7872723,pubmed:7910151,pubmed:8012986,pubmed:8033106,pubmed:8058340,pubmed:8142008,pubmed:8156519,pubmed:8187092,pubmed:8194706,pubmed:8272291,pubmed:8319200,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8639789,pubmed:8761369,pubmed:8797864,pubmed:8821948,pubmed:8950983,pubmed:9036877,pubmed:9099970,pubmed:9115587,pubmed:9354678,pubmed:9485035,pubmed:9568784,pubmed:9622088,pubmed:9635683,pubmed:9807634,pubmed:9815649,pubmed:9823556 17p13.1 17 7674894G> A null R * 54 54 missense 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144672 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP rs397516436 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10070891,pubmed:10070948,pubmed:10203285,pubmed:10348818,pubmed:10408409,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10735894,pubmed:10738270,pubmed:10753186,pubmed:10962443,pubmed:11007040,pubmed:11037343,pubmed:11141476,pubmed:11306496,pubmed:11329143,pubmed:11358811,pubmed:11375957,pubmed:11406538,pubmed:11704866,pubmed:11801555,pubmed:11923604,pubmed:11932899,pubmed:11960918,pubmed:12093899,pubmed:12144684,pubmed:12203794,pubmed:12457032,pubmed:12509970,pubmed:12673679,pubmed:12719725,pubmed:12807758,pubmed:1324794,pubmed:1346255,pubmed:1347252,pubmed:14688025,pubmed:15050734,pubmed:15064998,pubmed:15099937,pubmed:15126338,pubmed:15221786,pubmed:15499621,pubmed:15541116,pubmed:15656799,pubmed:15802015,pubmed:15915369,pubmed:15956964,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16229746,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:1647768,pubmed:16941491,pubmed:16959974,pubmed:17215851,pubmed:17259658,pubmed:1737400,pubmed:17417968,pubmed:17683074,pubmed:17692090,pubmed:17881637,pubmed:17982662,pubmed:18772890,pubmed:18948947,pubmed:19739123,pubmed:20668451,pubmed:21103049,pubmed:21380628,pubmed:21533174,pubmed:21556517,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22495314,pubmed:22561517,pubmed:22622578,pubmed:22722201,pubmed:22722829,pubmed:22810696,pubmed:22817889,pubmed:22842228,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23103869,pubmed:23243274,pubmed:23525077,pubmed:23592488,pubmed:23607916,pubmed:23619168,pubmed:23685749,pubmed:23770606,pubmed:23788652,pubmed:23851445,pubmed:23856246,pubmed:23907151,pubmed:24127483,pubmed:24145436,pubmed:24185509,pubmed:24292195,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:385,cosmic_study:388,cosmic_study:396,cosmic_study:401,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:472,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:486,cosmic_study:489,cosmic_study:504,cosmic_study:511,cosmic_study:523,cosmic_study:527,cosmic_study:549,cosmic_study:553,cosmic_study:561,cosmic_study:563,cosmic_study:582,pubmed:7606196,pubmed:7615358,pubmed:7674088,pubmed:7767983,pubmed:7833278,pubmed:7872723,pubmed:7910151,pubmed:8012986,pubmed:8033106,pubmed:8058340,pubmed:8142008,pubmed:8156519,pubmed:8187092,pubmed:8194706,pubmed:8272291,pubmed:8319200,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8639789,pubmed:8761369,pubmed:8797864,pubmed:8821948,pubmed:8950983,pubmed:9036877,pubmed:9099970,pubmed:9115587,pubmed:9354678,pubmed:9485035,pubmed:9568784,pubmed:9622088,pubmed:9635683,pubmed:9807634,pubmed:9815649,pubmed:9823556 17p13.1 17 7674894G> A null R * 54 54 missense 1 Ovarian Neoplasms ClinVar:RCV000785330 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000438677 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000432206 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Adenoid cystic carcinoma ClinVar:RCV000426157 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000428823 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Carcinoma of esophagus ClinVar:RCV000424254 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Glioblastoma ClinVar:RCV000420272 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000417479 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000444193 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000421524 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000419627 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Nasopharyngeal Neoplasms ClinVar:RCV000437472 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Neoplasm of brain ClinVar:RCV000430949 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000444980 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000425630 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000431481 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000426799 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000428146 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000421648 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000438834 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP rs397516436 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11555594 17p13.1 17 7674894G> C null R G 54 54 missense 0.998 probably damaging 0.02 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000438186 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000439587 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000435132 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Adenoid cystic carcinoma ClinVar:RCV000438469 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000417467 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000428841 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000427240 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000422684 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000439979 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000418814 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000445195 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Nasopharyngeal Neoplasms ClinVar:RCV000443648 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000421737 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000428624 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000422458 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000444469 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000427500 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000428488 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000433789 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000435387 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10427138,pubmed:10637254,pubmed:10748875,pubmed:10754498,pubmed:11191353,pubmed:11595686,pubmed:12370756,pubmed:12648581,pubmed:15126338,pubmed:15611505,pubmed:15682042,pubmed:15802015,pubmed:17259658,pubmed:17692090,pubmed:17727479,pubmed:21103049,pubmed:21822268,pubmed:22722839,pubmed:23026641,pubmed:23907151,pubmed:24121791,pubmed:24121792,cosmic_study:323,cosmic_study:376,cosmic_study:382,cosmic_study:391,cosmic_study:398,cosmic_study:556,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:8187092,pubmed:8513440,pubmed:8934544,pubmed:9036877,pubmed:9738975 17p13.1 17 7674893C> A null R L 54 54 missense 0.995 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000418608 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000418520 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000435742 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Adenoid cystic carcinoma ClinVar:RCV000430230 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000433848 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000441029 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000436779 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000423147 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220461 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000423776 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000431639 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000443926 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Nasopharyngeal Neoplasms ClinVar:RCV000440212 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000425014 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000426111 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000440917 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000424407 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000443850 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000430895 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000419521 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000429975 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587778720 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:11004672,pubmed:15682042,pubmed:16959974,pubmed:17949449,cosmic_study:323,pubmed:8940997 17p13.1 17 7674893C> G null R P 54 54 missense 0.999 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000441598 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000430946 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000430601 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Adenoid cystic carcinoma ClinVar:RCV000444201 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000441015 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000424188 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000420595 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000420908 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130072 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000123099 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144664 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Lip and oral cavity carcinoma ClinVar:RCV001255672 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000432016 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000428223 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000443346 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Nasopharyngeal Neoplasms ClinVar:RCV000432438 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000438230 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000436981 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000430755 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000427005 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000438582 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000425846 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000419636 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000444077 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587778720 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Adenoid cystic carcinoma, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10748875,pubmed:10962865,pubmed:11141476,pubmed:11241240,pubmed:11391594,pubmed:11704866,pubmed:12532420,pubmed:14726385,pubmed:16061860,pubmed:17573896,pubmed:21103049,pubmed:21665242,pubmed:21822264,pubmed:23091298,pubmed:23143597,pubmed:23788652,cosmic_study:329,cosmic_study:352,cosmic_study:375,cosmic_study:413,cosmic_study:416,cosmic_study:419,cosmic_study:438,cosmic_study:527,pubmed:7596184,pubmed:7707106,pubmed:7767983,pubmed:8037181,pubmed:8682586,pubmed:8916968,pubmed:8995554 17p13.1 17 7674893C> T null R Q 54 54 missense 0.994 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000422008 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597368095 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674889_7674890de l null H null 55 55 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001025251 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Chronic lymphocytic leukemia 17p13.1 17 7674890T> A null H L 55 55 missense 0.069 benign 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000437948 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Chronic lymphocytic leukemia 17p13.1 17 7674890T> A null H L 55 55 missense 0.069 benign 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000433885 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Chronic lymphocytic leukemia 17p13.1 17 7674890T> A null H L 55 55 missense 0.069 benign 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000427039 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Chronic lymphocytic leukemia 17p13.1 17 7674890T> A null H L 55 55 missense 0.069 benign 0.0 deleterious 1 Glioblastoma ClinVar:RCV000431675 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Chronic lymphocytic leukemia 17p13.1 17 7674890T> A null H L 55 55 missense 0.069 benign 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000427702 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Chronic lymphocytic leukemia 17p13.1 17 7674890T> A null H L 55 55 missense 0.069 benign 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000440391 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Chronic lymphocytic leukemia 17p13.1 17 7674890T> A null H L 55 55 missense 0.069 benign 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000445284 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Chronic lymphocytic leukemia 17p13.1 17 7674890T> A null H L 55 55 missense 0.069 benign 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000423188 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Chronic lymphocytic leukemia 17p13.1 17 7674890T> A null H L 55 55 missense 0.069 benign 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000444957 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Chronic lymphocytic leukemia 17p13.1 17 7674890T> A null H L 55 55 missense 0.069 benign 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000421427 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658466 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674891G> T null H N 55 55 missense 0.218 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214223 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658466 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674891G> T null H N 55 55 missense 0.218 benign 0.01 deleterious 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000803678 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: stomach, [UniProt]: a sporadic cancer; somatic mutation pubmed:22037554,cosmic_study:479 17p13.1 17 7674890T> G null H P 55 55 missense 0.904 possibly damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000796697 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587781386 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation pubmed:11044641,pubmed:7917901,pubmed:8238255,pubmed:9120719 17p13.1 17 7674889A> C null H Q 55 55 missense 0.069 benign 1.0 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129218 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587781386 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation pubmed:11044641,pubmed:7917901,pubmed:8238255,pubmed:9120719 17p13.1 17 7674889A> C null H Q 55 55 missense 0.069 benign 1.0 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000195927 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587781386 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation pubmed:11044641,pubmed:7917901,pubmed:8238255,pubmed:9120719 17p13.1 17 7674889A> C null H Q 55 55 missense 0.069 benign 1.0 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000410083 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587781386 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation pubmed:11044641,pubmed:7917901,pubmed:8238255,pubmed:9120719 17p13.1 17 7674889A> C null H Q 55 55 missense 0.069 benign 1.0 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000989716 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000427653 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Carcinoma of esophagus ClinVar:RCV000422504 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000445232 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Glioblastoma ClinVar:RCV000439733 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000428396 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492372 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000477234 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000435583 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000429736 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000429028 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000417658 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519992 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10212000,pubmed:10656431,pubmed:10951339,pubmed:11004672,pubmed:12457032,pubmed:12483005,pubmed:14583777,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14716513,pubmed:15073856,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:15778432,pubmed:16183105,pubmed:16570275,pubmed:17350822,pubmed:17692090,pubmed:17982662,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21533448,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22634756,pubmed:22705117,pubmed:22941189,pubmed:23143597,pubmed:23196062,pubmed:23415222,pubmed:23525077,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:376,cosmic_study:403,cosmic_study:413,cosmic_study:424,cosmic_study:438,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:583,pubmed:7767998,pubmed:8009954,pubmed:8020137,pubmed:8108145,pubmed:8242631,pubmed:8306343,pubmed:8311114,pubmed:8542583,pubmed:8934544,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9796697 17p13.1 17 7674890T> C null H R 55 55 missense 0.317 benign 0.02 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000418330 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567551402 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674888du p null S null 56 56 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785298 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525759 17p13.1 17 7674887_7674888du p null S null 56 56 frameshift 0 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000445278 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000427564 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Carcinoma of esophagus ClinVar:RCV000437324 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000430142 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772138 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000700891 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000419408 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000436667 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785239 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000429054 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000439730 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:10674608,pubmed:15138567,pubmed:15492791,pubmed:15564288,cosmic_study:328,cosmic_study:377,cosmic_study:583,pubmed:8080737,pubmed:8932338 17p13.1 17 7674888T> C null S G 56 56 missense 0.974 probably damaging 0.02 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000418361 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10735894,pubmed:11857392,pubmed:12807758,pubmed:15492791,pubmed:15761872,pubmed:16322298,pubmed:16461462,pubmed:17133269,pubmed:17573896,pubmed:18948947,pubmed:20668451,pubmed:22941189,pubmed:22980975,pubmed:23262782,pubmed:23441165,cosmic_study:338,cosmic_study:341,cosmic_study:414,cosmic_study:424,cosmic_study:431,cosmic_study:474,pubmed:8319218,pubmed:9212217,pubmed:9354678 17p13.1 17 7674887C> A null S I 56 56 missense 0.999 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000429840 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10735894,pubmed:11857392,pubmed:12807758,pubmed:15492791,pubmed:15761872,pubmed:16322298,pubmed:16461462,pubmed:17133269,pubmed:17573896,pubmed:18948947,pubmed:20668451,pubmed:22941189,pubmed:22980975,pubmed:23262782,pubmed:23441165,cosmic_study:338,cosmic_study:341,cosmic_study:414,cosmic_study:424,cosmic_study:431,cosmic_study:474,pubmed:8319218,pubmed:9212217,pubmed:9354678 17p13.1 17 7674887C> A null S I 56 56 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000433950 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10735894,pubmed:11857392,pubmed:12807758,pubmed:15492791,pubmed:15761872,pubmed:16322298,pubmed:16461462,pubmed:17133269,pubmed:17573896,pubmed:18948947,pubmed:20668451,pubmed:22941189,pubmed:22980975,pubmed:23262782,pubmed:23441165,cosmic_study:338,cosmic_study:341,cosmic_study:414,cosmic_study:424,cosmic_study:431,cosmic_study:474,pubmed:8319218,pubmed:9212217,pubmed:9354678 17p13.1 17 7674887C> A null S I 56 56 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000441630 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10735894,pubmed:11857392,pubmed:12807758,pubmed:15492791,pubmed:15761872,pubmed:16322298,pubmed:16461462,pubmed:17133269,pubmed:17573896,pubmed:18948947,pubmed:20668451,pubmed:22941189,pubmed:22980975,pubmed:23262782,pubmed:23441165,cosmic_study:338,cosmic_study:341,cosmic_study:414,cosmic_study:424,cosmic_study:431,cosmic_study:474,pubmed:8319218,pubmed:9212217,pubmed:9354678 17p13.1 17 7674887C> A null S I 56 56 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000420881 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10735894,pubmed:11857392,pubmed:12807758,pubmed:15492791,pubmed:15761872,pubmed:16322298,pubmed:16461462,pubmed:17133269,pubmed:17573896,pubmed:18948947,pubmed:20668451,pubmed:22941189,pubmed:22980975,pubmed:23262782,pubmed:23441165,cosmic_study:338,cosmic_study:341,cosmic_study:414,cosmic_study:424,cosmic_study:431,cosmic_study:474,pubmed:8319218,pubmed:9212217,pubmed:9354678 17p13.1 17 7674887C> A null S I 56 56 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001025280 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10735894,pubmed:11857392,pubmed:12807758,pubmed:15492791,pubmed:15761872,pubmed:16322298,pubmed:16461462,pubmed:17133269,pubmed:17573896,pubmed:18948947,pubmed:20668451,pubmed:22941189,pubmed:22980975,pubmed:23262782,pubmed:23441165,cosmic_study:338,cosmic_study:341,cosmic_study:414,cosmic_study:424,cosmic_study:431,cosmic_study:474,pubmed:8319218,pubmed:9212217,pubmed:9354678 17p13.1 17 7674887C> A null S I 56 56 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000423272 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10735894,pubmed:11857392,pubmed:12807758,pubmed:15492791,pubmed:15761872,pubmed:16322298,pubmed:16461462,pubmed:17133269,pubmed:17573896,pubmed:18948947,pubmed:20668451,pubmed:22941189,pubmed:22980975,pubmed:23262782,pubmed:23441165,cosmic_study:338,cosmic_study:341,cosmic_study:414,cosmic_study:424,cosmic_study:431,cosmic_study:474,pubmed:8319218,pubmed:9212217,pubmed:9354678 17p13.1 17 7674887C> A null S I 56 56 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000435696 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10735894,pubmed:11857392,pubmed:12807758,pubmed:15492791,pubmed:15761872,pubmed:16322298,pubmed:16461462,pubmed:17133269,pubmed:17573896,pubmed:18948947,pubmed:20668451,pubmed:22941189,pubmed:22980975,pubmed:23262782,pubmed:23441165,cosmic_study:338,cosmic_study:341,cosmic_study:414,cosmic_study:424,cosmic_study:431,cosmic_study:474,pubmed:8319218,pubmed:9212217,pubmed:9354678 17p13.1 17 7674887C> A null S I 56 56 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785347 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10735894,pubmed:11857392,pubmed:12807758,pubmed:15492791,pubmed:15761872,pubmed:16322298,pubmed:16461462,pubmed:17133269,pubmed:17573896,pubmed:18948947,pubmed:20668451,pubmed:22941189,pubmed:22980975,pubmed:23262782,pubmed:23441165,cosmic_study:338,cosmic_study:341,cosmic_study:414,cosmic_study:424,cosmic_study:431,cosmic_study:474,pubmed:8319218,pubmed:9212217,pubmed:9354678 17p13.1 17 7674887C> A null S I 56 56 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000440493 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10735894,pubmed:11857392,pubmed:12807758,pubmed:15492791,pubmed:15761872,pubmed:16322298,pubmed:16461462,pubmed:17133269,pubmed:17573896,pubmed:18948947,pubmed:20668451,pubmed:22941189,pubmed:22980975,pubmed:23262782,pubmed:23441165,cosmic_study:338,cosmic_study:341,cosmic_study:414,cosmic_study:424,cosmic_study:431,cosmic_study:474,pubmed:8319218,pubmed:9212217,pubmed:9354678 17p13.1 17 7674887C> A null S I 56 56 missense 0.999 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000430889 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 NCI-TCGA Cosmic [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10735894,pubmed:11857392,pubmed:12807758,pubmed:15492791,pubmed:15761872,pubmed:16322298,pubmed:16461462,pubmed:17133269,pubmed:17573896,pubmed:18948947,pubmed:20668451,pubmed:22941189,pubmed:22980975,pubmed:23262782,pubmed:23441165,cosmic_study:338,cosmic_study:341,cosmic_study:414,cosmic_study:424,cosmic_study:431,cosmic_study:474,pubmed:8319218,pubmed:9212217,pubmed:9354678 17p13.1 17 7674887C> A null S I 56 56 missense 0.999 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000420217 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:15057748,pubmed:15523690,pubmed:15802015,pubmed:22561520,pubmed:24375041,cosmic_study:409,pubmed:8093350 17p13.1 17 7674887C> T null S N 56 56 missense 0.965 probably damaging 0.03 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000423774 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:15057748,pubmed:15523690,pubmed:15802015,pubmed:22561520,pubmed:24375041,cosmic_study:409,pubmed:8093350 17p13.1 17 7674887C> T null S N 56 56 missense 0.965 probably damaging 0.03 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000443221 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:15057748,pubmed:15523690,pubmed:15802015,pubmed:22561520,pubmed:24375041,cosmic_study:409,pubmed:8093350 17p13.1 17 7674887C> T null S N 56 56 missense 0.965 probably damaging 0.03 deleterious 1 Carcinoma of esophagus ClinVar:RCV000432107 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:15057748,pubmed:15523690,pubmed:15802015,pubmed:22561520,pubmed:24375041,cosmic_study:409,pubmed:8093350 17p13.1 17 7674887C> T null S N 56 56 missense 0.965 probably damaging 0.03 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000422423 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:15057748,pubmed:15523690,pubmed:15802015,pubmed:22561520,pubmed:24375041,cosmic_study:409,pubmed:8093350 17p13.1 17 7674887C> T null S N 56 56 missense 0.965 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492171 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:15057748,pubmed:15523690,pubmed:15802015,pubmed:22561520,pubmed:24375041,cosmic_study:409,pubmed:8093350 17p13.1 17 7674887C> T null S N 56 56 missense 0.965 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000816006 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:15057748,pubmed:15523690,pubmed:15802015,pubmed:22561520,pubmed:24375041,cosmic_study:409,pubmed:8093350 17p13.1 17 7674887C> T null S N 56 56 missense 0.965 probably damaging 0.03 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000442434 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:15057748,pubmed:15523690,pubmed:15802015,pubmed:22561520,pubmed:24375041,cosmic_study:409,pubmed:8093350 17p13.1 17 7674887C> T null S N 56 56 missense 0.965 probably damaging 0.03 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000434496 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:15057748,pubmed:15523690,pubmed:15802015,pubmed:22561520,pubmed:24375041,cosmic_study:409,pubmed:8093350 17p13.1 17 7674887C> T null S N 56 56 missense 0.965 probably damaging 0.03 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000427974 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:15057748,pubmed:15523690,pubmed:15802015,pubmed:22561520,pubmed:24375041,cosmic_study:409,pubmed:8093350 17p13.1 17 7674887C> T null S N 56 56 missense 0.965 probably damaging 0.03 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000421424 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:15057748,pubmed:15523690,pubmed:15802015,pubmed:22561520,pubmed:24375041,cosmic_study:409,pubmed:8093350 17p13.1 17 7674887C> T null S N 56 56 missense 0.965 probably damaging 0.03 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000438643 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000442610 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000421044 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000439391 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000437603 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000465501 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662560 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000442691 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000422178 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785463 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425174 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000431745 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520001 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674886A> C null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000432876 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs886039484 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: stomach, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [Cosmic]: lung pubmed:12093899,pubmed:12807758,pubmed:15363320,pubmed:16024113,pubmed:16821082,pubmed:16941491,pubmed:16996204,pubmed:17417968,pubmed:17692090,pubmed:17881637,pubmed:20668451,pubmed:21720365,pubmed:21796119,pubmed:23525077,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:414,cosmic_study:440,cosmic_study:464,pubmed:7930674,pubmed:9460999,pubmed:9886570 17p13.1 17 7674888T> G null S R 56 56 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492567 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:15523690,pubmed:15564288,pubmed:9284834 17p13.1 17 7674887C> G null S T 56 56 missense 0.944 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130796 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782177 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:15523690,pubmed:15564288,pubmed:9284834 17p13.1 17 7674887C> G null S T 56 56 missense 0.944 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001058920 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:14618621,pubmed:16322298,pubmed:7928628 17p13.1 17 7674884A> T null V E 57 57 missense 0.994 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000424832 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:14618621,pubmed:16322298,pubmed:7928628 17p13.1 17 7674884A> T null V E 57 57 missense 0.994 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000429825 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:14618621,pubmed:16322298,pubmed:7928628 17p13.1 17 7674884A> T null V E 57 57 missense 0.994 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000419558 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:14618621,pubmed:16322298,pubmed:7928628 17p13.1 17 7674884A> T null V E 57 57 missense 0.994 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000440944 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:14618621,pubmed:16322298,pubmed:7928628 17p13.1 17 7674884A> T null V E 57 57 missense 0.994 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000434860 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:14618621,pubmed:16322298,pubmed:7928628 17p13.1 17 7674884A> T null V E 57 57 missense 0.994 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000418104 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:14618621,pubmed:16322298,pubmed:7928628 17p13.1 17 7674884A> T null V E 57 57 missense 0.994 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000429571 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:14618621,pubmed:16322298,pubmed:7928628 17p13.1 17 7674884A> T null V E 57 57 missense 0.994 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000439819 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:14618621,pubmed:16322298,pubmed:7928628 17p13.1 17 7674884A> T null V E 57 57 missense 0.994 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000436131 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10779196,pubmed:14618621,pubmed:16322298,pubmed:7928628 17p13.1 17 7674884A> T null V E 57 57 missense 0.994 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000423283 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:16459017,pubmed:17982662,pubmed:21720365,cosmic_study:331,cosmic_study:376 17p13.1 17 7674884A> C null V G 57 57 missense 0.997 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000433620 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:16459017,pubmed:17982662,pubmed:21720365,cosmic_study:331,cosmic_study:376 17p13.1 17 7674884A> C null V G 57 57 missense 0.997 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000422282 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:16459017,pubmed:17982662,pubmed:21720365,cosmic_study:331,cosmic_study:376 17p13.1 17 7674884A> C null V G 57 57 missense 0.997 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001202958 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:16459017,pubmed:17982662,pubmed:21720365,cosmic_study:331,cosmic_study:376 17p13.1 17 7674884A> C null V G 57 57 missense 0.997 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000442920 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:16459017,pubmed:17982662,pubmed:21720365,cosmic_study:331,cosmic_study:376 17p13.1 17 7674884A> C null V G 57 57 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000440155 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:16459017,pubmed:17982662,pubmed:21720365,cosmic_study:331,cosmic_study:376 17p13.1 17 7674884A> C null V G 57 57 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000439990 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:16459017,pubmed:17982662,pubmed:21720365,cosmic_study:331,cosmic_study:376 17p13.1 17 7674884A> C null V G 57 57 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000433417 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:16459017,pubmed:17982662,pubmed:21720365,cosmic_study:331,cosmic_study:376 17p13.1 17 7674884A> C null V G 57 57 missense 0.997 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000442891 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:16459017,pubmed:17982662,pubmed:21720365,cosmic_study:331,cosmic_study:376 17p13.1 17 7674884A> C null V G 57 57 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000423344 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:16459017,pubmed:17982662,pubmed:21720365,cosmic_study:331,cosmic_study:376 17p13.1 17 7674884A> C null V G 57 57 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000427043 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520004 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:16459017,pubmed:17982662,pubmed:21720365,cosmic_study:331,cosmic_study:376 17p13.1 17 7674884A> C null V G 57 57 missense 0.997 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000424582 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Carcinoma of esophagus ClinVar:RCV000422099 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Glioblastoma ClinVar:RCV000426649 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001042741 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000427972 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Neoplasm of brain ClinVar:RCV000420083 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000431215 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785309 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000417716 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000442710 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000439081 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000437980 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> A null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000437749 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11595686,pubmed:12032228,pubmed:15802015,cosmic_study:376,pubmed:8156519,pubmed:9614374,pubmed:9662254 17p13.1 17 7674885C> G null V L 57 57 missense 0.509 possibly damaging 0.04 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000466409 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000438503 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000443170 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561534 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000168150 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663213 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000432944 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000424101 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000421726 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785523 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000421819 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000431843 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000444190 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000428263 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:17224074 pubmed:10091733,pubmed:10348818,pubmed:10499619,pubmed:11325447,pubmed:11375957,pubmed:11388392,pubmed:11555594,pubmed:11590071,pubmed:11592095,pubmed:11960918,pubmed:12032228,pubmed:12093899,pubmed:12181274,pubmed:12673679,pubmed:12807758,pubmed:1499939,pubmed:15073856,pubmed:15221786,pubmed:15523690,pubmed:15710230,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16572201,pubmed:17417968,pubmed:17881637,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21512767,pubmed:21720365,pubmed:22210878,pubmed:22609129,pubmed:22877736,pubmed:23292937,pubmed:23407552,pubmed:23525077,pubmed:23917401,pubmed:24190505,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:414,cosmic_study:417,cosmic_study:448,cosmic_study:464,cosmic_study:473,cosmic_study:482,cosmic_study:488,cosmic_study:518,cosmic_study:552,pubmed:7833278,pubmed:8033152,pubmed:8156519,pubmed:8198970,pubmed:8242638,pubmed:8402617,pubmed:8569192,pubmed:8625484,pubmed:9683299,pubmed:9792155,pubmed:9807634,pubmed:9815649 17p13.1 17 7674885C> T null V M 57 57 missense 0.995 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000436614 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs35163653 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674882C> T null V M 58 58 missense 0.944 probably damaging 0.21 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000161936 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs786202315 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674865_7674880de l null V null 59 59 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165061 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567551279 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674883_7674887du p null V null 59 59 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785273 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525743 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10416986,pubmed:14580680,pubmed:14618621,pubmed:16647949,pubmed:9703286 17p13.1 17 7674878A> C null V G 59 59 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001175697 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525743 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10416986,pubmed:14580680,pubmed:14618621,pubmed:16647949,pubmed:9703286 17p13.1 17 7674878A> C null V G 59 59 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633350 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs878854072 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: soft_tissue, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: peritoneum, [UniProt]: sporadic cancers; somatic mutation pubmed:10728699,pubmed:14962108,pubmed:8542583,pubmed:9445137 17p13.1 17 7674879C> T null V M 59 59 missense 0.998 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000228072 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597367938 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674877_7674879CAC[2 ] null V null 59 59 inframe deletion 1 Ovarian Neoplasms ClinVar:RCV000785492 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525710 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674863_7674878de l null P null 60 60 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569731 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1420675064 cosmic curated [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation pubmed:12713560,pubmed:9554525 17p13.1 17 7674875G> A null P L 60 60 missense 0.998 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001025418 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs879253894 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11004672,pubmed:11948487,pubmed:15643509,pubmed:9445137 17p13.1 17 7674876G> A null P S 60 60 missense 0.92 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492115 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs879253894 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11004672,pubmed:11948487,pubmed:15643509,pubmed:9445137 17p13.1 17 7674876G> A null P S 60 60 missense 0.92 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001065230 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs879253894 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11004672,pubmed:11948487,pubmed:15643509,pubmed:9445137 17p13.1 17 7674876G> A null P S 60 60 missense 0.92 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000576805 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567551150 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10393358,pubmed:10671690,pubmed:15073856,pubmed:23196062 17p13.1 17 7674871A> T null Y * 61 61 missense 1 Ovarian Neoplasms ClinVar:RCV000785516 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs876658144 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674869_7674877de l null Y null 61 63 inframe deletion 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222764 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000439645 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000434614 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000434300 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000417417 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000439456 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000115731 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000232050 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000442230 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000425869 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000423111 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000435063 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000423624 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000444717 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785544 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000418951 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000440244 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000428791 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000423029 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000444814 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000433936 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000425193 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:7682763,pubmed:9450901 pubmed:10203285,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10506718,pubmed:10519384,pubmed:10582680,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10753186,pubmed:10754498,pubmed:10830574,pubmed:10835493,pubmed:10896202,pubmed:10948316,pubmed:10962443,pubmed:11079169,pubmed:11141476,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306511,pubmed:11308256,pubmed:11325447,pubmed:11371136,pubmed:11388392,pubmed:11406538,pubmed:11406645,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11857392,pubmed:12114798,pubmed:12115559,pubmed:12404284,pubmed:12648581,pubmed:12649174,pubmed:12749268,pubmed:12972634,pubmed:1312896,pubmed:1324794,pubmed:1327523,pubmed:14618621,pubmed:14697642,pubmed:15017592,pubmed:15064998,pubmed:15073856,pubmed:15099937,pubmed:15161705,pubmed:15221786,pubmed:15257941,pubmed:15308588,pubmed:15564288,pubmed:16007576,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1630814,pubmed:16322298,pubmed:16459017,pubmed:16528528,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:17350822,pubmed:17388661,pubmed:17417968,pubmed:17437012,pubmed:17456604,pubmed:17573896,pubmed:17692090,pubmed:1778765,pubmed:18025850,pubmed:18772890,pubmed:18948947,pubmed:1923503,pubmed:20668451,pubmed:21380628,pubmed:21409490,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21796119,pubmed:21798893,pubmed:21798897,pubmed:22163003,pubmed:22210878,pubmed:22286061,pubmed:22361929,pubmed:22493262,pubmed:22495314,pubmed:22722201,pubmed:22722839,pubmed:22844452,pubmed:22877736,pubmed:22922871,pubmed:22941189,pubmed:23026641,pubmed:23349305,pubmed:23407552,pubmed:23619168,pubmed:23832012,pubmed:23851445,pubmed:23917401,pubmed:24121791,pubmed:24667986,pubmed:24797764,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:366,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:430,cosmic_study:448,cosmic_study:473,cosmic_study:488,cosmic_study:520,cosmic_study:552,cosmic_study:556,cosmic_study:561,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7674088,pubmed:7712430,pubmed:7777479,pubmed:7903205,pubmed:7909871,pubmed:8012986,pubmed:8033152,pubmed:8037181,pubmed:8073440,pubmed:8317886,pubmed:8392033,pubmed:8402617,pubmed:8481915,pubmed:8551805,pubmed:8655958,pubmed:8688317,pubmed:8916968,pubmed:8934544,pubmed:9000573,pubmed:9052405,pubmed:9115587,pubmed:9138659,pubmed:9231161,pubmed:9270015,pubmed:9354678,pubmed:9445137,pubmed:9450901,pubmed:9459157,pubmed:9655287,pubmed:9665415,pubmed:9815649,pubmed:9823556 17p13.1 17 7674872T> C null Y C 61 61 missense 0.991 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000436553 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000444915 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000430837 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000425315 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000428144 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000444073 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000418779 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000440413 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000437034 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000417982 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000418575 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000427506 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000436457 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000433449 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000434918 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000426793 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000441127 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000424311 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14719105,cosmic_study:328 17p13.1 17 7674873A> C null Y D 61 61 2.0E-4 missense 0.983 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000431034 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs876660749 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674866_7674877de l null Y null 61 64 inframe deletion 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222898 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Adenocarcinoma of prostate ClinVar:RCV000422371 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Adenocarcinoma of stomach ClinVar:RCV000440468 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Glioblastoma ClinVar:RCV000420142 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000422197 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566866 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001215103 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000444451 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000425148 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Malignant neoplasm of body of uterus ClinVar:RCV000440668 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Neoplasm of brain ClinVar:RCV000431076 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000417798 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000433089 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Ovarian Neoplasms ClinVar:RCV000785254 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000420004 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Pancreatic adenocarcinoma ClinVar:RCV000439425 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000435010 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000436002 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Small cell lung cancer MIM:182280 ClinVar:RCV000438238 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000430823 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Squamous cell lung carcinoma ClinVar:RCV000431992 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11329143,pubmed:11929815,pubmed:1638540,pubmed:17683074,pubmed:22493262,pubmed:22877736,pubmed:23091298,cosmic_study:414,cosmic_study:448,pubmed:8033087,pubmed:9796697 17p13.1 17 7674873A> G null Y H 61 61 2.0E-4 missense 0.989 probably damaging 0.07 tolerated 1 Uterine Carcinosarcoma ClinVar:RCV000444634 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000419021 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000421037 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000424584 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000443812 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570507 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000426310 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000434035 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000439357 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000427847 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000429130 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000429300 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000434427 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000437403 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000438838 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000438068 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000423767 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000419702 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000419523 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs530941076 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11375957,pubmed:12807758,pubmed:14962108,pubmed:16821082,pubmed:23788652,pubmed:24423316,cosmic_study:322,cosmic_study:328,cosmic_study:527,pubmed:7768632,pubmed:8697989,pubmed:9262496,pubmed:9568784 17p13.1 17 7674873A> T null Y N 61 61 2.0E-4 missense 0.963 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000432093 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000428157 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000445060 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Glioblastoma ClinVar:RCV000444276 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000423167 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000472593 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013183 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000422874 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000432708 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000435597 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Neoplasm of brain ClinVar:RCV000443214 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000429097 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000441465 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785481 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425300 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000424238 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000441285 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000417473 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000430581 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000425801 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000418406 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912666 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10728699,pubmed:11229518,pubmed:11375957,pubmed:15064998,pubmed:15977174,pubmed:17259658,pubmed:22561517,cosmic_study:396,cosmic_study:414,pubmed:7872723,pubmed:8402617,pubmed:9354678 17p13.1 17 7674872T> G null Y S 61 61 missense 0.919 probably damaging 0.02 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000433786 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs878854071 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674869de l null E null 62 62 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492096 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs878854071 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674869de l null E null 62 62 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000234225 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786201592 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10735894,pubmed:11325447,pubmed:11375957,pubmed:16818615,pubmed:21798893,cosmic_study:331,cosmic_study:349,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:582,pubmed:9851256 17p13.1 17 7674870C> A null E * 62 62 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000794857 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786201592 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10735894,pubmed:11325447,pubmed:11375957,pubmed:16818615,pubmed:21798893,cosmic_study:331,cosmic_study:349,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:582,pubmed:9851256 17p13.1 17 7674870C> A null E * 62 62 missense 1 Ovarian Neoplasms ClinVar:RCV000785468 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567551121 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674869T> G null E A 62 62 missense 0.626 possibly damaging 0.01 deleterious 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000695405 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786201592 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: vulva, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: salivary_gland pubmed:11251174,pubmed:8995554 17p13.1 17 7674870C> T null E K 62 62 missense 0.536 possibly damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163935 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs786201592 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: vulva, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: salivary_gland pubmed:11251174,pubmed:8995554 17p13.1 17 7674870C> T null E K 62 62 missense 0.536 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000528158 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567551073 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674867de l null P null 63 63 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785327 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs146340390 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation pubmed:11051241,pubmed:11699208,pubmed:15145527,pubmed:7997263 17p13.1 17 7674866G> A null P L 63 63 missense 0.313 benign 0.17 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000161032 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs146340390 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation pubmed:11051241,pubmed:11699208,pubmed:15145527,pubmed:7997263 17p13.1 17 7674866G> A null P L 63 63 missense 0.313 benign 0.17 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000148907 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs146340390 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation pubmed:11051241,pubmed:11699208,pubmed:15145527,pubmed:7997263 17p13.1 17 7674866G> A null P L 63 63 missense 0.313 benign 0.17 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411498 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs146340390 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation pubmed:11051241,pubmed:11699208,pubmed:15145527,pubmed:7997263 17p13.1 17 7674866G> A null P L 63 63 missense 0.313 benign 0.17 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000989715 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1060501203 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: thymus, [UniProt]: sporadic cancers; somatic mutation pubmed:8542583,pubmed:9374384 17p13.1 17 7674867G> A null P S 63 63 missense 0.006 benign 0.21 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564109 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1060501203 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: thymus, [UniProt]: sporadic cancers; somatic mutation pubmed:8542583,pubmed:9374384 17p13.1 17 7674867G> A null P S 63 63 missense 0.006 benign 0.21 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000477098 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,dbSNP rs138983188 cosmic curated [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10089975,pubmed:8866234 17p13.1 17 7674863G> T null P H 64 64 missense 0.995 probably damaging 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,dbSNP rs138983188 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: meninges, [Cosmic]: prostate, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:15691789,pubmed:17079356,pubmed:23856246,cosmic_study:504 17p13.1 17 7674863G> A null P L 64 64 missense 0.703 possibly damaging 0.04 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223388 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,dbSNP rs138983188 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: meninges, [Cosmic]: prostate, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:15691789,pubmed:17079356,pubmed:23856246,cosmic_study:504 17p13.1 17 7674863G> A null P L 64 64 missense 0.703 possibly damaging 0.04 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633401 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1131691028 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674860T> G null E A 65 65 missense 0.123 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492340 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1131691028 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674860T> G null E A 65 65 missense 0.123 benign 0.0 deleterious 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001228399 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs267605076 cosmic curated [Cosmic]: breast, [Cosmic]: bone, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10830574,pubmed:12001123,pubmed:12972634,pubmed:14672397,pubmed:16157203,pubmed:17573896,pubmed:20668451,pubmed:21103049,pubmed:22941189,pubmed:22975805,cosmic_study:338,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:424,cosmic_study:453,pubmed:8781571,pubmed:9796697 17p13.1 17 7674859C> A null E D 65 65 missense 0.201 benign 0.02 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1131691028 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674860T> C null E G 65 65 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001025571 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525707 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11241240,pubmed:11668479,pubmed:8934544,pubmed:9649138 17p13.1 17 7674861C> T null E K 65 65 missense 0.089 benign 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573879 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746504075 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract pubmed:8621246 17p13.1 17 7674290C> T null V I 66 66 missense 0.001 benign 0.08 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571914 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746504075 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract pubmed:8621246 17p13.1 17 7674290C> T null V I 66 66 missense 0.001 benign 0.08 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001216966 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746504075 [UniProt]: a sporadic cancer; somatic mutation 17p13.1 17 7674290C> G null V L 66 66 missense 0.015 benign 0.16 tolerated 0 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567550076 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674289de l null G null 67 67 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785269 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597365543 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674287C> T null G S 67 67 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000802667 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs970212462 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11929815,pubmed:16645236,pubmed:17557246 17p13.1 17 7674286C> A null G V 67 67 missense 0.951 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572327 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs970212462 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11929815,pubmed:16645236,pubmed:17557246 17p13.1 17 7674286C> A null G V 67 67 missense 0.951 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000542075 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567550018 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674283de l null S null 68 68 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785280 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567550002 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674282du p null D * 69 69 stop gained 1 Ovarian Neoplasms ClinVar:RCV000785306 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs730882016 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674273_7674280de l null C null 70 70 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000161057 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1064794312 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10615230,pubmed:14719105 17p13.1 17 7674278A> G null C R 70 70 missense 0.104 benign 0.31 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492777 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1064794312 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10615230,pubmed:14719105 17p13.1 17 7674278A> G null C R 70 70 missense 0.104 benign 0.31 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633388 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064793603 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine pubmed:11180073,pubmed:1945416 17p13.1 17 7674277C> G null C S 70 70 missense 0.007 benign 0.39 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000706342 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064793603 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:7882357,pubmed:8242638 17p13.1 17 7674277C> T null C Y 70 70 missense 0.009 benign 1.0 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775944 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064793603 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:7882357,pubmed:8242638 17p13.1 17 7674277C> T null C Y 70 70 missense 0.009 benign 1.0 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001215783 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525564 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [Cosmic]: biliary_tract, [UniProt]: sporadic cancers; somatic mutation cosmic_study:376,pubmed:9568784,pubmed:9851256 17p13.1 17 7674271G> A null T I 72 72 missense 0.73 possibly damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000552433 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525562 cosmic curated [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10212000 17p13.1 17 7674269T> G null I L 73 73 missense 0.019 benign 0.05 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567074 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781589 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver pubmed:11051249,pubmed:22877736,pubmed:23104868,cosmic_study:376,cosmic_study:414,cosmic_study:448,cosmic_study:454,pubmed:8934544 17p13.1 17 7674268A> C null I S 73 73 missense 0.51 possibly damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785478 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781589 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [UniProt]: sporadic cancers; somatic mutation pubmed:12217802,pubmed:15761872,pubmed:16007576,pubmed:22895193,pubmed:23873848,cosmic_study:419,cosmic_study:452,pubmed:7572785 17p13.1 17 7674268A> G null I T 73 73 missense 0.051 benign 0.01 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129637 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567549676 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674249_7674261de l null H * 74 75 stop gained 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000696660 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs879254233 cosmic curated [Cosmic]: pleura, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:12064559 17p13.1 17 7674265T> C null H R 74 74 missense 0.037 benign 0.01 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569303 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000432406 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000444325 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000435258 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000422171 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000420460 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000430670 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492245 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000200601 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000420651 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000425220 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785536 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000435287 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000433924 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000444475 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000438314 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10582680,pubmed:10830574,pubmed:10896202,pubmed:11051241,pubmed:11079169,pubmed:11406538,pubmed:11485021,pubmed:11557779,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11929815,pubmed:12217802,pubmed:12375013,pubmed:12890146,pubmed:1324794,pubmed:14618621,pubmed:14697642,pubmed:15305417,pubmed:15564288,pubmed:15922892,pubmed:15930341,pubmed:16000567,pubmed:16061860,pubmed:16322298,pubmed:16416221,pubmed:1656362,pubmed:16572201,pubmed:16647949,pubmed:16847456,pubmed:17917588,pubmed:18772396,pubmed:18772397,pubmed:1923532,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:21822268,pubmed:22722201,pubmed:22941188,pubmed:23265383,pubmed:23788652,pubmed:23917401,pubmed:24121792,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:376,cosmic_study:385,cosmic_study:398,cosmic_study:414,cosmic_study:416,cosmic_study:418,cosmic_study:423,cosmic_study:450,cosmic_study:527,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:582,pubmed:7777479,pubmed:7928628,pubmed:7952630,pubmed:8119770,pubmed:8402617,pubmed:8630877,pubmed:8639789,pubmed:8910623,pubmed:9043035,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9413950,pubmed:9649138,pubmed:9650746,pubmed:9796697,pubmed:9846966 17p13.1 17 7674262T> C null Y C 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000445147 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000418073 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000424345 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000435222 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Carcinoma of esophagus ClinVar:RCV000425587 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Glioblastoma ClinVar:RCV000433328 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000430896 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492197 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000204217 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000440475 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000424462 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000445176 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000445265 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000432845 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000423238 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:16174251,cosmic_study:371,pubmed:8075648,pubmed:8824725 17p13.1 17 7674263A> C null Y D 75 75 missense 0.996 probably damaging 0.02 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000433956 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000431867 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000418604 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000426894 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000428164 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000427499 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000419222 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492782 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000530551 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000438411 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000439967 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785304 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000421640 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000436907 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000418790 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000437128 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10675480,pubmed:10835493,pubmed:10918210,pubmed:12921629,pubmed:14962108,pubmed:15956964,pubmed:16094622,pubmed:19739123,pubmed:20668451,pubmed:22722839,pubmed:22895193,pubmed:22975805,pubmed:23143597,pubmed:24375041,cosmic_study:323,cosmic_study:338,cosmic_study:391,cosmic_study:416,cosmic_study:438,cosmic_study:452,cosmic_study:453,pubmed:8437842,pubmed:8579126 17p13.1 17 7674263A> G null Y H 75 75 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000441352 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000426512 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000439167 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000418444 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000428072 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000434769 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000433276 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001025925 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000809457 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000417830 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000444893 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000436336 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000426109 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000444101 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000436114 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs864622237 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11336244,pubmed:15492791,pubmed:15682042,pubmed:17683074,pubmed:17881637,pubmed:21720365,pubmed:21796119,pubmed:23292937,pubmed:24667986,cosmic_study:331,cosmic_study:366,cosmic_study:482,pubmed:7737911,pubmed:8957064,pubmed:9041832,pubmed:9354678 17p13.1 17 7674263A> T null Y N 75 75 missense 0.996 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000426723 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000444569 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000421924 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000433051 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000421263 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000430207 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000444596 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001025931 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000437540 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000440245 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000423467 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000430039 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000443862 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000431511 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780073 cosmic curated [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11595686,pubmed:1923532,pubmed:21798897,pubmed:24667986,cosmic_study:343,cosmic_study:418,pubmed:7923098 17p13.1 17 7674262T> G null Y S 75 75 missense 0.987 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000427293 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs794727846 17p13.1 17 7674254_7674259TGTAGT[1 ] null N null 76 77 inframe deletion 0 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs144340710 cosmic curated [Cosmic]: skin, [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation pubmed:15057748,pubmed:7923098 17p13.1 17 7674259T> A null N I 76 76 missense 0.97 probably damaging 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs144340710 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Rhabdomyosarcoma (disease), [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: thymus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10519384,pubmed:11523567,pubmed:12744472,pubmed:16183105,pubmed:16941491,pubmed:17259658,pubmed:23292937,cosmic_study:482,pubmed:7572785,pubmed:7628866,pubmed:8156519,pubmed:8261448,pubmed:9470817,pubmed:9614374,pubmed:9649138,pubmed:9761125 17p13.1 17 7674259T> C null N S 76 76 missense 0.104 benign 0.15 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000115733 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs144340710 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Rhabdomyosarcoma (disease), [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: thymus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10519384,pubmed:11523567,pubmed:12744472,pubmed:16183105,pubmed:16941491,pubmed:17259658,pubmed:23292937,cosmic_study:482,pubmed:7572785,pubmed:7628866,pubmed:8156519,pubmed:8261448,pubmed:9470817,pubmed:9614374,pubmed:9649138,pubmed:9761125 17p13.1 17 7674259T> C null N S 76 76 missense 0.104 benign 0.15 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000991139 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs144340710 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Rhabdomyosarcoma (disease), [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: thymus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10519384,pubmed:11523567,pubmed:12744472,pubmed:16183105,pubmed:16941491,pubmed:17259658,pubmed:23292937,cosmic_study:482,pubmed:7572785,pubmed:7628866,pubmed:8156519,pubmed:8261448,pubmed:9470817,pubmed:9614374,pubmed:9649138,pubmed:9761125 17p13.1 17 7674259T> C null N S 76 76 missense 0.104 benign 0.15 tolerated 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs144340710 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Rhabdomyosarcoma (disease), [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: thymus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10519384,pubmed:11523567,pubmed:12744472,pubmed:16183105,pubmed:16941491,pubmed:17259658,pubmed:23292937,cosmic_study:482,pubmed:7572785,pubmed:7628866,pubmed:8156519,pubmed:8261448,pubmed:9470817,pubmed:9614374,pubmed:9649138,pubmed:9761125 17p13.1 17 7674259T> C null N S 76 76 missense 0.104 benign 0.15 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663295 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs144340710 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Rhabdomyosarcoma (disease), [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: thymus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10519384,pubmed:11523567,pubmed:12744472,pubmed:16183105,pubmed:16941491,pubmed:17259658,pubmed:23292937,cosmic_study:482,pubmed:7572785,pubmed:7628866,pubmed:8156519,pubmed:8261448,pubmed:9470817,pubmed:9614374,pubmed:9649138,pubmed:9761125 17p13.1 17 7674259T> C null N S 76 76 missense 0.104 benign 0.15 tolerated 1 Rhabdomyosarcoma (disease) ClinVar:RCV000148915 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs144340710 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Rhabdomyosarcoma (disease), [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: thymus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10519384,pubmed:11523567,pubmed:12744472,pubmed:16183105,pubmed:16941491,pubmed:17259658,pubmed:23292937,cosmic_study:482,pubmed:7572785,pubmed:7628866,pubmed:8156519,pubmed:8261448,pubmed:9470817,pubmed:9614374,pubmed:9649138,pubmed:9761125 17p13.1 17 7674259T> C null N S 76 76 missense 0.104 benign 0.15 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000989714 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786204145 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: endometrium, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10953333,pubmed:9635683 17p13.1 17 7674260T> A null N Y 76 76 missense 0.97 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000168131 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000419208 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000423298 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001201781 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000429935 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000420300 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000444464 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000440629 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785279 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425130 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000438183 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000428749 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882026 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [Cosmic]: biliary_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10203285,pubmed:10564951,pubmed:10582680,pubmed:10753186,pubmed:11681414,pubmed:11704866,pubmed:11801555,pubmed:11857392,pubmed:11929815,pubmed:12211048,pubmed:12648581,pubmed:12807758,pubmed:15064998,pubmed:15363320,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16024113,pubmed:16271749,pubmed:16572201,pubmed:16827139,pubmed:17417968,pubmed:17727479,pubmed:20668451,pubmed:21103049,pubmed:21147910,pubmed:21720365,pubmed:22722201,pubmed:22722839,pubmed:23103869,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:391,cosmic_study:418,cosmic_study:436,pubmed:7547235,pubmed:7674088,pubmed:8100480,pubmed:8481915,pubmed:8495424,pubmed:8630996,pubmed:8909247,pubmed:8910623,pubmed:8934544,pubmed:9218731 17p13.1 17 7674256T> C null Y C 77 77 missense 0.929 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000430980 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000438979 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000421570 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131168 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001214095 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000421075 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000429365 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000419715 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000430428 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000435853 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000418648 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000436923 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10956404,pubmed:11230707,pubmed:18772397,pubmed:21798893,cosmic_study:332,cosmic_study:349,pubmed:8407553,pubmed:9000573 17p13.1 17 7674257A> C null Y D 77 77 missense 0.969 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000440030 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [Cosmic]: pancreas, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract pubmed:10621852,pubmed:11244334,pubmed:15388813,pubmed:15541116,pubmed:15915369,pubmed:16459017,pubmed:18070208,pubmed:18772397,pubmed:20668451,cosmic_study:322,cosmic_study:332,cosmic_study:338 17p13.1 17 7674257A> G null Y H 77 77 missense 0.906 possibly damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492107 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [Cosmic]: pancreas, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract pubmed:10621852,pubmed:11244334,pubmed:15388813,pubmed:15541116,pubmed:15915369,pubmed:16459017,pubmed:18070208,pubmed:18772397,pubmed:20668451,cosmic_study:322,cosmic_study:332,cosmic_study:338 17p13.1 17 7674257A> G null Y H 77 77 missense 0.906 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000198628 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000438025 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000426248 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566931 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000463978 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000432981 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000443891 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000439518 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000422301 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000427088 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000444573 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000421176 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782289 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10427138,pubmed:10802655,pubmed:10846560,pubmed:11020858,pubmed:11353048,pubmed:12649174,pubmed:16024113,pubmed:20404136,pubmed:22210878,pubmed:23103869,pubmed:23407552,cosmic_study:328,cosmic_study:436,cosmic_study:488,pubmed:8392033,pubmed:8950983,pubmed:9349508 17p13.1 17 7674257A> T null Y N 77 77 missense 0.981 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000431852 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882026 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation pubmed:10753186,pubmed:11113864,pubmed:22877736,cosmic_study:448,pubmed:8916968 17p13.1 17 7674256T> G null Y S 77 77 missense 0.938 probably damaging 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597365138 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674252de l null M null 78 78 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000821784 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525537 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674249de l null M * 78 79 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572072 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525539 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674250_7674251CA[1 ] null M * 78 79 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574740 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: thyroid, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: testis, [Cosmic]: bone, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> A null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785508 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000433401 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000431054 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132084 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000464261 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000432346 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000422710 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000417987 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000435205 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000441079 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785336 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000420354 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000440576 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000428641 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587782664 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> T null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000441725 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,gnomAD rs587782664 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: thyroid, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: testis, [Cosmic]: bone, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10029095,pubmed:10091733,pubmed:10092071,pubmed:10188905,pubmed:10225439,pubmed:10568819,pubmed:10690522,pubmed:10706127,pubmed:11044641,pubmed:11141476,pubmed:11221842,pubmed:11241240,pubmed:11306496,pubmed:11333292,pubmed:11358811,pubmed:11376803,pubmed:11555594,pubmed:11595686,pubmed:11801555,pubmed:11923604,pubmed:11929815,pubmed:12509970,pubmed:12719725,pubmed:12792793,pubmed:1324794,pubmed:1461658,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15446583,pubmed:16024113,pubmed:16229746,pubmed:16322298,pubmed:16459017,pubmed:17350822,pubmed:17473653,pubmed:17523278,pubmed:17683074,pubmed:18948947,pubmed:1923532,pubmed:20668451,pubmed:21378543,pubmed:21512767,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22810696,pubmed:22915641,pubmed:22975805,pubmed:23026641,pubmed:23143597,pubmed:23525077,pubmed:23700467,pubmed:23907151,pubmed:24241536,pubmed:24375041,cosmic_study:322,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:349,cosmic_study:376,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:438,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:571,cosmic_study:582,cosmic_study:585,pubmed:7585578,pubmed:7707106,pubmed:7780983,pubmed:8037181,pubmed:8044781,pubmed:8119770,pubmed:8156519,pubmed:8252351,pubmed:8272291,pubmed:8312582,pubmed:8319218,pubmed:8345605,pubmed:8397797,pubmed:8402617,pubmed:8408453,pubmed:8495424,pubmed:8542583,pubmed:8569192,pubmed:8621246,pubmed:8630996,pubmed:8794405,pubmed:8821948,pubmed:8932338,pubmed:8934544,pubmed:8950983,pubmed:9043035,pubmed:9354678,pubmed:9736425,pubmed:9792155,pubmed:9846966 17p13.1 17 7674252C> G null M I 78 78 missense 0.83 possibly damaging 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs765848205 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11494027,pubmed:15161705,pubmed:15492791,pubmed:17683074,pubmed:21720365,cosmic_study:331,cosmic_study:419,pubmed:7585578,pubmed:8102535,pubmed:8398064 17p13.1 17 7674253A> T null M K 78 78 missense 0.703 possibly damaging 0.03 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000427086 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs765848205 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11494027,pubmed:15161705,pubmed:15492791,pubmed:17683074,pubmed:21720365,cosmic_study:331,cosmic_study:419,pubmed:7585578,pubmed:8102535,pubmed:8398064 17p13.1 17 7674253A> T null M K 78 78 missense 0.703 possibly damaging 0.03 deleterious 1 Carcinoma of esophagus ClinVar:RCV000442354 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs765848205 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11494027,pubmed:15161705,pubmed:15492791,pubmed:17683074,pubmed:21720365,cosmic_study:331,cosmic_study:419,pubmed:7585578,pubmed:8102535,pubmed:8398064 17p13.1 17 7674253A> T null M K 78 78 missense 0.703 possibly damaging 0.03 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000435309 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs765848205 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11494027,pubmed:15161705,pubmed:15492791,pubmed:17683074,pubmed:21720365,cosmic_study:331,cosmic_study:419,pubmed:7585578,pubmed:8102535,pubmed:8398064 17p13.1 17 7674253A> T null M K 78 78 missense 0.703 possibly damaging 0.03 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000422293 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs765848205 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11494027,pubmed:15161705,pubmed:15492791,pubmed:17683074,pubmed:21720365,cosmic_study:331,cosmic_study:419,pubmed:7585578,pubmed:8102535,pubmed:8398064 17p13.1 17 7674253A> T null M K 78 78 missense 0.703 possibly damaging 0.03 deleterious 1 Neoplasm of brain ClinVar:RCV000432913 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs765848205 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11494027,pubmed:15161705,pubmed:15492791,pubmed:17683074,pubmed:21720365,cosmic_study:331,cosmic_study:419,pubmed:7585578,pubmed:8102535,pubmed:8398064 17p13.1 17 7674253A> T null M K 78 78 missense 0.703 possibly damaging 0.03 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000436968 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs765848205 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11494027,pubmed:15161705,pubmed:15492791,pubmed:17683074,pubmed:21720365,cosmic_study:331,cosmic_study:419,pubmed:7585578,pubmed:8102535,pubmed:8398064 17p13.1 17 7674253A> T null M K 78 78 missense 0.703 possibly damaging 0.03 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000443369 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs765848205 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11494027,pubmed:15161705,pubmed:15492791,pubmed:17683074,pubmed:21720365,cosmic_study:331,cosmic_study:419,pubmed:7585578,pubmed:8102535,pubmed:8398064 17p13.1 17 7674253A> T null M K 78 78 missense 0.703 possibly damaging 0.03 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000442966 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs765848205 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11494027,pubmed:15161705,pubmed:15492791,pubmed:17683074,pubmed:21720365,cosmic_study:331,cosmic_study:419,pubmed:7585578,pubmed:8102535,pubmed:8398064 17p13.1 17 7674253A> T null M K 78 78 missense 0.703 possibly damaging 0.03 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000429783 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs765848205 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11494027,pubmed:15161705,pubmed:15492791,pubmed:17683074,pubmed:21720365,cosmic_study:331,cosmic_study:419,pubmed:7585578,pubmed:8102535,pubmed:8398064 17p13.1 17 7674253A> T null M K 78 78 missense 0.703 possibly damaging 0.03 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000424589 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs765848205 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11494027,pubmed:15161705,pubmed:15492791,pubmed:17683074,pubmed:21720365,cosmic_study:331,cosmic_study:419,pubmed:7585578,pubmed:8102535,pubmed:8398064 17p13.1 17 7674253A> T null M K 78 78 missense 0.703 possibly damaging 0.03 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000420529 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs765848205 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation pubmed:11011123,pubmed:9262496,pubmed:9646028 17p13.1 17 7674253A> C null M R 78 78 missense 0.124 benign 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs765848205 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: lung pubmed:12001123,pubmed:15702478,cosmic_study:375,cosmic_study:376 17p13.1 17 7674253A> G null M T 78 78 missense 0.347 benign 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568529 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs765848205 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: lung pubmed:12001123,pubmed:15702478,cosmic_study:375,cosmic_study:376 17p13.1 17 7674253A> G null M T 78 78 missense 0.347 benign 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000699909 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000430423 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000422107 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000200500 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000429307 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000421733 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000443569 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000419726 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000439317 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000431774 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000434187 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000439996 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs730882004 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10918210,pubmed:11029509,pubmed:14719105,pubmed:15138567,pubmed:23526092,cosmic_study:323,pubmed:7767983,pubmed:9218731 17p13.1 17 7674254T> C null M V 78 78 missense 0.696 possibly damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000443583 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs193920789 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [Cosmic]: urinary_tract, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Malignant tumor of prostate, [UniProt]: sporadic cancers; somatic mutation pubmed:11391594,pubmed:14962108,pubmed:23265383,cosmic_study:450 17p13.1 17 7674249A> C null C W 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000203823 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs193920789 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [Cosmic]: urinary_tract, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Malignant tumor of prostate, [UniProt]: sporadic cancers; somatic mutation pubmed:11391594,pubmed:14962108,pubmed:23265383,cosmic_study:450 17p13.1 17 7674249A> C null C W 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Malignant tumor of prostate MIM:176807 pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000149049 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567549353 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674229_7674255de l null C null 79 87 inframe deletion 1 Ovarian Neoplasms ClinVar:RCV000785259 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597365075 [ClinVar]: Squamous cell carcinoma of the head and neck 17p13.1 17 7674250du p null C null 79 79 frameshift 0 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000989713 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000428817 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000440369 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000435343 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000442469 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000433862 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000473420 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000425072 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000418555 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000422719 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000427235 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000417498 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000439349 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000433989 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000422481 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000427531 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000432745 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: meninges, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10567903,pubmed:11375957,pubmed:11388392,pubmed:12093899,pubmed:12649174,pubmed:12719725,pubmed:1324794,pubmed:14672397,pubmed:14716513,pubmed:16024113,pubmed:1682043,pubmed:18948947,pubmed:20668451,pubmed:21103049,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:22561517,pubmed:22895193,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:343,cosmic_study:396,cosmic_study:413,cosmic_study:414,cosmic_study:419,cosmic_study:452,cosmic_study:583,pubmed:7743473,pubmed:7767983,pubmed:7997263,pubmed:8102535,pubmed:8156519,pubmed:8198970,pubmed:8397797,pubmed:8794405,pubmed:8912818,pubmed:9703286,pubmed:9761125,pubmed:9846966 17p13.1 17 7674250C> A null C F 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000435149 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000439946 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000422044 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000430919 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000438876 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000444792 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000417486 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000435170 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000433478 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000443356 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000437476 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000427246 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785550 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000428804 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000428630 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000437321 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000420677 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:21822264,cosmic_study:331,cosmic_study:352,cosmic_study:585,pubmed:8934544 17p13.1 17 7674251A> C null C G 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000422283 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000426193 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000438447 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000421933 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000419348 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000428210 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492666 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000812726 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000441834 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000437018 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000421679 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000431946 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000441879 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000437199 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000430482 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000424052 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000433046 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000430655 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:10519384,pubmed:11275993,pubmed:11336244,pubmed:11375957,pubmed:11590071,pubmed:15541116,pubmed:15644779,pubmed:15802015,pubmed:16183105,pubmed:16322298,pubmed:17350822,pubmed:24797764,cosmic_study:376,cosmic_study:582,pubmed:9568784,pubmed:9635683 17p13.1 17 7674251A> G null C R 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000420409 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519981 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: bone, [Cosmic]: soft_tissue, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: ovary, [Cosmic]: lung pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674251A> T null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565464 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000424531 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000434584 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000425465 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000424302 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000435732 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001067780 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000442617 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000423226 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000442527 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000418923 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000434344 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000432222 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000439773 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000441115 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000419485 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000429749 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10408409,pubmed:10743047,pubmed:12001123,pubmed:1317462,pubmed:14745729,pubmed:15533223,pubmed:15644779,pubmed:15656799,pubmed:1630814,pubmed:17692090,pubmed:22158988,pubmed:23415222,cosmic_study:393,cosmic_study:465,pubmed:8030271,pubmed:8286219,pubmed:9099970,pubmed:9210874,pubmed:9445137,pubmed:9587933 17p13.1 17 7674250C> G null C S 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000440842 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000427976 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000417749 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000429110 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000433120 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000418002 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000161034 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000167907 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000420202 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000431283 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000439129 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000426733 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000426546 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000437851 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785261 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000442204 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000438032 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000444562 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000436794 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs730882005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10706127,pubmed:10753204,pubmed:11007040,pubmed:11079169,pubmed:11297255,pubmed:11384100,pubmed:11406645,pubmed:11588905,pubmed:11929815,pubmed:12269992,pubmed:12792793,pubmed:12807758,pubmed:15099937,pubmed:15138567,pubmed:15257941,pubmed:15492791,pubmed:15523690,pubmed:16177957,pubmed:16322298,pubmed:1647768,pubmed:16538442,pubmed:16818855,pubmed:17064992,pubmed:17456604,pubmed:17949449,pubmed:18772397,pubmed:18772890,pubmed:2040694,pubmed:21512767,pubmed:21720365,pubmed:22607702,pubmed:22609129,pubmed:22915641,pubmed:22923510,pubmed:23091298,pubmed:23525077,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:464,cosmic_study:473,cosmic_study:552,pubmed:7585578,pubmed:7606196,pubmed:8217795,pubmed:8311114,pubmed:8312582,pubmed:8916968,pubmed:9258660,pubmed:9815649,pubmed:9816225 17p13.1 17 7674250C> T null C Y 79 79 missense 1.0 probably damaging 0.0 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000442285 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1060501197 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674248de l null N null 80 80 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000460136 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567549651 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674249du p null N * 80 80 stop gained 1 Ovarian Neoplasms ClinVar:RCV000785512 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs876659260 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674228_7674248de l null N null 80 86 inframe deletion 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222616 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525518 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674240_7674249de l null N null 80 80 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000545435 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Adenocarcinoma of prostate ClinVar:RCV000423612 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Adenocarcinoma of stomach ClinVar:RCV000428477 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000441535 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223044 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000560536 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000421256 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Malignant neoplasm of body of uterus ClinVar:RCV000424282 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000439114 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000434302 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000442741 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000433419 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000432300 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660807 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10653866,pubmed:10674608,pubmed:10738270,pubmed:10846560,pubmed:10850436,pubmed:11301359,pubmed:12807758,pubmed:12890146,pubmed:1333465,pubmed:15161705,pubmed:15499621,pubmed:15564288,pubmed:15778432,pubmed:16183105,pubmed:17285122,pubmed:17388661,pubmed:20668451,pubmed:21288114,pubmed:22844452,pubmed:23091298,pubmed:23780408,cosmic_study:322,cosmic_study:338,cosmic_study:376,cosmic_study:419,cosmic_study:435,cosmic_study:512,pubmed:7620944,pubmed:7909871,pubmed:8044781,pubmed:8119770,pubmed:8317886,pubmed:8934544,pubmed:9354678 17p13.1 17 7674248T> C null N D 80 80 missense 0.759 possibly damaging 0.07 tolerated 1 Uterine Carcinosarcoma ClinVar:RCV000426851 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057522275 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation pubmed:10743047,pubmed:12509970,pubmed:17031656,pubmed:22470196,pubmed:8407553,pubmed:9376195 17p13.1 17 7674246G> C null N K 80 80 missense 0.839 possibly damaging 0.04 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492173 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057522275 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation pubmed:10743047,pubmed:12509970,pubmed:17031656,pubmed:22470196,pubmed:8407553,pubmed:9376195 17p13.1 17 7674246G> C null N K 80 80 missense 0.839 possibly damaging 0.04 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000529909 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Adenocarcinoma of prostate ClinVar:RCV000442626 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Adenocarcinoma of stomach ClinVar:RCV000438332 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000438482 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567507 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000427640 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Malignant neoplasm of body of uterus ClinVar:RCV000426368 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000428926 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000418854 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000436108 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000420011 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000429581 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10671690,pubmed:10753186,pubmed:11391594,pubmed:11494027,pubmed:11837710,pubmed:15057748,pubmed:15499621,pubmed:15564288,pubmed:16818615,pubmed:1736012,pubmed:2040694,pubmed:21720365,pubmed:24292195,cosmic_study:331,cosmic_study:376,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:563,pubmed:7707106,pubmed:8044781,pubmed:8387391,pubmed:8916968 17p13.1 17 7674247T> C null N S 80 80 missense 0.082 benign 0.09 tolerated 1 Uterine Carcinosarcoma ClinVar:RCV000437044 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597364867 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674242_7674247de l null N T 80 82 - 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000798281 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000430564 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000435297 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000442232 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633336 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000418162 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000441278 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000431205 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000417510 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000436479 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000420547 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000424579 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519999 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:17531558,pubmed:23243274,pubmed:24127483,cosmic_study:523,pubmed:8102535,pubmed:9846966 17p13.1 17 7674247T> G null N T 80 80 missense 0.674 possibly damaging 0.05 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000425771 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597364916 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674246_7674248de l null N null 80 80 inframe deletion 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026101 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs764342812 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:10764158,pubmed:11223675,pubmed:17982662,cosmic_study:376,pubmed:8219205,pubmed:8909247,pubmed:9354678,pubmed:9796697 17p13.1 17 7674243A> C null S R 81 81 missense 0.996 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000544531 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs397516437 17p13.1 17 7674225_7674248de l null S null 81 88 inframe deletion 0 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1131691541 17p13.1 17 7674246_7674247ins A null S null 81 81 frameshift 0 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567549584 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: soft_tissue, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung pubmed:10697269,pubmed:11044641,pubmed:11051241,pubmed:12181274,pubmed:14719105,pubmed:15057748,pubmed:1945416,pubmed:21533174,cosmic_study:419,pubmed:7549812,pubmed:9185695 17p13.1 17 7674245T> C null S G 81 81 missense 0.687 possibly damaging 0.12 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000709404 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567549584 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: soft_tissue, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung pubmed:10697269,pubmed:11044641,pubmed:11051241,pubmed:12181274,pubmed:14719105,pubmed:15057748,pubmed:1945416,pubmed:21533174,cosmic_study:419,pubmed:7549812,pubmed:9185695 17p13.1 17 7674245T> C null S G 81 81 missense 0.687 possibly damaging 0.12 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000989712 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567549584 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674245T> G null S R 81 81 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026129 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000418366 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000423557 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000434790 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001045859 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000441931 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000424609 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000429686 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000422775 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000432077 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000419457 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000425684 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000435947 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000440449 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000441961 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000434877 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000437125 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10706127,pubmed:14745729,pubmed:16322298,pubmed:17473653,pubmed:22844452,pubmed:24127483,cosmic_study:331,cosmic_study:523,pubmed:9367066,pubmed:9635683 17p13.1 17 7674242A> C null S A 82 82 missense 0.99 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000420564 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000437089 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000422573 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000417965 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492778 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000154419 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000425780 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000442642 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000431373 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000420364 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000439590 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000429339 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000438488 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785321 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000419417 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000439098 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000426900 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000426195 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000442616 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10951339,pubmed:11079169,pubmed:11301359,pubmed:11389059,pubmed:12144684,pubmed:15064998,pubmed:15564288,pubmed:15837541,pubmed:15915369,pubmed:16174251,pubmed:2024123,pubmed:20404136,pubmed:21552959,pubmed:23168708,pubmed:23349305,cosmic_study:414,cosmic_study:416,cosmic_study:419,pubmed:8731915,pubmed:8934544,pubmed:9792155 17p13.1 17 7674241G> C null S C 82 82 missense 0.999 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000438178 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000422867 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000441622 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000434173 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Hepatoblastoma ClinVar:RCV000013153 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130168 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000559355 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Lip and oral cavity carcinoma ClinVar:RCV001255673 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000428255 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000429321 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000435867 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000433125 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000423921 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000436959 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000418653 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Osteosarcoma MIM:259500 ClinVar:RCV000013154 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785290 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000441398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000438965 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000430665 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000444801 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000426268 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Hepatoblastoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Osteosarcoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1699228 pubmed:10084308,pubmed:10091733,pubmed:10697269,pubmed:10896202,pubmed:10948316,pubmed:11051241,pubmed:11078762,pubmed:11079169,pubmed:11159175,pubmed:11244334,pubmed:11282486,pubmed:11389059,pubmed:11555594,pubmed:11704835,pubmed:11801555,pubmed:14688025,pubmed:15221786,pubmed:15305417,pubmed:1565143,pubmed:15802015,pubmed:15915369,pubmed:16959974,pubmed:17388661,pubmed:17523278,pubmed:18772397,pubmed:21252315,pubmed:21512767,pubmed:21533174,pubmed:21720365,pubmed:22495314,pubmed:22817889,pubmed:22877736,pubmed:22923510,pubmed:23525077,pubmed:23851445,pubmed:23856246,pubmed:24121792,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:333,cosmic_study:384,cosmic_study:417,cosmic_study:419,cosmic_study:434,cosmic_study:444,cosmic_study:448,cosmic_study:464,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:7651727,pubmed:7715016,pubmed:7767983,pubmed:7917542,pubmed:7946294,pubmed:7981076,pubmed:7997263,pubmed:8028358,pubmed:8033152,pubmed:8241511,pubmed:8317886,pubmed:8401536,pubmed:8631591,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9264274,pubmed:9622088,pubmed:9635683,pubmed:9649138 17p13.1 17 7674241G> A null S F 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000426907 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Carcinoma of esophagus ClinVar:RCV000430183 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000437871 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Glioblastoma ClinVar:RCV000433946 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001057485 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000421946 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000436563 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000442103 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Neoplasm of brain ClinVar:RCV000425213 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000435497 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000443312 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000417799 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785263 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000427437 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000439326 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000423390 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000418899 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000442139 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057520002 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Papillary renal cell carcinoma, sporadic, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [ClinVar]: Carcinoma of gallbladder, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15499621,cosmic_study:419,cosmic_study:440,pubmed:8912828,pubmed:9354678 17p13.1 17 7674242A> G null S P 82 82 missense 0.999 probably damaging 0.03 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000433139 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000418625 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of gallbladder ClinVar:RCV000441261 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000419713 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001053974 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000430987 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000425344 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000421131 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000430014 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000436296 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000438864 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000431755 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785454 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000432092 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000426095 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Papillary renal cell carcinoma, sporadic ClinVar:RCV000437363 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000441902 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000423572 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs28934573 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Papillary renal cell carcinoma, sporadic, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Carcinoma of gallbladder, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: urinary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10492244,pubmed:10706127,cosmic_study:11,cosmic_study:13,pubmed:17285122,pubmed:21720365,pubmed:21901162,pubmed:22895193,pubmed:24292195,cosmic_study:331,cosmic_study:34,cosmic_study:41,cosmic_study:452,cosmic_study:563,cosmic_study:588,pubmed:7728762,pubmed:8824725 17p13.1 17 7674241G> T null S Y 82 82 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000420813 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000438269 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000435022 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000433671 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000424746 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000427153 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000688366 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000442305 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000417879 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785473 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000442449 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000425032 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:16959974 pubmed:10091733,pubmed:10348818,pubmed:10567903,pubmed:10735894,pubmed:10962443,pubmed:11004672,pubmed:11051249,pubmed:11152345,pubmed:11185887,pubmed:11306496,pubmed:11329143,pubmed:11375957,pubmed:11494027,pubmed:11595686,pubmed:11764090,pubmed:11857392,pubmed:12648581,pubmed:12649174,pubmed:12807758,pubmed:15073856,pubmed:15161705,pubmed:15221786,pubmed:15246568,pubmed:15388813,pubmed:15915369,pubmed:16024113,pubmed:16078640,pubmed:16157203,pubmed:16174251,pubmed:16528528,pubmed:1656362,pubmed:16570275,pubmed:16959974,pubmed:17573896,pubmed:17982662,pubmed:1873817,pubmed:21512767,pubmed:21798893,pubmed:22561517,pubmed:22607702,pubmed:22975805,pubmed:23415222,cosmic_study:349,cosmic_study:382,cosmic_study:396,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:465,pubmed:7585578,pubmed:7614480,pubmed:7730141,pubmed:7767983,pubmed:8119770,pubmed:9030251,pubmed:9218731,pubmed:9231161,pubmed:9460999,pubmed:9614374,pubmed:9662254 17p13.1 17 7674238C> A null C F 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000418512 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:23851445,cosmic_study:323,cosmic_study:414,pubmed:7737911,pubmed:7928628 17p13.1 17 7674239A> C null C G 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000427357 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:23851445,cosmic_study:323,cosmic_study:414,pubmed:7737911,pubmed:7928628 17p13.1 17 7674239A> C null C G 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000420803 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:23851445,cosmic_study:323,cosmic_study:414,pubmed:7737911,pubmed:7928628 17p13.1 17 7674239A> C null C G 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000428013 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:23851445,cosmic_study:323,cosmic_study:414,pubmed:7737911,pubmed:7928628 17p13.1 17 7674239A> C null C G 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000426704 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:23851445,cosmic_study:323,cosmic_study:414,pubmed:7737911,pubmed:7928628 17p13.1 17 7674239A> C null C G 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000437385 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:23851445,cosmic_study:323,cosmic_study:414,pubmed:7737911,pubmed:7928628 17p13.1 17 7674239A> C null C G 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000461418 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:23851445,cosmic_study:323,cosmic_study:414,pubmed:7737911,pubmed:7928628 17p13.1 17 7674239A> C null C G 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000444807 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:23851445,cosmic_study:323,cosmic_study:414,pubmed:7737911,pubmed:7928628 17p13.1 17 7674239A> C null C G 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000435223 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:23851445,cosmic_study:323,cosmic_study:414,pubmed:7737911,pubmed:7928628 17p13.1 17 7674239A> C null C G 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000442190 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:23851445,cosmic_study:323,cosmic_study:414,pubmed:7737911,pubmed:7928628 17p13.1 17 7674239A> C null C G 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000428578 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:23851445,cosmic_study:323,cosmic_study:414,pubmed:7737911,pubmed:7928628 17p13.1 17 7674239A> C null C G 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000417900 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary pubmed:10743047,pubmed:11079169,pubmed:11733360,pubmed:15541116,pubmed:15802015,pubmed:17456604,pubmed:1923532,pubmed:20668451,pubmed:22844452,cosmic_study:338,cosmic_study:376,pubmed:8187092 17p13.1 17 7674239A> G null C R 83 83 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674238C> G null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000801823 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000439881 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Carcinoma of esophagus ClinVar:RCV000434352 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000419559 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Glioblastoma ClinVar:RCV000441578 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000431566 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026200 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662594 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000430244 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000424356 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000429187 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000423712 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519982 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract pubmed:10582680,pubmed:10811497,pubmed:11389059,pubmed:11595686,pubmed:12001123,pubmed:12209590,pubmed:12375013,pubmed:12635658,pubmed:14719105,pubmed:17285122,pubmed:21901162,pubmed:22980975,cosmic_study:323,cosmic_study:382,cosmic_study:431,pubmed:7723391,pubmed:8093350,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8272291,pubmed:8548759,pubmed:9120715,pubmed:9231161,pubmed:9247629,pubmed:9635683,pubmed:9788444 17p13.1 17 7674239A> T null C S 83 83 missense 0.999 probably damaging 0.03 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000440943 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597364759 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674238_7674240du p null C null 83 83 insertion 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000812574 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP rs375874539 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix pubmed:10738270,pubmed:11023067,pubmed:11837710,pubmed:15221786,pubmed:23033341,pubmed:23525077,cosmic_study:456,cosmic_study:464,pubmed:8682586,pubmed:9815649 17p13.1 17 7674237G> C null C W 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000438862 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP rs375874539 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix pubmed:10738270,pubmed:11023067,pubmed:11837710,pubmed:15221786,pubmed:23033341,pubmed:23525077,cosmic_study:456,cosmic_study:464,pubmed:8682586,pubmed:9815649 17p13.1 17 7674237G> C null C W 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000432990 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP rs375874539 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix pubmed:10738270,pubmed:11023067,pubmed:11837710,pubmed:15221786,pubmed:23033341,pubmed:23525077,cosmic_study:456,cosmic_study:464,pubmed:8682586,pubmed:9815649 17p13.1 17 7674237G> C null C W 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000431682 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP rs375874539 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix pubmed:10738270,pubmed:11023067,pubmed:11837710,pubmed:15221786,pubmed:23033341,pubmed:23525077,cosmic_study:456,cosmic_study:464,pubmed:8682586,pubmed:9815649 17p13.1 17 7674237G> C null C W 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000422298 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP rs375874539 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix pubmed:10738270,pubmed:11023067,pubmed:11837710,pubmed:15221786,pubmed:23033341,pubmed:23525077,cosmic_study:456,cosmic_study:464,pubmed:8682586,pubmed:9815649 17p13.1 17 7674237G> C null C W 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000420917 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP rs375874539 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix pubmed:10738270,pubmed:11023067,pubmed:11837710,pubmed:15221786,pubmed:23033341,pubmed:23525077,cosmic_study:456,cosmic_study:464,pubmed:8682586,pubmed:9815649 17p13.1 17 7674237G> C null C W 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000421654 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP rs375874539 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix pubmed:10738270,pubmed:11023067,pubmed:11837710,pubmed:15221786,pubmed:23033341,pubmed:23525077,cosmic_study:456,cosmic_study:464,pubmed:8682586,pubmed:9815649 17p13.1 17 7674237G> C null C W 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000442778 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP rs375874539 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix pubmed:10738270,pubmed:11023067,pubmed:11837710,pubmed:15221786,pubmed:23033341,pubmed:23525077,cosmic_study:456,cosmic_study:464,pubmed:8682586,pubmed:9815649 17p13.1 17 7674237G> C null C W 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000420256 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP rs375874539 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix pubmed:10738270,pubmed:11023067,pubmed:11837710,pubmed:15221786,pubmed:23033341,pubmed:23525077,cosmic_study:456,cosmic_study:464,pubmed:8682586,pubmed:9815649 17p13.1 17 7674237G> C null C W 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000430938 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP rs375874539 cosmic curated [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix pubmed:10738270,pubmed:11023067,pubmed:11837710,pubmed:15221786,pubmed:23033341,pubmed:23525077,cosmic_study:456,cosmic_study:464,pubmed:8682586,pubmed:9815649 17p13.1 17 7674237G> C null C W 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000432344 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000419614 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000440992 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000426292 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000442015 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000436867 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129809 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000231770 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni-like syndrome (LFL) ClinVar:RCV000013148 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000425602 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000436295 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785282 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000432119 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000419041 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121912655 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Li-Fraumeni-like syndrome, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:10408409,pubmed:10567903,pubmed:10582680,pubmed:10914716,pubmed:11011123,pubmed:11079169,pubmed:11306511,pubmed:11358811,pubmed:11375957,pubmed:11389059,pubmed:11595686,pubmed:12181274,pubmed:12217802,pubmed:12404284,pubmed:12759240,pubmed:14506148,pubmed:14697642,pubmed:15073856,pubmed:15642401,pubmed:15644779,pubmed:15956964,pubmed:16177957,pubmed:1679237,pubmed:17417968,pubmed:1766671,pubmed:17962810,pubmed:21103049,pubmed:21533174,pubmed:22163003,pubmed:22561517,pubmed:22941189,cosmic_study:329,cosmic_study:396,cosmic_study:424,pubmed:7620944,pubmed:7767998,pubmed:8102535,pubmed:8317886,pubmed:8625484,pubmed:8718514,pubmed:9635831,pubmed:9807634,pubmed:9816045 17p13.1 17 7674238C> T null C Y 83 83 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000430302 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs786203117 cosmic curated [Cosmic]: breast, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10506718,pubmed:10748875,pubmed:11051241,pubmed:12795343,pubmed:16174251,pubmed:17557246,pubmed:18070208,pubmed:8252351 17p13.1 17 7674236T> G null M L 84 84 missense 0.089 benign 0.08 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166281 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed rs786203117 cosmic curated [Cosmic]: breast, [Cosmic]: stomach, [Cosmic]: endometrium, [Cosmic]: skin, [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [Cosmic]: ovary, [Cosmic]: lung pubmed:10506718,pubmed:10748875,pubmed:11051241,pubmed:12795343,pubmed:16174251,pubmed:17557246,pubmed:18070208,pubmed:8252351 17p13.1 17 7674236T> A null M L 84 84 missense 0.089 benign 0.08 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [UniProt]: sporadic cancers; somatic mutation pubmed:10901165,pubmed:11232646,pubmed:15098008,pubmed:8916968 17p13.1 17 7674235A> G null M T 84 84 missense 0.054 benign 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222280 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [UniProt]: sporadic cancers; somatic mutation pubmed:10901165,pubmed:11232646,pubmed:15098008,pubmed:8916968 17p13.1 17 7674235A> G null M T 84 84 missense 0.054 benign 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000686581 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs786203117 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:11595686,pubmed:17727479,pubmed:8541549 17p13.1 17 7674236T> C null M V 84 84 missense 0.127 benign 0.69 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562254 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs786203117 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:11595686,pubmed:17727479,pubmed:8541549 17p13.1 17 7674236T> C null M V 84 84 missense 0.127 benign 0.69 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000464185 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: salivary_gland, [Cosmic]: lung pubmed:11251174,pubmed:1375111,pubmed:14675778,pubmed:15541116,pubmed:17704262,pubmed:9262496 17p13.1 17 7674232C> G null G A 85 85 missense 0.974 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000548437 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: salivary_gland, [Cosmic]: lung pubmed:11251174,pubmed:1375111,pubmed:14675778,pubmed:15541116,pubmed:17704262,pubmed:9262496 17p13.1 17 7674232C> G null G A 85 85 missense 0.974 probably damaging 0.0 deleterious 1 Lip and oral cavity carcinoma ClinVar:RCV001255675 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000443459 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000437360 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000418385 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000422508 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000538079 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000439724 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000429067 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000427774 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000419449 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000438569 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000427875 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000437805 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000430162 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10408409,pubmed:10743047,pubmed:11044641,pubmed:1312896,pubmed:14654050,pubmed:15064998,pubmed:15305417,pubmed:15702478,pubmed:15922892,pubmed:16024113,pubmed:16061860,pubmed:1855226,pubmed:21720365,pubmed:21798897,pubmed:22895193,pubmed:22931248,pubmed:22941188,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:452,pubmed:7691145,pubmed:7834636,pubmed:7896446,pubmed:8957064,pubmed:9036877,pubmed:9367066,pubmed:9530523,pubmed:9761125,pubmed:9846966 17p13.1 17 7674233C> A null G C 85 85 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000436692 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000439239 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Carcinoma of esophagus ClinVar:RCV000428997 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Glioblastoma ClinVar:RCV000421269 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000440742 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561866 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000477083 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000429659 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000444224 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Neoplasm of brain ClinVar:RCV000444195 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000419371 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785537 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000427142 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000422456 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000432739 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000423079 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10607740,pubmed:10780666,pubmed:11044641,pubmed:11375957,pubmed:11390535,pubmed:11588905,pubmed:11857392,pubmed:11929815,pubmed:15254976,pubmed:15702478,pubmed:16024113,pubmed:16322298,pubmed:16461462,pubmed:17259658,pubmed:18772890,pubmed:21720365,pubmed:22178590,pubmed:22493262,pubmed:22561517,pubmed:22810696,pubmed:23243274,pubmed:23525077,cosmic_study:323,cosmic_study:329,cosmic_study:331,cosmic_study:376,cosmic_study:396,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7728762,pubmed:7872723,pubmed:8001261,pubmed:8119770,pubmed:8272291,pubmed:8390407,pubmed:8407553,pubmed:8481915,pubmed:8916968,pubmed:9264274,pubmed:9815649 17p13.1 17 7674232C> T null G D 85 85 missense 0.996 probably damaging 0.03 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000431939 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000419267 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000430145 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000418001 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000437599 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000425133 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000432729 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000420351 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000424520 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425485 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000443153 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000431028 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000438254 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10706127,pubmed:22923510,cosmic_study:434,pubmed:8916968 17p13.1 17 7674233C> G null G R 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000435229 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597364514 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674230_7674238de l null G null 85 87 inframe deletion 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000806594 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525486 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674220_7674234de l null G null 85 89 inframe deletion 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492700 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000442909 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Carcinoma of esophagus ClinVar:RCV000432031 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Glioblastoma ClinVar:RCV000436060 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000433704 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492366 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633372 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000418805 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000434459 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Neoplasm of brain ClinVar:RCV000426513 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000443654 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000421362 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000425382 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000441006 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000423748 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519989 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10091733,pubmed:10225439,pubmed:10567903,pubmed:10690522,pubmed:10697269,pubmed:10709097,pubmed:10753186,pubmed:10754498,pubmed:10962865,pubmed:11353048,pubmed:11595686,pubmed:11801555,pubmed:11895856,pubmed:12807758,pubmed:14716513,pubmed:14726385,pubmed:16061860,pubmed:1655254,pubmed:16818615,pubmed:17456604,pubmed:17704924,pubmed:1793482,pubmed:17949449,pubmed:18772397,pubmed:24072100,cosmic_study:329,cosmic_study:332,cosmic_study:376,cosmic_study:419,cosmic_study:516,pubmed:7606196,pubmed:8151121,pubmed:8392033,pubmed:8821948,pubmed:9231161,pubmed:9738975 17p13.1 17 7674233C> T null G S 85 85 missense 0.93 probably damaging 0.03 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000426057 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000433321 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000443964 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000424338 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000420188 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000440310 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000433805 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000417831 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000430897 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785338 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000439173 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000434977 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000428522 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000423073 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs985033810 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of brain, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10567903,pubmed:10850436,pubmed:11044641,pubmed:11406538,pubmed:12796400,pubmed:14654050,pubmed:15064998,pubmed:15802015,pubmed:23525077,cosmic_study:464,pubmed:7654857,pubmed:8995554,pubmed:9120719,pubmed:9921983 17p13.1 17 7674232C> A null G V 85 85 missense 0.998 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000441607 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000438479 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000437884 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000432804 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000426521 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000420237 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000433958 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000421477 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000425368 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000443845 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000431752 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000422531 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000442824 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000436773 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912656 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:11004672,pubmed:14712292,pubmed:15541116,pubmed:18772890,pubmed:2024123,cosmic_study:328,cosmic_study:473,pubmed:7549812,pubmed:8761369 17p13.1 17 7674229C> G null G A 86 86 missense 0.99 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000443789 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000430002 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000424262 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000440197 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000425471 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000441334 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492412 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013142 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000418673 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000440886 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000419737 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000443435 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000423577 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000428895 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000436186 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000436330 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1394225,pubmed:1978757 pubmed:10091733,pubmed:10582680,pubmed:10697269,pubmed:10735894,pubmed:10830574,pubmed:10951339,pubmed:11044641,pubmed:11531258,pubmed:12181274,pubmed:12649174,pubmed:1310070,pubmed:14767509,pubmed:15073856,pubmed:15098008,pubmed:15161705,pubmed:16024113,pubmed:1631137,pubmed:17456604,pubmed:17573896,pubmed:18948947,pubmed:1946433,pubmed:20668451,pubmed:21409490,pubmed:21559688,pubmed:21720365,pubmed:22975805,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:453,cosmic_study:464,cosmic_study:582,pubmed:7549812,pubmed:7829392,pubmed:8119770,pubmed:8311114,pubmed:8393166,pubmed:8398064,pubmed:8934544,pubmed:9052405,pubmed:9459157,pubmed:9655287,pubmed:9662254,pubmed:9792155 17p13.1 17 7674230C> A null G C 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000417593 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000422520 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000444212 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000443515 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000427250 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000439739 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164465 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000206683 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013149 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000436871 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000426192 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000421831 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000431450 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785472 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000419718 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000421349 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000429017 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000444304 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2259385 pubmed:10213514,pubmed:10393358,pubmed:10693987,pubmed:10699891,pubmed:10753186,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11317955,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11948487,pubmed:12093899,pubmed:12172044,pubmed:12176791,pubmed:12509970,pubmed:12673679,pubmed:12759240,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12824925,pubmed:1324794,pubmed:14583777,pubmed:14641293,pubmed:14688025,pubmed:14719105,pubmed:15017592,pubmed:15221786,pubmed:15492791,pubmed:15523690,pubmed:15541116,pubmed:15613867,pubmed:15802015,pubmed:16024113,pubmed:16322298,pubmed:1638540,pubmed:16416221,pubmed:16818855,pubmed:16847456,pubmed:17259658,pubmed:1730092,pubmed:17523278,pubmed:17573896,pubmed:17849424,pubmed:18772396,pubmed:18772397,pubmed:2052583,pubmed:20668451,pubmed:21103049,pubmed:21533174,pubmed:21720365,pubmed:21796119,pubmed:21901162,pubmed:22037554,pubmed:2259385,pubmed:22609129,pubmed:22610119,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23292937,pubmed:23525077,pubmed:24140581,pubmed:24145436,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:392,cosmic_study:414,cosmic_study:431,cosmic_study:452,cosmic_study:457,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:585,pubmed:7542226,pubmed:7615358,pubmed:7768632,pubmed:7833278,pubmed:7860623,pubmed:7882357,pubmed:7997263,pubmed:8033106,pubmed:8044781,pubmed:8317895,pubmed:8542583,pubmed:8569192,pubmed:8630996,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8934544,pubmed:8995554,pubmed:9052405,pubmed:9162193,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9460999 17p13.1 17 7674229C> T null G D 86 86 missense 0.998 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000437916 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000419444 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000424643 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000425790 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000444128 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000439119 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026295 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633351 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000441708 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000436041 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000426804 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000429713 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000437043 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000431462 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000432081 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000418277 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS pubmed:10948316,pubmed:11044641,pubmed:11306511,pubmed:12010886,pubmed:15499621,pubmed:16061860,pubmed:21720365,pubmed:23852799,pubmed:24423316,cosmic_study:323,cosmic_study:331,pubmed:9284834 17p13.1 17 7674230C> G null G R 86 86 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000430767 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Adenocarcinoma ClinVar:RCV000148909 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000417419 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000432120 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Astrocytoma, anaplastic ClinVar:RCV000588736 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Atypical teratoid/rhabdoid tumor (AT/RT) ClinVar:RCV000587017 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Carcinoma of esophagus ClinVar:RCV000428113 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Glioblastoma ClinVar:RCV000420452 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000438801 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130147 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000226657 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144669 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Li-Fraumeni-like syndrome (LFL) ClinVar:RCV000013162 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000421457 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Neoplasm pubmed:22918138,pubmed:23619274,ClinVar:RCV000425581 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Neoplasm of brain ClinVar:RCV000430925 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000436979 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000442529 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785316 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000442506 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000437643 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000419767 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000426990 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934575 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Neoplasm, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Atypical teratoid/rhabdoid tumor, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Adenocarcinoma pubmed:8829627 pubmed:10071127,pubmed:10213514,pubmed:10328221,pubmed:10348818,pubmed:10393358,pubmed:10408409,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10656431,pubmed:10690522,pubmed:10693987,pubmed:10697269,pubmed:10706127,pubmed:10748875,pubmed:10780666,pubmed:10878546,pubmed:10914716,pubmed:10999735,cosmic_study:11,pubmed:11020858,pubmed:11040944,pubmed:11044641,pubmed:11051249,pubmed:11141476,pubmed:11161397,pubmed:11230707,pubmed:11231481,pubmed:11241240,pubmed:11275993,pubmed:11329143,pubmed:11353048,pubmed:11388392,pubmed:11390535,pubmed:11433398,pubmed:11494027,pubmed:11531258,pubmed:11588905,pubmed:11595686,pubmed:11704866,pubmed:11801555,pubmed:11801559,pubmed:11923604,pubmed:11929815,pubmed:11981662,pubmed:12010886,pubmed:12093899,pubmed:12144684,pubmed:12176791,pubmed:12211048,pubmed:12447671,pubmed:12457032,pubmed:12509970,pubmed:12543796,pubmed:12648581,pubmed:12649174,pubmed:12713560,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12921629,cosmic_study:13,pubmed:1347252,pubmed:1390233,pubmed:1453775,pubmed:1461658,pubmed:14726385,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15246568,pubmed:15381906,pubmed:15492791,pubmed:15499621,pubmed:15541116,pubmed:15564288,pubmed:1565143,pubmed:15702478,pubmed:15802015,pubmed:15943041,pubmed:15956964,pubmed:16024113,pubmed:16059649,pubmed:16061860,pubmed:1617650,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16618716,pubmed:16760300,pubmed:17300232,pubmed:1730092,pubmed:17410283,pubmed:17417968,pubmed:17447881,pubmed:17523278,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17949449,pubmed:18025850,pubmed:1855226,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:21103049,pubmed:21150899,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:22037554,pubmed:22156295,pubmed:22178590,pubmed:22286061,pubmed:22609107,pubmed:22722201,pubmed:22810696,pubmed:22877736,pubmed:22895193,pubmed:22975805,pubmed:23168708,pubmed:23525077,pubmed:23526092,pubmed:23619168,pubmed:24140581,pubmed:24292195,pubmed:24797764,pubmed:24936796,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:38,cosmic_study:382,cosmic_study:385,cosmic_study:39,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:435,cosmic_study:440,cosmic_study:441,cosmic_study:448,cosmic_study:452,cosmic_study:453,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:498,cosmic_study:548,cosmic_study:561,cosmic_study:563,pubmed:7585578,pubmed:7606196,pubmed:7654857,pubmed:7665248,pubmed:7674088,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7860623,pubmed:7906253,pubmed:7981076,pubmed:7997263,pubmed:8033152,pubmed:8039163,pubmed:8058340,pubmed:8102535,pubmed:8180965,pubmed:8187092,pubmed:8219205,pubmed:8261448,pubmed:8338955,pubmed:8392033,pubmed:8481915,pubmed:8495424,pubmed:8617483,pubmed:8625484,pubmed:8640736,pubmed:8697967,pubmed:8718514,pubmed:8761369,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9155671,pubmed:9269965,pubmed:9413950,pubmed:9450908,pubmed:9460999,pubmed:9622088,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9703286,pubmed:9788444,pubmed:9792155,pubmed:9815858,pubmed:9815901,pubmed:9823556 17p13.1 17 7674230C> T null G S 86 86 missense 0.969 probably damaging 0.02 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000426307 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000434833 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000421020 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000434145 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000426568 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000437258 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026313 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000558455 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000438982 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000424123 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000439974 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000428216 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000421739 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000435854 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000418643 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000443716 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912656 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:2263646 pubmed:10089975,pubmed:10408409,pubmed:10637254,pubmed:10690522,pubmed:10753186,pubmed:10754498,pubmed:11044641,pubmed:11297255,pubmed:11309337,pubmed:11358811,pubmed:11389059,pubmed:11406538,pubmed:12649174,pubmed:12807758,pubmed:1348931,pubmed:1516069,pubmed:15564288,pubmed:15956964,pubmed:16000567,pubmed:16271749,pubmed:16322298,pubmed:16821082,pubmed:19739123,pubmed:21559688,pubmed:21720365,pubmed:21822264,pubmed:21901162,pubmed:2263646,pubmed:22980975,pubmed:23026641,pubmed:23575477,pubmed:23607916,pubmed:23873848,pubmed:24140581,cosmic_study:323,cosmic_study:331,cosmic_study:352,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:492,cosmic_study:548,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:7981076,pubmed:8033152,pubmed:8102535,pubmed:8338955,pubmed:8697967,pubmed:8866234,pubmed:8909247,pubmed:9349508,pubmed:9416838,pubmed:9646028,pubmed:9796697 17p13.1 17 7674229C> A null G V 86 86 missense 0.999 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000429303 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1019340046 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:10506718,pubmed:10735894,pubmed:10948316,pubmed:11764090,pubmed:14506148,pubmed:16024113,pubmed:1617650,pubmed:16818855,pubmed:1933879,pubmed:21533174,pubmed:21556624,pubmed:23033341,pubmed:23856246,cosmic_study:414,cosmic_study:456,cosmic_study:504,cosmic_study:582,pubmed:7598762,pubmed:7633655,pubmed:8389246 17p13.1 17 7674225C> T null M I 87 87 missense 0.196 benign 0.05 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561491 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1019340046 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10225439,pubmed:10506718,pubmed:10735894,pubmed:10948316,pubmed:11764090,pubmed:14506148,pubmed:16024113,pubmed:1617650,pubmed:16818855,pubmed:1933879,pubmed:21533174,pubmed:21556624,pubmed:23033341,pubmed:23856246,cosmic_study:414,cosmic_study:456,cosmic_study:504,cosmic_study:582,pubmed:7598762,pubmed:7633655,pubmed:8389246 17p13.1 17 7674225C> T null M I 87 87 missense 0.196 benign 0.05 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633390 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587780074 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: lung pubmed:10850436,pubmed:14712292,pubmed:21288114,pubmed:8001261 17p13.1 17 7674226A> T null M K 87 87 missense 0.993 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574219 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587780074 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: lung pubmed:10850436,pubmed:14712292,pubmed:21288114,pubmed:8001261 17p13.1 17 7674226A> T null M K 87 87 missense 0.993 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000797952 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs483352695 cosmic curated [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation pubmed:10492244,pubmed:22493262,pubmed:9376195 17p13.1 17 7674227T> G null M L 87 87 missense 0.196 benign 0.19 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166380 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs483352695 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract pubmed:10492244,pubmed:22493262,pubmed:9376195 17p13.1 17 7674227T> A null M L 87 87 missense 0.196 benign 0.19 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000470073 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587780074 cosmic curated [Cosmic]: breast, [Cosmic]: skin, [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10070891,pubmed:10690522,pubmed:11929815,pubmed:15802015,pubmed:16024113,pubmed:23592488,cosmic_study:329,cosmic_study:472,pubmed:7768632,pubmed:8631591,pubmed:8697989 17p13.1 17 7674226A> C null M R 87 87 missense 0.996 probably damaging 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587780074 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thyroid, [Cosmic]: biliary_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10564951,pubmed:10690522,pubmed:22495314,pubmed:24423316,cosmic_study:376,cosmic_study:384,pubmed:7651727,pubmed:8912828,pubmed:9815649 17p13.1 17 7674226A> G null M T 87 87 missense 0.996 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492075 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587780074 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thyroid, [Cosmic]: biliary_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10564951,pubmed:10690522,pubmed:22495314,pubmed:24423316,cosmic_study:376,cosmic_study:384,pubmed:7651727,pubmed:8912828,pubmed:9815649 17p13.1 17 7674226A> G null M T 87 87 missense 0.996 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000704600 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587780074 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thyroid, [Cosmic]: biliary_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10564951,pubmed:10690522,pubmed:22495314,pubmed:24423316,cosmic_study:376,cosmic_study:384,pubmed:7651727,pubmed:8912828,pubmed:9815649 17p13.1 17 7674226A> G null M T 87 87 missense 0.996 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785245 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs483352695 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10697269,pubmed:10699891,pubmed:10753186,pubmed:10780666,pubmed:11185887,pubmed:11932899,pubmed:11948487,pubmed:12176791,pubmed:12807758,pubmed:14688025,pubmed:14726385,pubmed:15298727,pubmed:16183105,pubmed:1655254,pubmed:17118779,pubmed:17266182,pubmed:17350822,pubmed:18772397,pubmed:2024123,pubmed:20668451,pubmed:21559688,pubmed:22561517,pubmed:22941188,pubmed:23788652,cosmic_study:332,cosmic_study:338,cosmic_study:375,cosmic_study:396,cosmic_study:423,cosmic_study:527,cosmic_study:583,pubmed:7723391,pubmed:8306343,pubmed:8934544,pubmed:9515788,pubmed:9823556,pubmed:9886570 17p13.1 17 7674227T> C null M V 87 87 missense 0.479 possibly damaging 0.01 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000161036 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs483352695 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10697269,pubmed:10699891,pubmed:10753186,pubmed:10780666,pubmed:11185887,pubmed:11932899,pubmed:11948487,pubmed:12176791,pubmed:12807758,pubmed:14688025,pubmed:14726385,pubmed:15298727,pubmed:16183105,pubmed:1655254,pubmed:17118779,pubmed:17266182,pubmed:17350822,pubmed:18772397,pubmed:2024123,pubmed:20668451,pubmed:21559688,pubmed:22561517,pubmed:22941188,pubmed:23788652,cosmic_study:332,cosmic_study:338,cosmic_study:375,cosmic_study:396,cosmic_study:423,cosmic_study:527,cosmic_study:583,pubmed:7723391,pubmed:8306343,pubmed:8934544,pubmed:9515788,pubmed:9823556,pubmed:9886570 17p13.1 17 7674227T> C null M V 87 87 missense 0.479 possibly damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000460370 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs483352695 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10697269,pubmed:10699891,pubmed:10753186,pubmed:10780666,pubmed:11185887,pubmed:11932899,pubmed:11948487,pubmed:12176791,pubmed:12807758,pubmed:14688025,pubmed:14726385,pubmed:15298727,pubmed:16183105,pubmed:1655254,pubmed:17118779,pubmed:17266182,pubmed:17350822,pubmed:18772397,pubmed:2024123,pubmed:20668451,pubmed:21559688,pubmed:22561517,pubmed:22941188,pubmed:23788652,cosmic_study:332,cosmic_study:338,cosmic_study:375,cosmic_study:396,cosmic_study:423,cosmic_study:527,cosmic_study:583,pubmed:7723391,pubmed:8306343,pubmed:8934544,pubmed:9515788,pubmed:9823556,pubmed:9886570 17p13.1 17 7674227T> C null M V 87 87 missense 0.479 possibly damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs483352695 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10697269,pubmed:10699891,pubmed:10753186,pubmed:10780666,pubmed:11185887,pubmed:11932899,pubmed:11948487,pubmed:12176791,pubmed:12807758,pubmed:14688025,pubmed:14726385,pubmed:15298727,pubmed:16183105,pubmed:1655254,pubmed:17118779,pubmed:17266182,pubmed:17350822,pubmed:18772397,pubmed:2024123,pubmed:20668451,pubmed:21559688,pubmed:22561517,pubmed:22941188,pubmed:23788652,cosmic_study:332,cosmic_study:338,cosmic_study:375,cosmic_study:396,cosmic_study:423,cosmic_study:527,cosmic_study:583,pubmed:7723391,pubmed:8306343,pubmed:8934544,pubmed:9515788,pubmed:9823556,pubmed:9886570 17p13.1 17 7674227T> C null M V 87 87 missense 0.479 possibly damaging 0.01 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785556 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1452189221 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: soft_tissue, [Cosmic]: urinary_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:11896204,pubmed:15098008,pubmed:15499621,pubmed:15643509,pubmed:7542226 17p13.1 17 7674224T> C null N D 88 88 missense 0.694 possibly damaging 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201762 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11895856,pubmed:1979160,pubmed:22975805,pubmed:22980975,cosmic_study:414,cosmic_study:431,cosmic_study:453,cosmic_study:582,cosmic_study:585 17p13.1 17 7674223T> A null N I 88 88 missense 0.995 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164218 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201762 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11895856,pubmed:1979160,pubmed:22975805,pubmed:22980975,cosmic_study:414,cosmic_study:431,cosmic_study:453,cosmic_study:582,cosmic_study:585 17p13.1 17 7674223T> A null N I 88 88 missense 0.995 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785503 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201762 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: soft_tissue, [Cosmic]: stomach, [Cosmic]: liver, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10743047,pubmed:15644779,pubmed:16177957,pubmed:17557246,pubmed:9121123 17p13.1 17 7674223T> C null N S 88 88 missense 0.452 possibly damaging 0.05 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000457243 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl rs1555525485 17p13.1 17 7674220_7674221insCGGTTCATGCCGCC C null R AA* 89 90 stop gained 0 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000435050 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000437882 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000441711 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Carcinoma of colon (CRC) Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. pubmed:17060676,pubmed:19042984,pubmed:20301390,pubmed:22138009,pubmed:22855150,pubmed:23012255,pubmed:23429431,pubmed:23852704,pubmed:24996433,pubmed:25006736,pubmed:25373533,ClinVar:RCV000626118 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Carcinoma of esophagus ClinVar:RCV000435353 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000425100 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Glioblastoma ClinVar:RCV000444356 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000441010 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026425 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633396 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000444519 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000427544 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000432207 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000440334 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000424776 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Myelodysplastic syndrome (MDS) Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). MIM:614286 ClinVar:RCV000432931 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Neoplasm of brain ClinVar:RCV000436038 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000420498 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000422668 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425782 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000418362 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000433611 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000427948 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000423297 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912651 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Carcinoma of colon, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Myelodysplastic syndrome, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11753042,pubmed:12649174,pubmed:1516069,pubmed:15337798,pubmed:15702478,pubmed:16024113,pubmed:16596195,pubmed:21720365,pubmed:22821383,pubmed:22975805,pubmed:23907151,pubmed:24797764,cosmic_study:331,cosmic_study:453,pubmed:8934544,pubmed:9665415 17p13.1 17 7674221G> C null R G 89 89 missense 0.926 probably damaging 0.02 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000417693 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000429221 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000445145 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000433865 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000439516 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000430044 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000443630 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000435726 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219834 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000991149 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000428586 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000443712 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000445266 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000423468 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000439901 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Myelodysplastic syndrome (MDS) Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). MIM:614286 ClinVar:RCV000424119 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000422303 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000437940 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000440686 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000433237 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000424394 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000434177 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000427307 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000422821 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1394225,pubmed:7682763 pubmed:10423403,pubmed:10582680,pubmed:10637254,pubmed:10735894,pubmed:10754498,pubmed:11191353,pubmed:11297255,pubmed:11325447,pubmed:11375957,pubmed:11494027,pubmed:11857392,pubmed:11929815,pubmed:12447615,pubmed:12771990,pubmed:1312896,pubmed:14618621,pubmed:15073856,pubmed:15161705,pubmed:15246568,pubmed:15257941,pubmed:15564288,pubmed:15644779,pubmed:16024113,pubmed:1638540,pubmed:16760300,pubmed:17001163,pubmed:17531558,pubmed:17683074,pubmed:1793482,pubmed:1855226,pubmed:18948947,pubmed:21726664,pubmed:22493262,pubmed:22722839,pubmed:22895193,pubmed:22911296,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23852799,pubmed:23856246,cosmic_study:329,cosmic_study:341,cosmic_study:382,cosmic_study:391,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:498,cosmic_study:504,pubmed:7549812,pubmed:7728762,pubmed:7812011,pubmed:7834636,pubmed:8119770,pubmed:8142008,pubmed:9218731,pubmed:9516924,pubmed:9649138,pubmed:9665415,pubmed:9815649,pubmed:9846966,pubmed:9852302 17p13.1 17 7674220C> A null R L 89 89 missense 0.995 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000417894 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000441018 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000425414 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000420292 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000441674 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000438849 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000431663 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000445077 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000229442 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000444130 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000430314 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000421633 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000436850 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000419610 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Myelodysplastic syndrome (MDS) Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). MIM:614286 ClinVar:RCV000424795 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000426089 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000434831 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000432999 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000418894 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000425773 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000444805 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000432304 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000435488 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs11540652 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Myelodysplastic syndrome, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10071127,pubmed:10675480,pubmed:12209590,pubmed:15057748,pubmed:15538112,pubmed:16996204,pubmed:20668451,pubmed:22261808,pubmed:22980975,cosmic_study:338,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7829392,pubmed:9060559,pubmed:9761125 17p13.1 17 7674220C> G null R P 89 89 missense 0.998 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000420936 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000417916 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Adenocarcinoma of prostate ClinVar:RCV000426233 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Adenocarcinoma of stomach ClinVar:RCV000428591 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Adrenocortical carcinoma, hereditary (ADCC) MIM:202300 ClinVar:RCV000763417 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Basal cell carcinoma, susceptibility to, 7 (BCC7) MIM:614740 ClinVar:RCV000763417 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Carcinoma of colon (CRC) Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. pubmed:17060676,pubmed:19042984,pubmed:20301390,pubmed:22138009,pubmed:22855150,pubmed:23012255,pubmed:23429431,pubmed:23852704,pubmed:24996433,pubmed:25006736,pubmed:25373533,ClinVar:RCV000763417 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Carcinoma of esophagus ClinVar:RCV000437291 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Carcinoma of pancreas MIM:260350 pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV000763417 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Choroid plexus papilloma (CPP) MIM:260500 ClinVar:RCV000763417 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000435533 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763417 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Glioblastoma ClinVar:RCV000445244 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Glioma susceptibility 1 (GLM1) MIM:137800 ClinVar:RCV000763417 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000438410,ClinVar:RCV000763417 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000115736 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000197114 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013150,ClinVar:RCV000763417 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Lip and oral cavity carcinoma ClinVar:RCV001255671 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000445235 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Lymphoma ClinVar:RCV000790860 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Malignant Colorectal Neoplasm ClinVar:RCV000589336 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000420727 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Malignant neoplasm of body of uterus ClinVar:RCV000437518 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000427709 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000424869 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Myelodysplastic syndrome (MDS) Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). MIM:614286 ClinVar:RCV000437935 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Nasopharyngeal carcinoma MIM:607107 ClinVar:RCV000763417 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Neoplasm pubmed:22918138,pubmed:23619274,ClinVar:RCV000426606 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Neoplasm of brain ClinVar:RCV000426359 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000419135 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000421893 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Osteosarcoma MIM:259500 ClinVar:RCV000763417 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Ovarian Neoplasms ClinVar:RCV000785344 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000421194 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Pancreatic adenocarcinoma ClinVar:RCV000439963 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Sarcoma (Liposarcoma) ClinVar:RCV000148913 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Small cell lung cancer MIM:182280 ClinVar:RCV000420303 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000444656 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Squamous cell lung carcinoma ClinVar:RCV000441226 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11540652 cosmic curated [Cosmic]: breast, [ClinVar]: Malignant Colorectal Neoplasm, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lymphoma, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: adrenal_gland, [ClinVar]: Sarcoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [Cosmic]: small_intestine, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: pituitary, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:7682763,pubmed:7887414 pubmed:10029095,pubmed:10070891,pubmed:10071127,pubmed:10203285,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10392633,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10607740,pubmed:10615230,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10697269,pubmed:10699891,pubmed:10706127,pubmed:10728699,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10797439,pubmed:10802655,pubmed:10811497,pubmed:10850436,pubmed:10914716,pubmed:10956404,pubmed:10999735,pubmed:10999741,cosmic_study:11,pubmed:11020858,pubmed:11044641,pubmed:11159175,pubmed:11161397,pubmed:11180073,pubmed:11229518,pubmed:11241240,pubmed:11244334,pubmed:11275993,pubmed:11299797,pubmed:11306496,pubmed:11309337,pubmed:11317955,pubmed:11329143,pubmed:11336244,pubmed:11353048,pubmed:11375957,pubmed:11389059,pubmed:11406538,pubmed:11410326,pubmed:11433398,pubmed:11468183,pubmed:11531258,pubmed:11595686,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11948487,pubmed:12032228,pubmed:12093899,pubmed:12144684,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12673679,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,cosmic_study:13,pubmed:1310070,pubmed:1324794,pubmed:1347252,pubmed:1453775,pubmed:14654050,pubmed:14688025,pubmed:14697642,pubmed:14714296,pubmed:1499939,pubmed:15039212,pubmed:15064998,pubmed:15099937,pubmed:15154647,pubmed:15221786,pubmed:15254976,pubmed:15499621,pubmed:15523690,pubmed:15541116,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:15656799,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15924253,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16322298,pubmed:1638540,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16532037,pubmed:16572201,pubmed:16785766,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:1683921,pubmed:16847456,pubmed:16959974,pubmed:17064992,pubmed:17118779,pubmed:1737400,pubmed:17388661,pubmed:17417968,pubmed:17447881,pubmed:17456604,pubmed:17531558,pubmed:17539962,pubmed:1766671,pubmed:17683074,pubmed:17692090,pubmed:17699855,pubmed:17704924,pubmed:17849424,pubmed:17881637,pubmed:17917588,pubmed:17949449,pubmed:17982662,pubmed:18025850,pubmed:18026859,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:2024123,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21163964,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21552959,pubmed:21665242,pubmed:21680795,pubmed:21720365,pubmed:21726664,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22156295,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22534715,pubmed:22609107,pubmed:22609129,pubmed:22610119,pubmed:2263646,pubmed:22722201,pubmed:22722829,pubmed:22723903,pubmed:22810696,pubmed:22820256,pubmed:22821383,pubmed:22895193,pubmed:22941188,pubmed:22980975,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23168708,pubmed:23196062,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23851445,pubmed:23852799,pubmed:23856246,pubmed:23917401,pubmed:23975423,pubmed:24121792,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:334,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:385,cosmic_study:392,cosmic_study:400,cosmic_study:401,cosmic_study:402,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:431,cosmic_study:435,cosmic_study:436,cosmic_study:440,cosmic_study:441,cosmic_study:452,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:479,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:504,cosmic_study:523,cosmic_study:552,cosmic_study:557,cosmic_study:561,cosmic_study:563,cosmic_study:581,cosmic_study:582,cosmic_study:585,pubmed:7576105,pubmed:7585578,pubmed:7591300,pubmed:7596184,pubmed:7598762,pubmed:7614480,pubmed:7658697,pubmed:7723391,pubmed:7728762,pubmed:7729734,pubmed:7777479,pubmed:7780983,pubmed:7812946,pubmed:7852189,pubmed:7860623,pubmed:7872723,pubmed:7882357,pubmed:7917542,pubmed:7981076,pubmed:8001261,pubmed:8009954,pubmed:8012986,pubmed:8033152,pubmed:8058340,pubmed:8075648,pubmed:8102535,pubmed:8106638,pubmed:8109252,pubmed:8119770,pubmed:8129036,pubmed:8137316,pubmed:8182933,pubmed:8187092,pubmed:8194706,pubmed:8198984,pubmed:8217795,pubmed:8219205,pubmed:8261444,pubmed:8280379,pubmed:8338955,pubmed:8392033,pubmed:8393371,pubmed:8402617,pubmed:8541549,pubmed:8569192,pubmed:8635153,pubmed:8639789,pubmed:8652390,pubmed:8655958,pubmed:8682586,pubmed:8688317,pubmed:8781571,pubmed:8821948,pubmed:8909247,pubmed:8956789,pubmed:8965097,pubmed:9030251,pubmed:9033644,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9058723,pubmed:9115587,pubmed:9155557,pubmed:9258660,pubmed:9262496,pubmed:9299424,pubmed:9349508,pubmed:9354678,pubmed:9367066,pubmed:9413950,pubmed:9416838,pubmed:9450908,pubmed:9460999,pubmed:9466649,pubmed:9485035,pubmed:9512119,pubmed:9516924,pubmed:9537240,pubmed:9579565,pubmed:9635683,pubmed:9639416,pubmed:9649138,pubmed:9650746,pubmed:9662254,pubmed:9738975,pubmed:9788444,pubmed:9796697,pubmed:9807634,pubmed:9816045,pubmed:9851256,pubmed:9886570 17p13.1 17 7674220C> T null R Q 89 89 missense 0.851 possibly damaging 0.07 tolerated 1 Uterine Carcinosarcoma ClinVar:RCV000432587 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000418495,ClinVar:RCV000735293 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000425682 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000430543 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000429884 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000423804 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Cognitive impairment ClinVar:RCV000735293 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000419150 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000435803 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000115735 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000168242 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013140 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Lip and oral cavity carcinoma ClinVar:RCV001255674 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000419032 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000442243 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000441091 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000440560 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000431508 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Myelodysplastic syndrome (MDS) Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). MIM:614286 ClinVar:RCV000425083 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm pubmed:22918138,pubmed:23619274,ClinVar:RCV000438698 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000433905 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000429777 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000440422 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785485 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000424415 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000444845 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Pectus excavatum MIM:169300 pubmed:22237449,ClinVar:RCV000735293 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000419857 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000423184 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000434504 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912651 cosmic curated [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Myelodysplastic syndrome, [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Pectus excavatum, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: pleura, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:1978757,pubmed:8829627 pubmed:10029095,pubmed:10070891,pubmed:10070948,pubmed:10223186,pubmed:10328221,pubmed:10348818,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10519384,pubmed:10589767,pubmed:10656431,pubmed:10674608,pubmed:10675480,pubmed:10690522,pubmed:10693987,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10748875,pubmed:10753186,pubmed:10754498,pubmed:10802655,pubmed:10830574,pubmed:10835493,pubmed:10918210,pubmed:10956404,pubmed:10962865,pubmed:10999741,cosmic_study:11,pubmed:11040944,pubmed:11044641,pubmed:11051241,pubmed:11053650,pubmed:11078762,pubmed:11079169,pubmed:11223675,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11353048,pubmed:11388392,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11494027,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11801555,pubmed:11801559,pubmed:11837710,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:12001123,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12209590,pubmed:12211048,pubmed:12217802,pubmed:12457032,pubmed:12509970,pubmed:12637159,pubmed:12649174,pubmed:12719725,pubmed:12795343,pubmed:12807758,pubmed:12861058,pubmed:12890146,pubmed:12921629,pubmed:12935924,cosmic_study:13,pubmed:1324794,pubmed:1346255,pubmed:1375111,pubmed:14641293,pubmed:14672397,pubmed:14688025,pubmed:14726385,pubmed:14962108,pubmed:14976538,pubmed:1497800,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15221786,pubmed:15246568,pubmed:15251969,pubmed:15308588,pubmed:15337798,pubmed:15363320,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15541116,pubmed:15564288,pubmed:15611505,pubmed:15643509,pubmed:15702478,pubmed:15802015,pubmed:15888787,pubmed:15915369,pubmed:16024113,pubmed:16061860,pubmed:16078640,pubmed:16174251,pubmed:1617650,pubmed:16183105,pubmed:16287491,pubmed:1630814,pubmed:1631137,pubmed:16322298,pubmed:16416221,pubmed:16459017,pubmed:16525665,pubmed:16528528,pubmed:16645236,pubmed:16818615,pubmed:16818855,pubmed:16821082,pubmed:16847456,pubmed:16890317,pubmed:16959974,pubmed:17079356,pubmed:17259658,pubmed:17300232,pubmed:1737400,pubmed:17388661,pubmed:17456604,pubmed:17573896,pubmed:17638058,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17727479,pubmed:17849424,pubmed:17881637,pubmed:17962810,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:1945416,pubmed:19739123,pubmed:1979160,pubmed:20668451,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21380628,pubmed:21409490,pubmed:21512767,pubmed:21533174,pubmed:21533448,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21796119,pubmed:21909114,pubmed:21984974,pubmed:22037554,pubmed:22178590,pubmed:22261808,pubmed:22286061,pubmed:22397650,pubmed:22495314,pubmed:22529031,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22722839,pubmed:22810696,pubmed:22817889,pubmed:22821383,pubmed:22895193,pubmed:22923510,pubmed:22975805,pubmed:22980975,pubmed:23033341,pubmed:23091298,pubmed:23104009,pubmed:23210734,pubmed:23292937,pubmed:23525077,pubmed:23700467,pubmed:23774526,pubmed:23907151,pubmed:23917401,pubmed:23975423,pubmed:24127483,pubmed:24292195,pubmed:24423316,pubmed:30535493,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:35,cosmic_study:357,cosmic_study:366,cosmic_study:375,cosmic_study:376,cosmic_study:378,cosmic_study:384,cosmic_study:385,cosmic_study:391,cosmic_study:409,cosmic_study:41,cosmic_study:413,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:434,cosmic_study:439,cosmic_study:444,cosmic_study:449,cosmic_study:452,cosmic_study:453,cosmic_study:456,cosmic_study:464,cosmic_study:479,cosmic_study:482,cosmic_study:485,cosmic_study:498,cosmic_study:523,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7633655,pubmed:7651727,pubmed:7665248,pubmed:7674088,pubmed:7730141,pubmed:7768632,pubmed:7777479,pubmed:7780983,pubmed:7860623,pubmed:7882357,pubmed:7883779,pubmed:7917901,pubmed:7930674,pubmed:7946294,pubmed:7957118,pubmed:7981076,pubmed:7997263,pubmed:8001261,pubmed:8033106,pubmed:8037181,pubmed:8058340,pubmed:8082516,pubmed:8102535,pubmed:8137263,pubmed:8180965,pubmed:8194706,pubmed:8261444,pubmed:8272291,pubmed:8306343,pubmed:8317886,pubmed:8392033,pubmed:8417784,pubmed:8473053,pubmed:8481915,pubmed:8495424,pubmed:8496613,pubmed:8548759,pubmed:8569192,pubmed:8631591,pubmed:8682586,pubmed:8688317,pubmed:8697989,pubmed:8781571,pubmed:8888799,pubmed:8910623,pubmed:8912828,pubmed:8934544,pubmed:8965097,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9056896,pubmed:9113074,pubmed:9138659,pubmed:9185695,pubmed:9212217,pubmed:9231161,pubmed:9262496,pubmed:9284834,pubmed:9360526,pubmed:9367066,pubmed:9413950,pubmed:9431782,pubmed:9445137,pubmed:9459157,pubmed:9460999,pubmed:9470817,pubmed:9512119,pubmed:9516924,pubmed:9537247,pubmed:9546285,pubmed:9568784,pubmed:9649138,pubmed:9650746,pubmed:9655287,pubmed:9665415,pubmed:9683299,pubmed:9761125,pubmed:9796697,pubmed:9816045,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9851256,pubmed:9921983 17p13.1 17 7674221G> A null R W 89 89 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000431689 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525498 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674221_7674222delinsA A null R W 89 89 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000499534 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000418381 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000419254 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000423993 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000427287 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000427933 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026460 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000467567 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000426656 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000436898 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000437517 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785305 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000444068 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000438863 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000436273 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000428633 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000429532 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782082 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10029095,pubmed:10492244,pubmed:10582680,pubmed:10674608,pubmed:11051241,pubmed:11275993,pubmed:12673679,pubmed:1324794,pubmed:14583777,pubmed:14670539,pubmed:14719105,pubmed:15098008,pubmed:15254976,pubmed:15337798,pubmed:16078640,pubmed:16183105,pubmed:17982662,pubmed:21720365,pubmed:22975805,pubmed:22980975,cosmic_study:331,cosmic_study:376,cosmic_study:417,cosmic_study:418,cosmic_study:431,cosmic_study:453,cosmic_study:583,cosmic_study:585,pubmed:7882357,pubmed:8012986,pubmed:9537247 17p13.1 17 7674218T> C null R G 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000421216 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Adenocarcinoma of prostate ClinVar:RCV000445113 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Adenocarcinoma of stomach ClinVar:RCV000419850 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Carcinoma of esophagus ClinVar:RCV000427275 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Glioblastoma ClinVar:RCV000429319 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000437502 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131246 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000430131 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Malignant neoplasm of body of uterus ClinVar:RCV000429077 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000420497 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000421647 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Pancreatic adenocarcinoma ClinVar:RCV000438874 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Small cell lung cancer MIM:182280 ClinVar:RCV000439985 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000440358 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Squamous cell lung carcinoma ClinVar:RCV000431473 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782329 cosmic curated [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:15057748,pubmed:15257314,pubmed:15298727,pubmed:15930341,pubmed:21552959,pubmed:21798893,pubmed:22561517,pubmed:23585556,cosmic_study:349,cosmic_study:396,pubmed:7780983,pubmed:8888799,pubmed:8916968 17p13.1 17 7674217C> T null R K 90 90 missense 0.872 possibly damaging 0.07 tolerated 1 Uterine Carcinosarcoma ClinVar:RCV000419499 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000439247 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000420945 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000431805 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000434651 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000421561 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000690948 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000422393 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000430463 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000429799 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of ovary MIM:167000 pubmed:19042984,pubmed:22964825,pubmed:23188549,ClinVar:RCV000782360 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785293 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000428988 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000440059 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000420239 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000437240 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000445070 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of ovary, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:17224074 pubmed:10091733,pubmed:10830574,pubmed:10850436,pubmed:10962443,pubmed:11704835,pubmed:12807758,pubmed:1310070,pubmed:14688025,pubmed:15161705,pubmed:16024113,pubmed:1630814,pubmed:17523278,pubmed:21901162,pubmed:22941189,pubmed:23788652,pubmed:24325359,pubmed:31628202,cosmic_study:328,cosmic_study:329,cosmic_study:417,cosmic_study:424,cosmic_study:527,cosmic_study:562,cosmic_study:585,pubmed:7549812,pubmed:7576105,pubmed:7615358,pubmed:7909871,pubmed:8108145,pubmed:8934544,pubmed:9460999,pubmed:9683822,pubmed:9699537,pubmed:9738975,pubmed:9761125 17p13.1 17 7674217C> A null R M 90 90 missense 0.999 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000445103 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs28934571 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: pleura, [Cosmic]: prostate, [UniProt]: sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: kidney, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: cervix pubmed:1694291,pubmed:16959974,pubmed:20385133 pubmed:10091733,pubmed:10092071,pubmed:10389750,pubmed:10389978,pubmed:10499619,pubmed:10582680,pubmed:10690522,pubmed:10706127,pubmed:10743047,pubmed:10846560,pubmed:11044641,pubmed:11051249,pubmed:11180073,pubmed:11191353,pubmed:11297255,pubmed:11375957,pubmed:11388392,pubmed:11776043,pubmed:11923604,pubmed:11929815,pubmed:12118324,pubmed:12759240,pubmed:12890146,pubmed:12935924,pubmed:1311638,pubmed:1324794,pubmed:1327523,pubmed:1349102,pubmed:14499690,pubmed:14618621,pubmed:14962108,pubmed:15126338,pubmed:15138567,pubmed:15161705,pubmed:15564288,pubmed:16024113,pubmed:16078640,pubmed:16447252,pubmed:1656362,pubmed:16645236,pubmed:16697535,pubmed:1672732,pubmed:16818855,pubmed:16959974,pubmed:17001163,pubmed:17079356,pubmed:17266182,pubmed:17521451,pubmed:17523278,pubmed:17531558,pubmed:17692090,pubmed:1849234,pubmed:1855226,pubmed:1979160,pubmed:20972464,pubmed:21597878,pubmed:21822264,pubmed:22561517,pubmed:22722829,pubmed:22722839,pubmed:22820256,pubmed:22941189,pubmed:22980975,pubmed:23168708,pubmed:23788652,pubmed:23799614,pubmed:23856246,pubmed:23975423,pubmed:24127483,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:352,cosmic_study:391,cosmic_study:396,cosmic_study:401,cosmic_study:402,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:431,cosmic_study:504,cosmic_study:513,cosmic_study:523,cosmic_study:527,cosmic_study:548,pubmed:7549812,pubmed:7615358,pubmed:7628866,pubmed:7674088,pubmed:7730141,pubmed:7767998,pubmed:7903205,pubmed:7957118,pubmed:7981076,pubmed:8033087,pubmed:8108145,pubmed:8290606,pubmed:8302580,pubmed:8311114,pubmed:8380058,pubmed:8382111,pubmed:8389246,pubmed:8390289,pubmed:8395458,pubmed:8655704,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:9012469,pubmed:9120715,pubmed:9120719,pubmed:9218731,pubmed:9231161,pubmed:9270015,pubmed:9466649,pubmed:9516924,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9736425,pubmed:9761125,pubmed:9846966 17p13.1 17 7674216C> G null R S 90 90 missense 0.98 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000465003 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs28934571 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [ClinVar]: Carcinoma of cervix, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: cervix, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10092071,pubmed:10389750,pubmed:10389978,pubmed:10499619,pubmed:10582680,pubmed:10690522,pubmed:10706127,pubmed:10743047,pubmed:10846560,pubmed:11044641,pubmed:11051249,pubmed:11180073,pubmed:11191353,pubmed:11297255,pubmed:11375957,pubmed:11388392,pubmed:11776043,pubmed:11923604,pubmed:11929815,pubmed:12118324,pubmed:12759240,pubmed:12890146,pubmed:12935924,pubmed:1311638,pubmed:1324794,pubmed:1327523,pubmed:1349102,pubmed:14499690,pubmed:14618621,pubmed:14962108,pubmed:15126338,pubmed:15138567,pubmed:15161705,pubmed:15564288,pubmed:16024113,pubmed:16078640,pubmed:16447252,pubmed:1656362,pubmed:16645236,pubmed:16697535,pubmed:1672732,pubmed:16818855,pubmed:16959974,pubmed:17001163,pubmed:17079356,pubmed:17266182,pubmed:17521451,pubmed:17523278,pubmed:17531558,pubmed:17692090,pubmed:1849234,pubmed:1855226,pubmed:1979160,pubmed:20972464,pubmed:21597878,pubmed:21822264,pubmed:22561517,pubmed:22722829,pubmed:22722839,pubmed:22820256,pubmed:22941189,pubmed:22980975,pubmed:23168708,pubmed:23788652,pubmed:23799614,pubmed:23856246,pubmed:23975423,pubmed:24127483,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:352,cosmic_study:391,cosmic_study:396,cosmic_study:401,cosmic_study:402,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:431,cosmic_study:504,cosmic_study:513,cosmic_study:523,cosmic_study:527,cosmic_study:548,pubmed:7549812,pubmed:7615358,pubmed:7628866,pubmed:7674088,pubmed:7730141,pubmed:7767998,pubmed:7903205,pubmed:7957118,pubmed:7981076,pubmed:8033087,pubmed:8108145,pubmed:8290606,pubmed:8302580,pubmed:8311114,pubmed:8380058,pubmed:8382111,pubmed:8389246,pubmed:8390289,pubmed:8395458,pubmed:8655704,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:9012469,pubmed:9120715,pubmed:9120719,pubmed:9218731,pubmed:9231161,pubmed:9270015,pubmed:9466649,pubmed:9516924,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9736425,pubmed:9761125,pubmed:9846966 17p13.1 17 7674216C> A null R S 90 90 missense 0.98 probably damaging 0.0 deleterious 1 Carcinoma of cervix MIM:603956 ClinVar:RCV000013146 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs28934571 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [ClinVar]: Carcinoma of cervix, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: cervix, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10092071,pubmed:10389750,pubmed:10389978,pubmed:10499619,pubmed:10582680,pubmed:10690522,pubmed:10706127,pubmed:10743047,pubmed:10846560,pubmed:11044641,pubmed:11051249,pubmed:11180073,pubmed:11191353,pubmed:11297255,pubmed:11375957,pubmed:11388392,pubmed:11776043,pubmed:11923604,pubmed:11929815,pubmed:12118324,pubmed:12759240,pubmed:12890146,pubmed:12935924,pubmed:1311638,pubmed:1324794,pubmed:1327523,pubmed:1349102,pubmed:14499690,pubmed:14618621,pubmed:14962108,pubmed:15126338,pubmed:15138567,pubmed:15161705,pubmed:15564288,pubmed:16024113,pubmed:16078640,pubmed:16447252,pubmed:1656362,pubmed:16645236,pubmed:16697535,pubmed:1672732,pubmed:16818855,pubmed:16959974,pubmed:17001163,pubmed:17079356,pubmed:17266182,pubmed:17521451,pubmed:17523278,pubmed:17531558,pubmed:17692090,pubmed:1849234,pubmed:1855226,pubmed:1979160,pubmed:20972464,pubmed:21597878,pubmed:21822264,pubmed:22561517,pubmed:22722829,pubmed:22722839,pubmed:22820256,pubmed:22941189,pubmed:22980975,pubmed:23168708,pubmed:23788652,pubmed:23799614,pubmed:23856246,pubmed:23975423,pubmed:24127483,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:352,cosmic_study:391,cosmic_study:396,cosmic_study:401,cosmic_study:402,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:431,cosmic_study:504,cosmic_study:513,cosmic_study:523,cosmic_study:527,cosmic_study:548,pubmed:7549812,pubmed:7615358,pubmed:7628866,pubmed:7674088,pubmed:7730141,pubmed:7767998,pubmed:7903205,pubmed:7957118,pubmed:7981076,pubmed:8033087,pubmed:8108145,pubmed:8290606,pubmed:8302580,pubmed:8311114,pubmed:8380058,pubmed:8382111,pubmed:8389246,pubmed:8390289,pubmed:8395458,pubmed:8655704,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:9012469,pubmed:9120715,pubmed:9120719,pubmed:9218731,pubmed:9231161,pubmed:9270015,pubmed:9466649,pubmed:9516924,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9736425,pubmed:9761125,pubmed:9846966 17p13.1 17 7674216C> A null R S 90 90 missense 0.98 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000013145 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs28934571 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [ClinVar]: Carcinoma of cervix, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: cervix, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10092071,pubmed:10389750,pubmed:10389978,pubmed:10499619,pubmed:10582680,pubmed:10690522,pubmed:10706127,pubmed:10743047,pubmed:10846560,pubmed:11044641,pubmed:11051249,pubmed:11180073,pubmed:11191353,pubmed:11297255,pubmed:11375957,pubmed:11388392,pubmed:11776043,pubmed:11923604,pubmed:11929815,pubmed:12118324,pubmed:12759240,pubmed:12890146,pubmed:12935924,pubmed:1311638,pubmed:1324794,pubmed:1327523,pubmed:1349102,pubmed:14499690,pubmed:14618621,pubmed:14962108,pubmed:15126338,pubmed:15138567,pubmed:15161705,pubmed:15564288,pubmed:16024113,pubmed:16078640,pubmed:16447252,pubmed:1656362,pubmed:16645236,pubmed:16697535,pubmed:1672732,pubmed:16818855,pubmed:16959974,pubmed:17001163,pubmed:17079356,pubmed:17266182,pubmed:17521451,pubmed:17523278,pubmed:17531558,pubmed:17692090,pubmed:1849234,pubmed:1855226,pubmed:1979160,pubmed:20972464,pubmed:21597878,pubmed:21822264,pubmed:22561517,pubmed:22722829,pubmed:22722839,pubmed:22820256,pubmed:22941189,pubmed:22980975,pubmed:23168708,pubmed:23788652,pubmed:23799614,pubmed:23856246,pubmed:23975423,pubmed:24127483,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:352,cosmic_study:391,cosmic_study:396,cosmic_study:401,cosmic_study:402,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:431,cosmic_study:504,cosmic_study:513,cosmic_study:523,cosmic_study:527,cosmic_study:548,pubmed:7549812,pubmed:7615358,pubmed:7628866,pubmed:7674088,pubmed:7730141,pubmed:7767998,pubmed:7903205,pubmed:7957118,pubmed:7981076,pubmed:8033087,pubmed:8108145,pubmed:8290606,pubmed:8302580,pubmed:8311114,pubmed:8380058,pubmed:8382111,pubmed:8389246,pubmed:8390289,pubmed:8395458,pubmed:8655704,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:9012469,pubmed:9120715,pubmed:9120719,pubmed:9218731,pubmed:9231161,pubmed:9270015,pubmed:9466649,pubmed:9516924,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9736425,pubmed:9761125,pubmed:9846966 17p13.1 17 7674216C> A null R S 90 90 missense 0.98 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579519 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs28934571 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [ClinVar]: Carcinoma of cervix, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: cervix, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10092071,pubmed:10389750,pubmed:10389978,pubmed:10499619,pubmed:10582680,pubmed:10690522,pubmed:10706127,pubmed:10743047,pubmed:10846560,pubmed:11044641,pubmed:11051249,pubmed:11180073,pubmed:11191353,pubmed:11297255,pubmed:11375957,pubmed:11388392,pubmed:11776043,pubmed:11923604,pubmed:11929815,pubmed:12118324,pubmed:12759240,pubmed:12890146,pubmed:12935924,pubmed:1311638,pubmed:1324794,pubmed:1327523,pubmed:1349102,pubmed:14499690,pubmed:14618621,pubmed:14962108,pubmed:15126338,pubmed:15138567,pubmed:15161705,pubmed:15564288,pubmed:16024113,pubmed:16078640,pubmed:16447252,pubmed:1656362,pubmed:16645236,pubmed:16697535,pubmed:1672732,pubmed:16818855,pubmed:16959974,pubmed:17001163,pubmed:17079356,pubmed:17266182,pubmed:17521451,pubmed:17523278,pubmed:17531558,pubmed:17692090,pubmed:1849234,pubmed:1855226,pubmed:1979160,pubmed:20972464,pubmed:21597878,pubmed:21822264,pubmed:22561517,pubmed:22722829,pubmed:22722839,pubmed:22820256,pubmed:22941189,pubmed:22980975,pubmed:23168708,pubmed:23788652,pubmed:23799614,pubmed:23856246,pubmed:23975423,pubmed:24127483,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:352,cosmic_study:391,cosmic_study:396,cosmic_study:401,cosmic_study:402,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:431,cosmic_study:504,cosmic_study:513,cosmic_study:523,cosmic_study:527,cosmic_study:548,pubmed:7549812,pubmed:7615358,pubmed:7628866,pubmed:7674088,pubmed:7730141,pubmed:7767998,pubmed:7903205,pubmed:7957118,pubmed:7981076,pubmed:8033087,pubmed:8108145,pubmed:8290606,pubmed:8302580,pubmed:8311114,pubmed:8380058,pubmed:8382111,pubmed:8389246,pubmed:8390289,pubmed:8395458,pubmed:8655704,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:9012469,pubmed:9120715,pubmed:9120719,pubmed:9218731,pubmed:9231161,pubmed:9270015,pubmed:9466649,pubmed:9516924,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9736425,pubmed:9761125,pubmed:9846966 17p13.1 17 7674216C> A null R S 90 90 missense 0.98 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000464372 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs28934571 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [ClinVar]: Carcinoma of cervix, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: cervix, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pleura, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10091733,pubmed:10092071,pubmed:10389750,pubmed:10389978,pubmed:10499619,pubmed:10582680,pubmed:10690522,pubmed:10706127,pubmed:10743047,pubmed:10846560,pubmed:11044641,pubmed:11051249,pubmed:11180073,pubmed:11191353,pubmed:11297255,pubmed:11375957,pubmed:11388392,pubmed:11776043,pubmed:11923604,pubmed:11929815,pubmed:12118324,pubmed:12759240,pubmed:12890146,pubmed:12935924,pubmed:1311638,pubmed:1324794,pubmed:1327523,pubmed:1349102,pubmed:14499690,pubmed:14618621,pubmed:14962108,pubmed:15126338,pubmed:15138567,pubmed:15161705,pubmed:15564288,pubmed:16024113,pubmed:16078640,pubmed:16447252,pubmed:1656362,pubmed:16645236,pubmed:16697535,pubmed:1672732,pubmed:16818855,pubmed:16959974,pubmed:17001163,pubmed:17079356,pubmed:17266182,pubmed:17521451,pubmed:17523278,pubmed:17531558,pubmed:17692090,pubmed:1849234,pubmed:1855226,pubmed:1979160,pubmed:20972464,pubmed:21597878,pubmed:21822264,pubmed:22561517,pubmed:22722829,pubmed:22722839,pubmed:22820256,pubmed:22941189,pubmed:22980975,pubmed:23168708,pubmed:23788652,pubmed:23799614,pubmed:23856246,pubmed:23975423,pubmed:24127483,pubmed:24140581,cosmic_study:323,cosmic_study:328,cosmic_study:352,cosmic_study:391,cosmic_study:396,cosmic_study:401,cosmic_study:402,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:424,cosmic_study:431,cosmic_study:504,cosmic_study:513,cosmic_study:523,cosmic_study:527,cosmic_study:548,pubmed:7549812,pubmed:7615358,pubmed:7628866,pubmed:7674088,pubmed:7730141,pubmed:7767998,pubmed:7903205,pubmed:7957118,pubmed:7981076,pubmed:8033087,pubmed:8108145,pubmed:8290606,pubmed:8302580,pubmed:8311114,pubmed:8380058,pubmed:8382111,pubmed:8389246,pubmed:8390289,pubmed:8395458,pubmed:8655704,pubmed:8887073,pubmed:8909247,pubmed:8934544,pubmed:9012469,pubmed:9120715,pubmed:9120719,pubmed:9218731,pubmed:9231161,pubmed:9270015,pubmed:9466649,pubmed:9516924,pubmed:9614374,pubmed:9662254,pubmed:9699537,pubmed:9736425,pubmed:9761125,pubmed:9846966 17p13.1 17 7674216C> A null R S 90 90 missense 0.98 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785491 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000444945 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000432872 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000440254 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000444506 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000422597 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000438147 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000445262 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000425028 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000420349 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000426063 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000423288 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000431816 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000441532 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000430687 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000424367 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587782329 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415 17p13.1 17 7674217C> G null R T 90 90 missense 0.997 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000440948 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000432429 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000431276 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000444809 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Carcinoma of esophagus ClinVar:RCV000417537 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Glioblastoma ClinVar:RCV000434278 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000426167 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130578 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000423307 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000432948 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000440994 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000424980 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000433563 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000435888 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000443796 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000425504 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587782082 cosmic curated [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10850436,pubmed:11929815,pubmed:12093899,pubmed:12921629,pubmed:14618621,pubmed:15161705,pubmed:16024113,pubmed:17557246,pubmed:20823136,pubmed:22493262,pubmed:22941188,pubmed:23525077,cosmic_study:323,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:464,cosmic_study:583,pubmed:7585578,pubmed:7628866,pubmed:8119770,pubmed:8293534,pubmed:8312582,pubmed:8483937,pubmed:9033644,pubmed:9043035,pubmed:9655287 17p13.1 17 7674218T> A null R W 90 90 missense 1.0 probably damaging 0.01 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000418238 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064794311 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: thyroid, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10188905,pubmed:10328221,pubmed:10564952,pubmed:10656431,pubmed:10830574,pubmed:11044641,pubmed:11161397,pubmed:11229518,pubmed:11406538,pubmed:11857392,pubmed:12118324,pubmed:12713560,pubmed:14719105,pubmed:15057748,pubmed:15523690,pubmed:15564288,pubmed:16183105,pubmed:16596195,pubmed:17259658,pubmed:17410283,pubmed:17531558,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21901162,pubmed:22495314,pubmed:23407552,pubmed:23917401,pubmed:24292195,cosmic_study:331,cosmic_study:375,cosmic_study:382,cosmic_study:384,cosmic_study:417,cosmic_study:418,cosmic_study:552,cosmic_study:563,pubmed:8286219,pubmed:8408453,pubmed:8569192,pubmed:8617082,pubmed:8630996,pubmed:9284834,pubmed:9349508,pubmed:9431782,pubmed:9823556 17p13.1 17 7674214G> A null P L 91 91 missense 0.994 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026502 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064794311 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: thyroid, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10188905,pubmed:10328221,pubmed:10564952,pubmed:10656431,pubmed:10830574,pubmed:11044641,pubmed:11161397,pubmed:11229518,pubmed:11406538,pubmed:11857392,pubmed:12118324,pubmed:12713560,pubmed:14719105,pubmed:15057748,pubmed:15523690,pubmed:15564288,pubmed:16183105,pubmed:16596195,pubmed:17259658,pubmed:17410283,pubmed:17531558,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21901162,pubmed:22495314,pubmed:23407552,pubmed:23917401,pubmed:24292195,cosmic_study:331,cosmic_study:375,cosmic_study:382,cosmic_study:384,cosmic_study:417,cosmic_study:418,cosmic_study:552,cosmic_study:563,pubmed:8286219,pubmed:8408453,pubmed:8569192,pubmed:8617082,pubmed:8630996,pubmed:9284834,pubmed:9349508,pubmed:9431782,pubmed:9823556 17p13.1 17 7674214G> A null P L 91 91 missense 0.994 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000547538 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567549203 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674215de l null I null 92 92 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785350 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882007 cosmic curated [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:21097718,pubmed:22286061,pubmed:22290393,cosmic_study:344 17p13.1 17 7674212T> G null I L 92 92 missense 0.375 benign 0.09 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492548 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs730882007 cosmic curated [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:21097718,pubmed:22286061,pubmed:22290393,cosmic_study:344 17p13.1 17 7674212T> G null I L 92 92 missense 0.375 benign 0.09 tolerated 1 Ovarian Neoplasms ClinVar:RCV000785277 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs878854074 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [UniProt]: germline mutation, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: lung pubmed:24942490 17p13.1 17 7674210G> C null I M 92 92 missense 0.981 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564022 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs878854074 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [UniProt]: germline mutation, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: lung pubmed:24942490 17p13.1 17 7674210G> C null I M 92 92 missense 0.981 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633326 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs878854074 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [UniProt]: germline mutation, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: lung pubmed:24942490 17p13.1 17 7674210G> C null I M 92 92 missense 0.981 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs730882027 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11306496,pubmed:11309337,pubmed:12637159,pubmed:22610119,pubmed:22842228,pubmed:22891273,cosmic_study:392,cosmic_study:457,cosmic_study:511,pubmed:8402617,pubmed:9537247 17p13.1 17 7674211A> T null I N 92 92 missense 0.991 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633360 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs730882027 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:17224074 pubmed:10780666,pubmed:11776043,pubmed:16322298,pubmed:17573896,pubmed:21720365,pubmed:24797764,cosmic_study:331,pubmed:8312582,pubmed:8392033,pubmed:8950983,pubmed:9262496,pubmed:9367066 17p13.1 17 7674211A> C null I S 92 92 missense 0.981 probably damaging 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs730882027 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: stomach, [Cosmic]: large_intestine pubmed:11299797,pubmed:15643509,cosmic_study:375,cosmic_study:376 17p13.1 17 7674211A> G null I T 92 92 missense 0.573 possibly damaging 0.01 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525470 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674210de l null L null 93 93 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575325 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912653 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:1978757 pubmed:10070891,pubmed:10728699,pubmed:18070208,pubmed:21409490,cosmic_study:371,cosmic_study:376,cosmic_study:414,pubmed:8826941 17p13.1 17 7674208A> G null L P 93 93 missense 0.987 probably damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001213570 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912653 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:1978757 pubmed:10070891,pubmed:10728699,pubmed:18070208,pubmed:21409490,cosmic_study:371,cosmic_study:376,cosmic_study:414,pubmed:8826941 17p13.1 17 7674208A> G null L P 93 93 missense 0.987 probably damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912653 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:1978757 pubmed:10070891,pubmed:10728699,pubmed:18070208,pubmed:21409490,cosmic_study:371,cosmic_study:376,cosmic_study:414,pubmed:8826941 17p13.1 17 7674208A> G null L P 93 93 missense 0.987 probably damaging 0.01 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013143 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597364185 NCI-TCGA Cosmic [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p13.1 17 7674206T> C null T A 94 94 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026581 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597364131 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674205_7674207du p null T null 94 94 insertion 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026586 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525465 NCI-TCGA Cosmic [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation pubmed:15643509,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674205G> T null T N 94 94 missense 0.915 probably damaging 0.01 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567549129 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7674205de l null I null 95 95 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785554 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1330865474 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:1333465,pubmed:1375111,pubmed:17573896,pubmed:17881637,pubmed:22286061,pubmed:22895193,cosmic_study:329,cosmic_study:452,cosmic_study:583,pubmed:9262496 17p13.1 17 7674202A> C null I S 95 95 missense 0.959 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000816469 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Adrenocortical carcinoma, hereditary (ADCC) MIM:202300 ClinVar:RCV000765398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Basal cell carcinoma, susceptibility to, 7 (BCC7) MIM:614740 ClinVar:RCV000765398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Carcinoma of colon (CRC) Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. pubmed:17060676,pubmed:19042984,pubmed:20301390,pubmed:22138009,pubmed:22855150,pubmed:23012255,pubmed:23429431,pubmed:23852704,pubmed:24996433,pubmed:25006736,pubmed:25373533,ClinVar:RCV000765398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Carcinoma of pancreas MIM:260350 pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV000765398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Choroid plexus papilloma (CPP) MIM:260500 ClinVar:RCV000765398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Glioma susceptibility 1 (GLM1) MIM:137800 ClinVar:RCV000765398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000765398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573924 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000477424 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000765398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Nasopharyngeal carcinoma MIM:607107 ClinVar:RCV000765398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs746601313 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10811497,pubmed:15370252,pubmed:16596195,pubmed:22634756,cosmic_study:323,cosmic_study:403 17p13.1 17 7674203T> C null I V 95 95 missense 0.082 benign 0.23 tolerated 1 Osteosarcoma MIM:259500 ClinVar:RCV000765398 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11468183,pubmed:18772397,pubmed:20668451,cosmic_study:328,cosmic_study:332,cosmic_study:338,cosmic_study:414,pubmed:8187092 17p13.1 17 7674199A> T null I N 96 96 missense 0.961 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000433813 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11468183,pubmed:18772397,pubmed:20668451,cosmic_study:328,cosmic_study:332,cosmic_study:338,cosmic_study:414,pubmed:8187092 17p13.1 17 7674199A> T null I N 96 96 missense 0.961 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000422868 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11468183,pubmed:18772397,pubmed:20668451,cosmic_study:328,cosmic_study:332,cosmic_study:338,cosmic_study:414,pubmed:8187092 17p13.1 17 7674199A> T null I N 96 96 missense 0.961 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000425285 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11468183,pubmed:18772397,pubmed:20668451,cosmic_study:328,cosmic_study:332,cosmic_study:338,cosmic_study:414,pubmed:8187092 17p13.1 17 7674199A> T null I N 96 96 missense 0.961 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221023 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11468183,pubmed:18772397,pubmed:20668451,cosmic_study:328,cosmic_study:332,cosmic_study:338,cosmic_study:414,pubmed:8187092 17p13.1 17 7674199A> T null I N 96 96 missense 0.961 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633370 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11468183,pubmed:18772397,pubmed:20668451,cosmic_study:328,cosmic_study:332,cosmic_study:338,cosmic_study:414,pubmed:8187092 17p13.1 17 7674199A> T null I N 96 96 missense 0.961 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000440110 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11468183,pubmed:18772397,pubmed:20668451,cosmic_study:328,cosmic_study:332,cosmic_study:338,cosmic_study:414,pubmed:8187092 17p13.1 17 7674199A> T null I N 96 96 missense 0.961 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000441998 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11468183,pubmed:18772397,pubmed:20668451,cosmic_study:328,cosmic_study:332,cosmic_study:338,cosmic_study:414,pubmed:8187092 17p13.1 17 7674199A> T null I N 96 96 missense 0.961 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000432689 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus pubmed:10706127,pubmed:11468183,pubmed:18772397,pubmed:20668451,cosmic_study:328,cosmic_study:332,cosmic_study:338,cosmic_study:414,pubmed:8187092 17p13.1 17 7674199A> T null I N 96 96 missense 0.961 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000432486 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:11595686,pubmed:12001123,pubmed:16174251,pubmed:23770606,pubmed:23917401,cosmic_study:329,cosmic_study:414,cosmic_study:486,cosmic_study:552,cosmic_study:582,pubmed:7777479,pubmed:9736425 17p13.1 17 7674199A> C null I S 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000420747 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:11595686,pubmed:12001123,pubmed:16174251,pubmed:23770606,pubmed:23917401,cosmic_study:329,cosmic_study:414,cosmic_study:486,cosmic_study:552,cosmic_study:582,pubmed:7777479,pubmed:9736425 17p13.1 17 7674199A> C null I S 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000417507 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:11595686,pubmed:12001123,pubmed:16174251,pubmed:23770606,pubmed:23917401,cosmic_study:329,cosmic_study:414,cosmic_study:486,cosmic_study:552,cosmic_study:582,pubmed:7777479,pubmed:9736425 17p13.1 17 7674199A> C null I S 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000441277 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:11595686,pubmed:12001123,pubmed:16174251,pubmed:23770606,pubmed:23917401,cosmic_study:329,cosmic_study:414,cosmic_study:486,cosmic_study:552,cosmic_study:582,pubmed:7777479,pubmed:9736425 17p13.1 17 7674199A> C null I S 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001225201 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:11595686,pubmed:12001123,pubmed:16174251,pubmed:23770606,pubmed:23917401,cosmic_study:329,cosmic_study:414,cosmic_study:486,cosmic_study:552,cosmic_study:582,pubmed:7777479,pubmed:9736425 17p13.1 17 7674199A> C null I S 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000428170 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:11595686,pubmed:12001123,pubmed:16174251,pubmed:23770606,pubmed:23917401,cosmic_study:329,cosmic_study:414,cosmic_study:486,cosmic_study:552,cosmic_study:582,pubmed:7777479,pubmed:9736425 17p13.1 17 7674199A> C null I S 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000441504 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:11595686,pubmed:12001123,pubmed:16174251,pubmed:23770606,pubmed:23917401,cosmic_study:329,cosmic_study:414,cosmic_study:486,cosmic_study:552,cosmic_study:582,pubmed:7777479,pubmed:9736425 17p13.1 17 7674199A> C null I S 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000430544 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10092071,pubmed:11595686,pubmed:12001123,pubmed:16174251,pubmed:23770606,pubmed:23917401,cosmic_study:329,cosmic_study:414,cosmic_study:486,cosmic_study:552,cosmic_study:582,pubmed:7777479,pubmed:9736425 17p13.1 17 7674199A> C null I S 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000423148 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11375957,pubmed:12209590,pubmed:14719105,pubmed:15778432,pubmed:21512767,pubmed:23091298,pubmed:9738975 17p13.1 17 7674199A> G null I T 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000420356 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11375957,pubmed:12209590,pubmed:14719105,pubmed:15778432,pubmed:21512767,pubmed:23091298,pubmed:9738975 17p13.1 17 7674199A> G null I T 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000420641 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11375957,pubmed:12209590,pubmed:14719105,pubmed:15778432,pubmed:21512767,pubmed:23091298,pubmed:9738975 17p13.1 17 7674199A> G null I T 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000427837 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11375957,pubmed:12209590,pubmed:14719105,pubmed:15778432,pubmed:21512767,pubmed:23091298,pubmed:9738975 17p13.1 17 7674199A> G null I T 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000458707 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11375957,pubmed:12209590,pubmed:14719105,pubmed:15778432,pubmed:21512767,pubmed:23091298,pubmed:9738975 17p13.1 17 7674199A> G null I T 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000437646 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11375957,pubmed:12209590,pubmed:14719105,pubmed:15778432,pubmed:21512767,pubmed:23091298,pubmed:9738975 17p13.1 17 7674199A> G null I T 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000435232 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11375957,pubmed:12209590,pubmed:14719105,pubmed:15778432,pubmed:21512767,pubmed:23091298,pubmed:9738975 17p13.1 17 7674199A> G null I T 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000424525 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659675 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:11375957,pubmed:12209590,pubmed:14719105,pubmed:15778432,pubmed:21512767,pubmed:23091298,pubmed:9738975 17p13.1 17 7674199A> G null I T 96 96 missense 0.875 possibly damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000442535 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1064794309 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674199_7674201ATG[1 ] null I null 96 96 inframe deletion 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000525682 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519995 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10223186,pubmed:10753186,pubmed:11857392,pubmed:12648581,pubmed:15523690,pubmed:16461462,pubmed:17573896,pubmed:18948947,pubmed:21060032,pubmed:21796119,pubmed:22825745,pubmed:22980975,pubmed:23415222,pubmed:23525077,cosmic_study:341,cosmic_study:366,cosmic_study:414,cosmic_study:431,cosmic_study:464,cosmic_study:465,cosmic_study:582,cosmic_study:585,pubmed:8187092,pubmed:8293534,pubmed:8382111,pubmed:9052405,pubmed:9816225 17p13.1 17 7674200T> A null I F 96 96 missense 0.053 benign 0.35 tolerated 1 Carcinoma of esophagus ClinVar:RCV000436027 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519995 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10223186,pubmed:10753186,pubmed:11857392,pubmed:12648581,pubmed:15523690,pubmed:16461462,pubmed:17573896,pubmed:18948947,pubmed:21060032,pubmed:21796119,pubmed:22825745,pubmed:22980975,pubmed:23415222,pubmed:23525077,cosmic_study:341,cosmic_study:366,cosmic_study:414,cosmic_study:431,cosmic_study:464,cosmic_study:465,cosmic_study:582,cosmic_study:585,pubmed:8187092,pubmed:8293534,pubmed:8382111,pubmed:9052405,pubmed:9816225 17p13.1 17 7674200T> A null I F 96 96 missense 0.053 benign 0.35 tolerated 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000436676 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519995 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10223186,pubmed:10753186,pubmed:11857392,pubmed:12648581,pubmed:15523690,pubmed:16461462,pubmed:17573896,pubmed:18948947,pubmed:21060032,pubmed:21796119,pubmed:22825745,pubmed:22980975,pubmed:23415222,pubmed:23525077,cosmic_study:341,cosmic_study:366,cosmic_study:414,cosmic_study:431,cosmic_study:464,cosmic_study:465,cosmic_study:582,cosmic_study:585,pubmed:8187092,pubmed:8293534,pubmed:8382111,pubmed:9052405,pubmed:9816225 17p13.1 17 7674200T> A null I F 96 96 missense 0.053 benign 0.35 tolerated 1 Glioblastoma ClinVar:RCV000435616 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519995 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10223186,pubmed:10753186,pubmed:11857392,pubmed:12648581,pubmed:15523690,pubmed:16461462,pubmed:17573896,pubmed:18948947,pubmed:21060032,pubmed:21796119,pubmed:22825745,pubmed:22980975,pubmed:23415222,pubmed:23525077,cosmic_study:341,cosmic_study:366,cosmic_study:414,cosmic_study:431,cosmic_study:464,cosmic_study:465,cosmic_study:582,cosmic_study:585,pubmed:8187092,pubmed:8293534,pubmed:8382111,pubmed:9052405,pubmed:9816225 17p13.1 17 7674200T> A null I F 96 96 missense 0.053 benign 0.35 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000425759 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519995 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10223186,pubmed:10753186,pubmed:11857392,pubmed:12648581,pubmed:15523690,pubmed:16461462,pubmed:17573896,pubmed:18948947,pubmed:21060032,pubmed:21796119,pubmed:22825745,pubmed:22980975,pubmed:23415222,pubmed:23525077,cosmic_study:341,cosmic_study:366,cosmic_study:414,cosmic_study:431,cosmic_study:464,cosmic_study:465,cosmic_study:582,cosmic_study:585,pubmed:8187092,pubmed:8293534,pubmed:8382111,pubmed:9052405,pubmed:9816225 17p13.1 17 7674200T> A null I F 96 96 missense 0.053 benign 0.35 tolerated 1 Neoplasm of brain ClinVar:RCV000418615 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519995 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10223186,pubmed:10753186,pubmed:11857392,pubmed:12648581,pubmed:15523690,pubmed:16461462,pubmed:17573896,pubmed:18948947,pubmed:21060032,pubmed:21796119,pubmed:22825745,pubmed:22980975,pubmed:23415222,pubmed:23525077,cosmic_study:341,cosmic_study:366,cosmic_study:414,cosmic_study:431,cosmic_study:464,cosmic_study:465,cosmic_study:582,cosmic_study:585,pubmed:8187092,pubmed:8293534,pubmed:8382111,pubmed:9052405,pubmed:9816225 17p13.1 17 7674200T> A null I F 96 96 missense 0.053 benign 0.35 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000428426 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519995 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10223186,pubmed:10753186,pubmed:11857392,pubmed:12648581,pubmed:15523690,pubmed:16461462,pubmed:17573896,pubmed:18948947,pubmed:21060032,pubmed:21796119,pubmed:22825745,pubmed:22980975,pubmed:23415222,pubmed:23525077,cosmic_study:341,cosmic_study:366,cosmic_study:414,cosmic_study:431,cosmic_study:464,cosmic_study:465,cosmic_study:582,cosmic_study:585,pubmed:8187092,pubmed:8293534,pubmed:8382111,pubmed:9052405,pubmed:9816225 17p13.1 17 7674200T> A null I F 96 96 missense 0.053 benign 0.35 tolerated 1 Ovarian Neoplasms ClinVar:RCV000785451 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519995 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10223186,pubmed:10753186,pubmed:11857392,pubmed:12648581,pubmed:15523690,pubmed:16461462,pubmed:17573896,pubmed:18948947,pubmed:21060032,pubmed:21796119,pubmed:22825745,pubmed:22980975,pubmed:23415222,pubmed:23525077,cosmic_study:341,cosmic_study:366,cosmic_study:414,cosmic_study:431,cosmic_study:464,cosmic_study:465,cosmic_study:582,cosmic_study:585,pubmed:8187092,pubmed:8293534,pubmed:8382111,pubmed:9052405,pubmed:9816225 17p13.1 17 7674200T> A null I F 96 96 missense 0.053 benign 0.35 tolerated 1 Pancreatic adenocarcinoma ClinVar:RCV000444896 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597364034 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7674197du p null T null 97 97 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000821100 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs876659098 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674193_7674197delinsTGGATGTCCTGACCT G null T null 97 97 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219279 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781433 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: lung pubmed:10582680,pubmed:15643509,pubmed:9649138 17p13.1 17 7674197T> C null T A 97 97 missense 0.665 possibly damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129326 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781433 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: lung pubmed:10582680,pubmed:15643509,pubmed:9649138 17p13.1 17 7674197T> C null T A 97 97 missense 0.665 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000688741 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781433 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: lung pubmed:10582680,pubmed:15643509,pubmed:9649138 17p13.1 17 7674197T> C null T A 97 97 missense 0.665 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000172827 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781433 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary pubmed:11079169 17p13.1 17 7674197T> G null T P 97 97 missense 0.998 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026685 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781433 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary pubmed:11079169 17p13.1 17 7674197T> G null T P 97 97 missense 0.998 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633389 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs28934577 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract pubmed:10564951,pubmed:12807758,pubmed:1375111,pubmed:17704924,pubmed:18772397,pubmed:22891273,cosmic_study:332,cosmic_study:376,cosmic_study:382,cosmic_study:457,pubmed:8261448,pubmed:8402617,pubmed:9262496 17p13.1 17 7674193A> G null L P 98 98 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000540536 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs28934577 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:1317262,pubmed:16821082,pubmed:21720365,pubmed:22607702,pubmed:22895193,cosmic_study:331,cosmic_study:452,cosmic_study:585,pubmed:7585578,pubmed:8134127,pubmed:8174107,pubmed:8655704,pubmed:8718514,pubmed:9212217 17p13.1 17 7674193A> T null L Q 98 98 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000469142 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs28934577 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:1317262,pubmed:16821082,pubmed:21720365,pubmed:22607702,pubmed:22895193,cosmic_study:331,cosmic_study:452,cosmic_study:585,pubmed:7585578,pubmed:8134127,pubmed:8174107,pubmed:8655704,pubmed:8718514,pubmed:9212217 17p13.1 17 7674193A> T null L Q 98 98 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs28934577 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:1317262,pubmed:16821082,pubmed:21720365,pubmed:22607702,pubmed:22895193,cosmic_study:331,cosmic_study:452,cosmic_study:585,pubmed:7585578,pubmed:8134127,pubmed:8174107,pubmed:8655704,pubmed:8718514,pubmed:9212217 17p13.1 17 7674193A> T null L Q 98 98 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni-like syndrome (LFL) ClinVar:RCV000013171 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs28934577 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:1317262,pubmed:16821082,pubmed:21720365,pubmed:22607702,pubmed:22895193,cosmic_study:331,cosmic_study:452,cosmic_study:585,pubmed:7585578,pubmed:8134127,pubmed:8174107,pubmed:8655704,pubmed:8718514,pubmed:9212217 17p13.1 17 7674193A> T null L Q 98 98 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785553 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs28934577 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:15221786 17p13.1 17 7674193A> C null L R 98 98 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130981 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs28934577 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:15221786 17p13.1 17 7674193A> C null L R 98 98 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001233712 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs779761818 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674194G> C null L V 98 98 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026723 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs779761818 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7674194G> C null L V 98 98 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001053924 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912652 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10582680,pubmed:11353048,pubmed:11595686,pubmed:12792793,pubmed:15492791,pubmed:17118779,pubmed:17259658,pubmed:17523278,pubmed:22877736,pubmed:22980975,pubmed:23103869,cosmic_study:328,cosmic_study:375,cosmic_study:414,cosmic_study:431,cosmic_study:436,cosmic_study:448,pubmed:7992847,pubmed:8398064,pubmed:9683299 17p13.1 17 7674191C> A null E * 99 99 missense 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565601 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912652 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10582680,pubmed:11353048,pubmed:11595686,pubmed:12792793,pubmed:15492791,pubmed:17118779,pubmed:17259658,pubmed:17523278,pubmed:22877736,pubmed:22980975,pubmed:23103869,cosmic_study:328,cosmic_study:375,cosmic_study:414,cosmic_study:431,cosmic_study:436,cosmic_study:448,pubmed:7992847,pubmed:8398064,pubmed:9683299 17p13.1 17 7674191C> A null E * 99 99 missense 1 Ovarian Neoplasms ClinVar:RCV000785351 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501201 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: soft_tissue, [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary pubmed:16024113,pubmed:16459017,pubmed:16818615,pubmed:17786186,pubmed:21103049,pubmed:23525077,cosmic_study:464 17p13.1 17 7674190T> G null E A 99 99 missense 0.997 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000551157 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501201 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation pubmed:10743047,pubmed:11051249,pubmed:15017592,pubmed:15523690,pubmed:15702478,pubmed:16996204,pubmed:21901162,cosmic_study:375,pubmed:8513440 17p13.1 17 7674190T> C null E G 99 99 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000459389 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912652 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:1978757 pubmed:10223186,pubmed:10637254,pubmed:10697269,pubmed:10728699,pubmed:10962443,pubmed:11229518,pubmed:11306496,pubmed:11384100,pubmed:11733360,pubmed:11801555,pubmed:12649174,pubmed:12713560,pubmed:1324794,pubmed:14688025,pubmed:14726385,pubmed:15538112,pubmed:16061860,pubmed:17704924,pubmed:18070208,pubmed:1946433,pubmed:19739123,pubmed:21264207,pubmed:21533174,pubmed:22877736,pubmed:23384396,pubmed:23774526,pubmed:23856246,cosmic_study:331,cosmic_study:448,cosmic_study:504,pubmed:7591300,pubmed:7756655,pubmed:7997263,pubmed:8033106,pubmed:8272291,pubmed:8302580,pubmed:8916968,pubmed:9434876,pubmed:9614374,pubmed:9662254,pubmed:9796697 17p13.1 17 7674191C> T null E K 99 99 missense 0.998 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772122 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912652 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:1978757 pubmed:10223186,pubmed:10637254,pubmed:10697269,pubmed:10728699,pubmed:10962443,pubmed:11229518,pubmed:11306496,pubmed:11384100,pubmed:11733360,pubmed:11801555,pubmed:12649174,pubmed:12713560,pubmed:1324794,pubmed:14688025,pubmed:14726385,pubmed:15538112,pubmed:16061860,pubmed:17704924,pubmed:18070208,pubmed:1946433,pubmed:19739123,pubmed:21264207,pubmed:21533174,pubmed:22877736,pubmed:23384396,pubmed:23774526,pubmed:23856246,cosmic_study:331,cosmic_study:448,cosmic_study:504,pubmed:7591300,pubmed:7756655,pubmed:7997263,pubmed:8033106,pubmed:8272291,pubmed:8302580,pubmed:8916968,pubmed:9434876,pubmed:9614374,pubmed:9662254,pubmed:9796697 17p13.1 17 7674191C> T null E K 99 99 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000792895 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912652 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:1978757 pubmed:10223186,pubmed:10637254,pubmed:10697269,pubmed:10728699,pubmed:10962443,pubmed:11229518,pubmed:11306496,pubmed:11384100,pubmed:11733360,pubmed:11801555,pubmed:12649174,pubmed:12713560,pubmed:1324794,pubmed:14688025,pubmed:14726385,pubmed:15538112,pubmed:16061860,pubmed:17704924,pubmed:18070208,pubmed:1946433,pubmed:19739123,pubmed:21264207,pubmed:21533174,pubmed:22877736,pubmed:23384396,pubmed:23774526,pubmed:23856246,cosmic_study:331,cosmic_study:448,cosmic_study:504,pubmed:7591300,pubmed:7756655,pubmed:7997263,pubmed:8033106,pubmed:8272291,pubmed:8302580,pubmed:8916968,pubmed:9434876,pubmed:9614374,pubmed:9662254,pubmed:9796697 17p13.1 17 7674191C> T null E K 99 99 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912652 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:1978757 pubmed:10223186,pubmed:10637254,pubmed:10697269,pubmed:10728699,pubmed:10962443,pubmed:11229518,pubmed:11306496,pubmed:11384100,pubmed:11733360,pubmed:11801555,pubmed:12649174,pubmed:12713560,pubmed:1324794,pubmed:14688025,pubmed:14726385,pubmed:15538112,pubmed:16061860,pubmed:17704924,pubmed:18070208,pubmed:1946433,pubmed:19739123,pubmed:21264207,pubmed:21533174,pubmed:22877736,pubmed:23384396,pubmed:23774526,pubmed:23856246,cosmic_study:331,cosmic_study:448,cosmic_study:504,pubmed:7591300,pubmed:7756655,pubmed:7997263,pubmed:8033106,pubmed:8272291,pubmed:8302580,pubmed:8916968,pubmed:9434876,pubmed:9614374,pubmed:9662254,pubmed:9796697 17p13.1 17 7674191C> T null E K 99 99 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013141 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912652 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: peritoneum, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:1978757 pubmed:10223186,pubmed:10637254,pubmed:10697269,pubmed:10728699,pubmed:10962443,pubmed:11229518,pubmed:11306496,pubmed:11384100,pubmed:11733360,pubmed:11801555,pubmed:12649174,pubmed:12713560,pubmed:1324794,pubmed:14688025,pubmed:14726385,pubmed:15538112,pubmed:16061860,pubmed:17704924,pubmed:18070208,pubmed:1946433,pubmed:19739123,pubmed:21264207,pubmed:21533174,pubmed:22877736,pubmed:23384396,pubmed:23774526,pubmed:23856246,cosmic_study:331,cosmic_study:448,cosmic_study:504,pubmed:7591300,pubmed:7756655,pubmed:7997263,pubmed:8033106,pubmed:8272291,pubmed:8302580,pubmed:8916968,pubmed:9434876,pubmed:9614374,pubmed:9662254,pubmed:9796697 17p13.1 17 7674191C> T null E K 99 99 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785291 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs745425759 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:14719105,pubmed:16024113,pubmed:8909247 17p13.1 17 7674187T> C null D G 100 100 missense 0.013 benign 0.42 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774788 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs745425759 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:14719105,pubmed:16024113,pubmed:8909247 17p13.1 17 7674187T> C null D G 100 100 missense 0.013 benign 0.42 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000168379 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs745425759 cosmic curated [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver pubmed:10748875,pubmed:11051241,pubmed:11704835,pubmed:1327523,pubmed:17488404,pubmed:17557246,pubmed:22493262,pubmed:23026641,cosmic_study:376,cosmic_study:382,cosmic_study:418,pubmed:8080737,pubmed:8481915,pubmed:9537247,pubmed:9622088,pubmed:9646028 17p13.1 17 7674187T> A null D V 100 100 missense 0.34 benign 0.12 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563029 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs745425759 cosmic curated [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver pubmed:10748875,pubmed:11051241,pubmed:11704835,pubmed:1327523,pubmed:17488404,pubmed:17557246,pubmed:22493262,pubmed:23026641,cosmic_study:376,cosmic_study:382,cosmic_study:418,pubmed:8080737,pubmed:8481915,pubmed:9537247,pubmed:9622088,pubmed:9646028 17p13.1 17 7674187T> A null D V 100 100 missense 0.34 benign 0.12 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663222 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567548929 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: autonomic_ganglia, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: ovary, [Cosmic]: lung pubmed:11595686,pubmed:15099937,pubmed:15376261,pubmed:15523690,pubmed:16183105,pubmed:1945416,pubmed:20668451,pubmed:21720365,pubmed:22178590,pubmed:23575477,pubmed:23788652,cosmic_study:322,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:492,cosmic_study:527,pubmed:8200007,pubmed:8481915,pubmed:8934544 17p13.1 17 7674188C> A null D Y 100 100 missense 0.81 possibly damaging 0.05 tolerated 1 Ovarian Neoplasms ClinVar:RCV000785271 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658916 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation pubmed:15305417,pubmed:16645236 17p13.1 17 7674184G> T null S Y 101 101 missense 0.321 benign 0.06 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213232 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658916 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation pubmed:15305417,pubmed:16645236 17p13.1 17 7674184G> T null S Y 101 101 missense 0.321 benign 0.06 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000701990 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786203396 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome pubmed:21288114,pubmed:23396385,cosmic_study:459 17p13.1 17 7674181C> G null S T 102 102 missense 0.003 benign 0.14 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166683 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs879253905 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673836de l null G null 103 103 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492279 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs200579969 [UniProt]: a sporadic cancer; somatic mutation 17p13.1 17 7673836C> A null G C 103 103 missense 0.346 benign 0.0 deleterious 0 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs200579969 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: stomach, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:11161397,pubmed:14670539 17p13.1 17 7673836C> T null G S 103 103 missense 0.706 possibly damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129643 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs200579969 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: stomach, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:11161397,pubmed:14670539 17p13.1 17 7673836C> T null G S 103 103 missense 0.706 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000463102 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1131691025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11358811,pubmed:11923604,pubmed:16024113,pubmed:17001163,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:23103869,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:382,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:436,cosmic_study:583,pubmed:7615358,pubmed:9030251 17p13.1 17 7673835C> A null G V 103 103 missense 0.471 possibly damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492458 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1131691025 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11358811,pubmed:11923604,pubmed:16024113,pubmed:17001163,pubmed:20668451,pubmed:21103049,pubmed:21720365,pubmed:21796119,pubmed:23103869,cosmic_study:331,cosmic_study:338,cosmic_study:366,cosmic_study:375,cosmic_study:382,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:436,cosmic_study:583,pubmed:7615358,pubmed:9030251 17p13.1 17 7673835C> A null G V 103 103 missense 0.471 possibly damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000685621 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597362423 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673833de l null N null 104 104 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000797009 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs72661119 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:11029509,pubmed:12172044 17p13.1 17 7673833T> C null N D 104 104 2.0E-4 missense 0.043 benign 0.08 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132389 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs72661119 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:11029509,pubmed:12172044 17p13.1 17 7673833T> C null N D 104 104 2.0E-4 missense 0.043 benign 0.08 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000474969 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs72661119 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:11029509,pubmed:12172044 17p13.1 17 7673833T> C null N D 104 104 2.0E-4 missense 0.043 benign 0.08 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663318 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,dbSNP,gnomAD rs72661119 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: lung pubmed:1348931 17p13.1 17 7673833T> G null N H 104 104 2.0E-4 missense 0.409 benign 0.05 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633354 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs770598448 cosmic curated [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine pubmed:16528528 17p13.1 17 7673831A> T null N K 104 104 missense 0.003 benign 0.11 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569163 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597362411 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673832T> C null N S 104 104 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001026915 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1060501194 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673830de l null L null 105 105 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000472594 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597362366 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673830G> T null L I 105 105 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000793077 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525353 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation, [Cosmic]: upper_aerodigestive_tract pubmed:10779196 17p13.1 17 7673829A> G null L P 105 105 missense 0.895 possibly damaging 0.09 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575862 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525353 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation, [Cosmic]: upper_aerodigestive_tract pubmed:10779196 17p13.1 17 7673829A> G null L P 105 105 missense 0.895 possibly damaging 0.09 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633364 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs879253942 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: small_intestine, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10753186,pubmed:11044641,pubmed:11079169,pubmed:11549832,pubmed:12093899,pubmed:12114798,pubmed:16760300,pubmed:21720365,pubmed:23026641,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:414,pubmed:8496613,pubmed:8934544 17p13.1 17 7673826A> G null L P 106 106 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564617 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs879253942 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: small_intestine, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10753186,pubmed:11044641,pubmed:11079169,pubmed:11549832,pubmed:12093899,pubmed:12114798,pubmed:16760300,pubmed:21720365,pubmed:23026641,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:414,pubmed:8496613,pubmed:8934544 17p13.1 17 7673826A> G null L P 106 106 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000554509 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs879253942 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: small_intestine, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10753186,pubmed:11044641,pubmed:11079169,pubmed:11549832,pubmed:12093899,pubmed:12114798,pubmed:16760300,pubmed:21720365,pubmed:23026641,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:414,pubmed:8496613,pubmed:8934544 17p13.1 17 7673826A> G null L P 106 106 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs879253942 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: small_intestine, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10753186,pubmed:11044641,pubmed:11079169,pubmed:11549832,pubmed:12093899,pubmed:12114798,pubmed:16760300,pubmed:21720365,pubmed:23026641,cosmic_study:323,cosmic_study:328,cosmic_study:331,cosmic_study:414,pubmed:8496613,pubmed:8934544 17p13.1 17 7673826A> G null L P 106 106 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662855 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567548223 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7673825de l null G null 107 107 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785518 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs886039855 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673812_7673824de l null G null 107 107 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000258052 A0A087WT22 TP53 Cellular tumor antigen p53 gnomAD rs1057519990 NCI-TCGA Cosmic [Cosmic]: breast, [Cosmic]: pleura, [Cosmic]: skin, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:12114798,pubmed:15221786,pubmed:16024113,pubmed:17001163,pubmed:18948947,pubmed:22810696,cosmic_study:341,cosmic_study:376,pubmed:8481915,pubmed:8548129,pubmed:9277151,pubmed:9816225 17p13.1 17 7673824C> A null G * 107 107 missense 1 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525344 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673824_7673825delinsA G null G * 107 107 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584005 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000429720 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000436020 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000430374 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000441726 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492556 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000709403 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000445061 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000423995 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000444033 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Malignant tumor of prostate MIM:176807 pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000149050 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000424505 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000433054 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000418979 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785456 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000418383 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000440516 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000434273 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000421625 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000444063 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070891,pubmed:10568819,pubmed:10607740,pubmed:10675480,pubmed:11115546,pubmed:11333292,pubmed:11353048,pubmed:11857392,pubmed:11875738,pubmed:12001123,pubmed:12404284,pubmed:12543796,pubmed:15017592,pubmed:15154647,pubmed:15523690,pubmed:15564288,pubmed:15643509,pubmed:16014569,pubmed:16059649,pubmed:16322298,pubmed:16596195,pubmed:20668451,pubmed:21512767,pubmed:21573592,pubmed:21822268,pubmed:22705117,pubmed:23103869,pubmed:23265383,pubmed:23607916,pubmed:23774526,pubmed:23856246,pubmed:23873848,pubmed:24121792,cosmic_study:328,cosmic_study:338,cosmic_study:382,cosmic_study:398,cosmic_study:414,cosmic_study:436,cosmic_study:450,cosmic_study:504,cosmic_study:557,cosmic_study:581,cosmic_study:582,cosmic_study:583,pubmed:7585578,pubmed:7591300,pubmed:7909871,pubmed:8033152,pubmed:8198984,pubmed:8272291,pubmed:8293408,pubmed:8943054,pubmed:9459157,pubmed:9460999,pubmed:9703286,pubmed:9861322,pubmed:9921983 17p13.1 17 7673823C> T null G E 107 107 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000429269 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Carcinoma of esophagus ClinVar:RCV000426755 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000435860 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Glioblastoma ClinVar:RCV000419323 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000441587 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001027017 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000803659 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000419956 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000422610 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000439191 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Neoplasm of brain ClinVar:RCV000430688 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000420436 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000421105 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425613 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000439845 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000444661 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000437000 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000432420 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> G null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000431342 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: peritoneum pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> T null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001027016 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: peritoneum pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> T null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000528667 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1057519990 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: peritoneum pubmed:10389978,pubmed:10567903,pubmed:10728699,pubmed:10735894,pubmed:11123721,pubmed:11297255,pubmed:11329143,pubmed:11376803,pubmed:11406538,pubmed:11555594,pubmed:11595686,pubmed:11753042,pubmed:11801556,pubmed:11857392,pubmed:12935924,pubmed:1327523,pubmed:15073856,pubmed:15145527,pubmed:15154647,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16052518,pubmed:16260276,pubmed:16287491,pubmed:16827139,pubmed:17683074,pubmed:18772890,pubmed:20668451,pubmed:21665242,pubmed:21720365,pubmed:22361929,pubmed:22941188,pubmed:22980975,pubmed:23700467,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:338,cosmic_study:423,cosmic_study:431,cosmic_study:473,cosmic_study:485,pubmed:8311114,pubmed:8467510,pubmed:8542583,pubmed:8934544,pubmed:9450908,pubmed:9635683 17p13.1 17 7673824C> T null G R 107 107 missense 1.0 probably damaging 0.02 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785497 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000440058 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000444283 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000422798 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000434748 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220597 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000422392 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000444359 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000445304 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000424659 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000428065 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000423426 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000439374 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000433685 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000429134 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000435298 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000434911 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs193920774 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10092071,pubmed:10568819,pubmed:10690522,pubmed:11004672,pubmed:11275993,pubmed:11406538,pubmed:12807758,pubmed:1348931,pubmed:15017592,pubmed:15305417,pubmed:16528528,pubmed:18772397,pubmed:1979160,pubmed:20972464,pubmed:21409490,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:22156295,pubmed:22941188,pubmed:22941189,pubmed:22975805,pubmed:22980975,pubmed:23415222,pubmed:23788652,pubmed:23917401,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:431,cosmic_study:441,cosmic_study:453,cosmic_study:465,cosmic_study:527,cosmic_study:552,pubmed:7812946,pubmed:8319218,pubmed:8481915,pubmed:8639789,pubmed:9052405,pubmed:9058723 17p13.1 17 7673823C> A null G V 107 107 missense 0.999 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000437591 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780075 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10070948,pubmed:10091733,cosmic_study:11,pubmed:11306511,pubmed:11590071,pubmed:11595686,pubmed:12118317,cosmic_study:13,pubmed:15161705,pubmed:15802015,pubmed:16140923,pubmed:18772397,pubmed:23788652,cosmic_study:329,cosmic_study:332,cosmic_study:34,cosmic_study:36,cosmic_study:418,cosmic_study:527,pubmed:8956789 17p13.1 17 7673820C> G null R P 108 108 missense 0.998 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492273 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587780075 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10070948,pubmed:10091733,cosmic_study:11,pubmed:11306511,pubmed:11590071,pubmed:11595686,pubmed:12118317,cosmic_study:13,pubmed:15161705,pubmed:15802015,pubmed:16140923,pubmed:18772397,pubmed:23788652,cosmic_study:329,cosmic_study:332,cosmic_study:34,cosmic_study:36,cosmic_study:418,cosmic_study:527,pubmed:8956789 17p13.1 17 7673820C> G null R P 108 108 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000691629 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780075 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11161397,pubmed:11241240,pubmed:12032228,pubmed:15693850,pubmed:15863268,pubmed:16229746,pubmed:21665242,pubmed:22286061,pubmed:23415222,cosmic_study:376,cosmic_study:465,pubmed:7906253 17p13.1 17 7673820C> T null R Q 108 108 missense 0.884 possibly damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000115737 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780075 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11161397,pubmed:11241240,pubmed:12032228,pubmed:15693850,pubmed:15863268,pubmed:16229746,pubmed:21665242,pubmed:22286061,pubmed:23415222,cosmic_study:376,cosmic_study:465,pubmed:7906253 17p13.1 17 7673820C> T null R Q 108 108 missense 0.884 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000205433 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780075 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11161397,pubmed:11241240,pubmed:12032228,pubmed:15693850,pubmed:15863268,pubmed:16229746,pubmed:21665242,pubmed:22286061,pubmed:23415222,cosmic_study:376,cosmic_study:465,pubmed:7906253 17p13.1 17 7673820C> T null R Q 108 108 missense 0.884 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs587780075 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11161397,pubmed:11241240,pubmed:12032228,pubmed:15693850,pubmed:15863268,pubmed:16229746,pubmed:21665242,pubmed:22286061,pubmed:23415222,cosmic_study:376,cosmic_study:465,pubmed:7906253 17p13.1 17 7673820C> T null R Q 108 108 missense 0.884 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662441 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Adrenocortical carcinoma, hereditary (ADCC) MIM:202300 ClinVar:RCV000763416 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Basal cell carcinoma, susceptibility to, 7 (BCC7) MIM:614740 ClinVar:RCV000763416 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Carcinoma of colon (CRC) Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. pubmed:17060676,pubmed:19042984,pubmed:20301390,pubmed:22138009,pubmed:22855150,pubmed:23012255,pubmed:23429431,pubmed:23852704,pubmed:24996433,pubmed:25006736,pubmed:25373533,ClinVar:RCV000763416 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Carcinoma of pancreas MIM:260350 pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV000763416 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Choroid plexus papilloma (CPP) MIM:260500 ClinVar:RCV000763416 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763416 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Glioma susceptibility 1 (GLM1) MIM:137800 ClinVar:RCV000763416 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000763416 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130398 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000538977 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000763416 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Lip and oral cavity carcinoma ClinVar:RCV001255676 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Nasopharyngeal carcinoma MIM:607107 ClinVar:RCV000763416 A0A087WT22 TP53 Cellular tumor antigen p53 NCI-TCGA,TOPMed,dbSNP,gnomAD rs55832599 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: liver, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: thymus pubmed:16959974 pubmed:11020858,pubmed:11275993,pubmed:11358811,pubmed:11704835,pubmed:15073856,pubmed:15802015,pubmed:16322298,pubmed:16941491,pubmed:16959974,pubmed:18772396,pubmed:21060032,pubmed:22037554,pubmed:22286061,pubmed:22832583,pubmed:22842228,pubmed:24375041,cosmic_study:323,cosmic_study:376,cosmic_study:379,cosmic_study:479,cosmic_study:511,pubmed:7572785,pubmed:7596184,pubmed:7674088,pubmed:8267380,pubmed:8302580,pubmed:8392033,pubmed:8895490 17p13.1 17 7673821G> A null R W 108 108 missense 0.999 probably damaging 0.04 deleterious 1 Osteosarcoma MIM:259500 ClinVar:RCV000763416 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597362206 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673820du p null N null 109 109 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001027071 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597362206 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673820du p null N null 109 109 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000793717 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597362182 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673818T> A null N Y 109 109 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001027082 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597362155 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673815T> G null S R 110 110 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000801729 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567548114 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7673812de l null F null 111 111 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785457 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs587781987 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673805_7673814de l null F null 111 111 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130388 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:10811497,pubmed:10830574,pubmed:11857392,pubmed:12792793,pubmed:15057748,pubmed:15305417,pubmed:15308588,pubmed:17692090,pubmed:1855226,cosmic_study:417,pubmed:8028358,pubmed:8645583,pubmed:9816225 17p13.1 17 7673811A> C null F C 111 111 missense 0.546 possibly damaging 0.03 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000424190 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:10811497,pubmed:10830574,pubmed:11857392,pubmed:12792793,pubmed:15057748,pubmed:15305417,pubmed:15308588,pubmed:17692090,pubmed:1855226,cosmic_study:417,pubmed:8028358,pubmed:8645583,pubmed:9816225 17p13.1 17 7673811A> C null F C 111 111 missense 0.546 possibly damaging 0.03 deleterious 1 Carcinoma of esophagus ClinVar:RCV000441020 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:10811497,pubmed:10830574,pubmed:11857392,pubmed:12792793,pubmed:15057748,pubmed:15305417,pubmed:15308588,pubmed:17692090,pubmed:1855226,cosmic_study:417,pubmed:8028358,pubmed:8645583,pubmed:9816225 17p13.1 17 7673811A> C null F C 111 111 missense 0.546 possibly damaging 0.03 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000422786 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:10811497,pubmed:10830574,pubmed:11857392,pubmed:12792793,pubmed:15057748,pubmed:15305417,pubmed:15308588,pubmed:17692090,pubmed:1855226,cosmic_study:417,pubmed:8028358,pubmed:8645583,pubmed:9816225 17p13.1 17 7673811A> C null F C 111 111 missense 0.546 possibly damaging 0.03 deleterious 1 Neoplasm of brain ClinVar:RCV000433925 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:10811497,pubmed:10830574,pubmed:11857392,pubmed:12792793,pubmed:15057748,pubmed:15305417,pubmed:15308588,pubmed:17692090,pubmed:1855226,cosmic_study:417,pubmed:8028358,pubmed:8645583,pubmed:9816225 17p13.1 17 7673811A> C null F C 111 111 missense 0.546 possibly damaging 0.03 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000434574 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:10811497,pubmed:10830574,pubmed:11857392,pubmed:12792793,pubmed:15057748,pubmed:15305417,pubmed:15308588,pubmed:17692090,pubmed:1855226,cosmic_study:417,pubmed:8028358,pubmed:8645583,pubmed:9816225 17p13.1 17 7673811A> C null F C 111 111 missense 0.546 possibly damaging 0.03 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000422121 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:10811497,pubmed:10830574,pubmed:11857392,pubmed:12792793,pubmed:15057748,pubmed:15305417,pubmed:15308588,pubmed:17692090,pubmed:1855226,cosmic_study:417,pubmed:8028358,pubmed:8645583,pubmed:9816225 17p13.1 17 7673811A> C null F C 111 111 missense 0.546 possibly damaging 0.03 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000443933 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:10811497,pubmed:10830574,pubmed:11857392,pubmed:12792793,pubmed:15057748,pubmed:15305417,pubmed:15308588,pubmed:17692090,pubmed:1855226,cosmic_study:417,pubmed:8028358,pubmed:8645583,pubmed:9816225 17p13.1 17 7673811A> C null F C 111 111 missense 0.546 possibly damaging 0.03 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000440467 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:12167102,cosmic_study:414,cosmic_study:418,cosmic_study:582,pubmed:8033106,pubmed:9846966 17p13.1 17 7673812A> T null F I 111 111 missense 0.266 benign 0.01 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000427865 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:12167102,cosmic_study:414,cosmic_study:418,cosmic_study:582,pubmed:8033106,pubmed:9846966 17p13.1 17 7673812A> T null F I 111 111 missense 0.266 benign 0.01 deleterious 1 Carcinoma of esophagus ClinVar:RCV000417883 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:12167102,cosmic_study:414,cosmic_study:418,cosmic_study:582,pubmed:8033106,pubmed:9846966 17p13.1 17 7673812A> T null F I 111 111 missense 0.266 benign 0.01 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000417655 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:12167102,cosmic_study:414,cosmic_study:418,cosmic_study:582,pubmed:8033106,pubmed:9846966 17p13.1 17 7673812A> T null F I 111 111 missense 0.266 benign 0.01 deleterious 1 Neoplasm of brain ClinVar:RCV000436185 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:12167102,cosmic_study:414,cosmic_study:418,cosmic_study:582,pubmed:8033106,pubmed:9846966 17p13.1 17 7673812A> T null F I 111 111 missense 0.266 benign 0.01 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000430718 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:12167102,cosmic_study:414,cosmic_study:418,cosmic_study:582,pubmed:8033106,pubmed:9846966 17p13.1 17 7673812A> T null F I 111 111 missense 0.266 benign 0.01 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785257 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:12167102,cosmic_study:414,cosmic_study:418,cosmic_study:582,pubmed:8033106,pubmed:9846966 17p13.1 17 7673812A> T null F I 111 111 missense 0.266 benign 0.01 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425994 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:12167102,cosmic_study:414,cosmic_study:418,cosmic_study:582,pubmed:8033106,pubmed:9846966 17p13.1 17 7673812A> T null F I 111 111 missense 0.266 benign 0.01 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000436003 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 cosmic curated [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:12167102,cosmic_study:414,cosmic_study:418,cosmic_study:582,pubmed:8033106,pubmed:9846966 17p13.1 17 7673812A> T null F I 111 111 missense 0.266 benign 0.01 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000418371 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519987 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10564951,pubmed:10918210,pubmed:11358811,pubmed:11494027,pubmed:11704866,pubmed:11960918,pubmed:12509970,pubmed:12796400,pubmed:14670539,pubmed:14688025,pubmed:15064998,pubmed:15523690,pubmed:15684603,pubmed:21544334,pubmed:21573592,pubmed:21720365,pubmed:22722201,cosmic_study:331,cosmic_study:385,pubmed:8033152,pubmed:8542583,pubmed:8909247,pubmed:9376195,pubmed:9512119 17p13.1 17 7673810A> C null F L 111 111 missense 0.139 benign 0.12 tolerated 1 Adenocarcinoma of stomach ClinVar:RCV000434093 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519987 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10564951,pubmed:10918210,pubmed:11358811,pubmed:11494027,pubmed:11704866,pubmed:11960918,pubmed:12509970,pubmed:12796400,pubmed:14670539,pubmed:14688025,pubmed:15064998,pubmed:15523690,pubmed:15684603,pubmed:21544334,pubmed:21573592,pubmed:21720365,pubmed:22722201,cosmic_study:331,cosmic_study:385,pubmed:8033152,pubmed:8542583,pubmed:8909247,pubmed:9376195,pubmed:9512119 17p13.1 17 7673810A> C null F L 111 111 missense 0.139 benign 0.12 tolerated 1 Carcinoma of esophagus ClinVar:RCV000426634 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519987 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10564951,pubmed:10918210,pubmed:11358811,pubmed:11494027,pubmed:11704866,pubmed:11960918,pubmed:12509970,pubmed:12796400,pubmed:14670539,pubmed:14688025,pubmed:15064998,pubmed:15523690,pubmed:15684603,pubmed:21544334,pubmed:21573592,pubmed:21720365,pubmed:22722201,cosmic_study:331,cosmic_study:385,pubmed:8033152,pubmed:8542583,pubmed:8909247,pubmed:9376195,pubmed:9512119 17p13.1 17 7673810A> C null F L 111 111 missense 0.139 benign 0.12 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000438906 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519987 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10564951,pubmed:10918210,pubmed:11358811,pubmed:11494027,pubmed:11704866,pubmed:11960918,pubmed:12509970,pubmed:12796400,pubmed:14670539,pubmed:14688025,pubmed:15064998,pubmed:15523690,pubmed:15684603,pubmed:21544334,pubmed:21573592,pubmed:21720365,pubmed:22722201,cosmic_study:331,cosmic_study:385,pubmed:8033152,pubmed:8542583,pubmed:8909247,pubmed:9376195,pubmed:9512119 17p13.1 17 7673810A> C null F L 111 111 missense 0.139 benign 0.12 tolerated 1 Neoplasm of brain ClinVar:RCV000426445 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519987 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10564951,pubmed:10918210,pubmed:11358811,pubmed:11494027,pubmed:11704866,pubmed:11960918,pubmed:12509970,pubmed:12796400,pubmed:14670539,pubmed:14688025,pubmed:15064998,pubmed:15523690,pubmed:15684603,pubmed:21544334,pubmed:21573592,pubmed:21720365,pubmed:22722201,cosmic_study:331,cosmic_study:385,pubmed:8033152,pubmed:8542583,pubmed:8909247,pubmed:9376195,pubmed:9512119 17p13.1 17 7673810A> C null F L 111 111 missense 0.139 benign 0.12 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000423824 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519987 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10564951,pubmed:10918210,pubmed:11358811,pubmed:11494027,pubmed:11704866,pubmed:11960918,pubmed:12509970,pubmed:12796400,pubmed:14670539,pubmed:14688025,pubmed:15064998,pubmed:15523690,pubmed:15684603,pubmed:21544334,pubmed:21573592,pubmed:21720365,pubmed:22722201,cosmic_study:331,cosmic_study:385,pubmed:8033152,pubmed:8542583,pubmed:8909247,pubmed:9376195,pubmed:9512119 17p13.1 17 7673810A> C null F L 111 111 missense 0.139 benign 0.12 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000432152 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519987 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10564951,pubmed:10918210,pubmed:11358811,pubmed:11494027,pubmed:11704866,pubmed:11960918,pubmed:12509970,pubmed:12796400,pubmed:14670539,pubmed:14688025,pubmed:15064998,pubmed:15523690,pubmed:15684603,pubmed:21544334,pubmed:21573592,pubmed:21720365,pubmed:22722201,cosmic_study:331,cosmic_study:385,pubmed:8033152,pubmed:8542583,pubmed:8909247,pubmed:9376195,pubmed:9512119 17p13.1 17 7673810A> C null F L 111 111 missense 0.139 benign 0.12 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000443660 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519987 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10564951,pubmed:10918210,pubmed:11358811,pubmed:11494027,pubmed:11704866,pubmed:11960918,pubmed:12509970,pubmed:12796400,pubmed:14670539,pubmed:14688025,pubmed:15064998,pubmed:15523690,pubmed:15684603,pubmed:21544334,pubmed:21573592,pubmed:21720365,pubmed:22722201,cosmic_study:331,cosmic_study:385,pubmed:8033152,pubmed:8542583,pubmed:8909247,pubmed:9376195,pubmed:9512119 17p13.1 17 7673810A> C null F L 111 111 missense 0.139 benign 0.12 tolerated 1 Squamous cell lung carcinoma ClinVar:RCV000433231 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract pubmed:10564951,pubmed:10918210,pubmed:11358811,pubmed:11494027,pubmed:11704866,pubmed:11960918,pubmed:12509970,pubmed:12796400,pubmed:14670539,pubmed:14688025,pubmed:15064998,pubmed:15523690,pubmed:15684603,pubmed:21544334,pubmed:21573592,pubmed:21720365,pubmed:22722201,cosmic_study:331,cosmic_study:385,pubmed:8033152,pubmed:8542583,pubmed:8909247,pubmed:9376195,pubmed:9512119 17p13.1 17 7673812A> G null F L 111 111 missense 0.139 benign 0.12 tolerated 1 Ovarian Neoplasms ClinVar:RCV000785520 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10070948,pubmed:11004672,pubmed:11588905,pubmed:12771990,pubmed:1483940,pubmed:18772890,pubmed:21665242,pubmed:23407552,cosmic_study:329,cosmic_study:331,cosmic_study:414,cosmic_study:473,pubmed:8569192 17p13.1 17 7673811A> G null F S 111 111 missense 0.994 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000418965 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10070948,pubmed:11004672,pubmed:11588905,pubmed:12771990,pubmed:1483940,pubmed:18772890,pubmed:21665242,pubmed:23407552,cosmic_study:329,cosmic_study:331,cosmic_study:414,cosmic_study:473,pubmed:8569192 17p13.1 17 7673811A> G null F S 111 111 missense 0.994 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000421032 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10070948,pubmed:11004672,pubmed:11588905,pubmed:12771990,pubmed:1483940,pubmed:18772890,pubmed:21665242,pubmed:23407552,cosmic_study:329,cosmic_study:331,cosmic_study:414,cosmic_study:473,pubmed:8569192 17p13.1 17 7673811A> G null F S 111 111 missense 0.994 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000824076 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10070948,pubmed:11004672,pubmed:11588905,pubmed:12771990,pubmed:1483940,pubmed:18772890,pubmed:21665242,pubmed:23407552,cosmic_study:329,cosmic_study:331,cosmic_study:414,cosmic_study:473,pubmed:8569192 17p13.1 17 7673811A> G null F S 111 111 missense 0.994 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000419602 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10070948,pubmed:11004672,pubmed:11588905,pubmed:12771990,pubmed:1483940,pubmed:18772890,pubmed:21665242,pubmed:23407552,cosmic_study:329,cosmic_study:331,cosmic_study:414,cosmic_study:473,pubmed:8569192 17p13.1 17 7673811A> G null F S 111 111 missense 0.994 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000437299 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10070948,pubmed:11004672,pubmed:11588905,pubmed:12771990,pubmed:1483940,pubmed:18772890,pubmed:21665242,pubmed:23407552,cosmic_study:329,cosmic_study:331,cosmic_study:414,cosmic_study:473,pubmed:8569192 17p13.1 17 7673811A> G null F S 111 111 missense 0.994 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000439252 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10070948,pubmed:11004672,pubmed:11588905,pubmed:12771990,pubmed:1483940,pubmed:18772890,pubmed:21665242,pubmed:23407552,cosmic_study:329,cosmic_study:331,cosmic_study:414,cosmic_study:473,pubmed:8569192 17p13.1 17 7673811A> G null F S 111 111 missense 0.994 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000429016 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10070948,pubmed:11004672,pubmed:11588905,pubmed:12771990,pubmed:1483940,pubmed:18772890,pubmed:21665242,pubmed:23407552,cosmic_study:329,cosmic_study:331,cosmic_study:414,cosmic_study:473,pubmed:8569192 17p13.1 17 7673811A> G null F S 111 111 missense 0.994 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000426140 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519986 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: pancreas, [Cosmic]: oesophagus, [ClinVar]: Neoplasm of brain, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10070948,pubmed:11004672,pubmed:11588905,pubmed:12771990,pubmed:1483940,pubmed:18772890,pubmed:21665242,pubmed:23407552,cosmic_study:329,cosmic_study:331,cosmic_study:414,cosmic_study:473,pubmed:8569192 17p13.1 17 7673811A> G null F S 111 111 missense 0.994 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000429241 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 NCI-TCGA Cosmic [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:14688025,pubmed:15564288,cosmic_study:417,pubmed:8093350,pubmed:8345605,pubmed:8731915,pubmed:9445137,pubmed:9738975 17p13.1 17 7673812A> C null F V 111 111 missense 0.265 benign 0.16 tolerated 1 Adenocarcinoma of stomach ClinVar:RCV000435460 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 NCI-TCGA Cosmic [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:14688025,pubmed:15564288,cosmic_study:417,pubmed:8093350,pubmed:8345605,pubmed:8731915,pubmed:9445137,pubmed:9738975 17p13.1 17 7673812A> C null F V 111 111 missense 0.265 benign 0.16 tolerated 1 Carcinoma of esophagus ClinVar:RCV000430671 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 NCI-TCGA Cosmic [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:14688025,pubmed:15564288,cosmic_study:417,pubmed:8093350,pubmed:8345605,pubmed:8731915,pubmed:9445137,pubmed:9738975 17p13.1 17 7673812A> C null F V 111 111 missense 0.265 benign 0.16 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001027160 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 NCI-TCGA Cosmic [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:14688025,pubmed:15564288,cosmic_study:417,pubmed:8093350,pubmed:8345605,pubmed:8731915,pubmed:9445137,pubmed:9738975 17p13.1 17 7673812A> C null F V 111 111 missense 0.265 benign 0.16 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000435260 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 NCI-TCGA Cosmic [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:14688025,pubmed:15564288,cosmic_study:417,pubmed:8093350,pubmed:8345605,pubmed:8731915,pubmed:9445137,pubmed:9738975 17p13.1 17 7673812A> C null F V 111 111 missense 0.265 benign 0.16 tolerated 1 Neoplasm of brain ClinVar:RCV000438306 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 NCI-TCGA Cosmic [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:14688025,pubmed:15564288,cosmic_study:417,pubmed:8093350,pubmed:8345605,pubmed:8731915,pubmed:9445137,pubmed:9738975 17p13.1 17 7673812A> C null F V 111 111 missense 0.265 benign 0.16 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000443210 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 NCI-TCGA Cosmic [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:14688025,pubmed:15564288,cosmic_study:417,pubmed:8093350,pubmed:8345605,pubmed:8731915,pubmed:9445137,pubmed:9738975 17p13.1 17 7673812A> C null F V 111 111 missense 0.265 benign 0.16 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000443062 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 NCI-TCGA Cosmic [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:14688025,pubmed:15564288,cosmic_study:417,pubmed:8093350,pubmed:8345605,pubmed:8731915,pubmed:9445137,pubmed:9738975 17p13.1 17 7673812A> C null F V 111 111 missense 0.265 benign 0.16 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000425855 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519988 NCI-TCGA Cosmic [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: testis, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:14688025,pubmed:15564288,cosmic_study:417,pubmed:8093350,pubmed:8345605,pubmed:8731915,pubmed:9445137,pubmed:9738975 17p13.1 17 7673812A> C null F V 111 111 missense 0.265 benign 0.16 tolerated 1 Squamous cell lung carcinoma ClinVar:RCV000420461 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525303 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673806_7673807delinsT A null E DM 112 113 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570036 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501191 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: cervix pubmed:16959974 pubmed:10621852,pubmed:11004672,pubmed:11801555,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16959974,pubmed:17962810,pubmed:18772397,pubmed:21533174,pubmed:21822268,pubmed:23525077,pubmed:23917401,pubmed:24121792,cosmic_study:329,cosmic_study:332,cosmic_study:398,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:464,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:8542583,pubmed:8546000,pubmed:8635153,pubmed:8934544,pubmed:9162193,pubmed:9568784,pubmed:9649138 17p13.1 17 7673809C> T null E K 112 112 missense 0.991 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775714 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501191 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: cervix pubmed:16959974 pubmed:10621852,pubmed:11004672,pubmed:11801555,pubmed:15499621,pubmed:15538112,pubmed:16000567,pubmed:16959974,pubmed:17962810,pubmed:18772397,pubmed:21533174,pubmed:21822268,pubmed:23525077,pubmed:23917401,pubmed:24121792,cosmic_study:329,cosmic_study:332,cosmic_study:398,cosmic_study:413,cosmic_study:417,cosmic_study:418,cosmic_study:464,cosmic_study:552,cosmic_study:557,cosmic_study:581,cosmic_study:585,pubmed:7628866,pubmed:8542583,pubmed:8546000,pubmed:8635153,pubmed:8934544,pubmed:9162193,pubmed:9568784,pubmed:9649138 17p13.1 17 7673809C> T null E K 112 112 missense 0.991 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000457572 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567548090 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673808_7673809delinsA A null E L 112 112 missense 0.993 probably damaging 0.0 deleterious 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000689318 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: soft_tissue, [Cosmic]: stomach, [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver pubmed:10874665,pubmed:15446583,pubmed:1630814,pubmed:16538442,pubmed:8372881,pubmed:8389246,pubmed:9796697 17p13.1 17 7673805A> G null V A 113 113 missense 0.995 probably damaging 0.16 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000685555 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000444340 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001228585 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000429369 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000438331 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000442953 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000427639 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000442761 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000434183 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000422825 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000421804 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000433521 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11325447,pubmed:1324794,pubmed:16024113,pubmed:1638540,pubmed:17881637,cosmic_study:583,pubmed:8631591,pubmed:9354678 17p13.1 17 7673805A> T null V E 113 113 missense 1.0 probably damaging 0.01 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000424786 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Adenocarcinoma of stomach ClinVar:RCV000420090 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220536 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000432569 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Malignant neoplasm of body of uterus ClinVar:RCV000421184 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000444129 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000427960 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000422297 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000430105 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000419845 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Pancreatic adenocarcinoma ClinVar:RCV000431226 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000439065 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876660333 NCI-TCGA Cosmic [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: pancreas, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [Cosmic]: endometrium, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15221786,pubmed:23851445,cosmic_study:328,cosmic_study:375,pubmed:7665920,pubmed:8934544,pubmed:9921983 17p13.1 17 7673805A> C null V G 113 113 missense 1.0 probably damaging 0.2 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000441467 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000417682 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164988 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001221969 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013152 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000439021 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000443570 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000437706 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000443589 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000420507 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000431193 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000432989 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000434905 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000437100 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1737852 pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:1644930,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> A null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000426429 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: stomach, [Cosmic]: endometrium, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: thyroid, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: lung pubmed:10568819,pubmed:10962443,pubmed:11044641,pubmed:11079169,pubmed:11592095,pubmed:11595686,pubmed:1312896,pubmed:1394236,pubmed:15523690,pubmed:15930341,pubmed:15956964,pubmed:17001163,pubmed:17456604,pubmed:18948947,pubmed:22484628,pubmed:22495314,pubmed:23104009,cosmic_study:328,cosmic_study:341,cosmic_study:376,cosmic_study:384,cosmic_study:449,cosmic_study:480,pubmed:8267380,pubmed:8473515,pubmed:8909247,pubmed:8934544,pubmed:9043035,pubmed:9052405,pubmed:9683299 17p13.1 17 7673806C> G null V L 113 113 missense 0.666 possibly damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000696673 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000434295 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165304 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000457645 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000436402 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000434621 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000436602 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000441086 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000443052 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000443071 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785341 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000424542 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000424351 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000418746 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912657 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10070948,pubmed:10706127,pubmed:10748875,pubmed:10753186,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11358811,pubmed:11406538,pubmed:11531258,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12001123,pubmed:12167102,pubmed:12792793,pubmed:12807758,pubmed:12972634,pubmed:15073856,pubmed:15221786,pubmed:15802015,pubmed:15956964,pubmed:16322298,pubmed:1655254,pubmed:17118779,pubmed:17410283,pubmed:17456604,pubmed:18772397,pubmed:18772890,pubmed:20668451,pubmed:20972464,pubmed:21720365,pubmed:21798897,pubmed:21822264,pubmed:21901162,pubmed:22417201,pubmed:22484628,pubmed:22675565,pubmed:22832583,pubmed:23103869,pubmed:23168708,pubmed:23700467,pubmed:24140581,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:376,cosmic_study:379,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:419,cosmic_study:425,cosmic_study:436,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:548,cosmic_study:559,cosmic_study:585,pubmed:7547235,pubmed:7585578,pubmed:7909871,pubmed:7952630,pubmed:8033152,pubmed:8198970,pubmed:8417784,pubmed:8916968,pubmed:8995554,pubmed:9052405,pubmed:9120715,pubmed:9367066,pubmed:9537240,pubmed:9649138,pubmed:9665415,pubmed:9703286,pubmed:9816225 17p13.1 17 7673806C> T null V M 113 113 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000432177 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597362004 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673805_7673808du p null R null 114 114 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000813368 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: genital_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: small_intestine, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074,pubmed:7887414,pubmed:9450901 pubmed:10029095,pubmed:10212000,pubmed:10223186,pubmed:10328221,pubmed:10408409,pubmed:10492244,pubmed:10519384,pubmed:10547570,pubmed:10564952,pubmed:10568819,pubmed:10589767,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10753204,pubmed:10754498,pubmed:10802655,pubmed:10835493,pubmed:10896202,pubmed:10918210,pubmed:10956404,pubmed:11051241,pubmed:11119125,pubmed:11141476,pubmed:11152345,pubmed:11221842,pubmed:11241240,pubmed:11275993,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11531258,pubmed:11557779,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12094379,pubmed:12114798,pubmed:12115559,pubmed:12118317,pubmed:12144684,pubmed:12176791,pubmed:12217802,pubmed:12375013,pubmed:12404284,pubmed:12483005,pubmed:12509970,pubmed:12635658,pubmed:12648581,pubmed:12744472,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12935924,pubmed:12972634,pubmed:1317262,pubmed:1346255,pubmed:1349102,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14697642,pubmed:14716513,pubmed:14976538,pubmed:1499939,pubmed:15064998,pubmed:15099937,pubmed:1516069,pubmed:15221786,pubmed:15305417,pubmed:15337798,pubmed:15363320,pubmed:15492791,pubmed:15541116,pubmed:15564288,pubmed:15643509,pubmed:15674332,pubmed:15802015,pubmed:15924253,pubmed:15943041,pubmed:15956964,pubmed:16094622,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16229746,pubmed:16459017,pubmed:16461462,pubmed:1647768,pubmed:16528528,pubmed:16818615,pubmed:16847456,pubmed:16959974,pubmed:17001163,pubmed:17031656,pubmed:17133269,pubmed:17285122,pubmed:17308273,pubmed:17319279,pubmed:1737400,pubmed:17410283,pubmed:17447881,pubmed:17456604,pubmed:17498554,pubmed:17523278,pubmed:17638058,pubmed:17849424,pubmed:17881637,pubmed:17949449,pubmed:18025850,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21070477,pubmed:21103049,pubmed:21168197,pubmed:21378543,pubmed:21380628,pubmed:21423156,pubmed:21533174,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:21955926,pubmed:22089350,pubmed:22138691,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22561520,pubmed:22609107,pubmed:22610119,pubmed:22675565,pubmed:22722201,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22817889,pubmed:22820256,pubmed:22821383,pubmed:22844452,pubmed:22895193,pubmed:22941188,pubmed:22941189,pubmed:23056620,pubmed:23104868,pubmed:23243274,pubmed:23265383,pubmed:23415222,pubmed:23525077,pubmed:23526092,pubmed:23592488,pubmed:23700467,pubmed:23907151,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24452392,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:322,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:377,cosmic_study:385,cosmic_study:391,cosmic_study:392,cosmic_study:395,cosmic_study:402,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:425,cosmic_study:444,cosmic_study:450,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7622420,pubmed:7665248,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7841033,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:7992847,pubmed:8009954,pubmed:8039163,pubmed:8082516,pubmed:8137263,pubmed:8180965,pubmed:8187092,pubmed:8198984,pubmed:8219205,pubmed:8221663,pubmed:8261444,pubmed:8272291,pubmed:8280379,pubmed:8290606,pubmed:8293408,pubmed:8302580,pubmed:8317886,pubmed:8378080,pubmed:8407553,pubmed:8481915,pubmed:8495424,pubmed:8509216,pubmed:8541549,pubmed:8569192,pubmed:8621246,pubmed:8630877,pubmed:8655704,pubmed:8690195,pubmed:8761369,pubmed:8781571,pubmed:8824725,pubmed:8826941,pubmed:8912818,pubmed:8934544,pubmed:8965097,pubmed:8995554,pubmed:9000573,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9115587,pubmed:9121123,pubmed:9258660,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9431782,pubmed:9450901,pubmed:9460999,pubmed:9485035,pubmed:9515788,pubmed:9537240,pubmed:9546366,pubmed:9626339,pubmed:9635683,pubmed:9650746,pubmed:9761125,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9886570 17p13.1 17 7673803G> A null R C 114 114 missense 0.999 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000442470 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: genital_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: small_intestine, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074,pubmed:7887414,pubmed:9450901 pubmed:10029095,pubmed:10212000,pubmed:10223186,pubmed:10328221,pubmed:10408409,pubmed:10492244,pubmed:10519384,pubmed:10547570,pubmed:10564952,pubmed:10568819,pubmed:10589767,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10753204,pubmed:10754498,pubmed:10802655,pubmed:10835493,pubmed:10896202,pubmed:10918210,pubmed:10956404,pubmed:11051241,pubmed:11119125,pubmed:11141476,pubmed:11152345,pubmed:11221842,pubmed:11241240,pubmed:11275993,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11531258,pubmed:11557779,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12094379,pubmed:12114798,pubmed:12115559,pubmed:12118317,pubmed:12144684,pubmed:12176791,pubmed:12217802,pubmed:12375013,pubmed:12404284,pubmed:12483005,pubmed:12509970,pubmed:12635658,pubmed:12648581,pubmed:12744472,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12935924,pubmed:12972634,pubmed:1317262,pubmed:1346255,pubmed:1349102,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14697642,pubmed:14716513,pubmed:14976538,pubmed:1499939,pubmed:15064998,pubmed:15099937,pubmed:1516069,pubmed:15221786,pubmed:15305417,pubmed:15337798,pubmed:15363320,pubmed:15492791,pubmed:15541116,pubmed:15564288,pubmed:15643509,pubmed:15674332,pubmed:15802015,pubmed:15924253,pubmed:15943041,pubmed:15956964,pubmed:16094622,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16229746,pubmed:16459017,pubmed:16461462,pubmed:1647768,pubmed:16528528,pubmed:16818615,pubmed:16847456,pubmed:16959974,pubmed:17001163,pubmed:17031656,pubmed:17133269,pubmed:17285122,pubmed:17308273,pubmed:17319279,pubmed:1737400,pubmed:17410283,pubmed:17447881,pubmed:17456604,pubmed:17498554,pubmed:17523278,pubmed:17638058,pubmed:17849424,pubmed:17881637,pubmed:17949449,pubmed:18025850,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21070477,pubmed:21103049,pubmed:21168197,pubmed:21378543,pubmed:21380628,pubmed:21423156,pubmed:21533174,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:21955926,pubmed:22089350,pubmed:22138691,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22561520,pubmed:22609107,pubmed:22610119,pubmed:22675565,pubmed:22722201,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22817889,pubmed:22820256,pubmed:22821383,pubmed:22844452,pubmed:22895193,pubmed:22941188,pubmed:22941189,pubmed:23056620,pubmed:23104868,pubmed:23243274,pubmed:23265383,pubmed:23415222,pubmed:23525077,pubmed:23526092,pubmed:23592488,pubmed:23700467,pubmed:23907151,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24452392,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:322,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:377,cosmic_study:385,cosmic_study:391,cosmic_study:392,cosmic_study:395,cosmic_study:402,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:425,cosmic_study:444,cosmic_study:450,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7622420,pubmed:7665248,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7841033,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:7992847,pubmed:8009954,pubmed:8039163,pubmed:8082516,pubmed:8137263,pubmed:8180965,pubmed:8187092,pubmed:8198984,pubmed:8219205,pubmed:8221663,pubmed:8261444,pubmed:8272291,pubmed:8280379,pubmed:8290606,pubmed:8293408,pubmed:8302580,pubmed:8317886,pubmed:8378080,pubmed:8407553,pubmed:8481915,pubmed:8495424,pubmed:8509216,pubmed:8541549,pubmed:8569192,pubmed:8621246,pubmed:8630877,pubmed:8655704,pubmed:8690195,pubmed:8761369,pubmed:8781571,pubmed:8824725,pubmed:8826941,pubmed:8912818,pubmed:8934544,pubmed:8965097,pubmed:8995554,pubmed:9000573,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9115587,pubmed:9121123,pubmed:9258660,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9431782,pubmed:9450901,pubmed:9460999,pubmed:9485035,pubmed:9515788,pubmed:9537240,pubmed:9546366,pubmed:9626339,pubmed:9635683,pubmed:9650746,pubmed:9761125,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9886570 17p13.1 17 7673803G> A null R C 114 114 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000432002 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: genital_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: small_intestine, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074,pubmed:7887414,pubmed:9450901 pubmed:10029095,pubmed:10212000,pubmed:10223186,pubmed:10328221,pubmed:10408409,pubmed:10492244,pubmed:10519384,pubmed:10547570,pubmed:10564952,pubmed:10568819,pubmed:10589767,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10753204,pubmed:10754498,pubmed:10802655,pubmed:10835493,pubmed:10896202,pubmed:10918210,pubmed:10956404,pubmed:11051241,pubmed:11119125,pubmed:11141476,pubmed:11152345,pubmed:11221842,pubmed:11241240,pubmed:11275993,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11531258,pubmed:11557779,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12094379,pubmed:12114798,pubmed:12115559,pubmed:12118317,pubmed:12144684,pubmed:12176791,pubmed:12217802,pubmed:12375013,pubmed:12404284,pubmed:12483005,pubmed:12509970,pubmed:12635658,pubmed:12648581,pubmed:12744472,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12935924,pubmed:12972634,pubmed:1317262,pubmed:1346255,pubmed:1349102,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14697642,pubmed:14716513,pubmed:14976538,pubmed:1499939,pubmed:15064998,pubmed:15099937,pubmed:1516069,pubmed:15221786,pubmed:15305417,pubmed:15337798,pubmed:15363320,pubmed:15492791,pubmed:15541116,pubmed:15564288,pubmed:15643509,pubmed:15674332,pubmed:15802015,pubmed:15924253,pubmed:15943041,pubmed:15956964,pubmed:16094622,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16229746,pubmed:16459017,pubmed:16461462,pubmed:1647768,pubmed:16528528,pubmed:16818615,pubmed:16847456,pubmed:16959974,pubmed:17001163,pubmed:17031656,pubmed:17133269,pubmed:17285122,pubmed:17308273,pubmed:17319279,pubmed:1737400,pubmed:17410283,pubmed:17447881,pubmed:17456604,pubmed:17498554,pubmed:17523278,pubmed:17638058,pubmed:17849424,pubmed:17881637,pubmed:17949449,pubmed:18025850,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21070477,pubmed:21103049,pubmed:21168197,pubmed:21378543,pubmed:21380628,pubmed:21423156,pubmed:21533174,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:21955926,pubmed:22089350,pubmed:22138691,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22561520,pubmed:22609107,pubmed:22610119,pubmed:22675565,pubmed:22722201,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22817889,pubmed:22820256,pubmed:22821383,pubmed:22844452,pubmed:22895193,pubmed:22941188,pubmed:22941189,pubmed:23056620,pubmed:23104868,pubmed:23243274,pubmed:23265383,pubmed:23415222,pubmed:23525077,pubmed:23526092,pubmed:23592488,pubmed:23700467,pubmed:23907151,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24452392,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:322,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:377,cosmic_study:385,cosmic_study:391,cosmic_study:392,cosmic_study:395,cosmic_study:402,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:425,cosmic_study:444,cosmic_study:450,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7622420,pubmed:7665248,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7841033,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:7992847,pubmed:8009954,pubmed:8039163,pubmed:8082516,pubmed:8137263,pubmed:8180965,pubmed:8187092,pubmed:8198984,pubmed:8219205,pubmed:8221663,pubmed:8261444,pubmed:8272291,pubmed:8280379,pubmed:8290606,pubmed:8293408,pubmed:8302580,pubmed:8317886,pubmed:8378080,pubmed:8407553,pubmed:8481915,pubmed:8495424,pubmed:8509216,pubmed:8541549,pubmed:8569192,pubmed:8621246,pubmed:8630877,pubmed:8655704,pubmed:8690195,pubmed:8761369,pubmed:8781571,pubmed:8824725,pubmed:8826941,pubmed:8912818,pubmed:8934544,pubmed:8965097,pubmed:8995554,pubmed:9000573,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9115587,pubmed:9121123,pubmed:9258660,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9431782,pubmed:9450901,pubmed:9460999,pubmed:9485035,pubmed:9515788,pubmed:9537240,pubmed:9546366,pubmed:9626339,pubmed:9635683,pubmed:9650746,pubmed:9761125,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9886570 17p13.1 17 7673803G> A null R C 114 114 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131966 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: genital_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: small_intestine, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074,pubmed:7887414,pubmed:9450901 pubmed:10029095,pubmed:10212000,pubmed:10223186,pubmed:10328221,pubmed:10408409,pubmed:10492244,pubmed:10519384,pubmed:10547570,pubmed:10564952,pubmed:10568819,pubmed:10589767,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10753204,pubmed:10754498,pubmed:10802655,pubmed:10835493,pubmed:10896202,pubmed:10918210,pubmed:10956404,pubmed:11051241,pubmed:11119125,pubmed:11141476,pubmed:11152345,pubmed:11221842,pubmed:11241240,pubmed:11275993,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11531258,pubmed:11557779,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12094379,pubmed:12114798,pubmed:12115559,pubmed:12118317,pubmed:12144684,pubmed:12176791,pubmed:12217802,pubmed:12375013,pubmed:12404284,pubmed:12483005,pubmed:12509970,pubmed:12635658,pubmed:12648581,pubmed:12744472,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12935924,pubmed:12972634,pubmed:1317262,pubmed:1346255,pubmed:1349102,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14697642,pubmed:14716513,pubmed:14976538,pubmed:1499939,pubmed:15064998,pubmed:15099937,pubmed:1516069,pubmed:15221786,pubmed:15305417,pubmed:15337798,pubmed:15363320,pubmed:15492791,pubmed:15541116,pubmed:15564288,pubmed:15643509,pubmed:15674332,pubmed:15802015,pubmed:15924253,pubmed:15943041,pubmed:15956964,pubmed:16094622,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16229746,pubmed:16459017,pubmed:16461462,pubmed:1647768,pubmed:16528528,pubmed:16818615,pubmed:16847456,pubmed:16959974,pubmed:17001163,pubmed:17031656,pubmed:17133269,pubmed:17285122,pubmed:17308273,pubmed:17319279,pubmed:1737400,pubmed:17410283,pubmed:17447881,pubmed:17456604,pubmed:17498554,pubmed:17523278,pubmed:17638058,pubmed:17849424,pubmed:17881637,pubmed:17949449,pubmed:18025850,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21070477,pubmed:21103049,pubmed:21168197,pubmed:21378543,pubmed:21380628,pubmed:21423156,pubmed:21533174,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:21955926,pubmed:22089350,pubmed:22138691,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22561520,pubmed:22609107,pubmed:22610119,pubmed:22675565,pubmed:22722201,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22817889,pubmed:22820256,pubmed:22821383,pubmed:22844452,pubmed:22895193,pubmed:22941188,pubmed:22941189,pubmed:23056620,pubmed:23104868,pubmed:23243274,pubmed:23265383,pubmed:23415222,pubmed:23525077,pubmed:23526092,pubmed:23592488,pubmed:23700467,pubmed:23907151,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24452392,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:322,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:377,cosmic_study:385,cosmic_study:391,cosmic_study:392,cosmic_study:395,cosmic_study:402,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:425,cosmic_study:444,cosmic_study:450,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7622420,pubmed:7665248,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7841033,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:7992847,pubmed:8009954,pubmed:8039163,pubmed:8082516,pubmed:8137263,pubmed:8180965,pubmed:8187092,pubmed:8198984,pubmed:8219205,pubmed:8221663,pubmed:8261444,pubmed:8272291,pubmed:8280379,pubmed:8290606,pubmed:8293408,pubmed:8302580,pubmed:8317886,pubmed:8378080,pubmed:8407553,pubmed:8481915,pubmed:8495424,pubmed:8509216,pubmed:8541549,pubmed:8569192,pubmed:8621246,pubmed:8630877,pubmed:8655704,pubmed:8690195,pubmed:8761369,pubmed:8781571,pubmed:8824725,pubmed:8826941,pubmed:8912818,pubmed:8934544,pubmed:8965097,pubmed:8995554,pubmed:9000573,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9115587,pubmed:9121123,pubmed:9258660,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9431782,pubmed:9450901,pubmed:9460999,pubmed:9485035,pubmed:9515788,pubmed:9537240,pubmed:9546366,pubmed:9626339,pubmed:9635683,pubmed:9650746,pubmed:9761125,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9886570 17p13.1 17 7673803G> A null R C 114 114 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000205625 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: genital_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: small_intestine, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074,pubmed:7887414,pubmed:9450901 pubmed:10029095,pubmed:10212000,pubmed:10223186,pubmed:10328221,pubmed:10408409,pubmed:10492244,pubmed:10519384,pubmed:10547570,pubmed:10564952,pubmed:10568819,pubmed:10589767,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10753204,pubmed:10754498,pubmed:10802655,pubmed:10835493,pubmed:10896202,pubmed:10918210,pubmed:10956404,pubmed:11051241,pubmed:11119125,pubmed:11141476,pubmed:11152345,pubmed:11221842,pubmed:11241240,pubmed:11275993,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11531258,pubmed:11557779,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12094379,pubmed:12114798,pubmed:12115559,pubmed:12118317,pubmed:12144684,pubmed:12176791,pubmed:12217802,pubmed:12375013,pubmed:12404284,pubmed:12483005,pubmed:12509970,pubmed:12635658,pubmed:12648581,pubmed:12744472,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12935924,pubmed:12972634,pubmed:1317262,pubmed:1346255,pubmed:1349102,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14697642,pubmed:14716513,pubmed:14976538,pubmed:1499939,pubmed:15064998,pubmed:15099937,pubmed:1516069,pubmed:15221786,pubmed:15305417,pubmed:15337798,pubmed:15363320,pubmed:15492791,pubmed:15541116,pubmed:15564288,pubmed:15643509,pubmed:15674332,pubmed:15802015,pubmed:15924253,pubmed:15943041,pubmed:15956964,pubmed:16094622,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16229746,pubmed:16459017,pubmed:16461462,pubmed:1647768,pubmed:16528528,pubmed:16818615,pubmed:16847456,pubmed:16959974,pubmed:17001163,pubmed:17031656,pubmed:17133269,pubmed:17285122,pubmed:17308273,pubmed:17319279,pubmed:1737400,pubmed:17410283,pubmed:17447881,pubmed:17456604,pubmed:17498554,pubmed:17523278,pubmed:17638058,pubmed:17849424,pubmed:17881637,pubmed:17949449,pubmed:18025850,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21070477,pubmed:21103049,pubmed:21168197,pubmed:21378543,pubmed:21380628,pubmed:21423156,pubmed:21533174,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:21955926,pubmed:22089350,pubmed:22138691,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22561520,pubmed:22609107,pubmed:22610119,pubmed:22675565,pubmed:22722201,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22817889,pubmed:22820256,pubmed:22821383,pubmed:22844452,pubmed:22895193,pubmed:22941188,pubmed:22941189,pubmed:23056620,pubmed:23104868,pubmed:23243274,pubmed:23265383,pubmed:23415222,pubmed:23525077,pubmed:23526092,pubmed:23592488,pubmed:23700467,pubmed:23907151,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24452392,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:322,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:377,cosmic_study:385,cosmic_study:391,cosmic_study:392,cosmic_study:395,cosmic_study:402,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:425,cosmic_study:444,cosmic_study:450,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7622420,pubmed:7665248,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7841033,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:7992847,pubmed:8009954,pubmed:8039163,pubmed:8082516,pubmed:8137263,pubmed:8180965,pubmed:8187092,pubmed:8198984,pubmed:8219205,pubmed:8221663,pubmed:8261444,pubmed:8272291,pubmed:8280379,pubmed:8290606,pubmed:8293408,pubmed:8302580,pubmed:8317886,pubmed:8378080,pubmed:8407553,pubmed:8481915,pubmed:8495424,pubmed:8509216,pubmed:8541549,pubmed:8569192,pubmed:8621246,pubmed:8630877,pubmed:8655704,pubmed:8690195,pubmed:8761369,pubmed:8781571,pubmed:8824725,pubmed:8826941,pubmed:8912818,pubmed:8934544,pubmed:8965097,pubmed:8995554,pubmed:9000573,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9115587,pubmed:9121123,pubmed:9258660,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9431782,pubmed:9450901,pubmed:9460999,pubmed:9485035,pubmed:9515788,pubmed:9537240,pubmed:9546366,pubmed:9626339,pubmed:9635683,pubmed:9650746,pubmed:9761125,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9886570 17p13.1 17 7673803G> A null R C 114 114 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: genital_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: small_intestine, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074,pubmed:7887414,pubmed:9450901 pubmed:10029095,pubmed:10212000,pubmed:10223186,pubmed:10328221,pubmed:10408409,pubmed:10492244,pubmed:10519384,pubmed:10547570,pubmed:10564952,pubmed:10568819,pubmed:10589767,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10753204,pubmed:10754498,pubmed:10802655,pubmed:10835493,pubmed:10896202,pubmed:10918210,pubmed:10956404,pubmed:11051241,pubmed:11119125,pubmed:11141476,pubmed:11152345,pubmed:11221842,pubmed:11241240,pubmed:11275993,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11531258,pubmed:11557779,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12094379,pubmed:12114798,pubmed:12115559,pubmed:12118317,pubmed:12144684,pubmed:12176791,pubmed:12217802,pubmed:12375013,pubmed:12404284,pubmed:12483005,pubmed:12509970,pubmed:12635658,pubmed:12648581,pubmed:12744472,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12935924,pubmed:12972634,pubmed:1317262,pubmed:1346255,pubmed:1349102,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14697642,pubmed:14716513,pubmed:14976538,pubmed:1499939,pubmed:15064998,pubmed:15099937,pubmed:1516069,pubmed:15221786,pubmed:15305417,pubmed:15337798,pubmed:15363320,pubmed:15492791,pubmed:15541116,pubmed:15564288,pubmed:15643509,pubmed:15674332,pubmed:15802015,pubmed:15924253,pubmed:15943041,pubmed:15956964,pubmed:16094622,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16229746,pubmed:16459017,pubmed:16461462,pubmed:1647768,pubmed:16528528,pubmed:16818615,pubmed:16847456,pubmed:16959974,pubmed:17001163,pubmed:17031656,pubmed:17133269,pubmed:17285122,pubmed:17308273,pubmed:17319279,pubmed:1737400,pubmed:17410283,pubmed:17447881,pubmed:17456604,pubmed:17498554,pubmed:17523278,pubmed:17638058,pubmed:17849424,pubmed:17881637,pubmed:17949449,pubmed:18025850,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21070477,pubmed:21103049,pubmed:21168197,pubmed:21378543,pubmed:21380628,pubmed:21423156,pubmed:21533174,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:21955926,pubmed:22089350,pubmed:22138691,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22561520,pubmed:22609107,pubmed:22610119,pubmed:22675565,pubmed:22722201,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22817889,pubmed:22820256,pubmed:22821383,pubmed:22844452,pubmed:22895193,pubmed:22941188,pubmed:22941189,pubmed:23056620,pubmed:23104868,pubmed:23243274,pubmed:23265383,pubmed:23415222,pubmed:23525077,pubmed:23526092,pubmed:23592488,pubmed:23700467,pubmed:23907151,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24452392,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:322,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:377,cosmic_study:385,cosmic_study:391,cosmic_study:392,cosmic_study:395,cosmic_study:402,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:425,cosmic_study:444,cosmic_study:450,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7622420,pubmed:7665248,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7841033,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:7992847,pubmed:8009954,pubmed:8039163,pubmed:8082516,pubmed:8137263,pubmed:8180965,pubmed:8187092,pubmed:8198984,pubmed:8219205,pubmed:8221663,pubmed:8261444,pubmed:8272291,pubmed:8280379,pubmed:8290606,pubmed:8293408,pubmed:8302580,pubmed:8317886,pubmed:8378080,pubmed:8407553,pubmed:8481915,pubmed:8495424,pubmed:8509216,pubmed:8541549,pubmed:8569192,pubmed:8621246,pubmed:8630877,pubmed:8655704,pubmed:8690195,pubmed:8761369,pubmed:8781571,pubmed:8824725,pubmed:8826941,pubmed:8912818,pubmed:8934544,pubmed:8965097,pubmed:8995554,pubmed:9000573,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9115587,pubmed:9121123,pubmed:9258660,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9431782,pubmed:9450901,pubmed:9460999,pubmed:9485035,pubmed:9515788,pubmed:9537240,pubmed:9546366,pubmed:9626339,pubmed:9635683,pubmed:9650746,pubmed:9761125,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9886570 17p13.1 17 7673803G> A null R C 114 114 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144665 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: genital_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: small_intestine, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074,pubmed:7887414,pubmed:9450901 pubmed:10029095,pubmed:10212000,pubmed:10223186,pubmed:10328221,pubmed:10408409,pubmed:10492244,pubmed:10519384,pubmed:10547570,pubmed:10564952,pubmed:10568819,pubmed:10589767,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10753204,pubmed:10754498,pubmed:10802655,pubmed:10835493,pubmed:10896202,pubmed:10918210,pubmed:10956404,pubmed:11051241,pubmed:11119125,pubmed:11141476,pubmed:11152345,pubmed:11221842,pubmed:11241240,pubmed:11275993,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11531258,pubmed:11557779,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12094379,pubmed:12114798,pubmed:12115559,pubmed:12118317,pubmed:12144684,pubmed:12176791,pubmed:12217802,pubmed:12375013,pubmed:12404284,pubmed:12483005,pubmed:12509970,pubmed:12635658,pubmed:12648581,pubmed:12744472,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12935924,pubmed:12972634,pubmed:1317262,pubmed:1346255,pubmed:1349102,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14697642,pubmed:14716513,pubmed:14976538,pubmed:1499939,pubmed:15064998,pubmed:15099937,pubmed:1516069,pubmed:15221786,pubmed:15305417,pubmed:15337798,pubmed:15363320,pubmed:15492791,pubmed:15541116,pubmed:15564288,pubmed:15643509,pubmed:15674332,pubmed:15802015,pubmed:15924253,pubmed:15943041,pubmed:15956964,pubmed:16094622,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16229746,pubmed:16459017,pubmed:16461462,pubmed:1647768,pubmed:16528528,pubmed:16818615,pubmed:16847456,pubmed:16959974,pubmed:17001163,pubmed:17031656,pubmed:17133269,pubmed:17285122,pubmed:17308273,pubmed:17319279,pubmed:1737400,pubmed:17410283,pubmed:17447881,pubmed:17456604,pubmed:17498554,pubmed:17523278,pubmed:17638058,pubmed:17849424,pubmed:17881637,pubmed:17949449,pubmed:18025850,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21070477,pubmed:21103049,pubmed:21168197,pubmed:21378543,pubmed:21380628,pubmed:21423156,pubmed:21533174,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:21955926,pubmed:22089350,pubmed:22138691,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22561520,pubmed:22609107,pubmed:22610119,pubmed:22675565,pubmed:22722201,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22817889,pubmed:22820256,pubmed:22821383,pubmed:22844452,pubmed:22895193,pubmed:22941188,pubmed:22941189,pubmed:23056620,pubmed:23104868,pubmed:23243274,pubmed:23265383,pubmed:23415222,pubmed:23525077,pubmed:23526092,pubmed:23592488,pubmed:23700467,pubmed:23907151,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24452392,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:322,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:377,cosmic_study:385,cosmic_study:391,cosmic_study:392,cosmic_study:395,cosmic_study:402,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:425,cosmic_study:444,cosmic_study:450,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7622420,pubmed:7665248,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7841033,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:7992847,pubmed:8009954,pubmed:8039163,pubmed:8082516,pubmed:8137263,pubmed:8180965,pubmed:8187092,pubmed:8198984,pubmed:8219205,pubmed:8221663,pubmed:8261444,pubmed:8272291,pubmed:8280379,pubmed:8290606,pubmed:8293408,pubmed:8302580,pubmed:8317886,pubmed:8378080,pubmed:8407553,pubmed:8481915,pubmed:8495424,pubmed:8509216,pubmed:8541549,pubmed:8569192,pubmed:8621246,pubmed:8630877,pubmed:8655704,pubmed:8690195,pubmed:8761369,pubmed:8781571,pubmed:8824725,pubmed:8826941,pubmed:8912818,pubmed:8934544,pubmed:8965097,pubmed:8995554,pubmed:9000573,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9115587,pubmed:9121123,pubmed:9258660,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9431782,pubmed:9450901,pubmed:9460999,pubmed:9485035,pubmed:9515788,pubmed:9537240,pubmed:9546366,pubmed:9626339,pubmed:9635683,pubmed:9650746,pubmed:9761125,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9886570 17p13.1 17 7673803G> A null R C 114 114 missense 0.999 probably damaging 0.0 deleterious 1 Malignant tumor of prostate MIM:176807 pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000149051 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: genital_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: small_intestine, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074,pubmed:7887414,pubmed:9450901 pubmed:10029095,pubmed:10212000,pubmed:10223186,pubmed:10328221,pubmed:10408409,pubmed:10492244,pubmed:10519384,pubmed:10547570,pubmed:10564952,pubmed:10568819,pubmed:10589767,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10753204,pubmed:10754498,pubmed:10802655,pubmed:10835493,pubmed:10896202,pubmed:10918210,pubmed:10956404,pubmed:11051241,pubmed:11119125,pubmed:11141476,pubmed:11152345,pubmed:11221842,pubmed:11241240,pubmed:11275993,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11531258,pubmed:11557779,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12094379,pubmed:12114798,pubmed:12115559,pubmed:12118317,pubmed:12144684,pubmed:12176791,pubmed:12217802,pubmed:12375013,pubmed:12404284,pubmed:12483005,pubmed:12509970,pubmed:12635658,pubmed:12648581,pubmed:12744472,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12935924,pubmed:12972634,pubmed:1317262,pubmed:1346255,pubmed:1349102,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14697642,pubmed:14716513,pubmed:14976538,pubmed:1499939,pubmed:15064998,pubmed:15099937,pubmed:1516069,pubmed:15221786,pubmed:15305417,pubmed:15337798,pubmed:15363320,pubmed:15492791,pubmed:15541116,pubmed:15564288,pubmed:15643509,pubmed:15674332,pubmed:15802015,pubmed:15924253,pubmed:15943041,pubmed:15956964,pubmed:16094622,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16229746,pubmed:16459017,pubmed:16461462,pubmed:1647768,pubmed:16528528,pubmed:16818615,pubmed:16847456,pubmed:16959974,pubmed:17001163,pubmed:17031656,pubmed:17133269,pubmed:17285122,pubmed:17308273,pubmed:17319279,pubmed:1737400,pubmed:17410283,pubmed:17447881,pubmed:17456604,pubmed:17498554,pubmed:17523278,pubmed:17638058,pubmed:17849424,pubmed:17881637,pubmed:17949449,pubmed:18025850,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21070477,pubmed:21103049,pubmed:21168197,pubmed:21378543,pubmed:21380628,pubmed:21423156,pubmed:21533174,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:21955926,pubmed:22089350,pubmed:22138691,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22561520,pubmed:22609107,pubmed:22610119,pubmed:22675565,pubmed:22722201,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22817889,pubmed:22820256,pubmed:22821383,pubmed:22844452,pubmed:22895193,pubmed:22941188,pubmed:22941189,pubmed:23056620,pubmed:23104868,pubmed:23243274,pubmed:23265383,pubmed:23415222,pubmed:23525077,pubmed:23526092,pubmed:23592488,pubmed:23700467,pubmed:23907151,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24452392,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:322,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:377,cosmic_study:385,cosmic_study:391,cosmic_study:392,cosmic_study:395,cosmic_study:402,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:425,cosmic_study:444,cosmic_study:450,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7622420,pubmed:7665248,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7841033,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:7992847,pubmed:8009954,pubmed:8039163,pubmed:8082516,pubmed:8137263,pubmed:8180965,pubmed:8187092,pubmed:8198984,pubmed:8219205,pubmed:8221663,pubmed:8261444,pubmed:8272291,pubmed:8280379,pubmed:8290606,pubmed:8293408,pubmed:8302580,pubmed:8317886,pubmed:8378080,pubmed:8407553,pubmed:8481915,pubmed:8495424,pubmed:8509216,pubmed:8541549,pubmed:8569192,pubmed:8621246,pubmed:8630877,pubmed:8655704,pubmed:8690195,pubmed:8761369,pubmed:8781571,pubmed:8824725,pubmed:8826941,pubmed:8912818,pubmed:8934544,pubmed:8965097,pubmed:8995554,pubmed:9000573,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9115587,pubmed:9121123,pubmed:9258660,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9431782,pubmed:9450901,pubmed:9460999,pubmed:9485035,pubmed:9515788,pubmed:9537240,pubmed:9546366,pubmed:9626339,pubmed:9635683,pubmed:9650746,pubmed:9761125,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9886570 17p13.1 17 7673803G> A null R C 114 114 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm pubmed:22918138,pubmed:23619274,ClinVar:RCV000431786 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: genital_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: small_intestine, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074,pubmed:7887414,pubmed:9450901 pubmed:10029095,pubmed:10212000,pubmed:10223186,pubmed:10328221,pubmed:10408409,pubmed:10492244,pubmed:10519384,pubmed:10547570,pubmed:10564952,pubmed:10568819,pubmed:10589767,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10753204,pubmed:10754498,pubmed:10802655,pubmed:10835493,pubmed:10896202,pubmed:10918210,pubmed:10956404,pubmed:11051241,pubmed:11119125,pubmed:11141476,pubmed:11152345,pubmed:11221842,pubmed:11241240,pubmed:11275993,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11531258,pubmed:11557779,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12094379,pubmed:12114798,pubmed:12115559,pubmed:12118317,pubmed:12144684,pubmed:12176791,pubmed:12217802,pubmed:12375013,pubmed:12404284,pubmed:12483005,pubmed:12509970,pubmed:12635658,pubmed:12648581,pubmed:12744472,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12935924,pubmed:12972634,pubmed:1317262,pubmed:1346255,pubmed:1349102,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14697642,pubmed:14716513,pubmed:14976538,pubmed:1499939,pubmed:15064998,pubmed:15099937,pubmed:1516069,pubmed:15221786,pubmed:15305417,pubmed:15337798,pubmed:15363320,pubmed:15492791,pubmed:15541116,pubmed:15564288,pubmed:15643509,pubmed:15674332,pubmed:15802015,pubmed:15924253,pubmed:15943041,pubmed:15956964,pubmed:16094622,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16229746,pubmed:16459017,pubmed:16461462,pubmed:1647768,pubmed:16528528,pubmed:16818615,pubmed:16847456,pubmed:16959974,pubmed:17001163,pubmed:17031656,pubmed:17133269,pubmed:17285122,pubmed:17308273,pubmed:17319279,pubmed:1737400,pubmed:17410283,pubmed:17447881,pubmed:17456604,pubmed:17498554,pubmed:17523278,pubmed:17638058,pubmed:17849424,pubmed:17881637,pubmed:17949449,pubmed:18025850,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21070477,pubmed:21103049,pubmed:21168197,pubmed:21378543,pubmed:21380628,pubmed:21423156,pubmed:21533174,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:21955926,pubmed:22089350,pubmed:22138691,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22561520,pubmed:22609107,pubmed:22610119,pubmed:22675565,pubmed:22722201,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22817889,pubmed:22820256,pubmed:22821383,pubmed:22844452,pubmed:22895193,pubmed:22941188,pubmed:22941189,pubmed:23056620,pubmed:23104868,pubmed:23243274,pubmed:23265383,pubmed:23415222,pubmed:23525077,pubmed:23526092,pubmed:23592488,pubmed:23700467,pubmed:23907151,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24452392,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:322,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:377,cosmic_study:385,cosmic_study:391,cosmic_study:392,cosmic_study:395,cosmic_study:402,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:425,cosmic_study:444,cosmic_study:450,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7622420,pubmed:7665248,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7841033,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:7992847,pubmed:8009954,pubmed:8039163,pubmed:8082516,pubmed:8137263,pubmed:8180965,pubmed:8187092,pubmed:8198984,pubmed:8219205,pubmed:8221663,pubmed:8261444,pubmed:8272291,pubmed:8280379,pubmed:8290606,pubmed:8293408,pubmed:8302580,pubmed:8317886,pubmed:8378080,pubmed:8407553,pubmed:8481915,pubmed:8495424,pubmed:8509216,pubmed:8541549,pubmed:8569192,pubmed:8621246,pubmed:8630877,pubmed:8655704,pubmed:8690195,pubmed:8761369,pubmed:8781571,pubmed:8824725,pubmed:8826941,pubmed:8912818,pubmed:8934544,pubmed:8965097,pubmed:8995554,pubmed:9000573,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9115587,pubmed:9121123,pubmed:9258660,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9431782,pubmed:9450901,pubmed:9460999,pubmed:9485035,pubmed:9515788,pubmed:9537240,pubmed:9546366,pubmed:9626339,pubmed:9635683,pubmed:9650746,pubmed:9761125,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9886570 17p13.1 17 7673803G> A null R C 114 114 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000421090 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Malignant tumor of prostate, [Cosmic]: ovary, [ClinVar]: Neoplasm, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: cervix, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: genital_tract, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: penis, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: vulva, [Cosmic]: small_intestine, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:16959974,pubmed:17224074,pubmed:7887414,pubmed:9450901 pubmed:10029095,pubmed:10212000,pubmed:10223186,pubmed:10328221,pubmed:10408409,pubmed:10492244,pubmed:10519384,pubmed:10547570,pubmed:10564952,pubmed:10568819,pubmed:10589767,pubmed:10735894,pubmed:10748875,pubmed:10753186,pubmed:10753204,pubmed:10754498,pubmed:10802655,pubmed:10835493,pubmed:10896202,pubmed:10918210,pubmed:10956404,pubmed:11051241,pubmed:11119125,pubmed:11141476,pubmed:11152345,pubmed:11221842,pubmed:11241240,pubmed:11275993,pubmed:11306496,pubmed:11325447,pubmed:11329143,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11531258,pubmed:11557779,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11776043,pubmed:11801555,pubmed:11801556,pubmed:11801559,pubmed:11896204,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11981662,pubmed:12032228,pubmed:12093899,pubmed:12094379,pubmed:12114798,pubmed:12115559,pubmed:12118317,pubmed:12144684,pubmed:12176791,pubmed:12217802,pubmed:12375013,pubmed:12404284,pubmed:12483005,pubmed:12509970,pubmed:12635658,pubmed:12648581,pubmed:12744472,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12807758,pubmed:12935924,pubmed:12972634,pubmed:1317262,pubmed:1346255,pubmed:1349102,pubmed:14641293,pubmed:14687797,pubmed:14688025,pubmed:14697642,pubmed:14716513,pubmed:14976538,pubmed:1499939,pubmed:15064998,pubmed:15099937,pubmed:1516069,pubmed:15221786,pubmed:15305417,pubmed:15337798,pubmed:15363320,pubmed:15492791,pubmed:15541116,pubmed:15564288,pubmed:15643509,pubmed:15674332,pubmed:15802015,pubmed:15924253,pubmed:15943041,pubmed:15956964,pubmed:16094622,pubmed:16151725,pubmed:1617650,pubmed:16183105,pubmed:16229746,pubmed:16459017,pubmed:16461462,pubmed:1647768,pubmed:16528528,pubmed:16818615,pubmed:16847456,pubmed:16959974,pubmed:17001163,pubmed:17031656,pubmed:17133269,pubmed:17285122,pubmed:17308273,pubmed:17319279,pubmed:1737400,pubmed:17410283,pubmed:17447881,pubmed:17456604,pubmed:17498554,pubmed:17523278,pubmed:17638058,pubmed:17849424,pubmed:17881637,pubmed:17949449,pubmed:18025850,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:20404136,pubmed:20668451,pubmed:20823136,pubmed:21060032,pubmed:21070477,pubmed:21103049,pubmed:21168197,pubmed:21378543,pubmed:21380628,pubmed:21423156,pubmed:21533174,pubmed:21573561,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:21955926,pubmed:22089350,pubmed:22138691,pubmed:22178590,pubmed:22286061,pubmed:22484628,pubmed:22493262,pubmed:22561520,pubmed:22609107,pubmed:22610119,pubmed:22675565,pubmed:22722201,pubmed:22722839,pubmed:22723903,pubmed:22810696,pubmed:22817889,pubmed:22820256,pubmed:22821383,pubmed:22844452,pubmed:22895193,pubmed:22941188,pubmed:22941189,pubmed:23056620,pubmed:23104868,pubmed:23243274,pubmed:23265383,pubmed:23415222,pubmed:23525077,pubmed:23526092,pubmed:23592488,pubmed:23700467,pubmed:23907151,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24423316,pubmed:24452392,pubmed:24667986,pubmed:24797764,pubmed:24936796,cosmic_study:322,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:377,cosmic_study:385,cosmic_study:391,cosmic_study:392,cosmic_study:395,cosmic_study:402,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:423,cosmic_study:424,cosmic_study:425,cosmic_study:444,cosmic_study:450,cosmic_study:452,cosmic_study:454,cosmic_study:464,cosmic_study:465,cosmic_study:472,cosmic_study:473,cosmic_study:480,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:563,cosmic_study:582,cosmic_study:583,pubmed:7547235,pubmed:7585578,pubmed:7598762,pubmed:7606196,pubmed:7622420,pubmed:7665248,pubmed:7723391,pubmed:7767983,pubmed:7767998,pubmed:7841033,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:7992847,pubmed:8009954,pubmed:8039163,pubmed:8082516,pubmed:8137263,pubmed:8180965,pubmed:8187092,pubmed:8198984,pubmed:8219205,pubmed:8221663,pubmed:8261444,pubmed:8272291,pubmed:8280379,pubmed:8290606,pubmed:8293408,pubmed:8302580,pubmed:8317886,pubmed:8378080,pubmed:8407553,pubmed:8481915,pubmed:8495424,pubmed:8509216,pubmed:8541549,pubmed:8569192,pubmed:8621246,pubmed:8630877,pubmed:8655704,pubmed:8690195,pubmed:8761369,pubmed:8781571,pubmed:8824725,pubmed:8826941,pubmed:8912818,pubmed:8934544,pubmed:8965097,pubmed:8995554,pubmed:9000573,pubmed:9036877,pubmed:9052405,pubmed:9056896,pubmed:9115587,pubmed:9121123,pubmed:9258660,pubmed:9284834,pubmed:9354678,pubmed:9367066,pubmed:9431782,pubmed:9450901,pubmed:9460999,pubmed:9485035,pubmed:9515788,pubmed:9537240,pubmed:9546366,pubmed:9626339,pubmed:9635683,pubmed:9650746,pubmed:9761125,pubmed:9807634,pubmed:9816045,pubmed:9823556,pubmed:9886570 17p13.1 17 7673803G> A null R C 114 114 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785470 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pancreas, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:11358811,pubmed:11595686,pubmed:12167102,pubmed:15161705,pubmed:18025850,pubmed:18772397,pubmed:24325359,cosmic_study:332,cosmic_study:562,pubmed:8402617,pubmed:9886570 17p13.1 17 7673803G> C null R G 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001027249 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pancreas, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:11358811,pubmed:11595686,pubmed:12167102,pubmed:15161705,pubmed:18025850,pubmed:18772397,pubmed:24325359,cosmic_study:332,cosmic_study:562,pubmed:8402617,pubmed:9886570 17p13.1 17 7673803G> C null R G 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000814073 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: pancreas, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract pubmed:11358811,pubmed:11595686,pubmed:12167102,pubmed:15161705,pubmed:18025850,pubmed:18772397,pubmed:24325359,cosmic_study:332,cosmic_study:562,pubmed:8402617,pubmed:9886570 17p13.1 17 7673803G> C null R G 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785275 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000440815 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Adenocarcinoma of prostate ClinVar:RCV000422733 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Adenocarcinoma of stomach ClinVar:RCV000419960 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Adrenocortical carcinoma ClinVar:RCV000424627 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Adrenocortical carcinoma, hereditary (ADCC) MIM:202300 ClinVar:RCV000515210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Basal cell carcinoma, susceptibility to, 7 (BCC7) MIM:614740 ClinVar:RCV000515210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Carcinoma of colon (CRC) Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. pubmed:17060676,pubmed:19042984,pubmed:20301390,pubmed:22138009,pubmed:22855150,pubmed:23012255,pubmed:23429431,pubmed:23852704,pubmed:24996433,pubmed:25006736,pubmed:25373533,ClinVar:RCV000515210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Carcinoma of esophagus ClinVar:RCV000435547 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Carcinoma of pancreas MIM:260350 pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV000515210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Choroid plexus papilloma (CPP) MIM:260500 ClinVar:RCV000515210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000424109 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000515210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Glioblastoma ClinVar:RCV000436207 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Glioma susceptibility 1 (GLM1) MIM:137800 ClinVar:RCV000515210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000444851,ClinVar:RCV000515210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000115738 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000463420 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013163,ClinVar:RCV000515210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000431361 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000433409 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Malignant neoplasm of body of uterus ClinVar:RCV000430161 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000440474 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000424833 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Nasopharyngeal carcinoma MIM:607107 ClinVar:RCV000515210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Neoplasm pubmed:22918138,pubmed:23619274,ClinVar:RCV000441169 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Neoplasm of brain ClinVar:RCV000424218 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000443907 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000444900 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Osteosarcoma MIM:259500 ClinVar:RCV000515210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Ovarian Neoplasms ClinVar:RCV000785345 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000428779 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Pancreatic adenocarcinoma ClinVar:RCV000439513 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Small cell lung cancer MIM:182280 ClinVar:RCV000437210 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000422097 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Squamous cell lung carcinoma ClinVar:RCV000418930 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Thyroid gland undifferentiated (anaplastic) carcinoma ClinVar:RCV000013164 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [Cosmic]: genital_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: penis, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: vulva, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [Cosmic]: thymus, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Thyroid gland undifferentiated (anaplastic) carcinoma, [Cosmic]: oesophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation, [ClinVar]: Neoplasm, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: fallopian_tube, [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10570149,pubmed:1394225,pubmed:1565144,pubmed:16959974,pubmed:1699228,pubmed:1868473,pubmed:20385133,pubmed:7682763 pubmed:10029095,pubmed:10089975,pubmed:10212000,pubmed:10223186,pubmed:10348818,pubmed:10391558,pubmed:10408409,pubmed:10427138,pubmed:10492244,pubmed:10519384,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10671690,pubmed:10690522,pubmed:10699891,pubmed:10706127,pubmed:10735894,pubmed:10738270,pubmed:10780666,pubmed:10802655,pubmed:10811497,pubmed:10830574,pubmed:10850436,pubmed:10918210,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11051241,pubmed:11079169,pubmed:11221842,pubmed:11229518,pubmed:11230707,pubmed:11244334,pubmed:11275993,pubmed:11297255,pubmed:11306496,pubmed:11306511,pubmed:11309337,pubmed:11329143,pubmed:11333292,pubmed:11336244,pubmed:11358811,pubmed:11389059,pubmed:11390535,pubmed:11406538,pubmed:11494027,pubmed:11595686,pubmed:11704866,pubmed:11801556,pubmed:11801559,pubmed:11857392,pubmed:11895856,pubmed:11923604,pubmed:11929815,pubmed:11932899,pubmed:11948487,pubmed:12093899,pubmed:12115559,pubmed:12118317,pubmed:12203794,pubmed:12211048,pubmed:12457032,pubmed:12509970,pubmed:12649174,pubmed:12771990,pubmed:12792793,pubmed:12796400,pubmed:12824925,pubmed:12870229,pubmed:12972634,pubmed:1312896,pubmed:1333465,pubmed:1390233,pubmed:14551737,pubmed:14618621,pubmed:14641293,pubmed:14688025,pubmed:14697642,pubmed:14726385,pubmed:15017592,pubmed:15039212,pubmed:15057748,pubmed:15064998,pubmed:15099937,pubmed:15138567,pubmed:15161705,pubmed:15167009,pubmed:15221786,pubmed:15251969,pubmed:15257941,pubmed:15308588,pubmed:15492791,pubmed:15499621,pubmed:15523690,pubmed:15538112,pubmed:15564288,pubmed:15643509,pubmed:1565144,pubmed:15674332,pubmed:15702478,pubmed:15778432,pubmed:15802015,pubmed:15915369,pubmed:15930341,pubmed:15956964,pubmed:16007576,pubmed:16061860,pubmed:1630814,pubmed:16322298,pubmed:16421478,pubmed:16459017,pubmed:16461462,pubmed:16528528,pubmed:16696020,pubmed:16818615,pubmed:16818855,pubmed:16890317,pubmed:16959974,pubmed:16996204,pubmed:17079356,pubmed:1730092,pubmed:1736012,pubmed:17388661,pubmed:17447881,pubmed:17456604,pubmed:17523278,pubmed:17557246,pubmed:17683074,pubmed:17692090,pubmed:17704924,pubmed:17849424,pubmed:17982662,pubmed:1868473,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:1979160,pubmed:21060032,pubmed:21103049,pubmed:21168197,pubmed:21275969,pubmed:21380628,pubmed:21423156,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21665242,pubmed:21720365,pubmed:21726664,pubmed:21798897,pubmed:21822264,pubmed:22089350,pubmed:22163003,pubmed:22261808,pubmed:22286061,pubmed:22361929,pubmed:22495314,pubmed:22561520,pubmed:22810696,pubmed:22820643,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22891273,pubmed:22895193,pubmed:22980975,pubmed:23033341,pubmed:23056620,pubmed:23091298,pubmed:23103869,pubmed:23204322,pubmed:23243274,pubmed:23415222,pubmed:23525077,pubmed:23619168,pubmed:23700467,pubmed:23852799,pubmed:23917401,pubmed:23960188,pubmed:24140581,pubmed:24375041,pubmed:24936796,pubmed:24942490,pubmed:31882575,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:375,cosmic_study:376,cosmic_study:382,cosmic_study:384,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:436,cosmic_study:440,cosmic_study:442,cosmic_study:448,cosmic_study:452,cosmic_study:456,cosmic_study:457,cosmic_study:464,cosmic_study:465,cosmic_study:473,cosmic_study:485,cosmic_study:498,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:582,cosmic_study:583,cosmic_study:585,pubmed:7598762,pubmed:7606196,pubmed:7614480,pubmed:7622420,pubmed:7628866,pubmed:7651727,pubmed:7712430,pubmed:7730141,pubmed:7852189,pubmed:7909871,pubmed:7928628,pubmed:7952630,pubmed:8020137,pubmed:8033087,pubmed:8033152,pubmed:8062274,pubmed:8082516,pubmed:8102535,pubmed:8118603,pubmed:8119770,pubmed:8137263,pubmed:8137272,pubmed:8142008,pubmed:8162251,pubmed:8194706,pubmed:8240361,pubmed:8261448,pubmed:8267380,pubmed:8272291,pubmed:8287224,pubmed:8319218,pubmed:8378080,pubmed:8392033,pubmed:8397797,pubmed:8423216,pubmed:8467510,pubmed:8495424,pubmed:8605352,pubmed:8630996,pubmed:8697986,pubmed:8826941,pubmed:8866234,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:8940997,pubmed:8943054,pubmed:8965097,pubmed:8995554,pubmed:9036877,pubmed:9043035,pubmed:9052405,pubmed:9113074,pubmed:9115587,pubmed:9120719,pubmed:9212217,pubmed:9247629,pubmed:9264274,pubmed:9269965,pubmed:9284834,pubmed:9460999,pubmed:9470817,pubmed:9516924,pubmed:9537247,pubmed:9546366,pubmed:9554525,pubmed:9626339,pubmed:9655287,pubmed:9665415,pubmed:9703286,pubmed:9788444,pubmed:9815649,pubmed:9816225,pubmed:9823556,pubmed:9846966,pubmed:9886570 17p13.1 17 7673802C> T null R H 114 114 2.0E-4 missense 0.993 probably damaging 0.09 tolerated 1 Uterine Carcinosarcoma ClinVar:RCV000423826 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000433315 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000431067 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000437048 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000426132 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000434296 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000423490 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000444989 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000434695 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568814 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000822080 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000423981 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000427314 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000429444 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000425890 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Metastatic pancreatic neuroendocrine tumours ClinVar:RCV000515526 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000436818 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000418738 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000438507 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000423633 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785524 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000444109 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000418536 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000435767 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000421259 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000442241 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [ClinVar]: Metastatic pancreatic neuroendocrine tumours, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10091733,pubmed:10519384,pubmed:10735894,pubmed:10753186,pubmed:10999741,cosmic_study:11,pubmed:11317955,pubmed:11389059,pubmed:11595686,pubmed:11801555,cosmic_study:13,pubmed:1324794,pubmed:1327523,pubmed:1499939,pubmed:15126338,pubmed:15161705,pubmed:15564288,pubmed:15702478,pubmed:16000567,pubmed:16140923,pubmed:16271749,pubmed:16322298,pubmed:16459017,pubmed:16959974,pubmed:17001163,pubmed:17456604,pubmed:17473653,pubmed:18948947,pubmed:1979160,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:22037554,pubmed:22941188,pubmed:22980975,pubmed:23033341,cosmic_study:331,cosmic_study:34,cosmic_study:341,cosmic_study:35,cosmic_study:36,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:431,cosmic_study:456,cosmic_study:479,cosmic_study:585,pubmed:7549812,pubmed:7606196,pubmed:7615358,pubmed:7620944,pubmed:7707106,pubmed:7756655,pubmed:7768632,pubmed:7896446,pubmed:7957118,pubmed:8108145,pubmed:8496613,pubmed:8542583,pubmed:8569192,pubmed:8617082,pubmed:8697989,pubmed:8826941,pubmed:8934544,pubmed:8956789,pubmed:9000573,pubmed:9516924,pubmed:9635831,pubmed:9655287,pubmed:9699537,pubmed:9738975,pubmed:9846966,pubmed:9851256 17p13.1 17 7673802C> A null R L 114 114 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000441792 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000439039 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000426712 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000431744 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000419080 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000431835 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000439246 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000442511 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000434099 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222860 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000553607 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000444938 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000419898 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000426561 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000427811 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000418732 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000420123 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000427328 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000437116 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785460 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000429654 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000419328 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000437377 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000421059 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000440313 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28934576 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [Cosmic]: cervix, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10753204,pubmed:10802655,pubmed:11023067,pubmed:11704835,pubmed:11929815,pubmed:12935924,pubmed:15523690,pubmed:16459017,pubmed:17609875,pubmed:17881637,pubmed:1979160,pubmed:20972464,pubmed:21720365,pubmed:22286061,pubmed:22361929,pubmed:22722201,pubmed:22980975,cosmic_study:331,cosmic_study:385,cosmic_study:414,cosmic_study:418,cosmic_study:431,pubmed:7767998,pubmed:7829392,pubmed:7992847,pubmed:8311114,pubmed:8639789,pubmed:8934544,pubmed:9185695,pubmed:9815858,pubmed:9823556 17p13.1 17 7673802C> G null R P 114 114 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000429434 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000444595 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000435480 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000440794 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000435074 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000432372 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000422550 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000420280 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000424918 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561782 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000698744 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000418085 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000427884 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000422795 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Medulloblastoma (MDB) MIM:155255 ClinVar:RCV000427515 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000433489 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000425669 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000445287 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000439774 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000420482 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000436543 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000431455 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000431180 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000438218 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121913343 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Medulloblastoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10738270,pubmed:11406538,pubmed:12447671,pubmed:15017592,pubmed:16229746,pubmed:17124412,pubmed:17266182,pubmed:21665242,pubmed:22891273,cosmic_study:413,cosmic_study:419,cosmic_study:457,cosmic_study:583,pubmed:7767998,pubmed:8407553,pubmed:9120719 17p13.1 17 7673803G> T null R S 114 114 missense 0.997 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000440997 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567547933 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673799AC[1 ] null V null 115 115 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000697629 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000426772 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000438006 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000426067 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001056029 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000432482 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000420150 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000433292 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000444136 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000427353 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000421817 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000443517 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10802655,pubmed:10962443,pubmed:11406645,pubmed:11704866,pubmed:15221786,pubmed:15702478,pubmed:16847456,pubmed:18772397,pubmed:21103049,pubmed:21822264,pubmed:22037554,pubmed:22634756,pubmed:22817889,pubmed:22941189,cosmic_study:322,cosmic_study:332,cosmic_study:352,cosmic_study:376,cosmic_study:403,cosmic_study:424,cosmic_study:444,cosmic_study:479,pubmed:8102535,pubmed:8565124,pubmed:8621246 17p13.1 17 7673799A> G null V A 115 115 missense 0.72 possibly damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000437438 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000434236 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000424885 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000432106 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001229449 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000441480 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000419239 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000424200 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000443016 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000431443 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000436477 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000443884 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:15376261,pubmed:15538112,pubmed:16322298,pubmed:21720365,pubmed:22037554,pubmed:22722201,cosmic_study:331,cosmic_study:376,cosmic_study:385,cosmic_study:479,pubmed:8541549,pubmed:8579126,pubmed:8934544 17p13.1 17 7673799A> T null V D 115 115 missense 0.989 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000425563 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000435470 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000430114 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000423526 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Lip and oral cavity carcinoma ClinVar:RCV001255677 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000428932 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000429450 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Neoplasm of brain ClinVar:RCV000440120 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000440773 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000418736 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000418237 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000419355 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: adrenal_gland, [Cosmic]: liver, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:10918210,pubmed:11801555,pubmed:12115559,pubmed:12167102,pubmed:12759240,pubmed:15221786,pubmed:1647768,pubmed:17289876,pubmed:21409490,pubmed:21512767,pubmed:22722201,pubmed:22722839,pubmed:22980975,pubmed:23856246,cosmic_study:323,cosmic_study:328,cosmic_study:385,cosmic_study:391,cosmic_study:414,cosmic_study:431,cosmic_study:504,pubmed:7604888,pubmed:8934544,pubmed:9823556 17p13.1 17 7673800C> A null V F 115 115 missense 0.86 possibly damaging 0.05 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000436116 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000426446 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000439046 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000419865 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492506 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000692432 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Lip and oral cavity carcinoma ClinVar:RCV001255678 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000420544 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000430539 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000437117 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000441279 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000431168 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000431803 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000421122 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lip and oral cavity carcinoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver pubmed:10760686,pubmed:1324794,pubmed:15492791,pubmed:21720365,pubmed:22722839,cosmic_study:331,cosmic_study:391,pubmed:9463584,pubmed:9921983 17p13.1 17 7673799A> C null V G 115 115 missense 0.995 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000438367 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Adenocarcinoma of prostate ClinVar:RCV000422877 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Adenocarcinoma of stomach ClinVar:RCV000428087 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000420871 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000701251 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000439367 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000418040 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Neoplasm of brain ClinVar:RCV000440106 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000428696 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000433566 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000429377 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Pancreatic adenocarcinoma ClinVar:RCV000422166 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520005 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:10499619,pubmed:11044641,pubmed:11329143,pubmed:12509970,pubmed:15538112,pubmed:23196062,cosmic_study:375,pubmed:8481915,pubmed:8682586,pubmed:9052405,pubmed:9811333 17p13.1 17 7673800C> G null V L 115 115 missense 0.076 benign 0.05 tolerated 1 Small cell lung cancer MIM:182280 ClinVar:RCV000435261 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000441009 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000434455 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000442601 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000441652 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000436058 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000418840 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000430324 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000431612 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000423743 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000425095 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000440235 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785323 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000428868 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000420903 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000423016 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:10690522,pubmed:10764158,pubmed:11044641,pubmed:11152345,pubmed:11221842,pubmed:11333292,pubmed:11929815,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:1310070,pubmed:14499690,pubmed:15057748,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15564288,pubmed:16024113,pubmed:17308273,pubmed:18772397,pubmed:21380628,pubmed:21798897,pubmed:21822264,pubmed:22877736,pubmed:22891273,pubmed:22980975,pubmed:23026641,pubmed:23525077,pubmed:23619168,pubmed:23770606,pubmed:24145436,pubmed:24185509,cosmic_study:332,cosmic_study:343,cosmic_study:352,cosmic_study:431,cosmic_study:448,cosmic_study:457,cosmic_study:464,cosmic_study:486,cosmic_study:549,cosmic_study:553,cosmic_study:561,pubmed:9115587,pubmed:9846966 17p13.1 17 7673796C> A null C F 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000429558 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000440640 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000433579 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000441393 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000435015 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000420853 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001183954 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000432909 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000435695 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000424757 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000418020 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000420225 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000425483 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000443110 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000426139 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000431136 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519983 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma pubmed:10582680,pubmed:10896202,pubmed:15257314,pubmed:15523690,pubmed:21573592,pubmed:21901162,pubmed:24797764,pubmed:8417784 17p13.1 17 7673797A> G null C R 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000442259 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000423341 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000423990 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000434260 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000420599 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000430590 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580293 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000419235 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000431286 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000441960 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000441335 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000441019 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000419912 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425744 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000438476 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000436480 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus pubmed:11801555,pubmed:18948947,pubmed:22817889,pubmed:23788652,cosmic_study:341,cosmic_study:444,cosmic_study:527 17p13.1 17 7673796C> G null C S 116 116 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000437115 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525279 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10567903,pubmed:10735894,pubmed:12921629,pubmed:17573896,pubmed:23851445,pubmed:7905277,pubmed:8392033,pubmed:9816045 17p13.1 17 7673795A> C null C W 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561423 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525279 NCI-TCGA Cosmic [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:10567903,pubmed:10735894,pubmed:12921629,pubmed:17573896,pubmed:23851445,pubmed:7905277,pubmed:8392033,pubmed:9816045 17p13.1 17 7673795A> C null C W 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785448 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma ClinVar:RCV000442357 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000442329 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000439892 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000443293 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000424784 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568594 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000197359 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000435410 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000418175 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000422025 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000422663 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000433358 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000438333 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785533 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000439245 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000423497 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000434190 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs863224451 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [ClinVar]: Adrenocortical carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract pubmed:7887414 pubmed:10748875,pubmed:10802655,pubmed:11044641,pubmed:11595686,pubmed:11801555,pubmed:11857392,pubmed:12115559,pubmed:12181274,pubmed:12649174,pubmed:1324794,pubmed:1347252,pubmed:14580680,pubmed:14618621,pubmed:15138567,pubmed:15221786,pubmed:15254976,pubmed:15541116,pubmed:16078640,pubmed:16183105,pubmed:17417968,pubmed:17573896,pubmed:17704924,pubmed:18772397,pubmed:18948947,pubmed:21559688,pubmed:21720365,pubmed:22197931,pubmed:22609129,pubmed:22722201,pubmed:22810696,pubmed:23415222,pubmed:24325359,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:375,cosmic_study:376,cosmic_study:385,cosmic_study:389,cosmic_study:413,cosmic_study:465,cosmic_study:562,pubmed:7585578,pubmed:7767998,pubmed:7882357,pubmed:8033152,pubmed:8392033,pubmed:8402617,pubmed:8407553,pubmed:8630996,pubmed:9115587,pubmed:9649138,pubmed:9823556 17p13.1 17 7673796C> T null C Y 116 116 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000429197 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786202082 cosmic curated [Cosmic]: breast, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10656431,pubmed:11004672,pubmed:15499621,pubmed:15924253,pubmed:22980975,pubmed:24190505,cosmic_study:431,cosmic_study:518,pubmed:8664051 17p13.1 17 7673793G> T null A D 117 117 missense 0.987 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223364 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786202082 NCI-TCGA Cosmic [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10735894,pubmed:20972464,pubmed:21559688,pubmed:8062274 17p13.1 17 7673793G> C null A G 117 117 missense 0.919 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164718 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1131691029 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: bone, [Cosmic]: skin, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: thymus pubmed:1582882,pubmed:16271749,pubmed:18070208,pubmed:21533174,pubmed:21720365,pubmed:22561520,cosmic_study:331,cosmic_study:409,cosmic_study:414,cosmic_study:582,pubmed:7572785,pubmed:8317886,pubmed:8781571,pubmed:8821948,pubmed:9568784,pubmed:9646035 17p13.1 17 7673794C> G null A P 117 117 missense 0.987 probably damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492584 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1131691029 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: bone, [Cosmic]: skin, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: thymus pubmed:1582882,pubmed:16271749,pubmed:18070208,pubmed:21533174,pubmed:21720365,pubmed:22561520,cosmic_study:331,cosmic_study:409,cosmic_study:414,cosmic_study:582,pubmed:7572785,pubmed:8317886,pubmed:8781571,pubmed:8821948,pubmed:9568784,pubmed:9646035 17p13.1 17 7673794C> G null A P 117 117 missense 0.987 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000705570 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1131691029 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: bone, [Cosmic]: skin, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: biliary_tract, [Cosmic]: thymus pubmed:1582882,pubmed:16271749,pubmed:18070208,pubmed:21533174,pubmed:21720365,pubmed:22561520,cosmic_study:331,cosmic_study:409,cosmic_study:414,cosmic_study:582,pubmed:7572785,pubmed:8317886,pubmed:8781571,pubmed:8821948,pubmed:9568784,pubmed:9646035 17p13.1 17 7673794C> G null A P 117 117 missense 0.987 probably damaging 0.02 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785453 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1131691029 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673794C> T null A T 117 117 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001027346 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057523347 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: urinary_tract, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:11044641,pubmed:12673679,pubmed:14641293,pubmed:16183105,pubmed:16461462,cosmic_study:413,pubmed:8934544 17p13.1 17 7673789A> T null C * 118 118 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000793572 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs763098116 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: upper_aerodigestive_tract, [Cosmic]: cervix pubmed:10427138,pubmed:10706127,pubmed:11223675,pubmed:11378660,pubmed:11857392,pubmed:12118324,pubmed:1324794,pubmed:14551737,pubmed:15138567,pubmed:15564288,pubmed:16461462,pubmed:17699855,pubmed:1979160,pubmed:21720365,pubmed:22975805,pubmed:23774526,cosmic_study:331,cosmic_study:417,cosmic_study:453,pubmed:8280379,pubmed:8437842,pubmed:8826941,pubmed:8934544 17p13.1 17 7673790C> A null C F 118 118 missense 0.996 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000532028 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1064795369 NCI-TCGA Cosmic [Cosmic]: soft_tissue, [Cosmic]: skin, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11406645,pubmed:1312896,pubmed:15802015,pubmed:21665242,pubmed:8631591 17p13.1 17 7673791A> C null C G 118 118 missense 0.991 probably damaging 0.02 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1064795369 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation pubmed:10918210 17p13.1 17 7673791A> G null C R 118 118 missense 0.996 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000819627 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs763098116 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673790C> G null C S 118 118 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000811755 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs763098116 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [UniProt]: an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: oesophagus, [Cosmic]: bone, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: peritoneum pubmed:10392633,pubmed:10728699,pubmed:10748875,pubmed:11704835,pubmed:15257314,pubmed:16061860,pubmed:20404136,pubmed:7872723,pubmed:7917542,pubmed:7923098,pubmed:8378080,pubmed:9121123,pubmed:9258660,pubmed:9649138 17p13.1 17 7673790C> T null C Y 118 118 missense 0.998 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165199 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs763098116 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [UniProt]: an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: oesophagus, [Cosmic]: bone, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: peritoneum pubmed:10392633,pubmed:10728699,pubmed:10748875,pubmed:11704835,pubmed:15257314,pubmed:16061860,pubmed:20404136,pubmed:7872723,pubmed:7917542,pubmed:7923098,pubmed:8378080,pubmed:9121123,pubmed:9258660,pubmed:9649138 17p13.1 17 7673790C> T null C Y 118 118 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000456858 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000437214 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000419944 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000433992 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000418460 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000429755 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000436548 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000425201 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000435065 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785511 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425878 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000442861 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000440415 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10223186,pubmed:11044641,pubmed:11244334,pubmed:11297255,pubmed:11929815,pubmed:14638962,pubmed:15523690,pubmed:15693850,pubmed:15930341,pubmed:17133269,pubmed:17456604,pubmed:22923510,pubmed:22980975,cosmic_study:323,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:419,cosmic_study:431,cosmic_study:434,pubmed:7930674,pubmed:8137263,pubmed:8242631,pubmed:8272291,pubmed:8402617,pubmed:8639789,pubmed:8895490 17p13.1 17 7673788G> T null P T 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000429149 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs786204061 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673773_7673790du p null P null 119 124 insertion 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000167926 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000426460 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567850 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000688854 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000437992 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000430547 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000438674 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000437350 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000420739 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000441270 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000439356 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785477 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000433017 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000417926 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000427997 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs17849781 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:15489334 pubmed:10706127,pubmed:10896202,pubmed:11044641,pubmed:11857392,pubmed:15154647,pubmed:17456604,pubmed:17960768,pubmed:21798893,pubmed:21798897,pubmed:22810696,pubmed:23856246,cosmic_study:323,cosmic_study:343,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:504,pubmed:7715016,pubmed:8156519,pubmed:8182933,pubmed:9030251,pubmed:9485035,pubmed:9703286 17p13.1 17 7673788G> C null P A 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000422309 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000426301 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001017582 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633329 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000435517 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000422133 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000444453 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000427682 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000417607 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000437485 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000428293 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000433513 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000420265 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000443564 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10499619,pubmed:10567903,pubmed:15541116,pubmed:15802015,pubmed:1638540,pubmed:17960768,pubmed:21720365,pubmed:22980975,pubmed:23585556,cosmic_study:328,cosmic_study:331,cosmic_study:417,cosmic_study:431,pubmed:7767998,pubmed:8180965,pubmed:8293408,pubmed:9000573 17p13.1 17 7673787G> T null P H 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000424797 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Carcinoma of esophagus ClinVar:RCV000428205 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214784 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001042706 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000433311 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000440687 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000419043 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000443824 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Neoplasm of brain ClinVar:RCV000421915 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000423023 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000417969 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785311 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000439555 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000430442 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000434963 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [Cosmic]: kidney, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:2263646 pubmed:10070891,pubmed:10095452,pubmed:10389750,pubmed:10656431,pubmed:10914716,pubmed:10962443,pubmed:10999735,pubmed:11044641,pubmed:11159175,pubmed:11241240,pubmed:11494027,pubmed:11555594,pubmed:11590071,pubmed:12115559,pubmed:12807758,pubmed:15221786,pubmed:15523690,pubmed:15643509,pubmed:16260276,pubmed:16421478,pubmed:17437012,pubmed:19739123,pubmed:20668451,pubmed:21760996,pubmed:21796119,pubmed:21798893,pubmed:2263646,pubmed:23907151,pubmed:24221193,cosmic_study:338,cosmic_study:349,cosmic_study:366,cosmic_study:382,cosmic_study:414,cosmic_study:418,cosmic_study:550,pubmed:7615358,pubmed:7651727,pubmed:7780983,pubmed:7834636,pubmed:7923098,pubmed:7997263,pubmed:8033152,pubmed:8605352,pubmed:8630516,pubmed:8916968,pubmed:9185695,pubmed:9277151,pubmed:9683299 17p13.1 17 7673787G> A null P L 119 119 missense 1.0 probably damaging 0.03 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000429345 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000423863 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572417 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000797363 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000431945 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000441126 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000431661 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000444083 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000432244 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000443990 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000420956 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785498 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425930 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000431305 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000443337 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659802 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11329143,pubmed:11704866,pubmed:12115559,pubmed:12203794,pubmed:12807758,pubmed:15138567,pubmed:15802015,pubmed:16572201,pubmed:17573896,pubmed:18772890,pubmed:20668451,pubmed:21720365,pubmed:22810696,pubmed:23349305,pubmed:23525077,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:464,cosmic_study:473,cosmic_study:585,pubmed:7952630,pubmed:8012986,pubmed:8437842,pubmed:8495424,pubmed:8664051,pubmed:8909247,pubmed:8916968,pubmed:9260591,pubmed:9703286,pubmed:9823556 17p13.1 17 7673787G> C null P R 119 119 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000424036 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Carcinoma of esophagus ClinVar:RCV000432977 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562528 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633344 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000427714 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000427094 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000433428 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000443572 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Neoplasm of brain ClinVar:RCV000432228 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000435645 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000444293 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785527 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000437941 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000439725 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000426679 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs17849781 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974,pubmed:2263646,pubmed:9450901 pubmed:10607740,pubmed:10693987,pubmed:10850436,pubmed:10914716,pubmed:11044641,pubmed:11078762,pubmed:11152345,pubmed:11329143,pubmed:11895856,pubmed:11960918,pubmed:12203794,pubmed:12649174,pubmed:14688025,pubmed:15057748,pubmed:15161705,pubmed:15388813,pubmed:15656799,pubmed:16818855,pubmed:16959974,pubmed:17488404,pubmed:17849424,pubmed:18772890,pubmed:1946433,pubmed:20668451,pubmed:21097718,pubmed:21984974,pubmed:22089350,pubmed:22197931,pubmed:2263646,pubmed:23525077,pubmed:24633315,cosmic_study:328,cosmic_study:331,cosmic_study:338,cosmic_study:344,cosmic_study:357,cosmic_study:389,cosmic_study:418,cosmic_study:464,cosmic_study:473,pubmed:7615358,pubmed:7665920,pubmed:7780983,pubmed:7829392,pubmed:7882357,pubmed:8187092,pubmed:8194706,pubmed:8402617,pubmed:8483937,pubmed:8496613,pubmed:8761369,pubmed:8934544,pubmed:9113074,pubmed:9413950,pubmed:9431782,pubmed:9450901,pubmed:9665415,pubmed:9924427 17p13.1 17 7673788G> A null P S 119 119 missense 1.0 probably damaging 0.02 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000442821 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064793881 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: small_intestine, [Cosmic]: bone, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10225439,pubmed:10519384,pubmed:10962443,pubmed:10999741,pubmed:11159175,pubmed:11309337,pubmed:11494027,pubmed:11801555,pubmed:11857392,pubmed:12167102,pubmed:12181274,pubmed:12404284,pubmed:12649174,pubmed:16007576,pubmed:16024113,pubmed:16287491,pubmed:17079356,pubmed:17319279,pubmed:17962810,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:24797764,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:375,cosmic_study:414,pubmed:7819113,pubmed:7997263,pubmed:8934544,pubmed:8943054,pubmed:9655287 17p13.1 17 7673784C> T null G E 120 120 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492354 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064793881 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: small_intestine, [Cosmic]: bone, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10225439,pubmed:10519384,pubmed:10962443,pubmed:10999741,pubmed:11159175,pubmed:11309337,pubmed:11494027,pubmed:11801555,pubmed:11857392,pubmed:12167102,pubmed:12181274,pubmed:12404284,pubmed:12649174,pubmed:16007576,pubmed:16024113,pubmed:16287491,pubmed:17079356,pubmed:17319279,pubmed:17962810,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:24797764,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:375,cosmic_study:414,pubmed:7819113,pubmed:7997263,pubmed:8934544,pubmed:8943054,pubmed:9655287 17p13.1 17 7673784C> T null G E 120 120 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785274 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064793881 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [Cosmic]: small_intestine, [Cosmic]: bone, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract pubmed:10223186,pubmed:10225439,pubmed:10519384,pubmed:10962443,pubmed:10999741,pubmed:11159175,pubmed:11309337,pubmed:11494027,pubmed:11801555,pubmed:11857392,pubmed:12167102,pubmed:12181274,pubmed:12404284,pubmed:12649174,pubmed:16007576,pubmed:16024113,pubmed:16287491,pubmed:17079356,pubmed:17319279,pubmed:17962810,pubmed:21533174,pubmed:21720365,pubmed:21798897,pubmed:24797764,cosmic_study:322,cosmic_study:331,cosmic_study:343,cosmic_study:375,cosmic_study:414,pubmed:7819113,pubmed:7997263,pubmed:8934544,pubmed:8943054,pubmed:9655287 17p13.1 17 7673784C> T null G E 120 120 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000989709 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525248 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: liver, [Cosmic]: ovary, [Cosmic]: peritoneum, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10728699,pubmed:21070477,pubmed:23430953,cosmic_study:413,pubmed:7852189,pubmed:7896446,pubmed:8261448,pubmed:9610789,pubmed:9788444 17p13.1 17 7673785C> T null G R 120 120 missense 1.0 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566142 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525248 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: liver, [Cosmic]: ovary, [Cosmic]: peritoneum, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10728699,pubmed:21070477,pubmed:23430953,cosmic_study:413,pubmed:7852189,pubmed:7896446,pubmed:8261448,pubmed:9610789,pubmed:9788444 17p13.1 17 7673785C> T null G R 120 120 missense 1.0 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000547189 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567547721 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673781de l null R null 121 121 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772426 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000439619 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000426479 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000427170 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000439157 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568150 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000706131 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000436708 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000419917 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Nasopharyngeal Neoplasms ClinVar:RCV000421324 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000435565 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000438255 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785300 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000439812 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000418465 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000429590 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000420625 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000424417 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs753660142 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: thymus pubmed:10914716,pubmed:11801556,pubmed:12649174,pubmed:1327523,pubmed:16229746,pubmed:18025850,pubmed:20668451,pubmed:20874727,cosmic_study:322,cosmic_study:323,cosmic_study:338,cosmic_study:377,cosmic_study:382,cosmic_study:417,pubmed:7572785,pubmed:7633655,pubmed:7658697,pubmed:8824725,pubmed:8934544,pubmed:8980360,pubmed:9665415 17p13.1 17 7673782T> C null R G 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000445156 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs587781564 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673772_7673782delinsT G null R H 121 124 - 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129588 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000419744 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000429336 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000434436 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000425612 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633330 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000437418 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000417523 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Malignant tumor of prostate MIM:176807 pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000149052 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Nasopharyngeal Neoplasms ClinVar:RCV000435871 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000428657 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000438915 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000419067 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000426315 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000442289 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000434213 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000445006 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Malignant tumor of prostate, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:16959974 pubmed:10367371,pubmed:11595686,pubmed:1324794,pubmed:15564288,pubmed:16959974,pubmed:17881637,pubmed:18948947,pubmed:21720365,pubmed:23091298,pubmed:23265383,pubmed:23619168,cosmic_study:331,cosmic_study:341,cosmic_study:417,cosmic_study:418,cosmic_study:450,cosmic_study:561,pubmed:7928628,pubmed:8617082,pubmed:8934544,pubmed:9846966 17p13.1 17 7673781C> A null R I 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000427666 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000440980 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000436528 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Carcinoma of esophagus ClinVar:RCV000438568 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000425366 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492483 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633356 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000423933 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000418023 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Nasopharyngeal Neoplasms ClinVar:RCV000433708 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Neoplasm of brain ClinVar:RCV000442077 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000431165 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000428734 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000444610 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000423448 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000423739 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000436148 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1694291,pubmed:25732823 pubmed:10092071,pubmed:10874665,pubmed:10956404,pubmed:11159175,pubmed:11241240,pubmed:11391594,pubmed:11801555,pubmed:15057748,pubmed:15073856,pubmed:15308588,pubmed:15499621,pubmed:15541116,pubmed:16061860,pubmed:16094622,pubmed:16105905,pubmed:16532037,pubmed:17417968,pubmed:17917588,pubmed:1855226,pubmed:20668451,pubmed:21409490,pubmed:21533174,pubmed:21544334,pubmed:21552959,pubmed:21798893,pubmed:21822268,pubmed:22495314,pubmed:23525077,pubmed:23575477,pubmed:23856246,pubmed:24121792,pubmed:24140581,cosmic_study:338,cosmic_study:349,cosmic_study:384,cosmic_study:398,cosmic_study:413,cosmic_study:464,cosmic_study:492,cosmic_study:504,cosmic_study:548,cosmic_study:557,cosmic_study:581,cosmic_study:583,pubmed:7712430,pubmed:7852189,pubmed:8044781,pubmed:8483937,pubmed:8950983,pubmed:9264274,pubmed:9568784,pubmed:9736425,pubmed:9921983 17p13.1 17 7673781C> T null R K 121 121 missense 0.996 probably damaging 0.03 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000428952 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567547687 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary, [Cosmic]: lung pubmed:10830574,pubmed:11595686,pubmed:12167102,pubmed:12649174,pubmed:1327523,pubmed:15523690,pubmed:16024113,pubmed:17437012,pubmed:17620607,pubmed:17881637,pubmed:22484628,pubmed:22493262,cosmic_study:414,cosmic_study:480 17p13.1 17 7673780T> G null R S 121 121 missense 0.999 probably damaging 0.02 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785449 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000423074 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000432461 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000445307 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000420086 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000198779 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000441513 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000434981 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Nasopharyngeal Neoplasms ClinVar:RCV000437764 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Nasopharyngeal carcinoma MIM:607107 ClinVar:RCV000013167 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000440816 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000422958 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000428404 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000418209 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000424688 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000432716 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000441912 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121912660 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: biliary_tract, [Cosmic]: vagina, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Nasopharyngeal Neoplasms, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Nasopharyngeal carcinoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: small_intestine, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Uterine cervical neoplasms, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:1631151 pubmed:10492244,pubmed:10607740,pubmed:10637254,pubmed:10690522,pubmed:10693987,pubmed:10929724,pubmed:10948316,pubmed:11044641,pubmed:11391594,pubmed:11801555,pubmed:12509970,pubmed:14580680,pubmed:14670539,pubmed:15154647,pubmed:15499621,pubmed:15538112,pubmed:16061860,pubmed:1631151,pubmed:1682043,pubmed:17456604,pubmed:21512767,pubmed:21533174,pubmed:21822268,pubmed:22493262,pubmed:22941189,pubmed:22975805,pubmed:23026641,pubmed:24121792,cosmic_study:398,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:424,cosmic_study:453,cosmic_study:557,cosmic_study:581,pubmed:7599041,pubmed:7606196,pubmed:7691145,pubmed:7957118,pubmed:8073440,pubmed:8542583,pubmed:8551805,pubmed:9033644,pubmed:9036877,pubmed:9139870,pubmed:9264274,pubmed:9284834,pubmed:9354678,pubmed:9665415,pubmed:9761125 17p13.1 17 7673781C> G null R T 121 121 missense 0.999 probably damaging 0.0 deleterious 1 Uterine cervical neoplasms ClinVar:RCV000422446 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567547661 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673778_7673779TC[2 ] null D null 122 122 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000691758 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525226 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673777_7673778ins C null D null 122 122 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570263 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000419849 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000435611 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000440602 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000424893 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000425979 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000440361 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000438210 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000429708 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000420104 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Neuroblastoma (NBLST1) ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. MIM:256700 pubmed:20301782,ClinVar:RCV000433406 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000443934 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000430790 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000435784 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000422679 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000442214 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs587781525 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10225439,pubmed:18772890,cosmic_study:329,cosmic_study:473 17p13.1 17 7673778T> G null D A 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000417517 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000443254 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000430695 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000431703 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000438151 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633352 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000424389 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000422083 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000432958 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000440974 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000420516 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Neuroblastoma (NBLST1) ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. MIM:256700 pubmed:20301782,ClinVar:RCV000430093 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785286 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000417671 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000440370 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000432322 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000443165 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000439711 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:1459726 pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> C null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000424902 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000426180 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000424002 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000426863 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000421233 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000824609 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000443405 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000428968 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000442054 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000418705 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000429505 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Neuroblastoma (NBLST1) ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. MIM:256700 pubmed:20301782,ClinVar:RCV000422096 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785452 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000434267 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000436424 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000439749 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000443489 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000438896 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: autonomic_ganglia, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10212000,pubmed:10391558,pubmed:10690522,pubmed:11230707,pubmed:15956964,pubmed:16890317,pubmed:17417968,pubmed:17488404,pubmed:21556517,pubmed:21822268,pubmed:22089350,pubmed:23334666,pubmed:23415222,pubmed:24057326,pubmed:24121792,cosmic_study:371,cosmic_study:398,cosmic_study:417,cosmic_study:465,cosmic_study:466,cosmic_study:557,cosmic_study:581,pubmed:7952630,pubmed:8058340,pubmed:8389246,pubmed:8407553,pubmed:8483937,pubmed:8916968,pubmed:8950983,pubmed:9036877,pubmed:9466649 17p13.1 17 7673779C> T null D N 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000437075 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000438736 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000417569 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000423894 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000443096 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215048 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000799325 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000431328 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000433464 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000440916 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000432892 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000435739 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Neuroblastoma (NBLST1) ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. MIM:256700 pubmed:20301782,ClinVar:RCV000441595 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000423186 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000426125 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000434194 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000435682 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000442104 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: breast, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Malignant neoplasm of body of uterus pubmed:12001123,pubmed:1647768,pubmed:20668451,cosmic_study:338,cosmic_study:414,cosmic_study:417 17p13.1 17 7673778T> A null D V 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000418100 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000431847 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000419187 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000438115 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000437480 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000792342 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000429763 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000440017 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000442319 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000427237 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000422382 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Neuroblastoma (NBLST1) ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. MIM:256700 pubmed:20301782,ClinVar:RCV000442636 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000432647 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000424398 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000430133 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000422971 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000419880 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: endometrium, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: kidney, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Neuroblastoma, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:14745729,pubmed:1656362,pubmed:17350822,pubmed:20668451,pubmed:22495314,pubmed:24145436,cosmic_study:338,cosmic_study:384,cosmic_study:414,cosmic_study:416,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:549,pubmed:9792155 17p13.1 17 7673779C> A null D Y 122 122 missense 1.0 probably damaging 0.0 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000443331 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525215 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673776_7673784de l null D null 122 124 inframe deletion 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568716 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: prostate, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Carcinoma of colon pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> T null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Carcinoma of colon (CRC) Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. pubmed:17060676,pubmed:19042984,pubmed:20301390,pubmed:22138009,pubmed:22855150,pubmed:23012255,pubmed:23429431,pubmed:23852704,pubmed:24996433,pubmed:25006736,pubmed:25373533,ClinVar:RCV000499361 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: prostate, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Carcinoma of colon pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> T null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000470818 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519984 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: prostate, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Carcinoma of colon pubmed:10567903,pubmed:10706127,pubmed:10850436,pubmed:11244334,pubmed:11595686,pubmed:11801555,pubmed:11929815,pubmed:12759240,pubmed:15017592,pubmed:15145527,pubmed:15221786,pubmed:16271749,pubmed:16572201,pubmed:17456604,pubmed:18772397,pubmed:20668451,pubmed:22844452,pubmed:24145436,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:382,cosmic_study:414,cosmic_study:417,cosmic_study:549,pubmed:7573356,pubmed:7658697,pubmed:7743473,pubmed:8290606,pubmed:8866234,pubmed:8934544 17p13.1 17 7673777G> T null D E 122 122 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785325 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000418257 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000441016 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Glioblastoma ClinVar:RCV000434395 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000442813 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129516 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633367 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000433596 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000429146 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000418481 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000423959 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000436592 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Neuroblastoma (NBLST1) ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. MIM:256700 pubmed:20301782,ClinVar:RCV000425885 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000436807 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000438583 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000431187 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000426980 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000423760 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs587781525 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Multiple myeloma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:1736012,pubmed:21720365,pubmed:22037554,cosmic_study:331,cosmic_study:479,pubmed:7547235,pubmed:7707106,pubmed:8033087,pubmed:8102535,pubmed:8137272,pubmed:8481915 17p13.1 17 7673778T> C null D G 122 122 missense 1.0 probably damaging 0.01 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000442068 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000429459 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Chronic lymphocytic leukemia (CLL) MIM:151400 ClinVar:RCV000428355 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Glioblastoma ClinVar:RCV000443566 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000439212 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000434610 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000420094 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000437082 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Multiple myeloma (MM) MIM:254500 ClinVar:RCV000422034 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000438193 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Neuroblastoma (NBLST1) ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. MIM:256700 pubmed:20301782,ClinVar:RCV000421295 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000427507 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000439019 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000427301 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000429671 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000418744 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764146326 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Chronic lymphocytic leukemia, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Uterine Carcinosarcoma, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Neuroblastoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:16959974 pubmed:10567903,pubmed:10589767,pubmed:11389059,pubmed:11595686,pubmed:12648581,pubmed:12972634,pubmed:15499621,pubmed:16570275,pubmed:16959974,pubmed:21559688,pubmed:21720365,pubmed:23103869,pubmed:23917401,pubmed:24850292,cosmic_study:323,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:436,cosmic_study:552,pubmed:8012986,pubmed:8102535,pubmed:8402617,pubmed:8721685,pubmed:9043035,pubmed:9761125 17p13.1 17 7673779C> G null D H 122 122 missense 1.0 probably damaging 0.05 deleterious 1 Uterine Carcinosarcoma ClinVar:RCV000423682 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1131691027 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673777de l null R null 123 123 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492443 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000432620 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000424978 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000440221 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000428608 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000434763 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492764 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000709402 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000426071 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000425389 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000438637 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000417824 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000441861 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000441023 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000417919 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000423789 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000435036 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000427957 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000442220 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:11044641,pubmed:11929815,pubmed:12649174,pubmed:12719725,pubmed:1312896,pubmed:15538112,pubmed:15702478,pubmed:16024113,pubmed:16572201,pubmed:17573896,pubmed:21103049,pubmed:21720365,pubmed:23026641,cosmic_study:331,cosmic_study:583,pubmed:7633655,pubmed:7952630,pubmed:8934544 17p13.1 17 7673775C> G null R P 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000433722 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000423658 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000418376 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000426667 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000421276 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000439593 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492420 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000226273 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000709768 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000438489 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000442318 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000434324 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000437335 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000429554 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000425549 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000433180 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000431918 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000428909 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000436164 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000444806 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: bone, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [UniProt]: a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:18453682 pubmed:10427138,pubmed:10728699,pubmed:10962443,pubmed:11932899,pubmed:12176791,pubmed:12921629,pubmed:16941491,pubmed:17849424,pubmed:19739123,pubmed:21680795,pubmed:21798897,pubmed:24292195,cosmic_study:343,cosmic_study:400,cosmic_study:418,cosmic_study:563,pubmed:7819113,pubmed:8102535,pubmed:8569192,pubmed:8781571,pubmed:8895490,pubmed:8995554,pubmed:9851256 17p13.1 17 7673775C> T null R Q 123 123 missense 0.977 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000427734 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000426680 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000435581 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Astrocytoma, anaplastic ClinVar:RCV000722016 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000436175 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Glioblastoma ClinVar:RCV000422920 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000431084 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000210145 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000148905 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144670 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Li-Fraumeni-like syndrome (LFL) ClinVar:RCV000013161 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000437607 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000420798 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000444687 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000444544 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000433225 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000430759 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000417906 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785546 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425909 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000434706 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Pleomorphic xanthoastrocytoma (PXA) ClinVar:RCV000722016 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000442231 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000441472 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [UniProt]: germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [Cosmic]: thyroid, [ClinVar]: Li-Fraumeni-like syndrome, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: bone, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Renal cell carcinoma, papillary, 1, [ClinVar]: Carcinoma of esophagus, [Cosmic]: peritoneum, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [Cosmic]: pancreas, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [Cosmic]: vulva, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Astrocytoma, anaplastic, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: thymus, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:20385133,pubmed:8829627 pubmed:10223186,pubmed:10348818,pubmed:10427138,pubmed:10567903,pubmed:10568819,pubmed:10589767,pubmed:10621852,pubmed:10637254,pubmed:10690522,pubmed:10699891,pubmed:10728699,pubmed:10753186,pubmed:10754498,pubmed:10760817,pubmed:10802655,pubmed:10835493,pubmed:10850436,pubmed:10914716,pubmed:10999735,pubmed:11044641,pubmed:11079169,pubmed:11141476,pubmed:11159175,pubmed:11185887,pubmed:11229518,pubmed:11231481,pubmed:11244334,pubmed:11251174,pubmed:11275993,pubmed:11306496,pubmed:11309337,pubmed:11325447,pubmed:11353048,pubmed:11358811,pubmed:11376803,pubmed:11384100,pubmed:11390535,pubmed:11406538,pubmed:11410326,pubmed:11592095,pubmed:11595686,pubmed:11704835,pubmed:11704866,pubmed:11753042,pubmed:11756185,pubmed:11857392,pubmed:11881786,pubmed:11895856,pubmed:11929815,pubmed:11948487,pubmed:11960918,pubmed:11981662,pubmed:12007715,pubmed:12093899,pubmed:12115559,pubmed:12167102,pubmed:12176791,pubmed:12649174,pubmed:12713560,pubmed:12771990,pubmed:12792793,pubmed:12807758,pubmed:12870229,pubmed:12915879,pubmed:12921629,pubmed:1310070,pubmed:1346255,pubmed:1349175,pubmed:1394236,pubmed:14618621,pubmed:14672397,pubmed:14688025,pubmed:14719105,pubmed:14962108,pubmed:15064998,pubmed:15073856,pubmed:15126338,pubmed:15167009,pubmed:15363320,pubmed:15492791,pubmed:15523690,pubmed:15564288,pubmed:15644779,pubmed:1565143,pubmed:1565144,pubmed:15674332,pubmed:15802015,pubmed:15956964,pubmed:16024113,pubmed:16061860,pubmed:16139561,pubmed:16416221,pubmed:16421478,pubmed:16760300,pubmed:16818615,pubmed:17001163,pubmed:17259658,pubmed:17266182,pubmed:17410283,pubmed:17417968,pubmed:17539962,pubmed:17573896,pubmed:17620607,pubmed:17638058,pubmed:17683074,pubmed:17704924,pubmed:17849424,pubmed:17917588,pubmed:17982662,pubmed:18772396,pubmed:18772397,pubmed:18772890,pubmed:18948947,pubmed:1913680,pubmed:1923503,pubmed:2024123,pubmed:20404136,pubmed:21060032,pubmed:21097718,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21531819,pubmed:21533174,pubmed:21559688,pubmed:21573561,pubmed:21573592,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:21798897,pubmed:22037554,pubmed:22089350,pubmed:22493262,pubmed:22536362,pubmed:22561520,pubmed:22607702,pubmed:22609107,pubmed:22810696,pubmed:22817889,pubmed:22832583,pubmed:22877736,pubmed:22895193,pubmed:22980975,pubmed:23196062,pubmed:23525077,pubmed:23607916,pubmed:23619168,pubmed:23700467,pubmed:23765114,pubmed:23770606,pubmed:23917401,pubmed:24140581,pubmed:24292195,pubmed:24375041,pubmed:24667986,cosmic_study:322,cosmic_study:328,cosmic_study:329,cosmic_study:331,cosmic_study:332,cosmic_study:341,cosmic_study:343,cosmic_study:344,cosmic_study:349,cosmic_study:375,cosmic_study:376,cosmic_study:379,cosmic_study:382,cosmic_study:409,cosmic_study:414,cosmic_study:417,cosmic_study:418,cosmic_study:419,cosmic_study:431,cosmic_study:435,cosmic_study:444,cosmic_study:448,cosmic_study:452,cosmic_study:464,cosmic_study:473,cosmic_study:479,cosmic_study:485,cosmic_study:486,cosmic_study:548,cosmic_study:552,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7547235,pubmed:7549812,pubmed:7585578,pubmed:7614480,pubmed:7665248,pubmed:7674088,pubmed:7704244,pubmed:7730141,pubmed:7767983,pubmed:7767998,pubmed:7777479,pubmed:7852189,pubmed:7872723,pubmed:7883779,pubmed:7928628,pubmed:7952630,pubmed:7997263,pubmed:8028358,pubmed:8033106,pubmed:8039163,pubmed:8039618,pubmed:8062274,pubmed:8073440,pubmed:8102535,pubmed:8137263,pubmed:8219205,pubmed:8293408,pubmed:8312582,pubmed:8317886,pubmed:8392033,pubmed:8401536,pubmed:8408453,pubmed:8417784,pubmed:8483937,pubmed:8495424,pubmed:8617483,pubmed:8645583,pubmed:8718514,pubmed:8794405,pubmed:8909247,pubmed:8916968,pubmed:8934544,pubmed:9030251,pubmed:9036877,pubmed:9043035,pubmed:9113074,pubmed:9264274,pubmed:9354678,pubmed:9413950,pubmed:9431782,pubmed:9450908,pubmed:9460999,pubmed:9470817,pubmed:9546059,pubmed:9554525,pubmed:9622088,pubmed:9635831,pubmed:9649138,pubmed:9650746,pubmed:9683299,pubmed:9703286,pubmed:9740272,pubmed:9761125,pubmed:9807634,pubmed:9823556,pubmed:9886570 17p13.1 17 7673776G> A null R W 123 123 missense 0.998 probably damaging 0.0 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000423580 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567547066 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7673734_7673778de l null R null 123 137 inframe deletion 1 Ovarian Neoplasms ClinVar:RCV000785250 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Adenocarcinoma of prostate ClinVar:RCV000430047 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000431764 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Carcinoma of esophagus ClinVar:RCV000422747 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Glioblastoma ClinVar:RCV000425179 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000427647 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129010 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000422134 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000440446 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Malignant neoplasm of body of uterus ClinVar:RCV000430393 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Neoplasm of brain ClinVar:RCV000419993 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000437219 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000445294 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000419333 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Ovarian Neoplasms ClinVar:RCV000785299 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000442627 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000422367 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Renal cell carcinoma, papillary, 1 (RCCP1) MIM:605074 pubmed:24319509,pubmed:25394175,ClinVar:RCV000440653 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000442540 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs28934574 cosmic curated [ClinVar]: Malignant melanoma of skin, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [ClinVar]: Squamous cell lung carcinoma, [Cosmic]: oesophagus, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Non-Hodgkin lymphoma, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Renal cell carcinoma, papillary, 1, [UniProt]: germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [ClinVar]: Glioblastoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus pubmed:10690522,pubmed:10754498,pubmed:11040944,pubmed:11308256,pubmed:11801555,pubmed:11929815,pubmed:12115559,pubmed:12792793,pubmed:1324794,pubmed:15363320,pubmed:16024113,pubmed:16061860,pubmed:16818855,pubmed:18025850,pubmed:21798897,pubmed:22573403,pubmed:23788652,cosmic_study:343,cosmic_study:414,cosmic_study:432,cosmic_study:527,cosmic_study:583,pubmed:7767998,pubmed:7845017,pubmed:8180387,pubmed:8407553,pubmed:8437842,pubmed:8617082,pubmed:9416838,pubmed:9655287 17p13.1 17 7673776G> C null R G 123 123 missense 0.989 probably damaging 0.02 deleterious 1 Squamous cell lung carcinoma ClinVar:RCV000432433 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation pubmed:14499690,pubmed:7585578,pubmed:7997263 17p13.1 17 7673775C> A null R L 123 123 missense 0.915 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000161038 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs730882008 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation pubmed:14499690,pubmed:7585578,pubmed:7997263 17p13.1 17 7673775C> A null R L 123 123 missense 0.915 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633381 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525209 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673773_7673776delinsC T null R null 124 124 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633386 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525170 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673763_7673772de l null R null 124 124 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000552974 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Adrenocortical carcinoma, hereditary (ADCC) MIM:202300 ClinVar:RCV000765397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Basal cell carcinoma, susceptibility to, 7 (BCC7) MIM:614740 ClinVar:RCV000765397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Carcinoma of colon (CRC) Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. pubmed:17060676,pubmed:19042984,pubmed:20301390,pubmed:22138009,pubmed:22855150,pubmed:23012255,pubmed:23429431,pubmed:23852704,pubmed:24996433,pubmed:25006736,pubmed:25373533,ClinVar:RCV000765397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Carcinoma of pancreas MIM:260350 pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV000765397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Choroid plexus papilloma (CPP) MIM:260500 ClinVar:RCV000765397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Glioma susceptibility 1 (GLM1) MIM:137800 ClinVar:RCV000765397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000765397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000115739 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000200641 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238755,ClinVar:RCV000765397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Nasopharyngeal carcinoma MIM:607107 ClinVar:RCV000765397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Neoplasm of stomach In a review article on the genetic predisposition to gastric cancer, Bevan and Houlston (1999) concluded that several genes may be associated with an increased risk of gastric cancer. MIM:613659 pubmed:23852704,ClinVar:RCV000148912 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: ovary, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Neoplasm of stomach, [Cosmic]: adrenal_gland, [ClinVar]: Adrenocortical carcinoma, hereditary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10693987,pubmed:11040944,pubmed:11391594,pubmed:11776043,pubmed:11929815,pubmed:16024113,pubmed:17289876,pubmed:17456604,pubmed:17727479,pubmed:21512767,pubmed:21533174,pubmed:23851445,pubmed:8110876,pubmed:8198984,pubmed:8934544,pubmed:9665415 17p13.1 17 7673773G> A null R C 124 124 missense 0.983 probably damaging 0.06 tolerated 1 Osteosarcoma MIM:259500 ClinVar:RCV000765397 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [Cosmic]: oesophagus pubmed:12167102,pubmed:18025850 17p13.1 17 7673773G> C null R G 124 124 missense 0.869 possibly damaging 0.03 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000703652 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs371409680 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Astrocytoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: cervix pubmed:11141476,pubmed:15674332,pubmed:16000567,pubmed:16596195,pubmed:17410283,pubmed:21409490,pubmed:21573592,pubmed:22493262,pubmed:9155557 17p13.1 17 7673772C> T null R H 124 124 missense 0.921 probably damaging 0.06 tolerated 1 Astrocytoma ClinVar:RCV000148904 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs371409680 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Astrocytoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: cervix pubmed:11141476,pubmed:15674332,pubmed:16000567,pubmed:16596195,pubmed:17410283,pubmed:21409490,pubmed:21573592,pubmed:22493262,pubmed:9155557 17p13.1 17 7673772C> T null R H 124 124 missense 0.921 probably damaging 0.06 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131388 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs371409680 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Astrocytoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: cervix pubmed:11141476,pubmed:15674332,pubmed:16000567,pubmed:16596195,pubmed:17410283,pubmed:21409490,pubmed:21573592,pubmed:22493262,pubmed:9155557 17p13.1 17 7673772C> T null R H 124 124 missense 0.921 probably damaging 0.06 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000457935 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs371409680 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Astrocytoma, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, [Cosmic]: cervix pubmed:11141476,pubmed:15674332,pubmed:16000567,pubmed:16596195,pubmed:17410283,pubmed:21409490,pubmed:21573592,pubmed:22493262,pubmed:9155557 17p13.1 17 7673772C> T null R H 124 124 missense 0.921 probably damaging 0.06 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000507738 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs371409680 cosmic curated [Cosmic]: breast, [Cosmic]: central_nervous_system, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: pancreas, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: lung pubmed:10089975,pubmed:10427138,pubmed:10690522,pubmed:11223675,pubmed:11704835,pubmed:11929815,pubmed:12649174,pubmed:1324794,pubmed:14687797,pubmed:15499621,pubmed:15523690,pubmed:15564288,pubmed:16061860,pubmed:17001163,pubmed:1979160,pubmed:21798897,pubmed:22980975,cosmic_study:343,cosmic_study:417,cosmic_study:418,cosmic_study:431,pubmed:7615358,pubmed:7992847,pubmed:8569192,pubmed:8866234 17p13.1 17 7673772C> G null R P 124 124 missense 0.957 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565161 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,ExAC,TOPMed,dbSNP,gnomAD rs149633775 cosmic curated [Cosmic]: stomach, [UniProt]: a sporadic cancer; somatic mutation pubmed:11819688 17p13.1 17 7673773G> T null R S 124 124 missense 0.399 benign 0.1 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs863224685 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11389059 17p13.1 17 7673769G> A null T I 125 125 missense 0.088 benign 0.02 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569733 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs863224685 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11389059 17p13.1 17 7673769G> A null T I 125 125 missense 0.088 benign 0.02 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000197045 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1204379654 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: stomach, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:12404284,pubmed:15073856,pubmed:15684603,pubmed:16059649,pubmed:17388661,cosmic_study:418,pubmed:8956789,pubmed:9886570 17p13.1 17 7673770T> G null T P 125 125 missense 0.782 possibly damaging 0.0 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1204379654 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673770T> A null T S 125 125 missense 0.201 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563243 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1204379654 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673770T> A null T S 125 125 missense 0.201 benign 0.13 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000546011 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs112431538 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: thyroid, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract pubmed:1459726,pubmed:1694291 pubmed:10095452,pubmed:10391558,pubmed:10427138,pubmed:10492244,pubmed:10567903,pubmed:10607740,pubmed:10675480,pubmed:10780666,pubmed:10901165,pubmed:11044641,pubmed:11152345,pubmed:11229518,pubmed:11241240,pubmed:11375957,pubmed:11391594,pubmed:11406645,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11857392,pubmed:12713560,pubmed:12807758,pubmed:12915879,pubmed:14767509,pubmed:14962108,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15254976,pubmed:15388813,pubmed:15499621,pubmed:15538112,pubmed:15643509,pubmed:15778432,pubmed:15915369,pubmed:15922892,pubmed:16000567,pubmed:16024113,pubmed:16052518,pubmed:16061860,pubmed:1682043,pubmed:17388661,pubmed:17638058,pubmed:18025850,pubmed:20668451,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21573592,pubmed:21822268,pubmed:21984974,pubmed:22495314,pubmed:22561517,pubmed:22561520,pubmed:22843894,pubmed:22941188,pubmed:23575477,pubmed:23851445,pubmed:23856246,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:338,cosmic_study:357,cosmic_study:376,cosmic_study:384,cosmic_study:396,cosmic_study:398,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:423,cosmic_study:435,cosmic_study:492,cosmic_study:504,cosmic_study:557,cosmic_study:581,pubmed:7585578,pubmed:7591300,pubmed:7628866,pubmed:7633655,pubmed:7767983,pubmed:7952630,pubmed:8020137,pubmed:8080737,pubmed:8102535,pubmed:8417784,pubmed:9264274,pubmed:9284834,pubmed:9431782,pubmed:9460999,pubmed:9512119,pubmed:9579565,pubmed:9761125,pubmed:9815649 17p13.1 17 7673767C> T null E K 126 126 missense 0.952 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492206 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs112431538 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: prostate, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: thyroid, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [Cosmic]: lung, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: adrenal_gland, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract pubmed:1459726,pubmed:1694291 pubmed:10095452,pubmed:10391558,pubmed:10427138,pubmed:10492244,pubmed:10567903,pubmed:10607740,pubmed:10675480,pubmed:10780666,pubmed:10901165,pubmed:11044641,pubmed:11152345,pubmed:11229518,pubmed:11241240,pubmed:11375957,pubmed:11391594,pubmed:11406645,pubmed:11704835,pubmed:11753042,pubmed:11801555,pubmed:11857392,pubmed:12713560,pubmed:12807758,pubmed:12915879,pubmed:14767509,pubmed:14962108,pubmed:15064998,pubmed:1516069,pubmed:15221786,pubmed:15254976,pubmed:15388813,pubmed:15499621,pubmed:15538112,pubmed:15643509,pubmed:15778432,pubmed:15915369,pubmed:15922892,pubmed:16000567,pubmed:16024113,pubmed:16052518,pubmed:16061860,pubmed:1682043,pubmed:17388661,pubmed:17638058,pubmed:18025850,pubmed:20668451,pubmed:21512767,pubmed:21533174,pubmed:21559688,pubmed:21573592,pubmed:21822268,pubmed:21984974,pubmed:22495314,pubmed:22561517,pubmed:22561520,pubmed:22843894,pubmed:22941188,pubmed:23575477,pubmed:23851445,pubmed:23856246,pubmed:24121792,cosmic_study:323,cosmic_study:328,cosmic_study:338,cosmic_study:357,cosmic_study:376,cosmic_study:384,cosmic_study:396,cosmic_study:398,cosmic_study:409,cosmic_study:413,cosmic_study:414,cosmic_study:417,cosmic_study:423,cosmic_study:435,cosmic_study:492,cosmic_study:504,cosmic_study:557,cosmic_study:581,pubmed:7585578,pubmed:7591300,pubmed:7628866,pubmed:7633655,pubmed:7767983,pubmed:7952630,pubmed:8020137,pubmed:8080737,pubmed:8102535,pubmed:8417784,pubmed:9264274,pubmed:9284834,pubmed:9431782,pubmed:9460999,pubmed:9512119,pubmed:9579565,pubmed:9761125,pubmed:9815649 17p13.1 17 7673767C> T null E K 126 126 missense 0.952 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633365 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912667 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: soft_tissue, [ClinVar]: Adrenocortical carcinoma, pediatric, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Choroid plexus carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract pubmed:12001123,pubmed:15499621,pubmed:17437012,pubmed:17727479,pubmed:18762572,pubmed:18948947,pubmed:21822264,pubmed:24185509,cosmic_study:341,cosmic_study:352,cosmic_study:553,cosmic_study:583,pubmed:7923211,pubmed:8093978,pubmed:8407553,pubmed:8631591 17p13.1 17 7673766T> A null E V 126 126 missense 0.935 probably damaging 0.0 deleterious 1 Adrenocortical carcinoma, pediatric ClinVar:RCV000013184 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912667 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: soft_tissue, [ClinVar]: Adrenocortical carcinoma, pediatric, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Choroid plexus carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract pubmed:12001123,pubmed:15499621,pubmed:17437012,pubmed:17727479,pubmed:18762572,pubmed:18948947,pubmed:21822264,pubmed:24185509,cosmic_study:341,cosmic_study:352,cosmic_study:553,cosmic_study:583,pubmed:7923211,pubmed:8093978,pubmed:8407553,pubmed:8631591 17p13.1 17 7673766T> A null E V 126 126 missense 0.935 probably damaging 0.0 deleterious 1 Choroid plexus carcinoma (CPC) pubmed:24493721,ClinVar:RCV000013185 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,dbSNP,gnomAD rs121912667 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: soft_tissue, [ClinVar]: Adrenocortical carcinoma, pediatric, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Choroid plexus carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: upper_aerodigestive_tract pubmed:12001123,pubmed:15499621,pubmed:17437012,pubmed:17727479,pubmed:18762572,pubmed:18948947,pubmed:21822264,pubmed:24185509,cosmic_study:341,cosmic_study:352,cosmic_study:553,cosmic_study:583,pubmed:7923211,pubmed:8093978,pubmed:8407553,pubmed:8631591 17p13.1 17 7673766T> A null E V 126 126 missense 0.935 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000813961 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [Cosmic]: vulva, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: liver, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:10735894,pubmed:10850436,pubmed:11241240,pubmed:15017592,pubmed:15221786,pubmed:15308588,pubmed:15499621,pubmed:21559688,pubmed:22941188,pubmed:22941189,cosmic_study:417,cosmic_study:423,cosmic_study:424,pubmed:7997263,pubmed:8241511,pubmed:8261444,pubmed:8467510,pubmed:8995554 17p13.1 17 7673764C> A null E * 127 127 missense 1 Ovarian Neoplasms ClinVar:RCV000785476 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000423414 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000439537 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000437905 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000424971 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000419358 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000434375 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000421888 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000433092 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000421331 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000443500 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000427672 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000443287 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:11044641,cosmic_study:414 17p13.1 17 7673763T> G null E A 127 127 missense 0.969 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000431576 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000439864 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000432174 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000421308 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000442747 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000556558 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000429960 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000421511 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000443562 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000438516 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000426176 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000439628 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000434654 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000419110 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of the breast, [ClinVar]: Neoplasm of brain, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [Cosmic]: stomach, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11044641,pubmed:11185887,pubmed:11801559,pubmed:12167102,pubmed:12890146,pubmed:1312896,pubmed:16322298,pubmed:17699855,pubmed:1945416,pubmed:22810696,cosmic_study:375,cosmic_study:377,cosmic_study:583,pubmed:7628866,pubmed:7704244,pubmed:7909871,pubmed:8645583 17p13.1 17 7673763T> C null E G 127 127 missense 0.986 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000428935 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000422231 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000426778 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000421987 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000427820 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000162466 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000466372 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000443492 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000431848 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000432936 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000437639 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000424388 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000443333 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000419251 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000439250 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000420427 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs786201059 cosmic curated [ClinVar]: Malignant melanoma of skin, [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [ClinVar]: Vulvar adenocarcinoma of mammary gland type, [ClinVar]: Adenocarcinoma of stomach, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [ClinVar]: Carcinoma of esophagus, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: central_nervous_system, [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract pubmed:11023613,pubmed:8316628 pubmed:10091733,pubmed:10427138,pubmed:10492244,pubmed:10499619,pubmed:10675480,pubmed:10735894,pubmed:10830574,pubmed:11306496,pubmed:11388392,pubmed:11590071,pubmed:11704866,pubmed:11801559,pubmed:11929815,pubmed:11960918,pubmed:12649174,pubmed:12713560,pubmed:12807758,pubmed:1332921,pubmed:15446583,pubmed:15523690,pubmed:15564288,pubmed:15656799,pubmed:15915369,pubmed:16061860,pubmed:17417968,pubmed:18070208,pubmed:1946433,pubmed:21103049,pubmed:21533174,pubmed:21559688,pubmed:21720365,pubmed:21798897,pubmed:21984974,pubmed:22722201,pubmed:22842228,pubmed:22877736,pubmed:22891273,pubmed:23407552,pubmed:23575477,pubmed:23619168,pubmed:23700467,pubmed:24077944,pubmed:24292195,cosmic_study:323,cosmic_study:331,cosmic_study:343,cosmic_study:357,cosmic_study:375,cosmic_study:385,cosmic_study:414,cosmic_study:448,cosmic_study:457,cosmic_study:485,cosmic_study:492,cosmic_study:511,cosmic_study:561,cosmic_study:563,cosmic_study:582,cosmic_study:585,pubmed:7598762,pubmed:7756655,pubmed:8182933,pubmed:8240361,pubmed:8417784,pubmed:8496613,pubmed:8664051,pubmed:8688317,pubmed:8707401,pubmed:9113074,pubmed:9416838,pubmed:9445137,pubmed:9466649,pubmed:9683299 17p13.1 17 7673764C> T null E K 127 127 missense 0.98 probably damaging 0.0 deleterious 1 Vulvar adenocarcinoma of mammary gland type ClinVar:RCV000506006 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000423598 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000428400 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000428433 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000441497 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001048274 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000418557 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000425968 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000442043 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000441313 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000435596 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000435774 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000436841 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000433190 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs786201059 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: large_intestine, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: eye, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: urinary_tract, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [ClinVar]: Carcinoma of esophagus pubmed:8829627 pubmed:11275993,pubmed:11801555,pubmed:15682042,cosmic_study:414,pubmed:9635683,pubmed:9639416 17p13.1 17 7673764C> G null E Q 127 127 missense 0.97 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000422952 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000420631 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Adenocarcinoma of stomach ClinVar:RCV000436172 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Carcinoma of esophagus ClinVar:RCV000417903 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Hepatocellular carcinoma (HCC) MIM:114550 ClinVar:RCV000435554 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Lung adenocarcinoma pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000440264 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Malignant melanoma of skin (CMM) Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. MIM:PS155600 pubmed:24493721,ClinVar:RCV000443104 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Neoplasm of brain ClinVar:RCV000438282 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000423140 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000430027 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Ovarian Serous Cystadenocarcinoma ClinVar:RCV000425922 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Pancreatic adenocarcinoma ClinVar:RCV000424403 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Small cell lung cancer MIM:182280 ClinVar:RCV000443133 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057519985 NCI-TCGA Cosmic [ClinVar]: Malignant melanoma of skin, [ClinVar]: Acute myeloid leukemia, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: soft_tissue, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Neoplasm of the breast, [ClinVar]: Pancreatic adenocarcinoma, [ClinVar]: Neoplasm of brain, [ClinVar]: Small cell lung cancer, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: liver, [ClinVar]: Carcinoma of esophagus pubmed:10653866,pubmed:11375957,pubmed:11595686,pubmed:12001123,pubmed:17488404,pubmed:22493262,pubmed:22561517,cosmic_study:396,pubmed:9185695 17p13.1 17 7673763T> A null E V 127 127 missense 0.956 probably damaging 0.0 deleterious 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000430739 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs748891343 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:8934544,pubmed:9781942 17p13.1 17 7673759C> G null E D 128 128 missense 0.356 benign 0.77 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568299 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs748891343 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:8934544,pubmed:9781942 17p13.1 17 7673759C> G null E D 128 128 missense 0.356 benign 0.77 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001214612 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587782006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation pubmed:10706127,pubmed:10802655,pubmed:11299797,pubmed:16061860,pubmed:8407553,pubmed:9349508 17p13.1 17 7673761C> T null E K 128 128 missense 0.06 benign 0.37 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130426 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587782006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: stomach, [Cosmic]: skin, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation pubmed:10706127,pubmed:10802655,pubmed:11299797,pubmed:16061860,pubmed:8407553,pubmed:9349508 17p13.1 17 7673761C> T null E K 128 128 missense 0.06 benign 0.37 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000813960 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525156 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673772_7673773insCTTCTCTTCCTCTGTG C null N null 129 129 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571294 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525158 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673759_7673760CT[3 ] null N null 129 129 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564408 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525154 NCI-TCGA Cosmic [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17p13.1 17 7673755G> A null L F 130 130 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001018140 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525154 cosmic curated [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:20668451,cosmic_study:338 17p13.1 17 7673755G> C null L V 130 130 missense 0.0 benign 0.03 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597360991 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673754_7673773du p null R null 131 131 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000805182 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs770374782 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thyroid, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:14767509,pubmed:22817889,pubmed:24423316,cosmic_study:444,pubmed:8338955,pubmed:8747596 17p13.1 17 7673752G> A null R C 131 131 missense 0.445 benign 0.0 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492120 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs770374782 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: thyroid, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:14767509,pubmed:22817889,pubmed:24423316,cosmic_study:444,pubmed:8338955,pubmed:8747596 17p13.1 17 7673752G> A null R C 131 131 missense 0.445 benign 0.0 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000198910 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs770374782 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673752G> C null R G 131 131 missense 0.066 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773647 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55819519 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10029095,pubmed:10070891,pubmed:10348818,pubmed:10809848,pubmed:1390233,pubmed:14719105,pubmed:16532037,pubmed:17699855,pubmed:21533174,pubmed:21573561,cosmic_study:376,pubmed:8312582,pubmed:8912828 17p13.1 17 7673751C> T null R H 131 131 2.0E-4 missense 0.0 benign 0.41 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000115740 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55819519 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10029095,pubmed:10070891,pubmed:10348818,pubmed:10809848,pubmed:1390233,pubmed:14719105,pubmed:16532037,pubmed:17699855,pubmed:21533174,pubmed:21573561,cosmic_study:376,pubmed:8312582,pubmed:8912828 17p13.1 17 7673751C> T null R H 131 131 2.0E-4 missense 0.0 benign 0.41 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000148914 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55819519 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10029095,pubmed:10070891,pubmed:10348818,pubmed:10809848,pubmed:1390233,pubmed:14719105,pubmed:16532037,pubmed:17699855,pubmed:21533174,pubmed:21573561,cosmic_study:376,pubmed:8312582,pubmed:8912828 17p13.1 17 7673751C> T null R H 131 131 2.0E-4 missense 0.0 benign 0.41 tolerated 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55819519 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10029095,pubmed:10070891,pubmed:10348818,pubmed:10809848,pubmed:1390233,pubmed:14719105,pubmed:16532037,pubmed:17699855,pubmed:21533174,pubmed:21573561,cosmic_study:376,pubmed:8312582,pubmed:8912828 17p13.1 17 7673751C> T null R H 131 131 2.0E-4 missense 0.0 benign 0.41 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000620742 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55819519 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: stomach, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10029095,pubmed:10070891,pubmed:10348818,pubmed:10809848,pubmed:1390233,pubmed:14719105,pubmed:16532037,pubmed:17699855,pubmed:21533174,pubmed:21573561,cosmic_study:376,pubmed:8312582,pubmed:8912828 17p13.1 17 7673751C> T null R H 131 131 2.0E-4 missense 0.0 benign 0.41 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000989708 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55819519 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: vulva, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary pubmed:11329143,pubmed:14580680,pubmed:8995554,pubmed:9792155 17p13.1 17 7673751C> A null R L 131 131 2.0E-4 missense 0.0 benign 0.06 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001018200 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55819519 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: vulva, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [Cosmic]: ovary pubmed:11329143,pubmed:14580680,pubmed:8995554,pubmed:9792155 17p13.1 17 7673751C> A null R L 131 131 2.0E-4 missense 0.0 benign 0.06 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001210557 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55819519 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673751C> G null R P 131 131 2.0E-4 missense 0.012 benign 0.01 deleterious 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000535005 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525140 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673750du p null K null 132 132 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000545094 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525126 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10564951,pubmed:9416838 17p13.1 17 7673749T> C null K E 132 132 missense 0.909 probably damaging 0.21 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575139 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525126 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: biliary_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10564951,pubmed:9416838 17p13.1 17 7673749T> C null K E 132 132 missense 0.909 probably damaging 0.21 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000806261 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,dbSNP rs372613518 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation pubmed:10901165,pubmed:15538112,pubmed:9554525 17p13.1 17 7673747C> G null K N 132 132 missense 0.986 probably damaging 0.06 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774787 A0A087WT22 TP53 Cellular tumor antigen p53 ESP,dbSNP rs372613518 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation pubmed:10901165,pubmed:15538112,pubmed:9554525 17p13.1 17 7673747C> G null K N 132 132 missense 0.986 probably damaging 0.06 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000820689 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501205 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673749_7673750delinsG T null K Q 132 132 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000471030 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs781490101 cosmic curated [Cosmic]: central_nervous_system, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10582680,pubmed:8240361,pubmed:9231161 17p13.1 17 7673748T> C null K R 132 132 missense 0.696 possibly damaging 0.06 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs121912663 [ClinVar]: Li-Fraumeni syndrome 1, [UniProt]: germline mutation and in a sporadic cancer; somatic mutation, [Ensembl]: Li-fraumeni syndrome 1 (lfs1) pubmed:10484981 pubmed:10484981 17p13.1 17 7673745T> A null K I 133 133 missense 0.178 benign 0.01 deleterious 0 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs121912663 [ClinVar]: Li-Fraumeni syndrome 1, [UniProt]: germline mutation and in a sporadic cancer; somatic mutation, [Ensembl]: Li-fraumeni syndrome 1 (lfs1) pubmed:10484981 pubmed:10484981 17p13.1 17 7673745T> A null K I 133 133 missense 0.178 benign 0.01 deleterious 0 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000013177 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs121912663 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation pubmed:7841033,pubmed:8028358,pubmed:8097076,pubmed:8408453,pubmed:9036876 17p13.1 17 7673745T> C null K R 133 133 missense 0.0 benign 0.16 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573281 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs121912663 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: stomach, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Ensembl]: Li-fraumeni syndrome 1 (lfs1), [Cosmic]: cervix, [UniProt]: sporadic cancers; somatic mutation pubmed:7841033,pubmed:8028358,pubmed:8097076,pubmed:8408453,pubmed:9036876 17p13.1 17 7673745T> C null K R 133 133 missense 0.0 benign 0.16 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000457955 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587780076 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: thyroid, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:11801555,pubmed:16229746,pubmed:16459017,pubmed:24423316,pubmed:8542583 17p13.1 17 7673743C> T null G R 134 134 missense 0.234 benign 0.5 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219408 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587780076 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: thyroid, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:11801555,pubmed:16229746,pubmed:16459017,pubmed:24423316,pubmed:8542583 17p13.1 17 7673743C> T null G R 134 134 missense 0.234 benign 0.5 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001052713 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587780076 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation pubmed:15924253 17p13.1 17 7673743C> A null G W 134 134 missense 0.899 possibly damaging 0.11 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000115741 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587780076 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation pubmed:15924253 17p13.1 17 7673743C> A null G W 134 134 missense 0.899 possibly damaging 0.11 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000462367 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs587780076 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation pubmed:15924253 17p13.1 17 7673743C> A null G W 134 134 missense 0.899 possibly damaging 0.11 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000410614 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1057520607 cosmic curated [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: soft_tissue, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: pancreas, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: vulva, [Cosmic]: skin, [Cosmic]: urinary_tract, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10706127,pubmed:10754498,pubmed:11044641,pubmed:11308256,pubmed:11325447,pubmed:11929815,pubmed:12176791,pubmed:15523690,pubmed:15564288,pubmed:15837541,pubmed:16024113,pubmed:16322298,pubmed:17573896,pubmed:17692090,pubmed:21533174,pubmed:21665242,pubmed:21720365,pubmed:21798893,pubmed:22493262,pubmed:22561517,pubmed:22607702,pubmed:22722201,pubmed:22941188,pubmed:22980975,pubmed:23103869,cosmic_study:328,cosmic_study:331,cosmic_study:349,cosmic_study:385,cosmic_study:396,cosmic_study:414,cosmic_study:417,cosmic_study:423,cosmic_study:431,cosmic_study:436,cosmic_study:585,pubmed:7549812,pubmed:7615358,pubmed:7767998,pubmed:8100480,pubmed:8242638,pubmed:8402617,pubmed:8483937,pubmed:8617483,pubmed:9036877,pubmed:9139870,pubmed:9761125 17p13.1 17 7673740C> A null E * 135 135 missense 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1305324490 cosmic curated [Cosmic]: soft_tissue, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:14618621,pubmed:16538442 17p13.1 17 7673738C> G null E D 135 135 missense 0.007 benign 0.19 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs751713111 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: stomach, [Cosmic]: placenta, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:7955057,pubmed:9121123,pubmed:9349508 17p13.1 17 7673736G> A null P L 136 136 missense 0.118 benign 0.2 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774786 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs751713111 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: stomach, [Cosmic]: placenta, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:7955057,pubmed:9121123,pubmed:9349508 17p13.1 17 7673736G> A null P L 136 136 missense 0.118 benign 0.2 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633374 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs751713111 cosmic curated [Cosmic]: large_intestine, [UniProt]: a sporadic cancer; somatic mutation pubmed:11275993 17p13.1 17 7673736G> C null P R 136 136 missense 0.209 benign 0.16 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1131691006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10091733,pubmed:8267380 17p13.1 17 7673737G> A null P S 136 136 missense 0.003 benign 0.32 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492128 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1131691006 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:10091733,pubmed:8267380 17p13.1 17 7673737G> A null P S 136 136 missense 0.003 benign 0.32 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000991138 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567547030 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7673728_7673732de l null H null 137 137 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785495 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs483352696 cosmic curated [Cosmic]: breast, [UniProt]: a sporadic cancer; somatic mutation pubmed:7917542 17p13.1 17 7673733T> C null H R 137 137 missense 0.015 benign 0.53 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs672601296 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: liver, [ClinVar]: Sarcoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11282486,pubmed:11306496,pubmed:8142008,pubmed:9395180 17p13.1 17 7673734G> A null H Y 137 137 missense 0.049 benign 0.04 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774785 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs672601296 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: liver, [ClinVar]: Sarcoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11282486,pubmed:11306496,pubmed:8142008,pubmed:9395180 17p13.1 17 7673734G> A null H Y 137 137 missense 0.049 benign 0.04 deleterious 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633378 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs672601296 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: liver, [ClinVar]: Sarcoma, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:11282486,pubmed:11306496,pubmed:8142008,pubmed:9395180 17p13.1 17 7673734G> A null H Y 137 137 missense 0.049 benign 0.04 deleterious 1 Sarcoma (Liposarcoma) ClinVar:RCV000119375 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs750578863 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673729G> T null H Q 138 138 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000817167 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659477 [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7673730T> C null H R 138 138 missense 0.027 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214757 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201744589 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10675478,pubmed:10735894,pubmed:10830574,pubmed:11244334,pubmed:11325447,pubmed:11801555,pubmed:11929815,pubmed:12649174,pubmed:12792793,pubmed:12807758,pubmed:14739043,pubmed:15099937,pubmed:15564288,pubmed:16024113,pubmed:17456604,pubmed:17488404,pubmed:18948947,pubmed:2024123,pubmed:21070477,pubmed:21533174,pubmed:21665242,pubmed:21798893,pubmed:22705117,pubmed:22877736,pubmed:22941188,pubmed:23607916,pubmed:23619168,pubmed:23907151,cosmic_study:341,cosmic_study:349,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:448,cosmic_study:561,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:8033152,pubmed:8093350,pubmed:8137263,pubmed:8402617,pubmed:8625484,pubmed:8980360,pubmed:9012469,pubmed:9138659 17p13.1 17 7673728C> A null E * 139 139 2.0E-4 missense 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216964 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201744589 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10675478,pubmed:10735894,pubmed:10830574,pubmed:11244334,pubmed:11325447,pubmed:11801555,pubmed:11929815,pubmed:12649174,pubmed:12792793,pubmed:12807758,pubmed:14739043,pubmed:15099937,pubmed:15564288,pubmed:16024113,pubmed:17456604,pubmed:17488404,pubmed:18948947,pubmed:2024123,pubmed:21070477,pubmed:21533174,pubmed:21665242,pubmed:21798893,pubmed:22705117,pubmed:22877736,pubmed:22941188,pubmed:23607916,pubmed:23619168,pubmed:23907151,cosmic_study:341,cosmic_study:349,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:448,cosmic_study:561,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:8033152,pubmed:8093350,pubmed:8137263,pubmed:8402617,pubmed:8625484,pubmed:8980360,pubmed:9012469,pubmed:9138659 17p13.1 17 7673728C> A null E * 139 139 2.0E-4 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000559898 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201744589 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Ovarian Neoplasms, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary, [Cosmic]: salivary_gland, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10675478,pubmed:10735894,pubmed:10830574,pubmed:11244334,pubmed:11325447,pubmed:11801555,pubmed:11929815,pubmed:12649174,pubmed:12792793,pubmed:12807758,pubmed:14739043,pubmed:15099937,pubmed:15564288,pubmed:16024113,pubmed:17456604,pubmed:17488404,pubmed:18948947,pubmed:2024123,pubmed:21070477,pubmed:21533174,pubmed:21665242,pubmed:21798893,pubmed:22705117,pubmed:22877736,pubmed:22941188,pubmed:23607916,pubmed:23619168,pubmed:23907151,cosmic_study:341,cosmic_study:349,cosmic_study:417,cosmic_study:418,cosmic_study:423,cosmic_study:448,cosmic_study:561,cosmic_study:582,cosmic_study:583,pubmed:7767998,pubmed:8033152,pubmed:8093350,pubmed:8137263,pubmed:8402617,pubmed:8625484,pubmed:8980360,pubmed:9012469,pubmed:9138659 17p13.1 17 7673728C> A null E * 139 139 2.0E-4 missense 1 Ovarian Neoplasms ClinVar:RCV000785528 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201744589 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:16596195 17p13.1 17 7673728C> T null E K 139 139 2.0E-4 missense 0.0 benign 0.29 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130033 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201744589 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:16596195 17p13.1 17 7673728C> T null E K 139 139 2.0E-4 missense 0.0 benign 0.29 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000206802 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201744589 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:16596195 17p13.1 17 7673728C> T null E K 139 139 2.0E-4 missense 0.0 benign 0.29 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411322 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs201744589 cosmic curated [Cosmic]: breast, [UniProt]: sporadic cancers; somatic mutation pubmed:16818855 17p13.1 17 7673728C> G null E Q 139 139 2.0E-4 missense 0.001 benign 0.2 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555525054 17p13.1 17 7673715_7673728de l null L null 140 140 frameshift 0 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs909643864 cosmic curated [Cosmic]: stomach, [Cosmic]: endometrium, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:15257314,pubmed:15644779,pubmed:16174251,pubmed:7704244,pubmed:9677462 17p13.1 17 7673721G> A null P L 141 141 missense 0.417 benign 0.01 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs876660726 [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Lip and oral cavity carcinoma 17p13.1 17 7673722de l null P null 142 142 frameshift 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219373 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs876660726 [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Lip and oral cavity carcinoma 17p13.1 17 7673722de l null P null 142 142 frameshift 1 Lip and oral cavity carcinoma ClinVar:RCV001255679 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525067 cosmic curated [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation pubmed:7957118 17p13.1 17 7673718G> A null P L 142 142 missense 0.014 benign 0.03 deleterious 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574619 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs876660726 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673721_7673722du p null G null 143 143 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000806178 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501202 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [UniProt]: sporadic cancers; somatic mutation pubmed:10391558,pubmed:11306496,pubmed:11923604 17p13.1 17 7673715C> T null G E 143 143 missense 0.01 benign 0.1 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001018766 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501202 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [UniProt]: sporadic cancers; somatic mutation pubmed:10391558,pubmed:11306496,pubmed:11923604 17p13.1 17 7673715C> T null G E 143 143 missense 0.01 benign 0.1 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000468864 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs863224686 [ClinVar]: Li-Fraumeni syndrome, [UniProt]: a sporadic cancer; somatic mutation 17p13.1 17 7673716C> G null G R 143 143 missense 0.006 benign 0.11 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000197011 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs786202055 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673716de l null S null 144 144 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164675 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567546889 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7673712_7673713insCCC C null S null 144 144 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785534 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs587782391 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673713T> C null S G 144 144 missense 0.712 possibly damaging 0.25 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131400 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs587782391 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673713T> C null S G 144 144 missense 0.712 possibly damaging 0.25 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000549010 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658714 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation pubmed:10391558,pubmed:7882357,pubmed:8542583 17p13.1 17 7673712C> T null S N 144 144 missense 0.79 possibly damaging 0.21 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218916 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876658714 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation pubmed:10391558,pubmed:7882357,pubmed:8542583 17p13.1 17 7673712C> T null S N 144 144 missense 0.79 possibly damaging 0.21 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000700080 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587782654 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:8645583 17p13.1 17 7673710T> C null T A 145 145 missense 0.0 benign 0.39 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132069 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs587782654 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:8645583 17p13.1 17 7673710T> C null T A 145 145 missense 0.0 benign 0.39 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001050775 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597360340 NCI-TCGA Cosmic [ClinVar]: Hereditary cancer-predisposing syndrome, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 17p13.1 17 7673707T> A null K * 146 146 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001018912 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567546818 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673708du p null K * 146 146 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776787 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597360326 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673704_7673711du p null R null 147 147 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001018826 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121913344 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [ClinVar]: Head and Neck Neoplasms, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10225439,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10962865,cosmic_study:11,pubmed:11029509,pubmed:11037343,pubmed:11229518,pubmed:11275993,pubmed:11306496,pubmed:11329143,pubmed:11388392,pubmed:11801559,pubmed:11929815,pubmed:12115559,pubmed:12209590,pubmed:12439172,pubmed:12509970,pubmed:12635658,pubmed:12673679,pubmed:12807758,cosmic_study:13,pubmed:14688025,pubmed:14697642,pubmed:15017592,pubmed:15057748,pubmed:15064998,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15523690,pubmed:15564288,pubmed:15674332,pubmed:15778432,pubmed:15956964,pubmed:16024113,pubmed:16229746,pubmed:16271749,pubmed:16847456,pubmed:16959974,pubmed:17692090,pubmed:17849424,pubmed:18772397,pubmed:20668451,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21720365,pubmed:21798897,pubmed:21901162,pubmed:22037554,pubmed:22138691,pubmed:22286061,pubmed:22495314,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22723903,pubmed:22810696,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22975805,pubmed:23525077,pubmed:23700467,pubmed:23852799,pubmed:23856246,pubmed:24121792,pubmed:24190505,pubmed:24604757,pubmed:24797764,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:395,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:448,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:504,cosmic_study:518,cosmic_study:557,cosmic_study:581,pubmed:8180965,pubmed:8194706,pubmed:8473053,pubmed:8630996,pubmed:8645583,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9052405,pubmed:9367066,pubmed:9413950,pubmed:9450901,pubmed:9460999,pubmed:9537240,pubmed:9788444,pubmed:9823556 17p13.1 17 7673704G> A null R * 147 147 missense 1 Head and Neck Neoplasms ClinVar:RCV000422102 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121913344 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [ClinVar]: Head and Neck Neoplasms, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10225439,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10962865,cosmic_study:11,pubmed:11029509,pubmed:11037343,pubmed:11229518,pubmed:11275993,pubmed:11306496,pubmed:11329143,pubmed:11388392,pubmed:11801559,pubmed:11929815,pubmed:12115559,pubmed:12209590,pubmed:12439172,pubmed:12509970,pubmed:12635658,pubmed:12673679,pubmed:12807758,cosmic_study:13,pubmed:14688025,pubmed:14697642,pubmed:15017592,pubmed:15057748,pubmed:15064998,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15523690,pubmed:15564288,pubmed:15674332,pubmed:15778432,pubmed:15956964,pubmed:16024113,pubmed:16229746,pubmed:16271749,pubmed:16847456,pubmed:16959974,pubmed:17692090,pubmed:17849424,pubmed:18772397,pubmed:20668451,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21720365,pubmed:21798897,pubmed:21901162,pubmed:22037554,pubmed:22138691,pubmed:22286061,pubmed:22495314,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22723903,pubmed:22810696,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22975805,pubmed:23525077,pubmed:23700467,pubmed:23852799,pubmed:23856246,pubmed:24121792,pubmed:24190505,pubmed:24604757,pubmed:24797764,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:395,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:448,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:504,cosmic_study:518,cosmic_study:557,cosmic_study:581,pubmed:8180965,pubmed:8194706,pubmed:8473053,pubmed:8630996,pubmed:8645583,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9052405,pubmed:9367066,pubmed:9413950,pubmed:9450901,pubmed:9460999,pubmed:9537240,pubmed:9788444,pubmed:9823556 17p13.1 17 7673704G> A null R * 147 147 missense 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130997 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121913344 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [ClinVar]: Head and Neck Neoplasms, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10225439,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10962865,cosmic_study:11,pubmed:11029509,pubmed:11037343,pubmed:11229518,pubmed:11275993,pubmed:11306496,pubmed:11329143,pubmed:11388392,pubmed:11801559,pubmed:11929815,pubmed:12115559,pubmed:12209590,pubmed:12439172,pubmed:12509970,pubmed:12635658,pubmed:12673679,pubmed:12807758,cosmic_study:13,pubmed:14688025,pubmed:14697642,pubmed:15017592,pubmed:15057748,pubmed:15064998,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15523690,pubmed:15564288,pubmed:15674332,pubmed:15778432,pubmed:15956964,pubmed:16024113,pubmed:16229746,pubmed:16271749,pubmed:16847456,pubmed:16959974,pubmed:17692090,pubmed:17849424,pubmed:18772397,pubmed:20668451,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21720365,pubmed:21798897,pubmed:21901162,pubmed:22037554,pubmed:22138691,pubmed:22286061,pubmed:22495314,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22723903,pubmed:22810696,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22975805,pubmed:23525077,pubmed:23700467,pubmed:23852799,pubmed:23856246,pubmed:24121792,pubmed:24190505,pubmed:24604757,pubmed:24797764,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:395,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:448,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:504,cosmic_study:518,cosmic_study:557,cosmic_study:581,pubmed:8180965,pubmed:8194706,pubmed:8473053,pubmed:8630996,pubmed:8645583,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9052405,pubmed:9367066,pubmed:9413950,pubmed:9450901,pubmed:9460999,pubmed:9537240,pubmed:9788444,pubmed:9823556 17p13.1 17 7673704G> A null R * 147 147 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000232963 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121913344 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [ClinVar]: Head and Neck Neoplasms, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10225439,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10962865,cosmic_study:11,pubmed:11029509,pubmed:11037343,pubmed:11229518,pubmed:11275993,pubmed:11306496,pubmed:11329143,pubmed:11388392,pubmed:11801559,pubmed:11929815,pubmed:12115559,pubmed:12209590,pubmed:12439172,pubmed:12509970,pubmed:12635658,pubmed:12673679,pubmed:12807758,cosmic_study:13,pubmed:14688025,pubmed:14697642,pubmed:15017592,pubmed:15057748,pubmed:15064998,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15523690,pubmed:15564288,pubmed:15674332,pubmed:15778432,pubmed:15956964,pubmed:16024113,pubmed:16229746,pubmed:16271749,pubmed:16847456,pubmed:16959974,pubmed:17692090,pubmed:17849424,pubmed:18772397,pubmed:20668451,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21720365,pubmed:21798897,pubmed:21901162,pubmed:22037554,pubmed:22138691,pubmed:22286061,pubmed:22495314,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22723903,pubmed:22810696,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22975805,pubmed:23525077,pubmed:23700467,pubmed:23852799,pubmed:23856246,pubmed:24121792,pubmed:24190505,pubmed:24604757,pubmed:24797764,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:395,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:448,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:504,cosmic_study:518,cosmic_study:557,cosmic_study:581,pubmed:8180965,pubmed:8194706,pubmed:8473053,pubmed:8630996,pubmed:8645583,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9052405,pubmed:9367066,pubmed:9413950,pubmed:9450901,pubmed:9460999,pubmed:9537240,pubmed:9788444,pubmed:9823556 17p13.1 17 7673704G> A null R * 147 147 missense 1 Lip and oral cavity carcinoma ClinVar:RCV001255680 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121913344 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [ClinVar]: Head and Neck Neoplasms, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10225439,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10962865,cosmic_study:11,pubmed:11029509,pubmed:11037343,pubmed:11229518,pubmed:11275993,pubmed:11306496,pubmed:11329143,pubmed:11388392,pubmed:11801559,pubmed:11929815,pubmed:12115559,pubmed:12209590,pubmed:12439172,pubmed:12509970,pubmed:12635658,pubmed:12673679,pubmed:12807758,cosmic_study:13,pubmed:14688025,pubmed:14697642,pubmed:15017592,pubmed:15057748,pubmed:15064998,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15523690,pubmed:15564288,pubmed:15674332,pubmed:15778432,pubmed:15956964,pubmed:16024113,pubmed:16229746,pubmed:16271749,pubmed:16847456,pubmed:16959974,pubmed:17692090,pubmed:17849424,pubmed:18772397,pubmed:20668451,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21720365,pubmed:21798897,pubmed:21901162,pubmed:22037554,pubmed:22138691,pubmed:22286061,pubmed:22495314,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22723903,pubmed:22810696,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22975805,pubmed:23525077,pubmed:23700467,pubmed:23852799,pubmed:23856246,pubmed:24121792,pubmed:24190505,pubmed:24604757,pubmed:24797764,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:395,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:448,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:504,cosmic_study:518,cosmic_study:557,cosmic_study:581,pubmed:8180965,pubmed:8194706,pubmed:8473053,pubmed:8630996,pubmed:8645583,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9052405,pubmed:9367066,pubmed:9413950,pubmed:9450901,pubmed:9460999,pubmed:9537240,pubmed:9788444,pubmed:9823556 17p13.1 17 7673704G> A null R * 147 147 missense 1 Neoplasm of the large intestine pubmed:23012255,ClinVar:RCV000428901 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,NCI-TCGA,dbSNP rs121913344 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: ovary, [Cosmic]: lung, [ClinVar]: Head and Neck Neoplasms, [Cosmic]: bone, [Cosmic]: endometrium, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: biliary_tract, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Ovarian Neoplasms, [ClinVar]: Neoplasm of the large intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: kidney, [Cosmic]: small_intestine, [Cosmic]: stomach, [Cosmic]: central_nervous_system, [ClinVar]: Lip and oral cavity carcinoma, [Cosmic]: NS, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10225439,pubmed:10427138,pubmed:10519384,pubmed:10567903,pubmed:10589767,pubmed:10962865,cosmic_study:11,pubmed:11029509,pubmed:11037343,pubmed:11229518,pubmed:11275993,pubmed:11306496,pubmed:11329143,pubmed:11388392,pubmed:11801559,pubmed:11929815,pubmed:12115559,pubmed:12209590,pubmed:12439172,pubmed:12509970,pubmed:12635658,pubmed:12673679,pubmed:12807758,cosmic_study:13,pubmed:14688025,pubmed:14697642,pubmed:15017592,pubmed:15057748,pubmed:15064998,pubmed:15138567,pubmed:15161705,pubmed:15221786,pubmed:15523690,pubmed:15564288,pubmed:15674332,pubmed:15778432,pubmed:15956964,pubmed:16024113,pubmed:16229746,pubmed:16271749,pubmed:16847456,pubmed:16959974,pubmed:17692090,pubmed:17849424,pubmed:18772397,pubmed:20668451,pubmed:21103049,pubmed:21380628,pubmed:21512767,pubmed:21720365,pubmed:21798897,pubmed:21901162,pubmed:22037554,pubmed:22138691,pubmed:22286061,pubmed:22495314,pubmed:22561520,pubmed:22609107,pubmed:22722201,pubmed:22723903,pubmed:22810696,pubmed:22821383,pubmed:22865003,pubmed:22877736,pubmed:22975805,pubmed:23525077,pubmed:23700467,pubmed:23852799,pubmed:23856246,pubmed:24121792,pubmed:24190505,pubmed:24604757,pubmed:24797764,cosmic_study:328,cosmic_study:331,cosmic_study:332,cosmic_study:338,cosmic_study:34,cosmic_study:343,cosmic_study:35,cosmic_study:375,cosmic_study:376,cosmic_study:384,cosmic_study:385,cosmic_study:395,cosmic_study:409,cosmic_study:414,cosmic_study:418,cosmic_study:419,cosmic_study:448,cosmic_study:453,cosmic_study:464,cosmic_study:479,cosmic_study:485,cosmic_study:504,cosmic_study:518,cosmic_study:557,cosmic_study:581,pubmed:8180965,pubmed:8194706,pubmed:8473053,pubmed:8630996,pubmed:8645583,pubmed:8934544,pubmed:8950983,pubmed:9036877,pubmed:9052405,pubmed:9367066,pubmed:9413950,pubmed:9450901,pubmed:9460999,pubmed:9537240,pubmed:9788444,pubmed:9823556 17p13.1 17 7673704G> A null R * 147 147 missense 1 Ovarian Neoplasms ClinVar:RCV000785333 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1048095040 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Familial cancer of breast, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7673703C> T null R Q 147 147 missense 0.856 possibly damaging 0.08 tolerated 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000664300 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1048095040 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Familial cancer of breast, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7673703C> T null R Q 147 147 missense 0.856 possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561902 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1048095040 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Familial cancer of breast, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7673703C> T null R Q 147 147 missense 0.856 possibly damaging 0.08 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000527123 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1048095040 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Familial cancer of breast, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7673703C> T null R Q 147 147 missense 0.856 possibly damaging 0.08 tolerated 0 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000989706 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1457582183 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673608G> C null A G 148 148 missense 0.2 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568377 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1457582183 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:18772890,pubmed:23917401,cosmic_study:473,cosmic_study:552 17p13.1 17 7673608G> A null A V 148 148 missense 0.006 benign 0.08 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000824567 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525012 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10225439,pubmed:15251969,pubmed:23856246,cosmic_study:504 17p13.1 17 7673603G> A null P S 150 150 missense 0.021 benign 0.26 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574214 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525012 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10225439,pubmed:15251969,pubmed:23856246,cosmic_study:504 17p13.1 17 7673603G> A null P S 150 150 missense 0.021 benign 0.26 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000537437 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525012 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: upper_aerodigestive_tract, [UniProt]: germline mutation and in sporadic cancers; somatic mutation pubmed:10225439,pubmed:15251969,pubmed:23856246,cosmic_study:504 17p13.1 17 7673603G> A null P S 150 150 missense 0.021 benign 0.26 tolerated 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597359691 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673600T> C null N D 151 151 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001019109 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597359691 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673600T> C null N D 151 151 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000806895 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660829 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673598G> C null N K 151 151 missense 0.031 benign 0.61 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000492463 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660829 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673598G> T null N K 151 151 missense 0.031 benign 0.61 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221944 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs876660829 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673598G> T null N K 151 151 missense 0.031 benign 0.61 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000797410 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567546373 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7673595de l null N null 152 152 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785552 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:14719105 17p13.1 17 7673597T> G null N H 152 152 missense 0.0 benign 0.14 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774977 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555525007 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation pubmed:14719105 17p13.1 17 7673597T> G null N H 152 152 missense 0.0 benign 0.14 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633334 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs56184981 [ClinVar]: Li-Fraumeni syndrome, [UniProt]: a sporadic cancer; somatic mutation 17p13.1 17 7673596T> C null N S 152 152 missense 0.0 benign 1.0 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000473016 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs56184981 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7673596T> G null N T 152 152 missense 0.0 benign 0.83 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001019173 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs56184981 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7673596T> G null N T 152 152 missense 0.0 benign 0.83 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000205077 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145151284 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10621852,pubmed:16183105,pubmed:8182933 17p13.1 17 7673593G> C null T S 153 153 2.0E-4 missense 0.009 benign 0.24 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129462 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145151284 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10621852,pubmed:16183105,pubmed:8182933 17p13.1 17 7673593G> C null T S 153 153 2.0E-4 missense 0.009 benign 0.24 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000204899 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145151284 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10621852,pubmed:16183105,pubmed:8182933 17p13.1 17 7673593G> C null T S 153 153 2.0E-4 missense 0.009 benign 0.24 tolerated 1 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411116 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145151284 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Li-Fraumeni syndrome 1, [Cosmic]: haematopoietic_and_lymphoid_tissue, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Squamous cell carcinoma of the head and neck, [UniProt]: sporadic cancers; somatic mutation pubmed:10225439,pubmed:10621852,pubmed:16183105,pubmed:8182933 17p13.1 17 7673593G> C null T S 153 153 2.0E-4 missense 0.009 benign 0.24 tolerated 1 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000989705 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567546226 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7673583_7673592de l null S null 154 154 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785505 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs1367492395 [UniProt]: a sporadic cancer; somatic mutation 17p13.1 17 7673589G> T null S R 154 154 missense 0.214 benign 0.09 tolerated 0 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs751440465 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [UniProt]: a sporadic cancer; somatic mutation pubmed:15017592 17p13.1 17 7673587G> A null S F 155 155 missense 0.462 possibly damaging 0.11 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570325 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs751440465 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [UniProt]: a sporadic cancer; somatic mutation pubmed:15017592 17p13.1 17 7673587G> A null S F 155 155 missense 0.462 possibly damaging 0.11 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000456310 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs762620193 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673585A> T null S T 156 156 missense 0.003 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164586 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs762620193 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673585A> T null S T 156 156 missense 0.003 benign 0.21 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000793553 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555524979 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation, [Cosmic]: upper_aerodigestive_tract pubmed:11325447,pubmed:22817889,cosmic_study:444 17p13.1 17 7673581G> A null P L 157 157 missense 0.987 probably damaging 0.07 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001019395 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555524979 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation, [Cosmic]: upper_aerodigestive_tract pubmed:11325447,pubmed:22817889,cosmic_study:444 17p13.1 17 7673581G> A null P L 157 157 missense 0.987 probably damaging 0.07 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633395 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs772773208 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673582G> A null P S 157 157 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001019376 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs772773208 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673582G> A null P S 157 157 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001041188 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs772773208 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation 17p13.1 17 7673582G> T null P T 157 157 missense 0.987 probably damaging 0.45 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215470 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs772773208 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation 17p13.1 17 7673582G> T null P T 157 157 missense 0.987 probably damaging 0.45 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000467467 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555524976 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673578de l null Q null 158 158 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561039 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567546196 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Ovarian Neoplasms 17p13.1 17 7673582de l null Q null 158 158 frameshift 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000699992 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567546196 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Ovarian Neoplasms 17p13.1 17 7673582de l null Q null 158 158 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785340 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597359548 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673583de l null Q null 158 158 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000821889 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764735889 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10070948,pubmed:10956404,pubmed:11704835,pubmed:11801555,pubmed:16000567,pubmed:16024113,pubmed:16322298,pubmed:17388661,pubmed:17456604,pubmed:17638058,pubmed:1946433,pubmed:21720365,pubmed:22495314,pubmed:22722201,pubmed:22842228,pubmed:22941189,pubmed:23103869,pubmed:23607916,pubmed:23851445,pubmed:24140581,pubmed:24145436,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:377,cosmic_study:382,cosmic_study:384,cosmic_study:385,cosmic_study:424,cosmic_study:436,cosmic_study:511,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:583,pubmed:7957118,pubmed:8151121,pubmed:8467510,pubmed:9470817 17p13.1 17 7673579G> A null Q * 158 158 missense 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583201 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764735889 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [Cosmic]: pancreas, [Cosmic]: oesophagus, [Cosmic]: thyroid, [Cosmic]: ovary, [Cosmic]: lung, [Cosmic]: urinary_tract, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: liver, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:10070948,pubmed:10956404,pubmed:11704835,pubmed:11801555,pubmed:16000567,pubmed:16024113,pubmed:16322298,pubmed:17388661,pubmed:17456604,pubmed:17638058,pubmed:1946433,pubmed:21720365,pubmed:22495314,pubmed:22722201,pubmed:22842228,pubmed:22941189,pubmed:23103869,pubmed:23607916,pubmed:23851445,pubmed:24140581,pubmed:24145436,pubmed:24667986,cosmic_study:328,cosmic_study:331,cosmic_study:377,cosmic_study:382,cosmic_study:384,cosmic_study:385,cosmic_study:424,cosmic_study:436,cosmic_study:511,cosmic_study:548,cosmic_study:549,cosmic_study:582,cosmic_study:583,pubmed:7957118,pubmed:8151121,pubmed:8467510,pubmed:9470817 17p13.1 17 7673579G> A null Q * 158 158 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000615397 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1060501199 [ClinVar]: Li-Fraumeni syndrome, [UniProt]: a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation 17p13.1 17 7673577C> A null Q H 158 158 missense 0.563 possibly damaging 0.07 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000477030 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764735889 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation pubmed:11241240,pubmed:16174251 17p13.1 17 7673579G> T null Q K 158 158 missense 0.001 benign 1.0 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223439 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs764735889 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: endometrium, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [UniProt]: sporadic cancers; somatic mutation pubmed:11241240,pubmed:16174251 17p13.1 17 7673579G> T null Q K 158 158 missense 0.001 benign 1.0 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000541248 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1159579789 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: bone, [Cosmic]: large_intestine, [Cosmic]: ovary, [UniProt]: sporadic cancers; somatic mutation pubmed:12181274,pubmed:16183105,cosmic_study:376 17p13.1 17 7673578T> C null Q R 158 158 missense 0.058 benign 0.31 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000704730 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597359403 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673577_7673580de l null P null 159 159 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001019436 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1555524975 [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7673575G> A null P L 159 159 missense 0.058 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584424 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567546114 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673568_7673570CTT[1 ] null K null 162 162 inframe deletion 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000697887 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs863224687 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673564G> A null P S 163 163 missense 0.229 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573146 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs863224687 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673564G> A null P S 163 163 missense 0.229 benign 0.31 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000195973 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP rs863224687 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673564G> T null P T 163 163 missense 0.21 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217039 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1567545918 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673545_7673563de l null L null 164 164 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772929 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597359353 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673560A> G null L P 164 164 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001019627 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1432281680 cosmic curated [UniProt]: a sporadic cancer; somatic mutation, [Cosmic]: ovary pubmed:16183105 17p13.1 17 7673561G> C null L V 164 164 missense 0.121 benign 0.41 tolerated 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555524970 17p13.1 17 7673559de l null D null 165 165 frameshift 0 A0A087WT22 TP53 Cellular tumor antigen p53 gnomAD rs1177881399 17p13.1 17 7673557T> C null D G 165 165 missense 0.942 probably damaging 0.01 deleterious 0 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs1064794810 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673558C> G null D H 165 165 missense 0.988 probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573045 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs1064794810 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673558C> G null D H 165 165 missense 0.988 probably damaging 0.04 deleterious 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000555965 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,gnomAD rs1064794810 17p13.1 17 7673558C> T null D N 165 165 missense 0.942 probably damaging 0.12 tolerated 0 A0A087WT22 TP53 Cellular tumor antigen p53 TOPMed,dbSNP,gnomAD rs1064794810 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673558C> A null D Y 165 165 missense 0.988 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776836 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs863224500 NCI-TCGA Cosmic [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact., [Cosmic]: lung pubmed:22493262,pubmed:22980975,cosmic_study:431 17p13.1 17 7673555C> A null G * 166 166 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000195434 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs121912659 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Hereditary cancer-predisposing syndrome pubmed:10213514 17p13.1 17 7673554C> T null G E 166 166 missense 0.017 benign 1.0 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566077 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs121912659 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: breast, [ClinVar]: Hereditary cancer-predisposing syndrome pubmed:10213514 17p13.1 17 7673554C> T null G E 166 166 missense 0.017 benign 1.0 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001217424 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs863224500 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673555C> T null G R 166 166 missense 0.541 possibly damaging 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568856 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs121912659 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [UniProt]: germline mutation, [ClinVar]: COLORECTAL CANCER, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Non-Hodgkin lymphoma pubmed:1565144 pubmed:1565144,pubmed:18025850 17p13.1 17 7673554C> A null G V 166 166 missense 0.696 possibly damaging 0.12 tolerated 1 COLORECTAL CANCER (CRC) ClinVar:RCV000013166 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs121912659 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [UniProt]: germline mutation, [ClinVar]: COLORECTAL CANCER, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Non-Hodgkin lymphoma pubmed:1565144 pubmed:1565144,pubmed:18025850 17p13.1 17 7673554C> A null G V 166 166 missense 0.696 possibly damaging 0.12 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131411 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs121912659 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [UniProt]: germline mutation, [ClinVar]: COLORECTAL CANCER, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Non-Hodgkin lymphoma pubmed:1565144 pubmed:1565144,pubmed:18025850 17p13.1 17 7673554C> A null G V 166 166 missense 0.696 possibly damaging 0.12 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000232570 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs121912659 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [UniProt]: germline mutation, [ClinVar]: COLORECTAL CANCER, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Non-Hodgkin lymphoma pubmed:1565144 pubmed:1565144,pubmed:18025850 17p13.1 17 7673554C> A null G V 166 166 missense 0.696 possibly damaging 0.12 tolerated 1 Li-Fraumeni syndrome (LFS) An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. MIM:151623 pubmed:10484981,pubmed:1565144,pubmed:1737852,pubmed:1933902,pubmed:1978757,pubmed:2259385,pubmed:7887414,pubmed:8825920,pubmed:9452042 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs121912659 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [UniProt]: germline mutation, [ClinVar]: COLORECTAL CANCER, [Cosmic]: urinary_tract, [ClinVar]: Hereditary cancer-predisposing syndrome, [ClinVar]: Non-Hodgkin lymphoma pubmed:1565144 pubmed:1565144,pubmed:18025850 17p13.1 17 7673554C> A null G V 166 166 missense 0.696 possibly damaging 0.12 tolerated 1 Non-Hodgkin lymphoma (NHL) MIM:605027 ClinVar:RCV000013165 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659384 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Ovarian Neoplasms, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11241240,pubmed:23619168,cosmic_study:561,pubmed:8151121 17p13.1 17 7673552C> A null E * 167 167 missense 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218971 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659384 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Ovarian Neoplasms, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11241240,pubmed:23619168,cosmic_study:561,pubmed:8151121 17p13.1 17 7673552C> A null E * 167 167 missense 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000633385 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs876659384 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Ovarian Neoplasms, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: large_intestine, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract pubmed:10709097,pubmed:11241240,pubmed:23619168,cosmic_study:561,pubmed:8151121 17p13.1 17 7673552C> A null E * 167 167 missense 1 Ovarian Neoplasms ClinVar:RCV000785490 A0A087WT22 TP53 Cellular tumor antigen p53 gnomAD rs1000256867 17p13.1 17 7673550T> G null E D 167 167 missense 0.987 probably damaging 0.12 tolerated 0 A0A087WT22 TP53 Cellular tumor antigen p53 gnomAD rs1000256867 17p13.1 17 7673550T> A null E D 167 167 missense 0.987 probably damaging 0.12 tolerated 0 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597359215 [ClinVar]: Ovarian Neoplasms 17p13.1 17 7673547_7673548AT[1 ] null Y null 168 168 frameshift 1 Ovarian Neoplasms ClinVar:RCV000785540 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597359235 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673551_7673552TC[3 ] null Y null 168 168 frameshift 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001019729 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs879254077 cosmic curated [Cosmic]: prostate, [Cosmic]: biliary_tract, [Cosmic]: ovary, [Cosmic]: upper_aerodigestive_tract, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. pubmed:15099937,pubmed:21798897,pubmed:22561520,cosmic_study:343,cosmic_study:409,pubmed:9230279 17p13.1 17 7673547A> C null Y * 168 168 missense 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597359175 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673545A> G null F S 169 169 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000803048 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs886041285 17p13.1 17 7673547du p null T null 170 170 frameshift 0 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs969930693 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation, [Cosmic]: upper_aerodigestive_tract pubmed:16024113,pubmed:21984974,cosmic_study:357 17p13.1 17 7673542G> A null T I 170 170 missense 0.943 probably damaging 0.06 tolerated 1 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001183900 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs969930693 cosmic curated [ClinVar]: Li-Fraumeni syndrome, [Cosmic]: skin, [ClinVar]: Hereditary cancer-predisposing syndrome, [UniProt]: a sporadic cancer; somatic mutation, [Cosmic]: upper_aerodigestive_tract pubmed:16024113,pubmed:21984974,cosmic_study:357 17p13.1 17 7673542G> A null T I 170 170 missense 0.943 probably damaging 0.06 tolerated 1 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000808332 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597359140 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673539A> G null L P 171 171 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000806974 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555524949 [ClinVar]: Li-Fraumeni syndrome 17p13.1 17 7673535_7673538de l null Q null 172 172 frameshift 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000540169 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs11575996 cosmic curated [Cosmic]: large_intestine, [Cosmic]: pancreas, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung pubmed:20668451,pubmed:21760996,pubmed:21901162,pubmed:23103869,cosmic_study:328,cosmic_study:338,cosmic_study:376,cosmic_study:418,cosmic_study:436,cosmic_study:583 17p13.1 17 7673535C> A null Q H 172 172 missense 0.012 benign 0.04 deleterious 1 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597359130 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673537G> T null Q K 172 172 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV001019890 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1597359130 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673537G> T null Q K 172 172 missense 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001233978 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1064795056 [ClinVar]: Li-Fraumeni syndrome, [UniProt]: sporadic cancers; somatic mutation 17p13.1 17 7673536T> C null Q R 172 172 missense 0.085 benign 0.07 tolerated 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV001037256 A0A087WT22 TP53 Cellular tumor antigen p53 gnomAD rs1223693877 17p13.1 17 7673263G> T null L I 174 174 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl rs1555524885 17p13.1 17 7673262A> T null L Q 174 174 missense 0.0 benign 0.06 tolerated - low confidence 0 A0A087WT22 TP53 Cellular tumor antigen p53 gnomAD rs1490931437 17p13.1 17 7673260G> A null L F 175 175 missense 0.001 benign 0.19 tolerated - low confidence 0 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs554738122 [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673251G> A null R * 178 178 2.0E-4 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583565 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs554738122 [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673251G> A null R * 178 178 2.0E-4 stop gained 0 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662812 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs771319678 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673250C> T null R Q 178 178 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584363 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP,gnomAD rs1337983762 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673246C> T null W * 179 179 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776853 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,dbSNP,gnomAD rs749361930 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673248A> G null W R 179 179 missense 0.0 benign 0.05 tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582457 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs1642789 [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673245A> G null C R 180 180 missense 0.0 benign 0.74 tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583691 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs1642789 [ClinVar]: Li-Fraumeni syndrome 1, [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673245A> G null C R 180 180 missense 0.0 benign 0.74 tolerated - low confidence 0 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662449 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,gnomAD rs1642789 17p13.1 17 7673245A> T null C S 180 180 missense 0.0 benign 0.4 tolerated - low confidence 0 A0A087WT22 TP53 Cellular tumor antigen p53 gnomAD rs993079710 17p13.1 17 7673244C> T null C Y 180 180 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A087WT22 TP53 Cellular tumor antigen p53 gnomAD rs1404688767 17p13.1 17 7673235A> T null L Q 183 183 missense 0.955 probably damaging 0.01 deleterious - low confidence 0 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567545268 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Squamous cell carcinoma of the head and neck 17p13.1 17 7673232A> T null I K 184 184 missense 0.023 benign 0.0 deleterious - low confidence 0 Li-Fraumeni syndrome (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:PS151623 pubmed:17392385,pubmed:20301488,pubmed:24493721,ClinVar:RCV000709401 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567545268 [ClinVar]: Li-Fraumeni syndrome, [ClinVar]: Squamous cell carcinoma of the head and neck 17p13.1 17 7673232A> T null I K 184 184 missense 0.023 benign 0.0 deleterious - low confidence 0 Squamous cell carcinoma of the head and neck (HNSCC) Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. MIM:275355 ClinVar:RCV000989702 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,gnomAD rs200274944 17p13.1 17 7673228G> T null N K 185 185 2.0E-4 missense 0.859 possibly damaging 0.66 tolerated - low confidence 0 A0A087WT22 TP53 Cellular tumor antigen p53 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs200274944 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673228G> C null N K 185 185 2.0E-4 missense 0.859 possibly damaging 0.66 tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581352 A0A087WT22 TP53 Cellular tumor antigen p53 gnomAD rs1397372864 17p13.1 17 7673229T> C null N S 185 185 missense 0.801 possibly damaging 0.13 tolerated - low confidence 0 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs758194998 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673226G> A null S L 186 186 missense 0.776 possibly damaging 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582476 A0A087WT22 TP53 Cellular tumor antigen p53 ExAC,TOPMed,dbSNP,gnomAD rs756952434 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673223G> A null S L 187 187 missense 0.0 benign 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581373 A0A087WT22 TP53 Cellular tumor antigen p53 dbSNP rs1555524872 [ClinVar]: Li-Fraumeni syndrome 1 17p13.1 17 7673222_7673224CGA[1 ] null S null 187 187 inframe deletion 0 Li-Fraumeni syndrome 1 (LFS) Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. MIM:151623 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:20065170,pubmed:20301471,pubmed:20301488,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663106 A0A087WT22 TP53 Cellular tumor antigen p53 Ensembl,dbSNP rs1567545210 [ClinVar]: Hereditary cancer-predisposing syndrome 17p13.1 17 7673221du p null * L 188 188 stop lost 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000771763 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1001129791 8p12 8 30732299C> A null L I 2 2 missense 0.0 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1266064515 8p12 8 30732300T> C null L P 2 2 missense 0.0 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,TOPMed,gnomAD rs539195972 8p12 8 30732305T> G null S A 4 4 2.0E-4 missense 0.0 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs993768943 8p12 8 30732306C> G null S C 4 4 missense 0.021 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs1026593560 8p12 8 30732308G> A null G S 5 5 missense 0.003 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes rs575806686 8p12 8 30732315G> T null W L 7 7 3.99E-4 missense 0.007 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1322011721 8p12 8 30732321C> A null T N 9 9 missense 0.0 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1401079470 8p12 8 30732323G> C null V L 10 10 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1298156741 8p12 8 30732330T> G null I R 12 12 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,TOPMed,gnomAD rs538125304 8p12 8 30732329A> G null I V 12 12 2.0E-4 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1427247160 8p12 8 30732333G> A null R K 13 13 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1371946468 8p12 8 30732335T> C null C R 14 14 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs748598236 8p12 8 30732336G> A null C Y 14 14 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1453439137 8p12 8 30732338C> T null P S 15 15 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1025088344 8p12 8 30732341A> T null R * 16 16 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1025088344 8p12 8 30732341A> G null R G 16 16 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1249702334 8p12 8 30732344A> T null K * 17 17 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs922455125 8p12 8 30732345A> G null K R 17 17 missense 0.003 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,TOPMed,gnomAD rs555266668 8p12 8 30732348A> C null K T 18 18 3.99E-4 missense 0.0 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs933848421 8p12 8 30732356A> T null I F 21 21 missense 0.024 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1276869384 8p12 8 30732365C> G null Q E 24 24 missense 0.0 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1237364769 8p12 8 30744347C> T null P L 32 32 missense 0.0 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1034107179 8p12 8 30744349C> T null P S 33 33 missense 0.81 possibly damaging 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1278798665 8p12 8 30744352C> T null L F 34 34 missense 0.001 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1373875644 8p12 8 30744362G> C null R P 37 37 missense 0.083 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs775177950 8p12 8 30744361C> A null R S 37 37 missense 0.03 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1024118985 8p12 8 30744365G> C null G A 38 38 missense 0.062 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs1563557972 8p12 8 30744364G> A null G S 38 38 missense 0.062 benign 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1311034533 8p12 8 30744374C> T null A V 41 41 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1014074706 8p12 8 30744376G> C null A P 42 42 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1014074706 8p12 8 30744376G> A null A T 42 42 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1378186109 8p12 8 30744385A> G null T A 45 45 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1450206528 8p12 8 30744391C> G null P A 47 47 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1360951880 8p12 8 30744395G> A null R K 48 48 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs971183979 8p12 8 30744398T> C null L P 49 49 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1419296348 8p12 8 30744401A> G null H R 50 50 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs971825455 8p12 8 30744406C> T null P S 52 52 missense 0.0 unknown 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1255911746 8p12 8 30744412C> A null P T 54 54 missense 0.0 unknown 0.06 tolerated - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1180622949 8p12 8 30744416C> T null P L 55 55 missense 0.0 unknown 0.75 tolerated - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1279004739 8p12 8 30744419C> G null T S 56 56 missense 0.0 unknown 0.11 tolerated - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1025416882 8p12 8 30744422C> G null S C 57 57 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,TOPMed rs560094328 8p12 8 30744435C> A null F L 61 61 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,TOPMed rs560094328 8p12 8 30744435C> G null F L 61 61 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs910183066 8p12 8 30744437C> T null T I 62 62 missense 0.0 unknown 0.26 tolerated - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs984073584 8p12 8 30744440C> A null S * 63 63 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs984073584 8p12 8 30744440C> T null S L 63 63 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs984073584 8p12 8 30744440C> G null S W 63 63 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1017235291 8p12 8 30744444G> T null R S 64 64 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,TOPMed,gnomAD rs532398193 8p12 8 30744446A> T null N I 65 65 2.0E-4 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,TOPMed,gnomAD rs532398193 8p12 8 30744446A> C null N T 65 65 2.0E-4 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,TOPMed,gnomAD rs370487136 8p12 8 30751401A> G null K E 72 72 missense 0.971 probably damaging 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,TOPMed,gnomAD rs370487136 8p12 8 30751401A> C null K Q 72 72 missense 0.991 probably damaging 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1390222061 8p12 8 30751404G> T null D Y 73 73 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1430924995 8p12 8 30751416C> T null L F 77 77 missense 0.86 possibly damaging 0.05 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1365166144 8p12 8 30751422G> A null G S 79 79 missense 1.0 probably damaging 0.05 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,NCI-TCGA,TOPMed,gnomAD rs779487232 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8p12 8 30751426G> A null R Q 80 80 missense 0.837 possibly damaging 0.09 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199647078 8p12 8 30751425C> T null R W 80 80 7.99E-4 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs901839632 8p12 8 30751434C> G null L V 83 83 missense 0.947 probably damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs746207427 8p12 8 30751437C> A null L M 84 84 missense 0.73 possibly damaging 0.04 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs759026296 8p12 8 30751440C> T null L F 85 85 missense 0.654 possibly damaging 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs780379767 8p12 8 30751441T> G null L R 85 85 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs759026296 8p12 8 30751440C> G null L V 85 85 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1246365364 8p12 8 30751443G> A null A T 86 86 missense 0.444 benign 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1158717174 8p12 8 30751450T> G null L R 88 88 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2911690 8p12 8 30751459C> T null T I 91 91 0.002396 missense 0.0 benign 1.0 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1472518140 8p12 8 30751458A> C null T P 91 91 missense 0.491 possibly damaging 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1042752255 8p12 8 30751468T> C null V A 94 94 missense 0.221 benign 0.04 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1042752255 8p12 8 30751468T> G null V G 94 94 missense 0.835 possibly damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1409483932 8p12 8 30751467G> C null V L 94 94 missense 0.061 benign 0.05 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201560333 8p12 8 30751489C> T null S L 101 101 2.0E-4 missense 0.482 possibly damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1303524482 8p12 8 30751491T> C null F L 102 102 missense 0.03 benign 0.15 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1349662564 8p12 8 30751500C> G null P A 105 105 missense 0.022 benign 0.46 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1226425908 8p12 8 30751501C> T null P L 105 105 missense 0.138 benign 0.16 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,TOPMed,gnomAD rs372365171 8p12 8 30751506G> A null V I 107 107 missense 0.476 possibly damaging 0.11 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1366251302 8p12 8 30753038A> G null E G 112 112 missense 0.017 benign 0.06 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1341783165 8p12 8 30753037G> C null E Q 112 112 missense 0.541 possibly damaging 0.09 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1203419877 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8p12 8 30753048G> T null K N 115 115 missense 0.071 benign 0.09 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1203419877 8p12 8 30753048G> C null K N 115 115 missense 0.071 benign 0.09 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1038332583 8p12 8 30753050A> G null N S 116 116 missense 0.476 possibly damaging 0.18 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,TOPMed rs372483999 8p12 8 30753052G> A null E K 117 117 missense 0.098 benign 0.19 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1438889451 8p12 8 30753066A> C null K N 121 121 missense 0.099 benign 0.05 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs752060395 8p12 8 30753067C> G null L V 122 122 missense 0.105 benign 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1183767627 8p12 8 30753071T> C null V A 123 123 missense 0.044 benign 0.23 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1445954097 8p12 8 30753070G> T null V L 123 123 missense 0.125 benign 0.09 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1427464886 8p12 8 30753082C> A null Q K 127 127 missense 0.944 probably damaging 0.04 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs755501000 8p12 8 30753083A> C null Q P 127 127 missense 0.981 probably damaging 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,TOPMed,gnomAD rs541458674 8p12 8 30753085C> T null Q * 128 128 2.0E-4 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,TOPMed,gnomAD rs541458674 8p12 8 30753085C> G null Q E 128 128 2.0E-4 missense 0.584 possibly damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1277468300 8p12 8 30753091G> T null A S 130 130 missense 0.511 possibly damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs541724897 8p12 8 30753097G> A null G R 132 132 missense 0.029 benign 0.21 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs751916310 8p12 8 30754671A> G null R G 137 137 missense 0.02 benign 0.15 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs755483731 8p12 8 30754676C> A null Y * 138 138 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs755483731 8p12 8 30754676C> G null Y * 138 138 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1326271036 8p12 8 30754681_30754682insTACATAGAGATACATAG A null I DT* 139 140 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199717897 8p12 8 30754678T> G null I R 139 139 0.002396 missense 0.052 benign 0.08 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199717897 8p12 8 30754678T> C null I T 139 139 0.002396 missense 0.039 benign 0.18 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,gnomAD rs576560629 8p12 8 30754682G> C null E D 140 140 2.0E-4 missense 0.986 probably damaging 0.08 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs749572936 8p12 8 30754685T> G null N K 141 141 missense 0.17 benign 0.12 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs771180378 8p12 8 30754696C> T null P L 145 145 missense 0.874 possibly damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1431241265 8p12 8 30754698C> T null H Y 146 146 missense 0.033 benign 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1171319075 8p12 8 30754702A> C null Q P 147 147 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1451744666 8p12 8 30754709G> T null M I 149 149 missense 0.312 benign 0.04 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,gnomAD rs542095756 8p12 8 30754708T> C null M T 149 149 2.0E-4 missense 0.034 benign 0.27 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs776672668 8p12 8 30754714T> A null L * 151 151 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs747668864 8p12 8 30754715G> C null L F 151 151 missense 0.984 probably damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs776672668 8p12 8 30754714T> G null L W 151 151 missense 0.762 possibly damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs769483806 8p12 8 30754726A> G null E G 155 155 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs772842848 8p12 8 30754729A> T null E V 156 156 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,TOPMed,gnomAD rs374278209 8p12 8 30754731C> T null R C 157 157 missense 0.17 benign 0.1 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1240525970 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 8p12 8 30754732G> A null R H 157 157 missense 0.112 benign 0.05 deleterious 1 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs766029391 8p12 8 30754735T> C null F S 158 158 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs774601230 8p12 8 30754740C> A null Q K 160 160 missense 0.138 benign 0.11 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs759904302 8p12 8 30754741A> G null Q R 160 160 missense 0.007 benign 0.51 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs969653481 8p12 8 30754743A> T null M L 161 161 missense 0.279 benign 0.1 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,TOPMed,gnomAD rs562399157 8p12 8 30754747C> A null T K 162 162 2.0E-4 missense 0.972 probably damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,TOPMed,gnomAD rs562399157 8p12 8 30754747C> T null T M 162 162 2.0E-4 missense 0.611 possibly damaging 0.1 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs756601449 8p12 8 30754756C> G null A G 165 165 missense 0.356 benign 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,gnomAD rs186481200 8p12 8 30754755G> T null A S 165 165 missense 0.053 benign 0.16 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,gnomAD rs186481200 8p12 8 30754755G> A null A T 165 165 missense 0.013 benign 1.0 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1205802068 8p12 8 30754760G> C null W C 166 166 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1457542439 8p12 8 30754765T> G null L * 168 168 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs189772967 8p12 8 30754768G> A null S N 169 169 0.003994 missense 0.948 probably damaging 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1367803681 8p12 8 30754771G> A null S N 170 170 missense 0.003 benign 0.55 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1425665036 8p12 8 30754774G> C null G A 171 171 missense 0.989 probably damaging 0.05 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs753923762 8p12 8 30754781A> C null K N 173 173 missense 0.907 possibly damaging 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,TOPMed,gnomAD rs540981348 8p12 8 30754782C> T null L F 174 174 5.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs928206087 8p12 8 30754783T> C null L P 174 174 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,TOPMed,gnomAD rs540981348 8p12 8 30754782C> G null L V 174 174 5.99E-4 missense 0.946 probably damaging 0.06 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs1563562648 8p12 8 30754785G> C null G R 175 175 missense 0.654 possibly damaging 0.05 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC rs761211556 8p12 8 30756766G> T null G V 176 176 missense 0.965 probably damaging 0.04 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs764564142 8p12 8 30756771G> A null E K 178 178 missense 0.083 benign 0.06 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1400819897 8p12 8 30756774G> C null G R 179 179 missense 0.018 benign 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1449800050 8p12 8 30756777A> G null T A 180 180 missense 0.006 benign 0.62 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1316580865 8p12 8 30756778C> T null T I 180 180 missense 0.086 benign 0.12 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1383061311 8p12 8 30756781G> T null S I 181 181 missense 0.614 possibly damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1227285611 8p12 8 30756786A> G null T A 183 183 missense 0.021 benign 0.23 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1472280389 8p12 8 30756793T> C null F S 185 185 missense 0.022 benign 0.33 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs753889677 8p12 8 30756798A> T null T S 187 187 missense 0.624 possibly damaging 0.35 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs757323661 8p12 8 30756802C> T null S L 188 188 missense 0.132 benign 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs879243117 8p12 8 30756801T> C null S P 188 188 missense 0.005 benign 0.42 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,gnomAD rs374547609 8p12 8 30756816G> T null A S 193 193 missense 0.142 benign 0.09 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,gnomAD rs374547609 8p12 8 30756816G> A null A T 193 193 missense 0.288 benign 0.04 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1011840575 8p12 8 30756822A> G null S G 195 195 missense 0.236 benign 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs781170712 8p12 8 30756823G> A null S N 195 195 missense 0.236 benign 0.04 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1188174368 8p12 8 30756826A> G null Q R 196 196 missense 0.003 benign 1.0 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs1563563567 8p12 8 30756835C> G null P R 199 199 missense 0.317 benign 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1430691219 8p12 8 30756834C> T null P S 199 199 missense 0.835 possibly damaging 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC rs747925643 8p12 8 30756837A> T null K * 200 200 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1171625115 8p12 8 30756841C> G null P R 201 201 missense 0.031 benign 0.05 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs777812864 8p12 8 30756844T> G null L * 202 202 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs201765369 8p12 8 30756843T> G null L V 202 202 missense 0.009 benign 0.59 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs748751612 8p12 8 30756846A> G null T A 203 203 missense 0.049 benign 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1237258414 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 8p12 8 30756847C> G null T S 203 203 missense 0.053 benign 0.06 tolerated 1 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368787127 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 8p12 8 30756856C> T null P L 206 206 missense 0.018 benign 0.23 tolerated 1 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1278007662 8p12 8 30756865C> A null A D 209 209 missense 0.198 benign 0.12 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs1002271480 8p12 8 30756877C> T null T I 213 213 missense 0.012 benign 0.08 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs775882472 8p12 8 30756881C> A null C * 214 214 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs746374130 8p12 8 30756879T> G null C G 214 214 missense 0.003 benign 0.38 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs771684112 8p12 8 30756880G> A null C Y 214 214 missense 0.01 benign 0.04 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1268545840 8p12 8 30760891C> G null P A 218 218 missense 0.205 benign 0.46 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1489971428 8p12 8 30760892C> T null P L 218 218 missense 0.005 benign 0.33 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1268545840 8p12 8 30760891C> T null P S 218 218 missense 0.036 benign 0.08 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1202165045 8p12 8 30760895A> G null D G 219 219 missense 0.012 benign 0.12 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs747382935 8p12 8 30760907A> G null E G 223 223 missense 0.98 probably damaging 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs768953070 8p12 8 30760910C> T null P L 224 224 missense 0.519 possibly damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1470110753 8p12 8 30760909C> T null P S 224 224 missense 0.969 probably damaging 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs989636161 8p12 8 30760912T> C null S P 225 225 missense 0.009 benign 0.52 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1206327166 8p12 8 30760915C> G null Q E 226 226 missense 0.0 benign 1.0 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1345235669 8p12 8 30760916A> G null Q R 226 226 missense 0.138 benign 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs762419680 8p12 8 30760919C> A null T K 227 227 missense 0.454 possibly damaging 0.25 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs915334205 8p12 8 30760921G> C null A P 228 228 missense 0.921 probably damaging 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs948159110 8p12 8 30760928A> C null E A 230 230 missense 0.03 benign 0.23 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs948159110 8p12 8 30760928A> T null E V 230 230 missense 0.578 possibly damaging 0.07 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs1563566848 8p12 8 30763276G> T null V F 232 232 missense 0.975 probably damaging 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1350442687 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8p12 8 30763288C> T null L F 236 236 missense 0.622 possibly damaging 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs754585716 8p12 8 30763291C> T null R * 237 237 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs868348390 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8p12 8 30763292G> A null R Q 237 237 missense 0.923 probably damaging 0.05 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1056206135 8p12 8 30763294T> G null C G 238 238 missense 0.935 probably damaging 0.05 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1056206135 8p12 8 30763294T> C null C R 238 238 missense 0.432 benign 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs1563566872 8p12 8 30763297C> G null P A 239 239 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1442994671 8p12 8 30763298C> A null P H 239 239 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1442994671 8p12 8 30763298C> G null P R 239 239 missense 0.627 possibly damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs896336430 8p12 8 30763308T> A null N K 242 242 missense 0.006 benign 0.35 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1171701930 8p12 8 30763309G> C null V L 243 243 missense 0.045 benign 0.1 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1471792227 8p12 8 30763313T> C null L P 244 244 missense 0.062 benign 0.07 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs781653859 8p12 8 30763316G> A null R K 245 245 missense 0.051 benign 0.18 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1431093518 8p12 8 30763318A> G null R G 246 246 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs77443237 8p12 8 30763323G> T null R S 247 247 missense 0.73 possibly damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs993333530 8p12 8 30763329G> C null L F 249 249 missense 0.017 benign 0.39 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs200979821 8p12 8 30763330A> G null K E 250 250 missense 0.828 possibly damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs748408113 8p12 8 30763334C> T null S F 251 251 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1249593721 8p12 8 30763333T> C null S P 251 251 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1179737637 8p12 8 30763337A> G null Y C 252 252 missense 0.0 benign 0.22 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1195055570 8p12 8 30766227G> T null V F 256 256 missense 0.987 probably damaging 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,TOPMed,gnomAD rs370192242 8p12 8 30766233T> C null F L 258 258 missense 0.001 benign 1.0 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,TOPMed,gnomAD rs370192242 8p12 8 30766233T> G null F V 258 258 missense 0.059 benign 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs867374218 8p12 8 30766240G> A null W * 260 260 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes rs531704786 8p12 8 30766239T> C null W R 260 260 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs750305047 8p12 8 30766242A> C null M L 261 261 missense 0.109 benign 0.11 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs750305047 8p12 8 30766242A> G null M V 261 261 missense 0.624 possibly damaging 0.1 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,TOPMed,gnomAD rs201673016 8p12 8 30766246C> T null T M 262 262 missense 0.003 benign 0.91 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs966960922 8p12 8 30766251A> G null I V 264 264 missense 0.02 benign 0.31 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs765944094 8p12 8 30766257T> C null Y H 266 266 missense 0.781 possibly damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs997168847 8p12 8 30766262C> G null H Q 267 267 missense 0.461 possibly damaging 0.06 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1432811820 8p12 8 30766270T> C null L P 270 270 missense 0.937 probably damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs978331141 8p12 8 30766269C> G null L V 270 270 missense 0.202 benign 0.15 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs751044137 8p12 8 30766274C> G null Y * 271 271 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs751044137 8p12 8 30766274C> A null Y * 271 271 stop gained 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed,gnomAD rs1380797719 8p12 8 30766272T> C null Y H 271 271 missense 0.86 possibly damaging 0.04 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs780666088 8p12 8 30766278C> G null L V 273 273 missense 0.946 probably damaging 0.04 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs924312083 8p12 8 30766285C> T null T I 275 275 missense 0.935 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115749166 8p12 8 30766287T> G null S A 276 276 7.99E-4 missense 0.55 possibly damaging 0.04 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs756374242 8p12 8 30766288C> T null S F 276 276 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1223562035 8p12 8 30766291T> C null F S 277 277 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1231975414 8p12 8 30766294C> T null P L 278 278 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34990535 8p12 8 30766299C> G null R G 280 280 3.99E-4 missense 0.118 benign 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,TOPMed,gnomAD rs374213210 8p12 8 30766300G> T null R L 280 280 missense 0.395 benign 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,TOPMed,gnomAD rs374213210 8p12 8 30766300G> C null R P 280 280 missense 0.911 probably damaging 0.01 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,TOPMed,gnomAD rs374213210 8p12 8 30766300G> A null R Q 280 280 missense 0.131 benign 0.13 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34990535 8p12 8 30766299C> T null R W 280 280 3.99E-4 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP,ExAC,gnomAD rs368351879 8p12 8 30766302C> A null P T 281 281 missense 0.118 benign 0.09 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs772372046 8p12 8 30766311G> T null V L 284 284 missense 0.03 benign 0.18 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs772372046 8p12 8 30766311G> C null V L 284 284 missense 0.03 benign 0.18 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs772372046 8p12 8 30766311G> A null V M 284 284 missense 0.288 benign 0.11 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1270917053 8p12 8 30766318G> A null G E 286 286 missense 0.118 benign 0.16 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs774717316 8p12 8 30766321G> A null G D 287 287 missense 0.061 benign 0.27 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs765001492 8p12 8 30766325G> C null Q H 288 288 missense 0.6 possibly damaging 0.17 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs765001492 8p12 8 30766325G> T null Q H 288 288 missense 0.6 possibly damaging 0.17 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,TOPMed,gnomAD rs547279064 8p12 8 30766327C> T null S L 289 289 2.0E-4 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 1000Genomes,ExAC,TOPMed,gnomAD rs547279064 8p12 8 30766327C> G null S W 289 289 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,NCI-TCGA,TOPMed,gnomAD rs751097233 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 8p12 8 30766335G> A null D N 292 292 missense 0.828 possibly damaging 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs754377021 8p12 8 30766338A> G null I V 293 293 missense 0.017 benign 0.29 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1177218154 8p12 8 30766344A> G null I V 295 295 missense 0.254 benign 0.03 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs767209382 8p12 8 30766351T> C null V A 297 297 missense 0.051 benign 0.21 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs906994132 8p12 8 30766350G> A null V M 297 297 missense 0.142 benign 0.13 tolerated 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ESP rs371968315 8p12 8 30766356A> G null T A 299 299 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs752348551 8p12 8 30766363T> A null L H 301 301 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,TOPMed,gnomAD rs752348551 8p12 8 30766363T> G null L R 301 301 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 ExAC,gnomAD rs755785701 8p12 8 30766376G> C null E D 305 305 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1293744108 8p12 8 30766389A> G null N D 310 310 missense 0.757 possibly damaging 0.12 tolerated - low confidence 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 Ensembl rs1336417768 8p12 8 30766392T> C null * Q 311 311 stop lost 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 TOPMed rs1257277514 8p12 8 30766393A> G null * W 311 311 stop lost 0 A0A087WT23 UBXN8 UBX domain-containing protein 8 gnomAD rs1195157923 8p12 8 30766394G> C null * Y 311 311 stop lost 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1174952138 6p21.31 6 35512854G> T null P H 2 2 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1174952138 6p21.31 6 35512854G> C null P R 2 2 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1311186934 6p21.31 6 35512851A> G null L P 3 3 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373351673 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.31 6 35512848C> T null R Q 4 4 missense 0.0 benign 1.0 tolerated - low confidence 1 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1054313189 6p21.31 6 35512845T> G null D A 5 5 missense 0.456 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1054313189 6p21.31 6 35512845T> A null D V 5 5 missense 0.71 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1278591973 6p21.31 6 35512837G> C null L V 8 8 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein Ensembl,dbSNP rs886061338 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35512833C> T null R Q 9 9 missense 0.921 probably damaging 0.0 deleterious - low confidence 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000332253 A0A087WT25 TULP1 Tubby-like protein Ensembl,dbSNP rs886061338 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35512833C> T null R Q 9 9 missense 0.921 probably damaging 0.0 deleterious - low confidence 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000277173 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs368315442 6p21.31 6 35512831C> G null E Q 10 10 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs145272099 6p21.31 6 35512828C> G null V L 11 11 missense 0.346 benign 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs187701943 6p21.31 6 35512821G> T null A D 13 13 2.0E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs912882168 6p21.31 6 35512812C> G null S T 16 16 missense 0.775 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs367559991 6p21.31 6 35512683C> T null E K 19 19 missense 0.447 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,NCI-TCGA,gnomAD rs760988046 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35512680C> T null E K 20 20 missense 0.423 benign 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs970248214 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35512677C> T null E K 21 21 missense 0.22 benign 0.02 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC rs773837553 6p21.31 6 35512674T> C null S G 22 22 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1228631375 6p21.31 6 35512673C> G null S T 22 22 missense 0.135 benign 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1426431281 6p21.31 6 35512671G> T null L M 23 23 missense 0.413 benign 0.07 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs761981623 6p21.31 6 35512664G> A null P L 25 25 missense 0.02 benign 0.14 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs761981623 6p21.31 6 35512664G> C null P R 25 25 missense 0.781 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1390830516 6p21.31 6 35512661T> G null E A 26 26 missense 0.631 possibly damaging 0.04 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs774507811 6p21.31 6 35512655G> A null P L 28 28 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1412251752 6p21.31 6 35512652C> G null R P 29 29 missense 0.015 benign 0.06 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs148838796 cosmic curated [ClinVar]: Leber congenital amaurosis 15, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa cosmic_study:419 6p21.31 6 35512653G> A null R W 29 29 missense 0.857 possibly damaging 0.06 tolerated - low confidence 1 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000331046 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs148838796 cosmic curated [ClinVar]: Leber congenital amaurosis 15, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Retinitis pigmentosa cosmic_study:419 6p21.31 6 35512653G> A null R W 29 29 missense 0.857 possibly damaging 0.06 tolerated - low confidence 1 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000366989 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1398566369 6p21.31 6 35512649C> T null R H 30 30 missense 0.035 benign 0.08 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1398566369 6p21.31 6 35512649C> A null R L 30 30 missense 0.464 possibly damaging 0.32 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs770728357 6p21.31 6 35512647G> A null P S 31 31 missense 0.167 benign 0.15 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs746856003 6p21.31 6 35512641G> C null Q E 33 33 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs746856003 6p21.31 6 35512641G> T null Q K 33 33 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes rs528561510 6p21.31 6 35512640T> A null Q L 33 33 2.0E-4 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1331834680 6p21.31 6 35512270G> A null R * 34 34 stop gained 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1353654207 6p21.31 6 35512267G> C null P A 35 35 missense 0.067 benign 0.97 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1236793323 6p21.31 6 35512266G> C null P R 35 35 missense 0.377 benign 0.06 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs891678786 6p21.31 6 35512264C> A null A S 36 36 missense 0.255 benign 0.24 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs891678786 6p21.31 6 35512264C> T null A T 36 36 missense 0.165 benign 0.3 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1290625573 6p21.31 6 35512258C> T null A T 38 38 missense 0.075 benign 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein Ensembl,dbSNP rs1561818754 [ClinVar]: TULP1-Related Disorders 6p21.31 6 35512255G> A null Q * 39 39 stop gained 0 TULP1-Related Disorders ClinVar:RCV000779502 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1487706110 6p21.31 6 35512254T> C null Q R 39 39 missense 0.234 benign 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1209546911 6p21.31 6 35512251C> A null R M 40 40 missense 0.627 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs866656460 6p21.31 6 35512250C> A null R S 40 40 missense 0.075 benign 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs866336086 6p21.31 6 35512245C> A null R M 42 42 missense 0.75 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs768193103 6p21.31 6 35512239T> G null K T 44 44 missense 0.843 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs867611064 6p21.31 6 35512236C> A null R M 45 45 missense 0.774 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1237699541 6p21.31 6 35512235C> G null R S 45 45 missense 0.009 benign 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs200344441 6p21.31 6 35512233G> A null T M 46 46 missense 0.79 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs906855472 6p21.31 6 35512227G> T null A D 48 48 missense 0.001 benign 0.11 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs906855472 6p21.31 6 35512227G> A null A V 48 48 missense 0.001 benign 0.12 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1323166247 6p21.31 6 35512218G> T null S Y 51 51 missense 0.865 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,TOPMed,gnomAD rs550864319 6p21.31 6 35512215G> T null P H 52 52 2.0E-4 missense 0.938 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,TOPMed,gnomAD rs550864319 6p21.31 6 35512215G> A null P L 52 52 2.0E-4 missense 0.057 benign 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs867359759 6p21.31 6 35512211G> T null C * 53 53 stop gained 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1163569465 6p21.31 6 35512206G> T null T K 55 55 missense 0.011 benign 0.97 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs750115295 6p21.31 6 35512194G> A null P L 59 59 missense 0.031 benign 0.07 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs755762321 6p21.31 6 35512195G> A null P S 59 59 missense 0.053 benign 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs755762321 6p21.31 6 35512195G> T null P T 59 59 missense 0.474 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1202178745 6p21.31 6 35512192G> C null R G 60 60 missense 0.015 benign 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1490623059 6p21.31 6 35512191C> T null R Q 60 60 missense 0.312 benign 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1219783631 6p21.31 6 35512185G> C null P R 62 62 missense 0.052 benign 0.07 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,dbSNP,gnomAD rs781650198 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35512186G> A null P S 62 62 missense 0.506 possibly damaging 0.27 tolerated - low confidence 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV001156391 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,dbSNP,gnomAD rs781650198 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35512186G> A null P S 62 62 missense 0.506 possibly damaging 0.27 tolerated - low confidence 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV001156390 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs757725696 6p21.31 6 35512183C> A null G * 63 63 stop gained 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs757725696 6p21.31 6 35512183C> T null G R 63 63 missense 0.985 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1286215025 6p21.31 6 35511806G> A null A V 64 64 missense 0.353 benign 0.06 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1203709295 6p21.31 6 35511803C> A null G V 65 65 missense 0.046 benign 0.06 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1264511610 6p21.31 6 35511804C> A null G W 65 65 missense 0.922 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1311597381 6p21.31 6 35511800C> A null R L 66 66 missense 0.545 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1243952652 6p21.31 6 35511798T> C null T A 67 67 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7764472 6p21.31 6 35511797G> T null T K 67 67 0.1256 missense 0.0 benign 0.21 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7764472 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa pubmed:9096357,pubmed:9462751 6p21.31 6 35511797G> C null T R 67 67 0.1256 missense 0.0 benign 1.0 tolerated - low confidence 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000398291 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7764472 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa pubmed:9096357,pubmed:9462751 6p21.31 6 35511797G> C null T R 67 67 0.1256 missense 0.0 benign 1.0 tolerated - low confidence 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000296887 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1434712730 6p21.31 6 35511794C> T null G E 68 68 missense 0.628 possibly damaging 0.08 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1298641413 6p21.31 6 35511795C> T null G R 68 68 missense 0.082 benign 0.31 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1298641413 6p21.31 6 35511795C> A null G W 68 68 missense 0.931 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1190585832 6p21.31 6 35511788G> T null P Q 70 70 missense 0.068 benign 0.08 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs757672643 6p21.31 6 35511786G> C null R G 71 71 missense 0.001 benign 0.05 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1359111633 6p21.31 6 35511785C> T null R Q 71 71 missense 0.017 benign 0.04 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs757672643 6p21.31 6 35511786G> A null R W 71 71 missense 0.785 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1412026729 6p21.31 6 35511779T> C null E G 73 73 missense 0.156 benign 0.02 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1158745046 6p21.31 6 35511780C> T null E K 73 73 missense 0.156 benign 0.22 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,TOPMed,gnomAD rs200713417 6p21.31 6 35511777G> C null P A 74 74 2.0E-4 missense 0.011 benign 0.07 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,TOPMed,gnomAD rs200713417 6p21.31 6 35511777G> A null P S 74 74 2.0E-4 missense 0.281 benign 0.08 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,TOPMed,gnomAD rs200713417 6p21.31 6 35511777G> T null P T 74 74 2.0E-4 missense 0.353 benign 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1244588827 6p21.31 6 35511773G> A null S F 75 75 missense 0.253 benign 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1482609956 6p21.31 6 35511770G> A null P L 76 76 missense 0.029 benign 0.02 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1309100490 6p21.31 6 35511759G> A null Q * 80 80 stop gained 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1235696684 6p21.31 6 35511756C> T null A T 81 81 missense 0.22 benign 0.12 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1307986064 6p21.31 6 35511753G> C null R G 82 82 missense 0.011 benign 0.49 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs753258431 6p21.31 6 35511752C> G null R P 82 82 missense 0.011 benign 0.38 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs753258431 6p21.31 6 35511752C> T null R Q 82 82 missense 0.011 benign 0.57 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1307986064 6p21.31 6 35511753G> A null R W 82 82 missense 0.799 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs765249939 6p21.31 6 35511749G> T null A E 83 83 missense 0.017 benign 0.21 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1340377003 6p21.31 6 35511750C> T null A T 83 83 missense 0.005 benign 0.14 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1378475902 6p21.31 6 35511746G> C null P R 84 84 missense 0.255 benign 0.02 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs754040672 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35511743T> C null Q R 85 85 missense 0.003 benign 0.83 tolerated - low confidence 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000341031 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs754040672 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35511743T> C null Q R 85 85 missense 0.003 benign 0.83 tolerated - low confidence 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000400311 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs761667984 6p21.31 6 35511740G> T null T K 86 86 missense 0.503 possibly damaging 0.05 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs761667984 6p21.31 6 35511740G> A null T M 86 86 missense 0.839 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs773954670 6p21.31 6 35511737A> G null V A 87 87 missense 0.529 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs773954670 6p21.31 6 35511737A> T null V D 87 87 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs762751444 6p21.31 6 35511734T> C null Y C 88 88 missense 0.957 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs554200612 6p21.31 6 35511732C> A null A S 89 89 missense 0.026 benign 0.2 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1422751896 6p21.31 6 35511731G> A null A V 89 89 missense 0.157 benign 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs775531277 6p21.31 6 35511727C> A null R S 90 90 missense 0.108 benign 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1391622608 6p21.31 6 35511723G> A null L F 92 92 missense 0.871 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs769395762 6p21.31 6 35511717C> A null D Y 94 94 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs924446814 6p21.31 6 35511714G> A null P S 95 95 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs924446814 6p21.31 6 35511714G> T null P T 95 95 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs867991935 6p21.31 6 35511711C> A null E * 96 96 stop gained 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs867991935 6p21.31 6 35511711C> T null E K 96 96 missense 0.563 possibly damaging 0.05 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1162169720 6p21.31 6 35511707G> T null A D 97 97 missense 0.964 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1453890817 6p21.31 6 35511700C> A null K N 99 99 missense 0.928 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs145518705 6p21.31 6 35511701T> C null K R 99 99 missense 0.742 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs776408837 6p21.31 6 35511698C> T null R H 100 100 missense 0.861 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs950379286 6p21.31 6 35511694G> T null D E 101 101 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs770773936 6p21.31 6 35511692G> A null P L 102 102 missense 0.929 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs770773936 6p21.31 6 35511692G> C null P R 102 102 missense 0.871 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs777941360 6p21.31 6 35511690G> C null R G 103 103 missense 0.629 possibly damaging 0.14 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs758811222 6p21.31 6 35511689C> T null R Q 103 103 missense 0.056 benign 0.12 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs777941360 6p21.31 6 35511690G> A null R W 103 103 missense 0.048 benign 0.03 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1166588666 6p21.31 6 35511681A> G null F L 106 106 missense 0.994 probably damaging 0.03 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1369735098 6p21.31 6 35511680A> G null F S 106 106 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs150453963 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35511675C> A null V L 108 108 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs868155975 6p21.31 6 35511669G> A null R C 110 110 missense 0.927 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1366347954 6p21.31 6 35511668C> T null R H 110 110 missense 0.861 possibly damaging 0.1 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,gnomAD rs556979411 6p21.31 6 35511666C> T null A T 111 111 2.0E-4 missense 0.999 probably damaging 0.1 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1273033018 6p21.31 6 35511657C> T null A T 114 114 missense 0.422 benign 0.07 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs766451583 6p21.31 6 35511656G> A null A V 114 114 missense 0.015 benign 0.2 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein dbSNP,gnomAD rs527236117 [ClinVar]: Retinitis pigmentosa 6p21.31 6 35511648C> T null E K 117 117 missense 0.006 benign 0.45 tolerated - low confidence 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000132650 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1031858478 6p21.31 6 35510997T> G null E D 121 121 missense 0.005 benign 0.11 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs113772629 6p21.31 6 35510994C> A null E D 122 122 5.99E-4 missense 0.005 benign 0.15 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs750582036 6p21.31 6 35510995T> A null E V 122 122 missense 0.452 possibly damaging 0.04 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs758112488 6p21.31 6 35510993C> G null E Q 123 123 missense 0.043 benign 0.02 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes rs199651570 6p21.31 6 35510989T> G null D A 124 124 0.002196 missense 0.03 benign 0.05 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147950414 6p21.31 6 35510988G> T null D E 124 124 0.001398 missense 0.001 benign 0.75 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs565455738 6p21.31 6 35510990C> T null D N 124 124 2.0E-4 missense 0.001 benign 0.08 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376074938 6p21.31 6 35510987C> A null E * 125 125 2.0E-4 stop gained 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376074938 6p21.31 6 35510987C> T null E K 125 125 2.0E-4 missense 0.015 benign 0.13 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376074938 6p21.31 6 35510987C> G null E Q 125 125 2.0E-4 missense 0.423 benign 0.11 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1462660856 6p21.31 6 35510983T> G null E A 126 126 missense 0.024 benign 0.02 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1420691528 6p21.31 6 35510984C> G null E Q 126 126 missense 0.003 benign 0.06 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs141034619 6p21.31 6 35510979G> C null D E 127 127 missense 0.005 benign 1.0 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs141034619 6p21.31 6 35510979G> T null D E 127 127 missense 0.005 benign 1.0 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs144957247 6p21.31 6 35510981C> T null D N 127 127 missense 0.005 benign 0.14 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs374057301 6p21.31 6 35510980T> A null D V 127 127 missense 0.268 benign 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs201182765 6p21.31 6 35510978C> T null E K 128 128 missense 0.071 benign 0.03 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1294868559 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35510967C> A null E D 131 131 missense 0.555 possibly damaging 0.32 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes rs535067120 6p21.31 6 35510965G> T null A E 132 132 2.0E-4 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,gnomAD rs200314643 6p21.31 6 35510963C> G null E Q 133 133 2.0E-4 missense 0.053 benign 0.09 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1333452318 6p21.31 6 35510960C> T null E K 134 134 missense 0.031 benign 0.27 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1394261825 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 6p21.31 6 35510951C> G null E Q 137 137 missense 0.144 benign 0.07 tolerated - low confidence 1 A0A087WT25 TULP1 Tubby-like protein Ensembl rs1561817813 6p21.31 6 35510943G> C null I M 139 139 missense 0.298 benign 0.06 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1292429761 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35510942G> A null L F 140 140 missense 0.17 benign 0.23 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs769742008 6p21.31 6 35510935G> A null P L 142 142 missense 0.353 benign 0.04 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1334498601 6p21.31 6 35510936G> A null P S 142 142 missense 0.033 benign 0.04 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs114056023 6p21.31 6 35510933G> C null P A 143 143 5.99E-4 missense 0.034 benign 0.23 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1445297694 6p21.31 6 35510926T> G null K T 145 145 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1215715582 6p21.31 6 35510923G> T null P H 146 146 missense 0.889 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs781263341 6p21.31 6 35510924G> T null P T 146 146 missense 0.392 benign 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs757429877 6p21.31 6 35510917C> T null R K 148 148 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145351282 6p21.31 6 35510903C> T null A T 153 153 2.0E-4 missense 0.048 benign 0.22 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs766387453 6p21.31 6 35510899T> C null D G 154 154 missense 0.045 benign 0.1 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1206325943 6p21.31 6 35510893T> G null K T 156 156 missense 0.543 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1482895103 6p21.31 6 35510887C> G null R T 158 158 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs749882966 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35510883C> G null R S 159 159 missense 0.341 benign 0.0 deleterious - low confidence 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000396452 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs749882966 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35510883C> G null R S 159 159 missense 0.341 benign 0.0 deleterious - low confidence 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000290733 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs766950334 6p21.31 6 35510882C> T null A T 160 160 missense 0.028 benign 0.32 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs879015678 6p21.31 6 35510878T> G null K T 161 161 missense 0.697 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1283164897 6p21.31 6 35510875G> T null A D 162 162 missense 0.899 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1337478675 6p21.31 6 35510861C> G null G R 167 167 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs1480120998 6p21.31 6 35509922A> G null L P 169 169 missense 0.012 benign 0.08 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs372589443 6p21.31 6 35509909G> T null D E 173 173 missense 0.003 benign 1.0 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs377576422 6p21.31 6 35509911C> G null D H 173 173 missense 0.402 benign 0.09 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs375213186 6p21.31 6 35509907G> C null P R 174 174 missense 0.915 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP rs144758785 6p21.31 6 35509908G> A null P S 174 174 missense 0.121 benign 0.08 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,gnomAD rs372126191 6p21.31 6 35509905G> C null P A 175 175 missense 0.005 benign 0.02 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs149292221 6p21.31 6 35509904G> A null P L 175 175 missense 0.182 benign 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs149292221 6p21.31 6 35509904G> T null P Q 175 175 missense 0.516 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs149292221 6p21.31 6 35509904G> C null P R 175 175 missense 0.439 benign 0.02 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,gnomAD rs372126191 6p21.31 6 35509905G> T null P T 175 175 missense 0.007 benign 0.08 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1162280837 6p21.31 6 35509902G> A null P S 176 176 missense 0.007 benign 0.3 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs1561817398 6p21.31 6 35509897T> A null K N 177 177 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs760035013 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 6p21.31 6 35509895G> A null P L 178 178 missense 0.881 possibly damaging 0.0 deleterious - low confidence 1 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139588263 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35509890G> A null R C 180 180 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs146004382 6p21.31 6 35509889C> T null R H 180 180 2.0E-4 missense 0.168 benign 0.05 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs576738703 6p21.31 6 35509887C> A null V F 181 181 3.99E-4 missense 0.103 benign 0.56 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs576738703 6p21.31 6 35509887C> G null V L 181 181 3.99E-4 missense 0.0 benign 0.59 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs142641513 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35509884T> C null R G 182 182 missense 0.096 benign 0.0 deleterious - low confidence 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000388773 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs142641513 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35509884T> C null R G 182 182 missense 0.096 benign 0.0 deleterious - low confidence 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000334230 A0A087WT25 TULP1 Tubby-like protein ExAC rs772356053 6p21.31 6 35509871G> A null A V 186 186 missense 0.024 benign 0.21 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,dbSNP,gnomAD rs748334290 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35509869G> A null P S 187 187 missense 0.121 benign 0.11 tolerated - low confidence 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000387066 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,dbSNP,gnomAD rs748334290 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35509869G> A null P S 187 187 missense 0.121 benign 0.11 tolerated - low confidence 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000292767 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs779850135 6p21.31 6 35509856C> T null G E 191 191 missense 0.786 possibly damaging 0.14 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1387096500 6p21.31 6 35509857C> G null G R 191 191 missense 0.847 possibly damaging 0.04 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138133926 6p21.31 6 35509853G> A null T I 192 192 2.0E-4 missense 0.937 probably damaging 0.09 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs781160404 6p21.31 6 35509850T> G null K T 193 193 missense 0.877 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1187402178 6p21.31 6 35509846C> A null M I 194 194 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs763595185 6p21.31 6 35509847A> T null M K 194 194 missense 0.031 benign 0.5 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs751134235 6p21.31 6 35509848T> A null M L 194 194 missense 0.0 benign 0.6 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1167522803 6p21.31 6 35509748A> G null S P 202 202 missense 0.024 benign 0.32 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1183134109 6p21.31 6 35509742C> T null E K 204 204 missense 0.341 benign 0.03 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs141173128 6p21.31 6 35509736C> G null D H 206 206 missense 0.161 benign 0.02 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs141173128 6p21.31 6 35509736C> T null D N 206 206 missense 0.475 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs148218948 6p21.31 6 35509733T> C null K E 207 207 missense 0.024 benign 0.25 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs777211292 6p21.31 6 35509732T> C null K R 207 207 missense 0.041 benign 0.19 tolerated - low confidence 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1312031777 6p21.31 6 35509728G> C null D E 208 208 missense 0.073 benign 0.15 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1255797840 6p21.31 6 35509730C> T null D N 208 208 missense 0.69 possibly damaging 0.05 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1275650548 6p21.31 6 35509720C> G null G A 211 211 missense 0.005 benign 0.65 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1371203038 6p21.31 6 35509717C> T null S N 212 212 missense 0.05 benign 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs752363121 6p21.31 6 35509714G> A null P L 213 213 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs754221623 6p21.31 6 35509705G> C null A G 216 216 missense 0.277 benign 0.44 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs754221623 6p21.31 6 35509705G> A null A V 216 216 missense 0.001 benign 1.0 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1209244768 6p21.31 6 35509697T> A null S C 219 219 missense 0.482 possibly damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs761217132 6p21.31 6 35509693G> A null P L 220 220 missense 0.16 benign 0.04 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1032251653 6p21.31 6 35509694G> A null P S 220 220 missense 0.856 possibly damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs750999216 6p21.31 6 35509690G> A null A V 221 221 missense 0.615 possibly damaging 0.11 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1211732890 6p21.31 6 35509684A> G null M T 223 223 missense 0.14 benign 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs903678310 6p21.31 6 35509685T> C null M V 223 223 missense 0.07 benign 0.06 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs767674809 6p21.31 6 35509675A> G null V A 226 226 missense 0.999 probably damaging 0.15 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ESP rs148976432 6p21.31 6 35509676C> T null V I 226 226 missense 0.998 probably damaging 0.07 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs774623471 6p21.31 6 35509672C> T null G E 227 227 missense 0.786 possibly damaging 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1469121973 cosmic curated [Cosmic]: skin pubmed:22197931,cosmic_study:389 6p21.31 6 35509670C> T null E K 228 228 missense 0.197 benign 0.08 tolerated 1 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1422664091 6p21.31 6 35509667C> T null G S 229 229 missense 0.138 benign 0.16 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs763244026 6p21.31 6 35509664T> A null S C 230 230 missense 0.005 benign 0.18 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,NCI-TCGA,gnomAD rs776350131 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 6p21.31 6 35509663C> T null S N 230 230 missense 0.062 benign 0.07 tolerated 1 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs770731473 6p21.31 6 35509655T> C null K E 233 233 missense 0.0 benign 1.0 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs746905296 6p21.31 6 35509652T> G null K Q 234 234 missense 0.89 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs777727619 6p21.31 6 35509640T> C null K E 238 238 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs9688653 cosmic curated [Cosmic]: breast cosmic_study:414 6p21.31 6 35509638C> G null K N 238 238 7.99E-4 missense 1.0 probably damaging 0.01 deleterious 1 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1267399059 6p21.31 6 35509639T> C null K R 238 238 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs773120841 6p21.31 6 35509312C> G null G A 240 240 missense 0.977 probably damaging 0.19 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs773120841 6p21.31 6 35509312C> T null G D 240 240 missense 0.536 possibly damaging 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs575656796 6p21.31 6 35509306G> A null P L 242 242 missense 0.381 benign 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs748120669 6p21.31 6 35509307G> A null P S 242 242 missense 0.031 benign 0.19 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs773686857 6p21.31 6 35509303T> G null K T 243 243 missense 0.839 possibly damaging 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs62636707 6p21.31 6 35509297G> T null A E 245 245 missense 0.0 benign 0.59 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs779902591 6p21.31 6 35509298C> A null A S 245 245 missense 0.0 benign 1.0 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs779902591 6p21.31 6 35509298C> T null A T 245 245 missense 0.005 benign 0.29 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs62636707 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6p21.31 6 35509297G> A null A V 245 245 missense 0.012 benign 0.12 tolerated 0 Retinitis pigmentosa 14 (RP14) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. MIM:600132 pubmed:15557452,pubmed:17620573,pubmed:19837063,pubmed:9462750,pubmed:9660588 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs757650593 6p21.31 6 35509294C> T null R K 246 246 missense 0.039 benign 0.2 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs752126260 6p21.31 6 35509293C> A null R S 246 246 missense 0.039 benign 0.06 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1156698545 6p21.31 6 35509289C> T null E K 248 248 missense 0.46 possibly damaging 0.09 tolerated 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs868618766 6p21.31 6 35509285_35509286delinsA T null E I 249 249 missense 0.856 possibly damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,NCI-TCGA,TOPMed,gnomAD rs764036030 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35509283C> T null E K 250 250 missense 0.024 benign 0.55 tolerated 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,gnomAD rs539113417 6p21.31 6 35509279T> A null E V 251 251 2.0E-4 missense 0.36 benign 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1432886863 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 6p21.31 6 35509277C> T null E K 252 252 missense 0.041 benign 0.04 deleterious 1 A0A087WT25 TULP1 Tubby-like protein Ensembl rs1561816892 6p21.31 6 35509273T> C null E G 253 253 missense 0.137 benign 0.13 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs752893191 6p21.31 6 35509271C> T null E K 254 254 missense 0.0 benign 0.17 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs765500202 6p21.31 6 35509261G> A null T M 257 257 missense 0.197 benign 0.13 tolerated 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC rs199572627 6p21.31 6 35509256T> G null I L 259 259 2.0E-4 missense 0.0 benign 0.16 tolerated 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2064317 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Leber congenital amaurosis 1 pubmed:17962469 6p21.31 6 35509255A> G null I T 259 259 0.394 missense 0.0 benign 1.0 tolerated 0 Leber congenital amaurosis 1 (LCA1) Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. MIM:204000 pubmed:20301475,pubmed:30285347,ClinVar:RCV000987690 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2064317 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Leber congenital amaurosis 1 pubmed:17962469 6p21.31 6 35509255A> G null I T 259 259 0.394 missense 0.0 benign 1.0 tolerated 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000263443 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2064317 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Leber congenital amaurosis 1 pubmed:17962469 6p21.31 6 35509255A> G null I T 259 259 0.394 missense 0.0 benign 1.0 tolerated 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000318574 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1484508324 6p21.31 6 35509250T> A null K * 261 261 stop gained 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2064318 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Leber congenital amaurosis 1 pubmed:15489334,pubmed:17962469,pubmed:9096357,pubmed:9462751 6p21.31 6 35509248C> G null K N 261 261 0.1615 missense 0.0 benign 1.0 tolerated 0 Leber congenital amaurosis 1 (LCA1) Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. MIM:204000 pubmed:20301475,pubmed:30285347,ClinVar:RCV000987689 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2064318 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Leber congenital amaurosis 1 pubmed:15489334,pubmed:17962469,pubmed:9096357,pubmed:9462751 6p21.31 6 35509248C> G null K N 261 261 0.1615 missense 0.0 benign 1.0 tolerated 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000353881 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2064318 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Leber congenital amaurosis 1 pubmed:15489334,pubmed:17962469,pubmed:9096357,pubmed:9462751 6p21.31 6 35509248C> G null K N 261 261 0.1615 missense 0.0 benign 1.0 tolerated 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000317728 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2064318 6p21.31 6 35509248C> A null K N 261 261 0.1615 missense 0.0 benign 1.0 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1232973181 6p21.31 6 35509246C> T null S N 262 262 missense 0.894 possibly damaging 0.25 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1345317249 6p21.31 6 35509235C> T null G S 266 266 missense 1.0 probably damaging 0.04 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150480343 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35509234C> A null G V 266 266 2.0E-4 missense 1.0 probably damaging 0.02 deleterious 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV001153677 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150480343 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35509234C> A null G V 266 266 2.0E-4 missense 1.0 probably damaging 0.02 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV001153678 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs768029952 6p21.31 6 35509228G> T null A D 268 268 missense 0.856 possibly damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl,dbSNP rs62636514 6p21.31 6 35509226T> G null K Q 269 269 missense 0.972 probably damaging 0.05 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs868771267 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35509222C> T null G E 270 270 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1274568757 6p21.31 6 35509214T> C null K E 273 273 missense 0.615 possibly damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs751304407 6p21.31 6 35506161C> A null A S 279 279 missense 0.72 possibly damaging 0.25 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1325372256 6p21.31 6 35506158G> C null P A 280 280 missense 0.035 benign 0.11 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1177612155 6p21.31 6 35506157G> A null P L 280 280 missense 0.012 benign 0.08 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1325372256 6p21.31 6 35506158G> A null P S 280 280 missense 0.131 benign 0.04 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1160503264 6p21.31 6 35506151G> A null P L 282 282 missense 0.899 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1031311902 6p21.31 6 35506152G> A null P S 282 282 missense 0.682 possibly damaging 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs202027935 6p21.31 6 35506149G> C null P A 283 283 missense 0.879 possibly damaging 0.05 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs752709618 6p21.31 6 35506148G> A null P L 283 283 missense 0.962 probably damaging 0.04 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs752709618 6p21.31 6 35506148G> C null P R 283 283 missense 0.947 probably damaging 0.1 tolerated 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs550761943 6p21.31 6 35506146C> T null V M 284 284 5.99E-4 missense 0.26 benign 0.17 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs773507803 6p21.31 6 35506141C> G null E D 285 285 missense 0.309 benign 0.13 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs770681790 6p21.31 6 35506143C> T null E K 285 285 missense 0.582 possibly damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs772447949 6p21.31 6 35506140C> T null V M 286 286 missense 0.968 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,NCI-TCGA,TOPMed,gnomAD rs779445674 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35506134C> T null E K 288 288 missense 0.175 benign 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140460892 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35506127C> T null R Q 290 290 2.0E-4 missense 0.0 benign 0.26 tolerated 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000365828 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140460892 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35506127C> T null R Q 290 290 2.0E-4 missense 0.0 benign 0.26 tolerated 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000306445 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1013492948 6p21.31 6 35506128G> A null R W 290 290 missense 0.499 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC rs780005757 6p21.31 6 35506123C> A null E D 291 291 missense 0.133 benign 0.19 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs777674253 6p21.31 6 35506112C> A null R L 295 295 missense 0.001 benign 0.05 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs777674253 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35506112C> T null R Q 295 295 missense 0.0 benign 0.33 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs151270439 6p21.31 6 35506113G> A null R W 295 295 missense 0.601 possibly damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1224808009 6p21.31 6 35506110G> A null P S 296 296 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1367382876 6p21.31 6 35506106G> A null A V 297 297 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201070350 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Leber congenital amaurosis, [ClinVar]: Retinitis pigmentosa 14 6p21.31 6 35506101G> A null Q * 299 299 2.0E-4 stop gained 0 Leber congenital amaurosis (LCA) MIM:PS204000 pubmed:20301475,ClinVar:RCV001251337 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201070350 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Leber congenital amaurosis, [ClinVar]: Retinitis pigmentosa 14 6p21.31 6 35506101G> A null Q * 299 299 2.0E-4 stop gained 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV001255925 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201070350 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Leber congenital amaurosis, [ClinVar]: Retinitis pigmentosa 14 6p21.31 6 35506101G> A null Q * 299 299 2.0E-4 stop gained 0 Retinitis pigmentosa 14 (RP14) MIM:600132 pubmed:20301590,ClinVar:RCV001028029 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201070350 6p21.31 6 35506101G> C null Q E 299 299 2.0E-4 missense 0.294 benign 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs765321084 6p21.31 6 35506098C> T null G S 300 300 missense 0.835 possibly damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs758964103 6p21.31 6 35506095G> A null R C 301 301 missense 0.938 probably damaging 0.19 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1171311001 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35506091G> A null T M 302 302 missense 0.905 possibly damaging 0.04 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs944741344 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35506086G> A null R C 304 304 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs944741344 6p21.31 6 35506086G> C null R G 304 304 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1185422927 6p21.31 6 35506085C> T null R H 304 304 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs944741344 6p21.31 6 35506086G> T null R S 304 304 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs910634429 6p21.31 6 35506081G> T null C * 305 305 stop gained 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs142310368 6p21.31 6 35506080G> C null R G 306 306 missense 0.669 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,gnomAD rs201303631 6p21.31 6 35506079C> T null R Q 306 306 2.0E-4 missense 0.472 possibly damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs142310368 6p21.31 6 35506080G> A null R W 306 306 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1240893955 6p21.31 6 35506073G> C null T S 308 308 missense 0.052 benign 0.16 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ESP,TOPMed,gnomAD rs373519519 6p21.31 6 35506071G> C null R G 309 309 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1279906432 6p21.31 6 35506070C> T null R Q 309 309 missense 0.913 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,TOPMed,dbSNP,gnomAD rs373519519 [ClinVar]: Leber congenital amaurosis 1 6p21.31 6 35506071G> A null R W 309 309 missense 0.998 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 1 (LCA1) Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. MIM:204000 pubmed:20301475,pubmed:30285347,ClinVar:RCV000987688 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1209056554 6p21.31 6 35506068C> G null D H 310 310 missense 0.744 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes rs552106100 6p21.31 6 35506064T> C null K R 311 311 2.0E-4 missense 0.436 benign 0.15 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1344579030 6p21.31 6 35506062T> C null K E 312 312 missense 0.239 benign 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1296458507 6p21.31 6 35506055A> C null M R 314 314 missense 0.244 benign 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1296458507 6p21.31 6 35506055A> G null M T 314 314 missense 0.127 benign 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1214001883 6p21.31 6 35506050G> A null R * 316 316 stop gained 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs986255916 6p21.31 6 35506049C> A null R L 316 316 missense 0.007 benign 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs986255916 6p21.31 6 35506049C> G null R P 316 316 missense 0.03 benign 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs762225895 6p21.31 6 35506046C> G null G A 317 317 missense 0.606 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs774837301 6p21.31 6 35506040T> C null Y C 319 319 missense 0.854 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein NCI-TCGA,dbSNP,gnomAD rs794726991 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6p21.31 6 35506041A> C null Y D 319 319 missense 0.518 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs749776323 6p21.31 6 35506031T> G null Y S 322 322 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,gnomAD rs531117205 6p21.31 6 35506029A> G null F L 323 323 2.0E-4 missense 0.01 benign 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs770319381 6p21.31 6 35506025A> C null L R 324 324 missense 0.895 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs769799170 6p21.31 6 35506020G> C null L V 326 326 missense 0.033 benign 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs899882673 6p21.31 6 35506016T> C null D G 327 327 missense 0.466 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs542428787 6p21.31 6 35506017C> T null D N 327 327 2.0E-4 missense 0.474 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1184064004 6p21.31 6 35506014T> C null T A 328 328 missense 0.003 benign 0.61 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs758251138 6p21.31 6 35506013G> A null T M 328 328 missense 0.175 benign 0.07 tolerated 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs914440997 6p21.31 6 35506011C> T null E K 329 329 missense 0.015 benign 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs778854532 6p21.31 6 35506008T> C null K E 330 330 missense 0.371 benign 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs1008900949 6p21.31 6 35505853C> G null V L 332 332 missense 0.025 benign 0.07 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs749227332 6p21.31 6 35505843A> G null L S 335 335 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs755646983 6p21.31 6 35505841C> G null A P 336 336 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs755646983 6p21.31 6 35505841C> A null A S 336 336 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC rs749869293 6p21.31 6 35505833C> A null R S 338 338 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs767030473 6p21.31 6 35505829G> A null R * 340 340 stop gained 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs767030473 6p21.31 6 35505829G> C null R G 340 340 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,NCI-TCGA,TOPMed,gnomAD rs756856544 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35505828C> T null R Q 340 340 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs751248635 6p21.31 6 35505822C> T null R Q 342 342 missense 0.945 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs764491852 6p21.31 6 35505819C> T null S N 343 343 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs763272975 [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35505806A> C null N K 347 347 missense 1.0 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV001073990 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs763272975 [ClinVar]: Retinal dystrophy, [ClinVar]: Retinitis pigmentosa 6p21.31 6 35505806A> C null N K 347 347 missense 1.0 probably damaging 0.0 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV001003241 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1363048393 6p21.31 6 35505807T> C null N S 347 347 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1194349379 6p21.31 6 35505795G> A null S F 351 351 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs753229995 6p21.31 6 35505792A> G null I T 352 352 missense 0.0 benign 0.71 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,dbSNP rs1085307806 [ClinVar]: Retinitis pigmentosa 6p21.31 6 35505790C> T null D N 353 353 missense 0.999 probably damaging 0.0 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV001249894 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs201836697 6p21.31 6 35505787G> C null P A 354 354 missense 0.996 probably damaging 0.08 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs201836697 cosmic curated [Cosmic]: lung pubmed:22980975,cosmic_study:431 6p21.31 6 35505787G> T null P T 354 354 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs760121380 6p21.31 6 35505783G> A null T I 355 355 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1486462553 6p21.31 6 35505780T> C null N S 356 356 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1486462553 6p21.31 6 35505780T> G null N T 356 356 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs776792706 6p21.31 6 35505777A> C null L R 357 357 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1237263305 6p21.31 6 35505772G> A null R * 359 359 stop gained 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,dbSNP,gnomAD rs1313593155 cosmic curated [ClinVar]: Retinal dystrophy, [Cosmic]: urinary_tract, [ClinVar]: Leber congenital amaurosis 1 pubmed:24121792,cosmic_study:557,cosmic_study:581 6p21.31 6 35505771C> T null R Q 359 359 missense 0.998 probably damaging 0.0 deleterious 1 Leber congenital amaurosis 1 (LCA1) Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. MIM:204000 pubmed:20301475,pubmed:30285347,ClinVar:RCV000987687 A0A087WT25 TULP1 Tubby-like protein TOPMed,dbSNP,gnomAD rs1313593155 cosmic curated [ClinVar]: Retinal dystrophy, [Cosmic]: urinary_tract, [ClinVar]: Leber congenital amaurosis 1 pubmed:24121792,cosmic_study:557,cosmic_study:581 6p21.31 6 35505771C> T null R Q 359 359 missense 0.998 probably damaging 0.0 deleterious 1 Retinal dystrophy ClinVar:RCV001074965 A0A087WT25 TULP1 Tubby-like protein ExAC,NCI-TCGA,gnomAD rs771156064 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35505768C> T null G E 360 360 missense 0.948 probably damaging 0.18 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1232955308 6p21.31 6 35505765C> T null G E 361 361 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP rs372809999 6p21.31 6 35505754T> A null I F 365 365 missense 0.693 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1299382694 6p21.31 6 35505750C> G null G A 366 366 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs387906837 [Ensembl]: Leber congenital amaurosis 15 (lca15) 6p21.31 6 35505751C> T null G R 366 366 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs387906837 [ClinVar]: Leber congenital amaurosis 15, [Ensembl]: Leber congenital amaurosis 15 (lca15) pubmed:15024725 pubmed:15024725 6p21.31 6 35505751C> A null G W 366 366 missense 1.0 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000023189 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs387906837 [ClinVar]: Leber congenital amaurosis 15, [Ensembl]: Leber congenital amaurosis 15 (lca15) pubmed:15024725 pubmed:15024725 6p21.31 6 35505751C> A null G W 366 366 missense 1.0 probably damaging 0.0 deleterious 0 Leber congenital amaurosis 15 (LCA15) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613843 pubmed:15024725,pubmed:17962469 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1384141830 6p21.31 6 35505741C> T null R K 369 369 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1452630590 6p21.31 6 35503848C> G null R S 369 369 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1215945140 6p21.31 6 35503846G> T null S Y 370 370 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs755390397 6p21.31 6 35503843T> C null N S 371 371 missense 0.185 benign 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs749599096 6p21.31 6 35503829G> A null R C 376 376 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs148749577 6p21.31 6 35503828C> T null R H 376 376 missense 0.999 probably damaging 0.03 deleterious 0 Retinitis pigmentosa 14 (RP14) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. MIM:600132 pubmed:15557452,pubmed:17620573,pubmed:19837063,pubmed:9462750,pubmed:9660588 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs148749577 6p21.31 6 35503828C> A null R L 376 376 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs756531522 6p21.31 6 35503823T> C null T A 378 378 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs750974590 cosmic curated [Cosmic]: stomach pubmed:22037554,cosmic_study:479 6p21.31 6 35503822G> A null T M 378 378 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs121909076 [ClinVar]: Retinitis pigmentosa, [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14 pubmed:15557452 pubmed:10440267,pubmed:15557452 6p21.31 6 35503816A> G null F S 380 380 missense 0.998 probably damaging 0.0 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000132649 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs121909076 [ClinVar]: Retinitis pigmentosa, [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14 pubmed:15557452 pubmed:10440267,pubmed:15557452 6p21.31 6 35503816A> G null F S 380 380 missense 0.998 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 14 (RP14) MIM:600132 pubmed:20301590,ClinVar:RCV000007787 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs121909076 [ClinVar]: Retinitis pigmentosa, [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14 pubmed:15557452 pubmed:10440267,pubmed:15557452 6p21.31 6 35503816A> G null F S 380 380 missense 0.998 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 14 (RP14) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. MIM:600132 pubmed:15557452,pubmed:17620573,pubmed:19837063,pubmed:9462750,pubmed:9660588 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs764362150 6p21.31 6 35503812G> T null D E 381 381 missense 0.569 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs144103321 6p21.31 6 35503811T> C null N D 382 382 missense 0.392 benign 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs766181526 6p21.31 6 35503808C> T null G R 383 383 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1213344179 6p21.31 6 35503805G> T null Q K 384 384 missense 0.003 benign 0.93 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC rs773239332 6p21.31 6 35503798G> T null P Q 386 386 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs547896346 6p21.31 6 35503795T> C null Q R 387 387 2.0E-4 missense 0.003 benign 0.4 tolerated 0 A0A087WT25 TULP1 Tubby-like protein NCI-TCGA,dbSNP,gnomAD rs370698517 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35503793G> A null R C 388 388 missense 0.916 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs139402633 6p21.31 6 35503792C> T null R H 388 388 missense 0.007 benign 0.08 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs370698517 6p21.31 6 35503793G> T null R S 388 388 missense 0.594 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1364704579 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35503789C> T null G E 389 389 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1156856473 6p21.31 6 35503784T> C null S G 391 391 missense 0.0 benign 0.7 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1430615445 6p21.31 6 35503777T> G null N T 393 393 missense 0.041 benign 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1325089896 6p21.31 6 35503774A> G null V A 394 394 missense 0.015 benign 0.42 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1315173227 6p21.31 6 35503771G> T null A E 395 395 missense 0.003 benign 0.3 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs768366342 6p21.31 6 35503767G> C null S R 396 396 missense 0.051 benign 0.29 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs774002721 6p21.31 6 35503768C> G null S T 396 396 missense 0.171 benign 0.15 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,NCI-TCGA,gnomAD rs748972748 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6p21.31 6 35503762C> T null R Q 398 398 missense 0.963 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein NCI-TCGA,TOPMed,dbSNP rs387906836 cosmic curated [ClinVar]: Brachydactyly, [ClinVar]: Leber congenital amaurosis 15, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Ensembl]: Leber congenital amaurosis 15 (lca15), [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:15024725 pubmed:15024725,cosmic_study:413 6p21.31 6 35503763G> A null R W 398 398 missense 0.998 probably damaging 0.0 deleterious 1 Brachydactyly ClinVar:RCV000852373 A0A087WT25 TULP1 Tubby-like protein NCI-TCGA,TOPMed,dbSNP rs387906836 cosmic curated [ClinVar]: Brachydactyly, [ClinVar]: Leber congenital amaurosis 15, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Ensembl]: Leber congenital amaurosis 15 (lca15), [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:15024725 pubmed:15024725,cosmic_study:413 6p21.31 6 35503763G> A null R W 398 398 missense 0.998 probably damaging 0.0 deleterious 1 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000023188 A0A087WT25 TULP1 Tubby-like protein NCI-TCGA,TOPMed,dbSNP rs387906836 cosmic curated [ClinVar]: Brachydactyly, [ClinVar]: Leber congenital amaurosis 15, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Ensembl]: Leber congenital amaurosis 15 (lca15), [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:15024725 pubmed:15024725,cosmic_study:413 6p21.31 6 35503763G> A null R W 398 398 missense 0.998 probably damaging 0.0 deleterious 1 Leber congenital amaurosis 15 (LCA15) A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. MIM:613843 pubmed:15024725,pubmed:17962469 A0A087WT25 TULP1 Tubby-like protein NCI-TCGA,TOPMed,dbSNP rs387906836 cosmic curated [ClinVar]: Brachydactyly, [ClinVar]: Leber congenital amaurosis 15, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Ensembl]: Leber congenital amaurosis 15 (lca15), [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:15024725 pubmed:15024725,cosmic_study:413 6p21.31 6 35503763G> A null R W 398 398 missense 0.998 probably damaging 0.0 deleterious 1 Non-syndromic syndactyly ClinVar:RCV000852373 A0A087WT25 TULP1 Tubby-like protein NCI-TCGA,TOPMed,dbSNP rs387906836 cosmic curated [ClinVar]: Brachydactyly, [ClinVar]: Leber congenital amaurosis 15, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Ensembl]: Leber congenital amaurosis 15 (lca15), [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:15024725 pubmed:15024725,cosmic_study:413 6p21.31 6 35503763G> A null R W 398 398 missense 0.998 probably damaging 0.0 deleterious 1 Postaxial polydactyly type A1 (PAPA1) MIM:174200 ClinVar:RCV000852373 A0A087WT25 TULP1 Tubby-like protein NCI-TCGA,TOPMed,dbSNP rs387906836 cosmic curated [ClinVar]: Brachydactyly, [ClinVar]: Leber congenital amaurosis 15, [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Ensembl]: Leber congenital amaurosis 15 (lca15), [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:15024725 pubmed:15024725,cosmic_study:413 6p21.31 6 35503763G> A null R W 398 398 missense 0.998 probably damaging 0.0 deleterious 1 Retinal degeneration ClinVar:RCV000852373 A0A087WT25 TULP1 Tubby-like protein Ensembl,dbSNP rs387906835 [ClinVar]: Leber congenital amaurosis 15, [Ensembl]: Leber congenital amaurosis 15 (lca15) pubmed:15024725 6p21.31 6 35503757C> A null E * 400 400 stop gained 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV000023187 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1185913595 6p21.31 6 35503754G> C null L V 401 401 missense 0.456 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1259437108 6p21.31 6 35503748C> T null A T 403 403 missense 0.82 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1474735397 6p21.31 6 35503653G> T null T N 408 408 missense 0.933 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs377376210 6p21.31 6 35503649G> T null N K 409 409 2.0E-4 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs761670562 6p21.31 6 35503648C> A null V L 410 410 missense 0.282 benign 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs761670562 6p21.31 6 35503648C> T null V M 410 410 missense 0.949 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs200769197 6p21.31 6 35503636G> A null R C 414 414 2.0E-4 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs765597804 6p21.31 6 35503635C> T null R H 414 414 missense 0.949 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,TOPMed rs370137599 6p21.31 6 35503633C> T null G S 415 415 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,dbSNP,gnomAD rs770045008 6p21.31 6 35503626C> T null R Q 417 417 missense 0.146 benign 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs775334320 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:416 6p21.31 6 35503627G> A null R W 417 417 missense 0.99 probably damaging 0.0 deleterious 1 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs551519696 6p21.31 6 35503624G> A null R C 418 418 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl,dbSNP rs121909073 [Ensembl]: Retinitis pigmentosa 14 (rp14) 6p21.31 6 35503623C> T null R H 418 418 missense 0.949 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl,dbSNP rs121909073 [UniProt]: no effect on RPE phagocytosis, [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14 pubmed:19837063,pubmed:9462750 pubmed:9462750 6p21.31 6 35503623C> G null R P 418 418 missense 0.982 probably damaging 0.02 deleterious 0 Retinitis pigmentosa 14 (RP14) MIM:600132 pubmed:20301590,ClinVar:RCV000007782 A0A087WT25 TULP1 Tubby-like protein Ensembl,dbSNP rs121909073 [UniProt]: no effect on RPE phagocytosis, [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14 pubmed:19837063,pubmed:9462750 pubmed:9462750 6p21.31 6 35503623C> G null R P 418 418 missense 0.982 probably damaging 0.02 deleterious 0 Retinitis pigmentosa 14 (RP14) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. MIM:600132 pubmed:15557452,pubmed:17620573,pubmed:19837063,pubmed:9462750,pubmed:9660588 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs551519696 6p21.31 6 35503624G> T null R S 418 418 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,dbSNP,gnomAD rs771407316 6p21.31 6 35503621T> G null M L 419 419 missense 0.525 possibly damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs1353889575 6p21.31 6 35503620A> G null M T 419 419 missense 0.86 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs771407316 6p21.31 6 35503621T> C null M V 419 419 missense 0.714 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1297122363 6p21.31 6 35503617G> A null T I 420 420 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1287037165 6p21.31 6 35503618T> G null T P 420 420 missense 0.982 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl,dbSNP rs1554125521 [ClinVar]: Retinitis pigmentosa 6p21.31 6 35503614A> G null V A 421 421 missense 0.73 possibly damaging 0.0 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV001199561 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs749859066 6p21.31 6 35503615C> T null V I 421 421 missense 0.023 benign 0.09 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs749859066 6p21.31 6 35503615C> G null V L 421 421 missense 0.241 benign 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1273940246 6p21.31 6 35503612T> C null I V 422 422 missense 0.015 benign 0.09 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1460828547 6p21.31 6 35503603C> T null G S 425 425 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1392105677 6p21.31 6 35503602C> A null G V 425 425 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1262798715 6p21.31 6 35503599A> G null M T 426 426 missense 0.537 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1032495895 6p21.31 6 35503593G> A null A V 428 428 missense 0.06 benign 0.16 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs752893076 6p21.31 6 35503586G> C null N K 430 430 missense 0.054 benign 0.04 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs752893076 6p21.31 6 35503586G> T null N K 430 430 missense 0.054 benign 0.04 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs750175118 6p21.31 6 35503583C> G null E D 431 431 missense 0.19 benign 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs757339709 6p21.31 6 35503584T> C null E G 431 431 missense 0.74 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs74461100 6p21.31 6 35503585C> T null E K 431 431 7.99E-4 missense 0.084 benign 0.12 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1179321594 6p21.31 6 35503582T> C null R G 432 432 missense 0.9 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs767238639 6p21.31 6 35503576G> C null P A 434 434 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs761803877 6p21.31 6 35503569C> T null R Q 436 436 missense 0.146 benign 0.24 tolerated 0 A0A087WT25 TULP1 Tubby-like protein NCI-TCGA,gnomAD rs753820059 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6p21.31 6 35503570G> A null R W 436 436 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1305801234 6p21.31 6 35503567G> T null P T 437 437 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs751589956 6p21.31 6 35503564G> A null R * 438 438 stop gained 0 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs763677426 6p21.31 6 35503563C> T null R Q 438 438 missense 0.869 possibly damaging 0.2 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1340933496 6p21.31 6 35500152C> T null A T 440 440 missense 0.073 benign 0.41 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs772500923 6p21.31 6 35500149T> A null S C 441 441 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1423449256 6p21.31 6 35500148C> A null S I 441 441 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs774448249 6p21.31 6 35500144G> C null D E 442 442 missense 0.995 probably damaging 0.54 tolerated 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138400030 6p21.31 6 35500146C> T null D N 442 442 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs749502078 6p21.31 6 35500142C> T null G D 443 443 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs181172036 6p21.31 6 35500143C> T null G S 443 443 2.0E-4 missense 1.0 probably damaging 0.45 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1480273410 6p21.31 6 35500131G> A null R C 447 447 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1487555931 6p21.31 6 35500125G> C null Q E 449 449 missense 0.988 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs1561812394 6p21.31 6 35500121T> C null N S 450 450 missense 0.991 probably damaging 0.1 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs777719248 6p21.31 6 35500117C> A null K N 451 451 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,gnomAD rs546453354 6p21.31 6 35500118T> C null K R 451 451 2.0E-4 missense 0.998 probably damaging 0.13 tolerated 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs138200747 6p21.31 6 35500115G> T null T K 452 452 3.99E-4 missense 0.885 possibly damaging 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs138200747 6p21.31 6 35500115G> A null T M 452 452 3.99E-4 missense 0.985 probably damaging 0.01 deleterious 0 Retinitis pigmentosa 14 (RP14) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. MIM:600132 pubmed:15557452,pubmed:17620573,pubmed:19837063,pubmed:9462750,pubmed:9660588 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1338863561 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35500106C> T null S N 455 455 missense 0.849 possibly damaging 0.87 tolerated 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1309243072 6p21.31 6 35500104G> A null L F 456 456 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs121909075 [UniProt]: no effect on RPE phagocytosis, [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14 pubmed:19837063,pubmed:9462750 pubmed:9462750 6p21.31 6 35500100A> T null I K 457 457 0.002196 missense 0.969 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 14 (RP14) MIM:600132 pubmed:20301590,ClinVar:RCV000007784 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs121909075 [UniProt]: no effect on RPE phagocytosis, [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14 pubmed:19837063,pubmed:9462750 pubmed:9462750 6p21.31 6 35500100A> T null I K 457 457 0.002196 missense 0.969 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 14 (RP14) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. MIM:600132 pubmed:15557452,pubmed:17620573,pubmed:19837063,pubmed:9462750,pubmed:9660588 A0A087WT25 TULP1 Tubby-like protein Ensembl,dbSNP rs281865533 6p21.31 6 35500101T> G null I L 457 457 missense 0.689 possibly damaging 0.07 tolerated 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs121909075 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Ensembl]: Retinitis pigmentosa 14 (rp14) 6p21.31 6 35500100A> G null I T 457 457 0.002196 missense 0.961 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs753517944 6p21.31 6 35500098C> G null E Q 458 458 missense 0.57 possibly damaging 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs766088997 6p21.31 6 35500095G> C null L V 459 459 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs767899721 6p21.31 6 35500090G> T null H Q 460 460 missense 0.898 possibly damaging 0.17 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs773507942 6p21.31 6 35500091T> C null H R 460 460 missense 0.854 possibly damaging 0.04 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs760326438 6p21.31 6 35500092G> A null H Y 460 460 missense 0.068 benign 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs775196326 6p21.31 6 35500087G> C null N K 461 461 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs771867194 6p21.31 6 35500086T> G null K Q 462 462 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs1036874387 6p21.31 6 35500082G> C null P R 463 463 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs112710652 6p21.31 6 35500083G> T null P T 463 463 missense 0.999 probably damaging 0.63 tolerated 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs943902351 6p21.31 6 35500080G> A null P S 464 464 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs762348395 6p21.31 6 35500077C> T null V I 465 465 missense 0.003 benign 0.22 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs774767185 6p21.31 6 35500070T> C null N S 467 467 missense 0.996 probably damaging 0.1 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs866341403 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35500068C> T null D N 468 468 missense 0.185 benign 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1288954458 6p21.31 6 35500065C> T null D N 469 469 missense 0.405 benign 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1207774425 6p21.31 6 35500062T> C null S G 470 470 missense 0.847 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs1561812300 6p21.31 6 35500061C> T null S N 470 470 missense 0.802 possibly damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs749392203 6p21.31 6 35500049G> T null T N 474 474 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs770079177 6p21.31 6 35500042G> T null N K 476 476 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs138537513 6p21.31 6 35500043T> C null N S 476 476 missense 0.991 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs138537513 6p21.31 6 35500043T> G null N T 476 476 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP rs368559087 6p21.31 6 35500036T> A null Q H 478 478 missense 0.998 probably damaging 1.0 tolerated 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,gnomAD rs146311742 6p21.31 6 35500031C> T null R Q 480 480 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,dbSNP,gnomAD rs121909077 [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14 pubmed:17620573 pubmed:17620573 6p21.31 6 35500032G> A null R W 480 480 missense 1.0 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 14 (RP14) MIM:600132 pubmed:20301590,ClinVar:RCV000007788 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,dbSNP,gnomAD rs121909077 [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14 pubmed:17620573 pubmed:17620573 6p21.31 6 35500032G> A null R W 480 480 missense 1.0 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 14 (RP14) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. MIM:600132 pubmed:15557452,pubmed:17620573,pubmed:19837063,pubmed:9462750,pubmed:9660588 A0A087WT25 TULP1 Tubby-like protein Ensembl rs953685924 6p21.31 6 35500025G> A null T I 482 482 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs982387647 6p21.31 6 35500019G> T null A D 484 484 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs1561812265 6p21.31 6 35500020C> T null A T 484 484 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,dbSNP,gnomAD rs62636511 [UniProt]: abolishes RPE phagocytosis pubmed:19837063,pubmed:9660588 6p21.31 6 35500010T> C null K R 487 487 missense 0.998 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 14 (RP14) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. MIM:600132 pubmed:15557452,pubmed:17620573,pubmed:19837063,pubmed:9462750,pubmed:9660588 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,dbSNP,gnomAD rs121909074 [ClinVar]: Retinal dystrophy, [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14, [UniProt]: abolishes RPE phagocytosis pubmed:19837063,pubmed:9462750 pubmed:9462750 6p21.31 6 35500005A> G null F L 489 489 missense 0.999 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV001074767 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,dbSNP,gnomAD rs121909074 [ClinVar]: Retinal dystrophy, [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14, [UniProt]: abolishes RPE phagocytosis pubmed:19837063,pubmed:9462750 pubmed:9462750 6p21.31 6 35500005A> G null F L 489 489 missense 0.999 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 14 (RP14) MIM:600132 pubmed:20301590,ClinVar:RCV000007783 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,dbSNP,gnomAD rs121909074 [ClinVar]: Retinal dystrophy, [Ensembl]: Retinitis pigmentosa 14 (rp14), [ClinVar]: Retinitis pigmentosa 14, [UniProt]: abolishes RPE phagocytosis pubmed:19837063,pubmed:9462750 pubmed:9462750 6p21.31 6 35500005A> G null F L 489 489 missense 0.999 probably damaging 0.0 deleterious 0 Retinitis pigmentosa 14 (RP14) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. MIM:600132 pubmed:15557452,pubmed:17620573,pubmed:19837063,pubmed:9462750,pubmed:9660588 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs754507488 6p21.31 6 35499997A> C null I M 491 491 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs1424643640 6p21.31 6 35499992T> C null H R 493 493 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141980901 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa, [UniProt]: unknown pathological significance pubmed:17962469,pubmed:9660588 6p21.31 6 35499990C> T null A T 494 494 0.001398 missense 0.871 possibly damaging 0.3 tolerated 0 Leber congenital amaurosis 15 (LCA15) MIM:613843 pubmed:20301475,pubmed:30285347,ClinVar:RCV001156200 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141980901 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa, [UniProt]: unknown pathological significance pubmed:17962469,pubmed:9660588 6p21.31 6 35499990C> T null A T 494 494 0.001398 missense 0.871 possibly damaging 0.3 tolerated 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV001156199 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs141980901 [ClinVar]: Leber congenital amaurosis 15, [ClinVar]: Retinitis pigmentosa, [UniProt]: unknown pathological significance pubmed:17962469,pubmed:9660588 6p21.31 6 35499990C> T null A T 494 494 0.001398 missense 0.871 possibly damaging 0.3 tolerated 0 Retinitis pigmentosa 14 (RP14) A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. MIM:600132 pubmed:15557452,pubmed:17620573,pubmed:19837063,pubmed:9462750,pubmed:9660588 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1395715533 6p21.31 6 35499989G> A null A V 494 494 missense 0.909 probably damaging 0.15 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,gnomAD rs62636515 6p21.31 6 35499984C> T null D N 496 496 missense 0.999 probably damaging 0.1 tolerated 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138772407 6p21.31 6 35499981G> C null P A 497 497 2.0E-4 missense 0.135 benign 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1279250619 6p21.31 6 35498460G> T null P H 497 497 missense 0.845 possibly damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs138772407 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35499981G> A null P S 497 497 2.0E-4 missense 0.051 benign 0.05 tolerated 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1337993102 6p21.31 6 35498458C> T null D N 498 498 missense 0.837 possibly damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs756934881 6p21.31 6 35498454T> A null Y F 499 499 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs751810148 6p21.31 6 35498452T> A null I F 500 500 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs921952417 6p21.31 6 35498451A> T null I N 500 500 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs763333253 6p21.31 6 35498436C> A null G V 505 505 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs751036771 6p21.31 6 35498434G> A null R C 506 506 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs751036771 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35498434G> T null R S 506 506 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,gnomAD rs201496818 6p21.31 6 35498431C> G null V L 507 507 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein 1000Genomes,ExAC,NCI-TCGA,gnomAD rs201496818 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35498431C> T null V M 507 507 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs759749871 6p21.31 6 35498428C> T null A T 508 508 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1419738633 6p21.31 6 35498427G> A null A V 508 508 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1237035911 6p21.31 6 35498424T> C null E G 509 509 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1483699085 6p21.31 6 35498425C> T null E K 509 509 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs369456367 6p21.31 6 35498422C> T null D N 510 510 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1345275814 6p21.31 6 35498410G> C null L V 514 514 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs868633323 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:452 6p21.31 6 35498401G> A null R W 517 517 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,dbSNP,gnomAD rs773968778 [ClinVar]: Leber congenital amaurosis 1 6p21.31 6 35498396G> T null Y * 518 518 stop gained 0 Leber congenital amaurosis 1 (LCA1) Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. MIM:204000 pubmed:20301475,pubmed:30285347,ClinVar:RCV000987685 A0A087WT25 TULP1 Tubby-like protein TOPMed rs1213597486 6p21.31 6 35498388C> T null C Y 521 521 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs376519980 6p21.31 6 35498386C> T null A T 522 522 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein Ensembl rs977655455 6p21.31 6 35498385G> A null A V 522 522 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs775463307 6p21.31 6 35498377C> A null A S 525 525 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1330653472 6p21.31 6 35498370G> T null A D 527 527 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,NCI-TCGA,TOPMed,gnomAD rs374698671 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6p21.31 6 35498365C> T null A T 529 529 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WT25 TULP1 Tubby-like protein ExAC,gnomAD rs769287941 6p21.31 6 35498359A> G null S P 531 531 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ESP,ExAC,TOPMed,gnomAD rs371431040 6p21.31 6 35498356T> C null S G 532 532 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein TOPMed,gnomAD rs1214120406 6p21.31 6 35498351G> T null F L 533 533 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein ExAC,TOPMed,gnomAD rs756806899 6p21.31 6 35498348G> T null D E 534 534 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1238833395 6p21.31 6 35498347C> T null G R 535 535 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT25 TULP1 Tubby-like protein gnomAD rs1238833395 6p21.31 6 35498347C> A null G W 535 535 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,NCI-TCGA,gnomAD rs775727582 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q22.1 16 70762889G> A null P S 2 2 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs1161592640 16q22.1 16 70762885C> T null R Q 3 3 missense 0.928 probably damaging 0.17 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs144772551 16q22.1 16 70762886G> A null R W 3 3 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs751105042 16q22.1 16 70762603C> T null M I 5 5 missense 0.966 probably damaging 0.28 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1366222739 16q22.1 16 70762601A> G null F S 6 6 missense 0.779 possibly damaging 0.01 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,TOPMed,gnomAD rs199713327 16q22.1 16 70762598C> T null R Q 7 7 missense 0.63 possibly damaging 0.13 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs142411323 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q22.1 16 70762599G> A null R W 7 7 missense 0.988 probably damaging 0.08 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1376958467 16q22.1 16 70762595T> G null H P 8 8 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs765468875 16q22.1 16 70762594G> T null H Q 8 8 missense 1.0 probably damaging 0.05 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1246234260 16q22.1 16 70762593T> C null T A 9 9 missense 0.462 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1414241380 16q22.1 16 70762592G> C null T R 9 9 missense 0.988 probably damaging 0.01 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1370579571 16q22.1 16 70762590C> T null D N 10 10 missense 0.976 probably damaging 0.01 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs766459658 16q22.1 16 70762587T> G null S R 11 11 missense 0.981 probably damaging 0.16 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,TOPMed,gnomAD rs773245636 16q22.1 16 70762584G> A null L F 12 12 missense 0.654 possibly damaging 0.05 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,TOPMed,gnomAD rs773245636 16q22.1 16 70762584G> C null L V 12 12 missense 0.977 probably damaging 0.04 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1210703688 16q22.1 16 70762572G> C null L V 16 16 missense 0.945 probably damaging 0.05 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs764069338 16q22.1 16 70762569G> C null L V 17 17 missense 0.612 possibly damaging 0.01 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs775390188 16q22.1 16 70762565T> A null Q L 18 18 missense 0.467 possibly damaging 0.02 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1310179069 16q22.1 16 70762562G> A null T M 19 19 missense 0.975 probably damaging 0.03 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,ExAC,gnomAD rs200148827 16q22.1 16 70762556G> A null S L 21 21 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1479724788 16q22.1 16 70762549T> G null E D 23 23 missense 0.347 benign 0.18 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs770698627 16q22.1 16 70762547G> A null S L 24 24 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs1356330207 16q22.1 16 70744567C> T null D N 31 31 missense 1.0 probably damaging 0.08 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,TOPMed,gnomAD rs773766563 16q22.1 16 70744561C> T null E K 33 33 missense 0.999 probably damaging 0.05 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs142738285 cosmic curated [Cosmic]: skin pubmed:21499247,cosmic_study:348 16q22.1 16 70744549C> T null E K 37 37 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs558529239 16q22.1 16 70744543C> G null A P 39 39 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs558529239 16q22.1 16 70744543C> T null A T 39 39 missense 0.998 probably damaging 0.05 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs1009013830 16q22.1 16 70744536G> A null S F 41 41 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1251013874 16q22.1 16 70744537A> G null S P 41 41 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1404485733 16q22.1 16 70744533G> A null P L 42 42 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,TOPMed,gnomAD rs770285832 16q22.1 16 70744531C> G null A P 43 43 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,TOPMed,gnomAD rs770285832 16q22.1 16 70744531C> A null A S 43 43 missense 1.0 probably damaging 0.07 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,TOPMed,gnomAD rs770285832 16q22.1 16 70744531C> T null A T 43 43 missense 1.0 probably damaging 0.05 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs887210791 16q22.1 16 70744530G> A null A V 43 43 missense 1.0 probably damaging 0.05 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1365966462 16q22.1 16 70744523C> A null Q H 45 45 missense 0.723 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs371463788 16q22.1 16 70744521G> A null T M 46 46 missense 0.63 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs373193908 16q22.1 16 70744518T> C null D G 47 47 missense 0.099 benign 0.06 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs1225463427 16q22.1 16 70744519C> T null D N 47 47 missense 0.856 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs758492587 16q22.1 16 70744510C> T null G S 50 50 missense 0.684 possibly damaging 0.12 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs1255302324 16q22.1 16 70744509C> A null G V 50 50 missense 0.984 probably damaging 0.01 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs750208158 16q22.1 16 70744500T> G null D A 53 53 missense 0.794 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374970425 16q22.1 16 70744501C> T null D N 53 53 2.0E-4 missense 0.202 benign 0.12 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1403477403 16q22.1 16 70744497C> A null G V 54 54 missense 0.749 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs756866056 16q22.1 16 70744488A> G null L P 57 57 missense 0.049 benign 0.06 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs1567559530 16q22.1 16 70744482G> T null A D 59 59 missense 0.452 possibly damaging 0.17 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs751167584 16q22.1 16 70744483C> G null A P 59 59 missense 0.006 benign 0.28 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs762520287 16q22.1 16 70744461A> G null V A 66 66 missense 0.221 benign 0.07 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1241557035 16q22.1 16 70744459G> C null P A 67 67 missense 0.927 probably damaging 0.01 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs765786214 16q22.1 16 70744452G> A null P L 69 69 missense 0.049 benign 0.07 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs774953912 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q22.1 16 70744453G> A null P S 69 69 missense 0.09 benign 0.27 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs371294187 16q22.1 16 70744441C> G null G R 73 73 missense 0.896 possibly damaging 0.08 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs371294187 16q22.1 16 70744441C> T null G S 73 73 missense 0.095 benign 0.26 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1472256001 16q22.1 16 70744434A> C null L R 75 75 missense 0.953 probably damaging 0.06 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1228127778 16q22.1 16 70744429T> C null T A 77 77 missense 0.034 benign 0.17 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1163519184 16q22.1 16 70744428G> A null T I 77 77 missense 0.082 benign 0.06 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs752276036 16q22.1 16 70731621T> G null K T 81 81 missense 0.813 possibly damaging 0.05 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1369464810 16q22.1 16 70731618C> T null G D 82 82 missense 0.948 probably damaging 0.04 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs977853677 16q22.1 16 70731616A> C null L V 83 83 missense 0.327 benign 0.07 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1249275309 16q22.1 16 70731613C> T null E K 84 84 missense 0.933 probably damaging 0.22 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs374403720 16q22.1 16 70731603G> T null P H 87 87 missense 0.998 probably damaging 0.05 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs374403720 16q22.1 16 70731603G> A null P L 87 87 missense 0.995 probably damaging 0.01 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1433755373 16q22.1 16 70731598T> C null T A 89 89 missense 0.259 benign 0.06 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs754572296 16q22.1 16 70731595G> A null P S 90 90 missense 1.0 probably damaging 0.03 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1300068501 16q22.1 16 70731592T> G null T P 91 91 missense 0.162 benign 0.03 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,TOPMed,gnomAD rs766949500 16q22.1 16 70731589T> C null M V 92 92 missense 0.661 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1311742452 16q22.1 16 70731579T> C null Y C 95 95 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs922559619 16q22.1 16 70731573T> C null Y C 97 97 missense 0.993 probably damaging 0.1 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1251651130 16q22.1 16 70731571T> C null K E 98 98 missense 0.885 possibly damaging 0.03 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1322113594 16q22.1 16 70731569C> G null K N 98 98 missense 0.979 probably damaging 0.01 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,gnomAD rs150905846 16q22.1 16 70731558T> C null N S 102 102 missense 0.916 probably damaging 0.44 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1409000959 16q22.1 16 70731549T> C null K R 105 105 missense 0.17 benign 0.28 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs558322430 16q22.1 16 70731535C> T null E K 110 110 3.99E-4 missense 0.95 probably damaging 0.01 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,TOPMed,gnomAD rs199765140 16q22.1 16 70731531C> T null R Q 111 111 2.0E-4 missense 0.411 benign 0.14 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,NCI-TCGA,gnomAD rs768997434 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q22.1 16 70731532G> A null R W 111 111 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs1200710758 16q22.1 16 70731527C> G null K N 112 112 missense 0.984 probably damaging 0.02 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1248946055 16q22.1 16 70731525A> G null L P 113 113 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs763136943 16q22.1 16 70731526G> C null L V 113 113 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,TOPMed rs148622418 16q22.1 16 70731522A> C null L R 114 114 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1257219619 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q22.1 16 70731516A> G null V A 116 116 missense 0.015 benign 0.74 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1197913568 16q22.1 16 70731507G> C null P R 119 119 missense 0.651 possibly damaging 0.06 tolerated 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs200405116 16q22.1 16 70731483G> A null A V 127 127 2.0E-4 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs778605654 16q22.1 16 70731480G> T null A E 128 128 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,gnomAD rs778605654 16q22.1 16 70731480G> A null A V 128 128 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,TOPMed,gnomAD rs753438305 16q22.1 16 70731478G> A null R C 129 129 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376169923 16q22.1 16 70731477C> T null R H 129 129 3.99E-4 missense 0.0 unknown 0.18 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1336268178 16q22.1 16 70731472G> A null L F 131 131 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs1408308256 16q22.1 16 70731464G> T null F L 133 133 missense 0.0 unknown 0.64 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,ExAC,gnomAD rs201729217 16q22.1 16 70731460G> A null P S 135 135 2.0E-4 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs564506053 16q22.1 16 70731456C> A null R L 136 136 2.0E-4 missense 0.0 unknown 0.68 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs564506053 16q22.1 16 70731456C> T null R Q 136 136 2.0E-4 missense 0.0 unknown 0.39 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs369499574 16q22.1 16 70731457G> A null R W 136 136 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1441551777 16q22.1 16 70731450C> T null R Q 138 138 missense 0.0 unknown 0.3 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ESP,ExAC,TOPMed,gnomAD rs375183896 16q22.1 16 70731451G> A null R W 138 138 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) ExAC,TOPMed,gnomAD rs763032542 16q22.1 16 70731448G> A null L F 139 139 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1286423144 16q22.1 16 70731442T> C null T A 141 141 missense 0.0 unknown 0.1 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs776858572 16q22.1 16 70731437G> C null F L 142 142 missense 0.0 unknown 0.29 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs776858572 16q22.1 16 70731437G> T null F L 142 142 missense 0.0 unknown 0.29 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs768802913 16q22.1 16 70731435G> A null T M 143 143 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1256844307 16q22.1 16 70731436T> G null T P 143 143 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed,gnomAD rs775636680 16q22.1 16 70731423C> T null C Y 147 147 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs1567547001 16q22.1 16 70731421G> C null Q E 148 148 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1015162375 16q22.1 16 70731417C> T null S N 149 149 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1004686065 16q22.1 16 70731412G> A null H Y 151 151 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,TOPMed,gnomAD rs114269581 16q22.1 16 70731408A> T null L H 152 152 0.004593 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,TOPMed,gnomAD rs114269581 16q22.1 16 70731408A> C null L R 152 152 0.004593 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1436252403 16q22.1 16 70731405A> G null L P 153 153 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs894660870 16q22.1 16 70731391G> C null L V 158 158 missense 0.0 unknown 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1048984547 16q22.1 16 70731387A> T null L H 159 159 missense 0.0 unknown 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1365529051 16q22.1 16 70731381A> T null F Y 161 161 missense 0.0 unknown 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes rs560411482 16q22.1 16 70731375G> A null T I 163 163 2.0E-4 missense 0.0 unknown 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs936087192 16q22.1 16 70731366G> A null S F 166 166 missense 0.0 unknown 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes rs192080097 16q22.1 16 70731364C> T null V I 167 167 2.0E-4 missense 0.0 unknown 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes rs574707136 16q22.1 16 70731355C> T null E K 170 170 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs1041697414 16q22.1 16 70731350T> G null E D 171 171 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs904627299 16q22.1 16 70731352C> T null E K 171 171 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) gnomAD rs1393438623 16q22.1 16 70731345C> T null C Y 173 173 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs879205790 16q22.1 16 70731334G> C null L V 177 177 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) 1000Genomes,TOPMed,gnomAD rs2290615 16q22.1 16 70731327G> C null A G 179 179 0.008187 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs922487833 16q22.1 16 70731325C> A null D Y 180 180 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs905516198 16q22.1 16 70731322C> T null A T 181 181 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1045427472 16q22.1 16 70731321G> A null A V 181 181 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) Ensembl rs976657298 16q22.1 16 70731315T> C null D G 183 183 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs949839090 16q22.1 16 70731312A> G null M T 184 184 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs1483596172 16q22.1 16 70731313T> C null M V 184 184 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT26 VAC14 Protein VAC14 homolog (Fragment) TOPMed rs913016889 16q22.1 16 70731309T> C null K R 185 185 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl,dbSNP rs267608260 [ClinVar]: Immunodeficiency 23, [UniProt]: decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance, [ClinVar]: Hyper-IgE syndrome pubmed:24698316 pubmed:24698316,pubmed:3500672 6q14.1 6 83188755A> G null L S 2 2 missense 0.983 probably damaging 0.0 deleterious 0 Hyper-IgE syndrome ClinVar:RCV000144537 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl,dbSNP rs267608260 [ClinVar]: Immunodeficiency 23, [UniProt]: decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance, [ClinVar]: Hyper-IgE syndrome pubmed:24698316 pubmed:24698316,pubmed:3500672 6q14.1 6 83188755A> G null L S 2 2 missense 0.983 probably damaging 0.0 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000119832 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl,dbSNP rs267608260 [ClinVar]: Immunodeficiency 23, [UniProt]: decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance, [ClinVar]: Hyper-IgE syndrome pubmed:24698316 pubmed:24698316,pubmed:3500672 6q14.1 6 83188755A> G null L S 2 2 missense 0.983 probably damaging 0.0 deleterious 0 Immunodeficiency 23 (IMD23) A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. MIM:615816 pubmed:24589341,pubmed:24698316,pubmed:24931394 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1230638188 6q14.1 6 83188746G> A null S F 5 5 missense 0.201 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1323403047 6q14.1 6 83188731G> T null A D 10 10 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs764215706 6q14.1 6 83188725C> T null C Y 12 12 missense 0.0 benign 0.15 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1296862413 6q14.1 6 83188717T> C null N D 15 15 missense 0.452 possibly damaging 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs772568256 6q14.1 6 83188700A> C null D E 20 20 missense 0.0 benign 0.73 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs775939917 6q14.1 6 83188702C> G null D H 20 20 missense 0.003 benign 0.05 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs759833870 6q14.1 6 83188697C> T null M I 21 21 missense 0.0 benign 0.09 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1170105678 6q14.1 6 83188698A> G null M T 21 21 missense 0.0 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1033477931 6q14.1 6 83188693T> A null R * 23 23 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1311114688 6q14.1 6 83188689A> G null V A 24 24 missense 0.0 benign 0.73 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs774682150 6q14.1 6 83188690C> T null V M 24 24 missense 0.007 benign 0.16 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs771265438 6q14.1 6 83188687G> A null L F 25 25 missense 0.04 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs771265438 6q14.1 6 83188687G> T null L I 25 25 missense 0.006 benign 0.3 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1228539439 6q14.1 6 83188683A> G null I T 26 26 missense 0.0 benign 0.62 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs748936671 6q14.1 6 83188681C> G null D H 27 27 missense 0.001 benign 0.16 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140499200 [ClinVar]: Immunodeficiency 23 6q14.1 6 83188678T> A null I F 28 28 2.0E-4 missense 0.055 benign 0.02 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000652183 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140499200 6q14.1 6 83188678T> C null I V 28 28 2.0E-4 missense 0.014 benign 0.12 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1159239461 6q14.1 6 83188675T> C null S G 29 29 missense 0.0 benign 0.07 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1207568204 6q14.1 6 83188665T> G null E A 32 32 missense 0.0 benign 0.54 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,gnomAD rs372721988 6q14.1 6 83188656T> A null N I 35 35 missense 0.026 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs190279776 [ClinVar]: Immunodeficiency 23 6q14.1 6 83188654G> T null L M 36 36 7.99E-4 missense 0.005 benign 0.55 tolerated 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000885327 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs1014295060 6q14.1 6 83188653A> G null L P 36 36 missense 0.006 benign 0.07 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs201506489 6q14.1 6 83188641G> C null A G 40 40 missense 0.025 benign 0.11 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs751616406 6q14.1 6 83188629A> G null I T 44 44 missense 0.012 benign 0.11 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes rs200919595 6q14.1 6 83188626C> T null G D 45 45 2.0E-4 missense 0.687 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1371559781 6q14.1 6 83188617G> T null T N 48 48 missense 0.419 benign 0.06 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1432537294 6q14.1 6 83188615T> C null R G 49 49 missense 0.731 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs745659258 6q14.1 6 83187063C> A null E D 53 53 missense 0.0 benign 0.39 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs745659258 6q14.1 6 83187063C> G null E D 53 53 missense 0.0 benign 0.39 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs988238790 6q14.1 6 83187061T> C null K R 54 54 missense 0.0 benign 0.48 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs1562428894 6q14.1 6 83187056A> T null S T 56 56 missense 0.007 benign 0.48 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1413762822 6q14.1 6 83187053G> A null Q * 57 57 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1208622777 6q14.1 6 83187038C> G null G R 62 62 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs80024877 6q14.1 6 83187037C> A null G V 62 62 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1270609084 [NCI-TCGA]: Variant assessed as Somatic; impact. 6q14.1 6 83187029C> A null V F 65 65 missense 0.1 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1270609084 6q14.1 6 83187029C> T null V I 65 65 missense 0.001 benign 0.07 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1270609084 6q14.1 6 83187029C> G null V L 65 65 missense 0.007 benign 0.02 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs752980933 6q14.1 6 83187019C> T null G D 68 68 missense 0.011 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs767551597 6q14.1 6 83187016T> G null Q P 69 69 missense 0.12 benign 0.11 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1362386764 6q14.1 6 83187010T> C null H R 71 71 missense 0.0 benign 0.57 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs751672926 6q14.1 6 83187009_83187010insAAC A null D V 72 72 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs757081282 6q14.1 6 83182976A> C null Y D 73 73 missense 0.235 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs62419258 6q14.1 6 83182968C> A null L F 75 75 missense 0.01 benign 0.03 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs758826002 6q14.1 6 83182965T> G null L F 76 76 missense 0.01 benign 0.02 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs758826002 6q14.1 6 83182965T> A null L F 76 76 missense 0.01 benign 0.02 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs762288434 6q14.1 6 83182964T> C null T A 77 77 missense 0.465 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs760200977 6q14.1 6 83182963G> A null T I 77 77 missense 0.799 possibly damaging 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs760200977 6q14.1 6 83182963G> T null T K 77 77 missense 0.452 possibly damaging 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs762288434 6q14.1 6 83182964T> G null T P 77 77 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs760200977 6q14.1 6 83182963G> C null T R 77 77 missense 0.843 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs762288434 6q14.1 6 83182964T> A null T S 77 77 missense 0.43 benign 0.11 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs867421437 6q14.1 6 83182960G> A null T I 78 78 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs867421437 6q14.1 6 83182960G> T null T K 78 78 missense 0.554 possibly damaging 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC rs774398943 6q14.1 6 83182961T> G null T P 78 78 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC rs774398943 6q14.1 6 83182961T> A null T S 78 78 missense 0.871 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs943648375 6q14.1 6 83182958G> C null P A 79 79 missense 0.901 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC rs749113874 6q14.1 6 83182957G> T null P H 79 79 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs943648375 6q14.1 6 83182958G> T null P T 79 79 missense 0.554 possibly damaging 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1450091702 6q14.1 6 83182955G> C null Q E 80 80 missense 0.076 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs779965097 6q14.1 6 83182953C> G null Q H 80 80 missense 0.797 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs768879385 6q14.1 6 83182954T> G null Q P 80 80 missense 0.015 benign 0.02 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs757625553 6q14.1 6 83182943T> A null M L 84 84 missense 0.0 benign 0.64 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs757625553 6q14.1 6 83182943T> C null M V 84 84 missense 0.0 benign 0.38 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,TOPMed rs371415379 6q14.1 6 83182933C> T null C Y 87 87 missense 0.891 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs142161221 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 6q14.1 6 83182931G> A null R * 88 88 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,gnomAD rs142161221 6q14.1 6 83182931G> C null R G 88 88 missense 0.001 benign 0.35 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,NCI-TCGA,TOPMed,gnomAD rs752438675 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 83182930C> T null R Q 88 88 missense 0.0 benign 0.44 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs766917592 6q14.1 6 83182928T> G null N H 89 89 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,gnomAD rs368371936 6q14.1 6 83182924G> A null T M 90 90 missense 0.314 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1031049355 6q14.1 6 83182921C> T null G D 91 91 missense 0.0 benign 0.56 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1268519797 6q14.1 6 83182922C> G null G R 91 91 missense 0.0 benign 0.39 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,gnomAD rs370459891 6q14.1 6 83182918C> T null G D 92 92 missense 0.01 benign 0.02 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,dbSNP,gnomAD rs762678772 [ClinVar]: Immunodeficiency 23 6q14.1 6 83182916G> A null R * 93 93 stop gained 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000652184 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs73749732 [ClinVar]: Immunodeficiency 23 6q14.1 6 83182915C> A null R L 93 93 0.002596 missense 0.0 benign 0.3 tolerated 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000546230 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs73749732 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 83182915C> T null R Q 93 93 0.002596 missense 0.0 benign 0.81 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs780343629 6q14.1 6 83182905C> G null K N 96 96 missense 0.001 benign 0.19 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs1041974128 6q14.1 6 83182904C> T null A T 97 97 missense 0.02 benign 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs745961996 6q14.1 6 83182897A> G null I T 99 99 missense 0.0 benign 0.19 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs772003376 6q14.1 6 83182898T> C null I V 99 99 missense 0.0 benign 0.96 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1368049397 6q14.1 6 83182887G> C null Y * 102 102 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs779501364 6q14.1 6 83182877G> C null L V 106 106 missense 0.063 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs757821755 6q14.1 6 83182873G> C null S C 107 107 missense 0.015 benign 0.08 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase dbSNP,gnomAD rs1251637218 [ClinVar]: Immunodeficiency 23 6q14.1 6 83182870T> C null K R 108 108 missense 0.0 benign 0.2 tolerated 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000768280 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1251637218 6q14.1 6 83182870T> G null K T 108 108 missense 0.0 benign 0.62 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs778255624 6q14.1 6 83182862C> T null V M 111 111 missense 0.005 benign 0.12 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1254419923 6q14.1 6 83182852G> A null T I 114 114 missense 0.0 benign 0.46 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1312277520 6q14.1 6 83182846T> A null Q L 116 116 missense 0.0 benign 0.36 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs749794396 6q14.1 6 83181930G> A null A V 117 117 missense 0.0 benign 0.2 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs756396588 6q14.1 6 83181922T> G null S R 120 120 missense 0.0 benign 0.43 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,gnomAD rs370293418 6q14.1 6 83181914A> C null D E 122 122 missense 0.003 benign 0.34 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,NCI-TCGA,gnomAD rs748552273 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 83181916C> T null D N 122 122 missense 0.001 benign 0.51 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs754646068 6q14.1 6 83181910A> G null Y H 124 124 missense 0.015 benign 0.53 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148817553 [ClinVar]: Immunodeficiency 23 6q14.1 6 83181905T> G null R S 125 125 3.99E-4 missense 0.005 benign 0.71 tolerated 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000816178 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs751252811 6q14.1 6 83181906C> G null R T 125 125 missense 0.011 benign 0.53 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1395736662 6q14.1 6 83181894A> G null V A 129 129 missense 0.07 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs1554258586 cosmic curated [Cosmic]: upper_aerodigestive_tract pubmed:21798893,cosmic_study:349 6q14.1 6 83181892C> G null D H 130 130 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs943321803 6q14.1 6 83181889A> C null C G 131 131 missense 0.003 benign 0.83 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs1250691086 6q14.1 6 83181873C> T null G E 136 136 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1194900744 6q14.1 6 83181859T> C null R G 141 141 missense 0.0 benign 0.06 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs765222547 6q14.1 6 83181854T> G null E D 142 142 missense 0.006 benign 0.1 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs761454006 6q14.1 6 83181851C> A null M I 143 143 missense 0.003 benign 0.17 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1465408809 6q14.1 6 83181852A> G null M T 143 143 missense 0.161 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1354892260 6q14.1 6 83181847G> A null H Y 145 145 missense 0.001 benign 0.04 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,NCI-TCGA,gnomAD rs763858041 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 83181843T> C null Y C 146 146 missense 0.011 benign 0.05 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1170465757 6q14.1 6 83181834T> G null Q P 149 149 missense 0.0 benign 0.2 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1424080458 6q14.1 6 83181831C> A null G V 150 150 missense 0.0 benign 0.34 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1186080544 6q14.1 6 83181828A> T null L Q 151 151 missense 0.866 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,gnomAD rs373468710 6q14.1 6 83181823C> T null V I 153 153 missense 0.0 benign 1.0 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs774767366 6q14.1 6 83181820G> C null Q E 154 154 missense 0.0 benign 1.0 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs771088882 6q14.1 6 83181819T> G null Q P 154 154 missense 0.034 benign 0.22 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs770348496 6q14.1 6 83181812A> C null F L 156 156 missense 0.0 benign 0.07 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1360385680 6q14.1 6 83181807T> C null D G 158 158 missense 0.01 benign 0.02 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl,dbSNP rs869312886 [UniProt]: decreased phosphoacetylglucosamine mutase activity, [ClinVar]: Immunodeficiency 23 pubmed:24931394 pubmed:24931394 6q14.1 6 83181808C> G null D H 158 158 missense 0.131 benign 0.0 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000210409 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl,dbSNP rs869312886 [UniProt]: decreased phosphoacetylglucosamine mutase activity, [ClinVar]: Immunodeficiency 23 pubmed:24931394 pubmed:24931394 6q14.1 6 83181808C> G null D H 158 158 missense 0.131 benign 0.0 deleterious 0 Immunodeficiency 23 (IMD23) A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. MIM:615816 pubmed:24589341,pubmed:24698316,pubmed:24931394 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1317451698 6q14.1 6 83181799T> C null K E 161 161 missense 0.001 benign 0.75 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1317451698 6q14.1 6 83181799T> G null K Q 161 161 missense 0.006 benign 0.39 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs1562423141 6q14.1 6 83181798T> C null K R 161 161 missense 0.003 benign 0.33 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs1283075972 6q14.1 6 83181793T> C null K E 163 163 missense 0.001 benign 0.06 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase dbSNP,gnomAD rs587777562 [ClinVar]: Immunodeficiency 23, [UniProt]: loss of phosphoacetylglucosamine mutase activity pubmed:24931394 pubmed:24931394 6q14.1 6 83181786T> C null N S 165 165 missense 0.955 probably damaging 0.0 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000128844 A0A087WT27 PGM3 Acetylglucosamine phosphomutase dbSNP,gnomAD rs587777562 [ClinVar]: Immunodeficiency 23, [UniProt]: loss of phosphoacetylglucosamine mutase activity pubmed:24931394 pubmed:24931394 6q14.1 6 83181786T> C null N S 165 165 missense 0.955 probably damaging 0.0 deleterious 0 Immunodeficiency 23 (IMD23) A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. MIM:615816 pubmed:24589341,pubmed:24698316,pubmed:24931394 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP rs146510423 6q14.1 6 83181763C> T null V M 173 173 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs781616438 6q14.1 6 83181756C> G null S T 175 175 missense 0.0 benign 0.36 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,TOPMed rs369781935 6q14.1 6 83181753T> C null H R 176 176 missense 0.0 benign 0.05 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1401582338 6q14.1 6 83181751G> A null Q * 177 177 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1278637892 6q14.1 6 83181748T> G null K Q 178 178 missense 0.007 benign 0.13 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1293351659 6q14.1 6 83181739G> A null Q * 181 181 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,gnomAD rs377090800 6q14.1 6 83181738T> C null Q R 181 181 missense 0.0 benign 0.49 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1199492798 6q14.1 6 83179967C> G null G A 182 182 missense 0.097 benign 0.02 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs539434428 6q14.1 6 83179959T> C null I V 185 185 missense 0.0 benign 0.62 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1249420404 6q14.1 6 83179956T> G null K Q 186 186 missense 0.0 benign 0.28 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1055464349 6q14.1 6 83179949T> C null N S 188 188 missense 0.003 benign 0.4 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs779621468 6q14.1 6 83179937C> G null C S 192 192 missense 0.158 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs779621468 6q14.1 6 83179937C> T null C Y 192 192 missense 0.899 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1482874783 6q14.1 6 83179919G> T null A E 198 198 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1294245170 6q14.1 6 83179916T> G null D A 199 199 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,dbSNP rs1339891026 [ClinVar]: Immunodeficiency 23 6q14.1 6 83179908C> T null V I 202 202 missense 0.006 benign 0.12 tolerated 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000812911 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1274016429 6q14.1 6 83179904T> C null Y C 203 203 missense 0.11 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs745583274 6q14.1 6 83179902A> G null Y H 204 204 missense 0.08 benign 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs771113662 6q14.1 6 83179894A> C null H Q 206 206 missense 0.0 benign 0.31 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1203391978 6q14.1 6 83179895T> C null H R 206 206 missense 0.0 benign 0.35 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1347767226 6q14.1 6 83179868A> G null I T 215 215 missense 0.022 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl,dbSNP rs587777415 [UniProt]: decreased phosphoacetylglucosamine mutase activity; decreased protein abundance, [ClinVar]: Immunodeficiency 23 pubmed:24589341 pubmed:24589341 6q14.1 6 83179864A> C null D E 216 216 missense 0.999 probably damaging 0.0 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000119830 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl,dbSNP rs587777415 [UniProt]: decreased phosphoacetylglucosamine mutase activity; decreased protein abundance, [ClinVar]: Immunodeficiency 23 pubmed:24589341 pubmed:24589341 6q14.1 6 83179864A> C null D E 216 216 missense 0.999 probably damaging 0.0 deleterious 0 Immunodeficiency 23 (IMD23) A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. MIM:615816 pubmed:24589341,pubmed:24698316,pubmed:24931394 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1316261784 6q14.1 6 83179856T> G null K T 219 219 missense 0.395 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs571111060 6q14.1 6 83179853A> G null I T 220 220 missense 0.691 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1185948465 6q14.1 6 83179850G> A null A V 221 221 missense 0.262 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,NCI-TCGA,TOPMed,gnomAD rs755909886 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 83179847G> A null T M 222 222 missense 0.672 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs767480522 6q14.1 6 83179836T> C null S G 226 226 missense 0.0 benign 1.0 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs763263870 6q14.1 6 83179827T> C null K E 229 229 missense 0.119 benign 0.06 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1400948904 6q14.1 6 83179821G> C null L V 231 231 missense 0.01 benign 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1173074246 6q14.1 6 83179814A> C null V G 233 233 missense 0.0 benign 0.36 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1244898415 6q14.1 6 83179815C> T null V M 233 233 missense 0.005 benign 0.11 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1409448319 6q14.1 6 83179812C> G null E Q 234 234 missense 0.009 benign 0.64 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs1043488492 6q14.1 6 83178756T> C null I V 235 235 missense 0.0 benign 0.56 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs947825939 6q14.1 6 83178747T> C null S G 238 238 missense 0.0 benign 0.15 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ExAC,gnomAD rs568482369 6q14.1 6 83178738T> A null I F 241 241 2.0E-4 missense 0.006 benign 0.09 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,dbSNP,gnomAD rs745508510 [ClinVar]: Immunodeficiency 23 6q14.1 6 83178737A> G null I T 241 241 missense 0.019 benign 0.0 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000554532 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1471962597 6q14.1 6 83178734C> G null G A 242 242 missense 0.241 benign 0.29 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1367937900 6q14.1 6 83178732C> T null V I 243 243 missense 0.01 benign 0.16 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1184249779 6q14.1 6 83178728A> G null V A 244 244 missense 0.736 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1020262082 cosmic curated [Cosmic]: ovary cosmic_study:585 6q14.1 6 83178729C> T null V I 244 244 missense 0.023 benign 0.12 tolerated 1 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs768306752 6q14.1 6 83178726G> A null Q * 245 245 missense 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs1562420198 6q14.1 6 83178719G> T null A E 247 247 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1208720613 6q14.1 6 83178716T> C null Y C 248 248 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1286840518 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 83178713G> A null A V 249 249 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs770438539 6q14.1 6 83178698G> C null T R 254 254 missense 0.957 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,NCI-TCGA,TOPMed,gnomAD rs777712157 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 83178695C> T null R Q 255 255 missense 0.0 benign 0.39 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs748755438 6q14.1 6 83178696G> A null R W 255 255 missense 0.149 benign 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,gnomAD rs375748133 6q14.1 6 83178689A> G null L P 257 257 missense 0.866 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ExAC,TOPMed,gnomAD rs200381959 6q14.1 6 83178682T> G null E D 259 259 3.99E-4 missense 0.0 benign 0.42 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs770505447 6q14.1 6 83176057G> C null P A 264 264 missense 0.067 benign 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,gnomAD rs139056409 6q14.1 6 83176050T> C null Y C 266 266 missense 0.0 benign 0.18 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs958896393 6q14.1 6 83176051A> G null Y H 266 266 missense 0.0 benign 0.59 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs769469358 6q14.1 6 83176044G> A null T I 268 268 missense 0.323 benign 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1480306284 6q14.1 6 83176033C> T null V I 272 272 missense 0.762 possibly damaging 0.05 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ExAC,gnomAD rs543466888 6q14.1 6 83176026T> A null H L 274 274 2.0E-4 missense 0.519 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs918442649 6q14.1 6 83176016G> C null H Q 277 277 missense 0.149 benign 0.02 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1201093914 6q14.1 6 83176011G> A null A V 279 279 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1437751878 6q14.1 6 83176006C> T null E K 281 281 missense 0.0 benign 0.2 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,dbSNP,gnomAD rs34238319 [ClinVar]: Immunodeficiency 23 6q14.1 6 83176005T> A null E V 281 281 missense 0.021 benign 0.01 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000705594 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs539041152 6q14.1 6 83175996A> G null I T 284 284 missense 0.662 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs754735650 6q14.1 6 83175991C> T null V I 286 286 missense 0.007 benign 0.26 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs746791410 6q14.1 6 83175985A> T null F I 288 288 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1308749982 6q14.1 6 83175983A> C null F L 288 288 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs1025023575 6q14.1 6 83175979C> T null A T 290 290 missense 0.918 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs779956145 6q14.1 6 83175976T> A null N Y 291 291 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ExAC,gnomAD rs201432809 6q14.1 6 83175966C> T null G D 294 294 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl,dbSNP rs1562417226 6q14.1 6 83175964T> G null T P 295 295 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs773438496 6q14.1 6 83174487C> T null A T 296 296 missense 0.003 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,dbSNP,gnomAD rs774568856 [ClinVar]: Immunodeficiency 23 6q14.1 6 83174481A> G null F L 298 298 missense 0.172 benign 0.0 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000812253 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1202936344 6q14.1 6 83174469C> T null V I 302 302 missense 0.0 benign 0.09 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1461676323 6q14.1 6 83174465T> G null E A 303 303 missense 0.04 benign 0.21 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1376435172 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 83174461C> A null M I 304 304 missense 0.0 benign 0.14 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1198729263 6q14.1 6 83174463T> A null M L 304 304 missense 0.0 benign 0.3 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1471328397 6q14.1 6 83174460_83174461insATCT T null K R 307 307 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1264963814 6q14.1 6 83174451G> A null Q * 308 308 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs892955427 6q14.1 6 83174447G> A null S L 309 309 missense 0.0 benign 0.8 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs149679266 [ClinVar]: Immunodeficiency 23 6q14.1 6 83174442C> G null E Q 311 311 3.99E-4 missense 0.0 benign 0.4 tolerated 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000652188 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1306544701 6q14.1 6 83174439G> A null Q * 312 312 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1306544701 6q14.1 6 83174439G> T null Q K 312 312 missense 0.0 benign 0.64 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs762484092 6q14.1 6 83174429T> C null D G 315 315 missense 0.0 benign 0.15 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1366838529 6q14.1 6 83174427T> C null K E 316 316 missense 0.0 benign 1.0 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1375583745 6q14.1 6 83174426T> C null K R 316 316 missense 0.0 benign 0.22 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC rs773048160 6q14.1 6 83174414G> A null A V 320 320 missense 0.007 benign 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139511953 6q14.1 6 83174412C> A null A S 321 321 3.99E-4 missense 0.03 benign 0.12 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139511953 6q14.1 6 83174412C> T null A T 321 321 3.99E-4 missense 0.048 benign 0.05 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs747664791 6q14.1 6 83174411G> A null A V 321 321 missense 0.007 benign 0.09 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1455919283 6q14.1 6 83174409T> C null K E 322 322 missense 0.0 benign 0.48 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1324175949 6q14.1 6 83174405A> G null M T 323 323 missense 0.0 benign 0.55 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1388419797 6q14.1 6 83174400C> T null E K 325 325 missense 0.0 benign 0.85 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs768463282 6q14.1 6 83174390A> G null I T 328 328 missense 0.003 benign 0.11 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes rs199862751 6q14.1 6 83174386G> T null D E 329 329 missense 0.006 benign 0.17 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs747031843 6q14.1 6 83174387T> C null D G 329 329 missense 0.021 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1411214408 6q14.1 6 83174377G> C null N K 332 332 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1447715554 6q14.1 6 83170468C> T null R K 337 337 missense 0.144 benign 0.04 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs759441649 6q14.1 6 83170464T> G null R S 338 338 missense 0.0 benign 0.38 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs774322781 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 6q14.1 6 83170462A> G null V A 339 339 missense 0.001 benign 0.18 tolerated 1 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1469862471 6q14.1 6 83170463C> T null V I 339 339 missense 0.003 benign 0.22 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1469862471 6q14.1 6 83170463C> G null V L 339 339 missense 0.0 benign 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs919274133 6q14.1 6 83170460T> C null I V 340 340 missense 0.014 benign 0.09 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1184028706 6q14.1 6 83170457T> G null S R 341 341 missense 0.0 benign 0.41 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs776651237 6q14.1 6 83170447T> C null D G 344 344 missense 0.003 benign 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs473267 [UniProt]: allele PGM3*2 pubmed:11004509,pubmed:12174217,pubmed:15489334 6q14.1 6 83170448C> T null D N 344 344 0.355 missense 0.003 benign 0.22 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1364086538 6q14.1 6 83170435T> G null Q P 348 348 missense 0.055 benign 0.09 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs747259498 6q14.1 6 83170430C> T null V I 350 350 missense 0.001 benign 0.18 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1350897187 6q14.1 6 83170426G> A null T I 351 351 missense 0.11 benign 0.02 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs781153408 6q14.1 6 83170424G> C null P A 352 352 missense 0.871 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1432222791 6q14.1 6 83170423G> A null P L 352 352 missense 0.843 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1243066217 6q14.1 6 83170409C> G null E Q 357 357 missense 0.003 benign 0.09 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs775608964 6q14.1 6 83170405G> A null A V 358 358 missense 0.003 benign 0.17 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,gnomAD rs376366856 6q14.1 6 83170403T> C null I V 359 359 missense 0.056 benign 0.04 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,gnomAD rs372905610 6q14.1 6 83170399T> C null N S 360 360 missense 0.001 benign 0.05 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1343192683 6q14.1 6 83170394G> C null L V 362 362 missense 0.018 benign 0.18 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs199998117 6q14.1 6 83170385T> A null K * 365 365 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs199998117 6q14.1 6 83170385T> C null K E 365 365 missense 0.017 benign 0.09 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC rs749680753 6q14.1 6 83170379T> G null K Q 367 367 missense 0.0 benign 0.27 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,gnomAD rs369328277 6q14.1 6 83170378T> C null K R 367 367 missense 0.0 benign 0.46 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs752336134 6q14.1 6 83170372G> C null S C 369 369 missense 0.005 benign 0.03 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,dbSNP,gnomAD rs144104577 [ClinVar]: Immunodeficiency 23 6q14.1 6 83170370G> A null R * 370 370 stop gained 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000613688 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs754506754 6q14.1 6 83170369C> G null R P 370 370 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs754506754 6q14.1 6 83170369C> T null R Q 370 370 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1285899855 6q14.1 6 83170355G> A null P S 375 375 missense 0.098 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs762854252 6q14.1 6 83170346T> A null T S 378 378 missense 0.33 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs773053168 6q14.1 6 83170342T> C null E G 379 379 missense 0.844 possibly damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl,dbSNP rs587777413 [ClinVar]: Immunodeficiency 23, [UniProt]: decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance pubmed:24589341 pubmed:14981714,pubmed:24589341 6q14.1 6 83170343C> G null E Q 379 379 missense 0.913 probably damaging 0.0 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000119828 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl,dbSNP rs587777413 [ClinVar]: Immunodeficiency 23, [UniProt]: decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance pubmed:24589341 pubmed:14981714,pubmed:24589341 6q14.1 6 83170343C> G null E Q 379 379 missense 0.913 probably damaging 0.0 deleterious 0 Immunodeficiency 23 (IMD23) A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. MIM:615816 pubmed:24589341,pubmed:24698316,pubmed:24931394 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs267608261 6q14.1 6 83170340C> T null D N 380 380 missense 0.034 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase dbSNP,gnomAD rs267608261 [ClinVar]: Immunodeficiency 23, [UniProt]: decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance, [ClinVar]: Hyper-IgE syndrome pubmed:24698316 pubmed:24698316 6q14.1 6 83170340C> A null D Y 380 380 missense 0.899 possibly damaging 0.0 deleterious 0 Hyper-IgE syndrome ClinVar:RCV000144536 A0A087WT27 PGM3 Acetylglucosamine phosphomutase dbSNP,gnomAD rs267608261 [ClinVar]: Immunodeficiency 23, [UniProt]: decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance, [ClinVar]: Hyper-IgE syndrome pubmed:24698316 pubmed:24698316 6q14.1 6 83170340C> A null D Y 380 380 missense 0.899 possibly damaging 0.0 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000119833 A0A087WT27 PGM3 Acetylglucosamine phosphomutase dbSNP,gnomAD rs267608261 [ClinVar]: Immunodeficiency 23, [UniProt]: decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance, [ClinVar]: Hyper-IgE syndrome pubmed:24698316 pubmed:24698316 6q14.1 6 83170340C> A null D Y 380 380 missense 0.899 possibly damaging 0.0 deleterious 0 Immunodeficiency 23 (IMD23) A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. MIM:615816 pubmed:24589341,pubmed:24698316,pubmed:24931394 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs529906310 6q14.1 6 83170334C> A null V F 382 382 2.0E-4 missense 0.363 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs529906310 [ClinVar]: Immunodeficiency 23 6q14.1 6 83170334C> T null V I 382 382 2.0E-4 missense 0.058 benign 0.03 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000801255 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs772233718 6q14.1 6 83170330C> A null R L 383 383 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs772233718 6q14.1 6 83170330C> T null R Q 383 383 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1365852759 6q14.1 6 83170325A> G null Y H 385 385 missense 0.902 possibly damaging 0.02 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1365852759 6q14.1 6 83170325A> T null Y N 385 385 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs759691363 6q14.1 6 83170309G> T null S * 390 390 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs369756887 6q14.1 6 83170307G> T null Q K 391 391 missense 0.007 benign 0.18 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs774938988 6q14.1 6 83170306T> A null Q L 391 391 missense 0.031 benign 0.07 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs766676361 6q14.1 6 83169319C> T null S N 393 393 missense 0.0 benign 1.0 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs766676361 6q14.1 6 83169319C> G null S T 393 393 missense 0.001 benign 0.14 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed rs1336612507 6q14.1 6 83169317C> G null A P 394 394 missense 0.057 benign 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,gnomAD rs375523747 6q14.1 6 83169309G> T null H Q 396 396 missense 0.0 benign 0.46 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs868225319 6q14.1 6 83169311G> A null H Y 396 396 missense 0.0 benign 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs770156095 6q14.1 6 83169302G> A null H Y 399 399 missense 0.0 benign 1.0 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ESP,ExAC,TOPMed,gnomAD rs372146303 6q14.1 6 83169299C> A null E * 400 400 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1211796192 6q14.1 6 83169284C> G null V L 405 405 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC rs768292010 6q14.1 6 83169278G> A null Q * 407 407 stop gained 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase NCI-TCGA,TOPMed,dbSNP rs541410808 [ClinVar]: Immunodeficiency 23, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 83169271G> A null A V 409 409 missense 0.856 possibly damaging 0.0 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV000689106 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1277629363 6q14.1 6 83169265C> T null G E 411 411 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1258220855 6q14.1 6 83169266C> G null G R 411 411 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs746702734 6q14.1 6 83169262A> G null I T 412 412 missense 0.009 benign 0.11 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase TOPMed,gnomAD rs1485428567 6q14.1 6 83169259C> G null G A 413 413 missense 0.739 possibly damaging 0.02 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,gnomAD rs779517155 6q14.1 6 83169257C> G null E Q 414 414 missense 0.195 benign 0.21 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1217707083 6q14.1 6 83169254T> C null R G 415 415 missense 0.014 benign 0.18 tolerated 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1447955006 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q14.1 6 83170357C> T null R Q 415 415 missense 0.918 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,NCI-TCGA,TOPMed,gnomAD rs745488561 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22610119,cosmic_study:392 6q14.1 6 83170358G> A null R W 415 415 missense 0.983 probably damaging 0.0 deleterious 1 A0A087WT27 PGM3 Acetylglucosamine phosphomutase ExAC,TOPMed,gnomAD rs750330692 6q14.1 6 83169250G> A null P L 416 416 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs143654268 [ClinVar]: Immunodeficiency 23 6q14.1 6 83169251G> T null P T 416 416 2.0E-4 missense 0.995 probably damaging 0.02 deleterious 0 Immunodeficiency 23 (IMD23) MIM:615816 ClinVar:RCV001067238 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1272314172 6q14.1 6 83169245G> T null P T 418 418 missense 0.764 possibly damaging 0.01 deleterious 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1360742318 6q14.1 6 83169241C> T null G D 419 419 missense 0.169 benign 0.26 tolerated - low confidence 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase Ensembl rs943678178 6q14.1 6 83169242C> T null G S 419 419 missense 0.007 benign 0.65 tolerated - low confidence 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1315458324 6q14.1 6 83169237G> T null F L 420 420 missense 0.017 benign 0.07 tolerated - low confidence 0 A0A087WT27 PGM3 Acetylglucosamine phosphomutase gnomAD rs1380876075 6q14.1 6 83169236A> C null * G 421 421 stop lost 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs772795922 3q13.2 3 112829375C> A null S I 4 4 missense 0.243 benign 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs771718304 3q13.2 3 112829370A> C null C G 6 6 missense 0.979 probably damaging 0.11 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs771718304 3q13.2 3 112829370A> G null C R 6 6 missense 0.986 probably damaging 0.22 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs985276875 3q13.2 3 112829365C> T null M I 7 7 missense 0.838 possibly damaging 0.22 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ExAC,gnomAD rs189547023 3q13.2 3 112829366A> G null M T 7 7 2.0E-4 missense 0.838 possibly damaging 0.19 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs762343460 3q13.2 3 112829367T> C null M V 7 7 missense 0.761 possibly damaging 0.41 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 Ensembl rs1559923166 3q13.2 3 112829364C> G null G R 8 8 missense 0.0 benign 0.06 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs976929156 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 3q13.2 3 112829360C> T null G E 9 9 missense 0.017 benign 0.65 tolerated 1 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1215282264 3q13.2 3 112829355G> C null Q E 11 11 missense 0.344 benign 0.19 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1450392737 3q13.2 3 112829353C> A null Q H 11 11 missense 0.804 possibly damaging 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1215282264 3q13.2 3 112829355G> T null Q K 11 11 missense 0.344 benign 0.02 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 Ensembl rs1559923151 3q13.2 3 112829349T> C null T A 13 13 missense 0.444 benign 0.41 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs749662247 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q13.2 3 112829344C> A null Q H 14 14 missense 0.556 possibly damaging 0.23 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs769956597 3q13.2 3 112829338A> C null Y * 16 16 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs775956543 3q13.2 3 112829339T> C null Y C 16 16 missense 0.527 possibly damaging 0.17 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs369343915 3q13.2 3 112829333G> A null T I 18 18 missense 0.001 benign 0.06 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs369343915 3q13.2 3 112829333G> T null T K 18 18 missense 0.0 benign 0.41 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs757399442 3q13.2 3 112829331T> A null I F 19 19 missense 0.0 benign 0.71 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1352447727 3q13.2 3 112829330A> G null I T 19 19 missense 0.014 benign 0.39 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs368154353 3q13.2 3 112829324G> C null A G 21 21 missense 0.071 benign 0.12 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs1286005242 3q13.2 3 112827684C> A null G V 23 23 missense 0.01 benign 0.75 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs747102032 3q13.2 3 112827679T> C null I V 25 25 missense 0.024 benign 0.48 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs754818674 3q13.2 3 112827672T> C null Q R 27 27 missense 0.0 benign 0.3 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs770137502 3q13.2 3 112827670G> A null P S 28 28 missense 0.027 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ExAC,TOPMed,gnomAD rs201502630 3q13.2 3 112827667C> G null V L 29 29 2.0E-4 missense 0.07 benign 0.01 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1300713128 3q13.2 3 112827664G> T null L M 30 30 missense 0.556 possibly damaging 0.08 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs779925062 3q13.2 3 112827656A> T null D E 32 32 missense 0.104 benign 0.1 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 Ensembl rs1431039706 3q13.2 3 112827657T> C null D G 32 32 missense 0.0 benign 0.71 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1406315787 3q13.2 3 112827658C> A null D Y 32 32 missense 0.556 possibly damaging 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1451273686 3q13.2 3 112827654A> C null I R 33 33 missense 0.0 benign 0.02 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1157984726 3q13.2 3 112827655T> C null I V 33 33 missense 0.0 benign 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ExAC,TOPMed,gnomAD rs562574993 3q13.2 3 112827651T> C null N S 34 34 2.0E-4 missense 0.275 benign 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1432794371 3q13.2 3 112827645A> G null V A 36 36 missense 0.039 benign 0.01 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ExAC,gnomAD rs542766783 3q13.2 3 112827646C> T null V M 36 36 2.0E-4 missense 0.006 benign 0.07 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs767327297 3q13.2 3 112827635G> T null C * 39 39 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1428495896 3q13.2 3 112827633G> C null P R 40 40 missense 0.025 benign 0.07 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs756758976 3q13.2 3 112827630G> A null P L 41 41 missense 0.637 possibly damaging 0.08 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs750985547 3q13.2 3 112827627A> G null I T 42 42 missense 0.628 possibly damaging 0.06 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374244518 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q13.2 3 112827625C> T null A T 43 43 missense 0.003 benign 0.59 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1322398643 3q13.2 3 112827619T> C null R G 45 45 missense 0.0 benign 0.07 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1281043631 3q13.2 3 112827618C> G null R T 45 45 missense 0.003 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 Ensembl,NCI-TCGA rs374155885 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 3q13.2 3 112827616T> G null N H 46 46 missense 0.31 benign 0.08 tolerated 1 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1345598151 3q13.2 3 112827608G> C null I M 48 48 missense 0.942 probably damaging 0.17 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1325341649 3q13.2 3 112827604T> C null I V 50 50 missense 0.1 benign 0.5 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs971736354 3q13.2 3 112827598A> C null W G 52 52 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs971736354 3q13.2 3 112827598A> G null W R 52 52 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs776806115 3q13.2 3 112827592T> A null I L 54 54 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs771097756 3q13.2 3 112827585A> G null L P 56 56 missense 0.005 benign 0.11 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs773105699 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q13.2 3 112827573G> T null P H 60 60 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1024114179 3q13.2 3 112827559C> A null A S 65 65 missense 0.088 benign 0.22 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1191184047 3q13.2 3 112827555T> C null Y C 66 66 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs796140817 3q13.2 3 112827552T> C null K R 67 67 missense 0.001 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1227682830 3q13.2 3 112827550T> G null K Q 68 68 missense 0.366 benign 0.05 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1200230804 3q13.2 3 112827549T> G null K T 68 68 missense 0.344 benign 0.13 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1309257640 3q13.2 3 112827547C> G null E Q 69 69 missense 0.541 possibly damaging 0.06 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1460268762 3q13.2 3 112827540T> C null N S 71 71 missense 0.69 possibly damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,NCI-TCGA,gnomAD rs780196788 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q13.2 3 112827538C> T null E K 72 72 missense 0.057 benign 0.1 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs769690501 3q13.2 3 112827529C> T null E K 75 75 missense 0.1 benign 0.31 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs200765408 3q13.2 3 112827522T> C null N S 77 77 missense 0.69 possibly damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs781158078 3q13.2 3 112827520A> C null C G 78 78 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs1224657845 3q13.2 3 112827519C> G null C S 78 78 missense 0.866 possibly damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs1224657845 3q13.2 3 112827519C> T null C Y 78 78 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ExAC,TOPMed,gnomAD rs202235033 3q13.2 3 112827513A> T null V D 80 80 5.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1188707861 3q13.2 3 112827510T> G null E A 81 81 missense 0.058 benign 0.1 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,TOPMed rs369477542 3q13.2 3 112827508T> C null R G 82 82 missense 0.991 probably damaging 0.07 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 Ensembl rs953849329 cosmic curated [Cosmic]: endometrium cosmic_study:419 3q13.2 3 112827507C> T null R K 82 82 missense 0.97 probably damaging 0.02 deleterious 1 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs757988215 3q13.2 3 112827504A> C null I R 83 83 missense 0.96 probably damaging 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs757988215 3q13.2 3 112827504A> G null I T 83 83 missense 0.941 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs1328787103 3q13.2 3 112827497C> T null W * 85 85 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs376140982 3q13.2 3 112827490T> C null R G 88 88 missense 0.003 benign 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs201810725 3q13.2 3 112827480T> C null Q R 91 91 missense 0.027 benign 0.37 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs369844409 3q13.2 3 112827474G> T null S * 93 93 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369844409 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 3q13.2 3 112827474G> A null S L 93 93 missense 0.06 benign 0.33 tolerated 1 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs1187466192 3q13.2 3 112827470G> T null D E 94 94 missense 0.006 benign 0.92 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs1187466192 3q13.2 3 112827470G> C null D E 94 94 missense 0.006 benign 0.92 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs766740019 3q13.2 3 112827472C> G null D H 94 94 missense 0.453 possibly damaging 0.15 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1217431841 3q13.2 3 112827469G> C null L V 95 95 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1300460007 3q13.2 3 112827464C> A null Q H 96 96 missense 0.063 benign 0.05 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs760739960 3q13.2 3 112827465T> A null Q L 96 96 missense 0.747 possibly damaging 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1245378162 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q13.2 3 112827460G> A null R C 98 98 missense 0.332 benign 0.01 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs4682119 3q13.2 3 112827459C> T null R H 98 98 0.2883 missense 0.0 benign 0.25 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4682119 pubmed:15274657 3q13.2 3 112827459C> A null R L 98 98 0.2883 missense 0.03 benign 0.01 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1245378162 3q13.2 3 112827460G> T null R S 98 98 missense 0.042 benign 0.1 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199566328 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 3q13.2 3 112827456G> A null P L 99 99 3.99E-4 missense 0.715 possibly damaging 0.0 deleterious 1 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs745813951 3q13.2 3 112827453A> C null V G 100 100 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes rs200312412 3q13.2 3 112827450T> G null D A 101 101 missense 0.0 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs770828587 3q13.2 3 112827448T> C null T A 102 102 missense 0.0 benign 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ExAC,TOPMed,gnomAD rs201043427 3q13.2 3 112827447G> A null T I 102 102 missense 0.0 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs777534394 3q13.2 3 112827444G> A null T I 103 103 missense 0.963 probably damaging 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1453190107 3q13.2 3 112827441T> G null H P 104 104 missense 0.941 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1327120889 3q13.2 3 112827439_112827442du p null D A 105 105 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs755415862 3q13.2 3 112827435C> T null G E 106 106 missense 0.946 probably damaging 0.02 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376484982 3q13.2 3 112827436C> T null G R 106 106 2.0E-4 missense 0.976 probably damaging 0.02 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1185597223 3q13.2 3 112827424C> A null G C 110 110 missense 0.0 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs754345334 3q13.2 3 112827421T> C null I V 111 111 missense 0.003 benign 0.05 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs1231895219 3q13.2 3 112827417A> G null V A 112 112 missense 0.001 benign 0.16 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs761157266 3q13.2 3 112827418C> G null V L 112 112 missense 0.0 benign 0.21 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs761157266 3q13.2 3 112827418C> T null V M 112 112 missense 0.0 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs867512907 3q13.2 3 112827409G> A null P S 115 115 missense 0.026 benign 0.79 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1438998300 3q13.2 3 112827406C> A null D Y 116 116 missense 0.001 benign 0.17 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs767820507 3q13.2 3 112827400T> C null N D 118 118 missense 0.985 probably damaging 0.02 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1292881175 3q13.2 3 112827398A> T null N K 118 118 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs762157344 3q13.2 3 112827396A> C null F C 119 119 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs774516017 3q13.2 3 112827394G> A null H Y 120 120 missense 0.522 possibly damaging 0.86 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs759544199 3q13.2 3 112827391G> A null R C 121 121 missense 0.001 benign 0.07 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1349695034 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 3q13.2 3 112827390C> T null R H 121 121 missense 0.0 benign 1.0 tolerated 1 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs776768241 3q13.2 3 112827388C> T null G R 122 122 missense 0.999 probably damaging 0.14 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1328165366 3q13.2 3 112827387C> A null G V 122 122 missense 0.999 probably damaging 0.09 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1449387774 3q13.2 3 112827383A> C null Y * 123 123 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1228660402 3q13.2 3 112827385A> C null Y D 123 123 missense 0.941 probably damaging 0.01 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs770613440 3q13.2 3 112827381T> C null H R 124 124 missense 0.015 benign 0.06 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1302588734 3q13.2 3 112827376G> A null Q * 126 126 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs1288075252 3q13.2 3 112827375T> G null Q P 126 126 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs746863805 3q13.2 3 112827372A> G null V A 127 127 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1403251351 3q13.2 3 112827373C> G null V L 127 127 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs201801724 3q13.2 3 112827367C> T null V I 129 129 missense 0.891 possibly damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1283970035 3q13.2 3 112827235G> T null P H 131 131 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs756594504 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 3q13.2 3 112827233C> T null E K 132 132 missense 0.153 benign 0.1 tolerated 1 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs746366169 3q13.2 3 112827229A> G null V A 133 133 missense 0.813 possibly damaging 0.17 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1431852469 3q13.2 3 112827224G> C null L V 135 135 missense 0.028 benign 0.06 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1382543171 3q13.2 3 112827229_112827230insTAGGTTC A null F * 136 136 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 Ensembl rs867375041 3q13.2 3 112827218G> A null Q * 137 137 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1335611736 3q13.2 3 112827217T> C null Q R 137 137 missense 0.003 benign 0.86 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs781616615 3q13.2 3 112827214C> T null S N 138 138 missense 0.007 benign 0.24 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1176144382 3q13.2 3 112827205A> G null I T 141 141 missense 0.0 benign 0.15 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1407890712 3q13.2 3 112827206T> C null I V 141 141 missense 0.0 benign 0.08 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ExAC,gnomAD rs547208713 3q13.2 3 112827202G> A null T I 142 142 3.99E-4 missense 0.011 benign 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1417229171 3q13.2 3 112827197C> T null V I 144 144 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs764454316 3q13.2 3 112827188C> T null A T 147 147 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 Ensembl rs987132191 3q13.2 3 112827182T> C null T A 149 149 missense 0.0 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ExAC,TOPMed,gnomAD rs140173974 3q13.2 3 112827173G> A null P S 152 152 7.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1462822355 3q13.2 3 112827170C> T null A T 153 153 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs371039716 3q13.2 3 112827169G> A null A V 153 153 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs767283846 3q13.2 3 112827166G> C null A G 154 154 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs761642930 3q13.2 3 112827162C> A null Q H 155 155 missense 0.077 benign 0.04 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1305846333 3q13.2 3 112827163T> G null Q P 155 155 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1229820635 3q13.2 3 112827160A> T null I N 156 156 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs762535035 3q13.2 3 112827153C> T null W * 158 158 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs762535035 3q13.2 3 112827153C> A null W C 158 158 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs773959702 3q13.2 3 112827154C> G null W S 158 158 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs769254542 3q13.2 3 112827151A> T null I N 159 159 missense 0.879 possibly damaging 0.09 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs775007452 3q13.2 3 112827152T> C null I V 159 159 missense 0.078 benign 0.01 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs746373428 3q13.2 3 112827148G> A null P L 160 160 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1303078927 3q13.2 3 112827149G> A null P S 160 160 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs781599292 3q13.2 3 112827146C> T null E K 161 161 missense 0.258 benign 0.11 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs778306942 3q13.2 3 112827137T> C null I V 164 164 missense 0.026 benign 0.05 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1009276419 3q13.2 3 112827134G> A null L F 165 165 missense 0.213 benign 0.18 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs758638949 3q13.2 3 112827133A> G null L P 165 165 missense 0.163 benign 0.05 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs779042191 3q13.2 3 112827130G> C null A G 166 166 missense 0.122 benign 0.4 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs755068730 3q13.2 3 112827128T> A null T S 167 167 missense 0.268 benign 0.01 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1479671920 3q13.2 3 112827123C> G null K N 168 168 missense 0.258 benign 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs767480362 3q13.2 3 112827116A> G null Y H 171 171 missense 0.003 benign 0.53 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1359338711 3q13.2 3 112827109C> T null G D 173 173 missense 0.019 benign 0.32 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs761769569 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 3q13.2 3 112827110C> T null G S 173 173 missense 0.011 benign 0.4 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs996286160 3q13.2 3 112827101T> C null T A 176 176 missense 0.746 possibly damaging 0.09 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed rs751305937 3q13.2 3 112827098C> T null V M 177 177 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs763889468 3q13.2 3 112827094G> A null T M 178 178 missense 0.993 probably damaging 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1322701775 3q13.2 3 112827092C> T null V I 179 179 missense 0.994 probably damaging 0.08 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs905433594 3q13.2 3 112827087C> G null K N 180 180 missense 0.122 benign 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1312937974 3q13.2 3 112827078G> T null C * 183 183 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1222873283 3q13.2 3 112827076G> T null P H 184 184 missense 0.0 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs759011122 3q13.2 3 112827067C> A null G V 187 187 missense 0.012 benign 0.06 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs776315640 3q13.2 3 112827065G> T null H N 188 188 missense 0.498 possibly damaging 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 Ensembl rs200703227 3q13.2 3 112827064T> G null H P 188 188 missense 0.756 possibly damaging 0.02 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs748483721 3q13.2 3 112827058_112827059insT T null S * 190 190 stop gained 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs778220851 3q13.2 3 112827055G> A null T I 191 191 missense 0.939 probably damaging 0.2 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC rs747535826 3q13.2 3 112827056T> G null T P 191 191 missense 0.958 probably damaging 0.09 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC rs748386388 3q13.2 3 112827050T> G null T P 193 193 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 Ensembl rs867673941 3q13.2 3 112827046C> T null C Y 194 194 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,NCI-TCGA,gnomAD rs375349280 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 3q13.2 3 112827044G> T null H N 195 195 missense 0.498 possibly damaging 0.13 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs753819964 3q13.2 3 112827042A> C null H Q 195 195 missense 0.677 possibly damaging 0.1 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1410520040 3q13.2 3 112827043T> C null H R 195 195 missense 0.677 possibly damaging 0.14 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,gnomAD rs375349280 3q13.2 3 112827044G> A null H Y 195 195 missense 0.756 possibly damaging 0.2 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs757128257 3q13.2 3 112827030C> G null L F 199 199 missense 0.994 probably damaging 0.06 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61740125 3q13.2 3 112827028G> A null T I 200 200 0.04014 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61740125 3q13.2 3 112827028G> T null T N 200 200 0.04014 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs377219496 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q13.2 3 112827029T> A null T S 200 200 missense 0.953 probably damaging 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs764759365 3q13.2 3 112827018C> G null K N 203 203 missense 0.828 possibly damaging 0.01 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed,gnomAD rs1314752719 3q13.2 3 112827016C> A null S I 204 204 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs759258496 3q13.2 3 112827017T> G null S R 204 204 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs912400011 3q13.2 3 112827013A> T null L Q 205 205 missense 0.437 benign 0.05 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs912400011 3q13.2 3 112827013A> C null L R 205 205 missense 0.888 possibly damaging 0.07 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs142953807 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q13.2 3 112827008C> T null V I 207 207 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1242173718 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q13.2 3 112827000C> G null L F 209 209 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs752387487 3q13.2 3 112819895C> T null G D 212 212 missense 0.012 benign 0.15 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1047036334 3q13.2 3 112819889C> T null R K 214 214 missense 0.006 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs950016209 3q13.2 3 112819880C> G null G A 217 217 missense 0.007 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs372575205 3q13.2 3 112819878A> C null S A 218 218 missense 0.121 benign 0.86 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs369541871 3q13.2 3 112819877G> C null S C 218 218 missense 0.022 benign 0.14 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs369541871 3q13.2 3 112819877G> T null S Y 218 218 missense 0.014 benign 0.49 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs191314755 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 3q13.2 3 112819871G> A null A V 220 220 2.0E-4 missense 0.0 benign 0.68 tolerated 1 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs773821172 3q13.2 3 112819868A> C null L W 221 221 missense 0.86 possibly damaging 0.19 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 Ensembl rs979545045 3q13.2 3 112819865G> C null S C 222 222 missense 0.436 benign 0.17 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs767868677 3q13.2 3 112819859A> G null L P 224 224 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1466628456 3q13.2 3 112819847T> C null Y C 228 228 missense 0.049 benign 0.11 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201532373 3q13.2 3 112819844A> T null V E 229 229 2.0E-4 missense 0.523 possibly damaging 0.04 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 TOPMed rs1389996335 3q13.2 3 112819838A> G null L P 231 231 missense 0.758 possibly damaging 0.23 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,TOPMed,gnomAD rs775739231 3q13.2 3 112819833G> C null L V 233 233 missense 0.234 benign 0.38 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1260928322 3q13.2 3 112819829A> C null F C 234 234 missense 0.753 possibly damaging 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs769834417 3q13.2 3 112819830A> C null F V 234 234 missense 0.142 benign 0.3 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs540553642 3q13.2 3 112819827C> T null V M 235 235 missense 0.025 benign 0.25 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs781356900 3q13.2 3 112819824C> A null V F 236 236 missense 0.216 benign 0.03 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 NCI-TCGA,gnomAD rs754743078 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3q13.2 3 112819818G> T null L M 238 238 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1451722608 3q13.2 3 112819811G> A null T I 240 240 missense 0.0 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1396639532 3q13.2 3 112819806C> T null G R 242 242 missense 0.953 probably damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs748124869 3q13.2 3 112819800C> T null V I 244 244 missense 0.003 benign 1.0 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 Ensembl rs541751891 3q13.2 3 112819790T> C null Q R 247 247 missense 0.187 benign 0.84 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs374707224 3q13.2 3 112819778T> G null H P 251 251 missense 0.018 benign 0.21 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ESP,ExAC,TOPMed,gnomAD rs374707224 3q13.2 3 112819778T> C null H R 251 251 missense 0.013 benign 0.39 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1443178364 3q13.2 3 112819776C> A null V F 252 252 missense 0.001 benign 0.26 tolerated 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 gnomAD rs1288551460 3q13.2 3 112819772C> T null R K 253 253 missense 0.622 possibly damaging 0.0 deleterious 0 A0A087WT28 CD200R1L Cell surface glycoprotein CD200 receptor 2 ExAC,gnomAD rs755865069 3q13.2 3 112819769T> C null * W 254 254 stop lost 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ExAC,TOPMed,gnomAD rs78938272 12q23.3 12 104986358G> C null E D 2 2 2.0E-4 missense 0.333 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs958676661 12q23.3 12 104986357A> G null E G 2 2 missense 0.968 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1179246349 12q23.3 12 104986356G> A null E K 2 2 missense 0.968 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs958676661 12q23.3 12 104986357A> T null E V 2 2 missense 0.984 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs1452414826 12q23.3 12 104986359G> A null V I 3 3 missense 0.539 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs368545818 12q23.3 12 104986362C> G null H D 4 4 missense 0.39 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs771638970 12q23.3 12 104986363A> T null H L 4 4 missense 0.39 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs771638970 12q23.3 12 104986363A> G null H R 4 4 missense 0.013 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs368545818 12q23.3 12 104986362C> T null H Y 4 4 missense 0.804 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1225201049 12q23.3 12 104986366G> A null G D 5 5 missense 0.117 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12580271 12q23.3 12 104986365G> C null G R 5 5 0.05371 missense 0.923 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs12580271 12q23.3 12 104986365G> A null G S 5 5 0.05371 missense 0.221 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1308394065 12q23.3 12 104986368A> G null K E 6 6 missense 0.001 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs776314525 12q23.3 12 104986370G> T null K N 6 6 missense 0.005 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs776314525 12q23.3 12 104986370G> C null K N 6 6 missense 0.005 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs374254858 12q23.3 12 104986372C> T null P L 7 7 missense 0.009 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs374254858 12q23.3 12 104986372C> G null P R 7 7 missense 0.015 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1215149969 12q23.3 12 104986371C> T null P S 7 7 missense 0.015 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1129593 12q23.3 12 104986374A> T null K * 8 8 0.4036 stop gained 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs1129593 12q23.3 12 104986374A> G null K E 8 8 0.4036 missense 0.001 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1129593 12q23.3 12 104986374A> C null K Q 8 8 0.4036 missense 0.0 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs935241447 12q23.3 12 104986378C> A null A D 9 9 missense 0.022 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs1368139956 12q23.3 12 104986377G> T null A S 9 9 missense 0.041 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs935241447 12q23.3 12 104986378C> T null A V 9 9 missense 0.39 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371639910 12q23.3 12 104986381G> T null S I 10 10 5.99E-4 missense 0.015 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371639910 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 12q23.3 12 104986381G> A null S N 10 10 5.99E-4 missense 0.005 benign 1 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1193344182 12q23.3 12 104986382C> A null S R 10 10 missense 0.009 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371639910 12q23.3 12 104986381G> C null S T 10 10 5.99E-4 missense 0.009 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs777900503 12q23.3 12 104986383C> G null P A 11 11 missense 0.01 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ExAC,TOPMed,gnomAD rs535539364 12q23.3 12 104986384C> T null P L 11 11 2.0E-4 missense 0.023 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ExAC,TOPMed,gnomAD rs535539364 12q23.3 12 104986384C> G null P R 11 11 2.0E-4 missense 0.659 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs777900503 12q23.3 12 104986383C> T null P S 11 11 missense 0.041 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs777900503 12q23.3 12 104986383C> A null P T 11 11 missense 0.311 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1309858163 12q23.3 12 104986392T> C null S P 14 14 missense 0.081 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1346481293 12q23.3 12 104986396C> T null S L 15 15 missense 0.023 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,NCI-TCGA,gnomAD rs746380021 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104986399C> T null P L 16 16 missense 0.009 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1419889053 12q23.3 12 104986398C> A null P T 16 16 missense 0.164 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs374997946 12q23.3 12 104986402C> T null T I 17 17 missense 0.386 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC rs746561893 12q23.3 12 104986405G> A null R Q 18 18 missense 0.007 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1372485617 12q23.3 12 104986404C> T null R W 18 18 missense 0.014 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117368247 12q23.3 12 104986407G> C null D H 19 19 0.008786 missense 0.849 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs117368247 12q23.3 12 104986407G> A null D N 19 19 0.008786 missense 0.013 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ExAC rs201369478 12q23.3 12 104986408A> T null D V 19 19 2.0E-4 missense 0.037 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1355986071 12q23.3 12 104986416G> C null G R 22 22 missense 0.117 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,gnomAD rs371351832 12q23.3 12 104986419G> A null V I 23 23 missense 0.108 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,gnomAD rs371351832 12q23.3 12 104986419G> C null V L 23 23 missense 0.105 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1345136814 12q23.3 12 104986422C> G null P A 24 24 missense 0.036 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC rs766374958 12q23.3 12 104986433G> T null K N 27 27 missense 0.071 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs763003278 12q23.3 12 104986432A> G null K R 27 27 missense 0.017 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs751516011 12q23.3 12 104986438T> C null L P 29 29 missense 0.994 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1470032125 12q23.3 12 104986443A> G null T A 31 31 missense 0.508 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1366246266 12q23.3 12 104986447C> T null A V 32 32 missense 0.114 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs764224128 12q23.3 12 104986452A> G null S G 34 34 missense 0.557 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1410711100 12q23.3 12 104986461C> G null R G 37 37 missense 0.006 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs754078464 12q23.3 12 104986462G> A null R H 37 37 missense 0.007 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs754078464 12q23.3 12 104986462G> C null R P 37 37 missense 0.013 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1260434167 12q23.3 12 104988167G> A null G D 39 39 missense 0.998 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs779264151 12q23.3 12 104986467G> C null G R 39 39 missense 0.999 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ExAC,TOPMed,gnomAD rs553044327 12q23.3 12 104988169A> T null I L 40 40 2.0E-4 missense 0.065 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1240681412 12q23.3 12 104988170T> C null I T 40 40 missense 0.913 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ExAC,TOPMed,gnomAD rs553044327 12q23.3 12 104988169A> G null I V 40 40 2.0E-4 missense 0.182 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs765405252 12q23.3 12 104988174G> A null W * 41 41 stop gained 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs765405252 12q23.3 12 104988174G> T null W C 41 41 missense 0.992 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1287594745 12q23.3 12 104988179G> T null R M 43 43 missense 0.944 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed rs369869604 12q23.3 12 104988178A> T null R W 43 43 missense 0.974 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1229862203 12q23.3 12 104988185T> C null L P 45 45 missense 0.986 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1285075238 12q23.3 12 104988187A> T null I F 46 46 missense 0.994 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs752012117 12q23.3 12 104988200C> T null P L 50 50 missense 0.897 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs752012117 12q23.3 12 104988200C> G null P R 50 50 missense 0.315 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,gnomAD rs187213332 12q23.3 12 104988199C> T null P S 50 50 2.0E-4 missense 0.897 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1348793939 12q23.3 12 104988209G> C null R T 53 53 missense 0.848 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs1400090256 12q23.3 12 104988213G> C null K N 54 54 missense 0.721 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs755650170 12q23.3 12 104988221C> T null T I 57 57 missense 0.209 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1398436956 12q23.3 12 104988232G> A null V I 61 61 missense 0.347 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs748939881 12q23.3 12 104988235C> G null R G 62 62 missense 0.89 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs770919118 12q23.3 12 104988236G> A null R Q 62 62 missense 0.476 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,NCI-TCGA,TOPMed,gnomAD rs748939881 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104988235C> T null R W 62 62 missense 0.148 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,TOPMed,gnomAD rs201752109 cosmic curated [Cosmic]: liver pubmed:23788652,cosmic_study:527 12q23.3 12 104988239T> C null I T 63 63 2.0E-4 missense 0.885 possibly damaging 1 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1347819210 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104988241G> C null E Q 64 64 missense 0.305 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs745808467 12q23.3 12 104988246G> C null R S 65 65 missense 0.948 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1283003969 12q23.3 12 104988245G> C null R T 65 65 missense 0.962 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs374019637 12q23.3 12 104988250C> G null P A 67 67 missense 0.987 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs776606163 12q23.3 12 104988251C> T null P L 67 67 missense 0.781 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs374019637 12q23.3 12 104988250C> T null P S 67 67 missense 0.982 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1349109962 12q23.3 12 104991712T> G null L * 68 68 stop gained 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1160591371 12q23.3 12 104991719C> G null D E 70 70 missense 0.205 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs756914491 12q23.3 12 104991718A> T null D V 70 70 missense 0.98 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1424316795 12q23.3 12 104991722G> C null Q H 71 71 missense 0.978 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs778597849 12q23.3 12 104991721A> C null Q P 71 71 missense 0.477 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs771733790 12q23.3 12 104991727A> G null Q R 73 73 missense 0.248 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1241296847 12q23.3 12 104991730C> T null T I 74 74 missense 0.894 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs373550337 12q23.3 12 104991735C> T null L F 76 76 missense 0.984 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs746944094 12q23.3 12 104991742A> G null Q R 78 78 missense 0.447 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs773217138 12q23.3 12 104991745T> C null M T 79 79 missense 0.856 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs769865983 12q23.3 12 104991744A> G null M V 79 79 missense 0.259 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ExAC,TOPMed,gnomAD rs565928398 12q23.3 12 104991751G> A null R Q 81 81 2.0E-4 missense 0.003 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs377566774 12q23.3 12 104991750C> T null R W 81 81 missense 0.02 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs759991708 12q23.3 12 104991756A> G null N D 83 83 missense 0.991 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145611751 12q23.3 12 104991757A> T null N I 83 83 5.99E-4 missense 0.997 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145611751 12q23.3 12 104991757A> G null N S 83 83 5.99E-4 missense 0.918 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 Ensembl rs1565938719 12q23.3 12 104991760A> C null E A 84 84 missense 0.961 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs761199161 12q23.3 12 104991759G> C null E Q 84 84 missense 0.988 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373230527 12q23.3 12 104991764G> T null K N 85 85 2.0E-4 missense 0.967 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs753351037 12q23.3 12 104991772A> G null K R 88 88 missense 0.234 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 Ensembl rs549921928 12q23.3 12 104991779G> T null M I 90 90 missense 0.124 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1467273417 12q23.3 12 104991778T> C null M T 90 90 missense 0.9 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs1213146909 12q23.3 12 104991780G> A null A T 91 91 missense 0.272 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs757002789 12q23.3 12 104991781C> T null A V 91 91 missense 0.844 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,gnomAD rs191930196 12q23.3 12 104991787C> T null A V 93 93 2.0E-4 missense 0.386 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs778667970 12q23.3 12 104991793C> T null P L 95 95 missense 0.955 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs758280475 12q23.3 12 104991796G> A null G D 96 96 missense 0.205 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP rs377084571 12q23.3 12 104991798C> T null R C 97 97 missense 0.03 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199516315 12q23.3 12 104991799G> A null R H 97 97 3.99E-4 missense 0.018 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs200931216 12q23.3 12 104991817T> C null I T 103 103 missense 0.03 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1347614516 12q23.3 12 104991822G> T null G W 105 105 missense 0.994 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs768529525 12q23.3 12 104991826C> T null P L 106 106 missense 0.006 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs777858752 12q23.3 12 104991828C> G null H D 107 107 missense 0.185 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs777858752 12q23.3 12 104991828C> T null H Y 107 107 missense 0.388 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs749405652 12q23.3 12 104991835A> C null K T 109 109 missense 0.23 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,gnomAD rs368287596 12q23.3 12 104991838T> G null V G 110 110 missense 0.986 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs999687757 12q23.3 12 104991840A> G null I V 111 111 missense 0.163 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs746117924 12q23.3 12 104994484G> T null A S 116 116 missense 0.99 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1257882494 12q23.3 12 104994491T> C null F S 118 118 missense 0.749 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1490595824 12q23.3 12 104994494A> C null E A 119 119 missense 0.992 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1401833748 12q23.3 12 104994496A> T null M L 120 120 missense 0.469 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 Ensembl rs911291904 12q23.3 12 104994497T> G null M R 120 120 missense 0.953 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs371748784 12q23.3 12 104994502C> T null Q * 122 122 stop gained 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs776031032 12q23.3 12 104994503A> G null Q R 122 122 missense 0.026 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs747421151 12q23.3 12 104994506C> T null S L 123 123 missense 0.09 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1479016857 12q23.3 12 104994505T> C null S P 123 123 missense 0.059 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs747421151 12q23.3 12 104994506C> G null S W 123 123 missense 0.977 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs777336739 12q23.3 12 104994520G> C null V L 128 128 missense 0.037 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs777336739 12q23.3 12 104994520G> A null V M 128 128 missense 0.01 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs764815193 12q23.3 12 104994526A> T null S C 130 130 missense 0.222 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs764815193 12q23.3 12 104994526A> G null S G 130 130 missense 0.105 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs1452519363 12q23.3 12 104994530C> T null S L 131 131 missense 0.398 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1295976440 12q23.3 12 104994532G> A null E K 132 132 missense 0.852 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1222938914 12q23.3 12 104994542C> T null S L 135 135 missense 0.333 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1362127730 12q23.3 12 104994544C> T null Q * 136 136 stop gained 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs374710696 12q23.3 12 104994549C> G null D E 137 137 missense 0.149 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 Ensembl rs1204234999 12q23.3 12 104994550A> G null S G 138 138 missense 0.061 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs766056750 12q23.3 12 104994551G> T null S I 138 138 missense 0.915 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs766056750 12q23.3 12 104994551G> C null S T 138 138 missense 0.16 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 Ensembl rs11554636 12q23.3 12 104994562A> G null S G 142 142 missense 0.159 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1285365196 12q23.3 12 104994568G> T null E * 144 144 stop gained 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed rs367786401 12q23.3 12 104994569A> T null E V 144 144 missense 0.844 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,ExAC,TOPMed,gnomAD rs138936935 12q23.3 12 104994572C> T null S L 145 145 5.99E-4 missense 0.939 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1303453153 12q23.3 12 104994577G> A null D N 147 147 missense 0.331 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs755952301 12q23.3 12 104994580G> A null E K 148 148 missense 0.362 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,TOPMed,gnomAD rs779076625 12q23.3 12 104994584A> G null D G 149 149 missense 0.105 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs745896625 12q23.3 12 104994590G> A null S N 151 151 missense 0.848 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1246541660 12q23.3 12 104994592A> G null I V 152 152 missense 0.02 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP rs376760830 12q23.3 12 104994595C> T null P S 153 153 missense 0.044 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs758473392 12q23.3 12 104994608C> T null T I 157 157 missense 0.992 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs747222960 12q23.3 12 104994611T> C null I T 158 158 missense 0.053 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,NCI-TCGA,gnomAD rs780475223 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 12q23.3 12 104994610A> G null I V 158 158 missense 0.007 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ExAC,gnomAD rs769146367 12q23.3 12 104994614A> G null D G 159 159 missense 0.897 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1203090211 12q23.3 12 104994628C> T null P S 164 164 missense 0.868 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 ESP,ExAC,TOPMed,gnomAD rs369460633 12q23.3 12 104994632A> G null N S 165 165 missense 0.098 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1302246468 12q23.3 12 104994634T> C null S P 166 166 missense 0.975 probably damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs1360654997 12q23.3 12 104995876G> T null E D 172 172 missense 0.807 possibly damaging 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs905277559 12q23.3 12 104995878C> T null T M 173 173 missense 0.015 benign 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,TOPMed,gnomAD rs531219721 12q23.3 12 104995889C> T null R C 177 177 2.0E-4 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1443398888 12q23.3 12 104995890G> A null R H 177 177 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs12315433 12q23.3 12 104995896G> A null S N 179 179 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs12315433 12q23.3 12 104995896G> C null S T 179 179 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,TOPMed,gnomAD rs112155771 12q23.3 12 104995904G> T null G C 182 182 0.05531 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1011885354 12q23.3 12 104995907C> G null L V 183 183 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs573962075 12q23.3 12 104995911A> G null N S 184 184 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,TOPMed,gnomAD rs568263251 12q23.3 12 104995913C> G null L V 185 185 3.99E-4 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 Ensembl rs1555222141 12q23.3 12 104995923C> T null S L 188 188 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs1483580675 12q23.3 12 104995926G> T null C F 189 189 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs895821643 12q23.3 12 104995928T> C null S P 190 190 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1370672951 12q23.3 12 104995932C> A null T N 191 191 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1309496850 12q23.3 12 104995935T> C null L P 192 192 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1431951185 12q23.3 12 104995941A> G null D G 194 194 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1371554381 12q23.3 12 104995943C> G null L V 195 195 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1456821470 12q23.3 12 104995949A> C null K Q 197 197 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs986426736 12q23.3 12 104995953G> A null C Y 198 198 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed,gnomAD rs1244844712 12q23.3 12 104995977C> T null P L 206 206 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes,TOPMed rs553671137 12q23.3 12 104995976C> T null P S 206 206 2.0E-4 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs1220032756 12q23.3 12 104995982C> G null P A 208 208 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 TOPMed rs761082651 12q23.3 12 104995983C> T null P L 208 208 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 gnomAD rs1421358383 12q23.3 12 104995985G> T null A S 209 209 missense 0.0 unknown 0 A0A087WT30 C12orf45 Uncharacterized protein C12orf45 1000Genomes rs150805175 12q23.3 12 104995992A> G null N S 211 211 2.0E-4 missense 0.0 unknown 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) TOPMed,gnomAD rs746398512 20q11.23 20 38006269G> A null Q * 2 2 stop gained 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) ExAC,TOPMed,gnomAD rs749118425 20q11.23 20 38006259A> G null L P 5 5 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) ExAC,TOPMed,gnomAD rs749118425 20q11.23 20 38006259A> C null L R 5 5 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) TOPMed rs933856074 20q11.23 20 38006251G> C null L V 8 8 missense 0.794 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) ExAC,TOPMed,gnomAD rs559741105 20q11.23 20 38006246T> G null K N 9 9 missense 0.344 benign 0.01 deleterious - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) gnomAD rs1216405080 20q11.23 20 38006241T> C null K R 11 11 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) TOPMed rs1350614939 20q11.23 20 38006239C> A null D Y 12 12 missense 0.847 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) TOPMed rs1212434984 20q11.23 20 38006229T> C null D G 15 15 missense 0.079 benign 0.03 deleterious - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) ExAC rs752578679 20q11.23 20 38006226C> G null G A 16 16 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) Ensembl rs893866055 20q11.23 20 38006223T> C null N S 17 17 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) TOPMed,gnomAD rs1284284350 20q11.23 20 38006220A> C null V G 18 18 missense 0.775 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) ExAC,TOPMed,gnomAD rs200033530 cosmic curated [Cosmic]: liver cosmic_study:381 20q11.23 20 38006217G> A null S L 19 19 missense 0.964 probably damaging 0.72 tolerated - low confidence 1 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) gnomAD rs1249009372 20q11.23 20 38006213A> T null D E 20 20 missense 0.003 benign 0.17 tolerated - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) TOPMed rs1252216018 20q11.23 20 38006206T> C null N D 23 23 missense 0.0 benign 0.17 tolerated - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) ExAC,TOPMed,gnomAD rs751257232 20q11.23 20 38006205T> C null N S 23 23 missense 0.001 benign 0.26 tolerated - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) 1000Genomes,ExAC,gnomAD rs555849956 20q11.23 20 38006191A> C null L V 28 28 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT32 TTI1 TELO2-interacting protein 1 homolog (Fragment) ExAC,TOPMed,gnomAD rs762540124 20q11.23 20 38006184A> G null I T 30 30 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1485570265 19p13.3 19 1585153C> T null D N 2 2 missense 0.261 benign 0.03 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed,gnomAD rs905749256 19p13.3 19 1585152T> A null D V 2 2 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) Ensembl rs891263141 19p13.3 19 1585147T> G null S R 4 4 missense 0.889 possibly damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed rs1279896089 19p13.3 19 1585143G> A null T I 5 5 missense 0.087 benign 0.02 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1291417685 19p13.3 19 1585133G> T null F L 8 8 missense 0.915 probably damaging 0.02 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1414060816 19p13.3 19 1585131C> T null R H 9 9 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ESP,ExAC,gnomAD rs369219065 19p13.3 19 1585128G> A null T M 10 10 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ESP,ExAC,gnomAD rs369219065 19p13.3 19 1585128G> C null T R 10 10 missense 0.688 possibly damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1314476886 19p13.3 19 1585120T> A null M L 13 13 missense 0.066 benign 0.16 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs778889439 19p13.3 19 1585112C> T null M I 15 15 missense 0.045 benign 0.39 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,TOPMed,gnomAD rs777419010 19p13.3 19 1585106C> G null K N 17 17 missense 0.852 possibly damaging 0.01 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs562319591 19p13.3 19 1585107T> C null K R 17 17 2.0E-4 missense 0.143 benign 0.17 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1163480179 19p13.3 19 1585103C> T null M I 18 18 missense 0.0 benign 0.15 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed rs1478551825 19p13.3 19 1585100G> C null N K 19 19 missense 0.029 benign 0.44 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs755513010 19p13.3 19 1585099T> C null K E 20 20 missense 0.83 possibly damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs752269261 19p13.3 19 1585098T> C null K R 20 20 missense 0.05 benign 0.08 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed rs1193433069 19p13.3 19 1585093G> A null R C 22 22 missense 0.856 possibly damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ESP,ExAC rs138922555 19p13.3 19 1585089T> C null Q R 23 23 missense 0.023 benign 0.44 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1260547532 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1585086C> T null R H 24 24 missense 0.902 possibly damaging 0.06 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1260547532 19p13.3 19 1585086C> G null R P 24 24 missense 0.923 probably damaging 0.01 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,NCI-TCGA,gnomAD rs750757721 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1585081G> A null R C 26 26 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs765645270 19p13.3 19 1585080C> G null R P 26 26 missense 0.907 possibly damaging 0.06 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed rs941353356 19p13.3 19 1585077T> C null Y C 27 27 missense 0.662 possibly damaging 0.06 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed,gnomAD rs1335332991 19p13.3 19 1585073G> T null D E 28 28 missense 0.023 benign 0.16 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs764313106 19p13.3 19 1585075C> T null D N 28 28 missense 0.567 possibly damaging 0.04 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1294910379 19p13.3 19 1585072A> C null S A 29 29 missense 0.003 benign 0.49 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed,gnomAD rs1224919713 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1585071G> A null S F 29 29 missense 0.125 benign 0.69 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed,gnomAD rs1224919713 19p13.3 19 1585071G> T null S Y 29 29 missense 0.091 benign 1.0 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed rs1434028918 19p13.3 19 1585060C> G null V L 33 33 missense 0.011 benign 0.78 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1323902098 19p13.3 19 1585056T> G null K T 34 34 missense 0.539 possibly damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs751714967 19p13.3 19 1584677C> T null G S 35 35 missense 0.041 benign 0.15 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ESP,TOPMed,gnomAD rs141837928 19p13.3 19 1584668C> T null D N 38 38 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1156358847 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1584658G> A null T M 41 41 missense 0.926 probably damaging 0.03 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed rs1469148704 19p13.3 19 1584656C> A null A S 42 42 missense 0.003 benign 0.39 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed,gnomAD rs1399658369 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1584655G> A null A V 42 42 missense 0.017 benign 0.9 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ESP,ExAC,TOPMed,gnomAD rs147057571 19p13.3 19 1584647C> G null V L 45 45 missense 0.247 benign 0.01 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ESP,ExAC,TOPMed,gnomAD rs147057571 19p13.3 19 1584647C> T null V M 45 45 missense 0.765 possibly damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1486133909 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1584644G> A null R C 46 46 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373052574 19p13.3 19 1584639C> A null Q H 47 47 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed,gnomAD rs1285024846 19p13.3 19 1584624G> T null F L 52 52 missense 0.876 possibly damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs777996631 19p13.3 19 1584620G> T null Q K 54 54 missense 0.443 benign 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) Ensembl rs1568276044 19p13.3 19 1584616G> A null P L 55 55 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1234244334 19p13.3 19 1584604A> G null I T 59 59 missense 0.071 benign 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs755286081 19p13.3 19 1584597G> T null N K 61 61 missense 0.496 possibly damaging 0.15 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,TOPMed rs781428165 19p13.3 19 1584598T> C null N S 61 61 missense 0.061 benign 0.2 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ESP,gnomAD rs141610896 19p13.3 19 1584589C> T null S N 64 64 missense 0.001 benign 0.29 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1321894827 19p13.3 19 1584588G> C null S R 64 64 missense 0.14 benign 0.04 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed,gnomAD rs917325754 19p13.3 19 1584586T> C null N S 65 65 missense 0.109 benign 0.34 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed,gnomAD rs1045209798 19p13.3 19 1584584T> G null K Q 66 66 missense 0.916 probably damaging 0.01 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs758400542 19p13.3 19 1584583T> C null K R 66 66 missense 0.414 benign 0.07 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed rs1272865063 19p13.3 19 1584568G> A null P L 71 71 missense 0.087 benign 0.21 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1475203675 19p13.3 19 1584569G> A null P S 71 71 missense 0.102 benign 0.09 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed rs1436595992 19p13.3 19 1584560C> G null A P 74 74 missense 0.806 possibly damaging 0.02 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs771638989 19p13.3 19 1584553T> G null D A 76 76 missense 0.04 benign 0.01 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) 1000Genomes,ExAC rs201243195 19p13.3 19 1584547G> A null P L 78 78 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs770227083 19p13.3 19 1584545G> A null R C 79 79 missense 0.932 probably damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed,gnomAD rs1406678915 19p13.3 19 1584544C> T null R H 79 79 missense 0.135 benign 0.03 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed rs1314159055 19p13.3 19 1582703C> T null E K 84 84 missense 0.083 benign 0.04 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,TOPMed,gnomAD rs753783928 19p13.3 19 1582688C> T null G S 89 89 missense 0.228 benign 0.04 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1467683748 19p13.3 19 1582687C> A null G V 89 89 missense 0.58 possibly damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,TOPMed,gnomAD rs755847197 19p13.3 19 1582679C> T null A T 92 92 missense 0.026 benign 0.02 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs200289849 19p13.3 19 1582674G> C null F L 93 93 2.0E-4 missense 0.0 benign 0.59 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370132757 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.3 19 1582673C> T null D N 94 94 missense 0.221 benign 0.04 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367828893 19p13.3 19 1582670T> C null I V 95 95 2.0E-4 missense 0.006 benign 0.68 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs777218101 19p13.3 19 1582655C> G null V L 100 100 missense 0.003 benign 0.36 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,TOPMed,gnomAD rs761076443 19p13.3 19 1582646T> C null M V 103 103 missense 0.043 benign 0.01 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,TOPMed,gnomAD rs776033453 19p13.3 19 1582641G> T null D E 104 104 missense 0.006 benign 0.77 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1291236816 19p13.3 19 1582640G> A null L F 105 105 missense 0.745 possibly damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,TOPMed,gnomAD rs746133786 19p13.3 19 1582632C> G null K N 107 107 missense 0.043 benign 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1335158734 19p13.3 19 1582630C> G null G A 108 108 missense 0.012 benign 0.12 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,TOPMed,gnomAD rs749385144 19p13.3 19 1582623C> A null Q H 110 110 missense 0.617 possibly damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1458238476 19p13.3 19 1582624T> A null Q L 110 110 missense 0.102 benign 0.01 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1370314999 19p13.3 19 1581269C> T null G E 111 111 missense 0.264 benign 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) Ensembl rs796723516 19p13.3 19 1581267C> A null V L 112 112 missense 0.101 benign 0.09 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1431248256 19p13.3 19 1581257C> T null G D 115 115 missense 0.191 benign 0.48 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,gnomAD rs776377808 19p13.3 19 1581251G> A null T M 117 117 missense 0.93 probably damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1179529706 19p13.3 19 1581248T> C null D G 118 118 missense 0.796 possibly damaging 0.09 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143527255 19p13.3 19 1581249C> T null D N 118 118 missense 0.123 benign 0.05 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ExAC,TOPMed,gnomAD rs746746193 19p13.3 19 1581246C> T null E K 119 119 missense 0.029 benign 0.18 tolerated 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) gnomAD rs1252272706 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 1581242G> A null T M 120 120 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) TOPMed rs1157020187 19p13.3 19 1581233G> A null S L 123 123 missense 0.142 benign 0.04 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201867850 19p13.3 19 1581225C> T null A T 126 126 2.0E-4 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WT34 MBD3 Methyl-CpG-binding domain protein 3 (Fragment) ESP,ExAC,TOPMed,gnomAD rs145615887 19p13.3 19 1581219C> T null A T 128 128 missense 0.464 possibly damaging 0.02 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,gnomAD rs777642616 17q12 17 38786871T> A null D V 6 6 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC rs758534498 17q12 17 38786865T> C null K R 8 8 missense 0.335 benign 0.14 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs779324819 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 17q12 17 38786844A> G null V A 15 15 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,TOPMed,gnomAD rs199776451 17q12 17 38786845C> G null V L 15 15 missense 0.927 probably damaging 0.01 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,gnomAD rs754320397 17q12 17 38786838T> C null N S 17 17 missense 0.977 probably damaging 0.01 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,TOPMed,gnomAD rs766896792 17q12 17 38786827T> G null N H 21 21 missense 0.557 possibly damaging 0.1 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) gnomAD rs957393580 17q12 17 38784336C> G null E D 23 23 missense 0.533 possibly damaging 0.08 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) gnomAD rs1274488130 17q12 17 38784329G> A null P S 26 26 missense 0.931 probably damaging 0.01 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) gnomAD rs1172251049 17q12 17 38784325C> T null S N 27 27 missense 0.411 benign 0.1 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,NCI-TCGA,gnomAD rs779273477 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 17q12 17 38784322C> T null R H 28 28 missense 0.0 benign 1.0 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) Ensembl rs1567658999 17q12 17 38784314A> G null F L 31 31 missense 0.082 benign 0.03 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,gnomAD rs749535733 17q12 17 38784299G> A null P S 36 36 missense 0.989 probably damaging 0.03 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,TOPMed,gnomAD rs534790786 17q12 17 38784286C> T null R Q 40 40 missense 0.557 possibly damaging 0.03 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,gnomAD rs750848424 17q12 17 38784280A> T null L H 42 42 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,gnomAD rs768121542 17q12 17 38784277C> T null R Q 43 43 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) 1000Genomes,ExAC,gnomAD rs537413271 17q12 17 38784266C> T null G R 47 47 5.99E-4 missense 0.818 possibly damaging 0.0 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) TOPMed rs1338197558 17q12 17 38784260C> T null D N 49 49 missense 0.275 benign 0.07 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) TOPMed rs1193503298 17q12 17 38784257C> A null D Y 50 50 missense 0.864 possibly damaging 0.0 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,gnomAD rs763725996 17q12 17 38784253T> C null Q R 51 51 missense 0.157 benign 0.52 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,TOPMed,gnomAD rs752420659 17q12 17 38784251C> T null D N 52 52 missense 0.873 possibly damaging 0.0 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs192535553 17q12 17 38780594G> A null T M 58 58 2.0E-4 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,gnomAD rs768809374 17q12 17 38780591C> T null R H 59 59 missense 0.96 probably damaging 0.09 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) gnomAD rs1216175674 17q12 17 38780585G> A null A V 61 61 missense 0.296 benign 0.17 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) Ensembl rs915262204 17q12 17 38780576T> C null N S 64 64 missense 0.017 benign 0.75 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,gnomAD rs746208971 17q12 17 38780573C> A null S I 65 65 missense 0.081 benign 0.49 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,gnomAD rs781482052 17q12 17 38780572A> T null S R 65 65 missense 0.14 benign 0.43 tolerated 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) TOPMed,gnomAD rs867030527 17q12 17 38780567C> A null S I 67 67 missense 0.2 benign 0.0 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) TOPMed,gnomAD rs570311434 17q12 17 38780566G> T null S R 67 67 missense 0.691 possibly damaging 0.01 deleterious 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) ExAC,TOPMed,gnomAD rs771312314 17q12 17 38780558C> T null R Q 70 70 missense 0.298 benign 0.01 deleterious - low confidence 0 A0A087WT35 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (Fragment) Ensembl rs1567656983 17q12 17 38780559G> A null R W 70 70 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1339041986 1p33 1 46343398G> A null A T 3 3 missense 0.691 possibly damaging 0.0 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes rs187597617 1p33 1 46343414G> T null C F 8 8 2.0E-4 missense 0.516 possibly damaging 0.09 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) gnomAD rs1165453680 1p33 1 46343420A> C null E A 10 10 missense 0.497 possibly damaging 0.04 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1039817731 1p33 1 46343452C> T null P S 21 21 missense 0.034 benign 0.48 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes,TOPMed,gnomAD rs144132611 1p33 1 46343468C> G null S C 26 26 missense 0.848 possibly damaging 0.12 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes,TOPMed,gnomAD rs144132611 1p33 1 46343468C> T null S F 26 26 missense 0.692 possibly damaging 0.01 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed,gnomAD rs992992296 1p33 1 46343471G> T null S I 27 27 missense 0.617 possibly damaging 0.01 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1189876895 1p33 1 46343474G> A null C Y 28 28 missense 0.598 possibly damaging 0.01 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) Ensembl rs947596081 1p33 1 46343486C> G null P R 32 32 missense 0.908 possibly damaging 0.12 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes,TOPMed,gnomAD rs191638634 1p33 1 46343489G> A null S N 33 33 9.98E-4 missense 0.393 benign 0.03 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes,TOPMed,gnomAD rs537473168 1p33 1 46343498C> A null S * 36 36 3.99E-4 stop gained 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes,TOPMed,gnomAD rs537473168 1p33 1 46343498C> T null S L 36 36 3.99E-4 missense 0.514 possibly damaging 0.15 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes,TOPMed,gnomAD rs537473168 1p33 1 46343498C> G null S W 36 36 3.99E-4 missense 0.883 possibly damaging 0.01 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1003090207 1p33 1 46343500A> G null T A 37 37 missense 0.398 benign 0.05 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1273140960 1p33 1 46343507T> A null I N 39 39 missense 0.516 possibly damaging 0.0 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed,gnomAD rs973614161 1p33 1 46343506A> G null I V 39 39 missense 0.071 benign 0.15 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) Ensembl rs775928796 1p33 1 46343510G> A null S N 40 40 missense 0.393 benign 0.18 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) Ensembl rs1035942378 1p33 1 46343518C> T null Q * 43 43 stop gained 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed,gnomAD rs896189484 1p33 1 46343532C> A null S R 47 47 missense 0.514 possibly damaging 0.15 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1234325082 1p33 1 46343533G> A null E K 48 48 missense 0.0 benign 0.02 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1355195263 1p33 1 46343541G> T null R S 50 50 missense 0.412 benign 0.39 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1282734039 1p33 1 46343546C> G null S C 52 52 missense 0.848 possibly damaging 0.03 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed,gnomAD rs1316878296 1p33 1 46343551C> A null Q K 54 54 missense 0.095 benign 0.06 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) gnomAD rs1216529586 1p33 1 46343554A> G null S G 55 55 missense 0.302 benign 0.31 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) Ensembl rs1557736236 1p33 1 46343555G> T null S I 55 55 missense 0.617 possibly damaging 0.02 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed,gnomAD rs1023409140 1p33 1 46343564G> A null R Q 58 58 missense 0.0 benign 0.49 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed,gnomAD rs1012314193 1p33 1 46343563C> T null R W 58 58 missense 0.046 benign 0.11 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1389727914 1p33 1 46343569C> T null Q * 60 60 stop gained 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs973947238 1p33 1 46343575A> G null K E 62 62 missense 0.497 possibly damaging 0.58 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes rs556146916 1p33 1 46343576A> C null K T 62 62 2.0E-4 missense 0.617 possibly damaging 0.22 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs911965623 1p33 1 46343585A> T null H L 65 65 missense 0.028 benign 0.07 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs911965623 1p33 1 46343585A> G null H R 65 65 missense 0.0 benign 0.39 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs983876506 1p33 1 46343584C> T null H Y 65 65 missense 0.055 benign 0.04 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1161204961 1p33 1 46343590G> A null G S 67 67 missense 0.076 benign 1.0 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) gnomAD rs1183291358 1p33 1 46343595A> C null R S 68 68 missense 0.003 benign 0.08 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes,TOPMed,gnomAD rs76008820 1p33 1 46343599C> T null Q * 70 70 0.007388 stop gained 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes,gnomAD rs541918905 1p33 1 46343611A> G null K E 74 74 2.0E-4 missense 0.497 possibly damaging 0.02 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1180549930 1p33 1 46343616G> T null R S 75 75 missense 0.0 benign 1.0 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs951215319 1p33 1 46343614A> T null R W 75 75 missense 0.007 benign 0.02 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1456044155 1p33 1 46343623C> G null L V 78 78 missense 0.578 possibly damaging 0.3 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1255492623 1p33 1 46343634T> A null S R 81 81 missense 0.514 possibly damaging 0.13 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes,TOPMed,gnomAD rs7548675 1p33 1 46343649C> G null S R 86 86 0.1318 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1288174264 1p33 1 46343657A> G null Y C 89 89 missense 0.883 possibly damaging 0.18 tolerated - low confidence 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) Ensembl rs866158031 1p33 1 46343659C> T null P S 90 90 missense 0.81 possibly damaging 0.35 tolerated - low confidence 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes rs571959708 1p33 1 46343675G> A null G D 95 95 2.0E-4 missense 0.049 benign 0.89 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed,gnomAD rs912465875 1p33 1 46343677C> T null R W 96 96 missense 0.137 benign 0.03 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs764469774 1p33 1 46343684G> A null S N 98 98 missense 0.393 benign 0.28 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1238111538 1p33 1 46343690C> T null P L 100 100 missense 0.856 possibly damaging 1.0 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) Ensembl rs942738597 1p33 1 46343695C> T null Q * 102 102 stop gained 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1326603791 1p33 1 46343718T> G null S R 109 109 missense 0.514 possibly damaging 0.01 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) gnomAD rs975793198 1p33 1 46343725C> T null P S 112 112 missense 0.81 possibly damaging 0.12 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) gnomAD rs1467893931 1p33 1 46343729A> G null Q R 113 113 missense 0.006 benign 0.39 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes,TOPMed,gnomAD rs7515284 1p33 1 46343747A> G null H R 119 119 0.1318 missense 0.0 benign 0.3 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1402223947 1p33 1 46343746C> T null H Y 119 119 missense 0.0 benign 0.17 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1157608354 1p33 1 46343752G> T null G C 121 121 missense 0.388 benign 0.08 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1437380017 1p33 1 46343755G> A null E K 122 122 missense 0.497 possibly damaging 0.0 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1396392408 1p33 1 46343758A> T null S C 123 123 missense 0.848 possibly damaging 0.05 deleterious 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed,gnomAD rs1041913922 1p33 1 46343759G> T null S I 123 123 missense 0.617 possibly damaging 0.19 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed,gnomAD rs1035122150 1p33 1 46343762C> T null P L 124 124 missense 0.856 possibly damaging 0.19 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed,gnomAD rs1035122150 1p33 1 46343762C> G null P R 124 124 missense 0.908 possibly damaging 0.15 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) 1000Genomes rs564076088 1p33 1 46343766A> T null Q H 125 125 2.0E-4 missense 0.398 benign 0.38 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs896224021 1p33 1 46343777G> T null G V 129 129 missense 0.98 probably damaging 0.05 tolerated 0 A0A087WT36 NSUN4 5-methylcytosine rRNA methyltransferase NSUN4 (Fragment) TOPMed rs1238277556 1p33 1 46343783G> T null G V 131 131 missense 0.98 probably damaging 0.01 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) Ensembl rs202056476 7q11.23 7 75074090C> T null R K 3 3 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) Ensembl rs200633379 7q11.23 7 75074089C> G null R S 3 3 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed rs1414118344 7q11.23 7 75074087T> C null Q R 4 4 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed,gnomAD rs1361131346 7q11.23 7 75074067T> C null S G 11 11 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed,gnomAD rs1277996157 7q11.23 7 75074063G> A null S L 12 12 missense 0.0 unknown 0.01 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes,TOPMed,gnomAD rs587646597 7q11.23 7 75074064A> G null S P 12 12 2.0E-4 missense 0.0 unknown 0.02 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554446704 7q11.23 7 75074054A> G null L P 15 15 missense 0.0 unknown 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) Ensembl rs958203100 7q11.23 7 75074052C> A null E * 16 16 stop gained 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554446702 7q11.23 7 75074043G> T null L M 19 19 missense 0.0 unknown 0.03 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554446697 7q11.23 7 75074031C> G null G R 23 23 missense 0.0 unknown 0.47 tolerated - low confidence 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554446694 7q11.23 7 75074027C> T null S N 24 24 missense 0.0 unknown 0.5 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed,gnomAD rs1032300730 7q11.23 7 75074015C> T null R Q 28 28 missense 0.0 unknown 0.16 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes rs587696368 7q11.23 7 75074006A> G null L P 31 31 3.99E-4 missense 0.774 possibly damaging 0.14 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,TOPMed,gnomAD rs782210124 7q11.23 7 75074001G> C null Q E 33 33 missense 0.0 benign 1.0 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782573049 7q11.23 7 75073994T> A null Q L 35 35 missense 0.025 benign 0.02 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445971 7q11.23 7 75070769T> C null I V 36 36 missense 0.1 benign 0.53 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782230618 7q11.23 7 75070765G> T null S * 37 37 stop gained 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782369320 7q11.23 7 75070766A> G null S P 37 37 missense 0.676 possibly damaging 0.02 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,NCI-TCGA,gnomAD rs781796275 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 7q11.23 7 75070751C> T null G S 42 42 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445961 7q11.23 7 75070747T> C null Y C 43 43 missense 0.972 probably damaging 0.03 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes,ExAC,gnomAD rs587616937 7q11.23 7 75070735A> G null L P 47 47 2.0E-4 missense 0.691 possibly damaging 0.01 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445958 7q11.23 7 75070736G> C null L V 47 47 missense 0.037 benign 0.59 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ESP,ExAC,gnomAD rs376895337 7q11.23 7 75070733G> C null L V 48 48 missense 0.141 benign 0.08 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ESP,ExAC,gnomAD rs141188468 7q11.23 7 75070729G> C null S C 49 49 missense 0.012 benign 0.01 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782092895 7q11.23 7 75070724T> C null K E 51 51 missense 0.015 benign 0.12 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) Ensembl rs921249202 7q11.23 7 75070723T> G null K T 51 51 missense 0.001 benign 0.03 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs781822837 7q11.23 7 75070717G> A null A V 53 53 missense 0.001 benign 0.13 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445949 7q11.23 7 75070714T> C null D G 54 54 missense 0.253 benign 0.01 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445952 7q11.23 7 75070715C> G null D H 54 54 missense 0.808 possibly damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445946 7q11.23 7 75070712C> T null V I 55 55 missense 0.0 benign 0.28 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,NCI-TCGA,gnomAD rs782713125 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75070708G> A null T M 56 56 missense 0.764 possibly damaging 0.12 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782390501 7q11.23 7 75070706T> C null K E 57 57 missense 0.893 possibly damaging 0.02 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782390501 7q11.23 7 75070706T> G null K Q 57 57 missense 0.966 probably damaging 0.11 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed rs1248904076 7q11.23 7 75070702A> G null V A 58 58 missense 0.112 benign 0.04 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs781968660 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 7q11.23 7 75070699C> T null W * 59 59 stop gained 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,TOPMed,gnomAD rs781968660 7q11.23 7 75070699C> G null W S 59 59 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445943 7q11.23 7 75070696C> G null G A 60 60 missense 0.807 possibly damaging 0.03 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,TOPMed,gnomAD rs782343089 7q11.23 7 75070694T> A null M L 61 61 missense 0.018 benign 0.04 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445940 7q11.23 7 75070688G> T null L I 63 63 missense 0.306 benign 0.4 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782206112 7q11.23 7 75070678T> C null D G 66 66 missense 0.779 possibly damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445937 7q11.23 7 75070676A> C null S A 67 67 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445934 7q11.23 7 75070671C> G null Q H 68 68 missense 0.376 benign 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445935 7q11.23 7 75070672T> C null Q R 68 68 missense 0.927 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed,gnomAD rs1471671373 7q11.23 7 75070670G> C null L V 69 69 missense 0.493 possibly damaging 0.04 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed rs1164839977 7q11.23 7 75070662A> T null F L 71 71 missense 0.085 benign 0.08 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445928 7q11.23 7 75070660T> C null H R 72 72 missense 0.355 benign 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed rs1385780100 7q11.23 7 75070653G> C null S R 74 74 missense 0.388 benign 0.42 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs143969297 7q11.23 7 75070652G> C null R G 75 75 missense 0.259 benign 0.04 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs139769780 7q11.23 7 75070651C> T null R Q 75 75 3.99E-4 missense 0.007 benign 0.18 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143969297 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75070652G> A null R W 75 75 missense 0.865 possibly damaging 0.01 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes,NCI-TCGA rs147394495 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 7q11.23 7 75070645T> C null D G 77 77 2.0E-4 missense 0.192 benign 0.36 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445921 7q11.23 7 75070642T> C null K R 78 78 missense 0.007 benign 0.49 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202246429 7q11.23 7 75066792G> T null T K 79 79 3.99E-4 missense 0.007 benign 0.33 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs202246429 7q11.23 7 75066792G> A null T M 79 79 3.99E-4 missense 0.023 benign 0.23 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445207 7q11.23 7 75066788C> A null R S 80 80 missense 0.078 benign 0.14 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs781852104 7q11.23 7 75066787C> A null G C 81 81 missense 0.987 probably damaging 0.04 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,TOPMed,gnomAD rs782335001 7q11.23 7 75066786C> A null G V 81 81 missense 0.964 probably damaging 0.18 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs145547819 7q11.23 7 75066781C> A null E * 83 83 stop gained 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs145547819 7q11.23 7 75066781C> T null E K 83 83 missense 0.307 benign 0.06 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,TOPMed,gnomAD rs782549630 7q11.23 7 75066777T> C null Y C 84 84 missense 0.243 benign 0.02 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed rs1252587597 7q11.23 7 75066771A> C null L W 86 86 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed rs1480648300 7q11.23 7 75066766G> A null P S 88 88 missense 0.927 probably damaging 0.02 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed rs1199541718 7q11.23 7 75066759G> A null P L 90 90 missense 0.867 possibly damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs140417187 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 7q11.23 7 75066757C> T null V I 91 91 missense 0.04 benign 1.0 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs140417187 7q11.23 7 75066757C> G null V L 91 91 missense 0.118 benign 0.01 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445195 7q11.23 7 75066751G> C null L V 93 93 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782731230 7q11.23 7 75066747G> A null P L 94 94 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed rs1426700249 7q11.23 7 75066740G> T null D E 96 96 missense 0.013 benign 0.76 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed,gnomAD rs1422625350 7q11.23 7 75066742C> T null D N 96 96 missense 0.248 benign 0.3 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs587665424 7q11.23 7 75066724G> C null R G 102 102 3.99E-4 missense 0.592 possibly damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372749501 7q11.23 7 75066723C> G null R P 102 102 2.0E-4 missense 0.863 possibly damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372749501 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75066723C> T null R Q 102 102 2.0E-4 missense 0.053 benign 0.2 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs587665424 7q11.23 7 75066724G> A null R W 102 102 3.99E-4 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs897042268 7q11.23 7 75066721C> T null V M 103 103 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,TOPMed,gnomAD rs782739348 7q11.23 7 75066703C> T null G S 109 109 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs782489539 7q11.23 7 75066700G> A null R * 110 110 stop gained 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs782489539 7q11.23 7 75066700G> C null R G 110 110 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445181 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75066699C> T null R Q 110 110 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed,gnomAD rs1005244707 7q11.23 7 75066694G> C null H D 112 112 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed,gnomAD rs1005244707 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 7q11.23 7 75066694G> A null H Y 112 112 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782073863 7q11.23 7 75066691A> C null S A 113 113 missense 0.875 possibly damaging 0.2 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782073863 7q11.23 7 75066691A> G null S P 113 113 missense 0.99 probably damaging 0.1 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782073863 7q11.23 7 75066691A> T null S T 113 113 missense 0.545 possibly damaging 0.94 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445175 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75066684A> G null V A 115 115 missense 0.571 possibly damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554445177 7q11.23 7 75066685C> A null V L 115 115 missense 0.357 benign 0.01 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) 1000Genomes,ExAC,gnomAD rs587710952 7q11.23 7 75066673T> C null R G 119 119 3.99E-4 missense 0.0 benign 0.46 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782306795 7q11.23 7 75066664C> T null V I 122 122 missense 0.037 benign 0.13 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554444851 7q11.23 7 75064641G> T null S R 124 124 missense 0.051 benign 0.04 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554444849 7q11.23 7 75064638C> T null M I 125 125 missense 0.01 benign 0.08 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554444848 7q11.23 7 75064636C> T null G E 126 126 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed rs1415284829 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75064627G> T null S Y 129 129 missense 0.556 possibly damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed rs1368311793 7q11.23 7 75064618T> G null Q P 132 132 missense 0.832 possibly damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,gnomAD rs782698671 7q11.23 7 75064616A> G null C R 133 133 missense 0.556 possibly damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554444842 7q11.23 7 75064613C> T null G R 134 134 missense 0.878 possibly damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554444835 7q11.23 7 75064596T> A null E D 139 139 missense 0.009 benign 0.13 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) ExAC,TOPMed,gnomAD rs781877163 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 7q11.23 7 75064598C> T null E K 139 139 missense 0.121 benign 0.15 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs1554444834 7q11.23 7 75064590T> G null E D 141 141 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed,gnomAD rs1554444832 7q11.23 7 75064587A> C null I M 142 142 missense 0.459 possibly damaging 0.11 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed rs1282521311 7q11.23 7 75064589T> C null I V 142 142 missense 0.001 benign 0.35 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) gnomAD rs886230342 7q11.23 7 75064585T> C null Y C 143 143 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed,gnomAD rs933001887 7q11.23 7 75063329A> G null V A 149 149 missense 0.3 benign 0.01 deleterious 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) TOPMed,gnomAD rs1332895794 7q11.23 7 75063330C> T null V I 149 149 missense 0.007 benign 0.83 tolerated 0 A0A087WT38 RCC1L RCC1-like G exchanging factor-like protein (Fragment) Ensembl rs1563077899 7q11.23 7 75063319C> T null M I 152 152 missense 0.0 benign 1.0 tolerated 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1286736378 20q13.33 20 63737554G> T null G V 2 2 missense 0.68 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1221036716 20q13.33 20 63737559C> T null P S 4 4 missense 0.01 benign 0.11 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs761280393 20q13.33 20 63737565T> G null S A 6 6 missense 0.015 benign 0.52 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs764829537 20q13.33 20 63737569G> A null W * 7 7 stop gained 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs766258581 20q13.33 20 63737575C> T null P L 9 9 missense 0.204 benign 0.27 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs766258581 20q13.33 20 63737575C> G null P R 9 9 missense 0.943 probably damaging 0.02 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs762993258 20q13.33 20 63737574C> T null P S 9 9 missense 0.444 benign 0.03 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs762993258 20q13.33 20 63737574C> A null P T 9 9 missense 0.444 benign 0.02 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1442440285 20q13.33 20 63737590T> C null V A 14 14 missense 0.071 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151138584 20q13.33 20 63737589G> T null V F 14 14 2.0E-4 missense 0.918 probably damaging 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1235894861 20q13.33 20 63737595G> A null G R 16 16 missense 0.971 probably damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1212375094 20q13.33 20 63737600C> A null C * 17 17 stop gained 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1328737595 20q13.33 20 63737601T> C null C R 18 18 missense 0.106 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1375560132 20q13.33 20 63737603C> G null C W 18 18 missense 0.533 possibly damaging 0.05 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1443004729 20q13.33 20 63737602G> A null C Y 18 18 missense 0.026 benign 0.19 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1226816616 20q13.33 20 63737604G> A null A T 19 19 missense 0.081 benign 0.15 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs973531110 20q13.33 20 63737607C> G null L V 20 20 missense 0.974 probably damaging 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs764271403 20q13.33 20 63737611T> C null L P 21 21 missense 0.061 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs757244179 20q13.33 20 63737617C> T null S L 23 23 missense 0.0 benign 0.11 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs778967524 20q13.33 20 63737619C> A null L M 24 24 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs778967524 20q13.33 20 63737619C> G null L V 24 24 missense 0.984 probably damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1237587763 20q13.33 20 63737624G> C null W C 25 25 missense 0.057 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1197018086 20q13.33 20 63737622T> A null W R 25 25 missense 0.845 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs758961506 20q13.33 20 63737625G> A null A T 26 26 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1182347204 20q13.33 20 63737632G> A null C Y 28 28 missense 0.971 probably damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1471682610 20q13.33 20 63737637G> A null A T 30 30 missense 0.389 benign 0.04 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1033961381 20q13.33 20 63737643C> T null R C 32 32 missense 0.011 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1418088340 20q13.33 20 63737644G> A null R H 32 32 missense 0.0 benign 0.49 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1372812557 20q13.33 20 63737647G> T null R M 33 33 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1462658023 20q13.33 20 63737646A> T null R W 33 33 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs747739164 20q13.33 20 63737822C> T null P S 34 34 missense 0.023 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs777384373 20q13.33 20 63737825G> T null E * 35 35 stop gained 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs777384373 20q13.33 20 63737825G> A null E K 35 35 missense 0.084 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 1000Genomes,ExAC,TOPMed,gnomAD rs578216847 20q13.33 20 63737828G> A null D N 36 36 2.0E-4 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1303268751 20q13.33 20 63737829A> T null D V 36 36 missense 0.006 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1259878566 20q13.33 20 63737838C> A null A D 39 39 missense 0.8 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1259878566 20q13.33 20 63737838C> T null A V 39 39 missense 0.207 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1278951051 20q13.33 20 63737840C> G null P A 40 40 missense 0.671 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1486079450 20q13.33 20 63737841C> G null P R 40 40 missense 0.951 probably damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1264906640 20q13.33 20 63737843A> G null R G 41 41 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs771705283 20q13.33 20 63737853C> A null A E 44 44 missense 0.336 benign 0.03 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs759522324 20q13.33 20 63737852G> A null A T 44 44 missense 0.007 benign 0.07 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs771705283 20q13.33 20 63737853C> T null A V 44 44 missense 0.001 benign 0.34 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs775414822 20q13.33 20 63737855C> T null R W 45 45 missense 0.877 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ESP,ExAC,gnomAD rs370278141 20q13.33 20 63737858A> G null R G 46 46 missense 0.031 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs765485708 20q13.33 20 63737862A> G null Q R 47 47 missense 0.654 possibly damaging 0.08 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 Ensembl rs1568807578 20q13.33 20 63737864C> G null R G 48 48 missense 0.058 benign 0.06 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1455678772 20q13.33 20 63737865G> C null R P 48 48 missense 0.0 benign 0.03 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 1000Genomes,TOPMed rs559339736 20q13.33 20 63737868C> T null A V 49 49 3.99E-4 missense 0.099 benign 0.03 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs750482092 20q13.33 20 63737873C> A null L M 51 51 missense 0.865 possibly damaging 0.05 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1327959474 20q13.33 20 63737874T> G null L R 51 51 missense 0.09 benign 0.03 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 1000Genomes,ExAC,TOPMed,gnomAD rs541535547 20q13.33 20 63737878G> C null Q H 52 52 2.0E-4 missense 0.923 probably damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 1000Genomes,ExAC,TOPMed,gnomAD rs572847837 20q13.33 20 63737877A> C null Q P 52 52 2.0E-4 missense 0.019 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs751947812 20q13.33 20 63737886C> A null A E 55 55 missense 0.052 benign 0.09 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs751947812 20q13.33 20 63737886C> T null A V 55 55 missense 0.003 benign 0.49 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs781401062 cosmic curated [Cosmic]: large_intestine cosmic_study:376 20q13.33 20 63737891G> A null A T 57 57 missense 0.0 benign 0.11 tolerated - low confidence 1 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs753142248 20q13.33 20 63737898A> C null E A 59 59 missense 0.112 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1254284819 20q13.33 20 63737899A> C null E D 59 59 missense 0.023 benign 0.09 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ESP,ExAC,TOPMed,gnomAD rs374534157 20q13.33 20 63737901C> T null A V 60 60 missense 0.003 benign 0.16 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1187355793 20q13.33 20 63738012T> C null V A 62 62 missense 0.441 benign 0.05 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1475183501 20q13.33 20 63738011G> A null V I 62 62 missense 0.237 benign 0.09 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1421671594 20q13.33 20 63738014G> T null G * 63 63 stop gained 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1431520701 20q13.33 20 63738015G> C null G A 63 63 missense 0.702 possibly damaging 0.87 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1431520701 20q13.33 20 63738015G> A null G E 63 63 missense 0.844 possibly damaging 0.15 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1421671594 20q13.33 20 63738014G> A null G R 63 63 missense 0.062 benign 0.16 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1171683083 20q13.33 20 63738019C> G null H Q 64 64 missense 0.737 possibly damaging 0.05 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC rs776428251 20q13.33 20 63738021A> G null Q R 65 65 missense 0.158 benign 0.11 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs976046885 20q13.33 20 63738026G> T null A S 67 67 missense 0.211 benign 0.12 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs976046885 20q13.33 20 63738026G> A null A T 67 67 missense 0.02 benign 0.02 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1435081684 20q13.33 20 63738027C> T null A V 67 67 missense 0.483 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1014521646 20q13.33 20 63738029C> T null R * 68 68 stop gained 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs749503657 20q13.33 20 63738030G> C null R P 68 68 missense 0.609 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs749503657 20q13.33 20 63738030G> A null R Q 68 68 missense 0.026 benign 0.03 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 Ensembl rs868266844 20q13.33 20 63738032G> T null A S 69 69 missense 0.32 benign 0.16 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs771221192 20q13.33 20 63738033C> T null A V 69 69 missense 0.629 possibly damaging 0.04 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1410894274 20q13.33 20 63738036C> T null A V 70 70 missense 0.148 benign 0.02 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116144371 20q13.33 20 63738039C> T null P L 71 71 0.009784 missense 0.125 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs774269451 20q13.33 20 63738038C> T null P S 71 71 missense 0.29 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1349283122 20q13.33 20 63738041G> A null G R 72 72 missense 0.181 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1349283122 20q13.33 20 63738041G> C null G R 72 72 missense 0.181 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs776072052 20q13.33 20 63738044C> A null P T 73 73 missense 0.031 benign 0.05 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs761276651 20q13.33 20 63738048C> T null A V 74 74 missense 0.071 benign 0.04 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1428798038 20q13.33 20 63738054A> G null Q R 76 76 missense 0.023 benign 0.09 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1270111811 20q13.33 20 63738060G> A null G D 78 78 missense 0.067 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1270111811 20q13.33 20 63738060G> T null G V 78 78 missense 0.174 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed rs772130906 20q13.33 20 63738185C> T null P L 79 79 missense 0.303 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs868313270 20q13.33 20 63738188C> A null A E 80 80 missense 0.056 benign 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1235898491 20q13.33 20 63738187G> A null A T 80 80 missense 0.023 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs868313270 20q13.33 20 63738188C> T null A V 80 80 missense 0.209 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1394495725 20q13.33 20 63738190G> A null A T 81 81 missense 0.084 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs775769607 20q13.33 20 63738194G> A null C Y 82 82 missense 0.488 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1443347521 20q13.33 20 63738198G> C null Q H 83 83 missense 0.957 probably damaging 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1335736788 20q13.33 20 63738197A> G null Q R 83 83 missense 0.224 benign 0.22 tolerated - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1353981245 20q13.33 20 63738206C> A null S Y 86 86 missense 0.05 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1469789089 20q13.33 20 63738209C> G null P R 87 87 missense 0.651 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1232828989 20q13.33 20 63738208C> T null P S 87 87 missense 0.019 benign 0.01 deleterious - low confidence 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1337021888 20q13.33 20 63738227G> T null G V 93 93 missense 0.858 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs777114203 20q13.33 20 63738230G> A null G D 94 94 missense 0.046 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1205159363 20q13.33 20 63738233T> C null V A 95 95 missense 0.023 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs762190705 20q13.33 20 63738235C> T null Q * 96 96 stop gained 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs765554112 20q13.33 20 63738237G> T null Q H 96 96 missense 0.973 probably damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs765554112 20q13.33 20 63738237G> C null Q H 96 96 missense 0.973 probably damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs762190705 20q13.33 20 63738235C> A null Q K 96 96 missense 0.662 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1186781537 20q13.33 20 63738239G> A null G E 97 97 missense 0.68 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 Ensembl rs924565553 20q13.33 20 63738241C> T null H Y 98 98 missense 0.014 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs750028003 20q13.33 20 63738248G> A null R Q 100 100 missense 0.0 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs758003940 20q13.33 20 63738251C> T null T I 101 101 missense 0.007 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs751105632 20q13.33 20 63738259A> G null S G 104 104 missense 0.007 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs754883646 20q13.33 20 63738260G> A null S N 104 104 missense 0.401 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1440123911 20q13.33 20 63738262C> T null P S 105 105 missense 0.067 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs781055457 20q13.33 20 63738265C> A null L I 106 106 missense 0.548 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs781055457 20q13.33 20 63738265C> G null L V 106 106 missense 0.246 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs755870510 20q13.33 20 63738275C> G null P R 109 109 missense 0.857 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1357641635 20q13.33 20 63738277A> G null T A 110 110 missense 0.0 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1213636546 20q13.33 20 63738281C> T null P L 111 111 missense 0.838 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1225554965 20q13.33 20 63738280C> A null P T 111 111 missense 0.381 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1269616464 20q13.33 20 63738284G> A null G E 112 112 missense 0.484 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1269616464 20q13.33 20 63738284G> T null G V 112 112 missense 0.445 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs113110798 20q13.33 20 63738286G> A null A T 113 113 missense 0.319 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 1000Genomes,ExAC,gnomAD rs549860076 20q13.33 20 63738289G> A null A T 114 114 0.001398 missense 0.05 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1050244088 20q13.33 20 63738290C> T null A V 114 114 missense 0.646 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1484561801 20q13.33 20 63738293C> T null P L 115 115 missense 0.0 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1317761951 20q13.33 20 63738296G> C null G A 116 116 missense 0.042 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs747135218 20q13.33 20 63738295G> T null G C 116 116 missense 0.896 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1443748548 20q13.33 20 63738304G> T null G C 119 119 missense 0.009 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1443748548 20q13.33 20 63738304G> A null G S 119 119 missense 0.103 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs768880761 20q13.33 20 63738310T> A null C S 121 121 missense 0.0 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1046654126 20q13.33 20 63738316C> T null H Y 123 123 missense 0.0 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1375891393 20q13.33 20 63738319C> T null R C 124 124 missense 0.009 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1443724901 20q13.33 20 63738323G> C null R T 125 125 missense 0.0 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1171018260 20q13.33 20 63738328C> T null R C 127 127 missense 0.57 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1427542958 20q13.33 20 63738329G> A null R H 127 127 missense 0.0 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1434456305 20q13.33 20 63738332G> A null W * 128 128 missense 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs897614813 20q13.33 20 63738337C> T null R * 130 130 stop gained 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1404822415 20q13.33 20 63738338G> T null R L 130 130 missense 0.954 probably damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1280870670 20q13.33 20 63738341G> A null G D 131 131 missense 0.989 probably damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ESP,ExAC,TOPMed,gnomAD rs370181827 20q13.33 20 63738340G> A null G S 131 131 missense 0.984 probably damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1317911425 20q13.33 20 63738343C> T null H Y 132 132 missense 0.0 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1327100284 20q13.33 20 63738346C> A null L I 133 133 missense 0.728 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1299711053 20q13.33 20 63738355C> T null R C 136 136 missense 0.003 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1299711053 20q13.33 20 63738355C> G null R G 136 136 missense 0.553 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs773510884 20q13.33 20 63738356G> A null R H 136 136 missense 0.83 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs773510884 20q13.33 20 63738356G> T null R L 136 136 missense 0.3 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs766064783 20q13.33 20 63738361G> T null A S 138 138 missense 0.732 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1280719445 20q13.33 20 63738362C> T null A V 138 138 missense 0.795 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1202933133 20q13.33 20 63738365G> A null G D 139 139 missense 0.984 probably damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1346879112 20q13.33 20 63738364G> C null G R 139 139 missense 0.988 probably damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs751232208 20q13.33 20 63738367G> A null G S 140 140 missense 0.001 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1447056606 20q13.33 20 63738374C> T null S F 142 142 missense 0.003 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1189984250 20q13.33 20 63738376C> G null R G 143 143 missense 0.28 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1250629279 20q13.33 20 63738377G> A null R Q 143 143 missense 0.003 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1189984250 20q13.33 20 63738376C> T null R W 143 143 missense 0.876 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ESP,ExAC,TOPMed,gnomAD rs373042264 20q13.33 20 63738386C> T null P L 146 146 missense 0.007 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs752620750 20q13.33 20 63738396G> T null Q H 149 149 missense 0.154 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs977468123 20q13.33 20 63738400T> C null C R 151 151 missense 0.001 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1011286125 20q13.33 20 63738407G> A null G D 153 153 missense 0.047 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1031751351 20q13.33 20 63738409C> T null R * 154 154 stop gained 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1440008067 20q13.33 20 63738410G> A null R Q 154 154 missense 0.774 possibly damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs756062890 20q13.33 20 63738417C> A null C * 156 156 missense 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs756062890 20q13.33 20 63738417C> G null C W 156 156 missense 0.04 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1236672895 20q13.33 20 63738419C> T null P L 157 157 missense 0.0 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1350886166 20q13.33 20 63738422G> A null R H 158 158 missense 0.0 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 gnomAD rs1210235433 20q13.33 20 63738425C> T null P L 159 159 missense 0.989 probably damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1171440608 20q13.33 20 63738430G> A null A T 161 161 missense 0.32 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1404960208 20q13.33 20 63738437G> A null R K 163 163 missense 0.038 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ESP,ExAC,TOPMed,gnomAD rs377345131 20q13.33 20 63738446C> T null S L 166 166 missense 0.0 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs758625007 20q13.33 20 63738455C> T null P L 169 169 missense 0.993 probably damaging 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,gnomAD rs780375335 20q13.33 20 63738459A> C null R S 170 170 missense 0.006 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 Ensembl rs990139068 20q13.33 20 63738460G> A null A T 171 171 missense 0.026 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1167229042 20q13.33 20 63738466G> C null A P 173 173 missense 0.09 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed rs1475537923 20q13.33 20 63738475G> A null D N 176 176 missense 0.013 benign 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 ExAC,TOPMed,gnomAD rs747267914 20q13.33 20 63738478T> C null * R 177 177 stop lost 0 A0A087WT39 LIME1 Lck-interacting transmembrane adapter 1 TOPMed,gnomAD rs1017667308 20q13.33 20 63738480A> G null * W 177 177 missense 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs867113539 19q13.42 19 54576073T> A null S T 2 2 missense 0.986 probably damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1215626151 19q13.42 19 54576076C> T null L F 3 3 missense 0.037 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs750908758 19q13.42 19 54576077T> A null L H 3 3 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1313868713 19q13.42 19 54576079C> G null P A 4 4 missense 0.662 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1491001822 19q13.42 19 54576083G> A null S N 5 5 missense 0.994 probably damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200605637 cosmic curated [Cosmic]: lung cosmic_study:418 19q13.42 19 54576087C> G null D E 6 6 2.0E-4 missense 0.023 benign 1 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200605637 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 19q13.42 19 54576087C> A null D E 6 6 2.0E-4 missense 0.023 benign 1 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1200934857 19q13.42 19 54576086A> G null D G 6 6 missense 0.014 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs764723529 19q13.42 19 54576088C> G null P A 7 7 missense 0.961 probably damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs764723529 19q13.42 19 54576088C> T null P S 7 7 missense 0.974 probably damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1177432642 19q13.42 19 54576091C> G null L V 8 8 missense 0.914 probably damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs758002350 19q13.42 19 54576096G> T null E D 9 9 missense 0.298 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs752455085 19q13.42 19 54576095A> G null E G 9 9 missense 0.556 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) Ensembl rs1568511583 19q13.42 19 54576097C> T null L F 10 10 missense 0.998 probably damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,gnomAD rs777421492 19q13.42 19 54576098T> G null L R 10 10 missense 0.998 probably damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,gnomAD rs745772776 19q13.42 19 54576101T> C null V A 11 11 missense 0.133 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10408046 19q13.42 19 54576100G> C null V L 11 11 0.01937 missense 0.015 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs10408046 19q13.42 19 54576100G> A null V M 11 11 0.01937 missense 0.066 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1286817344 19q13.42 19 54577465A> G null E G 14 14 missense 0.031 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1443117958 19q13.42 19 54576109G> C null E Q 14 14 missense 0.661 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1340766624 19q13.42 19 54577468C> A null P H 15 15 missense 0.153 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1340766624 19q13.42 19 54577468C> T null P L 15 15 missense 0.001 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1340766624 19q13.42 19 54577468C> G null P R 15 15 missense 0.034 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1214616970 19q13.42 19 54577473A> T null S C 17 17 missense 0.283 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1234617019 19q13.42 19 54577474G> A null S N 17 17 missense 0.001 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1445477943 19q13.42 19 54577475T> G null S R 17 17 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1247333629 19q13.42 19 54577478A> G null I M 18 18 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1399008086 19q13.42 19 54577483C> T null P L 20 20 missense 0.988 probably damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1319690147 19q13.42 19 54577489C> T null P L 22 22 missense 0.003 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1197127895 19q13.42 19 54577491A> G null T A 23 23 missense 0.012 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) Ensembl rs1555779324 19q13.42 19 54577498C> T null A V 25 25 missense 0.001 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs753757448 19q13.42 19 54577501G> A null G E 26 26 missense 0.764 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1472763882 19q13.42 19 54577500G> A null G R 26 26 missense 0.111 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs753757448 19q13.42 19 54577501G> T null G V 26 26 missense 0.878 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs7257319 19q13.42 19 54577510G> A null G D 29 29 0.05631 missense 0.391 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1323866232 19q13.42 19 54577513A> C null H P 30 30 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1195643920 19q13.42 19 54577512C> T null H Y 30 30 missense 0.033 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1402597374 19q13.42 19 54577519A> G null K R 32 32 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,gnomAD rs768732718 19q13.42 19 54577521A> C null T P 33 33 missense 0.184 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1229607565 19q13.42 19 54577524A> G null R G 34 34 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1475722356 19q13.42 19 54577529G> C null E D 35 35 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1271531340 19q13.42 19 54577531A> G null E G 36 36 missense 0.192 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1169698527 19q13.42 19 54577530G> A null E K 36 36 missense 0.135 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1417500308 19q13.42 19 54577533G> C null A P 37 37 missense 0.84 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1349030967 19q13.42 19 54577539T> C null W R 39 39 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1334305547 19q13.42 19 54577543C> T null A V 40 40 missense 0.06 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs898539199 19q13.42 19 54577546C> T null S L 41 41 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1450909210 19q13.42 19 54577549T> C null V A 42 42 missense 0.232 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs748396800 19q13.42 19 54577552G> A null G E 43 43 missense 0.391 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1421400779 19q13.42 19 54577561G> A null C Y 46 46 missense 0.053 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1433529055 19q13.42 19 54577563G> A null D N 47 47 missense 0.003 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1315536857 19q13.42 19 54577580C> A null H Q 52 52 missense 0.184 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs918774379 19q13.42 19 54577579A> G null H R 52 52 missense 0.184 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs550984442 19q13.42 19 54577578C> T null H Y 52 52 7.99E-4 missense 0.25 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs929013631 19q13.42 19 54577587T> C null C R 55 55 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1047476763 19q13.42 19 54577588G> C null C S 55 55 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1047476763 19q13.42 19 54577588G> A null C Y 55 55 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1004730300 19q13.42 19 54577590G> T null A S 56 56 missense 0.053 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1004730300 19q13.42 19 54577590G> A null A T 56 56 missense 0.001 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) Ensembl rs1568515189 19q13.42 19 54577591C> T null A V 56 56 missense 0.079 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1181047158 19q13.42 19 54577594C> T null P L 57 57 missense 0.031 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1355283283 19q13.42 19 54577593C> T null P S 57 57 missense 0.778 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1325321688 19q13.42 19 54577599G> A null E K 59 59 missense 0.198 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs906330161 19q13.42 19 54577603G> C null R T 60 60 missense 0.192 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1035291568 19q13.42 19 54577607C> G null S R 61 61 missense 0.637 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) 1000Genomes,TOPMed rs567769363 19q13.42 19 54577609C> A null T N 62 62 2.0E-4 missense 0.012 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs146167488 19q13.42 19 54577615C> A null A D 64 64 0.01058 missense 0.108 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1447475267 19q13.42 19 54577620G> A null G S 66 66 missense 0.007 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1477531074 19q13.42 19 54577627C> G null A G 68 68 missense 0.007 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1023333054 19q13.42 19 54577626G> T null A S 68 68 missense 0.009 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1023333054 19q13.42 19 54577626G> A null A T 68 68 missense 0.0 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1477531074 19q13.42 19 54577627C> T null A V 68 68 missense 0.005 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs895049763 19q13.42 19 54577629C> A null H N 69 69 missense 0.026 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs895049763 19q13.42 19 54577629C> T null H Y 69 69 missense 0.078 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs111780736 19q13.42 19 54577633C> A null T N 70 70 missense 0.02 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs111780736 19q13.42 19 54577633C> G null T S 70 70 missense 0.01 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1468481506 19q13.42 19 54577636C> T null A V 71 71 missense 0.058 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1402882527 19q13.42 19 54577641C> T null P S 73 73 missense 0.036 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs935557526 19q13.42 19 54577645T> A null V E 74 74 missense 0.006 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1316861688 19q13.42 19 54577644G> A null V M 74 74 missense 0.358 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1398840037 19q13.42 19 54577647C> G null L V 75 75 missense 0.058 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1283408856 19q13.42 19 54577650A> G null T A 76 76 missense 0.106 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1224259371 19q13.42 19 54577651C> T null T I 76 76 missense 0.542 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1350791095 19q13.42 19 54577653T> C null W R 77 77 missense 0.979 probably damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) gnomAD rs1230633719 19q13.42 19 54577657G> A null R K 78 78 missense 0.014 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1307970939 19q13.42 19 54577658G> T null R S 78 78 missense 0.017 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1255132589 19q13.42 19 54577659C> G null P A 79 79 missense 0.315 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs912748346 19q13.42 19 54577660C> T null P L 79 79 missense 0.012 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1255132589 19q13.42 19 54577659C> T null P S 79 79 missense 0.595 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1351152627 19q13.42 19 54577672G> A null G E 83 83 missense 0.795 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1010842092 19q13.42 19 54577671G> A null G R 83 83 missense 0.839 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1010842092 19q13.42 19 54577671G> C null G R 83 83 missense 0.839 possibly damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1010842092 19q13.42 19 54577671G> T null G W 83 83 missense 0.967 probably damaging 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1022519764 19q13.42 19 54577674C> A null H N 84 84 missense 0.192 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed,gnomAD rs1022519764 19q13.42 19 54577674C> T null H Y 84 84 missense 0.192 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) 1000Genomes,ExAC,gnomAD rs567021295 19q13.42 19 54577678C> G null P R 85 85 2.0E-4 missense 0.034 benign 0 A0A087WT41 LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 (Fragment) TOPMed rs1358683716 19q13.42 19 54577677C> T null P S 85 85 missense 0.005 benign 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1277721897 9q33.3 9 127399974T> C null V A 2 2 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1267211557 9q33.3 9 127399973G> T null V F 2 2 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs370031428 9q33.3 9 127399976G> A null V I 3 3 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1198916167 9q33.3 9 127399980T> G null V G 4 4 missense 0.09 benign 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374408636 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 9q33.3 9 127399979G> A null V I 4 4 missense 0.003 benign 0.88 tolerated 1 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs759284880 9q33.3 9 127399982G> C null G R 5 5 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs759284880 9q33.3 9 127399982G> A null G S 5 5 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs887644744 9q33.3 9 127399985A> C null I L 6 6 missense 0.996 probably damaging 0.05 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs765024134 9q33.3 9 127399988C> T null L F 7 7 missense 0.98 probably damaging 0.06 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs765024134 9q33.3 9 127399988C> A null L I 7 7 missense 0.824 possibly damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1329123275 9q33.3 9 127399999C> A null Y * 10 10 stop gained 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1160443494 9q33.3 9 127399998A> G null Y C 10 10 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1429021542 9q33.3 9 127400001T> G null L R 11 11 missense 0.603 possibly damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1410409153 9q33.3 9 127402557G> A null G D 13 13 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1412379596 9q33.3 9 127402566T> C null L P 16 16 missense 0.092 benign 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs368577788 9q33.3 9 127402575G> A null R H 19 19 missense 0.007 benign 0.06 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1468728142 9q33.3 9 127402578G> A null W * 20 20 stop gained 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs1564216576 9q33.3 9 127402579G> C null W C 20 20 missense 0.976 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs915814395 9q33.3 9 127402577T> C null W R 20 20 missense 0.139 benign 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1344376336 9q33.3 9 127402587T> C null V A 23 23 missense 0.282 benign 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs1564216602 9q33.3 9 127402586G> C null V L 23 23 missense 0.189 benign 0.22 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1212004723 9q33.3 9 127402590T> C null L P 24 24 missense 0.95 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1291726730 9q33.3 9 127402593G> A null G D 25 25 missense 0.901 possibly damaging 0.04 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs761757532 9q33.3 9 127402598G> A null V M 27 27 missense 0.059 benign 0.15 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1268492068 9q33.3 9 127402602C> A null P H 28 28 missense 0.973 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1045515156 9q33.3 9 127402605C> T null P L 29 29 missense 0.873 possibly damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs142057202 9q33.3 9 127402604C> T null P S 29 29 missense 0.82 possibly damaging 0.18 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs62637572 9q33.3 9 127402608C> T null S F 30 30 missense 0.003 benign 0.11 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs999579784 9q33.3 9 127402610C> T null L F 31 31 missense 0.007 benign 0.35 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1373592054 9q33.3 9 127402611T> C null L P 31 31 missense 0.757 possibly damaging 0.02 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1327523068 9q33.3 9 127402615G> A null M I 32 32 missense 0.714 possibly damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1162305933 9q33.3 9 127402613A> T null M L 32 32 missense 0.08 benign 0.29 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1052946409 9q33.3 9 127402614T> G null M R 32 32 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1052946409 9q33.3 9 127402614T> C null M T 32 32 missense 0.934 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs780193611 9q33.3 9 127402627G> A null M I 36 36 missense 0.995 probably damaging 0.05 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs756348925 9q33.3 9 127402626T> C null M T 36 36 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs893842358 9q33.3 9 127402625A> G null M V 36 36 missense 0.992 probably damaging 0.07 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs754200885 9q33.3 9 127402628T> G null C G 37 37 missense 0.0 benign 0.05 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs755259322 9q33.3 9 127402631T> C null F L 38 38 missense 0.185 benign 0.18 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1329017283 9q33.3 9 127402632T> C null F S 38 38 missense 0.406 benign 0.06 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs772710053 9q33.3 9 127402642G> C null E D 41 41 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs748609075 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q33.3 9 127402640G> A null E K 41 41 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs748609075 9q33.3 9 127402640G> C null E Q 41 41 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs1011312895 9q33.3 9 127402643A> G null T A 42 42 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs562957428 9q33.3 9 127402644C> T null T I 42 42 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs562957428 9q33.3 9 127402644C> A null T N 42 42 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs1011312895 9q33.3 9 127402643A> C null T P 42 42 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372901354 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 9q33.3 9 127402647C> T null P L 43 43 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs774142933 9q33.3 9 127402649C> T null R C 44 44 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs144114324 9q33.3 9 127402650G> A null R H 44 44 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs767502854 9q33.3 9 127402658C> A null L M 47 47 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs750484202 9q33.3 9 127402661A> G null T A 48 48 missense 0.0 benign 0.65 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1290500146 9q33.3 9 127402672G> C null R S 51 51 missense 0.122 benign 0.02 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1214795062 9q33.3 9 127402670A> T null R W 51 51 missense 0.796 possibly damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs766512214 9q33.3 9 127402673C> T null R C 52 52 missense 0.015 benign 0.05 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs753957668 9q33.3 9 127402674G> A null R H 52 52 missense 0.007 benign 0.23 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs753957668 9q33.3 9 127402674G> T null R L 52 52 missense 0.011 benign 0.05 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs766512214 9q33.3 9 127402673C> A null R S 52 52 missense 0.206 benign 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1391122448 9q33.3 9 127402681G> C null E D 54 54 missense 0.999 probably damaging 0.14 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs753177819 9q33.3 9 127402682G> A null A T 55 55 missense 0.467 possibly damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs758958613 9q33.3 9 127402685A> T null M L 56 56 missense 0.003 benign 0.79 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs778472318 9q33.3 9 127402686T> C null M T 56 56 missense 0.215 benign 0.23 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs758958613 9q33.3 9 127402685A> G null M V 56 56 missense 0.005 benign 1.0 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs769142051 9q33.3 9 127402689C> A null A D 57 57 missense 0.038 benign 0.32 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs745349554 9q33.3 9 127402688G> A null A T 57 57 missense 0.446 possibly damaging 0.22 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs769142051 9q33.3 9 127402689C> T null A V 57 57 missense 0.614 possibly damaging 0.09 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs748831252 9q33.3 9 127402691G> A null A T 58 58 missense 0.544 possibly damaging 0.1 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs571624823 9q33.3 9 127402697C> G null R G 60 60 2.0E-4 missense 0.458 possibly damaging 0.05 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs774122472 9q33.3 9 127402698G> A null R Q 60 60 missense 0.017 benign 0.65 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs571624823 NCI-TCGA Cosmic [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 9q33.3 9 127402697C> T null R W 60 60 2.0E-4 missense 0.863 possibly damaging 0.01 deleterious 1 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs747990536 9q33.3 9 127402700T> C null F L 61 61 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,gnomAD rs578108884 9q33.3 9 127402707G> C null W S 63 63 3.99E-4 missense 0.079 benign 0.18 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs191868016 9q33.3 9 127402715G> A null E K 66 66 2.0E-4 missense 0.129 benign 0.07 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs191868016 9q33.3 9 127402715G> C null E Q 66 66 2.0E-4 missense 0.059 benign 0.09 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1471534377 9q33.3 9 127402720G> C null Q H 67 67 missense 0.001 benign 0.76 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1161172440 9q33.3 9 127402721G> A null G S 68 68 missense 0.003 benign 0.24 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1458012761 9q33.3 9 127402724T> C null W R 69 69 missense 0.211 benign 0.1 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1450302048 9q33.3 9 127402732C> A null D E 71 71 missense 0.001 benign 1.0 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1450302048 9q33.3 9 127402732C> G null D E 71 71 missense 0.001 benign 1.0 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs766314893 9q33.3 9 127402730G> A null D N 71 71 missense 0.109 benign 0.34 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs994823825 9q33.3 9 127402733C> G null P A 72 72 missense 0.013 benign 0.71 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs994823825 9q33.3 9 127402733C> A null P T 72 72 missense 0.05 benign 0.18 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs776778724 9q33.3 9 127402737C> T null P L 73 73 missense 0.268 benign 0.68 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs776778724 9q33.3 9 127402737C> G null P R 73 73 missense 0.028 benign 0.39 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c dbSNP rs199808560 9q33.3 9 127402738du p null I null 74 74 frameshift 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs772175308 9q33.3 9 127402741C> G null I M 74 74 missense 0.674 possibly damaging 0.13 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs753089764 9q33.3 9 127402742G> A null G R 75 75 missense 0.007 benign 0.44 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1290639709 9q33.3 9 127402745G> A null A T 76 76 missense 0.186 benign 0.37 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1330214378 9q33.3 9 127402749A> G null E G 77 77 missense 0.122 benign 0.15 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs758873723 9q33.3 9 127402751C> T null Q * 78 78 stop gained 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1196553594 9q33.3 9 127403661G> C null S T 79 79 missense 0.143 benign 0.07 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs140979737 9q33.3 9 127403666C> T null H Y 81 81 missense 0.007 benign 0.29 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs763286394 9q33.3 9 127403670T> C null L P 82 82 missense 0.959 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1356779697 9q33.3 9 127403672G> A null A T 83 83 missense 0.015 benign 0.08 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs757695339 9q33.3 9 127403679T> C null L P 85 85 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1351964980 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary cosmic_study:331 9q33.3 9 127403682G> A null R Q 86 86 missense 0.811 possibly damaging 0.04 deleterious 1 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs767054400 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q33.3 9 127403681C> T null R W 86 86 missense 0.989 probably damaging 0.02 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs149746079 9q33.3 9 127403690G> T null G C 89 89 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs149746079 9q33.3 9 127403690G> C null G R 89 89 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs149746079 9q33.3 9 127403690G> A null G S 89 89 missense 0.503 possibly damaging 0.62 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1184430139 9q33.3 9 127403695C> G null I M 90 90 missense 0.819 possibly damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,TOPMed,dbSNP,gnomAD rs34064803 9q33.3 9 127403694T> C null I T 90 90 0.04533 missense 0.403 benign 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs746878139 9q33.3 9 127403699A> G null K E 92 92 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes rs530044491 9q33.3 9 127403703C> T null P L 93 93 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs770750359 9q33.3 9 127403711A> G null I V 96 96 missense 0.203 benign 0.08 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs143227232 9q33.3 9 127403714G> C null G R 97 97 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs143227232 9q33.3 9 127403714G> A null G S 97 97 missense 1.0 probably damaging 0.3 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs775722331 9q33.3 9 127403717G> A null V I 98 98 missense 0.026 benign 1.0 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs768986211 9q33.3 9 127403721C> T null S F 99 99 missense 0.006 benign 0.65 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs141664484 9q33.3 9 127403723C> A null L M 100 100 missense 0.899 possibly damaging 0.1 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1360628033 9q33.3 9 127403724T> C null L P 100 100 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1162003726 9q33.3 9 127403728G> A null M I 101 101 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs985665714 9q33.3 9 127403732T> C null F L 103 103 missense 0.229 benign 0.07 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1462302513 9q33.3 9 127403735C> T null Q * 104 104 stop gained 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41276194 9q33.3 9 127403738C> T null Q * 105 105 7.99E-4 stop gained 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs138481743 cosmic curated [Cosmic]: urinary_tract pubmed:24121792,cosmic_study:557,cosmic_study:581 9q33.3 9 127403745C> T null S L 107 107 2.0E-4 missense 0.91 probably damaging 0.0 deleterious 1 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs758034004 9q33.3 9 127403751T> C null V A 109 109 missense 0.243 benign 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143952990 9q33.3 9 127403756G> A null A T 111 111 3.99E-4 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs192215268 9q33.3 9 127403759G> T null V F 112 112 2.0E-4 missense 0.677 possibly damaging 0.06 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs192215268 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q33.3 9 127403759G> A null V I 112 112 2.0E-4 missense 0.007 benign 0.58 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs780273201 9q33.3 9 127403763T> A null M K 113 113 missense 0.963 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs780273201 9q33.3 9 127403763T> C null M T 113 113 missense 0.915 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1210788148 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q33.3 9 127403766T> A null F Y 114 114 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs202091795 9q33.3 9 127403776G> T null E D 117 117 missense 0.059 benign 0.13 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1185432793 9q33.3 9 127403775A> G null E G 117 117 missense 0.639 possibly damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs768731272 9q33.3 9 127403774G> A null E K 117 117 missense 0.639 possibly damaging 0.03 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs768731272 9q33.3 9 127403774G> C null E Q 117 117 missense 0.85 possibly damaging 0.09 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1322761723 9q33.3 9 127403777A> G null T A 118 118 missense 0.33 benign 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1475813280 9q33.3 9 127403778C> A null T N 118 118 missense 0.061 benign 0.12 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs373167724 9q33.3 9 127403786G> A null E K 121 121 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed rs766932148 9q33.3 9 127403797G> T null K N 124 124 missense 0.03 benign 1.0 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs761168529 9q33.3 9 127403796A> C null K T 124 124 missense 0.725 possibly damaging 0.32 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1052868772 9q33.3 9 127403800C> G null F L 125 125 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs961702139 9q33.3 9 127403964C> G null S R 128 128 missense 0.33 benign 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1348719319 9q33.3 9 127403965A> G null S G 129 129 missense 0.011 benign 0.15 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1263634479 9q33.3 9 127403967C> A null S R 129 129 missense 0.031 benign 0.33 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs750215303 9q33.3 9 127403972C> A null A D 131 131 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs755936575 9q33.3 9 127403975C> T null S L 132 132 missense 0.85 possibly damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1276593092 9q33.3 9 127403977G> A null V I 133 133 missense 0.043 benign 0.11 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs753755259 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 9q33.3 9 127403980G> A null V I 134 134 missense 0.003 benign 1.0 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs201254853 9q33.3 9 127403983G> A null V M 135 135 missense 0.718 possibly damaging 0.06 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,gnomAD rs377570972 9q33.3 9 127403987G> A null G D 136 136 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs748236288 9q33.3 9 127403986G> A null G S 136 136 missense 0.984 probably damaging 0.02 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1372397611 9q33.3 9 127403995C> G null Q E 139 139 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1292768894 9q33.3 9 127404001C> A null L M 141 141 missense 0.9 possibly damaging 0.05 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1388247956 9q33.3 9 127404013G> A null V M 145 145 missense 0.081 benign 0.05 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150703954 9q33.3 9 127404017C> T null A V 146 146 7.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs541474458 9q33.3 9 127404019G> T null A S 147 147 2.0E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1205798294 9q33.3 9 127404026T> C null I T 149 149 missense 0.401 benign 0.02 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1309853478 9q33.3 9 127404025A> G null I V 149 149 missense 0.014 benign 0.41 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1487721618 9q33.3 9 127404030G> T null M I 150 150 missense 0.07 benign 0.36 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1487721618 9q33.3 9 127404030G> A null M I 150 150 missense 0.07 benign 0.36 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs776994267 9q33.3 9 127404028A> T null M L 150 150 missense 0.223 benign 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs776994267 9q33.3 9 127404028A> G null M V 150 150 missense 0.145 benign 0.23 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1281229843 9q33.3 9 127404035G> A null R K 152 152 missense 0.08 benign 0.99 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1325776185 9q33.3 9 127404037G> A null A T 153 153 missense 0.265 benign 0.24 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs761276028 9q33.3 9 127404044G> A null R Q 155 155 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370827176 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q33.3 9 127404043C> T null R W 155 155 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1186198192 9q33.3 9 127404052C> T null L F 158 158 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs772953895 9q33.3 9 127404056T> C null L P 159 159 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1429103683 9q33.3 9 127404058G> A null V I 160 160 missense 0.0 benign 1.0 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs760419913 9q33.3 9 127404063G> T null L F 161 161 missense 0.815 possibly damaging 0.02 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1459250615 9q33.3 9 127404065C> A null S * 162 162 stop gained 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs766213563 9q33.3 9 127404064T> G null S A 162 162 missense 0.996 probably damaging 0.22 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1344206386 9q33.3 9 127404821T> G null V G 164 164 missense 0.65 possibly damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1225398464 9q33.3 9 127404820G> A null V M 164 164 missense 0.083 benign 0.09 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs745441442 9q33.3 9 127404823G> C null V L 165 165 missense 0.076 benign 0.22 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs905026116 9q33.3 9 127404827T> C null M T 166 166 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs1554745420 9q33.3 9 127404830T> C null V A 167 167 missense 0.022 benign 1.0 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1252038570 9q33.3 9 127404836G> T null S I 169 169 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs775252358 9q33.3 9 127404838A> G null T A 170 170 missense 0.011 benign 0.16 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs749130065 9q33.3 9 127404839C> G null T R 170 170 missense 0.035 benign 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs767430691 9q33.3 9 127404850G> C null G R 174 174 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs767430691 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:21642962,cosmic_study:340 9q33.3 9 127404850G> A null G S 174 174 missense 0.975 probably damaging 0.01 deleterious 1 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs766677676 9q33.3 9 127404853G> A null A T 175 175 missense 0.001 benign 0.54 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs755357612 9q33.3 9 127404863A> C null K T 178 178 missense 0.978 probably damaging 0.04 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs200337040 9q33.3 9 127404880C> T null P S 184 184 missense 0.031 benign 0.24 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs753194272 9q33.3 9 127404889T> G null S A 187 187 missense 0.264 benign 0.08 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs758945411 9q33.3 9 127404890C> G null S C 187 187 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs745437581 9q33.3 9 127404893C> T null S L 188 188 missense 0.835 possibly damaging 0.04 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs778247708 9q33.3 9 127404898G> A null V M 190 190 missense 0.039 benign 0.27 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs987252245 9q33.3 9 127404901G> A null A T 191 191 missense 0.024 benign 0.32 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1172108724 9q33.3 9 127404902C> T null A V 191 191 missense 0.038 benign 0.22 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,NCI-TCGA,TOPMed,gnomAD rs768388435 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: cervix cosmic_study:415,cosmic_study:435 9q33.3 9 127404908C> T null S L 193 193 missense 0.0 benign 0.91 tolerated 1 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,NCI-TCGA,gnomAD rs748032046 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q33.3 9 127404911C> T null A V 194 194 missense 0.005 benign 0.61 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs760853342 9q33.3 9 127404919T> G null S A 197 197 missense 0.0 benign 0.3 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs771168748 9q33.3 9 127404920C> T null S F 197 197 missense 0.141 benign 0.02 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs776946567 9q33.3 9 127404923C> T null A V 198 198 missense 0.001 benign 0.29 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,TOPMed,gnomAD rs369824077 9q33.3 9 127404925C> T null Q * 199 199 stop gained 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,TOPMed,gnomAD rs369824077 9q33.3 9 127404925C> G null Q E 199 199 missense 0.0 benign 1.0 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,TOPMed,gnomAD rs369824077 9q33.3 9 127404925C> A null Q K 199 199 missense 0.015 benign 0.51 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1395364168 9q33.3 9 127404931G> A null V I 201 201 missense 0.003 benign 0.31 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1362431277 9q33.3 9 127404938C> T null A V 203 203 missense 0.007 benign 0.24 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs138943276 9q33.3 9 127404943G> C null V L 205 205 missense 0.007 benign 0.66 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs138943276 9q33.3 9 127404943G> T null V L 205 205 missense 0.007 benign 0.66 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs138943276 9q33.3 9 127404943G> A null V M 205 205 missense 0.273 benign 0.23 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs749869475 9q33.3 9 127404949C> A null L M 207 207 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs755609903 9q33.3 9 127404950T> C null L P 207 207 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs779560248 9q33.3 9 127404953C> T null A V 208 208 missense 0.743 possibly damaging 0.02 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1365434326 9q33.3 9 127404955T> A null W R 209 209 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1445381631 9q33.3 9 127404965T> C null V A 212 212 missense 0.858 possibly damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149251951 9q33.3 9 127404964G> A null V M 212 212 0.001198 missense 0.971 probably damaging 0.09 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201395512 9q33.3 9 127404968G> A null G D 213 213 3.99E-4 missense 0.856 possibly damaging 0.3 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1460143974 9q33.3 9 127404977G> T null C F 216 216 missense 0.019 benign 0.47 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1262656262 9q33.3 9 127404979C> T null L F 217 217 missense 0.031 benign 0.21 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs748024892 9q33.3 9 127404982T> C null F L 218 218 missense 0.654 possibly damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1420448516 9q33.3 9 127404985A> T null I F 219 219 missense 0.934 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1420448516 9q33.3 9 127404985A> G null I V 219 219 missense 0.214 benign 0.23 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs777730566 9q33.3 9 127404988G> A null A T 220 220 missense 0.06 benign 0.3 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199981418 9q33.3 9 127405420G> C null G A 221 221 2.0E-4 missense 1.0 probably damaging 0.14 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199981418 9q33.3 9 127405420G> A null G D 221 221 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144052107 9q33.3 9 127404991G> A null G S 221 221 3.99E-4 missense 1.0 probably damaging 0.08 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs749492602 9q33.3 9 127405425G> T null A S 223 223 missense 0.573 possibly damaging 0.34 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs200900591 cosmic curated [Cosmic]: prostate, [Cosmic]: ovary cosmic_study:435,cosmic_study:585 9q33.3 9 127405426C> T null A V 223 223 missense 0.976 probably damaging 0.0 deleterious 1 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs768063001 9q33.3 9 127405436G> C null W C 226 226 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs776088843 9q33.3 9 127405438G> A null G E 227 227 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,gnomAD rs371669600 9q33.3 9 127405441C> T null P L 228 228 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs764679834 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q33.3 9 127405447C> T null P L 230 230 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs764679834 9q33.3 9 127405447C> G null P R 230 230 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1317689044 9q33.3 9 127405450G> T null W L 231 231 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs757993968 9q33.3 9 127405453T> C null L P 232 232 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs1564220109 9q33.3 9 127405455C> G null L V 233 233 missense 0.033 benign 1.0 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs560931328 9q33.3 9 127405460G> A null M I 234 234 missense 0.995 probably damaging 0.1 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs751366166 9q33.3 9 127405459T> A null M K 234 234 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC rs145955235 9q33.3 9 127405462C> T null S L 235 235 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs917779007 9q33.3 9 127405464G> C null E Q 236 236 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs113675495 9q33.3 9 127405470T> C null F L 238 238 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79364852 9q33.3 9 127405491G> C null V L 245 245 0.001198 missense 0.005 benign 0.27 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79364852 9q33.3 9 127405491G> A null V M 245 245 0.001198 missense 0.02 benign 0.15 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs756213563 9q33.3 9 127405494G> T null A S 246 246 missense 0.713 possibly damaging 0.19 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs756213563 9q33.3 9 127405494G> A null A T 246 246 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201507777 9q33.3 9 127405495C> T null A V 246 246 3.99E-4 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1290705872 9q33.3 9 127405497A> G null T A 247 247 missense 0.261 benign 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115668237 9q33.3 9 127405508C> G null C W 250 250 0.004992 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1429316520 9q33.3 9 127405507G> A null C Y 250 250 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,TOPMed,gnomAD rs201045999 9q33.3 9 127405509G> T null V F 251 251 0.003594 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201045999 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q33.3 9 127405509G> A null V I 251 251 0.003594 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs761187070 9q33.3 9 127405519A> G null N S 254 254 missense 0.625 possibly damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs765116162 9q33.3 9 127405522G> A null W * 255 255 stop gained 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140385904 9q33.3 9 127405521T> C null W R 255 255 5.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs774926576 9q33.3 9 127405528T> C null M T 257 257 missense 0.702 possibly damaging 0.09 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs979233222 9q33.3 9 127405527A> G null M V 257 257 missense 0.366 benign 0.09 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1187738738 9q33.3 9 127405530G> A null A T 258 258 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs762650882 9q33.3 9 127405536C> T null L F 260 260 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1328066380 9q33.3 9 127405540T> C null V A 261 261 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147882717 9q33.3 9 127405539G> A null V M 261 261 5.99E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1371841354 9q33.3 9 127405542A> G null T A 262 262 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1294062128 9q33.3 9 127405548G> A null E K 264 264 missense 0.87 possibly damaging 0.02 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs910593700 9q33.3 9 127405552T> G null F C 265 265 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs1382765723 9q33.3 9 127405558G> A null S N 267 267 missense 0.007 benign 0.72 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs767442036 9q33.3 9 127405560C> G null L V 268 268 missense 0.013 benign 0.08 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1305558114 9q33.3 9 127407112G> A null E K 270 270 missense 0.161 benign 0.59 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1206283825 9q33.3 9 127407115G> T null V F 271 271 missense 0.003 benign 0.86 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1203621988 9q33.3 9 127407121A> G null R G 273 273 missense 0.001 benign 0.16 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs781629382 9q33.3 9 127407128A> G null Y C 275 275 missense 0.051 benign 0.12 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1193135295 9q33.3 9 127407134C> A null A D 277 277 missense 0.584 possibly damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1193135295 9q33.3 9 127407134C> G null A G 277 277 missense 0.326 benign 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP,ExAC,TOPMed,gnomAD rs141495979 9q33.3 9 127407133G> A null A T 277 277 missense 0.007 benign 1.0 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs756749396 9q33.3 9 127407136T> A null F I 278 278 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs778551956 9q33.3 9 127407138C> A null F L 278 278 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs778551956 9q33.3 9 127407138C> G null F L 278 278 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs747702800 9q33.3 9 127407142C> T null L F 280 280 missense 0.99 probably damaging 0.34 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs771741018 9q33.3 9 127407148T> G null S A 282 282 missense 0.007 benign 0.45 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs958185406 9q33.3 9 127407149C> T null S F 282 282 missense 0.835 possibly damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs746688252 9q33.3 9 127407151G> T null A S 283 283 missense 0.175 benign 0.23 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs746688252 9q33.3 9 127407151G> A null A T 283 283 missense 0.062 benign 0.05 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs770568806 9q33.3 9 127407152C> T null A V 283 283 missense 0.418 benign 0.14 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs776557785 9q33.3 9 127407161T> C null I T 286 286 missense 0.119 benign 0.1 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1018020605 9q33.3 9 127407163T> G null F V 287 287 missense 0.001 benign 0.13 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs759381714 9q33.3 9 127407173T> C null L P 290 290 missense 0.949 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1337353166 9q33.3 9 127407178A> G null T A 292 292 missense 0.475 possibly damaging 0.03 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ESP rs375590074 9q33.3 9 127407179C> T null T I 292 292 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1337353166 9q33.3 9 127407178A> T null T S 292 292 missense 0.913 probably damaging 0.03 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs143255917 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q33.3 9 127407186C> A null F L 294 294 0.003594 missense 0.006 benign 0.21 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1273410068 9q33.3 9 127407188G> A null C Y 295 295 missense 0.003 benign 0.8 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs775514496 9q33.3 9 127407193C> T null P S 297 297 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs762975784 9q33.3 9 127407199A> C null T P 299 299 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1428453380 9q33.3 9 127407203A> T null K I 300 300 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs764177908 9q33.3 9 127407205G> T null G * 301 301 stop gained 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1242100248 9q33.3 9 127407210G> T null K N 302 302 missense 0.812 possibly damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c Ensembl rs756363268 9q33.3 9 127407209A> G null K R 302 302 missense 0.037 benign 0.27 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1235827100 9q33.3 9 127407217G> A null E K 305 305 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c gnomAD rs1188697098 9q33.3 9 127407220C> T null Q * 306 306 stop gained 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1461206142 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 9q33.3 9 127407229G> A null A T 309 309 missense 0.999 probably damaging 0.07 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1442913288 9q33.3 9 127407232C> T null H Y 310 310 missense 0.057 benign 0.88 tolerated 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1280525476 9q33.3 9 127407236T> C null F S 311 311 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs751673397 9q33.3 9 127407242G> A null G E 313 313 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed rs1217227532 9q33.3 9 127407241G> A null G R 313 313 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c TOPMed,gnomAD rs1396148351 9q33.3 9 127407244C> T null R * 314 314 stop gained 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,TOPMed,gnomAD rs757505475 9q33.3 9 127407245G> A null R Q 314 314 missense 0.005 benign 0.0 deleterious 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs750856316 9q33.3 9 127407249A> C null * C 315 315 stop lost 0 A0A087WT42 SLC2A8 Solute carrier family 2, (Facilitated glucose transporter) member 8, isoform CRA_c ExAC,gnomAD rs767767636 9q33.3 9 127407247T> C null * R 315 315 stop lost 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1276727715 16p13.3 16 4496150A> T null E V 2 2 missense 0.014 benign 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1401608503 16p13.3 16 4496155C> T null R C 4 4 missense 0.0 benign 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,TOPMed,gnomAD rs565221201 16p13.3 16 4496156G> A null R H 4 4 0.001198 missense 0.068 benign 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,TOPMed,gnomAD rs565221201 16p13.3 16 4496156G> T null R L 4 4 0.001198 missense 0.003 benign 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs998454474 16p13.3 16 4496161G> A null V I 6 6 missense 0.01 benign 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1465248495 16p13.3 16 4496180A> G null Q R 12 12 missense 0.0 benign 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1173362333 16p13.3 16 4496188A> G null S G 15 15 missense 0.0 benign 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1053017557 16p13.3 16 4496209C> T null H Y 22 22 missense 0.021 benign 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1488533535 16p13.3 16 4496213T> C null L P 23 23 missense 0.102 benign 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1196372576 16p13.3 16 4496219G> C null G A 25 25 missense 0.03 benign 0.15 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1029919213 16p13.3 16 4496224A> G null R G 27 27 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs916927520 16p13.3 16 4496227G> C null D H 28 28 missense 0.934 probably damaging 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,TOPMed,gnomAD rs138917406 16p13.3 16 4496231C> G null S C 29 29 0.002396 missense 0.843 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1209782330 16p13.3 16 4496240C> T null S L 32 32 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs766944355 16p13.3 16 4496246C> T null S F 34 34 missense 0.071 benign 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1004204854 16p13.3 16 4496249G> C null C S 35 35 missense 0.0 benign 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs567351396 16p13.3 16 4496255C> G null A G 37 37 missense 0.031 benign 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,TOPMed rs541042043 16p13.3 16 4496258G> A null G E 38 38 2.0E-4 missense 0.969 probably damaging 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs747653688 16p13.3 16 4505484G> A null G E 41 41 missense 0.063 benign 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1321273390 16p13.3 16 4505486C> G null P A 42 42 missense 0.059 benign 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs769408204 16p13.3 16 4505495C> T null R * 45 45 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs773304208 16p13.3 16 4505496G> C null R P 45 45 missense 0.024 benign 0.02 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs773304208 16p13.3 16 4505496G> A null R Q 45 45 missense 0.01 benign 0.02 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1373721611 16p13.3 16 4505504C> G null Q E 48 48 missense 0.005 benign 0.02 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs770750358 16p13.3 16 4505505A> C null Q P 48 48 missense 0.259 benign 0.02 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1262668721 16p13.3 16 4505507G> C null E Q 49 49 missense 0.17 benign 0.01 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs766284992 16p13.3 16 4505510C> G null P A 50 50 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs766284992 16p13.3 16 4505510C> T null P S 50 50 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs766284992 16p13.3 16 4505510C> A null P T 50 50 missense 0.04 benign 0.01 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17884406 16p13.3 16 4505520C> G null A G 53 53 0.002596 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs17884406 16p13.3 16 4505520C> T null A V 53 53 0.002596 missense 0.202 benign 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,TOPMed,gnomAD rs371950997 16p13.3 16 4505525A> G null M V 55 55 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs374799990 16p13.3 16 4505529C> T null S L 56 56 missense 0.036 benign 0.01 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,gnomAD rs371753087 16p13.3 16 4505531G> T null A S 57 57 missense 0.02 benign 0.49 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs148822872 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4505532C> T null A V 57 57 missense 0.013 benign 0.07 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1299464840 16p13.3 16 4505534G> A null E K 58 58 missense 0.693 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs757692612 16p13.3 16 4505537G> T null V L 59 59 missense 0.007 benign 0.31 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs746276112 16p13.3 16 4505551G> C null E D 63 63 missense 0.101 benign 0.04 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs747787353 16p13.3 16 4505553G> A null G E 64 64 missense 0.897 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs200633966 16p13.3 16 4505552G> A null G R 64 64 missense 0.929 probably damaging 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs200633966 16p13.3 16 4505552G> C null G R 64 64 missense 0.929 probably damaging 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs200633966 16p13.3 16 4505552G> T null G W 64 64 missense 0.997 probably damaging 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs371416587 16p13.3 16 4505555G> T null V L 65 65 missense 0.015 benign 0.19 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs146113635 16p13.3 16 4505560C> A null D E 66 66 missense 0.172 benign 0.1 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139017711 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 16p13.3 16 4505561G> A null E K 67 67 2.0E-4 missense 0.78 possibly damaging 0.06 tolerated - low confidence 1 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs79720456 16p13.3 16 4505567G> A null E K 69 69 missense 0.247 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs774345742 16p13.3 16 4505570A> T null K * 70 70 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs774345742 16p13.3 16 4505570A> G null K E 70 70 missense 0.012 benign 0.11 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs367862306 16p13.3 16 4505572A> C null K N 70 70 missense 0.02 benign 0.03 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1248893951 16p13.3 16 4505573A> G null K E 71 71 missense 0.012 benign 0.1 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1469063084 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 16p13.3 16 4505575G> T null K N 71 71 missense 0.012 benign 0.06 tolerated 1 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1381352232 16p13.3 16 4505579T> G null S A 73 73 missense 0.012 benign 0.08 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1381352232 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4505579T> C null S P 73 73 missense 0.012 benign 0.11 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1252011600 16p13.3 16 4505583G> A null G E 74 74 missense 0.007 benign 0.26 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1193980393 16p13.3 16 4505582G> C null G R 74 74 missense 0.007 benign 0.14 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs749372202 16p13.3 16 4505586C> A null A D 75 75 missense 0.02 benign 0.01 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1385669595 16p13.3 16 4505598A> G null E G 79 79 missense 0.772 possibly damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC rs764161903 16p13.3 16 4505601A> G null N S 80 80 missense 0.03 benign 0.15 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1332708922 16p13.3 16 4505605A> T null Q H 81 81 missense 0.001 benign 1.0 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1444517634 16p13.3 16 4505610G> A null R K 83 83 missense 0.018 benign 0.34 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1422853117 16p13.3 16 4506896A> G null M V 84 84 missense 0.005 benign 0.24 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1369676590 16p13.3 16 4506900C> G null A G 85 85 missense 0.001 benign 0.14 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs752031128 16p13.3 16 4506899G> C null A P 85 85 missense 0.005 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs372362103 16p13.3 16 4506903A> G null D G 86 86 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs777612788 16p13.3 16 4506905C> T null L F 87 87 missense 0.436 benign 0.03 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs777612788 16p13.3 16 4506905C> G null L V 87 87 missense 0.843 possibly damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs753522599 16p13.3 16 4506909C> T null S L 88 88 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1401279877 16p13.3 16 4506914C> G null L V 90 90 missense 0.996 probably damaging 0.12 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes rs533385221 16p13.3 16 4506926G> C null G R 94 94 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs778442977 16p13.3 16 4506941C> T null H Y 99 99 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs200960043 16p13.3 16 4506944G> A null D N 100 100 missense 0.871 possibly damaging 0.11 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs150902900 16p13.3 16 4506948G> T null R L 101 101 missense 0.316 benign 0.15 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs150902900 16p13.3 16 4506948G> A null R Q 101 101 missense 0.014 benign 0.44 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs779840322 16p13.3 16 4506947C> T null R W 101 101 missense 0.047 benign 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs776861637 16p13.3 16 4506950G> A null A T 102 102 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1255751875 16p13.3 16 4506956A> T null N Y 104 104 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs11542539 16p13.3 16 4506959A> G null T A 105 105 missense 0.828 possibly damaging 0.09 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs773286905 16p13.3 16 4506960C> G null T S 105 105 missense 0.91 probably damaging 0.11 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs149978208 16p13.3 16 4506964G> C null Q H 106 106 missense 0.825 possibly damaging 0.08 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1297643934 16p13.3 16 4506973G> C null K N 109 109 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1423756221 16p13.3 16 4506987G> A null G D 114 114 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs752086119 16p13.3 16 4506990A> G null N S 115 115 missense 0.401 benign 0.72 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs144293425 16p13.3 16 4506998A> G null K E 118 118 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs140785119 16p13.3 16 4507002A> G null E G 119 119 missense 0.808 possibly damaging 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs753571806 16p13.3 16 4507001G> C null E Q 119 119 missense 0.809 possibly damaging 0.11 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs764664140 16p13.3 16 4507011A> G null K R 122 122 missense 0.999 probably damaging 0.32 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs764664140 16p13.3 16 4507011A> C null K T 122 122 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1225999422 [NCI-TCGA]: Variant assessed as Somatic; impact. 16p13.3 16 4507716G> A null A T 124 124 missense 0.999 probably damaging 0.25 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs774501801 16p13.3 16 4507719A> G null T A 125 125 missense 0.998 probably damaging 0.19 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs145235886 16p13.3 16 4507723C> T null T M 126 126 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs772761316 16p13.3 16 4507725G> A null A T 127 127 missense 1.0 probably damaging 0.07 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1459877169 16p13.3 16 4507728C> T null L F 128 128 missense 1.0 probably damaging 0.09 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs934928731 16p13.3 16 4507734T> C null F L 130 130 missense 0.579 possibly damaging 0.05 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs934928731 16p13.3 16 4507734T> G null F V 130 130 missense 0.902 possibly damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,NCI-TCGA,gnomAD rs776135228 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4507740T> C null Y H 132 132 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs1053278224 16p13.3 16 4507747C> T null A V 134 134 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,TOPMed,gnomAD rs370199793 16p13.3 16 4507752G> A null E K 136 136 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,TOPMed,gnomAD rs370199793 16p13.3 16 4507752G> C null E Q 136 136 missense 0.984 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1432394162 16p13.3 16 4507765A> T null E V 140 140 missense 0.378 benign 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC rs748374674 16p13.3 16 4507764_4507765insTCTGAG A null E V 140 140 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147603390 [NCI-TCGA]: Variant assessed as Somatic; impact. 16p13.3 16 4507767C> T null R C 141 141 missense 0.957 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs762447171 16p13.3 16 4507768G> A null R H 141 141 missense 0.015 benign 0.06 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs762447171 16p13.3 16 4507768G> C null R P 141 141 missense 0.929 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs751129957 16p13.3 16 4507770A> G null N D 142 142 missense 0.877 possibly damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs11542540 16p13.3 16 4507775G> C null K N 143 143 missense 0.874 possibly damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1255996905 16p13.3 16 4507779C> G null H D 145 145 missense 0.998 probably damaging 0.08 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs777846729 16p13.3 16 4507780A> T null H L 145 145 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1457269941 16p13.3 16 4507782C> G null P A 146 146 missense 0.185 benign 0.05 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1402202708 16p13.3 16 4507791G> T null A S 149 149 missense 0.131 benign 0.24 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs767486040 16p13.3 16 4507799G> C null L F 151 151 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1217639891 16p13.3 16 4507803T> C null F L 153 153 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1181546225 16p13.3 16 4507804T> A null F Y 153 153 missense 0.996 probably damaging 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1411624466 16p13.3 16 4507806C> T null P S 154 154 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1445330217 16p13.3 16 4507811G> A null M I 155 155 missense 0.015 benign 0.18 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs142159880 16p13.3 16 4507810T> C null M T 155 155 missense 0.003 benign 0.59 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs201448786 16p13.3 16 4507812G> A null E K 156 156 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1027239695 16p13.3 16 4507815C> G null L V 157 157 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs779261250 16p13.3 16 4507820C> A null H Q 158 158 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1466633011 16p13.3 16 4507818C> T null H Y 158 158 missense 0.998 probably damaging 0.11 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,NCI-TCGA,TOPMed rs151216051 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4507822G> A null R Q 159 159 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs772245870 16p13.3 16 4507821C> T null R W 159 159 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs1567403965 16p13.3 16 4507828A> T null E V 161 161 missense 0.338 benign 0.03 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ExAC,TOPMed,gnomAD rs529232647 16p13.3 16 4507831C> T null A V 162 162 2.0E-4 missense 0.062 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1275777827 16p13.3 16 4507834T> A null L Q 163 163 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs965281993 16p13.3 16 4507847G> C null M I 167 167 missense 0.326 benign 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150288371 16p13.3 16 4507845A> T null M L 167 167 2.0E-4 missense 0.01 benign 1.0 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150288371 16p13.3 16 4507845A> G null M V 167 167 2.0E-4 missense 0.326 benign 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs762152681 cosmic curated [Cosmic]: kidney cosmic_study:588 16p13.3 16 4507850G> T null E D 168 168 missense 0.077 benign 0.04 deleterious 1 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1274829924 cosmic curated [Cosmic]: large_intestine cosmic_study:375 16p13.3 16 4507854T> C null F L 170 170 missense 0.098 benign 0.05 deleterious 1 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs770639540 16p13.3 16 4507855T> C null F S 170 170 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs899690261 16p13.3 16 4507861G> T null G V 172 172 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs976454169 16p13.3 16 4507871G> A null W * 175 175 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs1368473884 16p13.3 16 4507874G> T null E D 176 176 missense 0.077 benign 0.03 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs773963864 16p13.3 16 4507873A> G null E G 176 176 missense 0.011 benign 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs759100015 16p13.3 16 4507876A> C null E A 177 177 missense 0.531 possibly damaging 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs759100015 16p13.3 16 4507876A> T null E V 177 177 missense 0.693 possibly damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs752716652 16p13.3 16 4507881G> A null V M 179 179 missense 0.846 possibly damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1289082560 16p13.3 16 4507888G> A null C Y 181 181 missense 1.0 probably damaging 0.3 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1423060199 16p13.3 16 4507894A> T null K M 183 183 missense 0.309 benign 0.03 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1170209979 16p13.3 16 4507896G> A null A T 184 184 missense 0.974 probably damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs763959489 16p13.3 16 4507899G> C null A P 185 185 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs763959489 16p13.3 16 4507899G> T null A S 185 185 missense 0.482 possibly damaging 0.05 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1414201502 16p13.3 16 4507902C> G null Q E 186 186 missense 0.061 benign 0.1 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,TOPMed rs368366579 16p13.3 16 4507903A> G null Q R 186 186 missense 0.003 benign 0.17 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs1371229120 16p13.3 16 4507907G> T null K N 187 187 missense 0.094 benign 0.16 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs145115777 16p13.3 16 4507911G> A null V M 189 189 missense 0.603 possibly damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes rs201848734 16p13.3 16 4507914G> A null E K 190 190 2.0E-4 missense 0.792 possibly damaging 0.2 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,dbSNP,gnomAD rs17884623 16p13.3 16 4507918G> A null R Q 191 191 missense 0.125 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs200093650 16p13.3 16 4507917C> T null R W 191 191 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1013103645 16p13.3 16 4507920A> T null I F 192 192 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1223918681 16p13.3 16 4507932G> C null G R 196 196 missense 1.0 probably damaging 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs373695179 16p13.3 16 4507940C> A null N K 198 198 missense 0.626 possibly damaging 0.32 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs1567404252 16p13.3 16 4507939A> G null N S 198 198 missense 0.079 benign 0.29 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1279106304 16p13.3 16 4507943G> C null E D 199 199 missense 0.519 possibly damaging 0.23 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs549233053 16p13.3 16 4507941G> A null E K 199 199 missense 0.146 benign 0.05 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,NCI-TCGA,dbSNP,gnomAD rs17880805 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4507945C> T null P L 200 200 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs143834831 16p13.3 16 4507948A> C null E A 201 201 missense 1.0 probably damaging 0.12 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ExAC,TOPMed rs551594596 16p13.3 16 4507953C> G null L V 203 203 2.0E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs950298764 16p13.3 16 4507956G> A null V M 204 204 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1195427961 16p13.3 16 4507966C> G null A G 207 207 missense 0.497 possibly damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs141850509 16p13.3 16 4507972C> T null T I 209 209 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs141850509 16p13.3 16 4507972C> A null T N 209 209 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs774801525 16p13.3 16 4507974C> T null R C 210 210 missense 0.257 benign 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1397312786 16p13.3 16 4507975G> A null R H 210 210 missense 0.975 probably damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1044792190 16p13.3 16 4507986G> A null D N 214 214 missense 0.473 possibly damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1044792190 16p13.3 16 4507986G> T null D Y 214 214 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,TOPMed rs376324998 16p13.3 16 4507993C> T null S L 216 216 missense 0.904 possibly damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,gnomAD rs140824852 16p13.3 16 4507995G> C null G R 217 217 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ExAC,gnomAD rs201052620 16p13.3 16 4507999G> A null G D 218 218 2.0E-4 missense 0.957 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1431609457 16p13.3 16 4508004G> A null V M 220 220 missense 0.999 probably damaging 0.08 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs765075636 16p13.3 16 4508007C> G null L V 221 221 missense 0.597 possibly damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs750705876 16p13.3 16 4508013A> G null K E 223 223 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs758636584 16p13.3 16 4508014A> T null K M 223 223 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs766610668 16p13.3 16 4508017T> C null V A 224 224 missense 0.931 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1307360635 16p13.3 16 4508016G> A null V M 224 224 missense 0.992 probably damaging 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1354699007 16p13.3 16 4508020C> T null A V 225 225 missense 0.863 possibly damaging 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs921371284 16p13.3 16 4508022C> G null Q E 226 226 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ExAC,NCI-TCGA,gnomAD rs533686422 [NCI-TCGA]: Variant assessed as Somatic; impact. 16p13.3 16 4508025C> T null R * 227 227 2.0E-4 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs371292152 16p13.3 16 4508026G> A null R Q 227 227 missense 0.869 possibly damaging 0.05 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1255272760 16p13.3 16 4508032T> G null L R 229 229 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1178417175 16p13.3 16 4508034A> C null K Q 230 230 missense 0.53 possibly damaging 0.2 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1251345969 16p13.3 16 4508035A> C null K T 230 230 missense 0.904 possibly damaging 0.05 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1470326350 16p13.3 16 4508047C> T null T I 234 234 missense 0.968 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ExAC,gnomAD rs567262048 16p13.3 16 4508052G> A null E K 236 236 2.0E-4 missense 0.998 probably damaging 0.08 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1326570255 16p13.3 16 4508059C> T null T I 238 238 missense 0.969 probably damaging 0.53 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2404579 16p13.3 16 4508063G> T null Q H 239 239 0.001198 missense 0.973 probably damaging 0.06 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1308282999 16p13.3 16 4508076G> C null E Q 244 244 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs768188799 16p13.3 16 4508087C> G null D E 247 247 missense 0.138 benign 0.34 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs746538008 16p13.3 16 4508085G> C null D H 247 247 missense 0.876 possibly damaging 0.16 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs776731134 16p13.3 16 4508089A> G null N S 248 248 missense 0.991 probably damaging 0.47 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs765128900 16p13.3 16 4508092C> T null A V 249 249 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1004113775 16p13.3 16 4508095A> C null Q P 250 250 missense 0.939 probably damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1358874196 16p13.3 16 4508097C> T null Q * 251 251 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1275526145 16p13.3 16 4508102C> G null F L 252 252 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs773199343 16p13.3 16 4508104A> G null K R 253 253 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1038232267 cosmic curated [Cosmic]: oesophagus cosmic_study:582 16p13.3 16 4508113A> G null Y C 256 256 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1183606938 16p13.3 16 4508116G> A null R Q 257 257 missense 0.138 benign 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,NCI-TCGA,gnomAD rs762804813 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4508115C> T null R W 257 257 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1410134095 16p13.3 16 4508118G> A null A T 258 258 missense 0.52 possibly damaging 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1366195323 16p13.3 16 4508122G> A null R K 259 259 missense 0.991 probably damaging 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1182131087 16p13.3 16 4508124A> G null M V 260 260 missense 0.62 possibly damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1472137687 16p13.3 16 4508128A> G null N S 261 261 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs751785391 16p13.3 16 4508130G> T null A S 262 262 missense 0.659 possibly damaging 0.58 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs751785391 16p13.3 16 4508130G> A null A T 262 262 missense 0.066 benign 0.28 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1397011934 16p13.3 16 4508138C> G null D E 264 264 missense 0.99 probably damaging 0.8 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1325427236 16p13.3 16 4508147G> A null M I 267 267 missense 0.01 benign 0.18 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs756560446 16p13.3 16 4508149A> G null K R 268 268 missense 0.017 benign 0.1 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1340102023 16p13.3 16 4508154A> G null K E 270 270 missense 0.999 probably damaging 0.1 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1233914072 16p13.3 16 4508158A> G null E G 271 271 missense 0.964 probably damaging 0.03 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1238039873 16p13.3 16 4508160A> G null R G 272 272 missense 0.626 possibly damaging 0.06 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1316560678 16p13.3 16 4508163A> C null I L 273 273 missense 0.781 possibly damaging 0.1 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed rs749716286 16p13.3 16 4508166G> A null V M 274 274 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs779619149 16p13.3 16 4508173A> C null E A 276 276 missense 0.425 benign 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs762353294 16p13.3 16 4508178A> G null N D 278 278 missense 0.789 possibly damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs762353294 16p13.3 16 4508178A> C null N H 278 278 missense 0.976 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs768081169 16p13.3 16 4508179A> G null N S 278 278 missense 0.25 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs901093070 16p13.3 16 4508183G> C null K N 279 279 missense 0.904 possibly damaging 0.18 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1441505624 16p13.3 16 4508185C> G null A G 280 280 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1307403235 16p13.3 16 4508184G> A null A T 280 280 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs374010778 16p13.3 16 4508194A> G null Y C 283 283 missense 0.99 probably damaging 0.03 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs998079904 16p13.3 16 4508199A> C null M L 285 285 missense 0.114 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1476789839 16p13.3 16 4508200T> C null M T 285 285 missense 0.777 possibly damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs998079904 16p13.3 16 4508199A> G null M V 285 285 missense 0.161 benign 0.05 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1169956447 16p13.3 16 4508202C> T null Q * 286 286 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1364645664 16p13.3 16 4509412A> T null I L 287 287 missense 0.318 benign 0.29 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs1226282170 16p13.3 16 4509417C> A null F L 288 288 missense 0.098 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145119833 16p13.3 16 4509415T> C null F L 288 288 2.0E-4 missense 0.098 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs145119833 16p13.3 16 4509415T> G null F V 288 288 2.0E-4 missense 0.891 possibly damaging 0.05 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs772350718 16p13.3 16 4509418A> C null N H 289 289 missense 0.695 possibly damaging 0.27 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ExAC,TOPMed,gnomAD rs544973749 16p13.3 16 4509419A> G null N S 289 289 2.0E-4 missense 0.001 benign 0.44 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs140533981 16p13.3 16 4509428A> T null D V 292 292 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149714752 16p13.3 16 4509433G> C null A P 294 294 9.98E-4 missense 0.897 possibly damaging 0.1 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1486789480 16p13.3 16 4509437G> C null G A 295 295 missense 0.63 possibly damaging 0.05 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1166901516 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4509436G> A null G S 295 295 missense 0.326 benign 0.06 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs368493354 16p13.3 16 4509440C> T null S F 296 296 missense 0.043 benign 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1208050023 16p13.3 16 4509439T> A null S T 296 296 missense 0.003 benign 0.07 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs866573142 16p13.3 16 4509449C> A null A D 299 299 missense 0.739 possibly damaging 0.06 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs866573142 16p13.3 16 4509449C> G null A G 299 299 missense 0.007 benign 0.08 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs781039500 16p13.3 16 4509448G> A null A T 299 299 missense 0.039 benign 0.18 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs752347693 16p13.3 16 4509456G> C null E D 301 301 missense 0.005 benign 0.2 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1201174626 16p13.3 16 4509464A> C null E A 304 304 missense 0.018 benign 0.03 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs755713565 16p13.3 16 4509466G> A null D N 305 305 missense 0.073 benign 0.28 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1293529381 16p13.3 16 4509469G> A null G R 306 306 missense 0.085 benign 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs749192925 16p13.3 16 4509478G> A null V I 309 309 missense 0.012 benign 0.09 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1374149100 16p13.3 16 4509482A> T null H L 310 310 missense 0.045 benign 0.06 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1307564233 16p13.3 16 4509481C> A null H N 310 310 missense 0.755 possibly damaging 0.03 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1035557707 [NCI-TCGA]: Variant assessed as Somatic; impact. 16p13.3 16 4509484G> A null D N 311 311 missense 0.062 benign 0.03 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1261716010 16p13.3 16 4509488G> A null G E 312 312 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1020224900 16p13.3 16 4509494G> C null G A 314 314 missense 0.899 possibly damaging 0.13 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs771835435 16p13.3 16 4509493G> A null G R 314 314 missense 0.978 probably damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs771835435 16p13.3 16 4509493G> C null G R 314 314 missense 0.978 probably damaging 0.02 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34975267 16p13.3 16 4509498C> A null D E 315 315 0.003395 missense 0.889 possibly damaging 0.15 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs775714841 16p13.3 16 4509496G> A null D N 315 315 missense 0.263 benign 0.07 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs761786899 16p13.3 16 4509500T> C null M T 316 316 missense 0.062 benign 0.24 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs776715651 16p13.3 16 4509499A> G null M V 316 316 missense 0.0 benign 1.0 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,NCI-TCGA,TOPMed,gnomAD rs765813577 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4509502C> T null R C 317 317 missense 0.045 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs773570009 16p13.3 16 4509503G> A null R H 317 317 missense 0.045 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs763432311 16p13.3 16 4509505A> C null K Q 318 318 missense 0.233 benign 0.08 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs1567406675 16p13.3 16 4509512C> G null P R 320 320 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs142512604 16p13.3 16 4509519C> G null Y * 322 322 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs142512604 16p13.3 16 4509519C> A null Y * 322 322 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs752399199 16p13.3 16 4509517T> C null Y H 322 322 missense 0.962 probably damaging 0.07 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs372920286 16p13.3 16 4509520G> A null A T 323 323 missense 0.063 benign 0.1 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1425855332 16p13.3 16 4509521C> T null A V 323 323 missense 0.328 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1174191302 16p13.3 16 4509526G> A null E K 325 325 missense 0.001 benign 0.6 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1400089683 16p13.3 16 4509529C> T null Q * 326 326 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1400089683 16p13.3 16 4509529C> G null Q E 326 326 missense 0.02 benign 0.35 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1441019422 16p13.3 16 4509530A> C null Q P 326 326 missense 0.011 benign 0.29 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs778962279 16p13.3 16 4509533A> G null D G 327 327 missense 0.012 benign 0.11 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1298327866 16p13.3 16 4509532G> A null D N 327 327 missense 0.363 benign 0.07 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs745759244 16p13.3 16 4509535A> G null K E 328 328 missense 0.281 benign 0.1 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs751422587 16p13.3 16 4509629G> C null G A 329 329 missense 0.306 benign 0.18 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1292166929 16p13.3 16 4509538G> A null G S 329 329 missense 0.953 probably damaging 0.09 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs751422587 16p13.3 16 4509629G> T null G V 329 329 missense 0.969 probably damaging 0.03 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1241993190 16p13.3 16 4509631G> C null A P 330 330 missense 0.642 possibly damaging 0.06 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs1567406955 16p13.3 16 4509635T> A null L Q 331 331 missense 0.071 benign 0.11 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs754706311 16p13.3 16 4509640G> A null G S 333 333 missense 0.202 benign 0.11 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1188618493 16p13.3 16 4509649T> C null C R 336 336 missense 0.921 probably damaging 0.01 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs958108986 16p13.3 16 4509650G> C null C S 336 336 missense 0.557 possibly damaging 0.05 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs146410700 16p13.3 16 4509658C> T null R * 339 339 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs146410700 16p13.3 16 4509658C> G null R G 339 339 missense 0.003 benign 0.09 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ExAC,TOPMed,gnomAD rs183656134 16p13.3 16 4509659G> T null R L 339 339 7.99E-4 missense 0.168 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs183656134 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4509659G> A null R Q 339 339 7.99E-4 missense 0.003 benign 0.51 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140794370 16p13.3 16 4509662C> T null T I 340 340 0.001398 missense 0.019 benign 0.1 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140794370 16p13.3 16 4509662C> G null T R 340 340 0.001398 missense 0.355 benign 0.04 deleterious 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ExAC,TOPMed,gnomAD rs140613792 16p13.3 16 4509667A> G null M V 342 342 5.99E-4 missense 0.003 benign 0.21 tolerated 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1315641682 16p13.3 16 4509683A> G null K R 347 347 missense 0.029 benign 0.05 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs760031391 16p13.3 16 4509689G> C null S T 349 349 missense 0.044 benign 0.45 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs1567407097 16p13.3 16 4509691C> T null L F 350 350 missense 0.045 benign 0.07 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs928549655 16p13.3 16 4509694C> G null Q E 351 351 missense 0.992 probably damaging 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs772279510 16p13.3 16 4509706G> T null A S 355 355 missense 0.947 probably damaging 0.01 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs772279510 16p13.3 16 4509706G> A null A T 355 355 missense 0.947 probably damaging 0.12 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1289144656 16p13.3 16 4509707C> T null A V 355 355 missense 0.365 benign 0.03 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ESP,ExAC,TOPMed,gnomAD rs375786109 16p13.3 16 4509709G> A null A T 356 356 missense 0.031 benign 0.21 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1010079482 16p13.3 16 4509710C> T null A V 356 356 missense 0.018 benign 0.76 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs764819320 16p13.3 16 4509719C> T null A V 359 359 missense 0.911 probably damaging 0.05 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed,gnomAD rs1258013260 16p13.3 16 4509721C> G null L V 360 360 missense 0.999 probably damaging 0.39 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) 1000Genomes,ExAC,gnomAD rs552237928 16p13.3 16 4509733C> T null L F 364 364 2.0E-4 missense 0.045 benign 0.14 tolerated - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) gnomAD rs1448057802 16p13.3 16 4509734T> C null L P 364 364 missense 0.967 probably damaging 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,gnomAD rs763714734 16p13.3 16 4509746du p null Y * 368 368 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) TOPMed rs1406228176 16p13.3 16 4509745T> C null Y H 368 368 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) Ensembl rs887560332 16p13.3 16 4509750C> A null Y * 369 369 stop gained 0 A0A087WT44 HMOX2 Heme oxygenase (biliverdin-producing) ExAC,TOPMed,gnomAD rs751449180 16p13.3 16 4509749A> G null Y C 369 369 missense 0.917 probably damaging 0.01 deleterious - low confidence 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,gnomAD rs781991565 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 Xp11.23 X 49002225G> A null A V 2 2 missense 0.998 probably damaging 0.0 deleterious 1 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782281062 Xp11.23 X 49002220C> G null A P 4 4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782281062 Xp11.23 X 49002220C> A null A S 4 4 missense 0.999 probably damaging 0.18 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782281062 Xp11.23 X 49002220C> T null A T 4 4 missense 0.999 probably damaging 0.1 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1382591790 Xp11.23 X 49002214A> G null S P 6 6 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,TOPMed,gnomAD rs370286663 Xp11.23 X 49002209C> G null E D 7 7 missense 0.795 possibly damaging 0.27 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1569520273 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. Xp11.23 X 49002211C> T null E K 7 7 missense 0.81 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782574575 Xp11.23 X 49002204T> G null E A 9 9 missense 0.266 benign 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782574575 Xp11.23 X 49002204T> C null E G 9 9 missense 0.566 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1557068763 Xp11.23 X 49002198T> C null Q R 11 11 missense 0.991 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782443546 Xp11.23 X 49002191C> T null M I 13 13 missense 0.06 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1569520270 Xp11.23 X 49002190G> C null Q E 14 14 missense 0.127 benign 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1172827486 Xp11.23 X 48999499C> G null Q H 16 16 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1429331716 Xp11.23 X 48999500T> C null Q R 16 16 missense 0.839 possibly damaging 0.12 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557067802 Xp11.23 X 48999492C> G null E Q 19 19 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs909837695 Xp11.23 X 48999486G> A null R W 21 21 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782002334 Xp11.23 X 48999480T> C null N D 23 23 missense 0.132 benign 0.35 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1367346825 Xp11.23 X 48999471G> C null Q E 26 26 missense 0.986 probably damaging 0.16 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557067777 Xp11.23 X 48999460A> T null D E 29 29 missense 0.997 probably damaging 0.1 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782643265 cosmic curated [Cosmic]: pancreas pubmed:23103869,cosmic_study:328,cosmic_study:436 Xp11.23 X 48999453G> A null R C 32 32 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs377433897 Xp11.23 X 48999452C> T null R H 32 32 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs377433897 Xp11.23 X 48999452C> A null R L 32 32 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,dbSNP,gnomAD rs782183189 Xp11.23 X 48999440A> G null V A 36 36 missense 0.003 benign 0.54 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1218360444 Xp11.23 X 48999294T> C null T A 39 39 missense 0.001 benign 0.5 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782317083 Xp11.23 X 48999285G> A null R * 42 42 stop gained 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782317083 Xp11.23 X 48999285G> C null R G 42 42 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1464612429 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. cosmic_study:376 Xp11.23 X 48999273C> T null A T 46 46 missense 0.049 benign 0.25 tolerated 1 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs781828131 Xp11.23 X 48999269T> C null Y C 47 47 missense 0.951 probably damaging 0.12 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC rs782391337 Xp11.23 X 48999262A> T null D E 49 49 missense 0.94 probably damaging 0.77 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557067668 Xp11.23 X 48999246C> T null A T 55 55 missense 0.447 possibly damaging 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557067663 Xp11.23 X 48999242T> C null Q R 56 56 missense 0.127 benign 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557066082 Xp11.23 X 48993530C> G null E Q 74 74 missense 0.22 benign 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557066080 Xp11.23 X 48993527C> T null G R 75 75 missense 0.041 benign 0.09 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557066071 Xp11.23 X 48993517C> T null G E 78 78 missense 0.054 benign 0.57 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes rs782402972 Xp11.23 X 48993514G> A null A V 79 79 2.65E-4 missense 0.001 benign 0.24 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557066062 Xp11.23 X 48993509C> A null V F 81 81 missense 0.189 benign 0.07 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557066057 Xp11.23 X 48993496C> T null G E 85 85 missense 0.028 benign 0.21 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782456517 Xp11.23 X 48993493G> A null P L 86 86 missense 0.0 benign 0.21 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782456517 Xp11.23 X 48993493G> C null P R 86 86 missense 0.048 benign 0.09 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782800213 Xp11.23 X 48993494G> T null P T 86 86 missense 0.031 benign 0.15 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782758943 Xp11.23 X 48993488C> G null V L 88 88 missense 0.989 probably damaging 0.1 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782758943 Xp11.23 X 48993488C> T null V M 88 88 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782079718 Xp11.23 X 48993464G> T null Q K 96 96 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557066037 Xp11.23 X 48993460G> T null A D 97 97 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557066034 Xp11.23 X 48993441C> G null Q H 103 103 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs371012296 Xp11.23 X 48993434C> T null V M 106 106 missense 0.065 benign 0.68 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557065397 Xp11.23 X 48991104T> C null Q R 110 110 missense 0.242 benign 0.1 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1481970544 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48991099G> A null R C 112 112 missense 0.66 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782597002 Xp11.23 X 48991098C> T null R H 112 112 missense 0.742 possibly damaging 0.07 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782384056 Xp11.23 X 48991093C> T null G R 114 114 missense 0.415 benign 0.09 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782689166 Xp11.23 X 48991087C> T null E K 116 116 missense 0.127 benign 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs781800766 Xp11.23 X 48991081C> T null G R 118 118 missense 0.003 benign 0.27 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs781800766 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48991081C> A null G W 118 118 missense 0.721 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557065359 Xp11.23 X 48991076C> A null K N 119 119 missense 0.038 benign 0.34 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1177033261 Xp11.23 X 48991045G> A null P S 130 130 missense 0.007 benign 0.42 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557065348 Xp11.23 X 48991038C> T null G E 132 132 missense 0.006 benign 0.14 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs28489824 Xp11.23 X 48991039C> T null G R 132 132 missense 0.007 benign 0.12 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557065344 Xp11.23 X 48991035C> T null G D 133 133 missense 0.001 benign 0.07 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs61735977 pubmed:10574461,pubmed:15489334,pubmed:17974005 Xp11.23 X 48991032A> G null L P 134 134 0.05563 missense 0.0 benign 0.33 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs888764138 Xp11.23 X 48991021C> T null V I 138 138 missense 0.001 benign 0.22 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557065322 Xp11.23 X 48991017A> G null L P 139 139 missense 0.0 benign 0.25 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1569519911 Xp11.23 X 48991015C> A null A S 140 140 missense 0.001 benign 0.55 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1336173592 Xp11.23 X 48991011G> A null P L 141 141 missense 0.007 benign 0.26 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs145619775 Xp11.23 X 48991008A> G null M T 142 142 missense 0.0 benign 0.48 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs933063112 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48991005G> A null P L 143 143 missense 0.038 benign 0.24 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1372314814 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48990997C> T null E K 146 146 missense 0.372 benign 0.13 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557065305 Xp11.23 X 48990974C> T null M I 153 153 missense 0.132 benign 0.26 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,gnomAD rs145392219 Xp11.23 X 48990975A> G null M T 153 153 5.3E-4 missense 0.015 benign 1.0 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs143377400 Xp11.23 X 48990976T> C null M V 153 153 missense 0.009 benign 0.43 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs781966916 Xp11.23 X 48990964C> T null E K 157 157 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557065291 Xp11.23 X 48990953C> G null L F 160 160 missense 0.991 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1258150395 Xp11.23 X 48990954A> G null L S 160 160 missense 0.756 possibly damaging 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC rs781975978 Xp11.23 X 48990934C> T null G S 167 167 missense 0.918 probably damaging 0.33 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1256716925 Xp11.23 X 48990722T> C null Q R 173 173 missense 0.396 benign 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1307485994 Xp11.23 X 48990717C> T null E K 175 175 missense 0.968 probably damaging 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557065200 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48990710G> A null S F 177 177 missense 0.575 possibly damaging 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,TOPMed rs139901741 Xp11.23 X 48990689G> A null A V 184 184 missense 0.805 possibly damaging 0.17 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557064968 Xp11.23 X 48989866T> C null T A 202 202 missense 0.007 benign 0.52 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782796207 Xp11.23 X 48989853G> A null T I 206 206 missense 0.079 benign 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1009934296 Xp11.23 X 48989707G> T null N K 213 213 missense 0.81 possibly damaging 0.74 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs892927026 Xp11.23 X 48989686T> A null Q H 220 220 missense 0.993 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,gnomAD rs782236997 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48989684C> T null R Q 221 221 missense 0.013 benign 0.07 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1054660396 Xp11.23 X 48989685G> A null R W 221 221 missense 0.742 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1458203057 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48989679C> T null E K 223 223 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1172268381 Xp11.23 X 48989673C> T null D N 225 225 missense 0.918 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782668332 Xp11.23 X 48989660T> A null Q L 229 229 missense 0.012 benign 0.71 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782197996 Xp11.23 X 48989658A> T null L M 230 230 missense 0.599 possibly damaging 0.14 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557064869 Xp11.23 X 48989654G> A null A V 231 231 missense 0.007 benign 0.69 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782567085 Xp11.23 X 48989651C> T null R Q 232 232 missense 0.007 benign 0.27 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1167665343 Xp11.23 X 48989637G> T null Q K 237 237 missense 0.997 probably damaging 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,gnomAD rs200861777 Xp11.23 X 48989615T> C null N S 244 244 2.65E-4 missense 0.087 benign 0.17 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1225489877 Xp11.23 X 48988180C> G null D H 252 252 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557064483 Xp11.23 X 48988177G> T null Q K 253 253 missense 0.932 probably damaging 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782137925 Xp11.23 X 48988173C> T null R Q 254 254 missense 0.001 benign 0.37 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs145976528 Xp11.23 X 48988174G> A null R W 254 254 2.65E-4 missense 0.0 benign 0.19 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs781938487 Xp11.23 X 48988168C> A null G W 256 256 missense 0.917 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,TOPMed,gnomAD rs375575514 Xp11.23 X 48988162G> A null R C 258 258 missense 0.858 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs201552228 Xp11.23 X 48988161C> T null R H 258 258 2.65E-4 missense 0.804 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs201552228 Xp11.23 X 48988161C> A null R L 258 258 2.65E-4 missense 0.028 benign 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557064465 Xp11.23 X 48988152T> C null H R 261 261 missense 0.32 benign 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782298266 Xp11.23 X 48988137C> T null R Q 266 266 missense 0.024 benign 0.54 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs868932677 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48988138G> A null R W 266 266 missense 0.863 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1481129739 Xp11.23 X 48988127T> G null Q H 269 269 missense 0.982 probably damaging 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,gnomAD rs781864221 Xp11.23 X 48988125T> C null D G 270 270 2.65E-4 missense 0.365 benign 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1196658766 Xp11.23 X 48988126C> T null D N 270 270 missense 0.967 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557064450 Xp11.23 X 48988121C> A null Q H 271 271 missense 0.785 possibly damaging 0.08 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs936226014 Xp11.23 X 48987873G> A null S F 273 273 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557064352 Xp11.23 X 48987867T> C null Q R 275 275 missense 0.194 benign 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1240486486 Xp11.23 X 48987850C> T null E K 281 281 missense 0.981 probably damaging 0.07 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs781924704 Xp11.23 X 48987844C> T null V M 283 283 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557064335 Xp11.23 X 48987819T> C null N S 291 291 missense 0.001 benign 0.41 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed rs782214951 Xp11.23 X 48987817C> T null A T 292 292 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1208630512 Xp11.23 X 48987812C> A null L F 293 293 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782500347 Xp11.23 X 48987805T> C null S G 296 296 missense 0.133 benign 0.12 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557063460 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48985393C> T null A T 306 306 missense 0.047 benign 0.13 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782812913 Xp11.23 X 48985370C> A null M I 313 313 missense 0.0 benign 0.14 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs781934413 Xp11.23 X 48985365C> T null R Q 315 315 missense 0.971 probably damaging 0.21 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782154003 Xp11.23 X 48985366G> A null R W 315 315 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,dbSNP,gnomAD rs782702449 Xp11.23 X 48985339C> G null E Q 324 324 missense 0.907 possibly damaging 0.08 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557063445 Xp11.23 X 48985326T> C null Q R 328 328 missense 0.0 benign 1.0 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557063440 Xp11.23 X 48985322C> G null Q H 329 329 missense 0.804 possibly damaging 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs782108488 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48985312C> T null E K 333 333 missense 0.007 benign 0.05 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs781958479 Xp11.23 X 48985309C> T null D N 334 334 missense 0.009 benign 0.7 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1256873807 Xp11.23 X 48985296T> C null Q R 338 338 missense 0.22 benign 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782246592 Xp11.23 X 48985280G> T null N K 343 343 missense 0.003 benign 0.25 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374612847 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48985281T> C null N S 343 343 missense 0.001 benign 0.41 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1569519632 Xp11.23 X 48985275T> A null Q L 345 345 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs139086270 Xp11.23 X 48983860C> T null R Q 351 351 missense 0.23 benign 0.21 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782671944 Xp11.23 X 48983861G> A null R W 351 351 missense 0.978 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782738995 Xp11.23 X 48983855T> C null N D 353 353 missense 0.966 probably damaging 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1199052388 Xp11.23 X 48983848C> T null R Q 355 355 missense 0.511 possibly damaging 0.23 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062989 Xp11.23 X 48983846G> C null L V 356 356 missense 0.477 possibly damaging 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062978 Xp11.23 X 48983833A> T null L H 360 360 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062981 Xp11.23 X 48983834G> C null L V 360 360 missense 0.999 probably damaging 0.07 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs781860729 Xp11.23 X 48983821C> T null G E 364 364 missense 0.682 possibly damaging 0.27 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782796967 Xp11.23 X 48983808C> G null E D 368 368 missense 0.007 benign 0.65 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782139342 Xp11.23 X 48983806T> G null Q P 369 369 missense 0.609 possibly damaging 0.17 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs782569771 Xp11.23 X 48983800G> A null T I 371 371 missense 0.0 benign 0.54 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782307681 Xp11.23 X 48983788T> C null Q R 375 375 missense 0.088 benign 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782388874 Xp11.23 X 48983780G> C null R G 378 378 missense 0.937 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782238298 Xp11.23 X 48983779C> T null R Q 378 378 missense 0.942 probably damaging 0.04 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782388874 Xp11.23 X 48983780G> A null R W 378 378 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062830 Xp11.23 X 48983438A> C null S R 380 380 missense 0.421 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062825 Xp11.23 X 48983436G> A null A V 381 381 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062819 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48983427C> T null R Q 384 384 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062822 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48983428G> A null R W 384 384 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782087782 Xp11.23 X 48983422C> T null A T 386 386 missense 0.001 benign 0.05 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062812 Xp11.23 X 48983418A> T null M K 387 387 missense 0.353 benign 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1287159963 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48983394G> A null T M 395 395 missense 0.057 benign 0.26 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs879996158 Xp11.23 X 48983391A> G null L P 396 396 missense 0.511 possibly damaging 0.07 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782362437 Xp11.23 X 48983376T> C null Q R 401 401 missense 0.007 benign 0.75 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062791 Xp11.23 X 48983362G> T null L M 406 406 missense 0.999 probably damaging 0.13 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782219885 Xp11.23 X 48983350G> A null R C 410 410 missense 0.858 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs782656835 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. Xp11.23 X 48983349C> T null R H 410 410 missense 0.858 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062772 Xp11.23 X 48983343C> T null R Q 412 412 missense 0.003 benign 1.0 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,gnomAD rs782302254 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48983344G> A null R W 412 412 missense 0.742 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782440179 Xp11.23 X 48983329C> A null V L 417 417 missense 0.017 benign 0.15 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782604251 Xp11.23 X 48983322C> G null G A 419 419 missense 0.036 benign 0.39 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782604251 Xp11.23 X 48983322C> T null G E 419 419 missense 0.862 possibly damaging 0.04 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782173225 Xp11.23 X 48983323C> G null G R 419 419 missense 0.895 possibly damaging 0.04 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1284469158 Xp11.23 X 48983316C> T null R H 421 421 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1230664462 Xp11.23 X 48983310C> T null R H 423 423 missense 0.062 benign 0.04 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,gnomAD rs781900060 Xp11.23 X 48983307T> C null Y C 424 424 2.65E-4 missense 0.238 benign 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,gnomAD rs373484653 Xp11.23 X 48983305C> T null E K 425 425 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs868940708 Xp11.23 X 48983301C> T null R H 426 426 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782551758 Xp11.23 X 48983292C> T null R Q 429 429 missense 0.883 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs781811646 Xp11.23 X 48983276G> C null D E 434 434 missense 0.007 benign 0.8 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782707022 Xp11.23 X 48983274T> C null K R 435 435 missense 0.059 benign 0.14 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,gnomAD rs368857458 Xp11.23 X 48983272T> C null K E 436 436 missense 0.823 possibly damaging 0.11 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1483327253 Xp11.23 X 48983268C> T null R H 437 437 missense 0.847 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1569519542 Xp11.23 X 48983257C> T null E K 441 441 missense 0.447 possibly damaging 0.07 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,gnomAD rs781956837 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48983251G> A null R C 443 443 missense 0.919 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201225759 Xp11.23 X 48983250C> T null R H 443 443 missense 0.069 benign 0.1 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs202091927 Xp11.23 X 48983238C> T null R Q 447 447 2.65E-4 missense 0.314 benign 0.13 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062715 Xp11.23 X 48983239G> A null R W 447 447 missense 0.93 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1474404832 Xp11.23 X 48983233C> G null E Q 449 449 missense 0.312 benign 0.1 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782536065 Xp11.23 X 48983088C> T null R Q 452 452 missense 0.971 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1283120463 Xp11.23 X 48983089G> A null R W 452 452 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs868917792 Xp11.23 X 48983083G> C null R G 454 454 missense 0.445 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782821037 Xp11.23 X 48983082C> T null R Q 454 454 missense 0.314 benign 0.11 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs868917792 Xp11.23 X 48983083G> A null R W 454 454 missense 0.93 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1484960369 Xp11.23 X 48983079T> G null E A 455 455 missense 0.354 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062648 Xp11.23 X 48983065G> A null Q * 460 460 stop gained 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782693498 Xp11.23 X 48983044G> T null Q K 467 467 missense 0.023 benign 0.38 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782096464 Xp11.23 X 48983040G> C null A G 468 468 missense 0.669 possibly damaging 0.08 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1245832809 Xp11.23 X 48983024C> T null M I 473 473 missense 0.729 possibly damaging 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062643 Xp11.23 X 48983022T> C null D G 474 474 missense 0.864 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062637 Xp11.23 X 48983010C> T null G D 478 478 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs781949266 Xp11.23 X 48982998C> T null R Q 482 482 missense 0.887 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062635 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48982999G> A null R W 482 482 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC rs782383266 Xp11.23 X 48982996G> A null R C 483 483 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1569519506 Xp11.23 X 48982991C> G null L F 484 484 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,gnomAD rs782030477 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48982981C> T null E K 488 488 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062348 Xp11.23 X 48981872C> T null E K 489 489 missense 0.371 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs868988141 Xp11.23 X 48981868G> A null S F 490 490 missense 0.622 possibly damaging 0.04 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs372306235 Xp11.23 X 48981835G> T null A D 501 501 missense 0.07 benign 0.55 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs372306235 Xp11.23 X 48981835G> A null A V 501 501 missense 0.001 benign 0.24 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs199883406 Xp11.23 X 48981825C> G null Q H 504 504 5.3E-4 missense 0.601 possibly damaging 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782363296 Xp11.23 X 48981820C> T null R Q 506 506 missense 0.001 benign 0.6 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs781938549 Xp11.23 X 48981821G> A null R W 506 506 missense 0.495 possibly damaging 0.05 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1276236863 Xp11.23 X 48981818C> T null E K 507 507 missense 0.236 benign 0.29 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782007532 Xp11.23 X 48981809C> T null A T 510 510 missense 0.003 benign 0.35 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,TOPMed,gnomAD rs185201841 Xp11.23 X 48981803C> T null E K 512 512 2.65E-4 missense 0.123 benign 0.12 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1455426912 Xp11.23 X 48981687T> C null K R 516 516 missense 0.091 benign 0.14 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782071779 Xp11.23 X 48981683C> G null E D 517 517 missense 0.003 benign 0.55 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782799404 Xp11.23 X 48981685C> T null E K 517 517 missense 0.127 benign 0.2 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062238 Xp11.23 X 48981677C> A null E D 519 519 missense 0.492 possibly damaging 0.05 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062234 Xp11.23 X 48981673G> A null Q * 521 521 stop gained 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs981917759 Xp11.23 X 48981667C> T null V I 523 523 missense 0.003 benign 0.08 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146718584 Xp11.23 X 48981663C> T null R Q 524 524 7.95E-4 missense 0.003 benign 0.23 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782202699 Xp11.23 X 48981664G> A null R W 524 524 missense 0.597 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062220 Xp11.23 X 48981658G> C null Q E 526 526 missense 0.001 benign 0.25 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782294840 Xp11.23 X 48981652C> T null E K 528 528 missense 0.03 benign 0.59 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782294840 Xp11.23 X 48981652C> G null E Q 528 528 missense 0.003 benign 0.76 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs149173903 Xp11.23 X 48981646C> T null A T 530 530 missense 0.011 benign 0.25 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062208 Xp11.23 X 48981642T> C null Q R 531 531 missense 0.015 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782465657 Xp11.23 X 48981639T> G null E A 532 532 missense 0.0 benign 0.13 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs35608115 Xp11.23 X 48981636T> G null E A 533 533 0.005298 missense 0.005 benign 0.09 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782609474 Xp11.23 X 48981633C> T null R Q 534 534 missense 0.005 benign 0.17 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1318145375 Xp11.23 X 48981629G> C null D E 535 535 missense 0.007 benign 0.47 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062195 Xp11.23 X 48981621A> C null L R 538 538 missense 0.065 benign 0.33 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1569519414 Xp11.23 X 48981598G> C null Q E 546 546 missense 0.253 benign 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782514235 Xp11.23 X 48981597T> C null Q R 546 546 missense 0.419 benign 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782196103 Xp11.23 X 48981450C> G null G A 554 554 missense 0.046 benign 0.09 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,TOPMed rs373720668 Xp11.23 X 48981451C> T null G R 554 554 missense 0.867 possibly damaging 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062133 Xp11.23 X 48981430T> G null K Q 561 561 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062129 Xp11.23 X 48981426C> G null G A 562 562 missense 0.98 probably damaging 0.04 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs781921996 Xp11.23 X 48981423C> T null S N 563 563 missense 0.99 probably damaging 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,NCI-TCGA,gnomAD rs201483283 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48981417G> A null A V 565 565 2.65E-4 missense 0.007 benign 0.04 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782147649 Xp11.23 X 48981305G> A null L F 569 569 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782114748 Xp11.23 X 48981298C> A null R L 571 571 missense 0.041 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,gnomAD rs782114748 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48981298C> T null R Q 571 571 missense 0.818 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs782100480 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. Xp11.23 X 48981280C> T null R Q 577 577 missense 0.059 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1371024190 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48981281G> A null R W 577 577 missense 0.742 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs1219209910 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48981274C> T null R Q 579 579 missense 0.288 benign 0.05 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368055066 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48981275G> A null R W 579 579 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs868983022 Xp11.23 X 48981264C> A null K N 582 582 missense 0.127 benign 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557062013 Xp11.23 X 48981253C> T null R Q 586 586 missense 0.065 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1468936421 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. Xp11.23 X 48981221G> A null R C 597 597 missense 0.038 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs782625013 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48981220C> T null R H 597 597 missense 0.015 benign 0.07 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782338005 Xp11.23 X 48981217G> A null S L 598 598 missense 0.127 benign 0.14 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1569519230 Xp11.23 X 48978415A> G null S P 606 606 missense 0.761 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782118775 Xp11.23 X 48978411T> G null E A 607 607 missense 0.236 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557061069 Xp11.23 X 48978407C> T null M I 608 608 missense 0.02 benign 0.73 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs782467179 Xp11.23 X 48978400G> T null P T 611 611 missense 0.134 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557061064 Xp11.23 X 48978395G> T null S R 612 612 missense 0.474 possibly damaging 0.05 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs781905751 Xp11.23 X 48978394G> C null R G 613 613 missense 0.869 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782790481 Xp11.23 X 48978393C> T null R Q 613 613 missense 0.894 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs781905751 Xp11.23 X 48978394G> A null R W 613 613 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1428655918 Xp11.23 X 48978391T> C null T A 614 614 missense 0.003 benign 0.18 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1569519223 Xp11.23 X 48978390G> A null T I 614 614 missense 0.108 benign 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs201186615 Xp11.23 X 48978386C> G null Q H 615 615 2.65E-4 missense 0.473 possibly damaging 0.08 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782370081 Xp11.23 X 48978384G> A null T I 616 616 missense 0.108 benign 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782370081 Xp11.23 X 48978384G> C null T R 616 616 missense 0.169 benign 0.15 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs984974457 Xp11.23 X 48978375C> G null S T 619 619 missense 0.057 benign 0.13 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557061034 Xp11.23 X 48978370T> C null S G 621 621 missense 0.017 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557061032 Xp11.23 X 48978366A> G null I T 622 622 missense 0.236 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs781998171 Xp11.23 X 48978351T> A null Y F 627 627 missense 0.447 possibly damaging 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs953633302 Xp11.23 X 48978348C> T null R Q 628 628 missense 0.013 benign 0.1 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782370453 Xp11.23 X 48978337G> A null R W 632 632 missense 0.742 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed rs921600885 Xp11.23 X 48978324C> T null S N 636 636 missense 0.127 benign 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,gnomAD rs782291694 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48978321G> A null S L 637 637 missense 0.135 benign 0.05 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782318274 Xp11.23 X 48978313G> A null P S 640 640 missense 0.172 benign 0.35 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557060999 Xp11.23 X 48978306C> T null R K 642 642 missense 0.019 benign 0.85 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782282741 Xp11.23 X 48976359A> G null L S 644 644 missense 0.003 benign 0.7 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557060510 Xp11.23 X 48976357A> G null S P 645 645 missense 0.905 possibly damaging 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557060506 Xp11.23 X 48976352G> T null S R 646 646 missense 0.353 benign 0.4 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557060504 Xp11.23 X 48976350C> T null S N 647 647 missense 0.966 probably damaging 0.21 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782590734 Xp11.23 X 48976333G> C null P A 653 653 missense 0.007 benign 0.21 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782440919 Xp11.23 X 48976329C> T null R Q 654 654 missense 0.983 probably damaging 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1394598430 Xp11.23 X 48976330G> A null R W 654 654 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs868967659 Xp11.23 X 48976318G> T null L M 658 658 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782232523 Xp11.23 X 48976307C> G null E D 661 661 missense 0.045 benign 0.35 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557060482 Xp11.23 X 48976287T> C null Q R 668 668 missense 0.642 possibly damaging 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557060476 Xp11.23 X 48976284C> T null R Q 669 669 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782600135 Xp11.23 X 48976267G> T null Q K 675 675 missense 0.836 possibly damaging 0.03 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557060468 Xp11.23 X 48976260T> C null K R 677 677 missense 0.646 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557060374 Xp11.23 X 48976062C> T null R Q 700 700 missense 0.117 benign 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,NCI-TCGA,gnomAD rs781793618 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48976054C> T null A T 703 703 2.65E-4 missense 0.089 benign 0.08 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782178145 Xp11.23 X 48976042T> C null T A 707 707 missense 0.014 benign 0.24 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1019007123 Xp11.23 X 48976036C> T null V I 709 709 missense 0.443 benign 0.09 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs868912958 Xp11.23 X 48976030C> A null D Y 711 711 missense 0.878 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782251028 Xp11.23 X 48976023C> T null R Q 713 713 missense 0.991 probably damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP rs369496589 Xp11.23 X 48976018C> T null D N 715 715 missense 0.847 possibly damaging 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,gnomAD rs200817091 Xp11.23 X 48975301C> T null V M 718 718 2.65E-4 missense 0.06 benign 0.29 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557060079 Xp11.23 X 48975294G> C null A G 720 720 missense 0.007 benign 0.5 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs141095333 Xp11.23 X 48975292C> T null G S 721 721 missense 0.034 benign 0.35 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 1000Genomes,ExAC,gnomAD rs782497881 Xp11.23 X 48975279C> T null R H 725 725 2.65E-4 missense 0.799 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782187461 Xp11.23 X 48975277T> C null S G 726 726 missense 0.015 benign 0.54 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs371338539 Xp11.23 X 48975274C> T null G R 727 727 missense 0.043 benign 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs781802772 Xp11.23 X 48975233G> T null D E 740 740 missense 0.882 possibly damaging 0.08 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557060047 Xp11.23 X 48975222C> T null R Q 744 744 missense 0.991 probably damaging 0.08 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782557685 Xp11.23 X 48975178T> C null T A 759 759 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs1379626994 Xp11.23 X 48975157T> C null K E 766 766 missense 0.73 possibly damaging 0.01 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs782513712 Xp11.23 X 48974282T> A null M L 768 768 missense 0.0 benign 1.0 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557059800 Xp11.23 X 48974276C> T null V I 770 770 missense 0.061 benign 0.04 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557059792 Xp11.23 X 48974270A> C null S A 772 772 missense 0.302 benign 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 TOPMed,gnomAD rs1321093882 Xp11.23 X 48974266T> C null Q R 773 773 missense 0.697 possibly damaging 0.06 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371634362 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48974254C> T null R Q 777 777 missense 0.063 benign 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 Ensembl rs868988759 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48974255G> A null R W 777 777 missense 0.758 possibly damaging 0.0 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC rs782543126 Xp11.23 X 48974249T> C null S G 779 779 missense 0.58 possibly damaging 0.09 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,TOPMed,gnomAD rs782501117 Xp11.23 X 48974237C> G null V L 783 783 missense 0.003 benign 0.12 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs782501117 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. Xp11.23 X 48974237C> T null V M 783 783 missense 0.218 benign 0.05 tolerated 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557059758 Xp11.23 X 48974228G> A null P S 786 786 missense 0.041 benign 0.02 deleterious 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557059754 Xp11.23 X 48974221G> A null P L 788 788 missense 0.182 benign 0.01 deleterious - low confidence 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 gnomAD rs1557059752 Xp11.23 X 48974213C> T null E K 791 791 missense 0.047 benign 0.04 deleterious - low confidence 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ExAC,gnomAD rs781824440 Xp11.23 X 48974210G> A null P S 792 792 missense 0.009 benign 0.02 deleterious - low confidence 0 A0A087WT45 GRIPAP1 GRIP1-associated protein 1 ESP,ExAC,TOPMed,gnomAD rs145488775 Xp11.23 X 48974201T> C null T A 795 795 missense 0.0 benign 0.83 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs779963801 16q23.1 16 74421266A> G null L P 2 2 missense 0.917 probably damaging 0.03 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1420810335 16q23.1 16 74421267G> C null L V 2 2 missense 0.189 benign 0.01 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs745814530 16q23.1 16 74421263T> G null H P 3 3 missense 0.469 possibly damaging 0.09 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs755897378 16q23.1 16 74421264G> A null H Y 3 3 missense 0.362 benign 0.01 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs370649303 16q23.1 16 74421254G> T null T N 6 6 missense 0.037 benign 0.16 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,NCI-TCGA,TOPMed,gnomAD rs201388061 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74421251G> A null S F 7 7 2.0E-4 missense 0.991 probably damaging 0.15 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs756726066 16q23.1 16 74421252A> G null S P 7 7 missense 0.986 probably damaging 0.2 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1307073494 16q23.1 16 74421248G> A null P L 8 8 missense 0.011 benign 0.17 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ESP,ExAC,TOPMed rs148144594 16q23.1 16 74421242C> A null R L 10 10 0.003794 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ESP,ExAC,TOPMed rs148144594 16q23.1 16 74421242C> T null R Q 10 10 0.003794 missense 0.014 benign 0.29 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,NCI-TCGA,gnomAD rs763795298 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:435 16q23.1 16 74421243G> A null R W 10 10 missense 0.0 benign 0.13 tolerated - low confidence 1 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1353149485 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74421240C> T null G R 11 11 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147077893 16q23.1 16 74421239C> A null G V 11 11 0.004393 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1313829842 16q23.1 16 74421221A> G null L P 17 17 missense 0.873 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs766902784 16q23.1 16 74421215G> A null A V 19 19 missense 0.006 benign 0.09 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs760892043 16q23.1 16 74421213G> C null L V 20 20 missense 0.091 benign 0.07 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1474897264 16q23.1 16 74421210G> A null L F 21 21 missense 0.994 probably damaging 0.06 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs772459382 16q23.1 16 74421209A> T null L H 21 21 missense 0.997 probably damaging 0.02 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs140121789 16q23.1 16 74421201T> C null T A 24 24 missense 0.015 benign 0.47 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1258921820 16q23.1 16 74421196C> T null W * 25 25 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs376319809 16q23.1 16 74421194G> A null A V 26 26 missense 0.453 possibly damaging 0.04 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1487124880 16q23.1 16 74421189C> A null V L 28 28 missense 0.148 benign 0.07 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1487124880 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney cosmic_study:416 16q23.1 16 74421189C> T null V M 28 28 missense 0.243 benign 0.26 tolerated - low confidence 1 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1213653584 16q23.1 16 74421185C> T null W * 29 29 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs781058634 16q23.1 16 74421184C> A null W C 29 29 missense 0.794 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1274510525 16q23.1 16 74421183G> C null P A 30 30 missense 0.121 benign 0.1 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1274510525 16q23.1 16 74421183G> A null P S 30 30 missense 0.011 benign 0.12 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs746571874 16q23.1 16 74421179G> A null P L 31 31 missense 0.006 benign 0.94 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs757206834 16q23.1 16 74421180G> A null P S 31 31 missense 0.173 benign 0.67 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1293147493 16q23.1 16 74421177G> A null Q * 32 32 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1383744435 16q23.1 16 74421176T> A null Q L 32 32 missense 0.544 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1325078919 16q23.1 16 74421173A> T null L Q 33 33 missense 0.684 possibly damaging 0.07 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs757868065 16q23.1 16 74421171G> A null Q * 34 34 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs764888803 16q23.1 16 74421168C> T null E K 35 35 missense 0.009 benign 0.16 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1372775201 16q23.1 16 74421165G> C null Q E 36 36 missense 0.001 benign 0.39 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371118465 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74421161G> A null A V 37 37 missense 0.009 benign 0.4 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs766840033 16q23.1 16 74421158G> A null P L 38 38 missense 0.007 benign 0.14 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs766840033 16q23.1 16 74421158G> T null P Q 38 38 missense 0.74 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs543096884 16q23.1 16 74421155A> T null M K 39 39 0.001398 missense 0.031 benign 0.11 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs767727885 16q23.1 16 74421152G> A null A V 40 40 missense 0.036 benign 0.25 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs774439154 16q23.1 16 74421150C> T null G R 41 41 missense 0.003 benign 0.38 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1349931612 16q23.1 16 74420584T> C null R G 45 45 missense 0.173 benign 0.22 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1312522600 16q23.1 16 74420576C> G null E D 47 47 missense 0.962 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1013782664 16q23.1 16 74420574C> T null S N 48 48 missense 0.39 benign 0.16 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1275331189 16q23.1 16 74420566G> A null L F 51 51 missense 0.853 possibly damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1225240505 16q23.1 16 74420554G> A null H Y 55 55 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1336219782 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74420548G> A null R C 57 57 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1238271241 16q23.1 16 74420547C> T null R H 57 57 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1238271241 16q23.1 16 74420547C> A null R L 57 57 missense 0.957 probably damaging 0.05 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1254994146 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74420542G> A null R C 59 59 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1483989609 16q23.1 16 74420541C> T null R H 59 59 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1217587968 16q23.1 16 74420534C> T null W * 61 61 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1217587968 16q23.1 16 74420534C> A null W C 61 61 missense 0.51 possibly damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1426213147 16q23.1 16 74420533C> T null V I 62 62 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1169004842 16q23.1 16 74420526G> A null P L 64 64 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1326940441 16q23.1 16 74420520G> A null A V 66 66 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1363279226 16q23.1 16 74420511A> G null M T 69 69 missense 0.843 possibly damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1393347017 16q23.1 16 74420508C> T null R Q 70 70 missense 0.007 benign 1.0 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1293400946 16q23.1 16 74420509G> A null R W 70 70 missense 0.854 possibly damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1335349410 16q23.1 16 74418297T> C null D G 73 73 missense 0.921 probably damaging 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1383500675 16q23.1 16 74418294C> T null W * 74 74 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1222557999 16q23.1 16 74418293C> G null W C 74 74 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1252636597 16q23.1 16 74418295A> G null W R 74 74 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1309650769 16q23.1 16 74418285C> G null S T 77 77 missense 0.228 benign 0.11 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1457276846 16q23.1 16 74418283G> T null L M 78 78 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1457276846 16q23.1 16 74418283G> C null L V 78 78 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1416557817 16q23.1 16 74418280C> T null A T 79 79 missense 0.997 probably damaging 0.05 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1222052580 16q23.1 16 74418277G> C null Q E 80 80 missense 0.012 benign 0.71 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1308401681 16q23.1 16 74418273A> C null L R 81 81 missense 0.617 possibly damaging 0.03 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1490861771 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74418270G> A null A V 82 82 missense 0.628 possibly damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1475987485 16q23.1 16 74418268G> T null Q K 83 83 missense 0.003 benign 0.38 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1237835795 16q23.1 16 74418265C> T null A T 84 84 missense 0.015 benign 0.48 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs553774743 16q23.1 16 74418261C> T null R K 85 85 2.0E-4 missense 0.167 benign 0.27 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs553774743 16q23.1 16 74418261C> G null R T 85 85 2.0E-4 missense 0.452 possibly damaging 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1178848635 16q23.1 16 74418259C> A null A S 86 86 missense 0.091 benign 0.21 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs754190860 16q23.1 16 74418256C> A null A S 87 87 missense 0.014 benign 0.29 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs754190860 16q23.1 16 74418256C> T null A T 87 87 missense 0.043 benign 0.14 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1286211049 16q23.1 16 74418252A> T null L H 88 88 missense 0.052 benign 0.56 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1286211049 16q23.1 16 74418252A> G null L P 88 88 missense 0.022 benign 0.29 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1439393208 16q23.1 16 74418247C> T null G R 90 90 missense 0.22 benign 0.14 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,TOPMed,gnomAD rs540258921 16q23.1 16 74418243A> G null I T 91 91 0.03554 missense 0.0 benign 0.6 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs780494817 16q23.1 16 74418240G> A null P L 92 92 missense 0.001 benign 0.33 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1405461573 16q23.1 16 74418238T> C null T A 93 93 missense 0.0 benign 1.0 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1272626481 16q23.1 16 74418237G> A null T I 93 93 missense 0.029 benign 0.12 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs756497555 16q23.1 16 74418234G> A null P L 94 94 missense 0.021 benign 0.06 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,gnomAD rs555823564 16q23.1 16 74418225G> A null A V 97 97 2.0E-4 missense 0.015 benign 0.21 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1323082073 16q23.1 16 74418222G> A null S F 98 98 missense 0.474 possibly damaging 0.06 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1393014218 16q23.1 16 74418220C> G null G R 99 99 missense 0.003 benign 0.62 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1393014218 16q23.1 16 74418220C> T null G S 99 99 missense 0.05 benign 0.82 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs764273418 16q23.1 16 74418216A> G null L P 100 100 missense 0.0 benign 0.55 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs763204616 16q23.1 16 74418211G> A null R C 102 102 missense 0.429 benign 0.18 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,NCI-TCGA,TOPMed,gnomAD rs775538259 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74418210C> T null R H 102 102 missense 0.001 benign 0.78 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs775538259 16q23.1 16 74418210C> A null R L 102 102 missense 0.054 benign 0.67 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs775538259 16q23.1 16 74418210C> G null R P 102 102 missense 0.152 benign 0.28 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1166996136 16q23.1 16 74418204A> G null L P 104 104 missense 0.001 benign 0.4 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1474275453 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74418196C> A null G C 107 107 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs770739698 16q23.1 16 74418192C> T null W * 108 108 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1189054940 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74418186A> G null M T 110 110 missense 0.001 benign 0.28 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1272429688 16q23.1 16 74418187T> C null M V 110 110 missense 0.0 benign 1.0 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs773141490 16q23.1 16 74418172C> T null A T 115 115 missense 0.05 benign 0.59 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs200151700 16q23.1 16 74418171G> A null A V 115 115 missense 0.0 benign 0.34 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs768007613 16q23.1 16 74418168C> G null G A 116 116 missense 0.034 benign 0.1 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs748991714 16q23.1 16 74418162G> A null A V 118 118 missense 0.001 benign 0.26 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs756550715 16q23.1 16 74418154C> A null V F 121 121 missense 0.149 benign 0.54 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs751630568 16q23.1 16 74418138A> G null L P 126 126 missense 0.83 possibly damaging 0.19 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs752980754 16q23.1 16 74418134C> T null W * 127 127 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs762896770 16q23.1 16 74418135C> G null W S 127 127 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1407858002 16q23.1 16 74418130C> T null A T 129 129 missense 0.075 benign 0.38 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs760533194 16q23.1 16 74418123C> T null G E 131 131 missense 0.902 possibly damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1280131837 16q23.1 16 74418121G> A null Q * 132 132 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs199857045 16q23.1 16 74418117C> G null R P 133 133 missense 0.274 benign 0.2 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs199857045 16q23.1 16 74418117C> T null R Q 133 133 missense 0.001 benign 0.31 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs772035518 16q23.1 16 74418118G> A null R W 133 133 missense 0.0 benign 0.2 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs768225501 16q23.1 16 74418114T> C null Y C 134 134 missense 0.089 benign 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146242972 16q23.1 16 74418105G> C null A G 137 137 5.99E-4 missense 0.003 benign 0.44 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs376806221 16q23.1 16 74418106C> A null A S 137 137 missense 0.003 benign 0.76 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs376806221 16q23.1 16 74418106C> T null A T 137 137 missense 0.001 benign 0.6 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146242972 16q23.1 16 74418105G> A null A V 137 137 5.99E-4 missense 0.049 benign 0.32 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1347648416 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74418102G> A null A V 138 138 missense 0.009 benign 0.1 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs781668403 16q23.1 16 74418099C> T null G E 139 139 missense 0.736 possibly damaging 0.23 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1367607575 16q23.1 16 74418096T> A null E V 140 140 missense 0.006 benign 0.05 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B Ensembl rs1555503698 16q23.1 16 74418094A> G null C R 141 141 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1193824182 16q23.1 16 74418091C> T null A T 142 142 missense 0.026 benign 0.22 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1439550694 16q23.1 16 74418088G> C null R G 143 143 missense 0.0 benign 0.4 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,NCI-TCGA,TOPMed,gnomAD rs757523674 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 16q23.1 16 74418087C> T null R H 143 143 missense 0.0 benign 0.28 tolerated 1 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs757523674 16q23.1 16 74418087C> G null R P 143 143 missense 0.0 benign 0.33 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed rs747577194 16q23.1 16 74418085T> G null N H 144 144 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1433828317 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74418082C> T null A T 145 145 missense 0.489 possibly damaging 0.12 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs758512146 16q23.1 16 74418078G> A null T I 146 146 missense 0.523 possibly damaging 0.11 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1178077414 16q23.1 16 74418076A> C null C G 147 147 missense 0.918 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1178077414 16q23.1 16 74418076A> G null C R 147 147 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs201240581 16q23.1 16 74418072G> T null T N 148 148 missense 0.01 benign 0.52 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs201240581 16q23.1 16 74418072G> C null T S 148 148 missense 0.019 benign 0.85 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs754016070 16q23.1 16 74418067A> G null Y H 150 150 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs151079980 16q23.1 16 74418063G> T null T K 151 151 missense 0.893 possibly damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs151079980 16q23.1 16 74418063G> A null T M 151 151 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs151079980 16q23.1 16 74418063G> C null T R 151 151 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs770488663 16q23.1 16 74413672A> G null V A 154 154 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs770488663 16q23.1 16 74413672A> C null V G 154 154 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs375757285 16q23.1 16 74413673C> G null V L 154 154 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375757285 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74413673C> T null V M 154 154 missense 1.0 probably damaging 0.04 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs374164387 16q23.1 16 74413668C> T null W * 155 155 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1187156519 16q23.1 16 74413670A> G null W R 155 155 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1196172455 16q23.1 16 74413669C> G null W S 155 155 missense 1.0 probably damaging 0.04 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs773414918 16q23.1 16 74413667C> T null A T 156 156 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs772439400 16q23.1 16 74413658T> A null S C 159 159 missense 0.896 possibly damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1440364796 16q23.1 16 74413649C> T null G S 162 162 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B Ensembl rs1567431604 16q23.1 16 74413644A> C null C W 163 163 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs748673077 16q23.1 16 74413642C> G null G A 164 164 missense 0.778 possibly damaging 0.36 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs58016779 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:21720365,cosmic_study:331 16q23.1 16 74413639C> T null R Q 165 165 7.99E-4 missense 0.007 benign 0.2 tolerated 1 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs202025053 16q23.1 16 74413640G> A null R W 165 165 missense 0.003 benign 0.06 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs749364497 16q23.1 16 74413637G> A null H Y 166 166 missense 0.917 probably damaging 0.02 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs780380563 16q23.1 16 74413633A> G null L P 167 167 missense 0.022 benign 0.26 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs751412604 16q23.1 16 74413629G> C null C W 168 168 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1440210538 16q23.1 16 74413627G> C null S C 169 169 missense 0.906 possibly damaging 0.1 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1440210538 16q23.1 16 74413627G> A null S F 169 169 missense 0.015 benign 0.4 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs758220398 16q23.1 16 74413624G> T null A E 170 170 missense 0.009 benign 1.0 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs141430693 16q23.1 16 74413625C> T null A T 170 170 missense 0.108 benign 0.55 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs758220398 16q23.1 16 74413624G> A null A V 170 170 missense 0.001 benign 0.33 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs2650549 16q23.1 16 74413616T> C null T A 173 173 missense 0.0 benign 1.0 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1168860357 16q23.1 16 74413615G> A null T I 173 173 missense 0.011 benign 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1167171312 16q23.1 16 74413613C> T null A T 174 174 missense 0.019 benign 0.55 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs201069655 16q23.1 16 74413612G> A null A V 174 174 missense 0.003 benign 0.28 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs760272968 16q23.1 16 74413610T> A null I L 175 175 missense 0.0 benign 0.7 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B Ensembl rs894625328 16q23.1 16 74413609A> G null I T 175 175 missense 0.007 benign 0.44 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs760272968 16q23.1 16 74413610T> C null I V 175 175 missense 0.02 benign 0.59 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1434540667 16q23.1 16 74413607C> T null E K 176 176 missense 0.676 possibly damaging 0.08 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs772868109 16q23.1 16 74413606T> A null E V 176 176 missense 0.95 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs762095353 16q23.1 16 74413604C> G null A P 177 177 missense 0.958 probably damaging 0.05 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs762095353 16q23.1 16 74413604C> T null A T 177 177 missense 0.817 possibly damaging 0.12 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B Ensembl rs867082815 16q23.1 16 74413601A> C null F V 178 178 missense 0.849 possibly damaging 0.09 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1480136921 16q23.1 16 74413598C> G null V L 179 179 missense 0.742 possibly damaging 0.02 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs769136694 16q23.1 16 74413591G> T null A D 181 181 missense 0.964 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs769136694 16q23.1 16 74413591G> A null A V 181 181 missense 0.258 benign 0.17 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs144215040 16q23.1 16 74413587G> C null Y * 182 182 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1342667883 16q23.1 16 74413587_74413588insC T null Y * 182 182 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1302523998 16q23.1 16 74413589A> C null Y D 182 182 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1302523998 16q23.1 16 74413589A> T null Y N 182 182 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs746100454 16q23.1 16 74413585G> C null S C 183 183 missense 0.849 possibly damaging 0.16 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs773506286 16q23.1 16 74413157C> T null G S 186 186 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs768574025 16q23.1 16 74413154T> G null N H 187 187 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1161132376 16q23.1 16 74413149C> T null W * 188 188 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1189249378 16q23.1 16 74413151A> G null W R 188 188 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1237856324 16q23.1 16 74413147T> G null E A 189 189 missense 0.716 possibly damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1473630019 16q23.1 16 74413148C> T null E K 189 189 missense 0.133 benign 0.08 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs138182962 16q23.1 16 74413140G> C null N K 191 191 missense 0.806 possibly damaging 0.08 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1210710403 16q23.1 16 74413138C> T null G E 192 192 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs745410335 16q23.1 16 74413139C> G null G R 192 192 missense 0.677 possibly damaging 0.02 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs745410335 16q23.1 16 74413139C> T null G R 192 192 missense 0.677 possibly damaging 0.02 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs780710142 16q23.1 16 74413132G> T null T K 194 194 missense 0.549 possibly damaging 0.79 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs780710142 16q23.1 16 74413132G> C null T R 194 194 missense 0.735 possibly damaging 0.42 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1358827890 16q23.1 16 74413129A> G null I T 195 195 missense 0.528 possibly damaging 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs374101073 16q23.1 16 74413130T> C null I V 195 195 missense 0.018 benign 0.54 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs142385474 16q23.1 16 74413127T> G null I L 196 196 missense 0.003 benign 0.22 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs142385474 16q23.1 16 74413127T> C null I V 196 196 missense 0.0 benign 1.0 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1244361176 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74413124G> A null P S 197 197 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1435146470 16q23.1 16 74413119A> T null Y * 198 198 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs369764401 16q23.1 16 74413120T> C null Y C 198 198 missense 1.0 probably damaging 0.05 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs147098706 16q23.1 16 74413115T> A null K * 200 200 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs147098706 16q23.1 16 74413115T> C null K E 200 200 missense 0.857 possibly damaging 0.16 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC rs754361155 16q23.1 16 74413112C> G null G R 201 201 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1348789494 16q23.1 16 74413111C> A null G V 201 201 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs760766891 16q23.1 16 74413109C> A null A S 202 202 missense 0.023 benign 0.26 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs760766891 16q23.1 16 74413109C> T null A T 202 202 missense 0.037 benign 0.31 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs141734031 16q23.1 16 74413108G> A null A V 202 202 missense 0.311 benign 0.39 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs772322652 16q23.1 16 74413104C> T null W * 203 203 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs772322652 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74413104C> G null W C 203 203 missense 0.965 probably damaging 0.02 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1447544315 16q23.1 16 74413106A> G null W R 203 203 missense 0.901 possibly damaging 0.03 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs559000520 16q23.1 16 74413103A> G null C R 204 204 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,NCI-TCGA,TOPMed,gnomAD rs775322863 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74413099G> A null S L 205 205 missense 0.984 probably damaging 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs775322863 16q23.1 16 74413099G> C null S W 205 205 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs781051201 16q23.1 16 74413097G> A null L F 206 206 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1204945503 16q23.1 16 74413092G> T null C * 207 207 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs770433083 16q23.1 16 74413093C> T null C Y 207 207 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs201366206 16q23.1 16 74413090G> A null T I 208 208 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs201366206 16q23.1 16 74413090G> T null T K 208 208 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1412381319 16q23.1 16 74413081A> T null V D 211 211 missense 0.864 possibly damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs753045585 16q23.1 16 74413078G> A null S L 212 212 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1272628142 16q23.1 16 74413076C> G null G R 213 213 missense 0.995 probably damaging 0.08 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs754396170 16q23.1 16 74413064C> G null A P 217 217 missense 0.967 probably damaging 0.04 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs754396170 16q23.1 16 74413064C> T null A T 217 217 missense 0.758 possibly damaging 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs766985997 16q23.1 16 74413059C> T null W * 218 218 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs750507610 16q23.1 16 74413053A> C null H Q 220 220 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1169063140 16q23.1 16 74413054T> C null H R 220 220 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs373583370 16q23.1 16 74413052C> A null A S 221 221 missense 0.407 benign 0.48 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs762125505 16q23.1 16 74413048C> G null G A 222 222 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs762125505 16q23.1 16 74413048C> A null G V 222 222 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs759261618 16q23.1 16 74413045C> T null G E 223 223 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1334205044 16q23.1 16 74413046C> G null G R 223 223 missense 1.0 probably damaging 0.04 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs759261618 16q23.1 16 74413045C> A null G V 223 223 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs770844036 16q23.1 16 74413039C> T null C Y 225 225 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1318493073 16q23.1 16 74412880T> G null E A 226 226 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1432922463 16q23.1 16 74412878C> A null V F 227 227 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1432922463 16q23.1 16 74412878C> T null V I 227 227 missense 0.671 possibly damaging 0.26 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1390939606 16q23.1 16 74412874G> A null P L 228 228 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1289598148 16q23.1 16 74412870C> G null R S 229 229 missense 0.894 possibly damaging 0.05 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1457653375 16q23.1 16 74412869T> C null N D 230 230 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs770287525 16q23.1 16 74412865G> T null P H 231 231 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,NCI-TCGA,TOPMed,gnomAD rs770287525 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74412865G> A null P L 231 231 missense 0.957 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs746214844 16q23.1 16 74412862C> T null C Y 232 232 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,NCI-TCGA,gnomAD rs781752642 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 16q23.1 16 74412860G> A null R C 233 233 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139377062 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74412859C> T null R H 233 233 missense 1.0 probably damaging 0.06 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs139377062 16q23.1 16 74412859C> A null R L 233 233 missense 1.0 probably damaging 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1187252928 16q23.1 16 74412855C> T null M I 234 234 missense 0.02 benign 0.1 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1450731065 16q23.1 16 74412854T> C null S G 235 235 missense 0.948 probably damaging 0.03 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1178899588 16q23.1 16 74412853C> T null S N 235 235 missense 0.599 possibly damaging 0.19 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1261828981 16q23.1 16 74412843G> T null N K 238 238 missense 0.757 possibly damaging 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs777864675 16q23.1 16 74412841T> C null H R 239 239 missense 0.754 possibly damaging 0.27 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,NCI-TCGA,TOPMed,gnomAD rs779045021 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74412836G> A null R C 241 241 missense 0.899 possibly damaging 0.14 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs146909850 16q23.1 16 74412835C> T null R H 241 241 missense 0.006 benign 1.0 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs750159393 16q23.1 16 74412833G> A null L F 242 242 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1322674397 16q23.1 16 74412832A> G null L P 242 242 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC rs761685092 16q23.1 16 74412827T> G null I L 244 244 missense 0.14 benign 0.22 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs769557837 16q23.1 16 74412825G> C null I M 244 244 missense 0.822 possibly damaging 0.22 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs763709967 16q23.1 16 74412826A> C null I S 244 244 missense 0.407 benign 0.17 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs763709967 16q23.1 16 74412826A> G null I T 244 244 missense 0.034 benign 0.19 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs771288834 16q23.1 16 74412824T> A null S C 245 245 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs771288834 16q23.1 16 74412824T> C null S G 245 245 missense 0.907 possibly damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs772148108 16q23.1 16 74412823C> A null S I 245 245 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs772148108 16q23.1 16 74412823C> T null S N 245 245 missense 0.957 probably damaging 0.05 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs771288834 16q23.1 16 74412824T> G null S R 245 245 missense 0.979 probably damaging 0.02 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs772148108 16q23.1 16 74412823C> G null S T 245 245 missense 0.445 benign 0.09 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs779151892 16q23.1 16 74412820G> A null T I 246 246 missense 0.982 probably damaging 0.1 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs748209247 16q23.1 16 74412821T> G null T P 246 246 missense 0.988 probably damaging 0.1 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1425641164 16q23.1 16 74412815G> C null H D 248 248 missense 0.549 possibly damaging 0.02 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC rs755121929 16q23.1 16 74412814T> G null H P 248 248 missense 0.804 possibly damaging 0.12 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1425641164 16q23.1 16 74412815G> A null H Y 248 248 missense 0.804 possibly damaging 0.06 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC rs754049450 16q23.1 16 74412809G> A null H Y 250 250 missense 0.743 possibly damaging 0.04 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1252801788 16q23.1 16 74412802G> A null P L 252 252 missense 0.756 possibly damaging 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs780870201 16q23.1 16 74412803G> T null P T 252 252 missense 0.57 possibly damaging 0.11 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,gnomAD rs751456078 16q23.1 16 74412800G> A null P S 253 253 missense 0.994 probably damaging 0.15 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199715339 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74412790G> A null T M 256 256 missense 1.0 probably damaging 0.05 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ESP,ExAC,TOPMed,gnomAD rs199715339 16q23.1 16 74412790G> C null T R 256 256 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs759144388 16q23.1 16 74412787C> T null G D 257 257 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs761038244 16q23.1 16 74412781T> C null Y C 259 259 missense 0.946 probably damaging 0.02 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs771216695 16q23.1 16 74412782A> G null Y H 259 259 missense 0.929 probably damaging 0.05 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs761038244 16q23.1 16 74412781T> G null Y S 259 259 missense 0.854 possibly damaging 0.11 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1361399237 16q23.1 16 74412773C> T null V M 262 262 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed rs1405503891 16q23.1 16 74412242C> G null R S 263 263 missense 0.977 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1424555987 16q23.1 16 74412239G> T null C * 264 264 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1410547059 16q23.1 16 74412240C> A null C F 264 264 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,gnomAD rs545454362 16q23.1 16 74412229A> C null C G 268 268 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,gnomAD rs545454362 16q23.1 16 74412229A> G null C R 268 268 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1481575710 16q23.1 16 74412226C> T null V M 269 269 missense 0.915 probably damaging 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1482298339 16q23.1 16 74412219C> T null G D 271 271 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs778849822 16q23.1 16 74412220C> T null G S 271 271 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1205855078 16q23.1 16 74412216C> T null R Q 272 272 missense 0.115 benign 0.08 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,NCI-TCGA,TOPMed,gnomAD rs754501534 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74412217G> A null R W 272 272 missense 0.949 probably damaging 0.06 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs753379322 cosmic curated [Cosmic]: breast cosmic_study:414 16q23.1 16 74412210C> T null R Q 274 274 missense 0.441 benign 0.02 deleterious 1 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1441327943 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q23.1 16 74412211G> A null R W 274 274 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs766000007 16q23.1 16 74412206C> G null E D 275 275 missense 0.763 possibly damaging 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs766000007 16q23.1 16 74412206C> A null E D 275 275 missense 0.763 possibly damaging 0.07 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1323859769 16q23.1 16 74412205C> T null E K 276 276 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs573167309 16q23.1 16 74412195G> T null S * 279 279 3.99E-4 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,TOPMed,gnomAD rs573167309 16q23.1 16 74412195G> A null S L 279 279 3.99E-4 missense 0.037 benign 0.05 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1447290804 16q23.1 16 74412192C> T null C Y 280 280 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1334854814 16q23.1 16 74412190C> T null V I 281 281 missense 0.029 benign 0.34 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs767875076 16q23.1 16 74412181T> C null I V 284 284 missense 0.001 benign 1.0 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs762109492 16q23.1 16 74412178C> T null G S 285 285 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs774779300 16q23.1 16 74412173G> T null Y * 286 286 stop gained 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1178263140 16q23.1 16 74412171C> T null G R 287 287 missense 0.173 benign 0.02 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1178263140 16q23.1 16 74412171C> A null G W 287 287 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1240689967 16q23.1 16 74412168C> A null E * 288 288 missense 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B Ensembl rs1567429717 16q23.1 16 74412167T> C null E G 288 288 missense 0.0 benign 1.0 tolerated 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1204971196 16q23.1 16 74412164G> A null P L 289 289 missense 0.15 benign 0.01 deleterious 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1461394622 16q23.1 16 74412158A> T null V E 291 291 missense 0.062 benign 0.03 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1206444590 16q23.1 16 74412155G> A null P L 292 292 missense 0.048 benign 0.05 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1285452514 16q23.1 16 74411775G> A null P S 293 293 missense 0.003 benign 0.24 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B 1000Genomes,ExAC,gnomAD rs567413882 16q23.1 16 74411771C> T null R K 294 294 2.0E-4 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs763537415 16q23.1 16 74411770C> A null R S 294 294 missense 0.07 benign 0.0 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B ExAC,TOPMed,gnomAD rs763537415 16q23.1 16 74411770C> G null R S 294 294 missense 0.07 benign 0.0 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1393702569 16q23.1 16 74411767G> T null C * 295 295 missense 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1327368026 16q23.1 16 74411768C> A null C F 295 295 missense 0.131 benign 0.0 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B TOPMed,gnomAD rs1327368026 16q23.1 16 74411768C> T null C Y 295 295 missense 0.222 benign 0.0 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1396580653 16q23.1 16 74411765A> G null I T 296 296 missense 0.057 benign 0.41 tolerated - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1301809042 16q23.1 16 74411753G> A null T I 300 300 missense 0.936 probably damaging 0.0 deleterious - low confidence 0 A0A087WT46 CLEC18B C-type lectin domain family 18 member B gnomAD rs1467797766 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 16q23.1 16 74411742A> G null * R 304 304 missense 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,TOPMed,gnomAD rs770804434 1q32.1 1 201417789G> A null P L 2 2 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed,gnomAD rs1412058623 1q32.1 1 201415256T> C null Q R 5 5 missense 0.015 benign 0.07 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1364161527 1q32.1 1 201415243C> G null K N 9 9 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1162259668 1q32.1 1 201415240G> C null I M 10 10 missense 0.99 probably damaging 0.62 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,TOPMed,gnomAD rs771077280 1q32.1 1 201415230G> A null R C 14 14 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs747286830 1q32.1 1 201415229C> T null R H 14 14 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,gnomAD rs201837726 1q32.1 1 201414647G> T null S R 20 20 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1294933494 1q32.1 1 201414645A> G null L P 21 21 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs745403328 1q32.1 1 201414627T> C null K R 27 27 missense 0.978 probably damaging 0.32 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed rs1454856567 1q32.1 1 201414625C> T null E K 28 28 missense 0.991 probably damaging 0.41 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed rs1201146437 1q32.1 1 201414622A> C null C G 29 29 missense 0.0 benign 0.37 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle Ensembl rs868626401 1q32.1 1 201414617C> T null W * 30 30 stop gained 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1321908492 1q32.1 1 201414609T> C null E G 33 33 missense 0.5 possibly damaging 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373597502 1q32.1 1 201414610C> T null E K 33 33 2.0E-4 missense 0.331 benign 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs199605300 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:413,cosmic_study:417 1q32.1 1 201414604C> T null E K 35 35 missense 0.021 benign 0.56 tolerated 1 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1173154951 1q32.1 1 201414601C> T null E K 36 36 missense 0.0 benign 0.09 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,TOPMed,gnomAD rs763864468 1q32.1 1 201414598G> A null R C 37 37 missense 0.503 possibly damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ESP,ExAC,TOPMed,gnomAD rs150769331 1q32.1 1 201414597C> T null R H 37 37 missense 0.185 benign 0.02 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,TOPMed,gnomAD rs763864468 1q32.1 1 201414598G> T null R S 37 37 missense 0.037 benign 0.05 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs765186576 1q32.1 1 201414595C> T null E K 38 38 missense 0.054 benign 0.48 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201145849 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 201414580G> A null R C 43 43 3.99E-4 missense 0.625 possibly damaging 0.02 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs182471625 cosmic curated [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22722829,cosmic_study:401 1q32.1 1 201414579C> T null R H 43 43 3.99E-4 missense 0.213 benign 0.02 deleterious 1 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,TOPMed,gnomAD rs201145849 1q32.1 1 201414580G> T null R S 43 43 3.99E-4 missense 0.094 benign 0.17 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1043296628 1q32.1 1 201414571C> T null A T 46 46 missense 0.011 benign 0.14 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,TOPMed,gnomAD rs774762591 1q32.1 1 201414568C> T null E K 47 47 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142145258 1q32.1 1 201414565G> A null R C 48 48 5.99E-4 missense 0.891 possibly damaging 0.02 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142145258 1q32.1 1 201414565G> C null R G 48 48 5.99E-4 missense 0.418 benign 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ESP,ExAC,TOPMed,gnomAD rs200415229 1q32.1 1 201414564C> T null R H 48 48 missense 0.647 possibly damaging 0.56 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed rs1488949215 1q32.1 1 201414562T> G null I L 49 49 missense 0.015 benign 0.15 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed rs1211814397 1q32.1 1 201414560G> C null I M 49 49 missense 0.295 benign 0.04 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1365395098 1q32.1 1 201414561A> T null I N 49 49 missense 0.086 benign 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ESP,ExAC,TOPMed,gnomAD rs372956100 1q32.1 1 201414555G> T null T K 51 51 missense 0.015 benign 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ESP,ExAC,TOPMed,gnomAD rs372956100 1q32.1 1 201414555G> A null T M 51 51 missense 0.188 benign 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs756932579 1q32.1 1 201414553G> C null L V 52 52 missense 0.007 benign 0.07 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,TOPMed,gnomAD rs545684730 1q32.1 1 201414544G> A null R C 55 55 5.99E-4 missense 0.258 benign 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,TOPMed,gnomAD rs545684730 1q32.1 1 201414544G> C null R G 55 55 5.99E-4 missense 0.0 benign 0.12 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs747617955 1q32.1 1 201414543C> T null R H 55 55 missense 0.0 benign 0.04 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,TOPMed,gnomAD rs545684730 1q32.1 1 201414544G> T null R S 55 55 5.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs778146104 1q32.1 1 201414541C> T null G S 56 56 missense 0.091 benign 0.12 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed,gnomAD rs1390950239 1q32.1 1 201414520G> T null Q K 63 63 missense 0.0 benign 0.06 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1435767838 1q32.1 1 201413121C> G null D H 64 64 missense 0.269 benign 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed rs1411630180 1q32.1 1 201413118G> C null L V 65 65 missense 0.957 probably damaging 0.03 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,TOPMed,gnomAD rs2296695 1q32.1 1 201413112G> C null R G 67 67 2.0E-4 missense 0.327 benign 0.02 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1326534909 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 1q32.1 1 201413111C> T null R Q 67 67 missense 0.007 benign 0.16 tolerated 1 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs2296695 cosmic curated [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23525077,cosmic_study:464 1q32.1 1 201413112G> A null R W 67 67 2.0E-4 missense 0.861 possibly damaging 0.0 deleterious 1 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs771706605 1q32.1 1 201413108T> C null E G 68 68 missense 0.223 benign 0.02 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs12354200 1q32.1 1 201413100C> T null A T 71 71 0.002396 missense 0.018 benign 0.25 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed,gnomAD rs1055611269 1q32.1 1 201413094C> T null V M 73 73 missense 0.547 possibly damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed,gnomAD rs956135288 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 201413089C> A null E D 74 74 missense 0.0 benign 1.0 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed,gnomAD rs1324527259 1q32.1 1 201413080A> T null D E 77 77 missense 0.973 probably damaging 0.17 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle Ensembl rs867895141 1q32.1 1 201413082C> T null D N 77 77 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1463076821 1q32.1 1 201413078T> G null E A 78 78 missense 0.986 probably damaging 0.02 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1159048123 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 1q32.1 1 201413073G> A null R * 80 80 stop gained 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1159048123 1q32.1 1 201413073G> C null R G 80 80 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs202218355 1q32.1 1 201413072C> T null R Q 80 80 missense 0.991 probably damaging 0.04 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1189773154 1q32.1 1 201413067C> T null D N 82 82 missense 0.984 probably damaging 0.07 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,TOPMed,gnomAD rs758682000 1q32.1 1 201413057G> A null A V 85 85 missense 0.006 benign 0.53 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed rs1319533737 1q32.1 1 201413055T> C null K E 86 86 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1463134999 1q32.1 1 201413048A> T null L H 88 88 missense 0.281 benign 0.13 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed rs1220244602 1q32.1 1 201413046G> A null H Y 89 89 missense 0.281 benign 0.03 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs753020536 1q32.1 1 201413036C> G null R T 92 92 missense 0.985 probably damaging 0.18 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs773865502 1q32.1 1 201411532A> G null I T 94 94 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed,gnomAD rs937590965 1q32.1 1 201411530T> G null K Q 95 95 missense 0.031 benign 0.22 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs751485751 1q32.1 1 201411527C> T null D N 96 96 missense 0.983 probably damaging 0.06 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed,gnomAD rs1389159109 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 201411504G> T null D E 103 103 missense 0.903 possibly damaging 0.28 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs562023279 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 201411500G> A null R C 105 105 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,TOPMed,gnomAD rs562023279 1q32.1 1 201411500G> C null R G 105 105 2.0E-4 missense 0.991 probably damaging 0.16 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs769682842 1q32.1 1 201411499C> T null R H 105 105 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,TOPMed,gnomAD rs200824628 1q32.1 1 201411485G> A null R C 110 110 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,NCI-TCGA,TOPMed,gnomAD rs771001056 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 1q32.1 1 201411484C> T null R H 110 110 missense 0.996 probably damaging 0.0 deleterious 1 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,TOPMed,gnomAD rs771001056 1q32.1 1 201411484C> A null R L 110 110 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed,gnomAD rs1023922407 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 201411481G> A null P L 111 111 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed rs1387100807 1q32.1 1 201411478G> T null P H 112 112 missense 0.369 benign 0.07 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs763010110 1q32.1 1 201411473G> A null R C 114 114 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,TOPMed,gnomAD rs755140495 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23415222,cosmic_study:465 1q32.1 1 201411472C> T null R H 114 114 missense 0.986 probably damaging 0.0 deleterious 1 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed,gnomAD rs1228478755 1q32.1 1 201411470G> A null R * 115 115 stop gained 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,NCI-TCGA,gnomAD rs780250818 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 201411464G> A null R C 117 117 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1315435172 1q32.1 1 201411449C> T null A T 122 122 missense 0.979 probably damaging 0.02 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,NCI-TCGA,TOPMed,gnomAD rs757767988 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; impact., [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 1q32.1 1 201411440G> A null R W 125 125 missense 0.996 probably damaging 0.0 deleterious 1 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs763654425 1q32.1 1 201411424G> C null S C 130 130 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,gnomAD rs545960859 1q32.1 1 201411414C> A null K N 133 133 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ESP,ExAC,TOPMed,gnomAD rs145661726 1q32.1 1 201411409G> C null S C 135 135 missense 0.989 probably damaging 0.19 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ESP,ExAC,TOPMed,gnomAD rs145661726 1q32.1 1 201411409G> T null S Y 135 135 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs764833009 1q32.1 1 201411406A> G null M T 136 136 missense 0.191 benign 0.03 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1242949710 1q32.1 1 201411397C> T null R Q 139 139 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1485635367 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 201411398G> A null R W 139 139 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs770984709 1q32.1 1 201411394G> A null A V 140 140 missense 0.121 benign 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1252331073 1q32.1 1 201411382G> A null S F 144 144 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed rs1224593181 1q32.1 1 201411368C> T null D N 149 149 missense 0.983 probably damaging 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ESP,ExAC,gnomAD rs373057941 1q32.1 1 201410431C> T null R Q 154 154 missense 0.093 benign 0.06 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed,gnomAD rs931098606 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q32.1 1 201410432G> A null R W 154 154 missense 0.805 possibly damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1199339115 1q32.1 1 201410426C> G null V L 156 156 missense 0.269 benign 0.85 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,gnomAD rs200482688 1q32.1 1 201410420C> A null V L 158 158 2.0E-4 missense 0.057 benign 0.03 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs778298110 1q32.1 1 201410417C> G null G R 159 159 missense 0.326 benign 0.01 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs778298110 1q32.1 1 201410417C> T null G S 159 159 missense 0.001 benign 0.08 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1285573004 1q32.1 1 201410393C> T null A T 167 167 missense 0.993 probably damaging 0.15 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs752242889 1q32.1 1 201410380A> C null M R 171 171 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle Ensembl rs1037301752 1q32.1 1 201410357C> G null D H 179 179 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle gnomAD rs1255719647 1q32.1 1 201410354C> T null A T 180 180 missense 0.993 probably damaging 0.5 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed,gnomAD rs758935384 1q32.1 1 201410351C> T null A T 181 181 missense 0.994 probably damaging 0.07 tolerated 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle Ensembl rs1224369349 1q32.1 1 201410350G> A null A V 181 181 missense 0.99 probably damaging 0.05 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,TOPMed,gnomAD rs753583757 1q32.1 1 201410344G> C null S C 183 183 missense 0.54 possibly damaging 0.02 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,TOPMed,gnomAD rs753583757 1q32.1 1 201410344G> T null S Y 183 183 missense 0.371 benign 0.02 deleterious 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201090247 [NCI-TCGA]: Variant assessed as Somatic; impact. 1q32.1 1 201410341G> A null P L 184 184 2.0E-4 missense 0.417 benign 0.02 deleterious - low confidence 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle TOPMed rs1293133268 1q32.1 1 201410342G> A null P S 184 184 missense 0.013 benign 0.13 tolerated - low confidence 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle 1000Genomes,ExAC,gnomAD rs568550373 1q32.1 1 201410329T> G null * S 188 188 2.0E-4 stop lost 0 A0A087WT47 TNNI1 Troponin I, slow skeletal muscle ExAC,gnomAD rs767421984 1q32.1 1 201410328C> G null * Y 188 188 stop lost 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs780236961 16q11.2 16 46971456A> C null D E 2 2 missense 0.007 benign 0.44 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1259175873 16q11.2 16 46971452T> C null I V 4 4 missense 0.031 benign 0.01 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs756377849 16q11.2 16 46971449A> G null F L 5 5 missense 0.024 benign 0.04 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs750648975 16q11.2 16 46971446A> C null S A 6 6 missense 0.014 benign 0.03 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs781464689 16q11.2 16 46971443G> T null H N 7 7 missense 0.161 benign 0.32 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1302433690 16q11.2 16 46971440T> C null I V 8 8 missense 0.003 benign 0.04 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) Ensembl rs1065332 16q11.2 16 46971434C> A null G C 10 10 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1359505968 16q11.2 16 46971433C> T null G D 10 10 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) TOPMed rs1410625322 16q11.2 16 46971421A> G null F S 14 14 missense 0.859 possibly damaging 0.02 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs757412266 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q11.2 16 46971419C> T null G S 15 15 missense 0.066 benign 0.1 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs764110614 16q11.2 16 46971411C> G null M I 17 17 missense 0.114 benign 0.14 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs764110614 16q11.2 16 46971411C> T null M I 17 17 missense 0.114 benign 0.14 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ESP,TOPMed rs143994918 16q11.2 16 46971391C> T null R Q 24 24 missense 0.075 benign 0.06 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs752569660 16q11.2 16 46971380T> C null R G 28 28 missense 0.255 benign 0.06 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) Ensembl rs1567355353 16q11.2 16 46971374C> T null G R 30 30 missense 0.792 possibly damaging 0.03 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs776259550 16q11.2 16 46971360C> T null M I 34 34 missense 0.0 benign 0.2 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs754752738 16q11.2 16 46968148G> T null L M 44 44 missense 0.058 benign 0.13 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs370257555 16q11.2 16 46968142T> C null N D 46 46 missense 0.001 benign 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs766023911 16q11.2 16 46968133T> C null T A 49 49 missense 0.024 benign 0.01 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs760275799 16q11.2 16 46968130T> C null T A 50 50 missense 0.0 benign 0.51 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC rs772796824 16q11.2 16 46968127T> C null K E 51 51 missense 0.415 benign 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1380326014 16q11.2 16 46968117A> C null L R 54 54 missense 0.589 possibly damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs1045650 16q11.2 16 46968114C> A null S I 55 55 missense 0.006 benign 0.04 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs1045650 16q11.2 16 46968114C> T null S N 55 55 missense 0.02 benign 0.52 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) TOPMed rs1370357490 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 16q11.2 16 46968097T> C null S G 61 61 missense 0.001 benign 0.32 tolerated 1 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,TOPMed,gnomAD rs770342885 16q11.2 16 46968096C> T null S N 61 61 missense 0.005 benign 0.27 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) TOPMed rs1300460916 16q11.2 16 46968088T> C null S G 64 64 missense 0.0 benign 0.21 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1329061310 16q11.2 16 46968087C> A null S I 64 64 missense 0.053 benign 0.01 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) TOPMed,gnomAD rs1400288716 16q11.2 16 46967639C> T null G R 68 68 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1172183733 16q11.2 16 46967636T> C null K E 69 69 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs751026855 16q11.2 16 46967634C> G null K N 69 69 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs751026855 16q11.2 16 46967634C> A null K N 69 69 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1177232448 16q11.2 16 46967626G> A null A V 72 72 missense 0.528 possibly damaging 0.02 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs765847997 16q11.2 16 46967624C> T null V I 73 73 missense 0.577 possibly damaging 0.04 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs563442946 16q11.2 16 46967609C> T null A T 78 78 missense 0.01 benign 1.0 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) TOPMed,gnomAD rs975623207 16q11.2 16 46967608G> A null A V 78 78 missense 0.029 benign 0.24 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs772277874 16q11.2 16 46967599C> G null G A 81 81 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1377492187 16q11.2 16 46967597G> C null R G 82 82 missense 0.81 possibly damaging 0.02 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) TOPMed rs1195784639 16q11.2 16 46967596C> T null R Q 82 82 missense 0.131 benign 0.2 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) Ensembl rs745927844 16q11.2 16 46967590A> C null V G 84 84 missense 0.85 possibly damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ESP,NCI-TCGA,TOPMed,gnomAD rs140371161 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q11.2 16 46967588G> A null R C 85 85 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs534125595 16q11.2 16 46967587C> T null R H 85 85 2.0E-4 missense 0.97 probably damaging 0.01 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs779007173 16q11.2 16 46967585T> C null I V 86 86 missense 0.003 benign 1.0 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs768603261 16q11.2 16 46967582T> C null M V 87 87 missense 0.013 benign 0.43 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1419501601 16q11.2 16 46967579T> C null I V 88 88 missense 0.015 benign 0.39 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1472121887 16q11.2 16 46967567C> A null A S 92 92 missense 0.559 possibly damaging 0.01 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1236367617 16q11.2 16 46967564G> C null P A 93 93 missense 0.874 possibly damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs750150488 16q11.2 16 46967543G> A null Q * 100 100 stop gained 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1354113089 16q11.2 16 46967530G> C null S C 104 104 missense 0.8 possibly damaging 0.04 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) TOPMed,gnomAD rs1226522815 16q11.2 16 46967521T> C null N S 107 107 missense 0.044 benign 0.64 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs756868978 16q11.2 16 46967513C> T null G R 110 110 missense 0.959 probably damaging 0.02 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1428676109 16q11.2 16 46964801A> C null V G 112 112 missense 0.678 possibly damaging 0.32 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) Ensembl rs866713385 16q11.2 16 46964799T> C null I V 113 113 missense 0.705 possibly damaging 0.04 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC rs754457151 16q11.2 16 46964796T> C null N D 114 114 missense 0.009 benign 0.22 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) Ensembl rs200039226 16q11.2 16 46964788T> A null K N 116 116 missense 0.932 probably damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372223991 16q11.2 16 46964784G> A null R C 118 118 2.0E-4 missense 0.97 probably damaging 0.02 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) TOPMed,gnomAD rs1189193637 16q11.2 16 46964783C> T null R H 118 118 missense 0.175 benign 0.02 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1253435557 16q11.2 16 46964775T> C null K E 121 121 missense 0.026 benign 0.47 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC,gnomAD rs756600565 16q11.2 16 46964774T> C null K R 121 121 missense 0.424 benign 0.2 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1456431922 16q11.2 16 46964770A> C null C W 122 122 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1256226961 16q11.2 16 46964765C> T null G E 124 124 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) gnomAD rs1198090542 16q11.2 16 46964759T> C null K R 126 126 missense 0.889 possibly damaging 0.01 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) ExAC rs750771069 16q11.2 16 46964751T> C null K E 129 129 missense 0.085 benign 0.03 deleterious 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) Ensembl rs766635225 16q11.2 16 46964746T> A null E D 130 130 missense 0.405 benign 0.07 tolerated 0 A0A087WT48 DNAJA2 DnaJ homolog subfamily A member 2 (Fragment) Ensembl rs1017561265 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 16q11.2 16 46964736G> T null L I 134 134 missense 0.08 benign 0.12 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 gnomAD rs1288892004 16q22.1 16 67685703G> A null P S 5 5 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 gnomAD rs767310767 16q22.1 16 67685697C> T null V M 7 7 missense 0.972 probably damaging 0.06 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 gnomAD rs371418821 16q22.1 16 67685691C> T null V M 9 9 missense 0.379 benign 0.03 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 gnomAD rs1178310384 16q22.1 16 67685681G> C null T S 12 12 missense 0.499 possibly damaging 0.04 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 gnomAD rs1383745716 16q22.1 16 67685675C> A null S I 14 14 missense 0.038 benign 0.32 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed,gnomAD rs1286798518 16q22.1 16 67685674G> C null S R 14 14 missense 0.005 benign 0.6 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs749715450 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q22.1 16 67685670C> T null A T 16 16 missense 0.131 benign 0.22 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs755631435 16q22.1 16 67685667G> A null R * 17 17 stop gained 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs755631435 16q22.1 16 67685667G> C null R G 17 17 missense 0.022 benign 0.08 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs750162356 16q22.1 16 67685666C> T null R Q 17 17 missense 0.013 benign 0.11 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs780990630 16q22.1 16 67685663A> G null V A 18 18 missense 0.003 benign 0.17 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP,TOPMed rs142308264 16q22.1 16 67685658C> T null V I 20 20 missense 0.045 benign 0.55 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs757159391 16q22.1 16 67685652G> C null L V 22 22 missense 0.086 benign 0.39 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,gnomAD rs751347332 16q22.1 16 67685645C> T null R K 24 24 missense 0.028 benign 0.55 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs763749380 16q22.1 16 67685643C> T null A T 25 25 missense 0.034 benign 0.44 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 gnomAD rs1486885834 16q22.1 16 67685637C> T null G R 27 27 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed,gnomAD rs1213162168 16q22.1 16 67685634A> T null F I 28 28 missense 0.868 possibly damaging 0.05 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 gnomAD rs1475188546 16q22.1 16 67685633A> G null F S 28 28 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed,gnomAD rs1213162168 16q22.1 16 67685634A> C null F V 28 28 missense 0.975 probably damaging 0.06 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs752518002 16q22.1 16 67685624T> A null E V 31 31 missense 0.025 benign 0.34 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,gnomAD rs766501281 16q22.1 16 67685621G> T null A D 32 32 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed rs982303773 16q22.1 16 67685622C> T null A T 32 32 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,gnomAD rs773462804 16q22.1 16 67685615C> T null W * 34 34 stop gained 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP,ExAC,TOPMed,gnomAD rs369890888 16q22.1 16 67685614C> G null W C 34 34 missense 0.688 possibly damaging 0.05 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 Ensembl rs1167669804 16q22.1 16 67685608C> A null K N 36 36 missense 0.133 benign 0.03 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 gnomAD rs1365487177 16q22.1 16 67685607T> A null T S 37 37 missense 0.169 benign 0.16 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 gnomAD rs1190605066 16q22.1 16 67685597T> G null E A 40 40 missense 0.02 benign 0.3 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed,gnomAD rs1459442217 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 16q22.1 16 67685598C> T null E K 40 40 missense 0.036 benign 0.36 tolerated 1 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,NCI-TCGA,TOPMed,gnomAD rs146462160 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q22.1 16 67685594G> A null A V 41 41 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 Ensembl rs1567655481 16q22.1 16 67685586G> A null L F 44 44 missense 0.099 benign 0.05 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed rs1484839139 16q22.1 16 67685580C> G null E Q 46 46 missense 0.007 benign 0.67 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP,ExAC,TOPMed,gnomAD rs149136580 16q22.1 16 67685575C> G null E D 47 47 missense 0.03 benign 0.21 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP,ExAC,TOPMed,gnomAD rs145155253 16q22.1 16 67685565C> G null A P 51 51 missense 0.0 benign 1.0 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs145155253 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16q22.1 16 67685565C> T null A T 51 51 missense 0.003 benign 0.07 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed,gnomAD rs1291911337 16q22.1 16 67685555G> C null T S 54 54 missense 0.873 possibly damaging 0.09 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 Ensembl rs950274400 16q22.1 16 67685556T> A null T S 54 54 missense 0.873 possibly damaging 0.09 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP,ExAC,TOPMed,gnomAD rs370537822 16q22.1 16 67685549C> A null R L 56 56 missense 0.109 benign 0.23 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP,ExAC,TOPMed,gnomAD rs370537822 16q22.1 16 67685549C> T null R Q 56 56 missense 0.005 benign 0.25 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP,TOPMed,gnomAD rs374941562 16q22.1 16 67685550G> A null R W 56 56 missense 0.663 possibly damaging 0.13 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP rs1140038 16q22.1 16 67685544C> T null D N 58 58 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP rs1140038 16q22.1 16 67685544C> A null D Y 58 58 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,gnomAD rs777630554 16q22.1 16 67685541C> G null D H 59 59 missense 0.919 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 gnomAD rs1053396108 16q22.1 16 67685538T> C null I V 60 60 missense 0.0 benign 1.0 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 1000Genomes,ExAC,TOPMed,gnomAD rs531228845 16q22.1 16 67685532G> T null L M 62 62 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 Ensembl rs1555545340 16q22.1 16 67685527A> C null H Q 63 63 missense 0.823 possibly damaging 0.08 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP,ExAC,TOPMed,gnomAD rs377532450 16q22.1 16 67685516T> C null D G 67 67 missense 0.654 possibly damaging 0.01 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed rs1030114613 16q22.1 16 67685507C> T null C Y 70 70 missense 0.17 benign 0.2 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs750521046 16q22.1 16 67685503G> C null I M 71 71 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs767541437 16q22.1 16 67685496G> A null P S 74 74 missense 0.329 benign 0.21 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs774375730 16q22.1 16 67685493G> C null P A 75 75 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs774375730 16q22.1 16 67685493G> A null P S 75 75 missense 0.95 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs774375730 16q22.1 16 67685493G> T null P T 75 75 missense 0.95 probably damaging 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs764077977 16q22.1 16 67685483G> T null T N 78 78 missense 0.494 possibly damaging 0.1 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,TOPMed,gnomAD rs763225973 16q22.1 16 67685484T> A null T S 78 78 missense 0.467 possibly damaging 0.1 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed,gnomAD rs1437109916 16q22.1 16 67685480C> T null R Q 79 79 missense 0.094 benign 0.48 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,gnomAD rs770402264 16q22.1 16 67685481G> A null R W 79 79 missense 0.827 possibly damaging 0.03 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed,gnomAD rs892810423 16q22.1 16 67685478G> T null Q K 80 80 missense 0.66 possibly damaging 0.05 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ExAC,gnomAD rs746329728 16q22.1 16 67685475T> C null I V 81 81 missense 0.254 benign 0.15 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed rs1441562642 16q22.1 16 67685472A> G null S P 82 82 missense 0.162 benign 0.0 deleterious 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 ESP,ExAC,TOPMed,gnomAD rs140484538 16q22.1 16 67685469C> G null V L 83 83 missense 0.488 possibly damaging 0.06 tolerated 0 A0A087WT49 GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 TOPMed,gnomAD rs1160803524 16q22.1 16 67683579_67683580de l null * R 91 91 stop lost 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs775192461 16p13.3 16 4740505A> T null D V 1 1 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1170233149 16p13.3 16 4740507A> G null I V 2 2 missense 0.984 probably damaging 0.09 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ESP,ExAC,gnomAD rs371213769 16p13.3 16 4740513C> T null Q * 4 4 stop gained 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1430078173 16p13.3 16 4740517A> G null K R 5 5 missense 0.344 benign 0.02 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ExAC,gnomAD rs182953410 16p13.3 16 4740523C> T null T I 7 7 2.0E-4 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs750228262 16p13.3 16 4740526G> C null R P 8 8 missense 0.929 probably damaging 0.11 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs750228262 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4740526G> A null R Q 8 8 missense 0.832 possibly damaging 0.4 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149026597 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4740525C> T null R W 8 8 missense 0.007 benign 0.77 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143096466 16p13.3 16 4740532C> T null A V 10 10 2.0E-4 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141532558 16p13.3 16 4740537G> A null G S 12 12 2.0E-4 missense 0.028 benign 0.29 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs912811971 16p13.3 16 4740541C> T null P L 13 13 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) Ensembl rs866615824 16p13.3 16 4740550G> A null S N 16 16 missense 0.934 probably damaging 0.07 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs779886072 16p13.3 16 4740561G> A null G R 20 20 missense 0.062 benign 0.8 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs779886072 16p13.3 16 4740561G> T null G W 20 20 missense 0.054 benign 0.04 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs765448870 16p13.3 16 4740569G> C null K N 22 22 missense 0.78 possibly damaging 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs1391247149 16p13.3 16 4740567A> C null K Q 22 22 missense 0.204 benign 0.08 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35002791 16p13.3 16 4740570G> A null E K 23 23 0.003594 missense 0.518 possibly damaging 0.09 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs748099682 16p13.3 16 4740573G> T null A S 24 24 missense 0.675 possibly damaging 0.1 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ESP,ExAC,TOPMed,gnomAD rs143102148 16p13.3 16 4740574C> T null A V 24 24 missense 0.041 benign 0.44 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs762775551 16p13.3 16 4740577C> A null P H 25 25 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) Ensembl rs968840196 16p13.3 16 4740580G> A null C Y 26 26 missense 0.979 probably damaging 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) Ensembl rs977944813 16p13.3 16 4740582C> T null H Y 27 27 missense 0.572 possibly damaging 0.03 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs774575818 16p13.3 16 4740585G> A null A T 28 28 missense 0.247 benign 0.09 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375321614 16p13.3 16 4740586C> T null A V 28 28 missense 0.765 possibly damaging 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,TOPMed,gnomAD rs575594583 16p13.3 16 4740589C> A null A E 29 29 2.0E-4 missense 0.876 possibly damaging 0.02 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) Ensembl rs1567499091 16p13.3 16 4740588G> A null A T 29 29 missense 0.462 possibly damaging 0.11 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,NCI-TCGA,TOPMed,gnomAD rs575594583 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4740589C> T null A V 29 29 2.0E-4 missense 0.031 benign 0.15 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed rs918697903 16p13.3 16 4740592A> C null E A 30 30 missense 0.829 possibly damaging 0.35 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs1246513365 16p13.3 16 4740594T> G null S A 31 31 missense 0.99 probably damaging 0.56 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs7202010 16p13.3 16 4740598C> T null A V 32 32 0.02356 missense 0.667 possibly damaging 0.07 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1208656804 16p13.3 16 4740600C> T null P S 33 33 missense 0.616 possibly damaging 0.14 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs756631772 16p13.3 16 4740610A> C null K T 36 36 missense 0.372 benign 0.08 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372952225 16p13.3 16 4740621G> C null V L 40 40 missense 0.058 benign 0.17 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372952225 16p13.3 16 4740621G> A null V M 40 40 missense 0.023 benign 0.11 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs779363634 cosmic curated [Cosmic]: oesophagus pubmed:23525077,cosmic_study:464 16p13.3 16 4740631C> T null P L 43 43 missense 0.01 benign 0.14 tolerated 1 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed rs1166258670 16p13.3 16 4740633G> C null E Q 44 44 missense 0.403 benign 0.04 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) NCI-TCGA,TOPMed,gnomAD rs758436379 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4740637G> A null G E 45 45 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs754673926 16p13.3 16 4740640C> T null P L 46 46 missense 0.114 benign 0.81 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs754673926 16p13.3 16 4740640C> G null P R 46 46 missense 0.972 probably damaging 0.94 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs747671355 16p13.3 16 4740643C> T null P L 47 47 missense 0.344 benign 0.19 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed rs1194962814 16p13.3 16 4740648C> T null L F 49 49 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs144741586 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4740652C> T null S L 50 50 0.001398 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1330283752 16p13.3 16 4740654C> T null L F 51 51 missense 0.13 benign 0.1 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) Ensembl rs943728344 16p13.3 16 4740657C> T null Q * 52 52 stop gained 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs150544160 16p13.3 16 4740659G> T null Q H 52 52 0.001398 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1481894962 16p13.3 16 4743046C> T null L F 54 54 missense 0.245 benign 0.03 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs768787827 16p13.3 16 4743050A> G null E G 55 55 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ESP,ExAC,TOPMed,gnomAD rs144417396 cosmic curated [Cosmic]: large_intestine, [Cosmic]: ovary pubmed:22102435,cosmic_study:376,cosmic_study:397 16p13.3 16 4743053C> T null A V 56 56 missense 0.635 possibly damaging 0.01 deleterious 1 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) Ensembl rs997656452 16p13.3 16 4743056G> C null W S 57 57 missense 0.503 possibly damaging 0.06 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,NCI-TCGA,gnomAD rs765815548 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4743058G> A null D N 58 58 missense 0.91 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1458252155 16p13.3 16 4743063G> C null L F 59 59 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) Ensembl rs75138274 16p13.3 16 4743065A> C null D A 60 60 missense 0.91 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs907921773 16p13.3 16 4743068A> G null D G 61 61 missense 0.085 benign 0.3 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) Ensembl rs1030415778 16p13.3 16 4743079A> G null S G 65 65 missense 0.91 probably damaging 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs750857372 16p13.3 16 4743080G> C null S T 65 65 missense 0.91 probably damaging 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs766601849 16p13.3 16 4743083T> C null L P 66 66 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs763440576 16p13.3 16 4743082C> G null L V 66 66 missense 0.243 benign 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147814174 16p13.3 16 4743086C> T null A V 67 67 3.99E-4 missense 0.889 possibly damaging 0.09 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed rs1299149852 16p13.3 16 4743089G> A null G E 68 68 missense 0.791 possibly damaging 0.05 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs1341633169 16p13.3 16 4743088G> A null G R 68 68 missense 0.122 benign 0.06 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs753329084 16p13.3 16 4743091C> G null Q E 69 69 missense 0.546 possibly damaging 0.04 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs757228702 16p13.3 16 4743094G> A null E K 70 70 missense 0.301 benign 0.04 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs1204002956 16p13.3 16 4743097G> A null D N 71 71 missense 0.964 probably damaging 0.03 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1274844898 16p13.3 16 4743104A> G null Q R 73 73 missense 0.829 possibly damaging 0.67 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs35021889 16p13.3 16 4743110A> T null N I 75 75 missense 0.187 benign 0.03 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs771918029 16p13.3 16 4743111T> A null N K 75 75 missense 0.794 possibly damaging 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed rs1379453531 16p13.3 16 4743109A> T null N Y 75 75 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs372568912 16p13.3 16 4743112C> T null R C 76 76 0.003794 missense 0.953 probably damaging 0.07 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs372568912 16p13.3 16 4743112C> G null R G 76 76 0.003794 missense 0.839 possibly damaging 0.69 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs988132953 16p13.3 16 4743113G> A null R H 76 76 missense 0.025 benign 0.23 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs988132953 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p13.3 16 4743113G> C null R P 76 76 missense 0.946 probably damaging 0.14 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1388164071 16p13.3 16 4743116C> T null A V 77 77 missense 0.05 benign 0.11 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs747322465 16p13.3 16 4743118C> A null P T 78 78 missense 0.843 possibly damaging 0.04 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1372599396 16p13.3 16 4743121G> C null G R 79 79 missense 0.976 probably damaging 0.69 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) Ensembl rs1567502135 16p13.3 16 4743122G> T null G V 79 79 missense 0.984 probably damaging 0.07 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ExAC,gnomAD rs572352973 16p13.3 16 4743125C> T null T I 80 80 2.0E-4 missense 0.51 possibly damaging 0.02 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1326154466 16p13.3 16 4743132G> A null W * 82 82 stop gained 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) Ensembl rs755445383 16p13.3 16 4743130T> G null W G 82 82 missense 0.961 probably damaging 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs761953118 16p13.3 16 4743135G> C null W C 83 83 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ESP,ExAC,TOPMed,gnomAD rs139659285 16p13.3 16 4743134G> C null W S 83 83 missense 0.943 probably damaging 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs1398372825 16p13.3 16 4743137C> T null A V 84 84 missense 0.88 possibly damaging 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs1364945013 16p13.3 16 4743139G> A null A T 85 85 missense 0.146 benign 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs906347329 16p13.3 16 4743144C> G null D E 86 86 missense 0.775 possibly damaging 0.03 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs773876392 16p13.3 16 4743143A> T null D V 86 86 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC rs763493658 16p13.3 16 4743145C> G null H D 87 87 missense 0.098 benign 0.53 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,ExAC,gnomAD rs541308942 16p13.3 16 4743146A> G null H R 87 87 3.99E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs774570763 16p13.3 16 4743148C> T null R C 88 88 missense 0.001 benign 0.18 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs760429505 16p13.3 16 4743149G> A null R H 88 88 missense 0.005 benign 0.54 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs753451909 16p13.3 16 4743151C> T null Q * 89 89 stop gained 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1464296829 16p13.3 16 4743157C> G null Q E 91 91 missense 0.979 probably damaging 0.35 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs750366259 16p13.3 16 4743161G> C null G A 92 92 missense 0.563 possibly damaging 0.16 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs750366259 16p13.3 16 4743161G> A null G D 92 92 missense 0.013 benign 0.91 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ESP,ExAC,TOPMed,gnomAD rs145310265 16p13.3 16 4743160G> C null G R 92 92 missense 0.904 possibly damaging 0.04 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ESP,ExAC,TOPMed,gnomAD rs145310265 16p13.3 16 4743160G> A null G S 92 92 missense 0.589 possibly damaging 0.11 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs1175618341 16p13.3 16 4743171G> T null L F 95 95 missense 0.722 possibly damaging 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs1175618341 16p13.3 16 4743171G> C null L F 95 95 missense 0.722 possibly damaging 0.01 deleterious 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed rs1030740814 16p13.3 16 4743173A> C null N T 96 96 missense 0.056 benign 0.49 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs779958102 16p13.3 16 4743175A> C null T P 97 97 missense 0.083 benign 0.12 tolerated 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs781595706 16p13.3 16 4743182C> T null A V 99 99 missense 0.006 benign 0.02 deleterious - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ESP,ExAC,TOPMed,gnomAD rs201791713 16p13.3 16 4743186C> A null H Q 100 100 missense 0.081 benign 0.59 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs748330765 16p13.3 16 4743184C> T null H Y 100 100 missense 0.055 benign 0.09 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs749870718 16p13.3 16 4743187G> C null V L 101 101 missense 0.013 benign 0.12 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs749870718 16p13.3 16 4743187G> A null V M 101 101 missense 0.316 benign 0.1 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs771324933 16p13.3 16 4743193C> G null P A 103 103 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs774823905 16p13.3 16 4743198C> G null H Q 104 104 missense 0.081 benign 0.04 deleterious - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs759853872 16p13.3 16 4743199A> G null K E 105 105 missense 0.041 benign 0.13 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,gnomAD rs767825463 16p13.3 16 4743202C> T null Q * 106 106 stop gained 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs1328457548 16p13.3 16 4743205C> T null H Y 107 107 missense 0.055 benign 1.0 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs776282041 16p13.3 16 4743208C> T null L F 108 108 missense 0.161 benign 0.17 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) ExAC,TOPMed,gnomAD rs761391650 16p13.3 16 4743211C> A null P T 109 109 missense 0.96 probably damaging 0.04 deleterious - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs908947376 16p13.3 16 4743215G> T null G V 110 110 missense 0.118 benign 0.01 deleterious - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed rs964931969 16p13.3 16 4743218C> T null P L 111 111 missense 0.083 benign 0.11 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1203372748 16p13.3 16 4743217C> A null P T 111 111 missense 0.041 benign 0.23 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1230880962 16p13.3 16 4743220C> T null L F 112 112 missense 0.157 benign 0.03 deleterious - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed rs1473417264 16p13.3 16 4743227A> C null H P 114 114 missense 0.0 benign 0.05 deleterious - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1471329945 16p13.3 16 4743230G> T null R I 115 115 missense 0.0 benign 0.37 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1179658962 16p13.3 16 4743233G> A null G E 116 116 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed,gnomAD rs941704237 16p13.3 16 4743235C> G null L V 117 117 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) gnomAD rs1443350284 16p13.3 16 4743245G> C null G A 120 120 missense 0.0 benign 0.33 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed rs1485822927 16p13.3 16 4743247C> T null H Y 121 121 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,TOPMed,gnomAD rs138023940 16p13.3 16 4743253C> G null Q E 123 123 0.008986 missense 0.0 benign 0.1 tolerated - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) TOPMed rs1202814709 16p13.3 16 4743261C> G null C W 125 125 missense 0.833 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT50 C16orf71 Uncharacterized protein C16orf71 (Fragment) 1000Genomes,TOPMed,gnomAD rs530013887 16p13.3 16 4743290C> T null P L 135 135 7.99E-4 missense 0.0 unknown 0.19 tolerated - low confidence 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ESP,ExAC,gnomAD rs373935522 15q25.3 15 88464807C> T null R K 3 3 missense 0.012 benign 1.0 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs780795140 15q25.3 15 88464803C> A null E D 4 4 missense 0.059 benign 0.04 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,TOPMed,gnomAD rs746312832 15q25.3 15 88464805C> T null E K 4 4 missense 0.098 benign 0.04 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) TOPMed rs1321638611 15q25.3 15 88464793C> T null D N 8 8 missense 0.233 benign 0.27 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) TOPMed rs1321638611 15q25.3 15 88464793C> A null D Y 8 8 missense 0.978 probably damaging 0.01 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) gnomAD rs1337067881 15q25.3 15 88464786T> C null D G 10 10 missense 0.026 benign 0.05 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369179967 15q25.3 15 88464787C> G null D H 10 10 2.0E-4 missense 0.891 possibly damaging 0.01 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) TOPMed,gnomAD rs1273393336 15q25.3 15 88464778T> C null I V 13 13 missense 0.005 benign 0.51 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs746732847 15q25.3 15 88464774A> C null L R 14 14 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) gnomAD rs1215733723 15q25.3 15 88464775G> C null L V 14 14 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) 1000Genomes,ExAC,gnomAD rs201113766 15q25.3 15 88464771G> A null P L 15 15 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) Ensembl rs958978015 15q25.3 15 88464772G> A null P S 15 15 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) gnomAD rs1222486282 15q25.3 15 88464769G> A null Q * 16 16 stop gained 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) Ensembl rs1567040238 15q25.3 15 88464765G> T null A E 17 17 missense 0.444 benign 0.07 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) TOPMed rs1280138448 15q25.3 15 88464766C> T null A T 17 17 missense 0.02 benign 0.26 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) TOPMed rs909217264 15q25.3 15 88464762T> A null E V 18 18 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs757976678 15q25.3 15 88464759C> T null W * 19 19 stop gained 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs752517070 15q25.3 15 88464754G> C null P A 21 21 missense 0.287 benign 0.18 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,TOPMed,gnomAD rs764958997 15q25.3 15 88464753G> A null P L 21 21 missense 0.381 benign 0.05 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs754988149 15q25.3 15 88464750C> T null G E 22 22 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs150383187 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 15q25.3 15 88464739G> A null R * 26 26 2.0E-4 stop gained 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs150383187 15q25.3 15 88464739G> C null R G 26 26 2.0E-4 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) Ensembl rs1567040227 15q25.3 15 88464733T> C null T A 28 28 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs761789072 15q25.3 15 88464732G> A null T I 28 28 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs764417824 15q25.3 15 88464730C> T null A T 29 29 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs776020811 15q25.3 15 88464726T> G null E A 30 30 missense 0.792 possibly damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ESP,ExAC,gnomAD rs377122463 15q25.3 15 88464724G> A null R * 31 31 stop gained 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) 1000Genomes,ExAC,gnomAD rs186797200 15q25.3 15 88464723C> T null R Q 31 31 2.0E-4 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs776988997 15q25.3 15 88464720G> A null T I 32 32 missense 0.03 benign 0.35 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,TOPMed rs777221535 15q25.3 15 88464717A> T null L Q 33 33 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) gnomAD rs1300525588 15q25.3 15 88464715C> G null A P 34 34 missense 0.786 possibly damaging 0.02 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) TOPMed rs960559249 15q25.3 15 88464714G> A null A V 34 34 missense 0.049 benign 0.08 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,TOPMed,gnomAD rs758066377 15q25.3 15 88464712T> C null T A 35 35 missense 0.011 benign 0.35 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,TOPMed,gnomAD rs747773332 15q25.3 15 88464709G> T null L I 36 36 missense 0.792 possibly damaging 0.09 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs778716020 15q25.3 15 88464708A> G null L P 36 36 missense 0.979 probably damaging 0.01 deleterious 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,TOPMed,gnomAD rs747773332 15q25.3 15 88464709G> C null L V 36 36 missense 0.792 possibly damaging 0.15 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs766243677 15q25.3 15 88464705G> A null S L 37 37 missense 0.767 possibly damaging 0.19 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) ExAC,gnomAD rs753874801 15q25.3 15 88464706A> G null S P 37 37 missense 0.149 benign 0.28 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) TOPMed rs1300483138 15q25.3 15 88460382C> T null G D 38 38 missense 0.003 benign 0.27 tolerated 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) Ensembl rs1567039321 15q25.3 15 88460373T> C null H R 41 41 missense 0.0 benign 0.36 tolerated - low confidence 0 A0A087WT51 MRPL46 39S ribosomal protein L46, mitochondrial (Fragment) TOPMed rs1007371932 15q25.3 15 88460359A> G null * R 46 46 stop lost 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs771939046 11q24.2 11 125627671C> T null R C 3 3 missense 0.929 probably damaging 0.03 deleterious - low confidence 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs537858020 11q24.2 11 125627672G> A null R H 3 3 2.0E-4 missense 0.746 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs760734978 11q24.2 11 125627675C> A null A D 4 4 missense 0.115 benign 0.8 tolerated - low confidence 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) Ensembl rs1565361807 11q24.2 11 125627674G> T null A S 4 4 missense 0.071 benign 0.78 tolerated - low confidence 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,TOPMed,gnomAD rs768467449 11q24.2 11 125627677G> A null V I 5 5 missense 0.0 benign 0.22 tolerated - low confidence 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) gnomAD rs1367390698 11q24.2 11 125627685T> A null C * 7 7 stop gained 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) Ensembl rs1565361841 11q24.2 11 125627693A> G null N S 10 10 missense 0.006 benign 0.44 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,TOPMed,gnomAD rs779362881 11q24.2 11 125627706G> T null E D 14 14 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,TOPMed,gnomAD rs762977718 11q24.2 11 125627704G> A null E K 14 14 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) gnomAD rs1266930698 11q24.2 11 125627710T> G null C G 16 16 missense 0.323 benign 0.17 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) gnomAD rs1248538225 11q24.2 11 125627724G> A null M I 20 20 missense 0.243 benign 0.25 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,NCI-TCGA,gnomAD rs751719325 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q24.2 11 125627731C> A null H N 23 23 missense 0.868 possibly damaging 0.06 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) 1000Genomes,ExAC rs554220572 11q24.2 11 125627736A> T null E D 24 24 2.0E-4 missense 0.005 benign 0.3 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) 1000Genomes,ExAC rs554220572 11q24.2 11 125627736A> C null E D 24 24 2.0E-4 missense 0.005 benign 0.3 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs767992502 11q24.2 11 125627740G> A null V I 26 26 missense 0.007 benign 0.71 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs767992502 11q24.2 11 125627740G> C null V L 26 26 missense 0.063 benign 0.05 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375481689 11q24.2 11 125627746A> G null K E 28 28 missense 0.565 possibly damaging 0.26 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) gnomAD rs1386843282 11q24.2 11 125627748A> C null K N 28 28 missense 0.897 possibly damaging 0.01 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) TOPMed rs1356561612 11q24.2 11 125627749T> G null F V 29 29 missense 0.87 possibly damaging 0.05 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141665265 11q24.2 11 125627753A> G null Y C 30 30 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs141665265 11q24.2 11 125627753A> T null Y F 30 30 missense 0.009 benign 0.52 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) TOPMed rs1224598742 11q24.2 11 125627758C> G null H D 32 32 missense 0.4 benign 0.43 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) Ensembl rs1565362006 11q24.2 11 125627765G> A null R K 34 34 missense 0.007 benign 0.89 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,TOPMed,gnomAD rs758124077 11q24.2 11 125627771G> T null G V 36 36 missense 0.569 possibly damaging 0.1 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs746760826 11q24.2 11 125627778C> G null I M 38 38 missense 0.092 benign 0.24 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs768667116 11q24.2 11 125627780A> G null Q R 39 39 missense 0.775 possibly damaging 0.39 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) TOPMed,gnomAD rs1227533180 11q24.2 11 125627789T> A null F Y 42 42 missense 0.881 possibly damaging 0.08 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) gnomAD rs1207424665 11q24.2 11 125627794G> A null E K 44 44 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs767610516 11q24.2 11 125627801G> A null C Y 46 46 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs775964760 11q24.2 11 125627815C> T null L F 51 51 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,TOPMed,gnomAD rs764684778 11q24.2 11 125627827A> G null I V 55 55 missense 0.765 possibly damaging 0.01 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs754338984 11q24.2 11 125627830G> T null E * 56 56 stop gained 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) TOPMed,gnomAD rs1426460534 11q24.2 11 125629243G> T null G C 60 60 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) TOPMed,gnomAD rs1426460534 11q24.2 11 125629243G> A null G S 60 60 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs764300223 11q24.2 11 125629258G> C null D H 65 65 missense 0.014 benign 0.48 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs764300223 11q24.2 11 125629258G> A null D N 65 65 missense 0.018 benign 0.4 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,TOPMed,gnomAD rs762470361 11q24.2 11 125629262C> T null A V 66 66 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) 1000Genomes,ExAC,gnomAD rs563722813 11q24.2 11 125629273T> G null F V 70 70 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) TOPMed,gnomAD rs1383121355 11q24.2 11 125629276C> T null H Y 71 71 missense 0.048 benign 0.03 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) TOPMed rs1197536561 11q24.2 11 125629285A> G null M V 74 74 missense 0.003 benign 0.13 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) Ensembl rs1048249612 11q24.2 11 125629291G> A null G R 76 76 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs749996823 11q24.2 11 125629295T> G null V G 77 77 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) gnomAD rs1207337706 11q24.2 11 125629406A> G null I V 83 83 missense 0.001 benign 0.36 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) Ensembl rs112275638 11q24.2 11 125629412A> G null I V 85 85 missense 0.011 benign 1.0 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) Ensembl rs867675787 11q24.2 11 125629421A> G null R G 88 88 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs759158547 11q24.2 11 125629445C> A null L M 96 96 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,TOPMed,gnomAD rs752519129 11q24.2 11 125629446T> C null L P 96 96 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371765740 11q24.2 11 125629451G> T null D Y 98 98 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) gnomAD rs1391121414 11q24.2 11 125629458G> A null R K 100 100 missense 0.007 benign 0.81 tolerated 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,TOPMed,gnomAD rs777701208 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 11q24.2 11 125629459G> T null R S 100 100 missense 0.045 benign 0.75 tolerated 1 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) TOPMed rs1279298605 11q24.2 11 125633169T> G null L R 103 103 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,TOPMed,gnomAD rs775066373 11q24.2 11 125633172A> T null K I 104 104 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,TOPMed,gnomAD rs760469704 11q24.2 11 125633173A> T null K N 104 104 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT52 CHEK1 Serine/threonine-protein kinase Chk1 (Fragment) ExAC,gnomAD rs763944664 11q24.2 11 125633183T> G null F V 108 108 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs749076951 3p14.1 3 65470313T> C null Y C 3 3 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs771135103 3p14.1 3 65470310G> A null T I 4 4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs370045288 3p14.1 3 65470311T> A null T S 4 4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs747071272 3p14.1 3 65470301C> G null G A 7 7 missense 1.0 probably damaging 0.05 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs747071272 3p14.1 3 65470301C> T null G E 7 7 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs777762657 3p14.1 3 65470299C> T null E K 8 8 missense 0.915 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs939853602 3p14.1 3 65470296C> T null V I 9 9 missense 0.314 benign 0.2 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs758467633 3p14.1 3 65470286A> G null I T 12 12 missense 0.853 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1220695462 3p14.1 3 65470284C> A null D Y 13 13 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559566368 3p14.1 3 65453335T> C null N S 15 15 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs554948124 3p14.1 3 65453332G> A null T M 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs554948124 3p14.1 3 65453332G> C null T R 16 16 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1308159408 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65453320G> C null S C 20 20 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1386713740 3p14.1 3 65453317C> T null W * 21 21 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs750145909 3p14.1 3 65453312C> A null D Y 23 23 missense 1.0 probably damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs780955981 3p14.1 3 65453309G> C null P A 24 24 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1440949896 3p14.1 3 65453306G> A null R W 25 25 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs995591025 3p14.1 3 65453297T> C null N D 28 28 missense 0.009 benign 1.0 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1156562124 3p14.1 3 65453296T> A null N I 28 28 missense 0.413 benign 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs75366414 3p14.1 3 65453288G> T null Q K 31 31 missense 0.031 benign 1.0 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs762879969 3p14.1 3 65453282G> A null P S 33 33 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs762879969 3p14.1 3 65453282G> T null P T 33 33 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1396769656 3p14.1 3 65453279G> T null L M 34 34 missense 0.994 probably damaging 0.19 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,TOPMed,gnomAD rs201638232 3p14.1 3 65453274T> A null E D 35 35 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs752573026 3p14.1 3 65453273C> T null E K 36 36 missense 0.813 possibly damaging 0.09 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1247477423 3p14.1 3 65453270A> G null C R 37 37 missense 0.069 benign 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1247477423 3p14.1 3 65453270A> T null C S 37 37 missense 0.069 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1203682992 3p14.1 3 65453265T> A null E D 38 38 missense 0.129 benign 0.14 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1358484495 3p14.1 3 65453267C> G null E Q 38 38 missense 0.969 probably damaging 0.05 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs765136787 3p14.1 3 65453261C> G null D H 40 40 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1403801894 3p14.1 3 65448055C> G null G R 42 42 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs373310025 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 3p14.1 3 65448043C> T null E K 46 46 missense 0.805 possibly damaging 0.03 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs562464347 3p14.1 3 65448038C> A null E D 47 47 2.0E-4 missense 0.015 benign 0.16 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs746716247 3p14.1 3 65448037G> T null L M 48 48 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs746716247 3p14.1 3 65448037G> C null L V 48 48 missense 0.957 probably damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs763041850 3p14.1 3 65448033T> A null D V 49 49 missense 0.678 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs757966074 3p14.1 3 65448025G> T null L I 52 52 missense 0.937 probably damaging 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs755930868 3p14.1 3 65442846A> G null L P 54 54 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs750132743 3p14.1 3 65442843G> A null P L 55 55 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC rs758480890 3p14.1 3 65442840G> T null A D 56 56 missense 0.077 benign 0.45 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1187772329 3p14.1 3 65442832C> A null E * 59 59 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs752957965 3p14.1 3 65442829T> C null K E 60 60 missense 0.858 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs765463916 3p14.1 3 65442826T> C null I V 61 61 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1253063328 3p14.1 3 65442817G> C null P A 64 64 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1207792454 3p14.1 3 65442814C> T null V I 65 65 missense 0.269 benign 0.48 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1444851467 3p14.1 3 65442810T> C null Y C 66 66 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1488902894 3p14.1 3 65442807C> A null G V 67 67 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs754436739 3p14.1 3 65442804A> G null I T 68 68 missense 0.048 benign 0.72 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs141859891 3p14.1 3 65442805T> C null I V 68 68 missense 0.0 benign 1.0 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs761124349 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65442795A> G null V A 71 71 missense 0.911 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1443240918 3p14.1 3 65442792T> C null D G 72 72 missense 0.912 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs770670822 3p14.1 3 65440008T> C null I V 74 74 missense 0.74 possibly damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1305900093 3p14.1 3 65440004T> G null N T 75 75 missense 0.893 possibly damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,gnomAD rs371147983 3p14.1 3 65439997C> G null K N 77 77 missense 0.953 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,gnomAD rs536268252 3p14.1 3 65439998T> C null K R 77 77 2.0E-4 missense 0.263 benign 0.43 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs755194226 3p14.1 3 65439995G> A null T I 78 78 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1481145301 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65439980G> A null P L 83 83 missense 0.933 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs371020345 3p14.1 3 65439978C> T null V I 84 84 missense 0.037 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1034865438 3p14.1 3 65439972C> A null E * 86 86 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1462995498 3p14.1 3 65439971T> C null E G 86 86 missense 0.921 probably damaging 0.05 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs756207965 3p14.1 3 65439968G> A null A V 87 87 missense 0.781 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,NCI-TCGA,TOPMed,gnomAD rs376567111 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65439962C> T null R Q 89 89 missense 0.807 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs750943411 cosmic curated [Cosmic]: breast, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23525077,cosmic_study:414,cosmic_study:464 3p14.1 3 65439963G> A null R W 89 89 missense 0.959 probably damaging 0.0 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC rs764696072 3p14.1 3 65439933G> A null Q * 99 99 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs759065901 3p14.1 3 65439932T> G null Q P 99 99 missense 0.0 benign 0.54 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1199295378 3p14.1 3 65439929T> C null Q R 100 100 missense 0.206 benign 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs770861590 3p14.1 3 65439925C> G null Q H 101 101 missense 0.366 benign 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA rs773082777 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 3p14.1 3 65439921G> A null Q * 103 103 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs62637700 3p14.1 3 65439912G> C null Q E 106 106 missense 0.033 benign 0.8 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs62637700 3p14.1 3 65439912G> T null Q K 106 106 missense 0.053 benign 0.53 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs756194119 3p14.1 3 65439905T> A null Q L 108 108 missense 0.009 benign 0.35 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs924669695 3p14.1 3 65439899T> A null Q L 110 110 missense 0.055 benign 0.82 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs745907451 3p14.1 3 65439896T> A null Q L 111 111 missense 0.031 benign 0.67 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs745907451 3p14.1 3 65439896T> C null Q R 111 111 missense 0.011 benign 0.6 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1439574776 3p14.1 3 65439893T> C null Q R 112 112 missense 0.011 benign 0.49 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1164388019 3p14.1 3 65439885T> C null T A 115 115 missense 0.009 benign 0.81 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1461638265 3p14.1 3 65439884G> T null T K 115 115 missense 0.023 benign 0.71 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1199313158 3p14.1 3 65439882C> G null E Q 116 116 missense 0.122 benign 0.19 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs758785638 3p14.1 3 65437238T> C null E G 120 120 missense 0.013 benign 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs758785638 3p14.1 3 65437238T> A null E V 120 120 missense 0.628 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1203594175 3p14.1 3 65437235T> C null D G 121 121 missense 0.279 benign 0.33 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,TOPMed rs144417292 3p14.1 3 65437236C> A null D Y 121 121 missense 0.807 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs778434612 3p14.1 3 65437223A> G null L P 125 125 missense 0.408 benign 0.16 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs148740667 3p14.1 3 65437224G> C null L V 125 125 missense 0.001 benign 0.21 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC rs754600873 3p14.1 3 65437221C> T null V M 126 126 missense 0.652 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs544009720 3p14.1 3 65437212C> A null V F 129 129 5.99E-4 missense 0.198 benign 0.66 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs544009720 3p14.1 3 65437212C> G null V L 129 129 5.99E-4 missense 0.001 benign 0.85 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs760229586 3p14.1 3 65437208A> T null I N 130 130 missense 0.318 benign 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs760229586 3p14.1 3 65437208A> G null I T 130 130 missense 0.076 benign 0.26 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1293054962 3p14.1 3 65437206G> C null P A 131 131 missense 0.007 benign 0.42 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs996895545 3p14.1 3 65437203T> C null N D 132 132 missense 0.164 benign 0.16 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs996895545 3p14.1 3 65437203T> G null N H 132 132 missense 0.018 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1340967725 3p14.1 3 65437200G> A null H Y 133 133 missense 0.174 benign 0.7 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs546485283 3p14.1 3 65437196G> A null P L 134 134 3.99E-4 missense 0.003 benign 0.27 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1432810177 3p14.1 3 65437193G> C null P R 135 135 missense 0.055 benign 0.05 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,gnomAD rs374965219 3p14.1 3 65437189G> C null S R 136 136 missense 0.081 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs761728260 3p14.1 3 65437184G> C null P R 138 138 missense 0.001 benign 0.26 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1191392366 3p14.1 3 65437176C> T null A T 141 141 missense 0.006 benign 0.41 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs774125461 3p14.1 3 65437173T> C null R G 142 142 missense 0.013 benign 0.05 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs768326556 3p14.1 3 65437164G> C null P A 145 145 missense 0.006 benign 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1484993146 3p14.1 3 65437161G> A null L F 146 146 missense 0.251 benign 0.59 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs374712093 3p14.1 3 65430881C> T null G D 148 148 missense 0.545 possibly damaging 0.05 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs374712093 3p14.1 3 65430881C> A null G V 148 148 missense 0.08 benign 0.11 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs762636765 3p14.1 3 65430879T> G null K Q 149 149 missense 0.928 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs771103644 3p14.1 3 65430872A> G null F S 151 151 missense 0.983 probably damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1333863678 3p14.1 3 65430867T> C null T A 153 153 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1480501770 3p14.1 3 65430864G> A null R * 154 154 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1326962952 3p14.1 3 65430861T> G null N H 155 155 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs113401632 3p14.1 3 65430860T> C null N S 155 155 missense 0.696 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs763905797 3p14.1 3 65430858G> C null P A 156 156 missense 0.815 possibly damaging 0.18 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs763905797 3p14.1 3 65430858G> A null P S 156 156 missense 0.952 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs763905797 3p14.1 3 65430858G> T null P T 156 156 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs961900931 3p14.1 3 65430854G> C null S C 157 157 missense 0.9 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs961900931 3p14.1 3 65430854G> T null S Y 157 157 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs531375857 3p14.1 3 65430850C> A null E D 158 158 missense 0.768 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1416417118 3p14.1 3 65430842C> G null G A 161 161 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1232221217 3p14.1 3 65430840T> G null K Q 162 162 missense 0.303 benign 0.09 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs779256461 3p14.1 3 65430828T> C null T A 166 166 missense 0.998 probably damaging 0.11 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1362609263 3p14.1 3 65430827G> C null T R 166 166 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs769112594 3p14.1 3 65430825T> C null K E 167 167 missense 0.908 possibly damaging 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs749564086 3p14.1 3 65430824T> C null K R 167 167 missense 0.929 probably damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375653415 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376,cosmic_study:377 3p14.1 3 65430818C> T null R Q 169 169 missense 0.055 benign 0.34 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs779881861 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65430819G> A null R W 169 169 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1290361431 cosmic curated [Cosmic]: lung cosmic_study:417 3p14.1 3 65430813T> G null S R 171 171 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1438112123 3p14.1 3 65430809C> G null S T 172 172 missense 0.16 benign 0.99 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs745380892 3p14.1 3 65430807G> A null R C 173 173 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,NCI-TCGA,TOPMed,gnomAD rs201982358 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65430806C> T null R H 173 173 missense 0.961 probably damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs756694536 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65430791G> A null T M 178 178 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1033617536 3p14.1 3 65430786C> T null V I 180 180 missense 0.132 benign 1.0 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1033617536 3p14.1 3 65430786C> G null V L 180 180 missense 0.513 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1351784773 3p14.1 3 65430767T> G null D A 186 186 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs111361698 3p14.1 3 65430764T> C null E G 187 187 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs758245838 3p14.1 3 65430753T> G null I L 191 191 missense 0.115 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1400543371 3p14.1 3 65430752A> G null I T 191 191 missense 0.955 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,TOPMed,gnomAD rs377531675 3p14.1 3 65430749T> C null K R 192 192 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs752423135 3p14.1 3 65430741C> T null V I 195 195 missense 0.048 benign 0.7 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1172461833 3p14.1 3 65430732C> T null G S 198 198 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs760945768 3p14.1 3 65430731C> A null G V 198 198 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1191158343 3p14.1 3 65430714C> A null G C 204 204 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs764671209 3p14.1 3 65430137T> A null D V 210 210 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs763609622 3p14.1 3 65430134A> C null V G 211 211 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs746188828 3p14.1 3 65430129C> T null V I 213 213 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1355205643 3p14.1 3 65430122A> G null V A 215 215 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1355205643 3p14.1 3 65430122A> C null V G 215 215 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1264517017 3p14.1 3 65430123C> T null V M 215 215 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs867826374 3p14.1 3 65430117C> T null D N 217 217 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs776381036 3p14.1 3 65430116T> A null D V 217 217 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs770425564 3p14.1 3 65430114T> C null T A 218 218 missense 0.058 benign 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs746542949 3p14.1 3 65430113G> C null T S 218 218 missense 0.151 benign 0.19 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs777207513 3p14.1 3 65430110C> T null C Y 219 219 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1425277661 3p14.1 3 65430107A> C null V G 220 220 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1342802662 3p14.1 3 65430099G> A null H Y 223 223 missense 0.007 benign 0.61 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs748123559 3p14.1 3 65430095G> C null T R 224 224 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP rs148219481 3p14.1 3 65430092T> C null H R 225 225 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs979654908 3p14.1 3 65430087G> C null Q E 227 227 missense 0.535 possibly damaging 0.23 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs979654908 3p14.1 3 65430087G> T null Q K 227 227 missense 0.614 possibly damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559547665 3p14.1 3 65430074A> G null I T 231 231 missense 0.939 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,gnomAD rs149029305 3p14.1 3 65430072A> G null F L 232 232 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs757359782 3p14.1 3 65430068T> A null Q L 233 233 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs757359782 3p14.1 3 65430068T> C null Q R 233 233 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1456472049 3p14.1 3 65430065G> A null S F 234 234 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1456472049 3p14.1 3 65430065G> T null S Y 234 234 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs751789399 3p14.1 3 65430062A> G null I T 235 235 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1219467097 3p14.1 3 65430060G> A null P S 236 236 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs763107470 3p14.1 3 65430045C> T null V M 241 241 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes rs541538402 3p14.1 3 65430035T> C null E G 244 244 2.0E-4 missense 0.768 possibly damaging 0.2 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs765802964 3p14.1 3 65430036C> G null E Q 244 244 missense 0.901 possibly damaging 0.11 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs776804460 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 3p14.1 3 65430026C> T null R Q 247 247 missense 1.0 probably damaging 0.0 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1331701656 3p14.1 3 65430020T> A null Y F 249 249 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs771313266 3p14.1 3 65430011G> C null P R 252 252 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs200287562 3p14.1 3 65429990T> C null N S 259 259 missense 0.068 benign 0.45 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs747606279 3p14.1 3 65429985T> C null S G 261 261 missense 0.629 possibly damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs778851077 3p14.1 3 65429984C> T null S N 261 261 missense 0.701 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl,NCI-TCGA rs779140386 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 3p14.1 3 65429976T> C null T A 264 264 missense 0.151 benign 0.22 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373058271 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65429972G> A null S L 265 265 missense 0.863 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559547493 3p14.1 3 65429961A> T null L M 269 269 missense 0.963 probably damaging 0.34 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1224189075 3p14.1 3 65429955T> C null K E 271 271 missense 0.112 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1306679602 3p14.1 3 65429949G> C null P A 273 273 missense 0.772 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1306679602 3p14.1 3 65429949G> T null P T 273 273 missense 0.955 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs751781676 3p14.1 3 65429940C> T null V M 276 276 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1227337076 3p14.1 3 65429934C> T null G R 278 278 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs199909322 3p14.1 3 65429931G> C null Q E 279 279 missense 0.341 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1439734064 3p14.1 3 65429926C> A null E D 280 280 missense 0.034 benign 0.12 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1368283090 3p14.1 3 65429925T> C null T A 281 281 missense 0.003 benign 0.38 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1294888001 3p14.1 3 65429924G> C null T S 281 281 missense 0.007 benign 0.61 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs988642983 3p14.1 3 65429921T> C null Y C 282 282 missense 0.125 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP rs369326360 3p14.1 3 65429918T> C null D G 283 283 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs765854246 3p14.1 3 65429919C> T null D N 283 283 missense 0.966 probably damaging 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP rs369326360 3p14.1 3 65429918T> A null D V 283 283 missense 0.91 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs760178542 3p14.1 3 65429910C> A null A S 286 286 missense 0.023 benign 0.75 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs754366310 3p14.1 3 65429900C> T null S N 289 289 missense 0.015 benign 0.53 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs766693602 3p14.1 3 65429899A> C null S R 289 289 missense 0.446 possibly damaging 0.53 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1454024214 3p14.1 3 65429897C> G null S T 290 290 missense 0.919 probably damaging 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs761079131 3p14.1 3 65429891G> A null T I 292 292 missense 0.668 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs116889308 3p14.1 3 65429888C> G null G A 293 293 3.99E-4 missense 0.295 benign 0.46 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs116889308 3p14.1 3 65429888C> T null G D 293 293 3.99E-4 missense 0.311 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs747607313 3p14.1 3 65429885T> G null K T 294 294 missense 0.604 possibly damaging 0.14 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,gnomAD rs146937131 3p14.1 3 65429879T> C null N S 296 296 missense 0.003 benign 0.23 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1215102763 3p14.1 3 65429880T> A null N Y 296 296 missense 0.017 benign 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs960330029 3p14.1 3 65429874T> G null M L 298 298 missense 0.012 benign 1.0 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs775480118 3p14.1 3 65429871T> C null K E 299 299 missense 0.291 benign 0.4 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559547328 3p14.1 3 65429869C> G null K N 299 299 missense 0.007 benign 0.19 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1286845180 3p14.1 3 65429866A> C null D E 300 300 missense 0.009 benign 0.76 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs745637611 3p14.1 3 65429867T> A null D V 300 300 missense 0.046 benign 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs769503539 3p14.1 3 65429868C> A null D Y 300 300 missense 0.739 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs141393129 3p14.1 3 65429865C> A null A S 301 301 missense 0.047 benign 0.69 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs141393129 3p14.1 3 65429865C> T null A T 301 301 missense 0.371 benign 0.55 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs758636836 3p14.1 3 65429856T> G null S R 304 304 missense 0.446 possibly damaging 0.41 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs144404010 3p14.1 3 65429852C> T null S N 305 305 missense 0.854 possibly damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1375987020 3p14.1 3 65429851G> T null S R 305 305 missense 0.931 probably damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1436386931 3p14.1 3 65429850G> A null P S 306 306 missense 0.376 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs755079504 3p14.1 3 65429846G> T null A E 307 307 missense 0.112 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs755079504 3p14.1 3 65429846G> A null A V 307 307 missense 0.118 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1410112297 3p14.1 3 65429843T> C null D G 308 308 missense 0.001 benign 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs151058544 3p14.1 3 65429841C> G null V L 309 309 5.99E-4 missense 0.013 benign 0.28 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs151058544 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65429841C> T null V M 309 309 5.99E-4 missense 0.681 possibly damaging 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs146288848 3p14.1 3 65429838C> G null A P 310 310 missense 0.026 benign 0.18 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs146288848 3p14.1 3 65429838C> T null A T 310 310 missense 0.015 benign 0.15 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs767167390 3p14.1 3 65429828C> A null S I 313 313 missense 0.076 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1210777644 3p14.1 3 65429825G> C null S C 314 314 missense 0.849 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1280131870 3p14.1 3 65429821A> C null H Q 315 315 missense 0.009 benign 0.16 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs761508333 NCI-TCGA Cosmic [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 3p14.1 3 65429822T> C null H R 315 315 missense 0.156 benign 0.06 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs773984298 3p14.1 3 65429820C> A null G C 316 316 missense 0.893 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200229876 3p14.1 3 65429816T> C null Y C 317 317 3.99E-4 missense 0.976 probably damaging 0.1 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200229876 3p14.1 3 65429816T> A null Y F 317 317 3.99E-4 missense 0.899 possibly damaging 0.4 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1276107432 3p14.1 3 65429813G> C null P R 318 318 missense 0.881 possibly damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1220284345 3p14.1 3 65429805T> A null T S 321 321 missense 0.31 benign 0.55 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs769707840 3p14.1 3 65429802C> G null V L 322 322 missense 0.743 possibly damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs905693586 3p14.1 3 65429777G> A null T I 330 330 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs776627583 3p14.1 3 65429772G> T null P T 332 332 missense 0.936 probably damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1466771759 3p14.1 3 65429768T> G null E A 333 333 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1479038251 3p14.1 3 65429762A> G null I T 335 335 missense 0.945 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs770847623 3p14.1 3 65429763T> C null I V 335 335 missense 0.639 possibly damaging 0.34 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1396930439 3p14.1 3 65429760T> C null T A 336 336 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs748421084 3p14.1 3 65429757C> A null V F 337 337 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs748421084 3p14.1 3 65429757C> T null V I 337 337 missense 0.212 benign 0.44 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs868813342 3p14.1 3 65429754G> A null H Y 338 338 missense 0.925 probably damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559547047 3p14.1 3 65429747A> G null V A 340 340 missense 0.716 possibly damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs779253317 3p14.1 3 65429744T> C null K R 341 341 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559547019 3p14.1 3 65429742C> G null G R 342 342 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs368984076 3p14.1 3 65429739G> A null P S 343 343 missense 0.327 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs140177021 3p14.1 3 65429734C> T null M I 344 344 missense 0.362 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs558455871 3p14.1 3 65429736T> A null M L 344 344 2.0E-4 missense 0.201 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs558455871 3p14.1 3 65429736T> C null M V 344 344 2.0E-4 missense 0.362 benign 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1052404683 3p14.1 3 65429726C> G null G A 347 347 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1255815674 3p14.1 3 65429727C> T null G S 347 347 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs750913226 3p14.1 3 65429718T> C null I V 350 350 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs751238481 3p14.1 3 65429715C> A null A S 351 351 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs751238481 3p14.1 3 65429715C> T null A T 351 351 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1342150402 3p14.1 3 65429709T> C null S G 353 353 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs762378009 3p14.1 3 65429708C> T null S N 353 353 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC rs775011550 3p14.1 3 65429706G> A null P S 354 354 missense 0.957 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1396723050 3p14.1 3 65429699C> A null G V 356 356 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs935326560 3p14.1 3 65429700C> A null G W 356 356 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs764641378 3p14.1 3 65429696C> G null G A 357 357 missense 0.962 probably damaging 0.15 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs764641378 3p14.1 3 65429696C> T null G D 357 357 missense 0.983 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1467313827 3p14.1 3 65429694C> T null G S 358 358 missense 0.988 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1303312970 3p14.1 3 65429687C> A null R I 360 360 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed rs375879494 3p14.1 3 65429680T> A null K N 362 362 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC rs372931447 3p14.1 3 65429679G> C null Q E 363 363 missense 0.854 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1188831138 3p14.1 3 65429660C> T null R K 369 369 missense 0.89 possibly damaging 0.17 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP rs141668371 3p14.1 3 65429656G> C null C W 370 370 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,gnomAD rs376397867 3p14.1 3 65429654C> T null R Q 371 371 missense 0.956 probably damaging 0.24 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1457894278 3p14.1 3 65429644T> G null K N 374 374 missense 0.779 possibly damaging 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1272350547 3p14.1 3 65429637C> A null D Y 377 377 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs922072859 3p14.1 3 65429630A> G null I T 379 379 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs867984285 cosmic curated [Cosmic]: skin, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22842228,cosmic_study:511 3p14.1 3 65429625C> T null E K 381 381 missense 0.981 probably damaging 0.0 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs769754175 3p14.1 3 65429622C> T null V I 382 382 missense 0.47 possibly damaging 0.72 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs781646475 3p14.1 3 65429617A> C null N K 383 383 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs746412433 3p14.1 3 65429618T> C null N S 383 383 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs535566803 3p14.1 3 65429606A> G null V A 387 387 3.99E-4 missense 0.79 possibly damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs777307822 3p14.1 3 65429607C> A null V L 387 387 missense 0.985 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs777307822 3p14.1 3 65429607C> T null V M 387 387 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs751502191 3p14.1 3 65429601C> G null A P 389 389 missense 0.653 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs751502191 3p14.1 3 65429601C> T null A T 389 389 missense 0.167 benign 0.21 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs879119210 3p14.1 3 65429589T> G null N H 393 393 missense 0.861 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs758948172 3p14.1 3 65429588T> C null N S 393 393 missense 0.023 benign 0.64 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1419561984 3p14.1 3 65429586G> C null Q E 394 394 missense 0.058 benign 0.16 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs959693670 3p14.1 3 65429583C> G null V L 395 395 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs766377026 3p14.1 3 65429576T> G null D A 397 397 missense 0.894 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs771747868 3p14.1 3 65429563C> A null E D 401 401 missense 0.907 possibly damaging 0.23 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1399969062 3p14.1 3 65429565C> T null E K 401 401 missense 0.205 benign 0.49 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs960379551 3p14.1 3 65429558G> C null P R 403 403 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs775542045 3p14.1 3 65429556T> C null K E 404 404 missense 0.7 possibly damaging 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs775542045 3p14.1 3 65429556T> G null K Q 404 404 missense 0.843 possibly damaging 0.12 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs375975939 3p14.1 3 65429547C> T null E K 407 407 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs375975939 3p14.1 3 65429547C> G null E Q 407 407 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs570431400 3p14.1 3 65429525C> A null R L 414 414 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs570431400 3p14.1 3 65429525C> T null R Q 414 414 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1295508218 3p14.1 3 65401470C> A null G V 416 416 missense 0.601 possibly damaging 0.22 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1178267348 3p14.1 3 65401455T> C null K R 421 421 missense 0.07 benign 0.36 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs772391343 3p14.1 3 65401450T> C null S G 423 423 missense 0.042 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs748558147 3p14.1 3 65401449C> T null S N 423 423 missense 0.798 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs774636249 3p14.1 3 65401447G> A null P S 424 424 missense 0.332 benign 0.11 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs762292211 3p14.1 3 65391354G> A null P L 428 428 missense 0.164 benign 0.16 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs938844765 3p14.1 3 65391349C> A null E * 430 430 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs938844765 3p14.1 3 65391349C> T null E K 430 430 missense 0.112 benign 0.22 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1160114408 3p14.1 3 65391345C> A null R M 431 431 missense 0.953 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs865866560 3p14.1 3 65391341T> A null K N 432 432 missense 0.868 possibly damaging 0.18 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1432763176 3p14.1 3 65391342T> G null K T 432 432 missense 0.798 possibly damaging 0.22 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1423535373 3p14.1 3 65391338G> C null D E 433 433 missense 0.857 possibly damaging 0.37 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs769187520 3p14.1 3 65391336C> T null S N 434 434 missense 0.894 possibly damaging 0.2 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1342439292 3p14.1 3 65391328T> A null S C 437 437 missense 0.893 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1490607210 3p14.1 3 65391326A> C null S R 437 437 missense 0.108 benign 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1215080035 3p14.1 3 65391318T> A null H L 440 440 missense 0.158 benign 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs763358402 3p14.1 3 65391319G> A null H Y 440 440 missense 0.43 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs769516378 3p14.1 3 65391316T> A null S C 441 441 missense 0.151 benign 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs769516378 3p14.1 3 65391316T> C null S G 441 441 missense 0.721 possibly damaging 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs780637413 3p14.1 3 65391301G> A null R * 446 446 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs770448480 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65391300C> T null R Q 446 446 missense 0.565 possibly damaging 0.05 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1223945422 3p14.1 3 65391298T> C null S G 447 447 missense 0.311 benign 0.05 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1359252531 3p14.1 3 65391291T> C null H R 449 449 missense 0.931 probably damaging 0.1 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs973793749 3p14.1 3 65391283A> G null S P 452 452 missense 0.977 probably damaging 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1296339464 3p14.1 3 65391276C> T null S N 454 454 missense 0.076 benign 0.31 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1401699174 3p14.1 3 65391275G> C null S R 454 454 missense 0.15 benign 0.35 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1362554729 3p14.1 3 65391273T> C null H R 455 455 missense 0.048 benign 0.14 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs777639807 3p14.1 3 65391269G> T null S R 456 456 missense 0.446 possibly damaging 0.11 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61740330 3p14.1 3 65391268T> G null T P 457 457 0.001797 missense 0.735 possibly damaging 0.33 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs752424969 3p14.1 3 65391267G> C null T R 457 457 missense 0.668 possibly damaging 0.27 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs61740330 3p14.1 3 65391268T> A null T S 457 457 0.001797 missense 0.041 benign 0.75 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs756347559 3p14.1 3 65391263C> A null Q H 458 458 missense 0.861 possibly damaging 0.12 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs201132775 3p14.1 3 65391261A> C null V G 459 459 missense 0.001 benign 0.48 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs960638727 3p14.1 3 65391259G> A null L F 460 460 missense 0.166 benign 0.14 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1440146574 3p14.1 3 65391255G> C null P R 461 461 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559517701 3p14.1 3 65391253C> T null E K 462 462 missense 0.11 benign 0.26 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1261852474 3p14.1 3 65391247G> A null P S 464 464 missense 0.318 benign 0.1 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1465031055 3p14.1 3 65391241C> T null A T 466 466 missense 0.006 benign 0.25 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1358594886 3p14.1 3 65391240G> A null A V 466 466 missense 0.076 benign 0.19 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1257455862 3p14.1 3 65391236C> G null E D 467 467 missense 0.013 benign 0.29 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs374454357 3p14.1 3 65391237T> C null E G 467 467 missense 0.39 benign 0.18 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1035966751 3p14.1 3 65391231T> G null Q P 469 469 missense 0.0 benign 1.0 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs572527250 3p14.1 3 65391222T> C null D G 472 472 2.0E-4 missense 0.517 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1276010386 3p14.1 3 65391216G> A null T I 474 474 missense 0.007 benign 0.33 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1417361274 3p14.1 3 65391204C> G null G A 478 478 missense 0.069 benign 0.43 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs776057848 3p14.1 3 65391200C> G null Q H 479 479 missense 0.989 probably damaging 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1192689499 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23292937,cosmic_study:482 3p14.1 3 65391199T> C null K E 480 480 missense 0.501 possibly damaging 0.06 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs759154568 3p14.1 3 65391192G> T null P Q 482 482 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs770193154 3p14.1 3 65391193G> A null P S 482 482 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs770193154 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [Cosmic]: central_nervous_system, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,pubmed:23917401,cosmic_study:329,cosmic_study:376,cosmic_study:440,cosmic_study:552 3p14.1 3 65391193G> T null P T 482 482 missense 0.998 probably damaging 0.01 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs746590380 3p14.1 3 65391187G> T null P T 484 484 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1400151222 3p14.1 3 65391174C> G null W S 488 488 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1338949917 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65391171G> A null A V 489 489 missense 0.97 probably damaging 0.16 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs770370338 3p14.1 3 65391167C> G null Q H 490 490 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1245945362 3p14.1 3 65391163T> A null R W 492 492 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs777693118 3p14.1 3 65391153T> C null Y C 495 495 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559517582 3p14.1 3 65391145G> A null R * 498 498 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs180991722 3p14.1 3 65391144C> A null R L 498 498 9.98E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs180991722 3p14.1 3 65391144C> T null R Q 498 498 9.98E-4 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs778744814 3p14.1 3 65391142G> A null L F 499 499 missense 0.011 benign 0.72 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1169647220 3p14.1 3 65383623A> T null L H 499 499 missense 0.789 possibly damaging 0.54 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs377256709 3p14.1 3 65383621G> C null P A 500 500 missense 0.481 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1458278662 3p14.1 3 65383614T> C null Y C 502 502 missense 0.022 benign 0.12 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,gnomAD rs201912749 3p14.1 3 65383612G> A null Q * 503 503 2.0E-4 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559512100 3p14.1 3 65383607T> A null E D 504 504 missense 0.55 possibly damaging 0.38 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs978491426 3p14.1 3 65383605T> A null Q L 505 505 missense 0.027 benign 1.0 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1248678246 3p14.1 3 65383600T> A null I F 507 507 missense 0.923 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1418759557 3p14.1 3 65383593A> G null L P 509 509 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs756501564 3p14.1 3 65383589C> T null W * 510 510 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1181999915 3p14.1 3 65383587C> A null R I 511 511 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs750716620 3p14.1 3 65383580C> A null E D 513 513 missense 0.02 benign 0.46 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1199997965 3p14.1 3 65383582C> T null E K 513 513 missense 0.028 benign 0.38 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs756990030 3p14.1 3 65383543G> C null P A 526 526 missense 0.111 benign 0.23 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs756990030 3p14.1 3 65383543G> A null P S 526 526 missense 0.852 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs751143382 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65383537C> T null E K 528 528 missense 0.561 possibly damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1215600256 3p14.1 3 65383534G> A null P S 529 529 missense 0.888 possibly damaging 0.17 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs376560565 3p14.1 3 65382051C> T null V I 536 536 missense 0.292 benign 0.92 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1385867661 3p14.1 3 65382048G> A null P S 537 537 missense 0.391 benign 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1158286140 3p14.1 3 65382045G> C null L V 538 538 missense 0.061 benign 0.22 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs753798139 3p14.1 3 65382032T> A null D V 542 542 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs941929595 3p14.1 3 65382029G> A null T I 543 543 missense 0.098 benign 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs764151093 3p14.1 3 65382024C> T null G S 545 545 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,NCI-TCGA,gnomAD rs371939525 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 3p14.1 3 65382021G> A null R C 546 546 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs375197593 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 3p14.1 3 65382020C> T null R H 546 546 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs375197593 3p14.1 3 65382020C> A null R L 546 546 2.0E-4 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs201936743 3p14.1 3 65382014C> G null R T 548 548 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1285118536 3p14.1 3 65382008C> G null G A 550 550 missense 1.0 probably damaging 0.19 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,gnomAD rs557781972 3p14.1 3 65381994A> G null C R 555 555 2.0E-4 missense 0.877 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1178755017 3p14.1 3 65381985C> T null G R 558 558 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs541514140 3p14.1 3 65381981G> A null T M 559 559 missense 0.983 probably damaging 0.05 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1415250730 3p14.1 3 65381971A> C null I M 562 562 missense 0.424 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs375183927 3p14.1 3 65381972A> G null I T 562 562 missense 0.098 benign 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1451685272 3p14.1 3 65381961G> A null H Y 566 566 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs976177103 3p14.1 3 65381956C> G null Q H 567 567 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs747801179 3p14.1 3 65381954A> G null L P 568 568 missense 0.583 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs754512219 3p14.1 3 65381939A> C null M R 573 573 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1260723907 3p14.1 3 65381934G> T null Q K 575 575 missense 0.409 benign 0.19 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1202248296 3p14.1 3 65381933T> C null Q R 575 575 missense 0.513 possibly damaging 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1204814123 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 3p14.1 3 65381924T> C null K R 578 578 missense 0.279 benign 1.0 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1263057498 3p14.1 3 65381921T> C null Q R 579 579 missense 0.885 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs896243622 3p14.1 3 65381918C> A null G V 580 580 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs988408727 3p14.1 3 65381913C> T null V I 582 582 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1208907625 3p14.1 3 65381907G> A null L F 584 584 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs755937804 3p14.1 3 65381904T> C null T A 585 585 missense 0.452 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs750128468 3p14.1 3 65381903G> A null T M 585 585 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs763226685 3p14.1 3 65381900A> G null V A 586 586 missense 0.452 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs140857612 3p14.1 3 65381897C> T null R Q 587 587 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1293324266 cosmic curated [Cosmic]: skin pubmed:22622578,cosmic_study:388 3p14.1 3 65381898G> A null R W 587 587 missense 0.994 probably damaging 0.0 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs765325696 3p14.1 3 65381895G> A null R C 588 588 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1289675503 3p14.1 3 65381894C> T null R H 588 588 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1289675503 3p14.1 3 65381894C> A null R L 588 588 missense 0.634 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs759574344 3p14.1 3 65381886C> A null V F 591 591 missense 0.325 benign 0.85 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs200362587 3p14.1 3 65381879G> C null A G 593 593 2.0E-4 missense 0.022 benign 1.0 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200362587 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver, [Cosmic]: lung cosmic_study:323,cosmic_study:418 3p14.1 3 65381879G> A null A V 593 593 2.0E-4 missense 0.063 benign 0.01 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs979246255 3p14.1 3 65381877C> G null V L 594 594 missense 0.005 benign 0.43 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs768361954 3p14.1 3 65379552G> C null P A 595 595 missense 0.003 benign 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1357361065 3p14.1 3 65379551G> A null P L 595 595 missense 0.005 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1317429593 3p14.1 3 65379549T> G null K Q 596 596 missense 0.802 possibly damaging 0.52 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs748935727 3p14.1 3 65379548T> C null K R 596 596 missense 0.71 possibly damaging 0.3 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs868582426 3p14.1 3 65379545G> A null T I 597 597 missense 0.038 benign 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs370716808 3p14.1 3 65379538G> T null N K 599 599 missense 0.365 benign 0.39 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs143546019 3p14.1 3 65379537C> T null E K 600 600 missense 0.092 benign 0.11 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs143546019 3p14.1 3 65379537C> G null E Q 600 600 missense 0.611 possibly damaging 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs757052038 3p14.1 3 65379534C> A null V L 601 601 missense 0.036 benign 0.24 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs757052038 3p14.1 3 65379534C> T null V M 601 601 missense 0.085 benign 0.11 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1303066051 cosmic curated [Cosmic]: liver cosmic_study:323 3p14.1 3 65379531G> A null P S 602 602 missense 0.535 possibly damaging 0.04 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,NCI-TCGA,gnomAD rs202069482 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65379527G> A null S L 603 603 2.0E-4 missense 0.448 possibly damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1386153557 3p14.1 3 65379524G> A null P L 604 604 missense 0.049 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs777531492 3p14.1 3 65379522C> T null A T 605 605 missense 0.815 possibly damaging 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs560981424 3p14.1 3 65379521G> A null A V 605 605 missense 0.396 benign 0.45 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1027102265 3p14.1 3 65379518G> A null S F 606 606 missense 0.921 probably damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1027102265 3p14.1 3 65379518G> T null S Y 606 606 missense 0.945 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs754063810 3p14.1 3 65379515G> C null S C 607 607 missense 0.071 benign 0.1 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs754063810 3p14.1 3 65379515G> A null S F 607 607 missense 0.745 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs766421426 3p14.1 3 65379507T> C null S G 610 610 missense 0.888 possibly damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs143734705 3p14.1 3 65379506C> T null S N 610 610 missense 0.958 probably damaging 0.14 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1270299693 3p14.1 3 65379504T> C null S G 611 611 missense 0.087 benign 0.12 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1017842743 3p14.1 3 65379503C> G null S T 611 611 missense 0.457 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,gnomAD rs527701578 3p14.1 3 65379501T> C null N D 612 612 2.0E-4 missense 0.333 benign 0.31 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs768067706 3p14.1 3 65379498G> T null Q K 613 613 missense 0.561 possibly damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141306692 3p14.1 3 65379494G> A null P L 614 614 2.0E-4 missense 0.143 benign 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs774910493 3p14.1 3 65379492C> T null A T 615 615 missense 0.205 benign 0.26 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs764548432 3p14.1 3 65379491G> A null A V 615 615 missense 0.13 benign 0.28 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1185103504 3p14.1 3 65379488G> A null S L 616 616 missense 0.012 benign 0.05 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs745320055 3p14.1 3 65379477C> T null E K 620 620 missense 0.669 possibly damaging 0.26 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs745320055 3p14.1 3 65379477C> G null E Q 620 620 missense 0.796 possibly damaging 0.65 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs770913746 3p14.1 3 65379471G> A null R C 622 622 missense 0.962 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs368569997 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:413 3p14.1 3 65379470C> T null R H 622 622 2.0E-4 missense 0.355 benign 0.13 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs763320183 3p14.1 3 65379467G> A null T I 623 623 missense 0.283 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs758170584 3p14.1 3 65379468T> G null T P 623 623 missense 0.782 possibly damaging 0.18 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs201945322 3p14.1 3 65379464G> A null P L 624 624 5.99E-4 missense 0.018 benign 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs201945322 3p14.1 3 65379464G> C null P R 624 624 5.99E-4 missense 0.872 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1269471035 3p14.1 3 65379465G> A null P S 624 624 missense 0.087 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs750455235 3p14.1 3 65379459C> T null G S 626 626 missense 0.79 possibly damaging 0.33 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1266313997 3p14.1 3 65379443A> C null L R 631 631 missense 0.897 possibly damaging 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1262861100 3p14.1 3 65379440T> C null N S 632 632 missense 0.067 benign 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs757905500 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 3p14.1 3 65379437G> A null T M 633 633 missense 0.812 possibly damaging 0.07 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs775012081 cosmic curated [Cosmic]: kidney pubmed:20054297,cosmic_study:236,cosmic_study:240 3p14.1 3 65379428G> A null S L 636 636 missense 0.071 benign 0.03 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs759097317 3p14.1 3 65379417T> C null S G 640 640 missense 0.164 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559509108 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65379408C> T null G S 643 643 missense 0.048 benign 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs907629771 3p14.1 3 65379404A> C null I S 644 644 missense 0.344 benign 0.31 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1260087353 3p14.1 3 65379399T> G null S R 646 646 missense 0.966 probably damaging 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1429975064 3p14.1 3 65379393C> T null G S 648 648 missense 0.024 benign 0.21 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs140952372 3p14.1 3 65379386C> G null G A 650 650 missense 0.041 benign 0.32 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1240372581 3p14.1 3 65379387C> T null G R 650 650 missense 0.023 benign 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1242730392 3p14.1 3 65379383C> G null G A 651 651 missense 0.067 benign 0.33 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1242730392 3p14.1 3 65379383C> T null G D 651 651 missense 0.022 benign 0.1 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1341127629 3p14.1 3 65379381T> C null S G 652 652 missense 0.011 benign 0.14 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs370681942 3p14.1 3 65379379G> T null S R 652 652 missense 0.035 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1202229746 3p14.1 3 65379380C> G null S T 652 652 missense 0.036 benign 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs756412481 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 3p14.1 3 65379375C> T null V M 654 654 missense 0.781 possibly damaging 0.04 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559509007 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65379371A> C null V G 655 655 missense 0.205 benign 0.05 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1336903882 3p14.1 3 65379365G> A null T I 657 657 missense 0.098 benign 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs928574212 3p14.1 3 65379363C> A null V L 658 658 missense 0.325 benign 0.28 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs928574212 3p14.1 3 65379363C> T null V M 658 658 missense 0.852 possibly damaging 0.09 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP rs138724998 3p14.1 3 65379360C> G null V L 659 659 missense 0.0 benign 1.0 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs746069792 3p14.1 3 65379356T> C null Q R 660 660 missense 0.103 benign 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs781460712 3p14.1 3 65379350T> C null Y C 662 662 missense 0.879 possibly damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1391584193 3p14.1 3 65379347T> G null D A 663 663 missense 0.72 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs149468264 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 3p14.1 3 65379345C> T null V M 664 664 missense 0.95 probably damaging 0.0 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs199554026 3p14.1 3 65379342C> T null E K 665 665 missense 0.155 benign 0.3 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140787779 3p14.1 3 65379335C> G null R P 667 667 9.98E-4 missense 0.802 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140787779 3p14.1 3 65379335C> T null R Q 667 667 9.98E-4 missense 0.038 benign 0.98 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,gnomAD rs150383800 3p14.1 3 65379336G> A null R W 667 667 missense 0.886 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1384914199 3p14.1 3 65379333G> A null R C 668 668 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1181900565 3p14.1 3 65379332C> T null R H 668 668 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1384914199 3p14.1 3 65379333G> T null R S 668 668 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559508898 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: NS pubmed:24265154,cosmic_study:526 3p14.1 3 65379329C> T null G E 669 669 missense 0.155 benign 0.09 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1238360124 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65379330C> T null G R 669 669 missense 0.125 benign 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1347537384 3p14.1 3 65379327C> T null E K 670 670 missense 0.185 benign 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1204473470 3p14.1 3 65379321C> A null E * 672 672 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1275692187 3p14.1 3 65379311C> T null G D 675 675 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1206631925 3p14.1 3 65379305A> C null V G 677 677 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs753471850 3p14.1 3 65379306C> T null V I 677 677 missense 0.182 benign 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1312470413 3p14.1 3 65379300C> G null V L 679 679 missense 0.526 possibly damaging 0.44 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1312470413 3p14.1 3 65379300C> T null V M 679 679 missense 0.93 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1268519875 3p14.1 3 65379287C> A null S I 683 683 missense 0.767 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs760140821 3p14.1 3 65379285T> C null R G 684 684 missense 0.45 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1329446111 3p14.1 3 65379282G> T null P T 685 685 missense 0.978 probably damaging 0.05 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1364971904 cosmic curated [Cosmic]: skin pubmed:22842228,cosmic_study:511 3p14.1 3 65379279C> T null E K 686 686 missense 0.059 benign 0.08 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs771985580 3p14.1 3 65379275G> T null A E 687 687 missense 0.71 possibly damaging 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs761639684 3p14.1 3 65379269G> T null T K 689 689 missense 0.979 probably damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs761639684 3p14.1 3 65379269G> A null T M 689 689 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1446624445 3p14.1 3 65379270T> A null T S 689 689 missense 0.525 possibly damaging 0.19 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1240097926 3p14.1 3 65379266G> A null T I 690 690 missense 0.091 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1239319442 3p14.1 3 65375942T> C null N S 693 693 missense 0.072 benign 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs756672225 3p14.1 3 65375937A> G null C R 695 695 missense 0.953 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1367683733 3p14.1 3 65375934C> A null V L 696 696 missense 0.135 benign 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs763870274 3p14.1 3 65375930G> A null A V 697 697 missense 0.857 possibly damaging 0.26 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1404287128 3p14.1 3 65375926C> A null M I 698 698 missense 0.439 benign 0.59 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs947994082 3p14.1 3 65375927A> T null M K 698 698 missense 0.885 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs762972419 3p14.1 3 65375928T> C null M V 698 698 missense 0.076 benign 0.81 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1174038051 3p14.1 3 65375915A> G null I T 702 702 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs765094156 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 3p14.1 3 65375909C> T null R Q 704 704 missense 0.998 probably damaging 0.04 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1372974364 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65375910G> A null R W 704 704 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1390474343 3p14.1 3 65375899C> G null E D 707 707 missense 0.821 possibly damaging 0.19 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs887591651 3p14.1 3 65375901C> T null E K 707 707 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs773262025 3p14.1 3 65375894C> G null S T 709 709 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs772228910 3p14.1 3 65375889C> T null A T 711 711 missense 1.0 probably damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1248534265 3p14.1 3 65375886C> G null D H 712 712 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs774938423 3p14.1 3 65375883G> A null R C 713 713 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs774938423 3p14.1 3 65375883G> C null R G 713 713 missense 0.946 probably damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs142788987 3p14.1 3 65375882C> T null R H 713 713 missense 0.109 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs968818895 3p14.1 3 65375879C> T null C Y 714 714 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs749789614 3p14.1 3 65375868T> G null K Q 718 718 missense 0.853 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1020905876 3p14.1 3 65375855C> T null R Q 722 722 missense 0.924 probably damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,TOPMed,gnomAD rs201650657 3p14.1 3 65375856G> A null R W 722 722 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs780434014 3p14.1 3 65375849A> C null L W 724 724 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs745555624 3p14.1 3 65375846G> T null A E 725 725 missense 0.999 probably damaging 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs756445885 3p14.1 3 65375847C> G null A P 725 725 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1257992388 3p14.1 3 65375843A> G null V A 726 726 missense 0.95 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1203465332 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65375840T> C null N S 727 727 missense 0.442 benign 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs756795614 3p14.1 3 65375834C> T null C Y 729 729 missense 0.481 possibly damaging 0.19 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,TOPMed,gnomAD rs376161036 3p14.1 3 65375831G> C null S C 730 730 missense 0.304 benign 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,TOPMed,gnomAD rs376161036 3p14.1 3 65375831G> A null S F 730 730 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs774033144 3p14.1 3 65375822T> C null N S 733 733 missense 0.012 benign 0.21 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1162562165 3p14.1 3 65375819_65375820insAATTTAGTGGCAGCTTT A null K IKLPLN* 734 734 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1442352910 3p14.1 3 65375816G> T null S Y 735 735 missense 0.891 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1188059104 3p14.1 3 65375814G> A null H Y 736 736 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1248418047 3p14.1 3 65375805T> C null I V 739 739 missense 0.702 possibly damaging 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,gnomAD rs371746914 3p14.1 3 65375790T> C null K E 744 744 missense 0.848 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP rs145856320 3p14.1 3 65375789T> C null K R 744 744 missense 0.227 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs765149482 3p14.1 3 65375784C> T null A T 746 746 missense 0.918 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs554050964 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 3p14.1 3 65375783G> A null A V 746 746 missense 0.643 possibly damaging 0.0 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs767581703 3p14.1 3 65375775T> C null T A 749 749 missense 0.452 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs774357236 3p14.1 3 65375763G> A null R C 753 753 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs768689132 3p14.1 3 65375762C> T null R H 753 753 missense 0.117 benign 0.12 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1345266520 3p14.1 3 65375750C> G null G A 757 757 missense 0.774 possibly damaging 0.1 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs749840027 3p14.1 3 65375751C> T null G R 757 757 missense 0.376 benign 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs775925540 3p14.1 3 65375748C> A null D Y 758 758 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs574932979 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 3p14.1 3 65364940G> A null S L 761 761 2.0E-4 missense 0.519 possibly damaging 0.05 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP rs147286102 3p14.1 3 65364937T> A null N I 762 762 missense 0.257 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs768079102 3p14.1 3 65364935C> T null A T 763 763 missense 0.329 benign 0.21 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1229938644 3p14.1 3 65364920T> G null N H 768 768 missense 0.916 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs769827275 3p14.1 3 65364911T> C null K E 771 771 missense 0.79 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs745800026 3p14.1 3 65364908T> A null I F 772 772 missense 0.831 possibly damaging 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs867893969 3p14.1 3 65364905C> A null A S 773 773 missense 0.155 benign 0.48 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs867893969 3p14.1 3 65364905C> T null A T 773 773 missense 0.343 benign 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs781014591 3p14.1 3 65364902T> A null T S 774 774 missense 0.171 benign 0.32 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs756997508 3p14.1 3 65364899T> C null I V 775 775 missense 0.171 benign 0.12 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1034086888 3p14.1 3 65364889G> T null T K 778 778 missense 0.236 benign 0.17 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC rs779125903 3p14.1 3 65364887G> A null H Y 779 779 missense 0.481 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs999890769 3p14.1 3 65364883G> T null T N 780 780 missense 0.373 benign 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs754010597 3p14.1 3 65364880G> A null P L 781 781 missense 0.674 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs77560728 3p14.1 3 65364877G> A null S F 782 782 missense 0.648 possibly damaging 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1391269180 3p14.1 3 65364874T> C null Q R 783 783 missense 0.514 possibly damaging 0.14 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs768012585 3p14.1 3 65364865G> A null T I 786 786 missense 0.028 benign 0.11 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs768012585 3p14.1 3 65364865G> T null T N 786 786 missense 0.18 benign 0.21 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1041901924 3p14.1 3 65364858C> A null E D 788 788 missense 0.798 possibly damaging 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1388344023 3p14.1 3 65364859T> C null E G 788 788 missense 0.74 possibly damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1186629523 3p14.1 3 65364860C> T null E K 788 788 missense 0.798 possibly damaging 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs755667537 3p14.1 3 65364856G> A null T I 789 789 missense 0.44 benign 0.39 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs755667537 3p14.1 3 65364856G> C null T R 789 789 missense 0.642 possibly damaging 0.37 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs781735668 3p14.1 3 65364723T> C null N S 791 791 missense 0.228 benign 0.28 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1053443162 3p14.1 3 65364720G> C null T S 792 792 missense 0.006 benign 0.64 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1370387487 3p14.1 3 65364717G> T null T N 793 793 missense 0.444 benign 0.12 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1164510268 3p14.1 3 65364713T> A null K N 794 794 missense 0.303 benign 0.1 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1182769653 3p14.1 3 65364708T> C null K R 796 796 missense 0.17 benign 0.14 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs757707422 3p14.1 3 65364706G> C null Q E 797 797 missense 0.07 benign 0.23 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs937633194 3p14.1 3 65364705T> G null Q P 797 797 missense 0.003 benign 0.2 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1393758989 3p14.1 3 65364703C> T null E K 798 798 missense 0.164 benign 0.24 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1319130386 3p14.1 3 65364696T> G null Q P 800 800 missense 0.014 benign 0.3 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1319130386 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65364696T> C null Q R 800 800 missense 0.026 benign 0.38 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1384949662 3p14.1 3 65364691C> T null E K 802 802 missense 0.158 benign 0.36 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs752017880 3p14.1 3 65364687A> T null F Y 803 803 missense 0.03 benign 0.63 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs764361449 3p14.1 3 65364684T> A null K I 804 804 missense 0.493 possibly damaging 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs762706081 3p14.1 3 65364682C> A null A S 805 805 missense 0.031 benign 0.45 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed rs764759916 3p14.1 3 65364673C> A null A S 808 808 missense 0.108 benign 0.57 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs764813698 3p14.1 3 65363607T> C null E G 811 811 missense 0.149 benign 0.09 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs201532034 3p14.1 3 65363608C> T null E K 811 811 missense 0.199 benign 0.1 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs201532034 3p14.1 3 65363608C> G null E Q 811 811 missense 0.34 benign 0.1 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1180285797 3p14.1 3 65363600A> C null D E 813 813 missense 0.017 benign 0.66 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1363780704 3p14.1 3 65363590C> G null V L 817 817 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1175016578 3p14.1 3 65363569T> C null K E 824 824 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs866169954 3p14.1 3 65363566C> T null G R 825 825 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1373122864 3p14.1 3 65363551G> A null L F 830 830 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs925137709 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 3p14.1 3 65363548G> A null R * 831 831 missense 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs572896098 3p14.1 3 65363538C> T null R Q 834 834 2.0E-4 missense 0.934 probably damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1308272454 3p14.1 3 65363525C> T null M I 838 838 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559890741 3p14.1 3 65363524C> A null D Y 839 839 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs767372794 3p14.1 3 65363517T> C null Y C 841 841 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,NCI-TCGA,gnomAD rs141617754 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65363509G> A null R C 844 844 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs775865692 3p14.1 3 65363508C> T null R H 844 844 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1473643642 3p14.1 3 65363506A> C null L V 845 845 missense 0.982 probably damaging 0.09 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs770197511 3p14.1 3 65363502G> C null A G 846 846 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs770893503 3p14.1 3 65363494C> T null G S 849 849 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1210816472 3p14.1 3 65363487G> A null A V 851 851 missense 1.0 probably damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1210359283 3p14.1 3 65363480C> A null R S 853 853 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1015348608 3p14.1 3 65363482T> A null R W 853 853 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs779247838 3p14.1 3 65363479A> C null C G 854 854 missense 0.146 benign 0.09 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs779247838 3p14.1 3 65363479A> G null C R 854 854 missense 0.452 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs113893379 3p14.1 3 65361330T> C null D G 861 861 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1346499063 3p14.1 3 65361328C> A null E * 862 862 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs755291131 3p14.1 3 65361321A> G null L S 864 864 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs748965783 3p14.1 3 65361318T> A null E V 865 865 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1299578307 3p14.1 3 65361316T> C null I V 866 866 missense 0.832 possibly damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1339810393 3p14.1 3 65361303G> A null T I 870 870 missense 0.865 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1256799592 3p14.1 3 65361285T> C null H R 876 876 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs749957286 3p14.1 3 65361282G> A null S F 877 877 missense 0.789 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs767047773 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65361279C> T null R Q 878 878 missense 0.66 possibly damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs370182220 3p14.1 3 65361273A> T null I K 880 880 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs370182220 3p14.1 3 65361273A> G null I T 880 880 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs764002832 3p14.1 3 65361271C> G null E Q 881 881 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs754126405 3p14.1 3 65361263A> C null I M 883 883 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs766569102 3p14.1 3 65361258T> C null N S 885 885 missense 0.006 benign 0.98 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs867216388 3p14.1 3 65361255C> T null G D 886 886 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs760886450 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65361250G> A null R C 888 888 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs144736804 3p14.1 3 65361249C> T null R H 888 888 missense 0.892 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs773296837 3p14.1 3 65361247T> C null R G 889 889 missense 0.549 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201117026 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375,cosmic_study:376 3p14.1 3 65361241G> A null R C 891 891 0.002196 missense 0.954 probably damaging 0.04 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1339656333 cosmic curated [Cosmic]: stomach pubmed:22484628,cosmic_study:480 3p14.1 3 65361240C> T null R H 891 891 missense 0.031 benign 0.27 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs138217245 3p14.1 3 65361234A> G null F S 893 893 missense 0.012 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs202003931 3p14.1 3 65361225C> A null R L 896 896 5.99E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs202003931 3p14.1 3 65361225C> G null R P 896 896 5.99E-4 missense 0.999 probably damaging 0.24 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs202003931 3p14.1 3 65361225C> T null R Q 896 896 5.99E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1228956693 3p14.1 3 65361226G> A null R W 896 896 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559885951 3p14.1 3 65361220C> T null D N 898 898 missense 0.478 possibly damaging 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs920649206 3p14.1 3 65361217C> T null G S 899 899 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs769401664 3p14.1 3 65361213G> A null S L 900 900 missense 0.355 benign 0.59 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115182995 3p14.1 3 65357129G> T null P H 906 906 0.009585 missense 0.149 benign 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115182995 3p14.1 3 65357129G> C null P R 906 906 0.009585 missense 0.026 benign 0.29 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs748064535 3p14.1 3 65357126C> A null S I 907 907 missense 0.541 possibly damaging 0.05 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs748064535 3p14.1 3 65357126C> T null S N 907 907 missense 0.366 benign 0.12 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs778839760 3p14.1 3 65357118G> C null R G 910 910 missense 0.003 benign 0.44 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs778839760 3p14.1 3 65357118G> T null R S 910 910 missense 0.013 benign 0.75 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs199590961 3p14.1 3 65357113G> T null H Q 911 911 missense 0.087 benign 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs368993221 3p14.1 3 65357114T> C null H R 911 911 missense 0.133 benign 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs778997395 3p14.1 3 65357115G> A null H Y 911 911 missense 0.007 benign 0.36 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1482990432 3p14.1 3 65357111C> T null G D 912 912 missense 0.098 benign 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs755039176 3p14.1 3 65357112C> G null G R 912 912 missense 0.087 benign 0.21 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs755039176 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 3p14.1 3 65357112C> T null G S 912 912 missense 0.003 benign 0.87 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs758465109 3p14.1 3 65357108G> C null P R 913 913 missense 0.176 benign 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs149895880 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65357106C> T null A T 914 914 0.001198 missense 0.001 benign 0.74 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs765830224 3p14.1 3 65357105G> A null A V 914 914 missense 0.098 benign 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs372252686 3p14.1 3 65357100C> A null G C 916 916 missense 0.811 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs766826512 3p14.1 3 65357099C> T null G D 916 916 missense 0.076 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs372252686 3p14.1 3 65357100C> T null G S 916 916 missense 0.003 benign 0.29 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1395922833 3p14.1 3 65357097G> A null P S 917 917 missense 0.006 benign 0.86 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1395922833 3p14.1 3 65357097G> T null P T 917 917 missense 0.076 benign 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1268955517 3p14.1 3 65357092T> G null Q H 918 918 missense 0.717 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs913082051 3p14.1 3 65357093T> C null Q R 918 918 missense 0.19 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1171312933 3p14.1 3 65357090C> G null G A 919 919 missense 0.001 benign 0.12 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1377566624 3p14.1 3 65357091C> G null G R 919 919 missense 0.104 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs760423671 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:23292937,cosmic_study:482 3p14.1 3 65357084G> A null P L 921 921 missense 0.08 benign 0.0 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559876911 3p14.1 3 65357079C> T null V M 923 923 missense 0.009 benign 0.33 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1369638511 3p14.1 3 65357075C> T null R K 924 924 missense 0.0 benign 0.48 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs772956114 3p14.1 3 65357072G> C null A G 925 925 missense 0.023 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs747632332 3p14.1 3 65357064C> G null D H 928 928 missense 0.007 benign 0.05 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs773725399 3p14.1 3 65357063T> A null D V 928 928 missense 0.098 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs747632332 3p14.1 3 65357064C> A null D Y 928 928 missense 0.268 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed rs768709936 3p14.1 3 65357061G> A null R C 929 929 missense 0.687 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1422011896 3p14.1 3 65357060C> A null R L 929 929 missense 0.037 benign 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed rs768709936 3p14.1 3 65357061G> T null R S 929 929 missense 0.012 benign 0.69 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs755857207 3p14.1 3 65357057C> G null R P 930 930 missense 0.007 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs779875559 3p14.1 3 65357058G> A null R W 930 930 missense 0.857 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1460433094 3p14.1 3 65357050A> T null H Q 932 932 missense 0.271 benign 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs139105394 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65357045G> A null S L 934 934 missense 0.083 benign 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1176180248 3p14.1 3 65357046A> T null S T 934 934 missense 0.007 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1319637998 3p14.1 3 65357036G> C null S C 937 937 missense 0.719 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1295654745 3p14.1 3 65357024G> A null P L 941 941 missense 0.447 possibly damaging 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs754346795 3p14.1 3 65357025G> A null P S 941 941 missense 0.015 benign 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs766879624 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65357022C> T null D N 942 942 missense 0.09 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs766879624 3p14.1 3 65357022C> A null D Y 942 942 missense 0.706 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1310424752 3p14.1 3 65357014G> T null H Q 944 944 missense 0.099 benign 0.1 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs761051639 3p14.1 3 65357013T> G null K Q 945 945 missense 0.111 benign 0.24 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl,NCI-TCGA rs752671181 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65357003G> A null P L 948 948 missense 0.001 benign 0.63 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1456135034 3p14.1 3 65357004G> T null P T 948 948 missense 0.003 benign 0.43 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1351612122 3p14.1 3 65357001G> A null H Y 949 949 missense 0.187 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs369284216 3p14.1 3 65356998C> T null G R 950 950 missense 0.022 benign 0.54 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs773955229 3p14.1 3 65356994T> C null E G 951 951 missense 0.056 benign 0.03 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs768031873 3p14.1 3 65356990C> G null K N 952 952 missense 0.215 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1251438863 3p14.1 3 65356989G> A null R W 953 953 missense 0.876 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1260486963 3p14.1 3 65356986C> T null A T 954 954 missense 0.005 benign 0.59 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1487704283 3p14.1 3 65356980C> G null A P 956 956 missense 0.164 benign 0.28 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1278651137 3p14.1 3 65356977T> C null R G 957 957 missense 0.056 benign 0.04 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1182249860 3p14.1 3 65356974C> A null D Y 958 958 missense 0.66 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1214834973 cosmic curated [Cosmic]: endometrium, [Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23917401,cosmic_study:329,cosmic_study:419,cosmic_study:552 3p14.1 3 65356970G> A null P L 959 959 missense 0.001 benign 0.24 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs769581565 3p14.1 3 65356967T> C null K R 960 960 missense 0.324 benign 0.25 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs896187135 3p14.1 3 65356964C> T null G D 961 961 missense 0.083 benign 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1335988151 3p14.1 3 65356956C> G null E Q 964 964 missense 0.06 benign 0.21 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs780961185 3p14.1 3 65356952T> C null Y C 965 965 missense 0.117 benign 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,gnomAD rs192423645 3p14.1 3 65356953A> G null Y H 965 965 2.0E-4 missense 0.0 benign 0.78 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,gnomAD rs192423645 3p14.1 3 65356953A> T null Y N 965 965 2.0E-4 missense 0.009 benign 0.23 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs866308851 3p14.1 3 65356947T> C null R G 967 967 missense 0.0 benign 0.11 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs754970655 3p14.1 3 65356936A> C null N K 970 970 missense 0.055 benign 0.32 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs779070587 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65356937T> C null N S 970 970 missense 0.005 benign 0.23 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs754398016 3p14.1 3 65356935C> T null E K 971 971 missense 0.025 benign 0.14 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1364660793 3p14.1 3 65356925G> A null T I 974 974 missense 0.858 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559876288 3p14.1 3 65356921C> G null W C 975 975 missense 0.799 possibly damaging 0.02 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,TOPMed,gnomAD rs201291352 3p14.1 3 65356918A> C null N K 976 976 2.0E-4 missense 0.011 benign 0.07 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1198401405 3p14.1 3 65356919T> C null N S 976 976 missense 0.011 benign 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs756673268 3p14.1 3 65356911A> G null S P 979 979 missense 0.0 benign 0.09 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs765843799 cosmic curated [Cosmic]: large_intestine cosmic_study:376 3p14.1 3 65356904T> C null K R 981 981 missense 0.0 benign 0.49 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs767747158 3p14.1 3 65356902G> C null P A 982 982 missense 0.0 benign 0.65 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs751127040 3p14.1 3 65356897G> C null D E 983 983 missense 0.001 benign 0.1 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1289037240 3p14.1 3 65356898T> C null D G 983 983 missense 0.001 benign 0.05 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1206444364 3p14.1 3 65356899C> T null D N 983 983 missense 0.001 benign 0.49 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1255101018 3p14.1 3 65356896T> C null S G 984 984 missense 0.0 benign 0.22 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1255101018 3p14.1 3 65356896T> G null S R 984 984 missense 0.1 benign 0.33 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs763692539 3p14.1 3 65356890C> T null A T 986 986 missense 0.0 benign 0.46 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs780292530 3p14.1 3 65356889G> A null A V 986 986 missense 0.0 benign 0.26 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1226675660 3p14.1 3 65356886C> T null C Y 987 987 missense 0.0 benign 0.13 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1303900643 3p14.1 3 65356873G> T null D E 991 991 missense 0.0 benign 0.29 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1313003987 3p14.1 3 65356865G> A null P L 994 994 missense 0.001 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs867434947 3p14.1 3 65356860C> T null G R 996 996 missense 0.0 benign 0.35 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,TOPMed,gnomAD rs371334183 3p14.1 3 65356857G> C null R G 997 997 missense 0.0 benign 0.18 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1320193593 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 3p14.1 3 65356856C> T null R Q 997 997 missense 0.015 benign 0.18 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,gnomAD rs544348166 3p14.1 3 65356854T> C null R G 998 998 2.0E-4 missense 0.025 benign 0.05 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs759437474 cosmic curated [Cosmic]: lung pubmed:22941188,cosmic_study:423 3p14.1 3 65356853C> T null R K 998 998 missense 0.0 benign 0.47 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1172035193 3p14.1 3 65356851C> A null D Y 999 999 missense 0.24 benign 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1397059295 3p14.1 3 65356847G> A null A V 1000 1000 missense 0.023 benign 0.15 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1240923945 3p14.1 3 65356838T> G null E A 1003 1003 missense 0.059 benign 0.3 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs778933016 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 3p14.1 3 65356833C> T null A T 1005 1005 missense 0.0 benign 0.44 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs768791893 3p14.1 3 65356830C> T null A T 1006 1006 missense 0.088 benign 0.62 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs760080102 3p14.1 3 65356827C> T null A T 1007 1007 missense 0.001 benign 0.58 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs780273082 3p14.1 3 65356820T> C null N S 1009 1009 missense 0.007 benign 0.11 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1035982063 3p14.1 3 65356821T> A null N Y 1009 1009 missense 0.648 possibly damaging 0.01 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs558561010 3p14.1 3 65356818C> T null G S 1010 1010 3.99E-4 missense 0.086 benign 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1285840906 3p14.1 3 65356815G> A null P S 1011 1011 missense 0.001 benign 0.92 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs199909203 3p14.1 3 65356811T> A null K M 1012 1012 missense 0.723 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs199909203 3p14.1 3 65356811T> C null K R 1012 1012 missense 0.173 benign 0.53 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1002151775 3p14.1 3 65356809T> A null R W 1013 1013 missense 0.494 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1333613059 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65356806G> A null R W 1014 1014 missense 0.409 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs757523874 3p14.1 3 65356800G> C null P A 1016 1016 missense 0.006 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs757523874 3p14.1 3 65356800G> A null P S 1016 1016 missense 0.178 benign 0.15 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs905534482 3p14.1 3 65356796T> G null E A 1017 1017 missense 0.015 benign 0.03 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs905534482 3p14.1 3 65356796T> C null E G 1017 1017 missense 0.173 benign 0.03 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1377576571 3p14.1 3 65356797C> G null E Q 1017 1017 missense 0.311 benign 0.03 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs146045041 3p14.1 3 65356791G> C null R G 1019 1019 missense 0.007 benign 0.23 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1429565573 3p14.1 3 65356790C> T null R Q 1019 1019 missense 0.23 benign 0.12 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs146045041 3p14.1 3 65356791G> A null R W 1019 1019 missense 0.007 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1019685851 3p14.1 3 65356785C> G null E Q 1021 1021 missense 0.215 benign 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs763596169 3p14.1 3 65356781C> T null G D 1022 1022 missense 0.814 possibly damaging 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148072697 3p14.1 3 65356778G> A null T I 1023 1023 0.00599 missense 0.003 benign 0.37 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148072697 3p14.1 3 65356778G> C null T S 1023 1023 0.00599 missense 0.005 benign 0.63 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs759490528 3p14.1 3 65356776G> A null R C 1024 1024 missense 0.007 benign 0.0 deleterious 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1185164227 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 3p14.1 3 65356775C> T null R H 1024 1024 missense 0.66 possibly damaging 0.01 deleterious 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,NCI-TCGA,TOPMed,gnomAD rs142375705 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 3p14.1 3 65356770C> T null A T 1026 1026 missense 0.994 probably damaging 0.28 tolerated 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs773042890 3p14.1 3 65356767C> G null D H 1027 1027 missense 0.773 possibly damaging 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,TOPMed,gnomAD rs773042890 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65356767C> T null D N 1027 1027 missense 0.181 benign 0.33 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs773042890 3p14.1 3 65356767C> A null D Y 1027 1027 missense 0.789 possibly damaging 0.05 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs749494789 3p14.1 3 65356764T> G null N H 1028 1028 missense 0.667 possibly damaging 0.08 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs536453395 3p14.1 3 65356761T> C null T A 1029 1029 2.0E-4 missense 0.555 possibly damaging 0.06 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,TOPMed,gnomAD rs536453395 3p14.1 3 65356761T> A null T S 1029 1029 2.0E-4 missense 0.555 possibly damaging 0.12 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs142406539 3p14.1 3 65356757A> G null L S 1030 1030 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140619230 3p14.1 3 65356758A> C null L V 1030 1030 7.99E-4 missense 0.986 probably damaging 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1294175747 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65356748C> T null R K 1033 1033 missense 0.359 benign 0.08 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs747390339 3p14.1 3 65356749T> A null R W 1033 1033 missense 0.947 probably damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1409473714 3p14.1 3 65356745T> G null E A 1034 1034 missense 0.059 benign 0.07 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,gnomAD rs537179465 3p14.1 3 65356742T> C null K R 1035 1035 2.0E-4 missense 0.0 benign 0.72 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs750777961 3p14.1 3 65356738G> T null H Q 1036 1036 missense 0.001 benign 0.11 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1229631819 3p14.1 3 65356740G> A null H Y 1036 1036 missense 0.0 benign 0.36 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs754416898 3p14.1 3 65356735C> G null E D 1037 1037 missense 0.003 benign 0.25 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs764756034 3p14.1 3 65356737C> T null E K 1037 1037 missense 0.062 benign 0.44 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs753823882 3p14.1 3 65356734T> C null K E 1038 1038 missense 0.015 benign 0.1 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1246853964 3p14.1 3 65356733T> C null K R 1038 1038 missense 0.0 benign 0.87 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs766282453 3p14.1 3 65356731T> C null R G 1039 1039 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs760652364 3p14.1 3 65356730C> A null R I 1039 1039 missense 0.031 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs760652364 3p14.1 3 65356730C> T null R K 1039 1039 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1189150710 3p14.1 3 65356729T> A null R S 1039 1039 missense 0.015 benign 0.11 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs772917639 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 3p14.1 3 65356728G> A null R * 1040 1040 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs767401164 3p14.1 3 65356727C> A null R L 1040 1040 missense 0.202 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs767401164 3p14.1 3 65356727C> T null R Q 1040 1040 missense 0.01 benign 0.02 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs763294631 3p14.1 3 65356721A> G null V A 1042 1042 missense 0.0 benign 0.85 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,gnomAD rs571243906 3p14.1 3 65356718G> A null S F 1043 1043 2.0E-4 missense 0.025 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1056128601 3p14.1 3 65356716G> A null P S 1044 1044 missense 0.344 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs770002282 3p14.1 3 65356701C> A null E * 1049 1049 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs770002282 3p14.1 3 65356701C> G null E Q 1049 1049 missense 0.52 possibly damaging 0.05 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1371460714 3p14.1 3 65356697C> T null R Q 1050 1050 missense 0.41 benign 0.08 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs745880197 3p14.1 3 65356698G> A null R W 1050 1050 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1443454895 3p14.1 3 65356695A> T null S T 1051 1051 missense 0.479 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1330856053 3p14.1 3 65356692G> A null P S 1052 1052 missense 0.662 possibly damaging 0.14 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs776758597 3p14.1 3 65356688G> T null T N 1053 1053 missense 0.037 benign 0.32 tolerated 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559875267 cosmic curated [Cosmic]: pancreas cosmic_study:382 3p14.1 3 65356685C> A null R L 1054 1054 missense 0.066 benign 0.13 tolerated - low confidence 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1463495517 3p14.1 3 65356683T> C null R G 1055 1055 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs747528094 3p14.1 3 65356670G> A null S F 1059 1059 missense 0.994 probably damaging 0.28 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs79971348 3p14.1 3 65356671A> G null S P 1059 1059 missense 0.991 probably damaging 0.12 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs778133321 3p14.1 3 65356668G> A null P S 1060 1060 missense 0.121 benign 0.12 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs778133321 3p14.1 3 65356668G> T null P T 1060 1060 missense 0.592 possibly damaging 0.12 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs747802043 3p14.1 3 65356661C> A null R L 1062 1062 missense 0.041 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1250938819 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65356659G> A null R W 1063 1063 missense 0.938 probably damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1213955796 3p14.1 3 65356656T> A null R * 1064 1064 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs778476779 3p14.1 3 65356652C> A null R L 1065 1065 missense 0.093 benign 0.11 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs778476779 3p14.1 3 65356652C> G null R P 1065 1065 missense 0.619 possibly damaging 0.15 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1195208712 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 3p14.1 3 65356653G> A null R W 1065 1065 missense 0.859 possibly damaging 0.01 deleterious - low confidence 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1267352369 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:417 3p14.1 3 65356649G> A null S F 1066 1066 missense 0.878 possibly damaging 0.01 deleterious - low confidence 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs753351918 3p14.1 3 65356638G> A null L F 1070 1070 missense 0.003 benign 0.72 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs756058727 3p14.1 3 65356627C> G null Q H 1073 1073 missense 0.001 benign 0.13 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs750330382 3p14.1 3 65356622C> T null R K 1075 1075 missense 0.003 benign 0.09 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1443484507 3p14.1 3 65356621C> A null R S 1075 1075 missense 0.109 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs750330382 3p14.1 3 65356622C> G null R T 1075 1075 missense 0.196 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs761636491 3p14.1 3 65356619G> A null S F 1076 1076 missense 0.003 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs761636491 3p14.1 3 65356619G> T null S Y 1076 1076 missense 0.087 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,TOPMed rs199689289 3p14.1 3 65356616G> A null P L 1077 1077 2.0E-4 missense 0.168 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs975625365 3p14.1 3 65356610C> T null R H 1079 1079 missense 0.407 benign 0.04 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs368712377 3p14.1 3 65356607C> T null R K 1080 1080 missense 0.0 benign 0.86 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs772437991 3p14.1 3 65356604C> T null R K 1081 1081 missense 0.006 benign 0.04 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs779242047 3p14.1 3 65356602C> T null G R 1082 1082 missense 0.118 benign 0.33 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs779242047 3p14.1 3 65356602C> A null G W 1082 1082 missense 0.518 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs963332161 3p14.1 3 65356598C> T null G D 1083 1083 missense 0.015 benign 0.22 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs963332161 3p14.1 3 65356598C> A null G V 1083 1083 missense 0.015 benign 0.5 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs956729171 3p14.1 3 65356595G> A null S L 1084 1084 missense 0.358 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1243940745 3p14.1 3 65356593G> A null P S 1085 1085 missense 0.701 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs748944757 3p14.1 3 65356586C> A null R L 1087 1087 missense 0.577 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs748944757 3p14.1 3 65356586C> G null R P 1087 1087 missense 0.813 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs755614336 3p14.1 3 65356582C> G null R S 1088 1088 missense 0.349 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs766083821 3p14.1 3 65356581C> T null A T 1089 1089 missense 0.423 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1295553016 3p14.1 3 65356578T> G null K Q 1090 1090 missense 0.814 possibly damaging 0.07 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs762533994 3p14.1 3 65356577T> C null K R 1090 1090 missense 0.655 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1428230887 3p14.1 3 65356574G> A null S F 1091 1091 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1364635118 3p14.1 3 65356572T> C null T A 1092 1092 missense 0.028 benign 0.15 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1000Genomes,ExAC,gnomAD rs567163793 3p14.1 3 65356571G> A null T I 1092 1092 2.0E-4 missense 0.354 benign 0.02 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs370430462 3p14.1 3 65356569C> G null D H 1093 1093 missense 0.898 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370430462 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65356569C> A null D Y 1093 1093 missense 0.929 probably damaging 0.04 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA,gnomAD rs763951532 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65356559C> T null R H 1096 1096 missense 0.385 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs763951532 3p14.1 3 65356559C> A null R L 1096 1096 missense 0.001 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs759698655 3p14.1 3 65356557C> G null A P 1097 1097 missense 0.305 benign 0.27 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1435154802 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 3p14.1 3 65356554G> A null R C 1098 1098 missense 0.319 benign 0.0 deleterious - low confidence 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1435154802 3p14.1 3 65356554G> C null R G 1098 1098 missense 0.028 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1389357632 3p14.1 3 65356553C> A null R L 1098 1098 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1389357632 3p14.1 3 65356553C> G null R P 1098 1098 missense 0.079 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1430251228 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65356550G> A null S F 1099 1099 missense 0.653 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP rs376310060 3p14.1 3 65356548G> A null P S 1100 1100 missense 0.275 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1165097024 3p14.1 3 65356543C> G null E D 1101 1101 missense 0.011 benign 0.33 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,NCI-TCGA rs760749180 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: liver cosmic_study:323 3p14.1 3 65356545C> T null E K 1101 1101 missense 0.288 benign 0.01 deleterious - low confidence 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1471775161 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 3p14.1 3 65356541C> T null R H 1102 1102 missense 0.468 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1471775161 3p14.1 3 65356541C> A null R L 1102 1102 missense 0.186 benign 0.04 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1185879004 3p14.1 3 65356539T> A null R W 1103 1103 missense 0.955 probably damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs773263998 3p14.1 3 65356531C> A null E D 1105 1105 missense 0.069 benign 0.73 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559874381 3p14.1 3 65356532T> C null E G 1105 1105 missense 0.037 benign 0.04 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs772629631 3p14.1 3 65356529C> T null R Q 1106 1106 missense 0.072 benign 0.07 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1213252244 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 3p14.1 3 65356530G> A null R W 1106 1106 missense 0.971 probably damaging 0.04 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1309783253 3p14.1 3 65356515T> C null R G 1111 1111 missense 0.015 benign 0.11 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs979804756 3p14.1 3 65356514C> T null R K 1111 1111 missense 0.415 benign 0.41 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs960234854 3p14.1 3 65356511T> C null N S 1112 1112 missense 0.0 benign 0.62 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs774743568 3p14.1 3 65356509T> C null R G 1113 1113 missense 0.0 benign 0.02 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs748927229 3p14.1 3 65356508C> A null R I 1113 1113 missense 0.133 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs748927229 3p14.1 3 65356508C> T null R K 1113 1113 missense 0.0 benign 0.41 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1335295337 3p14.1 3 65356503C> A null D Y 1115 1115 missense 0.568 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1294787264 3p14.1 3 65356493C> G null S T 1118 1118 missense 0.022 benign 0.46 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs769205130 3p14.1 3 65356488G> C null R G 1120 1120 missense 0.005 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs745429984 3p14.1 3 65356485C> G null E Q 1121 1121 missense 0.003 benign 0.13 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1463329962 3p14.1 3 65356482T> C null R G 1122 1122 missense 0.223 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs757626815 3p14.1 3 65356481C> T null R K 1122 1122 missense 0.006 benign 0.2 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs970273261 3p14.1 3 65356480C> G null R S 1122 1122 missense 0.168 benign 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs757626815 3p14.1 3 65356481C> G null R T 1122 1122 missense 0.286 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs780845400 3p14.1 3 65356479C> T null E K 1123 1123 missense 0.075 benign 0.16 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1474945715 3p14.1 3 65356472G> C null A G 1125 1125 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1474945715 3p14.1 3 65356472G> A null A V 1125 1125 missense 0.0 benign 0.2 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1349504229 3p14.1 3 65356469T> G null N T 1126 1126 missense 0.0 benign 0.39 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs777458552 3p14.1 3 65356466A> G null L P 1127 1127 missense 0.0 benign 0.15 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs746922593 3p14.1 3 65356467G> C null L V 1127 1127 missense 0.042 benign 0.43 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1034772164 3p14.1 3 65356461G> A null Q * 1129 1129 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1034772164 3p14.1 3 65356461G> C null Q E 1129 1129 missense 0.007 benign 0.3 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs201195412 3p14.1 3 65356460T> C null Q R 1129 1129 missense 0.0 benign 0.38 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP rs139829422 3p14.1 3 65356455C> G null A P 1131 1131 missense 0.0 benign 0.16 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs886154222 3p14.1 3 65356454G> A null A V 1131 1131 missense 0.0 benign 0.09 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs144133607 3p14.1 3 65356451C> T null G D 1132 1132 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs769748546 3p14.1 3 65356452C> G null G R 1132 1132 missense 0.269 benign 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs769748546 3p14.1 3 65356452C> T null G S 1132 1132 missense 0.005 benign 0.57 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,ExAC,TOPMed,gnomAD rs144133607 3p14.1 3 65356451C> A null G V 1132 1132 missense 0.079 benign 0.04 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs750537588 3p14.1 3 65356443A> C null S A 1135 1135 missense 0.022 benign 0.46 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1334875069 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p14.1 3 65356437G> A null H Y 1137 1137 missense 0.083 benign 0.03 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1373754233 cosmic curated [Cosmic]: skin pubmed:21984974,cosmic_study:357 3p14.1 3 65356433G> A null P L 1138 1138 missense 0.001 benign 0.9 tolerated - low confidence 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs767559877 3p14.1 3 65356434G> A null P S 1138 1138 missense 0.085 benign 0.68 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs890970311 3p14.1 3 65356430G> A null P L 1139 1139 missense 0.007 benign 0.06 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1008353487 3p14.1 3 65356431G> A null P S 1139 1139 missense 0.178 benign 0.04 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1167192374 3p14.1 3 65356426C> A null E D 1140 1140 missense 0.987 probably damaging 0.02 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ESP,gnomAD rs373197382 3p14.1 3 65356423C> G null Q H 1141 1141 missense 0.001 benign 0.11 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1173505570 3p14.1 3 65356424T> C null Q R 1141 1141 missense 0.056 benign 0.64 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1049997723 3p14.1 3 65356421C> T null R K 1142 1142 missense 0.026 benign 0.36 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1179896488 cosmic curated [Cosmic]: kidney cosmic_study:416 3p14.1 3 65356415C> T null R Q 1144 1144 missense 0.62 possibly damaging 0.0 deleterious - low confidence 1 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1371744960 3p14.1 3 65356413G> C null P A 1145 1145 missense 0.085 benign 0.54 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs1559873804 3p14.1 3 65356409du p null Y * 1146 1146 stop gained 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1421289463 3p14.1 3 65356410A> C null Y D 1146 1146 missense 0.997 probably damaging 0.03 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1193333545 3p14.1 3 65356401A> C null C G 1149 1149 missense 0.194 benign 0.04 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed,gnomAD rs1193333545 3p14.1 3 65356401A> G null C R 1149 1149 missense 0.62 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 gnomAD rs1467532778 3p14.1 3 65356400C> T null C Y 1149 1149 missense 0.834 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs764373595 3p14.1 3 65356398T> C null S G 1150 1150 missense 0.415 benign 0.02 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs763322801 3p14.1 3 65356394G> T null T N 1151 1151 missense 0.602 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,gnomAD rs775707857 3p14.1 3 65356390G> T null D E 1152 1152 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Ensembl rs752024318 3p14.1 3 65356392C> A null D Y 1152 1152 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs745485618 3p14.1 3 65356388A> T null L H 1153 1153 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 ExAC,TOPMed,gnomAD rs745485618 3p14.1 3 65356388A> C null L R 1153 1153 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1298301907 3p14.1 3 65356385C> T null S N 1154 1154 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A087WT53 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 TOPMed rs1345412676 3p14.1 3 65356380A> C null * G 1156 1156 stop lost 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs201453622 19p13.3 19 4475351C> T null T I 2 2 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1440239068 19p13.3 19 4475462A> G null K R 8 8 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs779604052 19p13.3 19 4475470T> A null F I 11 11 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1212703527 19p13.3 19 4475471T> C null F S 11 11 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1349644954 19p13.3 19 4475474C> T null P L 12 12 missense 0.304 benign 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC rs751098546 19p13.3 19 4475473C> T null P S 12 12 missense 0.962 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1270685195 19p13.3 19 4475478C> A null Y * 13 13 stop gained 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs754523230 19p13.3 19 4475479G> A null D N 14 14 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs780657964 19p13.3 19 4475482A> C null K Q 15 15 missense 0.995 probably damaging 0.05 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,gnomAD rs376712241 19p13.3 19 4475483A> G null K R 15 15 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1426490022 19p13.3 19 4475486G> T null C F 16 16 missense 0.574 possibly damaging 0.45 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1280684102 19p13.3 19 4475485T> C null C R 16 16 missense 0.93 probably damaging 0.23 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs770112385 19p13.3 19 4475496G> T null K N 19 19 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1189424583 19p13.3 19 4475495A> C null K T 19 19 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs749777732 19p13.3 19 4475500G> A null G R 21 21 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs367714402 19p13.3 19 4475504A> G null K R 22 22 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1289960501 19p13.3 19 4475512A> G null K E 25 25 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1289960501 19p13.3 19 4475512A> C null K Q 25 25 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs376780327 19p13.3 19 4475522G> C null G A 28 28 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs775538219 19p13.3 19 4475528A> T null N I 30 30 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs775538219 19p13.3 19 4475528A> G null N S 30 30 missense 0.99 probably damaging 0.06 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,gnomAD rs541672770 19p13.3 19 4475552A> G null N S 38 38 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs762980822 19p13.3 19 4475557C> T null P S 40 40 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1486415809 19p13.3 19 4475567G> A null S N 43 43 missense 0.981 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185764004 19p13.3 19 4475582C> T null P L 48 48 3.99E-4 missense 0.052 benign 0.15 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185764004 19p13.3 19 4475582C> A null P Q 48 48 3.99E-4 missense 0.983 probably damaging 0.12 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs185764004 19p13.3 19 4475582C> G null P R 48 48 3.99E-4 missense 0.974 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1251022640 19p13.3 19 4488689C> T null S F 53 53 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs968340607 19p13.3 19 4488691G> A null D N 54 54 missense 0.943 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1276207519 19p13.3 19 4488694A> G null S G 55 55 missense 0.981 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1231601299 19p13.3 19 4488695G> A null S N 55 55 missense 0.981 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1192314177 19p13.3 19 4488697G> A null E K 56 56 missense 0.991 probably damaging 0.05 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs889772861 19p13.3 19 4488701C> T null A V 57 57 missense 0.425 benign 0.54 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1333210755 19p13.3 19 4488707A> G null E G 59 59 missense 0.048 benign 0.11 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1410939109 19p13.3 19 4488706G> A null E K 59 59 missense 0.804 possibly damaging 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1169307799 19p13.3 19 4488709G> A null A T 60 60 missense 0.948 probably damaging 0.26 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs780281020 19p13.3 19 4488715C> T null P S 62 62 missense 0.553 possibly damaging 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs768872801 19p13.3 19 4488718G> A null A T 63 63 missense 0.734 possibly damaging 0.12 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147061912 19p13.3 19 4488721G> A null D N 64 64 0.007388 missense 0.019 benign 0.11 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs962845033 19p13.3 19 4488724G> C null G R 65 65 missense 0.265 benign 0.06 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs962845033 19p13.3 19 4488724G> A null G S 65 65 missense 0.752 possibly damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs994373802 19p13.3 19 4488725G> T null G V 65 65 missense 0.894 possibly damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs918976256 19p13.3 19 4488733G> T null A S 68 68 missense 0.93 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs918976256 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4488733G> A null A T 68 68 missense 0.884 possibly damaging 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs375365209 19p13.3 19 4488738C> G null D E 69 69 missense 0.984 probably damaging 0.62 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1215828097 19p13.3 19 4488736G> A null D N 69 69 missense 0.981 probably damaging 0.06 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs770607212 19p13.3 19 4488739G> A null E K 70 70 missense 0.44 benign 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs866810200 19p13.3 19 4488744C> A null D E 71 71 missense 0.646 possibly damaging 0.25 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs927243971 19p13.3 19 4488742G> T null D Y 71 71 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1475927267 19p13.3 19 4488747T> G null D E 72 72 missense 0.058 benign 0.79 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs943059229 19p13.3 19 4488745G> C null D H 72 72 missense 0.974 probably damaging 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs943059229 19p13.3 19 4488745G> A null D N 72 72 missense 0.734 possibly damaging 0.1 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1186349063 19p13.3 19 4488748G> C null E Q 73 73 missense 0.899 possibly damaging 0.1 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1417841194 19p13.3 19 4488752A> C null D A 74 74 missense 0.135 benign 0.07 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1475961079 19p13.3 19 4488753C> G null D E 74 74 missense 0.135 benign 0.21 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs759386156 19p13.3 19 4488755G> A null R Q 75 75 missense 0.129 benign 0.11 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs774255953 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4488754C> T null R W 75 75 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148098363 19p13.3 19 4488760G> T null V F 77 77 0.002796 missense 0.952 probably damaging 0.05 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148098363 19p13.3 19 4488760G> A null V I 77 77 0.002796 missense 0.259 benign 0.21 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1416420889 19p13.3 19 4488765G> A null M I 78 78 missense 0.28 benign 0.09 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1345768617 19p13.3 19 4488767C> T null A V 79 79 missense 0.425 benign 0.05 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs760126562 19p13.3 19 4488769G> A null V I 80 80 missense 0.977 probably damaging 0.05 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs998272539 19p13.3 19 4488776C> T null A V 82 82 missense 0.853 possibly damaging 0.06 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1294197515 19p13.3 19 4488778G> A null V I 83 83 missense 0.724 possibly damaging 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs756983810 19p13.3 19 4488784G> T null A S 85 85 missense 0.932 probably damaging 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs756983810 19p13.3 19 4488784G> A null A T 85 85 missense 0.496 possibly damaging 0.18 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1006872394 19p13.3 19 4488793G> A null A T 88 88 missense 0.086 benign 0.17 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs765507022 19p13.3 19 4488796A> C null S R 89 89 missense 0.983 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,gnomAD rs375310458 19p13.3 19 4488801C> A null D E 90 90 missense 0.58 possibly damaging 0.64 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,gnomAD rs370846153 19p13.3 19 4488799G> A null D N 90 90 missense 0.973 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1266619493 19p13.3 19 4488803G> A null R K 91 91 missense 0.192 benign 0.56 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1188201547 19p13.3 19 4488806T> A null M K 92 92 missense 0.943 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1063176 19p13.3 19 4488808G> T null E * 93 93 stop gained 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1063176 19p13.3 19 4488808G> A null E K 93 93 missense 0.923 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs367904154 19p13.3 19 4488814G> A null D N 95 95 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1316149305 19p13.3 19 4488823T> G null S A 98 98 missense 0.955 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1360672912 19p13.3 19 4488828C> G null D E 99 99 missense 0.994 probably damaging 0.16 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1415240177 19p13.3 19 4488832A> G null S G 101 101 missense 0.123 benign 0.71 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1033588605 19p13.3 19 4488833G> A null S N 101 101 missense 0.897 possibly damaging 0.12 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs755075586 19p13.3 19 4488835A> G null S G 102 102 missense 0.981 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs866600441 19p13.3 19 4488838G> A null D N 103 103 missense 0.317 benign 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,gnomAD rs563651004 19p13.3 19 4488841A> G null N D 104 104 2.0E-4 missense 0.798 possibly damaging 0.14 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1223657849 19p13.3 19 4488860A> T null K M 110 110 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1223657849 19p13.3 19 4488860A> G null K R 110 110 missense 0.99 probably damaging 0.05 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371752768 19p13.3 19 4488863C> T null T M 111 111 2.0E-4 missense 0.934 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1212092323 19p13.3 19 4488866C> T null P L 112 112 missense 0.491 possibly damaging 0.82 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs929021681 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4488869C> T null A V 113 113 missense 0.271 benign 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1457525818 19p13.3 19 4488872T> C null L P 114 114 missense 0.984 probably damaging 0.09 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373051908 19p13.3 19 4491569T> G null S A 117 117 2.0E-4 missense 0.135 benign 0.33 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs375013451 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4491570C> T null S L 117 117 missense 0.18 benign 0.31 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373051908 19p13.3 19 4491569T> A null S T 117 117 2.0E-4 missense 0.85 possibly damaging 0.22 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs781039084 19p13.3 19 4491576C> T null S L 119 119 missense 0.804 possibly damaging 0.09 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs778001615 19p13.3 19 4491575T> C null S P 119 119 missense 0.101 benign 0.2 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs781039084 19p13.3 19 4491576C> G null S W 119 119 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1044962876 19p13.3 19 4491593G> T null A S 125 125 missense 0.938 probably damaging 0.85 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369190777 19p13.3 19 4491594C> T null A V 125 125 missense 0.958 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1479548238 19p13.3 19 4491596T> C null S P 126 126 missense 0.101 benign 0.07 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs768648130 19p13.3 19 4491600G> A null S N 127 127 missense 0.981 probably damaging 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC rs769213342 19p13.3 19 4491604C> G null D E 128 128 missense 0.994 probably damaging 0.12 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs761332806 19p13.3 19 4491602G> A null D N 128 128 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199677808 19p13.3 19 4491606T> C null L P 129 129 2.0E-4 missense 0.979 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1193691533 19p13.3 19 4491608G> C null D H 130 130 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1385956769 19p13.3 19 4491612A> G null Q R 131 131 missense 0.084 benign 0.07 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs762741552 19p13.3 19 4491615C> A null A D 132 132 missense 0.973 probably damaging 0.12 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs376151917 19p13.3 19 4491620G> T null V L 134 134 missense 0.524 possibly damaging 0.34 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs376151917 19p13.3 19 4491620G> A null V M 134 134 missense 0.297 benign 0.14 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1019404524 19p13.3 19 4491632G> A null E K 138 138 missense 0.927 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs756177228 19p13.3 19 4491640G> T null E D 140 140 missense 0.99 probably damaging 0.1 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1319344221 19p13.3 19 4491638G> C null E Q 140 140 missense 0.993 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs76043051 19p13.3 19 4491645C> T null S L 142 142 0.004792 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs757533267 19p13.3 19 4491654C> T null S L 145 145 missense 0.93 probably damaging 0.09 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs754785227 19p13.3 19 4491663C> T null S L 148 148 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1178512806 19p13.3 19 4491665G> A null E K 149 149 missense 0.721 possibly damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs748070612 19p13.3 19 4491675G> T null S I 152 152 missense 0.995 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs769323197 19p13.3 19 4491676C> G null S R 152 152 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs772652581 19p13.3 19 4491677G> A null D N 153 153 missense 0.996 probably damaging 0.07 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1478806248 19p13.3 19 4491767T> C null F L 156 156 missense 0.981 probably damaging 0.06 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1418227543 19p13.3 19 4491774C> G null P R 158 158 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1363766810 19p13.3 19 4491773C> T null P S 158 158 missense 0.997 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs367750750 19p13.3 19 4491776G> A null E K 159 159 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs745554286 19p13.3 19 4491779A> G null K E 160 160 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1300777871 19p13.3 19 4491786C> T null A V 162 162 missense 0.003 benign 0.18 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs371700539 19p13.3 19 4491789C> T null A V 163 163 missense 0.0 benign 1.0 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs775777503 19p13.3 19 4491791G> T null V F 164 164 missense 0.281 benign 0.06 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs543970158 19p13.3 19 4491794C> G null R G 165 165 2.0E-4 missense 0.656 possibly damaging 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs374961834 19p13.3 19 4491795G> A null R Q 165 165 7.99E-4 missense 0.714 possibly damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs543970158 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4491794C> T null R W 165 165 2.0E-4 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs568456350 19p13.3 19 4491798C> T null A V 166 166 missense 0.342 benign 0.2 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201430193 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4491800C> T null P S 167 167 missense 0.996 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs752364639 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4491804G> A null R Q 168 168 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs372036338 19p13.3 19 4491803C> T null R W 168 168 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs777803071 19p13.3 19 4491808G> C null R S 169 169 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs753857401 19p13.3 19 4491809G> T null G C 170 170 missense 0.759 possibly damaging 0.11 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs778613432 19p13.3 19 4491813C> G null P R 171 171 missense 0.648 possibly damaging 0.07 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,gnomAD rs375153544 19p13.3 19 4491812C> T null P S 171 171 missense 0.165 benign 0.1 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1244502072 19p13.3 19 4491816T> C null L P 172 172 missense 0.001 benign 0.25 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs745503167 19p13.3 19 4491818G> C null G R 173 173 missense 0.628 possibly damaging 0.09 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369359811 19p13.3 19 4491824C> G null R G 175 175 missense 0.988 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371705151 19p13.3 19 4491825G> T null R L 175 175 5.99E-4 missense 0.988 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs371705151 19p13.3 19 4491825G> A null R Q 175 175 5.99E-4 missense 0.979 probably damaging 0.05 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369359811 19p13.3 19 4491824C> T null R W 175 175 missense 0.994 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs769090414 19p13.3 19 4491827A> G null K E 176 176 missense 0.201 benign 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs896964573 19p13.3 19 4491828A> G null K R 176 176 missense 0.007 benign 0.18 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs777086544 19p13.3 19 4491830A> G null K E 177 177 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1442934895 19p13.3 19 4491833A> G null K E 178 178 missense 0.013 benign 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1304140687 19p13.3 19 4491835G> T null K N 178 178 missense 0.453 possibly damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC rs770216658 19p13.3 19 4493703A> T null K * 179 179 stop gained 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs762888839 19p13.3 19 4493707C> G null A G 180 180 missense 0.131 benign 0.27 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs762888839 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4493707C> T null A V 180 180 missense 0.0 benign 0.82 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs774404380 19p13.3 19 4493710C> T null P L 181 181 missense 0.06 benign 0.13 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs774404380 19p13.3 19 4493710C> A null P Q 181 181 missense 0.112 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1416893560 19p13.3 19 4493709C> T null P S 181 181 missense 0.04 benign 0.37 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1416893560 19p13.3 19 4493709C> A null P T 181 181 missense 0.04 benign 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs978260856 19p13.3 19 4493713C> A null S * 182 182 stop gained 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs978260856 19p13.3 19 4493713C> T null S L 182 182 missense 0.06 benign 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs776635972 19p13.3 19 4493716C> A null A D 183 183 missense 0.624 possibly damaging 0.1 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1317862314 19p13.3 19 4493715G> T null A S 183 183 missense 0.271 benign 0.32 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1284349896 19p13.3 19 4493718T> C null S P 184 184 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1486424884 19p13.3 19 4493719C> A null S Y 184 184 missense 0.996 probably damaging 0.09 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1471556085 19p13.3 19 4493722A> G null D G 185 185 missense 0.87 possibly damaging 0.05 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1236321945 19p13.3 19 4493721G> A null D N 185 185 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1236321945 19p13.3 19 4493721G> T null D Y 185 185 missense 0.264 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs765208799 19p13.3 19 4493727G> C null D H 187 187 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs765208799 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4493727G> A null D N 187 187 missense 0.922 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1156570233 19p13.3 19 4493731C> G null S C 188 188 missense 0.007 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs998161634 19p13.3 19 4493735G> C null K N 189 189 missense 0.529 possibly damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1313783787 19p13.3 19 4493737C> A null A D 190 190 missense 0.21 benign 0.17 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs549209819 19p13.3 19 4493736G> A null A T 190 190 2.0E-4 missense 0.206 benign 0.13 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1315362591 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4493739G> A null D N 191 191 missense 0.221 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs374944014 19p13.3 19 4493748G> A null G R 194 194 missense 0.005 benign 0.12 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs867391057 19p13.3 19 4493751G> A null A T 195 195 missense 0.088 benign 0.12 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1281753991 19p13.3 19 4493758C> T null P L 197 197 missense 0.003 benign 0.09 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1374620503 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4493764C> T null P L 199 199 missense 0.062 benign 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1284238726 19p13.3 19 4493772A> G null M V 202 202 missense 0.0 benign 0.53 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1423542864 19p13.3 19 4493776C> A null A E 203 203 missense 0.067 benign 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1423542864 19p13.3 19 4493776C> T null A V 203 203 missense 0.0 benign 0.07 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs765959186 19p13.3 19 4493779G> A null R Q 204 204 missense 0.043 benign 0.13 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1211139397 19p13.3 19 4493778C> T null R W 204 204 missense 0.645 possibly damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1232986233 19p13.3 19 4493782C> T null S L 205 205 missense 0.01 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1030097444 19p13.3 19 4493781T> C null S P 205 205 missense 0.302 benign 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs369862181 19p13.3 19 4493784G> T null A S 206 206 missense 0.027 benign 0.62 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1176719647 19p13.3 19 4493785C> T null A V 206 206 missense 0.08 benign 0.11 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1454603834 19p13.3 19 4493790T> G null S A 208 208 missense 0.013 benign 0.17 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1454603834 19p13.3 19 4493790T> C null S P 208 208 missense 0.549 possibly damaging 0.11 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1412999722 19p13.3 19 4493799T> C null S P 211 211 missense 0.221 benign 0.05 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1009476743 19p13.3 19 4493803C> G null S C 212 212 missense 0.627 possibly damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs749840571 19p13.3 19 4493811T> G null S A 215 215 missense 0.04 benign 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs770893579 19p13.3 19 4493812C> G null S C 215 215 missense 0.54 possibly damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs770893579 19p13.3 19 4493812C> T null S F 215 215 missense 0.003 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs770893579 19p13.3 19 4493812C> A null S Y 215 215 missense 0.127 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs752382584 19p13.3 19 4493817G> C null D H 217 217 missense 0.524 possibly damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs752382584 19p13.3 19 4493817G> A null D N 217 217 missense 0.155 benign 0.15 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs752382584 19p13.3 19 4493817G> T null D Y 217 217 missense 0.031 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1251382765 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.3 19 4493823G> A null D N 219 219 missense 0.125 benign 0.05 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1456979518 19p13.3 19 4493827T> G null V G 220 220 missense 0.302 benign 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1273031553 19p13.3 19 4493826G> A null V M 220 220 missense 0.023 benign 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs562193322 19p13.3 19 4493832G> A null V M 222 222 missense 0.474 possibly damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1267033900 19p13.3 19 4493837G> T null K N 223 223 missense 0.744 possibly damaging 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1202127299 19p13.3 19 4493842C> T null P L 225 225 missense 0.844 possibly damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1254861569 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19p13.3 19 4493845C> T null P L 226 226 missense 0.001 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1468730045 19p13.3 19 4493848G> C null R T 227 227 missense 0.395 benign 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs772355957 19p13.3 19 4493850G> A null G S 228 228 missense 0.389 benign 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1375747133 19p13.3 19 4493851G> T null G V 228 228 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs775867906 19p13.3 19 4493856A> G null K E 230 230 missense 0.482 possibly damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1169883219 19p13.3 19 4493859C> T null P S 231 231 missense 0.395 benign 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed rs150536528 19p13.3 19 4493982C> T null A V 232 232 missense 0.011 benign 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs769456613 19p13.3 19 4493985A> G null E G 233 233 missense 0.986 probably damaging 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1400638309 19p13.3 19 4493984G> C null E Q 233 233 missense 0.986 probably damaging 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1294518222 19p13.3 19 4493990C> T null P S 235 235 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs200731789 19p13.3 19 4493993C> T null L F 236 236 missense 0.003 benign 0.48 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1263680535 19p13.3 19 4493997C> T null P L 237 237 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs2288931 19p13.3 19 4493996C> T null P S 237 237 0.001398 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1205453437 19p13.3 19 4494000A> G null K R 238 238 missense 0.981 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1285082256 19p13.3 19 4494003C> T null P L 239 239 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs1040282892 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.3 19 4494006G> A null R Q 240 240 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1424541687 19p13.3 19 4494012G> T null R L 242 242 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1424541687 19p13.3 19 4494012G> A null R Q 242 242 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1259692761 19p13.3 19 4494011C> T null R W 242 242 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1187427202 19p13.3 19 4494015A> C null K T 243 243 missense 0.405 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs767050932 19p13.3 19 4494018C> T null P L 244 244 missense 0.003 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs752322865 19p13.3 19 4494023C> G null P A 246 246 missense 0.081 benign 0.09 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs760375825 19p13.3 19 4494027A> G null E G 247 247 missense 0.986 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs764361519 19p13.3 19 4494030G> A null R Q 248 248 missense 0.979 probably damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs974051714 19p13.3 19 4494033C> T null P L 249 249 missense 0.18 benign 0.34 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs934052637 19p13.3 19 4494036C> T null P L 250 250 missense 0.998 probably damaging 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs560030113 19p13.3 19 4494039C> G null S C 251 251 missense 0.678 possibly damaging 0.11 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs919961927 19p13.3 19 4494042G> A null S N 252 252 missense 0.16 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs757576775 19p13.3 19 4494045C> G null S C 253 253 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs779428581 19p13.3 19 4494051G> A null S N 255 255 missense 0.969 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1308188790 19p13.3 19 4494054A> G null D G 256 256 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,TOPMed,gnomAD rs368780587 19p13.3 19 4494057G> A null S N 257 257 missense 0.969 probably damaging 0.07 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs541194421 19p13.3 19 4494170A> T null S C 259 259 3.99E-4 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs541194421 19p13.3 19 4494170A> G null S G 259 259 3.99E-4 missense 0.971 probably damaging 0.05 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1312905260 19p13.3 19 4494171G> C null S T 259 259 missense 0.981 probably damaging 0.19 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1219377913 19p13.3 19 4494175C> G null D E 260 260 missense 0.006 benign 0.26 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs745799781 19p13.3 19 4494173G> A null D N 260 260 missense 0.177 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs866430061 19p13.3 19 4494178G> C null E D 261 261 missense 0.007 benign 0.33 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs866430061 19p13.3 19 4494178G> T null E D 261 261 missense 0.007 benign 0.33 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1187402184 19p13.3 19 4494177A> G null E G 261 261 missense 0.558 possibly damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1224448436 19p13.3 19 4494186G> A null R H 264 264 missense 0.996 probably damaging 0.07 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1224448436 19p13.3 19 4494186G> T null R L 264 264 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs866627280 19p13.3 19 4494199G> T null W C 268 268 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1210769810 19p13.3 19 4494198G> C null W S 268 268 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1189073518 19p13.3 19 4494201A> T null K M 269 269 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1362251495 19p13.3 19 4494203C> G null R G 270 270 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs746479502 19p13.3 19 4494204G> A null R Q 270 270 missense 0.992 probably damaging 0.05 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs768083352 19p13.3 19 4494207G> T null R L 271 271 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs768083352 19p13.3 19 4494207G> A null R Q 271 271 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs776316604 19p13.3 19 4494211C> A null D E 272 272 missense 0.995 probably damaging 0.16 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1018908486 19p13.3 19 4494212G> A null E K 273 273 missense 0.987 probably damaging 0.05 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs761425096 19p13.3 19 4494215G> C null A P 274 274 missense 0.192 benign 0.05 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1330698344 19p13.3 19 4494216C> T null A V 274 274 missense 0.116 benign 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1291978426 19p13.3 19 4494219G> A null R Q 275 275 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1406815588 19p13.3 19 4494218C> T null R W 275 275 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs950384676 19p13.3 19 4494224C> T null R C 277 277 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1277582666 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.3 19 4494225G> A null R H 277 277 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs910101282 19p13.3 19 4494227G> A null E K 278 278 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1230523834 19p13.3 19 4494228A> T null E V 278 278 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,gnomAD rs543492320 19p13.3 19 4494231T> C null L P 279 279 2.0E-4 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,gnomAD rs543492320 19p13.3 19 4494231T> A null L Q 279 279 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC rs773784159 19p13.3 19 4494233G> A null E K 280 280 missense 0.986 probably damaging 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs974335741 19p13.3 19 4494236G> A null A T 281 281 missense 0.158 benign 0.2 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1488377453 19p13.3 19 4494240G> A null R Q 282 282 missense 0.086 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs551002920 19p13.3 19 4494242C> T null R W 283 283 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1192493498 19p13.3 19 4494246G> T null R L 284 284 missense 0.343 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs951411616 19p13.3 19 4494249G> T null R L 285 285 missense 0.2 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs951411616 19p13.3 19 4494249G> A null R Q 285 285 missense 0.007 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1422008685 19p13.3 19 4494261A> C null E A 289 289 missense 0.058 benign 0.05 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1160195278 19p13.3 19 4494263G> A null E K 290 290 missense 0.765 possibly damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1420524511 19p13.3 19 4494270G> A null R Q 292 292 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs556590987 19p13.3 19 4494269C> T null R W 292 292 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1297892451 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.3 19 4494272C> T null R C 293 293 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1358670895 19p13.3 19 4494273G> A null R H 293 293 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs934212134 19p13.3 19 4494278C> G null R G 295 295 missense 0.954 probably damaging 0.09 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs934212134 19p13.3 19 4494278C> T null R W 295 295 missense 0.981 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs767539131 19p13.3 19 4494290A> G null K E 299 299 missense 0.015 benign 0.07 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs892557055 19p13.3 19 4494295G> T null E D 300 300 missense 0.304 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1379035910 19p13.3 19 4494302G> A null E K 303 303 missense 0.84 possibly damaging 0.16 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1379035910 19p13.3 19 4494302G> C null E Q 303 303 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1354939902 19p13.3 19 4494310G> C null R S 305 305 missense 0.165 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs1568214722 19p13.3 19 4494312G> A null R H 306 306 missense 0.641 possibly damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs777975563 19p13.3 19 4494314G> A null E K 307 307 missense 0.434 benign 0.12 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs924261485 19p13.3 19 4494324A> G null D G 310 310 missense 0.0 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1483678425 19p13.3 19 4494326C> T null R C 311 311 missense 0.556 possibly damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs60970496 19p13.3 19 4494327G> A null R H 311 311 0.001398 missense 0.003 benign 0.05 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs60970496 19p13.3 19 4494327G> T null R L 311 311 0.001398 missense 0.099 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1210148204 19p13.3 19 4494330G> A null G E 312 312 missense 0.003 benign 0.18 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1236417694 19p13.3 19 4494334G> C null E D 313 313 missense 0.003 benign 0.26 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs758211864 19p13.3 19 4494335G> C null A P 314 314 missense 0.0 benign 0.23 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1380680027 19p13.3 19 4494342G> C null R P 316 316 missense 0.0 benign 0.1 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1380680027 19p13.3 19 4494342G> A null R Q 316 316 missense 0.003 benign 0.14 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs934329074 19p13.3 19 4494341C> T null R W 316 316 missense 0.339 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1406006207 19p13.3 19 4494360G> A null S N 322 322 missense 0.827 possibly damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372321802 19p13.3 19 4494363G> A null G E 323 323 0.002796 missense 0.003 benign 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1334844357 19p13.3 19 4494362G> A null G R 323 323 missense 0.221 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1334844357 19p13.3 19 4494362G> T null G W 323 323 missense 0.737 possibly damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1334026177 19p13.3 19 4494367C> G null D E 324 324 missense 0.003 benign 0.13 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1446438208 19p13.3 19 4494365G> A null D N 324 324 missense 0.077 benign 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1293550290 19p13.3 19 4494368G> A null E K 325 325 missense 0.982 probably damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs768192749 19p13.3 19 4494371C> G null L V 326 326 missense 0.018 benign 0.23 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs1033629677 19p13.3 19 4494375G> C null R T 327 327 missense 0.083 benign 0.2 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1007755174 19p13.3 19 4494377G> A null E K 328 328 missense 0.003 benign 0.09 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1007755174 19p13.3 19 4494377G> C null E Q 328 328 missense 0.047 benign 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1180681585 19p13.3 19 4494383G> A null D N 330 330 missense 0.147 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs896301716 19p13.3 19 4494384A> T null D V 330 330 missense 0.267 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs776065584 19p13.3 19 4494390C> T null P L 332 332 missense 0.119 benign 0.05 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1205597365 19p13.3 19 4494393T> C null V A 333 333 missense 0.001 benign 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs769508379 19p13.3 19 4494396A> G null K R 334 334 missense 0.005 benign 0.3 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs190117333 19p13.3 19 4494402G> C null R P 336 336 2.0E-4 missense 0.145 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs190117333 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.3 19 4494402G> A null R Q 336 336 2.0E-4 missense 0.85 possibly damaging 0.07 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs1026442246 19p13.3 19 4494401C> T null R W 336 336 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,gnomAD rs565996046 19p13.3 19 4494405G> A null G E 337 337 2.0E-4 missense 0.367 benign 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1209127988 19p13.3 19 4494404G> A null G R 337 337 missense 0.553 possibly damaging 0.13 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1200423780 19p13.3 19 4494407C> T null R C 338 338 missense 0.649 possibly damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1200423780 19p13.3 19 4494407C> G null R G 338 338 missense 0.198 benign 0.08 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1310303464 19p13.3 19 4494408G> A null R H 338 338 missense 0.579 possibly damaging 0.02 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs766886019 19p13.3 19 4494414G> T null G V 340 340 missense 0.367 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1005813052 19p13.3 19 4494417G> A null R Q 341 341 missense 0.979 probably damaging 0.04 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs760017272 19p13.3 19 4494419G> T null G C 342 342 missense 0.678 possibly damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs752650962 19p13.3 19 4494423G> T null R L 343 343 missense 0.556 possibly damaging 0.01 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs752650962 19p13.3 19 4494423G> A null R Q 343 343 missense 0.034 benign 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs767630158 19p13.3 19 4494422C> T null R W 343 343 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1320884352 19p13.3 19 4494426G> A null G D 344 344 missense 0.696 possibly damaging 0.03 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1401598297 19p13.3 19 4494429C> A null P H 345 345 missense 0.713 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1455021823 19p13.3 19 4494428C> T null P S 345 345 missense 0.118 benign 0.06 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs756199020 19p13.3 19 4494432C> A null P Q 346 346 missense 0.003 benign 0.11 tolerated 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs756199020 19p13.3 19 4494432C> G null P R 346 346 missense 0.003 benign 0.0 deleterious 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1247475905 19p13.3 19 4494444A> G null D G 350 350 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs758160399 19p13.3 19 4494451G> T null E D 352 352 missense 0.242 benign 0.06 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1263504267 19p13.3 19 4494449G> A null E K 352 352 missense 0.342 benign 0.01 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs779873648 19p13.3 19 4494452C> G null P A 353 353 missense 0.003 benign 0.1 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1219884104 19p13.3 19 4494453C> A null P H 353 353 missense 0.642 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs921572487 19p13.3 19 4494457G> T null E D 354 354 missense 0.055 benign 0.13 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1258181887 19p13.3 19 4494455G> A null E K 354 354 missense 0.802 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs751504637 19p13.3 19 4494458G> A null A T 355 355 missense 0.11 benign 0.07 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1363916774 19p13.3 19 4494461G> A null E K 356 356 missense 0.125 benign 0.02 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1363916774 19p13.3 19 4494461G> C null E Q 356 356 missense 0.403 benign 0.02 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1452029583 19p13.3 19 4494465T> C null L P 357 357 missense 0.003 benign 0.11 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1036151697 19p13.3 19 4494464C> G null L V 357 357 missense 0.146 benign 0.01 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1162965501 19p13.3 19 4496302G> A null A T 361 361 missense 0.06 benign 0.08 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs766195315 19p13.3 19 4496306A> G null K R 362 362 missense 0.007 benign 0.02 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC rs751249632 19p13.3 19 4496309A> G null K R 363 363 missense 0.981 probably damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs754819527 19p13.3 19 4496315C> T null A V 365 365 missense 0.003 benign 0.02 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs752716715 19p13.3 19 4496321A> T null K M 367 367 missense 0.996 probably damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs752716715 19p13.3 19 4496321A> G null K R 367 367 missense 0.981 probably damaging 0.04 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs201827223 19p13.3 19 4496324C> T null P L 368 368 missense 0.0 benign 0.97 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs940963072 19p13.3 19 4496323C> T null P S 368 368 missense 0.0 benign 0.47 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs748941988 19p13.3 19 4496328G> T null Q H 369 369 missense 0.001 benign 0.04 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1242580817 19p13.3 19 4496333C> T null S L 371 371 missense 0.01 benign 0.06 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs1455069212 19p13.3 19 4496336G> C null S T 372 372 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1226448701 19p13.3 19 4496341G> A null E K 374 374 missense 0.558 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,gnomAD rs374507407 19p13.3 19 4496345C> G null P R 375 375 missense 0.172 benign 0.01 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs1050936621 19p13.3 19 4496344C> T null P S 375 375 missense 0.003 benign 0.15 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs746168539 19p13.3 19 4496347G> A null A T 376 376 missense 0.0 benign 0.3 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs944662729 19p13.3 19 4496360G> A null G D 380 380 missense 0.118 benign 0.02 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1158856025 19p13.3 19 4496373G> T null K N 384 384 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1044749468 19p13.3 19 4496375G> C null R T 385 385 missense 0.978 probably damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369666897 19p13.3 19 4496380C> G null R G 387 387 2.0E-4 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ESP,ExAC,TOPMed,gnomAD rs373581575 19p13.3 19 4496381G> A null R Q 387 387 missense 0.979 probably damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369666897 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 19p13.3 19 4496380C> T null R W 387 387 2.0E-4 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs1568216070 19p13.3 19 4496383C> T null P S 388 388 missense 0.021 benign 0.18 tolerated - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs777824560 19p13.3 19 4496387A> C null E A 389 389 missense 0.263 benign 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs998759249 19p13.3 19 4496388G> C null E D 389 389 missense 0.007 benign 0.04 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs765322338 19p13.3 19 4496386G> A null E K 389 389 missense 0.275 benign 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs750684647 19p13.3 19 4496390A> G null E G 390 390 missense 0.26 benign 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs749172152 19p13.3 19 4496394G> C null K N 391 391 missense 0.313 benign 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1466443706 19p13.3 19 4496924A> G null E G 397 397 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1466061501 19p13.3 19 4496923G> C null E Q 397 397 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1352510454 19p13.3 19 4496926T> C null C R 398 398 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1459290195 19p13.3 19 4496930A> G null N S 399 399 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1352493900 19p13.3 19 4496936T> C null V A 401 401 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs867944669 19p13.3 19 4496935G> A null V M 401 401 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1380594665 19p13.3 19 4496940C> G null I M 402 402 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1404577239 19p13.3 19 4496944G> A null A T 404 404 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1440129772 19p13.3 19 4496952C> A null C * 406 406 stop gained 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1254477771 19p13.3 19 4496951G> T null C F 406 406 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1281395099 19p13.3 19 4496953A> G null N D 407 407 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1483840475 19p13.3 19 4496954A> T null N I 407 407 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1282569292 19p13.3 19 4496955C> A null N K 407 407 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs371753629 19p13.3 19 4496956C> T null L F 408 408 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1342516365 19p13.3 19 4496959C> T null R C 409 409 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1219780578 19p13.3 19 4496960G> A null R H 409 409 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1295550078 19p13.3 19 4496962C> T null L F 410 410 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1224186125 19p13.3 19 4496966C> T null P L 411 411 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1224186125 19p13.3 19 4496966C> G null P R 411 411 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs993567996 19p13.3 19 4496969G> A null G D 412 412 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1490067523 19p13.3 19 4496972C> G null S * 413 413 stop gained 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1490067523 19p13.3 19 4496972C> T null S L 413 413 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1264698997 19p13.3 19 4496977G> A null D N 415 415 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1477882520 19p13.3 19 4496981C> G null S C 416 416 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1477882520 19p13.3 19 4496981C> T null S F 416 416 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1160132290 19p13.3 19 4496984C> T null P L 417 417 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs775356478 19p13.3 19 4496983C> T null P S 417 417 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1454418430 19p13.3 19 4496987C> G null A G 418 418 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1340993187 19p13.3 19 4496986G> A null A T 418 418 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs550445924 19p13.3 19 4496999C> T null P L 422 422 2.0E-4 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs550445924 19p13.3 19 4496999C> A null P Q 422 422 2.0E-4 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs550445924 19p13.3 19 4496999C> G null P R 422 422 2.0E-4 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs995550404 19p13.3 19 4497002G> A null S N 423 423 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) Ensembl rs1026633561 19p13.3 19 4497005G> A null S N 424 424 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1424915278 19p13.3 19 4497008G> T null W L 425 425 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs889479085 19p13.3 19 4497015C> G null Y * 427 427 stop gained 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs980609247 19p13.3 19 4497020A> G null H R 429 429 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,TOPMed,gnomAD rs560817551 19p13.3 19 4497023C> T null P L 430 430 2.0E-4 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1280002529 19p13.3 19 4497025C> T null P S 431 431 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,TOPMed,gnomAD rs545762859 19p13.3 19 4497031C> T null R C 433 433 0.001398 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,TOPMed,gnomAD rs545762859 19p13.3 19 4497031C> G null R G 433 433 0.001398 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,gnomAD rs546345116 19p13.3 19 4497032G> A null R H 433 433 5.99E-4 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,TOPMed,gnomAD rs545762859 19p13.3 19 4497031C> A null R S 433 433 0.001398 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1313864955 19p13.3 19 4497041A> C null N T 436 436 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs957940701 19p13.3 19 4497061C> G null H D 443 443 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs957940701 19p13.3 19 4497061C> T null H Y 443 443 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1243278249 19p13.3 19 4497064G> A null G R 444 444 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs913557146 19p13.3 19 4497076T> C null C R 448 448 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1389490939 19p13.3 19 4497077G> A null C Y 448 448 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1214412207 19p13.3 19 4497080G> A null W * 449 449 stop gained 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs945053799 19p13.3 19 4497082C> T null P S 450 450 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,TOPMed,gnomAD rs183047202 19p13.3 19 4497094C> T null R * 454 454 0.002196 stop gained 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1384376014 19p13.3 19 4497095G> T null R L 454 454 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1384376014 19p13.3 19 4497095G> C null R P 454 454 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1384376014 19p13.3 19 4497095G> A null R Q 454 454 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs922350499 19p13.3 19 4497100C> G null P A 456 456 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,TOPMed,gnomAD rs377517187 19p13.3 19 4497101C> G null P R 456 456 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs922350499 19p13.3 19 4497100C> T null P S 456 456 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1382353093 19p13.3 19 4497103G> C null D H 457 457 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1382353093 19p13.3 19 4497103G> A null D N 457 457 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1470932810 19p13.3 19 4497106C> G null P A 458 458 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1420543079 19p13.3 19 4497107C> T null P L 458 458 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1343567784 19p13.3 19 4497109G> A null V M 459 459 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs552567581 19p13.3 19 4497119C> T null P L 462 462 2.0E-4 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1336731014 19p13.3 19 4497118C> T null P S 462 462 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1318425107 19p13.3 19 4497121C> T null P S 463 463 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1382465983 19p13.3 19 4497127C> T null P S 465 465 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1450842864 19p13.3 19 4497133A> G null K E 467 467 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed,gnomAD rs1050551166 19p13.3 19 4497136G> A null V M 468 468 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) ExAC,gnomAD rs764852011 19p13.3 19 4497139C> G null L V 469 469 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) gnomAD rs1281512676 19p13.3 19 4497152T> C null V A 473 473 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs1329996908 19p13.3 19 4497151G> C null V L 473 473 missense 0.0 unknown 0 A0A087WT54 HDGFL2 Hepatoma-derived growth factor-related protein 2 (Fragment) TOPMed rs889305691 19p13.3 19 4497156de l null * W 474 474 stop lost 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1418574152 3p21.1 3 53347514C> G null E Q 2 2 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs555794342 3p21.1 3 53347510G> C null A G 3 3 2.0E-4 missense 0.119 benign 0.1 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1045923396 3p21.1 3 53347511C> A null A S 3 3 missense 0.0 benign 1.0 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1045923396 3p21.1 3 53347511C> T null A T 3 3 missense 0.068 benign 0.37 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs555794342 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p21.1 3 53347510G> A null A V 3 3 2.0E-4 missense 0.072 benign 0.02 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553693324 3p21.1 3 53347505T> C null S G 5 5 missense 0.0 benign 0.08 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,gnomAD rs373645946 3p21.1 3 53347501C> A null R L 6 6 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,gnomAD rs373645946 3p21.1 3 53347501C> T null R Q 6 6 missense 0.996 probably damaging 0.11 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553693321 3p21.1 3 53347498G> C null A G 7 7 missense 0.997 probably damaging 0.06 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553693321 3p21.1 3 53347498G> A null A V 7 7 missense 0.997 probably damaging 0.05 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553693314 3p21.1 3 53347495C> A null G V 8 8 missense 0.866 possibly damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782188181 3p21.1 3 53347493G> C null Q E 9 9 missense 0.466 possibly damaging 0.27 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782593017 3p21.1 3 53347491C> A null Q H 9 9 missense 0.904 possibly damaging 0.91 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782188181 3p21.1 3 53347493G> T null Q K 9 9 missense 0.39 benign 0.27 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553693313 3p21.1 3 53347492T> A null Q L 9 9 missense 0.407 benign 0.94 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782478831 3p21.1 3 53347489T> C null E G 10 10 missense 0.997 probably damaging 0.11 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs991231357 3p21.1 3 53347490C> T null E K 10 10 missense 0.996 probably damaging 0.16 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1360966904 3p21.1 3 53347485C> A null M I 11 11 missense 0.974 probably damaging 0.53 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs781836859 3p21.1 3 53347486A> C null M R 11 11 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs1559712142 3p21.1 3 53347487T> C null M V 11 11 missense 0.959 probably damaging 0.05 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1449088491 3p21.1 3 53347484T> C null S G 12 12 missense 0.99 probably damaging 0.04 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782777635 3p21.1 3 53347483C> G null S T 12 12 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553693298 3p21.1 3 53347477G> C null A G 14 14 missense 0.998 probably damaging 0.05 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1363231091 3p21.1 3 53347478C> T null A T 14 14 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553693298 3p21.1 3 53347477G> A null A V 14 14 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes,TOPMed,gnomAD rs148239880 3p21.1 3 53347464T> G null Q H 18 18 2.0E-4 missense 0.724 possibly damaging 0.02 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782695330 3p21.1 3 53347461G> C null H Q 19 19 missense 0.998 probably damaging 0.36 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553693295 3p21.1 3 53347462T> C null H R 19 19 missense 0.995 probably damaging 0.14 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782065939 3p21.1 3 53347457G> C null P A 21 21 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782065939 3p21.1 3 53347457G> A null P S 21 21 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs781953979 3p21.1 3 53347453T> C null Y C 22 22 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782105544 3p21.1 3 53347449G> C null I M 23 23 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782744342 3p21.1 3 53347451T> C null I V 23 23 missense 0.976 probably damaging 0.1 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs1029569349 3p21.1 3 53347439C> A null A S 27 27 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782403975 3p21.1 3 53347438G> A null A V 27 27 missense 0.997 probably damaging 1.0 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782285772 3p21.1 3 53347435T> C null D G 28 28 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782333401 3p21.1 3 53347433G> A null L F 29 29 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782333401 3p21.1 3 53347433G> C null L V 29 29 missense 0.995 probably damaging 1.0 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1275975445 3p21.1 3 53347423T> G null Q P 32 32 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1370813031 3p21.1 3 53344929A> G null I T 37 37 missense 0.487 possibly damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553692983 3p21.1 3 53344930T> C null I V 37 37 missense 0.204 benign 0.76 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1170980876 3p21.1 3 53344915A> G null F L 42 42 missense 0.469 possibly damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs781860038 3p21.1 3 53344912C> T null V I 43 43 missense 0.087 benign 0.04 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553692976 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney pubmed:22461374,cosmic_study:411 3p21.1 3 53344905C> T null R Q 45 45 missense 0.791 possibly damaging 0.08 tolerated 1 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs1559709206 3p21.1 3 53342266G> C null A G 48 48 missense 0.775 possibly damaging 0.09 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782232723 3p21.1 3 53342263G> A null S F 49 49 missense 0.929 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782520534 3p21.1 3 53342243T> C null I V 56 56 missense 0.976 probably damaging 0.03 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs781893027 3p21.1 3 53342233C> G null R P 59 59 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs781893027 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p21.1 3 53342233C> T null R Q 59 59 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs549323885 3p21.1 3 53342221T> C null H R 63 63 3.99E-4 missense 0.009 benign 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553692605 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 3p21.1 3 53342222G> A null H Y 63 63 missense 0.628 possibly damaging 0.0 deleterious 1 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs1023326886 3p21.1 3 53342207G> A null P S 68 68 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553692604 3p21.1 3 53342204C> T null V M 69 69 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553692603 3p21.1 3 53342201T> C null N D 70 70 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553692602 3p21.1 3 53342197T> G null K T 71 71 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1356509985 3p21.1 3 53342176T> C null H R 78 78 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782186041 3p21.1 3 53319471A> C null S A 90 90 missense 0.99 probably damaging 0.16 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,NCI-TCGA,gnomAD rs782599555 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p21.1 3 53319470G> A null S L 90 90 missense 0.996 probably damaging 0.04 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs1553689661 3p21.1 3 53319468T> C null I V 91 91 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553689656 3p21.1 3 53319442C> G null K N 99 99 missense 0.705 possibly damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553689655 3p21.1 3 53319437T> C null D G 101 101 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs868986097 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 3p21.1 3 53319429G> A null R C 104 104 missense 0.999 probably damaging 0.0 deleterious 1 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs868986097 3p21.1 3 53319429G> T null R S 104 104 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs782405748 3p21.1 3 53319422G> A null A V 106 106 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs868916670 3p21.1 3 53319411C> A null A S 110 110 missense 0.02 benign 0.5 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553689644 3p21.1 3 53319407T> C null D G 111 111 missense 0.1 benign 0.04 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782331318 3p21.1 3 53312377A> G null V A 112 112 missense 0.529 possibly damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553688783 3p21.1 3 53312378C> T null V M 112 112 missense 0.807 possibly damaging 0.04 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782428638 3p21.1 3 53312371T> C null E G 114 114 missense 0.353 benign 0.02 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782384105 3p21.1 3 53312363T> C null T A 117 117 missense 0.013 benign 0.78 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553688778 3p21.1 3 53312362G> A null T I 117 117 missense 0.502 possibly damaging 0.42 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs375482000 3p21.1 3 53312359C> T null R Q 118 118 missense 0.009 benign 0.7 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553688771 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 3p21.1 3 53312357G> A null R * 119 119 missense 1 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs371981905 3p21.1 3 53312356C> A null R L 119 119 missense 0.699 possibly damaging 0.12 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs371981905 3p21.1 3 53312356C> T null R Q 119 119 missense 0.72 possibly damaging 0.07 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs781800850 3p21.1 3 53312348G> C null Q E 122 122 missense 0.068 benign 0.07 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs781800850 3p21.1 3 53312348G> T null Q K 122 122 missense 0.041 benign 0.13 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs374552339 3p21.1 3 53312342C> G null A P 124 124 missense 0.88 possibly damaging 0.02 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs371174565 3p21.1 3 53312341G> A null A V 124 124 missense 0.023 benign 0.19 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782145277 3p21.1 3 53312338C> G null R P 125 125 missense 0.46 possibly damaging 0.47 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782145277 3p21.1 3 53312338C> T null R Q 125 125 missense 0.007 benign 0.69 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs115623412 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p21.1 3 53312339G> A null R W 125 125 3.99E-4 missense 0.707 possibly damaging 0.02 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1350541363 3p21.1 3 53312336C> T null D N 126 126 missense 0.366 benign 0.27 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs374467108 3p21.1 3 53312332T> C null K R 127 127 missense 0.019 benign 1.0 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782069511 3p21.1 3 53312330G> C null Q E 128 128 missense 0.45 possibly damaging 1.0 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs368873914 3p21.1 3 53312317T> G null Q P 132 132 missense 0.736 possibly damaging 0.23 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs368873914 3p21.1 3 53312317T> C null Q R 132 132 missense 0.009 benign 1.0 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553688755 3p21.1 3 53312314G> C null A G 133 133 missense 0.764 possibly damaging 0.21 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs1559692298 3p21.1 3 53312315C> A null A S 133 133 missense 0.7 possibly damaging 0.46 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs781961356 3p21.1 3 53312311T> C null N S 134 134 missense 0.506 possibly damaging 0.18 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782127033 3p21.1 3 53312300C> T null D N 138 138 missense 0.012 benign 0.18 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553688746 3p21.1 3 53312296T> G null H P 139 139 missense 0.33 benign 0.5 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553688741 3p21.1 3 53312294T> C null R G 140 140 missense 0.995 probably damaging 0.04 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1250537381 3p21.1 3 53312288T> C null I V 142 142 missense 0.148 benign 1.0 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1479573536 3p21.1 3 53312284T> C null D G 143 143 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782574546 3p21.1 3 53312285C> T null D N 143 143 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs550814775 3p21.1 3 53312253A> T null D E 153 153 missense 0.023 benign 0.39 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,NCI-TCGA,gnomAD rs782339040 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 3p21.1 3 53312255C> A null D Y 153 153 missense 0.737 possibly damaging 0.0 deleterious 1 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1434460474 3p21.1 3 53304290T> C null N D 158 158 missense 0.133 benign 0.39 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1434460474 3p21.1 3 53304290T> A null N Y 158 158 missense 0.502 possibly damaging 0.05 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs782397128 3p21.1 3 53304285C> G null Q H 159 159 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs987326798 3p21.1 3 53304286T> C null Q R 159 159 missense 0.979 probably damaging 0.1 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1397418802 3p21.1 3 53304282C> T null M I 160 160 missense 0.0 benign 0.31 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553687738 3p21.1 3 53304283A> G null M T 160 160 missense 0.007 benign 0.73 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553687732 3p21.1 3 53304280C> T null G D 161 161 missense 0.326 benign 0.4 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782236262 3p21.1 3 53304278C> T null D N 162 162 missense 0.287 benign 0.23 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782522010 3p21.1 3 53304275A> G null S P 163 163 missense 0.943 probably damaging 0.07 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs781899265 3p21.1 3 53304272T> C null N D 164 164 missense 0.001 benign 0.75 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553687723 3p21.1 3 53304271T> A null N I 164 164 missense 0.106 benign 0.3 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553687723 3p21.1 3 53304271T> C null N S 164 164 missense 0.02 benign 0.87 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes,ExAC,gnomAD rs532211617 3p21.1 3 53304269T> C null I V 165 165 2.0E-4 missense 0.031 benign 0.45 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1299691483 3p21.1 3 53304263T> C null S G 167 167 missense 0.627 possibly damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782450557 3p21.1 3 53304259G> A null P L 168 168 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1209871192 3p21.1 3 53304251G> A null Q * 171 171 stop gained 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782733652 3p21.1 3 53304245T> C null S G 173 173 missense 0.0 benign 0.09 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553687708 3p21.1 3 53304239G> T null Q K 175 175 missense 0.052 benign 0.92 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782117070 3p21.1 3 53304224C> T null G R 180 180 missense 0.751 possibly damaging 0.21 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782117070 3p21.1 3 53304224C> G null G R 180 180 missense 0.751 possibly damaging 0.21 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782809151 3p21.1 3 53304217G> A null T I 182 182 missense 0.003 benign 0.52 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782809151 3p21.1 3 53304217G> C null T S 182 182 missense 0.001 benign 0.26 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782335911 3p21.1 3 53304213C> G null E D 183 183 missense 0.987 probably damaging 0.1 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs781928225 3p21.1 3 53304215C> T null E K 183 183 missense 0.992 probably damaging 0.43 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1190646494 3p21.1 3 53304212T> C null T A 184 184 missense 0.225 benign 0.72 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes,ExAC,gnomAD rs142210344 3p21.1 3 53304208A> G null L P 185 185 2.0E-4 missense 0.804 possibly damaging 0.2 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553687698 3p21.1 3 53304199A> G null M T 188 188 missense 0.0 benign 0.64 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs371414874 3p21.1 3 53304197G> A null P S 189 189 missense 0.001 benign 0.3 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs376112114 3p21.1 3 53304193G> A null S F 190 190 missense 0.714 possibly damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs376112114 3p21.1 3 53304193G> T null S Y 190 190 missense 0.714 possibly damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373139513 3p21.1 3 53304191C> T null G R 191 191 2.0E-4 missense 1.0 probably damaging 0.46 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1303040560 3p21.1 3 53304187G> A null S L 192 192 missense 0.0 benign 0.4 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs562288312 3p21.1 3 53304185G> T null Q K 193 193 2.0E-4 missense 0.968 probably damaging 0.04 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs1553687685 3p21.1 3 53304184T> G null Q P 193 193 missense 0.991 probably damaging 0.12 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782342251 3p21.1 3 53292823G> A null A V 197 197 missense 0.04 benign 0.45 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl,NCI-TCGA rs267599901 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 3p21.1 3 53292820G> A null P L 198 198 missense 0.003 benign 0.12 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1469149676 3p21.1 3 53292811T> C null H R 201 201 missense 0.189 benign 0.57 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs913746501 3p21.1 3 53292805T> C null H R 203 203 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs988906652 3p21.1 3 53292799G> A null T M 205 205 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1162691871 3p21.1 3 53292778G> T null T N 212 212 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1388721658 3p21.1 3 53292775G> C null S C 213 213 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed,gnomAD rs1388721658 3p21.1 3 53292775G> A null S F 213 213 missense 0.898 possibly damaging 0.07 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782278076 3p21.1 3 53292769G> C null P R 215 215 missense 0.856 possibly damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1335428930 3p21.1 3 53292764C> T null E K 217 217 missense 0.631 possibly damaging 0.02 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553686338 3p21.1 3 53292760T> C null Q R 218 218 missense 0.311 benign 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes rs545563039 3p21.1 3 53292758G> T null P T 219 219 2.0E-4 missense 0.766 possibly damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553686336 3p21.1 3 53292754G> T null A E 220 220 missense 0.068 benign 0.39 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1281362565 3p21.1 3 53292746C> A null G C 223 223 missense 0.845 possibly damaging 0.17 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553686333 3p21.1 3 53292739T> A null D V 225 225 missense 0.429 benign 0.05 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs369538805 3p21.1 3 53292736G> A null S L 226 226 missense 0.189 benign 0.23 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553686325 3p21.1 3 53292725C> G null E Q 230 230 missense 0.542 possibly damaging 0.04 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) gnomAD rs1553686322 3p21.1 3 53292721C> T null R K 231 231 missense 0.0 benign 1.0 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782617481 3p21.1 3 53292717C> A null L F 232 232 missense 0.203 benign 0.02 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs782494181 3p21.1 3 53292716G> A null P S 233 233 missense 0.189 benign 0.06 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,gnomAD rs781859914 3p21.1 3 53292712C> T null G E 234 234 missense 0.005 benign 0.29 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs375268167 3p21.1 3 53292708A> T null D E 235 235 missense 0.02 benign 0.19 tolerated 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782161271 3p21.1 3 53292709T> C null D G 235 235 missense 0.583 possibly damaging 0.01 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs782789189 3p21.1 3 53292710C> A null D Y 235 235 missense 0.929 probably damaging 0.0 deleterious 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs960146118 3p21.1 3 53292695C> T null E K 240 240 missense 0.304 benign 0.01 deleterious - low confidence 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs781966543 3p21.1 3 53292688T> A null N I 242 242 missense 0.109 benign 0.01 deleterious - low confidence 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ExAC,TOPMed,gnomAD rs781966543 3p21.1 3 53292688T> C null N S 242 242 missense 0.0 benign 0.71 tolerated - low confidence 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372198236 3p21.1 3 53292680G> C null L V 245 245 0.002396 missense 0.624 possibly damaging 0.1 tolerated - low confidence 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) TOPMed rs1182965819 3p21.1 3 53292676G> C null P R 246 246 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) Ensembl rs1559681067 3p21.1 3 53292661T> C null Q R 251 251 missense 0.003 benign 0.01 deleterious - low confidence 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) ESP,ExAC,TOPMed,gnomAD rs374845014 3p21.1 3 53292659A> T null L I 252 252 missense 0.085 benign 0.01 deleterious - low confidence 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs186062414 3p21.1 3 53292650C> T null A T 255 255 3.99E-4 missense 0.0 benign 0.56 tolerated - low confidence 0 A0A087WT55 DCP1A mRNA-decapping enzyme 1A (Fragment) 1000Genomes rs536298652 3p21.1 3 53292643T> G null Q P 257 257 2.0E-4 missense 0.0 benign 0.08 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 gnomAD rs1212657630 10q11.22 10 45663721T> C null D G 2 2 missense 0.08 benign 0.15 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 gnomAD rs540870449 10q11.22 10 45663718T> C null N S 3 3 missense 0.995 probably damaging 0.07 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 gnomAD rs1448092326 10q11.22 10 45663712T> A null K I 5 5 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199552104 10q11.22 10 45663710C> G null E Q 6 6 2.0E-4 missense 0.856 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,TOPMed,gnomAD rs754529572 10q11.22 10 45663707G> A null P S 7 7 missense 0.986 probably damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,TOPMed,gnomAD rs200870749 10q11.22 10 45663703G> A null P L 8 8 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1197548639 10q11.22 10 45663694T> C null N S 11 11 missense 0.995 probably damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,TOPMed,gnomAD rs779725103 10q11.22 10 45663695T> A null N Y 11 11 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 1000Genomes,ExAC,gnomAD rs559722062 10q11.22 10 45663691T> C null D G 12 12 3.99E-4 missense 0.647 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 Ensembl rs1056981420 10q11.22 10 45663692C> T null D N 12 12 missense 0.57 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs561427287 10q11.22 10 45663688T> C null D G 13 13 2.0E-4 missense 0.998 probably damaging 0.05 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,TOPMed,gnomAD rs764617835 10q11.22 10 45663685T> A null N I 14 14 missense 0.937 probably damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,gnomAD rs756620121 10q11.22 10 45663684G> T null N K 14 14 missense 0.755 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,TOPMed,gnomAD rs764617835 10q11.22 10 45663685T> C null N S 14 14 missense 0.131 benign 0.31 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1179791835 10q11.22 10 45663682A> G null M T 15 15 missense 0.146 benign 0.02 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,gnomAD rs753265778 10q11.22 10 45663683T> C null M V 15 15 missense 0.01 benign 0.49 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ESP,TOPMed rs371919051 10q11.22 10 45663677G> C null P A 17 17 missense 0.132 benign 0.3 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ESP,TOPMed rs371919051 10q11.22 10 45663677G> T null P T 17 17 missense 0.219 benign 0.08 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 1000Genomes,TOPMed rs184635659 10q11.22 10 45663670T> C null Y C 19 19 2.0E-4 missense 0.049 benign 0.05 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,gnomAD rs759696181 10q11.22 10 45663667T> C null Y C 20 20 missense 0.059 benign 0.07 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs143802814 10q11.22 10 45663668A> G null Y H 20 20 3.99E-4 missense 0.945 probably damaging 0.02 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed,gnomAD rs981169861 10q11.22 10 45663662G> A null L F 22 22 missense 0.169 benign 0.07 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed,gnomAD rs981169861 10q11.22 10 45663662G> C null L V 22 22 missense 0.614 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ESP,ExAC,TOPMed,gnomAD rs377763230 10q11.22 10 45663658T> C null H R 23 23 missense 0.429 benign 0.11 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 gnomAD rs1212759248 10q11.22 10 45663649T> C null D G 26 26 missense 0.734 possibly damaging 0.07 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1390127212 10q11.22 10 45663647T> C null T A 27 27 missense 0.174 benign 0.06 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ESP,ExAC,gnomAD rs138100268 10q11.22 10 45663646G> A null T I 27 27 missense 0.948 probably damaging 0.04 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,TOPMed,gnomAD rs748021246 10q11.22 10 45663644T> C null M V 28 28 missense 0.023 benign 0.01 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,gnomAD rs776661772 10q11.22 10 45663640T> C null E G 29 29 missense 0.954 probably damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147435712 10q11.22 10 45663638G> A null L F 30 30 2.0E-4 missense 0.072 benign 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 gnomAD rs1287312517 10q11.22 10 45663635A> T null F I 31 31 missense 0.748 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,TOPMed,gnomAD rs746504252 10q11.22 10 45663632T> C null I V 32 32 missense 0.124 benign 0.04 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,gnomAD rs779486174 10q11.22 10 45663620T> C null T A 36 36 missense 0.995 probably damaging 0.04 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,gnomAD rs778222723 10q11.22 10 45663598C> G null R T 43 43 missense 0.939 probably damaging 0.03 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC rs753220445 10q11.22 10 45663589G> C null P R 46 46 missense 0.17 benign 0.01 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1310277834 10q11.22 10 45663586A> G null F S 47 47 missense 0.889 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1229351437 10q11.22 10 45663583T> C null E G 48 48 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,TOPMed,gnomAD rs781704435 10q11.22 10 45663578C> A null V F 50 50 missense 0.965 probably damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 1000Genomes,ExAC,TOPMed,gnomAD rs201469211 10q11.22 10 45663575T> C null I V 51 51 2.0E-4 missense 0.209 benign 0.12 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,gnomAD rs751648215 10q11.22 10 45663572A> T null S T 52 52 missense 0.878 possibly damaging 0.05 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ExAC,gnomAD rs766437774 10q11.22 10 45663571G> T null S Y 52 52 missense 0.174 benign 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 gnomAD rs1485290107 10q11.22 10 45663563C> T null A T 55 55 missense 0.124 benign 0.01 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 ESP,NCI-TCGA,TOPMed,gnomAD rs368287681 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 10q11.22 10 45663554G> A null R * 58 58 stop gained 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed,gnomAD rs1346322819 10q11.22 10 45663553C> G null R P 58 58 missense 0.836 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed,gnomAD rs1346322819 10q11.22 10 45663553C> T null R Q 58 58 missense 0.03 benign 1.0 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1267058061 10q11.22 10 45663546C> G null L F 60 60 missense 0.999 probably damaging 0.03 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1364405477 10q11.22 10 45662675C> G null G A 64 64 missense 0.0 benign 0.45 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1472414372 10q11.22 10 45662671A> T null D E 65 65 missense 0.631 possibly damaging 0.48 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1157214249 10q11.22 10 45662669G> C null P R 66 66 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 gnomAD rs1393385067 10q11.22 10 45662670G> A null P S 66 66 missense 0.0 unknown 0.07 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1431979588 10q11.22 10 45662667T> C null T A 67 67 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed,gnomAD rs888395725 10q11.22 10 45662666G> A null T I 67 67 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 1000Genomes rs563829149 10q11.22 10 45662648G> A null P L 73 73 2.0E-4 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 Ensembl rs933587950 10q11.22 10 45662642G> A null P L 75 75 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1393601059 10q11.22 10 45662640C> A null V L 76 76 missense 0.0 unknown 0.42 tolerated - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1350537639 10q11.22 10 45662636G> A null T I 77 77 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed,gnomAD rs1293025389 10q11.22 10 45662628C> T null A T 80 80 missense 0.0 unknown 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 1000Genomes,TOPMed rs187456933 10q11.22 10 45662614C> T null M I 84 84 2.0E-4 missense 0.0 unknown 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 1000Genomes,TOPMed rs187456933 10q11.22 10 45662614C> G null M I 84 84 2.0E-4 missense 0.0 unknown 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 Ensembl rs922096729 10q11.22 10 45662609A> G null L P 86 86 missense 0.0 unknown 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1255155004 10q11.22 10 45662598C> T null V I 90 90 missense 0.0 unknown 0 A0A087WT56 ZFAND4 AN1-type zinc finger protein 4 TOPMed rs1041494269 10q11.22 10 45662591G> C null P R 92 92 missense 0.0 unknown 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs754234486 20q13.33 20 63735465G> A null R Q 2 2 missense 0.0 unknown 0.28 tolerated - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) 1000Genomes,gnomAD rs561163473 20q13.33 20 63735464C> T null R W 2 2 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs757648210 20q13.33 20 63735468C> T null A V 3 3 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs779452220 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.33 20 63735471T> C null L P 4 4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs750029707 20q13.33 20 63735473A> G null S G 5 5 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs758086425 20q13.33 20 63735474G> C null S T 5 5 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200601981 20q13.33 20 63735480G> A null R Q 7 7 5.99E-4 missense 0.0 unknown 0.47 tolerated - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs200685533 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 20q13.33 20 63735479C> T null R W 7 7 2.0E-4 missense 0.0 unknown 0.0 deleterious - low confidence 1 A0A087WT57 null Uncharacterized protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs368559585 20q13.33 20 63735487C> A null F L 9 9 missense 0.0 unknown 0.2 tolerated - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1399367137 20q13.33 20 63735488C> A null Q K 10 10 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) Ensembl rs986789451 20q13.33 20 63735497G> A null E K 13 13 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1335449403 20q13.33 20 63735502G> C null K N 14 14 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs967802990 20q13.33 20 63735506G> A null E K 16 16 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs769506983 20q13.33 20 63735509C> T null R * 17 17 stop gained 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs773000592 20q13.33 20 63735510G> A null R Q 17 17 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs532583468 20q13.33 20 63735519G> A null R Q 20 20 2.0E-4 missense 0.0 unknown 0.03 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs772404661 20q13.33 20 63735518C> T null R W 20 20 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1191456735 20q13.33 20 63735525T> G null I S 22 22 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1486639481 20q13.33 20 63735524A> G null I V 22 22 missense 0.0 unknown 0.25 tolerated - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs764293064 20q13.33 20 63735528G> A null R K 23 23 missense 0.0 unknown 0.42 tolerated - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs760857342 20q13.33 20 63735527A> T null R W 23 23 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs754357232 20q13.33 20 63735531G> C null S T 24 24 missense 0.0 unknown 0.48 tolerated - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1375648178 20q13.33 20 63735534T> A null I N 25 25 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146057569 20q13.33 20 63735539G> A null E K 27 27 3.99E-4 missense 0.0 unknown 0.25 tolerated - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs375085287 20q13.33 20 63735548G> A null A T 30 30 missense 0.0 unknown 0.36 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs760288064 20q13.33 20 63735551C> T null R C 31 31 missense 0.0 unknown 0.13 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs765638920 20q13.33 20 63735552G> A null R H 31 31 missense 0.0 unknown 0.04 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs765638920 20q13.33 20 63735552G> C null R P 31 31 missense 0.0 unknown 0.27 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs760288064 20q13.33 20 63735551C> A null R S 31 31 missense 0.0 unknown 0.84 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) Ensembl rs1043789056 20q13.33 20 63735554A> G null N D 32 32 missense 0.0 unknown 0.12 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs368346804 20q13.33 20 63735557G> T null A S 33 33 missense 0.258 benign 0.32 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs368346804 20q13.33 20 63735557G> A null A T 33 33 missense 0.076 benign 0.32 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs754468543 20q13.33 20 63735561G> A null G D 34 34 missense 0.0 unknown 0.82 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs1195382100 20q13.33 20 63735560G> A null G S 34 34 missense 0.0 benign 0.67 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs200051356 20q13.33 20 63735564G> C null R P 35 35 missense 0.975 probably damaging 0.09 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs200051356 20q13.33 20 63735564G> A null R Q 35 35 missense 0.52 possibly damaging 0.05 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,NCI-TCGA,TOPMed,gnomAD rs780681193 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.33 20 63735563C> T null R W 35 35 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs771705283 20q13.33 20 63737853C> A null A E 38 38 missense 0.459 possibly damaging 0.12 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs759522324 20q13.33 20 63737852G> A null A T 38 38 missense 0.024 benign 0.27 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs771705283 20q13.33 20 63737853C> T null A V 38 38 missense 0.003 benign 0.5 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs775414822 20q13.33 20 63737855C> T null R W 39 39 missense 0.877 possibly damaging 0.02 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ESP,ExAC,gnomAD rs370278141 20q13.33 20 63737858A> G null R G 40 40 missense 0.031 benign 0.04 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs765485708 20q13.33 20 63737862A> G null Q R 41 41 missense 0.308 benign 0.2 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) Ensembl rs1568807578 20q13.33 20 63737864C> G null R G 42 42 missense 0.058 benign 0.55 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1455678772 20q13.33 20 63737865G> C null R P 42 42 missense 0.0 benign 0.39 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) 1000Genomes,TOPMed rs559339736 20q13.33 20 63737868C> T null A V 43 43 3.99E-4 missense 0.099 benign 0.24 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs750482092 20q13.33 20 63737873C> A null L M 45 45 missense 0.865 possibly damaging 0.13 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1327959474 20q13.33 20 63737874T> G null L R 45 45 missense 0.154 benign 0.09 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs541535547 20q13.33 20 63737878G> C null Q H 46 46 2.0E-4 missense 0.85 possibly damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) 1000Genomes,ExAC,TOPMed,gnomAD rs572847837 20q13.33 20 63737877A> C null Q P 46 46 2.0E-4 missense 0.003 benign 0.04 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs751947812 20q13.33 20 63737886C> A null A E 49 49 missense 0.052 benign 1.0 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs751947812 20q13.33 20 63737886C> T null A V 49 49 missense 0.003 benign 0.6 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs781401062 cosmic curated [Cosmic]: large_intestine cosmic_study:376 20q13.33 20 63737891G> A null A T 51 51 missense 0.0 benign 0.56 tolerated 1 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs753142248 20q13.33 20 63737898A> C null E A 53 53 missense 0.112 benign 0.03 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1254284819 20q13.33 20 63737899A> C null E D 53 53 missense 0.023 benign 0.35 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs374534157 20q13.33 20 63737901C> T null A V 54 54 missense 0.003 benign 0.66 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1415239949 20q13.33 20 63737974C> T null S F 55 55 missense 0.797 possibly damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1374557234 20q13.33 20 63737973T> A null S T 55 55 missense 0.538 possibly damaging 0.07 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1213448319 20q13.33 20 63737986G> A null R Q 59 59 missense 0.003 benign 1.0 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1295613731 20q13.33 20 63737989C> A null T N 60 60 missense 0.009 benign 0.22 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1209275678 20q13.33 20 63737991C> T null H Y 61 61 missense 0.003 benign 0.2 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1486193742 20q13.33 20 63737994C> T null L F 62 62 missense 0.907 possibly damaging 0.04 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1486193742 20q13.33 20 63737994C> A null L I 62 62 missense 0.29 benign 0.05 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs1265139079 20q13.33 20 63737995T> C null L P 62 62 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) Ensembl rs865851345 20q13.33 20 63737999C> A null C * 63 63 missense 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1240541888 20q13.33 20 63738001C> T null S F 64 64 missense 0.813 possibly damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs1242871751 20q13.33 20 63738013C> T null S L 68 68 missense 0.872 possibly damaging 0.03 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1187355793 20q13.33 20 63738012T> C null S P 68 68 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1431520701 20q13.33 20 63738015G> C null D H 69 69 missense 0.204 benign 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1431520701 20q13.33 20 63738015G> A null D N 69 69 missense 0.844 possibly damaging 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1171683083 20q13.33 20 63738019C> G null T S 70 70 missense 0.208 benign 0.12 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC rs776428251 20q13.33 20 63738021A> G null R G 71 71 missense 0.005 benign 0.08 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1435081684 20q13.33 20 63738027C> T null H Y 73 73 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) Ensembl rs868266844 20q13.33 20 63738032G> T null E D 74 74 missense 0.441 benign 0.04 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs749503657 20q13.33 20 63738030G> A null E K 74 74 missense 0.578 possibly damaging 0.03 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs749503657 20q13.33 20 63738030G> C null E Q 74 74 missense 0.971 probably damaging 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs1410894274 20q13.33 20 63738036C> T null H Y 76 76 missense 0.1 benign 0.15 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs767522796 20q13.33 20 63738040G> C null R P 77 77 missense 0.899 possibly damaging 0.03 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs767522796 20q13.33 20 63738040G> A null R Q 77 77 missense 0.056 benign 0.09 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116144371 20q13.33 20 63738039C> T null R W 77 77 0.009784 missense 0.938 probably damaging 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1237182012 20q13.33 20 63738043G> A null G D 78 78 missense 0.906 possibly damaging 0.06 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs867404232 20q13.33 20 63738046C> T null P L 79 79 missense 0.011 benign 0.09 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs867404232 20q13.33 20 63738046C> A null P Q 79 79 missense 0.019 benign 0.22 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs761276651 20q13.33 20 63738048C> T null R C 80 80 missense 0.339 benign 0.11 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1244125080 20q13.33 20 63738049G> T null R L 80 80 missense 0.0 benign 0.37 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1428798038 20q13.33 20 63738054A> G null S G 82 82 missense 0.056 benign 0.18 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1467184298 20q13.33 20 63738055G> A null S N 82 82 missense 0.005 benign 0.25 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1270111811 20q13.33 20 63738060G> T null A S 84 84 missense 0.629 possibly damaging 0.04 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1270111811 20q13.33 20 63738060G> A null A T 84 84 missense 0.32 benign 0.04 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs746080024 20q13.33 20 63738183C> T null A V 84 84 missense 0.103 benign 0.08 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs868313270 20q13.33 20 63738188C> T null R W 86 86 missense 0.975 probably damaging 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1406669787 20q13.33 20 63738192C> T null P L 87 87 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs775769607 20q13.33 20 63738194G> A null A T 88 88 missense 0.66 possibly damaging 0.09 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1335736788 20q13.33 20 63738197A> G null S G 89 89 missense 0.341 benign 0.03 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1443347521 20q13.33 20 63738198G> C null S T 89 89 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1281597981 20q13.33 20 63738201T> C null M T 90 90 missense 0.01 benign 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1353981245 20q13.33 20 63738206C> A null L I 92 92 missense 0.077 benign 0.09 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1469789089 20q13.33 20 63738209C> G null L V 93 93 missense 0.789 possibly damaging 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs761260046 20q13.33 20 63738222G> A null W * 97 97 stop gained 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs761260046 20q13.33 20 63738222G> C null W S 97 97 missense 0.813 possibly damaging 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1337021888 20q13.33 20 63738227G> T null E * 99 99 missense 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs532080721 20q13.33 20 63738228A> G null E G 99 99 missense 0.51 possibly damaging 0.13 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs550941462 20q13.33 20 63738231T> G null V G 100 100 missense 0.007 benign 0.58 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs777114203 20q13.33 20 63738230G> A null V M 100 100 missense 0.056 benign 0.08 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1205159363 20q13.33 20 63738233T> C null S P 101 101 missense 0.034 benign 0.18 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs765554112 20q13.33 20 63738237G> T null R M 102 102 missense 0.923 probably damaging 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs765554112 20q13.33 20 63738237G> C null R T 102 102 missense 0.556 possibly damaging 0.02 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1186781537 20q13.33 20 63738239G> A null D N 103 103 missense 0.007 benign 0.15 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs750028003 20q13.33 20 63738248G> A null G R 106 106 missense 0.0 benign 1.0 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ESP,ExAC,TOPMed,gnomAD rs112917590 20q13.33 20 63738252C> T null P L 107 107 missense 0.023 benign 0.74 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs758003940 20q13.33 20 63738251C> T null P S 107 107 missense 0.021 benign 0.46 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs1055096436 20q13.33 20 63738255A> G null Q R 108 108 missense 0.477 possibly damaging 0.55 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs754883646 20q13.33 20 63738260G> A null A T 110 110 missense 0.814 possibly damaging 0.13 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1310391314 20q13.33 20 63738261C> T null A V 110 110 missense 0.135 benign 0.32 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs777505377 20q13.33 20 63738267C> G null S C 112 112 missense 0.1 benign 0.04 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs755870510 20q13.33 20 63738275C> G null P A 115 115 missense 0.255 benign 0.8 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1225554965 20q13.33 20 63738280C> A null H Q 116 116 missense 0.347 benign 0.15 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs1213636546 20q13.33 20 63738281C> T null Q * 117 117 missense 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1269616464 20q13.33 20 63738284G> T null E * 118 118 missense 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1269616464 20q13.33 20 63738284G> A null E K 118 118 missense 0.689 possibly damaging 0.02 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs746088766 20q13.33 20 63738288T> A null L Q 119 119 missense 0.114 benign 0.05 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs890305243 20q13.33 20 63738291C> T null P L 120 120 missense 0.74 possibly damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs890305243 20q13.33 20 63738291C> G null P R 120 120 missense 0.881 possibly damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs1050244088 20q13.33 20 63738290C> T null P S 120 120 missense 0.654 possibly damaging 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201305489 20q13.33 20 63738294G> A null R Q 121 121 3.99E-4 missense 0.003 benign 1.0 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1484561801 20q13.33 20 63738293C> T null R W 121 121 missense 0.0 benign 0.1 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1317761951 20q13.33 20 63738296G> C null A P 122 122 missense 0.005 benign 0.36 tolerated - low confidence 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1371941535 20q13.33 20 63738315C> T null A V 128 128 missense 0.897 possibly damaging 0.53 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs777238936 20q13.33 20 63738321C> A null A E 130 130 missense 0.067 benign 0.13 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1443724901 20q13.33 20 63738323G> C null G R 131 131 missense 0.0 benign 0.54 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs1427542958 20q13.33 20 63738329G> A null A T 133 133 missense 0.0 benign 0.58 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143622346 20q13.33 20 63738330C> T null A V 133 133 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1434456305 20q13.33 20 63738332G> A null G S 134 134 missense 0.023 benign 0.44 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1404822415 20q13.33 20 63738338G> T null E * 136 136 missense 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1280870670 20q13.33 20 63738341G> A null A T 137 137 missense 0.637 possibly damaging 0.06 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs1235772689 20q13.33 20 63738345C> T null T I 138 138 missense 0.51 possibly damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) Ensembl rs1412305318 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 20q13.33 20 63738348A> G null Y C 139 139 missense 0.161 benign 0.03 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1299711053 20q13.33 20 63738355C> G null N K 141 141 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1230783277 20q13.33 20 63738354A> G null N S 141 141 missense 0.391 benign 0.04 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs773510884 20q13.33 20 63738356G> T null V L 142 142 missense 0.836 possibly damaging 0.19 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs773510884 20q13.33 20 63738356G> A null V M 142 142 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1202933133 20q13.33 20 63738365G> A null A T 145 145 missense 0.51 possibly damaging 0.06 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1447056606 20q13.33 20 63738374C> T null P S 148 148 missense 0.34 benign 0.05 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs759004080 cosmic curated [Cosmic]: lung pubmed:23033341,cosmic_study:456 20q13.33 20 63738378G> C null G A 149 149 missense 0.022 benign 0.08 tolerated 1 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1250629279 20q13.33 20 63738377G> A null G R 149 149 missense 0.0 benign 1.0 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs759004080 20q13.33 20 63738378G> T null G V 149 149 missense 0.015 benign 0.04 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1174826606 20q13.33 20 63738384G> A null S N 151 151 missense 0.586 possibly damaging 0.04 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1452173113 20q13.33 20 63738387T> G null L R 152 152 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1158200394 20q13.33 20 63738390C> G null A G 153 153 missense 0.243 benign 0.11 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1158200394 20q13.33 20 63738390C> T null A V 153 153 missense 0.818 possibly damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,gnomAD rs752620750 20q13.33 20 63738396G> T null S I 155 155 missense 0.815 possibly damaging 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs971974937 20q13.33 20 63738399C> T null P L 156 156 missense 0.381 benign 0.05 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs971974937 20q13.33 20 63738399C> G null P R 156 156 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1011286125 20q13.33 20 63738407G> A null A T 159 159 missense 0.044 benign 0.16 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1440008067 20q13.33 20 63738410G> A null E K 160 160 missense 0.977 probably damaging 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1301904063 20q13.33 20 63738414A> G null Y C 161 161 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs756062890 20q13.33 20 63738417C> A null A D 162 162 missense 0.907 possibly damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs756062890 20q13.33 20 63738417C> G null A G 162 162 missense 0.072 benign 0.01 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,TOPMed,gnomAD rs756062890 20q13.33 20 63738417C> T null A V 162 162 missense 0.906 possibly damaging 0.0 deleterious 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1236672895 20q13.33 20 63738419C> T null R C 163 163 missense 0.001 benign 1.0 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1259745537 20q13.33 20 63738420G> A null R H 163 163 missense 0.706 possibly damaging 0.1 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed,gnomAD rs1259745537 20q13.33 20 63738420G> T null R L 163 163 missense 0.167 benign 0.13 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1350886166 20q13.33 20 63738422G> A null V I 164 164 missense 0.006 benign 1.0 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) gnomAD rs1210235433 20q13.33 20 63738425C> T null Q * 165 165 missense 0 A0A087WT57 null Uncharacterized protein (Fragment) ExAC,NCI-TCGA,gnomAD rs777618606 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 20q13.33 20 63738432G> A null R H 167 167 missense 0.001 benign 0.2 tolerated 0 A0A087WT57 null Uncharacterized protein (Fragment) TOPMed rs1404960208 20q13.33 20 63738437G> A null G R 169 169 missense 0.292 benign 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC rs777754220 2q37.1 2 233779375C> T null T I 6 6 missense 0.711 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1353460015 2q37.1 2 233779379A> C null E D 7 7 missense 0.398 benign 0.09 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs746447600 2q37.1 2 233779383G> A null A T 9 9 missense 0.691 possibly damaging 0.22 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1457749430 2q37.1 2 233779386G> A null V I 10 10 missense 0.205 benign 0.51 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs6431631 2q37.1 2 233779390C> A null A D 11 11 0.1707 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs6431631 2q37.1 2 233779390C> T null A V 11 11 0.1707 missense 0.0 benign 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1344395174 2q37.1 2 233779393C> G null S * 12 12 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs749869219 2q37.1 2 233779397T> G null S R 13 13 missense 0.639 possibly damaging 0.15 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559427593 2q37.1 2 233779407T> C null S P 17 17 missense 0.514 possibly damaging 0.3 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs780657719 2q37.1 2 233779414A> G null E G 19 19 missense 0.97 probably damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1222452858 2q37.1 2 233779422G> A null D N 22 22 missense 0.793 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1330393935 2q37.1 2 233779426T> C null L P 23 23 missense 0.007 benign 0.15 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs940152130 2q37.1 2 233779444A> G null H R 29 29 missense 0.003 benign 0.41 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1212727983 2q37.1 2 233779446G> T null D Y 30 30 missense 0.69 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1230829123 2q37.1 2 233779449A> G null S G 31 31 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1455809111 2q37.1 2 233779673A> G null T A 33 33 missense 0.368 benign 0.03 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1273570175 2q37.1 2 233779688G> A null V M 38 38 missense 0.006 benign 0.06 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1184199558 2q37.1 2 233779692A> G null N S 39 39 missense 0.844 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559427986 2q37.1 2 233779704T> A null I N 43 43 missense 0.943 probably damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs376043435 2q37.1 2 233779707T> C null I T 44 44 7.99E-4 missense 0.059 benign 0.01 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs369049742 2q37.1 2 233779706A> G null I V 44 44 missense 0.012 benign 0.09 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs763960649 2q37.1 2 233779715G> A null E K 47 47 missense 0.015 benign 0.04 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs763960649 2q37.1 2 233779715G> C null E Q 47 47 missense 0.426 benign 0.02 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs201099982 2q37.1 2 233779719C> T null S L 48 48 missense 0.472 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs138245177 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.1 2 233779728C> T null T M 51 51 0.004393 missense 0.042 benign 0.12 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1230848180 2q37.1 2 233779731A> G null D G 52 52 missense 0.052 benign 0.1 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1432041339 2q37.1 2 233779733A> G null T A 53 53 missense 0.007 benign 0.6 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1050911638 2q37.1 2 233779734C> T null T I 53 53 missense 0.014 benign 0.14 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1432041339 2q37.1 2 233779733A> C null T P 53 53 missense 0.554 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1050911638 2q37.1 2 233779734C> G null T R 53 53 missense 0.28 benign 0.1 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1322100822 2q37.1 2 233779740G> C null G A 55 55 missense 0.47 possibly damaging 0.04 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs912383890 2q37.1 2 233779739G> A null G R 55 55 missense 0.755 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1437880409 2q37.1 2 233779742G> T null A S 56 56 missense 0.021 benign 0.31 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs201714498 2q37.1 2 233779748C> T null L F 58 58 missense 0.03 benign 0.47 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs201714498 2q37.1 2 233779748C> G null L V 58 58 missense 0.02 benign 0.79 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs745414628 2q37.1 2 233779758G> A null R Q 61 61 missense 0.994 probably damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs558143167 2q37.1 2 233779757C> T null R W 61 61 3.99E-4 missense 0.611 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1342564058 2q37.1 2 233779760A> C null K Q 62 62 missense 0.956 probably damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1287521749 2q37.1 2 233779766C> A null L M 64 64 missense 0.588 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs571606905 2q37.1 2 233779773C> T null S L 66 66 2.0E-4 missense 0.991 probably damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs571606905 2q37.1 2 233779773C> G null S W 66 66 2.0E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1027387250 2q37.1 2 233779775G> T null V L 67 67 missense 0.389 benign 0.01 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1447744536 2q37.1 2 233779778A> G null I V 68 68 missense 0.838 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs748469745 2q37.1 2 233779782T> A null I N 69 69 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs748469745 2q37.1 2 233779782T> C null I T 69 69 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs200069914 2q37.1 2 233779781A> G null I V 69 69 missense 0.998 probably damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs747032873 2q37.1 2 233779786G> A null M I 70 70 missense 0.003 benign 0.14 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1366738100 2q37.1 2 233779788A> G null E G 71 71 missense 0.793 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1161814244 2q37.1 2 233779790A> G null K E 72 72 missense 0.991 probably damaging 0.01 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1161814244 2q37.1 2 233779790A> C null K Q 72 72 missense 0.996 probably damaging 0.01 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs57894674 2q37.1 2 233779793G> A null A T 73 73 0.002396 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs771392266 2q37.1 2 233779794C> T null A V 73 73 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1414907324 2q37.1 2 233779800C> T null T I 75 75 missense 0.007 benign 0.06 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1432306434 2q37.1 2 233779802G> T null E * 76 76 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1334107461 2q37.1 2 233779805C> G null P A 77 77 missense 1.0 probably damaging 0.01 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs575819229 2q37.1 2 233779811G> A null V I 79 79 3.99E-4 missense 0.216 benign 0.07 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1365442098 2q37.1 2 233779815T> C null V A 80 80 missense 0.999 probably damaging 0.01 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs954226221 2q37.1 2 233779818T> C null I T 81 81 missense 0.003 benign 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1282206010 2q37.1 2 233779827T> A null L H 84 84 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs759600650 2q37.1 2 233779831C> G null I M 85 85 missense 0.062 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs781532251 2q37.1 2 233779832C> T null R C 86 86 missense 0.007 benign 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs541647931 2q37.1 2 233779833G> A null R H 86 86 3.99E-4 missense 0.007 benign 0.3 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1300030794 2q37.1 2 233779837C> A null C * 87 87 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1463568143 2q37.1 2 233779835T> C null C R 87 87 missense 0.856 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559428392 2q37.1 2 233779838C> G null L V 88 88 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1160555546 2q37.1 2 233789504C> T null T I 95 95 missense 0.031 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs759580955 2q37.1 2 233789509C> T null R C 97 97 missense 0.493 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs767408226 2q37.1 2 233789510G> A null R H 97 97 missense 0.993 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs755596609 2q37.1 2 233789521A> T null I F 101 101 missense 0.918 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1038946372 2q37.1 2 233789522T> C null I T 101 101 missense 0.793 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes rs576621802 2q37.1 2 233789524T> A null Y N 102 102 2.0E-4 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1396298451 2q37.1 2 233789527A> G null N D 103 103 missense 0.296 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs913421761 2q37.1 2 233789528A> G null N S 103 103 missense 0.021 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs865786743 2q37.1 2 233789533C> T null L F 105 105 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs928864375 2q37.1 2 233789537A> C null Q P 106 106 missense 0.994 probably damaging 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1288935232 2q37.1 2 233789540A> G null D G 107 107 missense 0.001 benign 0.33 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1413985452 cosmic curated [Cosmic]: lung pubmed:22941189,cosmic_study:424 2q37.1 2 233789556G> C null E D 112 112 missense 0.07 benign 0.18 tolerated 1 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1163644452 2q37.1 2 233789558G> C null G A 113 113 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs554748658 2q37.1 2 233789557G> C null G R 113 113 2.0E-4 missense 0.967 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs554748658 2q37.1 2 233789557G> T null G W 113 113 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs574586486 2q37.1 2 233789572C> T null Q * 118 118 2.0E-4 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs574586486 2q37.1 2 233789572C> G null Q E 118 118 2.0E-4 missense 0.003 benign 0.77 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,gnomAD rs191058408 2q37.1 2 233789574G> C null Q H 118 118 2.0E-4 missense 0.005 benign 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs182113274 2q37.1 2 233789577C> G null C W 119 119 3.99E-4 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs908863105 2q37.1 2 233789576G> A null C Y 119 119 missense 0.943 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs778261616 2q37.1 2 233789578G> A null V M 120 120 missense 0.638 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1183469099 2q37.1 2 233789584A> G null R G 122 122 missense 0.29 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1036039952 2q37.1 2 233789588T> G null L R 123 123 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs531954806 2q37.1 2 233789587C> G null L V 123 123 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs771464431 2q37.1 2 233789591T> G null V G 124 124 missense 0.24 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs897660013 2q37.1 2 233789594C> A null A D 125 125 missense 0.37 benign 0.2 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1489672791 2q37.1 2 233789593G> C null A P 125 125 missense 0.722 possibly damaging 0.2 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs897660013 2q37.1 2 233789594C> T null A V 125 125 missense 0.062 benign 0.49 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1333027768 2q37.1 2 233789596A> G null I V 126 126 missense 0.019 benign 0.36 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1376632282 2q37.1 2 233789600C> T null A V 127 127 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1260040190 2q37.1 2 233789627A> G null E G 136 136 missense 0.996 probably damaging 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1387907245 2q37.1 2 233789852A> G null M V 137 137 missense 0.001 benign 0.47 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1035879703 2q37.1 2 233789856A> C null E A 138 138 missense 0.915 probably damaging 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1244799422 2q37.1 2 233789857G> C null E D 138 138 missense 0.105 benign 0.23 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs760194459 2q37.1 2 233789855G> A null E K 138 138 missense 0.887 possibly damaging 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1356133917 2q37.1 2 233789859G> A null G D 139 139 missense 0.042 benign 0.61 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs959096922 2q37.1 2 233789864A> G null M V 141 141 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs974808794 2q37.1 2 233789867A> C null K Q 142 142 missense 0.014 benign 0.55 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs765958001 2q37.1 2 233789870G> C null A P 143 143 missense 0.982 probably damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs765958001 2q37.1 2 233789870G> A null A T 143 143 missense 0.946 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1484312344 2q37.1 2 233789877T> G null V G 145 145 missense 0.296 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1391475182 2q37.1 2 233789882A> C null S R 147 147 missense 0.757 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs754663897 2q37.1 2 233789885G> A null D N 148 148 missense 0.042 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs754663897 2q37.1 2 233789885G> T null D Y 148 148 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs778775020 2q37.1 2 233789889C> T null T I 149 149 missense 0.999 probably damaging 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1229485524 2q37.1 2 233789891C> G null L V 150 150 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1298180561 2q37.1 2 233789894G> T null V L 151 151 missense 0.522 possibly damaging 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559440327 2q37.1 2 233789897G> A null A T 152 152 missense 0.927 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs141152795 2q37.1 2 233789904C> T null S F 154 154 9.98E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs574554926 2q37.1 2 233789906C> T null R * 155 155 2.0E-4 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs574554926 2q37.1 2 233789906C> G null R G 155 155 2.0E-4 missense 0.068 benign 0.47 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1162940902 2q37.1 2 233789907G> C null R P 155 155 missense 0.958 probably damaging 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1162940902 2q37.1 2 233789907G> A null R Q 155 155 missense 0.341 benign 0.45 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs781687395 2q37.1 2 233789914C> G null H Q 157 157 missense 0.997 probably damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs937077307 2q37.1 2 233789915T> C null F L 158 158 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs868005366 2q37.1 2 233789919G> A null S N 159 159 missense 0.047 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1214995043 2q37.1 2 233789924G> T null V F 161 161 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1245734790 2q37.1 2 233789929G> A null M I 162 162 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1421308617 2q37.1 2 233789934A> G null E G 164 164 missense 0.861 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs746390899 2q37.1 2 233789933G> A null E K 164 164 missense 0.861 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1219995684 2q37.1 2 233789951A> G null K E 170 170 missense 0.926 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1421854937 2q37.1 2 233789952A> T null K M 170 170 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs898169607 2q37.1 2 233789954C> T null P S 171 171 missense 1.0 probably damaging 0.56 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs898169607 2q37.1 2 233789954C> A null P T 171 171 missense 1.0 probably damaging 0.86 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1227093106 2q37.1 2 233789957C> T null L F 172 172 missense 0.485 possibly damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1429269175 2q37.1 2 233789962C> A null N K 173 173 missense 0.155 benign 0.4 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1418444544 2q37.1 2 233789961A> G null N S 173 173 missense 0.014 benign 0.38 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1418444544 2q37.1 2 233789961A> C null N T 173 173 missense 0.155 benign 0.33 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1157015348 2q37.1 2 233789964T> C null L P 174 174 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1436016609 2q37.1 2 233789970A> T null D V 176 176 missense 0.918 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs537578655 2q37.1 2 233789976T> C null F S 178 178 2.0E-4 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs930887477 2q37.1 2 233789981A> G null I V 180 180 missense 0.026 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1167285307 2q37.1 2 233789984A> G null I V 181 181 missense 0.005 benign 0.6 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1331577837 2q37.1 2 233790009G> A null G D 189 189 missense 0.751 possibly damaging 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs749423838 2q37.1 2 233790008G> A null G S 189 189 missense 0.062 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1199365371 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.1 2 233790014G> A null V M 191 191 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1318076470 2q37.1 2 233792805T> A null F Y 194 194 missense 0.996 probably damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1399113301 2q37.1 2 233792807A> T null M L 195 195 missense 0.037 benign 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1393170464 2q37.1 2 233792810C> T null P S 196 196 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs949347662 2q37.1 2 233792818G> A null M I 198 198 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs982074619 2q37.1 2 233792820G> C null G A 199 199 missense 1.0 probably damaging 0.97 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1470501193 2q37.1 2 233792819G> T null G C 199 199 missense 1.0 probably damaging 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs982074619 2q37.1 2 233792820G> A null G D 199 199 missense 1.0 probably damaging 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs903871838 2q37.1 2 233792822A> G null I V 200 200 missense 0.212 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1453158700 2q37.1 2 233792825A> G null T A 201 201 missense 0.948 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs926742217 2q37.1 2 233792832C> A null A D 203 203 missense 0.982 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1190421658 2q37.1 2 233792838T> C null I T 205 205 missense 0.672 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1423238189 2q37.1 2 233792837A> G null I V 205 205 missense 0.042 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1432756156 2q37.1 2 233792844C> T null T I 207 207 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1241238812 2q37.1 2 233792847T> G null M R 208 208 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs57674070 2q37.1 2 233792846A> G null M V 208 208 0.05871 missense 0.841 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1377597361 2q37.1 2 233792849C> G null L V 209 209 missense 0.992 probably damaging 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1269131113 2q37.1 2 233792864G> A null E K 214 214 missense 0.154 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1428252439 2q37.1 2 233792870A> G null K E 216 216 missense 0.986 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs757600100 2q37.1 2 233792872G> T null K N 216 216 missense 0.971 probably damaging 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1307854642 2q37.1 2 233792871A> G null K R 216 216 missense 0.82 possibly damaging 0.42 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs767739257 2q37.1 2 233792876C> T null R C 218 218 missense 0.537 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs750846190 2q37.1 2 233792877G> A null R H 218 218 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs750846190 2q37.1 2 233792877G> T null R L 218 218 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs767739257 2q37.1 2 233792876C> A null R S 218 218 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs541544695 2q37.1 2 233792882G> A null A T 220 220 missense 0.147 benign 0.41 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs868460242 2q37.1 2 233792883C> T null A V 220 220 missense 0.007 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1273717316 2q37.1 2 233792894G> A null A T 224 224 missense 0.873 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs746888454 2q37.1 2 233793676T> C null M T 225 225 missense 0.03 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs529610939 2q37.1 2 233793675A> G null M V 225 225 2.0E-4 missense 0.012 benign 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs770925502 2q37.1 2 233793682C> A null T N 227 227 missense 0.947 probably damaging 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1490443689 2q37.1 2 233793687T> C null C R 229 229 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1476606287 2q37.1 2 233793694C> A null T K 231 231 missense 0.743 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1476606287 2q37.1 2 233793694C> T null T M 231 231 missense 0.255 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1029791936 2q37.1 2 233793693A> C null T P 231 231 missense 0.892 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs746482748 2q37.1 2 233793696G> A null V M 232 232 missense 0.911 probably damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs190909927 2q37.1 2 233793700A> G null Q R 233 233 0.002796 missense 0.042 benign 0.46 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs957663321 2q37.1 2 233793707T> A null Y * 235 235 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1433286692 2q37.1 2 233793712A> G null K R 237 237 missense 0.007 benign 0.97 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs956889760 2q37.1 2 233793717C> G null L V 239 239 missense 0.487 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs990780476 2q37.1 2 233793725G> C null E D 241 241 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs559770121 2q37.1 2 233793728C> A null S R 242 242 2.0E-4 missense 0.999 probably damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1423877202 2q37.1 2 233793730T> A null V E 243 243 missense 0.578 possibly damaging 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs764869388 2q37.1 2 233793729G> A null V M 243 243 missense 0.14 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1411580518 2q37.1 2 233793732T> C null Y H 244 244 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes rs532075207 2q37.1 2 233793735C> T null P S 245 245 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs142321197 2q37.1 2 233793738G> A null V M 246 246 0.002796 missense 0.985 probably damaging 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs762488105 2q37.1 2 233793743G> A null M I 247 247 missense 0.631 possibly damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1334057734 2q37.1 2 233793744A> G null T A 248 248 missense 0.154 benign 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1334057734 2q37.1 2 233793744A> C null T P 248 248 missense 0.958 probably damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1275058572 2q37.1 2 233793751A> C null E A 250 250 missense 0.637 possibly damaging 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs763863139 2q37.1 2 233793760C> A null A D 253 253 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs750744499 2q37.1 2 233793765A> G null K E 255 255 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs199607167 2q37.1 2 233793769T> C null V A 256 256 missense 0.062 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1449003535 2q37.1 2 233793768G> A null V M 256 256 missense 0.188 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs937080126 2q37.1 2 233793778T> A null M K 259 259 missense 0.473 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs937080126 2q37.1 2 233793778T> C null M T 259 259 missense 0.028 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs928423700 2q37.1 2 233793777A> G null M V 259 259 missense 0.011 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs766826150 2q37.1 2 233793783C> T null R C 261 261 missense 0.047 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs531831808 2q37.1 2 233793784G> A null R H 261 261 2.0E-4 missense 0.029 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs531831808 2q37.1 2 233793784G> C null R P 261 261 2.0E-4 missense 0.789 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs766826150 2q37.1 2 233793783C> A null R S 261 261 missense 0.36 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs754378127 2q37.1 2 233793792G> A null V M 264 264 missense 0.488 possibly damaging 0.83 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1402146880 2q37.1 2 233793803G> A null W * 267 267 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs182906572 2q37.1 2 233793804C> A null L M 268 268 missense 0.685 possibly damaging 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1354588699 2q37.1 2 233793808G> A null R K 269 269 missense 0.042 benign 0.63 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs867619926 2q37.1 2 233793810C> T null H Y 270 270 missense 0.392 benign 0.36 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1500481 2q37.1 2 233793813T> C null Y H 271 271 0.373 missense 0.0 benign 0.25 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs758544491 2q37.1 2 233793816A> G null N D 272 272 missense 0.026 benign 0.28 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs897736745 2q37.1 2 233793818C> G null N K 272 272 missense 0.554 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs568668362 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.1 2 233793822G> A null E K 274 274 2.0E-4 missense 0.901 possibly damaging 0.16 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs113039288 2q37.1 2 233794364T> C null V A 275 275 2.0E-4 missense 0.998 probably damaging 0.16 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs908987859 2q37.1 2 233794363G> A null V M 275 275 missense 1.0 probably damaging 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1456841453 2q37.1 2 233794370T> C null L P 277 277 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1477594738 2q37.1 2 233794376T> C null V A 279 279 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs141259399 2q37.1 2 233794375G> T null V L 279 279 7.99E-4 missense 0.885 possibly damaging 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs141259399 2q37.1 2 233794375G> A null V M 279 279 7.99E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1250546107 2q37.1 2 233794379T> C null I T 280 280 missense 0.263 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1191318688 2q37.1 2 233794382A> T null K M 281 281 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1201929075 2q37.1 2 233794385C> G null S C 282 282 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1266847679 2q37.1 2 233794394C> T null P L 285 285 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1454487662 2q37.1 2 233794397T> G null M R 286 286 missense 0.958 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs760024330 2q37.1 2 233794396A> G null M V 286 286 missense 0.392 benign 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559447439 2q37.1 2 233794403G> A null G D 288 288 missense 0.039 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs752653076 2q37.1 2 233794402G> A null G S 288 288 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1051647630 2q37.1 2 233794409T> A null L H 290 290 missense 0.632 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs574452730 2q37.1 2 233794418A> G null N S 293 293 3.99E-4 missense 0.021 benign 0.39 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1325359858 2q37.1 2 233794420G> A null D N 294 294 missense 0.011 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs942735536 2q37.1 2 233794425C> A null D E 295 295 missense 0.047 benign 0.16 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1371988470 2q37.1 2 233794424A> G null D G 295 295 missense 0.699 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1385546999 2q37.1 2 233794427T> A null L Q 296 296 missense 0.99 probably damaging 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs974518197 2q37.1 2 233794429C> G null R G 297 297 missense 0.843 possibly damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs925652746 2q37.1 2 233794430G> A null R Q 297 297 missense 0.397 benign 0.35 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs974518197 2q37.1 2 233794429C> T null R W 297 297 missense 0.985 probably damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1178847525 2q37.1 2 233794437G> C null Q H 299 299 missense 0.971 probably damaging 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1253628128 2q37.1 2 233794435C> A null Q K 299 299 missense 0.789 possibly damaging 0.31 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1354913035 2q37.1 2 233794438G> T null V F 300 300 missense 0.903 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1468591306 2q37.1 2 233794446C> G null D E 302 302 missense 0.993 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1251907732 2q37.1 2 233794444G> A null D N 302 302 missense 0.996 probably damaging 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1251907732 2q37.1 2 233794444G> T null D Y 302 302 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs781111015 2q37.1 2 233794448A> G null Y C 303 303 missense 0.999 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs757592602 2q37.1 2 233794447T> C null Y H 303 303 missense 0.997 probably damaging 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1238683857 2q37.1 2 233794453C> G null P A 305 305 missense 0.967 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs575742221 2q37.1 2 233794454C> T null P L 305 305 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs575742221 2q37.1 2 233794454C> G null P R 305 305 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1456385240 2q37.1 2 233794460T> G null L R 307 307 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs533821426 2q37.1 2 233794466C> T null A V 309 309 2.0E-4 missense 0.999 probably damaging 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1443307468 2q37.1 2 233794474C> T null Q * 312 312 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1253702078 2q37.1 2 233794477G> C null G R 313 313 missense 0.943 probably damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1176356326 2q37.1 2 233795625C> A null H Q 316 316 missense 0.017 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1193030969 2q37.1 2 233795623C> T null H Y 316 316 missense 0.011 benign 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs77818467 2q37.1 2 233795630C> T null P L 318 318 0.02137 missense 0.0 benign 0.45 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1377447743 2q37.1 2 233795633C> T null P L 319 319 missense 0.0 benign 0.82 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs117382176 2q37.1 2 233795632C> A null P T 319 319 3.99E-4 missense 0.017 benign 0.41 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1294472027 2q37.1 2 233795636T> G null F C 320 320 missense 0.018 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1334672312 2q37.1 2 233795639C> G null A G 321 321 missense 0.001 benign 0.3 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1357956638 2q37.1 2 233795638G> A null A T 321 321 missense 0.0 benign 0.95 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1234563264 2q37.1 2 233795644C> G null P A 323 323 missense 0.911 probably damaging 0.44 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1304301727 2q37.1 2 233795645C> T null P L 323 323 missense 0.96 probably damaging 0.35 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs894202451 2q37.1 2 233795651A> G null Q R 325 325 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559449056 2q37.1 2 233795654T> A null V D 326 326 missense 0.939 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1484582172 2q37.1 2 233795662C> A null Q K 329 329 missense 0.883 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1026588285 2q37.1 2 233795668C> A null L M 331 331 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1210024402 2q37.1 2 233795669T> C null L P 331 331 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs2361503 2q37.1 2 233795672A> G null E G 332 332 0.3472 missense 0.998 probably damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1476174929 2q37.1 2 233795671G> A null E K 332 332 missense 0.995 probably damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs2361503 2q37.1 2 233795672A> T null E V 332 332 0.3472 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs935200179 2q37.1 2 233795693C> G null T S 339 339 missense 0.125 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1313919930 2q37.1 2 233795695C> T null P S 340 340 missense 0.998 probably damaging 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs762901126 2q37.1 2 233795702C> G null P R 342 342 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559449234 2q37.1 2 233795704C> T null Q * 343 343 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs764201426 2q37.1 2 233795719A> G null T A 348 348 missense 0.193 benign 0.22 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1468264096 2q37.1 2 233795720C> T null T I 348 348 missense 0.892 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs922107789 2q37.1 2 233795728A> G null T A 351 351 missense 0.031 benign 0.22 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs751737064 2q37.1 2 233795729C> T null T I 351 351 missense 0.072 benign 0.52 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs749728843 2q37.1 2 233795740G> A null V I 355 355 missense 0.003 benign 0.43 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs967875828 2q37.1 2 233795967G> T null V L 357 357 missense 0.695 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs967875828 2q37.1 2 233795967G> A null V M 357 357 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1246434637 2q37.1 2 233795971G> A null C Y 358 358 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1332502081 2q37.1 2 233795975C> A null N K 359 359 missense 0.102 benign 0.23 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs977422004 2q37.1 2 233795974A> G null N S 359 359 missense 0.003 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1019130190 2q37.1 2 233795980C> A null A D 361 361 missense 0.845 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs200513254 2q37.1 2 233795979G> T null A S 361 361 missense 0.19 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs200513254 2q37.1 2 233795979G> A null A T 361 361 missense 0.125 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1019130190 2q37.1 2 233795980C> T null A V 361 361 missense 0.076 benign 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs771645517 2q37.1 2 233795983C> T null P L 362 362 missense 0.889 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs966570823 2q37.1 2 233795982C> T null P S 362 362 missense 0.341 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559449712 2q37.1 2 233795986C> A null A D 363 363 missense 0.072 benign 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1334293235 2q37.1 2 233795993T> A null H Q 365 365 missense 0.003 benign 0.88 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs938595519 2q37.1 2 233795994C> T null Q * 366 366 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1168880228 2q37.1 2 233795995A> C null Q P 366 366 missense 0.938 probably damaging 0.2 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs575561735 2q37.1 2 233795999C> G null Y * 367 367 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs915734383 2q37.1 2 233796004G> A null S N 369 369 missense 0.042 benign 0.25 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1192906510 2q37.1 2 233796007A> G null Q R 370 370 missense 0.045 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1485519359 2q37.1 2 233796009A> G null N D 371 371 missense 0.324 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1223466263 2q37.1 2 233796015A> G null M V 373 373 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1186450304 2q37.1 2 233796019A> C null E A 374 374 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1476637580 2q37.1 2 233796018G> A null E K 374 374 missense 0.927 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1414967650 2q37.1 2 233796021A> G null M V 375 375 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1329096069 2q37.1 2 233796024G> A null V M 376 376 missense 0.374 benign 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1165073173 2q37.1 2 233796028A> G null H R 377 377 missense 0.045 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1398654920 2q37.1 2 233796031G> T null C F 378 378 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs775756590 2q37.1 2 233796036G> A null V I 380 380 missense 0.0 benign 0.76 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs148598250 2q37.1 2 233796040C> A null A D 381 381 0.001797 missense 0.917 probably damaging 0.2 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1029693114 2q37.1 2 233796039G> A null A T 381 381 missense 0.88 possibly damaging 0.36 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1291400902 2q37.1 2 233796043T> A null L H 382 382 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs559303665 2q37.1 2 233796045G> A null A T 383 383 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs536790313 2q37.1 2 233796202C> T null R C 384 384 2.0E-4 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs557519740 2q37.1 2 233796203G> A null R H 384 384 3.99E-4 missense 0.246 benign 0.76 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs536790313 2q37.1 2 233796202C> A null R S 384 384 2.0E-4 missense 0.861 possibly damaging 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1394256581 2q37.1 2 233796206C> T null S F 385 385 missense 0.588 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1180624332 2q37.1 2 233796208T> C null Y H 386 386 missense 0.656 possibly damaging 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs749678430 2q37.1 2 233796211C> G null P A 387 387 missense 0.968 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs769215802 2q37.1 2 233796217G> T null E * 389 389 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs775010542 2q37.1 2 233796218A> C null E A 389 389 missense 0.873 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs775010542 2q37.1 2 233796218A> G null E G 389 389 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs769215802 2q37.1 2 233796217G> A null E K 389 389 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs775010542 2q37.1 2 233796218A> T null E V 389 389 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs761932721 2q37.1 2 233796221T> A null L Q 390 390 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1416985560 2q37.1 2 233796228G> T null K N 392 392 missense 0.137 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1379386635 2q37.1 2 233796227A> C null K T 392 392 missense 0.81 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1303056684 2q37.1 2 233796232T> C null F L 394 394 missense 0.324 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1236023884 2q37.1 2 233796241C> G null Q E 397 397 missense 0.935 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1250098372 2q37.1 2 233796242A> G null Q R 397 397 missense 0.914 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1339368412 2q37.1 2 233796246G> A null M I 398 398 missense 0.019 benign 0.46 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1257877432 2q37.1 2 233796244A> G null M V 398 398 missense 0.019 benign 0.3 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1458768804 2q37.1 2 233796254A> T null N I 401 401 missense 0.108 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1297132276 2q37.1 2 233796256A> G null K E 402 402 missense 0.263 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs939767569 2q37.1 2 233796261G> C null E D 403 403 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1433522158 2q37.1 2 233796263C> G null A G 404 404 missense 0.062 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1252096436 2q37.1 2 233796262G> A null A T 404 404 missense 0.255 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1461480412 2q37.1 2 233796266T> C null V A 405 405 missense 0.039 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs773216265 2q37.1 2 233796265G> A null V I 405 405 missense 0.001 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs773216265 2q37.1 2 233796265G> C null V L 405 405 missense 0.003 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs931225051 2q37.1 2 233796268C> T null R C 406 406 missense 0.109 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs932267372 2q37.1 2 233796269G> A null R H 406 406 missense 0.157 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs932267372 2q37.1 2 233796269G> T null R L 406 406 missense 0.109 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs908456415 2q37.1 2 233796271G> A null V M 407 407 missense 0.849 possibly damaging 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs766581127 2q37.1 2 233796275G> A null G E 408 408 missense 0.95 probably damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs760943208 2q37.1 2 233796274G> A null G R 408 408 missense 0.5 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs762124637 2q37.1 2 233796281T> C null L P 410 410 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs932061701 2q37.1 2 233796285T> A null N K 411 411 missense 0.102 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1319416374 2q37.1 2 233796290T> C null I T 413 413 missense 0.916 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs753603060 2q37.1 2 233796289A> G null I V 413 413 missense 0.617 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1211394847 2q37.1 2 233796293G> A null R K 414 414 missense 0.109 benign 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1488635906 2q37.1 2 233796295G> T null A S 415 415 missense 0.263 benign 0.69 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1488635906 2q37.1 2 233796295G> A null A T 415 415 missense 0.158 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1192702563 2q37.1 2 233796299T> A null I K 416 416 missense 0.652 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1192702563 2q37.1 2 233796299T> C null I T 416 416 missense 0.216 benign 0.16 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs889345395 2q37.1 2 233796302T> C null V A 417 417 missense 0.849 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1427786594 2q37.1 2 233796305G> T null S I 418 418 missense 0.882 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1194326196 2q37.1 2 233796306C> A null S R 418 418 missense 0.845 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1051046980 2q37.1 2 233796307G> T null A S 419 419 missense 0.955 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1051046980 2q37.1 2 233796307G> A null A T 419 419 missense 0.662 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1474250619 2q37.1 2 233796311A> G null D G 420 420 missense 0.47 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1228105839 2q37.1 2 233798780G> C null R T 423 423 missense 0.373 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1363545984 2q37.1 2 233798784G> A null M I 424 424 missense 0.02 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1157225956 2q37.1 2 233798783T> A null M K 424 424 missense 0.37 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1193382695 2q37.1 2 233798795C> G null A G 428 428 missense 0.138 benign 0.22 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1381120838 2q37.1 2 233798794G> A null A T 428 428 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1374168762 2q37.1 2 233798797A> T null I F 429 429 missense 0.109 benign 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1374168762 2q37.1 2 233798797A> G null I V 429 429 missense 0.027 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs369781271 2q37.1 2 233798804T> A null L Q 431 431 0.001398 missense 0.938 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1311679128 2q37.1 2 233798803C> G null L V 431 431 missense 0.392 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559453162 2q37.1 2 233798807C> T null A V 432 432 missense 0.869 possibly damaging 0.47 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1287138342 2q37.1 2 233798810T> C null I T 433 433 missense 0.076 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs779519683 2q37.1 2 233798813G> C null R P 434 434 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs779519683 2q37.1 2 233798813G> A null R Q 434 434 missense 0.854 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs941367297 2q37.1 2 233798812C> T null R W 434 434 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes rs548925444 2q37.1 2 233798819T> C null V A 436 436 2.0E-4 missense 0.606 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1184402901 2q37.1 2 233798818G> A null V I 436 436 missense 0.485 possibly damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559453236 2q37.1 2 233798822A> G null K R 437 437 missense 0.109 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1287984161 2q37.1 2 233798824A> G null N D 438 438 missense 0.37 benign 0.2 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1345568085 2q37.1 2 233798826C> G null N K 438 438 missense 0.37 benign 0.29 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs186122485 2q37.1 2 233798831T> A null I N 440 440 0.002196 missense 0.363 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes rs568433675 2q37.1 2 233798830A> G null I V 440 440 2.0E-4 missense 0.0 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1051704876 2q37.1 2 233798833T> G null S A 441 441 missense 0.052 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1051704876 2q37.1 2 233798833T> C null S P 441 441 missense 0.856 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1238077180 2q37.1 2 233798840C> A null T N 443 443 missense 0.03 benign 0.31 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs760679521 2q37.1 2 233798842C> G null R G 444 444 missense 0.391 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs771127390 2q37.1 2 233798843G> T null R L 444 444 missense 0.045 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs771127390 2q37.1 2 233798843G> C null R P 444 444 missense 0.856 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs771127390 2q37.1 2 233798843G> A null R Q 444 444 missense 0.199 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs760679521 2q37.1 2 233798842C> T null R W 444 444 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs576634340 2q37.1 2 233798846C> A null S Y 445 445 missense 0.391 benign 0.63 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1393671615 2q37.1 2 233798848A> G null K E 446 446 missense 0.47 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1416725213 2q37.1 2 233799785G> T null R S 448 448 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1427854502 2q37.1 2 233799786A> T null M L 449 449 missense 0.038 benign 0.31 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1408785525 2q37.1 2 233799789G> T null A S 450 450 missense 0.975 probably damaging 0.5 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs751011124 2q37.1 2 233799792A> G null I V 451 451 missense 0.026 benign 0.32 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs906599010 2q37.1 2 233799799A> G null H R 453 453 missense 0.0 benign 0.8 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1465778854 2q37.1 2 233799798C> T null H Y 453 453 missense 0.001 benign 0.99 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1332993116 2q37.1 2 233799801A> G null I V 454 454 missense 0.062 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs938115666 2q37.1 2 233799804A> T null I F 455 455 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs780846243 2q37.1 2 233799805T> C null I T 455 455 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1369555027 2q37.1 2 233799808G> C null G A 456 456 missense 0.844 possibly damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1212747216 2q37.1 2 233799811A> G null Q R 457 457 missense 0.92 probably damaging 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs533386724 2q37.1 2 233799822T> C null C R 461 461 2.0E-4 missense 0.003 benign 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs779410298 2q37.1 2 233799830C> A null Y * 463 463 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs948361814 2q37.1 2 233799829A> G null Y C 463 463 missense 0.097 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1468248896 2q37.1 2 233799832A> G null Q R 464 464 missense 0.95 probably damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,gnomAD rs549972922 2q37.1 2 233799834G> A null E K 465 465 2.0E-4 missense 0.699 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,gnomAD rs549972922 2q37.1 2 233799834G> C null E Q 465 465 2.0E-4 missense 0.881 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1282638629 2q37.1 2 233799838G> A null R K 466 466 missense 0.012 benign 0.88 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs563451261 2q37.1 2 233799840A> G null I V 467 467 2.0E-4 missense 0.026 benign 0.5 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1248826582 2q37.1 2 233799843A> G null K E 468 468 missense 0.077 benign 0.96 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1037495875 2q37.1 2 233799847G> C null G A 469 469 missense 0.529 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1186469280 2q37.1 2 233799849T> C null W R 470 470 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1422241677 2q37.1 2 233799853G> A null G D 471 471 missense 0.974 probably damaging 0.38 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs376467112 2q37.1 2 233799862A> G null Y C 474 474 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,gnomAD rs531360092 2q37.1 2 233799873C> T null Q * 478 478 2.0E-4 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs993372815 2q37.1 2 233799880C> T null T I 480 480 missense 0.624 possibly damaging 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1168426883 2q37.1 2 233799886C> T null S F 482 482 missense 0.883 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1261379571 2q37.1 2 233799885T> C null S P 482 482 missense 0.802 possibly damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1351422793 2q37.1 2 233799894A> G null K E 485 485 missense 0.567 possibly damaging 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs551802159 2q37.1 2 233799898T> C null L P 486 486 missense 0.611 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1239864067 2q37.1 2 233800206C> T null T I 487 487 missense 0.339 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1239864067 2q37.1 2 233800206C> A null T K 487 487 missense 0.464 possibly damaging 0.5 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs867511801 2q37.1 2 233800211C> T null R C 489 489 missense 0.003 benign 0.26 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs766903289 2q37.1 2 233800212G> A null R H 489 489 missense 0.003 benign 0.69 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs766903289 2q37.1 2 233800212G> T null R L 489 489 missense 0.092 benign 0.74 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs867511801 2q37.1 2 233800211C> A null R S 489 489 missense 0.026 benign 0.58 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs374491569 2q37.1 2 233800215G> A null R Q 490 490 3.99E-4 missense 0.09 benign 0.25 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs146454095 2q37.1 2 233800214C> T null R W 490 490 3.99E-4 missense 0.07 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1031748431 2q37.1 2 233800219G> C null E D 491 491 missense 0.003 benign 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs11563246 2q37.1 2 233800222G> C null K N 492 492 0.25 missense 0.0 benign 0.86 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs960525073 2q37.1 2 233800221A> G null K R 492 492 missense 0.024 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1382107095 2q37.1 2 233800227A> G null Y C 494 494 missense 0.005 benign 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1382107095 2q37.1 2 233800227A> T null Y F 494 494 missense 0.015 benign 0.55 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs188599854 2q37.1 2 233800233G> A null R K 496 496 0.001997 missense 0.018 benign 0.27 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs758857468 2q37.1 2 233800234G> C null R S 496 496 missense 0.383 benign 0.2 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs866546938 2q37.1 2 233800236A> G null D G 497 497 missense 0.079 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1421389645 2q37.1 2 233800235G> T null D Y 497 497 missense 0.968 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1425760048 2q37.1 2 233800241G> C null E Q 499 499 missense 0.98 probably damaging 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs777831053 2q37.1 2 233800244G> T null E * 500 500 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs769592253 2q37.1 2 233800246G> C null E D 500 500 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1171720009 2q37.1 2 233800249G> T null R S 501 501 missense 0.155 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1171720009 2q37.1 2 233800249G> C null R S 501 501 missense 0.155 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1281909416 2q37.1 2 233800254T> C null V A 503 503 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1401463013 2q37.1 2 233800253G> A null V I 503 503 missense 0.921 probably damaging 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs140951259 2q37.1 2 233800257A> T null H L 504 504 0.01138 missense 0.791 possibly damaging 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs549101862 2q37.1 2 233800260A> G null K R 505 505 0.001398 missense 0.031 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1446335672 2q37.1 2 233800262G> T null V F 506 506 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1310382809 2q37.1 2 233800266C> T null T I 507 507 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs113399370 2q37.1 2 233800269T> C null M T 508 508 0.006589 missense 0.719 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs929077964 2q37.1 2 233800268A> G null M V 508 508 missense 0.082 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1161053171 2q37.1 2 233800272A> G null D G 509 509 missense 0.608 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1250207023 2q37.1 2 233800277G> A null V M 511 511 missense 0.841 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs746013701 2q37.1 2 233800280A> G null K E 512 512 missense 0.092 benign 0.23 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1200527917 2q37.1 2 233800286A> G null I V 514 514 missense 0.522 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1038828435 2q37.1 2 233800293C> T null S F 516 516 missense 0.103 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1177651767 2q37.1 2 233800292T> A null S T 516 516 missense 0.276 benign 0.54 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs991402328 2q37.1 2 233800296C> G null S C 517 517 missense 0.971 probably damaging 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1191573134 2q37.1 2 233800299T> A null V D 518 518 missense 0.958 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1376990050 2q37.1 2 233800304G> T null G W 520 520 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs900447726 2q37.1 2 233800308T> C null M T 521 521 missense 0.021 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1270955616 2q37.1 2 233800311C> G null T S 522 522 missense 0.031 benign 0.52 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1211463183 2q37.1 2 233802169A> C null E A 524 524 missense 0.894 possibly damaging 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1052108247 2q37.1 2 233802175G> A null W * 526 526 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1052108247 2q37.1 2 233802175G> T null W L 526 526 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1260915260 2q37.1 2 233802177G> A null V M 527 527 missense 0.255 benign 0.22 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1194394000 2q37.1 2 233802181G> A null R K 528 528 missense 0.289 benign 0.25 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1194394000 2q37.1 2 233802181G> T null R M 528 528 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs949032095 2q37.1 2 233802195A> T null I F 533 533 missense 0.918 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs949032095 2q37.1 2 233802195A> G null I V 533 533 missense 0.047 benign 0.99 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1369311997 2q37.1 2 233802198A> T null M L 534 534 missense 0.392 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1369311997 2q37.1 2 233802198A> G null M V 534 534 missense 0.076 benign 0.98 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1203956334 2q37.1 2 233802203G> T null E D 535 535 missense 0.62 possibly damaging 0.29 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1046204913 2q37.1 2 233802204A> G null T A 536 536 missense 0.966 probably damaging 0.53 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes rs182590741 2q37.1 2 233802209C> G null D E 537 537 2.0E-4 missense 0.031 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1401150632 2q37.1 2 233802208A> G null D G 537 537 missense 0.608 possibly damaging 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs771813961 2q37.1 2 233802213G> A null V M 539 539 missense 0.0 benign 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs961102902 2q37.1 2 233802219G> C null A P 541 541 missense 0.802 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs185864352 2q37.1 2 233802226C> T null T I 543 543 0.001398 missense 0.308 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1004504347 2q37.1 2 233802228C> T null P S 544 544 missense 0.072 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1015503829 2q37.1 2 233802231A> G null I V 545 545 missense 0.046 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs201151796 2q37.1 2 233802246A> G null T A 550 550 missense 0.023 benign 0.37 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1352818586 2q37.1 2 233802252C> A null L M 552 552 missense 1.0 probably damaging 0.35 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1217274283 2q37.1 2 233802256C> T null A V 553 553 missense 0.139 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs772734158 2q37.1 2 233802263C> G null H Q 555 555 missense 0.003 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs772734158 2q37.1 2 233802263C> A null H Q 555 555 missense 0.003 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1358348270 2q37.1 2 233802262A> G null H R 555 555 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1029327533 2q37.1 2 233802265A> C null Q P 556 556 missense 0.848 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1482301162 2q37.1 2 233802274G> A null G D 559 559 missense 0.005 benign 0.26 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs535612531 2q37.1 2 233802281T> A null D E 561 561 missense 0.026 benign 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1257109900 2q37.1 2 233802282G> T null V L 562 562 missense 0.0 benign 0.28 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1425851599 2q37.1 2 233802286A> C null D A 563 563 missense 0.005 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1425851599 2q37.1 2 233802286A> T null D V 563 563 missense 0.102 benign 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs953434330 2q37.1 2 233802294G> A null V M 566 566 missense 0.005 benign 0.36 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1160937659 2q37.1 2 233802298C> A null A D 567 567 missense 0.426 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs986277935 2q37.1 2 233802308C> G null S R 570 570 missense 0.02 benign 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1357975579 2q37.1 2 233802309A> G null R G 571 571 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1186806736 2q37.1 2 233802310G> A null R K 571 571 missense 0.0 benign 0.93 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1472771520 2q37.1 2 233802312C> A null Q K 572 572 missense 0.024 benign 0.4 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs925401831 2q37.1 2 233802315G> A null V M 573 573 missense 0.365 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs368567438 2q37.1 2 233803450G> A null D N 574 574 missense 0.085 benign 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1399159779 2q37.1 2 233803457C> T null P L 576 576 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs28900438 2q37.1 2 233803460C> A null A E 577 577 0.001198 missense 0.85 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs28900438 2q37.1 2 233803460C> T null A V 577 577 0.001198 missense 0.85 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs150695023 2q37.1 2 233803463C> A null P H 578 578 0.001398 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs573043055 2q37.1 2 233803467G> C null Q H 579 579 2.0E-4 missense 0.341 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1399461980 2q37.1 2 233803466A> C null Q P 579 579 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs778808043 2q37.1 2 233803480C> T null R C 584 584 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs182734868 2q37.1 2 233803481G> A null R H 584 584 3.99E-4 missense 0.56 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs182734868 2q37.1 2 233803481G> T null R L 584 584 3.99E-4 missense 0.901 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs182734868 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue pubmed:24145436,cosmic_study:549 2q37.1 2 233803481G> C null R P 584 584 3.99E-4 missense 0.982 probably damaging 0.0 deleterious 1 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1373332907 2q37.1 2 233804055T> C null L P 588 588 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs927913545 2q37.1 2 233804059G> A null M I 589 589 missense 0.051 benign 0.46 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs927913545 2q37.1 2 233804059G> T null M I 589 589 missense 0.051 benign 0.46 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1165296369 2q37.1 2 233804075G> C null G R 595 595 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1398082779 2q37.1 2 233804081G> A null G S 597 597 missense 0.979 probably damaging 0.59 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1254370135 2q37.1 2 233804082G> T null G V 597 597 missense 0.991 probably damaging 0.26 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs868639543 2q37.1 2 233804084C> T null R C 598 598 missense 0.965 probably damaging 0.23 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1297602898 2q37.1 2 233804085G> A null R H 598 598 missense 0.987 probably damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs868639543 2q37.1 2 233804084C> A null R S 598 598 missense 0.994 probably damaging 0.14 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1055254580 2q37.1 2 233804098G> T null M I 602 602 missense 0.076 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,gnomAD rs552874312 2q37.1 2 233804099C> T null L F 603 603 7.99E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1038921424 2q37.1 2 233804118T> G null L R 609 609 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1352077775 2q37.1 2 233804129A> C null I L 613 613 missense 0.655 possibly damaging 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs776274883 2q37.1 2 233804132G> A null A T 614 614 missense 0.554 possibly damaging 0.37 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1194768049 2q37.1 2 233804136C> T null P L 615 615 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1488316037 2q37.1 2 233804135C> A null P T 615 615 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1441530044 2q37.1 2 233804141A> T null M L 617 617 missense 0.027 benign 0.93 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1235375805 2q37.1 2 233804145C> A null A D 618 618 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs759088675 2q37.1 2 233804147G> A null D N 619 619 missense 0.011 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1008623872 2q37.1 2 233804152G> A null M I 620 620 missense 0.007 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1392969822 2q37.1 2 233804150A> G null M V 620 620 missense 0.007 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1297209032 2q37.1 2 233804163A> T null E V 624 624 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1386883130 2q37.1 2 233804165A> T null I F 625 625 missense 0.992 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs191965235 2q37.1 2 233804169C> A null A E 626 626 5.99E-4 missense 0.001 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs191965235 2q37.1 2 233804169C> T null A V 626 626 5.99E-4 missense 0.003 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1340027594 2q37.1 2 233804177G> T null V F 629 629 missense 0.891 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs754762706 2q37.1 2 233804181G> A null R Q 630 630 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs116198011 2q37.1 2 233804180C> T null R W 630 630 0.001198 missense 0.535 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1195389017 2q37.1 2 233804185C> A null Y * 631 631 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1251699349 2q37.1 2 233804183T> A null Y N 631 631 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1272531036 2q37.1 2 233804498A> C null H P 635 635 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1272531036 2q37.1 2 233804498A> G null H R 635 635 missense 0.978 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1039751702 2q37.1 2 233804510C> G null T S 639 639 missense 0.693 possibly damaging 0.23 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs61650568 2q37.1 2 233804527T> G null W G 645 645 0.01158 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1348522250 2q37.1 2 233804533G> A null D N 647 647 missense 0.916 probably damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1011705394 2q37.1 2 233804537A> G null K R 648 648 missense 0.588 possibly damaging 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs749792806 2q37.1 2 233804545C> G null Q E 651 651 missense 0.068 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs749792806 2q37.1 2 233804545C> A null Q K 651 651 missense 0.368 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs912695212 2q37.1 2 233805010C> T null R * 654 654 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,dbSNP,gnomAD rs863223390 2q37.1 2 233805011G> A null R Q 654 654 missense 0.029 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1316946015 2q37.1 2 233805027G> T null K N 659 659 missense 0.743 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1266577174 2q37.1 2 233805029C> G null T S 660 660 missense 0.345 benign 0.37 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1201608726 2q37.1 2 233805032G> A null R Q 661 661 missense 0.014 benign 0.35 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs186995831 2q37.1 2 233805031C> T null R W 661 661 5.99E-4 missense 0.033 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs79208193 2q37.1 2 233805035G> T null G V 662 662 0.01737 missense 0.895 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs994624741 2q37.1 2 233805045G> A null W * 665 665 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1327647203 2q37.1 2 233805044G> T null W L 665 665 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1171356390 2q37.1 2 233805043T> C null W R 665 665 missense 0.632 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1389790116 2q37.1 2 233805046A> G null S G 666 666 missense 0.826 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1163108742 2q37.1 2 233805052C> T null R C 668 668 missense 0.92 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs947070117 2q37.1 2 233805053G> A null R H 668 668 missense 0.29 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1337818396 2q37.1 2 233805065A> G null E G 672 672 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs745539802 2q37.1 2 233805064G> A null E K 672 672 missense 0.533 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs868138667 2q37.1 2 233805070A> G null N D 674 674 missense 0.391 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs938378906 2q37.1 2 233805071A> G null N S 674 674 missense 0.076 benign 0.25 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1295823870 2q37.1 2 233805073A> G null N D 675 675 missense 0.573 possibly damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1327894860 2q37.1 2 233805077A> G null Q R 676 676 missense 0.229 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1475229933 2q37.1 2 233805081T> G null I M 677 677 missense 0.038 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1056895420 2q37.1 2 233805083C> A null A E 678 678 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1275435611 2q37.1 2 233805082G> A null A T 678 678 missense 0.039 benign 0.5 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1056895420 2q37.1 2 233805083C> T null A V 678 678 missense 0.0 benign 0.28 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1360000206 2q37.1 2 233805087C> A null S R 679 679 missense 0.674 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1224667852 2q37.1 2 233805088T> G null F V 680 680 missense 0.647 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1283844069 2q37.1 2 233805095G> A null S N 682 682 missense 0.401 benign 0.74 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1487989721 2q37.1 2 233805098C> G null P R 683 683 missense 0.851 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs894339171 2q37.1 2 233805100T> C null S P 684 684 missense 0.229 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs777229250 2q37.1 2 233805107A> G null E G 686 686 missense 0.928 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1303266141 2q37.1 2 233807424G> T null G V 688 688 missense 0.263 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1482371628 2q37.1 2 233807426T> C null F L 689 689 missense 0.887 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1200126538 2q37.1 2 233807433A> G null Y C 691 691 missense 0.56 possibly damaging 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs751340296 2q37.1 2 233807436G> A null R Q 692 692 missense 0.103 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs769316897 2q37.1 2 233807435C> T null R W 692 692 missense 0.368 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1177227252 2q37.1 2 233807438G> C null A P 693 693 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1380224573 2q37.1 2 233807439C> T null A V 693 693 missense 0.722 possibly damaging 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1159130766 2q37.1 2 233807444G> A null G S 695 695 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1346482763 2q37.1 2 233807451C> T null T I 697 697 missense 0.802 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1475630612 2q37.1 2 233807476C> A null S R 705 705 missense 0.196 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs998680458 2q37.1 2 233807477A> G null K E 706 706 missense 0.47 possibly damaging 0.22 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1454372231 2q37.1 2 233807483G> A null E K 708 708 missense 0.345 benign 0.22 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1329049321 2q37.1 2 233807492C> A null L M 711 711 missense 0.997 probably damaging 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1224294763 2q37.1 2 233807496T> C null L S 712 712 missense 0.626 possibly damaging 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1452776226 2q37.1 2 233807498G> C null E Q 713 713 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs190058370 2q37.1 2 233807514C> T null T M 718 718 missense 0.988 probably damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs756052406 2q37.1 2 233807517A> G null D G 719 719 missense 0.547 possibly damaging 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1012711722 2q37.1 2 233807532T> C null F S 724 724 missense 0.92 probably damaging 0.14 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs553197150 2q37.1 2 233807535A> G null D G 725 725 2.0E-4 missense 0.722 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1237973451 2q37.1 2 233807538G> A null S N 726 726 missense 0.034 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs749457082 2q37.1 2 233807540G> T null E * 727 727 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs749457082 2q37.1 2 233807540G> A null E K 727 727 missense 0.227 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1168043815 2q37.1 2 233807734G> A null G D 728 728 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1418376759 2q37.1 2 233807736G> A null V M 729 729 missense 0.392 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs563240000 2q37.1 2 233807741T> G null I M 730 730 7.99E-4 missense 0.853 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1172273559 2q37.1 2 233807744G> A null M I 731 731 missense 0.0 benign 0.28 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs368835816 2q37.1 2 233807742A> C null M L 731 731 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1375006610 2q37.1 2 233807746G> A null C Y 732 732 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs976766422 2q37.1 2 233807755T> C null L P 735 735 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1423997785 2q37.1 2 233807761C> T null A V 737 737 missense 0.408 benign 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs201507880 2q37.1 2 233807763C> G null R G 738 738 missense 0.743 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs760075809 2q37.1 2 233807764G> A null R Q 738 738 missense 0.158 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs201507880 2q37.1 2 233807763C> T null R W 738 738 missense 0.368 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1012765310 2q37.1 2 233807766G> A null G S 739 739 missense 0.662 possibly damaging 0.26 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1269769589 2q37.1 2 233807771G> T null Q H 740 740 missense 1.0 probably damaging 0.67 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs775574614 2q37.1 2 233807779C> T null T M 743 743 missense 0.711 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1288246344 2q37.1 2 233807781G> A null V M 744 744 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1316417122 2q37.1 2 233807794T> A null L H 748 748 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1321620096 2q37.1 2 233807796C> A null H N 749 749 missense 0.283 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1223937611 2q37.1 2 233807797A> G null H R 749 749 missense 0.007 benign 0.42 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1490683011 2q37.1 2 233807801C> A null D E 750 750 missense 0.031 benign 0.56 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs764362364 2q37.1 2 233807799G> A null D N 750 750 missense 0.784 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs888216891 2q37.1 2 233807803T> G null F C 751 751 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs770830505 2q37.1 2 233807804C> G null F L 751 751 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs757588872 2q37.1 2 233807805G> A null E K 752 752 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs757588872 2q37.1 2 233807805G> C null E Q 752 752 missense 1.0 probably damaging 0.53 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1475574224 2q37.1 2 233807813G> C null R S 754 754 missense 0.391 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1429335942 2q37.1 2 233807817C> T null Q * 756 756 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1342941218 2q37.1 2 233807821A> G null E G 757 757 missense 0.928 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs767317698 2q37.1 2 233807820G> C null E Q 757 757 missense 0.974 probably damaging 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559463709 2q37.1 2 233807824C> G null S * 758 758 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1443815072 2q37.1 2 233807827A> G null E G 759 759 missense 0.85 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1164082438 2q37.1 2 233807829C> T null Q * 760 760 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1367389915 2q37.1 2 233807833C> T null S F 761 761 missense 0.773 possibly damaging 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1417869623 2q37.1 2 233807836G> A null W * 762 762 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1052175675 2q37.1 2 233807854G> A null R Q 768 768 missense 0.031 benign 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs868288839 2q37.1 2 233807853C> T null R W 768 768 missense 0.92 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1025990760 2q37.1 2 233809136C> G null P R 772 772 missense 0.974 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs867028080 2q37.1 2 233809135C> T null P S 772 772 missense 0.961 probably damaging 0.57 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1437814213 2q37.1 2 233809145G> A null R Q 775 775 missense 0.522 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs76883884 2q37.1 2 233809144C> T null R W 775 775 0.003994 missense 0.168 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs906753274 2q37.1 2 233809147G> A null E K 776 776 missense 0.774 possibly damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1003210703 2q37.1 2 233809157A> C null K T 779 779 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1033731738 2q37.1 2 233809165C> T null L F 782 782 missense 0.324 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs370343788 2q37.1 2 233809168A> T null M L 783 783 missense 0.027 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1173885212 2q37.1 2 233809169T> G null M R 783 783 missense 0.864 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1420641474 2q37.1 2 233809175T> C null M T 785 785 missense 0.021 benign 0.28 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1332378091 2q37.1 2 233809186G> A null V M 789 789 missense 0.722 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs188948269 2q37.1 2 233809193C> A null S Y 791 791 5.99E-4 missense 0.593 possibly damaging 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1016621631 2q37.1 2 233809201C> T null H Y 794 794 missense 0.91 probably damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1465539586 2q37.1 2 233809204C> G null P A 795 795 missense 0.789 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1339178507 2q37.1 2 233809208A> G null Q R 796 796 missense 0.145 benign 0.27 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs768821476 2q37.1 2 233809220A> G null N S 800 800 missense 0.003 benign 0.53 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs774622242 2q37.1 2 233809222C> T null L F 801 801 missense 0.141 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs756416632 2q37.1 2 233809225G> A null V M 802 802 missense 0.255 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1260793803 2q37.1 2 233809229A> G null D G 803 803 missense 0.066 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1336410309 2q37.1 2 233809228G> A null D N 803 803 missense 0.103 benign 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1460650643 2q37.1 2 233809235C> T null P L 805 805 missense 0.031 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,gnomAD rs191051041 2q37.1 2 233809237A> G null I V 806 806 missense 0.651 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs567484824 2q37.1 2 233809243G> T null A S 808 808 5.99E-4 missense 0.021 benign 0.89 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs567484824 2q37.1 2 233809243G> A null A T 808 808 5.99E-4 missense 0.021 benign 0.45 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs749454046 2q37.1 2 233809246A> G null K E 809 809 missense 0.961 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559465226 2q37.1 2 233809249A> T null I F 810 810 missense 0.903 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs372644391 2q37.1 2 233809255C> T null H Y 812 812 missense 0.974 probably damaging 0.63 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1001581287 2q37.1 2 233809261T> C null Y H 814 814 missense 0.968 probably damaging 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1386645014 2q37.1 2 233809274G> T null C F 818 818 missense 0.892 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs778385010 2q37.1 2 233810796C> A null D E 820 820 missense 0.837 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1197343593 2q37.1 2 233810794G> A null D N 820 820 missense 0.308 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1480866056 2q37.1 2 233810799C> G null I M 821 821 missense 0.506 possibly damaging 0.98 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1381126902 2q37.1 2 233810798T> C null I T 821 821 missense 0.003 benign 0.28 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1201805218 2q37.1 2 233810800T> C null C R 822 822 missense 0.015 benign 0.43 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1421780786 2q37.1 2 233810801G> A null C Y 822 822 missense 0.005 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1473826270 2q37.1 2 233810803C> T null L F 823 823 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1258126784 2q37.1 2 233810811G> A null M I 825 825 missense 0.02 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1461743770 2q37.1 2 233810812G> C null A P 826 826 missense 0.982 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs577526406 2q37.1 2 233810816T> G null F C 827 827 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1168924733 2q37.1 2 233810815T> C null F L 827 827 missense 0.287 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1404149017 2q37.1 2 233810818A> G null M V 828 828 missense 0.007 benign 0.43 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1300713111 2q37.1 2 233810821A> T null K * 829 829 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1313809171 2q37.1 2 233810826T> G null S R 830 830 missense 0.638 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs898545336 2q37.1 2 233810828T> C null V A 831 831 missense 0.11 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs28900672 2q37.1 2 233810833C> T null Q * 833 833 0.01498 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs758004773 2q37.1 2 233810836G> T null V F 834 834 missense 0.903 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1194983115 2q37.1 2 233810842A> T null K * 836 836 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559466774 2q37.1 2 233810846C> T null A V 837 837 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1251731517 2q37.1 2 233810848A> G null I V 838 838 missense 0.026 benign 0.71 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1341356431 2q37.1 2 233810852A> G null N S 839 839 missense 0.009 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1025844773 2q37.1 2 233810867T> C null L P 844 844 missense 0.026 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1220211439 2q37.1 2 233810873A> G null D G 846 846 missense 0.062 benign 0.3 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs559912036 2q37.1 2 233810872G> A null D N 846 846 missense 0.097 benign 0.3 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs776424659 2q37.1 2 233810875T> A null F I 847 847 missense 0.124 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs576708238 2q37.1 2 233810880C> G null H Q 848 848 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1224826517 2q37.1 2 233810883T> G null F L 849 849 missense 0.026 benign 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs898894369 2q37.1 2 233810885C> T null A V 850 850 missense 0.199 benign 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs542205328 2q37.1 2 233810888A> G null Q R 851 851 2.0E-4 missense 0.014 benign 0.65 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs780601981 2q37.1 2 233810894C> T null T M 853 853 missense 0.015 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1414768842 2q37.1 2 233810899C> T null L F 855 855 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1375185695 2q37.1 2 233810903C> A null T N 856 856 missense 0.971 probably damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1354138005 2q37.1 2 233810902A> C null T P 856 856 missense 0.971 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1300394719 2q37.1 2 233810906G> A null S N 857 857 missense 0.102 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs994927372 2q37.1 2 233810908A> T null I F 858 858 missense 0.28 benign 0.56 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs994927372 2q37.1 2 233810908A> C null I L 858 858 missense 0.003 benign 0.59 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs994927372 2q37.1 2 233810908A> G null I V 858 858 missense 0.043 benign 0.39 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs975052953 2q37.1 2 233810915T> C null V A 860 860 missense 0.014 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs769344590 2q37.1 2 233810914G> A null V M 860 860 missense 0.026 benign 0.49 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1386405625 2q37.1 2 233811880G> T null A S 861 861 missense 0.076 benign 0.56 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs907643173 2q37.1 2 233811881C> T null A V 861 861 missense 0.019 benign 0.31 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1357925292 2q37.1 2 233811892G> A null A T 865 865 missense 0.422 benign 0.23 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs866984468 2q37.1 2 233811899C> T null P L 867 867 missense 0.043 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1289033040 2q37.1 2 233811904G> C null D H 869 869 missense 0.845 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1335912161 2q37.1 2 233811917C> T null S F 873 873 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,gnomAD rs531615366 2q37.1 2 233811920C> T null P L 874 874 2.0E-4 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1248135588 2q37.1 2 233811923T> G null V G 875 875 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs368947612 2q37.1 2 233811925C> T null R * 876 876 2.0E-4 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs116409079 2q37.1 2 233811926G> A null R Q 876 876 0.006589 missense 0.259 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559467888 2q37.1 2 233811929C> A null A D 877 877 missense 0.147 benign 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs527283094 2q37.1 2 233811935C> A null A E 879 879 2.0E-4 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs527283094 2q37.1 2 233811935C> T null A V 879 879 2.0E-4 missense 0.588 possibly damaging 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1351266715 2q37.1 2 233811939G> C null M I 880 880 missense 0.052 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,gnomAD rs547459734 2q37.1 2 233811941A> G null E G 881 881 2.0E-4 missense 0.007 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1203415860 2q37.1 2 233811943G> A null A T 882 882 missense 0.57 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1244182173 2q37.1 2 233811944C> T null A V 882 882 missense 0.935 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1281678084 2q37.1 2 233811946C> T null L F 883 883 missense 0.433 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs542428796 2q37.1 2 233811950C> T null S L 884 884 3.99E-4 missense 0.007 benign 0.79 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs542428796 2q37.1 2 233811950C> G null S W 884 884 3.99E-4 missense 0.033 benign 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1250456881 2q37.1 2 233811952C> T null H Y 885 885 missense 0.062 benign 0.95 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs749736958 2q37.1 2 233811959G> T null S I 887 887 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs773391022 2q37.1 2 233813670C> G null S R 887 887 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1390789201 2q37.1 2 233813679G> C null K N 890 890 missense 0.918 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1198181698 2q37.1 2 233813680C> G null P A 891 891 missense 0.847 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs986540732 2q37.1 2 233813681C> T null P L 891 891 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1198181698 2q37.1 2 233813680C> A null P T 891 891 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1001596768 2q37.1 2 233813684T> C null F S 892 892 missense 0.074 benign 0.4 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1056268798 2q37.1 2 233813689T> A null S T 894 894 missense 0.392 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1017645025 2q37.1 2 233813692A> G null T A 895 895 missense 0.007 benign 0.14 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs369965456 2q37.1 2 233813698G> T null E * 897 897 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1488071942 2q37.1 2 233813701A> T null N Y 898 898 missense 0.871 possibly damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1462475196 2q37.1 2 233813704A> C null S R 899 899 missense 0.062 benign 0.4 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1309899577 2q37.1 2 233813705G> C null S T 899 899 missense 0.023 benign 0.42 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1343670588 2q37.1 2 233813708A> G null E G 900 900 missense 0.894 possibly damaging 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs887964183 2q37.1 2 233813715G> A null M I 902 902 missense 0.621 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1404771470 2q37.1 2 233813714T> A null M K 902 902 missense 0.91 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1404432914 2q37.1 2 233813717A> G null D G 903 903 missense 0.154 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs969116826 2q37.1 2 233813724C> G null S R 905 905 missense 0.119 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs534803172 2q37.1 2 233813729A> C null H P 907 907 2.0E-4 missense 0.722 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs776347914 2q37.1 2 233813755G> T null G * 916 916 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1326192944 2q37.1 2 233813758G> A null E K 917 917 missense 0.045 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs530631790 2q37.1 2 233813761G> A null D N 918 918 missense 0.097 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1295375824 2q37.1 2 233813768A> G null E G 920 920 missense 0.283 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs550339882 2q37.1 2 233813774T> C null I T 922 922 missense 0.472 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs765113165 2q37.1 2 233813778G> C null K N 923 923 missense 0.677 possibly damaging 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1207200656 2q37.1 2 233813777A> C null K T 923 923 missense 0.045 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs912154606 2q37.1 2 233814585C> A null L M 925 925 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs766191769 2q37.1 2 233814586T> C null L P 925 925 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs943577898 2q37.1 2 233814589A> G null Y C 926 926 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1291928350 2q37.1 2 233814588T> A null Y N 926 926 missense 0.903 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs756964020 2q37.1 2 233814597G> C null A P 929 929 missense 0.168 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs756964020 2q37.1 2 233814597G> T null A S 929 929 missense 0.209 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1248614318 2q37.1 2 233814598C> T null A V 929 929 missense 0.793 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1241176908 2q37.1 2 233814601T> C null L P 930 930 missense 0.892 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1219843172 2q37.1 2 233814612G> C null E Q 934 934 missense 0.081 benign 0.25 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1383296996 2q37.1 2 233814623G> T null M I 937 937 missense 0.045 benign 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed rs544539287 2q37.1 2 233814626G> C null E D 938 938 2.0E-4 missense 0.068 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1443990991 2q37.1 2 233814629C> G null S R 939 939 missense 0.007 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,gnomAD rs561617103 2q37.1 2 233814630C> T null L F 940 940 2.0E-4 missense 0.947 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1416007559 2q37.1 2 233814634T> A null L Q 941 941 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs552017145 2q37.1 2 233814640G> A null R K 943 943 missense 0.031 benign 0.14 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs530374899 2q37.1 2 233814642C> T null Q * 944 944 0.001198 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1437721734 2q37.1 2 233814671G> A null M I 953 953 missense 0.012 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1335213486 2q37.1 2 233814672G> C null V L 954 954 missense 0.255 benign 0.26 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs115274498 2q37.1 2 233816781C> T null L F 956 956 0.002396 missense 0.246 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1174687813 2q37.1 2 233816782T> C null L P 956 956 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs540080472 2q37.1 2 233816794G> T null W L 960 960 3.99E-4 missense 0.901 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs771087111 2q37.1 2 233816797T> A null I N 961 961 missense 0.898 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs750113741 2q37.1 2 233816803C> T null S L 963 963 missense 0.865 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs745620003 2q37.1 2 233816805G> A null E K 964 964 missense 0.991 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs775400641 2q37.1 2 233816821G> A null R Q 969 969 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs879142849 2q37.1 2 233816820C> T null R W 969 969 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1200828677 2q37.1 2 233816826A> T null K * 971 971 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs576717420 2q37.1 2 233816832G> A null V M 973 973 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs958018420 2q37.1 2 233816836G> A null S N 974 974 missense 0.0 benign 0.59 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs755684077 2q37.1 2 233816839T> C null L P 975 975 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs755684077 2q37.1 2 233816839T> G null L R 975 975 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1181148977 2q37.1 2 233816842A> G null H R 976 976 missense 0.492 possibly damaging 0.33 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs764249874 2q37.1 2 233816848A> G null Y C 978 978 missense 0.001 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs948156292 2q37.1 2 233816850C> T null L F 979 979 missense 0.529 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1197477146 2q37.1 2 233816857G> A null W * 981 981 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs726016 2q37.1 2 233816856T> A null W R 981 981 0.1711 missense 0.0 benign 0.47 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs726016 2q37.1 2 233816856T> C null W R 981 981 0.1711 missense 0.0 benign 0.47 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1182363641 2q37.1 2 233816865G> A null V I 984 984 missense 0.02 benign 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs189205984 2q37.1 2 233816871A> G null S G 986 986 2.0E-4 missense 0.019 benign 0.2 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1158619958 2q37.1 2 233816872G> A null S N 986 986 missense 0.045 benign 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1174743306 2q37.1 2 233816873C> A null S R 986 986 missense 0.019 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1158619958 2q37.1 2 233816872G> C null S T 986 986 missense 0.052 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1394949168 2q37.1 2 233816880G> A null V I 989 989 missense 0.026 benign 0.38 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1409943748 2q37.1 2 233816884G> A null C Y 990 990 missense 0.898 possibly damaging 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs768418379 2q37.1 2 233818014C> G null L V 995 995 missense 0.243 benign 0.22 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs535125815 2q37.1 2 233818023T> A null F I 998 998 missense 0.926 probably damaging 0.26 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs953015204 2q37.1 2 233818029A> G null T A 1000 1000 missense 0.031 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs770367514 2q37.1 2 233818030C> T null T I 1000 1000 missense 0.045 benign 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs867310110 2q37.1 2 233818032A> T null M L 1001 1001 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1392554713 2q37.1 2 233818035G> A null V I 1002 1002 missense 0.073 benign 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs926168214 cosmic curated [Cosmic]: breast pubmed:22722201,cosmic_study:385 2q37.1 2 233818038G> A null G R 1003 1003 missense 0.632 possibly damaging 0.03 deleterious 1 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs761883729 2q37.1 2 233818048C> T null A V 1006 1006 missense 0.246 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs771687908 2q37.1 2 233818051C> T null P L 1007 1007 missense 0.805 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs968635288 2q37.1 2 233818050C> T null P S 1007 1007 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1382330967 2q37.1 2 233818055C> A null C * 1008 1008 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs924025128 2q37.1 2 233818056A> C null T P 1009 1009 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs960862213 2q37.1 2 233818062G> A null D N 1011 1011 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs541006233 2q37.1 2 233818066C> A null A D 1012 1012 3.99E-4 missense 0.014 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1258456696 2q37.1 2 233818071C> T null Q * 1014 1014 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs535812122 2q37.1 2 233818080C> T null R C 1017 1017 missense 0.848 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs930450394 2q37.1 2 233818081G> A null R H 1017 1017 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs766064063 2q37.1 2 233818085G> A null M I 1018 1018 missense 0.0 benign 0.57 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs774248528 2q37.1 2 233818084T> C null M T 1018 1018 missense 0.063 benign 0.32 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1242204127 2q37.1 2 233818093T> C null M T 1021 1021 missense 0.001 benign 0.5 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1350304899 2q37.1 2 233818092A> G null M V 1021 1021 missense 0.001 benign 0.47 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1250337519 2q37.1 2 233818099T> C null V A 1023 1023 missense 0.15 benign 0.3 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1250337519 2q37.1 2 233818099T> A null V D 1023 1023 missense 0.912 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1209727844 2q37.1 2 233818098G> A null V I 1023 1023 missense 0.052 benign 0.16 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs752951251 2q37.1 2 233818105C> G null S C 1025 1025 missense 0.048 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs752951251 2q37.1 2 233818105C> T null S F 1025 1025 missense 0.463 possibly damaging 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1049011861 2q37.1 2 233818108G> A null S N 1026 1026 missense 0.03 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs984692687 2q37.1 2 233818119C> T null L F 1030 1030 missense 0.834 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs186106859 2q37.1 2 233818125G> A null A T 1032 1032 2.0E-4 missense 0.125 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs907483666 2q37.1 2 233818652C> T null A V 1032 1032 missense 0.076 benign 0.2 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1425708490 2q37.1 2 233818661C> A null T N 1035 1035 missense 0.749 possibly damaging 0.39 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1342458749 2q37.1 2 233818667C> T null S F 1037 1037 missense 0.238 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs985923496 2q37.1 2 233818674G> A null W * 1039 1039 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs768526085 2q37.1 2 233818672T> C null W R 1039 1039 missense 0.423 benign 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1410530011 2q37.1 2 233818678C> G null P A 1041 1041 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1410530011 2q37.1 2 233818678C> T null P S 1041 1041 missense 0.0 benign 0.58 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs719418 2q37.1 2 233818687C> G null Q E 1044 1044 0.2859 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1166710268 2q37.1 2 233818688A> G null Q R 1044 1044 missense 0.024 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs984554452 2q37.1 2 233818699G> A null E K 1048 1048 missense 0.014 benign 0.41 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs748087481 2q37.1 2 233818711G> A null G R 1052 1052 missense 0.01 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1314422298 2q37.1 2 233818716C> A null D E 1053 1053 missense 0.073 benign 0.77 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1014640085 2q37.1 2 233818724G> A null S N 1056 1056 missense 0.013 benign 0.26 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1372156696 2q37.1 2 233818725C> A null S R 1056 1056 missense 0.26 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs878867549 2q37.1 2 233818730A> C null D A 1058 1058 missense 0.699 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs961878662 2q37.1 2 233818729G> T null D Y 1058 1058 missense 0.886 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1251263568 2q37.1 2 233818736A> G null E G 1060 1060 missense 0.042 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs947155647 2q37.1 2 233818738A> G null K E 1061 1061 missense 0.012 benign 0.89 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs772202914 2q37.1 2 233818741A> T null I F 1062 1062 missense 0.69 possibly damaging 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs772781976 2q37.1 2 233818747T> G null C G 1064 1064 missense 0.0 benign 0.44 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1187588824 2q37.1 2 233818748G> A null C Y 1064 1064 missense 0.003 benign 0.27 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1489750968 2q37.1 2 233818754C> T null S F 1066 1066 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1253512555 2q37.1 2 233818753T> C null S P 1066 1066 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1485849604 2q37.1 2 233818757C> T null S F 1067 1067 missense 0.062 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs764506711 2q37.1 2 233818756T> C null S P 1067 1067 missense 0.892 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1259331541 2q37.1 2 233818760G> A null R K 1068 1068 missense 0.188 benign 0.87 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs757301521 2q37.1 2 233818765G> A null A T 1070 1070 missense 0.436 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1434712312 2q37.1 2 233818768A> C null K Q 1071 1071 missense 0.219 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1170530530 2q37.1 2 233819317G> A null V M 1072 1072 missense 0.062 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1383417038 2q37.1 2 233819320G> T null V F 1073 1073 missense 0.097 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs890480898 2q37.1 2 233819325C> A null C * 1074 1074 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1165673576 2q37.1 2 233819326A> G null M V 1075 1075 missense 0.0 benign 0.16 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs766470502 2q37.1 2 233819329G> A null E K 1076 1076 missense 0.47 possibly damaging 0.36 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1429047167 2q37.1 2 233819334T> G null F L 1077 1077 missense 0.018 benign 0.22 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs17864722 2q37.1 2 233819336G> T null S I 1078 1078 missense 0.059 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,dbSNP,gnomAD rs17864722 2q37.1 2 233819336G> C null S T 1078 1078 missense 0.003 benign 0.34 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs778846571 2q37.1 2 233819346G> T null E D 1081 1081 missense 0.308 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1233955679 2q37.1 2 233819350G> A null V I 1083 1083 missense 0.209 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs981933456 2q37.1 2 233819354C> T null S L 1084 1084 missense 0.012 benign 0.39 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1290139530 2q37.1 2 233819371T> C null C R 1090 1090 missense 0.07 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs758357204 2q37.1 2 233819374G> A null E K 1091 1091 missense 0.324 benign 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1000112326 2q37.1 2 233819378A> G null N S 1092 1092 missense 0.046 benign 0.42 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559475705 2q37.1 2 233819381C> T null T I 1093 1093 missense 0.0 benign 0.51 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs570247775 2q37.1 2 233819386G> A null A T 1095 1095 missense 0.948 probably damaging 0.25 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1241210912 2q37.1 2 233819391G> A null M I 1096 1096 missense 0.097 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs937413254 2q37.1 2 233819390T> A null M K 1096 1096 missense 0.283 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs937413254 2q37.1 2 233819390T> C null M T 1096 1096 missense 0.006 benign 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1325326991 2q37.1 2 233819394C> A null N K 1097 1097 missense 0.062 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1023984208 2q37.1 2 233819410G> T null A S 1103 1103 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559475781 2q37.1 2 233819413T> G null S A 1104 1104 missense 0.012 benign 0.76 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1477693155 2q37.1 2 233819417T> G null V G 1105 1105 missense 0.246 benign 0.57 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs909378119 2q37.1 2 233819420C> G null T S 1106 1106 missense 0.02 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1367998978 2q37.1 2 233819425A> G null I V 1108 1108 missense 0.216 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1158752740 2q37.1 2 233819429C> T null A V 1109 1109 missense 0.001 benign 0.53 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1500480 2q37.1 2 233819432T> C null F S 1110 1110 0.1741 missense 0.0 benign 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs1500480 2q37.1 2 233819432T> A null F Y 1110 1110 0.1741 missense 0.017 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1291506033 2q37.1 2 233819437C> T null L F 1112 1112 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs746480955 2q37.1 2 233819447G> A null R Q 1115 1115 missense 0.113 benign 0.46 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1459171874 2q37.1 2 233819446C> T null R W 1115 1115 missense 0.012 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1036583068 2q37.1 2 233819455G> A null E K 1118 1118 missense 0.793 possibly damaging 0.23 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs942310026 2q37.1 2 233819461G> C null E Q 1120 1120 missense 0.854 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1171247282 2q37.1 2 233819905G> A null A T 1124 1124 missense 0.132 benign 0.58 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1287245305 2q37.1 2 233819908G> A null E K 1125 1125 missense 0.829 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1284952439 2q37.1 2 233819911A> T null I F 1126 1126 missense 0.917 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1229980021 2q37.1 2 233819921C> A null A D 1129 1129 missense 0.794 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1350791997 2q37.1 2 233819920G> A null A T 1129 1129 missense 0.031 benign 0.78 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1272899653 2q37.1 2 233819923A> G null I V 1130 1130 missense 0.401 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes rs181444263 2q37.1 2 233819930T> C null V A 1132 1132 missense 0.005 benign 0.72 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs773736964 2q37.1 2 233819934C> A null H Q 1133 1133 missense 0.052 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs28900687 2q37.1 2 233819939C> T null P L 1135 1135 0.004593 missense 0.628 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1252793708 2q37.1 2 233819949C> A null D E 1138 1138 missense 0.007 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1016334204 2q37.1 2 233819959G> A null V M 1142 1142 missense 0.968 probably damaging 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs372544804 2q37.1 2 233819962C> G null R G 1143 1143 missense 0.881 possibly damaging 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1234437711 2q37.1 2 233819963G> A null R Q 1143 1143 missense 0.259 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs372544804 2q37.1 2 233819962C> T null R W 1143 1143 missense 0.235 benign 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28900688 2q37.1 2 233819965C> T null R C 1144 1144 0.02835 missense 0.027 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs752495187 2q37.1 2 233819966G> A null R H 1144 1144 missense 0.007 benign 0.32 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs752495187 2q37.1 2 233819966G> C null R P 1144 1144 missense 0.683 possibly damaging 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559476546 2q37.1 2 233819968C> T null L F 1145 1145 missense 0.03 benign 0.98 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs769228836 2q37.1 2 233819979C> A null D E 1148 1148 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs964853682 2q37.1 2 233819981G> C null G A 1149 1149 missense 0.476 possibly damaging 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs964853682 2q37.1 2 233819981G> A null G D 1149 1149 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs544881453 2q37.1 2 233819980G> C null G R 1149 1149 5.99E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs544881453 2q37.1 2 233819980G> A null G S 1149 1149 5.99E-4 missense 0.976 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs988120142 2q37.1 2 233819984T> A null I N 1150 1150 missense 0.811 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1195263942 2q37.1 2 233819993T> C null L P 1153 1153 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs575256129 2q37.1 2 233819996C> T null A V 1154 1154 0.001797 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs746945799 2q37.1 2 233820002A> G null H R 1156 1156 missense 0.005 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1227729555 2q37.1 2 233820014C> A null T N 1160 1160 missense 0.361 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs893588175 2q37.1 2 233820019C> T null L F 1162 1162 missense 0.987 probably damaging 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1344441404 2q37.1 2 233820022A> C null T P 1163 1163 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs540608731 2q37.1 2 233820026C> T null S L 1164 1164 5.99E-4 missense 0.023 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs540608731 2q37.1 2 233820026C> G null S W 1164 1164 5.99E-4 missense 0.856 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1452482896 2q37.1 2 233820037C> T null Q * 1168 1168 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1282905070 2q37.1 2 233820047C> T null P L 1171 1171 missense 0.873 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1201548163 2q37.1 2 233820049A> G null M V 1172 1172 missense 0.571 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1246706090 2q37.1 2 233820052G> A null E K 1173 1173 missense 0.554 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs560317359 2q37.1 2 233820056G> T null S I 1174 1174 5.99E-4 missense 0.939 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1003241383 2q37.1 2 233822127C> A null H Q 1175 1175 missense 0.975 probably damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1250454723 2q37.1 2 233822125C> T null H Y 1175 1175 missense 0.975 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1184855489 2q37.1 2 233822132C> A null A E 1177 1177 missense 0.102 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1449768541 2q37.1 2 233822136G> C null E D 1178 1178 missense 0.308 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1367510364 2q37.1 2 233822138T> C null V A 1179 1179 missense 0.962 probably damaging 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1335282385 2q37.1 2 233822137G> A null V M 1179 1179 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs992620192 2q37.1 2 233822140T> A null W R 1180 1180 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1458128587 2q37.1 2 233822147C> T null A V 1182 1182 missense 0.638 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1290496192 2q37.1 2 233822150T> C null V A 1183 1183 missense 0.015 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs751376249 2q37.1 2 233822153C> T null S L 1184 1184 missense 0.062 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs918094565 2q37.1 2 233822156A> C null E A 1185 1185 missense 0.401 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs6734083 2q37.1 2 233822161G> A null V M 1187 1187 0.08467 missense 0.062 benign 0.29 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs553969524 2q37.1 2 233822170G> A null A T 1190 1190 3.99E-4 missense 0.177 benign 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs577027731 2q37.1 2 233822173C> G null R G 1191 1191 2.0E-4 missense 0.743 possibly damaging 0.4 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs772857264 2q37.1 2 233822174G> A null R Q 1191 1191 missense 0.044 benign 0.48 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs577027731 2q37.1 2 233822173C> T null R W 1191 1191 2.0E-4 missense 0.943 probably damaging 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1481980736 2q37.1 2 233822176A> C null T P 1192 1192 missense 0.091 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1286700568 2q37.1 2 233822179A> G null M V 1193 1193 missense 0.007 benign 0.14 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs546097870 2q37.1 2 233822192T> G null L R 1197 1197 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs765520050 2q37.1 2 233822201G> A null R Q 1200 1200 missense 0.24 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs759559877 2q37.1 2 233822200C> T null R W 1200 1200 missense 0.488 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1198196425 2q37.1 2 233822210C> G null S * 1203 1203 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1423907639 2q37.1 2 233822213G> A null R Q 1204 1204 missense 0.035 benign 0.29 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs752938628 2q37.1 2 233822212C> T null R W 1204 1204 missense 0.03 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs763319453 2q37.1 2 233822215C> A null L I 1205 1205 missense 0.155 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1050114712 2q37.1 2 233822222C> T null P L 1207 1207 missense 0.672 possibly damaging 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs763965761 2q37.1 2 233822237C> T null T I 1212 1212 missense 0.596 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs996606130 2q37.1 2 233822240C> A null S Y 1213 1213 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs893687163 2q37.1 2 233822246C> G null A G 1215 1215 missense 0.47 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1306404128 2q37.1 2 233822250_233822251insTGA C null I * 1217 1217 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1350168737 2q37.1 2 233822252T> C null I T 1217 1217 missense 0.145 benign 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs562418753 2q37.1 2 233822258G> A null R H 1219 1219 7.99E-4 missense 0.628 possibly damaging 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1310838340 2q37.1 2 233822261T> G null L R 1220 1220 missense 0.676 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs904460250 2q37.1 2 233822267C> G null A G 1222 1222 missense 0.767 possibly damaging 0.48 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs904460250 2q37.1 2 233822267C> T null A V 1222 1222 missense 0.401 benign 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1483250457 2q37.1 2 233822272G> A null D N 1224 1224 missense 0.722 possibly damaging 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1290159847 2q37.1 2 233822279T> G null L R 1226 1226 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1351360485 2q37.1 2 233822281A> C null M L 1227 1227 missense 0.366 benign 0.23 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559479197 2q37.1 2 233822364C> T null T I 1228 1228 missense 0.012 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs778134626 2q37.1 2 233822372A> G null T A 1231 1231 missense 0.005 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1228993722 2q37.1 2 233822384C> T null L F 1235 1235 missense 0.967 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1271910379 2q37.1 2 233822388T> C null I T 1236 1236 missense 0.038 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1340873609 2q37.1 2 233822394A> G null K R 1238 1238 missense 0.012 benign 0.47 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs976844458 2q37.1 2 233822411A> G null K E 1244 1244 missense 0.003 benign 0.92 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs922644797 2q37.1 2 233822418C> T null P L 1246 1246 missense 0.003 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1487380887 2q37.1 2 233822417C> T null P S 1246 1246 missense 0.014 benign 0.82 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1455567076 2q37.1 2 233822421A> G null D G 1247 1247 missense 0.026 benign 0.37 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs138495931 2q37.1 2 233822426C> T null L F 1249 1249 0.004193 missense 0.026 benign 0.9 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs571048469 2q37.1 2 233822427T> A null L H 1249 1249 5.99E-4 missense 0.889 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs571048469 2q37.1 2 233822427T> G null L R 1249 1249 5.99E-4 missense 0.856 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1407893170 2q37.1 2 233822433A> G null D G 1251 1251 missense 0.916 probably damaging 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1430496293 2q37.1 2 233822432G> A null D N 1251 1251 missense 0.916 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1157134071 2q37.1 2 233822435C> T null L F 1252 1252 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1172714179 2q37.1 2 233822440C> G null I M 1253 1253 missense 0.259 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1243931209 2q37.1 2 233822445C> T null T I 1255 1255 missense 0.097 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs975853393 2q37.1 2 233822444A> C null T P 1255 1255 missense 0.097 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs908204382 2q37.1 2 233822448T> G null L R 1256 1256 missense 0.918 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs943677613 2q37.1 2 233822457A> G null Q R 1259 1259 missense 0.183 benign 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,gnomAD rs533412123 2q37.1 2 233822471C> T null H Y 1264 1264 2.0E-4 missense 0.007 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs550071912 2q37.1 2 233822474C> T null R * 1265 1265 2.0E-4 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1042908100 2q37.1 2 233822475G> A null R Q 1265 1265 missense 0.0 benign 0.66 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs939158637 2q37.1 2 233822478C> G null P R 1266 1266 missense 0.924 probably damaging 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1433468419 2q37.1 2 233822477C> T null P S 1266 1266 missense 0.172 benign 0.35 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs904344570 2q37.1 2 233822483G> A null A T 1268 1268 missense 0.007 benign 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1056150115 2q37.1 2 233822484C> T null A V 1268 1268 missense 0.011 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1053422965 2q37.1 2 233822486G> A null A T 1269 1269 missense 0.012 benign 0.69 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs763259975 2q37.1 2 233822490C> T null P L 1270 1270 missense 0.003 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs751306550 2q37.1 2 233822493C> T null P L 1271 1271 missense 0.455 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs750294323 2q37.1 2 233822504A> G null M V 1275 1275 missense 0.01 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1186528161 2q37.1 2 233822508G> A null W * 1276 1276 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1407400384 2q37.1 2 233822509G> A null W * 1276 1276 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs756092503 2q37.1 2 233822512G> T null K N 1277 1277 missense 0.055 benign 0.05 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1027351113 2q37.1 2 233822519C> A null H N 1280 1280 missense 0.283 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1027351113 2q37.1 2 233822519C> T null H Y 1280 1280 missense 0.014 benign 0.25 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs887421613 2q37.1 2 233822523C> A null T N 1281 1281 missense 0.043 benign 0.27 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs887421613 2q37.1 2 233822523C> G null T S 1281 1281 missense 0.014 benign 0.53 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1187135054 2q37.1 2 233822532T> A null L Q 1284 1284 missense 0.992 probably damaging 0.14 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1392271481 2q37.1 2 233822531C> G null L V 1284 1284 missense 0.874 possibly damaging 0.38 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs200309402 2q37.1 2 233822535C> T null P L 1285 1285 missense 0.426 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs200309402 2q37.1 2 233822535C> G null P R 1285 1285 missense 0.612 possibly damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1423501863 2q37.1 2 233822534C> T null P S 1285 1285 missense 0.023 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1455978481 2q37.1 2 233822537G> A null E K 1286 1286 missense 0.012 benign 0.14 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs565821750 2q37.1 2 233822540G> A null E K 1287 1287 2.0E-4 missense 0.132 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1490449470 2q37.1 2 233822544T> C null M T 1288 1288 missense 0.015 benign 0.7 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1430796911 2q37.1 2 233822546A> G null N D 1289 1289 missense 0.296 benign 0.46 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1290844153 2q37.1 2 233822548C> A null N K 1289 1289 missense 0.296 benign 0.66 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs961542437 2q37.1 2 233822550T> G null L R 1290 1290 missense 0.918 probably damaging 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1271471822 2q37.1 2 233822556G> A null R K 1292 1292 missense 0.807 possibly damaging 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1376385611 2q37.1 2 233822557G> T null R S 1292 1292 missense 0.899 possibly damaging 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1227340545 2q37.1 2 233822562C> T null S F 1294 1294 missense 0.019 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs75177406 2q37.1 2 233822564C> T null R * 1295 1295 0.04593 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1030243283 2q37.1 2 233822565G> A null R Q 1295 1295 missense 0.0 benign 0.34 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1206657782 2q37.1 2 233822568G> A null G E 1296 1296 missense 0.037 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs983072368 2q37.1 2 233822571G> A null R Q 1297 1297 missense 0.925 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs952950609 2q37.1 2 233822570C> T null R W 1297 1297 missense 0.039 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs940417422 2q37.1 2 233822886C> T null T I 1299 1299 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1384020533 2q37.1 2 233822888A> G null I V 1300 1300 missense 0.021 benign 0.41 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1287531766 2q37.1 2 233822897A> G null M V 1303 1303 missense 0.368 benign 0.25 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs541823725 2q37.1 2 233822900C> T null Q * 1304 1304 2.0E-4 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1225344303 2q37.1 2 233822904T> C null L P 1305 1305 missense 0.892 possibly damaging 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559479955 2q37.1 2 233822909T> C null F L 1307 1307 missense 0.026 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1163827456 2q37.1 2 233822913A> G null K R 1308 1308 missense 0.003 benign 0.62 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1191122353 2q37.1 2 233822918G> A null V I 1310 1310 missense 0.003 benign 0.67 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1036065355 2q37.1 2 233822925G> A null S N 1312 1312 missense 0.003 benign 0.28 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1447106286 2q37.1 2 233822940A> G null H R 1317 1317 missense 0.0 benign 0.57 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs965636151 2q37.1 2 233822950C> G null D E 1320 1320 missense 0.001 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs901497043 2q37.1 2 233822949A> G null D G 1320 1320 missense 0.178 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1252935132 2q37.1 2 233822951G> A null E K 1321 1321 missense 0.263 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1471371207 2q37.1 2 233822952A> T null E V 1321 1321 missense 0.368 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs976962853 2q37.1 2 233822957G> C null A P 1323 1323 missense 0.25 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs976962853 2q37.1 2 233822957G> T null A S 1323 1323 missense 0.003 benign 0.43 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs976962853 2q37.1 2 233822957G> A null A T 1323 1323 missense 0.102 benign 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs998464671 2q37.1 2 233822961T> C null V A 1324 1324 missense 0.401 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs768871490 2q37.1 2 233822968C> A null D E 1326 1326 missense 0.01 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1229666959 2q37.1 2 233822966G> A null D N 1326 1326 missense 0.0 benign 0.23 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC rs774466277 2q37.1 2 233822976A> G null Q R 1329 1329 missense 0.001 benign 0.22 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1380527131 2q37.1 2 233822981G> A null G S 1331 1331 missense 0.0 benign 0.54 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1022381976 2q37.1 2 233822984G> A null G R 1332 1332 missense 0.003 benign 0.68 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs968143308 2q37.1 2 233822992C> G null F L 1334 1334 missense 0.089 benign 0.32 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs999551202 2q37.1 2 233822994T> C null L P 1335 1335 missense 0.154 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1030983797 2q37.1 2 233823000G> C null G A 1337 1337 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1030983797 2q37.1 2 233823000G> T null G V 1337 1337 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1344285761 2q37.1 2 233823015C> G null A G 1342 1342 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1344285761 2q37.1 2 233823015C> T null A V 1342 1342 missense 0.324 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1447118489 2q37.1 2 233823556G> T null R S 1343 1343 missense 0.943 probably damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1447118489 2q37.1 2 233823556G> C null R S 1343 1343 missense 0.943 probably damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1176316825 2q37.1 2 233823558T> C null L P 1344 1344 missense 0.072 benign 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1191911635 2q37.1 2 233823562C> A null C * 1345 1345 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs549266977 2q37.1 2 233823572G> A null V M 1349 1349 3.99E-4 missense 0.026 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs954650766 2q37.1 2 233823577G> C null E D 1350 1350 missense 0.145 benign 0.22 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1203771751 2q37.1 2 233823575G> A null E K 1350 1350 missense 0.145 benign 0.22 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1255957419 2q37.1 2 233823581C> T null H Y 1352 1352 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1389679345 2q37.1 2 233823587C> G null Q E 1354 1354 missense 0.005 benign 0.82 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1461777086 2q37.1 2 233823588A> G null Q R 1354 1354 missense 0.005 benign 0.69 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1386430423 2q37.1 2 233823599G> A null E K 1358 1358 missense 0.045 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1386430423 2q37.1 2 233823599G> C null E Q 1358 1358 missense 0.092 benign 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1180496640 2q37.1 2 233823606T> G null V G 1360 1360 missense 0.672 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1296433294 2q37.1 2 233823612G> C null R T 1362 1362 missense 0.023 benign 0.44 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs746235815 2q37.1 2 233823615G> T null G V 1363 1363 missense 0.793 possibly damaging 0.14 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1345638984 2q37.1 2 233823619G> A null M I 1364 1364 missense 0.026 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs756628312 2q37.1 2 233823617A> T null M L 1364 1364 missense 0.003 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs889918420 2q37.1 2 233823618T> G null M R 1364 1364 missense 0.014 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs889918420 2q37.1 2 233823618T> C null M T 1364 1364 missense 0.206 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs756628312 2q37.1 2 233823617A> G null M V 1364 1364 missense 0.026 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs979661019 2q37.1 2 233823621A> G null D G 1365 1365 missense 0.012 benign 0.51 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1335824753 2q37.1 2 233823629G> T null V F 1368 1368 missense 0.035 benign 0.41 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1335824753 2q37.1 2 233823629G> C null V L 1368 1368 missense 0.007 benign 0.54 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1235592978 2q37.1 2 233823636G> A null S N 1370 1370 missense 0.045 benign 0.65 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1206275114 2q37.1 2 233823641C> T null R C 1372 1372 missense 0.235 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs780726733 2q37.1 2 233823642G> A null R H 1372 1372 missense 0.235 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs749337250 2q37.1 2 233823645T> A null I N 1373 1373 missense 0.554 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1416807618 2q37.1 2 233823651G> A null S N 1375 1375 missense 0.743 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1475402948 2q37.1 2 233823654C> T null T I 1376 1376 missense 0.547 possibly damaging 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1409617252 2q37.1 2 233823656G> T null A S 1377 1377 missense 0.113 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1054691148 2q37.1 2 233823657C> T null A V 1377 1377 missense 0.029 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1445467594 2q37.1 2 233823659G> T null V F 1378 1378 missense 0.003 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1333748597 2q37.1 2 233823666T> G null V G 1380 1380 missense 0.37 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs17868361 2q37.1 2 233823665G> A null V M 1380 1380 0.1218 missense 0.062 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs386656381 2q37.1 2 233823665_233823671delinsATGGAA G null V MEV 1380 1382 missense 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs772933273 2q37.1 2 233823668G> C null E Q 1381 1381 missense 0.361 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1222833042 2q37.1 2 233823672T> G null M R 1382 1382 missense 0.0 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs11676792 2q37.1 2 233823671A> G null M V 1382 1382 0.4079 missense 0.0 benign 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1286806415 2q37.1 2 233823675G> A null R K 1383 1383 missense 0.012 benign 1.0 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs766265552 2q37.1 2 233823676G> T null R S 1383 1383 missense 0.027 benign 0.59 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1240320299 2q37.1 2 233823679C> G null H Q 1384 1384 missense 0.005 benign 0.3 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs776521808 2q37.1 2 233823681G> A null R Q 1385 1385 missense 0.0 benign 0.94 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs537576546 2q37.1 2 233823680C> T null R W 1385 1385 2.0E-4 missense 0.0 benign 0.01 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1480184255 2q37.1 2 233828632C> A null F L 1386 1386 missense 0.021 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1272047454 2q37.1 2 233828630T> G null F V 1386 1386 missense 0.625 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1221177677 2q37.1 2 233828635G> A null M I 1387 1387 missense 0.719 possibly damaging 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs978365331 2q37.1 2 233828634T> C null M T 1387 1387 missense 0.719 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1177628895 2q37.1 2 233828636A> G null S G 1388 1388 missense 0.019 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs772745276 2q37.1 2 233828638C> A null S R 1388 1388 missense 0.045 benign 0.44 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1178212055 2q37.1 2 233828639G> A null G S 1389 1389 missense 0.0 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs572080621 2q37.1 2 233828652A> G null Y C 1393 1393 0.002196 missense 0.048 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1395708126 2q37.1 2 233828654C> T null Q * 1394 1394 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs939124398 2q37.1 2 233828663C> A null L M 1397 1397 missense 0.947 probably damaging 0.2 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1368105534 2q37.1 2 233828664T> C null L P 1397 1397 missense 0.997 probably damaging 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs939124398 2q37.1 2 233828663C> G null L V 1397 1397 missense 0.947 probably damaging 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs541578787 2q37.1 2 233828673C> T null P L 1400 1400 9.98E-4 missense 0.012 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1365964739 2q37.1 2 233828675G> A null A T 1401 1401 missense 0.019 benign 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs916255580 2q37.1 2 233828683G> C null L F 1403 1403 missense 0.011 benign 0.28 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1386653554 2q37.1 2 233828682T> C null L S 1403 1403 missense 0.013 benign 0.15 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1304825701 2q37.1 2 233828684C> A null L M 1404 1404 missense 0.038 benign 0.41 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1304825701 2q37.1 2 233828684C> G null L V 1404 1404 missense 0.02 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1371005604 2q37.1 2 233828688T> C null L P 1405 1405 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1235941114 2q37.1 2 233828690G> A null E K 1406 1406 missense 0.559 possibly damaging 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs780604230 2q37.1 2 233828695G> C null K N 1407 1407 missense 0.743 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs780604230 2q37.1 2 233828695G> T null K N 1407 1407 missense 0.743 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1294927932 2q37.1 2 233828694A> C null K T 1407 1407 missense 0.263 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs947661583 2q37.1 2 233828697G> C null G A 1408 1408 missense 0.996 probably damaging 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs868430856 2q37.1 2 233828700C> G null A G 1409 1409 missense 0.688 possibly damaging 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs868430856 2q37.1 2 233828700C> T null A V 1409 1409 missense 0.031 benign 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs778853440 2q37.1 2 233828702G> C null D H 1410 1410 missense 0.097 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs778853440 2q37.1 2 233828702G> A null D N 1410 1410 missense 0.014 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs778853440 2q37.1 2 233828702G> T null D Y 1410 1410 missense 0.721 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs888733493 2q37.1 2 233828706A> G null Q R 1411 1411 missense 0.472 possibly damaging 0.66 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs941607585 2q37.1 2 233828711G> A null E K 1413 1413 missense 0.031 benign 0.18 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs564360756 2q37.1 2 233828717G> A null E K 1415 1415 7.99E-4 missense 0.045 benign 0.36 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1172838468 2q37.1 2 233828723C> A null L M 1417 1417 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs978988264 2q37.1 2 233828727G> A null R Q 1418 1418 missense 0.188 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs7564261 2q37.1 2 233828726C> T null R W 1418 1418 0.2644 missense 0.331 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559485233 2q37.1 2 233828729G> A null V M 1419 1419 missense 0.255 benign 0.23 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1277687298 2q37.1 2 233828733T> G null L R 1420 1420 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs747274442 2q37.1 2 233828735T> G null S A 1421 1421 missense 0.068 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs934556899 2q37.1 2 233828736C> T null S F 1421 1421 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1052443849 2q37.1 2 233828739T> C null L P 1422 1422 missense 0.342 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs201827451 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.1 2 233828741C> T null R C 1423 1423 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28900693 2q37.1 2 233828744G> A null A T 1424 1424 0.01318 missense 0.996 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1360201674 2q37.1 2 233828745C> T null A V 1424 1424 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs759391979 2q37.1 2 233828748T> C null L P 1425 1425 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs769778334 2q37.1 2 233828750G> A null G S 1426 1426 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1022247090 2q37.1 2 233828754A> T null N I 1427 1427 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1022247090 2q37.1 2 233828754A> G null N S 1427 1427 missense 0.436 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1273708693 2q37.1 2 233828759G> A null A T 1429 1429 missense 0.926 probably damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1469802379 2q37.1 2 233828766G> A null G D 1431 1431 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1429990206 2q37.1 2 233828768G> A null A T 1432 1432 missense 0.455 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs774801757 2q37.1 2 233828771C> T null P S 1433 1433 missense 0.662 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs991909370 2q37.1 2 233828891T> A null V E 1436 1436 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1357058851 2q37.1 2 233828896C> T null Q * 1438 1438 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs947777025 2q37.1 2 233828899T> C null Y H 1439 1439 missense 0.048 benign 0.73 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs926769077 2q37.1 2 233828903G> A null R Q 1440 1440 missense 0.656 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1046814215 2q37.1 2 233828902C> T null R W 1440 1440 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1225510677 2q37.1 2 233828908G> T null V F 1442 1442 missense 0.218 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs758475209 2q37.1 2 233828930G> A null G D 1449 1449 missense 0.003 benign 0.59 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1272928169 2q37.1 2 233828929G> A null G S 1449 1449 missense 0.005 benign 0.86 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1282816755 2q37.1 2 233828932C> A null P T 1450 1450 missense 0.091 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs570666107 2q37.1 2 233828941G> T null E * 1453 1453 2.0E-4 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs570666107 2q37.1 2 233828941G> A null E K 1453 1453 2.0E-4 missense 0.199 benign 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs539705331 2q37.1 2 233828947G> A null V M 1455 1455 2.0E-4 missense 0.024 benign 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs777883022 2q37.1 2 233828950A> G null S G 1456 1456 missense 0.076 benign 0.29 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs941625928 2q37.1 2 233828953A> C null N H 1457 1457 missense 0.025 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1161709074 2q37.1 2 233828956A> T null S C 1458 1458 missense 0.012 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1392662363 2q37.1 2 233828957G> A null S N 1458 1458 missense 0.005 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs556489544 2q37.1 2 233828958C> A null S R 1458 1458 2.0E-4 missense 0.003 benign 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs771213950 2q37.1 2 233828960T> G null V G 1459 1459 missense 0.903 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs570012777 2q37.1 2 233828959G> C null V L 1459 1459 3.99E-4 missense 0.463 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs570012777 2q37.1 2 233828959G> A null V M 1459 1459 3.99E-4 missense 0.613 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1444223636 2q37.1 2 233828970G> C null E D 1462 1462 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1037215739 2q37.1 2 233828968G> A null E K 1462 1462 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1301164282 2q37.1 2 233828974A> G null M V 1464 1464 missense 0.255 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs901409298 2q37.1 2 233828981C> A null A D 1466 1466 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs901409298 2q37.1 2 233828981C> T null A V 1466 1466 missense 0.246 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs28900694 2q37.1 2 233828986A> G null T A 1468 1468 0.05291 missense 0.005 benign 0.68 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs769565359 2q37.1 2 233828987C> T null T I 1468 1468 missense 0.03 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1325100570 2q37.1 2 233828991G> C null K N 1469 1469 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs559283358 2q37.1 2 233828990A> G null K R 1469 1469 missense 0.214 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1253000701 2q37.1 2 233829008G> A null R Q 1475 1475 missense 0.119 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs762835634 2q37.1 2 233829007C> T null R W 1475 1475 missense 0.922 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs889903904 2q37.1 2 233829014G> A null G E 1477 1477 missense 0.072 benign 0.71 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1193774116 2q37.1 2 233829013G> T null G W 1477 1477 missense 0.966 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs761552601 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.1 2 233829020T> C null V A 1479 1479 missense 0.296 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs761552601 2q37.1 2 233829020T> G null V G 1479 1479 missense 0.741 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1474199463 2q37.1 2 233829019G> T null V L 1479 1479 missense 0.007 benign 0.26 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1393702208 2q37.1 2 233829028T> C null S P 1482 1482 missense 0.652 possibly damaging 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC rs754103260 2q37.1 2 233829032T> C null F S 1483 1483 missense 0.939 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs540770541 2q37.1 2 233829035A> G null D G 1484 1484 2.0E-4 missense 0.005 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs955830891 2q37.1 2 233829034G> A null D N 1484 1484 missense 0.005 benign 0.21 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1270999432 2q37.1 2 233829037G> A null A T 1485 1485 missense 0.019 benign 0.52 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1231911163 2q37.1 2 233829042G> A null M I 1486 1486 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs567358408 2q37.1 2 233829040A> G null M V 1486 1486 missense 0.0 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1273085217 2q37.1 2 233829043T> A null S T 1487 1487 missense 0.818 possibly damaging 0.85 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1205126614 2q37.1 2 233829055A> G null R G 1491 1491 missense 0.324 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs960904483 2q37.1 2 233829058A> T null I F 1492 1492 missense 0.147 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs374717009 2q37.1 2 233829066C> G null F L 1494 1494 missense 0.605 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1268782439 2q37.1 2 233829067G> C null D H 1495 1495 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1268782439 2q37.1 2 233829067G> A null D N 1495 1495 missense 0.166 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1444783978 2q37.1 2 233829070A> G null N D 1496 1496 missense 0.012 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1281036478 2q37.1 2 233829071A> T null N I 1496 1496 missense 0.738 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs555295527 2q37.1 2 233829620G> A null E K 1497 1497 7.99E-4 missense 0.894 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs550143797 2q37.1 2 233829625C> G null S R 1498 1498 7.99E-4 missense 0.097 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs768778741 2q37.1 2 233829635C> T null R C 1502 1502 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs773931326 2q37.1 2 233829636G> A null R H 1502 1502 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs911518123 2q37.1 2 233829644G> C null A P 1505 1505 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs911518123 2q37.1 2 233829644G> A null A T 1505 1505 missense 0.935 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1433040198 2q37.1 2 233829645C> T null A V 1505 1505 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs936232212 2q37.1 2 233829650A> G null I V 1507 1507 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1186598822 2q37.1 2 233829654T> C null L P 1508 1508 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1417072984 2q37.1 2 233829663A> G null K R 1511 1511 missense 0.019 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs778731540 2q37.1 2 233829672G> A null R K 1514 1514 missense 0.0 benign 0.87 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs778731540 2q37.1 2 233829672G> C null R T 1514 1514 missense 0.003 benign 0.38 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1305460581 2q37.1 2 233829674G> A null V M 1515 1515 missense 0.14 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed rs534354764 2q37.1 2 233829678T> C null V A 1516 1516 2.0E-4 missense 0.18 benign 0.29 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed rs534354764 2q37.1 2 233829678T> G null V G 1516 1516 2.0E-4 missense 0.857 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs267599274 2q37.1 2 233829681G> A null G E 1517 1517 missense 0.296 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs747674739 2q37.1 2 233829680G> A null G R 1517 1517 missense 0.012 benign 0.67 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs267599274 2q37.1 2 233829681G> T null G V 1517 1517 missense 0.652 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1221342399 2q37.1 2 233829684T> C null M T 1518 1518 missense 0.0 benign 0.2 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs772890569 2q37.1 2 233829686T> C null S P 1519 1519 missense 0.048 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1288443975 2q37.1 2 233829695C> G null H D 1522 1522 missense 0.012 benign 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes rs557426644 2q37.1 2 233829696A> G null H R 1522 1522 2.0E-4 missense 0.012 benign 0.38 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs912860222 2q37.1 2 233829698T> C null F L 1523 1523 missense 0.026 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1208194541 2q37.1 2 233829699T> C null F S 1523 1523 missense 0.672 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs917931667 2q37.1 2 233829707G> C null G R 1526 1526 missense 0.37 benign 0.23 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1485870344 2q37.1 2 233829711A> G null E G 1527 1527 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1485870344 2q37.1 2 233829711A> T null E V 1527 1527 missense 0.973 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs949326606 2q37.1 2 233829718G> C null K N 1529 1529 missense 0.741 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1202019731 2q37.1 2 233829717A> G null K R 1529 1529 missense 0.019 benign 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1248288879 2q37.1 2 233829722G> A null A T 1531 1531 missense 0.793 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1455221510 2q37.1 2 233829730C> G null I M 1533 1533 missense 0.738 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1407347246 2q37.1 2 233829729T> C null I T 1533 1533 missense 0.296 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1418392383 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.1 2 233829732C> T null P L 1534 1534 missense 0.719 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1382188174 2q37.1 2 233829734C> G null L V 1535 1535 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1045862158 2q37.1 2 233829737A> C null M L 1536 1536 missense 0.001 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs905145924 2q37.1 2 233829738T> G null M R 1536 1536 missense 0.586 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1183570611 2q37.1 2 233829747C> A null S Y 1539 1539 missense 0.25 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1481458507 2q37.1 2 233831414T> A null C * 1550 1550 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1435075485 2q37.1 2 233831413G> C null C S 1550 1550 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1435075485 2q37.1 2 233831413G> A null C Y 1550 1550 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs559290272 2q37.1 2 233831416T> C null M T 1551 1551 2.0E-4 missense 0.001 benign 0.42 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs11563074 2q37.1 2 233831415A> G null M V 1551 1551 0.004792 missense 0.001 benign 0.61 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1449698480 2q37.1 2 233831418G> A null A T 1552 1552 missense 0.026 benign 0.51 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1274815160 2q37.1 2 233831419C> T null A V 1552 1552 missense 0.042 benign 0.72 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes rs569597708 2q37.1 2 233831422C> A null T N 1553 1553 0.001997 missense 0.982 probably damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1253801182 2q37.1 2 233831428T> G null F C 1555 1555 missense 0.014 benign 0.24 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1462873375 2q37.1 2 233831427T> A null F I 1555 1555 missense 0.023 benign 0.6 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1333943371 2q37.1 2 233831436G> T null V L 1558 1558 missense 0.026 benign 0.25 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1196034993 2q37.1 2 233831440A> G null H R 1559 1559 missense 0.045 benign 0.85 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl,dbSNP rs28900700 2q37.1 2 233831444C> G null F L 1560 1560 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs900487008 2q37.1 2 233831445T> C null W R 1561 1561 missense 0.839 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1392985126 2q37.1 2 233831448G> T null G C 1562 1562 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1392985126 2q37.1 2 233831448G> A null G S 1562 1562 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1324589459 2q37.1 2 233831452G> A null W * 1563 1563 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1324589459 2q37.1 2 233831452G> T null W L 1563 1563 missense 0.038 benign 0.57 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1276010982 2q37.1 2 233831455A> G null K R 1564 1564 missense 0.026 benign 0.54 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1329742484 2q37.1 2 233831460C> G null L V 1566 1566 missense 0.966 probably damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1032893806 2q37.1 2 233831465G> T null E D 1567 1567 missense 0.007 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs948915962 2q37.1 2 233831466C> T null H Y 1568 1568 missense 0.015 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1037833951 2q37.1 2 233831469C> T null P S 1569 1569 missense 0.006 benign 0.55 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1259877633 2q37.1 2 233831476G> A null G E 1571 1571 missense 0.003 benign 0.31 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1332538575 2q37.1 2 233831479C> T null P L 1572 1572 missense 0.102 benign 0.65 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs779026019 2q37.1 2 233831483T> A null S R 1573 1573 missense 0.003 benign 0.39 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1253636154 2q37.1 2 233831485A> G null D G 1574 1574 missense 0.012 benign 0.04 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs879665 2q37.1 2 233831490G> A null A T 1576 1576 0.1929 missense 0.0 benign 0.59 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1429462034 2q37.1 2 233831493A> G null T A 1577 1577 missense 0.001 benign 0.91 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,TOPMed,gnomAD rs114534687 2q37.1 2 233831507G> T null M I 1581 1581 2.0E-4 missense 0.097 benign 0.12 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs879664 2q37.1 2 233831511G> A null V I 1583 1583 0.1016 missense 0.003 benign 0.27 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1166302662 2q37.1 2 233831516C> A null F L 1584 1584 missense 0.073 benign 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1349889158 2q37.1 2 233831519G> T null Q H 1585 1585 missense 0.992 probably damaging 0.1 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1438071422 2q37.1 2 233831521C> T null T I 1586 1586 missense 0.02 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,gnomAD rs552712341 2q37.1 2 233831524C> T null T I 1587 1587 2.0E-4 missense 0.062 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1277244508 2q37.1 2 233831528G> A null M I 1588 1588 missense 0.14 benign 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1279803314 2q37.1 2 233831527T> C null M T 1588 1588 missense 0.216 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1010778360 2q37.1 2 233831526A> G null M V 1588 1588 missense 0.005 benign 0.17 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs796962853 2q37.1 2 233831530G> A null C Y 1589 1589 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs775870534 2q37.1 2 233831538C> A null L M 1592 1592 missense 0.685 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1232530576 2q37.1 2 233831539T> C null L P 1592 1592 missense 0.308 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs966300641 2q37.1 2 233832180C> G null R G 1594 1594 missense 0.005 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs867388660 2q37.1 2 233832181G> A null R Q 1594 1594 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs966300641 2q37.1 2 233832180C> T null R W 1594 1594 missense 0.651 possibly damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs922164827 2q37.1 2 233832190C> T null P L 1597 1597 missense 0.969 probably damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs983674950 2q37.1 2 233832193C> G null A G 1598 1598 missense 0.062 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1559489588 2q37.1 2 233832198C> G null L V 1600 1600 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1278542897 2q37.1 2 233832202A> G null Y C 1601 1601 missense 0.033 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1278542897 2q37.1 2 233832202A> C null Y S 1601 1601 missense 0.096 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs566541482 2q37.1 2 233832204C> T null R C 1602 1602 missense 0.001 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1212093982 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 2q37.1 2 233832205G> A null R H 1602 1602 missense 0.218 benign 0.07 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1469010946 2q37.1 2 233832218A> T null E D 1606 1606 missense 0.168 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1177148407 2q37.1 2 233832229A> G null Y C 1610 1610 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,gnomAD rs558346560 2q37.1 2 233832235A> G null K R 1612 1612 7.99E-4 missense 0.007 benign 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs772698453 2q37.1 2 233832240A> G null N D 1614 1614 missense 0.003 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs866514564 2q37.1 2 233832242C> A null N K 1614 1614 missense 0.091 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs935064343 2q37.1 2 233832249A> G null R G 1617 1617 missense 0.012 benign 0.56 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs1056705822 2q37.1 2 233832250G> A null R K 1617 1617 missense 0.062 benign 0.83 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1488544457 2q37.1 2 233832253T> A null I N 1618 1618 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1285051303 2q37.1 2 233832257A> C null R S 1619 1619 missense 0.757 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1433836541 2q37.1 2 233832259T> C null I T 1620 1620 missense 0.021 benign 0.53 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1373286194 2q37.1 2 233832258A> G null I V 1620 1620 missense 0.012 benign 0.97 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs896301529 2q37.1 2 233832261G> A null A T 1621 1621 missense 0.361 benign 0.05 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1439864447 2q37.1 2 233832265C> T null A V 1622 1622 missense 0.923 probably damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1467851262 2q37.1 2 233832277C> T null A V 1626 1626 missense 0.834 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs758337278 2q37.1 2 233832581A> T null I F 1628 1628 missense 0.205 benign 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs758337278 2q37.1 2 233832581A> C null I L 1628 1628 missense 0.031 benign 0.19 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs746517636 2q37.1 2 233832590A> G null K E 1631 1631 missense 0.012 benign 0.46 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,gnomAD rs548856952 2q37.1 2 233832591A> G null K R 1631 1631 2.0E-4 missense 0.017 benign 0.65 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1259228836 2q37.1 2 233832593C> T null Q * 1632 1632 stop gained 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1235837861 2q37.1 2 233832612T> C null L P 1638 1638 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1235837861 2q37.1 2 233832612T> G null L R 1638 1638 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1450547890 2q37.1 2 233832619G> T null K N 1640 1640 missense 0.045 benign 0.13 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1339864397 2q37.1 2 233832621T> A null L Q 1641 1641 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,gnomAD rs150118531 2q37.1 2 233832620C> G null L V 1641 1641 0.001398 missense 0.309 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1248155117 2q37.1 2 233832627T> A null F Y 1643 1643 missense 0.005 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs780735439 2q37.1 2 233832633C> G null A G 1645 1645 missense 0.012 benign 0.39 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs759635252 2q37.1 2 233832639G> A null R Q 1647 1647 missense 0.021 benign 0.4 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs886411612 2q37.1 2 233832638C> T null R W 1647 1647 missense 0.886 possibly damaging 0.03 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1019061636 2q37.1 2 233832644T> A null S T 1649 1649 missense 0.391 benign 0.33 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs564733816 2q37.1 2 233833152C> G null Q E 1654 1654 missense 0.243 benign 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs544792774 2q37.1 2 233833161C> G null P A 1657 1657 missense 0.007 benign 0.08 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs2270856 2q37.1 2 233833162C> T null P L 1657 1657 0.09904 missense 0.007 benign 0.06 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs544792774 2q37.1 2 233833161C> T null P S 1657 1657 missense 0.006 benign 0.82 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1347928405 2q37.1 2 233833165A> G null D G 1658 1658 missense 0.683 possibly damaging 0.6 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs374751956 2q37.1 2 233833170G> A null G R 1660 1660 missense 0.446 possibly damaging 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1208510626 2q37.1 2 233833177G> A null R K 1662 1662 missense 0.216 benign 0.09 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1424277134 2q37.1 2 233833179A> G null R G 1663 1663 missense 0.007 benign 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,TOPMed,gnomAD rs368351854 2q37.1 2 233833195C> T null T M 1668 1668 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs772493741 2q37.1 2 233833201C> T null T I 1670 1670 missense 0.108 benign 0.02 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1195720448 2q37.1 2 233833203G> A null V I 1671 1671 missense 0.019 benign 0.73 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1382452318 2q37.1 2 233833216G> A null C Y 1675 1675 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs903917999 2q37.1 2 233833221C> A null Q K 1677 1677 missense 0.527 possibly damaging 0.01 deleterious 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs999063388 2q37.1 2 233833225A> G null H R 1678 1678 missense 0.014 benign 0.32 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1433215023 2q37.1 2 233833228G> C null G A 1679 1679 missense 0.01 benign 0.82 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs1053027198 2q37.1 2 233833230T> C null F L 1680 1680 missense 0.0 benign 1.0 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A ExAC,gnomAD rs756686542 2q37.1 2 233833234T> C null L P 1681 1681 missense 0.02 benign 0.11 tolerated 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A Ensembl rs866351769 2q37.1 2 233833236G> A null A T 1682 1682 missense 0.049 benign 0.03 deleterious - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A gnomAD rs1333464916 2q37.1 2 233833240C> T null S L 1683 1683 missense 0.026 benign 0.28 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed rs1265648848 2q37.1 2 233833242C> T null P S 1684 1684 missense 0.044 benign 0.09 tolerated - low confidence 0 A0A087WT58 MROH2A Maestro heat-like repeat-containing protein family member 2A TOPMed,gnomAD rs895916432 2q37.1 2 233833245C> T null Q * 1685 1685 stop gained 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918098 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, [UniProt]: leptomeningeal amyloidosis; leads to unfolding and exposure of N-118 to glycosylation by STT3B and subsequent degradation by the ERAD pathway pubmed:19167329,pubmed:8579098 pubmed:8579098,pubmed:8960746 18q12.1 18 31592939A> G null D G 6 6 missense 1.0 probably damaging 0.01 deleterious 0 AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED ClinVar:RCV000014405 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918098 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, [UniProt]: leptomeningeal amyloidosis; leads to unfolding and exposure of N-118 to glycosylation by STT3B and subsequent degradation by the ERAD pathway pubmed:19167329,pubmed:8579098 pubmed:8579098,pubmed:8960746 18q12.1 18 31592939A> G null D G 6 6 missense 1.0 probably damaging 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000036373 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918098 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, [UniProt]: leptomeningeal amyloidosis; leads to unfolding and exposure of N-118 to glycosylation by STT3B and subsequent degradation by the ERAD pathway pubmed:19167329,pubmed:8579098 pubmed:8579098,pubmed:8960746 18q12.1 18 31592939A> G null D G 6 6 missense 1.0 probably damaging 0.01 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs1567945632 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31592938G> A null D N 6 6 missense 1.0 probably damaging 0.32 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000693117 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs11541795 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31592942C> A null A D 7 7 missense 0.925 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000685149 A0A087WT59 TTR Transthyretin Ensembl rs11541795 18q12.1 18 31592942C> T null A V 7 7 missense 0.804 possibly damaging 0.04 deleterious 0 A0A087WT59 TTR Transthyretin TOPMed,gnomAD rs1258875883 18q12.1 18 31592945T> C null V A 8 8 missense 0.975 probably damaging 0.45 tolerated 0 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs121918093 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: late-onset amyloid polyneuropathy with carpal tunnel syndrome pubmed:17503405,pubmed:8990019 pubmed:8692810,pubmed:9017939 18q12.1 18 31592944G> A null V I 8 8 missense 0.973 probably damaging 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014397 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs121918093 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: late-onset amyloid polyneuropathy with carpal tunnel syndrome pubmed:17503405,pubmed:8990019 pubmed:8692810,pubmed:9017939 18q12.1 18 31592944G> A null V I 8 8 missense 0.973 probably damaging 0.01 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin gnomAD rs121918093 18q12.1 18 31592944G> C null V L 8 8 missense 0.961 probably damaging 0.04 deleterious 0 A0A087WT59 TTR Transthyretin TOPMed,gnomAD rs1004021945 18q12.1 18 31592947C> T null R * 9 9 stop gained 0 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs748604974 18q12.1 18 31592951G> A null G D 10 10 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT59 TTR Transthyretin TOPMed,gnomAD rs11541800 18q12.1 18 31592953A> G null S G 11 11 missense 0.06 benign 0.02 deleterious 0 A0A087WT59 TTR Transthyretin TOPMed,dbSNP,gnomAD rs11541800 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31592953A> C null S R 11 11 missense 0.045 benign 0.08 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000795071 A0A087WT59 TTR Transthyretin TOPMed rs1415606768 18q12.1 18 31592957C> T null P L 12 12 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT59 TTR Transthyretin TOPMed,dbSNP rs11541790 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:17503405 18q12.1 18 31592956C> T null P S 12 12 missense 0.897 possibly damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000560691 A0A087WT59 TTR Transthyretin TOPMed,dbSNP rs11541790 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:17503405 18q12.1 18 31592956C> T null P S 12 12 missense 0.897 possibly damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs104894664 [ClinVar]: Amyloidogenic transthyretin amyloidosis pubmed:6099706 18q12.1 18 31592959G> A null A T 13 13 missense 0.995 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014379 A0A087WT59 TTR Transthyretin ExAC,dbSNP,gnomAD rs773584864 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31592962A> G null I V 14 14 missense 0.0 benign 0.53 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000796860 A0A087WT59 TTR Transthyretin TOPMed rs1252826226 18q12.1 18 31592967T> G null N K 15 15 missense 0.146 benign 0.13 tolerated 0 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs145551875 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31592966A> G null N S 15 15 missense 0.015 benign 0.21 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000228167 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,gnomAD rs145551875 18q12.1 18 31592966A> C null N T 15 15 missense 0.3 benign 0.06 tolerated 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs79977247 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:1544214,pubmed:17503405 pubmed:1544214,pubmed:1850191 18q12.1 18 31592975T> C null V A 18 18 missense 0.223 benign 0.02 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014372 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs79977247 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:1544214,pubmed:17503405 pubmed:1544214,pubmed:1850191 18q12.1 18 31592975T> C null V A 18 18 missense 0.223 benign 0.02 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs79977247 [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED pubmed:9066351 pubmed:7417777,pubmed:9066351 18q12.1 18 31592975T> G null V G 18 18 missense 0.928 probably damaging 0.0 deleterious 0 AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED ClinVar:RCV000014407 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs79977247 [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED pubmed:9066351 pubmed:7417777,pubmed:9066351 18q12.1 18 31592975T> G null V G 18 18 missense 0.928 probably damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs28933979 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [ClinVar]: Charcot-Marie-Tooth disease pubmed:10611950,pubmed:1520326 pubmed:1520326,pubmed:9843084 18q12.1 18 31592974G> C null V L 18 18 missense 0.075 benign 0.86 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014382 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs28933979 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [ClinVar]: Charcot-Marie-Tooth disease pubmed:10611950,pubmed:1520326 pubmed:1520326,pubmed:9843084 18q12.1 18 31592974G> C null V L 18 18 missense 0.075 benign 0.86 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs28933979 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [ClinVar]: Charcot-Marie-Tooth disease pubmed:10611950,pubmed:1520326 pubmed:1520326,pubmed:9843084 18q12.1 18 31592974G> C null V L 18 18 missense 0.075 benign 0.86 tolerated 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173291 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs28933979 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy, [ClinVar]: Carpal tunnel syndrome, [UniProt]: amyloid polyneuropathy; by far the most frequent mutation pubmed:12050338,pubmed:1517749,pubmed:17503405,pubmed:3022108,pubmed:3818577,pubmed:6583672,pubmed:6651852,pubmed:7655883,pubmed:8382610,pubmed:8428915 pubmed:10453736,pubmed:10465115,pubmed:10506096,pubmed:11709003,pubmed:12050338,pubmed:12433265,pubmed:12566023,pubmed:12617705,pubmed:1353008,pubmed:14673473,pubmed:1490495,pubmed:1547960,pubmed:15523922,pubmed:1570831,pubmed:15930086,pubmed:18460047,pubmed:1867256,pubmed:18863976,pubmed:192115,pubmed:1977686,pubmed:1997217,pubmed:2237288,pubmed:2564060,pubmed:2624269,pubmed:2714785,pubmed:2856994,pubmed:2857043,pubmed:2896079,pubmed:3011930,pubmed:3022107,pubmed:3022108,pubmed:3022697,pubmed:3229002,pubmed:3457802,pubmed:3479441,pubmed:3908483,pubmed:4079954,pubmed:4138132,pubmed:4354899,pubmed:5507249,pubmed:5652991,pubmed:5799493,pubmed:6087811,pubmed:6100724,pubmed:6208668,pubmed:6311926,pubmed:6549130,pubmed:6583672,pubmed:6651852,pubmed:6782125,pubmed:7389759,pubmed:7839813,pubmed:8064809,pubmed:8100581,pubmed:8194279,pubmed:8563114,pubmed:8778271,pubmed:8857732,pubmed:9215058,pubmed:9475090 18q12.1 18 31592974G> A null V M 18 18 missense 0.96 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014359,ClinVar:RCV000763026 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs28933979 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy, [ClinVar]: Carpal tunnel syndrome, [UniProt]: amyloid polyneuropathy; by far the most frequent mutation pubmed:12050338,pubmed:1517749,pubmed:17503405,pubmed:3022108,pubmed:3818577,pubmed:6583672,pubmed:6651852,pubmed:7655883,pubmed:8382610,pubmed:8428915 pubmed:10453736,pubmed:10465115,pubmed:10506096,pubmed:11709003,pubmed:12050338,pubmed:12433265,pubmed:12566023,pubmed:12617705,pubmed:1353008,pubmed:14673473,pubmed:1490495,pubmed:1547960,pubmed:15523922,pubmed:1570831,pubmed:15930086,pubmed:18460047,pubmed:1867256,pubmed:18863976,pubmed:192115,pubmed:1977686,pubmed:1997217,pubmed:2237288,pubmed:2564060,pubmed:2624269,pubmed:2714785,pubmed:2856994,pubmed:2857043,pubmed:2896079,pubmed:3011930,pubmed:3022107,pubmed:3022108,pubmed:3022697,pubmed:3229002,pubmed:3457802,pubmed:3479441,pubmed:3908483,pubmed:4079954,pubmed:4138132,pubmed:4354899,pubmed:5507249,pubmed:5652991,pubmed:5799493,pubmed:6087811,pubmed:6100724,pubmed:6208668,pubmed:6311926,pubmed:6549130,pubmed:6583672,pubmed:6651852,pubmed:6782125,pubmed:7389759,pubmed:7839813,pubmed:8064809,pubmed:8100581,pubmed:8194279,pubmed:8563114,pubmed:8778271,pubmed:8857732,pubmed:9215058,pubmed:9475090 18q12.1 18 31592974G> A null V M 18 18 missense 0.96 probably damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs28933979 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy, [ClinVar]: Carpal tunnel syndrome, [UniProt]: amyloid polyneuropathy; by far the most frequent mutation pubmed:12050338,pubmed:1517749,pubmed:17503405,pubmed:3022108,pubmed:3818577,pubmed:6583672,pubmed:6651852,pubmed:7655883,pubmed:8382610,pubmed:8428915 pubmed:10453736,pubmed:10465115,pubmed:10506096,pubmed:11709003,pubmed:12050338,pubmed:12433265,pubmed:12566023,pubmed:12617705,pubmed:1353008,pubmed:14673473,pubmed:1490495,pubmed:1547960,pubmed:15523922,pubmed:1570831,pubmed:15930086,pubmed:18460047,pubmed:1867256,pubmed:18863976,pubmed:192115,pubmed:1977686,pubmed:1997217,pubmed:2237288,pubmed:2564060,pubmed:2624269,pubmed:2714785,pubmed:2856994,pubmed:2857043,pubmed:2896079,pubmed:3011930,pubmed:3022107,pubmed:3022108,pubmed:3022697,pubmed:3229002,pubmed:3457802,pubmed:3479441,pubmed:3908483,pubmed:4079954,pubmed:4138132,pubmed:4354899,pubmed:5507249,pubmed:5652991,pubmed:5799493,pubmed:6087811,pubmed:6100724,pubmed:6208668,pubmed:6311926,pubmed:6549130,pubmed:6583672,pubmed:6651852,pubmed:6782125,pubmed:7389759,pubmed:7839813,pubmed:8064809,pubmed:8100581,pubmed:8194279,pubmed:8563114,pubmed:8778271,pubmed:8857732,pubmed:9215058,pubmed:9475090 18q12.1 18 31592974G> A null V M 18 18 missense 0.96 probably damaging 0.0 deleterious 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770555 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs28933979 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy, [ClinVar]: Carpal tunnel syndrome, [UniProt]: amyloid polyneuropathy; by far the most frequent mutation pubmed:12050338,pubmed:1517749,pubmed:17503405,pubmed:3022108,pubmed:3818577,pubmed:6583672,pubmed:6651852,pubmed:7655883,pubmed:8382610,pubmed:8428915 pubmed:10453736,pubmed:10465115,pubmed:10506096,pubmed:11709003,pubmed:12050338,pubmed:12433265,pubmed:12566023,pubmed:12617705,pubmed:1353008,pubmed:14673473,pubmed:1490495,pubmed:1547960,pubmed:15523922,pubmed:1570831,pubmed:15930086,pubmed:18460047,pubmed:1867256,pubmed:18863976,pubmed:192115,pubmed:1977686,pubmed:1997217,pubmed:2237288,pubmed:2564060,pubmed:2624269,pubmed:2714785,pubmed:2856994,pubmed:2857043,pubmed:2896079,pubmed:3011930,pubmed:3022107,pubmed:3022108,pubmed:3022697,pubmed:3229002,pubmed:3457802,pubmed:3479441,pubmed:3908483,pubmed:4079954,pubmed:4138132,pubmed:4354899,pubmed:5507249,pubmed:5652991,pubmed:5799493,pubmed:6087811,pubmed:6100724,pubmed:6208668,pubmed:6311926,pubmed:6549130,pubmed:6583672,pubmed:6651852,pubmed:6782125,pubmed:7389759,pubmed:7839813,pubmed:8064809,pubmed:8100581,pubmed:8194279,pubmed:8563114,pubmed:8778271,pubmed:8857732,pubmed:9215058,pubmed:9475090 18q12.1 18 31592974G> A null V M 18 18 missense 0.96 probably damaging 0.0 deleterious 0 Carpal tunnel syndrome (CTS1) Carpal tunnel syndrome is a disorder caused by disturbances in nerve function (neuropathy), leading to pain and numbness or tingling (paresthesia) primarily in the wrist and hand. MIM:115430 ClinVar:RCV000763026 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs28933979 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy, [ClinVar]: Carpal tunnel syndrome, [UniProt]: amyloid polyneuropathy; by far the most frequent mutation pubmed:12050338,pubmed:1517749,pubmed:17503405,pubmed:3022108,pubmed:3818577,pubmed:6583672,pubmed:6651852,pubmed:7655883,pubmed:8382610,pubmed:8428915 pubmed:10453736,pubmed:10465115,pubmed:10506096,pubmed:11709003,pubmed:12050338,pubmed:12433265,pubmed:12566023,pubmed:12617705,pubmed:1353008,pubmed:14673473,pubmed:1490495,pubmed:1547960,pubmed:15523922,pubmed:1570831,pubmed:15930086,pubmed:18460047,pubmed:1867256,pubmed:18863976,pubmed:192115,pubmed:1977686,pubmed:1997217,pubmed:2237288,pubmed:2564060,pubmed:2624269,pubmed:2714785,pubmed:2856994,pubmed:2857043,pubmed:2896079,pubmed:3011930,pubmed:3022107,pubmed:3022108,pubmed:3022697,pubmed:3229002,pubmed:3457802,pubmed:3479441,pubmed:3908483,pubmed:4079954,pubmed:4138132,pubmed:4354899,pubmed:5507249,pubmed:5652991,pubmed:5799493,pubmed:6087811,pubmed:6100724,pubmed:6208668,pubmed:6311926,pubmed:6549130,pubmed:6583672,pubmed:6651852,pubmed:6782125,pubmed:7389759,pubmed:7839813,pubmed:8064809,pubmed:8100581,pubmed:8194279,pubmed:8563114,pubmed:8778271,pubmed:8857732,pubmed:9215058,pubmed:9475090 18q12.1 18 31592974G> A null V M 18 18 missense 0.96 probably damaging 0.0 deleterious 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173292 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs28933979 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy, [ClinVar]: Carpal tunnel syndrome, [UniProt]: amyloid polyneuropathy; by far the most frequent mutation pubmed:12050338,pubmed:1517749,pubmed:17503405,pubmed:3022108,pubmed:3818577,pubmed:6583672,pubmed:6651852,pubmed:7655883,pubmed:8382610,pubmed:8428915 pubmed:10453736,pubmed:10465115,pubmed:10506096,pubmed:11709003,pubmed:12050338,pubmed:12433265,pubmed:12566023,pubmed:12617705,pubmed:1353008,pubmed:14673473,pubmed:1490495,pubmed:1547960,pubmed:15523922,pubmed:1570831,pubmed:15930086,pubmed:18460047,pubmed:1867256,pubmed:18863976,pubmed:192115,pubmed:1977686,pubmed:1997217,pubmed:2237288,pubmed:2564060,pubmed:2624269,pubmed:2714785,pubmed:2856994,pubmed:2857043,pubmed:2896079,pubmed:3011930,pubmed:3022107,pubmed:3022108,pubmed:3022697,pubmed:3229002,pubmed:3457802,pubmed:3479441,pubmed:3908483,pubmed:4079954,pubmed:4138132,pubmed:4354899,pubmed:5507249,pubmed:5652991,pubmed:5799493,pubmed:6087811,pubmed:6100724,pubmed:6208668,pubmed:6311926,pubmed:6549130,pubmed:6583672,pubmed:6651852,pubmed:6782125,pubmed:7389759,pubmed:7839813,pubmed:8064809,pubmed:8100581,pubmed:8194279,pubmed:8563114,pubmed:8778271,pubmed:8857732,pubmed:9215058,pubmed:9475090 18q12.1 18 31592974G> A null V M 18 18 missense 0.96 probably damaging 0.0 deleterious 0 Dystransthyretinemic euthyroidal hyperthyroxinemia (DTTRH) MIM:145680 ClinVar:RCV000763026 A0A087WT59 TTR Transthyretin TOPMed rs915983905 18q12.1 18 31592977C> A null H N 19 19 missense 0.0 benign 0.12 tolerated 0 A0A087WT59 TTR Transthyretin TOPMed,gnomAD rs1381337412 18q12.1 18 31592978A> C null H P 19 19 missense 0.069 benign 0.02 deleterious 0 A0A087WT59 TTR Transthyretin TOPMed rs915983905 18q12.1 18 31592977C> T null H Y 19 19 missense 0.147 benign 0.0 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918068 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: Jewish 'SKO' amyloid polyneuropathy pubmed:6487335,pubmed:8019560 pubmed:2981253,pubmed:6168726,pubmed:6300852,pubmed:6487335,pubmed:8095301 18q12.1 18 31592983T> A null F I 21 21 missense 0.601 possibly damaging 0.04 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014360 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918068 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: Jewish 'SKO' amyloid polyneuropathy pubmed:6487335,pubmed:8019560 pubmed:2981253,pubmed:6168726,pubmed:6300852,pubmed:6487335,pubmed:8095301 18q12.1 18 31592983T> A null F I 21 21 missense 0.601 possibly damaging 0.04 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918068 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:12050338,pubmed:17503405,pubmed:1932142,pubmed:2046936 pubmed:1932142,pubmed:2046936,pubmed:9798666 18q12.1 18 31592983T> C null F L 21 21 missense 0.3 benign 0.17 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014398 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918068 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:12050338,pubmed:17503405,pubmed:1932142,pubmed:2046936 pubmed:1932142,pubmed:2046936,pubmed:9798666 18q12.1 18 31592983T> C null F L 21 21 missense 0.3 benign 0.17 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC rs776687660 18q12.1 18 31592990A> T null K M 23 23 missense 0.581 possibly damaging 0.04 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs1567945684 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31592991G> T null K N 23 23 missense 0.525 possibly damaging 0.15 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000699004 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918077 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:17503405 18q12.1 18 31592992G> C null A P 24 24 missense 0.801 possibly damaging 0.27 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014374 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918077 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:17503405 18q12.1 18 31592992G> C null A P 24 24 missense 0.801 possibly damaging 0.27 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin TOPMed,gnomAD rs1294297409 18q12.1 18 31592996C> A null A D 25 25 missense 0.072 benign 0.12 tolerated 0 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs1380447419 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31592995G> A null A T 25 25 missense 0.485 possibly damaging 0.14 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000647354 A0A087WT59 TTR Transthyretin Ensembl rs113625622 18q12.1 18 31593005C> T null T I 28 28 missense 0.589 possibly damaging 0.16 tolerated 0 A0A087WT59 TTR Transthyretin Ensembl rs1567945702 18q12.1 18 31593008G> A null W * 29 29 stop gained 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs11541796 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:10036587,pubmed:2363717,pubmed:7923855 pubmed:1353861,pubmed:2363717 18q12.1 18 31593011A> G null E G 30 30 missense 0.684 possibly damaging 0.07 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014370 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs11541796 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:10036587,pubmed:2363717,pubmed:7923855 pubmed:1353861,pubmed:2363717 18q12.1 18 31593011A> G null E G 30 30 missense 0.684 possibly damaging 0.07 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl rs1803083 18q12.1 18 31593013C> G null P A 31 31 missense 0.003 benign 0.73 tolerated 0 A0A087WT59 TTR Transthyretin Ensembl rs1803083 18q12.1 18 31593013C> T null P S 31 31 missense 0.065 benign 0.71 tolerated 0 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138065384 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease 18q12.1 18 31593016T> C null F L 32 32 2.0E-4 missense 0.031 benign 1.0 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000474349 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138065384 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease 18q12.1 18 31593016T> C null F L 32 32 2.0E-4 missense 0.031 benign 1.0 tolerated 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173294 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs104894665 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED pubmed:11866053,pubmed:9818883 pubmed:10488818,pubmed:11812437,pubmed:3178532,pubmed:9818883 18q12.1 18 31593017T> C null F S 32 32 missense 0.958 probably damaging 0.0 deleterious 0 AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED ClinVar:RCV000014406 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs104894665 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED pubmed:11866053,pubmed:9818883 pubmed:10488818,pubmed:11812437,pubmed:3178532,pubmed:9818883 18q12.1 18 31593017T> C null F S 32 32 missense 0.958 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014403 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs104894665 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED pubmed:11866053,pubmed:9818883 pubmed:10488818,pubmed:11812437,pubmed:3178532,pubmed:9818883 18q12.1 18 31593017T> C null F S 32 32 missense 0.958 probably damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs730881169 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid cardiomyopathy 18q12.1 18 31593020C> A null A D 33 33 missense 0.938 probably damaging 0.05 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV001228889 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs730881169 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid cardiomyopathy 18q12.1 18 31593020C> A null A D 33 33 missense 0.938 probably damaging 0.05 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918078 [UniProt]: amyloid cardiomyopathy pubmed:1570831,pubmed:17503405 18q12.1 18 31593019G> A null A T 33 33 missense 0.56 possibly damaging 0.32 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs730881169 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31593020C> T null A V 33 33 missense 0.86 possibly damaging 0.02 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV001054408 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918090 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:17503405 pubmed:10845569,pubmed:7951260 18q12.1 18 31593026G> C null G A 35 35 missense 0.744 possibly damaging 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014393 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918090 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:17503405 pubmed:10845569,pubmed:7951260 18q12.1 18 31593026G> C null G A 35 35 missense 0.744 possibly damaging 0.01 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs387906523 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:1734866 pubmed:10845569 18q12.1 18 31593025G> A null G R 35 35 missense 0.988 probably damaging 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014401 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs387906523 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:1734866 pubmed:10845569 18q12.1 18 31593025G> A null G R 35 35 missense 0.988 probably damaging 0.01 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs387906523 [ClinVar]: Amyloidogenic transthyretin amyloidosis pubmed:10845569,pubmed:1734866 18q12.1 18 31593025G> C null G R 35 35 missense 0.988 probably damaging 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014378 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs1555631387 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31595125C> G null T S 37 37 missense 0.99 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000647353 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs386134269 18q12.1 18 31595127A> G null S G 38 38 missense 0.003 benign 0.17 tolerated 0 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs121918080 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid cardiomyopathy pubmed:1520336 pubmed:1520336,pubmed:1644201 18q12.1 18 31595128G> T null S I 38 38 missense 0.622 possibly damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014381 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs121918080 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid cardiomyopathy pubmed:1520336 pubmed:1520336,pubmed:1644201 18q12.1 18 31595128G> T null S I 38 38 missense 0.622 possibly damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs121918080 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31595128G> A null S N 38 38 missense 0.0 benign 1.0 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV001048624 A0A087WT59 TTR Transthyretin TOPMed,dbSNP rs121918076 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31595129T> A null S R 38 38 missense 0.586 possibly damaging 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000030572 A0A087WT59 TTR Transthyretin TOPMed,dbSNP rs121918076 [ClinVar]: Amyloidogenic transthyretin amyloidosis pubmed:1335038,pubmed:2363717 18q12.1 18 31595129T> G null S R 38 38 missense 0.586 possibly damaging 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014371 A0A087WT59 TTR Transthyretin ExAC,dbSNP,gnomAD rs386134269 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:10611950,pubmed:23317988,pubmed:2363717,pubmed:7655883 18q12.1 18 31595127A> C null S R 38 38 missense 0.586 possibly damaging 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000030571 A0A087WT59 TTR Transthyretin ExAC,dbSNP,gnomAD rs386134269 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:10611950,pubmed:23317988,pubmed:2363717,pubmed:7655883 18q12.1 18 31595127A> C null S R 38 38 missense 0.586 possibly damaging 0.01 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin gnomAD rs1335700058 18q12.1 18 31595131A> C null E A 39 39 missense 0.057 benign 0.41 tolerated 0 A0A087WT59 TTR Transthyretin Ensembl rs933476040 18q12.1 18 31595130G> A null E K 39 39 missense 0.013 benign 0.24 tolerated 0 A0A087WT59 TTR Transthyretin 1000Genomes,ExAC,gnomAD rs577168116 18q12.1 18 31595134C> A null S Y 40 40 2.0E-4 missense 0.007 benign 1.0 tolerated 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918097 [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED pubmed:11445644 pubmed:11445644 18q12.1 18 31595137G> A null G E 41 41 missense 0.97 probably damaging 0.0 deleterious 0 AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED ClinVar:RCV000014404 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918097 [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED pubmed:11445644 pubmed:11445644 18q12.1 18 31595137G> A null G E 41 41 missense 0.97 probably damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs879254269 cosmic curated [ClinVar]: Amyloidogenic transthyretin amyloidosis, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carpal tunnel syndrome cosmic_study:419 18q12.1 18 31592948G> A null R Q 41 41 missense 0.06 benign 0.3 tolerated 1 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000661976 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs879254269 cosmic curated [ClinVar]: Amyloidogenic transthyretin amyloidosis, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carpal tunnel syndrome cosmic_study:419 18q12.1 18 31592948G> A null R Q 41 41 missense 0.06 benign 0.3 tolerated 1 Carpal tunnel syndrome (CTS1) Carpal tunnel syndrome is a disorder caused by disturbances in nerve function (neuropathy), leading to pain and numbness or tingling (paresthesia) primarily in the wrist and hand. MIM:115430 ClinVar:RCV000661977 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs1555631393 18q12.1 18 31595139G> C null E Q 42 42 missense 0.976 probably damaging 0.05 tolerated 0 A0A087WT59 TTR Transthyretin Ensembl rs730881168 18q12.1 18 31595139_31595140in v null E S 42 42 missense 0.979 probably damaging 0.01 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918079 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:1351039,pubmed:16627944,pubmed:7910950,pubmed:9733771 pubmed:14404854,pubmed:4952599,pubmed:7018469,pubmed:7910950,pubmed:8218290,pubmed:8990019 18q12.1 18 31595143T> C null L P 43 43 missense 0.951 probably damaging 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014380 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918079 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:1351039,pubmed:16627944,pubmed:7910950,pubmed:9733771 pubmed:14404854,pubmed:4952599,pubmed:7018469,pubmed:7910950,pubmed:8218290,pubmed:8990019 18q12.1 18 31595143T> C null L P 43 43 missense 0.951 probably damaging 0.01 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin TOPMed,gnomAD rs78230119 18q12.1 18 31595146A> G null H R 44 44 missense 0.622 possibly damaging 0.87 tolerated 0 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs1803084 18q12.1 18 31595145C> T null H Y 44 44 missense 0.982 probably damaging 0.07 tolerated 0 A0A087WT59 TTR Transthyretin TOPMed,dbSNP rs121918069 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:15217993 pubmed:11261421,pubmed:13367520,pubmed:13593935,pubmed:14404854,pubmed:1729888,pubmed:19644733,pubmed:2360796,pubmed:2613237,pubmed:4884226,pubmed:4952599,pubmed:7018469,pubmed:8990019 18q12.1 18 31595152T> A null L H 46 46 missense 0.999 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014362 A0A087WT59 TTR Transthyretin TOPMed,dbSNP rs121918069 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:15217993 pubmed:11261421,pubmed:13367520,pubmed:13593935,pubmed:14404854,pubmed:1729888,pubmed:19644733,pubmed:2360796,pubmed:2613237,pubmed:4884226,pubmed:4952599,pubmed:7018469,pubmed:8990019 18q12.1 18 31595152T> A null L H 46 46 missense 0.999 probably damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin TOPMed,dbSNP rs121918069 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:1656975 pubmed:1656975 18q12.1 18 31595152T> G null L R 46 46 missense 0.997 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014377 A0A087WT59 TTR Transthyretin TOPMed,dbSNP rs121918069 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:1656975 pubmed:1656975 18q12.1 18 31595152T> G null L R 46 46 missense 0.997 probably damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC,TOPMed,gnomAD rs770389488 18q12.1 18 31595154A> G null T A 47 47 missense 0.09 benign 0.35 tolerated 0 A0A087WT59 TTR Transthyretin TOPMed,dbSNP,gnomAD rs121918070 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy and cardiomyopathy, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy pubmed:12050338,pubmed:15217993,pubmed:17503405,pubmed:7655883 pubmed:12050338,pubmed:1626556,pubmed:1664269,pubmed:2122246,pubmed:2840822,pubmed:2981253,pubmed:3676699,pubmed:3722385,pubmed:4079954 18q12.1 18 31595157A> G null T A 48 48 missense 0.044 benign 0.03 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014363 A0A087WT59 TTR Transthyretin TOPMed,dbSNP,gnomAD rs121918070 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy and cardiomyopathy, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy pubmed:12050338,pubmed:15217993,pubmed:17503405,pubmed:7655883 pubmed:12050338,pubmed:1626556,pubmed:1664269,pubmed:2122246,pubmed:2840822,pubmed:2981253,pubmed:3676699,pubmed:3722385,pubmed:4079954 18q12.1 18 31595157A> G null T A 48 48 missense 0.044 benign 0.03 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin TOPMed,dbSNP,gnomAD rs121918070 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy and cardiomyopathy, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy pubmed:12050338,pubmed:15217993,pubmed:17503405,pubmed:7655883 pubmed:12050338,pubmed:1626556,pubmed:1664269,pubmed:2122246,pubmed:2840822,pubmed:2981253,pubmed:3676699,pubmed:3722385,pubmed:4079954 18q12.1 18 31595157A> G null T A 48 48 missense 0.044 benign 0.03 deleterious 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000852477 A0A087WT59 TTR Transthyretin TOPMed,dbSNP,gnomAD rs121918070 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy and cardiomyopathy, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy pubmed:12050338,pubmed:15217993,pubmed:17503405,pubmed:7655883 pubmed:12050338,pubmed:1626556,pubmed:1664269,pubmed:2122246,pubmed:2840822,pubmed:2981253,pubmed:3676699,pubmed:3722385,pubmed:4079954 18q12.1 18 31595157A> G null T A 48 48 missense 0.044 benign 0.03 deleterious 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173293 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs1567946170 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31595161A> G null E G 49 49 missense 0.368 benign 0.06 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000693859 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918086 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:8352764 pubmed:8352764 18q12.1 18 31595160G> A null E K 49 49 missense 0.02 benign 0.66 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014389 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918086 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:8352764 pubmed:8352764 18q12.1 18 31595160G> A null E K 49 49 missense 0.02 benign 0.66 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs754635255 18q12.1 18 31595165G> C null E D 50 50 missense 0.012 benign 0.21 tolerated 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs1555631402 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31595163G> A null E K 50 50 missense 0.194 benign 0.08 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000587406 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs121918091 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [ClinVar]: Carpal tunnel syndrome pubmed:11866053,pubmed:17503405,pubmed:2046936 pubmed:2046936,pubmed:8721565 18q12.1 18 31595169T> C null F L 52 52 missense 0.823 possibly damaging 0.02 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014395,ClinVar:RCV000763027 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs121918091 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [ClinVar]: Carpal tunnel syndrome pubmed:11866053,pubmed:17503405,pubmed:2046936 pubmed:2046936,pubmed:8721565 18q12.1 18 31595169T> C null F L 52 52 missense 0.823 possibly damaging 0.02 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs121918091 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [ClinVar]: Carpal tunnel syndrome pubmed:11866053,pubmed:17503405,pubmed:2046936 pubmed:2046936,pubmed:8721565 18q12.1 18 31595169T> C null F L 52 52 missense 0.823 possibly damaging 0.02 deleterious 0 Carpal tunnel syndrome (CTS1) Carpal tunnel syndrome is a disorder caused by disturbances in nerve function (neuropathy), leading to pain and numbness or tingling (paresthesia) primarily in the wrist and hand. MIM:115430 ClinVar:RCV000763027 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs121918091 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [ClinVar]: Carpal tunnel syndrome pubmed:11866053,pubmed:17503405,pubmed:2046936 pubmed:2046936,pubmed:8721565 18q12.1 18 31595169T> C null F L 52 52 missense 0.823 possibly damaging 0.02 deleterious 0 Dystransthyretinemic euthyroidal hyperthyroxinemia (DTTRH) MIM:145680 ClinVar:RCV000763027 A0A087WT59 TTR Transthyretin Ensembl rs121918099 18q12.1 18 31595170T> C null F S 52 52 missense 0.86 possibly damaging 0.0 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl rs11541799 18q12.1 18 31595178G> A null G R 55 55 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs121918085 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid cardiomyopathy pubmed:17503405,pubmed:8038017 pubmed:8038017 18q12.1 18 31595181A> T null I L 56 56 missense 0.001 benign 0.27 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014388 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs121918085 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid cardiomyopathy pubmed:17503405,pubmed:8038017 pubmed:8038017 18q12.1 18 31595181A> T null I L 56 56 missense 0.001 benign 0.27 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs1567946180 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31595182T> C null I T 56 56 missense 0.019 benign 0.3 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000693587 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs752304732 18q12.1 18 31595185A> G null Y C 57 57 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918100 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: leptomeningeal amyloidosis; vitreous amyloid in some patients, [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED pubmed:12771253 pubmed:12771253 18q12.1 18 31595184T> C null Y H 57 57 missense 0.996 probably damaging 0.0 deleterious 0 AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED ClinVar:RCV000014408 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918100 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: leptomeningeal amyloidosis; vitreous amyloid in some patients, [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED pubmed:12771253 pubmed:12771253 18q12.1 18 31595184T> C null Y H 57 57 missense 0.996 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000586493 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918100 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: leptomeningeal amyloidosis; vitreous amyloid in some patients, [ClinVar]: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED pubmed:12771253 pubmed:12771253 18q12.1 18 31595184T> C null Y H 57 57 missense 0.996 probably damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs267607160 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:1436517 pubmed:1436517 18q12.1 18 31595189A> C null K N 58 58 missense 0.892 possibly damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014385 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs267607160 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:1436517 pubmed:1436517 18q12.1 18 31595189A> C null K N 58 58 missense 0.892 possibly damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs778412314 18q12.1 18 31595187A> C null K Q 58 58 missense 0.488 possibly damaging 0.0 deleterious 0 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs1340627860 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 18q12.1 18 31593012G> T null E D 62 62 missense 0.025 benign 0.16 tolerated 0 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs730881164 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Carpal tunnel syndrome 18q12.1 18 31595199G> C null D H 62 62 missense 0.983 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000647355,ClinVar:RCV000765411 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs730881164 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Carpal tunnel syndrome 18q12.1 18 31595199G> C null D H 62 62 missense 0.983 probably damaging 0.0 deleterious 0 Carpal tunnel syndrome (CTS1) Carpal tunnel syndrome is a disorder caused by disturbances in nerve function (neuropathy), leading to pain and numbness or tingling (paresthesia) primarily in the wrist and hand. MIM:115430 ClinVar:RCV000765411 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs730881164 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Carpal tunnel syndrome 18q12.1 18 31595199G> C null D H 62 62 missense 0.983 probably damaging 0.0 deleterious 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173300 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs730881164 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Carpal tunnel syndrome 18q12.1 18 31595199G> C null D H 62 62 missense 0.983 probably damaging 0.0 deleterious 0 Dystransthyretinemic euthyroidal hyperthyroxinemia (DTTRH) MIM:145680 ClinVar:RCV000765411 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs730881170 18q12.1 18 31595202A> T null T S 63 63 missense 0.206 benign 0.04 deleterious 0 A0A087WT59 TTR Transthyretin TOPMed rs1197116703 18q12.1 18 31595207A> T null K N 64 64 missense 0.765 possibly damaging 0.29 tolerated 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918071 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [ClinVar]: Charcot-Marie-Tooth disease pubmed:15217993,pubmed:17503405,pubmed:2891727,pubmed:7655883 pubmed:1981182,pubmed:2840822,pubmed:2877582,pubmed:2891727,pubmed:9771673 18q12.1 18 31595209C> A null S Y 65 65 missense 0.415 benign 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014364 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918071 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [ClinVar]: Charcot-Marie-Tooth disease pubmed:15217993,pubmed:17503405,pubmed:2891727,pubmed:7655883 pubmed:1981182,pubmed:2840822,pubmed:2877582,pubmed:2891727,pubmed:9771673 18q12.1 18 31595209C> A null S Y 65 65 missense 0.415 benign 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918071 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [ClinVar]: Charcot-Marie-Tooth disease pubmed:15217993,pubmed:17503405,pubmed:2891727,pubmed:7655883 pubmed:1981182,pubmed:2840822,pubmed:2877582,pubmed:2891727,pubmed:9771673 18q12.1 18 31595209C> A null S Y 65 65 missense 0.415 benign 0.0 deleterious 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173289 A0A087WT59 TTR Transthyretin TOPMed,dbSNP rs958191819 pubmed:16627944,pubmed:17503405 18q12.1 18 31595212A> T null Y F 66 66 missense 0.697 possibly damaging 0.04 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs730881171 18q12.1 18 31595215G> A null W * 67 67 stop gained 0 A0A087WT59 TTR Transthyretin Ensembl rs1804117 18q12.1 18 31595217A> G null K E 68 68 missense 0.217 benign 0.24 tolerated 0 A0A087WT59 TTR Transthyretin Ensembl,NCI-TCGA,dbSNP rs121918081 cosmic curated [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:1301926,pubmed:17503405,pubmed:7655883 pubmed:1301926,cosmic_study:419,pubmed:6310716,pubmed:9017946 18q12.1 18 31595124A> G null T A 69 69 missense 0.974 probably damaging 0.0 deleterious 1 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014383 A0A087WT59 TTR Transthyretin Ensembl,NCI-TCGA,dbSNP rs121918081 cosmic curated [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:1301926,pubmed:17503405,pubmed:7655883 pubmed:1301926,cosmic_study:419,pubmed:6310716,pubmed:9017946 18q12.1 18 31595124A> G null T A 69 69 missense 0.974 probably damaging 0.0 deleterious 1 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs730881165 18q12.1 18 31595220G> T null A S 69 69 missense 0.028 benign 1.0 tolerated 0 A0A087WT59 TTR Transthyretin ExAC,dbSNP,gnomAD rs730881165 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31595220G> A null A T 69 69 missense 0.021 benign 0.29 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV001064362 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs1555631417 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31595221C> T null A V 69 69 missense 0.07 benign 0.08 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV001221565 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs1131692003 18q12.1 18 31595223C> T null L F 70 70 missense 0.073 benign 0.06 tolerated 0 A0A087WT59 TTR Transthyretin gnomAD rs1356542149 18q12.1 18 31595224T> C null L P 70 70 missense 0.953 probably damaging 0.01 deleterious 0 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs781345808 18q12.1 18 31595229A> C null I L 72 72 missense 0.007 benign 0.75 tolerated 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918072 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy; almost no RBP binding pubmed:17503405,pubmed:3722385,pubmed:8089102 pubmed:11261421,pubmed:13367520,pubmed:2510740,pubmed:2840822,pubmed:2877582,pubmed:3760189,pubmed:4884226,pubmed:9547003 18q12.1 18 31595230T> G null I S 72 72 missense 0.118 benign 0.76 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014365 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918072 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy; almost no RBP binding pubmed:17503405,pubmed:3722385,pubmed:8089102 pubmed:11261421,pubmed:13367520,pubmed:2510740,pubmed:2840822,pubmed:2877582,pubmed:3760189,pubmed:4884226,pubmed:9547003 18q12.1 18 31595230T> G null I S 72 72 missense 0.118 benign 0.76 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC,TOPMed,gnomAD rs781345808 18q12.1 18 31595229A> G null I V 72 72 missense 0.012 benign 0.36 tolerated 0 A0A087WT59 TTR Transthyretin TOPMed rs11541784 18q12.1 18 31595232T> G null S A 73 73 missense 0.018 benign 0.1 tolerated 0 A0A087WT59 TTR Transthyretin TOPMed rs1322942118 18q12.1 18 31595233C> T null S F 73 73 missense 0.162 benign 0.02 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918082 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy and cardiomyopathy pubmed:1301926,pubmed:7655883 pubmed:1301926 18q12.1 18 31595244G> C null E Q 77 77 missense 0.241 benign 0.16 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014384 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918082 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy and cardiomyopathy pubmed:1301926,pubmed:7655883 pubmed:1301926 18q12.1 18 31595244G> C null E Q 77 77 missense 0.241 benign 0.16 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs121918074 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Familial hypertrophic cardiomyopathy 1, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy pubmed:1997217,pubmed:7923855 pubmed:1355416,pubmed:2174830,pubmed:2590199,pubmed:6736244 18q12.1 18 31595247C> A null H N 78 78 missense 0.233 benign 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014369 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs121918074 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Familial hypertrophic cardiomyopathy 1, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy pubmed:1997217,pubmed:7923855 pubmed:1355416,pubmed:2174830,pubmed:2590199,pubmed:6736244 18q12.1 18 31595247C> A null H N 78 78 missense 0.233 benign 0.01 deleterious 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770556 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs121918074 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Familial hypertrophic cardiomyopathy 1, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy pubmed:1997217,pubmed:7923855 pubmed:1355416,pubmed:2174830,pubmed:2590199,pubmed:6736244 18q12.1 18 31595247C> A null H N 78 78 missense 0.233 benign 0.01 deleterious 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173306 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs121918074 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Familial hypertrophic cardiomyopathy 1, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy pubmed:1997217,pubmed:7923855 pubmed:1355416,pubmed:2174830,pubmed:2590199,pubmed:6736244 18q12.1 18 31595247C> A null H N 78 78 missense 0.233 benign 0.01 deleterious 0 Familial hypertrophic cardiomyopathy 1 (CMH1) Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). MIM:192600 pubmed:20301559,pubmed:20301725,pubmed:21267010,pubmed:23788249,pubmed:25173338,pubmed:25356965,pubmed:27854360,ClinVar:RCV001256816 A0A087WT59 TTR Transthyretin Ensembl,NCI-TCGA,dbSNP rs730881163 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: amyloid cardiomyopathy pubmed:7850982 18q12.1 18 31595155C> A null T K 79 79 missense 0.895 possibly damaging 0.05 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin TOPMed,dbSNP rs1254341785 cosmic curated [ClinVar]: Amyloidogenic transthyretin amyloidosis, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 18q12.1 18 31595158C> T null T I 80 80 missense 0.95 probably damaging 0.01 deleterious 1 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000700173 A0A087WT59 TTR Transthyretin Ensembl rs372141133 18q12.1 18 31598569T> C null V A 81 81 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918087 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:10611950,pubmed:17503405,pubmed:8133316 pubmed:8133316 18q12.1 18 31598581C> G null A G 85 85 missense 0.92 probably damaging 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014390 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918087 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:10611950,pubmed:17503405,pubmed:8133316 pubmed:8133316 18q12.1 18 31598581C> G null A G 85 85 missense 0.92 probably damaging 0.01 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs267607161 [ClinVar]: Amyloidogenic transthyretin amyloidosis pubmed:10611950 pubmed:18022643,pubmed:20697105 18q12.1 18 31598580G> T null A S 85 85 missense 0.942 probably damaging 0.03 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014410 A0A087WT59 TTR Transthyretin dbSNP,gnomAD rs267607161 [ClinVar]: Amyloidogenic transthyretin amyloidosis pubmed:10611950 pubmed:18022643,pubmed:20697105 18q12.1 18 31598580G> T null A S 85 85 missense 0.942 probably damaging 0.03 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC,dbSNP,gnomAD rs761127889 [ClinVar]: Cardiomyopathy 18q12.1 18 31598587A> C null D A 87 87 missense 0.285 benign 0.14 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770558 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs76410435 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease 18q12.1 18 31598586G> A null D N 87 87 missense 0.897 possibly damaging 0.14 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000697928 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs76410435 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease 18q12.1 18 31598586G> A null D N 87 87 missense 0.897 possibly damaging 0.14 tolerated 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173299 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs76591836 18q12.1 18 31598589T> G null S A 88 88 missense 0.005 benign 0.87 tolerated 0 A0A087WT59 TTR Transthyretin ExAC,dbSNP,gnomAD rs76591836 [ClinVar]: Cardiomyopathy 18q12.1 18 31598589T> C null S P 88 88 missense 0.611 possibly damaging 0.53 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770559 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs779070222 18q12.1 18 31598593G> C null G A 89 89 missense 0.956 probably damaging 0.09 tolerated 0 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs779070222 18q12.1 18 31598593G> A null G D 89 89 missense 0.999 probably damaging 0.09 tolerated 0 A0A087WT59 TTR Transthyretin ExAC,TOPMed,gnomAD rs755337715 18q12.1 18 31598592G> C null G R 89 89 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl,NCI-TCGA,dbSNP rs121918084 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:17503405,pubmed:8095302,pubmed:8257997 pubmed:8257997,pubmed:9017946 18q12.1 18 31595191T> C null V A 91 91 missense 0.888 possibly damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014387 A0A087WT59 TTR Transthyretin Ensembl,NCI-TCGA,dbSNP rs121918084 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy, [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:17503405,pubmed:8095302,pubmed:8257997 pubmed:8257997,pubmed:9017946 18q12.1 18 31595191T> C null V A 91 91 missense 0.888 possibly damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,gnomAD rs371566010 cosmic curated [Cosmic]: large_intestine cosmic_study:376 18q12.1 18 31598598C> T null R C 91 91 missense 0.998 probably damaging 0.0 deleterious 1 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,gnomAD rs371566010 18q12.1 18 31598598C> G null R G 91 91 missense 0.812 possibly damaging 0.0 deleterious 0 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs148538950 cosmic curated [ClinVar]: Amyloidogenic transthyretin amyloidosis, [Cosmic]: large_intestine, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Charcot-Marie-Tooth disease pubmed:22810696,cosmic_study:375 18q12.1 18 31598599G> A null R H 91 91 missense 0.495 possibly damaging 0.05 deleterious 1 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000457018 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs148538950 cosmic curated [ClinVar]: Amyloidogenic transthyretin amyloidosis, [Cosmic]: large_intestine, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Charcot-Marie-Tooth disease pubmed:22810696,cosmic_study:375 18q12.1 18 31598599G> A null R H 91 91 missense 0.495 possibly damaging 0.05 deleterious 1 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173301 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs148538950 cosmic curated [ClinVar]: Amyloidogenic transthyretin amyloidosis, [Cosmic]: large_intestine, [ClinVar]: Primary familial hypertrophic cardiomyopathy, [ClinVar]: Charcot-Marie-Tooth disease pubmed:22810696,cosmic_study:375 18q12.1 18 31598599G> A null R H 91 91 missense 0.495 possibly damaging 0.05 deleterious 1 Primary familial hypertrophic cardiomyopathy (HCM) MIM:PS192600 pubmed:14607462,pubmed:20301725,pubmed:21810866,pubmed:25173338,ClinVar:RCV000845370 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs745834030 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy, [ClinVar]: Brugada syndrome, [ClinVar]: Conduction disorder of the heart 18q12.1 18 31598601C> T null R C 92 92 missense 0.928 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000461445 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs745834030 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy, [ClinVar]: Brugada syndrome, [ClinVar]: Conduction disorder of the heart 18q12.1 18 31598601C> T null R C 92 92 missense 0.928 probably damaging 0.0 deleterious 0 Brugada syndrome Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. MIM:PS601144 pubmed:20301690,pubmed:23994779,ClinVar:RCV000852478 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs745834030 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy, [ClinVar]: Brugada syndrome, [ClinVar]: Conduction disorder of the heart 18q12.1 18 31598601C> T null R C 92 92 missense 0.928 probably damaging 0.0 deleterious 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770561 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs745834030 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy, [ClinVar]: Brugada syndrome, [ClinVar]: Conduction disorder of the heart 18q12.1 18 31598601C> T null R C 92 92 missense 0.928 probably damaging 0.0 deleterious 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173298 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs745834030 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy, [ClinVar]: Brugada syndrome, [ClinVar]: Conduction disorder of the heart 18q12.1 18 31598601C> T null R C 92 92 missense 0.928 probably damaging 0.0 deleterious 0 Conduction disorder of the heart MIM:115080 ClinVar:RCV001256815 A0A087WT59 TTR Transthyretin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs121918095 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy pubmed:10529370,pubmed:15735344 pubmed:10529370 18q12.1 18 31598602G> A null R H 92 92 0.002596 missense 0.001 benign 1.0 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014400 A0A087WT59 TTR Transthyretin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs121918095 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy pubmed:10529370,pubmed:15735344 pubmed:10529370 18q12.1 18 31598602G> A null R H 92 92 0.002596 missense 0.001 benign 1.0 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV001170383 A0A087WT59 TTR Transthyretin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs121918095 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Cardiomyopathy pubmed:10529370,pubmed:15735344 pubmed:10529370 18q12.1 18 31598602G> A null R H 92 92 0.002596 missense 0.001 benign 1.0 tolerated 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173296 A0A087WT59 TTR Transthyretin ExAC,TOPMed,gnomAD rs749079577 18q12.1 18 31598606C> A null Y * 93 93 stop gained 0 A0A087WT59 TTR Transthyretin TOPMed,gnomAD rs1456101911 18q12.1 18 31598608C> T null T I 94 94 missense 0.153 benign 0.26 tolerated 0 A0A087WT59 TTR Transthyretin TOPMed,dbSNP,gnomAD rs1456101911 pubmed:17503405 18q12.1 18 31598608C> A null T N 94 94 missense 0.759 possibly damaging 0.28 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs768497450 18q12.1 18 31598611T> C null I T 95 95 missense 0.537 possibly damaging 0.02 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918089 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:17503405,pubmed:7914929,pubmed:8081397 pubmed:7914929 18q12.1 18 31598610A> G null I V 95 95 missense 0.014 benign 0.42 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014392 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918089 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:17503405,pubmed:7914929,pubmed:8081397 pubmed:7914929 18q12.1 18 31598610A> G null I V 95 95 missense 0.014 benign 0.42 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin gnomAD rs1162409162 18q12.1 18 31598614C> T null A V 96 96 missense 0.778 possibly damaging 0.14 tolerated 0 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs267607159 [ClinVar]: Cardiomyopathy 18q12.1 18 31598616G> T null A S 97 97 missense 0.642 possibly damaging 0.01 deleterious 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000770562 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs121918092 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Dystransthyretinemic euthyroidal hyperthyroxinemia pubmed:8784093 18q12.1 18 31598617C> T null A V 97 97 missense 0.029 benign 0.4 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV001056317 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs121918092 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Dystransthyretinemic euthyroidal hyperthyroxinemia pubmed:8784093 18q12.1 18 31598617C> T null A V 97 97 missense 0.029 benign 0.4 tolerated 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173297 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs121918092 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: Charcot-Marie-Tooth disease, [ClinVar]: Dystransthyretinemic euthyroidal hyperthyroxinemia pubmed:8784093 18q12.1 18 31598617C> T null A V 97 97 missense 0.029 benign 0.4 tolerated 0 Dystransthyretinemic euthyroidal hyperthyroxinemia (DTTRH) MIM:145680 ClinVar:RCV000014396 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918073 [ClinVar]: Amyloidogenic transthyretin amyloidosis pubmed:17503405 pubmed:13894830,pubmed:1618497,pubmed:1626570,pubmed:8095302,pubmed:8406434 18q12.1 18 31598622C> A null L M 99 99 missense 0.909 probably damaging 0.04 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014366 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918073 [ClinVar]: Amyloidogenic transthyretin amyloidosis pubmed:17503405 pubmed:13894830,pubmed:1618497,pubmed:1626570,pubmed:8095302,pubmed:8406434 18q12.1 18 31598622C> A null L M 99 99 missense 0.909 probably damaging 0.04 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl rs11541785 18q12.1 18 31598629C> T null P L 101 101 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs730881166 18q12.1 18 31598628C> T null P S 101 101 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918075 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:12403615,pubmed:16185074,pubmed:2161654 pubmed:1330202,pubmed:2161654 18q12.1 18 31598632A> G null Y C 102 102 missense 0.99 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014361 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918075 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: amyloid polyneuropathy pubmed:12403615,pubmed:16185074,pubmed:2161654 pubmed:1330202,pubmed:2161654 18q12.1 18 31598632A> G null Y C 102 102 missense 0.99 probably damaging 0.0 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918088 [ClinVar]: Carpal tunnel syndrome, familial, [UniProt]: amyloid deposit on carpal tunnel; patients show no other abnormalities pubmed:8309582 pubmed:8309582 18q12.1 18 31598631T> C null Y H 102 102 missense 0.99 probably damaging 0.0 deleterious 0 Carpal tunnel syndrome 1 (CTS1) A condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis. MIM:115430 pubmed:8309582 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs121918088 [ClinVar]: Carpal tunnel syndrome, familial, [UniProt]: amyloid deposit on carpal tunnel; patients show no other abnormalities pubmed:8309582 pubmed:8309582 18q12.1 18 31598631T> C null Y H 102 102 missense 0.99 probably damaging 0.0 deleterious 0 Carpal tunnel syndrome, familial ClinVar:RCV000014391 A0A087WT59 TTR Transthyretin ExAC,TOPMed,dbSNP,gnomAD rs766909913 cosmic curated [ClinVar]: Amyloidogenic transthyretin amyloidosis, [Cosmic]: lung pubmed:22980975,cosmic_study:431 18q12.1 18 31598637T> C null Y H 104 104 missense 0.994 probably damaging 0.0 deleterious 1 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000706531 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs730881167 [UniProt]: amyloid polyneuropathy pubmed:10627135 18q12.1 18 31598638A> C null Y S 104 104 missense 0.988 probably damaging 0.02 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin ExAC,gnomAD rs777190076 18q12.1 18 31598640T> A null S T 105 105 missense 0.593 possibly damaging 0.23 tolerated 0 A0A087WT59 TTR Transthyretin gnomAD rs1804118 18q12.1 18 31598644C> T null T I 106 106 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT59 TTR Transthyretin gnomAD rs1804118 18q12.1 18 31598644C> A null T N 106 106 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs876658108 [ClinVar]: Amyloidogenic transthyretin amyloidosis pubmed:12050338 18q12.1 18 31598649G> T null A S 108 108 missense 0.95 probably damaging 0.01 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000809803 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs876658108 [ClinVar]: Amyloidogenic transthyretin amyloidosis pubmed:12050338 18q12.1 18 31598649G> T null A S 108 108 missense 0.95 probably damaging 0.01 deleterious 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl,dbSNP rs876661395 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 18q12.1 18 31595246G> T null E D 109 109 missense 0.408 benign 0.25 tolerated 1 A0A087WT59 TTR Transthyretin ESP,ExAC,TOPMed,dbSNP,gnomAD rs144965179 pubmed:17577687 18q12.1 18 31598662A> G null N S 112 112 missense 0.0 benign 0.14 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin Ensembl rs11541798 18q12.1 18 31598665C> A null P H 113 113 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A087WT59 TTR Transthyretin TOPMed rs1434519437 18q12.1 18 31598664C> T null P S 113 113 missense 0.743 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT59 TTR Transthyretin 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs536294863 [ClinVar]: Amyloidogenic transthyretin amyloidosis 18q12.1 18 31598668A> G null K R 114 114 2.0E-4 missense 0.003 benign 0.66 tolerated - low confidence 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV001084678 A0A087WT59 TTR Transthyretin ExAC,dbSNP,gnomAD rs730881162 18q12.1 18 31598670G> T null E * 115 115 stop gained 0 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370056601 18q12.1 18 31598672A> T null E D 115 115 2.0E-4 missense 0.001 benign 0.13 tolerated - low confidence 0 A0A087WT59 TTR Transthyretin TOPMed rs1486158132 18q12.1 18 31598674de l null * = 116 116 stop lost 0 A0A087WT59 TTR Transthyretin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs755337715 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. pubmed:10671063,pubmed:17503405 18q12.1 18 31598592G> A null G S 159 159 missense 0.999 probably damaging 0.14 tolerated 0 A0A087WT59 TTR Transthyretin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs267607159 NCI-TCGA Cosmic [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: increased affinity for thyroxine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:17503405,pubmed:1979335 18q12.1 18 31598616G> A null A T 167 167 missense 0.038 benign 0.08 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000548533 A0A087WT59 TTR Transthyretin ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs267607159 NCI-TCGA Cosmic [ClinVar]: Amyloidogenic transthyretin amyloidosis, [UniProt]: increased affinity for thyroxine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:17503405,pubmed:1979335 18q12.1 18 31598616G> A null A T 167 167 missense 0.038 benign 0.08 tolerated 0 Hyperthyroxinemia, dystransthyretinemic (DTTRH) A condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities. MIM:145680 pubmed:1979335 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28933981 NCI-TCGA Cosmic [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF, [ClinVar]: Charcot-Marie-Tooth disease, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy, [UniProt]: Chicago variant pubmed:11866053,pubmed:17503405,pubmed:1877623 pubmed:11577236,pubmed:1356051,pubmed:1729893,pubmed:1877623,pubmed:8102146 18q12.1 18 31598647C> T null T M 177 177 9.98E-4 missense 0.997 probably damaging 0.0 deleterious 0 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF ClinVar:RCV000014376 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28933981 NCI-TCGA Cosmic [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF, [ClinVar]: Charcot-Marie-Tooth disease, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy, [UniProt]: Chicago variant pubmed:11866053,pubmed:17503405,pubmed:1877623 pubmed:11577236,pubmed:1356051,pubmed:1729893,pubmed:1877623,pubmed:8102146 18q12.1 18 31598647C> T null T M 177 177 9.98E-4 missense 0.997 probably damaging 0.0 deleterious 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000990084 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28933981 NCI-TCGA Cosmic [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF, [ClinVar]: Charcot-Marie-Tooth disease, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy, [UniProt]: Chicago variant pubmed:11866053,pubmed:17503405,pubmed:1877623 pubmed:11577236,pubmed:1356051,pubmed:1729893,pubmed:1877623,pubmed:8102146 18q12.1 18 31598647C> T null T M 177 177 9.98E-4 missense 0.997 probably damaging 0.0 deleterious 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV001170385 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28933981 NCI-TCGA Cosmic [ClinVar]: Amyloidogenic transthyretin amyloidosis, [ClinVar]: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF, [ClinVar]: Charcot-Marie-Tooth disease, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy, [UniProt]: Chicago variant pubmed:11866053,pubmed:17503405,pubmed:1877623 pubmed:11577236,pubmed:1356051,pubmed:1729893,pubmed:1877623,pubmed:8102146 18q12.1 18 31598647C> T null T M 177 177 9.98E-4 missense 0.997 probably damaging 0.0 deleterious 0 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. MIM:PS118220 pubmed:20301532,ClinVar:RCV001173303 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs76992529 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy, [ClinVar]: Amyloid Cardiomyopathy, Transthyretin-related, [ClinVar]: ATTRV122I amyloidosis, [ClinVar]: Carpal tunnel syndrome pubmed:12050338,pubmed:17503405,pubmed:3135807 pubmed:11385707,pubmed:11752419,pubmed:11752443,pubmed:12050338,pubmed:12874414,pubmed:1351039,pubmed:1358785,pubmed:2002274,pubmed:2063870,pubmed:2320592,pubmed:2349941,pubmed:2646319,pubmed:3030336,pubmed:3229002,pubmed:3627183,pubmed:3934968,pubmed:7868124,pubmed:8698351 18q12.1 18 31598655G> A null V I 180 180 0.005591 missense 0.986 probably damaging 0.06 tolerated 0 ATTRV122I amyloidosis ClinVar:RCV000853387 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs76992529 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy, [ClinVar]: Amyloid Cardiomyopathy, Transthyretin-related, [ClinVar]: ATTRV122I amyloidosis, [ClinVar]: Carpal tunnel syndrome pubmed:12050338,pubmed:17503405,pubmed:3135807 pubmed:11385707,pubmed:11752419,pubmed:11752443,pubmed:12050338,pubmed:12874414,pubmed:1351039,pubmed:1358785,pubmed:2002274,pubmed:2063870,pubmed:2320592,pubmed:2349941,pubmed:2646319,pubmed:3030336,pubmed:3229002,pubmed:3627183,pubmed:3934968,pubmed:7868124,pubmed:8698351 18q12.1 18 31598655G> A null V I 180 180 0.005591 missense 0.986 probably damaging 0.06 tolerated 0 Amyloid Cardiomyopathy, Transthyretin-related (ICA) pubmed:25173338,ClinVar:RCV000030575 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs76992529 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy, [ClinVar]: Amyloid Cardiomyopathy, Transthyretin-related, [ClinVar]: ATTRV122I amyloidosis, [ClinVar]: Carpal tunnel syndrome pubmed:12050338,pubmed:17503405,pubmed:3135807 pubmed:11385707,pubmed:11752419,pubmed:11752443,pubmed:12050338,pubmed:12874414,pubmed:1351039,pubmed:1358785,pubmed:2002274,pubmed:2063870,pubmed:2320592,pubmed:2349941,pubmed:2646319,pubmed:3030336,pubmed:3229002,pubmed:3627183,pubmed:3934968,pubmed:7868124,pubmed:8698351 18q12.1 18 31598655G> A null V I 180 180 0.005591 missense 0.986 probably damaging 0.06 tolerated 0 Amyloidogenic transthyretin amyloidosis Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. MIM:105210 pubmed:20301373,pubmed:24368466,pubmed:25173338,ClinVar:RCV000014368,ClinVar:RCV000515257 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs76992529 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy, [ClinVar]: Amyloid Cardiomyopathy, Transthyretin-related, [ClinVar]: ATTRV122I amyloidosis, [ClinVar]: Carpal tunnel syndrome pubmed:12050338,pubmed:17503405,pubmed:3135807 pubmed:11385707,pubmed:11752419,pubmed:11752443,pubmed:12050338,pubmed:12874414,pubmed:1351039,pubmed:1358785,pubmed:2002274,pubmed:2063870,pubmed:2320592,pubmed:2349941,pubmed:2646319,pubmed:3030336,pubmed:3229002,pubmed:3627183,pubmed:3934968,pubmed:7868124,pubmed:8698351 18q12.1 18 31598655G> A null V I 180 180 0.005591 missense 0.986 probably damaging 0.06 tolerated 0 Amyloidosis, transthyretin-related (AMYL-TTR) A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. MIM:105210 pubmed:10211412,pubmed:10882995,pubmed:11445644,pubmed:11866053,pubmed:1517749,pubmed:1520336,pubmed:15478468,pubmed:1656975,pubmed:16627944,pubmed:19167329,pubmed:2891727,pubmed:3135807,pubmed:3722385,pubmed:6583672,pubmed:7910950,pubmed:7914929,pubmed:7923855,pubmed:8019560,pubmed:8990019,pubmed:9605286 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs76992529 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy, [ClinVar]: Amyloid Cardiomyopathy, Transthyretin-related, [ClinVar]: ATTRV122I amyloidosis, [ClinVar]: Carpal tunnel syndrome pubmed:12050338,pubmed:17503405,pubmed:3135807 pubmed:11385707,pubmed:11752419,pubmed:11752443,pubmed:12050338,pubmed:12874414,pubmed:1351039,pubmed:1358785,pubmed:2002274,pubmed:2063870,pubmed:2320592,pubmed:2349941,pubmed:2646319,pubmed:3030336,pubmed:3229002,pubmed:3627183,pubmed:3934968,pubmed:7868124,pubmed:8698351 18q12.1 18 31598655G> A null V I 180 180 0.005591 missense 0.986 probably damaging 0.06 tolerated 0 Cardiomyopathy (CMYO) pubmed:21810866,ClinVar:RCV000211747 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs76992529 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy, [ClinVar]: Amyloid Cardiomyopathy, Transthyretin-related, [ClinVar]: ATTRV122I amyloidosis, [ClinVar]: Carpal tunnel syndrome pubmed:12050338,pubmed:17503405,pubmed:3135807 pubmed:11385707,pubmed:11752419,pubmed:11752443,pubmed:12050338,pubmed:12874414,pubmed:1351039,pubmed:1358785,pubmed:2002274,pubmed:2063870,pubmed:2320592,pubmed:2349941,pubmed:2646319,pubmed:3030336,pubmed:3229002,pubmed:3627183,pubmed:3934968,pubmed:7868124,pubmed:8698351 18q12.1 18 31598655G> A null V I 180 180 0.005591 missense 0.986 probably damaging 0.06 tolerated 0 Carpal tunnel syndrome (CTS1) Carpal tunnel syndrome is a disorder caused by disturbances in nerve function (neuropathy), leading to pain and numbness or tingling (paresthesia) primarily in the wrist and hand. MIM:115430 ClinVar:RCV000515257 A0A087WT59 TTR Transthyretin 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs76992529 [ClinVar]: Amyloidogenic transthyretin amyloidosis, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiomyopathy, [ClinVar]: Amyloid Cardiomyopathy, Transthyretin-related, [ClinVar]: ATTRV122I amyloidosis, [ClinVar]: Carpal tunnel syndrome pubmed:12050338,pubmed:17503405,pubmed:3135807 pubmed:11385707,pubmed:11752419,pubmed:11752443,pubmed:12050338,pubmed:12874414,pubmed:1351039,pubmed:1358785,pubmed:2002274,pubmed:2063870,pubmed:2320592,pubmed:2349941,pubmed:2646319,pubmed:3030336,pubmed:3229002,pubmed:3627183,pubmed:3934968,pubmed:7868124,pubmed:8698351 18q12.1 18 31598655G> A null V I 180 180 0.005591 missense 0.986 probably damaging 0.06 tolerated 0 Dystransthyretinemic euthyroidal hyperthyroxinemia (DTTRH) MIM:145680 ClinVar:RCV000515257 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs1365053291 6q26 6 163060847G> A null W * 2 2 stop gained 0 A0A087WT60 PACRG Parkin coregulated gene protein gnomAD rs1292693638 6q26 6 163062150G> A null V I 4 4 missense 0.037 benign 0.08 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein gnomAD rs1267329582 6q26 6 163062168G> A null D N 10 10 missense 0.638 possibly damaging 0.03 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein gnomAD rs1429598703 6q26 6 163062172A> G null Y C 11 11 missense 0.975 probably damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,NCI-TCGA,TOPMed,gnomAD rs762433151 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung cosmic_study:418 6q26 6 163062174C> T null H Y 12 12 missense 0.361 benign 0.04 deleterious 1 A0A087WT60 PACRG Parkin coregulated gene protein gnomAD rs903687958 6q26 6 163062180T> C null Y H 14 14 missense 0.093 benign 0.01 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ESP,ExAC,TOPMed,gnomAD rs148619883 6q26 6 163062199A> G null D G 20 20 missense 0.571 possibly damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ESP,ExAC,TOPMed,gnomAD rs148619883 6q26 6 163062199A> T null D V 20 20 missense 0.667 possibly damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,TOPMed,gnomAD rs768337874 6q26 6 163062198G> T null D Y 20 20 missense 0.729 possibly damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein gnomAD rs1292402584 6q26 6 163062204C> G null L V 22 22 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed,gnomAD rs1385661043 6q26 6 163062210G> T null E * 24 24 stop gained 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs762097052 6q26 6 163062217C> T null T I 26 26 missense 0.003 benign 0.05 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein Ensembl rs866953901 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q26 6 163062222C> T null P S 28 28 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ESP,NCI-TCGA,TOPMed rs376754201 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q26 6 163062226A> G null Y C 29 29 missense 0.224 benign 0.02 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein Ensembl rs1562878680 6q26 6 163062231T> G null F V 31 31 missense 0.162 benign 0.02 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,TOPMed,gnomAD rs767903540 cosmic curated [Cosmic]: lung cosmic_study:583 6q26 6 163062240C> G null R G 34 34 missense 0.607 possibly damaging 0.31 tolerated 1 A0A087WT60 PACRG Parkin coregulated gene protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs370616018 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6q26 6 163062241G> A null R Q 34 34 missense 0.118 benign 0.32 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,NCI-TCGA,TOPMed,gnomAD rs767903540 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:440 6q26 6 163062240C> T null R W 34 34 missense 0.14 benign 0.18 tolerated 1 A0A087WT60 PACRG Parkin coregulated gene protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs374040289 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q26 6 163062247G> T null G V 36 36 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs766839773 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 6q26 6 163062253A> G null H R 38 38 missense 0.007 benign 0.34 tolerated 1 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs755071236 6q26 6 163062255G> A null D N 39 39 missense 0.695 possibly damaging 0.02 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed,gnomAD rs1008258255 6q26 6 163062260G> T null M I 40 40 missense 0.062 benign 0.02 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs1382356259 6q26 6 163062258A> G null M V 40 40 missense 0.167 benign 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein gnomAD rs1464745047 6q26 6 163062264G> C null E Q 42 42 missense 0.124 benign 0.24 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs1418744158 6q26 6 163062271G> A null G D 44 44 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs752973621 6q26 6 163062270G> A null G S 44 44 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ESP,ExAC,TOPMed,gnomAD rs367612673 6q26 6 163062277A> G null N S 46 46 missense 0.0 benign 0.78 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs781110978 6q26 6 163062280A> G null K R 47 47 missense 0.071 benign 0.25 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs959499277 6q26 6 163062283T> C null I T 48 48 missense 0.377 benign 0.06 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein Ensembl rs1020016527 6q26 6 163062292T> C null V A 51 51 missense 0.577 possibly damaging 0.06 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed,gnomAD rs1387757415 6q26 6 163062303C> T null L F 55 55 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs745697173 6q26 6 163062306A> G null I V 56 56 missense 0.23 benign 0.1 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,NCI-TCGA,TOPMed,gnomAD rs756074503 cosmic curated [Cosmic]: breast, [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414,cosmic_study:419 6q26 6 163062313C> T null P L 58 58 missense 0.995 probably damaging 0.0 deleterious 1 A0A087WT60 PACRG Parkin coregulated gene protein Ensembl rs1027166563 6q26 6 163062316T> A null I K 59 59 missense 0.826 possibly damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs1265428011 6q26 6 163062318A> C null K Q 60 60 missense 0.844 possibly damaging 0.02 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs750215824 6q26 6 163089259A> T null N I 61 61 missense 0.622 possibly damaging 0.07 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs1287178724 6q26 6 163089262C> A null A D 62 62 missense 0.948 probably damaging 0.02 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,NCI-TCGA,TOPMed,gnomAD rs749211635 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:376 6q26 6 163089273C> T null R * 66 66 missense 1 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,NCI-TCGA,TOPMed,gnomAD rs762458343 cosmic curated [Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:23415222,cosmic_study:465 6q26 6 163089274G> A null R Q 66 66 missense 0.905 possibly damaging 0.0 deleterious 1 A0A087WT60 PACRG Parkin coregulated gene protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs369094995 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. cosmic_study:419 6q26 6 163089279C> T null R * 68 68 missense 1 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed,gnomAD rs1192881334 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q26 6 163089280G> A null R Q 68 68 missense 0.022 benign 0.46 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs772907653 6q26 6 163089283A> G null Q R 69 69 missense 0.005 benign 0.6 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein Ensembl rs1041476583 6q26 6 163089295T> C null V A 73 73 missense 0.001 benign 0.52 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,TOPMed,gnomAD rs771206229 6q26 6 163089294G> T null V F 73 73 missense 0.121 benign 0.02 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,TOPMed,gnomAD rs771206229 6q26 6 163089294G> A null V I 73 73 missense 0.001 benign 0.48 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs1271654623 6q26 6 163089298C> T null T I 74 74 missense 0.331 benign 0.02 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs770463159 6q26 6 163089303A> C null K Q 76 76 missense 0.885 possibly damaging 0.12 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,TOPMed,gnomAD rs775706301 6q26 6 163089307T> C null V A 77 77 missense 0.003 benign 0.11 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein Ensembl rs201656680 6q26 6 163089306G> A null V I 77 77 missense 0.003 benign 0.31 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs763183103 6q26 6 163089310T> C null L P 78 78 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein gnomAD rs1382077073 6q26 6 163089321G> A null V I 82 82 missense 0.101 benign 0.04 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs1206471193 6q26 6 163089324G> A null V M 83 83 missense 0.009 benign 0.3 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs764350117 6q26 6 163089328C> G null S * 84 84 stop gained 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,TOPMed,gnomAD rs760476268 6q26 6 163089331C> G null A G 85 85 missense 0.007 benign 0.78 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,TOPMed,gnomAD rs760476268 6q26 6 163089331C> T null A V 85 85 missense 0.087 benign 0.11 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs766106828 6q26 6 163089333G> A null E K 86 86 missense 0.023 benign 0.22 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein 1000Genomes,ExAC rs148213356 6q26 6 163089340T> C null V A 88 88 2.0E-4 missense 0.046 benign 0.14 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein gnomAD rs1490376582 6q26 6 163089343G> C null G A 89 89 missense 0.957 probably damaging 0.02 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs778891928 6q26 6 163089348G> A null A T 91 91 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ESP,ExAC,TOPMed,gnomAD rs199945139 6q26 6 163089358C> T null P L 94 94 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein gnomAD rs1186944630 6q26 6 163089361A> T null Y F 95 95 missense 0.903 possibly damaging 0.08 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,TOPMed,gnomAD rs757917371 6q26 6 163089364A> G null Y C 96 96 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,NCI-TCGA,TOPMed,gnomAD rs777419437 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 6q26 6 163089366C> T null R C 97 97 missense 0.994 probably damaging 0.0 deleterious 1 A0A087WT60 PACRG Parkin coregulated gene protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376427225 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 6q26 6 163089367G> A null R H 97 97 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,TOPMed,gnomAD rs770663362 6q26 6 163089375C> T null L F 100 100 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs746301135 6q26 6 163089379C> G null P R 101 101 missense 0.73 possibly damaging 0.02 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,NCI-TCGA,gnomAD rs776149854 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q26 6 163089390A> T null I F 105 105 missense 0.334 benign 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed,gnomAD rs775584565 6q26 6 163089394T> C null F S 106 106 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein ESP,ExAC,TOPMed,gnomAD rs369701260 6q26 6 163089404G> A null M I 109 109 missense 0.001 benign 0.46 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs1431585708 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 6q26 6 163089402A> G null M V 109 109 missense 0.001 benign 0.58 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs768884963 6q26 6 163089408G> T null G C 111 111 missense 0.367 benign 0.06 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs926645451 6q26 6 163089409G> A null G D 111 111 missense 0.001 benign 0.65 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein ExAC,gnomAD rs768884963 6q26 6 163089408G> A null G S 111 111 missense 0.0 benign 0.77 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs959423665 6q26 6 163090282T> C null S P 113 113 missense 0.31 benign 0.13 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs1266794668 6q26 6 163090285G> A null A T 114 114 missense 0.0 benign 0.0 deleterious 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed rs1339314525 6q26 6 163090291G> A null G S 116 116 missense 0.015 benign 0.28 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein TOPMed,gnomAD rs938228685 6q26 6 163090299C> A null D E 118 118 missense 0.006 benign 0.23 tolerated 0 A0A087WT60 PACRG Parkin coregulated gene protein 1000Genomes rs144092454 6q26 6 163090304C> T null S L 120 120 5.99E-4 missense 0.7 possibly damaging 0.01 deleterious 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1430594470 16p12.2 16 21851149C> T null R Q 2 2 missense 0.412 benign 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1372886148 16p12.2 16 21851150G> A null R W 2 2 missense 0.833 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs771849764 16p12.2 16 21851144G> C null R G 4 4 missense 0.3 benign 0.09 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs771849764 16p12.2 16 21851144G> A null R W 4 4 missense 0.833 possibly damaging 0.14 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1369469149 16p12.2 16 21851092T> C null H R 21 21 missense 0.926 probably damaging 0.18 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1187455899 16p12.2 16 21851080G> C null S C 25 25 missense 0.0 benign 0.04 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1261013472 16p12.2 16 21847541C> T null V I 26 26 missense 0.976 probably damaging 0.07 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,TOPMed,gnomAD rs199863058 16p12.2 16 21847534T> C null N S 28 28 0.001797 missense 0.99 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,gnomAD rs757912590 16p12.2 16 21847526C> A null A S 31 31 missense 0.994 probably damaging 0.07 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1318844987 16p12.2 16 21847522T> G null D A 32 32 missense 0.311 benign 0.03 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs749999941 16p12.2 16 21847523C> A null D Y 32 32 missense 0.904 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1451684767 16p12.2 16 21847518A> T null H Q 33 33 missense 0.713 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,gnomAD rs765700455 16p12.2 16 21847517G> C null H D 34 34 missense 0.547 possibly damaging 0.08 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1257387136 16p12.2 16 21847513T> C null H R 35 35 missense 0.983 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1175271857 16p12.2 16 21847511G> A null R C 36 36 missense 0.997 probably damaging 0.02 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs754361963 16p12.2 16 21847510C> T null R H 36 36 missense 0.997 probably damaging 0.04 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs754361963 16p12.2 16 21847510C> A null R L 36 36 missense 0.993 probably damaging 0.07 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,TOPMed,gnomAD rs550529229 16p12.2 16 21847508C> T null G R 37 37 0.001997 missense 0.576 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,gnomAD rs760948550 16p12.2 16 21847507C> A null G V 37 37 missense 0.65 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs775727581 16p12.2 16 21847499A> C null F V 40 40 missense 0.988 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,gnomAD rs772244753 16p12.2 16 21847496C> G null G R 41 41 missense 0.992 probably damaging 0.07 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs759659280 16p12.2 16 21847492C> G null G A 42 42 missense 0.654 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs774616234 16p12.2 16 21847486G> A null P L 44 44 missense 0.719 possibly damaging 0.06 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1487584907 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p12.2 16 21847487G> A null P S 44 44 missense 0.936 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1374667530 16p12.2 16 21847482C> A null W C 45 45 missense 0.893 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1220869686 16p12.2 16 21847479T> A null L F 46 46 missense 0.576 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,gnomAD rs748051103 16p12.2 16 21847477T> A null H L 47 47 missense 0.0 benign 0.67 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,TOPMed,gnomAD rs200206734 16p12.2 16 21847478G> A null H Y 47 47 0.01518 missense 0.006 benign 1.0 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1277415015 16p12.2 16 21847472T> C null I V 49 49 missense 0.138 benign 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs768432059 16p12.2 16 21847466C> A null A S 51 51 missense 0.217 benign 0.47 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1270249998 16p12.2 16 21847465G> A null A V 51 51 missense 0.003 benign 0.28 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1218003172 16p12.2 16 21847463A> G null F L 52 52 missense 0.474 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,TOPMed,gnomAD rs201888052 16p12.2 16 21847459G> A null P L 53 53 5.99E-4 missense 0.001 benign 1.0 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1415112205 16p12.2 16 21847456G> C null T R 54 54 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1409651704 16p12.2 16 21847454T> A null S C 55 55 missense 0.005 benign 0.11 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs758026421 16p12.2 16 21847453C> T null S N 55 55 missense 0.19 benign 0.48 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1411842018 16p12.2 16 21847445C> A null V F 58 58 missense 0.003 benign 0.92 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,TOPMed,gnomAD rs200691437 16p12.2 16 21847439T> C null I V 60 60 7.99E-4 missense 0.019 benign 0.09 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1231676806 16p12.2 16 21847429C> T null W * 63 63 stop gained 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs764526830 16p12.2 16 21847423A> T null V D 65 65 missense 0.108 benign 0.21 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1189122308 16p12.2 16 21847418G> T null L I 67 67 missense 0.872 possibly damaging 0.03 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,gnomAD rs761091741 16p12.2 16 21847414C> T null W * 68 68 stop gained 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1410388911 16p12.2 16 21847415A> G null W R 68 68 missense 0.731 possibly damaging 0.2 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1444716429 16p12.2 16 21843787G> A null L F 71 71 missense 0.005 benign 1.0 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1477444439 16p12.2 16 21843780T> A null K M 73 73 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1355265905 16p12.2 16 21843769A> G null W R 77 77 missense 0.117 benign 0.75 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1330776689 16p12.2 16 21843768C> G null W S 77 77 missense 0.117 benign 0.1 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs376664955 16p12.2 16 21843765G> A null S F 78 78 missense 0.999 probably damaging 0.02 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1464084977 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p12.2 16 21843762C> T null R Q 79 79 missense 0.026 benign 1.0 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1397360321 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p12.2 16 21843741G> A null T M 86 86 missense 0.084 benign 0.2 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1278256109 16p12.2 16 21843733G> C null Q E 89 89 missense 0.989 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1316639710 16p12.2 16 21843709G> A null R C 97 97 missense 0.983 probably damaging 0.01 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1405268611 16p12.2 16 21843706G> A null R C 98 98 missense 0.005 benign 0.2 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs201739449 16p12.2 16 21843705C> T null R H 98 98 missense 0.017 benign 0.21 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1405268611 16p12.2 16 21843706G> T null R S 98 98 missense 0.036 benign 0.46 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1401124785 16p12.2 16 21843701T> A null R S 99 99 missense 0.279 benign 0.61 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1179316231 16p12.2 16 21843697C> T null E K 101 101 missense 0.065 benign 0.07 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1179316231 16p12.2 16 21843697C> G null E Q 101 101 missense 0.767 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs745673026 16p12.2 16 21843530C> T null G E 102 102 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs745673026 16p12.2 16 21843530C> A null G V 102 102 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs199766578 16p12.2 16 21843527T> C null N S 103 103 missense 0.688 possibly damaging 0.74 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,TOPMed,gnomAD rs565021235 16p12.2 16 21843524T> A null K I 104 104 5.99E-4 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 Ensembl rs866696004 16p12.2 16 21843522T> C null I V 105 105 missense 0.815 possibly damaging 0.1 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,gnomAD rs74791445 16p12.2 16 21843518A> C null V G 106 106 missense 0.0 benign 1.0 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,TOPMed,gnomAD rs576002258 16p12.2 16 21843515A> G null L P 107 107 5.99E-4 missense 0.968 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,TOPMed,gnomAD rs576002258 16p12.2 16 21843515A> C null L R 107 107 5.99E-4 missense 0.061 benign 0.25 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs960182026 16p12.2 16 21843516G> C null L V 107 107 missense 0.172 benign 0.03 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,gnomAD rs755337233 16p12.2 16 21843506A> T null V D 110 110 missense 0.926 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs781724788 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p12.2 16 21843507C> A null V F 110 110 missense 0.846 possibly damaging 0.05 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,NCI-TCGA,TOPMed,gnomAD rs781724788 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p12.2 16 21843507C> T null V I 110 110 missense 0.028 benign 0.52 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,NCI-TCGA,gnomAD rs780391643 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p12.2 16 21843503A> G null I T 111 111 missense 0.333 benign 0.03 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,gnomAD rs752036994 16p12.2 16 21843504T> C null I V 111 111 missense 0.015 benign 0.16 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1311542852 16p12.2 16 21843497A> G null L P 113 113 missense 0.108 benign 0.12 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1311542852 16p12.2 16 21843497A> C null L R 113 113 missense 0.974 probably damaging 0.05 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,TOPMed,gnomAD rs554550166 16p12.2 16 21843494C> T null R Q 114 114 5.99E-4 missense 0.017 benign 0.45 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs758741042 16p12.2 16 21843495G> A null R W 114 114 missense 0.005 benign 0.7 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,TOPMed,gnomAD rs542651657 16p12.2 16 21843488T> A null H L 116 116 0.001398 missense 0.457 possibly damaging 0.11 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs752514232 16p12.2 16 21843487A> C null H Q 116 116 missense 0.03 benign 0.37 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,TOPMed,gnomAD rs542651657 16p12.2 16 21843488T> C null H R 116 116 0.001398 missense 0.373 benign 0.07 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1465968131 16p12.2 16 21843489G> A null H Y 116 116 missense 0.03 benign 0.44 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1171899513 16p12.2 16 21843486C> T null V M 117 117 missense 0.087 benign 0.63 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1191268066 16p12.2 16 21843482T> C null E G 118 118 missense 0.882 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs759325245 16p12.2 16 21843483C> T null E K 118 118 missense 0.124 benign 0.26 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs770551665 16p12.2 16 21843479G> A null T I 119 119 missense 0.796 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs770551665 16p12.2 16 21843479G> T null T K 119 119 missense 0.406 benign 0.17 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1034801682 16p12.2 16 21843477T> C null K E 120 120 missense 0.931 probably damaging 0.08 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,gnomAD rs772950877 16p12.2 16 21843475T> A null K N 120 120 missense 0.421 benign 0.02 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1253149345 16p12.2 16 21843467G> A null A V 123 123 missense 0.855 possibly damaging 0.02 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1317861531 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p12.2 16 21843464T> G null K T 124 124 missense 0.977 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,NCI-TCGA,TOPMed,gnomAD rs781537940 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p12.2 16 21843459G> A null R C 126 126 missense 0.021 benign 0.04 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs572442379 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p12.2 16 21843458C> T null R H 126 126 3.99E-4 missense 0.01 benign 1.0 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1256916696 16p12.2 16 21843456T> C null K E 127 127 missense 0.907 possibly damaging 0.1 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1312439263 16p12.2 16 21843452C> T null R K 128 128 missense 0.172 benign 0.98 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1395162596 16p12.2 16 21843448C> G null K N 129 129 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1180187702 16p12.2 16 21843449T> G null K T 129 129 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1376438499 16p12.2 16 21843447C> A null V L 130 130 missense 0.995 probably damaging 0.05 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1376438499 16p12.2 16 21843447C> T null V M 130 130 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1299399431 16p12.2 16 21843441T> C null T A 132 132 missense 0.009 benign 0.1 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs878977102 16p12.2 16 21843440G> T null T K 132 132 missense 0.01 benign 0.22 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs878977102 16p12.2 16 21843440G> A null T M 132 132 missense 0.852 possibly damaging 0.15 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1170016664 16p12.2 16 21843434A> G null I T 134 134 missense 0.64 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,gnomAD rs747355914 16p12.2 16 21843431T> A null N I 135 135 missense 0.999 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs758861707 16p12.2 16 21843428T> G null H P 136 136 missense 0.513 possibly damaging 0.17 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1186491673 16p12.2 16 21843427A> T null H Q 136 136 missense 0.358 benign 0.4 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs758861707 16p12.2 16 21843428T> C null H R 136 136 missense 0.011 benign 0.89 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1388226430 16p12.2 16 21843425T> A null H L 137 137 missense 0.939 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1422296181 16p12.2 16 21843424A> C null H Q 137 137 missense 0.939 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1252864961 16p12.2 16 21843413T> C null N S 141 141 missense 0.28 benign 0.19 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed rs1332729467 16p12.2 16 21843411C> T null G R 142 142 missense 1.0 probably damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 TOPMed,gnomAD rs1457401411 16p12.2 16 21843406C> A null K N 143 143 missense 0.888 possibly damaging 0.0 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1488892359 16p12.2 16 21843405T> C null R G 144 144 missense 0.061 benign 0.01 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 ExAC,TOPMed,gnomAD rs201682183 16p12.2 16 21843398G> C null T S 146 146 missense 0.995 probably damaging 0.02 deleterious - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1357666926 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 16p12.2 16 21843396C> T null A T 147 147 missense 0.436 benign 0.26 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 gnomAD rs1242996730 16p12.2 16 21843390T> C null K E 149 149 missense 0.065 benign 0.65 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 Ensembl rs1555509339 16p12.2 16 21839309T> C null K E 151 151 missense 0.075 benign 0.15 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 Ensembl rs1555509338 16p12.2 16 21839297G> A null R C 155 155 missense 0.969 probably damaging 0.07 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 Ensembl rs1555509332 16p12.2 16 21839076C> T null G E 192 192 missense 0.003 benign 0.12 tolerated - low confidence 0 A0A087WT63 NPIPB4 Nuclear pore complex-interacting protein family member B4 Ensembl rs1555509331 16p12.2 16 21838987C> T null A T 222 222 missense 0.694 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1465779538 1q21.2 1 150579527A> G null F L 2 2 missense 0.0 unknown 0.23 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1206343665 1q21.2 1 150579520A> T null L H 4 4 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1445925900 1q21.2 1 150579508G> A null A V 8 8 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1229708032 1q21.2 1 150579497G> A null L F 12 12 missense 0.0 unknown 0.0 deleterious - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed rs779751278 1q21.2 1 150579492G> T null N K 13 13 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,ExAC,TOPMed,gnomAD rs587612386 1q21.2 1 150579491G> A null L F 14 14 2.0E-4 missense 0.0 unknown 0.12 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,ExAC,TOPMed,gnomAD rs587612386 1q21.2 1 150579491G> C null L V 14 14 2.0E-4 missense 0.0 unknown 0.42 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1012747207 1q21.2 1 150579481C> G null G A 17 17 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1012747207 1q21.2 1 150579481C> T null G E 17 17 missense 0.0 unknown 0.13 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs932863734 1q21.2 1 150579482C> G null G R 17 17 missense 0.0 unknown 0.32 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs932863734 1q21.2 1 150579482C> T null G R 17 17 missense 0.0 unknown 0.32 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1012747207 1q21.2 1 150579481C> A null G V 17 17 missense 0.0 unknown 0.17 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs932863734 1q21.2 1 150579482C> A null G W 17 17 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs753196937 1q21.2 1 150579479C> A null G W 18 18 missense 0.0 unknown 0.04 deleterious - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs1490867890 1q21.2 1 150579475G> C null A G 19 19 missense 0.0 unknown 0.09 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs1249841412 1q21.2 1 150579476C> G null A P 19 19 missense 0.0 unknown 0.05 deleterious - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs1490867890 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 150579475G> A null A V 19 19 missense 0.0 unknown 0.4 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs755515463 1q21.2 1 150579470A> C null L V 21 21 missense 0.0 unknown 0.34 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs766507232 1q21.2 1 150579466C> G null G A 22 22 missense 0.0 unknown 0.72 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 Ensembl rs1560317102 1q21.2 1 150579464C> T null A T 23 23 missense 0.0 unknown 0.19 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs750616819 1q21.2 1 150579463G> A null A V 23 23 missense 0.0 unknown 0.11 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs761537521 1q21.2 1 150579461C> T null G S 24 24 missense 0.0 unknown 0.33 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs925013521 1q21.2 1 150579455C> T null G S 26 26 missense 0.0 unknown 0.73 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs936472592 1q21.2 1 150579451C> T null G D 27 27 missense 0.0 unknown 0.47 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs768684341 1q21.2 1 150579449C> G null A P 28 28 missense 0.0 unknown 0.28 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs768684341 1q21.2 1 150579449C> T null A T 28 28 missense 0.0 unknown 0.36 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs775135247 1q21.2 1 150579445G> A null T I 29 29 missense 0.0 unknown 0.02 deleterious - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs771486484 1q21.2 1 150579443G> A null R C 30 30 missense 0.0 unknown 0.01 deleterious - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1024728611 1q21.2 1 150579442C> T null R H 30 30 missense 0.0 unknown 0.11 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs745465126 1q21.2 1 150579439G> A null P L 31 31 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1188100637 1q21.2 1 150579440G> A null P S 31 31 missense 0.0 unknown 0.28 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs770152297 1q21.2 1 150579436C> G null G A 32 32 missense 0.0 unknown 1.0 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs770152297 1q21.2 1 150579436C> T null G E 32 32 missense 0.0 unknown 0.65 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs902324572 1q21.2 1 150579433C> T null G E 33 33 missense 0.0 unknown 0.08 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 Ensembl rs1013421918 1q21.2 1 150579427A> G null L P 35 35 missense 0.0 benign 0.05 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs764147144 1q21.2 1 150578960T> C null T A 38 38 missense 0.0 benign 0.29 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1047911810 1q21.2 1 150578957C> A null G C 39 39 missense 1.0 probably damaging 0.03 deleterious - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1047911810 1q21.2 1 150578957C> T null G S 39 39 missense 0.999 probably damaging 0.27 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs775704707 1q21.2 1 150578953G> A null A V 40 40 missense 0.009 benign 0.27 tolerated - low confidence 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs745630300 1q21.2 1 150578948C> G null D H 42 42 missense 0.814 possibly damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs745630300 1q21.2 1 150578948C> T null D N 42 42 missense 0.502 possibly damaging 0.02 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,TOPMed,gnomAD rs76955524 1q21.2 1 150578945T> C null T A 43 43 2.0E-4 missense 0.0 benign 0.7 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,TOPMed,gnomAD rs76955524 1q21.2 1 150578945T> G null T P 43 43 2.0E-4 missense 0.019 benign 0.21 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs1398107858 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 150578944G> C null T R 43 43 missense 0.07 benign 0.4 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs749246338 1q21.2 1 150578940C> A null K N 44 44 missense 0.872 possibly damaging 0.33 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs749246338 1q21.2 1 150578940C> G null K N 44 44 missense 0.872 possibly damaging 0.33 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs769198905 1q21.2 1 150578934C> A null M I 46 46 missense 0.0 benign 0.47 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs777267667 1q21.2 1 150578936T> C null M V 46 46 missense 0.0 benign 0.42 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1184313814 1q21.2 1 150578929C> T null R K 48 48 missense 0.003 benign 0.97 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs754720979 1q21.2 1 150578930T> A null R W 48 48 missense 0.229 benign 0.02 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs750798187 1q21.2 1 150578920G> T null A D 51 51 missense 0.071 benign 0.16 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1434091474 1q21.2 1 150578921C> A null A S 51 51 missense 0.003 benign 0.34 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs991095360 1q21.2 1 150578917G> A null T I 52 52 missense 0.015 benign 0.14 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs991095360 1q21.2 1 150578917G> C null T S 52 52 missense 0.001 benign 0.63 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ESP,TOPMed,gnomAD rs140911000 1q21.2 1 150578915T> C null S G 53 53 missense 0.001 benign 0.48 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ESP,ExAC,TOPMed,gnomAD rs376036256 1q21.2 1 150578914C> T null S N 53 53 missense 0.0 benign 0.44 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs754305788 1q21.2 1 150578912T> C null R G 54 54 missense 0.991 probably damaging 0.38 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs1257167897 1q21.2 1 150578911C> T null R K 54 54 missense 0.93 probably damaging 0.44 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs764177247 1q21.2 1 150578908T> C null K R 55 55 missense 0.007 benign 0.43 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs752811590 1q21.2 1 150578905G> A null A V 56 56 missense 0.787 possibly damaging 0.07 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs759811500 1q21.2 1 150578899T> G null E A 58 58 missense 0.997 probably damaging 0.25 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs759811500 1q21.2 1 150578899T> C null E G 58 58 missense 0.998 probably damaging 0.21 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1407051139 1q21.2 1 150578897T> C null T A 59 59 missense 0.972 probably damaging 0.11 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1343989419 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 1q21.2 1 150578896G> A null T I 59 59 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs762886447 1q21.2 1 150578884A> G null V A 63 63 missense 0.043 benign 0.01 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs866377910 1q21.2 1 150578878T> C null D G 65 65 missense 0.007 benign 0.29 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ESP,NCI-TCGA,TOPMed,gnomAD rs367658301 cosmic curated [Cosmic]: prostate, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:435 1q21.2 1 150578879C> T null D N 65 65 missense 0.167 benign 0.12 tolerated 1 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1408818148 1q21.2 1 150578873C> T null V M 67 67 missense 0.942 probably damaging 0.01 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs769310837 1q21.2 1 150578862G> T null N K 70 70 missense 0.01 benign 1.0 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1275285250 1q21.2 1 150578854G> T null T K 73 73 missense 0.09 benign 0.28 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1275285250 1q21.2 1 150578854G> C null T R 73 73 missense 0.029 benign 0.34 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11580946 pubmed:10634649,pubmed:14702039 1q21.2 1 150578851G> A null A V 74 74 0.003195 missense 0.104 benign 0.25 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1158923515 1q21.2 1 150578487C> T null M I 78 78 missense 0.987 probably damaging 0.07 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ESP,ExAC,TOPMed,dbSNP,gnomAD rs140449444 pubmed:18987736 1q21.2 1 150578489T> G null M L 78 78 missense 0.967 probably damaging 0.01 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1014045427 1q21.2 1 150578486G> A null L F 79 79 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1014045427 1q21.2 1 150578486G> T null L I 79 79 missense 0.994 probably damaging 0.37 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC rs761775505 1q21.2 1 150578483G> C null R G 80 80 missense 0.814 possibly damaging 0.01 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs1373245226 1q21.2 1 150578482C> T null R Q 80 80 missense 0.107 benign 0.21 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1181707820 1q21.2 1 150578480T> G null K Q 81 81 missense 0.624 possibly damaging 0.06 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1470666173 1q21.2 1 150578477G> C null L V 82 82 missense 0.99 probably damaging 0.02 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 Ensembl rs904916199 1q21.2 1 150578473T> G null D A 83 83 missense 0.022 benign 0.1 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1234790681 1q21.2 1 150578469G> C null I M 84 84 missense 0.972 probably damaging 0.12 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 Ensembl rs941157830 1q21.2 1 150578471T> C null I V 84 84 missense 0.314 benign 0.06 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs908417280 1q21.2 1 150578467T> C null K R 85 85 missense 0.096 benign 0.13 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs763650593 1q21.2 1 150578465T> C null N D 86 86 missense 0.362 benign 0.4 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs1182227353 1q21.2 1 150578457G> T null D E 88 88 missense 0.001 benign 0.45 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs760136148 1q21.2 1 150578453C> T null V M 90 90 missense 0.769 possibly damaging 0.18 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 Ensembl rs1560315852 1q21.2 1 150578446G> A null S L 92 92 missense 0.415 benign 0.72 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs201430561 1q21.2 1 150578440G> A null S F 94 94 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1294528481 1q21.2 1 150578437C> A null R L 95 95 missense 0.506 possibly damaging 0.09 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1244487189 1q21.2 1 150578434A> C null V G 96 96 missense 0.823 possibly damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs745600433 1q21.2 1 150578428A> C null I S 98 98 missense 0.009 benign 0.54 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1485362622 1q21.2 1 150578425T> G null H P 99 99 missense 0.728 possibly damaging 0.03 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1485362622 1q21.2 1 150578425T> C null H R 99 99 missense 0.003 benign 0.06 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs773499470 1q21.2 1 150578423C> A null V F 100 100 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs770153208 1q21.2 1 150578417T> C null S G 102 102 missense 0.107 benign 0.06 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ESP,ExAC,TOPMed,gnomAD rs370931690 1q21.2 1 150578410C> T null G D 104 104 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs748601772 1q21.2 1 150578411C> G null G R 104 104 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs755515840 1q21.2 1 150578408C> G null V L 105 105 missense 0.036 benign 0.02 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1161571446 1q21.2 1 150578387C> T null V M 112 112 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ESP,gnomAD rs377335780 1q21.2 1 150578377A> G null I T 115 115 missense 0.955 probably damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1367961172 1q21.2 1 150578365G> C null A G 119 119 missense 0.988 probably damaging 0.04 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 Ensembl rs1560315806 1q21.2 1 150578360C> T null V M 121 121 missense 0.999 probably damaging 0.04 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs1432344861 1q21.2 1 150578356G> A null A V 122 122 missense 0.995 probably damaging 0.06 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs765067618 1q21.2 1 150578349G> C null H Q 124 124 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs750666398 1q21.2 1 150578351G> A null H Y 124 124 missense 0.993 probably damaging 0.12 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1193247274 1q21.2 1 150578346C> G null L F 125 125 missense 0.996 probably damaging 0.04 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC rs757141102 1q21.2 1 150578339T> C null I V 128 128 missense 0.001 benign 0.17 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs945575050 1q21.2 1 150578336T> C null N D 129 129 missense 0.045 benign 0.14 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs753788039 1q21.2 1 150578333G> C null Q E 130 130 missense 0.619 possibly damaging 0.02 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,ExAC,gnomAD rs142581495 1q21.2 1 150578330C> G null E Q 131 131 3.99E-4 missense 0.97 probably damaging 0.06 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1356326664 1q21.2 1 150578327T> C null S G 132 132 missense 0.078 benign 0.17 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,ExAC,TOPMed,gnomAD rs587731965 1q21.2 1 150578326C> T null S N 132 132 2.0E-4 missense 0.001 benign 0.4 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 Ensembl rs922525749 1q21.2 1 150578325G> C null S R 132 132 missense 0.575 possibly damaging 0.14 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,ExAC,TOPMed,gnomAD rs587731965 1q21.2 1 150578326C> G null S T 132 132 2.0E-4 missense 0.055 benign 0.14 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs774856969 1q21.2 1 150578321T> C null I V 134 134 missense 0.33 benign 0.44 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1305287084 1q21.2 1 150578316T> A null E D 135 135 missense 0.0 benign 0.25 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs987201091 1q21.2 1 150578315G> C null P A 136 136 missense 0.09 benign 0.74 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs934123900 1q21.2 1 150578306C> T null E K 139 139 missense 0.87 possibly damaging 0.04 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs921336171 1q21.2 1 150578305T> A null E V 139 139 missense 0.909 probably damaging 0.04 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1301133725 1q21.2 1 150578303T> C null S G 140 140 missense 0.134 benign 0.28 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 Ensembl rs1560315739 1q21.2 1 150578300T> C null I V 141 141 missense 0.075 benign 0.02 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 Ensembl rs752304452 1q21.2 1 150578292G> T null D E 143 143 missense 0.748 possibly damaging 0.09 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1386022459 1q21.2 1 150578294C> T null D N 143 143 missense 0.916 probably damaging 0.03 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,ExAC,TOPMed,gnomAD rs587675079 1q21.2 1 150578291C> A null V F 144 144 2.0E-4 missense 0.116 benign 0.15 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,ExAC,TOPMed,gnomAD rs587675079 1q21.2 1 150578291C> T null V I 144 144 2.0E-4 missense 0.001 benign 0.48 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs777027172 1q21.2 1 150578284A> C null V G 146 146 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ESP,ExAC,TOPMed,gnomAD rs150698207 1q21.2 1 150578285C> A null V L 146 146 missense 0.234 benign 0.56 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ESP,ExAC,TOPMed,gnomAD rs150698207 1q21.2 1 150578285C> G null V L 146 146 missense 0.234 benign 0.56 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1371459638 1q21.2 1 150578282T> C null R G 147 147 missense 0.14 benign 0.21 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs769033449 1q21.2 1 150578281C> T null R K 147 147 missense 0.003 benign 0.42 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,ExAC,gnomAD rs587773044 1q21.2 1 150578278G> C null T R 148 148 2.0E-4 missense 0.535 possibly damaging 0.26 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1431891445 1q21.2 1 150578276T> C null K E 149 149 missense 0.998 probably damaging 0.06 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs1223718671 1q21.2 1 150578272C> T null R Q 150 150 missense 0.145 benign 0.02 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs758143144 1q21.2 1 150578269T> G null D A 151 151 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs758143144 1q21.2 1 150578269T> A null D V 151 151 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs746032848 1q21.2 1 150578260A> T null V D 154 154 missense 0.767 possibly damaging 0.05 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs772210666 1q21.2 1 150578261C> T null V I 154 154 missense 0.003 benign 0.3 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1198101082 1q21.2 1 150578258T> C null K E 155 155 missense 0.422 benign 0.03 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs1393566860 1q21.2 1 150578256T> A null K N 155 155 missense 0.901 possibly damaging 0.05 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs779312384 1q21.2 1 150578255G> T null Q K 156 156 missense 0.524 possibly damaging 0.07 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1256913299 1q21.2 1 150578254T> C null Q R 156 156 missense 0.782 possibly damaging 0.11 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1223742436 1q21.2 1 150578251C> T null R K 157 157 missense 0.003 benign 0.43 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs749306667 1q21.2 1 150578249C> T null G S 158 158 missense 1.0 probably damaging 0.18 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed rs1169391999 1q21.2 1 150578248C> A null G V 158 158 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs779185660 1q21.2 1 150577490T> C null D G 160 160 missense 0.343 benign 0.01 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs779185660 1q21.2 1 150577490T> A null D V 160 160 missense 0.411 benign 0.03 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1375980387 1q21.2 1 150577491C> A null D Y 160 160 missense 0.848 possibly damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1453423498 1q21.2 1 150577478T> C null E G 164 164 missense 0.003 benign 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 1000Genomes,ExAC,gnomAD rs587629175 1q21.2 1 150577474G> T null F L 165 165 2.0E-4 missense 0.977 probably damaging 0.0 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1332412286 1q21.2 1 150577473A> G null F L 166 166 missense 0.982 probably damaging 0.02 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ESP,ExAC,TOPMed,gnomAD rs368871667 1q21.2 1 150577468A> T null H Q 167 167 missense 0.87 possibly damaging 0.25 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1414161949 1q21.2 1 150577470G> A null H Y 167 167 missense 0.958 probably damaging 0.05 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 Ensembl rs12036622 1q21.2 1 150577464C> T null E K 169 169 missense 0.191 benign 0.1 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1160713152 1q21.2 1 150577457A> G null L P 171 171 missense 0.825 possibly damaging 0.29 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs12036617 1q21.2 1 150577455C> T null E K 172 172 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs12036617 1q21.2 1 150577455C> G null E Q 172 172 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1294653385 1q21.2 1 150577448C> T null G D 174 174 missense 0.653 possibly damaging 0.12 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,TOPMed,gnomAD rs752536553 1q21.2 1 150577421G> A null A V 183 183 missense 0.974 probably damaging 0.12 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1240769466 1q21.2 1 150577398C> T null G S 191 191 missense 0.798 possibly damaging 0.5 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 dbSNP,gnomAD rs1186393634 1q21.2 1 150577397C> A null G V 191 191 missense 0.988 probably damaging 0.06 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 ExAC,gnomAD rs754918967 1q21.2 1 150577388T> A null Y F 194 194 missense 0.163 benign 0.12 tolerated 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 gnomAD rs1352760551 1q21.2 1 150577382A> G null I T 196 196 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1270654728 1q21.2 1 150577379C> T null R K 197 197 missense 0.986 probably damaging 0.05 deleterious 0 A0A087WT64 MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 TOPMed,gnomAD rs1432663701 1q21.2 1 150577378T> A null R S 197 197 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs766966613 19q13.42 19 54173114C> T null E K 2 2 missense 0.856 possibly damaging 0.01 deleterious - low confidence 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1385012022 19q13.42 19 54173110T> C null E G 3 3 missense 0.011 benign 0.19 tolerated - low confidence 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs141084730 19q13.42 19 54173104G> A null P L 5 5 missense 0.007 benign 0.44 tolerated - low confidence 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs761337113 19q13.42 19 54173105G> T null P T 5 5 missense 0.197 benign 0.2 tolerated - low confidence 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs1568762494 19q13.42 19 54173097C> A null L F 7 7 missense 0.185 benign 0.06 tolerated - low confidence 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs1568762479 19q13.42 19 54173095T> A null E V 8 8 missense 0.255 benign 0.01 deleterious - low confidence 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs777191546 19q13.42 19 54173092G> C null S * 9 9 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs777191546 19q13.42 19 54173092G> A null S L 9 9 missense 0.287 benign 0.12 tolerated - low confidence 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs760844084 19q13.42 19 54173074G> C null S C 15 15 missense 0.919 probably damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1179036974 19q13.42 19 54173072T> C null R G 16 16 missense 0.0 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1363284638 19q13.42 19 54173071C> T null R K 16 16 missense 0.062 benign 0.87 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1436921258 19q13.42 19 54173070C> A null R S 16 16 missense 0.005 benign 0.92 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1436921258 19q13.42 19 54173070C> G null R S 16 16 missense 0.005 benign 0.92 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs641738 19q13.42 19 54173068T> G null E A 17 17 0.3738 missense 0.0 benign 0.5 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs641738 19q13.42 19 54173068T> C null E G 17 17 0.3738 missense 0.0 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs641738 19q13.42 19 54173068T> A null E V 17 17 0.3738 missense 0.001 benign 0.11 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1404565731 19q13.42 19 54173064C> A null W C 18 18 missense 0.047 benign 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs778963184 19q13.42 19 54173059G> T null A D 20 20 missense 0.586 possibly damaging 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs778963184 19q13.42 19 54173059G> C null A G 20 20 missense 0.044 benign 0.09 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1197371709 19q13.42 19 54173057G> A null P S 21 21 missense 0.312 benign 0.22 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs372999559 19q13.42 19 54173054G> C null R G 22 22 missense 0.013 benign 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,TOPMed rs369523350 19q13.42 19 54173053C> T null R Q 22 22 missense 0.005 benign 0.15 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs372999559 19q13.42 19 54173054G> A null R W 22 22 missense 0.018 benign 0.05 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC rs779865092 19q13.42 19 54173051C> A null E * 23 23 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC rs755899305 19q13.42 19 54173050T> C null E G 23 23 missense 0.005 benign 0.11 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs750065088 19q13.42 19 54173048C> T null A T 24 24 missense 0.059 benign 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1246543181 19q13.42 19 54173041C> T null G E 26 26 missense 0.287 benign 0.45 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs181946084 19q13.42 19 54172101G> A null A V 27 27 0.001797 missense 0.005 benign 0.21 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs762064134 19q13.42 19 54172098G> C null P R 28 28 missense 0.102 benign 0.43 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1263554646 19q13.42 19 54172096A> G null C R 29 29 missense 0.0 benign 0.29 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs762961525 19q13.42 19 54172095C> G null C S 29 29 missense 0.003 benign 0.85 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs762961525 19q13.42 19 54172095C> T null C Y 29 29 missense 0.0 benign 0.44 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs375769076 19q13.42 19 54172087G> T null P T 32 32 missense 0.402 benign 0.64 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs371745905 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54172077G> A null S L 35 35 missense 0.062 benign 0.09 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs770599102 19q13.42 19 54172074A> T null L Q 36 36 missense 0.909 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1323156729 19q13.42 19 54172068G> A null S F 38 38 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs777512838 19q13.42 19 54172057C> T null E K 42 42 missense 0.029 benign 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1377408030 19q13.42 19 54172053A> T null L Q 43 43 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1337791300 19q13.42 19 54172048T> C null S G 45 45 missense 0.046 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1270135053 19q13.42 19 54172042C> A null A S 47 47 missense 0.575 possibly damaging 0.14 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs959852141 19q13.42 19 54172036G> C null L V 49 49 missense 0.015 benign 0.15 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs79148248 19q13.42 19 54172032C> T null R Q 50 50 0.002995 missense 0.286 benign 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs200450643 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54172033G> A null R W 50 50 3.99E-4 missense 0.98 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1191130303 19q13.42 19 54172030A> G null Y H 51 51 missense 0.924 probably damaging 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1191130303 19q13.42 19 54172030A> T null Y N 51 51 missense 0.867 possibly damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs557418786 19q13.42 19 54172027G> A null R * 52 52 3.99E-4 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs750865221 19q13.42 19 54172026C> T null R Q 52 52 missense 0.933 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1443287921 19q13.42 19 54172022G> T null D E 53 53 missense 0.0 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs767956014 19q13.42 19 54172021G> A null P S 54 54 missense 0.831 possibly damaging 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1218691141 19q13.42 19 54172017C> T null G E 55 55 missense 0.307 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs201205810 19q13.42 19 54172018C> T null G R 55 55 3.99E-4 missense 0.945 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140260406 19q13.42 19 54172015C> A null V L 56 56 0.001797 missense 0.098 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs763155881 19q13.42 19 54172011A> C null L R 57 57 missense 0.642 possibly damaging 0.15 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1475732910 19q13.42 19 54172008G> A null P L 58 58 missense 0.299 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146659053 19q13.42 19 54172004C> A null W C 59 59 3.99E-4 missense 0.093 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs146659053 19q13.42 19 54172004C> G null W C 59 59 3.99E-4 missense 0.093 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed rs765205776 19q13.42 19 54171999G> C null A G 61 61 missense 0.013 benign 0.17 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1181866704 19q13.42 19 54172000C> T null A T 61 61 missense 0.003 benign 0.35 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed rs765205776 19q13.42 19 54171999G> A null A V 61 61 missense 0.005 benign 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1212428233 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54171993T> C null E G 63 63 missense 0.025 benign 0.19 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs776387997 19q13.42 19 54171991C> A null E * 64 64 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs776387997 19q13.42 19 54171991C> T null E K 64 64 missense 0.287 benign 0.17 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1272821741 19q13.42 19 54171984T> C null E G 66 66 missense 0.011 benign 0.24 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs760483149 19q13.42 19 54171980C> G null E D 67 67 missense 0.025 benign 0.19 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs770868207 19q13.42 19 54171981T> A null E V 67 67 missense 0.543 possibly damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs940236917 19q13.42 19 54171966C> A null S I 72 72 missense 0.546 possibly damaging 0.14 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114495857 19q13.42 19 54171960T> C null K R 74 74 0.001597 missense 0.003 benign 0.16 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs747782845 19q13.42 19 54171951G> A null T I 77 77 missense 0.003 benign 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs530799137 19q13.42 19 54171949C> A null E * 78 78 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1370375891 19q13.42 19 54171948T> A null E V 78 78 missense 0.462 possibly damaging 0.05 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1053599045 19q13.42 19 54171945A> G null V A 79 79 missense 0.0 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs746409908 19q13.42 19 54171940G> A null Q * 81 81 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1391983542 19q13.42 19 54171939T> C null Q R 81 81 missense 0.012 benign 0.25 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1280241077 19q13.42 19 54171921G> A null P L 87 87 missense 0.059 benign 0.15 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs781494912 19q13.42 19 54171919G> A null H Y 88 88 missense 0.212 benign 0.99 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1386014635 19q13.42 19 54171912G> C null S C 90 90 missense 0.967 probably damaging 0.14 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs199540906 19q13.42 19 54171909C> T null R Q 91 91 2.0E-4 missense 0.939 probably damaging 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs757622814 19q13.42 19 54171910G> A null R W 91 91 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs758667082 19q13.42 19 54171901G> A null P S 94 94 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs752828716 19q13.42 19 54171897C> T null W * 95 95 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1290232096 19q13.42 19 54171896C> G null W C 95 95 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1290232096 19q13.42 19 54171896C> A null W C 95 95 missense 0.999 probably damaging 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs376272903 19q13.42 19 54171891A> C null M R 97 97 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs376272903 19q13.42 19 54171891A> G null M T 97 97 missense 0.839 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs368252966 19q13.42 19 54171892T> C null M V 97 97 missense 0.17 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs760679108 19q13.42 19 54171879C> T null R Q 101 101 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs150568137 19q13.42 19 54171880G> A null R W 101 101 missense 0.908 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs904432620 19q13.42 19 54171872G> C null H Q 103 103 missense 0.459 possibly damaging 0.13 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs77215230 19q13.42 19 54171874G> A null H Y 103 103 0.1254 missense 0.012 benign 0.48 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC rs747542723 19q13.42 19 54169658T> G null Q P 105 105 missense 0.377 benign 0.26 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs773656931 19q13.42 19 54169653T> C null N D 107 107 missense 0.062 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs772496275 19q13.42 19 54169652T> A null N I 107 107 missense 0.003 benign 0.14 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1182425370 19q13.42 19 54169650C> T null A T 108 108 missense 0.012 benign 0.54 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1361165574 19q13.42 19 54169647T> C null S G 109 109 missense 0.007 benign 0.35 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs533404266 19q13.42 19 54169646C> A null S I 109 109 2.0E-4 missense 0.063 benign 0.16 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs993149707 19q13.42 19 54169645G> C null S R 109 109 missense 0.025 benign 0.41 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs533404266 19q13.42 19 54169646C> G null S T 109 109 2.0E-4 missense 0.012 benign 0.54 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,gnomAD rs559982900 19q13.42 19 54169638G> A null Q * 112 112 2.0E-4 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1470514680 19q13.42 19 54169634A> C null V G 113 113 missense 0.007 benign 0.38 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs749498247 19q13.42 19 54169628T> C null Y C 115 115 missense 0.007 benign 0.13 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1318888235 19q13.42 19 54169620C> T null G R 118 118 missense 0.059 benign 0.23 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1016185463 19q13.42 19 54169610G> A null T M 121 121 missense 0.017 benign 0.18 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1016185463 19q13.42 19 54169610G> C null T R 121 121 missense 0.005 benign 0.62 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs751366492 19q13.42 19 54169606G> T null D E 122 122 missense 0.003 benign 0.98 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs757213180 19q13.42 19 54169607T> C null D G 122 122 missense 0.0 benign 0.46 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs139987490 19q13.42 19 54169605G> C null R G 123 123 missense 0.0 benign 0.15 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs572772104 19q13.42 19 54169604C> G null R P 123 123 2.0E-4 missense 0.124 benign 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs572772104 19q13.42 19 54169604C> T null R Q 123 123 2.0E-4 missense 0.0 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs920951588 19q13.42 19 54169602A> G null W R 124 124 missense 0.043 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1224934522 19q13.42 19 54169599C> T null A T 125 125 missense 0.012 benign 0.39 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs976440874 19q13.42 19 54169598G> A null A V 125 125 missense 0.092 benign 0.15 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs773710360 19q13.42 19 54169595C> G null R P 126 126 missense 0.033 benign 0.05 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs773710360 19q13.42 19 54169595C> T null R Q 126 126 missense 0.022 benign 0.12 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,NCI-TCGA,TOPMed,gnomAD rs758987586 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54169596G> A null R W 126 126 missense 0.828 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs748668730 19q13.42 19 54169586C> G null R P 129 129 missense 0.015 benign 0.1 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs748668730 19q13.42 19 54169586C> T null R Q 129 129 missense 0.015 benign 0.14 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs560568149 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54169587G> A null R W 129 129 2.0E-4 missense 0.003 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1404591565 19q13.42 19 54169573C> G null E D 133 133 missense 0.029 benign 0.26 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs769028834 19q13.42 19 54169568G> C null T R 135 135 missense 0.419 benign 0.1 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs554277292 19q13.42 19 54169563C> G null E Q 137 137 missense 0.098 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs780366805 19q13.42 19 54169554G> A null R * 140 140 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,NCI-TCGA,gnomAD rs770000516 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54169553C> T null R Q 140 140 missense 0.003 benign 0.54 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs781317965 19q13.42 19 54169548G> C null L V 142 142 missense 0.059 benign 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs377252057 19q13.42 19 54169536C> A null A S 146 146 missense 0.007 benign 0.13 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs377252057 19q13.42 19 54169536C> T null A T 146 146 missense 0.182 benign 0.09 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1193886083 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54169535G> A null A V 146 146 missense 0.012 benign 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1207128546 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54169532C> T null W * 147 147 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs147493600 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 19q13.42 19 54169531C> T null W * 147 147 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs147493600 19q13.42 19 54169531C> G null W C 147 147 missense 0.959 probably damaging 0.15 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs147493600 19q13.42 19 54169531C> A null W C 147 147 missense 0.959 probably damaging 0.15 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1275279150 19q13.42 19 54169533A> C null W G 147 147 missense 0.085 benign 0.55 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1480413711 19q13.42 19 54169523T> C null K R 150 150 missense 0.085 benign 0.74 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1314520283 19q13.42 19 54169520C> G null R T 151 151 missense 0.36 benign 0.51 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs1568750158 19q13.42 19 54169521T> A null R W 151 151 missense 0.882 possibly damaging 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs868075641 19q13.42 19 54169514C> T null G E 153 153 missense 0.607 possibly damaging 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs920641700 19q13.42 19 54169515C> T null G R 153 153 missense 0.233 benign 0.12 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs920641700 19q13.42 19 54169515C> G null G R 153 153 missense 0.233 benign 0.12 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs920641700 19q13.42 19 54169515C> A null G W 153 153 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1342520798 19q13.42 19 54169512C> G null G R 154 154 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1423865054 19q13.42 19 54168678G> A null Q * 155 155 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs752551900 19q13.42 19 54168676C> G null Q H 155 155 missense 0.139 benign 0.21 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs754668617 19q13.42 19 54168669C> A null A S 158 158 missense 0.218 benign 0.05 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs754668617 19q13.42 19 54168669C> T null A T 158 158 missense 0.213 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1297993557 19q13.42 19 54168666C> T null G S 159 159 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1199399120 19q13.42 19 54168662G> T null T K 160 160 missense 0.806 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1308935005 19q13.42 19 54168657A> G null S P 162 162 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs114374694 19q13.42 19 54168653T> C null Y C 163 163 7.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1448014556 19q13.42 19 54168650A> T null F Y 164 164 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs143105109 19q13.42 19 54168648A> T null S T 165 165 2.0E-4 missense 0.168 benign 0.05 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1323205110 19q13.42 19 54168641A> G null L P 167 167 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs764731755 19q13.42 19 54168639G> A null R C 168 168 missense 0.636 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,gnomAD rs200021671 19q13.42 19 54168638C> T null R H 168 168 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,gnomAD rs200021671 19q13.42 19 54168638C> A null R L 168 168 2.0E-4 missense 0.983 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,gnomAD rs200021671 19q13.42 19 54168638C> G null R P 168 168 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs759869579 19q13.42 19 54168633G> C null L V 170 170 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1433660028 19q13.42 19 54168630G> T null L I 171 171 missense 0.984 probably damaging 0.05 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC rs776863217 19q13.42 19 54168626A> G null L P 172 172 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein NCI-TCGA rs746618661 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54168622_54168624de l null L null 173 173 inframe deletion 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs114857532 19q13.42 19 54168619G> C null N K 174 174 2.0E-4 missense 0.938 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs772052187 19q13.42 19 54168618C> G null V L 175 175 missense 0.028 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs772052187 19q13.42 19 54168618C> A null V L 175 175 missense 0.028 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs772052187 19q13.42 19 54168618C> T null V M 175 175 missense 0.265 benign 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1188045009 19q13.42 19 54168611G> A null A V 177 177 missense 0.759 possibly damaging 0.28 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs530403419 19q13.42 19 54168598C> T null M I 181 181 2.0E-4 missense 0.003 benign 0.55 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs748906909 19q13.42 19 54168599A> G null M T 181 181 missense 0.0 benign 0.31 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs144224072 19q13.42 19 54168597C> T null A T 182 182 missense 0.073 benign 0.18 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs867453701 19q13.42 19 54168592G> T null C * 183 183 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs750009604 19q13.42 19 54168594A> G null C R 183 183 missense 0.894 possibly damaging 0.09 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs750009604 19q13.42 19 54168594A> T null C S 183 183 missense 0.098 benign 0.69 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs149646954 19q13.42 19 54168590A> G null M T 184 184 0.002796 missense 0.642 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed rs767112627 19q13.42 19 54168591T> C null M V 184 184 missense 0.073 benign 0.1 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs753214634 19q13.42 19 54168587G> T null T K 185 185 missense 0.022 benign 0.09 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1321963543 19q13.42 19 54168581A> T null L Q 187 187 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs759918724 19q13.42 19 54168578G> T null P H 188 188 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1415924353 19q13.42 19 54168575G> T null T N 189 189 missense 0.937 probably damaging 0.18 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1394281998 19q13.42 19 54168573A> G null W R 190 190 missense 0.968 probably damaging 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs766687982 19q13.42 19 54168569A> T null L * 191 191 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1392176321 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54168566C> T null G E 192 192 missense 0.001 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1181814718 19q13.42 19 54168563C> G null G A 193 193 missense 0.22 benign 0.11 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs138303118 19q13.42 19 54168558G> C null P A 195 195 missense 0.615 possibly damaging 0.47 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs748109380 19q13.42 19 54168557G> A null P L 195 195 missense 0.073 benign 0.51 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs138303118 19q13.42 19 54168558G> A null P S 195 195 missense 0.275 benign 0.47 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1013819415 19q13.42 19 54168554G> C null P R 196 196 missense 0.982 probably damaging 0.45 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1206580967 19q13.42 19 54168552C> T null G S 197 197 missense 0.382 benign 0.25 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1268997407 19q13.42 19 54168549G> T null P T 198 198 missense 0.954 probably damaging 0.31 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs768445216 19q13.42 19 54168546G> C null P A 199 199 missense 0.933 probably damaging 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1299231259 19q13.42 19 54168545G> A null P L 199 199 missense 0.954 probably damaging 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs577693697 19q13.42 19 54168542C> A null G V 200 200 missense 0.018 benign 0.27 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1284377716 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54168536T> C null D G 202 202 missense 0.0 benign 0.24 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1378035323 19q13.42 19 54168537C> A null D Y 202 202 missense 0.712 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1451270244 19q13.42 19 54168533A> G null I T 203 203 missense 0.0 benign 0.59 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1449972122 19q13.42 19 54168534T> C null I V 203 203 missense 0.0 benign 0.7 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1333700680 19q13.42 19 54168530G> T null S Y 204 204 missense 0.681 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,NCI-TCGA,gnomAD rs779701401 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54168527G> A null S L 205 205 missense 0.046 benign 0.2 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1372305391 19q13.42 19 54168524G> A null P L 206 206 missense 0.018 benign 0.58 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1404788873 19q13.42 19 54168519C> G null G R 208 208 missense 0.987 probably damaging 0.26 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1414814348 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54168515G> A null S F 209 209 missense 0.007 benign 0.33 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs905389452 19q13.42 19 54168506G> A null P L 212 212 missense 0.422 benign 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs905389452 19q13.42 19 54168506G> C null P R 212 212 missense 0.987 probably damaging 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1290174494 19q13.42 19 54168503T> C null H R 213 213 missense 0.003 benign 0.54 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs756777812 19q13.42 19 54168504G> A null H Y 213 213 missense 0.005 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1218774360 19q13.42 19 54168500G> A null S F 214 214 missense 0.182 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1287383936 19q13.42 19 54168501A> T null S T 214 214 missense 0.003 benign 0.45 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1285904573 19q13.42 19 54168494C> T null G D 216 216 missense 0.954 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1320533746 19q13.42 19 54168479G> C null A G 221 221 missense 0.096 benign 0.29 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs949485887 19q13.42 19 54168465T> A null N Y 226 226 missense 0.105 benign 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1410173711 19q13.42 19 54168449T> G null E A 231 231 missense 0.041 benign 0.25 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1368439054 19q13.42 19 54168450C> T null E K 231 231 missense 0.059 benign 0.3 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1218632157 19q13.42 19 54168292C> T null G S 232 232 missense 0.559 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1368183737 19q13.42 19 54168291C> A null G V 232 232 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1432934641 19q13.42 19 54168279C> A null W L 236 236 missense 0.596 possibly damaging 0.89 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs11669183 19q13.42 19 54168277A> C null S A 237 237 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC rs775394292 19q13.42 19 54168276G> C null S C 237 237 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1015179055 19q13.42 19 54168268A> C null F V 240 240 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs980931787 19q13.42 19 54168255T> G null Y S 244 244 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs969433966 19q13.42 19 54168252G> A null P L 245 245 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs969433966 19q13.42 19 54168252G> C null P R 245 245 missense 0.999 probably damaging 0.09 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1006404137 19q13.42 19 54168253G> T null P T 245 245 missense 0.998 probably damaging 0.67 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs780933479 19q13.42 19 54168250G> C null P A 246 246 missense 0.018 benign 0.83 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs746581224 19q13.42 19 54168246C> T null R H 247 247 missense 0.046 benign 0.09 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs746581224 19q13.42 19 54168246C> A null R L 247 247 missense 0.291 benign 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1247036931 19q13.42 19 54168241G> A null R C 249 249 missense 0.761 possibly damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs147241845 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54168240C> T null R H 249 249 5.99E-4 missense 0.005 benign 0.38 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1465965083 19q13.42 19 54168237A> C null L R 250 250 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs905484182 19q13.42 19 54168234G> T null A E 251 251 missense 0.82 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs905484182 19q13.42 19 54168234G> A null A V 251 251 missense 0.613 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,gnomAD rs551090205 19q13.42 19 54168224G> T null Y * 254 254 2.0E-4 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,gnomAD rs569592750 19q13.42 19 54168225T> C null Y C 254 254 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs755555480 19q13.42 19 54168226A> C null Y D 254 254 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,gnomAD rs569592750 19q13.42 19 54168225T> G null Y S 254 254 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1217971167 19q13.42 19 54168219C> G null C S 256 256 missense 0.152 benign 0.11 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs780492816 19q13.42 19 54168216C> A null W L 257 257 missense 0.026 benign 0.25 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1302675733 19q13.42 19 54168213G> C null A G 258 258 missense 0.287 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1466839014 19q13.42 19 54168208C> T null A T 260 260 missense 0.099 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs374477729 19q13.42 19 54168207G> A null A V 260 260 missense 0.024 benign 0.28 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1449389378 19q13.42 19 54168205C> T null V I 261 261 missense 0.003 benign 0.4 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1389078262 19q13.42 19 54168201C> A null G V 262 262 missense 0.847 possibly damaging 0.57 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1046543259 19q13.42 19 54168195A> T null I N 264 264 missense 0.694 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1046543259 19q13.42 19 54168195A> G null I T 264 264 missense 0.197 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1253590907 19q13.42 19 54168190G> A null L F 266 266 missense 0.7 possibly damaging 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs201600036 19q13.42 19 54168184G> A null L F 268 268 2.0E-4 missense 0.067 benign 0.14 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1257696761 19q13.42 19 54168183A> T null L H 268 268 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs751688808 19q13.42 19 54168174T> C null H R 271 271 missense 0.012 benign 0.41 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1275507348 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54168175G> A null H Y 271 271 missense 0.713 possibly damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1338957454 19q13.42 19 54168172G> A null R C 272 272 missense 0.336 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs764052215 19q13.42 19 54168171C> T null R H 272 272 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs765150409 19q13.42 19 54165562C> G null V L 274 274 missense 0.275 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs759529863 19q13.42 19 54165558G> C null S C 275 275 missense 0.914 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1489605136 19q13.42 19 54165555C> T null G E 276 276 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs766243819 19q13.42 19 54165549T> G null K T 278 278 missense 0.92 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs760428000 19q13.42 19 54165547G> C null Q E 279 279 missense 0.03 benign 0.09 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1290599251 19q13.42 19 54165538G> T null L M 282 282 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs772685192 19q13.42 19 54165535C> A null A S 283 283 missense 0.499 possibly damaging 0.66 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs771619724 19q13.42 19 54165534G> A null A V 283 283 missense 0.924 probably damaging 0.41 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1386806570 19q13.42 19 54165532C> T null E K 284 284 missense 0.996 probably damaging 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs747684097 19q13.42 19 54165528G> A null S F 285 285 missense 0.906 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs770253879 19q13.42 19 54165526C> T null E K 286 286 missense 0.056 benign 0.1 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1160064515 19q13.42 19 54165516G> A null T I 289 289 missense 0.86 possibly damaging 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1422936059 19q13.42 19 54165510T> A null Y F 291 291 missense 0.422 benign 0.17 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1194482711 19q13.42 19 54165508T> C null S G 292 292 missense 0.999 probably damaging 0.1 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1199697171 19q13.42 19 54165501C> A null R L 294 294 missense 0.127 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs781569973 19q13.42 19 54165502G> A null R W 294 294 missense 0.121 benign 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116281506 19q13.42 19 54165499C> G null V L 295 295 2.0E-4 missense 0.902 possibly damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116281506 19q13.42 19 54165499C> A null V L 295 295 2.0E-4 missense 0.902 possibly damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs777791364 19q13.42 19 54165496A> G null F L 296 296 missense 0.999 probably damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1270476646 19q13.42 19 54165492G> A null S L 297 297 missense 0.796 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1344963665 19q13.42 19 54165489G> T null A D 298 298 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1265458773 19q13.42 19 54165490C> T null A T 298 298 missense 0.94 probably damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs758641515 19q13.42 19 54165485C> T null W * 299 299 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1233360678 19q13.42 19 54165486C> T null W * 299 299 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1275910583 19q13.42 19 54165487A> G null W R 299 299 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs752773628 19q13.42 19 54165484C> T null D N 300 300 missense 0.017 benign 0.12 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs777743682 19q13.42 19 54165478C> T null G S 302 302 missense 0.977 probably damaging 0.47 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs371057343 19q13.42 19 54165475G> C null L V 303 303 missense 0.391 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs753784553 19q13.42 19 54165470G> T null C * 304 304 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1320080927 19q13.42 19 54165471C> G null C S 304 304 missense 0.003 benign 0.4 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,gnomAD rs201969410 19q13.42 19 54165458G> C null H Q 308 308 2.0E-4 missense 0.725 possibly damaging 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,NCI-TCGA,TOPMed,gnomAD rs761508623 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54165453C> T null R Q 310 310 missense 0.053 benign 0.38 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1214669151 19q13.42 19 54165450A> G null L P 311 311 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1384888041 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54165448G> A null R C 312 312 missense 0.263 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs1053720898 19q13.42 19 54165445G> A null Q * 313 313 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1450371845 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54165442G> A null R C 314 314 missense 0.944 probably damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1325687887 19q13.42 19 54165441C> T null R H 314 314 missense 0.099 benign 0.05 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1450371845 19q13.42 19 54165442G> T null R S 314 314 missense 0.25 benign 0.55 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs773776809 19q13.42 19 54165436T> C null I V 316 316 missense 0.131 benign 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs566015323 19q13.42 19 54165431C> G null L F 317 317 missense 0.029 benign 0.36 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1279961496 19q13.42 19 54165432A> G null L S 317 317 missense 0.36 benign 0.24 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1350508742 19q13.42 19 54165428G> C null Y * 318 318 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs768118169 19q13.42 19 54165429T> C null Y C 318 318 missense 0.919 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs746394277 19q13.42 19 54165427C> T null E K 319 319 missense 0.703 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1234922122 19q13.42 19 54164601C> A null V L 322 322 missense 0.22 benign 0.11 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs750338594 19q13.42 19 54164582A> G null V A 328 328 missense 0.0 benign 0.56 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs762211490 19q13.42 19 54164579A> G null V A 329 329 missense 0.031 benign 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1283007067 19q13.42 19 54164576C> T null R Q 330 330 missense 0.115 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs780874417 19q13.42 19 54164574G> C null R G 331 331 missense 0.054 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs757016480 19q13.42 19 54164570T> C null Q R 332 332 missense 0.001 benign 0.41 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs776832634 19q13.42 19 54164558C> G null R P 336 336 missense 0.965 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,NCI-TCGA,TOPMed rs145377257 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54164559G> A null R W 336 336 missense 0.171 benign 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1328090515 19q13.42 19 54164556T> C null T A 337 337 missense 0.779 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1455836486 19q13.42 19 54164549C> T null G D 339 339 missense 0.847 possibly damaging 0.17 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs928853946 19q13.42 19 54164546T> G null Q P 340 340 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs201658872 19q13.42 19 54164541C> T null A T 342 342 missense 0.105 benign 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs762576697 19q13.42 19 54164536C> G null R S 343 343 missense 0.287 benign 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs565366367 19q13.42 19 54164534A> G null V A 344 344 missense 0.037 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs565366367 19q13.42 19 54164534A> C null V G 344 344 missense 0.543 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1045866016 19q13.42 19 54164529A> T null L M 346 346 missense 0.601 possibly damaging 0.17 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs967646956 19q13.42 19 54164525A> C null V G 347 347 missense 0.71 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs761116563 19q13.42 19 54164526C> G null V L 347 347 missense 0.03 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1477375361 19q13.42 19 54164522C> A null R L 348 348 missense 0.938 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1267305130 19q13.42 19 54164504A> G null L P 354 354 missense 0.935 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs762307192 19q13.42 19 54164498A> T null V D 356 356 missense 0.21 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs769048555 19q13.42 19 54164495G> T null A E 357 357 missense 0.898 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs560043659 19q13.42 19 54164496C> T null A T 357 357 2.0E-4 missense 0.071 benign 0.05 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs769048555 19q13.42 19 54164495G> A null A V 357 357 missense 0.704 possibly damaging 0.05 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs769872111 19q13.42 19 54164478A> G null F L 363 363 missense 0.073 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1357946777 19q13.42 19 54164477A> G null F S 363 363 missense 0.887 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs528415312 19q13.42 19 54164473A> C null Y * 364 364 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1175895346 19q13.42 19 54164474T> C null Y C 364 364 missense 0.162 benign 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs745808843 19q13.42 19 54164471C> G null G A 365 365 missense 0.998 probably damaging 0.4 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs781115943 19q13.42 19 54164468A> G null V A 366 366 missense 0.366 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1447315520 19q13.42 19 54164465T> C null Y C 367 367 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs751410276 19q13.42 19 54164462C> T null W * 368 368 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs777517370 19q13.42 19 54164460C> T null A T 369 369 missense 0.299 benign 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs966090584 19q13.42 19 54164453C> T null G E 371 371 missense 0.003 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs966090584 19q13.42 19 54164453C> A null G V 371 371 missense 0.169 benign 0.31 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs78664697 19q13.42 19 54164447G> A null T I 373 373 0.001597 missense 0.047 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC rs754450395 19q13.42 19 54164439G> T null L M 376 376 missense 0.985 probably damaging 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1409745143 19q13.42 19 54163884T> C null M V 379 379 missense 0.0 benign 0.31 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs753438306 19q13.42 19 54163875C> A null V F 382 382 missense 0.162 benign 0.09 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1387661803 19q13.42 19 54163865A> G null L S 385 385 missense 0.039 benign 0.76 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs764569192 19q13.42 19 54163859A> T null L Q 387 387 missense 0.967 probably damaging 0.32 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs752067791 19q13.42 19 54163860G> C null L V 387 387 missense 0.045 benign 0.28 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs149112356 19q13.42 19 54163851G> T null L I 390 390 missense 0.982 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1481079375 19q13.42 19 54163850A> G null L P 390 390 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1191146787 19q13.42 19 54163848C> G null G R 391 391 missense 0.522 possibly damaging 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs34483966 19q13.42 19 54163833G> C null P A 396 396 missense 0.952 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1251398552 19q13.42 19 54163832G> A null P L 396 396 missense 0.437 benign 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs34483966 19q13.42 19 54163833G> A null P S 396 396 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs759651634 19q13.42 19 54163818C> A null A S 401 401 missense 0.01 benign 0.55 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,NCI-TCGA,gnomAD rs759651634 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54163818C> T null A T 401 401 missense 0.146 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1234287724 19q13.42 19 54163811A> G null V A 403 403 missense 0.024 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs145048832 19q13.42 19 54163812C> A null V F 403 403 missense 0.059 benign 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1337489492 19q13.42 19 54163808T> C null N S 404 404 missense 0.879 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1228369240 19q13.42 19 54163802A> G null V A 406 406 missense 0.615 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs926359257 19q13.42 19 54163803C> G null V L 406 406 missense 0.045 benign 0.22 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs926359257 19q13.42 19 54163803C> T null V M 406 406 missense 0.882 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs866030128 19q13.42 19 54163796G> A null P L 408 408 missense 0.979 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs770875427 19q13.42 19 54163797G> A null P S 408 408 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs773074209 19q13.42 19 54163793G> T null P H 409 409 missense 0.093 benign 0.26 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs771857710 19q13.42 19 54163788A> G null F L 411 411 missense 0.386 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs371997703 19q13.42 19 54163785T> C null K E 412 412 missense 0.197 benign 0.24 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs371997703 19q13.42 19 54163785T> G null K Q 412 412 missense 0.049 benign 0.2 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs778552804 19q13.42 19 54163782G> C null L V 413 413 missense 0.16 benign 0.38 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1481417439 19q13.42 19 54163779T> G null I L 414 414 missense 0.021 benign 0.5 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs139710462 19q13.42 19 54163776C> G null A P 415 415 missense 0.937 probably damaging 0.05 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs139710462 19q13.42 19 54163776C> T null A T 415 415 missense 0.076 benign 0.23 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs919168422 19q13.42 19 54163769A> G null L P 417 417 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1156659565 19q13.42 19 54163766T> G null E A 418 418 missense 0.89 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1469601368 19q13.42 19 54163763C> T null G D 419 419 missense 0.976 probably damaging 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs1033510426 19q13.42 19 54163764C> T null G S 419 419 missense 0.967 probably damaging 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs779642228 19q13.42 19 54163759G> C null Y * 420 420 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs755631641 19q13.42 19 54163757G> A null T I 421 421 missense 0.844 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs778492916 19q13.42 19 54163754C> T null R Q 422 422 missense 0.147 benign 0.29 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs116032274 19q13.42 19 54163755G> A null R W 422 422 3.99E-4 missense 0.961 probably damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1351108370 19q13.42 19 54163749G> A null R C 424 424 missense 0.91 probably damaging 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115937567 19q13.42 19 54163740C> T null V I 427 427 0.007788 missense 0.012 benign 0.24 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1208451050 19q13.42 19 54163727A> T null L H 431 431 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs865809919 19q13.42 19 54163724C> T null R K 432 432 missense 0.971 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs762922892 19q13.42 19 54163159C> A null R S 432 432 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1190320852 19q13.42 19 54163149G> T null L I 436 436 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs775463009 19q13.42 19 54163143G> A null L F 438 438 missense 0.519 possibly damaging 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1480457979 19q13.42 19 54163142A> C null L R 438 438 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs765080180 19q13.42 19 54163140C> T null A T 439 439 missense 0.027 benign 0.16 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1274604137 19q13.42 19 54163131C> T null V M 442 442 missense 0.248 benign 0.26 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs776364024 19q13.42 19 54163121A> G null L P 445 445 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1333981068 19q13.42 19 54163118A> G null F S 446 446 missense 0.049 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs772764011 19q13.42 19 54163115G> A null S F 447 447 missense 0.978 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs769084857 19q13.42 19 54163113G> C null L V 448 448 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1279073271 19q13.42 19 54163104G> C null Q E 451 451 missense 0.024 benign 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs1568726695 19q13.42 19 54163103T> C null Q R 451 451 missense 0.059 benign 0.13 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1264877465 19q13.42 19 54163101T> C null I V 452 452 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC rs749764878 19q13.42 19 54163091C> T null G E 455 455 missense 0.114 benign 0.28 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1442963531 19q13.42 19 54163092C> G null G R 455 455 missense 0.114 benign 0.16 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1442963531 19q13.42 19 54163092C> T null G R 455 455 missense 0.114 benign 0.16 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1442963531 19q13.42 19 54163092C> A null G W 455 455 missense 0.164 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116092322 19q13.42 19 54163088C> T null G D 456 456 2.0E-4 missense 0.638 possibly damaging 0.15 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs1568726616 19q13.42 19 54163089C> T null G S 456 456 missense 0.981 probably damaging 0.09 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs746099186 19q13.42 19 54163082G> C null S C 458 458 missense 0.556 possibly damaging 0.33 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,gnomAD rs374589963 19q13.42 19 54163078C> A null E D 459 459 missense 0.059 benign 0.26 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs757491045 19q13.42 19 54163077C> G null A P 460 460 missense 0.162 benign 0.11 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1002374668 19q13.42 19 54163073T> C null E G 461 461 missense 0.007 benign 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1471914414 19q13.42 19 54163074C> T null E K 461 461 missense 0.007 benign 0.17 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs751642758 19q13.42 19 54163071C> A null D Y 462 462 missense 0.694 possibly damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1470138466 19q13.42 19 54163065T> C null K E 464 464 missense 0.041 benign 0.33 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs758296563 19q13.42 19 54163061G> A null T I 465 465 missense 0.047 benign 0.44 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs938018797 19q13.42 19 54163058C> A null C F 466 466 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1431997655 19q13.42 19 54163057A> C null C W 466 466 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs752629783 19q13.42 19 54163055C> G null G A 467 467 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1273626541 19q13.42 19 54163051G> T null Y * 468 468 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1046190343 19q13.42 19 54163034G> A null P L 474 474 missense 0.592 possibly damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs913821008 19q13.42 19 54162770A> C null C G 475 475 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1486817504 19q13.42 19 54162766C> T null W * 476 476 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs140789422 19q13.42 19 54162764C> T null E K 477 477 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs112014947 19q13.42 19 54162758C> T null V I 479 479 missense 0.037 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs112014947 19q13.42 19 54162758C> G null V L 479 479 missense 0.0 benign 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs760008036 19q13.42 19 54162748T> C null Q R 482 482 missense 0.444 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs776886781 19q13.42 19 54162740A> G null Y H 485 485 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1296781261 19q13.42 19 54162737T> C null K E 486 486 missense 0.933 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs150616659 19q13.42 19 54162731G> T null L M 488 488 missense 0.603 possibly damaging 0.93 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,gnomAD rs373006578 19q13.42 19 54162730A> G null L P 488 488 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs1568725465 19q13.42 19 54162728G> A null L F 489 489 missense 0.927 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1312737484 19q13.42 19 54162727A> G null L P 489 489 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1036483376 19q13.42 19 54162723A> T null F L 490 490 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs777983358 19q13.42 19 54162724A> G null F S 490 490 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs772177455 19q13.42 19 54162722C> G null D H 491 491 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1372090666 19q13.42 19 54162718A> C null L R 492 492 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs779113855 19q13.42 19 54162715A> G null L P 493 493 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs779729632 19q13.42 19 54162705C> G null L F 496 496 missense 0.945 probably damaging 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1252053673 19q13.42 19 54162697G> C null A G 499 499 missense 0.109 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs750183786 19q13.42 19 54162694A> G null L P 500 500 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs751113769 19q13.42 19 54162684C> G null Q H 503 503 missense 0.952 probably damaging 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC rs761437843 19q13.42 19 54162686G> T null Q K 503 503 missense 0.106 benign 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs763552376 19q13.42 19 54162680G> A null P S 505 505 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs954919454 19q13.42 19 54162676C> G null R T 506 506 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs771757357 19q13.42 19 54162674T> C null K E 507 507 missense 0.89 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1470161702 19q13.42 19 54162285C> A null K N 507 507 missense 0.959 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1472351101 19q13.42 19 54162673T> C null K R 507 507 missense 0.207 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1260068785 19q13.42 19 54162281G> A null L F 509 509 missense 0.046 benign 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1292700411 19q13.42 19 54162280A> G null L P 509 509 missense 0.947 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs773664919 19q13.42 19 54162278A> G null C R 510 510 missense 0.807 possibly damaging 0.05 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs373591201 19q13.42 19 54162275C> T null G S 511 511 missense 0.249 benign 0.78 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1271332754 19q13.42 19 54162272G> A null L F 512 512 missense 0.059 benign 0.67 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,TOPMed,gnomAD rs538545933 19q13.42 19 54162268C> A null C F 513 513 2.0E-4 missense 0.422 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs370886990 19q13.42 19 54162267A> C null C W 513 513 missense 0.991 probably damaging 0.05 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1441180050 19q13.42 19 54162265G> T null P H 514 514 missense 0.093 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1302155010 19q13.42 19 54162266G> A null P S 514 514 missense 0.068 benign 0.83 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1381623707 19q13.42 19 54162262C> G null G A 515 515 missense 0.953 probably damaging 0.45 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1315940085 19q13.42 19 54162263C> T null G R 515 515 missense 0.976 probably damaging 0.27 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1381623707 19q13.42 19 54162262C> A null G V 515 515 missense 0.988 probably damaging 0.43 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1300127300 19q13.42 19 54162260C> T null A T 516 516 missense 0.114 benign 0.17 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs775413179 19q13.42 19 54162257G> T null L M 517 517 missense 0.988 probably damaging 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,gnomAD rs370724130 19q13.42 19 54162256A> G null L P 517 517 missense 0.994 probably damaging 0.16 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1448103413 19q13.42 19 54162242C> T null G R 522 522 missense 0.422 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1448103413 19q13.42 19 54162242C> A null G W 522 522 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1265907035 19q13.42 19 54162239T> G null T P 523 523 missense 0.937 probably damaging 0.25 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed rs780983859 19q13.42 19 54162233C> T null E K 525 525 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1278978990 19q13.42 19 54162227G> A null Q * 527 527 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,NCI-TCGA,TOPMed,gnomAD rs746666219 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54162215C> T null E K 531 531 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs777466101 19q13.42 19 54162212C> T null V M 532 532 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs757971688 19q13.42 19 54162206C> G null G R 534 534 missense 0.966 probably damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs764621289 19q13.42 19 54162198G> C null I M 536 536 missense 0.248 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs752299652 19q13.42 19 54162199A> G null I T 536 536 missense 0.152 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1394541147 19q13.42 19 54162195G> T null Y * 537 537 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP rs138980997 19q13.42 19 54162194C> T null A T 538 538 missense 0.863 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs750838464 19q13.42 19 54162185C> G null V L 541 541 missense 0.311 benign 0.17 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,TOPMed,gnomAD rs377550147 19q13.42 19 54162181A> G null V A 542 542 missense 0.779 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,TOPMed rs373393088 19q13.42 19 54162182C> T null V I 542 542 missense 0.779 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1475155653 19q13.42 19 54162177C> A null W C 543 543 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1186503001 19q13.42 19 54162178C> G null W S 543 543 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1256246674 19q13.42 19 54162173C> T null G R 545 545 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs767998477 19q13.42 19 54162169C> A null S I 546 546 missense 0.891 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs767998477 19q13.42 19 54162169C> G null S T 546 546 missense 0.233 benign 0.94 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1443797576 19q13.42 19 54162167A> C null F V 547 547 missense 0.966 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs199687894 19q13.42 19 54162163A> G null F S 548 548 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1270359996 19q13.42 19 54162159G> T null C * 549 549 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1194868252 19q13.42 19 54162157G> A null P L 550 550 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1279832119 19q13.42 19 54162148G> A null P L 553 553 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1231420912 19q13.42 19 54162145A> G null L P 554 554 missense 0.985 probably damaging 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs774845118 19q13.42 19 54162143G> A null L F 555 555 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs764462813 19q13.42 19 54162136G> A null T M 557 557 missense 0.979 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs764462813 19q13.42 19 54162136G> C null T R 557 557 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs774117731 19q13.42 19 54162134C> A null V F 558 558 missense 0.043 benign 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC rs775674628 19q13.42 19 54162111G> T null Y * 565 565 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed rs751573380 19q13.42 19 54162112du p null Y * 565 565 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1415804610 19q13.42 19 54162103T> G null K T 568 568 missense 0.251 benign 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1223743938 19q13.42 19 54161260G> A null L F 569 569 missense 0.007 benign 0.36 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs752800245 19q13.42 19 54161256G> A null T I 570 570 missense 0.542 possibly damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1354348699 19q13.42 19 54161235G> A null P L 577 577 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs866490814 19q13.42 19 54161233C> A null A S 578 578 missense 0.523 possibly damaging 0.32 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs866490814 19q13.42 19 54161233C> T null A T 578 578 missense 0.923 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1295620148 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54161227G> A null R C 580 580 missense 0.919 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs776676888 19q13.42 19 54161223G> A null T I 581 581 missense 0.655 possibly damaging 0.05 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs867459684 19q13.42 19 54161217C> A null R L 583 583 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs867459684 19q13.42 19 54161217C> T null R Q 583 583 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs760572157 19q13.42 19 54161214G> T null A D 584 584 missense 0.94 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs773021061 19q13.42 19 54161209C> G null A P 586 586 missense 0.327 benign 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs773021061 19q13.42 19 54161209C> T null A T 586 586 missense 0.0 benign 0.59 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1171429760 19q13.42 19 54161208G> A null A V 586 586 missense 0.003 benign 0.03 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs771715265 19q13.42 19 54161205G> A null A V 587 587 missense 0.075 benign 0.2 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1484867676 19q13.42 19 54161193A> G null F S 591 591 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1291493932 19q13.42 19 54161190G> A null P L 592 592 missense 0.207 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs768342333 19q13.42 19 54161184A> G null V A 594 594 missense 0.508 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs926965238 19q13.42 19 54161185C> T null V I 594 594 missense 0.16 benign 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs757872994 19q13.42 19 54161182G> A null L F 595 595 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs757872994 19q13.42 19 54161182G> T null L I 595 595 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs752067774 19q13.42 19 54161175A> G null L P 597 597 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1305606276 19q13.42 19 54161173C> T null G S 598 598 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1303890211 19q13.42 19 54161169A> T null L Q 599 599 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs867026557 19q13.42 19 54161167C> T null A T 600 600 missense 0.162 benign 0.15 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs778216509 19q13.42 19 54161166G> A null A V 600 600 missense 0.162 benign 0.35 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1402385270 19q13.42 19 54161164T> G null I L 601 601 missense 0.018 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs115917430 19q13.42 19 54161163A> C null I S 601 601 2.0E-4 missense 0.115 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs753097183 19q13.42 19 54161161A> T null S T 602 602 missense 0.933 probably damaging 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs765431768 19q13.42 19 54161156G> T null S R 603 603 missense 0.368 benign 0.2 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs755168455 19q13.42 19 54161154A> G null V A 604 604 missense 0.238 benign 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1359334099 19q13.42 19 54161155C> A null V F 604 604 missense 0.957 probably damaging 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1194359881 19q13.42 19 54161151G> A null P L 605 605 missense 0.924 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1418506911 19q13.42 19 54161152G> T null P T 605 605 missense 0.426 benign 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs750973113 19q13.42 19 54161146G> T null L I 607 607 missense 0.69 possibly damaging 0.37 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs918176044 19q13.42 19 54161138G> T null S R 609 609 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1490221778 19q13.42 19 54161028G> A null P L 614 614 missense 0.527 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs756253894 19q13.42 19 54161017G> T null L M 618 618 missense 0.19 benign 0.08 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1331803383 19q13.42 19 54161016A> T null L Q 618 618 missense 0.845 possibly damaging 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs761780580 19q13.42 19 54161008G> A null P S 621 621 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs774048409 19q13.42 19 54161003G> T null F L 622 622 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs749944479 19q13.42 19 54161001C> G null R P 623 623 missense 0.978 probably damaging 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs749944479 19q13.42 19 54161001C> T null R Q 623 623 missense 0.123 benign 0.22 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1458327732 19q13.42 19 54161002G> A null R W 623 623 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs763904005 19q13.42 19 54160992G> A null S L 626 626 missense 0.007 benign 0.21 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs762711169 19q13.42 19 54160990A> G null S P 627 627 missense 0.937 probably damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1180909113 19q13.42 19 54160987T> C null I V 628 628 missense 0.854 possibly damaging 0.1 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs978422857 19q13.42 19 54160983C> T null W * 629 629 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1467471560 19q13.42 19 54160981C> T null A T 630 630 missense 0.099 benign 0.4 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs769561878 19q13.42 19 54160976C> G null Q H 631 631 missense 0.019 benign 0.12 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,gnomAD rs548236800 19q13.42 19 54160975T> G null I L 632 632 2.0E-4 missense 0.814 possibly damaging 0.24 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs373849503 19q13.42 19 54160971G> A null P L 633 633 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1266719860 19q13.42 19 54160969C> T null E K 634 634 missense 0.02 benign 0.63 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs772493147 19q13.42 19 54160965G> A null S F 635 635 missense 0.97 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,NCI-TCGA,gnomAD rs748646342 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54160963T> C null I V 636 636 missense 0.149 benign 0.56 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1368579061 19q13.42 19 54160956C> A null S I 638 638 missense 0.481 possibly damaging 0.16 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1241851867 19q13.42 19 54160957T> G null S R 638 638 missense 0.02 benign 0.47 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1322615857 19q13.42 19 54160955G> T null S R 638 638 missense 0.02 benign 0.47 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1392734457 19q13.42 19 54160947T> C null E G 641 641 missense 0.131 benign 0.24 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs755276957 19q13.42 19 54160941G> A null T I 643 643 missense 0.005 benign 0.41 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1419105308 19q13.42 19 54160929A> G null L P 647 647 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs749648885 19q13.42 19 54160917C> T null G E 651 651 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1381002260 19q13.42 19 54160918C> T null G R 651 651 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs896974611 19q13.42 19 54160912G> C null Q E 653 653 missense 0.106 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs780313415 19q13.42 19 54160909C> T null A T 654 654 missense 0.382 benign 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1377451707 19q13.42 19 54160904A> C null F L 655 655 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1303680818 19q13.42 19 54160897G> A null P S 658 658 missense 1.0 probably damaging 0.15 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs1568718639 19q13.42 19 54160894G> A null L F 659 659 missense 1.0 probably damaging 0.89 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1318533802 19q13.42 19 54160543A> G null I T 665 665 missense 0.511 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs769192174 19q13.42 19 54160537A> G null M T 667 667 missense 0.875 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs775857830 19q13.42 19 54160532A> G null Y H 669 669 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs775857830 19q13.42 19 54160532A> T null Y N 669 669 missense 0.956 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs746086062 19q13.42 19 54160523C> A null A S 672 672 missense 0.17 benign 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs746086062 19q13.42 19 54160523C> T null A T 672 672 missense 0.045 benign 0.07 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs890700360 19q13.42 19 54160522G> A null A V 672 672 missense 0.162 benign 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs752951815 19q13.42 19 54160519A> G null L P 673 673 missense 0.921 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1402889847 19q13.42 19 54160506G> T null Y * 677 677 stop gained 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed,gnomAD rs1405253286 19q13.42 19 54160504C> T null G E 678 678 missense 0.991 probably damaging 0.22 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,TOPMed,gnomAD rs367773540 19q13.42 19 54160505C> T null G R 678 678 missense 0.994 probably damaging 0.46 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs747158636 19q13.42 19 54160499G> A null L F 680 680 missense 0.771 possibly damaging 0.01 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs777966264 19q13.42 19 54160495A> G null I T 681 681 missense 0.786 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs758439329 19q13.42 19 54160490C> G null E Q 683 683 missense 0.043 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1353348304 19q13.42 19 54160481G> C null R G 686 686 missense 0.036 benign 0.21 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs1568717313 19q13.42 19 54160476C> G null Q H 687 687 missense 0.162 benign 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs748048609 19q13.42 19 54160477T> A null Q L 687 687 missense 0.839 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs36657 19q13.42 19 54160472C> G null E Q 689 689 0.4878 missense 0.068 benign 0.5 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs920696631 19q13.42 19 54160371C> T null A T 692 692 missense 0.046 benign 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein Ensembl rs889937603 19q13.42 19 54160362T> C null K E 695 695 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1341307355 19q13.42 19 54160359C> T null V I 696 696 missense 0.985 probably damaging 0.34 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs781932336 19q13.42 19 54160354G> C null F L 697 697 missense 0.403 benign 0.04 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,TOPMed,gnomAD rs782581822 19q13.42 19 54160346C> A null R L 700 700 missense 0.165 benign 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,NCI-TCGA,TOPMed,gnomAD rs782581822 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 19q13.42 19 54160346C> T null R Q 700 700 missense 0.003 benign 1.0 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein gnomAD rs1296989080 19q13.42 19 54160347G> A null R W 700 700 missense 0.761 possibly damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein 1000Genomes,ExAC,gnomAD rs199722573 19q13.42 19 54160343C> T null R H 701 701 2.0E-4 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein TOPMed rs1385231151 19q13.42 19 54160337A> G null V A 703 703 missense 0.946 probably damaging 0.06 tolerated 0 A0A087WT65 TMC4 Transmembrane channel-like protein ESP,ExAC,gnomAD rs140744667 19q13.42 19 54160338C> T null V M 703 703 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT65 TMC4 Transmembrane channel-like protein ExAC,gnomAD rs782573312 19q13.42 19 54160311G> C null L V 712 712 missense 0.046 benign 0.05 tolerated - low confidence 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1411617246 11p15.4 11 3373588C> A null A S 2 2 missense 0.01 benign 0.24 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs775796362 11p15.4 11 3373584C> T null G D 3 3 missense 0.262 benign 0.21 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1302161690 11p15.4 11 3373581G> A null A V 4 4 missense 0.056 benign 0.75 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs763951962 11p15.4 11 3371693G> A null T M 9 9 missense 0.993 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564925460 11p15.4 11 3371687C> G null R T 11 11 missense 0.914 probably damaging 0.07 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1448180549 11p15.4 11 3371682C> T null V M 13 13 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs867222774 11p15.4 11 3371679C> A null A S 14 14 missense 0.954 probably damaging 0.11 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1284600558 11p15.4 11 3371676T> C null I V 15 15 missense 0.535 possibly damaging 0.09 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1037608771 11p15.4 11 3371661C> T null E K 20 20 missense 0.937 probably damaging 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1365263534 11p15.4 11 3371640G> A null L F 27 27 missense 0.251 benign 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1365263534 11p15.4 11 3371640G> T null L I 27 27 missense 0.045 benign 0.09 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1271753670 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22895193,cosmic_study:452 11p15.4 11 3371637C> T null A T 28 28 missense 0.973 probably damaging 0.03 deleterious 1 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564925323 11p15.4 11 3371634G> T null Q K 29 29 missense 0.615 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs199712721 11p15.4 11 3371623C> A null L F 32 32 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs760948592 11p15.4 11 3371625A> T null L M 32 32 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1452883404 11p15.4 11 3371613C> T null V M 36 36 missense 0.983 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1174944812 11p15.4 11 3371587C> G null L F 44 44 missense 0.981 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201263817 11p15.4 11 3371585A> C null F C 45 45 5.99E-4 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs776133516 11p15.4 11 3371580C> T null V I 47 47 missense 0.001 benign 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs776297846 11p15.4 11 3371062C> G null V L 51 51 missense 0.796 possibly damaging 0.14 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs770521516 11p15.4 11 3371058C> A null C F 52 52 missense 0.039 benign 0.27 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1272340023 11p15.4 11 3371059A> T null C S 52 52 missense 0.0 benign 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs746786235 11p15.4 11 3371053G> A null P S 54 54 missense 0.225 benign 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1393861484 11p15.4 11 3371047G> C null L V 56 56 missense 0.27 benign 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs777476855 11p15.4 11 3371043A> G null I T 57 57 missense 0.253 benign 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1298411009 11p15.4 11 3371037C> T null C Y 59 59 missense 0.515 possibly damaging 0.23 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,NCI-TCGA,TOPMed,gnomAD rs778995294 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p15.4 11 3371025C> T null R Q 63 63 missense 0.06 benign 0.24 tolerated 1 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1427093377 11p15.4 11 3371019T> C null E G 65 65 missense 0.961 probably damaging 0.1 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs776858832 11p15.4 11 3371010T> C null N S 68 68 missense 0.937 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs755047059 11p15.4 11 3371004T> C null K R 70 70 missense 0.338 benign 0.05 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564924305 11p15.4 11 3371002T> C null R G 71 71 missense 0.253 benign 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1013825038 11p15.4 11 3370993C> A null A S 74 74 missense 0.225 benign 0.19 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs750790659 11p15.4 11 3370984C> T null G R 77 77 missense 0.9 possibly damaging 0.3 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs368444165 11p15.4 11 3370981G> T null H N 78 78 missense 0.026 benign 0.39 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1219275174 11p15.4 11 3370980T> G null H P 78 78 missense 0.073 benign 0.43 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs368444165 11p15.4 11 3370981G> A null H Y 78 78 missense 0.0 benign 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1260111388 11p15.4 11 3370978G> A null P S 79 79 missense 0.213 benign 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1235565219 11p15.4 11 3361889T> G null E A 80 80 missense 0.0 benign 0.77 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs779246198 11p15.4 11 3361888C> A null E D 80 80 missense 0.099 benign 0.62 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs779246198 11p15.4 11 3361888C> G null E D 80 80 missense 0.099 benign 0.62 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1235565219 11p15.4 11 3361889T> C null E G 80 80 missense 0.053 benign 0.39 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1043194521 11p15.4 11 3361884C> G null G R 82 82 missense 0.998 probably damaging 0.36 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs755561439 11p15.4 11 3361878G> A null H Y 84 84 missense 0.091 benign 0.28 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1264286436 11p15.4 11 3361874T> C null H R 85 85 missense 0.036 benign 0.36 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1042325680 11p15.4 11 3361875G> A null H Y 85 85 missense 0.091 benign 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs542961230 11p15.4 11 3361871G> A null A V 86 86 missense 0.053 benign 0.36 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1330763594 11p15.4 11 3361866G> A null Q * 88 88 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1330763594 11p15.4 11 3361866G> C null Q E 88 88 missense 0.009 benign 0.43 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs780920896 11p15.4 11 3361863C> A null A S 89 89 missense 0.033 benign 0.76 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1229363995 11p15.4 11 3361854C> A null E * 92 92 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs915251192 11p15.4 11 3361850A> C null L R 93 93 missense 0.447 possibly damaging 0.54 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1388973664 11p15.4 11 3361844C> T null G D 95 95 missense 0.189 benign 0.22 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs771940610 11p15.4 11 3361841G> C null S * 96 96 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,NCI-TCGA,TOPMed,gnomAD rs752579667 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11p15.4 11 3361836C> T null D N 98 98 missense 0.057 benign 0.71 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs752579667 11p15.4 11 3361836C> A null D Y 98 98 missense 0.497 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1368657342 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:375 11p15.4 11 3361823G> A null S L 102 102 missense 0.886 possibly damaging 0.29 tolerated 1 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs927199921 11p15.4 11 3361820G> T null A D 103 103 missense 0.246 benign 0.62 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs927199921 11p15.4 11 3361820G> C null A G 103 103 missense 0.085 benign 0.43 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1370348755 11p15.4 11 3361817G> C null S C 104 104 missense 0.976 probably damaging 0.19 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs765062349 11p15.4 11 3361811C> A null S I 106 106 missense 0.922 probably damaging 0.11 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374927318 11p15.4 11 3361808G> A null A V 107 107 2.0E-4 missense 0.943 probably damaging 0.56 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs920723674 11p15.4 11 3361806C> T null G R 108 108 missense 0.08 benign 0.56 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs745440012 11p15.4 11 3361799G> A null T I 110 110 missense 0.948 probably damaging 0.2 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs745440012 11p15.4 11 3361799G> T null T K 110 110 missense 0.922 probably damaging 0.89 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs562812545 11p15.4 11 3361789G> C null N K 113 113 missense 0.888 possibly damaging 0.55 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1191184812 11p15.4 11 3361790T> C null N S 113 113 missense 0.828 possibly damaging 0.53 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs772367656 11p15.4 11 3361787T> C null H R 114 114 missense 0.774 possibly damaging 0.56 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1248145176 11p15.4 11 3361788G> A null H Y 114 114 missense 0.677 possibly damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs7125523 11p15.4 11 3361785G> A null R C 115 115 0.02197 missense 0.0 benign 0.08 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,NCI-TCGA,TOPMed,gnomAD rs377531343 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 3361784C> T null R H 115 115 missense 0.103 benign 0.13 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs756985728 11p15.4 11 3361781G> A null A V 116 116 missense 0.094 benign 0.29 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes rs533109591 11p15.4 11 3361776G> T null P T 118 118 2.0E-4 missense 0.954 probably damaging 0.43 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1303375702 11p15.4 11 3361772C> T null G D 119 119 missense 0.018 benign 0.26 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs779394647 11p15.4 11 3361769A> T null L H 120 120 missense 0.987 probably damaging 0.45 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs867082212 11p15.4 11 3361766T> C null N S 121 121 missense 0.005 benign 0.41 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1434570124 11p15.4 11 3361760G> A null S F 123 123 missense 0.917 probably damaging 0.11 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs769043654 11p15.4 11 3361761A> T null S T 123 123 missense 0.68 possibly damaging 0.64 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1383076623 11p15.4 11 3361758C> A null V L 124 124 missense 0.558 possibly damaging 0.88 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1215193208 11p15.4 11 3361755C> T null D N 125 125 missense 0.932 probably damaging 0.49 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1304358587 11p15.4 11 3361751T> C null K R 126 126 missense 0.828 possibly damaging 0.55 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs900571870 11p15.4 11 3360786G> C null L V 130 130 missense 0.048 benign 0.75 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs947579798 11p15.4 11 3360779G> A null S L 132 132 missense 0.077 benign 0.51 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs374162006 11p15.4 11 3360780A> G null S P 132 132 3.99E-4 missense 0.331 benign 0.31 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1450982981 11p15.4 11 3360776G> A null P L 133 133 missense 0.025 benign 0.56 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1166250449 11p15.4 11 3360773C> A null G V 134 134 missense 0.007 benign 0.23 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1167402284 11p15.4 11 3360770A> T null V E 135 135 missense 0.192 benign 0.2 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1371162976 11p15.4 11 3360771C> T null V M 135 135 missense 0.452 possibly damaging 0.1 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs748467521 11p15.4 11 3360768G> T null L M 136 136 missense 0.137 benign 0.22 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs748467521 11p15.4 11 3360768G> C null L V 136 136 missense 0.007 benign 0.52 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1257180213 11p15.4 11 3360764T> C null Q R 137 137 missense 0.06 benign 0.18 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1484318346 11p15.4 11 3360759C> T null V M 139 139 missense 0.01 benign 0.15 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,TOPMed,gnomAD rs146243724 11p15.4 11 3360756T> G null K Q 140 140 0.003794 missense 0.197 benign 0.06 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs200086777 11p15.4 11 3360751C> T null W * 141 141 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1276038547 11p15.4 11 3360744C> T null E K 144 144 missense 0.149 benign 0.51 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs750110690 11p15.4 11 3360734C> G null C S 147 147 missense 0.0 benign 0.23 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs981065641 11p15.4 11 3360731A> G null I T 148 148 missense 0.0 benign 0.5 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369496669 11p15.4 11 3360726A> G null S P 150 150 7.99E-4 missense 0.331 benign 0.27 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1294408675 11p15.4 11 3360565G> A null A V 152 152 missense 0.974 probably damaging 0.68 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs371842951 11p15.4 11 3360561C> A null M I 153 153 missense 0.001 benign 0.41 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1271562399 11p15.4 11 3360563T> A null M L 153 153 missense 0.0 benign 0.28 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1350838134 11p15.4 11 3360559G> A null S F 154 154 missense 0.974 probably damaging 0.49 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1439857880 11p15.4 11 3360556G> A null S F 155 155 missense 0.974 probably damaging 0.08 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1323636568 11p15.4 11 3360553T> C null H R 156 156 missense 0.119 benign 0.07 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs767571019 11p15.4 11 3360554G> A null H Y 156 156 missense 0.119 benign 0.28 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs778611082 11p15.4 11 3360545G> A null Q * 159 159 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs761815959 11p15.4 11 3360544T> C null Q R 159 159 missense 0.0 benign 0.22 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs900626180 11p15.4 11 3360539G> A null L F 161 161 missense 0.284 benign 0.47 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs900626180 11p15.4 11 3360539G> T null L I 161 161 missense 0.025 benign 0.15 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs774584485 11p15.4 11 3360530C> G null E Q 164 164 missense 0.964 probably damaging 0.12 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs763380729 11p15.4 11 3360523C> T null G D 166 166 missense 0.998 probably damaging 0.26 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs764255175 11p15.4 11 3360524C> T null G S 166 166 missense 0.996 probably damaging 0.35 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs776047777 11p15.4 11 3360519T> C null I M 167 167 missense 0.947 probably damaging 0.18 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1469049137 11p15.4 11 3360520A> G null I T 167 167 missense 0.877 possibly damaging 0.13 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1042404408 11p15.4 11 3360518G> T null Q K 168 168 missense 0.637 possibly damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1170062281 11p15.4 11 3360517T> C null Q R 168 168 missense 0.747 possibly damaging 0.11 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ExAC,gnomAD rs541850008 11p15.4 11 3360511G> A null A V 170 170 2.0E-4 missense 0.974 probably damaging 0.08 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs771552346 11p15.4 11 3360503T> C null K E 173 173 missense 0.943 probably damaging 0.15 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1330098769 11p15.4 11 3360502T> C null K R 173 173 missense 0.943 probably damaging 0.05 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs747629430 11p15.4 11 3360496A> G null I T 175 175 missense 0.877 possibly damaging 0.24 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs754662617 11p15.4 11 3360493A> T null L Q 176 176 missense 0.992 probably damaging 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs749057617 11p15.4 11 3360490C> T null R K 177 177 missense 0.739 possibly damaging 0.41 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs866779776 11p15.4 11 3360488C> A null G * 178 178 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs866779776 11p15.4 11 3360488C> T null G R 178 178 missense 0.999 probably damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs779893726 11p15.4 11 3360478T> C null N S 181 181 missense 0.943 probably damaging 0.14 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs757319659 11p15.4 11 3360469A> G null L P 184 184 missense 0.992 probably damaging 0.21 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564913318 11p15.4 11 3360464T> A null N Y 186 186 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1318059305 11p15.4 11 3360449T> C null K E 191 191 missense 0.915 probably damaging 0.17 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1191275838 11p15.4 11 3360448T> C null K R 191 191 missense 0.915 probably damaging 0.05 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1191275838 11p15.4 11 3360448T> G null K T 191 191 missense 0.946 probably damaging 0.05 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs751632323 11p15.4 11 3360439T> C null E G 194 194 missense 0.099 benign 0.21 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1427831762 11p15.4 11 3360436C> T null S N 195 195 missense 0.046 benign 0.19 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs763327514 11p15.4 11 3360424C> T null C Y 199 199 missense 0.0 benign 0.2 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1287267812 11p15.4 11 3360422T> C null K E 200 200 missense 0.915 probably damaging 0.09 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs777980312 11p15.4 11 3360419A> T null L M 201 201 missense 0.319 benign 0.21 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs936435844 11p15.4 11 3360416G> A null Q * 202 202 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs893266969 11p15.4 11 3360413T> C null K E 203 203 missense 0.915 probably damaging 0.22 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs748909798 11p15.4 11 3360410C> G null D H 204 204 missense 0.994 probably damaging 0.2 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,NCI-TCGA,gnomAD rs748909798 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 3360410C> A null D Y 204 204 missense 0.994 probably damaging 0.12 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs201666717 11p15.4 11 3360404T> G null N H 206 206 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1241799667 11p15.4 11 3360398G> A null L F 208 208 missense 0.974 probably damaging 0.35 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs771369730 11p15.4 11 3360397A> C null L R 208 208 missense 0.988 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1241799667 11p15.4 11 3360398G> C null L V 208 208 missense 0.937 probably damaging 0.11 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs747660835 11p15.4 11 3360393G> T null N K 209 209 missense 0.946 probably damaging 0.07 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1443892863 11p15.4 11 3360395T> A null N Y 209 209 missense 0.984 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,TOPMed rs188209863 11p15.4 11 3360392G> A null Q * 210 210 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,TOPMed rs188209863 11p15.4 11 3360392G> T null Q K 210 210 missense 0.535 possibly damaging 0.08 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs372686201 11p15.4 11 3360389A> G null C R 211 211 missense 0.942 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs779697831 11p15.4 11 3360377T> C null T A 215 215 missense 0.878 possibly damaging 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,gnomAD rs368569364 11p15.4 11 3360366T> G null K N 218 218 missense 0.946 probably damaging 0.05 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes rs541168448 11p15.4 11 3360364A> C null I S 219 219 2.0E-4 missense 0.884 possibly damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1361211606 11p15.4 11 3360365T> C null I V 219 219 missense 0.453 possibly damaging 0.16 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ExAC,TOPMed,gnomAD rs576848244 11p15.4 11 3360346T> C null Y C 225 225 2.0E-4 missense 0.988 probably damaging 0.31 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs757191366 11p15.4 11 3360343A> C null V G 226 226 missense 0.92 probably damaging 0.46 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs751648101 11p15.4 11 3360335A> G null F L 229 229 missense 0.825 possibly damaging 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs778063543 11p15.4 11 3360332C> A null D Y 230 230 missense 0.357 benign 0.4 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1419033587 11p15.4 11 3360317A> T null L I 235 235 missense 0.017 benign 0.24 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1419033587 11p15.4 11 3360317A> C null L V 235 235 missense 0.001 benign 0.34 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC rs758554246 11p15.4 11 3360313T> C null H R 236 236 missense 0.884 possibly damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564912971 11p15.4 11 3360311T> C null R G 237 237 missense 0.053 benign 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1475782521 11p15.4 11 3360310C> A null R I 237 237 missense 0.277 benign 0.06 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ExAC,TOPMed,gnomAD rs184660103 11p15.4 11 3360308G> A null R C 238 238 2.0E-4 missense 0.0 benign 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376274624 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11p15.4 11 3360307C> T null R H 238 238 missense 0.0 benign 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ExAC,TOPMed,gnomAD rs184660103 11p15.4 11 3360308G> T null R S 238 238 2.0E-4 missense 0.021 benign 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs754191164 11p15.4 11 3360304T> C null N S 239 239 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1167917569 11p15.4 11 3360305T> A null N Y 239 239 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs766884356 11p15.4 11 3360301A> G null I T 240 240 missense 0.824 possibly damaging 0.49 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1484642387 11p15.4 11 3360302T> C null I V 240 240 missense 0.453 possibly damaging 0.93 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs761141317 11p15.4 11 3360298C> T null S N 241 241 missense 0.876 possibly damaging 0.39 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1270299525 11p15.4 11 3360284T> C null K E 246 246 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1375812443 11p15.4 11 3360280G> A null P L 247 247 missense 0.05 benign 0.14 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564912821 11p15.4 11 3360276G> C null F L 248 248 missense 0.825 possibly damaging 0.07 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs773716265 11p15.4 11 3360274T> C null K R 249 249 missense 0.915 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1294286990 11p15.4 11 3360271C> T null C Y 250 250 missense 0.942 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs200406151 11p15.4 11 3360267T> G null Q H 251 251 missense 0.878 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl,NCI-TCGA rs267602860 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 3360253G> A null S F 256 256 missense 0.961 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs780909093 11p15.4 11 3360248G> T null Q K 258 258 missense 0.535 possibly damaging 0.39 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs567639031 11p15.4 11 3360247T> C null Q R 258 258 missense 0.659 possibly damaging 0.39 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs770898479 11p15.4 11 3360241A> C null L R 260 260 missense 0.2 benign 0.37 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs928875884 11p15.4 11 3360239A> T null S T 261 261 missense 0.825 possibly damaging 0.05 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs777865994 11p15.4 11 3360229G> A null T I 264 264 missense 0.964 probably damaging 0.1 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs777865994 11p15.4 11 3360229G> C null T S 264 264 missense 0.915 probably damaging 0.28 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs758502898 11p15.4 11 3360227C> G null E Q 265 265 missense 0.946 probably damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs755929724 11p15.4 11 3360224G> A null H Y 266 266 missense 0.824 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs752850863 11p15.4 11 3360211T> G null H P 270 270 missense 0.884 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs752850863 11p15.4 11 3360211T> C null H R 270 270 missense 0.884 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs779242782 11p15.4 11 3360202T> A null K I 273 273 missense 0.984 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs779242782 11p15.4 11 3360202T> C null K R 273 273 missense 0.915 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564912593 11p15.4 11 3360197A> T null F I 275 275 missense 0.02 benign 0.09 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs370210095 11p15.4 11 3360184C> T null G E 279 279 missense 0.997 probably damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC rs755201601 11p15.4 11 3360185C> T null G R 279 279 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs948411987 11p15.4 11 3360182C> T null E K 280 280 missense 0.915 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs973814621 11p15.4 11 3360175C> T null G D 282 282 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs915679412 11p15.4 11 3360176C> T null G S 282 282 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs866480056 11p15.4 11 3360169G> A null T I 284 284 missense 0.964 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs866480056 11p15.4 11 3360169G> C null T S 284 284 missense 0.915 probably damaging 0.09 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564912497 11p15.4 11 3360157C> A null C F 288 288 missense 0.921 probably damaging 0.79 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs766587652 11p15.4 11 3360158A> C null C G 288 288 missense 0.884 possibly damaging 0.31 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs367829346 11p15.4 11 3360155A> G null S P 289 289 missense 0.92 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ExAC,TOPMed,gnomAD rs200522619 11p15.4 11 3360147A> C null F L 291 291 2.0E-4 missense 0.825 possibly damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62619253 11p15.4 11 3360139G> T null P H 294 294 0.2238 missense 0.0 benign 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs62619253 11p15.4 11 3360139G> C null P R 294 294 0.2238 missense 0.026 benign 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs768046996 11p15.4 11 3360140G> A null P S 294 294 missense 0.017 benign 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs768046996 11p15.4 11 3360140G> T null P T 294 294 missense 0.049 benign 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1400883020 11p15.4 11 3360136T> C null E G 295 295 missense 0.017 benign 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs982599802 11p15.4 11 3360133T> C null N S 296 296 missense 0.915 probably damaging 0.13 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1373335357 11p15.4 11 3360130A> C null I S 297 297 missense 0.884 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1373335357 11p15.4 11 3360130A> G null I T 297 297 missense 0.824 possibly damaging 0.05 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs759179192 11p15.4 11 3360131T> C null I V 297 297 missense 0.453 possibly damaging 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1008395651 11p15.4 11 3360125T> G null T P 299 299 missense 0.964 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs776348694 11p15.4 11 3360122C> T null G R 300 300 missense 0.998 probably damaging 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs770572721 11p15.4 11 3360121C> A null G V 300 300 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ExAC,TOPMed,gnomAD rs193077243 11p15.4 11 3360113G> A null P S 303 303 0.001997 missense 0.011 benign 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ExAC,TOPMed,gnomAD rs193077243 11p15.4 11 3360113G> T null P T 303 303 0.001997 missense 0.124 benign 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs748212570 11p15.4 11 3360107T> A null K * 305 305 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs748212570 11p15.4 11 3360107T> G null K Q 305 305 missense 0.039 benign 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1418426719 11p15.4 11 3360100T> C null Q R 307 307 missense 0.659 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs964710282 11p15.4 11 3360094C> T null C Y 309 309 missense 0.942 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs141854636 11p15.4 11 3360086C> T null V I 312 312 3.99E-4 missense 0.749 possibly damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs780347488 11p15.4 11 3360073C> G null C S 316 316 missense 0.824 possibly damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1316821470 11p15.4 11 3360068C> A null V F 318 318 missense 0.946 probably damaging 0.67 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1316821470 11p15.4 11 3360068C> T null V I 318 318 missense 0.737 possibly damaging 0.49 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs756394591 11p15.4 11 3360059T> C null K E 321 321 missense 0.915 probably damaging 0.31 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed rs373208630 11p15.4 11 3360058T> A null K I 321 321 missense 0.984 probably damaging 0.06 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1395779555 11p15.4 11 3360046T> C null Y C 325 325 missense 0.988 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148162721 11p15.4 11 3360041C> T null G R 327 327 0.002396 missense 0.001 benign 0.06 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1196702689 11p15.4 11 3360038C> T null G R 328 328 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs764586598 11p15.4 11 3360032G> A null H Y 330 330 missense 0.824 possibly damaging 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs759096709 11p15.4 11 3360029A> G null Y H 331 331 missense 0.946 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs776095965 11p15.4 11 3360016T> C null E G 335 335 missense 0.946 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1438205590 11p15.4 11 3360017C> T null E K 335 335 missense 0.915 probably damaging 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs907504001 11p15.4 11 3360013A> G null F S 336 336 missense 0.92 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs760511490 11p15.4 11 3360011C> T null G S 337 337 missense 0.994 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs773189204 11p15.4 11 3359998T> A null N I 341 341 missense 0.984 probably damaging 0.05 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1191282568 11p15.4 11 3359996G> A null Q * 342 342 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs772121000 11p15.4 11 3359993A> G null C R 343 343 missense 0.045 benign 0.17 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1262053296 11p15.4 11 3359989G> A null S F 344 344 missense 0.961 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs748161373 11p15.4 11 3359986T> C null H R 345 345 missense 0.884 possibly damaging 0.37 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1206059671 11p15.4 11 3359987G> A null H Y 345 345 missense 0.824 possibly damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs201224365 11p15.4 11 3359980G> A null T I 347 347 missense 0.964 probably damaging 0.07 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1349235649 11p15.4 11 3359974T> C null H R 349 349 missense 0.0 benign 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1213577268 11p15.4 11 3359975G> A null H Y 349 349 missense 0.03 benign 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1456239502 11p15.4 11 3359968T> C null H R 351 351 missense 0.0 benign 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs749418263 11p15.4 11 3359966C> T null G S 352 352 missense 0.006 benign 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs756380965 11p15.4 11 3359940A> C null Y * 360 360 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs746222379 11p15.4 11 3359939C> T null E K 361 361 missense 0.915 probably damaging 0.14 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1381894862 11p15.4 11 3359933A> G null C R 363 363 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs982673149 11p15.4 11 3359929C> G null S T 364 364 missense 0.825 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs757625167 11p15.4 11 3359918T> C null I V 368 368 missense 0.0 benign 0.18 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1045953072 11p15.4 11 3359915A> C null S A 369 369 missense 0.737 possibly damaging 0.52 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1045953072 11p15.4 11 3359915A> T null S T 369 369 missense 0.825 possibly damaging 0.4 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,TOPMed,gnomAD rs376410431 11p15.4 11 3359909A> G null S P 371 371 missense 0.92 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373253796 11p15.4 11 3359904G> C null S R 372 372 3.99E-4 missense 0.92 probably damaging 0.31 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373253796 11p15.4 11 3359904G> T null S R 372 372 3.99E-4 missense 0.92 probably damaging 0.31 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1450842330 11p15.4 11 3359903G> A null L F 373 373 missense 0.974 probably damaging 0.05 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs765926041 11p15.4 11 3359896T> C null N S 375 375 missense 0.915 probably damaging 0.32 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1191969999 11p15.4 11 3359897T> A null N Y 375 375 missense 0.984 probably damaging 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1280590670 11p15.4 11 3359891G> A null Q * 377 377 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1232978448 11p15.4 11 3359884A> G null I T 379 379 missense 0.824 possibly damaging 0.05 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs751528875 11p15.4 11 3359875C> T null G E 382 382 missense 0.997 probably damaging 0.05 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1260002124 11p15.4 11 3359876C> T null G R 382 382 missense 0.998 probably damaging 0.05 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs974052423 11p15.4 11 3359872T> C null E G 383 383 missense 0.946 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564911765 11p15.4 11 3359867G> C null L V 385 385 missense 0.937 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1207961356 11p15.4 11 3359857C> A null C F 388 388 missense 0.921 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs766432667 11p15.4 11 3359858A> G null C R 388 388 missense 0.942 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs767351981 11p15.4 11 3359848C> T null W * 391 391 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564911745 11p15.4 11 3359849A> G null W R 391 391 missense 0.976 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1341511443 11p15.4 11 3359842T> C null K R 393 393 missense 0.0 benign 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1438182175 11p15.4 11 3359840C> T null G S 394 394 missense 0.994 probably damaging 0.06 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs761724338 11p15.4 11 3359836A> C null F C 395 395 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs768679506 11p15.4 11 3359834T> G null N H 396 396 missense 0.984 probably damaging 0.07 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1018353780 11p15.4 11 3359828T> C null S G 398 398 missense 0.0 benign 0.12 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs116076465 11p15.4 11 3359827C> G null S T 398 398 5.99E-4 missense 0.009 benign 0.15 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs982652041 11p15.4 11 3359808G> C null H Q 404 404 missense 0.755 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs200094821 11p15.4 11 3359809T> C null H R 404 404 missense 0.755 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,NCI-TCGA,TOPMed,gnomAD rs775701149 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 11p15.4 11 3359804T> C null R G 406 406 missense 0.808 possibly damaging 0.21 tolerated 1 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375079282 11p15.4 11 3359798C> T null E K 408 408 2.0E-4 missense 0.915 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs746025928 11p15.4 11 3359794A> G null I T 409 409 missense 0.824 possibly damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1396522887 11p15.4 11 3359792C> T null G R 410 410 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1166816419 11p15.4 11 3359783G> T null P T 413 413 missense 0.949 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs933806724 11p15.4 11 3359776T> C null K R 415 415 missense 0.813 possibly damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs781408507 11p15.4 11 3359773C> T null C Y 416 416 missense 0.985 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs922523353 NCI-TCGA Cosmic [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 11p15.4 11 3359771C> T null E K 417 417 missense 0.915 probably damaging 0.08 tolerated 1 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ExAC,TOPMed,gnomAD rs189086448 11p15.4 11 3359768C> T null E K 418 418 0.005391 missense 0.87 possibly damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1440071077 11p15.4 11 3359762C> G null D H 420 420 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs867019610 11p15.4 11 3359758C> T null S N 421 421 missense 0.876 possibly damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1251249601 11p15.4 11 3359757G> C null S R 421 421 missense 0.92 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs778107450 11p15.4 11 3359749T> C null K R 424 424 missense 0.915 probably damaging 0.27 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1415570298 11p15.4 11 3359742G> T null F L 426 426 missense 0.825 possibly damaging 0.65 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1312470492 11p15.4 11 3359744A> C null F V 426 426 missense 0.92 probably damaging 0.47 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1295398094 11p15.4 11 3359734A> C null L R 429 429 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs753274357 11p15.4 11 3359729T> C null K E 431 431 missense 0.915 probably damaging 0.46 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1338743154 11p15.4 11 3359728T> C null K R 431 431 missense 0.915 probably damaging 0.6 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs755688623 11p15.4 11 3359721C> G null K N 433 433 missense 0.946 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs779680333 11p15.4 11 3359723T> G null K Q 433 433 missense 0.946 probably damaging 0.09 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1244243374 11p15.4 11 3359720T> C null R G 434 434 missense 0.808 possibly damaging 0.1 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC rs750049783 11p15.4 11 3359719C> T null R K 434 434 missense 0.428 benign 0.32 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs767310998 11p15.4 11 3359714G> A null H Y 436 436 missense 0.744 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1283517203 11p15.4 11 3359711T> C null T A 437 437 missense 0.514 possibly damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs761670905 11p15.4 11 3359710G> A null T I 437 437 missense 0.944 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs763017245 11p15.4 11 3359687C> T null D N 445 445 missense 0.035 benign 0.1 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs369354050 11p15.4 11 3359684C> T null E K 446 446 missense 0.877 possibly damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs369354050 11p15.4 11 3359684C> G null E Q 446 446 missense 0.93 probably damaging 0.05 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs771179186 11p15.4 11 3359677C> T null G E 448 448 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1181135955 11p15.4 11 3359674T> C null K R 449 449 missense 0.813 possibly damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1436112877 11p15.4 11 3359672C> T null A T 450 450 missense 0.001 benign 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed rs376345256 11p15.4 11 3359659G> T null S Y 454 454 missense 0.976 probably damaging 0.23 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1254992324 11p15.4 11 3359651G> A null L F 457 457 missense 0.937 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1225307924 11p15.4 11 3359623C> T null G E 466 466 missense 0.997 probably damaging 0.06 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs748619890 11p15.4 11 3359624C> T null G R 466 466 missense 0.998 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1225307924 11p15.4 11 3359623C> A null G V 466 466 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs990541685 11p15.4 11 3359614G> A null P L 469 469 missense 0.985 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1236824622 11p15.4 11 3359608T> A null Q L 471 471 missense 0.659 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1370312537 11p15.4 11 3359605C> T null C Y 472 472 missense 0.985 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs749994834 11p15.4 11 3359600C> T null E K 474 474 missense 0.87 possibly damaging 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs780970269 11p15.4 11 3359594C> A null G W 476 476 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs751311312 11p15.4 11 3359588C> A null V F 478 478 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,NCI-TCGA,gnomAD rs751311312 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 3359588C> T null V I 478 478 missense 0.737 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs773417419 11p15.4 11 3359566A> C null L R 485 485 missense 0.972 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs758145014 11p15.4 11 3359564A> G null S P 486 486 missense 0.92 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1230731252 11p15.4 11 3359561T> G null N H 487 487 missense 0.984 probably damaging 0.09 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1158447554 11p15.4 11 3359557T> C null H R 488 488 missense 0.755 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1386173621 11p15.4 11 3359558G> A null H Y 488 488 missense 0.744 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs372904601 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 3359551C> T null R K 490 490 missense 0.428 benign 0.76 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1396898807 11p15.4 11 3359545T> A null H L 492 492 missense 0.755 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs367564176 11p15.4 11 3359544A> C null H Q 492 492 missense 0.755 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1396898807 11p15.4 11 3359545T> C null H R 492 492 missense 0.755 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs999012183 11p15.4 11 3359539T> C null E G 494 494 missense 0.946 probably damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564910986 11p15.4 11 3359530G> C null P R 497 497 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs759578539 11p15.4 11 3359527T> C null Y C 498 498 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ExAC,TOPMed,gnomAD rs559329436 cosmic curated [Cosmic]: large_intestine cosmic_study:375 11p15.4 11 3359524G> A null T M 499 499 2.0E-4 missense 0.99 probably damaging 0.0 deleterious 1 A0A087WT67 ZNF195 Zinc finger protein 195 1000Genomes,ExAC,gnomAD rs143840804 11p15.4 11 3359521C> T null C Y 500 500 2.0E-4 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1257848399 11p15.4 11 3359512C> G null C S 503 503 missense 0.653 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1230458067 11p15.4 11 3359504T> C null I V 506 506 missense 0.453 possibly damaging 0.09 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs748494059 11p15.4 11 3359494T> A null Q L 509 509 missense 0.632 possibly damaging 0.7 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs769336620 11p15.4 11 3359486C> G null D H 512 512 missense 0.99 probably damaging 0.57 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs780920859 11p15.4 11 3359482A> C null L R 513 513 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1327336641 11p15.4 11 3359479G> C null T S 514 514 missense 0.613 possibly damaging 0.23 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs368117802 11p15.4 11 3359473T> C null H R 516 516 missense 0.871 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs746618339 11p15.4 11 3359459T> C null T A 521 521 missense 0.514 possibly damaging 0.05 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs765445984 11p15.4 11 3359447G> A null P S 525 525 missense 0.949 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs758170072 11p15.4 11 3359441T> G null K Q 527 527 missense 0.721 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs752525366 11p15.4 11 3359435C> T null D N 529 529 missense 0.968 probably damaging 0.08 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 NCI-TCGA,TOPMed,gnomAD rs376637698 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 3359432C> T null E K 530 530 missense 0.877 possibly damaging 0.05 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs754962241 11p15.4 11 3359419T> C null N S 534 534 missense 0.915 probably damaging 0.04 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1190840865 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 3359407G> A null S F 538 538 missense 0.961 probably damaging 0.23 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1281004801 11p15.4 11 3359399G> C null L V 541 541 missense 0.895 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs942685964 11p15.4 11 3359393C> T null V I 543 543 missense 0.277 benign 0.18 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1214728637 11p15.4 11 3359389T> C null H R 544 544 missense 0.871 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,TOPMed rs370689553 11p15.4 11 3359385C> G null K N 545 545 missense 0.946 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,NCI-TCGA,gnomAD rs762257524 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11p15.4 11 3359383C> A null R I 546 546 missense 0.912 probably damaging 0.28 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs767673926 11p15.4 11 3359380A> G null I T 547 547 missense 0.824 possibly damaging 0.06 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs376323132 11p15.4 11 3359377T> A null H L 548 548 missense 0.755 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs376323132 11p15.4 11 3359377T> C null H R 548 548 missense 0.755 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs986873274 11p15.4 11 3359374G> A null T I 549 549 missense 0.944 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1465700202 11p15.4 11 3359369C> T null E K 551 551 missense 0.87 possibly damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs769283276 11p15.4 11 3359364T> A null K N 552 552 missense 0.941 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs749749439 11p15.4 11 3359363G> C null P A 553 553 missense 0.946 probably damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs776158075 11p15.4 11 3359353C> T null C Y 556 556 missense 0.985 probably damaging 0.02 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1433041388 11p15.4 11 3359342C> T null G S 560 560 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1357441438 11p15.4 11 3359338C> T null R K 561 561 missense 0.65 possibly damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs777448499 11p15.4 11 3359335A> G null V A 562 562 missense 0.825 possibly damaging 1.0 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs373409995 11p15.4 11 3359336C> T null V I 562 562 missense 0.737 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ESP,ExAC,TOPMed,gnomAD rs373409995 11p15.4 11 3359336C> G null V L 562 562 missense 0.737 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs1564910423 11p15.4 11 3359333A> G null F L 563 563 missense 0.808 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1476043216 11p15.4 11 3359329A> G null M T 564 564 missense 0.535 possibly damaging 0.31 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1303084081 11p15.4 11 3359326C> T null W * 565 565 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs878952477 11p15.4 11 3359327A> T null W R 565 565 missense 0.976 probably damaging 0.4 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs747920643 11p15.4 11 3359324A> C null F V 566 566 missense 0.92 probably damaging 0.45 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs778742704 11p15.4 11 3359312T> C null T A 570 570 missense 0.013 benign 0.11 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1234115336 11p15.4 11 3359311G> C null T S 570 570 missense 0.0 benign 0.27 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs754771154 11p15.4 11 3359308T> C null K R 571 571 missense 0.915 probably damaging 0.31 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs933818026 11p15.4 11 3359305T> C null H R 572 572 missense 0.871 possibly damaging 0.0 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1270491497 11p15.4 11 3359281T> G null K T 580 580 missense 0.941 probably damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs779876785 11p15.4 11 3359264C> A null E * 586 586 stop gained 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs756189578 11p15.4 11 3359262T> G null E D 586 586 missense 0.514 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,NCI-TCGA,gnomAD rs779876785 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p15.4 11 3359264C> T null E K 586 586 missense 0.877 possibly damaging 0.03 deleterious 1 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs767767271 11p15.4 11 3359247A> C null F L 591 591 missense 0.808 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs763436510 11p15.4 11 3359231G> A null L F 597 597 missense 0.983 probably damaging 0.06 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs776102952 11p15.4 11 3359226A> C null I M 598 598 missense 0.921 probably damaging 0.09 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs777187713 11p15.4 11 3359225C> A null V L 599 599 missense 0.277 benign 0.15 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1177239872 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11p15.4 11 3359215C> A null R I 602 602 missense 0.912 probably damaging 0.3 tolerated 1 A0A087WT67 ZNF195 Zinc finger protein 195 Ensembl rs551670550 11p15.4 11 3359212A> G null I T 603 603 missense 0.824 possibly damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1480001677 11p15.4 11 3359209T> C null H R 604 604 missense 0.755 possibly damaging 0.01 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed,gnomAD rs1033189679 11p15.4 11 3359206G> A null T I 605 605 missense 0.944 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs772652328 11p15.4 11 3359204C> T null G R 606 606 missense 0.998 probably damaging 0.08 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1351890232 11p15.4 11 3359200T> C null E G 607 607 missense 0.941 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs771748449 11p15.4 11 3359194G> A null P L 609 609 missense 0.985 probably damaging 0.05 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs747732338 cosmic curated [Cosmic]: lung cosmic_study:583 11p15.4 11 3359191T> C null Y C 610 610 missense 0.987 probably damaging 0.02 deleterious 1 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs778550359 11p15.4 11 3359185C> T null C Y 612 612 missense 0.985 probably damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1334943542 11p15.4 11 3359161G> A null T I 620 620 missense 0.964 probably damaging 0.27 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 TOPMed rs1224404729 11p15.4 11 3359158T> G null Q P 621 621 missense 0.825 possibly damaging 0.13 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 gnomAD rs1307184400 11p15.4 11 3359150G> A null H Y 624 624 missense 0.824 possibly damaging 0.71 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs750511570 11p15.4 11 3359131C> G null S T 630 630 missense 0.825 possibly damaging 0.59 tolerated 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,gnomAD rs781066718 11p15.4 11 3359123T> C null T A 633 633 missense 0.514 possibly damaging 0.03 deleterious 0 A0A087WT67 ZNF195 Zinc finger protein 195 ExAC,TOPMed,gnomAD rs757428990 11p15.4 11 3359122G> C null T S 633 633 missense 0.613 possibly damaging 0.15 tolerated 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 gnomAD rs1485586325 12q24.33 12 132606247G> T null A D 2 2 missense 0.826 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 ExAC,TOPMed,gnomAD rs757512851 12q24.33 12 132606245C> T null G S 3 3 missense 0.934 probably damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 gnomAD rs1462629168 12q24.33 12 132606244C> A null G V 3 3 missense 0.98 probably damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 ExAC,TOPMed,gnomAD rs777384759 12q24.33 12 132606241G> A null P L 4 4 missense 0.856 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 ExAC,TOPMed,gnomAD rs777384759 12q24.33 12 132606241G> T null P Q 4 4 missense 0.908 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 ExAC rs746702568 12q24.33 12 132606242G> A null P S 4 4 missense 0.81 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 gnomAD rs1297286399 12q24.33 12 132606239C> T null G R 5 5 missense 0.98 probably damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 gnomAD rs1294835662 12q24.33 12 132606235C> T null W * 6 6 stop gained 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 ExAC,TOPMed,gnomAD rs541292754 12q24.33 12 132606234C> A null W C 6 6 missense 0.883 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 gnomAD rs1294835662 12q24.33 12 132606235C> A null W L 6 6 missense 0.514 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 TOPMed rs1354813542 12q24.33 12 132606236A> T null W R 6 6 missense 0.788 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 TOPMed,gnomAD rs920132571 12q24.33 12 132606233T> C null T A 7 7 missense 0.398 benign 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 1000Genomes,ExAC,TOPMed rs12819734 12q24.33 12 132606232G> A null T M 7 7 0.4898 missense 0.895 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 gnomAD rs1273869075 12q24.33 12 132606223A> T null L Q 10 10 missense 0.887 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 TOPMed,gnomAD rs1428090606 12q24.33 12 132606221G> C null L V 11 11 missense 0.578 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 gnomAD rs1185571588 12q24.33 12 132606218G> T null L M 12 12 missense 0.826 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 Ensembl rs866289775 12q24.33 12 132606208A> G null L P 15 15 missense 0.887 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 TOPMed rs1414690999 12q24.33 12 132606193G> A null S F 20 20 missense 0.692 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 ExAC,TOPMed,gnomAD rs564723635 12q24.33 12 132606194A> T null S T 20 20 missense 0.302 benign 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 TOPMed,gnomAD rs1247606026 12q24.33 12 132606190A> G null M T 21 21 missense 0.095 benign 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 TOPMed,gnomAD rs1382808730 12q24.33 12 132606179C> T null G R 25 25 missense 0.98 probably damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 1000Genomes,gnomAD rs529621157 12q24.33 12 132606173G> C null Q E 27 27 2.0E-4 missense 0.095 benign 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 gnomAD rs1376011055 12q24.33 12 132606170T> G null K Q 28 28 missense 0.617 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 gnomAD rs1299144994 12q24.33 12 132606165C> G null K N 29 29 missense 0.617 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 TOPMed,gnomAD rs892290923 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 12q24.33 12 132606163A> G null L S 30 30 missense 0.773 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 ExAC,gnomAD rs751877845 12q24.33 12 132606152G> A null H Y 34 34 missense 0.3 benign 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 gnomAD rs1182938741 12q24.33 12 132606149T> C null K E 35 35 missense 0.497 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 gnomAD rs1335958864 12q24.33 12 132606148T> A null K M 35 35 missense 0.895 possibly damaging 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 TOPMed rs1470514957 12q24.33 12 132604962T> G null K T 36 36 missense 0.0 benign 0 A0A087WT69 LRCOL1 Leucine-rich colipase-like protein 1 TOPMed rs1179183673 12q24.33 12 132604932C> T null W * 46 46 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1157203537 11q13.5 11 77130638G> C null V L 2 2 missense 0.558 possibly damaging 0.16 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781989117 11q13.5 11 77142710G> A null G E 7 7 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372509310 11q13.5 11 77142709G> C null G R 7 7 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs372509310 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77142709G> A null G R 7 7 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000988597 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs781989117 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77142710G> T null G V 7 7 missense 1.0 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000681538 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555051400 11q13.5 11 77142716A> T null H L 9 9 missense 0.001 benign 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs878853237 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77142719T> C null V A 10 10 missense 0.987 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000675065 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs878853237 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77142719T> C null V A 10 10 missense 0.987 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000675065 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555051405 11q13.5 11 77142718G> A null V M 10 10 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555051419 11q13.5 11 77142723G> A null W * 11 11 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1307924861 11q13.5 11 77142722G> A null W * 11 11 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782409363 11q13.5 11 77142725T> C null M T 12 12 missense 0.068 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs199989979 11q13.5 11 77142729C> A null D E 13 13 7.99E-4 missense 0.99 probably damaging 0.52 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555051432 11q13.5 11 77142727G> C null D H 13 13 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1052030 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77142737T> A null L * 16 16 0.4864 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000664572 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1052030 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77142737T> A null L * 16 16 0.4864 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000664572 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1052030 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226 11q13.5 11 77142737T> C null L S 16 16 0.4864 missense 0.0 benign 1.0 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000261128 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1052030 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226 11q13.5 11 77142737T> C null L S 16 16 0.4864 missense 0.0 benign 1.0 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000353260 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1052030 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226 11q13.5 11 77142737T> C null L S 16 16 0.4864 missense 0.0 benign 1.0 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000677332 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782098316 11q13.5 11 77142739G> A null G R 17 17 missense 0.006 benign 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555051455 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77142742C> T null Q * 18 18 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000668877 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555051455 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77142742C> T null Q * 18 18 stop gained 0 Rare genetic deafness ClinVar:RCV000610416 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555051455 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77142742C> T null Q * 18 18 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000668877 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs371849195 11q13.5 11 77142744G> C null Q H 18 18 missense 0.0 benign 0.24 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781869170 11q13.5 11 77142745G> C null E Q 19 19 missense 0.403 benign 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782546306 11q13.5 11 77142751G> A null D N 21 21 missense 0.246 benign 0.34 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555051493 11q13.5 11 77142755T> G null V G 22 22 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs376701580 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77142754G> T null V L 22 22 missense 0.989 probably damaging 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs376701580 11q13.5 11 77142754G> A null V M 22 22 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs200872817 11q13.5 11 77142760A> T null I F 24 24 missense 0.395 benign 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs200872817 11q13.5 11 77142760A> G null I V 24 24 missense 0.001 benign 0.14 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782252317 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226,pubmed:9002678 11q13.5 11 77142763G> A null G R 25 25 missense 1.0 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000674570 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782252317 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226,pubmed:9002678 11q13.5 11 77142763G> A null G R 25 25 missense 1.0 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000154329 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782252317 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226,pubmed:9002678 11q13.5 11 77142763G> A null G R 25 25 missense 1.0 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV001073538 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782252317 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226,pubmed:9002678 11q13.5 11 77142763G> A null G R 25 25 missense 1.0 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782252317 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226,pubmed:9002678 11q13.5 11 77142763G> A null G R 25 25 missense 1.0 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000674570 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782252317 11q13.5 11 77142763G> T null G W 25 25 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,dbSNP,gnomAD rs369125667 [ClinVar]: Rare genetic deafness pubmed:10930322 11q13.5 11 77142767C> A null A E 26 26 missense 0.998 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000154340 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,dbSNP,gnomAD rs369125667 [ClinVar]: Rare genetic deafness pubmed:10930322 11q13.5 11 77142767C> A null A E 26 26 missense 0.998 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,gnomAD rs369125667 11q13.5 11 77142767C> T null A V 26 26 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35689081 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10094549,pubmed:8900236 11q13.5 11 77142783C> A null C * 31 31 0.01657 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000665804 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35689081 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10094549,pubmed:8900236 11q13.5 11 77142783C> A null C * 31 31 0.01657 stop gained 0 Rare genetic deafness ClinVar:RCV000154341 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35689081 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10094549,pubmed:8900236 11q13.5 11 77142783C> A null C * 31 31 0.01657 stop gained 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000787856 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35689081 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10094549,pubmed:8900236 11q13.5 11 77142783C> A null C * 31 31 0.01657 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000665804 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35689081 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Retinitis pigmentosa, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10094549,pubmed:8900236 11q13.5 11 77142783C> A null C * 31 31 0.01657 stop gained 0 Usher syndrome, type 1B (USH1B) Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. ClinVar:RCV000012634 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782363121 11q13.5 11 77142784G> C null D H 32 32 missense 0.999 probably damaging 0.17 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782363121 11q13.5 11 77142784G> A null D N 32 32 missense 0.994 probably damaging 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1565310188 11q13.5 11 77142788C> T null S F 33 33 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP rs373662540 11q13.5 11 77142787T> C null S P 33 33 missense 0.991 probably damaging 0.5 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1201506175 11q13.5 11 77142796G> A null V I 36 36 missense 0.0 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs900210990 11q13.5 11 77142805G> T null V L 39 39 missense 0.0 benign 0.39 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs931895407 11q13.5 11 77142813T> A null D E 41 41 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782032952 11q13.5 11 77142811G> A null D N 41 41 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782032952 11q13.5 11 77142811G> T null D Y 41 41 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs368877140 11q13.5 11 77147798G> T null E * 45 45 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1383661917 11q13.5 11 77147799A> G null E G 45 45 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555054593 11q13.5 11 77147803C> G null H Q 46 46 missense 0.015 benign 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs397516285 [ClinVar]: Rare genetic deafness 11q13.5 11 77147806G> A null W * 47 47 stop gained 0 Rare genetic deafness ClinVar:RCV000036050 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,gnomAD rs372170717 11q13.5 11 77147814C> T null P L 50 50 missense 0.017 benign 0.16 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,gnomAD rs372170717 11q13.5 11 77147814C> A null P Q 50 50 missense 0.935 probably damaging 0.3 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs375662903 11q13.5 11 77147817A> C null Q P 51 51 missense 0.853 possibly damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs886048669 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147821C> G null N K 52 52 missense 0.007 benign 0.14 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000285555 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs886048669 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147821C> G null N K 52 52 missense 0.007 benign 0.14 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000403334 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs886048669 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147821C> G null N K 52 52 missense 0.007 benign 0.14 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000342500 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1565320027 11q13.5 11 77147822G> T null A S 53 53 missense 0.952 probably damaging 0.72 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs369142107 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147825A> G null T A 54 54 3.99E-4 missense 0.001 benign 0.49 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000395630 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs369142107 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147825A> G null T A 54 54 3.99E-4 missense 0.001 benign 0.49 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000298034 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs369142107 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147825A> G null T A 54 54 3.99E-4 missense 0.001 benign 0.49 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000355269 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782568869 11q13.5 11 77147826C> T null T M 54 54 missense 0.006 benign 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1565320103 11q13.5 11 77147829A> G null H R 55 55 missense 0.025 benign 0.68 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555054651 11q13.5 11 77147832T> C null I T 56 56 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1369947369 11q13.5 11 77147831A> G null I V 56 56 missense 0.927 probably damaging 0.31 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs965791275 11q13.5 11 77147838C> T null P L 58 58 missense 0.303 benign 0.14 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555054661 11q13.5 11 77147837C> T null P S 58 58 missense 0.961 probably damaging 0.09 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555054685 11q13.5 11 77147841T> C null M T 59 59 missense 0.922 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs975664462 11q13.5 11 77147840A> G null M V 59 59 missense 0.879 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555054697 11q13.5 11 77147846C> G null P A 61 61 missense 0.996 probably damaging 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs397516289 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147847C> G null P R 61 61 missense 0.998 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000672717 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs397516289 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147847C> G null P R 61 61 missense 0.998 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000672717 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782412089 11q13.5 11 77147850C> T null T M 62 62 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782191305 11q13.5 11 77147856T> C null V A 64 64 missense 0.075 benign 0.39 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555054731 11q13.5 11 77147861G> A null G S 66 66 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782329295 11q13.5 11 77147862G> T null G V 66 66 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555054747 pubmed:10930322 11q13.5 11 77147864G> A null V M 67 67 missense 0.996 probably damaging 0.01 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1210937627 11q13.5 11 77147879C> T null R C 72 72 missense 0.996 probably damaging 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs886048670 11q13.5 11 77147880G> A null R H 72 72 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs886048670 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147880G> T null R L 72 72 missense 0.992 probably damaging 0.06 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000275973 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs886048670 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147880G> T null R L 72 72 missense 0.992 probably damaging 0.06 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000315275 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs886048670 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147880G> T null R L 72 72 missense 0.992 probably damaging 0.06 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000363005 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs886048670 11q13.5 11 77147880G> C null R P 72 72 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,TOPMed,dbSNP,gnomAD rs372188355 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147883T> C null L P 73 73 missense 0.998 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000672457 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,TOPMed,dbSNP,gnomAD rs372188355 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147883T> C null L P 73 73 missense 0.998 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000672457 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782757893 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147890C> A null D E 75 75 missense 0.986 probably damaging 0.07 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000384820 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782757893 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147890C> A null D E 75 75 missense 0.986 probably damaging 0.07 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000270634 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782757893 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147890C> A null D E 75 75 missense 0.986 probably damaging 0.07 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000328010 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1565320509 11q13.5 11 77147888G> T null D Y 75 75 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781999112 11q13.5 11 77147894A> C null N H 77 77 missense 0.422 benign 0.33 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555054796 11q13.5 11 77147900G> A null A T 79 79 missense 0.993 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs376796087 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147904G> A null G D 80 80 missense 0.999 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000264654 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs376796087 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147904G> A null G D 80 80 missense 0.999 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000322029 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs376796087 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147904G> A null G D 80 80 missense 0.999 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000378972 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781790246 11q13.5 11 77147912C> T null R C 83 83 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782444985 11q13.5 11 77147913G> A null R H 83 83 missense 0.994 probably damaging 0.49 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782444985 11q13.5 11 77147913G> T null R L 83 83 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs781790246 [ClinVar]: Deafness 11q13.5 11 77147912C> A null R S 83 83 missense 0.992 probably damaging 0.0 deleterious 0 Deafness ClinVar:RCV000679823 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782738409 11q13.5 11 77147917C> G null N K 84 84 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1325184426 11q13.5 11 77147919T> C null L P 85 85 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1405840651 11q13.5 11 77147927C> T null R C 88 88 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1405840651 11q13.5 11 77147927C> G null R G 88 88 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1165878942 11q13.5 11 77147934G> T null R L 90 90 missense 0.251 benign 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs781834630 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77147933C> T null R W 90 90 missense 0.859 possibly damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000988599 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782509209 11q13.5 11 77147938C> A null D E 91 91 missense 0.001 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs939731190 11q13.5 11 77147936G> C null D H 91 91 missense 0.606 possibly damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs939731190 11q13.5 11 77147936G> T null D Y 91 91 missense 0.628 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555054886 11q13.5 11 77147946T> C null I T 94 94 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs797044489 [ClinVar]: Rare genetic deafness 11q13.5 11 77147949A> T null Y F 95 95 missense 0.98 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000151475 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781811444 11q13.5 11 77155908C> A null T K 96 96 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs781811444 NCI-TCGA Cosmic [ClinVar]: Rare genetic deafness, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11q13.5 11 77155908C> T null T M 96 96 missense 0.998 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000156777 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782623312 11q13.5 11 77155911A> G null Y C 97 97 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555061383 11q13.5 11 77155910T> C null Y H 97 97 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1434564086 11q13.5 11 77155914C> T null T M 98 98 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555061415 11q13.5 11 77155916G> A null G S 99 99 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs374967010 11q13.5 11 77155931G> A null A T 104 104 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs876657654 [ClinVar]: Rare genetic deafness 11q13.5 11 77155935T> G null V G 105 105 missense 0.996 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000219484 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555061461 11q13.5 11 77155934G> A null V M 105 105 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs1555061483 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77155939C> G null N K 106 106 missense 0.994 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000673822 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs1555061483 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77155939C> G null N K 106 106 missense 0.994 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000673822 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs116892396 [ClinVar]: Usher syndrome 11q13.5 11 77155945C> A null Y * 108 108 0.002796 stop gained 0 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV000504875 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1168387013 11q13.5 11 77155959T> C null I T 113 113 missense 0.914 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782214274 11q13.5 11 77155963C> A null Y * 114 114 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782587841 11q13.5 11 77155962A> G null Y C 114 114 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs567274631 11q13.5 11 77155965C> T null S L 115 115 2.0E-4 missense 0.09 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555061534 11q13.5 11 77155964T> C null S P 115 115 missense 0.346 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs886048671 [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77155972G> T null E D 117 117 missense 0.003 benign 0.44 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000266531 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs886048671 [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77155972G> T null E D 117 117 missense 0.003 benign 0.44 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000301710 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs886048671 [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77155972G> T null E D 117 117 missense 0.003 benign 0.44 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000358818 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782437933 11q13.5 11 77155976A> T null I F 119 119 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs397516302 11q13.5 11 77155979C> T null R C 120 120 missense 0.989 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs369493667 [ClinVar]: Pulmonic stenosis (disease) 11q13.5 11 77155980G> A null R H 120 120 missense 0.969 probably damaging 0.25 tolerated 0 Pulmonic stenosis (disease) MIM:265500 ClinVar:RCV001196537 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs369493667 [ClinVar]: Pulmonic stenosis (disease) 11q13.5 11 77155980G> A null R H 120 120 missense 0.969 probably damaging 0.25 tolerated 0 Ventricular septal defect MIM:PS614429 ClinVar:RCV001196537 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs397516302 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77155979C> A null R S 120 120 missense 0.94 probably damaging 0.04 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000665697 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs397516302 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77155979C> A null R S 120 120 missense 0.94 probably damaging 0.04 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000665697 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782124298 11q13.5 11 77155986A> G null Y C 122 122 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782783261 11q13.5 11 77155989C> T null T I 123 123 missense 0.973 probably damaging 0.3 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782783261 11q13.5 11 77155989C> G null T S 123 123 missense 0.913 probably damaging 0.37 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781892272 11q13.5 11 77155993C> A null N K 124 124 missense 0.957 probably damaging 0.19 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes rs529782795 11q13.5 11 77155995A> G null K R 125 125 2.0E-4 missense 0.003 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs41298131 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156001T> C null I T 127 127 missense 0.914 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000324036 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs41298131 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156001T> C null I T 127 127 missense 0.914 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000267119,ClinVar:RCV000665330 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs41298131 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156001T> C null I T 127 127 missense 0.914 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000371726,ClinVar:RCV000665330 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555061659 11q13.5 11 77156004G> A null G E 128 128 missense 1.0 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782473441 11q13.5 11 77156009A> G null M V 130 130 missense 0.036 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs1555061692 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156013C> T null P L 131 131 missense 0.999 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000673728 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs1555061692 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156013C> T null P L 131 131 missense 0.999 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000673728 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs377214759 11q13.5 11 77156012C> T null P S 131 131 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,gnomAD rs370395532 11q13.5 11 77156016C> G null P R 132 132 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033403 [ClinVar]: Deafness, autosomal recessive 2, [UniProt]: unknown pathological significance pubmed:16679490 11q13.5 11 77156018C> G null H D 133 133 missense 0.99 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000667248 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033403 [ClinVar]: Deafness, autosomal recessive 2, [UniProt]: unknown pathological significance pubmed:16679490 11q13.5 11 77156018C> G null H D 133 133 missense 0.99 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033403 [ClinVar]: Deafness, autosomal recessive 2, [UniProt]: unknown pathological significance pubmed:16679490 11q13.5 11 77156018C> G null H D 133 133 missense 0.99 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000667248 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033403 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156018C> A null H N 133 133 missense 0.986 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001115096 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033403 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156018C> A null H N 133 133 missense 0.986 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000665283,ClinVar:RCV001115095 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033403 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156018C> A null H N 133 133 missense 0.986 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000665283,ClinVar:RCV001115094 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs886044805 11q13.5 11 77156019A> C null H P 133 133 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033403 [ClinVar]: Rare genetic deafness 11q13.5 11 77156018C> T null H Y 133 133 missense 0.986 probably damaging 0.02 deleterious 0 Rare genetic deafness ClinVar:RCV000036132 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033181 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322 11q13.5 11 77156022T> A null I N 134 134 missense 0.996 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000673536 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033181 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322 11q13.5 11 77156022T> A null I N 134 134 missense 0.996 probably damaging 0.0 deleterious 0 MYO7A-Related Disorders ClinVar:RCV001249698 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033181 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322 11q13.5 11 77156022T> A null I N 134 134 missense 0.996 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000036134 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033181 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322 11q13.5 11 77156022T> A null I N 134 134 missense 0.996 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV001074683 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033181 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322 11q13.5 11 77156022T> A null I N 134 134 missense 0.996 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033181 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322 11q13.5 11 77156022T> A null I N 134 134 missense 0.996 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000673536 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033181 11q13.5 11 77156022T> C null I T 134 134 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,TOPMed rs376016858 11q13.5 11 77156030A> G null I V 137 137 missense 0.527 possibly damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1423971989 11q13.5 11 77156037A> G null D G 139 139 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782324007 11q13.5 11 77156036G> A null D N 139 139 missense 0.995 probably damaging 0.29 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781955330 11q13.5 11 77156046A> G null Y C 142 142 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782103244 11q13.5 11 77156049T> G null F C 143 143 missense 0.021 benign 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782384633 11q13.5 11 77156051A> G null N D 144 144 missense 0.453 possibly damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782009482 11q13.5 11 77156052A> G null N S 144 144 missense 0.041 benign 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782154922 11q13.5 11 77156055T> G null M R 145 145 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782808261 [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77156060C> T null R C 147 147 missense 0.997 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000626134 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs111033512 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11q13.5 11 77156061G> A null R H 147 147 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs79407758 11q13.5 11 77156064A> G null N S 148 148 missense 0.041 benign 0.11 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs79407758 11q13.5 11 77156064A> C null N T 148 148 missense 0.453 possibly damaging 0.05 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965079 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness pubmed:7568224 11q13.5 11 77156069C> T null R * 150 150 2.0E-4 stop gained 0 Rare genetic deafness ClinVar:RCV000036148 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965079 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness pubmed:7568224 11q13.5 11 77156069C> T null R * 150 150 2.0E-4 stop gained 0 Usher syndrome, type 1B (USH1B) Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. ClinVar:RCV000012621 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs202245413 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156070G> A null R Q 150 150 missense 0.084 benign 0.33 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000765012,ClinVar:RCV001109456 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs202245413 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156070G> A null R Q 150 150 missense 0.084 benign 0.33 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000765012,ClinVar:RCV001109455 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs202245413 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156070G> A null R Q 150 150 missense 0.084 benign 0.33 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000765012,ClinVar:RCV001109457 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs397516312 11q13.5 11 77156079G> T null C F 153 153 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs397516312 [ClinVar]: Rare genetic deafness 11q13.5 11 77156079G> A null C Y 153 153 missense 0.996 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000036154 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555062409 [UniProt]: found in patients with retinitis pigmentosa; unknown pathological significance pubmed:26720455 11q13.5 11 77156661G> A null G R 158 158 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs782171313 11q13.5 11 77156665A> G null E G 159 159 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs111033485 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156673G> A null A T 162 162 missense 0.995 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000668896 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs111033485 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156673G> A null A T 162 162 missense 0.995 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000668896 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs1472566324 [ClinVar]: Deafness, autosomal recessive 2 pubmed:16679490 11q13.5 11 77156676G> A null G R 163 163 missense 1.0 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000668444 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs1472566324 [ClinVar]: Deafness, autosomal recessive 2 pubmed:16679490 11q13.5 11 77156676G> A null G R 163 163 missense 1.0 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs1472566324 [ClinVar]: Deafness, autosomal recessive 2 pubmed:16679490 11q13.5 11 77156676G> A null G R 163 163 missense 1.0 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000668444 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP rs111033174 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226,pubmed:16679490,pubmed:24831256 11q13.5 11 77156683C> T null T M 165 165 missense 0.998 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000666360 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP rs111033174 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226,pubmed:16679490,pubmed:24831256 11q13.5 11 77156683C> T null T M 165 165 missense 0.998 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000036169 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP rs111033174 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226,pubmed:16679490,pubmed:24831256 11q13.5 11 77156683C> T null T M 165 165 missense 0.998 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555062485 11q13.5 11 77156685G> T null E * 166 166 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs886044857 11q13.5 11 77156689G> C null S T 167 167 missense 0.979 probably damaging 0.36 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555062497 11q13.5 11 77156691A> T null T S 168 168 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555062511 11q13.5 11 77156694A> T null K * 169 169 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782258764 11q13.5 11 77156695A> G null K R 169 169 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782347270 11q13.5 11 77156706C> T null Q * 173 173 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1328392144 11q13.5 11 77156707A> G null Q R 173 173 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1241078667 11q13.5 11 77156710T> C null F S 174 174 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1333226991 11q13.5 11 77156719C> G null A G 177 177 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782786331 11q13.5 11 77156728G> C null G A 180 180 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1453718975 11q13.5 11 77156730C> T null Q * 181 181 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781893704 11q13.5 11 77156737C> T null S L 183 183 missense 0.99 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1390039158 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q13.5 11 77156741G> A null W * 184 184 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781798661 11q13.5 11 77156742A> G null I V 185 185 missense 0.3 benign 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782468410 11q13.5 11 77156749A> G null Q R 187 187 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs572959359 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156751C> G null Q E 188 188 2.0E-4 missense 0.968 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000406232 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs572959359 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156751C> G null Q E 188 188 2.0E-4 missense 0.968 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000352175 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs572959359 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156751C> G null Q E 188 188 2.0E-4 missense 0.968 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000312582 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1010166278 11q13.5 11 77156758T> G null L W 190 190 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs886048672 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156760G> C null E Q 191 191 missense 0.994 probably damaging 0.06 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000396773 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs886048672 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156760G> C null E Q 191 191 missense 0.994 probably damaging 0.06 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000348805 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs886048672 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156760G> C null E Q 191 191 missense 0.994 probably damaging 0.06 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000299728 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555062640 11q13.5 11 77156764C> G null A G 192 192 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs1188616455 [UniProt]: found in a patient with Leber congenital amaurosis; unknown pathological significance, [ClinVar]: Deafness, autosomal recessive 2 pubmed:21901789 11q13.5 11 77156767C> T null T I 193 193 missense 0.447 possibly damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000669244 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs1188616455 [UniProt]: found in a patient with Leber congenital amaurosis; unknown pathological significance, [ClinVar]: Deafness, autosomal recessive 2 pubmed:21901789 11q13.5 11 77156767C> T null T I 193 193 missense 0.447 possibly damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000669244 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1188616455 11q13.5 11 77156767C> A null T N 193 193 missense 0.001 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs397516324 [ClinVar]: Rare genetic deafness 11q13.5 11 77156776T> C null L P 196 196 missense 0.999 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000036211 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782330823 11q13.5 11 77156862C> T null A V 198 198 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200241993 [ClinVar]: Retinal dystrophy 11q13.5 11 77156883T> C null I T 205 205 3.99E-4 missense 0.255 benign 0.05 tolerated 0 Retinal dystrophy ClinVar:RCV001075326 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs781946292 11q13.5 11 77156882A> G null I V 205 205 missense 0.607 possibly damaging 0.34 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782361954 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156885C> T null R C 206 206 missense 0.997 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000665969 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782361954 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156885C> T null R C 206 206 missense 0.997 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000665969 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs781998354 NCI-TCGA Cosmic [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156886G> A null R H 206 206 missense 0.996 probably damaging 0.05 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV001109567 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs781998354 NCI-TCGA Cosmic [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156886G> A null R H 206 206 missense 0.996 probably damaging 0.05 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV001113579 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781998354 11q13.5 11 77156886G> T null R L 206 206 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs878853235 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156889A> G null N S 207 207 missense 0.435 benign 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000225019 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555062924 11q13.5 11 77156898C> A null S * 210 210 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555062924 11q13.5 11 77156898C> G null S * 210 210 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033486 [ClinVar]: Retinal dystrophy, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156900A> G null S G 211 211 missense 0.979 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000675104 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033486 [ClinVar]: Retinal dystrophy, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156900A> G null S G 211 211 missense 0.979 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV001073506 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033486 [ClinVar]: Retinal dystrophy, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156900A> G null S G 211 211 missense 0.979 probably damaging 0.0 deleterious 0 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV000036230 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033486 [ClinVar]: Retinal dystrophy, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156900A> G null S G 211 211 missense 0.979 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000675104 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs121965080 [ClinVar]: Usher syndrome, type 1B pubmed:8900236 pubmed:7568224 11q13.5 11 77156903C> T null R C 212 212 missense 0.997 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs121965080 [ClinVar]: Usher syndrome, type 1B pubmed:8900236 pubmed:7568224 11q13.5 11 77156903C> T null R C 212 212 missense 0.997 probably damaging 0.0 deleterious 0 Usher syndrome, type 1B (USH1B) Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. ClinVar:RCV000012625 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934610 cosmic curated [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Deafness, autosomal recessive 2, [Cosmic]: lung pubmed:8900236 cosmic_study:583,pubmed:7568224,pubmed:8900236 11q13.5 11 77156904G> A null R H 212 212 missense 0.996 probably damaging 0.0 deleterious 1 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000665766 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934610 cosmic curated [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Deafness, autosomal recessive 2, [Cosmic]: lung pubmed:8900236 cosmic_study:583,pubmed:7568224,pubmed:8900236 11q13.5 11 77156904G> A null R H 212 212 missense 0.996 probably damaging 0.0 deleterious 1 Rare genetic deafness ClinVar:RCV000036232 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934610 cosmic curated [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Deafness, autosomal recessive 2, [Cosmic]: lung pubmed:8900236 cosmic_study:583,pubmed:7568224,pubmed:8900236 11q13.5 11 77156904G> A null R H 212 212 missense 0.996 probably damaging 0.0 deleterious 1 Retinal dystrophy ClinVar:RCV001073914 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934610 cosmic curated [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Deafness, autosomal recessive 2, [Cosmic]: lung pubmed:8900236 cosmic_study:583,pubmed:7568224,pubmed:8900236 11q13.5 11 77156904G> A null R H 212 212 missense 0.996 probably damaging 0.0 deleterious 1 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934610 cosmic curated [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Deafness, autosomal recessive 2, [Cosmic]: lung pubmed:8900236 cosmic_study:583,pubmed:7568224,pubmed:8900236 11q13.5 11 77156904G> A null R H 212 212 missense 0.996 probably damaging 0.0 deleterious 1 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000665766 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28934610 cosmic curated [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Deafness, autosomal recessive 2, [Cosmic]: lung pubmed:8900236 cosmic_study:583,pubmed:7568224,pubmed:8900236 11q13.5 11 77156904G> A null R H 212 212 missense 0.996 probably damaging 0.0 deleterious 1 Usher syndrome, type 1B (USH1B) Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. ClinVar:RCV000012624 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555062954 11q13.5 11 77156907T> A null F Y 213 213 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa NCI-TCGA,TOPMed,dbSNP,gnomAD rs111033283 cosmic curated [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2, [Cosmic]: lung pubmed:9382091 cosmic_study:417 11q13.5 11 77156909G> A null G R 214 214 missense 0.623 possibly damaging 0.0 deleterious 1 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000515404 A0A087WT71 MYO7A Unconventional myosin-VIIa NCI-TCGA,TOPMed,dbSNP,gnomAD rs111033283 cosmic curated [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2, [Cosmic]: lung pubmed:9382091 cosmic_study:417 11q13.5 11 77156909G> A null G R 214 214 missense 0.623 possibly damaging 0.0 deleterious 1 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000515404,ClinVar:RCV000667735 A0A087WT71 MYO7A Unconventional myosin-VIIa NCI-TCGA,TOPMed,dbSNP,gnomAD rs111033283 cosmic curated [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2, [Cosmic]: lung pubmed:9382091 cosmic_study:417 11q13.5 11 77156909G> A null G R 214 214 missense 0.623 possibly damaging 0.0 deleterious 1 Rare genetic deafness ClinVar:RCV000036233 A0A087WT71 MYO7A Unconventional myosin-VIIa NCI-TCGA,TOPMed,dbSNP,gnomAD rs111033283 cosmic curated [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2, [Cosmic]: lung pubmed:9382091 cosmic_study:417 11q13.5 11 77156909G> A null G R 214 214 missense 0.623 possibly damaging 0.0 deleterious 1 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa NCI-TCGA,TOPMed,dbSNP,gnomAD rs111033283 cosmic curated [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2, [Cosmic]: lung pubmed:9382091 cosmic_study:417 11q13.5 11 77156909G> A null G R 214 214 missense 0.623 possibly damaging 0.0 deleterious 1 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000515404,ClinVar:RCV001003080 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201539845 [ClinVar]: Rare genetic deafness, [Ensembl]: Deafness, autosomal dominant 11 (dfna11), [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Deafness, autosomal dominant 11 pubmed:21150918 11q13.5 11 77156921G> A null D N 218 218 missense 0.974 probably damaging 0.01 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000022815 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201539845 [ClinVar]: Rare genetic deafness, [Ensembl]: Deafness, autosomal dominant 11 (dfna11), [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Deafness, autosomal dominant 11 pubmed:21150918 11q13.5 11 77156921G> A null D N 218 218 missense 0.974 probably damaging 0.01 deleterious 0 Rare genetic deafness ClinVar:RCV000215956 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1200146134 11q13.5 11 77156925T> A null I N 219 219 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781857167 11q13.5 11 77156927C> T null H Y 220 220 missense 0.963 probably damaging 0.45 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555063018 11q13.5 11 77156934A> T null N I 222 222 missense 0.885 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1249375042 11q13.5 11 77156935C> G null N K 222 222 missense 0.54 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782530164 11q13.5 11 77156938G> T null K N 223 223 missense 0.466 possibly damaging 0.15 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781913730 11q13.5 11 77156940G> T null R L 224 224 missense 0.197 benign 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781913730 11q13.5 11 77156940G> A null R Q 224 224 missense 0.024 benign 0.22 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782792865 11q13.5 11 77156939C> T null R W 224 224 missense 0.859 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1283966831 11q13.5 11 77156943G> C null G A 225 225 missense 0.972 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1283966831 11q13.5 11 77156943G> A null G D 225 225 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1041669979 11q13.5 11 77156942G> A null G S 225 225 missense 0.988 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201753022 [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156945G> A null A T 226 226 5.99E-4 missense 0.959 probably damaging 0.07 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001109572 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201753022 [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156945G> A null A T 226 226 5.99E-4 missense 0.959 probably damaging 0.07 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV001109573 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201753022 [ClinVar]: Usher syndrome type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77156945G> A null A T 226 226 5.99E-4 missense 0.959 probably damaging 0.07 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV001109571 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs775511632 11q13.5 11 77156950C> G null I M 227 227 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782415697 11q13.5 11 77156952A> C null E A 228 228 missense 0.876 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs375182858 11q13.5 11 77156957G> A null A T 230 230 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs797044512 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77156958C> T null A V 230 230 missense 0.994 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000225087 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs797044512 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77156958C> T null A V 230 230 missense 0.994 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000155771 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1412400335 11q13.5 11 77156966G> A null E K 233 233 missense 0.107 benign 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs41298133 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 pubmed:7568224 11q13.5 11 77156969C> T null Q * 234 234 2.0E-4 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000669392 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs41298133 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 pubmed:7568224 11q13.5 11 77156969C> T null Q * 234 234 2.0E-4 stop gained 0 Rare genetic deafness ClinVar:RCV000036246 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs41298133 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 pubmed:7568224 11q13.5 11 77156969C> T null Q * 234 234 2.0E-4 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000669392,ClinVar:RCV001003081 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs41298133 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 pubmed:7568224 11q13.5 11 77156969C> T null Q * 234 234 2.0E-4 stop gained 0 Usher syndrome, type 1B (USH1B) Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. ClinVar:RCV000012622 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555063175 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77156971G> T null Q H 234 234 missense 0.994 probably damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs370897466 11q13.5 11 77156970A> C null Q P 234 234 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782166819 [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322 11q13.5 11 77156990C> T null R C 241 241 missense 0.997 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000666535 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782166819 [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322 11q13.5 11 77156990C> T null R C 241 241 missense 0.997 probably damaging 0.0 deleterious 0 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV000505169 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782166819 [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322 11q13.5 11 77156990C> T null R C 241 241 missense 0.997 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782166819 [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322 11q13.5 11 77156990C> T null R C 241 241 missense 0.997 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000666535 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782166819 11q13.5 11 77156990C> G null R G 241 241 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs111033284 cosmic curated [ClinVar]: Rare genetic deafness, [ClinVar]: Inborn genetic diseases, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary cosmic_study:331 11q13.5 11 77156991G> A null R H 241 241 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000622429 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs111033284 cosmic curated [ClinVar]: Rare genetic deafness, [ClinVar]: Inborn genetic diseases, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [Cosmic]: ovary cosmic_study:331 11q13.5 11 77156991G> A null R H 241 241 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 1 Rare genetic deafness ClinVar:RCV000036247 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1176420499 11q13.5 11 77156996T> C null C R 243 243 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373942326 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q13.5 11 77156999C> T null R C 244 244 missense 0.989 probably damaging 0.01 deleterious 1 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965081 [Ensembl]: Deafness, autosomal recessive 2 (dfnb2) 11q13.5 11 77157000G> A null R H 244 244 missense 0.986 probably damaging 0.23 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965081 [Ensembl]: Deafness, autosomal recessive 2 (dfnb2), [ClinVar]: Deafness, autosomal recessive 2 pubmed:9171832 pubmed:18181211,pubmed:9171832 11q13.5 11 77157000G> C null R P 244 244 missense 0.992 probably damaging 0.01 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000012627 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965081 [Ensembl]: Deafness, autosomal recessive 2 (dfnb2), [ClinVar]: Deafness, autosomal recessive 2 pubmed:9171832 pubmed:18181211,pubmed:9171832 11q13.5 11 77157000G> C null R P 244 244 missense 0.992 probably damaging 0.01 deleterious 0 Deafness, autosomal recessive, 2 (DFNB2) A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. MIM:600060 pubmed:28281779,pubmed:9171832,pubmed:9171833 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555063281 11q13.5 11 77157002C> T null Q * 245 245 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,gnomAD rs781959420 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77157288G> A null E K 249 249 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782112637 11q13.5 11 77157291A> G null R G 250 250 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555063874 11q13.5 11 77157297T> A null Y N 252 252 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1366009175 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: kidney pubmed:23797736,cosmic_study:494 11q13.5 11 77157300C> A null H N 253 253 missense 0.979 probably damaging 0.0 deleterious 1 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs375200566 11q13.5 11 77157301A> G null H R 253 253 2.0E-4 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1366009175 11q13.5 11 77157300C> T null H Y 253 253 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782158455 11q13.5 11 77157303G> A null V M 254 254 missense 0.591 possibly damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782702948 11q13.5 11 77157308C> A null F L 255 255 missense 0.969 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782479673 11q13.5 11 77157313G> T null C F 257 257 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555064015 11q13.5 11 77157318C> A null L M 259 259 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555064033 11q13.5 11 77157321G> T null E * 260 260 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782636303 [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77157322A> C null E A 260 260 missense 0.0 benign 1.0 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000660470 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1171236350 11q13.5 11 77157325G> A null G D 261 261 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555064057 11q13.5 11 77157324G> A null G S 261 261 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782684625 11q13.5 11 77157329G> C null M I 262 262 missense 0.015 benign 0.05 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782183475 11q13.5 11 77157331G> A null S N 263 263 missense 0.0 benign 0.28 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1555064134 11q13.5 11 77157340A> G null Q R 266 266 missense 0.059 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs184866544 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77157346A> G null K R 268 268 5.99E-4 missense 0.0 benign 0.11 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001112307 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs184866544 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77157346A> G null K R 268 268 5.99E-4 missense 0.0 benign 0.11 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV001112308 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs184866544 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77157346A> G null K R 268 268 5.99E-4 missense 0.0 benign 0.11 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV001112309 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782617438 11q13.5 11 77157348A> C null K Q 269 269 missense 0.027 benign 0.57 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555064171 11q13.5 11 77157354G> A null G S 271 271 missense 0.05 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555064182 11q13.5 11 77157361G> A null G D 273 273 missense 0.177 benign 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1203404955 11q13.5 11 77157367C> A null A D 275 275 missense 0.997 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555064199 11q13.5 11 77157366G> A null A T 275 275 missense 0.993 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555064208 11q13.5 11 77157370C> G null S C 276 276 missense 0.063 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555064220 11q13.5 11 77157373A> G null D G 277 277 missense 0.856 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555064228 11q13.5 11 77157375T> C null Y H 278 278 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782145980 11q13.5 11 77157382A> G null Y C 280 280 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1280774223 11q13.5 11 77157392G> A null M I 283 283 missense 0.003 benign 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782088850 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77158277G> T null G C 284 284 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782745630 11q13.5 11 77158278G> A null G D 284 284 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782088850 11q13.5 11 77158277G> A null G S 284 284 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782745630 11q13.5 11 77158278G> T null G V 284 284 missense 1.0 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,TOPMed rs367684040 11q13.5 11 77158280A> G null N D 285 285 missense 0.116 benign 0.24 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs535205981 11q13.5 11 77158302G> A null R Q 292 292 0.001198 missense 0.99 probably damaging 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782505601 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158301C> T null R W 292 292 missense 0.997 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000365761 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782505601 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158301C> T null R W 292 292 missense 0.997 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000326285 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782505601 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158301C> T null R W 292 292 missense 0.997 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000271212 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782431334 11q13.5 11 77158304G> C null V L 293 293 missense 0.0 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782431334 11q13.5 11 77158304G> T null V L 293 293 missense 0.0 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555065608 11q13.5 11 77158309C> G null D E 294 294 missense 0.99 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782496780 11q13.5 11 77158308A> G null D G 294 294 missense 0.995 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555065627 11q13.5 11 77158314A> G null Q R 296 296 missense 0.001 benign 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555065637 11q13.5 11 77158316G> A null E K 297 297 missense 0.54 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782624218 11q13.5 11 77158319T> C null Y H 298 298 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782624218 11q13.5 11 77158319T> A null Y N 298 298 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs372344870 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158322G> A null A T 299 299 missense 0.137 benign 0.05 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000331580 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs372344870 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158322G> A null A T 299 299 missense 0.137 benign 0.05 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000295336 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs372344870 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158322G> A null A T 299 299 missense 0.137 benign 0.05 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000380951 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1404047969 11q13.5 11 77158330C> G null I M 301 301 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs781922871 cosmic curated [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: ovary pubmed:21720365,cosmic_study:331 11q13.5 11 77158331C> T null R C 302 302 missense 0.003 benign 0.08 tolerated 1 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781922871 11q13.5 11 77158331C> G null R G 302 302 missense 0.181 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41298135 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Usher syndrome type 1, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:8900236 pubmed:8900236 11q13.5 11 77158332G> A null R H 302 302 0.001398 missense 0.401 benign 0.01 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000282374 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41298135 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Usher syndrome type 1, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:8900236 pubmed:8900236 11q13.5 11 77158332G> A null R H 302 302 0.001398 missense 0.401 benign 0.01 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000337254 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41298135 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Usher syndrome type 1, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:8900236 pubmed:8900236 11q13.5 11 77158332G> A null R H 302 302 0.001398 missense 0.401 benign 0.01 deleterious 0 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV000758141 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41298135 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Usher syndrome type 1, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:8900236 pubmed:8900236 11q13.5 11 77158332G> A null R H 302 302 0.001398 missense 0.401 benign 0.01 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000386045 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41298135 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Usher syndrome type 1, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:8900236 pubmed:8900236 11q13.5 11 77158332G> A null R H 302 302 0.001398 missense 0.401 benign 0.01 deleterious 0 Usher syndrome, type 1B (USH1B) Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. ClinVar:RCV000012626 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs41298135 11q13.5 11 77158332G> T null R L 302 302 0.001398 missense 0.001 benign 0.05 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs782124327 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77158337G> A null A T 304 304 missense 0.617 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs191294730 11q13.5 11 77158341T> C null M T 305 305 2.0E-4 missense 0.153 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555065783 11q13.5 11 77158340A> G null M V 305 305 missense 0.153 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555065805 11q13.5 11 77158346G> T null V L 307 307 missense 0.243 benign 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs368602443 11q13.5 11 77158353T> C null M T 309 309 missense 0.21 benign 0.36 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1481005739 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77158352A> G null M V 309 309 missense 0.078 benign 0.05 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555065842 11q13.5 11 77158358A> C null T P 311 311 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,dbSNP,gnomAD rs782685774 [ClinVar]: MYO7A-related disorder, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77158367G> A null E K 314 314 missense 0.992 probably damaging 0.0 deleterious 0 MYO7A-related disorder ClinVar:RCV000844973 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs372058548 11q13.5 11 77158368A> T null E V 314 314 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555065866 11q13.5 11 77158380T> C null I T 318 318 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782747153 11q13.5 11 77158383C> T null S L 319 319 missense 0.815 possibly damaging 0.68 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782464855 11q13.5 11 77158382T> C null S P 319 319 missense 0.977 probably damaging 0.2 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782747153 11q13.5 11 77158383C> G null S W 319 319 missense 0.994 probably damaging 0.19 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782529538 11q13.5 11 77158386A> G null K R 320 320 missense 0.015 benign 0.13 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1250301241 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11q13.5 11 77158394G> A null A T 323 323 missense 0.995 probably damaging 0.0 deleterious 1 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs376348438 11q13.5 11 77158397G> T null A S 324 324 2.0E-4 missense 0.001 benign 0.08 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs797044491 [ClinVar]: Rare genetic deafness, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158404T> A null L Q 326 326 missense 0.999 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000675063 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs797044491 [ClinVar]: Rare genetic deafness, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158404T> A null L Q 326 326 missense 0.999 probably damaging 0.0 deleterious 0 MYO7A-Related Disorders ClinVar:RCV000778340 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs797044491 [ClinVar]: Rare genetic deafness, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158404T> A null L Q 326 326 missense 0.999 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000151482 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs797044491 [ClinVar]: Rare genetic deafness, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158404T> A null L Q 326 326 missense 0.999 probably damaging 0.0 deleterious 0 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV001252672 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs797044491 [ClinVar]: Rare genetic deafness, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158404T> A null L Q 326 326 missense 0.999 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000675063 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1281366817 11q13.5 11 77158410T> A null L Q 328 328 missense 0.604 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555065952 11q13.5 11 77158412G> A null G S 329 329 missense 0.719 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782606682 11q13.5 11 77158415A> G null N D 330 330 missense 0.686 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs111033285 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158426T> G null Y * 333 333 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000670120 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs111033285 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158426T> G null Y * 333 333 stop gained 0 Rare genetic deafness ClinVar:RCV000036253 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs111033285 [ClinVar]: Rare genetic deafness, [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77158426T> G null Y * 333 333 stop gained 0 Retinal dystrophy ClinVar:RCV001075598 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555065982 11q13.5 11 77158425A> G null Y C 333 333 missense 0.855 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1565349265 11q13.5 11 77159447C> G null A G 335 335 missense 0.018 benign 0.08 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP rs369997614 [ClinVar]: Retinal dystrophy, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77159449C> T null R C 336 336 0.001597 missense 0.996 probably damaging 0.04 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001109643 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP rs369997614 [ClinVar]: Retinal dystrophy, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77159449C> T null R C 336 336 0.001597 missense 0.996 probably damaging 0.04 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV001109644 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP rs369997614 [ClinVar]: Retinal dystrophy, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77159449C> T null R C 336 336 0.001597 missense 0.996 probably damaging 0.04 deleterious 0 Retinal dystrophy ClinVar:RCV001075256 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP rs369997614 [ClinVar]: Retinal dystrophy, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77159449C> T null R C 336 336 0.001597 missense 0.996 probably damaging 0.04 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV001109642 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45629132 [ClinVar]: Coloboma of optic disc, [ClinVar]: Usher syndrome type 1, [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77159450G> A null R H 336 336 0.001198 missense 0.994 probably damaging 0.15 tolerated 0 Coloboma of optic disc MIM:120430 ClinVar:RCV001197445 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45629132 [ClinVar]: Coloboma of optic disc, [ClinVar]: Usher syndrome type 1, [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77159450G> A null R H 336 336 0.001198 missense 0.994 probably damaging 0.15 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000765013,ClinVar:RCV001109645 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45629132 [ClinVar]: Coloboma of optic disc, [ClinVar]: Usher syndrome type 1, [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77159450G> A null R H 336 336 0.001198 missense 0.994 probably damaging 0.15 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000765013,ClinVar:RCV001109646 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45629132 [ClinVar]: Coloboma of optic disc, [ClinVar]: Usher syndrome type 1, [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77159450G> A null R H 336 336 0.001198 missense 0.994 probably damaging 0.15 tolerated 0 Nonsyndromic hearing loss and deafness Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. ClinVar:RCV000710328 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45629132 [ClinVar]: Coloboma of optic disc, [ClinVar]: Usher syndrome type 1, [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77159450G> A null R H 336 336 0.001198 missense 0.994 probably damaging 0.15 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000765013,ClinVar:RCV001109647 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed rs369997614 11q13.5 11 77159449C> A null R S 336 336 0.001597 missense 0.992 probably damaging 0.42 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781937643 11q13.5 11 77159452A> C null T P 337 337 missense 0.284 benign 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782083969 11q13.5 11 77159462A> G null N S 340 340 missense 0.98 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782765242 11q13.5 11 77159464C> G null L V 341 341 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781859219 11q13.5 11 77159470G> A null A T 343 343 missense 0.015 benign 0.09 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782135206 11q13.5 11 77159471C> T null A V 343 343 missense 0.164 benign 0.11 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1565349460 11q13.5 11 77159474G> A null C Y 344 344 missense 0.994 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,TOPMed,gnomAD rs183443251 11q13.5 11 77159482C> A null L I 347 347 3.99E-4 missense 0.005 benign 0.42 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1172092589 11q13.5 11 77159483T> C null L P 347 347 missense 0.549 possibly damaging 0.5 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782805797 11q13.5 11 77159485T> C null F L 348 348 missense 0.025 benign 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782432573 11q13.5 11 77159489C> G null S C 349 349 missense 0.995 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782432573 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77159489C> A null S Y 349 349 missense 0.994 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000988601 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs376108484 11q13.5 11 77159492C> T null P L 350 350 missense 0.037 benign 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,gnomAD rs782639389 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77159495C> T null S L 351 351 missense 0.165 benign 0.51 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1192538492 11q13.5 11 77159497C> A null L M 352 352 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782536564 11q13.5 11 77159500G> T null A S 353 353 missense 0.012 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782536564 11q13.5 11 77159500G> A null A T 353 353 missense 0.0 benign 0.61 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs557302067 11q13.5 11 77159501C> T null A V 353 353 3.99E-4 missense 0.0 benign 0.2 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs973301416 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77159513C> T null S F 357 357 missense 0.118 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs797033992 11q13.5 11 77159512T> C null S P 357 357 missense 0.136 benign 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs797033992 cosmic curated [Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:414 11q13.5 11 77159512T> A null S T 357 357 missense 0.001 benign 0.15 tolerated 1 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555066928 11q13.5 11 77159518C> A null L I 359 359 missense 0.009 benign 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,gnomAD rs370580262 11q13.5 11 77159521G> A null E K 360 360 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1238854527 11q13.5 11 77160168C> A null N K 362 362 missense 0.037 benign 0.27 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,gnomAD rs551190361 11q13.5 11 77160169C> T null P S 363 363 5.99E-4 missense 0.003 benign 0.76 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,gnomAD rs141296731 11q13.5 11 77160172C> G null P A 364 364 2.0E-4 missense 0.0 benign 0.45 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782441745 11q13.5 11 77160173C> T null P L 364 364 missense 0.007 benign 0.18 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782441745 11q13.5 11 77160173C> A null P Q 364 364 missense 0.0 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs924913478 11q13.5 11 77160176A> C null D A 365 365 missense 0.003 benign 0.87 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs397516281 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160179T> C null L P 366 366 missense 0.628 possibly damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000666645 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs397516281 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160179T> C null L P 366 366 missense 0.628 possibly damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000036037 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs397516281 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160179T> C null L P 366 366 missense 0.628 possibly damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000666645 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1436844898 11q13.5 11 77160183G> C null M I 367 367 missense 0.04 benign 0.23 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555067436 11q13.5 11 77160186C> A null S R 368 368 missense 0.005 benign 0.21 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781912165 11q13.5 11 77160187T> A null C S 369 369 missense 0.889 possibly damaging 0.51 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781968254 11q13.5 11 77160194C> T null T I 371 371 missense 0.283 benign 0.17 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782193578 11q13.5 11 77160193A> C null T P 371 371 missense 0.395 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782193578 11q13.5 11 77160193A> T null T S 371 371 missense 0.007 benign 0.05 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781968254 11q13.5 11 77160194C> G null T S 371 371 missense 0.007 benign 0.05 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782114301 11q13.5 11 77160197G> A null S N 372 372 missense 0.003 benign 0.45 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC rs536868147 11q13.5 11 77160198C> A null S R 372 372 2.0E-4 missense 0.12 benign 0.57 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs868979094 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160199C> T null R C 373 373 missense 0.799 possibly damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000454150,ClinVar:RCV000675097 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs868979094 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160199C> T null R C 373 373 missense 0.799 possibly damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000675097 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs201491278 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11q13.5 11 77160200G> A null R H 373 373 missense 0.011 benign 0.61 tolerated 1 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555067470 11q13.5 11 77160203C> T null T I 374 374 missense 0.899 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782728522 11q13.5 11 77160205C> T null L F 375 375 missense 0.262 benign 0.23 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782728522 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160205C> G null L V 375 375 missense 0.019 benign 0.06 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000669568 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782728522 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160205C> G null L V 375 375 missense 0.019 benign 0.06 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000669568 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781880467 11q13.5 11 77160209T> C null I T 376 376 missense 0.795 possibly damaging 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs368716988 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160208A> G null I V 376 376 missense 0.698 possibly damaging 0.12 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001111942 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs368716988 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160208A> G null I V 376 376 missense 0.698 possibly damaging 0.12 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV001111944 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs368716988 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160208A> G null I V 376 376 missense 0.698 possibly damaging 0.12 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV001111943 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs199818783 [ClinVar]: Retinal dystrophy, [ClinVar]: Neurodevelopmental disorder, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160214C> T null R C 378 378 missense 0.984 probably damaging 0.01 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001111946 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs199818783 [ClinVar]: Retinal dystrophy, [ClinVar]: Neurodevelopmental disorder, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160214C> T null R C 378 378 missense 0.984 probably damaging 0.01 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000665432,ClinVar:RCV001111945 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs199818783 [ClinVar]: Retinal dystrophy, [ClinVar]: Neurodevelopmental disorder, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160214C> T null R C 378 378 missense 0.984 probably damaging 0.01 deleterious 0 Neurodevelopmental disorder ClinVar:RCV001199110 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs199818783 [ClinVar]: Retinal dystrophy, [ClinVar]: Neurodevelopmental disorder, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160214C> T null R C 378 378 missense 0.984 probably damaging 0.01 deleterious 0 Retinal dystrophy ClinVar:RCV001075067 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs199818783 [ClinVar]: Retinal dystrophy, [ClinVar]: Neurodevelopmental disorder, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160214C> T null R C 378 378 missense 0.984 probably damaging 0.01 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000665432,ClinVar:RCV001111947 A0A087WT71 MYO7A Unconventional myosin-VIIa NCI-TCGA,TOPMed,dbSNP,gnomAD rs397516282 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160215G> A null R H 378 378 missense 0.984 probably damaging 0.19 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000668099 A0A087WT71 MYO7A Unconventional myosin-VIIa NCI-TCGA,TOPMed,dbSNP,gnomAD rs397516282 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160215G> A null R H 378 378 missense 0.984 probably damaging 0.19 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000668099 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs397516282 11q13.5 11 77160215G> T null R L 378 378 missense 0.937 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs397516282 11q13.5 11 77160215G> C null R P 378 378 missense 0.982 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs878853377 [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160217G> A null G R 379 379 missense 0.989 probably damaging 0.2 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000674985 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs878853377 [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160217G> A null G R 379 379 missense 0.989 probably damaging 0.2 tolerated 0 Retinal dystrophy ClinVar:RCV000225628 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs878853377 [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160217G> A null G R 379 379 missense 0.989 probably damaging 0.2 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000674985 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs868980744 11q13.5 11 77160218G> T null G V 379 379 missense 0.974 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs876657913 11q13.5 11 77160220G> A null E K 380 380 missense 0.987 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782681743 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160224C> T null T M 381 381 missense 0.653 possibly damaging 0.25 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001112401 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782681743 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160224C> T null T M 381 381 missense 0.653 possibly damaging 0.25 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000667999,ClinVar:RCV001111948 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782681743 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160224C> T null T M 381 381 missense 0.653 possibly damaging 0.25 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000667999,ClinVar:RCV001111949 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1353864858 11q13.5 11 77160227T> C null V A 382 382 missense 0.827 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782440130 11q13.5 11 77160226G> T null V L 382 382 missense 0.827 possibly damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782440130 11q13.5 11 77160226G> A null V M 382 382 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555067555 11q13.5 11 77160232A> G null T A 384 384 missense 0.055 benign 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555067573 11q13.5 11 77160242G> A null S N 387 387 missense 0.914 probably damaging 0.74 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555067582 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11q13.5 11 77160245G> A null R K 388 388 missense 0.0 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555067582 11q13.5 11 77160245G> T null R M 388 388 missense 0.0 benign 0.23 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782227657 11q13.5 11 77160247G> A null E K 389 389 missense 0.085 benign 0.35 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555067598 [ClinVar]: Usher syndrome type 1 11q13.5 11 77160250C> T null Q * 390 390 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV001004379 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555067598 11q13.5 11 77160250C> G null Q E 390 390 missense 0.968 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs1555067608 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160254C> T null A V 391 391 missense 0.756 possibly damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000673509 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs1555067608 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160254C> T null A V 391 391 missense 0.756 possibly damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000673509 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1226538179 11q13.5 11 77160257T> C null L P 392 392 missense 0.668 possibly damaging 0.14 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1226538179 11q13.5 11 77160257T> G null L R 392 392 missense 0.494 possibly damaging 0.15 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782372575 11q13.5 11 77160260A> G null D G 393 393 missense 0.941 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555067624 11q13.5 11 77160259G> A null D N 393 393 missense 0.391 benign 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555067632 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77160262G> A null V M 394 394 missense 0.814 possibly damaging 0.23 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782279338 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160265C> T null R C 395 395 missense 0.997 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000670895 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782279338 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160265C> T null R C 395 395 missense 0.997 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000670895 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782279338 11q13.5 11 77160265C> G null R G 395 395 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs387906700 [Ensembl]: Deafness, autosomal recessive 2 (dfnb2), [ClinVar]: Deafness, autosomal recessive 2 pubmed:20132242 11q13.5 11 77160266G> A null R H 395 395 missense 0.996 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000022817 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs375867186 11q13.5 11 77160268G> C null D H 396 396 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs375867186 11q13.5 11 77160268G> A null D N 396 396 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555067667 [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 pubmed:12112664,pubmed:9382091 11q13.5 11 77160272C> A null A D 397 397 missense 0.998 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000668651 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555067667 [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 pubmed:12112664,pubmed:9382091 11q13.5 11 77160272C> A null A D 397 397 missense 0.998 probably damaging 0.0 deleterious 0 Retinal dystrophy ClinVar:RCV001075552 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555067667 [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 pubmed:12112664,pubmed:9382091 11q13.5 11 77160272C> A null A D 397 397 missense 0.998 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555067667 [ClinVar]: Retinal dystrophy, [ClinVar]: Deafness, autosomal recessive 2 pubmed:12112664,pubmed:9382091 11q13.5 11 77160272C> A null A D 397 397 missense 0.998 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000668651 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs1297886521 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160271G> A null A T 397 397 missense 0.996 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000669802 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs1297886521 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160271G> A null A T 397 397 missense 0.996 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000669802 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1347045882 11q13.5 11 77160276C> A null F L 398 398 missense 0.255 benign 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs1162724549 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q13.5 11 77160277G> A null V I 399 399 missense 0.917 probably damaging 0.06 tolerated 1 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555067684 11q13.5 11 77160282G> T null K N 400 400 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1412999612 11q13.5 11 77160976A> C null I L 402 402 missense 0.743 possibly damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs782200577 11q13.5 11 77160977T> C null I T 402 402 missense 0.948 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1412999612 11q13.5 11 77160976A> G null I V 402 402 missense 0.743 possibly damaging 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs797044511 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160980A> G null Y C 403 403 missense 0.995 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000675112 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs797044511 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160980A> G null Y C 403 403 missense 0.995 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000155424 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs797044511 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160980A> G null Y C 403 403 missense 0.995 probably damaging 0.0 deleterious 0 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV001089675 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs797044511 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77160980A> G null Y C 403 403 missense 0.995 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000675112 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs797044511 11q13.5 11 77160980A> T null Y F 403 403 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs973746837 11q13.5 11 77160983G> A null G E 404 404 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782022331 11q13.5 11 77160982G> A null G R 404 404 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs200844919 11q13.5 11 77160986G> A null R Q 405 405 9.98E-4 missense 0.964 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs375745526 11q13.5 11 77160985C> T null R W 405 405 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781990601 11q13.5 11 77160992T> A null F Y 407 407 missense 0.943 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782797465 11q13.5 11 77160994G> C null V L 408 408 missense 0.959 probably damaging 0.79 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782797465 11q13.5 11 77160994G> A null V M 408 408 missense 0.991 probably damaging 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555068269 11q13.5 11 77160997T> G null W G 409 409 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555068278 11q13.5 11 77161000A> C null I L 410 410 missense 0.743 possibly damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs369916141 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77161004T> C null V A 411 411 missense 0.954 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000665699 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs369916141 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77161004T> C null V A 411 411 missense 0.954 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000665699 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782441101 11q13.5 11 77161007A> C null D A 412 412 missense 0.121 benign 0.11 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1185932120 11q13.5 11 77161010A> G null K R 413 413 missense 0.969 probably damaging 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781837338 11q13.5 11 77161016A> G null N S 415 415 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs373894293 11q13.5 11 77161018G> C null A P 416 416 missense 0.513 possibly damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs373894293 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q13.5 11 77161018G> A null A T 416 416 missense 0.089 benign 0.17 tolerated 1 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782638002 11q13.5 11 77161021G> A null A T 417 417 missense 0.987 probably damaging 0.08 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555068366 11q13.5 11 77161024A> G null I V 418 418 missense 0.743 possibly damaging 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782539587 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77161030A> T null K * 420 420 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000770845 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782539587 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77161030A> T null K * 420 420 stop gained 0 Rare genetic deafness ClinVar:RCV000601432 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782539587 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77161030A> T null K * 420 420 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV001003083 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782694719 11q13.5 11 77161036C> T null P S 422 422 missense 0.015 benign 0.12 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs201839693 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77161060C> T null R C 430 430 missense 0.855 possibly damaging 0.02 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000405741 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs201839693 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77161060C> T null R C 430 430 missense 0.855 possibly damaging 0.02 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000303792 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs201839693 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77161060C> T null R C 430 430 missense 0.855 possibly damaging 0.02 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000358625 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,gnomAD rs782246569 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:22810696,cosmic_study:376 11q13.5 11 77161061G> A null R H 430 430 missense 0.855 possibly damaging 0.09 tolerated 1 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782246569 11q13.5 11 77161061G> T null R L 430 430 missense 0.015 benign 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs970837657 11q13.5 11 77161063A> G null R G 431 431 missense 0.985 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555068421 11q13.5 11 77161067C> T null S F 432 432 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782018580 11q13.5 11 77161069A> G null I V 433 433 missense 0.074 benign 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1281186014 11q13.5 11 77161073G> A null G D 434 434 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs145544778 11q13.5 11 77161072G> C null G R 434 434 3.99E-4 missense 1.0 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs145544778 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11q13.5 11 77161072G> A null G S 434 434 3.99E-4 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782100627 11q13.5 11 77161078C> A null L M 436 436 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1313779857 11q13.5 11 77161093T> C null F L 441 441 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1416789952 11q13.5 11 77161098G> C null E D 442 442 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs267603200 11q13.5 11 77161096G> A null E K 442 442 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782525835 11q13.5 11 77161109T> C null V A 446 446 missense 0.164 benign 0.64 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782525835 11q13.5 11 77161109T> G null V G 446 446 missense 0.571 possibly damaging 0.33 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782816627 11q13.5 11 77161113C> G null N K 447 447 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555068479 11q13.5 11 77161112A> G null N S 447 447 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs1269622956 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal recessive 2 pubmed:8900236 cosmic_study:413 11q13.5 11 77162124G> C null E Q 450 450 missense 0.422 benign 0.01 deleterious 1 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000670043 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs1269622956 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal recessive 2 pubmed:8900236 cosmic_study:413 11q13.5 11 77162124G> C null E Q 450 450 missense 0.422 benign 0.01 deleterious 1 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs1269622956 cosmic curated [Cosmic]: urinary_tract, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal recessive 2 pubmed:8900236 cosmic_study:413 11q13.5 11 77162124G> C null E Q 450 450 missense 0.422 benign 0.01 deleterious 1 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000670043 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs1555069238 [ClinVar]: Usher syndrome type 1 11q13.5 11 77162125A> T null E V 450 450 missense 0.961 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000505567 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069251 11q13.5 11 77162130C> A null L I 452 452 missense 0.915 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069264 11q13.5 11 77162133T> C null C R 453 453 missense 0.967 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs202080237 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162134G> A null C Y 453 453 missense 0.985 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000329699 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs202080237 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162134G> A null C Y 453 453 missense 0.985 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000374942 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs202080237 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162134G> A null C Y 453 453 missense 0.985 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000274537 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs559209306 11q13.5 11 77162144C> A null F L 456 456 2.0E-4 missense 0.009 benign 0.19 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,gnomAD rs782255256 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11q13.5 11 77162145G> A null A T 457 457 missense 0.555 possibly damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs111033286 [ClinVar]: Rare genetic deafness pubmed:10930322 11q13.5 11 77162146C> T null A V 457 457 missense 0.041 benign 0.01 deleterious 0 Rare genetic deafness ClinVar:RCV000036048 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs111033286 [ClinVar]: Rare genetic deafness pubmed:10930322 11q13.5 11 77162146C> T null A V 457 457 missense 0.041 benign 0.01 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs121965084 [Ensembl]: Deafness, autosomal dominant 11 (dfna11), [ClinVar]: Deafness, autosomal dominant 11 pubmed:15221449 pubmed:15221449 11q13.5 11 77162149A> T null N I 458 458 missense 0.974 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000012638 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs121965084 [Ensembl]: Deafness, autosomal dominant 11 (dfna11), [ClinVar]: Deafness, autosomal dominant 11 pubmed:15221449 pubmed:15221449 11q13.5 11 77162149A> T null N I 458 458 missense 0.974 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant, 11 (DFNA11) A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression. MIM:601317 pubmed:15121790,pubmed:15221449,pubmed:15300860,pubmed:9354784 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782293740 11q13.5 11 77162150T> G null N K 458 458 missense 0.937 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782293740 11q13.5 11 77162150T> A null N K 458 458 missense 0.937 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs121965084 [Ensembl]: Deafness, autosomal dominant 11 (dfna11) 11q13.5 11 77162149A> G null N S 458 458 missense 0.875 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1395594695 11q13.5 11 77162152A> G null E G 459 459 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069315 11q13.5 11 77162151G> A null E K 459 459 missense 0.991 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069330 cosmic curated [Cosmic]: large_intestine pubmed:22895193,cosmic_study:452 11q13.5 11 77162154C> T null H Y 460 460 missense 0.187 benign 0.02 deleterious 1 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782309275 11q13.5 11 77162160C> A null Q K 462 462 missense 0.731 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069337 11q13.5 11 77162161A> C null Q P 462 462 missense 0.951 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs376061637 11q13.5 11 77162176G> A null R Q 467 467 missense 0.199 benign 0.78 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782073796 11q13.5 11 77162175C> T null R W 467 467 missense 0.005 benign 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782141665 11q13.5 11 77162180C> A null H Q 468 468 missense 0.619 possibly damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs200304238 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162179A> G null H R 468 468 missense 0.013 benign 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000668764 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs200304238 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162179A> G null H R 468 468 missense 0.013 benign 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000668764 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs367582237 11q13.5 11 77162181G> A null V M 469 469 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069377 11q13.5 11 77162185T> G null F C 470 470 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1052031 11q13.5 11 77162186C> G null F L 470 470 missense 0.979 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782054837 11q13.5 11 77162190C> A null L M 472 472 missense 0.543 possibly damaging 0.35 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1040328200 11q13.5 11 77162208G> A null D N 478 478 missense 0.0 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1040328200 11q13.5 11 77162208G> T null D Y 478 478 missense 0.163 benign 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069419 11q13.5 11 77162212T> G null L R 479 479 missense 0.079 benign 0.56 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs900521577 11q13.5 11 77162215A> G null E G 480 480 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069431 11q13.5 11 77162218G> T null S I 481 481 missense 0.021 benign 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782494913 11q13.5 11 77162219C> A null S R 481 481 missense 0.014 benign 0.13 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782657401 11q13.5 11 77162220A> C null I L 482 482 missense 0.949 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782657401 11q13.5 11 77162220A> G null I V 482 482 missense 0.949 probably damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781884347 11q13.5 11 77162225C> G null D E 483 483 missense 0.022 benign 0.85 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1306034248 11q13.5 11 77162223G> T null D Y 483 483 missense 0.318 benign 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1301904466 11q13.5 11 77162235A> C null I L 487 487 missense 0.949 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782195221 11q13.5 11 77162237C> G null I M 487 487 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1301904466 11q13.5 11 77162235A> G null I V 487 487 missense 0.949 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1295602405 11q13.5 11 77162239A> G null E G 488 488 missense 0.691 possibly damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782602158 11q13.5 11 77162238G> A null E K 488 488 missense 0.63 possibly damaging 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069485 11q13.5 11 77162253C> G null Q E 493 493 missense 0.291 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069501 11q13.5 11 77162256G> A null D N 494 494 missense 0.109 benign 0.2 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069508 11q13.5 11 77162260C> T null A V 495 495 missense 0.356 benign 0.35 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1352440731 11q13.5 11 77162265G> A null D N 497 497 missense 0.96 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs782044710 11q13.5 11 77162268A> T null M L 498 498 missense 0.009 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs397516286 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162272T> C null I T 499 499 missense 0.889 possibly damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000669217 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs397516286 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162272T> C null I T 499 499 missense 0.889 possibly damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000669217 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069530 11q13.5 11 77162271A> G null I V 499 499 missense 0.355 benign 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1429900952 11q13.5 11 77162280A> G null K E 502 502 missense 0.254 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,gnomAD rs181126043 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77162282G> T null K N 502 502 3.99E-4 missense 0.526 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1391408138 11q13.5 11 77162281A> G null K R 502 502 missense 0.01 benign 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes rs574477065 11q13.5 11 77162283C> T null P S 503 503 2.0E-4 missense 0.998 probably damaging 0.08 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs746423219 11q13.5 11 77162306C> G null I M 510 510 missense 0.343 benign 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555069582 11q13.5 11 77162304A> G null I V 510 510 missense 0.448 possibly damaging 0.18 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1479535217 11q13.5 11 77162316A> G null S G 514 514 missense 0.848 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1232585465 11q13.5 11 77162317G> C null S T 514 514 missense 0.848 possibly damaging 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782313585 11q13.5 11 77162321G> T null K N 515 515 missense 0.647 possibly damaging 0.19 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782023308 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162319A> C null K Q 515 515 missense 0.564 possibly damaging 0.03 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001110523 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782023308 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162319A> C null K Q 515 515 missense 0.564 possibly damaging 0.03 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000664469,ClinVar:RCV001110522 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782023308 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162319A> C null K Q 515 515 missense 0.564 possibly damaging 0.03 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000664469,ClinVar:RCV001110524 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,gnomAD rs540373204 11q13.5 11 77162320A> G null K R 515 515 2.0E-4 missense 0.015 benign 0.74 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1344410144 11q13.5 11 77162322T> C null F L 516 516 missense 0.969 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs111033206 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322,pubmed:16679490 11q13.5 11 77162854G> A null G D 519 519 missense 0.992 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000669343 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs111033206 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322,pubmed:16679490 11q13.5 11 77162854G> A null G D 519 519 missense 0.992 probably damaging 0.0 deleterious 0 Rare genetic deafness ClinVar:RCV000844714 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs111033206 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322,pubmed:16679490 11q13.5 11 77162854G> A null G D 519 519 missense 0.992 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs111033206 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 pubmed:10930322,pubmed:16679490 11q13.5 11 77162854G> A null G D 519 519 missense 0.992 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000036055,ClinVar:RCV000669343 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782402745 11q13.5 11 77162861C> G null D E 521 521 missense 0.593 possibly damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782258583 11q13.5 11 77162860A> G null D G 521 521 missense 0.024 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555070054 11q13.5 11 77162869T> C null M T 524 524 missense 0.801 possibly damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1362357242 11q13.5 11 77162868A> G null M V 524 524 missense 0.618 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs797044492 [ClinVar]: Usher syndrome 11q13.5 11 77162881T> G null L R 528 528 missense 0.203 benign 0.0 deleterious 0 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV000151486 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs781951909 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162889C> T null Q * 531 531 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000668486 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs781951909 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162889C> T null Q * 531 531 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000668486 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555070102 11q13.5 11 77162892C> T null H Y 532 532 missense 0.889 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1011759305 11q13.5 11 77162895A> G null K E 533 533 missense 0.053 benign 0.13 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs375350389 11q13.5 11 77162898C> G null L V 534 534 missense 0.006 benign 0.22 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555070114 11q13.5 11 77162902A> T null N I 535 535 missense 0.974 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs111033228 11q13.5 11 77162903C> A null N K 535 535 5.99E-4 missense 0.952 probably damaging 0.13 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201046979 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11q13.5 11 77162904G> A null A T 536 536 missense 0.0 benign 0.3 tolerated 1 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782806743 11q13.5 11 77162909C> A null N K 537 537 missense 0.154 benign 0.31 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP rs375076507 11q13.5 11 77162908A> G null N S 537 537 missense 0.107 benign 0.42 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1277502960 11q13.5 11 77162910T> C null Y H 538 538 missense 0.301 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781794387 11q13.5 11 77162913A> T null I F 539 539 missense 0.407 benign 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782450807 11q13.5 11 77162915C> G null I M 539 539 missense 0.508 possibly damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782607566 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162917C> A null P H 540 540 missense 0.999 probably damaging 0.01 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000394833 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782607566 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162917C> A null P H 540 540 missense 0.999 probably damaging 0.01 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000344299,ClinVar:RCV000675049 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782607566 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77162917C> A null P H 540 540 missense 0.999 probably damaging 0.01 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000308007,ClinVar:RCV000675049 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782607566 11q13.5 11 77162917C> G null P R 540 540 missense 0.998 probably damaging 0.08 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781843594 11q13.5 11 77162919C> G null P A 541 541 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369301423 11q13.5 11 77162920C> A null P H 541 541 2.0E-4 missense 0.999 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369301423 11q13.5 11 77162920C> T null P L 541 541 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs369301423 11q13.5 11 77162920C> G null P R 541 541 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781843594 11q13.5 11 77162919C> T null P S 541 541 missense 0.998 probably damaging 0.12 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781843594 11q13.5 11 77162919C> A null P T 541 541 missense 0.998 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782355956 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q13.5 11 77162924G> C null K N 542 542 missense 0.526 possibly damaging 0.0 deleterious 1 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555070184 11q13.5 11 77162923A> G null K R 542 542 missense 0.01 benign 0.14 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555070198 11q13.5 11 77162930C> A null N K 544 544 missense 0.015 benign 0.92 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs975183391 11q13.5 11 77162928A> T null N Y 544 544 missense 0.124 benign 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781981689 11q13.5 11 77162932A> G null H R 545 545 missense 0.022 benign 0.08 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782413969 11q13.5 11 77162935A> T null E V 546 546 missense 0.731 possibly damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555070219 11q13.5 11 77162947G> T null G V 550 550 missense 0.982 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs1131691833 11q13.5 11 77162950T> C null I T 551 551 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782043663 11q13.5 11 77162953A> G null N S 552 552 missense 0.036 benign 0.65 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782043663 11q13.5 11 77162953A> C null N T 552 552 missense 0.08 benign 0.52 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782052073 11q13.5 11 77162955C> T null H Y 553 553 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs370331045 11q13.5 11 77162964G> A null G S 556 556 2.0E-4 missense 0.191 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs527236085 [ClinVar]: Retinitis pigmentosa 11q13.5 11 77162965G> T null G V 556 556 missense 0.925 probably damaging 0.0 deleterious 0 Retinitis pigmentosa (RP) MIM:268000,MIM:PS268000 pubmed:20301590,pubmed:22234150,pubmed:26666451,ClinVar:RCV000132570 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1282033456 11q13.5 11 77162967A> G null I V 557 557 missense 0.0 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs985294590 11q13.5 11 77162971T> C null V A 558 558 missense 0.006 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782101820 11q13.5 11 77162970G> A null V I 558 558 missense 0.124 benign 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555070286 11q13.5 11 77162975C> A null Y * 559 559 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1270268715 11q13.5 11 77162973T> G null Y D 559 559 missense 0.288 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1231614464 11q13.5 11 77162976T> C null Y H 560 560 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs868980993 11q13.5 11 77162980A> G null E G 561 561 missense 0.957 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs369553876 11q13.5 11 77162979G> A null E K 561 561 missense 0.876 possibly damaging 0.13 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781832468 11q13.5 11 77166058T> G null F V 565 565 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782509064 11q13.5 11 77166074G> A null R Q 570 570 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1555072329 11q13.5 11 77166080C> T null T I 572 572 missense 0.663 possibly damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1490349951 11q13.5 11 77166083T> C null L P 573 573 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs397516287 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77166086A> C null H P 574 574 missense 0.013 benign 0.01 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000673827 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs397516287 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77166086A> C null H P 574 574 missense 0.013 benign 0.01 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000673827 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782559447 11q13.5 11 77166089G> A null G E 575 575 missense 0.173 benign 0.5 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs782154632 11q13.5 11 77166088G> A null G R 575 575 missense 0.483 possibly damaging 0.47 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs187165412 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77166091G> A null D N 576 576 3.99E-4 missense 0.995 probably damaging 0.06 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000666745 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs187165412 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77166091G> A null D N 576 576 3.99E-4 missense 0.995 probably damaging 0.06 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000666745 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782204980 11q13.5 11 77166096T> G null I M 577 577 missense 0.914 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782478153 11q13.5 11 77166100C> T null Q * 579 579 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555072364 11q13.5 11 77166102G> C null Q H 579 579 missense 0.003 benign 0.18 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1051388165 11q13.5 11 77166101A> G null Q R 579 579 missense 0.124 benign 0.09 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555072367 11q13.5 11 77166110A> C null H P 582 582 missense 0.951 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782627416 11q13.5 11 77166112T> C null S P 583 583 missense 0.961 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782395461 11q13.5 11 77166123C> A null N K 586 586 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782244537 11q13.5 11 77166122A> G null N S 586 586 missense 0.987 probably damaging 0.12 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,gnomAD rs546566964 11q13.5 11 77166126G> C null K N 587 587 2.0E-4 missense 0.973 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782182006 11q13.5 11 77166130A> C null I L 589 589 missense 0.017 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782182006 11q13.5 11 77166130A> G null I V 589 589 missense 0.005 benign 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781946898 11q13.5 11 77166141C> G null I M 592 592 missense 0.967 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs371382279 11q13.5 11 77166140T> C null I T 592 592 missense 0.922 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1565368286 11q13.5 11 77166142T> C null F L 593 593 missense 0.979 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555072386 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 11q13.5 11 77166145C> T null Q * 594 594 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555072391 11q13.5 11 77166146A> T null Q L 594 594 missense 0.895 possibly damaging 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781994471 11q13.5 11 77166153T> G null D E 596 596 missense 0.99 probably damaging 0.9 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782749694 11q13.5 11 77166151G> A null D N 596 596 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs566111152 11q13.5 11 77166157G> T null A S 598 598 2.0E-4 missense 0.997 probably damaging 0.8 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs566111152 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:419 11q13.5 11 77166157G> A null A T 598 598 2.0E-4 missense 0.996 probably damaging 0.41 tolerated 1 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs121965082 [ClinVar]: Usher syndrome, type 1B, [Ensembl]: Deafness, autosomal recessive 2 (dfnb2), [ClinVar]: Deafness, autosomal recessive 2 pubmed:9171833 pubmed:11391666,pubmed:7951250,pubmed:9171833 11q13.5 11 77166162G> A null M I 599 599 missense 0.946 probably damaging 0.12 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000012630 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs121965082 [ClinVar]: Usher syndrome, type 1B, [Ensembl]: Deafness, autosomal recessive 2 (dfnb2), [ClinVar]: Deafness, autosomal recessive 2 pubmed:9171833 pubmed:11391666,pubmed:7951250,pubmed:9171833 11q13.5 11 77166162G> A null M I 599 599 missense 0.946 probably damaging 0.12 tolerated 0 Deafness, autosomal recessive, 2 (DFNB2) A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. MIM:600060 pubmed:28281779,pubmed:9171832,pubmed:9171833 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs121965082 [ClinVar]: Usher syndrome, type 1B, [Ensembl]: Deafness, autosomal recessive 2 (dfnb2), [ClinVar]: Deafness, autosomal recessive 2 pubmed:9171833 pubmed:11391666,pubmed:7951250,pubmed:9171833 11q13.5 11 77166162G> A null M I 599 599 missense 0.946 probably damaging 0.12 tolerated 0 Usher syndrome, type 1B (USH1B) Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. ClinVar:RCV000012631 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1007494594 11q13.5 11 77166161T> G null M R 599 599 missense 0.974 probably damaging 0.09 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1007494594 11q13.5 11 77166161T> C null M T 599 599 missense 0.946 probably damaging 0.27 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1352497356 11q13.5 11 77166160A> G null M V 599 599 missense 0.915 probably damaging 0.17 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782481491 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172751G> A null A T 601 601 missense 0.09 benign 0.31 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000354619 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782481491 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172751G> A null A T 601 601 missense 0.09 benign 0.31 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000299486 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782481491 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172751G> A null A T 601 601 missense 0.09 benign 0.31 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000259771 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782608378 11q13.5 11 77172752C> T null A V 601 601 missense 0.003 benign 0.15 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,TOPMed,dbSNP,gnomAD rs2276282 11q13.5 11 77172754G> A null E K 602 602 missense 0.988 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555076975 11q13.5 11 77172757A> G null T A 603 603 missense 0.98 probably damaging 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555076978 11q13.5 11 77172760A> G null R G 604 604 missense 0.985 probably damaging 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782665276 11q13.5 11 77172763A> G null K E 605 605 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs968552859 11q13.5 11 77172764A> G null K R 605 605 missense 0.987 probably damaging 0.17 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs567139897 11q13.5 11 77172766C> T null R C 606 606 2.0E-4 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782311929 [ClinVar]: Usher syndrome type 1, [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172767G> A null R H 606 606 missense 0.994 probably damaging 0.02 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001110610 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782311929 [ClinVar]: Usher syndrome type 1, [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172767G> A null R H 606 606 missense 0.994 probably damaging 0.02 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV001110608 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782311929 [ClinVar]: Usher syndrome type 1, [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172767G> A null R H 606 606 missense 0.994 probably damaging 0.02 deleterious 0 Nonsyndromic hearing loss and deafness Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. ClinVar:RCV000710344 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782311929 [ClinVar]: Usher syndrome type 1, [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172767G> A null R H 606 606 missense 0.994 probably damaging 0.02 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV001110609 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782311929 11q13.5 11 77172767G> T null R L 606 606 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782311929 11q13.5 11 77172767G> C null R P 606 606 missense 0.997 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782598897 11q13.5 11 77172770C> A null S * 607 607 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782598897 11q13.5 11 77172770C> T null S L 607 607 missense 0.986 probably damaging 0.64 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077027 11q13.5 11 77172773C> T null P L 608 608 missense 0.998 probably damaging 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782369998 11q13.5 11 77172772C> A null P T 608 608 missense 0.998 probably damaging 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077033 11q13.5 11 77172775A> G null T A 609 609 missense 0.98 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077039 11q13.5 11 77172778C> G null L V 610 610 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs376209372 11q13.5 11 77172782G> A null S N 611 611 missense 0.979 probably damaging 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077054 11q13.5 11 77172785G> C null S T 612 612 missense 0.215 benign 0.15 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1223770704 11q13.5 11 77172787C> T null Q * 613 613 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1346633937 11q13.5 11 77172790T> G null F V 614 614 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1277380069 11q13.5 11 77172794A> T null K M 615 615 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1277380069 11q13.5 11 77172794A> G null K R 615 615 missense 0.987 probably damaging 0.36 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,gnomAD rs782410686 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77172797G> A null R Q 616 616 missense 0.986 probably damaging 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs369195493 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172796C> T null R W 616 616 missense 0.996 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000665882 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs369195493 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172796C> T null R W 616 616 missense 0.996 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000665882 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782063761 [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172799T> C null S P 617 617 missense 0.991 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000670176,ClinVar:RCV000681537 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782063761 [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172799T> C null S P 617 617 missense 0.991 probably damaging 0.0 deleterious 0 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV000504967 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782063761 [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172799T> C null S P 617 617 missense 0.991 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000670176 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1450279958 11q13.5 11 77172802C> G null L V 618 618 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1176831066 11q13.5 11 77172805G> A null E K 619 619 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781838238 11q13.5 11 77172814A> T null M L 622 622 missense 0.743 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782109507 11q13.5 11 77172815T> C null M T 622 622 missense 0.922 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142989331 11q13.5 11 77172817C> T null R C 623 623 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs111033416 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172818G> A null R H 623 623 9.98E-4 missense 0.994 probably damaging 0.01 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000664583 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs111033416 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172818G> A null R H 623 623 9.98E-4 missense 0.994 probably damaging 0.01 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000664583 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs111033416 11q13.5 11 77172818G> T null R L 623 623 9.98E-4 missense 0.992 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs142989331 11q13.5 11 77172817C> A null R S 623 623 missense 0.992 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs953533173 11q13.5 11 77172821C> A null T K 624 624 missense 0.997 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs953533173 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11q13.5 11 77172821C> T null T M 624 624 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs953533173 11q13.5 11 77172821C> G null T R 624 624 missense 0.998 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1382176978 11q13.5 11 77172820A> T null T S 624 624 missense 0.98 probably damaging 0.09 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077201 11q13.5 11 77172824T> C null L P 625 625 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077213 11q13.5 11 77172827G> A null G D 626 626 missense 0.109 benign 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077208 11q13.5 11 77172826G> A null G S 626 626 missense 0.003 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs121965083 [ClinVar]: Usher syndrome, type 1B pubmed:9843659 11q13.5 11 77172834C> A null C * 628 628 stop gained 0 Usher syndrome, type 1B (USH1B) Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. ClinVar:RCV000012633 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077227 11q13.5 11 77172833G> A null C Y 628 628 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782785036 11q13.5 11 77172845T> G null F C 632 632 missense 0.995 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1445616273 11q13.5 11 77172844T> C null F L 632 632 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077251 11q13.5 11 77172847G> A null V M 633 633 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033180 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77172850C> T null R * 634 634 stop gained 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000763275 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033180 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77172850C> T null R * 634 634 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000763275 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033180 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77172850C> T null R * 634 634 stop gained 0 Rare genetic deafness ClinVar:RCV000844715 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033180 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77172850C> T null R * 634 634 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000036068,ClinVar:RCV000763275 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs781812509 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77172851G> A null R Q 634 634 missense 0.325 benign 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000988604 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs797044514 11q13.5 11 77172853T> C null C R 635 635 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1310744956 11q13.5 11 77172854G> A null C Y 635 635 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs374417405 11q13.5 11 77172856A> C null I L 636 636 missense 0.927 probably damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs374417405 11q13.5 11 77172856A> G null I V 636 636 missense 0.927 probably damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077292 11q13.5 11 77172859A> C null K Q 637 637 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs376811825 11q13.5 11 77172866A> G null N S 639 639 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077323 11q13.5 11 77172869A> C null E A 640 640 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077319 11q13.5 11 77172868G> A null E K 640 640 missense 0.987 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,TOPMed,gnomAD rs371075538 11q13.5 11 77172871T> A null F I 641 641 missense 0.025 benign 0.05 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1450021975 11q13.5 11 77172879G> T null K N 643 643 missense 0.429 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555077348 11q13.5 11 77172881C> T null P L 644 644 missense 0.24 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs533086563 11q13.5 11 77174761C> A null F L 647 647 3.99E-4 missense 0.969 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1565389480 11q13.5 11 77174759T> C null F L 647 647 missense 0.969 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555078826 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11q13.5 11 77174762G> A null D N 648 648 missense 0.994 probably damaging 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1308203959 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77174766G> A null R Q 649 649 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782503314 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174765C> T null R W 649 649 missense 0.996 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001112601 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782503314 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174765C> T null R W 649 649 missense 0.996 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000666700,ClinVar:RCV001112600 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782503314 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174765C> T null R W 649 649 missense 0.996 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000666700,ClinVar:RCV001113932 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555078841 11q13.5 11 77174771C> A null L M 651 651 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs876657416 [ClinVar]: Usher syndrome type 1, [UniProt]: atypical pubmed:9718356 11q13.5 11 77174772T> C null L P 651 651 missense 0.998 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs876657416 [ClinVar]: Usher syndrome type 1, [UniProt]: atypical pubmed:9718356 11q13.5 11 77174772T> C null L P 651 651 missense 0.998 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000219432 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs367693437 11q13.5 11 77174776C> A null C * 652 652 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs957394613 11q13.5 11 77174774T> A null C S 652 652 missense 0.985 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs34515627 11q13.5 11 77174778T> C null V A 653 653 missense 0.258 benign 0.2 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs34515627 11q13.5 11 77174778T> A null V E 653 653 missense 0.773 possibly damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781885773 11q13.5 11 77174777G> A null V M 653 653 missense 0.728 possibly damaging 0.34 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs201928014 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77174780C> T null R C 654 654 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs41298143 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77174781G> A null R H 654 654 2.0E-4 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs41298143 11q13.5 11 77174781G> C null R P 654 654 2.0E-4 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs397516291 [ClinVar]: Rare genetic deafness 11q13.5 11 77174783C> T null Q * 655 655 stop gained 0 Rare genetic deafness ClinVar:RCV000036071 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1363117128 11q13.5 11 77174784A> G null Q R 655 655 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs375457812 11q13.5 11 77174790G> A null R Q 657 657 missense 0.986 probably damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs878853236 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 cosmic_study:419 11q13.5 11 77174789C> T null R W 657 657 missense 0.996 probably damaging 0.0 deleterious 1 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000763276 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs878853236 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 cosmic_study:419 11q13.5 11 77174789C> T null R W 657 657 missense 0.996 probably damaging 0.0 deleterious 1 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000674391,ClinVar:RCV000763276,ClinVar:RCV001004800 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs878853236 cosmic curated [Cosmic]: endometrium, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 cosmic_study:419 11q13.5 11 77174789C> T null R W 657 657 missense 0.996 probably damaging 0.0 deleterious 1 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000674391,ClinVar:RCV000763276 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs878853378 [ClinVar]: Retinal dystrophy, [ClinVar]: Usher syndrome type 1 11q13.5 11 77174796C> A null S * 659 659 stop gained 0 Retinal dystrophy ClinVar:RCV000225435 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs878853378 [ClinVar]: Retinal dystrophy, [ClinVar]: Usher syndrome type 1 11q13.5 11 77174796C> A null S * 659 659 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000760968 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555078946 11q13.5 11 77174799G> T null G V 660 660 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782485961 11q13.5 11 77174804A> T null M L 662 662 missense 0.743 possibly damaging 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782626037 11q13.5 11 77174810A> G null T A 664 664 missense 0.98 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555078961 11q13.5 11 77174813A> G null I V 665 665 missense 0.927 probably damaging 0.33 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs121965085 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226 11q13.5 11 77174816C> T null R * 666 666 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000669149 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs121965085 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226 11q13.5 11 77174816C> T null R * 666 666 stop gained 0 Rare genetic deafness ClinVar:RCV000151490 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs121965085 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226 11q13.5 11 77174816C> T null R * 666 666 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000669149 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs121965085 [ClinVar]: Usher syndrome, type 1B, [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226 11q13.5 11 77174816C> T null R * 666 666 stop gained 0 Usher syndrome, type 1B (USH1B) Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. ClinVar:RCV000012635 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs782396605 cosmic curated [ClinVar]: Usher syndrome type 1, [Cosmic]: endometrium, [ClinVar]: Usher syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Deafness, autosomal recessive 2 cosmic_study:419 11q13.5 11 77174817G> A null R Q 666 666 missense 0.986 probably damaging 0.11 tolerated 1 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000672944 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs782396605 cosmic curated [ClinVar]: Usher syndrome type 1, [Cosmic]: endometrium, [ClinVar]: Usher syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Deafness, autosomal recessive 2 cosmic_study:419 11q13.5 11 77174817G> A null R Q 666 666 missense 0.986 probably damaging 0.11 tolerated 1 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV001171540 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs782396605 cosmic curated [ClinVar]: Usher syndrome type 1, [Cosmic]: endometrium, [ClinVar]: Usher syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact., [ClinVar]: Deafness, autosomal recessive 2 cosmic_study:419 11q13.5 11 77174817G> A null R Q 666 666 missense 0.986 probably damaging 0.11 tolerated 1 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000672944,ClinVar:RCV000988605 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs397516292 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174822C> T null R C 668 668 missense 0.996 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000675142 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs397516292 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174822C> T null R C 668 668 missense 0.996 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000675142 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs368575149 11q13.5 11 77174823G> A null R H 668 668 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs368575149 11q13.5 11 77174823G> C null R P 668 668 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033201 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174825C> T null R * 669 669 stop gained 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000763277 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033201 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174825C> T null R * 669 669 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000409801,ClinVar:RCV000763277 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033201 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174825C> T null R * 669 669 stop gained 0 Rare genetic deafness ClinVar:RCV000844716 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033201 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174825C> T null R * 669 669 stop gained 0 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV000504864 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs111033201 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174825C> T null R * 669 669 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000036073,ClinVar:RCV000763277 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs111033201 11q13.5 11 77174825C> G null R G 669 669 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs201178011 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174826G> A null R Q 669 669 missense 0.986 probably damaging 0.02 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000665596 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs201178011 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174826G> A null R Q 669 669 missense 0.986 probably damaging 0.02 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000665596 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs387906699 [Ensembl]: Deafness, autosomal dominant 11 (dfna11), [ClinVar]: Deafness, autosomal dominant 11 pubmed:21150918 11q13.5 11 77174831G> A null G S 671 671 missense 0.999 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000022816 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555079009 11q13.5 11 77174832G> T null G V 671 671 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782006250 11q13.5 11 77174834T> C null Y H 672 672 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782147262 11q13.5 11 77174838C> A null P H 673 673 missense 0.999 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781793435 11q13.5 11 77174840A> T null I F 674 674 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,dbSNP,gnomAD rs782459520 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174843C> T null R C 675 675 missense 0.996 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000674849 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,dbSNP,gnomAD rs782459520 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174843C> T null R C 675 675 missense 0.996 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000674849 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,gnomAD rs782743967 cosmic curated [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. cosmic_study:376 11q13.5 11 77174844G> A null R H 675 675 missense 0.994 probably damaging 0.0 deleterious 1 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781851575 11q13.5 11 77174846T> C null Y H 676 676 missense 0.996 probably damaging 0.53 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,gnomAD rs183439926 11q13.5 11 77174856T> C null V A 679 679 2.0E-4 missense 0.003 benign 0.6 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35641839 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174855G> A null V I 679 679 0.01797 missense 0.058 benign 0.11 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000320261 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35641839 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174855G> A null V I 679 679 0.01797 missense 0.058 benign 0.11 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000289903 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35641839 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174855G> A null V I 679 679 0.01797 missense 0.058 benign 0.11 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000384251 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs1555079057 11q13.5 11 77174859A> G null E G 680 680 missense 0.148 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782219701 11q13.5 11 77174871G> A null R Q 684 684 missense 0.986 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,gnomAD rs782570489 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11q13.5 11 77174870C> T null R W 684 684 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782364394 11q13.5 11 77174876C> T null R C 686 686 missense 0.996 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs781991817 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174877G> A null R H 686 686 missense 0.994 probably damaging 0.03 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000344917 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs781991817 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174877G> A null R H 686 686 missense 0.994 probably damaging 0.03 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000295997 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs781991817 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77174877G> A null R H 686 686 missense 0.994 probably damaging 0.03 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000380863 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782270493 11q13.5 11 77174883T> C null L P 688 688 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs200057810 11q13.5 11 77174901C> T null P L 694 694 missense 0.998 probably damaging 0.15 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555079121 11q13.5 11 77174904C> G null A G 695 695 missense 0.269 benign 0.28 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781913580 11q13.5 11 77175372G> A null G S 699 699 missense 0.018 benign 0.33 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782740550 11q13.5 11 77175375G> C null D H 700 700 missense 0.904 possibly damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782740550 11q13.5 11 77175375G> A null D N 700 700 missense 0.017 benign 0.24 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782119318 11q13.5 11 77175379T> A null L H 701 701 missense 0.998 probably damaging 0.59 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs377529562 11q13.5 11 77175381C> T null R C 702 702 2.0E-4 missense 0.534 possibly damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs555579952 11q13.5 11 77175382G> A null R H 702 702 2.0E-4 missense 0.294 benign 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555079454 11q13.5 11 77175385G> A null G E 703 703 missense 0.999 probably damaging 0.98 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs572300575 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77175384G> A null G R 703 703 2.0E-4 missense 1.0 probably damaging 0.46 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000406123 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs572300575 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77175384G> A null G R 703 703 2.0E-4 missense 1.0 probably damaging 0.46 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000311742 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs572300575 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77175384G> A null G R 703 703 2.0E-4 missense 1.0 probably damaging 0.46 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000350852 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782255281 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77175392C> A null C * 705 705 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000770844 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782255281 [ClinVar]: Rare genetic deafness, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77175392C> A null C * 705 705 stop gained 0 Rare genetic deafness ClinVar:RCV000220369 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782468548 11q13.5 11 77175390T> G null C G 705 705 missense 0.991 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782639245 11q13.5 11 77175391G> A null C Y 705 705 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555079470 11q13.5 11 77175395G> T null Q H 706 706 missense 0.471 possibly damaging 0.12 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782417429 11q13.5 11 77175394A> G null Q R 706 706 missense 0.059 benign 0.51 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,gnomAD rs190624231 11q13.5 11 77175396C> T null R C 707 707 2.0E-4 missense 0.653 possibly damaging 0.08 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782176754 11q13.5 11 77175397G> A null R H 707 707 missense 0.003 benign 0.16 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782176754 11q13.5 11 77175397G> T null R L 707 707 missense 0.142 benign 0.2 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782176754 11q13.5 11 77175397G> C null R P 707 707 missense 0.4 benign 0.14 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs397516293 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77175399A> G null M V 708 708 3.99E-4 missense 0.0 benign 0.02 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000665188 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs397516293 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77175399A> G null M V 708 708 3.99E-4 missense 0.0 benign 0.02 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000665188 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782373207 11q13.5 11 77175411G> A null V M 712 712 missense 0.748 possibly damaging 0.09 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782006877 11q13.5 11 77175415T> A null L Q 713 713 missense 0.998 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782150387 11q13.5 11 77175417G> C null G R 714 714 missense 0.839 possibly damaging 0.08 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782150387 11q13.5 11 77175417G> A null G S 714 714 missense 0.677 possibly damaging 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,gnomAD rs577582085 11q13.5 11 77175421C> G null T S 715 715 3.99E-4 missense 0.009 benign 0.53 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs886048676 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77175423C> G null H D 716 716 missense 0.0 benign 1.0 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000338491 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs886048676 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77175423C> G null H D 716 716 missense 0.0 benign 1.0 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000397773 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs886048676 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77175423C> G null H D 716 716 missense 0.0 benign 1.0 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000298666 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs886048676 11q13.5 11 77175423C> T null H Y 716 716 missense 0.132 benign 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,gnomAD rs782696212 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77175426G> A null D N 717 717 missense 0.458 possibly damaging 0.08 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782733109 11q13.5 11 77175430A> G null D G 718 718 missense 0.993 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555079548 11q13.5 11 77175433G> A null W * 719 719 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1461201353 11q13.5 11 77175434G> A null W * 719 719 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555079557 11q13.5 11 77175444A> G null K E 723 723 missense 0.359 benign 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1053637554 11q13.5 11 77175450A> C null K Q 725 725 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC rs782499621 11q13.5 11 77175453_77175454insAAGGGTTTTGCAATCATACCATCCAGCTGAGCTAAGGAGAAAACTGGGG C null I K 726 726 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1165188629 11q13.5 11 77175463A> C null K T 729 729 missense 0.147 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs928455399 11q13.5 11 77177552C> T null H Y 731 731 missense 0.495 possibly damaging 0.46 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782526818 11q13.5 11 77177557T> A null H Q 732 732 missense 0.962 probably damaging 0.5 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1426051381 11q13.5 11 77177560C> G null D E 733 733 missense 0.98 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782672222 11q13.5 11 77177559A> G null D G 733 733 missense 0.987 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782595324 11q13.5 11 77177571A> G null E G 737 737 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,gnomAD rs782438837 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77177570G> A null E K 737 737 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555080713 11q13.5 11 77177578G> T null E D 739 739 missense 0.969 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs201234369 11q13.5 11 77177579C> G null R G 740 740 2.0E-4 missense 0.979 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782276748 11q13.5 11 77177580G> C null R P 740 740 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782276748 11q13.5 11 77177580G> A null R Q 740 740 missense 0.964 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201234369 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77177579C> T null R W 740 740 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001112681 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201234369 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77177579C> T null R W 740 740 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000666826,ClinVar:RCV001112680 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201234369 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77177579C> T null R W 740 740 2.0E-4 missense 0.992 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000666826,ClinVar:RCV001112682 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782417254 11q13.5 11 77177586A> T null K I 742 742 missense 0.994 probably damaging 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1183488561 11q13.5 11 77177591A> G null I V 744 744 missense 0.743 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1484302134 11q13.5 11 77177594A> G null T A 745 745 missense 0.969 probably damaging 0.21 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs36090425 11q13.5 11 77177597G> C null D H 746 746 0.007388 missense 0.534 possibly damaging 0.2 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs36090425 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77177597G> A null D N 746 746 0.007388 missense 0.003 benign 0.33 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001112684 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs36090425 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77177597G> A null D N 746 746 0.007388 missense 0.003 benign 0.33 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV001112683 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs36090425 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77177597G> A null D N 746 746 0.007388 missense 0.003 benign 0.33 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV001112685 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781964930 11q13.5 11 77177607T> C null I T 749 749 missense 0.423 benign 0.05 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs1224881006 11q13.5 11 77177609C> T null L F 750 750 missense 0.991 probably damaging 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781892497 11q13.5 11 77177624A> G null I V 755 755 missense 0.743 possibly damaging 0.64 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782719957 11q13.5 11 77177628G> A null R Q 756 756 missense 0.964 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782174733 [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226 11q13.5 11 77177627C> T null R W 756 756 missense 0.992 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000666324 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782174733 [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226 11q13.5 11 77177627C> T null R W 756 756 missense 0.992 probably damaging 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782174733 [ClinVar]: Deafness, autosomal recessive 2 pubmed:15660226 11q13.5 11 77177627C> T null R W 756 756 missense 0.992 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000666324 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1410381909 11q13.5 11 77177630G> A null G R 757 757 missense 0.999 probably damaging 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782483355 11q13.5 11 77177634T> G null F C 758 758 missense 0.992 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC rs781806681 11q13.5 11 77177633T> C null F L 758 758 missense 0.943 probably damaging 0.18 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782612318 11q13.5 11 77177636A> G null K E 759 759 missense 0.969 probably damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781858669 11q13.5 11 77177639G> A null D N 760 760 missense 0.987 probably damaging 0.28 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782531745 11q13.5 11 77179046T> G null S A 762 762 missense 0.871 possibly damaging 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1453028854 11q13.5 11 77179047C> G null S C 762 762 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082058 11q13.5 11 77179052T> C null F L 764 764 missense 0.943 probably damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201203036 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179055C> A null L M 765 765 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000270954 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201203036 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179055C> A null L M 765 765 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000326027 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201203036 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179055C> A null L M 765 765 2.0E-4 missense 0.991 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000383860 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782185279 11q13.5 11 77179060G> T null K N 766 766 missense 0.127 benign 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782329400 11q13.5 11 77179069C> A null N K 769 769 missense 0.041 benign 0.78 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs375253473 11q13.5 11 77179070G> A null A T 770 770 missense 0.988 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,dbSNP,gnomAD rs782384464 [ClinVar]: Usher syndrome type 1 11q13.5 11 77179073G> T null A S 771 771 missense 0.98 probably damaging 0.02 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000216077 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782384464 11q13.5 11 77179073G> A null A T 771 771 missense 0.987 probably damaging 0.05 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1344720937 11q13.5 11 77179077C> T null T I 772 772 missense 0.042 benign 0.39 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1353030414 11q13.5 11 77179082A> G null I V 774 774 missense 0.743 possibly damaging 0.22 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs201892914 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179085C> T null Q * 775 775 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000411572 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs201892914 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179085C> T null Q * 775 775 stop gained 0 Rare genetic deafness ClinVar:RCV000844718 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs201892914 [ClinVar]: Rare genetic deafness, [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179085C> T null Q * 775 775 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000410053 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082115 11q13.5 11 77179091C> T null H Y 777 777 missense 0.0 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs919516884 11q13.5 11 77179097C> T null R W 779 779 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs572240500 11q13.5 11 77179105C> A null H Q 781 781 missense 0.115 benign 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs781858149 11q13.5 11 77179107A> G null N S 782 782 missense 0.006 benign 0.4 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs376014415 11q13.5 11 77179110G> T null C F 783 783 missense 0.989 probably damaging 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs376014415 11q13.5 11 77179110G> A null C Y 783 783 missense 0.989 probably damaging 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782804821 11q13.5 11 77179114G> T null R S 784 784 missense 0.962 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555082145 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179123C> A null Y * 787 787 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000670160 A0A087WT71 MYO7A Unconventional myosin-VIIa dbSNP,gnomAD rs1555082145 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179123C> A null Y * 787 787 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000670160 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082139 11q13.5 11 77179122A> G null Y C 787 787 missense 0.995 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1174297656 11q13.5 11 77179124G> A null G R 788 788 missense 0.079 benign 0.56 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs751034678 11q13.5 11 77179128T> C null L P 789 789 missense 0.654 possibly damaging 0.18 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs749851891 11q13.5 11 77179737G> A null M I 790 790 missense 0.922 probably damaging 0.88 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782165016 11q13.5 11 77179738C> T null R C 791 791 missense 0.992 probably damaging 0.14 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782693893 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179739G> A null R H 791 791 missense 0.989 probably damaging 0.39 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000348276 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782693893 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179739G> A null R H 791 791 missense 0.989 probably damaging 0.39 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000389828 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782693893 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179739G> A null R H 791 791 missense 0.989 probably damaging 0.39 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000295605 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782693893 11q13.5 11 77179739G> C null R P 791 791 missense 0.991 probably damaging 0.14 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs1132034 11q13.5 11 77179748T> C null F S 794 794 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs980284174 11q13.5 11 77179751T> A null L Q 795 795 missense 0.576 possibly damaging 0.54 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033339 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179753C> G null R G 796 796 missense 0.992 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000669947 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033339 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179753C> G null R G 796 796 missense 0.992 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000669947 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033224 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179754G> A null R Q 796 796 missense 0.986 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000665257 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs111033224 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179754G> A null R Q 796 796 missense 0.986 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000665257 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033339 11q13.5 11 77179753C> T null R W 796 796 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082575 11q13.5 11 77179759C> G null Q E 798 798 missense 0.954 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082578 11q13.5 11 77179760A> G null Q R 798 798 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082582 11q13.5 11 77179763C> T null A V 799 799 missense 0.99 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082585 11q13.5 11 77179765C> A null L M 800 800 missense 0.667 possibly damaging 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782080111 11q13.5 11 77179766T> A null L Q 800 800 missense 0.804 possibly damaging 0.19 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1241891051 11q13.5 11 77179769A> C null H P 801 801 missense 0.04 benign 0.14 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782752588 11q13.5 11 77179770C> G null H Q 801 801 missense 0.0 benign 0.18 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082590 11q13.5 11 77179768C> T null H Y 801 801 missense 0.0 benign 0.91 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs376169396 11q13.5 11 77179771C> T null R C 802 802 missense 0.977 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs542110883 11q13.5 11 77179772G> A null R H 802 802 2.0E-4 missense 0.142 benign 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs778880077 11q13.5 11 77179777C> G null R G 804 804 missense 0.245 benign 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs561347333 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179778G> A null R Q 804 804 2.0E-4 missense 0.007 benign 0.11 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000374878 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs561347333 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179778G> A null R Q 804 804 2.0E-4 missense 0.007 benign 0.11 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000280481 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs561347333 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179778G> A null R Q 804 804 2.0E-4 missense 0.007 benign 0.11 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000335541 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs778880077 11q13.5 11 77179777C> T null R W 804 804 missense 0.707 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782585520 11q13.5 11 77179787A> C null H P 807 807 missense 0.037 benign 0.15 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782218928 11q13.5 11 77179788C> G null H Q 807 807 missense 0.0 benign 0.37 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1316100067 11q13.5 11 77179786C> T null H Y 807 807 missense 0.0 benign 0.76 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782650544 11q13.5 11 77179794G> T null Q H 809 809 missense 0.0 benign 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782650544 11q13.5 11 77179794G> C null Q H 809 809 missense 0.0 benign 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs527255078 11q13.5 11 77179793A> T null Q L 809 809 2.0E-4 missense 0.005 benign 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782276809 cosmic curated [Cosmic]: oesophagus cosmic_study:582 11q13.5 11 77179798C> T null R C 811 811 missense 0.0 benign 0.01 deleterious 1 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1050941800 11q13.5 11 77179799G> A null R H 811 811 missense 0.0 benign 0.18 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1050941800 11q13.5 11 77179799G> T null R L 811 811 missense 0.009 benign 0.15 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1478403093 11q13.5 11 77179805C> A null A D 813 813 missense 0.571 possibly damaging 0.61 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1265801629 [NCI-TCGA]: Variant assessed as Somatic; 1 impact. 11q13.5 11 77179807C> T null R C 814 814 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1220715086 cosmic curated [Cosmic]: endometrium cosmic_study:419 11q13.5 11 77179808G> A null R H 814 814 missense 0.994 probably damaging 0.0 deleterious 1 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,TOPMed,gnomAD rs541139673 11q13.5 11 77179812G> T null Q H 815 815 3.99E-4 missense 0.043 benign 0.09 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781926175 11q13.5 11 77179813C> T null R C 816 816 missense 0.621 possibly damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148343670 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179814G> A null R H 816 816 0.002796 missense 0.549 possibly damaging 0.29 tolerated 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000286068 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148343670 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179814G> A null R H 816 816 0.002796 missense 0.549 possibly damaging 0.29 tolerated 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000343328 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148343670 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179814G> A null R H 816 816 0.002796 missense 0.549 possibly damaging 0.29 tolerated 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000404583 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148343670 11q13.5 11 77179814G> T null R L 816 816 0.002796 missense 0.245 benign 0.09 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781926175 11q13.5 11 77179813C> A null R S 816 816 missense 0.012 benign 0.12 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082724 11q13.5 11 77179820T> C null I T 818 818 missense 0.0 benign 0.16 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,gnomAD rs374547580 11q13.5 11 77179819A> G null I V 818 818 missense 0.017 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs1279918132 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179828C> T null Q * 821 821 stop gained 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000664644 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP rs1279918132 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179828C> T null Q * 821 821 stop gained 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000664644 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs898364810 11q13.5 11 77179830G> C null Q H 821 821 missense 0.991 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1555082743 11q13.5 11 77179829A> G null Q R 821 821 missense 0.969 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs995330889 11q13.5 11 77179834C> T null R C 823 823 missense 0.636 possibly damaging 0.11 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs533027065 11q13.5 11 77179835G> A null R H 823 823 2.0E-4 missense 0.467 possibly damaging 0.46 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,TOPMed,gnomAD rs533027065 11q13.5 11 77179835G> C null R P 823 823 2.0E-4 missense 0.424 benign 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1407246264 11q13.5 11 77179839C> A null C * 824 824 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1394439593 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77179840C> T null R C 825 825 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782172320 11q13.5 11 77179841G> A null R H 825 825 missense 0.994 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs368341987 [ClinVar]: Usher syndrome type 1, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:9382091 11q13.5 11 77179843G> A null A T 826 826 0.001797 missense 0.039 benign 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000406568,ClinVar:RCV000844912 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs368341987 [ClinVar]: Usher syndrome type 1, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:9382091 11q13.5 11 77179843G> A null A T 826 826 0.001797 missense 0.039 benign 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000576432,ClinVar:RCV000844912 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs368341987 [ClinVar]: Usher syndrome type 1, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:9382091 11q13.5 11 77179843G> A null A T 826 826 0.001797 missense 0.039 benign 0.0 deleterious 0 MYO7A-Related Disorders ClinVar:RCV000303529 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs368341987 [ClinVar]: Usher syndrome type 1, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:9382091 11q13.5 11 77179843G> A null A T 826 826 0.001797 missense 0.039 benign 0.0 deleterious 0 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV000787987 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs368341987 [ClinVar]: Usher syndrome type 1, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:9382091 11q13.5 11 77179843G> A null A T 826 826 0.001797 missense 0.039 benign 0.0 deleterious 0 Usher syndrome 1B (USH1B) USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. MIM:276900 pubmed:10094549,pubmed:10364543,pubmed:10447383,pubmed:10930322,pubmed:12112664,pubmed:15660226,pubmed:16679490,pubmed:23559863,pubmed:24831256,pubmed:25798947,pubmed:7870171,pubmed:8900236,pubmed:9002678,pubmed:9382091,pubmed:9718356 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs368341987 [ClinVar]: Usher syndrome type 1, [ClinVar]: MYO7A-Related Disorders, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:9382091 11q13.5 11 77179843G> A null A T 826 826 0.001797 missense 0.039 benign 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000576432,ClinVar:RCV000844912,ClinVar:RCV001003087 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782474674 11q13.5 11 77179847A> G null Y C 827 827 missense 0.518 possibly damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082787 11q13.5 11 77179849C> G null L V 828 828 missense 0.986 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1199143250 11q13.5 11 77179853T> G null V G 829 829 missense 0.994 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1247618414 11q13.5 11 77179852G> A null V M 829 829 missense 0.996 probably damaging 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs797044493 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179855C> T null R C 830 830 missense 0.996 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000670096 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs797044493 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179855C> T null R C 830 830 missense 0.996 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000670096 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs797044493 11q13.5 11 77179855C> G null R G 830 830 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs371029653 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179856G> A null R H 830 830 missense 0.994 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000307060,ClinVar:RCV000765014 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs371029653 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179856G> A null R H 830 830 missense 0.994 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000365276,ClinVar:RCV000675124,ClinVar:RCV000765014 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs371029653 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179856G> A null R H 830 830 missense 0.994 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000395526,ClinVar:RCV000675124,ClinVar:RCV000765014 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs797044493 11q13.5 11 77179855C> A null R S 830 830 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082835 11q13.5 11 77179859A> G null K R 831 831 missense 0.0 benign 0.53 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed rs1259877581 11q13.5 11 77179861G> A null A T 832 832 missense 0.019 benign 0.4 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082844 11q13.5 11 77179862C> T null A V 832 832 missense 0.197 benign 0.11 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs781869469 11q13.5 11 77179867C> T null R C 834 834 missense 0.555 possibly damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,gnomAD rs569858361 11q13.5 11 77179868G> A null R H 834 834 3.99E-4 missense 0.578 possibly damaging 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082861 11q13.5 11 77179871A> G null H R 835 835 missense 0.0 benign 0.55 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs375510570 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179873C> T null R C 836 836 missense 0.855 possibly damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV001112773 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs375510570 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179873C> T null R C 836 836 missense 0.855 possibly damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV001112774 A0A087WT71 MYO7A Unconventional myosin-VIIa ESP,ExAC,TOPMed,dbSNP,gnomAD rs375510570 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179873C> T null R C 836 836 missense 0.855 possibly damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV001112775 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782179888 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179874G> A null R H 836 836 missense 0.015 benign 0.02 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000363893 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782179888 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179874G> A null R H 836 836 missense 0.015 benign 0.02 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000333807 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,dbSNP,gnomAD rs782179888 [ClinVar]: Usher syndrome type 1, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179874G> A null R H 836 836 missense 0.015 benign 0.02 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000276334 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1334199217 11q13.5 11 77179880G> A null W * 838 838 stop gained 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082883 11q13.5 11 77179885G> A null V M 840 840 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs397516296 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179889T> C null L P 841 841 missense 0.198 benign 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000668293 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl,dbSNP rs397516296 [ClinVar]: Deafness, autosomal recessive 2 11q13.5 11 77179889T> C null L P 841 841 missense 0.198 benign 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000668293 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,gnomAD rs529251704 11q13.5 11 77179888C> G null L V 841 841 2.0E-4 missense 0.001 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082898 11q13.5 11 77179892C> G null T S 842 842 missense 0.98 probably damaging 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140559111 11q13.5 11 77179894G> T null V L 843 843 7.99E-4 missense 0.005 benign 0.55 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140559111 cosmic curated [ClinVar]: Usher syndrome type 1, [Cosmic]: large_intestine, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:22895193,cosmic_study:452 11q13.5 11 77179894G> A null V M 843 843 7.99E-4 missense 0.247 benign 0.03 deleterious 1 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000274914 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140559111 cosmic curated [ClinVar]: Usher syndrome type 1, [Cosmic]: large_intestine, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:22895193,cosmic_study:452 11q13.5 11 77179894G> A null V M 843 843 7.99E-4 missense 0.247 benign 0.03 deleterious 1 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000367440 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140559111 cosmic curated [ClinVar]: Usher syndrome type 1, [Cosmic]: large_intestine, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:22895193,cosmic_study:452 11q13.5 11 77179894G> A null V M 843 843 7.99E-4 missense 0.247 benign 0.03 deleterious 1 Usher syndrome Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. MIM:PS276900 ClinVar:RCV001171529 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140559111 cosmic curated [ClinVar]: Usher syndrome type 1, [Cosmic]: large_intestine, [ClinVar]: Usher syndrome, [ClinVar]: Deafness, autosomal dominant 11, [ClinVar]: Deafness, autosomal recessive 2 pubmed:22895193,cosmic_study:452 11q13.5 11 77179894G> A null V M 843 843 7.99E-4 missense 0.247 benign 0.03 deleterious 1 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000318308 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082917 11q13.5 11 77179910G> A null R Q 848 848 missense 0.986 probably damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1426313451 11q13.5 11 77179909C> T null R W 848 848 missense 0.996 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1174669578 11q13.5 11 77179913G> A null G D 849 849 missense 0.992 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782375445 11q13.5 11 77179912G> C null G R 849 849 missense 0.781 possibly damaging 0.13 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782375445 11q13.5 11 77179912G> A null G S 849 849 missense 0.988 probably damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1174669578 11q13.5 11 77179913G> T null G V 849 849 missense 0.992 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa 1000Genomes,ExAC,gnomAD rs568481133 11q13.5 11 77179915A> G null M V 850 850 3.99E-4 missense 0.441 benign 0.11 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs986413500 11q13.5 11 77179920C> G null I M 851 851 missense 0.986 probably damaging 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa Ensembl rs772185596 11q13.5 11 77179919T> A null I N 851 851 missense 0.988 probably damaging 0.07 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs541743025 11q13.5 11 77179921G> T null A S 852 852 missense 0.606 possibly damaging 0.02 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs541743025 11q13.5 11 77179921G> A null A T 852 852 missense 0.767 possibly damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033437 [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77179925G> A null R H 853 853 missense 0.994 probably damaging 0.0 deleterious 0 Deafness, autosomal dominant 11 (DFNA11) MIM:601317 pubmed:20301607,ClinVar:RCV000765015,ClinVar:RCV000791456 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033437 [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77179925G> A null R H 853 853 missense 0.994 probably damaging 0.0 deleterious 0 Deafness, autosomal recessive 2 (DFNB2) MIM:600060 ClinVar:RCV000765015 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033437 [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77179925G> A null R H 853 853 missense 0.994 probably damaging 0.0 deleterious 0 Nonsyndromic hearing loss and deafness Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. ClinVar:RCV001004783 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033437 [ClinVar]: Nonsyndromic hearing loss and deafness, [ClinVar]: Deafness, autosomal dominant 11 11q13.5 11 77179925G> A null R H 853 853 missense 0.994 probably damaging 0.0 deleterious 0 Usher syndrome type 1 (USH1) Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). MIM:276900 pubmed:20301442,pubmed:21697857,pubmed:24651602,ClinVar:RCV000765015 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs111033437 11q13.5 11 77179925G> T null R L 853 853 missense 0.992 probably damaging 0.04 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,gnomAD rs1311468075 11q13.5 11 77179929G> C null R S 854 854 missense 0.794 possibly damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782148618 11q13.5 11 77179928G> C null R T 854 854 missense 0.889 possibly damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082978 11q13.5 11 77179933C> A null H N 856 856 missense 0.132 benign 0.17 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082978 11q13.5 11 77179933C> T null H Y 856 856 missense 0.0 benign 1.0 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555082994 11q13.5 11 77179936C> A null Q K 857 857 missense 0.0 benign 0.62 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa TOPMed,dbSNP,gnomAD rs797044681 11q13.5 11 77179939C> T null R C 858 858 missense 0.997 probably damaging 0.0 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782428224 11q13.5 11 77179940G> A null R H 858 858 missense 0.996 probably damaging 0.03 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782428224 11q13.5 11 77179940G> T null R L 858 858 missense 0.994 probably damaging 0.05 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555083015 11q13.5 11 77179948G> A null A T 861 861 missense 0.203 benign 0.47 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782487264 11q13.5 11 77180383C> T null R C 866 866 missense 0.992 probably damaging 0.01 deleterious 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs199607235 NCI-TCGA Cosmic [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 11q13.5 11 77180384G> A null R H 866 866 missense 0.989 probably damaging 0.18 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,TOPMed,gnomAD rs782487264 11q13.5 11 77180383C> A null R S 866 866 missense 0.979 probably damaging 0.17 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555083335 11q13.5 11 77180386C> T null L F 867 867 missense 0.257 benign 0.11 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555083346 11q13.5 11 77180391G> C null E D 868 868 missense 0.343 benign 0.1 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782679618 11q13.5 11 77180389G> A null E K 868 868 missense 0.281 benign 0.16 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa ExAC,gnomAD rs782679618 11q13.5 11 77180389G> C null E Q 868 868 missense 0.082 benign 0.11 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555083348 11q13.5 11 77180393C> T null A V 869 869 missense 0.028 benign 0.06 tolerated 0 A0A087WT71 MYO7A Unconventional myosin-VIIa gnomAD rs1555083353 11q13.5 11 77180402T> C null M T 872 872 missense 0.029 benign 0.23 tolerated 0